idx gene1 gene2 strand1(gene/fusion) strand2(gene/fusion) breakpoint1 breakpoint2 site1 site2 type split_reads1 split_reads2 discordant_mates coverage1 coverage2 confidence reading_frame tags retained_protein_domains closest_genomic_breakpoint1 closest_genomic_breakpoint2 gene_id1 gene_id2 transcript_id1 transcript_id2 direction1 direction2 filters fusion_transcript peptide_sequence 604 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19741565 chr13:19677823 CDS/splice-site intergenic deletion/read-through 254 65 0 1210 1094 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(120),mismatches(5),multimappers(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAA)CCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLr|vikenvaevtrssacsviqks* 604 ENSG00000253729.8 ENSG00000164808.17 -/- +/- chr8:47783742 chr8:47539689 CDS/splice-site intron deletion/read-through/5'-5' 52 54 1 379 174 high out-of-frame . FAT_domain(100%),NUC194_domain(100%)| . . ENSG00000253729.8 ENSG00000164808.17 ENST00000314191.7 . upstream downstream duplicates(21),mismatches(3) ^(ACTCGGCGGCATGGCGGGCTCCGGAGCCGGTGTGCGTTGCTCCCTGCTGCGGCTGCAGGAGACCTTGTCCGCTGCGGACCGCTGCGGTGCTGCCCTGGCCGGTCATCAACTGATCCGCGGCCTGGGGCAGGAATGCGTCCTGAGCAGCAGCCCCGCGGTGCTGG___CATTACAGACATCTTTAGTTTTTTCCAGAGATTTCGGTTTGCTTGTATTTGTCCGGAAGTCACTCAACAGTATTGAA___TTTCGTGAATGTAGAGAAGAAATCCTAAAGTTTTTATGTATTTTCTTAGAAAAAATGGGCCAGAAGATCGCACCTTACTCTGTTGAAATTAAG___AACACTTGTACCAGTGTTTATACAAAAGATAGAGCTGCTAAATGTAAAATTCCAGCCCTGGACCTTCTTATTAAG___TTACTTCAGACTTTTAGAAGTTCTAGACTCATGGATGAATTTAAAATTGGAGAATTATTTAGTAAATTCTATGGAGAACTTGCATTGAAAAAAAAAATACCAGATACAG___TTTTAGAAAAAGTATATGAGCTCCTAGGATTATTGGGTGAAGTTCATCCTAGTGAGATGATAAATAATGCAGAAAACCTGTTCCGCGCTTTTCTGGGTGAACTTAAGACCCAG___ATGACATCAGCAGTAAGAGAGCCCAAACTACCTGTTCTGGCAGGATGTCTGAAGGGGTTGTCCTCACTTCTGTGCAACTTCACTAAGTCCATGGAAGAAG___ATCCCCAGACTTCAAGGGAGATTTTTAATTTTGTACTAAAGGCAATTCGTCCTCAG___ATTGATCTGAAGAGATATGCTGTGCCCTCAG___CTGGCTTGCGCCTATTTGCCCTGCATGCATCTCAGTTTAGCACCTGCCTTCTGGACAACTACGTGTCTCTATTTGAAGTCTTGTTAAAGTGGTGTGCCCACACAAATGTAGAATTGAAAAAAGCTGCACTTTCAGCCCTGGAATCCTTTCTGAAACAG___GTTTCTAATATGGTGGCGAAAAATGCAGAAATGCATAAAAATAAACTGCAGTACTTTATGGAGCAGTTTTATGGAATCATCAGAAATGTGGATTCGAACAACAAGGAGTTATCTATTGCTATCCGTGGATATGGACTTTTTGCAGGA___CCGTGCAAGGTTATAAACGCAAAAGATGTTGACTTCATGTACGTTGAGCTCATTCAGCGCTGCAAGCAGATGTTCCTCACCCAGACAGACACTGGTGACGACCGTGTTTATCAGATGCCAAGCTTCCTCCAGTCTGTTGCAAGCGTCTTGCTGTACCTTGACACA___GTTCCTGAGGTGTATACTCCAGTTCTGGAGCACCTCGTGGTGATGCAGATAGACAGTTTCCCACAGTACAGTCCAAAAATGCAGCTGGTGTGTTGCAGAGCCATAGTGAAGGTGTTCCTAGCTTTGGCAGCAAAAGGGCCAGTTCTCAGGAATTGCATTAGTACTGTGG___TGCATCAGGGTTTAATCAGAATATGTTCTAAACCAGTGGTCCTTCCAAAG___GGCCCTGAGTCTGAATCTGAAGACCACCGTGCTTCAGGGGAAGTCAGAACTGGCAAATGGAAGGTGCCCACATACAAAGACTACGTGGATCTCTTCAGACATCTCCTGAGCTCTGACCAGATGATG___GATTCTATTTTAGCAGATGAAGCATTTTTCTCTGTGAATTCCTCCAGTGAAAGTCTGAATCATTTACTTTATGATGAATTTGTAAAATCCGTTTTGAAGATTGTTGAGAAATTGGATCTTACACTTGAAATACAGACTGTTGGGGAACAAGAG___AATGGAGATGAGGCGCCTGGTGTTTGGATGATCCCAACTTCAGATCCAGCGGCTAACTTGCATCCAGCTAAACCTAAAGATTTTTCGGCTTTCATTAACCTGGTGGAATTTTGCAG___AGAGATTCTCCCTGAGAAACAAGCAGAATTTTTTGAACCATGGGTGTACTCATTTTCATATGAATTAATTTTGCAATCTACAAGGTTGCCCCTCATCAGTGGTTTCTACAAATTGCTTTCTATTACAGTAAGAAATGCCAAGAAAATAAAATATTTCGAG___GGAGTTAGTCCAAAGAGTCTGAAACACTCTCCTGAAGACCCAGAAAAGTATTCTTGCTTTGCTTTATTTGTGAAATTTGGCAAAGAG___GTGGCAGTTAAAATGAAGCAGTACAAAGATGAACTTTTGGCCTCTTGTTTGACCTTTCTTCTGTCCTTGCCACACAACATCATTGAACTCGATGTTAGAGCCTACGTTCCTGCACTGCAG___ATGGCTTTCAAACTGGGCCTGAGCTATACCCCCTTGGCAGAAGTAGGCCTGAATGCTCTAGAAGAATGGTCAATTTATATTGACAGACATGTAATGCAGCCTTATTACAAAGACATTCTCCCCTGCCTGGATGGATACCTGAAGACTTCAGCCTTGTCAG___ATGAGACCAAGAATAACTGGGAAGTGTCAGCTCTTTCTCGGGCTGCCCAGAAAGGATTTAATAAAGTGGTGTTAAAGCATCTGAAGAAGACAAAGAACCTTTCATCA___AACGAAGCAATATCCTTAGAAGAAATAAGAATTAGAGTAGTACAAATGCTTGGATCTCTAGGAGGACAAATAAACAAAAATCTTCTGACAG___TCACGTCCTCAGATGAGATGATGAAGAGCTATGTGGCCTGGGACAGAGAGAAGCGGCTGAGCTTTGCAGTGCCCTTTAGAGAGATGAAACCTGTCATTTTCCTGGATGTGTTCCTGCCTCGAGTCACAGAATTAGCGCTCACAGCCAGTGACAGACAAACTAAA___GTTGCAGCCTGTGAACTTTTACATAGCATGGTTATGTTTATGTTGGGCAAAGCCACGCAGATGCCAGAAGGGGGACAGGGAGCCCCACCCATGTACCAGCTCTATAAGCGGACGTTTCCTGTGCTGCTTCGACTTGCGTGTGATGTTGATCAG___GTGACAAGGCAACTGTATGAGCCACTAGTTATGCAGCTGATTCACTGGTTCACTAACAACAAGAAATTTGAAAGTCAGGATACTGTTGCCTTACTAGAAGCTATATTG___GATGGAATTGTGGACCCTGTTGACAGTACTTTAAGAGATTTTTGTGGTCGGTGTATTCGAGAATTCCTTAAATGGTCCATTAAGCAAATAACACCACAGCAGCAGGAGAAGAGTCCAGTAAACACCAAATCGCTTTTCAAGCGACTTTATAGCCTTGCGCTTCACCCCAATGCTTTCAAGAGGCTGGGAGCATCACTTGCCTTTAATAATATCTACAGGGAATTCAG___GGAAGAAGAGTCTCTGGTGGAACAGTTTGTGTTTGAAGCCTTGGTGATATACATGGAGAGTCTGGCCTTAGCACATGCAGATGAGAAGTCCTTAG___GTACAATTCAACAGTGTTGTGATGCCATTGATCACCTATGCCGCATCATTGAAAAGAAGCATGTTTCTTTAAATAAAGCAAAGAAACGACGTTTGCCGCG___AGGATTTCCACCTTCCGCATCATTGTGTTTATTGGATCTGGTCAAGTGGCTTTTAGCTCATTGTGGGAGGCCCCAGACAGAATGTCGACACAAATCCATTGAACTCTTTTATAAATTCGTTCCTTTATTGCCAG___GCAACAGATCCCCTAATTTGTGGCTGAAAGATGTTCTCAAGGAAGAAGGTGTCTCTTTTCTCATCAACACCTTTGAGGGGGGTGGCTGTGGCCAGCCCTCGGGCATCCTGGCCCAGCCCACCCTCTTGTACCTTCGGGGGCCATTCAGCCTGCAGGCCACGCTATGCTGGCTGGACCTGCTCCTGGCCGCGTTGGAGTGCTACAACACGTTCATTGGCGAGAGAACTGTAGGAGCGCTCCAGGTCCTAG___GTACTGAAGCCCAGTCTTCACTTTTGAAAGCAGTGGCTTTCTTCTTAGAAAGCATTGCCATGCATGACATTATAGCAGCAGAAAAGTGCTTTGGCACTGGGGCAGCAGGTAACAGAACAAGCCCACAAGAGGGAGAAAGGTACAACTACAGCAAATGCACCGTTGTGGTCCGGATTATGGAGTTTACCACGACTCTGCTAAACACCTCCCCGGAAGGATGGAAG___CTCCTGAAGAAGGACTTGTGTAATACACACCTGATGAGAGTCCTGGTGCAGACGCTGTGTGAGCCCGCAAGCATAGGTTTCAACATCGGAGACGTCCAGGTTATGGCTCATCTTCCTGATGTTTGTGTGAATCTGATGAAAGCTCTAAAGATGTCCCCATACAAAGATATCCTAGAGACCCATCTGAGAGAGAAAATAACAGCACAGAG___CATTGAGGAGCTTTGTGCCGTCAACTTGTATGGCCCTGACGCGCAAGTGGACAGGAGCAGGCTGGCTGCTGTTGTGTCTGCCTGTAAACAGCTTCACAGAGCTGGGCTTCTGCATAATATATTACCGTCTCAG___TCCACAGATTTGCATCATTCTGTTGGCACAGAACTTCTTTCCCTGGTTTATAAAGGCATTGCCCCTGGAGATGAGAGACAGTGTCTGCCTTCTCTAGACCTCAGTTGTAAGCAGCTGGCCAGCGGACTTCTGGAGTTAGCCTTTGCTTTTGGAGGACTG___TGTGAGCGCCTTGTGAGTCTTCTCCTGAACCCAGCGGTGCTGTCCACGGCGTCCTTGGGCAGCTCACAGGGCAGCGTCATCCACTTCTCCCATGGGGAGTATTTCTATAGCTTGTTCTCAGAAACGATCAACACGGAATTATTGAAAAATCTGGATCTTGCTGTATTGGAGCTCATGCAGTCTTCAGTGGATAATACCAAAATG___GTGAGTGCCGTTTTGAACGGCATGTTAGACCAGAGCTTCAGGGAGCGAGCAAACCAGAAACACCAAGGACTGAAACTTGCGACTACAATTCTGCAACACTGGAAGAAGTGTGATTCATGGTGGGCCAAAGATTCCCCTCTCGAAACTAAAATGGCAGTGCTGGCCTTACTGGCAAAAATTTTACAG___ATTGATTCATCTGTATCTTTTAATACAAGTCATGGTTCATTCCCTGAAGTCTTTACAACATATATTAGTCTACTTGCTGACACAAAGCTGGATCTACATTTAAAG___GGCCAAGCTGTCACTCTTCTTCCATTCTTCACCAGCCTCACTGGAGGCAGTCTGGAGGAACTTAGACGTGTTCTGGAGCAGCTCATCGTTGCTCACTTCCCCATGCAGTCCAGGGAATTTCCTCCAGGAACTCCGCGGTTCAATAATTATGTGGACTGCATGAAAAAG___TTTCTAGATGCATTGGAATTATCTCAAAGCCCTATGTTGTTGGAATTGATGACAGAAGTTCTTTGTCGGGAACAGCAGCATGTCATGGAAGAATTATTTCAATCCAGTTTCAGGAGGATTGCCAGAAG___GGGTTCATGTGTCACACAAGTAGGCCTTCTGGAAAGCGTGTATGAAATGTTCAGGAAGGATGACCCCCGCCTAAGTTTCACACGCCAGTCCTTTGTGGACCGCTCCCTCCTCACTCTGCTGTGGCACTGTAGCCTGGATGCTTTGAGAGAATTCTTCAGCACAATTGTGGTGGATGCCATTGATGTGTTGAAGTCCAGGTTTACAAAG___CTAAATGAATCTACCTTTGATACTCAAATCACCAAGAAGATGGGCTACTATAAGATTCTAGACGTGATGTATTCTCGCCTTCCCAAAGATGATGTTCATGCTAAGGAATCAAAAATTAATCAAGTTTTCCATGGCTCGTGTATTACAGAAGGAAATGAACTTACAAAGACATTGATTAA___ATTGTGCTACGATGCATTTACAGAGAACATGGCAGGAGAGAATCAGCTGCTGGAGAGGAGAAGACTTTACCATTGTGCAGCATACAACTGCGCCATATCTGTCATCTGCTGTGTCTTCAATGAGTTAAAATTTTACCAAGGTTTTCTGTTTAGTGAAAAACCAGAAAAG___AACTTGCTTATTTTTGAAAATCTGATCGACCTGAAGCGCCGCTATAATTTTCCTGTAGAAGTTGAG___GTTCCTATGGAAAGAAAGAAAAAGTACATTGAAATTAGGAAAGAAGCCAGAGAAGCAGCAAATGGGGATTCAG___ATGGTCCTTCCTATATGTCTTCCCTGTCATATTTGGCAGACAGTACCCTGAGTGAGGAAATGAGTCAATTTGATTTCTCAACCGGAGTTCAGAGCTATTCATACAGCTCCCAAGACCCTAGACCTGCCACTGGTCGTTTTCGGAGACGG___GAGCAGCGGGACCCCACGGTGCATGATGATGTGCTGGAGCTGGAGATGGACGAGCTCAATCGGCATGAGTGCATGGCGCCCCTGACGGCCCTGGTCAAGCACATGCACAGAAGCCTGGGCCCGCCTCAAGGAGAAGAG___GATTCAGTGCCAAGAGATCTTCCTTCTTGGATGAAATTCCTCCATGGCAAACTGGGAAATCCAATAGTACCATTAAATATCCGTCTCTTCTTAGCCAAGCTTGTTATTAATACAGAAGAG___GTCTTTCGCCCTTACGCGAAGCACTGGCTTAGCCCCTTGCTGCAGCTGGCTGCTTCTGAAAACAATGGAGGAGAAGGAATTCACTACATGGTGGTTGAGATAGTGGCCACTATTCTTTCATGGACAGGCTTGGCCACTCCAACA___GGGGTCCCTAAAGATGAAGTGTTAGCAAATCGATTGCTTAATTTCCTAATGAAACATGTCTTTCATCCAAAAAGAGCTGTGTTTAGACACAACCTTGAAATTATAAAGACCCTTGTCGAGTGCTGGAAGGATTGTTTATCCATCCCTTATAG___GTTAATATTTGAAAAGTTTTCCGGTAAAGATCCTAATTCTAAAGACAACTCAGTAGGGATTCAATTGCTAGGCATCGTGATGGCCAATGACCTGCCTCCCTATGACCCACAGTGTGGCATCCAGAGTAGCGA___ATACTTCCAGGCTTTGGTGAATAATATGTCCTTTGTAAGATATAAAGAAGTGTATGCCGCTGCAGCAGAAGTTCTAGGACTTATACTTCGATATGTTATGGAGAGAAAAAAC___ATACTGGAGGAGTCTCTGTGTGAACTGGTTGCGAAACAATTGAAGCAACATCAGAATACTATGGAGGACAAGTTTATTGTGTGCTTGAACAAAGTGACCAAGAGCTTCCCTCCTCTTGCAGACAG___GTTCATGAATGCTGTGTTCTTTCTGCTGCCAAAATTTCATGGAGTGTTGAAAACACTCTGTCTGGAGGTGGTACTTTGTCGTGTGGAGGGAATGACAGAGCTGTACTTCCAGTTAAAGAGCAAGGACTTCGTTCAAGTCATGAGACATAG___AGATGATGAAAGACAAAAAGTATGTTTGGACATAATTTATAAGATGATGCCAAAGTTAAAACCAGTAGAACTCCGAGAACTTCTGAACCCCGTTGTGGAATTCGTTTCCCATCCTTCTACAACATGTAGGGAACAAATGTATAATATTCTCATGTGGATTCATGATAATTACAG___AGATCCAGAAAGTGAGACAGATAATGACTCCCAGGAAATATTTAAGTTGGCAAAAGATGTGCTGATTCAAGGATTGATCGATGAGAACCCTGGACTTCA___ATTAATTATTCGAAATTTCTGGAGCCATGAAACTAGGTTACCTTCAAATACCTTGGACCGGTTGCTGGCACTAAATTCCTTATATTCTCCTAAGATAGAAGTGCACTTTTTAAGTTTAGCAACAAATTTTCTGCTCGAAATGACCAGCATGAGCCCAGATTATCCAAACCCCATGTTCGAGCATCCTCTGTCAGAATGCGAATTTCAG___GAATATACCATTGATTCTGATTGGCGTTTCCGAAGTACTGTTCTCACTCCGATGTTTGTGGAGACCCAGGCCTCCCAGGGCACTCTCCAGACCCGTACCCAGGAAGGGTCCCTCTCAGCTCGCTGGCCAGTGGCAGGGCAGATAAGGGCCACCCAGCAGCAGCATGACTTCACACTGACACAGACTGCAG___ATGGAAGAAGCTCATTTGATTGGCTGACCGGGAGCAGCACTGACCCGCTGGTCGACCACACCAGTCCCTCATCTGACTCCTTGCTGTTTGCCCACAAGAGGAGTGAAAGGTTACAGAGAGCACCCTTGAAGTCAGTGGGGCCTGATTTTGGGAAAAAAAGGCTGGGCCTTCCAGGGGACGAGGTGGATAACAAAGTGAAAG___GTGCGGCCGGCCGGACGGACCTACTACGACTGCGCAGACGGTTTATGAGGGACCAGGAGAAGCTCAGTTTGATGTATGCCAGAAAAGGCGTTGCTGAGCAAAAACGAGAGAAG___GAAATCAAGAGTGAGTTAAAAATGAAGCAGGATGCCCAGGTCGTTCTGTACAGAAGCTACCGGCACGGAGACCTTCCTGACATTCAGATCAAGCACAGCAGCCTCATCACCCCGTTACAGGCCGTGGCCCAG___AGGGACCCAATAATTGCAAAACAGCTCTTTAGCAGCTTGTTTTCTGGAATTTTGAAAGAGATGGATAAATTTAAGACACTGTCTGAAAAAAACAACATCACTCAAAAGTTGCTTCAAGACTTCAATCGTTTTCTTAATACCACCTTCTCTTTCTTTCCACCCTTTGTCTCTTGTATTCAG___GACATTAGCTGTCAGCACGCAGCCCTGCTGAGCCTCGACCCAGCGGCTGTTAGCGCTGGTTGCCTGGCCAGCCTACAGCAGCCCGTGGGCATCCGCCTGCTAGAGGAGGCTCTGCTCCGCCTGCTGCCTGCTGAGCTGCCTGCCAAGCGAGTCCGTGGGAAGGCCCGCCTCCCTCCTGATGTCCTCAGATGGGTGGAGCTTGCTAA___GCTGTATAGATCAATTGGAGAATACGACGTCCTCCGTGGGATTTTTACCAGTGAGATAGGAACAAAGCAAATCACTCAGAGTGCATTATTAGCAGAAGCCAGAAGTGATTATTCTGAAGCTGCTAAGCAGTATGATGAG___GCTCTCAATAAACAAGACTGGGTAGATGGTGAGCCCACAGAAGCCGAGAAGGATTTTTGGGAACTTGCATCCCTTGACTGTTACAACCACCTTGCTGAGTGGAAATCACTTGAATACTGTTCTACAGCCAGTATAGACAGTGAGAACCCCCCAGACCTAAATAAAATCTGGAGTGAACCATTTTATCAG___GAAACATATCTACCTTACATGATCCGCAGCAAGCTGAAGCTGCTGCTCCAGGGAGAGGCTGACCAGTCCCTGCTGACATTTATTGACAAAGCTATGCACGGGGAGCTCCAGAAGGCGATTCTAGAGCTTCATTACAGTCAAGAGCTGAGTCTGCTTTACCTCCTGCAAGATGATGTTGACAGAGCCAAATATTACATTCAAAATGGCATTCAGAGTTTTATGCAG___AATTATTCTAGTATTGATGTCCTCTTACACCAAAGTAGACTCACCAAATTGCAGTCTGTACAGGCTTTAACAGAAATTCAGGAGTTCATCAGCTTTATAAGCAAACAAG___GCAATTTATCATCTCAAGTTCCCCTTAAGAGACTTCTGAACACCTGGACAAACAGATATCCAGATGCTAAAATGGACCCAATGAACATCTGGGATGACATCATCACAAATCG___ATGTTTCTTTCTCAGCAAAATAGAGGAGAAGCTTACCCCTCTTCCAGAAGATAATAGTATGAATGTGGATCAAGATGGAGACCCCAGTGACAGGATGGAAGTGCAAGAGCAGGAAGAAGATATCAGCTCCCTGATCAGGAGTTGCAAGTTTTCCATGAAAATGAAGATGATAGACAGTGCCCGGAAGCAG___AACAATTTCTCACTTGCTATGAAACTACTGAAGGAGCTGCATAAAGAGTCAAAAACCAGAGACGATTGGCTGGTGAGCTGGGTGCAGAGCTACTGCCGCCTGAGCCACTGCCGGAGCCGGTCCCAGGGCTGCTCTGAGCAGGTGCTCACTGTGCTGAAAACAGTCTCTTTGTTGG___ATGAGAACAACGTGTCAAGCTACTTAAGCAAAAATATTCTGGCTTTCCGTGACCAGAACATTCTCTTGGGTACAACTTACAGGATCATAGCGAATGCTCTCAGCAGTGAGCCAGCCTGCCTTGCTGAAATCGAGGAGGACAAGGCTAGAAGAATCTTAGAGCTTTCTGGATCCAGTTCAGAGGATTCAGAGAAG___GTGATCGCGGGTCTGTACCAGAGAGCATTCCAGCACCTCTCTGAGGCTGTGCAGGCGGCTGAGGAGGAGGCCCAGCCTCCCTCCTGGAGCTGTGGGCCTGCAGCTGGGGTGATTGATGCTTACATGACGCTGGCAGATTTCTGTGACCAACAGCTGCGCAAGGAGGAAGAGAATGCATCAG___TTATTGATTCTGCAGAACTGCAGGCGTATCCAGCACTTGTGGTGGAGAAAATGTTGAAAGCTTTAAAATTAAATTCCAATGAAGCCAGATTGAAGTTTCCTAGATTACTTCAGATTATAGAACGGTATCCAGAGGAGACTTTGAGCCTCATGACAAAAGAG___ATCTCTTCCGTTCCCTGCTGGCAGTTCATCAGCTGGATCAGCCACATGGTGGCCTTACTGGACAAAGACCAAGCCGTTGCTGTTCAGCACTCTGTGGAAGAAATCACTGATAACTACCCGCAGGCTATTGTTTATCCCTTCATCATAAGCAGCGAAAGCTATTCCTTCAAGGATACTTCTACTGGTCATAAGAATAAGGAGTTTGTGGCAAG___GATTAAAAGTAAGTTGGATCAAGGAGGAGTGATTCAAGATTTTATTAATGCCTTAGATCAGCTCTCTAATCCTGAACTGCTCTTTAAG___GATTGGAGCAATGATGTAAGAGCTGAACTAGCAAAAACCCCTGTAAATAAAAAAAACATTGAAAAAATGTATGAAAGAATGTATGCAGCCTTGGGTGA)CCCAAAGGCTCCAGGCCTGGGGGCCTTTAGAAGGAAGgTTAgTCAG___ACTTTTGGAAAAGAATTTGATAAACATTTTGGGAAAGGAGGTTCTAAACTACTGAGAATGAAGCTCAGTGACTTCAACGACATTACCAACATGCTACTTTTAAAAATGAACAAAGACTCAAAGCCCCCTGGGAATCTGAAAGAATGTTCACCCTGGATGAGCGACTTCAAAGTGGAGTTCCTGAGAAATGAGCTGGAGATTCCCG___GTCAGTATGACGGTAGGGGAAAGCCATTGCCAGAGTACCACGTGCGAATCGCCGGGTTTGATGAGCGG|GACTGAATACTGTCCCCTCTTGGACACGAGTCTTGATTTATAAAGCATTTACATGAGTGGATTAGAAAAACACCAGAATAACAGTCAAGTGGCCAAAGGACATGGCCAGAAAAACCACCAAAAAGGACATATGAAATGCTTGAAAAAGTGTTCAATCTCTTTAATTTAAAAAATGCAAATTAAAATGAGATGTCATTTATCTTCTAAAG MAGSGAGVRCSLLRLQETLSAADRCGAALAGHQLIRGLGQECVLSSSPAVLALQTSLVFSRDFGLLVFVRKSLNSIEFRECREEILKFLCIFLEKMGQKIAPYSVEIKNTCTSVYTKDRAAKCKIPALDLLIKLLQTFRSSRLMDEFKIGELFSKFYGELALKKKIPDTVLEKVYELLGLLGEVHPSEMINNAENLFRAFLGELKTQMTSAVREPKLPVLAGCLKGLSSLLCNFTKSMEEDPQTSREIFNFVLKAIRPQIDLKRYAVPSAGLRLFALHASQFSTCLLDNYVSLFEVLLKWCAHTNVELKKAALSALESFLKQVSNMVAKNAEMHKNKLQYFMEQFYGIIRNVDSNNKELSIAIRGYGLFAGPCKVINAKDVDFMYVELIQRCKQMFLTQTDTGDDRVYQMPSFLQSVASVLLYLDTVPEVYTPVLEHLVVMQIDSFPQYSPKMQLVCCRAIVKVFLALAAKGPVLRNCISTVVHQGLIRICSKPVVLPKGPESESEDHRASGEVRTGKWKVPTYKDYVDLFRHLLSSDQMMDSILADEAFFSVNSSSESLNHLLYDEFVKSVLKIVEKLDLTLEIQTVGEQENGDEAPGVWMIPTSDPAANLHPAKPKDFSAFINLVEFCREILPEKQAEFFEPWVYSFSYELILQSTRLPLISGFYKLLSITVRNAKKIKYFEGVSPKSLKHSPEDPEKYSCFALFVKFGKEVAVKMKQYKDELLASCLTFLLSLPHNIIELDVRAYVPALQMAFKLGLSYTPLAEVGLNALEEWSIYIDRHVMQPYYKDILPCLDGYLKTSALSDETKNNWEVSALSRAAQKGFNKVVLKHLKKTKNLSSNEAISLEEIRIRVVQMLGSLGGQINKNLLTVTSSDEMMKSYVAWDREKRLSFAVPFREMKPVIFLDVFLPRVTELALTASDRQTKVAACELLHSMVMFMLGKATQMPEGGQGAPPMYQLYKRTFPVLLRLACDVDQVTRQLYEPLVMQLIHWFTNNKKFESQDTVALLEAILDGIVDPVDSTLRDFCGRCIREFLKWSIKQITPQQQEKSPVNTKSLFKRLYSLALHPNAFKRLGASLAFNNIYREFREEESLVEQFVFEALVIYMESLALAHADEKSLGTIQQCCDAIDHLCRIIEKKHVSLNKAKKRRLPRGFPPSASLCLLDLVKWLLAHCGRPQTECRHKSIELFYKFVPLLPGNRSPNLWLKDVLKEEGVSFLINTFEGGGCGQPSGILAQPTLLYLRGPFSLQATLCWLDLLLAALECYNTFIGERTVGALQVLGTEAQSSLLKAVAFFLESIAMHDIIAAEKCFGTGAAGNRTSPQEGERYNYSKCTVVVRIMEFTTTLLNTSPEGWKLLKKDLCNTHLMRVLVQTLCEPASIGFNIGDVQVMAHLPDVCVNLMKALKMSPYKDILETHLREKITAQSIEELCAVNLYGPDAQVDRSRLAAVVSACKQLHRAGLLHNILPSQSTDLHHSVGTELLSLVYKGIAPGDERQCLPSLDLSCKQLASGLLELAFAFGGLCERLVSLLLNPAVLSTASLGSSQGSVIHFSHGEYFYSLFSETINTELLKNLDLAVLELMQSSVDNTKMVSAVLNGMLDQSFRERANQKHQGLKLATTILQHWKKCDSWWAKDSPLETKMAVLALLAKILQIDSSVSFNTSHGSFPEVFTTYISLLADTKLDLHLKGQAVTLLPFFTSLTGGSLEELRRVLEQLIVAHFPMQSREFPPGTPRFNNYVDCMKKFLDALELSQSPMLLELMTEVLCREQQHVMEELFQSSFRRIARRGSCVTQVGLLESVYEMFRKDDPRLSFTRQSFVDRSLLTLLWHCSLDALREFFSTIVVDAIDVLKSRFTKLNESTFDTQITKKMGYYKILDVMYSRLPKDDVHAKESKINQVFHGSCITEGNELTKTLIKLCYDAFTENMAGENQLLERRRLYHCAAYNCAISVICCVFNELKFYQGFLFSEKPEKNLLIFENLIDLKRRYNFPVEVEVPMERKKKYIEIRKEAREAANGDSDGPSYMSSLSYLADSTLSEEMSQFDFSTGVQSYSYSSQDPRPATGRFRRREQRDPTVHDDVLELEMDELNRHECMAPLTALVKHMHRSLGPPQGEEDSVPRDLPSWMKFLHGKLGNPIVPLNIRLFLAKLVINTEEVFRPYAKHWLSPLLQLAASENNGGEGIHYMVVEIVATILSWTGLATPTGVPKDEVLANRLLNFLMKHVFHPKRAVFRHNLEIIKTLVECWKDCLSIPYRLIFEKFSGKDPNSKDNSVGIQLLGIVMANDLPPYDPQCGIQSSEYFQALVNNMSFVRYKEVYAAAAEVLGLILRYVMERKNILEESLCELVAKQLKQHQNTMEDKFIVCLNKVTKSFPPLADRFMNAVFFLLPKFHGVLKTLCLEVVLCRVEGMTELYFQLKSKDFVQVMRHRDDERQKVCLDIIYKMMPKLKPVELRELLNPVVEFVSHPSTTCREQMYNILMWIHDNYRDPESETDNDSQEIFKLAKDVLIQGLIDENPGLQLIIRNFWSHETRLPSNTLDRLLALNSLYSPKIEVHFLSLATNFLLEMTSMSPDYPNPMFEHPLSECEFQEYTIDSDWRFRSTVLTPMFVETQASQGTLQTRTQEGSLSARWPVAGQIRATQQQHDFTLTQTADGRSSFDWLTGSSTDPLVDHTSPSSDSLLFAHKRSERLQRAPLKSVGPDFGKKRLGLPGDEVDNKVKGAAGRTDLLRLRRRFMRDQEKLSLMYARKGVAEQKREKEIKSELKMKQDAQVVLYRSYRHGDLPDIQIKHSSLITPLQAVAQRDPIIAKQLFSSLFSGILKEMDKFKTLSEKNNITQKLLQDFNRFLNTTFSFFPPFVSCIQDISCQHAALLSLDPAAVSAGCLASLQQPVGIRLLEEALLRLLPAELPAKRVRGKARLPPDVLRWVELAKLYRSIGEYDVLRGIFTSEIGTKQITQSALLAEARSDYSEAAKQYDEALNKQDWVDGEPTEAEKDFWELASLDCYNHLAEWKSLEYCSTASIDSENPPDLNKIWSEPFYQETYLPYMIRSKLKLLLQGEADQSLLTFIDKAMHGELQKAILELHYSQELSLLYLLQDDVDRAKYYIQNGIQSFMQNYSSIDVLLHQSRLTKLQSVQALTEIQEFISFISKQGNLSSQVPLKRLLNTWTNRYPDAKMDPMNIWDDIITNRCFFLSKIEEKLTPLPEDNSMNVDQDGDPSDRMEVQEQEEDISSLIRSCKFSMKMKMIDSARKQNNFSLAMKLLKELHKESKTRDDWLVSWVQSYCRLSHCRSRSQGCSEQVLTVLKTVSLLDENNVSSYLSKNILAFRDQNILLGTTYRIIANALSSEPACLAEIEEDKARRILELSGSSSEDSEKVIAGLYQRAFQHLSEAVQAAEEEAQPPSWSCGPAAGVIDAYMTLADFCDQQLRKEEENASVIDSAELQAYPALVVEKMLKALKLNSNEARLKFPRLLQIIERYPEETLSLMTKEISSVPCWQFISWISHMVALLDKDQAVAVQHSVEEITDNYPQAIVYPFIISSESYSFKDTSTGHKNKEFVARIKSKLDQGGVIQDFINALDQLSNPELLFKDWSNDVRAELAKTPVNKKNIEKMYERMYAALGDPKAPGLGAFRRKvsQTFGKEFDKHFGKGGSKLLRMKLSDFNDITNMLLLKMNKDSKPPGNLKECSPWMSDFKVEFLRNELEIPGQYDGRGKPLPEYHVRIAGFDER|d* 604 ENSG00000120802.13 ENSG00000185046.18 +/+ -/+ chr12:98531838 chr12:99031448 CDS/splice-site intron deletion/5'-5' 39 36 5 193 156 high out-of-frame . LEM_domain(100%),Thymopoietin_protein(100%)| . . ENSG00000120802.13 ENSG00000185046.18 ENST00000556029.5 . downstream upstream duplicates(18),mismappers(2),mismatches(2) ^(CGCGAGCCGTCTCGCCAATCACCGCCGCGCTTCCTCCCGTCGCCCGCCAATGGCGGCGCGCGTTCTTGGGGCGTGGGCGAAGCAGGCTGCTCGCCTCCTGCCTGTAGTGTGTGGGCTGGGGTTGGTGCGAGCTTCCAGCTTGGCCGCAGTTGGTTCGTAGTTCGGCTCTGGGGTCTTTTGTGTCCGGGTCTGGCTTGGCTTTGTGTCCGCGAGTTTTTGTTCCGCTCCGCAGCGCTCTTCCCGGGCAGGAGCCGTGAGGCTCGGAGGCGGCAGCGCGGTCCCCGGCCAGGAGCAAGCGCGCCGGCGTGAGCGGCGGCGGCAAAGGCTGTGGGGAGGGGGCTTCGCAGATCCCCGAGATGCCGGAGTTCCTGGAAGACCCCTCGGTCCTGACAAAAGACAAGTTGAAGAGTGAGTTGGTCGCCAACAATGTGACGCTGCCGGCCGGGGAGCAGCGCAAAGACGTGTACGTCCAGCTCTACCTGCAGCACCTCACGGCTCGCAACCGGCCGCCGCTCCCCGCCGGCACCAACAGCAAGGGGCCCCCGGACTTCTCCAGTGACGAAGAGCGCGAGCCCACCC)CGGTCCTCGGCTCTGGGGCCGCCGCCGCGGGCCGGAGCCGAGCAGCCGTCGGCAGG___AAAGCCACAAAAAAAACTGATAAACCCAGACAAGAAGATAAAGATGATCTAGATGTAACAGAGCTCACTAATGAAGATCTTTTGGATCAGCTTGTGAAATACGGAGTGAATCCTGGTCCTATTGTGG___GAACAACCAGGAAGCTATATGAGAAAAAGCTTTTGAAACTGAGGGAACAAGGAACAGAATCAAGATCTTCTACTCCTCTGCCAACAATTTCTTCTTCAGCAGAAAATACAAGGCAGAATGGAAGTAATGATTCTGACAGATACAGTGACAATGAAGAAG|AGCCTGGAAAAAGCTAAGACACACTTTCCCAGTCTCCTGCAAGTTGGACGGTGGCTGTGTGACATGGTCTGGCCAATGAGGTGTAAACCTGAGTCTGCTGGAAAGATACTGGAAGAACTTTTGATATCCTGATAAAAGGAACACACATCTCTATCATTGCTCCCTTTCCCCTTCCTCCATCTGGGAATGCAGATGTGATGACAGAAGCTGCCATAGCCACTCTGCAGTCATGAGGCAAAAAACACAAAAGCA MPEFLEDPSVLTKDKLKSELVANNVTLPAGEQRKDVYVQLYLQHLTARNRPPLPAGTNSKGPPDFSSDEEREPTPVLGSGAAAAGRSRAAVGRKATKKTDKPRQEDKDDLDVTELTNEDLLDQLVKYGVNPGPIVGTTRKLYEKKLLKLREQGTESRSSTPLPTISSSAENTRQNGSNDSDRYSDNEE|epgks* 604 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 17 16 0 40 42 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(4),mismatches(1) ATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAG(GACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 604 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 12 7 1 40 34 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(6) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAAT)GCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGtAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIvEGAAHSQICP|gysfrrrtlqmegmqes* 604 ENSG00000117625.13 ENSG00000082512.15 +/+ +/+ chr1:211295753 chr1:211369452 CDS/splice-site CDS/splice-site deletion/read-through 8 6 0 51 37 high in-frame . ELM2_domain(100%),Myb-like_DNA-binding_domain(100%)| . . ENSG00000117625.13 ENSG00000082512.15 ENST00000367005.8 ENST00000336184.6 downstream upstream duplicates(6) ^(GAGTTGATATCTTCCCATCCACCCGCCGCTTCTTTCCTCCATCTAGCGATTTTTATTTTTTAAGTGTCTCTTCCTTTTTCTTTCTTTTCTTCTTTTTTATTTTTTATATATATTTTTTGGCATTGCTTTGCAGATGTTGGGATGAGAGTCGGAGCCGAATACCAAGCTCGGATCCCTGAATTTGATCCAG___GTGCTACAAAGTACACAGATAAAGACAATGGAGGGATGCTTGTATGGTCTCCATATCACAGTATCCCAGATGCCAAAT___TGGATGAATACATTGCAATTGCAAAGGAAAAGCATGGCTACAATGTGGAACAG___GCACTTGGCATGTTGTTCTGGCATAAACATAACATTGAGAAGTCCCTTGCTGATCTCCCTAATTTCACTCCCTTTCCGGATGAGTGGACAGTGGAAGATAAAGTCCTATTTGAACAAGCCTTTAGTTTTCATGGAAAGAGCTTTCACAGGATTCAGCAAATG___CTTCCAGATAAGACAATTGCAAGCCTTGTAAAATATTACTATTCTTGGAAAAAAACTCGCTCTAGGACAAGTTTGATGGATCGCCAGGCTCGTAAACTAGCTAATAGACATAATCAGGGTGACAG___TGATGATGATGTAGAAGAAACACATCCAATGGATGGGAATGATAGTGATTATGATCCCAAAAAAGAAGCCAAAAAAGAG___GGTAATACTGAACAACCTGTCCAAACTAGCAAGATTGGACTTGGAAGAAGAGAGTATCAGAGTTTACAACATCGCCATCATTCTCAGCGTTCTAAGTGCCGTCCACCTAAGGGCATGTATTTAACCCAGG)AAGATGTGGTAGCAGTTTCCTGTAGTCCCAATGCAGCCAACACCATCCTGAGGCAACTGGACATGGAGTTGATCTCTCTAAAACGTCAG___GTTCAGAATGCTAAGCAAGTAAACAGTGCACTTAAACAGAAAATGGAAGGTGGAATTGAAGAATTCAAACCTCCTGAG|ATTTCTGACTTACACAAGAGCCTAGAACAGAAAGAAAGTAAAATCCAGCAGCTAGCAGAAACTATAAAGAAACTTGAAAAGGAGTTCAAGCAGTTTGCACAGTTGTTTGGCAAAAATGGAAGCTTCCTCCCAAACATCCAG___GTTTTTGCCAGTCACATTGACAAGTCAGCTTGGCTAGAAGCTCAAGTGCATCAATTATTACAAATGGTTAACCAGCAAC(AAAATAAATTTGACCTGAGACCTTTGATGGAAGCAGTTGATACAGTGAAACAGAAAATTACCCTGCTAGAAAACAATGATCAAAGATTAG___CCGTTTTAGAAGAGGAAACTAACAAACATGATACCCACATTAATATTCATAAAGCACAGCTGAGTAAAAATGAAGAGCGATTTAAACTGCTGGAGGGTACTTGCTATAATGGAAAGCTCATTTGGAAGGTGACAGATTACAAGATGAAGAAGAGAGAGGCGGTGGATGGGCACACAGTGTCCATCTTCAGCCAGTCCTTCTACACCAGCCGCTGTGGCTACCGGCTCTGTGCTAGAGCATACCTGAATGGGGATGGGTCAGGGAGGGGGTCACACCTGTCCCTATACTTTGTGGTCATGCGAGGAGAGTTTGACTCACTGTTGCAGTGGCCATTCAGGCAGAGGGTGACCCTGATGCTTCTGGACCAGAGTGGCAAAAAGAACATTATGGAGACCTTCAAACCTGACCCCAATAGCAGCAGCTTTAAAAGACCTGATGGGGAGATGAACATTGCATCTGGCTGTCCCCGCTTTGTGGCTCATTCTGTTTTGGAGAATGCCAAGAACGCCTACATTAAAGATGACACTCTGTTCTTGAAAGTGGCCGTGGACTTAACTGACCTGGAGGATCTCTAGTCACTGTTATGGGGTGATAAGAGGACTTCTTGGGGCCAGAACTGTGGAGGAGAGCACATTTGATTATCATATTGACCTGGATTTAGACTCAAAGCACATTTGTATTTGCCTTTTTCCTTAACGTTTGAAGTCAGTTTAAAACTTCTGAAGTGCTGTCTTTTTACATTTTACTCTGTCCCAGTTTGAAACTTAAAACTCTTAGAATATTCTCTTATTATTTATATTTTTATATTTCTTGAAAGATGGTAAGTTTCTTGAAGTTTTTGGGGCGTTTCTCTTTTACTGGTGCTTAGCGCAGTGTCTCGGGCACTCTAAATATTGAGTGTTATGGAGGACACAGAGGTAGCAGAATCCCAGTTGAAAATGTTTTGATATTTTATTGTTTGGCCTATTGATTCTAGACCTGGCCTTAAGTCTGCAAAAGCCATCTTTATAAGGTAGGCTGTTCCAGTTAAGTAGTGGGTGATGTAGTTACAAAGATAATATGCTCAGTTTGGACCTTTTTTTCAGTTAAATGCTAAATATATGAAAATTACTATACCTCTAAGTATTTTCATGAAATTCACCAGCAGTTTGCAAGCACAGTTTTGCAAGGCTGCATAAGAACTGGTGAATGGGGTAAGCATTTTCATTCTTCCTGCTGAAGTAAAGCAGAAAGTACTGCATAGTATATGAGATATAGCCAGCTAGCTAAAGTTCAGATTTTGTTAGGTTCAACCCTATGAAAAAAACTATTTTCATAGGTCAAAAATGGTAAAAAATTAGCAGTTTCATAAGATTCAACCAAATAAATATATATATACACACACACATACATATACACCTATATATGTGTGTATACAAACAGTTCGAATGTATTTTGGTGACAGTAATAAATCAATGTGAGGATGGATAGAATTTAGTATATGATAGAGAAAATGTCATAAATGGATAAAAGGAATTTACAACTTGAGGAGAAAACCTTTACAATTTCCTATGGGTGTCAGAAGTACTCTCAGCGAAAACTGATGGCTAAAACAGTATCTACTATTCTCTGATAACTTTTTTTTTGAGACAGAGTTTCATTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAAACTCTGCCTCCCGAATTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGTCACCACACCCAGGTAATTTTTGTATTTTTAGTAGAGACGGAGTTTTGCCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGACCCACCGCGTCAAGCCTCTGACAACTATTGAATTTGTAAGCTGCTATGCAAATGGGCATTTATATAAACTTGTGATGTTTCTTGTCAGAATTCTGAGTACTCTGTGAAGAACAGAAATGATCATATTCTTATGCATCTATCTGTATGGGTCTGAAGGTGTATATACAAACTGAGATGAGTCCTTATGACTCTTGATAAGCCTGAGTTTAACAACAACAAAAATGCCAAGTTGTCCTGAGCCCTTCTGCGTTGTTATGCCACTTCCCTACTGCTCATATGCACGCTGGCTCCCCTGGGCACGCAAGGATGAGTATGGGCCATGGGCCCCTGTAGAGCTGCTTACCTGGTGATGACCATGCACCTTACAATTTCTGAACAGTTAACCCTATAGAAGCATGCTTTATATGAGTGTCTTCTGGGAAGAGGAACCTTCTTAATCTCTTCTGTGGGATTTTCAAAATGCTAAAGACTCACACTGCAGCAATCATCCCAGATGATTAAATTCAAAGAAATAGGTTCACAACAGGAATATACTGAAGAACTAGAGTGTCACTGCTGGTGAACTGTGGCACGGTTGCTCAACACATCACCTCGGACAAATTCAGGAAGCATTTCTTTAGCCCACAAGTCCAGACCCAGGTGCTCTGTATGTTTGTTTTTAATATTCATCATATCCAAGTTCACTCTGTCTTCCTGAGCAGTGGAAGATCATATTGCTGTAACTTCTTTTAAGTAGTTGATGTGGAAAACATTTTAAAGTGAATTTGTCAAAATGCTGGTTTTGTGTTTTATCCAACTTTTGTGCATATATATAAAGTATGTCATGGCATGGTTTGCTTAGGAGTTCAGAGTTCCTTCATCATCGAAATAGTGATTAAGTGATCCCAGAACAAGGAATACTAGAGTAAAAAGCACCTCTTTTTC)$ MRVGAEYQARIPEFDPGATKYTDKDNGGMLVWSPYHSIPDAKLDEYIAIAKEKHGYNVEQALGMLFWHKHNIEKSLADLPNFTPFPDEWTVEDKVLFEQAFSFHGKSFHRIQQMLPDKTIASLVKYYYSWKKTRSRTSLMDRQARKLANRHNQGDSDDDVEETHPMDGNDSDYDPKKEAKKEGNTEQPVQTSKIGLGRREYQSLQHRHHSQRSKCRPPKGMYLTQEDVVAVSCSPNAANTILRQLDMELISLKRQVQNAKQVNSALKQKMEGGIEEFKPPE|ISDLHKSLEQKESKIQQLAETIKKLEKEFKQFAQLFGKNGSFLPNIQVFASHIDKSAWLEAQVHQLLQMVNQQQNKFDLRPLMEAVDTVKQKITLLENNDQRLAVLEEETNKHDTHINIHKAQLSKNEERFKLLEGTCYNGKLIWKVTDYKMKKREAVDGHTVSIFSQSFYTSRCGYRLCARAYLNGDGSGRGSHLSLYFVVMRGEFDSLLQWPFRQRVTLMLLDQSGKKNIMETFKPDPNSSSFKRPDGEMNIASGCPRFVAHSVLENAKNAYIKDDTLFLKVAVDLTDLEDL* 604 ENSG00000156639.12 ENSG00000226533.1 +/+ +/+ chr6:38061775 chr6:38482067 CDS/splice-site exon/splice-site deletion 5 7 1 101 18 high out-of-frame . A20-like_zinc_finger(100%)| . . ENSG00000156639.12 ENSG00000226533.1 ENST00000287218.9 ENST00000412822.1 downstream upstream duplicates(1) ^(CTCCCCGTCTCCGCAGGCCGAGTGGTGCGGCCCGCCTCCAGCTGACCGGCCTGGAATCCCGGCTCCGAGCCCCGGACTCGCGCCCGCCCGCGCGCCCGCTCCTTCCCCCTCCCCCCGCCCCGAGCCCCCCGACGCCGCCGCCACCGCCTCCTCAGAGCGGGGCCCGGGCCCAGCCGCCGCCACCGCTGCCGCCGCCGAGCTCCGCCGCCGCCGAGCACCATGGGAGACGCTGGGAGCGAGCGCAGCAAAGCGCCCAGCCTGCCGCCTCGCTGTC)CCTGCGGCTTCTGGGG___GTCCAGCAAGACTATGAATCTCTGTTCCAAATGCgTTGCTG___ATTTTCAAAAGAAACAGCCAGACGATGATTCCGCTCCAAGTACAAGTAACAGCCAATCAGATTTGTTTTCCGAAGAGACCACCAGTGACAACAACAATACCTCGATAACCACGCCAACTCTTAGTCCCAGCCAGCAGCCGCTTCCGACAGAACTGAATGTAACTTCACCGAGTAAAGAGGAGT|TCCAAGAAGAAAGCATTTGGAGAAGTGCTACACATGCTCAACTGAACTTCCTGTCAAATTGTTCTCACTCGTTTGGGCACAAGTCTGCTTAAGCCATCTCTCATTAACATTTACTCTTGCCCGAAGCCCTCTACGCCCCCAACCCCTGCTAATCTTCCACAAGCAAGCTGATCACACTGGGATCTCCTTTTCCCAGACACGTTTGATTCTCACTTTCTCCTGAACCTAGAAATGTGCTTCCCACCAAAGCATGCCAGG(CACTAACTCGTCCCTACTGAAAGGGGCTGTTAAAAGCTCATCTTCTTTCCAGATGGTAGTGAGGTGTGAGGTGATCCTTTCTCTTTCTTTTTTTTTTTTTTTTACTTTTAGCTACCCCTCAATTCTGGTGTTCAGTAACAATGTATTCCACTTAAAAGAGAGAAATCATATTAATTATTCTAAGATATAAACACTTAATTTTATTCA)$ MGDAGSERSKAPSLPPRCPCGFWGSSKTMNLCSKCvADFQKKQPDDDSAPSTSNSQSDLFSEETTSDNNNTSITTPTLSPSQQPLPTELNVTSPSKEE|fqeesiwrsathaqlnflsncshsfghksa* 604 ENSG00000123066.8 ENSG00000257683.1 -/- -/- chr12:115980750 chr12:115832638 CDS/splice-site exon/splice-site deletion/read-through 6 7 0 37 18 high out-of-frame . Mediator_complex_subunit_13_C-terminal(100%),Mediator_complex_subunit_13_N-terminal(100%)| . . ENSG00000123066.8 ENSG00000257683.1 ENST00000281928.8 ENST00000546414.1 upstream downstream . ^(GGGCCGAGCCGCGGTCGGCGGCCGCCATTGCTGTCAGAGCAAGCGAGCCCGGGGAGGGAGGAGAAGCGAGGCTGACTGGGGAGGAGGGGGGGGTGGGGGAGGAAGAGGAAGGAGGGGACGTCGCTCGGCTGCCGGGGTCGCCCGCTGGCTTCGTCCGCACCCCCCCCTTCGCGAGTTCGCGCTCCGCGGCGGCGGCGGCTCCGAGGCGGCGGCGGCGGCTCCGGGGCTCGCCTCCCCTCGCGCGCCGGCGGGGGCCGAGGGGGAGTCGGTGGCTGGAGATAAACAAGGCGGCGGCAGCGGCAGCAGCGGCGGCGGCGGCGGCTGAGGAGCAGGGAAGGCGGAGGCGGTGGCCGGCCCGCAGCGCCGGCCCGGGGCGCGCGCCCCCCCCGCCAGCCCGGGCCCGCTGCCCCCGGCGCGGCGTCGCCGCGGCGCCTCCCGCCTGCCCGCCGGCCCTCGCGCCCTCCCCCGGCGGCGGCGGCGGCCCGGCCGCCCCGCGCTCCCCGGCGAGGCGCCGCCGCCCGGCCCGGCCTCGCCTCGGACGCCTCGCTCCGACATGCCCCGCTCTGGCGGCCGGGCTCGCGGAGGATCATGACTGCGGCAGCGAACTGGGTGGCGAACGGGGCGAGCCTGGAGGATTGTCACTCCAACCTCTTTTCGCTG___GCTGAACTCACGGGAATCAAATGGCGTAGGTACAATTTTGGAGGGCATGGGGACTGTGGACCCATAATTTCAGCCCCAGCCCAAGATGATCCAATTCTGTTAAGTTTCATCCGCTGTCTGCAAGCTAACCTGCTTTGTGTATGGCGTCGTGATGTCAAACCAGATTGCAAAGAGTTATGGATATTCTGGTGGGGAGATGAACCCAACCTAGTGGGTGTAATACATCATGAACTGCAGG___TTGTGGAAGAAGGACTCTGGGAAAATGGCCTTTCCTATGAATGTAGGACGCTGCTCTTCAAAGCGATCCACAATCTGTTAGAAAG___GTGCCTAATGGATAAGAACTTCGTTAGGATTGGGAAATGGTTTGTCCGACCCTACGAAAAGGATGAAAAGCCAGTCAACAAAAG___TGAGCATTTGTCCTGTGCTTTCACATTCTTTCTGCATGGAGAAAGTAATGTATGCACAAGTGTGGAGATTGCCCAGCACCAGCCAATTTATTTGATCAATGAGGAGCATATACACATGGCTCAGTCTTCACCTGCACCATTTCAAG___TACTGGTAAGTCCTTATGGCTTAAATGGGACGCTAACAGGCCAAGCATACAAGATGTCAGACCCAGCCACTCGTAAGTTGATTGAGGAATGGCAGTATTTCTACCCGATGGTGCTAAAAAAGAAAGAAGAATCGAAAGAGGAAGACGAGTTGGGATATGATGATGATTTCCCTGTGGCAGTTGAAGTAATTGTTG___GTGGTGTTCGGATGGTTTACCCTTCAGCATTTGTTTTGATCTCTCAGAATGACATCCCGGTTCCTCAGAGTGTTGCCAGTGCTGGAGGCCACATTGCAGTTGGGCAGCAAGGGCTTGGTAGTGTGAAGGACCCAAGTAACTGTGGGATGCCTCTGACCCCTCCCACCTCTCCAGAACAGGCTATCCTAG___GTGAGAGTGGAGGTATGCAGAGTGCTGCCAGTCACCTGGTTTCCCAAGATGGAGGGATGATAACGATGCACAGTCCAAAGAGATCGGGGAAGATTCCTCCAAAACTCCACAATCATATGGTCCATCGAGTCTGGAAGGAATGCATCCTCAACAGAACCCAGTCCAA___GAGGAGCCAAATGTCAACTCCAACTCTTGAAGAAGAGCCTGCTAGCAATCCTGCTACTTGGGATTTTGTGGATCCAACCCAAAGAGTCAGCTGTTCTTGTTCCAG___GCATAAGCTTTTAAAACGTTGTGCAGTCGGGCCCAATCGACCTCCCACAGTATCTCAACCAGGGTTCAGTGCAGGACCATCATCATCTTCATCTTTACCACCTCCTGCTTCTTCTAAGCACAAAACAGCAGAAAGACAGGAAAAAGGAGACAAGCTGCAAAAGAGACCCTTAATACCATTTCACCATAGGCCCTCTGTGGCCGAAGAATTATGCATGGAGCAAGATACACCAGGACAGAAACTAGGGTTGGCAGGGATAGACTCCTCCTTAGAGGTGTCTAGCAGTAGGAAATATGATAAGCAAATGGCCGTGCCTTCCAGAAATACAAGCAAGCAAATGAATCTGAATCCTATGGATTCACCTCATTCCCCTATATCCCCTCTGCCACCAACACTCAGCCCTCAGCCACGAGGTCAGGAAACAGAGAGTTTGGACCCACCATCGGTCCCTGTGAATCCAGCCCTTTATGGAAATGGACTAGAACTCCAGCAGTTGTCTACTCTGGATGACAGAACTGTCCTCGTAGGCCAAAGACTGCCTCTCATGGCAGAGGTCAGCGAGACAGCCTTATATTGTGGGATTAGGCCCTCGAACCCGGAGTCATCAGAAAAGTGGTGGCATAGTTATCGTCTCCCACCCAGTGATGATGCTGAGTTCAGGCCTCCAGAGCTCCAGGGTGAGAGATGTGATGCCAAAATGGAGGTAAACTCAGAGAGCACTGCATTGCAAAG___ACTCTTAGCACAACCTAACAAACGGTTTAAAATCTGGCAAGACAAACAGCCCCAGTTGCAGCCACTCCACTTCCTTGACCCATTGCCTCTATCACAACAACCTGGAGACAGTTTGGGAGAAGTGAATGACCCATATACCTTTGAAGATGGTGACATAAAATACATCTTTACAGCCAACAAGAAATGCAAACAAGGGACGGAGAAAGATTCCCTGAAAAAGAATAAG___TCAGAGGATGGATTTGGTACCAAGGATGTCACTACACCAGGTCATTCCACGCCGGTGCCTGATGGGAAAAATGCCATGTCTATTTTCAGTTCTGCTACTAAAACAG___ATGTCCGGCAGGATAATGCTGCTGGCAGAGCTGGCTCCAGTAGCCTTACACAGGTAACAGATTTGGCACCTTCCCTGCATGACTTAGACAACATCTTTGATAATTCTGATGACGACGAACTTGGG___GCTGTATCACCTGCTCTGCGCTCATCAAAAATGCCTGCAGTTGGGACAGAAGACCGACCTCTTGGGAAGGATGGAAGAGCTGCTGTTCCTTATCCACCAA___CAGTTGCAGACTTGCAAAGGATGTTTCCCACTCCACCATCTTTGGAACAGCATCCTGCATTTTCTCCTGTGATGAATTATAAAGATGGGATCAGCTCAGAGACAGTGACAGCATTAGGCATGATGGAGAGCCCTATGGTCAGTATGGTTTCAACACAACTCACAGAATTCAAAATGGAAGTGGAAGATGGATTAGGAAGTCCCAAGCCCGAGGAAATTAAG___GACTTTTCATATGTGCACAAAGTTCCATCCTTTCAACCTTTTGTGGGATCCTCCATGTTTGCTCCACTGAAGATGTTGCCGAGCCATTGTTTGCTACCTCTGAAGATACCTGATGCCTGTCTGTTTCGGCCTTCATGGGCAATTCCTCCTAAAATTGAACAACTGCCCATGCCCCCTGCAGCCACTTTCATTAGAGATGGCTACAA___TAACGTGCCTAGTGTTGGGAGCCTAGCAGATCCAGACTATCTGAACACACCACAGATGAACACACCCGTGACGTTGAACAGCGCTGCCCCAGCCAGCAATAGTGGGGCAGGAGTCCTACCATCTCCAGCAACCCCTCGCTTCTCTGTCCCCACACCACGAACCCCCAGGACCCCAAGAACTCCCAGAGGTGGGGGCACTGCCAGTGGTCAAGGGTCTGTTAAGTATGATAGCACCGATCAAGGATCACCAGCCTCCACCCCCTCTACTACACGGCCCCTCAACTCTGTGGAGCCCGCCACCATGCAGCCAATTCCCGAAGCCCACAGCCTCTATGTTACCCTGATTCTCTCCGATTCCGTGATGAATATCTTTAAAGACAGAAACTTTGACAGCTGTTGCATCTGTGCCTGCAACATGAACATCAAAGGGGCGGATGTCGGGCTTTACATCCCCGATTCTTCCAATGAGGACCAGTACCGCTGTACCTGTGGGTTTAGTGCGATTATGAACCGCAAACTTGGCTACAATTCAGGACTCTTCCTTGAAGATGAGTTGGATATTTTTGGGAAGAATTCTGATATTGGTCAGGCTGCAGAGAGGCGCTTAATGATGTGTCAGTCCACCTTCCTTCCTCAGGTGGAAGGAACCAAAAAACCCCAGGAGCCACCCATAAGCCTTCTCCTCCTCCTCCAGAATCAACACACACAACCTTTTGCTTCACTGAATTTCCTGGACTACATTTCCTCTAACAATCGCCAAACTCTTCCCTGTGTAAGCTGGAGTTATGACCGGGTGCAAGCAGATAATAATGATTACTGGACGGAATGCTTTAATGCGTTGGAGCAGGGGCGGCAGTATGTGGATAACCCCACTGGTGGAAAAGTGGACGAAGCTCTGGTGAGAAGTGCCACTGTGCACTCTTGGCCTCACAGCAATG___TGCTGGACATCAGCATGCTCTCCTCCCAGGATGTGGTTCGTATGCTGTTGTCCCTGCAGCCCTTTCTCCAAGATGCCATCCAAAAGAAGCGCACGGGCAGGACCTGGGAGAACATCCAGCATGTGCAGGGACCACTCACTTGGCAGCAGTTCCATAAAATGGCAGGACGGGGAACCTACG___GTTCGGAAGAATCTCCTGAGCCGTTGCCCATCCCCACTCTGCTGGTAGGCTATGACAAGGATTTCCTCACCATCTCGCCATTCTCCTTGCCGTTTTGGGAGAGGCTCTTGTTGGACCCATATGGGGGCCACCGTGATGTTGCCTATATTGTGGTGTGTCCAGAAAATGAGGCCTTGCTCGAAGGAGCCAAAACTTTCTTCAGGGACTTGAGTGCTGTATACGAG___ATGTGTAGGCTTGGGCAGCACAAGCCCATCTGCAAAGTGCTACGTGACGGGATCATGCGCGTGGGAAAAACTGTGGCACAGAAGCTGACAGATGAGCTTGTGAGTGAGTGGTTTAACCAGCCTTGGAGCGGCGAGGAGAATGACAATCATTCCAGACTCAAACTTTATGCGCAAGTTTGCCGCCATCACCTAG___CACCTTATTTAGCCACTCTGCAGCTTGATAGCAGCCTATTGATACCACCTAAATACCAGACCCCACCAGCAGCAGCACAGGGACAAGCTACGCCAGGGAATGCTGGGCCCTTAGCTCCAAATGGATCAGCAGCTCCCCCAGCTGGCAGTGCATTTAATCCCACCTCGAATAGTAGTTCTACAAATCCTGCAGCAAGTAGTTCTGCATCTGGTTCCTCTGTGCCACCGGTCTCATCGTCTGCCTCTGCTCCTGGTATTAGCCAGATAAGCACTACCTCTTCTTCAGGATTCAGTGGTAGTGTTGGAGGGCAGAACCCCAGCACTGGGGGCATTTCTGCGGATAGAACGCAAGGGAACATAGGCTGTGGTGGAGACACTGACCCTGGGCAGAGCTCTTCTCAGCCCTCACAGGATGGACAAGAGAG___TGTTACAGAAAGGGAGAGAATAGGAATTCCCACGGAGCCTGACTCTGCAGACAGCCATGCCCACCCTCCAGCTGTTGTCATTTACATGGTGGACCCGTTCACGTATGCTGCAGAGGAGGACTCCACTTCTGGGAACTTTTGGCTGTTGAGCTTGATGCGCTGCTACACAGAAAT)GCTGGATAATTTACCTGAGCATATGAGAAATTCTTTCATTCTCCAG___ATTGTGCCTTGCCAGTACATGCTGCAGACAATGAAGGATGAGCAAGTTTTCTACATTCAATACTTGAAGTCCATGGCATTTTCAGTGTACTGCCAGTGCAGGCGACCACTGCCTACACAGATCCACATTAAATCCCTCACGGGATTTGGGCCTGCAGCCAGCATTGAGATGACCCTCAAGAACCCTGAG|GCAAGGACACAAGAAGATGGCTGTCTACAAGCCAGGAAAAGATTCTGCACCAGGAACTGGATCAACTGGCACCTTGATCTTGGACTTCCCAGCCTCCAGAACTATGAGATGAGAAATAAGTGTCTATTGTTTAAGCCTCCCAGTCTATGGTATTTTGTTATAGCAACCCAAGATGACAAAGACAACAAGCCTAAAATGAAAAATGGCAAAGTAACC(AAGATGTCCTTCAAGAG___GGCTGTTTGTTGTCCAAAAAGCCTTTTTCCCTAAGCTTGAAAGCTTAACTTCTCAGAAGCAGGAAGCTGCCTTTTGCCAAGAGTAAATGGGTGAGAAGTCCAAAGGTCT)$ MTAAANWVANGASLEDCHSNLFSLAELTGIKWRRYNFGGHGDCGPIISAPAQDDPILLSFIRCLQANLLCVWRRDVKPDCKELWIFWWGDEPNLVGVIHHELQVVEEGLWENGLSYECRTLLFKAIHNLLERCLMDKNFVRIGKWFVRPYEKDEKPVNKSEHLSCAFTFFLHGESNVCTSVEIAQHQPIYLINEEHIHMAQSSPAPFQVLVSPYGLNGTLTGQAYKMSDPATRKLIEEWQYFYPMVLKKKEESKEEDELGYDDDFPVAVEVIVGGVRMVYPSAFVLISQNDIPVPQSVASAGGHIAVGQQGLGSVKDPSNCGMPLTPPTSPEQAILGESGGMQSAASHLVSQDGGMITMHSPKRSGKIPPKLHNHMVHRVWKECILNRTQSKRSQMSTPTLEEEPASNPATWDFVDPTQRVSCSCSRHKLLKRCAVGPNRPPTVSQPGFSAGPSSSSSLPPPASSKHKTAERQEKGDKLQKRPLIPFHHRPSVAEELCMEQDTPGQKLGLAGIDSSLEVSSSRKYDKQMAVPSRNTSKQMNLNPMDSPHSPISPLPPTLSPQPRGQETESLDPPSVPVNPALYGNGLELQQLSTLDDRTVLVGQRLPLMAEVSETALYCGIRPSNPESSEKWWHSYRLPPSDDAEFRPPELQGERCDAKMEVNSESTALQRLLAQPNKRFKIWQDKQPQLQPLHFLDPLPLSQQPGDSLGEVNDPYTFEDGDIKYIFTANKKCKQGTEKDSLKKNKSEDGFGTKDVTTPGHSTPVPDGKNAMSIFSSATKTDVRQDNAAGRAGSSSLTQVTDLAPSLHDLDNIFDNSDDDELGAVSPALRSSKMPAVGTEDRPLGKDGRAAVPYPPTVADLQRMFPTPPSLEQHPAFSPVMNYKDGISSETVTALGMMESPMVSMVSTQLTEFKMEVEDGLGSPKPEEIKDFSYVHKVPSFQPFVGSSMFAPLKMLPSHCLLPLKIPDACLFRPSWAIPPKIEQLPMPPAATFIRDGYNNVPSVGSLADPDYLNTPQMNTPVTLNSAAPASNSGAGVLPSPATPRFSVPTPRTPRTPRTPRGGGTASGQGSVKYDSTDQGSPASTPSTTRPLNSVEPATMQPIPEAHSLYVTLILSDSVMNIFKDRNFDSCCICACNMNIKGADVGLYIPDSSNEDQYRCTCGFSAIMNRKLGYNSGLFLEDELDIFGKNSDIGQAAERRLMMCQSTFLPQVEGTKKPQEPPISLLLLLQNQHTQPFASLNFLDYISSNNRQTLPCVSWSYDRVQADNNDYWTECFNALEQGRQYVDNPTGGKVDEALVRSATVHSWPHSNVLDISMLSSQDVVRMLLSLQPFLQDAIQKKRTGRTWENIQHVQGPLTWQQFHKMAGRGTYGSEESPEPLPIPTLLVGYDKDFLTISPFSLPFWERLLLDPYGGHRDVAYIVVCPENEALLEGAKTFFRDLSAVYEMCRLGQHKPICKVLRDGIMRVGKTVAQKLTDELVSEWFNQPWSGEENDNHSRLKLYAQVCRHHLAPYLATLQLDSSLLIPPKYQTPPAAAQGQATPGNAGPLAPNGSAAPPAGSAFNPTSNSSSTNPAASSSASGSSVPPVSSSASAPGISQISTTSSSGFSGSVGGQNPSTGGISADRTQGNIGCGGDTDPGQSSSQPSQDGQESVTERERIGIPTEPDSADSHAHPPAVVIYMVDPFTYAAEEDSTSGNFWLLSLMRCYTEMLDNLPEHMRNSFILQIVPCQYMLQTMKDEQVFYIQYLKSMAFSVYCQCRRPLPTQIHIKSLTGFGPAASIEMTLKNPE|artqedgclqarkrfctrnwinwhldlglpslqnyemrnkcllfkppslwyfviatqddkdnkpkmkngkvtkmsfkravccpkslfp* 604 ENSG00000130309.11 ENSG00000280441.3 +/+ +/+ chr19:17572602 chr21:8450147 CDS/splice-site exon/splice-site translocation 1 11 0 98 210 high out-of-frame . Glycosyl_transferase_family_2(100%)| . . ENSG00000130309.11 ENSG00000280441.3 ENST00000252599.9 ENST00000651813.1 downstream upstream duplicates(1) ^(GACCCCTTTAAGGCGCGGCCAGAGTCCTCCCGCAGAAAAACGACTTAAAGGAGACGCGTGGCGCGATGGCGGCGGCCCCACGCGCGGGCCGGCGGCGCGGGCAGCCGCTCCTGGCGCTGCTGCTTCTGCTGCTGGCGCCACTGCCGCCGGGGGCCCCGCCGGGCGCCGACGCCTACTTCCCCGAGGAGCGCTGGAGCCCGGAGTCGCCCCTGCAGGCGCCGCGCGTGCTCATCGCGCTGTTGGCGCGAAACGCGGCCCACGCGTTGCCCACCACGCTGGGCGCACTCGAGCGGCTGCGGCACCCGCGGGAGCGCACGGCGCTATG___GGTGGCTACGGACCACAACATGGATAACACGTCAACTGTGCTGCGGGAGTGGCTGGTGGCCGTGAAGAGTTTGTACCATTCCGTGGAGTGGCGGCCAGCAGAGGAGCCCAG___GTCCTACCCGGACGAGGAAGGCCCGAAACACTGGTCTGACTCACGCTACGAGCATGTCATGAAGTTGCGCCAGGCAGCCCTGAAATCAGCTCGAGACATGTGGGCTGATTACATCCTG___TTTGTAGATGCGGACAACCTGATCCTCAACCCTGACACACTGAGCCTGCTCATCGCTGAGAACAAGACGGTGGTCGCCCCCATGCTGGATTCCCGGGCTGCGTACTCCAACTTCTGGTGTGGAATGACTTCCCAG___GGCTACTACAAGCGCACACCTGCCTACATCCCTATCCGCAAGCGAGACCGCCGGGGCTGCTTTGCAGTTCCCATGGTGCACTCGACCTTCCTGATCGACCTGCGGAAGGCGGCGTCCAGGAACCTGGCCTTCTACCCA)CCTCACCCTGACTACACCTGGTCCTTTGACGACATCATCGTCTTTGCCTTCTCCTGCAAGCAGGCAG___AGGTTCAGATGTATGTGTGCAACAAGGAGGAGTACGGATTCTTGCCAGTGCCATTGCGCGCCCACAGCACCCTCCAGGATGAGGCCGAGAGCTTCATGCATGTGCAGCTGGAGGTCATGG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCCG(GCTAATTTTTCTATTTTTACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ MAAAPRAGRRRGQPLLALLLLLLAPLPPGAPPGADAYFPEERWSPESPLQAPRVLIALLARNAAHALPTTLGALERLRHPRERTALWVATDHNMDNTSTVLREWLVAVKSLYHSVEWRPAEEPRSYPDEEGPKHWSDSRYEHVMKLRQAALKSARDMWADYILFVDADNLILNPDTLSLLIAENKTVVAPMLDSRAAYSNFWCGMTSQGYYKRTPAYIPIRKRDRRGCFAVPMVHSTFLIDLRKAASRNLAFYPPHPDYTWSFDDIIVFAFSCKQAEVQMYVCNKEEYGFLPVPLRAHSTLQDEAESFMHVQLEVM|gvisrvevisnf* 604 ENSG00000121766.15 ENSG00000264515.6 +/+ -/- chr1:31319166 chr19:29428810 CDS/splice-site exon/splice-site translocation 4 0 1 198 2 high out-of-frame . S1_RNA_binding_domain(100%)| . . ENSG00000121766.15 ENSG00000264515.6 ENST00000618216.4 ENST00000582581.5 downstream downstream . ^(AGGCGCGCTGGGTCTTGTGGGTGGAAACGCGCTGGCTGACTGGGGTCGGCGTTTAGTTCAGCGCAGCGACTCGGGGACCTGG)AGCTGACGCCTA___GACACTTGTATTAGCTTTAATAGAAGAGAAATGGAGGAGCCATAGAATATTAAGGATGAATTCAGGAAGGCCTGAGACCATGGAAAACTTGCCTGCTCTCTACACTATTTTCCAAGGAGAG___GTTGCTATGGTGACAGACTATGGGGCCTTTATCAAAATCCCAGGCTGTCGGAAGCAAG|GAAAGTGACCACTGTTCCTGGAGGATTTGCATTGCTGGAGAAGTGCATTCTAACAGTGGAATTCAGGCGGCGAGAGTCGG___TCAATTCACCGTACCATGTGGACTCCCCAGTGTGGAGCAGAATCTGAG(GACTGACTTGCTAAGAATCTCTGGGCACCCTGGATAGAACCTTCCCTTTGGCTCTGAGCATGGTGGCTCACACCTGAGATCCCAGCACTTCGGAAGGCCGAGGTGGGAGAATTGCTTGAGGCCAGGAGTTCGAGACCAGCCTAG___TTCCTGGATGCAAACCTTGAGAAATCAACTTGGAGAACGAGCTAAGTTTCCGTTGTCCAGAGCTCAGGTGCTGGGACAGGTGGCACCCAG___ATCTTCCAGCCATATGTGGAGTCGCTGGTGGAGTCTTATCTCTCTCTCCAGAGTGTGTCCCTGCAGTGGAGGCTGGCCTTTCATCTCAGCACCAGGGTGCCCAGGGCCCAGTTGATCCAGGAAGTTTGTTGAATGAATGAGTGATTGGCACATTCTGGGCAG___GAGACTGTCTGGCCCAGAAGAATGCCTGGTTTCCCTCAGGGCAGGGCACTCCCCTGTGCAGACAGGCGGGCATGGAGCAGAAACAGCCAGGGTGGACGAGCTTTTCAGCAGCATGAAGGCAACAGCCGATTTGTTCACAGTCGAGAGTGAAGGAATGAATTTACGAGAACCTGCATGAACTATGTGATCATAGTGTTGGTGGTCAGACTGTGAGGCACAGGAAGATGGATCAGAGGGTCAAAGGGGCACCATCTACAGCTCATTTCCCCGTCCTCCAACCAATGGGCCTGCCCCAGACCTGCTCCCCTGTCCCTGGGGAGGAGGAGGATATTCCAGACTCACGGACCTGAACCTCTCTGGGCATATGTCCAGTCTCTGTCCTGCAGAGATGCCTTGGGCCTCCCATTTCAACAGCATCCTTCCCCTGATGTGGGAAAGAATTTCCTAATCGCCCTCACCTCTGGCTTCAGGTCCATGCAACACAAGCCCTGTTTCGGGCCTCCTGTGTTCAGGCTCCTGAGCACGGCTTCCCTTTTTGAAACCAG___GGAGGCTGGTGTTGCCTGCAGAAGCATCTTGTGAGTTGTGGGAGGGGCCACATGGAAGGCCAGACATGGGAGTGAAGTGTGAAGCACCAGCCTTCCTGACTTCCAGACCCAGGTCAGCCTCCCGCCTCTCCTCCTGCTGAATCTTTCTGATCCTGCGGTTTCTCCTCTCTGAAACGGGGATGCTGATGGTTCCATAATCAAAGTCCTGTGCTGATTCATTGCAATGATGACTGTTTAGCCCCAGCTGCAG___GAAAAAAAACCGAACAGAACAAAACTAGACCGGGTATGGTAGCTCACGCCTGTTAAGTCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTTGGGACCAGCCCGGGCAACATAGCAAGACCCCTATCTCTACAAACAACAACAATAGCAGCAGCAAAATCCCACTAAAATAATAAAAT___GCTCACTGTAAGCAGAGAGTACTTCTCTGCCCTACTGACTTGCTCCTCCTACTGAGCAGGCCACGTGACTTGCTCCAACGAATGGAATGTGTGCAGATATGTATGTCACATCCAGCCAGAGGCTTTCAATATGATTGAACCTGGACTCTTGCCCTCTTGCCTTGCACTTGGAGAAGAATGTGCTCCAG___GATGCTTCAGTAGAAAGTGGAAATGCTGTCTCCCGAATTTGCTGAACGATGATGTTCTGAGGAGACCTGCACTTGAGAACAAAAGTGACTACTCTTTTGTCCTAATCTTAAATCCCATCACCTTGGCTGCAACTGCTGAGTGCTGGTAATGAGTGTTGAGAGGCAATCCGAGGATGGTGATTAGGTATTAAGCCTGGGCAGGTATTAACCGAGAGGTGTGTGGACCTTTCGCTCAGCACCACAAGAGCAGATCTCTGCCAGCAAGCTTATCTGGCCATCAGCCAGGGACAGAGCTGCACTGTGGCAAAGTGAAATGTGATTTTAATGATTCTGAGCACATGGTTTCTGCCTCCAGCATGCTAGATTTGTAGACTGGCATTTTTTTTCCCTTGGGTAGATTCCAGATGTTGTATAACTTGTGCCTTTCTAAGTTACAGCATGGTAGATGGGGACTTGTCTTTGTTATGAGCATGTACAATGTGGGTCGCAGTTAAGCACTGTCAAATAGCCTCCTAAAAGATGAGTTTGTGTGGAATAAAGCACTGAAAAAGG)$ MNSGRPETMENLPALYTIFQGEVAMVTDYGAFIKIPGCRKQ|gk* 604 ENSG00000112699.11 ENSG00000137273.6(57962),ENSG00000243439.3(53757) -/- ./- chr6:1930103 chr6:1453565 CDS/splice-site intergenic deletion 2 1 0 313 10 high out-of-frame . GDP-mannose_4_6_dehydratase(100%)| . . ENSG00000112699.11 . ENST00000380815.5 . upstream downstream duplicates(2),mismatches(1) ^(CTCCCTGCACGGCCTCCCGTGCGCCCCTGTCAGACTGTGGCGGCCGGTCGCGCGGTGCGCTCTCCCTCCCTGCCCGCAGCCTGGAGAGGCGCTTCGTGCTGCACACCCCCGCGTTCCTGCCGGCACCGCGCCTGCCCTCTGCCGCGCTCCGCCCTGCCGCCGACCGCACGCCCGCCGCGGGACATGGCACACGCACCGGCACGCTGCCCCAGCGCCCGGGGCTCCGGGGACGGCGAGATGGGCAAGCCCAGGAACGTGGCGCTCATCACCGGTATCACAGGCCAG___GATGGTTCCTACCTGGCTGAGTTCCTGCTGGAGAAAGGCTATGAG___GTCCATGGAATTGTACGGCGGTCCAGTTCATTTAATACGGGTCGAATTGAGCATCTGTATAAGAATCCCCAGGCTCACATTGAAGGAA___ACATGAAGTTGCACTATGGCGATCTCACTGACAGTACCTGCCTTGTGAAGATCATTAATGAAGTAAAGCCCACAGAGATCTACAACCTTGGAGCCCAGAGCCACGTCAAA___ATTTCCTTTGACCTCGCTGAGTACACTGCGGACGTTGACGGAGTTGGCACTCTACGACTTCTAGATGCAGTTAAGACTTGTGGCCTTATCAACTCTGTGAAGTTCTACCAAGCCTCAACAAGTGAACTTTATGGGAAAGTGCAGGAAATACCCCAGAAGGAGACCA)CCCCTTTCTATCCCCGGTCACCCTATG___GGGCcGCAAAACTCTATGCCTcTTGGcTTGTGGTGcACTTCCGTGcGGCGTATAATCTCTTTGCAGTGcACGGCATTCTCTTCAcTCATGAccGcCCCAGAAGAG___GAGCTAATTTCGTTACTCGAAAAATTAGCCGGTCAGTAGCTAAGATTTACCTTGGACAACTGGAATGTTTCAGTTTGGGAAATCTGGATGCCAAACGAGATTGGGGCCATGCCAAGGACTATGTGGAG|GTCCTGGGTTCCCTTGACTGTGGCTTCCAGAAGAGAAGAGCTTTGGAGTCCTGCTGAGAGTGCCAAAACTGTGGGGGCCAAGAGATAACTCTCCCTTCACCCTCTGAAGTTTCACTGAAACATCAACCGAC MAHAPARCPSARGSGDGEMGKPRNVALITGITGQDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTEIYNLGAQSHVKISFDLAEYTADVDGVGTLRLLDAVKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAsWlVVhFRaAYNLFAVhGILFtHdrPRRGANFVTRKISRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVE|vlgsldcgfqkrralesc* 604 ENSG00000010017.13 ENSG00000137221.14 -/- +/+ chr6:13696785 chr6:43497881 CDS/splice-site 5'UTR/splice-site inversion 1 1 0 9 29 high out-of-frame . SPRY_domain(100%)|Protein_incorporated_later_into_Tight_Junctions(100%) . . ENSG00000010017.13 ENSG00000137221.14 ENST00000011619.6 ENST00000372444.6 upstream upstream . ^(AAACAGCCGCGAGAGCAGCGGCCGCGGCGGCCGCCAGCGCGCCTTCCCCTCCCGCGCTCCCGCGTCGCCCCCGCCCTCGGCGCCTCGTCCCCGGGCCGCGCGCCCGCGCTCCGGCCAACGTTCTCTCCCGGCCTCCCGGGCCCGCCGCCTACTCCCGCGTCTCCGAGCTCCTCAACCGCCGCGGTCTCCCTGGGCGCGCGGCCCGCCGCCTGCTTCCGGGGCGGGCGGACTGGGCGCCTGGTGCCGGCGGCCGCAGCGACAGCGCCCCCGGGAAGCAGAGGAGGAAGGAGAGAAGAGGTGGAGGTGGCCGCAGGCTGAGTCGCGGCCGGGATGTCCGGGCAGCCGCCGCCGCCGCCGCCGCAGCAGCAGCAACAGCAGCAGCAGCTGTCGCCGCCACCGCCGGCGGCCTTGGCCCCAGTCTCCGGAGTCGTCCTGCCGGCGCCCCCGGCCGTCAGCGCCGGCTCTTCTCCGGCCGGCTCGCCCGGCGGCGGTGCGGGCGGCGAAGGCTTAGGGGCCGCGGCGGCCGCCCTGCTCCTCCACCCTCCGCCGCCGCCGCCCCCGGCCACCGCGGCCCCGCCGCCCCCGCCGCCGCCCCCGCCTCCCCCTGCCTCAGCGGCTGCCCCCGCCAGCGGGCCGCCCGCTCCCCCGGGCCTTGCAGCGGGCCCCGGCCCGGCTGGAGGAGCCCCGACCCCAGCTCTGGTGGCGGGCAGCAGCGCCGCGGCCCCCTTCCCTCACGGGGACTCGGCCCTGAACGAGCAGGAGAAGGAGTTGCAGCGGCGGCTGAAGCGTCTCTACCCGGCCGTGGACGAACAAGAGACGCCGCTGCCTCGGTCCTGGAGCCCGAAGGACAAGTTCAGCTACATCGGCCTCTCTCAGAACAACCTGCGGGTGCACTACAAAG___GTCATGGCA)AAACCCCAAAAGATGCCGCGTCAGTTCGAGCCACGCATCCAATACCAGCAGCCTGTGGGATTTATTATTTTGAAGTAAAAATTGTCAGTAAGGGAAGAGATGG|GAGCTGTGGCTAAAGGAAGTGGAGGGGCCGTGGGATGCGGAGAGCCGAGGGCTAACTCCCGGACAGCGGAACAGAGAGAGCTGCCGACAAACAGACG___GCGGAGGAGCCGTCACCTCCCAGAATGACTAGTGCCGCCCC(TGCTAAGAAACCCTACCGTAAGGCACCACCAGAGCATCGGGAGCTGCGTTTGGAAATTCCTGGATCCCGGCTTGAGCAGGAG___GAACCCCTGACTGATGCAGAAAGGATGAA___GCTCTTACAGGAGGAGAATGAAGAGCTTCGCCGGCGCCTGGCCTCCGCCACCAGACGCACTGAGGCCCTGGAACGTGAGCTGGAAATTGGGCAGGACTGCCTGGAGCTGGAGCTGGGCCAGAGCCGCGAGGAGCTGGACAAATTTAAGGATAAGTTCCGCAG___GCTGCAGAACAGCTACACGGCTTCCCAGCGGACCAACCAGGAGTTGGAGGACAAGCTGCACACACTG___ATCAAGAAGGCTGAGATGGATAGGAAGACGCTGGACTGGGAGATTGTGGAGCTGACCAACAAGCTGCTGGATGCCAAGAACACCATCAACAAGCTGGAAGAGCTCAAT___GAGCGGTACCGGCTGGACTGCAACCTGGCTGTACAGCTCCTCAAGTGCAACAAGTCCCACTTCCGAAACCACAAGTTTGCCGAT___CTGCCCTGTGAGCTACAGGACATGGTTCGGAAACATTTGCACAGTGGTCAAGAGGCCGCCAGCCCAGGTCCTGCTCCCAGCCTAGCCCCAGGGGCTGTGGTGCCTACCTCAGTCATTGCCCGAGTGTTAGAGAAGCCGGAGTCTCTACTGCTCAATTCAGCCCAGTCAGGCAGCGCCGGGCGCCCCTTGGCTGAGGATGTCTTTGTGCATGTGGACATGAGTGAGGGTGTCCCAGGTGATCCAGCCAGTCCCCCGGCCCCTGGCAGCCCCACCCCACAACCCAATGGGGAGTGCCACTCTCTGGGTACTGCCAGGGGCTCCCCGGAGGAAGAGCTGCCCCTGCCAGCCTTTGAGAAGCTGAACCCCTACCCAACCCCGTCTCCACCACACCCACTGTATCCTGGCCGCAGGGTAATAGAGTTCTCTGAGGATAAGGTTCGGATCCCCCGCAACAGCCCCCTGCCCAACTGCACTTACGCTACCCGCCAGGCCATTTCCCTGAGCCTGGTAGAGGAGGGGAGTGAGCGGGCCCGCCCCAGCCCAGTGCCCAGCACCCCTGCCTCAGCCCAGGCCTCACCCCACCACCAGCCCAGCCCAGCACCCCTAACACTCAGTGCCCCAGCTAGCTCTGCCAGCTCTGAAGAGGACCTGCTGGTCAGCTGGCAGCGGGCATTTGTGGACCGTACTCCACCACCTGCTGCTGTGGCCCAGCGCACAGCCTTTGGACGCGATGCCCTCCCTGAGCTGCAGCGCCATTTTGCCCATAGCCCCGCTGACAGAGATGAGGTGGTCCAGGCACCTTCTGCCCGACCCGAAGAGAGTGAGCTTTTGCTACCCACAGAACCTGACTCTGGCTTTCCCAGGGAGGAAGAAGAGCTGAACCTGCCTATCAGTCCTGAGGAAGAGCGCCAGAGCCTGCTGCCCATTAACAGGGGCACAGAGGAGGGGCCAGGCACTTCCCACACCGAGGGCAGGGCCTGGCCACTCCCCAGCTCCAGTCGCCCCCAGCGCAGCCCCAAGAGGATGGGGGTTCACCACCTGCACCGCAAGGACAGCCTGACCCAGGCCCAGGAGCAGGGCAACCTGCTCAACTAGGGCCCCTGCTGGCCTTCCTGCCATTGCTGCACCAGGACTGCAAGGAGTCCCCACACCTTGGCAGCTCAGGGTCCCCAGTCCAAGCCCTTGACCTCTCCTCTATCCAGACCCGCACAGCTGTTTCCTGTGTGGATGGGGTCAGGTTGTGGGCCATGCCAGGCCTGTCAGCTGCGTTGACTGACTGCAGCAGCTTGCCTCATGGTTTTCCCTTTTTCTTAGAATATTTATTCTTCAGAGGTAACATGCAGTTGGGTCTCAAGACCTTTCCTCCAATCAGCCCAACCCAGCCCAGACTGGGCTTTTCTGGGGAGCTGAGGAGTTTATCAGTATTCATCTTCCATCCTTTCATAGTCACAAGTTTTGTTATTTTGTTTTTTTTTGGGGGTGATGGTGTAATTGTTAACCTCATTTCCGTTTCCTACCTGTTTGCTTCCCCCCCCAGTCCTCCGCATGAGCTGTTGCCCTCCAGGGGCCTGGCACAGCTGGCCTTGGGGACGAGGGAGAGGACTGATTCAGGGCCCCCTCAGCTGTCTCCTCCCTCCCTCTGGAAAGGAGGGTGGGGCTCAGGGGCCTCAAGCTGGGCTCTGTGTGAGGCCTGGCCCCCACTCCCAACCTTGGCTCTAGACTGTTACTCTTAAGCTTTGAGAAATTTTCACATTGATGACTATTTTAAAATCAAATAAAACTATTTTACTGGTATG)$ MSGQPPPPPPQQQQQQQQLSPPPPAALAPVSGVVLPAPPAVSAGSSPAGSPGGGAGGEGLGAAAAALLLHPPPPPPPATAAPPPPPPPPPPPASAAAPASGPPAPPGLAAGPGPAGGAPTPALVAGSSAAAPFPHGDSALNEQEKELQRRLKRLYPAVDEQETPLPRSWSPKDKFSYIGLSQNNLRVHYKGHGKTPKDAASVRATHPIPAACGIYYFEVKIVSKGRDg|scg* 604 ENSG00000121390.19 ENSG00000226352.2 -/- +/- chr13:19741565 chr13:19677823 CDS/splice-site intron deletion/read-through/5'-5' 0 36 3 1210 1094 medium out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 ENSG00000226352.2 ENST00000338910.9 . upstream downstream duplicates(8) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAG)CAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA...GTCAAAACATTTTGTGGGAAATATCCTGTTCGTGACCTAGGAGAAACAAGACAGAAAACAAATCTTTCTTCATTTATGAATTTCTTACTCCATACAAGCAGTTTATGGATGTCTGGGCAATCATAGCACTTGCCATTTAAAAACATGCTACAGGGGCACATTTTCTGTGGTTAAAAATGATCTCCAGAATAAGTGTAAACTGCAGTTTTCCTTTGCATTGAGGG...CAGTCTTGCCACTTGCCTAGTGAGGCTTTTCCGAACCTGGAAGGAGACGTCTAGAAATCCCAACTTTGCTGTGTAAGGACCATTAGCTGCAAGTCAGTGGAAGTCTATAGAAAGCAGTGTGAATTCCATAGTGGTCTTGACTTCTTAGCAAGGATTTGGGAT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLr|vikenvaevtrssacsviqks* 604 ENSG00000213221.5 ENSG00000213221.5 -/- -/- chr9:136363676 chr9:136363708 CDS CDS duplication 3 16 0 61 61 medium in-frame . . . . ENSG00000213221.5 ENSG00000213221.5 ENST00000371738.4 ENST00000371738.4 upstream downstream duplicates(2) ^GGGGCAGGGCGGACGGAGCCGGCGAGCGGGATGCTGCGGgCTGCGCTGCGCGGCGCGCCGAGGTTGCTG|CGGACTGCGCTGCGCGGCGCGCCGAGGTTGCTGAGTCGCGTGCAGCCCCGGGCGCCCTGCCTGAGGCGGCTGTGGGGCCGCGGGGCCCGTCCAGAGGTCGCGGGGAGGCGGCGGGCCTGGGCCTGGGGCTGGCGGCGCTCAAGCTCCGAGCAGGGGCCGGGGCCCGCGGCGGCTCTGGGGCGCGTGGAGGCGGCGCACTAC(CAGCTCGTCTACACCTGCAAG___GTCTGCGGGACTAGGTCCTCCAAGCGCATCTCCAAGCTGGCCTATCACCAAGGCGTGGTCATTGTGACCTGCCCCGGCTGCCAGAACCACCATATCATCGCTGACAACCTGGGCTGGTTCTCGGACCTGAATGGGAAGAG___AAATATCGAAGAGATCCTGACGGCCAGAGGCGAGCAGGTGCACCGTGTGGCGGGCGAGGGGGCCCTGGAACTGGTTCTGGAGGCTGCAGGGGCCCCCACATCCACTGCAGCTCCGGAAGCGGGTGAGGATGAGGGTCCCCCCAGCCCTGGCAAGACGGAGCCGAGCTGACTCCTGCGCTCCCCGGCACTGTGGGACTTCGGCCTTCCAGAAGGAGGTTTTGGCCCTGGGCCTCTCTGGACGTGGCCTGTTTTCTATCAATAAACAGACATTACTTCCAGATGCTGGGGCCTGTGGCCCTCGTGGCCTTTCTTTTTCTGGAGTTAGAACGATTGCTCTGAATCCCTGGTGCTGCTGGGTGGGACATAGGAGCCGCAGGACCTCTCGCCTCACCACAGTTCCTTCTACACAGAGTCACCCAGCTCTTGCCCACAGAGGCCACAGTCGCGTGGAAAGGGGGCTGGATGTGGCGTCAGAGCCCTTCCTGGCTGTCGCTGCGTGACTTTGAGCAGGTCACCACCCCTGTGAGCCTCAGCCTTCCTCTGCAAGGCCCTTGCCGCCCCCCTGGCCAGCTCTGGCGGCCTCCCTTCCGTGAGCCAGTGCAGACCTGAGCCCTGGTCCTCGGCCGCCGGCCGTCGGCGAAACAGTGAGCAAACCAGGCTGCCTGCTGGCCCAGGCAGGACGAGCAGCTATGGCGTGGCCGTGTGTTAGGAGCTCCAGACCCCTCCCGGGGGAGCCACCTGGGCCTCCTTCCCTCGGTGGACAGCGCTCTGGACGTCCCCAGGGCCCTCCGAGGTGTGTGGGGTTTGTCTCCCAGCCTTGTCTGTGCGCAGGATGTTCCCGTGTTTATGAAAGCGAGCAAACACAGCAGCCTGTTTATTTGCAGAAGCGTTCTGGGCAGCGTAACCTTCAGCATTCATCACCCGCCACACTCCGGCAGGGAAGAGAATGGGGCGAGGTGGGAGGTGGAGGCAGGACTGAGCACGACAGGGACCCAGTGCGGCCCCTCCCAGCGGGACACGGCCAGGACTGCCAGCTCACATCCGGCCCGTGGGAGGCCGGGGCGCGGCGGCATCGTTCCCAGTGTGCTTGTGGCGTGGGCTTTGCCTCGATTACCCCCTGTCCTTCTTTCAGCCAACAACCCTCTATTATTCCCACCCAGAGCCTTCTGTGCCATTTGTGGAAACTGTCCTCTTCTCGGCTGAGCCACCGGCACCCAGGCCTGCTCCTCCATGGAGGCACTGGCTGGGGGTCTCTTGGGGGCTTGGAAGTGCAGTGGGGCTGGGCTTGGCTTGGCTGCCTCACTGCCTCCAGAGGGCCTGGACCAGCATGTGGGGAGGTCCAGGGAGCCGTCTGGACCTGGAAGTGCAGAATTAGAGCAAGGAGAGCCGCTTGGGCCAACCCCTCCTCTTACGGATGGGGAGATGGCGGCTGGTAGTTGGGATGTGGACGTTACCATGTCTTTTCTGTCTGATGCCAGCACCTCTGGGCCCAGGCTGGCCCTGGAGGGAAATCCTTCCCAAGGCTGGCACGTTCCTAGAGAAGACCTATGGCTACCCCCCGCGTGCCAGAAGCATCCCGCCAGCTCCTGCCTGAGGCCCCCTGGACCCTGTCTCCCTCCGCCCTTCCCTCCCCGCAGCCCCAATCCCACAGCCAGGTTTCTGCAAGGGGCTTTGCCATCCTAATCTCCTGCCACTCTACACCCCCCCGCCCCAGGACATCCCTGCCTCCCGGGCACGGTTGCTGGCCTGGGCATCCCTCGTCACAGCGTCTCTCCAAGCAGGTTCCTCGGCCGCACCTTCAGAGGCTGTCCCAGCCAGTAGCGTGGGCGGCACTGCTGCGCTTCCCTGGCTGTGCGCGGTCCTGGGCCCTGCACGGTTACTTGGACCCTGTGTGCGTGTACCACCACACGCAAGCTGGCTGGGACCCTGGACCTGGAGTACACGTTGATTCTGGTTCCCAAGGCCCCTTCTGGGGTGGAGGAGGCAACGGAGTCAACCAGCACAGAGGCTGTGGCTGCCAACATGGCCAGGTGGGCTGTGGCGAGGGGCAGCAGGACTGCCCGGCGCACCTGTGTGTCCCCTGACGGGGGCCCCGTGGGGGTGCCACCCACCACAAGCAGCGCCCAGACAAGCCCCAAGACTGCAGATCTGCCGTCGGCTCCTCCACTGTGGCTCAGTGTCCAGACCCTGAGCCCAGCCGGATCAGACTCCAGGAAAGGACCTCCCTCCCCCGGGTGCTGGGTGGGCGGCAGCAGGCTGGGTCCTCAGGGGGTCGTGGGGCTGACCTGGGGGCTGCTGCTTCTGGGGGCTGGTCCCGGCCACGTGAGTGTCAGCTCAGAGCATGCTCTGTTTCCCTAGGGGCTGGGAGCGTGAGGAGGTAGGGGTGCAGGAATCAGTGGTGACAGCAGGCAGCCACTTCACCCCTCTGTGCCCCAGCTCCCCCGTGGTTAAATGCAGTGGGAACTCCATCTCTCTGAGGTCTCAGAGGGCCCAGACAGTGGGTATCTGTGGACACTTTGCACAGTGCAGCCTCTTACCGGGTTAGGCCCCCACCCGGGACTAAGCCCATACGGACCACACTCACTTGGCCGACTTTATTTTTCAGGAAAAACAGAAAAACAAATGTACCTCTTGGGTTGGAAAGGACCCATTGACAACATGGCACAGACGTGAGCAATAAATACGCACATACATTCAA)$ MLRaALRGAPRLL|RTALRGAPRLLSRVQPRAPCLRRLWGRGARPEVAGRRRAWAWGWRRSSSEQGPGPAAALGRVEAAHYQLVYTCKVCGTRSSKRISKLAYHQGVVIVTCPGCQNHHIIADNLGWFSDLNGKRNIEEILTARGEQVHRVAGEGALELVLEAAGAPTSTAAPEAGEDEGPPSPGKTEPS* 604 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 16 2 0 509 30 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream duplicates(4) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGAAGCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCA)CGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTACCTCAAGTTTCTTCATCTGTGAAATGGAGATAATCGAATTTAGTATTTTGAAAAGATTGAGTTAATACATGTTAAAC MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 604 ENSG00000139083.11(23349),ENSG00000121380.12(131118) ENSG00000139083.11 ./- +/- chr12:11918726 chr12:11891597 intergenic 3'UTR deletion/read-through 10 7 0 52 152 medium . . . . . . ENSG00000139083.11 . . upstream downstream duplicates(7),mismatches(1) CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGTCCAGCTTGTCTTTAACTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCAGCTGAGAGCTTTTTATTAGCGATTGGTGTGAAGGATCAAAGCCCTCTCATGAGTATTGCAACATGAAGATGTTACTGAAATGAACGTCCTAGGGGCTGCATTTAG|CCAAGACCCAACAGTAACAGGAACAGACCTGATCCACGTGGCAGGAAAAAGAGGAACCTGAACCCCTCTGCAAGTATTCTCTTTCCTGACCAGCTGGGCTTGCCGCACTTTGTGAGATTTGCAAAAAATATATATATAATAGATATATATTTCCATAG . 604 ENSG00000114416.18 ENSG00000242808.9 +/+ +/+ chr3:180968254 chr3:181330834 CDS/splice-site exon/splice-site deletion/read-through 4 10 0 387 31 medium out-of-frame . Agenet_domain(100%),Fragile_X-related_1_protein_C-terminal_region_2_(100%),Fragile_X-related_1_protein_core_C_terminal(100%),KH_domain(100%)| . . ENSG00000114416.18 ENSG00000242808.9 ENST00000357559.9 ENST00000643131.2 downstream upstream duplicates(3),mismappers(1),mismatches(1) ^(CCTTTGCGGTTCCAACATGGCGGAGCTGACGGTGGAGGTTCGCGGCTCTAACGGGGCTTTCTACAAG___GGATTTATCAAAGATGTTCATGAAGACTCCCTTACAGTTGTTTTTGAAAATAA___TTGGCAACCAGAACGCCAGGTTCCATTTAATGAAGTTAGATTACCACCACCACCTGATATAAAAAAAGAAATTAGTGAAGGAGATGAAGTAGAG___GTATATTCAAGAGCAAATGACCAAGAGCCATGTGGGTGGTGGTTGGCTAAAGTTCGGATGATGAAAGGAGAA___TTTTATGTCATTGAATATGCTGCTTGTGACGCTACTTACAATGAAATAGTCACATTTGAACGACTTCGGCCTGTCAATCAAAATAAAACTGTCAAAAAAAATACCTTCTTTAAATGCACAGTGGATGTTCCTGAGGATTTGAGAGAGGC___GTGTGCTAATGAAAATGCACATAAAGATTTTAAGAAAGCAGTAGGAGCATGCAGAATTTTTTACCATCCAGAAACAACACAGCTAATGATACTG___TCTGCCAGTGAAGCAACTGTGAAGAGAGTAAACATCTTAAGTGACATGCATTTGCGAAGTATTCGTACGAAGTTGATGCTTATGTCCAGAAATGAAGAGGCCACTAAGCATTTAGAA___TGCACAAAACAACTTGCAGCAGCTTTTCATGAGGAATTTGTTGTGAGAGAAGATTTAATGGGCCTGGCAATAGGAACACATGGTAGTAACATCCAGCAAGCTAGGAAGGTTCCTGGAGTTACCGCCATTGAGCTAGATGAAGATACTGGAACATTCAGAATCTACGGAGAG___AGTGCTGATGCTGTAAAAAAGGCTAGAGGTTTCTTGGAATTTGTGGAGGATTTTATTCAGGTTCCTAGGAATCTCGTTG___GAAAAGTAATTGGAAAAAATGGCAAAGTTATTCAAGAAATAGTGGACAAATCTGGTGTGGTTCGAGTGAGAATTGAAGGGGACAATGAAAATAAATTACCCAGAGAAGAC___GGTATGGTTCCATTTGTATTTGTTGGCACTAAAGAAAGCATTGGAAATGTGCAGGTTCTTCTAGAGTATCATATTGCCTATCTAAAG___GAAGTAGAACAGCTAAGAATGGAACGCCTACAGATTGATGAACAGCTGCGACAGATTG___GTTCTAGGTCTTATAGCGGAAGAGGCAGAGGTCGTCGGGGACCTAATTACACCTCCGGTTATG___GTACAAATT)CTGAGCTGTCTAACCCCTCTGAAACGGAATCTGAGCGTAAAGACGAGCTGAGTGATTGGTCATTGGCAGGAGAAGATGATCGAGACAGCCGACATCAGCGTGACAGCAGGAGACGCCCAGGAGGAAGAGGCAGAAGTGTTTCAGGGGGTCGAGGTCGTGGTGGACCACGTGGTGGCAAATCCTCCATCAGTTCTG|GTATTTGTGTCAGAGTAAGAAATCTCTTTCTAGATGTTTTTGCCATAAAGTCATATTTCTGTGTTTTGGACATCGCATTTTGTGGTCATAAAATGGAAGTGATTGTAAGGCCACGTATTCAGCACAATGACCTTGATCCTGAATGAAGTGGAGAGAGGAGAGAGAGAACAGCGTGACTAACAGCTCTTGTTGAAGCACAAGTAACTTTTTATGTTCCACTCCACAATGATGAAAAAGTAAACACAGA(GACAGGTTTTAGATGTTGATGGCTTTATATCAAAGTGAAATATATTTGTCATGTTCCAAAGTTACCTTCATTATCATTATTTTTAGAGGAATGGTTAAAAGCATAGGCTCTGGAATCAAACAGCTTGGGTTCAAATCTTGGATCTTTCACTTCTTAGCTGCATGACCTTCATTAAGTTCTCATCTGTAAAAATAGGGAAAATACGAGAAACTACTTCATGGGATTGTTACAAAGATAAAGTGCAATAATGCATGTGTCTGGCATAGAGTAAGCTCTTTCAGTGTCAGTTAGTATTAGCATAATTAAGTGCAGAATGTTTGTAAAATGTTATCTAAATTGTACTATACTCGACCTGGTTTAAAGTAAGTGAATGGATATCTGTGAAACTTTCTGACATGTGCTAAAATACATTGCAGCCTTCATTAAA)$ MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISS|gicvrvrnlfldvfaiksyfcvldiafcghkmevivrpriqhndldpe* 604 ENSG00000114416.18 ENSG00000242808.9 +/+ +/+ chr3:180968254 chr3:181563720 CDS/splice-site exon/splice-site deletion 1 1 0 387 4 medium out-of-frame . Agenet_domain(100%),Fragile_X-related_1_protein_C-terminal_region_2_(100%),Fragile_X-related_1_protein_core_C_terminal(100%),KH_domain(100%)| . . ENSG00000114416.18 ENSG00000242808.9 ENST00000357559.9 ENST00000665187.1 downstream upstream . ^(CCTTTGCGGTTCCAACATGGCGGAGCTGACGGTGGAGGTTCGCGGCTCTAACGGGGCTTTCTACAAG___GGATTTATCAAAGATGTTCATGAAGACTCCCTTACAGTTGTTTTTGAAAATAA___TTGGCAACCAGAACGCCAGGTTCCATTTAATGAAGTTAGATTACCACCACCACCTGATATAAAAAAAGAAATTAGTGAAGGAGATGAAGTAGAG___GTATATTCAAGAGCAAATGACCAAGAGCCATGTGGGTGGTGGTTGGCTAAAGTTCGGATGATGAAAGGAGAA___TTTTATGTCATTGAATATGCTGCTTGTGACGCTACTTACAATGAAATAGTCACATTTGAACGACTTCGGCCTGTCAATCAAAATAAAACTGTCAAAAAAAATACCTTCTTTAAATGCACAGTGGATGTTCCTGAGGATTTGAGAGAGGC___GTGTGCTAATGAAAATGCACATAAAGATTTTAAGAAAGCAGTAGGAGCATGCAGAATTTTTTACCATCCAGAAACAACACAGCTAATGATACTG___TCTGCCAGTGAAGCAACTGTGAAGAGAGTAAACATCTTAAGTGACATGCATTTGCGAAGTATTCGTACGAAGTTGATGCTTATGTCCAGAAATGAAGAGGCCACTAAGCATTTAGAA___TGCACAAAACAACTTGCAGCAGCTTTTCATGAGGAATTTGTTGTGAGAGAAGATTTAATGGGCCTGGCAATAGGAACACATGGTAGTAACATCCAGCAAGCTAGGAAGGTTCCTGGAGTTACCGCCATTGAGCTAGATGAAGATACTGGAACATTCAGAATCTACGGAGAG___AGTGCTGATGCTGTAAAAAAGGCTAGAGGTTTCTTGGAATTTGTGGAGGATTTTATTCAGGTTCCTAGGAATCTCGTTG___GAAAAGTAATTGGAAAAAATGGCAAAGTTATTCAAGAAATAGTGGACAAATCTGGTGTGGTTCGAGTGAGAATTGAAGGGGACAATGAAAATAAATTACCCAGAGAAGAC___GGTATGGTTCCATTTGTATTTGTTGGCACTAAAGAAAGCATTGGAAATGTGCAGGTTCTTCTAGAGTATCATATTGCCTATCTAAAG___GAAGTAGAACAGCTAAGAATGGAACGCCTACAGATTGATGAACAGCTGCGACAGATTG___GTTCTAGGTCTTATAGCGGAAGAGGCAGAGGTCGTCGGGGACCTAATTACACCTCCGGTTATG___GTACAAATTCTGAGCTGTCTAACCCCT)CTGAAACGGAATCTGAGCGTAAAGACGAGCTGAGTGATTGGTCATTGGCAGGAGAAGATGATCGAGACAGCCGACATCAGCGTGACAGCAGGAGACGCCCAGGAGGAAGAGGCAGAAGTGTTTCAGGGGGTCGAGGTCGTGGTGGACCACGTGGTGGCAAATCCTCCATCAGTTCTG|CCACTACTTCCTTCATTGGACTGCAAGGTATTTCTGTTTGGAAAAGTAATGGAGTCCAGTCAACTTCATTGATCGCCAAGGACTGTCAAAATTATAAAACTTGCTGTGGAGCTCTGACATGCCAGAAG(CCGCTAGAAAAAGAAGTTTGACATTCAGAAACTTATCAAGAGGTTCTACTCTTTGGATAGAGACCAAAATCATACTTTGAA___GGGATTGCAGTGGCAAAGCTAGGCTAGGTCTTGGAGGCTGGTGTAAGGCGATGTGGGTGAAGGCAGGAGGCTGATGGAAAGACTGGGGGGAAGAAAAGCCGAAATGGATTCACGGTGCCTTGGATGAAGGACGAGAGGGGAACTGCAAGCTCCTTCAACTGGTTCTGTCCGGTGAGAAGTGATCAAGCTTGGGCTGACAAGAGGCTCAGGGAGCCCTCACGTTCTTTCGCTTTTTTACCTGCCAATCAAACTGCTACAAGACAACACCCTGATCTGGCATGGACAT___CGCGGGTCCAAGCCTGTAGCCCCAAATCGGATAATCTCTGCAGCTGATAACAAGCAAAAGAGAAGCCAGGCAACAGCCATATTAAAGAAGAAAACAATCAACTCTGAG___ATCCAACTTAGAAATAATGTTTCATTCAAGATAAGGCTCGTGGCTTAGGAGATTGTGACCTGGCTTGCATCATTCTAAGACTTCTATCGTCTGTTTTCAAAACCCAAGGAGGACCTCCTTTTCTGTGTGATAGTTCCTCATGCTTTGCCAGCCACTGGGTCTTTAAGGAAGCTTGCCAAGAGTTCCCGGCTGGGAAGGACAGTTCGAGTTCATCATAGACAATGAGCTGGCACCACAGTTTAAGTGACTCACCAACCTGGTTGCCCACTTCAAAATGTCAAGAACCACACTATCTAATTGAAAGAACTGTGTTTTAGCAAAGTGTAATTGGATCGCCTGGCAAGATCATCTCAAACTATGTCTCTGACCTTGCCTTTCAGTGGCTATTTTGAGCACAAGAGGAGAAAGGAAATGATTCCTGAATTATATCTTGTTTTTAAAAATTAAGATTAATTAATACTTGGTTTTATGTTCATTCCATTGTAGGAACTTAGTGATTATTACAAAACAGTCAAAATAGGTCATAGCAAAATGAACGTTTAAGATTAGGTTAAAACATTCCTCTGAAATTTTAGTATTCACTTTTGAAGTGTCAATTACTATATTTCTGTAATTTCTCATTTTTTTCTTGGCTTAGAGTCAAGATGAAAAATGATATTTGAATCAAAGACATTGTTTTGTTATATAGCCACTCCTTTCTAAAATGCAAATCCACCCTCCCCTCACCAATGCTTTATTCTTTGTGCGCGCACACACACACACACACACACACACACACACACACACACACAGACATACACAGAACCAGCACCCAAATGGTAGAGGAGGTCCTTCCAAGACTTCTAGGACCTGGATCATGTAAGCAGTAGATGAGAAAATGAAGTAAGAGATATAGAGTAATAACAATAAAAGTCAATGATTTCATTTTACAAAAAAGTCATTGTGTAGTACTCAGATATTTTTAAGAGCAAGTATTATTATGACTAAAGTATATTATACTTCTAAATTATTATGATTCTCATCTAATTTCAAGCCACACATAGGCGCCATTTGAAAGCATTTTGTGTTACAACCTATCAACAAAAATCAACTAATAGTTTTATAACGTGCATAGGTTTACCCCATGGGGAATTAAAATTTTTATCTGCAAGTATTTCTGTTGTTGTGAGACTTTAGGACAAGACAACATTTGGTGTTAACATAGAAGAATATTCTATGGCTTTTTTAGCTTTAAAGTTCATTACTCTAAAATAAAGTACACGTGGTATTTTTTTCTTCCTAGTGTTCTCTTATTATATGTAGAGTATTTTCGGTTGTTGTTTTTAACGTATACATTATTTTTATTAAGTCATTTCATAAAAGATAAGATATATACTAATAGACCCTTGGTTTTCTCCTAATTTAATTATTTCAAGTCAAGCAAAATTGGGCAATTTTCTTTCAGGAAAAAAAAAATATTGAGCATGATTTTGAGGTAAAACTGATTATTTACAGCATCTTTTCTCTAATAGGCTAACATTTATGATGGATCTTATTTCAAAGTTGATTATTCTCAAAGAAAAGTGGAGATATTAGAATTTCCGAGTAAATTGCATTGTTTTAAAAAGTACTTTAATGCATTGTTCACATTGTTGCCAGCTATTGACCAAAAAAGAGAAGAAGAAAAAAGAAATAAAAAAAGCAGTATCTGCTCCAAACGTCAAGTTTTGCAGTTTGAAAGACTTGTACATTATAATTGTTTTTTTCTTTTTTGGAAAGCAGTAGTAATTAATACCAAAGGCATAGACAATTTAGGGCCATAACCTCCCTTCCCCCCTCTCCACCTTTTTTTTTTTTTTTTTTTTTTTTTAACTTTAACCATGATAGGCATCTCTGCAAGGTAGGTTTTAACATATTTTTTTCCTAATTTTTTTCCCTCCATTCAGTAAGAAGGATAAGCTTTTAGAGTACCCAGTCACCGTGGTAACTGCCAAAAAAATTCTCCTGAAGTTTGAAGAGGTCAGCTAGCAGGGTCAACAACCCTGGCCTCTCTCTGAGCTCGGTCTAGCATGCCCCAGCCTGCGGTTGGAGTGTCAGGCCAGATCTGACCCTGGGAGGTGGACCATTCTGGCTCTGATATAAATTTTTCGAGTCAGTTCATGGCCTGGACTCTCCAGGTGGCCTCCAAAATCGATTTTGACCCCCTGACCCTGTCTCACGGAGGCATAGCATCCACCCTAAGTAAGGATTTAGCCAGGAATGACAGCTTTCCACTGAGTGTTATTGGGGACAGTATAAACAGTTTGGAAAGCAAGTAAGGAGGTGTGAGGGCTAGCAATCATTAAAAGCACATTAAAAAACAATTTTTAAAAATCTTTATTAGAGAAAGTTGTAAATGCATATCTGTTACAGAATTCCTGTGATTTGTAGAGTTTTCTAGTCAGTTTTGAATATAAATAGGTCACATATCTTTATCTTTTTGCATACTTTGTTACAAATATGCAAATAAGATAGGCATACTTGCTACAAAATAGGTACAGCAGGAATGTAATATGTTCAGAAAAGGCAAACTGGTTATTAAAACACATTAACAGGTAAGGAGTTTCTAATATTTTAAATACTAAAATTTTACATGTGTATTTTGAAGTTTTTAAAATGGAAAAATAAAGAACCTTTAAAAAACCCAACAGTGTGGAATAAAGATAAACTTGTTGCACTCAAGGTACATTTCTACTTTGTAAAGCAAGAAGCCAATACACTCAGTTGGATAAAAATGAGAGAAAAATTGTAAATATAGAGAGTTACAGCTTATAGAGCTGAAGAGGAATAAAACAAAAAAAAGTGTCTCTGAATAACTTTATGTATTTTCAACAGTTTAAGATATCAGAAACTTGGAAAATAAATATGATATATATATAAATCATCAGTGATTATTTCCTTTTCATTCCCCCCCGCCCCCAGGATGCCACCGTGAGTGTTTGATTTTCTCTAGGAAAGTAGAATTCTCTTTGAGAGTTCTAGCCTGTGAACTCAGTATGTAAATGTGGCCATCAAGAAGACAGAACTGCCAAGAGGAAAGATTATGAATGTTTTTCTTCCTTAAAACCATTCACAGTGTTTCTTCTTCCAGTGCTTTACTCAGACTTCTCCCCTTTTCCCAGCTCTGTTGAAAATGGCTTCAAAAGCAACACTGCAGTGGCTAAACCAATTGTACTGTGAAGTTGTTGAGATGCCATTTCATCTGAATCCTTCGTAAAAATTAGATTTTTAAGTAGGGGTGAATATCCTTTTGGGAGAGGGAATGGGAGGGTAGAAGAAGGGGGGAAAGGACAGAGCA)$ MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISS|attsfiglqgisvwksngvqstsliakdcqnyktccgaltcqkplekev* 604 ENSG00000114416.18 ENSG00000144560.15 +/+ -/- chr3:180912736 chr3:11565019 CDS/splice-site CDS/splice-site inversion 0 10 0 36 112 medium out-of-frame . Agenet_domain(100%)|Transcription_cofactor_vestigial-like_protein_4(100%) . . ENSG00000114416.18 ENSG00000144560.15 ENST00000357559.9 ENST00000273038.7 downstream downstream . ^(CCTTTGC)GGTTCCAACATGGCGGAGCTGACGGTGGAGGTTCGCGGCTCTAACGGGGCTTTCTACAAG|GAACAAGACTGCCAATGGAGACTGCCGCAGAGACCCCCGGGAGCGGAGCCGCAGCCCCATCGAGCGCGCTGTGGCCCCCACCATGAGCCTGCACGGCAGCCACCTGTACACCTCCCTCCCCAGCCTTGGCCTGGAGCAGCCCCTCGCACTGACCAAGAACAGCCTGGACGCCAGCAGGCCAGCCGGCCTCTCGCCCACACTGACCCCGGGGGAGCGGCAGCAG___AACCGGCCCTCCGTGATCACCTGTGCCTCGGCTGGCGCCCGCAACTGC(AACCTCTCGCACTGCCCCATCGCGCACAGCGGCTGTGCCGCGCCCGGGCCTGCCAGCTACCGGAGGCCACCGAGCG___CTGCCACCACCTGTGACCCCGTGGTGGAGGAGCATTTCCGCAGGAGCCTGGGCAAGAATTACAAGGAGCCCGAGCCGGCACCCAACTCCGTGTCCATCACGGGCTCCGTGGACGACCACTTTGCCAAAGCTCTGGGTGACACGTGGCTCCAGATCAAAGCGGCCAAGGACGGAGCATCCAGCAGCCCTGAGTCCGCCTCTCGCAGGGGCCAGCCCGCCAGCCCCTCTGCCCACATGGTCAGCCACAGTCACTCCCCCTCTGTGGTCTCCTGAAGGGAGCGCCTCCTCCAACAACACGTGGATCTGCATGGTTTGCCTGAGCTTTGAACAGTCAGTACTTAAAAAAAAAAAAATCATGGGGGTGGGGTGGGGGGAAGGGAAGGGATGGTTTATTTGCAAAAACCATGTTGTTGGGATTTGTGTTCTGTTTTTGTACTTGCTTGGTATCCGTACAAGGGGGCCCTCAAACATGATAGCAGGAACTACGCGTGGAACATCTGTCTAATGTAGCATCCTTACTTCCTGCCTCAGTTACCAAAGAAACCTCTGATGCAGGTCTGCTGCCCCGACGGGGCCAGGACTCCACAGCGCTTTCTCAGTCACAAGCCATGATGAATTGGTGACTCAGACGCTTTGTGCTTTTTCCTTTGCTTCTTGAGACCGGGGTGTGTGTGGCTCAGCTTCCACGGCGTGTTTGGTTCGGTCCATGTGTGTGCGTGTGTATACTTGAAGAGAACTGTCGTGTCTGATTTGCACTATTGGAGGAGGACTAAAGTTGCCTGACAACTTTATGTGTTATGCCAGAACTCTGAGGGCAAACTGCTGAAAAACAAAGGGTTTAAGGATGACATTTCTGACCATTTGTGTGTTTGTTGTTGTTACTGTTTTTGTTTTTTTTAATGTAGACAATACAGCTTTGGAAGGGGAAGTCTCATACAGGTTATAGGTCTTTCTCTCTCTAGATTTCAGGTGCTTGCAACTGGACTGCAGACTCTACCAATCACGGGCATTTTATCTTCTCTGAACACTGCAGTTTGTTAGACTAGAGCTGAGGTTGGAGGATTCCATAGTGCTTTAAACGTGATGCATGTTTTAATGGAGAAAAAATAGCTGGTTTCTATTAATTATATAGACAGTAAACAAAAACCTTAATACTTACTATCTTCTTTTCAGAATTAGTTTATTTTTGTCAGTTACAGTCCTAGATATACTTACTGCTGGTACAGTTGTACTCTAAGATTGGTATTTGATATTCACTTTACTCACAAGTAGTGCGGGAGGCCAGCTCCTGGCAGGCCCTCGCGATGAGCAGTGGGTCAGCTGCGGTGTGGGATGCTGGAGTTTGGCTGCAGGCTGACATCATTTATTTTTGCATCCCTGTCTGCTTTGTTACAAGCTCCCAGGGGAGGTGGGGTTTGTGTCTTCCAACTTCCCTACATGCAGAAACTGCTCCCTTTGAACTCTCTTGGCTGAACAGCAGATTACTGACAGACAATCTGTGATATGGTGTTTTATACGCTTCCTCGTACGCTGGGGCCAAGGCAGTATACATTCCTCTGACTTTATACTGTTATTACTGCATTTATTATTTGCTATATTAATAGCTACTAACTAGAAATTAGATGAAGCAAGCATGACAGACACAGCTGTGGAGGTCACAGCTGCTCCTTTTTGGTCAATGAGCGTTTCTATCCCCTCCCCCTGGGGTGTGCTGTGTCCCACCTGGCCCACCAGAGGCTCACGACGATGGCACCTGACCAGGTGACGTGGGCGTGGTCACCTCACCTGCAAGGCTTTGTGGACTCTGCACACCGTATGACCCCCGGTTTTACAGTTTTTAGCTGTTGAATTTTGGAAATTGGCACTGGGTGAAAAGGTCGGAGGACTGGCTCTTGTAGTCACAGAGTGGCTGCAGGCCTTTGAAAAGTGGAGGAAAGAAAAGCCCTTCTCCTTGCCCCGCACACATTTCACTCCCACTGTACTGGGCTTCCAAGCTTTGGCATTCAGGCCCCTATATTTTCTGTAGGAAAAATCGTTGAGAACACTTTTCTATATGGGTGATTTTGAGACCATCGTTACGCTGTGCGTAAAGAATGTACAGAGAAATTTGTAGGTATTTTTTGAAGAACATTAATTTGTTAATGATATGTAGCTATTTAATTTTTCCCTTTCCTATTGTAATCATTCATTTTTTTTGTTGTTCGGAAAAAAAAAGTTGATCTTTTTTTTTGTCGTAGATTTGTCTGTAAAAGTGCAGGAACAGTTATTCTATGAGAACACTGCATCTGCATTCATAGCCACGAGTTTGTTATTGCTACAGGCTACTGAGCGTCGTAACAGGAAAACCACCCACAGCTGACCGGCTCGGTGGAGGACACTCCTGGGACAGGTCTCTTTGTCAGTGAACAAGGGCGTCACTCTGGGAGGGGTCGGCGGTGCTGGCGGCCGGGTCCCTGGTGCACTGACCTATCTGGGATAGGCAGTACCCTGGAGGGGGGCCTGGGGCAGAGGAGGCAGCAGAAAACCAAACATTTCACTGAGAAAGCCCCCTCCCTGCTCTAAGAAGGGGCTCCGTGAAGTTCTTCCCAGAGCCGCGCTGCCTGCAGTGCGCTCTGACCTTCTCTTCATGTGTGTAAATCTGTAATATACCATTCTCTGTGGCCTGTTTTTCCTGGAAGAAGAAAAAAAAAGGTTTGGCAGGCCATCTTTTTTTGTACTTAAAAGTAGCCTTAAGAACAATAATAAAGTGCTCTTAAACC)$ MAELTVEVRGSNGAFYK|eqdcqwrlpqrppgaepqphrarcgphheparqppvhlppqpwpgaaprtdqeqpgrqqasrplahtdpggaaaepalrdhlclgwrpqlqplalphraqrlcraracqlpeaterchhl* 604 ENSG00000144560.15 ENSG00000114416.18 -/- +/+ chr3:11702971 chr3:180933334 CDS/splice-site CDS/splice-site inversion 1 1 0 19 58 medium out-of-frame . Transcription_cofactor_vestigial-like_protein_4(100%)|Agenet_domain(100%),Fragile_X-related_1_protein_C-terminal_region_2_(100%),Fragile_X-related_1_protein_C-terminal_region_3_(100%),Fragile_X-related_1_protein_core_C_terminal(100%),KH_domain(100%) . . ENSG00000144560.15 ENSG00000114416.18 ENST00000273038.7 ENST00000357559.9 upstream upstream . ^(ACATTTCAGAGCAGTCCGGGTTGTGGACGCCAGGAGTTTGCCAAACACAGCAAACACTGGTGTGTGAGCGGCTGAAGGGGACTCTTTCCACTCCGATCTCCCTCCCTCCCAGCCTGTTTTGATTTACTAGGACTTCCTCCTCCGGGCGAGGCGGGGGAAGGACGCCGCCGAGCGCCTGGAGTTGTGCGCGTGTGCGTGTGCGCGTGTGCGAGTGTGAA)GTGCAGCGCTGGAGTGCAACATGCTGTAATGGGAGGAAACCCAGCGGCGTCGGAGCGCCCGGGACCGCCGCGGCCGTTCTGAGCGCAGTGGCGCCGAGCAGCCCCTCCCGCAGCCGGTGTGACCTGTCCCTTCAG___GCTCCAACCAGGAATGGAGACGCCATTGGATGTTTTGTCCAGGGCAGCATCTCTGGTGCATGCTGATGACGAAAAAC|GGATTTATCAAAGATGTTCATGAAGACTCCCTTACAGTTGTTTTTGAAAATAA___TTGGCAACCAGAACGCCAGGTTCCATTTAATGAAGTTAGATTACCA(CCACCACCTGATATAAAAAAAGAAATTAGTGAAGGAGATGAAGTAGAG___GTATATTCAAGAGCAAATGACCAAGAGCCATGTGGGTGGTGGTTGGCTAAAGTTCGGATGATGAAAGGAGAA___TTTTATGTCATTGAATATGCTGCTTGTGACGCTACTTACAATGAAATAGTCACATTTGAACGACTTCGGCCTGTCAATCAAAATAAAACTGTCAAAAAAAATACCTTCTTTAAATGCACAGTGGATGTTCCTGAGGATTTGAGAGAGGC___GTGTGCTAATGAAAATGCACATAAAGATTTTAAGAAAGCAGTAGGAGCATGCAGAATTTTTTACCATCCAGAAACAACACAGCTAATGATACTG___TCTGCCAGTGAAGCAACTGTGAAGAGAGTAAACATCTTAAGTGACATGCATTTGCGAAGTATTCGTACGAAGTTGATGCTTATGTCCAGAAATGAAGAGGCCACTAAGCATTTAGAA___TGCACAAAACAACTTGCAGCAGCTTTTCATGAGGAATTTGTTGTGAGAGAAGATTTAATGGGCCTGGCAATAGGAACACATGGTAGTAACATCCAGCAAGCTAGGAAGGTTCCTGGAGTTACCGCCATTGAGCTAGATGAAGATACTGGAACATTCAGAATCTACGGAGAG___AGTGCTGATGCTGTAAAAAAGGCTAGAGGTTTCTTGGAATTTGTGGAGGATTTTATTCAGGTTCCTAGGAATCTCGTTG___GAAAAGTAATTGGAAAAAATGGCAAAGTTATTCAAGAAATAGTGGACAAATCTGGTGTGGTTCGAGTGAGAATTGAAGGGGACAATGAAAATAAATTACCCAGAGAAGAC___GGTATGGTTCCATTTGTATTTGTTGGCACTAAAGAAAGCATTGGAAATGTGCAGGTTCTTCTAGAGTATCATATTGCCTATCTAAAG___GAAGTAGAACAGCTAAGAATGGAACGCCTACAGATTGATGAACAGCTGCGACAGATTG___GTTCTAGGTCTTATAGCGGAAGAGGCAGAGGTCGTCGGGGACCTAATTACACCTCCGGTTATG___GTACAAATTCTGAGCTGTCTAACCCCTCTGAAACGGAATCTGAGCGTAAAGACGAGCTGAGTGATTGGTCATTGGCAGGAGAAGATGATCGAGACAGCCGACATCAGCGTGACAGCAGGAGACGCCCAGGAGGAAGAGGCAGAAGTGTTTCAGGGGGTCGAGGTCGTGGTGGACCACGTGGTGGCAAATCCTCCATCAGTTCTG___TGCTCAAAGATCCAGACAGCAATCCATACAGCTTACTTGATAATACAGAATCAGATCAGACTGCAGACACTGATGCCAGCGAATCTCATCACAGTACTAACCGTCGTAGGCGGTCTCGTAGACGAAGGACTGATGAAGATGCTGTTCTGATGGATGGAATGACTGAATCTGATACAGCTTCAGTTAATGAAAATGGGCTAG___TCACAGTTGCAGATTATATTTCTAGAGCTGAGTCTCAGAGCAGACAAAGAAACCTCCCAAGGGAAACTTTGGCTAAAAACAAGAAAGAAATG___GCAAAAGATGTGATTGAAGAGCATGGTCCTTCAGAAAAGGCAATAAACGGCCCAACTAGTGCTTCTGGCGATGACATTTCTAAGCTACAGCGTACTCCAGGAGAAGAAAAGATTAATACCTTAAAAGAAGAAAACACTCAAGAAGCAGCAGTCCTGAATGGTGTTTCATAAACTGAAGAAGTTCCTAGTTTACAGTTCTTTTACATTACATTTACAATAGTGCTTGTACAAGCTTGCCAAAGATAGAATATGGATCGCCAGTCTTTACATCGCACTTTCAGTTCCTCCATTTGGAATTCAAAAAGGGGAGGGATCCTGAAGAAATCATATGTTAAACATACTTTGACACCTACTGTGTTATAAAATATATCATCAGATGTGCCTTGAGAATAGTATATGTAACATTAAAAAAAAGTTGCTGGCTATAGGAAATGTTATTTTGTTTTCAAAATATGGCAGAGATGGGGGGTGGTGGGTGGGGTGGGATCCCTAACGTAATATTCTTTATGAAAGCATTAGCTGCTTTTGTTACATTTTTAATATGCAACCACTTCTTCACCTGAGGAAAACTAGAATGAAATGCAGTCTAAAATATTTTGCACTGAATTGTAATTTCTTCATTAGTTTAGTCTGGAAACTGGTCTGTTTTAATGTGTTTTTTAAATGCTGTATGTAGAGGAAAATCTGCAGACCACTGGAATACATTTGTTAAACTCTCATCTGCAGGGACACTGGGCGATACTTGGCAGTGACTGTTCTACCTTGAGGCTTTGTTTGGTTTATTTATTAAAGTGTACAGTATTTAAAAATCAAACATAGCTTTAGTTAAAACACTAAGCTGAATTAGTCATGTCCATTCAGACATAACCTGAACTACTGAAAAGATCAATTTCCAGAAGGTTTATTCTGTATAAACTACATGTTAGTCTTCAGTAGAGTATCTTTTTTTTTTCCTTTTTTTTTTTTTTATTTCGGTTGTTTGATGTGCAATATGTTTTTGTATGCAGGTAGTAAATAAACTTTGATCTTCCATTTGCTGAATTTTTTTAACTTTCTACTTTTTACACCAATTGTTGCAAAATAGTTGGAGCTATTAATAGGCTTAGGATAGTATACTTTGCTTTTTAAAAAGCATTTATACTTGCTCATAAATAGCATTAAAATGTCAGTTGGCCATTTAATCATTTTGTAATGAATCATCTGAAATCTTTACACAAGTTTAGGCTGTTAGATGCATAGGTAATTAATAATACATGTGATAATTAGCAAAAAAACCTAACAAAATTCTAATCAAAGGCAACTTTGGAAGACAATGGGGGATAGAAGGGATGACAAGCAATTTTTAAATAATAGGCCAATGATTTGCTTTATTCATTCTCAACTTATTTTGAAGGCTCTCATATCAGTGACCAAAAATCAGTTATTAAACTTTATGTATATATTTTAGCCAGAGCTTAATTTTTATGAAGATAAAGACATGAAGTTTAACAATGGACAACAGTTAGTACAGCTAATTGTGAGGTCAAGTAATTGTTAGACATAGGGGAAGGCTTTGTTCCACAATATTATATGGACCACTGAACAAGAATGACAGCCCTTTGTTATCACTTGGCATATGAAAAGTGTTGTGTGCATAGTTTGTGTTAATTTTTTATGTGCATAAAAATGTGATTTTAATTTATATGCTCTGAAGGATAATTCAGGGTATAGTTAAAAATGTACAATGTGCCAGTTCAGTATATATAACCCTAGCCCTCAAATTATTCTGATTAAGGTTAAAATGTGCTGGTATTACGTGCTTTTTCCTGAGGCCTTCTGATTGGTTCTTGGTAACAGAATTTTAAAGTAAGGTGTGAGTAGTGCAACTCCTGTCCTTTATATATAAAGATATCAAGTAATTTCATGTCCTGATATTTAAAAAAATTACCCACAAATGTGTTTTTTTAAATCGATCAAAGCTAGCAACAGGTTAAATTGTCTCAGTTCTCTTACATAATTGGGTTAAAAATTATAAGGTATTAGAAGAATTTTAATTAATGCCAAATTGGTAAATATGGTGTAAAAAAAAAAAAAAAGACTTTTCATTTTCTCCCACATAGAATAGTCAGATATATTAAACATCCCTTTTCCATAAAGATGGTTTCAATGGGAATGGAAGAAACAAAATCTTAAAAGAGTGAGTATAGCTGAACCAATTCTTCATTCTAGCAATAACCACACTAAGTTCATTACTTTACAAATGACTAAACCCAATGTCTTGTCCTTTAAAAAATATAGGTAGTGCAGAATTGTGATAAATACGCATTTGTTTTTTTAGAGAGCCCCACTCCCCAAAGGGTAGCCATTAATTCAGGTAGCCTTTTAAATGTATTTGAGAGGGTTCCGTCTTTTTGGCTGCTATCCTAGTTAGGTGAGATGTTGCTATGGGAAGAACTTGCCACTATACACTAAACAGACACTTAAGCAAAAGATGTATTCTGGAGCCTGGCACAGTAGCTTATGTCTTTGGTTCTAGCTACTCAGGAGCCTGAGGTGGGAGCATCATTTGAACTCAGTTCTGGGCCACTGAGACCCTCTTTAAAGAGAAGGAAAAAAAGGTATTCTGGAAGATCTTGTGCAGTTGCAACAATGTTTCAGCATATATATGTGAATTCATATATGACACCTGAACGGAATCATGAAGTAACAGCTGAGATTATATGGTGGCAAAAATGACCTGCTTTTCCTGAAGCTTTGGGAGGCCTAGGATTCTTGCTTTAGGCATCACCTTTGTTAAGCCTTAAAGGGGGCTACAACTTGTGCAAAATGGTGTCTCTGGTAACACTTCAGAAATAATTGGCAAAAGTGTAATAGGAATACACAAATCTTTATTTTGAAATAATCTTGTATTTTAATGTGGAATTAGAAGCAGCACATCAAACTGGTGAGTTCACAGAAACTTACCTGAGATGATGCTGGGTTCCATTGCTGTTGTGCTAAGTCACGTATTTTTGTAGCTGCTGTTAGCTGTGTCTAGCGTTTTGTAACCTAAGGAGGGTCTTATAGAAGTTGGTATGTTAACTAAATCTTGGACTGGGAAACAGCACCATTTGTATCCTCTGCAAACAGATTTACGCTTTTGAGGCTCAAACCAACTAGTGTTCTCATGGGCTGTTGCCTAAGGACAGATAAACATGGAAAACAGGCTATGTCCAGGGACAGATGATTGGTGGTTAAGAATTACAGTAAAGGAAAATTACACCTGGATTTTCTTCTGTAAAGTTTCAAGGAACTTGGATTTGAACTGTGAATCTACTGTTTTGGCAAAAAATCTCAAAGAAAAGGATGTTTGTTACTGTCTCAGTCTTCCTGTCTTTGCTACACGATTTGGATCCCTTACGCTTTTTCGTTAAGAATATCTGTCTGCTATAGTGAATTTGCTAGCCCCTTATTTTTTTTTTTAATTTTAGTTCTTTATTAGAACGTGTACTTGAATGGACTGTAGTTGCTCATAACCCATGTTAATCTCTGATAGTATTTGGGTTTTATTTCAGGAGCTTTTGCAATAAAGCAGTAACTGCAATCTGCTAAAGTCAGACTGTTAGCAAGTGGTGTTAAAACTGATTTAAGTCCATTACACTGAACAGTAGGAAATTACCACTTTTGTAAGGCTCAAAAATGATCAACTATTAACAGTTTCTTATGGTTCAGTCTAATTACAAATTTTTAAAAAGTTTATCAGTGTATCATTTCAGATTCATCTGTATCTTCTGTAATATTATTTCCAGTACTGAGGTAAGGTACACAAAAATTCCCCTGGAAAAACTATATTCTAGTTTTGTAAGATGATTTCCCACAGTCCATTTGCTTATTTCTTCCTTTGATAATTCAAAAAGATGCTTTAGGTAATGGTACAGAATTAGAAGCTGCTATTTTAGCTCTATTAACTTTTTCTCTATGGTTTCAATTTTATCCAACCAGAGAGGGCTGGCCTAGTTGGTATCTTTAAGGCCCTTCCAGTAGTAATTTGAGTCTAGTCACATGTCAGACCCTGAGCAACACCTAACCAAATGCCCAAGTATTCTCATAAGGAGTATGCTGAATTTAAGTGGTGTTTGTTTTACATATGTATCCATCCCAGACATTTTCAACTATGCTGAATGCAATCTATAAGATATTCCAAACAAGGACAAAGTAATTTTTCACAAGTCTTACAGCCCCACTATTAAGTATGCTACTAATTAGCTTCTTGAATTTCTTTGTATTTCAGTGATTGGGATGTTCTTTTTTTTTGGGAAAGTTTTTTTACCCCTTTGTACCCTCTTAATTGGATTAACTGTAAAATGTACATATTAATTTTCTAGTTTTAGAGACCATTTTCATTAAAAATATTTTCCAATAGTTTTTCTAGATAAACAATTTATACTTAATTGTTGCTTGGTTGCTTACATTTCAACCTCTAGGCTTCCTTTTTCAGCTAACTTGGCTGTCTTCAGGTTGTAAAGAAAAATGTAAACATATATTTGAAATTTCATTAACTGAAACTGCTGTAAGGTGTTAGCAAATGTTAACCATAACAGATTATCCCATATCATTGGACTGTTCTATTATTGGGTCAGGAATAATAGGTGACACAGGATAGAAGCTCTTCCTATATATATCTTGTTGCTAAGGCAGTAGTTGGCTCTAAGCTGATAAACAGCACACTGTACAGCAGTCCAAAAACTAAAACCAGAGCTTAGGTCATTCAAGTTAACTGGTACTCAAGGTTACTCATTCCAGGATACTTTACATAACCAAAAACCTAGGAGAGCATTCTACATTGTAATTTTTTTTTTACTTTGTTTACATAAAATTTACAGGGTTTTGTTTTTTTAAGCTTAGTCTGTTCTTTGACATTGTTGATTCATGTTCTAAATTTTCATCAGATTTAACATGTTTGGAGGTTCTTGTGCACTCAATGTGAACCTACTACAAGCTTCTGAACTGCAAAACCTTTTTTTTAGGTCACTGTCAACAGAAAGATGCCTTATAGAATTTCTCATGATTGAAACAGAACTCTGCATTCTAACCTAAAACCCCTCTAACCCTTTAAATGAAGCATTATGCCTGCGTGAAATTTTATTTTTAGACATTTCTGATACTAGGTTTTCTTTACGGGGGGGCATACATATTCAGTATACTGAATTTATACAGCTTTCAGTGTGGCAATATATTAAGAAGCTAGTTCCCTAATTTTTCTCAGTTCTCATTGGTTTTCCATTTAAATGTTTCCGTAAGTACTCTCATCATTTGGAAAATACTTGATGGCAGGAGAACTTGCTTAAAACTAAAGGTGGAGAAAGAGTTAACTTCCAGGACAACCCATTATAGCTCACTTCTTACCAACAAAGCAGTTTTTATACAGCACCTTAGGACTCATTTCTAATGTCAACCCAGATGGCCAGTAAAGGCAAGGGAAGAGGCTAAGTGACTCACAAAAATCTCTGATATTGAGGTCTAATGTGAAGGCTATAGATAGGAATTCCCCACAAACTTCTAATGAGGACTAATATGAACAGCAAATTGGAGAAGACACCAAGGACCTAATTTTAGTTTCACTAGCCGTGGGACCTTAGAAAAAAGACCATTTGCTCTGGACTTTTGTTTCCCAAGCCATAAAATGTGGAAGAATCTTCACAATTTCAAGTTGGTCATGTATATTTCCCTTTTACAGAGAAAGCTGAAGCCTCGAGGCTCAGATTTACCTGGCTTCTGTTTACCTGGCTTCTGCAGAAGTTTAACTTGTAACCTACCTCTCATTCCCAAAGTGTGTTTAATCATGCCGCCTTCTTTAAAATATATCTGGAAGCACCAATGAGTAAAGACAAAGGCCCCAAGCTAGATCTGTAGAGATAAGTACTAGACTCACATCTCAGTACTATCAAGGAAAACATGCTTAGGTTATCAGAATTGTGAAGGCCATAGTACAAAAAGTTAAGAGAACGGAACTCAGGATCTGAGAAAGATCAGCCATTCTCAGCATGTTGCCTTGGCTGCTTAACCTTACTAAACTTCCATTTCCTCACATGTAAAATGTACATCATAATAACTAGTCTACTGAGATAAGGGAAGAATACTTAGCACAGTGCTAGTACACTGTAAGTACTCAAATGTTACAGATCCAAGTATTTTGTAAGAAAATACCAGCAAAAGATAAAAGTTTTTTTATGGATCGTATTTGTATCAATCACCTACATGATCTAGAGCCCTCACATGGATAACATTTAAATGTTCAGTTTGCCTAATAGCCTTCAATGAAACACGGATTCTTCTACTTAAAAAAGGTAAGCCTGGAGAAAATAAAACTGATTACTATGCAAGAAAAAAATGTGCTCTGCTGTGCTCCTTGGTATTTTTAAGTGGTTTCCATTGTCTTAACACCTGTCTTAAAACGGGTATGTTGTTTGCACTGAACCCTCAAAAGTATTTATACCTATTAAGTTAAATTTCCCTTTTTAGAGTTAATGCTTCATTGCCTGTCGGCATATTATCACTATCTGTCTTTGAAAAATTTTCTTTTAAGTCTCAACTATTTCTTCATAAAGCTCTTGTTCAGAGAAACATTTTTTGATTTGTCCAATGGACTGAAATAAAAGGTTAGTAAACCAAAA)$ METPLDVLSRAASLVHADDEK|riyqrcs* 604 ENSG00000238098.9 ENSG00000205937.12 +/- -/- chr16:2339655 chr16:2255726 intron CDS/splice-site deletion/read-through/3'-3' 2 4 0 13 457 medium . . |RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%) . . ENSG00000238098.9 ENSG00000205937.12 . ENST00000566458.5 upstream downstream duplicates(2) GTCCTGGACTGTGCACTCCGGGAAGGCGTCGATTGGATCTTGTTGGGGTTTGTGTTCCTGGAACTCCAGAAATGCCCGCTGA|GACAAATTGATGGCCAGGAGATCACTGCCACCGCCGTGCTGGCCCCCTGGCCTAGGCCACCCCCCAGGAGATTCAGCCCTCCCAGGAGAATGTTGCCACCACCGCCTATGTGGCGCAGGTCTCCCCCACGGATGAGGAGAAG___GTCtCGCTCCCCGAGGCGCAGGTCCCCCGTGCGCCGGAGATCACGGTCCCCGGGCCGCCGCCGCCACAGGAGCCGCTCCAGCTCCAACTCCTCCCGATAAACAGGCCACTGAAGCTCTCGCCCCTGTAACTTATACCCCACCCAGCTCAGTTTTGTC(ACTTTTCTAGCCAAAGGAAGACCAGTAGGAAAGCAAACCCTTGACTCTGGCAGGATTTGCAGGCAGCAGGCAGCACCCCTCTGCCAGCCGGGCCCCGGCTGCAGAAGTGCTGTTGGTTTGGATGCTGTGTGCCTGTCAAGATTCCCTCCGGTTTTCTGGCTAGAAAGCTCATCCGTTTCCGGTTTCTAAGAGTCAGTTCAGTGGCAGAGCCACCAGGGAAAAGTGAGGCTCTTGGGGGTGGTTTGACCCTGCTTACCTGGGAGCACACTTTTCCCTTCCCCGATGACCTGGGATGGTGGCCAGGCCGTGCCCTTGCTGTTGCTGGGCAGTGTCCTTTTGGAAAGGGAGCTGCCCCAGGCTTTAGTGCAGCTGCCAACCCTGTTAGGCCTGGCCTCTCGAGGCCTCTTCTGACCTCAAGGGTCACACCCCCTCAAAGATCCTCTCACCCATGGTAGTTGCTGCTCGTGGTTCTGTCTGTCCGTGCACCGATGCACACACCGCACCCCACCACTGTACTCTGAAATTGGCGAGTGAGTGGAGAGCCAGCTCTGCGGAGTCATCACGCAGCCATGGTTGTGCCTGCCGTTCATGGTGGTCTTTCAGGTTATCTTGGCAACATGTACATTGCTTTTATTTTTTTTCTTTTTTGCTTTCATTGTACAGTCAGTACTATAAAATTTCTCTTTTGAGTTTTATACCTTTGTAGCATTTTAGATGACATTGTGTTTGTACTTTGTTGTGTAGAGTGGAAGAATTGTGTTGAATAAACCCAAGATCGGAATGCAAATCT)$ . 604 ENSG00000167972.14 ENSG00000205937.12 -/- -/- chr16:2340573 chr16:2255726 5'UTR/splice-site CDS/splice-site deletion/read-through 2 2 0 6 457 medium . . |RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%) . . ENSG00000167972.14 ENSG00000205937.12 ENST00000382381.7 ENST00000566458.5 upstream downstream . ^(GCGGCCGCTGCGTCCGCCAGTAGCGGGTTGCAGGCGCA)CCCTCCCCTCCAGGGCGGCCACGCAGCTGTCAGTGCCGCCGCCACTGCGAGGCTGGAGCGGAGCCCGGGTGGCCGAGGGAGGGGACCCCGCGAGAGGGCCGCGCGCCGGCCGCCGCCGCCCCGGCGCCCAGGCTCG|GACAAATTGATGGCCAGGAGATCACTGCCACCGCCGTGCTGGCCCCCTGGCCTAGGCCACCCCCCAGGAGATTCAGCCCTCCCAGGAGAATGTTGCCACCACCGCCTATGTGGCGC(AGGTCTCCCCCACGGATGAGGAGAAG___GTCCCGCTCCCCGAGGCGCAGGTCCCCCGTGCGCCGGAGATCACGGTCCCCGGGCCGCCGCCGCCACAGGAGCCGCTCCAGCTCCAACTCCTCCCGATAAACAGGCCACTGAAGCTCTCGCCCCTGTAACTTATACCCCACCCAGCTCAGTTTTGTCACTTTTCTAGCCAAAGGAAGACCAGTAGGAAAGCAAACCCTTGACTCTGGCAGGATTTGCAGGCAGCAGGCAGCACCCCTCTGCCAGCCGGGCCCCGGCTGCAGAAGTGCTGTTGGTTTGGATGCTGTGTGCCTGTCAAGATTCCCTCCGGTTTTCTGGCTAGAAAGCTCATCCGTTTCCGGTTTCTAAGAGTCAGTTCAGTGGCAGAGCCACCAGGGAAAAGTGAGGCTCTTGGGGGTGGTTTGACCCTGCTTACCTGGGAGCACACTTTTCCCTTCCCCGATGACCTGGGATGGTGGCCAGGCCGTGCCCTTGCTGTTGCTGGGCAGTGTCCTTTTGGAAAGGGAGCTGCCCCAGGCTTTAGTGCAGCTGCCAACCCTGTTAGGCCTGGCCTCTCGAGGCCTCTTCTGACCTCAAGGGTCACACCCCCTCAAAGATCCTCTCACCCATGGTAGTTGCTGCTCGTGGTTCTGTCTGTCCGTGCACCGATGCACACACCGCACCCCACCACTGTACTCTGAAATTGGCGAGTGAGTGGAGAGCCAGCTCTGCGGAGTCATCACGCAGCCATGGTTGTGCCTGCCGTTCATGGTGGTCTTTCAGGTTATCTTGGCAACATGTACATTGCTTTTATTTTTTTTCTTTTTTGCTTTCATTGTACAGTCAGTACTATAAAATTTCTCTTTTGAGTTTTATACCTTTGTAGCATTTTAGATGACATTGTGTTTGTACTTTGTTGTGTAGAGTGGAAGAATTGTGTTGAATAAACCCAAGATCGGAATGCAAATCT)$ . 604 ENSG00000197140.15 ENSG00000165061.15 +/+ -/+ chr8:39169997 chr8:40699853 CDS/splice-site intron deletion/5'-5' 3 0 0 27 55 medium stop-codon . Disintegrin(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%)| . . ENSG00000197140.15 ENSG00000165061.15 ENST00000437682.6 . downstream upstream duplicates(1) ^(AGCTGGATGTTTTAGCCTCGGGGCGCACGCTGCGGGCCCTTCGTGTTCCGGACGCTAAACACCGAGAGCACCCCGTCTCCGGGGCCTCCGGAGAACGCTGTCCCATGAACGTGCGGGGAGCGGCCCCCGGCGTCCGCGCGTCCCCGCGTCCCTGGCAATTCCCGACTTCCCAACGGCTTCCCGCTGGCAGCCCCGAAGCCGCACCATGTTCCGCCTCTGGTTGCTGCTGGCCGGGCTCTGCGGCCTCCTGGCGTCAAGACCCG___GAACAAATATCCTATATTATTCCAATAGATGAGAAACTGTACACTGTGCACCTTAAACAAAG___ATATTTTTTAGCAGATAATTTTATGATCTATTTGTACAATCAAGGATCTATGAATACTTATTCTTCAGATATTCAG___ACTCAATGCTACTATCAAGGAAATATTGAAGGATATCCAGATTCCATGGTCACACTCAGCACGTGCTCTGGACTAAG___AGGAATACTGCAATTTGAAAATGTTTCTTATGGAATTGAGCCTCTGGAATCTGCAGTTGAATTTCAGCATGTTCTTTACAAATTAAAGAATGAAGACAATGATATTGCAATTTTTATTGACAGAAGCCTGAAAGAACAACCAATGGATGACAACATTTTTATAAGTGAAAAA___TCAGAACCAGCTGTTCCAGATTTATTTCCTCTTTATCTAGAAATGCATATTGTGGTGGACAAAACTTTG___TATGATTACTGGGGCTCTGATAGCATGATAGTAACAAATAAAGTCATCGAAATTGTTGGCCTTGCAAATTCA___ATGTTCACCCAATTTAAAGTTACTATTGTGCTGTCATCATTGGAGTTATGGTCAGATGAAAATAAG)ATTTCTACAGTTG___TTATATGGATTATCCTCGTTATTTGGGAGCAGTGTTTCCTGGAACAATGTGTATTACTCGTTATTCTGCAGGAGTTGCATTG|AATCTATGCATCTGTTCCACCACTTCCAGTGAAAACTCCAGC . 604 ENSG00000215146.5 ENSG00000119596.18 -/- +/+ chr10:42367816 chr14:74829213 exon/splice-site CDS/splice-site translocation 2 0 0 31 147 medium . . . . . ENSG00000215146.5 ENSG00000119596.18 ENST00000609841.1 ENST00000325680.12 upstream upstream . ^(AGCTGGGGCTGCAGATCTAGT)CTTCAGTTCACAGAGAACTGCCCCCCAACTGCTCCCCCGTACTCTGCTCCTACAGGCCCAGCTGCTGTGGCTGTGCGACCTGCAGGGACTGGCAGACCCGTAGCTAAGACGCCAGGATTTCCTGGAAGCAGAGAAATG|ACAAGTTGGATGGCTTGAGGACTGGTACTAAAAGGAAACGTGACTGGGAGGCCATTGCCAGCAGAATGGAG(GATTATCTTCAGCTCCCCGATGATTATGATACTCGTGCTTCTGAGCCTGGGAAGAAGAGG___GTCAGATGGGCAGACCTGGAAGAGAAGAAGGATGCAGATAGGAAAAGGGCCATAGGTTTTGTGGTCGGACAGACTGATTGGGAGAAGATCACAGATGAAAGTGGTCACCTGGCTGAAAAAGCCCTCAATCGAACCAAATATATATGAGACTTAGTTTTTGAACGGAGTCATTATTCCTCTAAG___GTGGTTCGCTTTGAGGTGGTCTGAAGCCAAGGCCTCGCGGAGCTTCTTTGTGTGTCACCTTGCTTCCACGTTTCAGTTCTTGTTTTGTTTCTACTGCTTTAGTTTTTTTTAAAGTTCTCCAGTGTCCCCAAGAGGTATTAGAATCTTGCTGTACCCAAGCAAGACGTTAATTTTTCTTTTAACTGTTTTGGGGAGGGAGGGAGTGATAGCTTAACTGCTGAAGCCAGGCGGGGGTCTGCTGGAGGATTCCAACAGAGAGTATTTCCTCCACTGTACAATGTCACAGACTATCTCTATCATCATTGCTTTGTGGCTGTTTCTGTTTTTTACTGTATGTAACTGGTAGCTGATTGTACTAGGATTAAAAACAATAAACTTTCATGATAAAGCCGATGAGATTCATGGGCTATACAGCATGGGCCCTTTTCTCTTGTTTTCTTAATTTTATTTTTAATTGCTTTTTAAATATGGTATGTCCTAATTAAATGCTAGCTGAACATCCCAAAACCTTTTTTTCATTGAATATTATATGGCTCAATGATTCCGTAGCACATGTTGTAAAACACAGGGTTCAAATGATGTTCAAAACACTCATCTTTGTTTTATAGCTGATTTCTCTATCTTTGTGTCTTGAAGACTGACCAAGTTCAAATATTCATCAGTTCCCTGGAGCATATCCATTCTGTAACATGATGCTTTATTTAAAAATTTTTTTTGATCCTCTCTCTGTTCTTCCCTCTCTTCTTTCCTTCCTTCTTCTTTTCACTTTCTGCCTTTATGCTGTTAGGTTTTTATTTTTTCCTGATCTGGCTTTGAATTCTGGTAGACAGAACTGATGTATTCTGTGGAACTCAAGCTTGTTGCCTTCATTTGAACTTGAATTGTGGATTTTTAAATGAAGATTGCAGGGAAAGAGTATAAAGATGCAGAGCACTCTGGCATGTAACCTTTAAGCCTGTCAGGTTTTCAAGTTCTTGCCAGATTGTTCATTACTGGAAAGCATGGCCTTCTGCACAGAATTTCCTCTCTTGTGGTTAATACCAGGTGGAACCCAGAAACATACAGAGATAAAACCCAAATATTATTTCTATGTAAACACAGAAAAGGGACTCTTCCCTTTTTCATCCTGCAAAGAAAAAAGTCATCTTTTAGCATGAAAGAAGATGAGAGAGCCTTCTTCCTCAAGCATAATTTGCATTTTGTAATCCAACTCAGTAATTTGTAAATGTGTTCACTGAAGACTTCAATATTTTGAAATATTCTCTTTCAGGCCACAGATGAAAATCCTTTACTTTTATGACCTACATTAAAGACTGTATGAATAGAGCTAATAGTTACTAGCATTTGAATAGTATCACTTTGGGTTCAACAAATTGATATTATAGTACTGAATACCCCTAATTTAATGGAAATTCTAACAACTTTCTGTACTTTTATCTTCCCTGAAAATCTGAATTTTTAAGCAAGTGACTTTAAGTTCATTAAGTCAATATTGAATGTATAAATTGCTACATTAAATAACTTCTGCTGTTTGTAGTATTTAA)$ . 01BR044 ENSG00000150471.16 ENSG00000286097.1(166287),ENSG00000199780.1(187085) +/+ ./- chr4:61733554 chr4:59346701 CDS/splice-site intergenic inversion 6 7 0 14 18 high out-of-frame . Galactose_binding_lectin_domain(100%),Olfactomedin-like_domain(100%)| . . ENSG00000150471.16 . ENST00000512091.6 . downstream downstream duplicates(6) ^(TTCTTAAGCGGCGGCGGCAGCAGCAGCAGCAAGAGAAGGAGAAGCAGCCCCAGCTATGACTGCCGCATGTTAATAGCTGCCGCTGGGTCCCTCGGCTGCTGCTGGAGACAGAGCCTGACTCCGAAGTTGTGCAACTGTGGACTGGGAGAGACATTTGAACCCTCTTTTCTTTTCGCTCCCCTTTTGCCCCCTTGGGGTGTGTGAAGCGAGGAACGTAAAGGAAGGCGAACATTTGGCTCTCTTTTTCCTTCCCCTTTCTCCGTGGCTGTGTAGCGGAAGAAAGGGAAGAGAGACTTTTTGTTGTTGTTTCCTTGACTGGGGTCTCCACCCTCCTGCTGCTTTCTCTGCGCTTCGATTCTCGTTATTTGCCGCGTGTGGTTGGGGGTGTCTGCACAGGGGCCGGCCGGTCTTTTGCCCCGGGCTCAATGGCTGGATTGTGGAAACTGCACCCGCCTTCAGGTTGTTGAGCAACTGATGGGACGATCTCAGGGACCGGCGTTTACGAAAG___AAATGTTTAATTTGGTAAATTGGAGGAAAAAAACATGGATTTTTAGCAATTGAAGAGCAAATTAAG___GTTTCAGATTTGGGATATTGGTGTTTCTGTTTTGGAGAAATTATTCTTTTTCTTTTTAATTTGAAGAAAAATCATCAGTCTTGGAATACAGAAGAGAAACTAGAAATATACGTATTTTGTTTCACATTTGAACAGTCATTCTTGAGGAATACTCCATACCTGAGTAGACAGCCATGTGGCCATCGCAGCTACTAATTTTCATGATGCTCTTAGCTCCAATAATTCATG___CTTTCAGCCGTGCCCCAATTCCAATGGCTGTGGTCCGCAGAGAGCTATCCTGTGAGAGCTATCCTATAGAGCTTCGCTGTCCAGGAACAGACGTCATCATGATAGAAAGTGCCAACTATGGCAGGACTGATGACAAAATTTGTGACTCTGACCCTGCTCAGATGGAGAATATCCGATGTTATCTGCCAGATGCCTATAAGATTATGTCTCAAAG___ATGCAATAACAGAACCCAGTGTGCAGTGGTGGCAGGTCCTGATGTTTTTCCAGACCCGTGTCCAGGAACCTATAAATACCTTGAAGTGCAGTATGAATGTGTCCCTTACA___AAGTGGAACAAAAAG___TTTTTCTTTGTCCTGGACTACTAAAAGGAGTATACCAGAGTGAACATTTGTTTGAGTCCGACCACCAATCTGGGGCGTGGTGCAAAGACCCTCTGCAGGCATCTGACAAGATTTATTATATGCCCTGGACTCCCTACAGAACTGATACCCTGACTGAGTATTCATCCAAGGATGACTTCATTGCTGGAAGACCAACTACAACCTACAAGCTCCCTCACAGGGTGGATGGCACAGGATTTGTAGTGTATGATGGAGCTTTGTTCTTCAACAAAGAGCGCACCAGGAACATAGTAAAGTTTGATTTGCGGACTAGGATAAAGAGTGGAGAGGCTATCATAGCAAATGCCAATTACCATGATACCTCCCCTTACCGATGGGGAGGCAAATCTGACATAGACCTGGCAGTAGATGAGAATGGGCTATGGGTAATCTATGCAACAGAACAAAACAATGGTAAAATTGTCATTAGTCAATTGAACCCTTACACCCTACGGATCGAAGGAACATGGGATACTGCATATGATAAAAGGTCAGCTTCCAATGCCTTTATGATTTGTGGAATTCTGTATGTGGTCAAATCTGTATATGAGGATGATGACAATGAGGCTACTGGAAATAAGATTGACTA)CATTTACAACACTGACCAAAGCAAGGATAGTTTGGTGGATGTACCCTTTCCTAATTCATACCAGTACATTGCAGCTGTGGATTACAACCCCAGGGACAACCTACTTTATGTATGGAATAACTATCACGTCGTGAAATATTCTTTGGATTTTGGACCTCTGGATAGTAGATCAG|GAGAGAAACTCCTAGAAATGAAAATACTGGGTCAAGTGTATAACTATTATGAAGACTCATCACAGGAAAGTTGCTTTCCAAATGCATTGTTATTTTATGGGATGGTGTTTTAACAGAAATGATCTGTGCTTCAAAGAAAAAGCATAGTGCAATGTTTTCTAGAATAGTAGATTCTGGGGCTAGATAAAGGTAATGTCATGTGGGAAAGTCAGTGATTCTTTTCAGTCCATCTCACATGTGCATAAAGG MWPSQLLIFMMLLAPIIHAFSRAPIPMAVVRRELSCESYPIELRCPGTDVIMIESANYGRTDDKICDSDPAQMENIRCYLPDAYKIMSQRCNNRTQCAVVAGPDVFPDPCPGTYKYLEVQYECVPYKVEQKVFLCPGLLKGVYQSEHLFESDHQSGAWCKDPLQASDKIYYMPWTPYRTDTLTEYSSKDDFIAGRPTTTYKLPHRVDGTGFVVYDGALFFNKERTRNIVKFDLRTRIKSGEAIIANANYHDTSPYRWGGKSDIDLAVDENGLWVIYATEQNNGKIVISQLNPYTLRIEGTWDTAYDKRSASNAFMICGILYVVKSVYEDDDNEATGNKIDYIYNTDQSKDSLVDVPFPNSYQYIAAVDYNPRDNLLYVWNNYHVVKYSLDFGPLDSRS|gekllemkilgqvynyyedssqescfpnallfygmvf* 01BR044 ENSG00000105877.18 ENSG00000164651.16(1954),ENSG00000219451.3(38486) +/+ ./+ chr7:21884410 chr7:20788840 CDS/splice-site intergenic duplication 11 1 0 42 16 high out-of-frame . AAA_domain_(dynein-related_subfamily)(100%),ATP-binding_dynein_motor_region_D5(100%),Dynein_heavy_chain__N-terminal_region_1(100%),Dynein_heavy_chain__N-terminal_region_2(100%),Dynein_heavy_chain_and_region_D6_of_dynein_motor(100%),Hydrolytic_ATP_binding_site_of_dynein_motor_region_D1(100%),Microtubule-binding_stalk_of_dynein_motor(100%),P-loop_containing_dynein_motor_region_D3(100%),P-loop_containing_dynein_motor_region_D4(100%)| . . ENSG00000105877.18 . ENST00000409508.8 . downstream upstream duplicates(6) ^(GTCCCAGGCCTTCGCTTCGGCCTGCGAGGCTACAGCTGTGCGCAGTGGCGCGGCTGCTAAGTAGCAGCAGGTGGGAGACTAGGGTCTGCGCTCGCGGCGACCGCGGAGGAGGGTGGGCGCCTGCGGAGGTGTCCTCGCTCACTTCGGGGGGCCCAGAGTCTCGGGTGAGGAGCCAGCCGGCCTCGCGTTCCCTCGGACGGTTGCCCAATGGCAGCCCAGGTGGCAGCCCGGGAGGCGCGAGACTTCAGAGAAGCCCCGACCCTTCGCCTAACCTCGGGGGCCGGCCTGGAGGCAGTGGGCGCTGTGGAGCTCGAGGAGGAGGAGGAGAACGAGGAGGAGGCGGCGGCCAGGAGAGCGCGGAGTTTCGCCCAAGACGCGCGGGTGCGCTTCCTCGGCGGCCGCCTGGCGATGATGCTGGGGTTCACGGAGGAGAAATGGAGCCAGTATTTGGAAAGCGAGGACAACCGGCAGGTTCTTGGGGAGTTTCTGGAAAGCACCAGCCCGGCTTGCCTTGTGTTTAGCTTCGCCGCCTCGGGGCGCCTTGCGGCTTCCCAGGAG___ATTCCAAGAGATGCAAACCATAAACTTGTTTTTATTTCCAAGAAGATTACTGAAAGCATTGGAGTAAATGACTTTTCTCAAGTGGTTTTATTTGGAGAGTTACCTGCGTTGTCTCTTGGACATGTATCTGCTTTCCTTGATGAG___ATTTTAGTGCCAGTTCTTTCTAATAAGAACAACCATAAGTCCTGGTCCTGTTTTACTTCACAAGATATGGAATATCACATAGAAGTCATGAAAAAGAAGATGTATATTTTTAGGGGCAAAATGTCTAGAAGAACTCTTCTACCAATTCCCACTGTTGCAGGAAAGATGGATCTGGATCAGAATTGTTCAGAGAACAA___GCCACCGTCAAACGAAAGGATAATACTTCATGCAATTGAATCTGTGGTTATTGAATGGTCACATCAAATCCAAGAAATTATAGAAAGAGATTCAGTGCAGCGTTTGTTGAATGGTCTTCACTTGTCTCCTCAAGCAGAACTAGATTTCTGGATGATGAGGAGAGAAAATCTGTCATGCATTTATGATCAA___CTTCAGGCACCTGTTGTCCTCAAAATGGTTAAGATCCTGACAACTAAACAAAGCAGCTATTTTCCTACTCTGAAGGACATTTTTCTGGCTGTGGAAAATG___CTCTTCTCGAAGCCCAAGATGTGGAACTTTACCTGAGACCTCTGAGGAGACACATCCAGTGTCTCCAGGAGACGGAATTCCCACAGACACGCATATTAATCGCTCCATTATTTCATACCATCTGTCTGATCTGGAGTCATTCCAAGTTTTATAACACCCCAGCTCGGGTTATAGTTTTATTGCAAGAGTTTTGTAATCTCTTCATTAACCAG___GCAACAGCTTACCTTTCACCTGAGGACCTTTTGAGGGGAGAAATAGAAGAGTCACTGGAAAAGGTGCAGGTGGCTGTTAACATCTTAAAGACTTTCAAAAACTCCTTTTTCAACTATAGAAAAAAATTGGCAAGCTACTTTATGGGAAGAAAGCTGAGACCATGGGATTTCCAGTCTCATCTGGTGTTTTGCAGATTTGACAAGTTTCTTGATCGTTTAATAAAAATAGAG___GATATATTTGCCACCACTTTGGAATTTGAAAAGCTGGAAAGACTGGAATTTGGTGGTACCAAAGGAGCAATTTTAAATGGACAAGTCCACGAGATGAGTGAAGAACTTATGGAACTCTGTAAACTTTTTAAACAGAGCACTTATGACCCATCTGATTGCACTAACATG___GAGTTTGAAAGTGATTATGTGGCATTTAAGTCCAAAACTCTGGAATTTGACAGAAGGCTTGGGACAATTATTTGTGAAGCTTTCTTTAACTGCAATGGCTTAGAAGCTGCATTTAAG___CTTTTGACCATATTTGGAAATTTTCTAGAGAAGCCAGTTGTCATGGAAATTTTCAGCCTACATTACAGCACACTAGTGCATATGTTTAATACAGAGCTGGATGTGTGTAAGCAACTGTATAATGAACACATGAAACAG___ATTGAATGTGGTCATGTAGTTCTTAACAAGAACATGCCATTTACCTCAGGAAATATGAAATGGGCCCAGCAGGTTCTCCAACGACTTCAAATGTTTTGGTCAAACTTCGCATCTCTCCGTTATCT___ATTTTTGGGCAATCCTGATCACGCTTTAGTTTATCAAAAGTATGTTGAAATGACCACTTTGCTTGATCAATTTGAAAGTCGTATCTATAATGAATGGAAAAGTAATGTGGATGAAATCTGTGAATTCAATTTGAATCAACCCTTGGTTAAATTCAGTGCCATAAATGGTCTTCTCTGTGTCAATTTTGACCCAAAG___CTAGTGGCTGTATTGAGAGAAGTGAAATATCTTTTGATGTTGAAGAAACAAGACATACCAGATTCAGCTTTAGCCATCTTCAAGAAAAGGAACACTATTTTAAAG___TACATTGGAAATCTTGACCTTCTTGTGCAAGGGTATAATAAACTCAAACAGACGCTCCTGGAAGTTGAATACCCTCTGATTGAAGATGAGCTGAGGGCTATTGACGAGCAGCTGACAGCAGCCACAACGTGGCTGACATGGCAGGATGACTGCTGGGGCTACATCGAGAGGGTGAGGGCAGCCACGTCCGAGTTGGAGCACAGAGTTGAGCGCACACAGAAAAACGTGAAGGTGATCCAGCAGACCATGAGGGGCTGGGCCAGGTGCGTGCTACCTCCCAGGAGAGAGCACAGACGAGAGGCAGCCTTCACCTTGGAGGACAAGGGTGATTTGTTTACAAAAAAATACAAGTTAATCCAAGGAGATGGCTGCAAGATCCACAACTTGGTCGAG___GAAAATAGGAAGCTCTTCAAAGCCAATCCCTCTCTGGATACCTGGAAAATTTATGTAGAATTCATTGACGACATTGTGGTGGAAGGCTTTTTTCAGGCTATAATGCACGACTTAGACTTCTTTCTGAAGAATACAGAGAAACAATTGAAACCGGCACCGTTTTTTCAAGCACAAATGATCTTGTTGCCTCCTGAGATTGTGTTTAAACCTTCCCTAGACAGAGAGGCTGGGGATGGCTTCTATGATCTTGTAGAAGAAATGTTATGCAATAGTTTTAGAATGTCTGCCCAGATGAACCGAATAGCAACACACCTGGAAATTAAAAATTATCAG___AATGATATGGATAACATGTTAGGCCTGGCAGAGGTCAGGCAGGAGATCATGAACAGAGTGGTGAATGTCATCAACAAAGTCTTAGATTTCAGAAACACCCTGGAGACCCACACTTACCTCTGGGTGGATGATCGAGCTGAGTTTATGAAGCATTTTCTCTTGTATGGCCATGCTGTGTCTTCCGATGAAATGGATGCTCATGCAAATGAAGAAATTCCCGAACAACCACCAACTCTTGAGCAATTCAAAGAACAG___ATTGACATTTATGAAGCTTTGTATGTTCAAATGAGCAAATTTGAGGACTTTAGAGTGTTTGATAGTTGGTTCAAGGTGGACATGAAGCCTTTCAAAGTGAGCTTGTTAACCATAATTAAGAAATGGAGCTGGATGTTTCAGGAGCATCTTTTGAGATTTGTCATTGACAG___TCTGAATGAGCTACAAGAATTTATAAAGGAGACAGATTCCGGACTTCAGAGAGAATTAAATGAAGGTGATCATGATGGTTTAGTTGACATCATGGTGCATCTTCTGGCTGTAAGAAGCCGACAGAGAGCTACTGATGAACTCTTTGAACCTCTAAAAGAAACGATCACCCTCTTGGAAAGCTATGGCCAGAAGATGCCTGAGCAGGTCTATATTCAGCTAGAG___GAATTACCTGAAAGATGGGAAACTACCAAAAAGATCGCAGCAACTGTCAGACATGAAGTCTCACCTCTCCATAATGCGGAAGTCACTCTTATAAGGAAAAAATGTATTTTGTTTGAC___GCAAAGCAGGCAGAGTTCAGAGAGAGATTCAGACACTATGCCCCTCTTGGATTTAATGCAGAAAATCCATACACAGCGCTTGATAAG___GCAAATGAAGAGCTTGAGGCCTTAGAAGAAGAAATGTTGCAGATGCAAGAATCTACTCGTCTTTTTGAAGTGGCTCTTCCAGAGTACAAACAAATGAAACAGTGTCGCAAAGAAATAAAATTGCTCAAGGGACTGTGGGATGTCATTATTTATGTTCGA___AGAAGCATTGATAATTGGACTAAAACCCAGTGGAGACAGATTCATGTGGAACAGATGGATGTAGAACTCAGAAGGTTTGCCAAG___GAAATTTGGTCACTCAACAAGGAAGTCCGCGTCTGGGATGCTTACACGGGCCTGGAAGGCACAGTTAAGGACATGACAGCCTCCCTGAGGGCCATCACAGAGTTACAGAGCCCTGCCCTCAGGGACAGGCATTGGCACCAGCTGATGAAAGCTATTGGG___GTCAAGTTTTTAATAAATGAAGCCACAACTTTGGCAGATTTGTTAGCACTGCGGTTACACAGAGTGGAAGATGATGTCCGAAGGATTGTGGACAAGGCGGTGAAAGAGCTGGGGACTGAGAAG___GTTATTACTGAAATCAGTCAGACCTGGGCAACCATGAAGTTTTCTTACGAAGTTCACTATCGAACAGGCATTCCATTACTAAAGTCTGATGAACAACTTTTTGAAACTCTAGAGCACAACCAA___GTTCAGTTGCAGACTCTTCTTCAAAGCAAGTATGTAGAATATTTCATTGAGCAAGTGTTAAGCTGGCAAAATAAATTAAACATAGCAGACTTGGTCATCTTCACTTGGATGGAAGTCCAGCGAACTTGGTCTCACCTGGAAAGCATTTTTGTCTGTTCAGAAGATATTCGAATCCAGCTTGTGAAAGATGCTAGAAGATTTGATGGGGTGGATGCTGAATTTAAG___GAGTTAATGTTCAAGACAGCCAAAGTAGAAAATGTGTTAGAAGCAACGTGCAGACCTAATCTCTATGAAAAACTTAAAGATTTACAGTCCAG___GCTTTCTCTTTGTGAAAAAGCTCTCGCTGAATACCTGGAAACCAAGCGCATAGCCTTTCCTCGCTTCTATTTCGTCTCTTCTGCTGATTTACTTGACATTCTCTCAAAAGGAGCTCAGCCTAAACAG___GTAACATGTCACCTTGCCAAACTTTTCGACAGCATTGCAGATCTGCAGTTTGAAGACAATCAGGATGTTTCTGCACACAGGGCAGTTGGAATGTACAGCAAAGAAAAGGAGTATGTCCCATTCCAAGCCGAGTGTGAATGTGTGGGCCAT___GTGGAAACATGGCTTCTGCAACTTGAACAGACTATGCAAGAAACGGTGCGTCATTCTATAACAGAAGCCATAGTGGCCTACGAGGAAAAACCTAGGGAACTGTGGATTTTTGATTTCCCAGCTCAGGTTGCACTAACCAGCTCACAAATATGGTGGACCACAGATGTAGGAATAGCCTTCAGTAGACTGGAAGAAGGCTACGAAACAGCCCTGAAGGATTTCCATAAAAAACAG___ATTTCTCAGCTGAATACACTGATTACACTTTTGCTGGGAGAACTTCCACCTGGAGACAGACAGAAGATCATGACAATTTGTACCATAGATGTCCATGCCAGAGACGTGGTGGCAAAACTTATTTCTCAGAAG___GTTGTCAGTCCCCAAGCTTTTACATGGCTGTCTCAACTTCGTCACCGATGGGAGGATACCCAGAAACACTGCTTTGTTAATATTTGTGATGCCCAGTTCCAGTACTTCTATGAATACTTAGGAAACAGCCCTCGACTAGTGATCACTCCTCTAACTGACAG___GTGTTATATTACCTTAACTCAATCACTTCATCTAACCATGAGTGGGGCTCCTGCTGGCCCAGCTGGTACCGGGAAAACAGAGACCACCAAAGACCTAGGACGTGCCCTTGGCATGATGGTCTATGTATTCAACTGTTCAGAGCAAATGGACTACAAA___TCCATAGGCAATATCTATAAGGGATTGGTGCAGACAGGAGCTTGGGGCTGCTTTGATGAGTTCAACCGAATCTCTGTGGAAGTTCTGTCAGTGGTGGCAGTACAAGTGAAAATGATTCATGATGCCATCAGAAACAGGAAGAAGAG___ATTTGTATTTCTTGGGGAAGCTATCACACTGAAGCCATCAGTTGGAATATTTATTACTATGAACCCGGGTTATGCTGGTCGAACCGAATTACCGGAAAATCTCAAAGCTCTTTTCAG___ACCCTGTGCCATGGTGGCCCCTGACATTGAGCTAATCTGTGAAATCTTGTTAGTTGCTGAAGGTTTTGTGGATGCGCGTGCATTAGCCCGAAAGTTCATTACGTTGTACACGCTTTGCAAGGAGCTTCTCTCCAAGCAG___GATCATTACGACTGGGGACTTCGTGCTATTAAGTCTGTCTTGGTTGTGGCTGGATCTCTGAAACGAGGAGATAAAAATAGACCCGAAGATCAG___GTACTCATGAGAGCATTAAGGGATTTCAATATGCCCAAAATAGTGACTGACGACATCCCAGTGTTTCTGGGCCTGGTCGGTGACCTGTTTCCAGCCCTGGATGTGCCCCGGAGGAGGAAGCTGCACTTTGAACAGATGGTCAGGCAGTCTACCCTGGAGCTCCGCCTGCAGCCTGAAGAGAGCTTCATCCTCAAA___GTTGTCCAGCTTGAGGAACTGTTGGCTGTGCGGCACTCGGTCTTTGTAGTTGGAAATGCAGGCACAGGAAAGAGTAAG___ATTTTGAGAACACTGAACCGAACATATGTTAACATGAAACAGAAGCCGGTTTGGAATGACTTAAACCCTAAAGCTGTGACAACAGATGAACTCTTTGGTTTCATACATCATGCTACCCGAGAATGGAAAGATGGCAA___GATTGTTTACTCTTATTTTATAGGTCTCTTCTCATCCATTCTACGAGAACAAGCAAATCTTAAGCATGATGGACCAAAATGGATAGTCCTGGATGGCGATATTGACCCCATGTGGATTGAATCACTGAATACTGTAATGGATGATAACAAG___GTGCTGACCCTCGCCAGCAATGAGCGCATTGCACTCACTCCCTTCATGAGGCTTCTGTTTGAGATACATCACTTAAGGAGCGCAACCCCGGCCACTGTTTCCAGAGCTGGTATTCTGTATGTGAACCCACAAGATCTGGGCTGGAATCC___GTATGTGGCCAGTTGGATAGACAGAAGGCGGCATCAATCAGAAAAGGCCAATTTGACTATTCTTTTTGATAAATATGTCCCTGCATGCTTGGATAAACTGAGAACAAGCTTTAAAACCATCACTTCAATTCCTGAGAGTAGCCTGGTGCAG___ACTCTATGTGTTCTTTTGGAGTGCTTGCTGACTCCTGAAAATGTACCTTCTGACAGCCCAAAAGAAGTTTATGAAGTCTATTTTGTATTTGCTTGTATCTGGGCTTTTGGAGGCACCCTGCTACAAGATCAG___ATTTCTGATTATCAAGCTGACTTCAGTCGGTGGTGGCAGAAAGAGATGAAAGCAGTGAAATTTCCGTCGCAGGGAACAATCTTTGATTATTATGTGGACCACAAAACTAAGAAATTATTGCCCTGGGCTGACAAAATTGCCCAGTTTACTATGGATCCAGATGTGCCTCTGCAG___ACAGTTCTCGTTCACACAACAGAGACAGCTCGTCTTAGATATTTCATGGAGTTGTTGCTTGAGAAAGGAAAACCTCTAATGCTAGTAGGAAATGCAGGAGTGGGAAAAACAGTCTTTGTAGGTGACACATTGGCAAGTCTCTCTGAGGATTACATAGTATCCCGTGTGCCTTTCAACTACTACACGACATCCACAGCTCTGCAAA___AAATTCTTGAGAAACCCCTAGAGAAAAAAGCTGGTCATAACTATGGTCCTGGAGGAAATAAAAAATTGATTTATTTTATCGACGACATGAACATGCCTGAAGTGGACTTATATGGCACCGTTCAGCCTCACACCCTGATCCGGCAGCATATTGATTATGGACATTG___GTATGATAGACAGAAGGTGATGCTTAAAGAAATCCATAACTGCCAGTATGTCGCCTGCATGAATCCGATGGTGGGCAGCTTCACCATCAATCCCAGGCTACAG___AGACATTTCACAGTGTTTGCATTCAATTTTCCATCTTTGGATGCACTAAACACCATCTATGGCCAAATCTTTAGCTTCCATTTCCAACAGCAAGCATTTGCTCCATCAATTCTCAGGAGTGGCCCCACTTTGATCCAGGCAACAATAGCATTCCATCAGACAATGATGTGTAACTTTTTACCCACGGCTATTAAATTCCACTACATCTTTAATCTGAGAGATTTATCAAACGTCTTCCAG___GGGATTTTATTTGCTTCTCCTGAGTGTTTAAAAGGTCCACTTGATTTAATACATCTGTGGCTTCATGAATCTGCCCGTGTTTATGGAGACAAACTGATAGACAAAAAAGATTGTGATTTGTTTCAGAGAAGAATGCTGGAAACTGCTTATAAATATTTTGAA___GGTATAGATAGTCACATGCTGCTTCAACAGCCCCTCATTTATTGCCACTTTGCTGATAGAGGGAAGGACCCACATTACATGCCAGTGAAGGACTGGGAAGTGCTGAAGACGATTCTTACAGAAACGTTAGACAACTACAATGAACTAAATGCTGCCATGCACCTAGTTTTGTTTGAAGATGCCATGCAACATGT___GTGTCGCATCAGCCGGATCTTACGAACCCCTCAGGGCTGTGCTCTCTTGGTTGGAGTTGGGGGCAGTGGCAAGCAGAGCTTGTCCAGGCTGGCAGCTTACCTTCGTGGCCTTGAGGTCTTTCAGATCACTCTGACCGAGGGCTATGGAATCCAGGAACTTCGG___GTAGATCTTGCCAATTTGTACATCCGAACTGGAGCCAAGAACATGCCCACTGTGTTCCTGCTGACAGATGCCCAGGTTCTAGATGAGAGCTTCCTCGTGCTGATTAATGACTTGCTGGCATCAG___GAGAAATCCCAGATCTGTTCAGCGATGAAGATGTGGACAAGATAATTTCTGGAATTCATAATGAAGTTCATGCTCTGGGCATGGTAGACTCCAGGGAAAACTGTTGGAAATTCTTTATGGCCAGGGTGCGACTACAGCTCAAA___ATCATTTTGTGTTTCTCTCCAGTTGGTCGCACGCTGAGAGTTAGAGCTCGGAAGTTCCCAGCCATAGTTAACTGCACGGCTATTGACTGGTTTCATGCGTGGCCGCAGGAGGCTCTGGTCTCCGTCAGCAGGAGGTTCATTGAGGAAACCAAGGGAATTGAG___CCAGTGCACAAAGACTCTATTAGCCTTTTCATGGCACATGTTCACACCACTGTAAATGAAATGAGTACCAGATATTACCAGAATGAGAGAAGACACAACTATACCACCCCAAAGAGTTTTCTAGAACAAATATCACTGTTTAAGAACCTGTTGAAGAAGAAGCAAAATGAGGTATCCGAGAAAAAAGAACGCCTGGTGAACGGCATCCAAAAGCTAAAAACCACAGCCTCTCAG___GTGGGAGATCTAAAAGCCAGACTTGCCTCTCAAGAAGCCGAGCTGCAACTGAGAAATCATGATGCCGAAGCTCTGATCACAAAGATCGGCCTTCAGACGGAGAAAGTGAGCCGGGAAAAGACCATCGCTGATGCTGAGGAGCGAAAG___GTGACAGCCATTCAGACTGAAGTGTTCCAGAAACAGAGAGAATGTGAAGCTGACTTACTCAAGGCTGAGCCTGCACTGGTGGCTGCTACAGCTGCACTCAATACACTCAACAGG___GTCAACCTCAGTGAGCTGAAAGCCTTTCCCAACCCTCCCATCGCAGTTACCAATGTTACTGCAGCCGTGATGGTCCTTCTGGCTCCTCGGGGAAGAGTGCCCAAAGACCGAAGTTGGAAAGCAGCTAAAGTCTTCATGGGAAAG___GTTGATGATTTTTTGCAAGCATTAATTAACTATGACAAAGAGCACATTCCAGAGAACTGTCTAAAAGTGGTGAATGAACACTATTTGAAAGACCCAGAGTTTAATCCAAACCTGATTCGAACCAAATCTTTTGCAGCAGCTGGCCTGTGTGCCTGGGTCATCAACATCATTAAATTCTATGAG___GTCTACTGTGATGTGGAGCCAAAACGCCAAGCATTAGCCCAAGCAAACTTAGAACTGGCTGCAGCTACTGAAAAACTAGAGGCTATCAGGAAAAAGCTTGTG___GATCTGGATCGAAATCTGAGCAGACTCACGGCTTCATTTGAAAAAGCAACAGCTGAGAAAGTCCGGTGTCAAGAAGAGGTGAACCAAACCAACAAAACCATCAAATTAGCTAACAGACTTGTCAAGGAACTTGAGGCAA___AGAAGATTCGCTGGGGTCAATCCATTAAGTCCTTTGAAGCTCAAGAGAAGACACTCTGTGGAGATGTTCTTCTCACGGCGGCATTTGTGTCTTACGTCGGACCCTTCACAAGGCAGTATCGCCAGGAGCTGGTGCACTGCAAGTGGGTTCCCTTTCTTCAACAGAAG___GTTTCCATTCCACTAACCGAAGGCCTGGACTTGATATCCATGTTGACGGATGATGCTACAATTGCCGCCTGGAATAACGAAGGACTGCCCAGTGACAGAATGTCCACCGAAAATGCCGCTATCCTAACACACTGTGAGCGCTGGCCTCTGGTGATAGATCCCCAGCAACAGGGAATTAAGTGGATCAAGAATAAGTATGGAATGGACCTGAAAGTCACACATTTGGGCCAGAAAGG___GTTTTTGAATGCCATTGAAACTGCTTTGGCCTTTGGTGATGTCATCTTAATTGAAAATCTCGAGGAAACGATAGATCCAGTCCTGGATCCACTACTTGGCAGGAACACAATTAAAAAAGGAAA___GTATATCAGGATTGGAGATAAAGAATGTGAATTTAACAAGAACTTTCGCCTTATCCTTCACACAAAATTGGCAAATCCTCACTATAAGCCGGAATTACAAGCTCAGACAACTCTCCTCAATTTCACAGTCACAGAAGATGGTCTAGAAGCCCAGCTGCTGGCAGAGGTTGTCAGTATTGAAAGGCCAGATTTGGAGAAACTTAAG___TTGGTATTGACAAAGCACCAAAATGATTTTAAAATTGAGCTCAAGTATCTGGAAGACGATCTCCTTTTGCGCCTTTCTGCGGCAGAGGGAAGCTTTCTGGATGACACCAAACTGGTAGAGAGATTGGAGGCAACAAAGACCACCGTGGCAGAGATAGAGCACAAG___GTGATTGAAGCCAAAGAAAATGAAAGAAAAATCAACGAGGCCCGAGAATGTTACAGACCAGTGGCAGCAAGAGCATCTCTTCTTTATTTTGTTATTAATGACCTCCAAAAAATCAACCCCCTCTACCAATTCTCTTTGAAG___GCTTTTAACGTGCTGTTCCACAGAGCGATCGAGCAGGCTGACAAGGTGGAAGACATGCAGGGACGCATCTCTATCCTGATGGAGAGCATCACCCATGCTGTCTTCCTCTACACCAGCCAGGCGCTGTTTGAGAAGGACAAGCTCACCTTCCTGTCCCAGATGGCTTTTCAG___ATTTTGTTGAGAAAGAAAGAGATAGACCCTCTTGAATTGGATTTCCTGCTTCGATTCACAGTTGAACACACTCATCTGAGTCCCGTTGACTTCCTAACTTCTCAGTCATGGAGTGCTATCAAG___GCAATTGCCGTCATGGAAGAATTTCGAGGCATAGACCGAGATGTGGAAGGATCTGCCAAGCAGTGGAGGAAGTGGGTAGAATCCGAGTGTCCAGAAAAAGAAAAATTACCTCAAGAATGGAAGAAGAAAAGTTTAATACAGAAGCTGATTCTTCTGAGAGCAATGCGCCCTGACAGAATGACGTATGCTCTCAG___AAATTTTGTAGAGGAAAAACTGGGTGCGAAGTATGTGGAGAGGACCAGATTGGACTTAGTTAAAGCATTCGAAGAAAGCAGCCCAGCCACCCCCATATTCTTCATCCTGTCTCCGGGGGTAGATGCCCTTAAAGACCTGGAGATTCTTG___GCAAAAGACTTGGCTTTACAATTGACTCTGGAAAATTCCACAATGTGTCTTTAGGACAAGGTCAGGAGACGGTGGCAGAAGTGGCCCTGGAGAAAGCTTCCAAAGGAGGACACTGGGTCATCCTCCAA___AATGTTCATTTGGTAGCCAAGTGGCTAGGAACCTTGGAGAAGCTCCTTGAAAGATTCAGCCAAGGAAGCCACAGAGATTACAGGGTTTTCATGAGTGCTGAGTCTGCACCTACACCAGATGAGCATATCATCCCTCAAGGACTCCTGGAAAATTCCATTAAGATCACTAATGAACCCCCAACAGGGATGCTGGCCAATTTGCATGCCGCCCTGTACAACTTTGATCAG___GATACACTTGAAATATGCTCCAAGGAGCAGGAGTTTAAAAGCATCCTTTTTTCTCTCTGCTACTTCCACGC)CTGTGTTGCTGGGAGACTGAGGTTTGGCCCCCAGGGCTGGAGCCGAAGCTATCCTTTTAATCCTGGAGACCTCACCATTTGTGCCAGTGTCCTCTACAACTACTTAGAGGCAAACTCTAAA___GTCCCATGGGAAGATCTCCGTTATCTCTTTGGTGAGATCATGTATGGAGGCCACATCACAGATGACTGGGATCGCAAACTGTGTCGGGTGTATTTAGAAGAATTCgTGAATCCATCTCTG|GGCTGACGCTTACCATAAATGTCGTGTTTCTCCCTGCAAGCCGCTCTGAATGATTTTAGCGTGTTGAGAAGGCGTGACAGGCCAGCCCAGAAGGAGGAAGGGGTGGG MAAQVAAREARDFREAPTLRLTSGAGLEAVGAVELEEEEENEEEAAARRARSFAQDARVRFLGGRLAMMLGFTEEKWSQYLESEDNRQVLGEFLESTSPACLVFSFAASGRLAASQEIPRDANHKLVFISKKITESIGVNDFSQVVLFGELPALSLGHVSAFLDEILVPVLSNKNNHKSWSCFTSQDMEYHIEVMKKKMYIFRGKMSRRTLLPIPTVAGKMDLDQNCSENKPPSNERIILHAIESVVIEWSHQIQEIIERDSVQRLLNGLHLSPQAELDFWMMRRENLSCIYDQLQAPVVLKMVKILTTKQSSYFPTLKDIFLAVENALLEAQDVELYLRPLRRHIQCLQETEFPQTRILIAPLFHTICLIWSHSKFYNTPARVIVLLQEFCNLFINQATAYLSPEDLLRGEIEESLEKVQVAVNILKTFKNSFFNYRKKLASYFMGRKLRPWDFQSHLVFCRFDKFLDRLIKIEDIFATTLEFEKLERLEFGGTKGAILNGQVHEMSEELMELCKLFKQSTYDPSDCTNMEFESDYVAFKSKTLEFDRRLGTIICEAFFNCNGLEAAFKLLTIFGNFLEKPVVMEIFSLHYSTLVHMFNTELDVCKQLYNEHMKQIECGHVVLNKNMPFTSGNMKWAQQVLQRLQMFWSNFASLRYLFLGNPDHALVYQKYVEMTTLLDQFESRIYNEWKSNVDEICEFNLNQPLVKFSAINGLLCVNFDPKLVAVLREVKYLLMLKKQDIPDSALAIFKKRNTILKYIGNLDLLVQGYNKLKQTLLEVEYPLIEDELRAIDEQLTAATTWLTWQDDCWGYIERVRAATSELEHRVERTQKNVKVIQQTMRGWARCVLPPRREHRREAAFTLEDKGDLFTKKYKLIQGDGCKIHNLVEENRKLFKANPSLDTWKIYVEFIDDIVVEGFFQAIMHDLDFFLKNTEKQLKPAPFFQAQMILLPPEIVFKPSLDREAGDGFYDLVEEMLCNSFRMSAQMNRIATHLEIKNYQNDMDNMLGLAEVRQEIMNRVVNVINKVLDFRNTLETHTYLWVDDRAEFMKHFLLYGHAVSSDEMDAHANEEIPEQPPTLEQFKEQIDIYEALYVQMSKFEDFRVFDSWFKVDMKPFKVSLLTIIKKWSWMFQEHLLRFVIDSLNELQEFIKETDSGLQRELNEGDHDGLVDIMVHLLAVRSRQRATDELFEPLKETITLLESYGQKMPEQVYIQLEELPERWETTKKIAATVRHEVSPLHNAEVTLIRKKCILFDAKQAEFRERFRHYAPLGFNAENPYTALDKANEELEALEEEMLQMQESTRLFEVALPEYKQMKQCRKEIKLLKGLWDVIIYVRRSIDNWTKTQWRQIHVEQMDVELRRFAKEIWSLNKEVRVWDAYTGLEGTVKDMTASLRAITELQSPALRDRHWHQLMKAIGVKFLINEATTLADLLALRLHRVEDDVRRIVDKAVKELGTEKVITEISQTWATMKFSYEVHYRTGIPLLKSDEQLFETLEHNQVQLQTLLQSKYVEYFIEQVLSWQNKLNIADLVIFTWMEVQRTWSHLESIFVCSEDIRIQLVKDARRFDGVDAEFKELMFKTAKVENVLEATCRPNLYEKLKDLQSRLSLCEKALAEYLETKRIAFPRFYFVSSADLLDILSKGAQPKQVTCHLAKLFDSIADLQFEDNQDVSAHRAVGMYSKEKEYVPFQAECECVGHVETWLLQLEQTMQETVRHSITEAIVAYEEKPRELWIFDFPAQVALTSSQIWWTTDVGIAFSRLEEGYETALKDFHKKQISQLNTLITLLLGELPPGDRQKIMTICTIDVHARDVVAKLISQKVVSPQAFTWLSQLRHRWEDTQKHCFVNICDAQFQYFYEYLGNSPRLVITPLTDRCYITLTQSLHLTMSGAPAGPAGTGKTETTKDLGRALGMMVYVFNCSEQMDYKSIGNIYKGLVQTGAWGCFDEFNRISVEVLSVVAVQVKMIHDAIRNRKKRFVFLGEAITLKPSVGIFITMNPGYAGRTELPENLKALFRPCAMVAPDIELICEILLVAEGFVDARALARKFITLYTLCKELLSKQDHYDWGLRAIKSVLVVAGSLKRGDKNRPEDQVLMRALRDFNMPKIVTDDIPVFLGLVGDLFPALDVPRRRKLHFEQMVRQSTLELRLQPEESFILKVVQLEELLAVRHSVFVVGNAGTGKSKILRTLNRTYVNMKQKPVWNDLNPKAVTTDELFGFIHHATREWKDGKIVYSYFIGLFSSILREQANLKHDGPKWIVLDGDIDPMWIESLNTVMDDNKVLTLASNERIALTPFMRLLFEIHHLRSATPATVSRAGILYVNPQDLGWNPYVASWIDRRRHQSEKANLTILFDKYVPACLDKLRTSFKTITSIPESSLVQTLCVLLECLLTPENVPSDSPKEVYEVYFVFACIWAFGGTLLQDQISDYQADFSRWWQKEMKAVKFPSQGTIFDYYVDHKTKKLLPWADKIAQFTMDPDVPLQTVLVHTTETARLRYFMELLLEKGKPLMLVGNAGVGKTVFVGDTLASLSEDYIVSRVPFNYYTTSTALQKILEKPLEKKAGHNYGPGGNKKLIYFIDDMNMPEVDLYGTVQPHTLIRQHIDYGHWYDRQKVMLKEIHNCQYVACMNPMVGSFTINPRLQRHFTVFAFNFPSLDALNTIYGQIFSFHFQQQAFAPSILRSGPTLIQATIAFHQTMMCNFLPTAIKFHYIFNLRDLSNVFQGILFASPECLKGPLDLIHLWLHESARVYGDKLIDKKDCDLFQRRMLETAYKYFEGIDSHMLLQQPLIYCHFADRGKDPHYMPVKDWEVLKTILTETLDNYNELNAAMHLVLFEDAMQHVCRISRILRTPQGCALLVGVGGSGKQSLSRLAAYLRGLEVFQITLTEGYGIQELRVDLANLYIRTGAKNMPTVFLLTDAQVLDESFLVLINDLLASGEIPDLFSDEDVDKIISGIHNEVHALGMVDSRENCWKFFMARVRLQLKIILCFSPVGRTLRVRARKFPAIVNCTAIDWFHAWPQEALVSVSRRFIEETKGIEPVHKDSISLFMAHVHTTVNEMSTRYYQNERRHNYTTPKSFLEQISLFKNLLKKKQNEVSEKKERLVNGIQKLKTTASQVGDLKARLASQEAELQLRNHDAEALITKIGLQTEKVSREKTIADAEERKVTAIQTEVFQKQRECEADLLKAEPALVAATAALNTLNRVNLSELKAFPNPPIAVTNVTAAVMVLLAPRGRVPKDRSWKAAKVFMGKVDDFLQALINYDKEHIPENCLKVVNEHYLKDPEFNPNLIRTKSFAAAGLCAWVINIIKFYEVYCDVEPKRQALAQANLELAAATEKLEAIRKKLVDLDRNLSRLTASFEKATAEKVRCQEEVNQTNKTIKLANRLVKELEAKKIRWGQSIKSFEAQEKTLCGDVLLTAAFVSYVGPFTRQYRQELVHCKWVPFLQQKVSIPLTEGLDLISMLTDDATIAAWNNEGLPSDRMSTENAAILTHCERWPLVIDPQQQGIKWIKNKYGMDLKVTHLGQKGFLNAIETALAFGDVILIENLEETIDPVLDPLLGRNTIKKGKYIRIGDKECEFNKNFRLILHTKLANPHYKPELQAQTTLLNFTVTEDGLEAQLLAEVVSIERPDLEKLKLVLTKHQNDFKIELKYLEDDLLLRLSAAEGSFLDDTKLVERLEATKTTVAEIEHKVIEAKENERKINEARECYRPVAARASLLYFVINDLQKINPLYQFSLKAFNVLFHRAIEQADKVEDMQGRISILMESITHAVFLYTSQALFEKDKLTFLSQMAFQILLRKKEIDPLELDFLLRFTVEHTHLSPVDFLTSQSWSAIKAIAVMEEFRGIDRDVEGSAKQWRKWVESECPEKEKLPQEWKKKSLIQKLILLRAMRPDRMTYALRNFVEEKLGAKYVERTRLDLVKAFEESSPATPIFFILSPGVDALKDLEILGKRLGFTIDSGKFHNVSLGQGQETVAEVALEKASKGGHWVILQNVHLVAKWLGTLEKLLERFSQGSHRDYRVFMSAESAPTPDEHIIPQGLLENSIKITNEPPTGMLANLHAALYNFDQDTLEICSKEQEFKSILFSLCYFHACVAGRLRFGPQGWSRSYPFNPGDLTICASVLYNYLEANSKVPWEDLRYLFGEIMYGGHITDDWDRKLCRVYLEEFvNPSL|g* 01BR044 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 2 0 75 58 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACT)CAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR044 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 2 8 0 33 26 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(6) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___)GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 01BR044 ENSG00000159110.20 ENSG00000142156.15(13222),ENSG00000224413.1(18782) +/+ ./+ chr21:33230216 chr21:46018270 5'UTR/splice-site intergenic deletion 1 6 0 28 12 high . . . . . ENSG00000159110.20 . ENST00000342136.9 . downstream upstream duplicates(1) ^(GTATCGCTCCTCGTAGGCCGGGGCTCGGCGCGCGCACCCGCACTAAAGACGCTTCTTCCCGGCGGGTAGGAATCCCGCCGGCGAGCCGAACAGTTCCCCGAGCGCAGCCCGCGGACCACCACCCGGCCGCACGGGCCGCTTTTGTCCCCCGCCCGCCGCTTCTGTC)CGAGAGGCCGCCCGCGAGGCGCATCCTGACCGCGAGCGTCGGGTCCCAGAGCCGGGCGCGGCTGGGGCCCGAGGCTAGCATCTCTCGGGAGCCGCAAGGCGAGAGCTGCAAAG|GTTTTAATGTGCCCTTTCTGAATCACTTTGTTGTGGATGAATTTCTTATTTACTTGGACTTTACTACATCTTTCAATAG___GAACAGAGACGATACCAACTTACAAGAAGTCTTTGGGCCCCTGCACTTCTACAAGAAGGAAGTAGATAAAACAACAACAAACCTCAGCTGCAAACACTGGTCATTTCTTATGAAAGATAAAAGATGACTCCGAGGGTCACAGAAG . 01BR044 ENSG00000249624.9 ENSG00000142156.15(13222),ENSG00000224413.1(18782) +/+ ./+ chr21:33230216 chr21:46018270 5'UTR/splice-site intergenic deletion 1 6 0 28 12 high out-of-frame . . . . ENSG00000249624.9 . ENST00000646150.1 . downstream upstream duplicates(1) ^(GCCCCCGCGCCGGCGGCGGCGCGGCGCCCGCGCTTCCGTATCGCTCCTCGTAGGCCGGGGCTCGGCGCGCGCACCCGCACTAAAGACGCTTCTTCCCGGCGGGTAGGAATCCCGCCGGCGAGCCGAACAGTTCCCCGAGCGCAGCCCGCGGACCACCACCCGGCCGCACGGGCCGCTTTTGTCCCCCGCCCGCCGCTTCTGTC)CGAGAGGCCGCCCGCGAGGCGCATCCTGACCGCGAGCGTCGGGTCCCAGAGCCGGGCGCGGCTGGGGCCCGAGGCTAGCATCTCTCGGGAGCCGCAAGGCGAGAGCTGCAAAG|GTTTTAATGTGCCCTTTCTGAATCACTTTGTTGTGGATGAATTTCTTATTTACTTGGACTTTACTACATCTTTCAATAG___GAACAGAGACGATACCAACTTACAAGAAGTCTTTGGGCCCCTGCACTTCTACAAGAAGGAAGTAGATAAAACAACAACAAACCTCAGCTGCAAACACTGGTCATTTCTTATGAAAGATAAAAGATGACTCCGAGGGTCACAGAAG vlmcpf* 01BR044 ENSG00000148498.16 ENSG00000148481.14 -/- -/+ chr10:34269657 chr10:15797155 CDS/splice-site intron inversion/5'-5' 3 2 0 59 16 high out-of-frame . N-terminal_of_Par3_and_HAL_proteins(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%)| . . ENSG00000148498.16 ENSG00000148481.14 ENST00000346874.9 . upstream upstream mismappers(1) ^(ACACAGCCCCGGGCAGCCGCCGGCGAGCGCGCCGCGACGCCGAACAGGTGGCCGGAGGCTGCGGGCGCCGCGGCGGGGAGAGGCGAGGCAAGCCCCGGGCGAAGCGAGGCGAGGCGAGGGCGGCCGGGCCGGGCATGCGAGCTGAGCGGCCCCCCGGCGTCGCCGCCGCCTGCCCGCGCCCCTAGCCGCCCGCGCGCCCGAGTCCCCAGCGGCTCCTCCGCGCCCAGCGTCCTCGGTCCCGGCCTCGGCTGCTCCGGCTGCGCTCGGCGAGGGGCGCGGGCCCGCCCGCGGCGGCGGCGGCATGAAAGTGACCGTGTGCTTCGGACGGACCCGGGTGGTCGTGCCGTGCGGGGACGGCCACATGAAAGTTTTCAGCCTCATCCAGCAGGCGGTGACCCGCTACCGGAAGGCCATCGCCAAG___GATCCAAACTACTGGATACAGGTGCATCGCTTGGAACATGGAGATGGAGGAATACTAGACCTTGATGACATTCTTTGTGATGTAGCAGACGATAAAGACAGA___CTGGTAGCAGTGTTTGATGAGCAGGATCCACATCACGGAGGTGATGGCACCAGTGCCAGTTCCACGGGTACCCAGAGCCCAGAGATATTTGGTAGTGAGCTTGGCACCAACAATGTCTCAGCCTTTCAGCCTTACCAAGCAACAAGTGAAATTGAGGTCACACCTTCAGTCCTTCGAGCAA___ATATGCCTCTTCATGTTCGACGCAGTAGTGACCCAGCTCTAATTGGCCTCTCCACTTCTGTCAGTGATAGTAATTTTTCCTCTGAAGAGCCTTCAAGGAAAAATCCCACACGCTGGTCAACAACAGCTGGCTTCCTCAAGCAGAACACTGCTGGGAGTCCTAAAACCTGCGACAGGAAG___AAAGATGAAAACTACAGAAGCCTCCCGCGGGATACTAGTAACTGGTCTAACCAATTTCAGAGAGACAATGCTCGCTCGTCTCTGAGTGCCAGTCACCCAATGGTGGGCAAGTGGCTGGAGAAACAAGAACAG___GATGAGGATGGGACAGAAGAGGATAACAGTCGTGTTGAACCTGTTGGACATGCTGACACGGGTTTGGAGCATATACCCAACTTTTCTCTGGA___TGATATGGTAAAGCTCGTAGAAGTCCCCAACGATGGAGGGCCTCTGGGAATCCACGTAGTGCCTTTCAGTGCTCGAGGCGGCAG___AACCCTGGGGTTATTAGTAAAACGATTGGAGAAAGGTGGTAAAGCTGAACATGAAAATCTTTTTCGTGAGAATGATTGCATTGTCAGGATTAATGATGGCGACCTTCGAAATAGAAGATTTGAACA___AGCACAACATATGTTTCGCCAAGCCATGCGTACACCCATCATTTGGTTCCATGTGGTTCCTGCAGCAAATAAAGAGCAGTATGAACAACTATCCCAAAGTGAGAAGAACAATTACTATTCAAGCCGTTTTAGCCCTGACAGCCAGTATATTGACAACAGGAGTGTGAACAGTGCAGGGCTTCACACGGTGCAGAGAGCACCCCGACTGAACCACCCGCCTGAGCAGATAGACTCTCACTCAAGACTACCTCATAGCGCACACCCCTCGGGAAAACCACCATCCGCTCCAGCCTCGGCACCTCAGAATGTATTTAGTACGACTGTAAGCAGTGGTTATAACACCAAAAAAATAGGCAAGAGGCTTAATATCCAGCTTAAGAAAG___GTACAGAAGGTTTGGGATTCAGCATCACTTCCAGAGATGTAACAATAGGTGGCTCAGCTCCAATCTATGTGAAAAACATTCTCCCCCGGGGGGCGGCCATTCAGGATGGCCGACTTAAGGCAGGAGACAGACTTATAGAG___GTAAATGGAGTAGATTTAGTGGGCAAATCCCAAGAGGAAGTTGTTTCGCTGTTGAGAAGCACCAAGATGGAAGGAACTGTGAGCCTTCTGGTCTTTCGCCAGGAAGACGCCTTCCACCCAAGGGAACTG___AATGCAGAGCCAAGCCAGATGCAGATTCCAAAAGAAACG___AAAGCAGAAGATGAGGATATTGTTCTTACACCTGATGGCACCAGGGAATTTCTGACATTTGAAGTCCCACTTAATGATTCAGGATCTGCAGGCCTTGGTGTCAGTGTCAAAGGTAACCGGTCAAAAGAGAACCACGCAGATTTGGGAATCTTTGTCAAGTCCATTATTAATGGAGGAGCAGCATCTAAA___GATGGAAGGCTTCGGGTGAATGATCAACTGATAGCAGTAAATGGAGAATCCCTGTTGGGCAAGACAAACCAAGATGCCATGGAAACCCTAAGAAGGTCTATGTCTACTGAAGGCAATAAACGAGGAATGATCCAGCTTATTGTTGCAAGGAGAATAAGCAAGTGCAATGAG___CTGAAGTCACCTGGGAGCCCCCCTGGACCTGAGCTGCCCATTGAAACAGCGTTGGATGATAGAGAACGAAGAATTTCCCATTCCCTCTACAGTGGGATTGAGGGGCTTGATGAATCGCCCAGCAGAAATGCTGCCCTCAGTAGGATAATGGGTGAGTCAG___GTAAATACCAGCTGTCCCCTACAGTGAATATGCCCCAAGATGACACTGTCATTATAGAAGATGACAGGTTGCCAGTGCTTCCTCCACATCTCTCTGACCAGTCCTCTTCCAGCTCCCATGATGATGTGGGGTTTGTGACGGCAGATGCTGGTACTTGGGCCAAGGCTGCAATCAGTGATTCAGCCGACTG___CTCTTTGAGTCCAGATGTTGATCCAGTTCTTGCTTTTCAACGAGAAGGATTTGGACGTCAGAGTATGTCAGAAAAACGCACAAAGCAATTTTCAGATGCCAGTCAATTGGATTTCGTTAAAACACGAAAATCAAAAAGCATGGATTTAGGTA___TAGCTGACGAGACTAAACTCAATACAGTGGATGACCAGAAAGCAG___GTTCTCCCAGCAGAGATGTGGGTCCTTCCCTGGGTCTGAAGAAGTCAAGCTCGTTGGAGAGTCTGCAGACCGCAGTTGCCGAGGTGACTTTGAATGGGGATATTCCTTTCCATCGTCCACGGCCGCGGATAATCAGAGGCAGGGGATGCAATGAGAGCTTCAGAGCTGCCATCGACAAATCTTATGATAAACCCGCGGTAGATGATGATGATGAAGGCATGGAGACCT___TGGAAGAAGACACAGAAGAAAGTTCAAGATCAGGGAGAGAGTCTGTATCCACAGCCAGTGATCAGCCTTCCCACTCTCTGGAGAGACAAATGAATGGAAACCAAGAGAAAGGTGATAAGACTGATAGAAAAAAGGATAAAACTGGAAA)AGAAAAGAAGAAAGATAGAGATAAGGAGAAGGATAAAATGAAAGCCAAGAAGGGAATGCTGAAGGGCTTGGGAGACATGTTCAG___GATTCAAGCCAAAACTCGAGAATTTAGGGAACGACAAGCTCGAGAGCGTGACTATGCTGAAATTCAAGATTTTCATCGGACATTTGGCTGTGATGATGAGTTAATGTATGGGGGAGTTTCTTCTTATGAAGGTTCCATGGCTCTCAACGCTAGACCTCAGAGCCCACGAGAAGGGCATATGATGGATGCTTTGTATGCCCAAGTCAAGAAGCCGCGGAATTCCAAACCCTCACCTGTAGACAG|GTGAAGAAACTAAGAATCAGAGGAGTTCTAACTGAGCCATGAGGACTCGATTCCTGAAAACCTTATTTATAAAAAACAGGAATGGGAACTAAAACAAGGCAACCTGTGCAAGCCCTTACAAGTTTTTCATGTATTACAGTAAAAGGTAAAGCAACTTAAAAACC MKVTVCFGRTRVVVPCGDGHMKVFSLIQQAVTRYRKAIAKDPNYWIQVHRLEHGDGGILDLDDILCDVADDKDRLVAVFDEQDPHHGGDGTSASSTGTQSPEIFGSELGTNNVSAFQPYQATSEIEVTPSVLRANMPLHVRRSSDPALIGLSTSVSDSNFSSEEPSRKNPTRWSTTAGFLKQNTAGSPKTCDRKKDENYRSLPRDTSNWSNQFQRDNARSSLSASHPMVGKWLEKQEQDEDGTEEDNSRVEPVGHADTGLEHIPNFSLDDMVKLVEVPNDGGPLGIHVVPFSARGGRTLGLLVKRLEKGGKAEHENLFRENDCIVRINDGDLRNRRFEQAQHMFRQAMRTPIIWFHVVPAANKEQYEQLSQSEKNNYYSSRFSPDSQYIDNRSVNSAGLHTVQRAPRLNHPPEQIDSHSRLPHSAHPSGKPPSAPASAPQNVFSTTVSSGYNTKKIGKRLNIQLKKGTEGLGFSITSRDVTIGGSAPIYVKNILPRGAAIQDGRLKAGDRLIEVNGVDLVGKSQEEVVSLLRSTKMEGTVSLLVFRQEDAFHPRELNAEPSQMQIPKETKAEDEDIVLTPDGTREFLTFEVPLNDSGSAGLGVSVKGNRSKENHADLGIFVKSIINGGAASKDGRLRVNDQLIAVNGESLLGKTNQDAMETLRRSMSTEGNKRGMIQLIVARRISKCNELKSPGSPPGPELPIETALDDRERRISHSLYSGIEGLDESPSRNAALSRIMGESGKYQLSPTVNMPQDDTVIIEDDRLPVLPPHLSDQSSSSSHDDVGFVTADAGTWAKAAISDSADCSLSPDVDPVLAFQREGFGRQSMSEKRTKQFSDASQLDFVKTRKSKSMDLGIADETKLNTVDDQKAGSPSRDVGPSLGLKKSSSLESLQTAVAEVTLNGDIPFHRPRPRIIRGRGCNESFRAAIDKSYDKPAVDDDDEGMETLEEDTEESSRSGRESVSTASDQPSHSLERQMNGNQEKGDKTDRKKDKTGKEKKKDRDKEKDKMKAKKGMLKGLGDMFRIQAKTREFRERQARERDYAEIQDFHRTFGCDDELMYGGVSSYEGSMALNARPQSPREGHMMDALYAQVKKPRNSKPSPVDr|* 01BR044 ENSG00000081803.16 ENSG00000105877.18 -/- +/- chr7:122471375 chr7:21680328 CDS/splice-site intron deletion/5'-5' 2 1 0 12 4 high out-of-frame . PH_domain(100%)| . . ENSG00000081803.16 ENSG00000105877.18 ENST00000313070.11 . upstream downstream duplicates(2),mismatches(1) ^(ATTCAATTCCACGTGTTGCTTGTTGTAGGCGCCACAGGTTCCCCACCTGCGTCCGGGCGCTCGGGCGGCTCCGCCTCTGCCGGCGGGCTCTGGGGAACCGCTGGGTCGGCGCGCCCGGGGCTGGCGGAGCAATTCCTGAGGCGCCCAAGCTCACCCCCAACGCTAACTCCGCCTATTCAGTCCCGGCGGCTCCCCCTCTCCCCCCTCCCAATCCTCCTCCCGGCTCCTGCCCGCCCCTTTCGCCCTGGTGGTAGGAAACACTCCTGAATCTAACTCGACGTGTCCGGAAAGCCCTGGCCAGTTTTCCTTTCGTTCTGCGGCCGCTGCAGCCAGCCCCGCGGCTCCCTCAGACCCGCGGGCGCAGCCGCCGGGGGTGAGGCGCTTGGGGACCGCGGGCCGAGCGGCGGGGATCCCCGAGCACCATGCTGGACCCGTCTTCCAGCGAAGAGGAGTCGGACGAGGGGCTGGAAGAGGAAAGCCGCGATGTGCTGGTGGCAGCCGGCAGCTCGCAGCGAGCTCCTCCAGCCCCGACTCGGGAAGGGCGGCGGGACGCGCCGGGGCGCGCGGGCGGCGGCGGCGCGGCCAGATCTGTGAGCCCGAGCCCCTCTGTGCTCAGCGAGGGGCGAGACGAGCCCCAGCGGCAGCTGGACGATGAGCAGGAGCGGAGGATCCGCCTGCAGCTCTACGTCTTCGTCGTGAGGTGCATCGCGTACCCCTTCAACGCCAAGCAGCCCACCGACATGGCCCGGAGGCAGCAGAAG___CTTAACAAACAACAGTTGCAGTTACTGAAAGAACGGTTCCAGGCCTTCCTCAATGGGGAAACCCAAATTGTAGCTGACGAAGCATTTTGCAACGCAGTTCGGAGTTATTATGAG___GTTTTTCTAAAGAGTGACCGAGTGGCCAGAATGGTACAGAGTGGAGGGTGTTCTGCTAATGACTTCAGAGAAGTATTTAAGAAAAACATAGAAAAACGTGTGCGGAGTTTGCCAGAAATAGATGGCTTGAGCAAAGAGACAGTGTTGAGCTCATGGATAGCCAAATATGATGCCATTTACAGAGGTGAAGAGGACTTGTGCAAACAGCCAAATAGAATGGCCCTAAGTGCAGTGTCTGAACTTATTCTGAGCAAGGAACAACTCTATGAAATGTTTCAGCAGATTCTGGGTATTAAAAAACTGGAACACCAGCTCCTTTATAATGCATGTCAG___CTGGATAACGCAGATGAACAAGCAGCCCAGATCAGAAGGGAACTTGATGGCCGGCTGCAATTGGCAGATAAAATGGCAAAG___GAAAGAAAATTCCCCAAATTTATAGCAAAAGATATGGAGAATATGTATATAGAAGAGTTGCGGTCTTCAGTGAATTTGCTAATGGCCAATTTGGAAAGTCTTCCAGTTTCGAAAGGTGGTCCGGAATTTAAATTACAAAAATTAAAACGTTCACAGAACTCTGCATTTTTGGACATAGGAGATGAGAATGAGATTCAGCTGTCAAAGTCCGACGTGGTACTGTCATTCACCTTAGAG___ATTGTCATAATGGAAGTGCAAGGCCTGAAGTCAGTTGCTCCCAATCGAATTGTTTACTGTACAATGGAAGTGGAAGGAGAAAAACTTCAGACAGACCAGGCCGAAGCCTCAAGGCCACA___ATGGGGGACTCAAGGAGATTTCACCACCACCCATCCTCGGCCTGTGGTCAAAGTGAAACTCTTCACAGAAAGCACTGGAGTTCTGGCCCTGGAAGATAAAGAACTGGGAAGG___GTGATATTATACCCAACTTCTAATAGCTCCAAATCAGCTGAATTACACCGAATGGTAGTTCCAAAAAATAGCCAGGATTCTGACTTAAAAATCAAACTGGCAGTGCGAATGGATAAACCAGCACATATGAAGCATAGTGG___ATATCTGTATGCCCTTGGACAGAAGGTTTGGAAAAGATGGAAAAAACGTTACTTTGTTCTAGTTCAG___GTTAGCCAATATACCTTTGCTATGTGCAGTTATAGAGAAAAGAAGTCTGAACCACAAGAATTAATGCAGCTTGAAGGCTATACTGTGGATTATACCGATCCCCACCCAG___GCCTTCAGGGTGGTTGTATGTTCTTTAATGCTGTTAAAGAAGGAGATACTGTAATCTTTGCCAGTGATGATGAACAGGACAGAATATTATGGGTTCAAGCCATGTATAGGGCCACAGGTCAATCATATAAACCAGTTCCTGCAATTCAAACCCAGAAACTGAATCCTAAAGGAGGAACTCTCCATGCAGATGCTCAGCTTT___CTGGTAAAG___ATGCAGATCGTTTTCAGAAACATGGTATGGATGAGTTTATTTCTGCAAACCCCTGCAAGCTTGATCATGCCTTCCTTTTT)AGAATAaaCCAGAGGCAaACTaTGGATCACAGACTGAATGATTCCTATTCTTGaTTG___GGATGGTTTAGCCCTGGCCAAGTCTTTGTGTTAGATGAGTACTGTGCCCGTTATGGTGTGAGAGGCTGTCACAGACATCTCTGCTACCTTGCAGAACTGATGGAACATTCAGAAAATGGTGCTGTCATTGACCCTACCCTGCTCCATTACAGCTTTGCATTCTGTGCCTCTCATGTGCACGGCAACAG|CTCTGCAAAAGGACAGTCAATGACAAACTGCTAGCACCTAAGAAAGCTGGTGGTAAGTGAATATGACAGATCACCAGAGACTCAAACCTTTGTAGCCTACTGTCAAAATACAGGTCCACTACTGTACTATTATCATGCCCCGGAAAATGCGAAACCCT MARRQQKLNKQQLQLLKERFQAFLNGETQIVADEAFCNAVRSYYEVFLKSDRVARMVQSGGCSANDFREVFKKNIEKRVRSLPEIDGLSKETVLSSWIAKYDAIYRGEEDLCKQPNRMALSAVSELILSKEQLYEMFQQILGIKKLEHQLLYNACQLDNADEQAAQIRRELDGRLQLADKMAKERKFPKFIAKDMENMYIEELRSSVNLLMANLESLPVSKGGPEFKLQKLKRSQNSAFLDIGDENEIQLSKSDVVLSFTLEIVIMEVQGLKSVAPNRIVYCTMEVEGEKLQTDQAEASRPQWGTQGDFTTTHPRPVVKVKLFTESTGVLALEDKELGRVILYPTSNSSKSAELHRMVVPKNSQDSDLKIKLAVRMDKPAHMKHSGYLYALGQKVWKRWKKRYFVLVQVSQYTFAMCSYREKKSEPQELMQLEGYTVDYTDPHPGLQGGCMFFNAVKEGDTVIFASDDEQDRILWVQAMYRATGQSYKPVPAIQTQKLNPKGGTLHADAQLSGKDADRFQKHGMDEFISANPCKLDHAFLFRInQRQTmDHRLNDSYS*LGWFSPGQVFVLDEYCARYGVRGCHRHLCYLAELMEHSENGAVIDPTLLHYSFAFCASHVHGNs|sakgqsmtnc* 01BR044 ENSG00000234352.9 ENSG00000226066.1(131639),ENSG00000231244.1(93915) -/- ./- chr7:137032794 chr7:136619956 exon/splice-site intergenic deletion 1 1 0 26 28 high . . . . . ENSG00000234352.9 . ENST00000439694.5 . upstream downstream . ^(ACGGTGCGCGCACCCACTGACCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCCGTCTTCTGCGTTGCTCACGCTGGGAGCTGTGGACCAGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCG___GGTGTTGGT)GTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAAGACTGGCTCACTGCAACCTCCACCTCCTGGGATCAAGCGATCCTCCCATCTCATCCTCCAGGAGCTGGGACTAAAG|GTCAGTTTCCCTGCACATGCTCTCTTGCCTGCCACCATGAAGACGTGACTTTGCTCCTCCTTCACCTTCTGTCACGATTGTGAGGCCTCCCCAGCCATGTGGAACT___GAGGCTGGATTTTAGGCTATACCATGACTTTGCAAGAGATCACTGCATTTTAAC . 01BR044 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 6 4 0 12 528 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream . ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCA)AGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGG(GACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 01BR044 ENSG00000207304.1 ENSG00000115839.18 -/- +/+ chr11:93732257 chr2:135137348 exon intron translocation 6 1 0 1366 137 medium . . . . . ENSG00000207304.1 ENSG00000115839.18 ENST00000384574.1 . upstream upstream duplicates(4) ^TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCATCGTTGGTTTTCTTGGCTTTGTGCTTGTTAAACCTGGTATTTCTACTGATACAGTATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCAC|CTACAGTAAAAAGGACCCTAAAGTAAATTGGTTGAAGAAaTTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCATATTAAAAcGAGATGACAGAAGCCAAAgTAA . 01BR044 ENSG00000207304.1 ENSG00000121988.18 -/- -/+ chr11:93732257 chr2:135137348 exon intron translocation/5'-5' 6 1 0 1366 137 medium . . . . . ENSG00000207304.1 ENSG00000121988.18 ENST00000384574.1 . upstream upstream duplicates(4) ^TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCATCGTTGGTTTTCTTGGCTTTGTGCTTGTTAAACCTGGTATTTCTACTGATACAGTATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCAC|CTACAGTAAAAAGGACCCTAAAGTAAATTGGTTGAAGAAaTTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCATATTAAAAcGAGATGACAGAAGCCAAAgTAA . 01BR044 ENSG00000229309.2(27649),ENSG00000214182.5(359855) ENSG00000286746.1 ./- -/- chr13:81330056 chr13:80819003 intergenic exon/splice-site deletion 2 0 0 44 7 medium . . . . . . ENSG00000286746.1 . ENST00000665186.1 upstream downstream duplicates(4) CACTCACCGCGAGGGGCGTGGCTTCATGCTTGAAGTCAGTGAGACCAAGAACCCACCAATTCcGGACACATTATGACCTcTGTTTCCTGCCATGGAAGAAAATTTAAATTCCCAGGCTGAAGAAGCAAATTAGGCCTCTCAAGCAGAAACCAACAG___...CAGTGTATCACAAACTCATGAAAAATTTCATAGATGTCTCAGAAGAAGCAGTGAAAAATATTGGTTCTGAGAAGCAATCATCAGCCA|ATTCCTAAGGTGGAAGCTGTGGTCATTCATTCGAG(ACACTTATGTAGACATAAAAACAGGCCTTTAGTGCTACAAATTTCCCTCTAATACCAA___CTGCGTTCGGACCCCTGTCGGATAGGAAATCCCAAGTAAGGTACCTGCCATCGGCAGATTTGAGCTTTCTTCTTGGACACCTGATACCCACAGTCCTCCAG___GCTCCGGTAGATTGCAAATAACCTGCTTTCTTTCTGTTCCCGGGCTGCCTTCGGAACCCTGTGGGAGAGTAAATCCCTAGTAAGGTACCTGCCGTTGACAGATTTGAGCTTTCTTCTTGGACACCTAATACCCACAGTCCTCCAG___GTGTGAAAGAAATACTCAAGTGACTGTGTTGCTGGTGGGAAAAAGCGTATCATTTCCTGGGGTCTTCAGGGTACAGTTGTGCTCAAAATTAAACACTTCTAGGGATTATGCTGTGACCCTTTTAATATGTGCTTTTAATTTTTTTCATTTCTTAATACTCTTTTTTCTATACTCAATGGTGCAAGCTTCTGGTTTTCTACTGGCTCCTTATTTAAGAATGTGAAAACATCCAGATATTTGAGAGGGTAGAAGTGGAAATTAGGAATGCCTAAACAAACTCTAAAAGAAGAATTTTAGCAGTATTAATTTATTGGCTTTATCAATTAATTGGTATTATGGCTACTATCCTAACTACTTGAATCCCTACTTGGTCAATAACAAATATTATGAAAATATCTAAGCTTTTCTTCTGGCCTATAAAATTTAAAAAATTAGCAAAACATATCACGTTGAAGACATTCATTTTTCACAGAGAGCAGTGAAGGCATTTCTCTATTTCCTTTCCCCCATCCTACCCTAGGATTGCTCTGCAGTATTCATGTGTTAGTATAGGTCAACAAAAAGCAC)$ . 01BR044 ENSG00000236744.2 ENSG00000236958.1(297529),ENSG00000236744.2(81104) -/- ./- chr10:55575650 chr10:55166651 exon/splice-site intergenic deletion 1 1 0 13 14 medium . . . . . ENSG00000236744.2 . ENST00000457975.2 . upstream downstream duplicates(1) ^(ATTGATTGTTATGCCCTTCAAGCATGAATGAATTAGCACCTTATGGTTGGGTATGTTGACTCAGAATATTCAAGATAAGTCCAGCCA)CAATCGATTCCGCAGGGATCAGGCTCCCGCCATG___AAAATGACAATAGCATCTTGGAGAGGAATGCACTGCGGACATGCACATTTGACAACTAAATA|GAAAATGGAAACATCATTCCCTAGAAACAGTTGAAGTTGACAGACCTAGAGGTTGACAAAAGGACACGACAC . 01BR001 ENSG00000137962.13 ENSG00000204279.7 -/- -/- chr1:94231407 chrX:55258528 CDS/splice-site CDS/splice-site translocation 59 3 1 271 35 high in-frame . . . . ENSG00000137962.13 ENSG00000204279.7 ENST00000260526.11 ENST00000374951.5 upstream downstream duplicates(7) ^(AGTGGTGGTGGTGCCTGTGGCTGTGGCTGCGGCTGCGGCTGCGGCTGAGATTTGGCCGGGCGTCCGCAGGCCGTGGGGGATGGGGGCAGCGAGCTCCAGCCCTCGGCGGTGGCGGCGGCCGTAGGTGTGGGGCGGGCGTCCGCGTCCGGCACGCGAGATGGAGCGCC)GTG___GATTTCAGTTTTTCTGACTGTTACATGAAAGGATGATTGCTCACAAACAGAAAAAGACAAAGAAAAAACGTGCTTGGGCATCAGGTCAACTCTCTACTGATATTACAACTTCTGAAATGGGGCTCAAGTCCTTAAGTTCCAACTCTATTTTTGATCCGGATTACATCAAGGAGTTGGTGAATGATATCAGGAAGTTCTCCCACATGTTACTATATTTGAAAGAAGCCATATTTTCAG|GTGAAGGGCAACCATCGGTTTAAATGAAGACAAGCTGAAACCATACATGCAGTCTTTATGTTGGAAACTTCACCAGTAAAATTCTCTCAATAAAGTTTCACAATTGTCTGCAAAGAA$ MIAHKQKKTKKKRAWASGQLSTDITTSEMGLKSLSSNSIFDPDYIKELVNDIRKFSHMLLYLKEAIFS|gEGQPSV* 01BR001 ENSG00000166145.14 ENSG00000104129.10 +/+ -/+ chr15:40854689 chr15:40790853 CDS/splice-site intron duplication/5'-5' 8 19 0 299 38 high out-of-frame . Kunitz/Bovine_pancreatic_trypsin_inhibitor_domain(100%),Low-density_lipoprotein_receptor_domain_class_A(100%),MANEC_domain(100%)| . . ENSG00000166145.14 ENSG00000104129.10 ENST00000562057.5 . downstream upstream . ^(ATGTCGGCCCCGCCCCGACGGCGCTGACTCAGTTTCACCAGAAACCAGGGGGAGAAGGCGGCCGAGCCCCAGCTCTCCGAGCACCGGGTCGGAAGCCGCGACCCGAGCCGCGCAGGAAGCTGGGACCGGAACCTCGGCGGACCCGGCCCCACCCAACTCACCTGCGCAG___GTCACCAGCACCCTCGGAACCCAGAGGCCCGCGCTCTGAAGGTGACCCCCCTGGGGAGGAAGGCGATGGCCCCTGCGAGGACGATGGCCCGCGCCCGCCTCGCCCCGGCCGGCATCCCTGCCGTCGCCTTGTGGCTTCTGTGCACGCTCGGCCTCCAGGGCACCCAGGCCGGGCCACCGCCCGCGCCCCCTGGGCTGCCCGCGGGAGCCGACTGCCTGAACAGCTTTACCGCCGGGGTGCCTGGCTTCGTGCTGGACACCAACGCCTCGGTCAGCAACGGAGCTACCTTCCTGGAGTCCCCCACCGTGCGCCGGGGCTGGGACTGCGTGCGCGCCTGCTGCACCACCCAGAACTGCAACTTGGCGCTAGTGGAGCTGCAGCCCGACCGCGGGGAGGACGCCATCGCCGCCTGCTTCCTCATCAACTGCCTCTACGAGCAGAACTTCGTGTGCAAGTTCGCGCCCAGGGAGGGCTTCATCAACTACCTCACGAGGGAAGTGTACCGCTCCTACCGCCAGCTGCGGACCCAGGGCTTTGGAG___GGTCTGGGATCCCCAAGGCCTGGGCAGGCATAGACTTGAAGGTACAACCCCAGGAACCCCTGGTGCTGAAGGATGTGGAAAACACAGATTGGCGCCTACTGCGGGGTGACACGGATGTCAGGGTAGAG___AGGAAAGACCCAAACCAGGTGGAACTGTGGGGACTCAAGGAAGGCACCTACCTGTTCCAGCTGACAGTGACTAGCTCAGACCACCCAGAGGACACGGCCAACGTCACAGTCACTGTGCTGTCCACCAAGCAGACAGAAG___ACTACTGCCTCGCATCCAACAAGGTGGGTCGCTGCCGGGGCTCTTTCCCACGCTGGTACTATGACCCCACGGAGCAGATCTGCAAGAGTTTCGTTTATGGAGGCTGCTTGGGCAACAAGAACAACTACCTTCGGGAAGAAGAGTGCATTCTAGCCTGTCGGGGTGTGCAAG___GCCCCTCCATGGAAAGGCGCCATCCAG___TGTGCTCTGGCACCTGTCAGCCCACCCAGTTCCGCTGCAGCAATGGCTGCTGCAT)CGACAGTTTCCTGGAGTGTGACGACACCCCCAACTGCCCCGACGCCTCCGACGAGGCTGCCTGTGAAAAAT___ACACGAGTGGCTTTGACGAGCTCCAGCGCATCCATTTCCCCAGTGACAAAG|GCACCTAAGTAACTTCAAAAATCCAGAGCTTCAGCCAGACAGCTTTGGTGAAGAGTGATACTGAGGGGACTTGGAGATACTGAGAGGACTTAGAGACCAGCTGCTAGATCCACCCAGAGCTGGTCAGGCCCTTGGTGAAGAACAACTATCTTCAAGTGAAACCAGGCTTGGAAAAAATAACTTAAAATAAATAAAAAAAAATAGGCCGG MAPARTMARARLAPAGIPAVALWLLCTLGLQGTQAGPPPAPPGLPAGADCLNSFTAGVPGFVLDTNASVSNGATFLESPTVRRGWDCVRACCTTQNCNLALVELQPDRGEDAIAACFLINCLYEQNFVCKFAPREGFINYLTREVYRSYRQLRTQGFGGSGIPKAWAGIDLKVQPQEPLVLKDVENTDWRLLRGDTDVRVERKDPNQVELWGLKEGTYLFQLTVTSSDHPEDTANVTVTVLSTKQTEDYCLASNKVGRCRGSFPRWYYDPTEQICKSFVYGGCLGNKNNYLREEECILACRGVQGPSMERRHPVCSGTCQPTQFRCSNGCCIDSFLECDDTPNCPDASDEAACEKYTSGFDELQRIHFPSDK|gt* 01BR001 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 5 10 0 55 41 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCA)GACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGAT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR001 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 7 4 0 10 14 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream . CATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___...GCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AG?GCGTACTGCGG?CAGTGC?GCGAGAGGATA(TGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR001 ENSG00000136141.15 ENSG00000123200.16 +/+ -/+ chr13:46711844 chr13:45963447 CDS/splice-site 3'UTR duplication/5'-5' 2 6 0 40 20 high out-of-frame . Leucine_rich_repeat(100%)| . . ENSG00000136141.15 ENSG00000123200.16 ENST00000311191.10 . downstream upstream duplicates(1) ^(CCGCAGTCCTTAGCTTCCCGGGGACAGGAAACCTTCAAGACCGAGCTGCCACGGCCGCCTCCCCGCCCGCCCCCCATTCTACGCGCCTGCCCACACCCTCCTCCCCTCCTTCCAGCGCCTTTCGGTGGAGCACTGCGGCACTCAGCCCGAGCTGCCGTTTTCCCCTCGCGGGGAACGCTGTGACCCCCCCGCAGGAGCGGCGGGGCGGGGTGGGGGGGCCCGGGAGAAGATGGCGACGCCGGGAAGCGAACCCCAACCTTTCGTCCCGGCCCTTTCGGTAGCTACTCTGCACCCACTTCATCATCCCCACCACCACCACCACCACCATCAGCACCACGGAGGAACCGGCGCCCCCGGCGGGGCGGGTGGTGGCGGCGGTGGCAGCGGGGGCTTCAACCTGCCCTTGAACCGGGGTCTGGAGCGCGCGCTTGAGGAGGCGGCCAACTCCGGGGGGCTGAACCTGAGCGCCAGGAAATTGAAGGAATTTCCCCGTACCGCAGCCCCCGGGCACGACCTCTCGGACACGGTGCAGGCAG___ACTTATCTAAAAACAGACTGGTTGAAGTTCCAATGGAATTGTGCCATTTTGTATCACTGGAAATTCTTAATCTGTATCACAACTGTATCAGAGTCATTCCTGAGGCCATCGTTAATCTGCAGATGCTGACTTACCTGAACTTGAG___TCGAAATCAGCTGTCCGCCCTGCCTGCCTGCCTGTGTGGTCTGCCTCTCAAAGTCTTAATCGCAAGTAACAACAAACTTGGATCATTACCAGAAGAGATAGGTCAGCTCAAACAGTTAATGGAGCTG___GATGTCAGCTGCAACGAGATCACAGCGTTGCCCCAGCAGATAGGTCAGTTGAAATCTCTACGAGAACTGAATGTCAGAAGAAATTACCTTAAAGTTTTACCACAAG___AACTAGTAGATCTTTCCTTGGTAAAGTTTGACTTTTCCTGCAACAAAGTGCTCGTGATTCCAATTTGTTTTAGAGAGATGAAGCAGCTGCAAGTGTTACTACTTGAGAATAACCCTCTGCAGTCTCCTCCAGCACAG___ATTTGCACAAAGGGCAAAGTTCACATATTTAAGTATCTGAGCATACAAGCATGCCAGATTAAGACAGCTGACTCCCTTTATCTCCACACCATGGAGAGGCCACATTTACACCAGCACGTGGAAGATGG___CAAGAAGGATTCTGATTCGGGAGTTGGAAGTGATAATGGAGATAAGCGATTATCTGCCACCGAG___CCTTCTGACGAAGACACTGTTAGCCTCAATGTGCCAATGTCAAACATCATGGAAGAAGAACAGATCATCAAGGAGGACTCGTGCCATCGCCTTAGCCCCGTTAAAG___GGGAATTTCATCAGGAATTTCAACCGGAGCCTTCCCTTTTGGGTGACAGCACCAACTCAGGAGAAGAAAGAGACCAGTTTACTGATAGAGCAGATGGTCTCCATTCGGAATTTATGAACTATAAG___GCAAGGGCAGAAGACTGTGAAGAGCTGTTACGGATAGAAGAGGATGTGCACTGGCAAACTGAGGGCAT___AATAAGTTCATCCAAAGATCAGGACATGGATATAGCAATGATCGAGCAGCTGAGAGAAGCAGTAGATTTGCTGCAAGATCC)CAATGG___ATTAAGCACAGATATTACAGAGAGAAGTGTTTTAAACCTATATCCTATGGGATCAGCAGAAGCCTTAGAATTACAAGATTCTGCACTGAA___TGGTCAAATACAGCTGGAGACATCTCCGGTGTGTGAG___GTGCAAAGTGATCTAACATTACAGAGTAACGGGAGCCAGTATTCTCCAAATGAG|GGTCTTGCTCTGTCACCTAGGTTGGAGTGTGGTGGCTCAATCATGGCTCACTGCAGCCTCAATTTCCTGGGCTCCAGCAATCCTGCTGCCTCAACCTCCCTGAGTAGCTGTGACTACAGACATGCAACACCACGCCTGGCCTGTTAATAAGTAATTTTCA MATPGSEPQPFVPALSVATLHPLHHPHHHHHHHQHHGGTGAPGGAGGGGGGSGGFNLPLNRGLERALEEAANSGGLNLSARKLKEFPRTAAPGHDLSDTVQADLSKNRLVEVPMELCHFVSLEILNLYHNCIRVIPEAIVNLQMLTYLNLSRNQLSALPACLCGLPLKVLIASNNKLGSLPEEIGQLKQLMELDVSCNEITALPQQIGQLKSLRELNVRRNYLKVLPQELVDLSLVKFDFSCNKVLVIPICFREMKQLQVLLLENNPLQSPPAQICTKGKVHIFKYLSIQACQIKTADSLYLHTMERPHLHQHVEDGKKDSDSGVGSDNGDKRLSATEPSDEDTVSLNVPMSNIMEEEQIIKEDSCHRLSPVKGEFHQEFQPEPSLLGDSTNSGEERDQFTDRADGLHSEFMNYKARAEDCEELLRIEEDVHWQTEGIISSSKDQDMDIAMIEQLREAVDLLQDPNGLSTDITERSVLNLYPMGSAEALELQDSALNGQIQLETSPVCEVQSDLTLQSNGSQYSPNE|glalsprlecggsimahcslnflgssnpaastslsscdyrhatprlac* 01BR001 ENSG00000115524.17 ENSG00000162944.11 -/- -/- chr2:197398461 chr2:197596069 CDS/splice-site CDS/splice-site duplication 6 1 0 410 22 high in-frame . Splicing_factor_3B_subunit_1(100%)| . . ENSG00000115524.17 ENSG00000162944.11 ENST00000335508.11 ENST00000295049.9 upstream downstream . ^(AGTTCCGTCTGTGTGTTCGAGTGGACAAAATGGCGAAGATCGCCAAGACTCACGAAG___ATATTGAAGCACAGATTCGAGAAATTCAAGGCAAGAAGGCAGCTCTTGATGAAGCTCAAGGAGTGGGCCTCGATTCTACAGGTTATTATGACCAGGAAATTTATGGTGGAAGTGACAGCAGATTTGCTGGATACGTGACATCAATTGCTGCAACTGAACTTGAAGAT___GATGACGATGACTATTCATCATCTACGAGTTTGCTTGGTCAGAAGAAGCCAGGATATCATGCCCCTGTGGCATTGCTTAATGATATACCACAGTCAACAGAACAG___TATGATCCATTTGCTGAGCACAGACCTCCAAAGATTGCAGACCGGGAAGATGAATACAAAAAGCATAGGCGGACCATGATAATTTCCCCAGAGCGTCTTGATCCTTTTGCAGATG___GAGGGAAAACCCCTGATCCTAAAATGAATGCTAGGACTTACATGGATGTAATGCGAGAACAACACTTGACTAAAGAAGAA___CGAGAAATTAGGCAACAGCTAGCAGAAAAAGCTAAAGCTGGAGAACTAAAAGTCGTCAATGGAGCAGCAGCGTCCCAGCCTCCATCAAAACGAAAACGGCGTTGGGATCAAACAGCTGATCAGACTCCTGGTGCCACTCCCAAAAAACTATCAAGTTGGGATCAGGCAGAG___ACCCCTGGGCATACTCCTTCCTTAAGATGGGATGAGACACCAGGTCGTGCAAAGGGAAGCGAGACTCCTGGAGCAACCCCAGGCTCAAAAATATGGGATCCTACACCTAGCCACACACCAGCGGGAGCTGCTACTCCTGGACGAGGTGATACACCAGGCCATGCGACACCAGGCCATGGAGGCGCAACTTCCAGTGCTCGTAAAAACAGATGGGATGAAACCCCCAAAACAGAGAGAG___ATACTCCTGGGCATGGAAGTGGATGGGCTGAGACTCCTCGAACAGATCGAGGTGGAGATTCTATTGGTGAAACACCGACTCCTGGAGCCAGTAAAAGAAAATCACGGTGGGATGAAACACCAGCTAGTCAGATGGGTGGAAGCACTCCAGTTCTGACCCCTGGAAAGACACCAATTGGCACACCAGCCATGAACATGGCTACCCCTACTCCAG___GTCACATAATGAGTATGACTCCTGAACAGCTTCAGGCTTGGCGGTGGGAAAGAGAAATTGATGAGAGAAATCGCCCACTTTCTGATGAGGAATTAGATGCTATGTTCCCAGAAGGATATAAG___GTACTTCCTCCTCCAGCTGGTTATGTTCCTATTCGAACTCCAGCTCGAAAGCTGACAGCTACTCCAACACCTTTGGGTGGTATGACTGGTTTCCACATGCAAACTGAAGATCGAACTATGAAAAGTGTTAATGACCAGCCATCTGGAAATCTTCCATTTTTAAAACCTGATGATATTCAATACTTTGATAAACTATTG___GTTGATGTTGATGAATCAACACTTAGTCCAGAAGAGCAAAAAGAGAGAAAAATAATGAAGTTGCTTTTAAAAATTAAGAATGGAACACCACCAATGAGAAAG___GCTGCATTGCGTCAGATTACTGATAAAGCTCGTGAATTTGGAGCTGGTCCTTTGTTTAATCAGATTCTTCCTCTGCTGATGTCTCCTACACTTGAGGATCAAGAGCGTCATTTACTTGTGAAAGTTATTGATAGGATACTGTACAAACTTGATGACTTAGTTCGTCCATATGTGCATAAG___ATCCTCGTGGTCATTGAACCGCTATTGATTGATGAAGATTACTATGCTAGAGTGGAAGGCCGAGAGATCATTTCTAATTTGGCAAAG___GCTGCTGGTCTGGCTACTATGATCTCTACCATGAGACCTGATATAGATAACATGGATGAGTATGTCCGTAACACAACAGCTAGAGCTTTTGCTGTTGTAGCCTCTGCCCTGGGCATTCCTTCTTTATTGCCCTTCTTAAAAGCTGTGTGCAAAAGCAAGAAGTCCTGGCAAGCGAGACACACTGGTATTAAGATTGTACAACAGATAGCTATTCTTATGGGCTGTGCCATCTTGCCACATCTTAGAAGTTTAGTTGAAATCATTGAACATG___GTCTTGTGGATGAGCAGCAGAAAGTTCGGACCATCAGTGCTTTGGCCATTGCTGCCTTGGCTGAAGCAGCAACTCCTTATGGTATCGAATCTTTTGATTCTGTGTTAAAGCCTTTATGGAAGGGTATCCGCCAACACAGAGGAAAG___GGTTTGGCTGCTTTCTTGAAGGCTATTGGGTATCTTATTCCTCTTATGGATGCAGAATATGCCAACTACTATACTAGAGAAGTGATGTTAATCCTTATTCGAGAATTCCAGTCTCCTGATGAGGAAATGAAAAAAATTGTGCTGAAG___GTGGTAAAACAGTGTTGTGGGACAGATGGTGTAGAAGCAAACTACATTAAAACAGAGATTCTTCCTCCCTTTTTTAAACACTTCTGGCAGCACAGGATGGCTTTGGATAGAAGAAATTACCGACAG___TTAGTTGATACTACTGTGGAGTTGGCAAACAAAGTAGGTGCAGCAGAAATTATATCCAGGATTGTGGATGATCTGAAAGATGAAGCCGAACAGTACAGAAAAATGGTGATGGAGACAATTGAGAAAATTATGGGTAATTTGGGAGCAGCAGATATTGATCATAAACTTGAAGAACAACTGATTGATGGTATTCTTTATGCTTTCCAAGAACAGACTACAGAG___GACTCAGTAATGTTGAACGGCTTTGGCACAGTGGTTAATGCTCTTGGCAAACGAGTCAAACCATACTTGCCTCAGATCTGTGGTACAGTTTTGTGGCGTTTAAATAACAAATCTGCTAAAGTTAGGCAACAGGCAGCTGACTTGATTTCTCGAACTGCTGTTGTCATGAAGACTTGTCAAGAG___GAAAAATTGATGGGACACTTGGGTGTTGTATTGTATGAGTATTTGGGTGAAGAGTACCCTGAAGTATTGGGCAGCATTCTTGGAGCACTGAAGGCCATTGTAAATGTCATAG___GTATGCATAAGATGACTCCA)CCAATTAAAGATCTGCTGCCTAGACTCACCCCCATCTTAAAGAACAGACATGAAAAAGTACAAGAGAATTGTATTGATCTTGTTGGTCGTATTGCTGACAG|TGAAGGGAATTTGGCTACAAAGCAGATCGTATTCCTTCAGAGGCCAGTTATGTGGAATTCAGCTGCTCAAACACCAGAT(___AAGAAAGCCAGCCGCCACATAAAAGGTGAAGACAAGAATAAAGCCACTAGTAGAAGCATCGGATTAGACACAACCTCGTCACAACCTGCAGAGAGCAGACACCTGCCTGAGGAGTGCCGCCTTTCTCCCTCCCGGGAATGCTGGACAAAGGAGGGAAGGCTGGCACAGCACAACAGCTTCTCTGGGTTCAGCAGCAGTGACAACGTCCTCCGGGAATTAGACGACGGACAGTTTGATCAGGAAGATGGAGTGACTCAGGTCACTTGTATGTGAGCCATGAGGTGAAGCAAAGGAAGGCCCTGTAAATAATTGTTAAAATCATTGCCAACTGACCTTATTGTATTACTTTCTCTGCATTTATGTAATATTTTTGAATTTTTCCAGACCCAGCCTTTCCTCTAATCTATGTAAACTTTGGCACAACCTCCCAGACAAGGAAGAATAACCAACATATTTATACATTTAGAATCATGTTTACACTTCTCTCAACTAAAACATCTGGTTAAACAGATGTTCCATTCGGTTATTACACAATAATCTATTTCAGCTTCTCATGAATGTACAAAGTAGACTTTCTTACAATTCCTGGTAAGGAGACTGAATATCTCAATCAGTATTTTACCCAATTAGAGAGAGTTCTCAGGAAGTTACAGTCTTATTTAAGCTGAAAAATAACCTCTCTCTCTCTTTTTTTTTCTCTCTCTCTCATACACACACACAGCTAATTAGTGCAAATAAATATCTATTTCCCAAATATAATAATTAATCCACATTTTGTCTTTAACTATAGCATGTATATACAAAGCAAGCCCCTATGTGTTAAAATATTTTTTGAAAAAAATCTTTTTTATGTATCTTTGCTTTTAAAGGGTCATGTCACCAACCCTGTACTGATTCATTGTACATAAATGTTGTTGCTCCTAAAAGCCTAAAAATGCAGACAGCAAAGCAGCATCTCTTAAAATTCAATATGAAAAGAACCCATAATCTCAATACATAAATACCTTAGTAGAGAGTAAGATTTAATTTTTTTTTATTTTAAAGTCCAAATACTATGAAGAGGAAAAATATCAACTTCAATTTGAAACTGAAGTCTTTTACATCTGTCTAGATTTGAATTCTGCTTTTATTTTGACTTGTTAAATCCTGAAGAATGTTGAAACCTAGAATTTTCAATCTGGCAGGAGTAGAAAGATGCTCATAGCACACGCGATATGTATGATAACATATTTTGTTTCATCTTGCTTTTCTTTCCCCTTCTAATAGAGGTGGCTTTGCCTTGACCCAGCCTTTAACAATCTTTAAAATTCTACAAAATAAAGGATTTTCATTTATCTATGAAAGGCTTACTTTGAAAGATGGAACCTCCAAGTGAATTACAACTTATTCTATCATTGATGAATTCAGCCTATTATATATTTTTATTAACATTGATGTTGACATTGTAAGATCATTTTAATAATAAAACATCATTTTTATTGTGTTATTGTTTTATTGAACACAAATATTCATATAATATGTTTGGTTTGGGGGTTTTTTGTGGCTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCACAGTCGCAGCTCACTGCAACCTCCACCTCCTGGCTTCAAGCGATTCTCCTGCCTCAGCCTCCAGATTAGCTGGAACTACAGCCAGTGTGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGATCTGCCTGCCTTGTCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTCATATAATATGTTTTATACATATAACAGATATGTATTACATGTTATCAATTATATAGTGTATCTAAACTAAGTCAATCTCCATTAATTGCTGATAAAATTAACAGGAATTATTCCACTTTTATCATCCAGAAGTACAGTATAAAGGAATTTAAGAATATTCTTCTCAGTCTTATTCTATAGCAATAGCTGTCAACAATATTTGCAGAAATGGTTTTTGTTTTGACTTTTAGATGGACTTGAGTTCCATAATCAAGAGTTAGTGGATTTTTGGTAGAAACAATCACTGCTTCAGGAGTCCATAAAACGTAATGAAGTTAGGAAGCACAAAGAACAAATCAGAAAGATCTGTTTTTCCCAATTCCAGGGTCTACAAGAGGTAGAGACTTCTTTATCATTCAGCCCACATACATAGGGGATTGGAAGTAGTAAATTAAAAACAGAGATAGGAATTTATATTTGACTAAGAAAAAACTCAGAAATATAGCAATAACTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCACCCAGGCTGCAATCTCGGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGTGACTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGCCTGCACCACCATGCCTGGCTAAGTTTTGTAATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCACCCACCTTGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCCACTGCACCCAGCCAAGCAATCGCTTTTTTAAAAAATTTGTGTAAGCATACTTTCTCAGTTTATTTTTTTCTCCCCTCCCGTTTATTTTTAATCTGAGTTATTTCTTATTAAAATAACTTTTATTAAAATAAACTTACTAGTCTGTCATATCCTCAAAACTTGTTTTAGAAGCATTTGCTCCAACAATTACCCTTAAGTTATGTGATGAATTTGTATGATAGCGAATAATTTATGATCAAGTGGTTCTAGAGTATTTTAAATGTGTGTAAATAGCTATGAGCCTATTATTTTAAAAAAAGAAAAAAACTTGGGCTCTCTATGCCTAAGGAGTTAAATATGTCTAATTTTATTATCTGCCAGTTGTATATTCAGTTCTTTTTATAACACTATGATTTCCTTAGGGGCTCTGGCATGTGAATTTTTAAAACCTGTAAGTTATAATGAAAGGTATCAAGATCCCAGATGTTGGGTGAAGATCTGCCATTCCCCTTGGTGTAGTATCTATGGCATTTTCATCTTCGTTTTCAATACCAAGTGTTAATTCCATCCCCTTTGGATTGTATACCACCTTGTTATCTTTTATGGACACATTTAACACCTACCTAATCACCAGGGAAATCAGCTCTATCAGTGTCATTACAATTCATTTCAGTAAAAGAGAAAAGGAAAGGTCACCCTCTTTGAGAGATTCTAGGGCTTTCAGGAGGAGGAGAAGCAGGAGACAGAGCTACAGTCTATTCAAATCACAACTATCTCCAAATCATTTGTGTTATCAGGAGCAGGTGTTTATATATTTGAATATAAATGTAACAGATGCATTTTCATTTCTTTCATTCTGGAGTGCCAGAGGAGCTGTCCCGTTTTCCCGCCCTTGCCTGTTATTGATTCCTCACCACCATTCCTTCTTGGCTGGAAGGACTGTGGCCCTTTCCCTCCCCATATGGCTAAAGAGGATTTCTTTCTCTTAACTCTTCAGAGCCCCAGAGTAGTACTGTATGGAAAGTGTAAATTCAGATGGAGAATCAAATGAAGTGAAATTGCTAACAATGGGGATAGTATATAACTAAGAACACATTATATAAAAATGTACTAGTGGATACATAGAAAAACTAGCTAAATGTTACTCATCAGAACTTGTAACATATCAATTTAAATAACATTTGCTGGTAATCTATCATCCCTTGAGAATGAATTTTATTTGTGTAATAGTGCAAAGTTTGCAGAACCAGGTCTGTCAGATATTTAAGTTCTGAGATGGTGTTTGAGGCAGAAAATTAGGCAAAACTGTAAAATGATGAGCCTCAGTTTTGATGAGGTTCATAAAGTTTTGGTGAAGACGACTGCAAAAGAAATGGGTTCTAAACATGTTTTGAGCATTCAAATTTTTGTATGTAAAAATACCAAGTAATTAAATCAATGGAATAAATGAATCATTTATGTGTAAGATAAA)$ MAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDYSSSTSLLGQKKPGYHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEEREIRQQLAEKAKAGELKVVNGAAASQPPSKRKRRWDQTADQTPGATPKKLSSWDQAETPGHTPSLRWDETPGRAKGSETPGATPGSKIWDPTPSHTPAGAATPGRGDTPGHATPGHGGATSSARKNRWDETPKTERDTPGHGSGWAETPRTDRGGDSIGETPTPGASKRKSRWDETPASQMGGSTPVLTPGKTPIGTPAMNMATPTPGHIMSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPPAGYVPIRTPARKLTATPTPLGGMTGFHMQTEDRTMKSVNDQPSGNLPFLKPDDIQYFDKLLVDVDESTLSPEEQKERKIMKLLLKIKNGTPPMRKAALRQITDKAREFGAGPLFNQILPLLMSPTLEDQERHLLVKVIDRILYKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIISNLAKAAGLATMISTMRPDIDNMDEYVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQARHTGIKIVQQIAILMGCAILPHLRSLVEIIEHGLVDEQQKVRTISALAIAALAEAATPYGIESFDSVLKPLWKGIRQHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVMLILIREFQSPDEEMKKIVLKVVKQCCGTDGVEANYIKTEILPPFFKHFWQHRMALDRRNYRQLVDTTVELANKVGAAEIISRIVDDLKDEAEQYRKMVMETIEKIMGNLGAADIDHKLEEQLIDGILYAFQEQTTEDSVMLNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRTAVVMKTCQEEKLMGHLGVVLYEYLGEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRLTPILKNRHEKVQENCIDLVGRIADs|EGNLATKQIVFLQRPVMWNSAAQTPDKKASRHIKGEDKNKATSRSIGLDTTSSQPAESRHLPEECRLSPSRECWTKEGRLAQHNSFSGFSSSDNVLRELDDGQFDQEDGVTQVTCM* 01BR001 ENSG00000083307.12 ENSG00000104490.18 +/+ -/+ chr8:101577519 chr8:102066306 CDS/splice-site intron deletion/5'-5' 2 4 0 48 16 high out-of-frame . . . . ENSG00000083307.12 ENSG00000104490.18 ENST00000646743.1 . downstream upstream . ^(GAGAAAGTTACCTGTGGCCGCCCAAGTCCGCCACTTTCTGCTCTGTGTCTGCCCATTGCCACGATCCAGGAGGACTCCGCGCCGCCCGGCCGCCTCCGAGCTCGGGCCCCATGTGAGGGGCCCCCCCTTATCCCACCTTTCCGGCTAGGTGAGGGCGCGAGCGGGCGAGCGAGCGAGAGTGGTGAGGGGGGACGGAAAAGCAGAATTACCTGTAGCTCTTGTTCTGCCATCTCGGGCGCTCTCACACACCTTCACCTGCACAGACTTGAAAGTCCAGTTTCACCAGAGGCTGAGGCTCCAGGAAAAGCGGAGCAAGTTCATTGGATCAAACATGTCACAAGAGTCGGACAA___TAATAAAAGACTAGTGGCCTTAGTGCCCATGCCCAGTGACCCTCCATTCAATACCCGAAGAGCCTACACCAGTGAGGATGAAGCCTGGAAGTCATACTTGGAGAATCCCCTGACAGCAGCCACCAAGGCCATGATGAGCATTAATGGTGATGAGGACAGTGCTGCTGCCCTCGGCCTGCTCTATGACTACTACAAG___GTTCCTCGAGACAAGAGGCTGCTGTCTGTAAGCAAAGCAAGTGACAGCCAAGAAGACCAGGAGAAAAG___AAACTGCCTTGGCACCAGTGAAGCCCAGAGTAATTTGAGTGGAGGAGAAAACCGAGTGCAAGTCCTAAAGACTGTTCCAGTGAACCTTTCCCTAAATCAAGATCACCTGGAGAATTCCAAGCGGGAACAGTACAGCATCAGCTTCCCCGAGAGCTCTGCCATCATCCCGGTGTCGGGAATCACGGTGGTGAAAGCTGAAGATTTCACACCAGTTTTCATGGCCCCACCTGTGCACTATCCCCGGGGAGATGGGGAAGAGCAACGAGTGGTTATCTTTGAACAGACTCAGTATGACGTGCCCTCGCTGGCCACCCACAGCGCCTATCTCAAAGACGACCAGCGCAGCACTCCGGACAGCACATACAGCGAGAGCTTCAAGGACGCAGCCACAGAG___AAATTTCGGAGTGCTTCAGTTGGGGCTGAGGAGTACATGTATGATCAGACATCAAG___TGGCACATTTCAGTACACCCTGGAAGCCACCAAATCTCTCCGTCAGAAGCAGGGGGAGGGCCCCATGACCTACCTCAACAAAGGACAGTTCTATGCCATAACACTCAGCGAGACCGGAGACAACAAATGCTTCCGACACCCCATCAGCAAAGTCAGG___AGTGTGGTGATGGT)GGTCTTCAGTGAAGACAAAAACAGAGATGAACAGCTCAAATACTGGAAATACTGGCACTCTCGGCAGCATACGGCGAAGCAGAGGGTCCTTGACATTG|GATCTTATTCATTTGCTACCAGGATCAGCATACGCTTTTTACCCAAG___GGTTCAAAATACGGAGGCCGCATTGTGTCCATGGATGGGAGCATGGAAAGAAACCTTTAAAAGCTG MSQESDNNKRLVALVPMPSDPPFNTRRAYTSEDEAWKSYLENPLTAATKAMMSINGDEDSAAALGLLYDYYKVPRDKRLLSVSKASDSQEDQEKRNCLGTSEAQSNLSGGENRVQVLKTVPVNLSLNQDHLENSKREQYSISFPESSAIIPVSGITVVKAEDFTPVFMAPPVHYPRGDGEEQRVVIFEQTQYDVPSLATHSAYLKDDQRSTPDSTYSESFKDAATEKFRSASVGAEEYMYDQTSSGTFQYTLEATKSLRQKQGEGPMTYLNKGQFYAITLSETGDNKCFRHPISKVRSVVMVVFSEDKNRDEQLKYWKYWHSRQHTAKQRVLDI|gsysfatrisirflpkgskyggrivsmdgsmernl* 01BR001 ENSG00000238116.2(1013),ENSG00000275320.1(11792) ENSG00000164754.15 ./+ -/- chrX:100804073 chr8:116846471 intergenic 3'UTR translocation 11 8 0 92 479 medium . . . . . . ENSG00000164754.15 . ENST00000297338.7 downstream downstream duplicates(2) GTAAGTTTTAGTACTGATCTCCTTTTCCAGTGCTGCACACTCCTGTGTTTGGAACTTTAATAGCaTTGCAACGAAATCCTATATCC|AGTTTCCTGTAATTTAATTGAAGAAAAATACATCCAAATAAAGACTTTATTATTAACAGACCAGATAGCATCAGAAATCATGTGACTGTTATGATTATCAGA[at]ATGTCTTAACTTTTTAGGGCAAAGTTAACACTGAAAGTTCTAGCTTAAGTGTTGAAACTTTTGTGGGAAAAAAAA-TCACTTTTGAAACTCAGACTTCAGTGTATACCCAATAATTTAAAATTATGTGAAATGTTTTAAATTTGTG(AACTCGTAATTACTGTTTTAATGATTCAGTTTCTTCAGAGTGGTAATTGTATAAAATTGCTATTGCAGCTTTACATTCAATATGATGTGCCTGTAAACCAAGGAGTTTTCCCCGTTTGTAAAAAGACATTGTAGATAATTGAATGTTTGATTTTAGAAAGGTCATTAGTTTCTTGTTACACATTTTGTTAGTCTGGTTTTTGTTGCTTATCGGGTTTAATATTGTTCTTGAAAATAGTTGATGCTATGTTATGTATAACTTTTCTAATAAAAGTTGTGTTATAAGCTGTA)$ . 01BR001 ENSG00000163634.12 ENSG00000278212.2 -/- -/- chr3:63834063 chrY:11212802 3'UTR exon/splice-site translocation 0 2 0 323 10 medium stop-codon . . . . ENSG00000163634.12 ENSG00000278212.2 ENST00000469584.5 ENST00000652671.1 upstream downstream duplicates(1) ^(GTGGGAGTTTGACCTCCGCCGCCGCCAACCGCCGCCTCAGCTTGCGCCGCCGCCGCCGCCGCCGCCGCCGCGCACGCCATGGGAGCCGTGACTGACG___ATATAGCCAGTACCAACGTATGCTGAGCACGCTGTCTCAATGTGAATTTTCAATGGGCAAAACTTTACTAGTATATGATATGAATCTCAGAGAAATGGAAAATTATGAAAAAATTTACAAGGAAATAG___AATGTAGCATAGCTGGAGCACATGAAAAAATTGCTGAGTGCAAAAAGCAAATTCTTCAAGCAAAACGAATACGAAAAAATCGCCAAG___AATATGATGCTTTGGCAAAAGTGATTCAGCACCATCCAGACAGGCATGAGACATTAAA___GGAACTAGAGGCTCTGGGAAAAGAATTAGAGCATCTTTCACACATTAAAGAAAGTGTTGAAGATAAG___CTGGAATTGAGACGGAAACAGTTTCATGTTCTTCTTAGTACCATCCATGAACTTCAGCAAACATTGGAAA___ATGATGAAAAACTCTCAGAGGTAGAAGAAGCTCAGGAAGCAAGCATGGAAACAGATCCTAAGCCATAGACAGGCTA)ATTGCCCACCACTCCCAGGAATATTGAAATAGCTACATGACCATAATGTGTTTAAAATGTG|CTATGTTTCCAGTGTCCTCTGGGTGTTTCCAAGAGCAACAAGAAACGAATAAATCTCTG(___CCCCGCAGCGCCTCCACCCCAGAGACCCGGACCAAGTTCACACAGGACAATCTGTGCCGCGCCCAGCGCGAGCGCCTGGACTCAGCCAACCTGTGGGTGCTGGTGGACTGCATCCTTCGCGACACCTCCGAGGACCTGGGACTCCAGTGTGACGCAGTGAACCTGGCCTTTGGGCGCCGCTGTGAGGAACTGGAGGACGCGCGGCACAAGCTGCAGCACCACCTGCAAAAG)$ . 01BR008 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 17 1 190 102 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAA)CACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAG...TCTAGTCAATTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAAGCCTCTATAGCTTGGCCTGTCTTCGTAGGAAACCCTGGC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR008 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 11 10 0 48 38 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTG)GGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 01BR008 ENSG00000080608.10 ENSG00000080608.10 -/- -/+ chr9:2829774 chr9:2831978 CDS/splice-site intron inversion/5'-5' 5 4 0 148 14 high out-of-frame . . . . ENSG00000080608.10 ENSG00000080608.10 ENST00000397885.3 . upstream upstream . ^(GGAGAGGCGGTCGGGATCCGCTGCGCGAGCTGTCTCGGTCCCACGTGTGCG___AGTTGCTACGATGGAAGTTAAAGGGAAAAAGCAATTCACAGGAAAGAGTACAAAGACAGCACAAGAAAAAAACAGATTTCATAAAAATAGTG___ATTCTGGTTCTTCAAAGACATTTCCAACAAGGAAAGTTGCTAAAGAAGGTGGACCTAAAGTCACATCTAGGAACTTTGAGAAAAGTATCACAAAACTTGGGAAAAAGGGTGTAAAGCAGTTCAAGAATAAGCAGCAAGGGGACAAATCACCAAAGAACAAATTCCAGCCGGCAAATAAATTCAACAAGAAGAGAAAATTCCAGCCAGATGGTAGAAGCGATG___AATCAGCAGCCAAGAAGCCCAAATGGGATGACTTCAAAAAGAAGAAGAAAGAACTGAAGCAAAGCAGACAACTCAGTGATAAAACCAACTATGACATTGTTGTTCGGGCAAAGCAGATGTGGGAGATTTTAAGAAG___AAAAGACTGTGACAAAGAAAAAAGAGTAAAGTTAATGAGTGATTTGCAGAAGTTGATTCAAGGGAAAATTAAAACT___ATTGCATTTGCACACGATTCAACTCGTGTGATCCAGTGTTACATTCAGTATGGTAATGAAGAACAGAGAAAACAGGCTTTTGAAGAATTGCGAG___ATGATTTGGTTGAGTTAAGTAAA)GCCAAATATTCGAGAAATATTGTTAAGAAATTTCTCATGTATGG___AAGTAAACCACAGATTGCAGAGATAATCAGAAGTTTTAAAGGCCACGTGAGGAAGATGCTGCGGCATGCGGAAGCATCAGCCATCGTGGAGTACGCATACAATGACAAAGCCATTTTGGAGCAGAGGAACATGCTGACGGAAGAGCTCTATGGGAACACATTTCAGCTTTACAAG|GACCCACTGACCAATTTTCTAGAGCGCCCTCCACGAATCATCCATCATGCAAAATTATTTTCACTACGCCACAGTACCAGTCTACTTCAAAAGTGCTTATTTGTTGCTCACTCTAAAGTTTCTGAATTCCAAC MEVKGKKQFTGKSTKTAQEKNRFHKNSDSGSSKTFPTRKVAKEGGPKVTSRNFEKSITKLGKKGVKQFKNKQQGDKSPKNKFQPANKFNKKRKFQPDGRSDESAAKKPKWDDFKKKKKELKQSRQLSDKTNYDIVVRAKQMWEILRRKDCDKEKRVKLMSDLQKLIQGKIKTIAFAHDSTRVIQCYIQYGNEEQRKQAFEELRDDLVELSKAKYSRNIVKKFLMYGSKPQIAEIIRSFKGHVRKMLRHAEASAIVEYAYNDKAILEQRNMLTEELYGNTFQLYK|dpltnflerppriihhaklfslrhstsllqkclfvahskvsefq 01BR008 ENSG00000125970.12 ENSG00000223410.1(228270),ENSG00000204103.4(331221) +/+ ./+ chr20:34031604 chr20:40354627 5'UTR/splice-site intergenic deletion 5 2 0 458 10 high out-of-frame . . . . ENSG00000125970.12 . ENST00000375114.7 . downstream upstream mismatches(1) ^(TCTGGACCTTTCCAAAGCCAGGCTGAGAGGGTGGGGAGAGCCCATGCGCCTGGGAAGCCGGGCTGTTTCTGGGCGGGGCTGCAGACTCCTCGTGCTCGTGTCACCGTGTCCTTCCCAGGAGACAGAGAAGGAGGAGAGCCCGGAACCAGGGCCGGAGCGGCGGGCGGAGCCGAGCTGCGGGGAGCCGCTCCGGGTGCCCCCACCCCCGCGCGCCTCAGTGGTGCCGGCCGAGGGCAGGGCTCGCGGTTGCGGGGCTCGCGCCGCTGTCAGTGCGGCGGGGCGCGCGAGCGGCGCCAGCTCGGGGCAGCGGAACCCAGAGAAGCTGAGGGGGCGGTAGCGGCGGCGACGGCGACGACGACGACTCCCGCGCGTGTGCC)CAGCCTCTTCCCGCCGCAGCCGCCCTTTTCCTCCCTCCCTTACGTCCCCGAGTGCGGCAGTACCGCCTCCTTCCCAGCCGCGCGGCTTCCTCCAGACCTCTCGGCGCGG___GTGAGCCCTATTCCCAGAGGCAGGTGGTGCTGACCCTGTAACCCAAAGGAGGAAACAGCTGGCTAAGCTCATCATTtTTACTG|AATGACCAGGAATATTCTATGGAAGCAGAATGTTAAGGAAGATATAACGCATGTTGGTGCAGAGAACACCAGTCTCTGAATGCTGGACCTTTAAAACCTT___GTT...___CACAGAATCTGAGGGCTCAAGGG ndqeysmeaec* 01BR008 ENSG00000133731.10 ENSG00000240771.8 -/- +/+ chr8:81680650 chr12:57615512 CDS/splice-site CDS/splice-site translocation 2 3 0 20 27 high out-of-frame . Inositol_monophosphatase_family(100%)| . . ENSG00000133731.10 ENSG00000240771.8 ENST00000256108.10 ENST00000333972.11 upstream upstream . ^(AGCCCCTCTACCTCCGGAAGAGACGAGTGCGGTAACACCGTTCACAGAGCTAGCCGGACGTCCTCCGACTCAAG___ATATTTGTCAAATATTTTCAGAAGATGGCTGATCCTTGGCAGGAATGC)ATGGATTATGCAGTAACTCTAGCAAGACAAGCTGGAGAG___GTAGTTTGTGAAGCTATAAAAAATGAAATGAATGTTATGCTGAAAAGTTCTCCAGTTGATTTGGTAACTGCTACGGACCAAAAAGTTGAAAAAATGCTTATCTCTTCCATAAAGGAAAAGTATCCATCTCACAG|GGCAAACTGACTGCTCAGGGGAAGCTCTTGGGCCAGGACACTTTCTGGGTCACCGAGCCTGAGGCTGGAGGGCTGCTGTCTTCCCGAGGTCGAGAGAGGCGCGTCTTCCTCTTTGAGCAAATCATCATCTTCAGTGAAGCCCTGGGAGGAGGAGTGAGAGGTGGAACACAGCCTGGATATGTATACAAG(AACAGCATTAAG___GTGAGCTGCCTGGGACTGGAGGGGAACCTCCAAGGTGACCCTTGCCGCTTTGCACTGACCTCCAGAGGGCCAGAGGGTGGGATCCAGCGCTATGTCCTGCAGGCTGCAGACCCTGCTATCAGTCAGGCCTGGATCAAGCATGTGGCTCAGATCTTGGAGAGCCAACGGGACTTCCTCAACG___CATTGCAGTCACCCATTGAGTACCAGAGACGGGAGAGCCAGACCAACAGCCTGGGGCGGCCAAGAGGGCCTGGAGTGGGGAGCCCTGGAAGAATTCAGCTTGGAGATCAGGCCCAGGGCAGCACACACACACCCATCAATGGCTCTCTCCCCTCTCTGCTGCTGTCACCCAAAGGGGAGGTGGCCAGAGCCCTCTTGCCACTGGATAAACAG___GCCCTTGGTGACATCCCCCAGGCTCCCCATGACTCTCCTCCAGTCTCTCCAACTCCAAAAACCCCTCCCTGCCAAGCCAGACTTGCCAAGCTGGATGAAGATGAGCTGTAACTGGTGAAAACCATGGGGGTGGTGCTGACTCAGCCGCCTATTCCCCAAGGAGCTTCAGGGCAGTCCTTCTGGCACTGCTCCAGAATTCCTCCTTCTTGGTGTGTCTGGAGGGTGGGCAAGGCTGGGAGGGATATCAACTTGGAGGAGAACACCTAGACCCAAGGACTTTTTTCTGCCCAAGGAACACAGTTTCCTTCAGCTCCCATCCCTATGCATGCATCATGGTCCCCCCAAAAGGAGGATATGTGGGTGGGTGGGAGGGCTGGGGCAGGGGCCAGATAGAAATTATTGGTTTTGTTTTTTAATTTTGTTTTTCCTGTTTTCTGAGAATAAAGGTTTTGTTATATCA)$ MADPWQECMDYAVTLARQAGEVVCEAIKNEMNVMLKSSPVDLVTATDQKVEKMLISSIKEKYPSHr|an* 01BR008 ENSG00000133731.10 ENSG00000287908.1 -/- +/+ chr8:81680650 chr12:57615512 CDS/splice-site CDS/splice-site translocation 2 3 0 20 27 high out-of-frame . Inositol_monophosphatase_family(100%)| . . ENSG00000133731.10 ENSG00000287908.1 ENST00000256108.10 ENST00000474359.7 upstream upstream . ^(AGCCCCTCTACCTCCGGAAGAGACGAGTGCGGTAACACCGTTCACAGAGCTAGCCGGACGTCCTCCGACTCAAG___ATATTTGTCAAATATTTTCAGAAGATGGCTGATCCTTGGCAGGAATGC)ATGGATTATGCAGTAACTCTAGCAAGACAAGCTGGAGAG___GTAGTTTGTGAAGCTATAAAAAATGAAATGAATGTTATGCTGAAAAGTTCTCCAGTTGATTTGGTAACTGCTACGGACCAAAAAGTTGAAAAAATGCTTATCTCTTCCATAAAGGAAAAGTATCCATCTCACAG|GGCAAACTGACTGCTCAGGGGAAGCTCTTGGGCCAGGACACTTTCTGGGTCACCGAGCCTGAGGCTGGAGGGCTGCTGTCTTCCCGAGGTCGAGAGAGGCGCGTCTTCCTCTTTGAGCAAATCATCATCTTCAGTGAAGCCCTGGGAGGAGGAGTGAGAGGTGGAACACAGCCTGGATATGTATACAAG(AACAGCATTAAG___GTGAGCTGCCTGGGACTGGAGGGGAACCTCCAAGGTGACCCTTGCCGCTTTGCACTGACCTCCAGAGGGCCAGAGGGTGGGATCCAGCGCTATGTCCTGCAGGCTGCAGACCCTGCTATCAGTCAGGCCTGGATCAAGCATGTGGCTCAGATCTTGGAGAGCCAACGGGACTTCCTCAACG___CATTGCAGTCACCCATTGAGTACCAGAGACGGGAGAGCCAGACCAACAGCCTGGGGCGGCCAAGAGGGCCTGGAGTGGGGAGCCCTGGAAGAATTCAGCTTGGAGATCAGGCCCAGGGCAGCACACACACACCCATCAATGGCTCTCTCCCCTCTCTGCTGCTGTCACCCAAAGGGGAGGTGGCCAGAGCCCTCTTGCCACTGGATAAACAG___GCCCTTGGTGACATCCCCCAGGCTCCCCATGACTCTCCTCCAGTCTCTCCAACTCCAAAAACCCCTCCCTGCCAAGCCAGACTTGCCAAGCTGGATGAAGATGAGCTGTAACTG___GTTTTGTTATATCACCGAGGCTGCTGTCTTGGCAGAGGGAAGGGGAGGCTGTAGTGGGG___CCACCCCAGAGCCAGCGATCAGATCCGGCCAAGGATGTCTGCAGAAACGCCTAACATAGAGACTCTCCCTCTCCAAGCCGCGGCTCTCGCCAGACCCGAGAAG___GCTCAGGGAAGCTCTCACCGAGGCTCGGTTCCATCAGCTCTTCAGGGGCGAAGAGCAGGAACCGGAGCTACCTGAAGAGCGCGGCTTTCCCCGGCTCTTCGGGCTGTGGAGGCTGCGGGCTCGCGCTTGTTCCGGGACAGGGGCGTGGCGCCTGCTGCTGGCTCGGCTGCCCGCGCTGCACTGGCTGCCCCATTACCGCTGGCGGGCCTGGCTGCTCGGAGATGCGGTGGCCGGAGTGACCGTGGGCATCGTGCACGTGCCCCAGG___GCATGGCTTTTGCTCTCCTGGCCTCCGTGCCCCCGGTGTTTGGACTCTACACTTCTTTCTTCCCCGTCCTCATCTACAGCTTGCTAGGTACTGGGAGACACCTGTCCACAG___GAACTTTCGCCATACTCAGCCTCATGACAGGCTCGGCCGTCGAGCGGCTGGTGCCGGAACCCCTCGTGGGGAATCTGAGCGGAATCGAGAAGGAGCAGCTGGACGCTCAACGGGTTGGGGTAGCCGCGGCCGTGGCCTTCGGGAGCGGGGCGTTGATG___CTGGGGATGTTCGTGCTGCAGCTCGGCGTCTTGTCCACCTTTTTGTCCGAGCCTGTGGTCAAGGCGCTGACCAGCGGGGCCGCGCTGCACGTGCTCTTGTCCCAGCTGCCGAGCCTCTTGGGGTTGTCCCTCCCGCGCCAGATCGGCTGCTTCTCTCTCTTCAAG___ACGCTGGCCTCCTTGCTGACTGCGCTGCCTCGGAGCAGTCCGGCCGAACTGACCATCTCCGCGCTCAGCCTGGCGCTGCTCGTGCCGGTCAAGGAATTGAAC___GTGCTTCTGGCCTCCGTGCTCTGCTTCACCTCTTCTGTGGACACAAGATACCAAGTCCAGATAGTGGGGCTGTTGCCTGGAGG___GAGTTCCTGGCACATGGTGCCTCCAACCTCATCTCCTCCCTCTTCTCTTGCTTTCCCAACTCGGCTACGCTGGCCACCACCAATCTACTGGTGGATGCTGGTGGGAAAACACAG___CTGGCAGGCCTCTTCTCCTGCACAGTGGTCCTGTCGGTGCTGCTGTGGCTGGGGCCCTTCTTTTACTATCTGCCCAAG___GCTGTCCTGGCTTGCATCAACATCTCCAGCATGCGCCAGGTGTTCTGCCAGATGCAGGAACTTCCACAACTATGGCACATCAGCCGAGTGGACTTT___GCTGTGTGGATGGTCACCTGGGTGGCAGTAGTGACCCTGAGTGTGGATTTGGGCCTGGCTGTGGGTGTGGTCTTCTCCATGATGACTGTGGTCTGCCGCACCCGGAG___CTCCTCCAGGTCCCGGGGCTCTGCATCCTGAGCTATCCAACACCACTGTACTTTGGGACCCGTGGGCAGTTTCGCTGCAACCTGGAGTGGCACCTGGGGCTCGGAGAAGGAGAAAAG___GAGACTTCAAAGCCAGATGGCCCAATGGTTGCAG___TTGCTGAGCCTGTCAGGGTGGTGGTCCTAGACTTCAGTGGTGTCACCTTTGCAGATGCTGCTGGGGCCAGAGAAGTGGTGCAG___CTGGCCAGCCGATGTCGAGATGCTAGGATCCGCCTCCTCCTGGCTCAGTGTAATG___CCTTGGTGCAGGGGACACTGACCCGGGTAGGACTCCTGGACAGGGTGACTCCAGATCAGCTGTTTGTGAGTGTGCAGGATGCAGCTGCTTATGCCCTGGGGAGCCTGTTAAGGGGCAGTAGCACCAGGAGCGGGAGCCAGGAGGCACTGGGCTGCGGCAAGTGAGGCAGGG___GAGCTCACTGACCCAAAGATTTGCACCGTGTGGGTCTGACCTCATCATGTGGAGTGCAGAGGGCCCTGATGACATGTGTGTGATGAGGACCATGACCCTTGAACCCCCTTACCTAACGTAACTAATAA)$ MADPWQECMDYAVTLARQAGEVVCEAIKNEMNVMLKSSPVDLVTATDQKVEKMLISSIKEKYPSHr|an* 01BR008 ENSG00000153283.13 ENSG00000153283.13(13155),ENSG00000240891.8(9149) +/+ ./+ chr3:111649858 chr3:111665527 3'UTR intergenic deletion/read-through 5 17 0 60 43 medium stop-codon . Immunoglobulin_V-set_domain(100%)| . . ENSG00000153283.13 . ENST00000352690.9 . downstream upstream duplicates(1),mismatches(1) ^(AATTGACTTTGTGATCATTACAGAAATGCTGGTGTAAGGTGTTCAGAAGACAATGGAGAAAAAATGGAAATACTGTGCTGTCTATTACATCATCCAGATACATTTTGTCAAGG___GAGTTTGGGAAAAAACAGTCAACACAGAAGAAAATGTTTATGCTACACTTGGCTCTGATGTCAACCTGACCTGCCAAACACAGACAGTAGGCTTCTTCGTGCAGATGCAATGGTCCAAGGTCACCAATAAGATAGACCTGATTGCTGTCTATCATCCCCAATACGGCTTCTACTGTGCCTATGGGAGACCCTGTGAGTCACTTGTGACTTTCACAGAAACTCCTGAGAATGGGTCAAAATGGACTCTGCACTTAAGGAATATGTCTTGTTCAGTCAGTGGAAGGTACGAGTGTATGCTTGTTCTGTATCCAGAGGGCATTCAGACTAAAATCTACAACCTTCTCATTCAGACACACG___TTACAGCAGATGAATGGAACAGCAACCATACGATAGAAATAGAGATAAATCAGACTCTGGAAATACCATGCTTTCAAAATAGCTCCTCAAAAATTTCATCTGAGTTCACCTATGCATGGTCGGTG___GAGGATAATGGAACTCAGGAAACACTTATCTCCCAAAATCACCTCATCAGCAATTCCACATTACTTAAAGATAGAGTCAAGCTTGGTACAGACTACAGACTCCACCTCTCTCCAGTCCAAATCTTCGATGATGGGCGGAAGTTCTCTTGCCACATTAGAGTCGGTCCTAACAAAATCTTGAGGAGCTCCACCACAGTCAAGGTTTTTG___CTAAACCAGAAATCCCTGTGATTGTGGAAAATAACTCCACGGATGTCTTGGTAGAG___AGAAGATTTACCTGCTTACTAAAGAATGTATTTCCCAAAGCAAATATCACATGGTTTATAGATGGAAGTTTTCTTCATGATGAAAAAGAAG___GAATATATATTACTAATGAAGAGAGAAAAGGCAAAGATGGATTTTTGGAACTGAAGTCTGTTTTAACAAGGGTACATAGTAATAAACCAGCCCAATCAGACAACTTGACCATTTGGTGTATGGCTCTGTCTCCAGTCCCAGGAAATAAAGTGTGGAACATCTCATCAGAAAAGATCACTTTTCTCTTAG___GTTCTGAAATTTCCTCAACAGACCCTCCACTGAGTGTTACAGAATCTACCCTTGACACCCAACCTTCTCCAGCCAGCAGTGTATCTCCTGCAA___GATATCCAGCTACATCTTCAGTGACCCTTGTAGATGTGAGTGCCTTGAGGCCAAACACCACTCCTCAAC___CCAGCAATTCCAGTATGACTACCCGAGGCTTCAACTATCCCTGGACCTCCAGTGGGACAGATACCAAAAAAT___CAGTTTCACGGATACCTAGTGAAACATACAGTTCATCCCCGTCAGGTGCAGGCTCAACACTTCATG___ACAATGTCTTTACCAGCACAGCCAGAGCATTTTCAGAAGTCCCCACAACTGCCAATGGATCTACGAAAACTAATCACGTCCATATCACTG___GTATTGTGGTCAATAAGCCCAAAGATGGAATGTCCTGGCCAGTGATTGTAG)CAGagTTACTCTTTTGCTGCATGtTATTGTTTGtTCTTGGAGTGAGAAAATGGTGTCAGTACCAAAAAGAAAT___AATGGAAAGACCTCCACCTTTCAAGCCACCACCACCTCCCATCAAGTACACTTGCATTCAAGAGCCCAACGAAAGTGATCTGCCTTATCATGAGATGGAGACCCTCTAGTCTCGTGAGACTTTGCCCCATGGCAGAACTCTGCTGGAATCCTATTGAGAAG|GTATTGGCTGGGATCCACCAAAACTTCAATCAATTTTCCTTTCTTAAGGAGATAATTGGAGCCCTTTGATTTTCCCAAAACTCCAGAGCAAACTTACCCTCTCACCGTTGAACCATTTCATATCAAAGAAAACTAAGCTGTGTTTCTCCAGACTCCACCCAAGAAAGAGACTTTCATTCCTCCCTCAAACCCTTGGGCAGTGTTTTTTGTTGCTACTTTAGTAGAAACTACGGAAACAATTCACAGTTTACAGCAGTCCCTGCAGCAAGATCCCACACATGTGGCAGAACTGGG . 01BR008 ENSG00000204642.14 ENSG00000130985.17 +/+ +/+ chr6:29727004 chrX:47205948 CDS CDS/splice-site translocation 11 0 0 127 375 medium in-frame . Class_I_Histocompatibility_antigen__domains_alpha_1_and_2(100%),Immunoglobulin_C1-set_domain(100%)|ThiF_family(100%),Ubiquitin-activating_enzyme_active_site_(100%),Ubiquitin_fold_domain(100%) . . ENSG00000204642.14 ENSG00000130985.17 ENST00000259951.12 ENST00000377351.8 downstream upstream mismatches(2) ^(ATATTTTTCCCAGACGCGGAGGTTGGGGTCATGGCGCCCCGAAGCCTCCTCCTGCTGCTCTCAGGGGCCCTGGCCCTGACCGATACTTGGGCGG___GCTCCCACTCCTTGAGGTATTTCAGCACCGCTGTGTCGCGGCCCGGCCGCGGGGAGCCCCGCTACATCGCCGTGGAGTACGTAGACGACACGCAATTCCTGCGGTTCGACAGCGACGCCGCGATTCCGAGGATGGAGCCGCGGGAGCCGTGGGTGGAGCAAGAGGGGCCGCAGTATTGGGAGTGGACCACAGGGTACGCCAAGGCCAACGCACAGACTGACCGAGTGGCCCTGAGGAACCTGCTCCGCCGCTACAACCAGAGCGAGGCTG___GGTCTCACACCCTCCAGGGAATGAATGGCTGCGACATGGGGCCCGACGGACGCCTCCTCCGCGGGTATCACCAGCACGCGTACGACGGCAAGGATTACATCTCCCTGAACGAGGACCTGCGCTCCTGGACCGCGGCGGACACCGTGGCTCAGATCACCCAGCGCTTCTATGAGGCAGAGGAATATGCAGAGGAGTTCAGGACCTACCTGGAGGGCGAGTGCCTGGAGTTGCTCCGCAGATACTTGGAGAATGGGAAGGAGACGCTACAGCGCGCAG___ATCCTCCAAAGGCACACGTTGCCCACCACCCCATCTCTGACCATGAGGCCACCCTGAGGTGCTGGGCCCTGGGCTTCTACCCTGCGGAGATCACGCTGACCTGGCAGCGGGATGGGGAGGAACAGACCCAGGACACAGAGCTTGTGGAGACCAGGCCTGCAGGGGATGGAACCTTCCAGAAGTGGGCCGCTGTGGTGGTGCCTCCTGGAGAGGAACAGAGATACACATGCCATGTGCAGCACGAGGGGCTGCCCCAGCCCCTCATCCTGAGATGGG___AGCAGTCTCCCCAGCCCACCATCCCCATCGTGGGCATCGTTGCTG)GCCTTGTTGTCCTTGGAGCTGTGGTCACTGGAGCTGTGGTCGCTGCTGTGATGTGGAGGAAGAAGAGCTCAG___ATAGAAACAGAGGGAGCTACTCTCAGGCTGCAG___CCTACTCAGTGGTCAGCGGActCTTGATGATAACATGGTGGTCAAGCTTATTTCTCCTGGGGGTGCTCTTCCAAGGATATTTGGGCTGCCTCCGGAGTCACAGTGTCTTGGGCCGCCGGAAG|AAGTTAAAGTCTGACACGGCTGCTGCAGCTGTGCGCCAAATGAATCCACATATCCGGGTGACAAGCCACCAGAACCGTGTGGGTCCTGACACGGAG(CGCATCTATGATGACGATTTTTTCCAAAACCTAGATGGCGTGGCCAATGCCCTGGACAACGTGGATGCCC___GCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGCTGGAGTCAGGCACACTGGGCACCAAAGGCAATGTGCAGGTGGTGATCCCCTTCCTGACAGAGTCGTACAGTTCCAGCCAGGACCCACCTGAGAAGTCCATCCCCATCTGTACCCTGAAGAACTTCCCTAATGCCATCGAGCACACCCTGCAG___TGGGCTCGGGATGAGTTTGAAGGCCTCTTCAAGCAGCCAGCAGAAAATGTCAACCAGTACCTCAC___AGACCCCAAGTTTGTGGAGCGAACACTGCGGCTGGCAGGCACTCAGCCCTTGGAGGTGCTGGAGGCTGTGCAGCGCAGCCTGGTGCTGCAGCGACCACAGACCTGGGCTGACTGCGTGACCTGGGCCTGCCACCACTGGCACACCCAGTACTCGAACAACATCCGGCAGCTGCTGCACAACTTCCCTCCTGACCAG___CTCACAAGCTCAGGAGCGCCGTTCTGGTCTGGGCCCAAACGCTGTCCACACCCGCTCACCTTTGATGTCAACAAT___CCCCTGCATCTGGACTATGTGATGGCTGCTGCCAACCTGTTTGCCCAGACCTACGGGCTGACAGGCTCTCAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGTGCAGGTCCCCGAATTCACCCCCAAGTCTGGCGTCAAGATCCATGTTTCTGACCAGGAGCTGCAGAGCGCCAATGCCTCTGTTG___ATGACAGTCGTCTAGAGGAGCTCAAAGCCACTCTGCCCAGCCCAGACAAGCTCCCTGGATTCAAGATGTACCCCATTGACTTTGAGAAG___GATGATGACAGCAACTTTCATATGGATTTCATCGTGGCTGCATCCAACCTCCGGGCAGAAAACTATGACATTCCTTCTGCAGACCGGCACAAG___AGCAAGCTGATTGCAGGGAAGATCATCCCAGCCATTGCCACGACCACAGCAGCCGTGGTTGGCCTTGTGTGTCTGGAGCTGTACAAGGTTGTGCAGGGGCACCGACAGCTTGACTCCTACAAGAATGGTTTCCTCAACTTGGCCCTGCCTTTCTTTGGTTTCTCTGAACCCCTTGCCGCACCACGTCACCAG___TACTATAACCAAGAGTGGACATTGTGGGATCGCTTTGAGGTACAAGGGCTGCAGCCTAATGGTGAGGAGATGACCCTCAAACAGTTCCTCGACTATTTTAAG___ACAGAGCACAAATTAGAGATCACCATGCTGTCCCAGGGCGTGTCCATGCTCTATTCCTTCTTCATGCCAGCTGCCAAGCTCAAGGAACGGTTGGATCAGCC___GATGACAGAGATTGTGAGCCGTGTGTCGAAGCGAAAGCTGGGCCGCCACGTGCGGGCGCTGGTGCTTGAGCTGTGCTGTAACGACGAGAGCGGCGAGGATGTCGAGGTTCCCTATGTCCGATACACCATCCGCTGACCCCGTCTGCTCCTCTAGGCTGGCCCCTTGTCCACCCCTCTCCACACCCCTTCCAGCCCAGGGTTCCCATTTGGCTTCTGGCAGTGGCCCAACTAGCCAAGTCTGGTGTTCCCTCATCATCCCCCTACCTGAACCCCTCTTGCCACTGCCTTCTACCTTGTTTGAAACCTGAATCCTAATAAAGAATTAATAACTCCCA)$ MAPRSLLLLLSGALALTDTWAGSHSLRYFSTAVSRPGRGEPRYIAVEYVDDTQFLRFDSDAAIPRMEPREPWVEQEGPQYWEWTTGYAKANAQTDRVALRNLLRRYNQSEAGSHTLQGMNGCDMGPDGRLLRGYHQHAYDGKDYISLNEDLRSWTAADTVAQITQRFYEAEEYAEEFRTYLEGECLELLRRYLENGKETLQRADPPKAHVAHHPISDHEATLRCWALGFYPAEITLTWQRDGEEQTQDTELVETRPAGDGTFQKWAAVVVPPGEEQRYTCHVQHEGLPQPLILRWEQSPQPTIPIVGIVAGLVVLGAVVTGAVVAAVMWRKKSSDRNRGSYSQAAAYSVVSGlLMITWWSSLFLLGVLFQGYLGCLRSHSVLGRRK|KLKSDTAAAAVRQMNPHIRVTSHQNRVGPDTERIYDDDFFQNLDGVANALDNVDARMYMDRRCVYYRKPLLESGTLGTKGNVQVVIPFLTESYSSSQDPPEKSIPICTLKNFPNAIEHTLQWARDEFEGLFKQPAENVNQYLTDPKFVERTLRLAGTQPLEVLEAVQRSLVLQRPQTWADCVTWACHHWHTQYSNNIRQLLHNFPPDQLTSSGAPFWSGPKRCPHPLTFDVNNPLHLDYVMAAANLFAQTYGLTGSQDRAAVATFLQSVQVPEFTPKSGVKIHVSDQELQSANASVDDSRLEELKATLPSPDKLPGFKMYPIDFEKDDDSNFHMDFIVAASNLRAENYDIPSADRHKSKLIAGKIIPAIATTTAAVVGLVCLELYKVVQGHRQLDSYKNGFLNLALPFFGFSEPLAAPRHQYYNQEWTLWDRFEVQGLQPNGEEMTLKQFLDYFKTEHKLEITMLSQGVSMLYSFFMPAAKLKERLDQPMTEIVSRVSKRKLGRHVRALVLELCCNDESGEDVEVPYVRYTIR* 01BR008 ENSG00000041515.16 ENSG00000236242.1 +/- -/- chr13:109157879 chr13:109167304 intron exon/splice-site duplication/3'-3' 7 3 0 14 12 medium . . . . . ENSG00000041515.16 ENSG00000236242.1 . ENST00000439299.1 upstream downstream mismatches(1) GAAGGCAAAGAGATGCCCTGGAGCGCAGTGGCCACTCTGGaGAACATGAGAGCTGAATGAAGAAGcAAGGAAGAGGGGTGGACCATGAGCAAACTATATTCCTCCCCCAAGCTAGGGAGCTCTCCACTGATTCAACAGGTATTCACGTCCTACAAGGTCCAAACCTGGTGCTAAGATTTACTTTAGAACTTAAAGAAATATTCGTCCGAAAGAAACAATCCATTGAGTGCTCACATTTTAGAGGGGTTATGGAGCACGGCAGATGACAAGAATTTATGACGACCGG|GCTTCATCCATGTGCTAGTTCAGCCTGTGAGATGCTGGTGAGCCCACCTCCAGGCACTCACGGACTCCCCACCCATTGAGTGTGGCCTGGATTTAGTGACTCAATCAAACGTGACAGAGTGCTGGGGTGTCATTTTCAAGACTGGGTTATGTGAAGACTGCAGCCTCCATCTGGGGTGCTCTCTCTTGGATTGCTTGCTCAGGGATGTGGGGAGAGCTGCTGTGCTGGGAG(GCTGCCCATGTGAGTTGACTTGGATGTGAACCTTCTGTGGCCTGCCAATAGCCAC___GTGTTTGTGTGGACACTGCTGTCATTTCTCTTGGGAAGATACTGAGGAGTCAGATTGCTGGATCCCGTGAAGAAT___GTGCACCTGGGATTGGCTCTTGCTTCCTAAGGAACCTCAAAAAAGCTGCAACCTATTGGAGACTTTTGATTCAGCATCAAGGATATGCGTGAGACTTTGGTTCTTTTCTGTTGGGACACAGTTGATTCTGACTGTCTTAAAGTTAGGCTTTTCTAAAGATTTAGACTAATAAATTATTTGAATGGGACAA)$ . 01BR008 ENSG00000125970.12 ENSG00000223410.1(272528),ENSG00000204103.4(286963) +/+ ./+ chr20:34031604 chr20:40398885 5'UTR/splice-site intergenic deletion 1 2 0 458 24 medium out-of-frame . . . . ENSG00000125970.12 . ENST00000375114.7 . downstream upstream . ^(TCTGGACCTTTCCAAAGCCAGGCTGAGAGGGTGGGGAGAGCCCATGCGCCTGGGAAGCCGGGCTGTTTCTGGGCGGGGCTGCAGACTCCTCGTGCTCGTGTCACCGTGTCCTTCCCAGGAGACAGAGAAGGAGGAGAGCCCGGAACCAGGGCCGGAGCGGCGGGCGGAGCCGAGCTGCGGGGAGCCGCTCCGGGTGCCCCCACCCCCGCGCGCCTCAGTGGTGCCGGCCGAGGGCAGGGCTCGCGGTTGCGGGGCTCGCGCCGCTGTCAGTGCGGCGGGGCGCGCGAGCGGCGCCAGCTCGGGGCAGCGGAACCCAGAGAAGCTGAGGGGGCGGTAGCGGCGGCGACGGCGACGACGACGACTCCCGCGCGTGTGCCC)AGCCTCTTCCCGCCGCAGCCGCCCTTTTCCTCCCTCCCTTACGTCCCCGAGTGCGGCAGTACCGCCTCCTTCCCAGCCGCGCGGCTTCCTCCAGACCTCTCGGCGCGG___GTGAGCCCTATTCCCAGAGGCAGGTGGTGCTGACCCTGTAACCCAAAGGAGGAAACAGCTGGCTAAGCTCATCATTtTTACTG|CACAGAATCTGAGGGCTCAAGGGAATGACTGGCAGACGAAGCCTGAAGGGGATGGTGCAATTTCAAAATTCAACTAGGAAAACCAGATGTCCTACTCTTGGAGTTACGGAGTGCAG___GCCCCAGAGACTGGGGAGCAAGGAGGTCAGGAAAAGAAAGACCCTGCAGAATGGAAGGTCAAGG hri* 01BR008 ENSG00000170919.16 ENSG00000170919.16 +/+ +/+ chr13:45381575 chr13:45376582 intron exon duplication 2 1 0 47 21 medium . . . . . ENSG00000170919.16 ENSG00000170919.16 . ENST00000663584.1 downstream upstream . GGCTCTCAATCCCTGCATCGTTAGGGGTGCCTTCCCCCCTGCGATTGGTGTCCTAAGAGCCAGGGGGGGAAGAGGGGCTGGCTCTCAGTCCCCGCCTCGTAGGGGGTGCCTCCCCCCCTGAGATGGGGGTCCTAAGAGCC|TGGGGCGGAAGAGGGGCTGGCTCTCAGCCACCACAAAATGGGGAGCCTTTATGTTCAGGTTTTGCCCAAGAGTCAGCTTATTTGCTTCTGGTACTAGCAGGGCAGTTGATGCCGTG(GCCTTCAAACATGGGGGCCATCCTTTAGAAACCCTTTCTATTTGTTTAGACACGTAGGCCACCGGCCTCAGCCAGGGCCCCAGAGTTTCGGTTAAAATTCCAGCTGCCATCTTTTCTCTATCTGACGCATTCAATGGAAAAGGCTTTGTCAGATCTGGTAGCCCCGGGGCTGGGGCTGCCAGAAGTTTTTCCTTTAACTCATGAAAGACTTGCTGTTGTTGGGATCCCCATTCTAAAGGTTCCCGGTCCCCGCCCCCTTTGTGACCTCATACAAAGACTTGGCTAATACTGCAAAGTTTGGGATGCACAGTCTACAAAACCCCACAGCCCCTAAGAATTCCCTCACCTGCCTTCTGCCCTTAGGCTCCGGTAGATTGCAAATGACCTGCTTTCTTTCTGTTCCCGGGCGTTTGGACCCCTGTCTTGGACCGCTGTCGGATAGTAAATCCCAAGTAAGGTACCTGCCGTCGGCAGATTTGAGCTTTCTTCTTGGACACCTAATACCCAGAGTCCTCCAG___GCTCCGGTAGATTGCAAATGACCTGCTTTCTTTCTGTTCCCGGGCGGCATCGGACCCGTCGGAGAGTAAATCCCAAGTAAGGTACCTGCCGTTGGCAGATTTGAGCTTTCTTCTTGGACACCTAATACCCACAGTCCTCCAGGTGAGTCCTAAGTATCTTAGGATCCGCGATGGGGGTCCTAAGGCAGGGGGGGAAGAGGGGATGGCTGTCACCCAACCCAAAATGGGCGGCCTTTATGTTCAGGTTTTGCCCAAGAGTCAGCTTATTTGCTTCTTGTACTATCAGGGCAGTTGATGCCACGGCCCTCAAACAGGGGGGCCATCCTTTAGAAACCCTCTCTAGTTGTTTAGAGACGTAGGACATTGGCCTCATCCAGGGCCCCAGAGTTTCGGTTAAAAGTCCAGCTGCCATCTTTTCTCTATCTGACGCGTTCAACGGAAAAGGCTTTGTCAGATCGGGTAGCCCCAGGGCTGGGGCTGCCAGAAGTTTTTCCTTTAACTCATGAAAGACTTGCTGTTGTTGGGATCCCTATTCCAAAGGTTCCCGGTCCCTGCCCCCTTTGTGACCTCATACAAAGACTTGGCTAATACTGCAAAGTTTGGGATGCACAGTCTACAAAACCCCACAGCCCCTGAGAATTCCCTCACCTGCCTTCTGCCCTTAGGCTCCGGTAGATTGCAAATGACCTGCTTTCTTTCTGTTCCCGGGTGGCATCGACCCGTCGGAGAGTAAATCCCAAGTAAGGTACCTGCCGTTGGCAGATTTGAGCTTTCTTCTTGGACACCTAATACCCACAGTCCTCCAGGTGAGTCCTAAGGATCTTAGGATACGCGATGGGGGTCCTAAGGCAGGGGGGGAAGAGGGGATGGCTGTCACCCAACCCAAAATGGGCGGCCTTTATGTTCAGGTTTTGCCCAAGAGTCAGCTTATTTGCTTCTTGTACTATCAGGGCAGTTGATGCCACGGCCCTCAAACATGAGGGGCCATCCTTTAGAAACCCTCTCTAGTTGTTTAGACAACTAGGCCACCGGCCTCAGCCAGGGCCCCAGAGTTTCGGTTAAAAGTCCAGCTGCCATCTTTTCTCTATCTGACGCATTCAATGGAAAAGGCTTTGTCAGATCGGGTAGCCCCAGGGCTGGGGCTGCCAGAAGTTTTTCCTTTAACTCCTGAAAGACTTTTTGTTCTTGGGATCCCCATTCCAAAGGTTCCGTTCCCCGCCCCCTTTGTGACCTCATACAAAGGCTTGGCTAATACTGCAAAGTTTGGGATCCAGTCTACAAAACCCCACAGCTCCCAAGAATTCCCTTACCTGCCTTCTGCCCTTAGGCTCCGGTAGATTGTAAATAACCTGCTTTCTTTCTGTTCCCGGGCTGCGTTCGGACCCCTGTCGGATAGTAAATCCCAAGCAAGGTACCTGCCGTCAGCAGATTTGAGCTTTCTTCTTGGACACCTAATACCCACAGTCCTCCAG___GCTCCGGTAGATTGCAAATGACCTGCTTTCTTTCTGTTCCCGGGCTGCGTTCGGACCCCTGTCGGATAGTAACTCCCAAGTAAGGTACCTGCCGTCGGCAGATTGGAGCTTTCTTCTTGGAGACCTAATACCCACAGTCCTCCAG___GCTCCGGTAGATTGCAAATGACCTGCTTTCTTTCTGTTCCCGGGCTGCGTTCGGACCCCTGTCGGAGAGTAAATCCGAA___AAAAACAAACAAAGACATGGATTTACTGTGCATATTAGCAGATCCATACTGGAAAATGCATGGAGGTTTCATATACACCACTTACA___GGTTTCCAAAGCCACAATTTCCTTCATATGTTCAAACTCTTCAGGATGCAGAAAGGCAGTGAACTCCTCCGGAGTAGCTGTCAGGTCACCATTGAGGTCTGCAGCTTTGAATCTTCTCTCATCACGTGGCAGCATCTTTTTAAAGGTGTGATGATCTGAAGAATCATGAAACTCTGCGGGGTTTCCTAG___GTTTTCAGCTCCTCAGTAGTGACAAAGCCATACCCATCATTGTCGATTCGATCAACAATCTTCCCTAGCCTCTCCTTGCTCTCGTCCGGGGTGAGCTCGTCGAAGTTCTTGGAGTCCTCCTTGCCCAGGAAGGCCTCGTGGTCGTACTGGAAGCTCTGGTTGTCCTCAGGGGGCCGCTCGCCCAGCTCCGAGTCGGGCCGCACCACGCGCTCTTTGCGCACCGTGGGCTTGGCCCGCAGAACCCGCGGCGCCAGCACCAGCGCCAGCAGCAGCCCCAGGGCTAACCCCAGGCGGCCACCGCGCGCCATCGTCCCGAGGAGAGGGCGGCCGGGAGGGAGACGCTGAGCGAGCGACAACAGCGGCAGCTCGGGAATGGGGGCTCGGAGCGCGGCGGCCAAGTTTTATGTTATGTATATTTTACAAGTAAAAAAATTTTTTCACCTCAGCCTGAACTGAACACTAGCTGACAGACGTTTTGATTTCTTTGACCATCACGGAATCGTGGCCAAGCGCGGTGGCTCACATCTGTAATCCCAACACTTTGGGAGGTCAAGATGGGCGGATTGCTTGAATCCAGGTGTTTGAGATCAGCCTGGGCAACATGACAAAACCCTGTTTCTAGTAAAAATACAAAAATTAACCAGGCTCAAGCCATGACCATGCACCATTGC)$ . 01BR008 ENSG00000143669.14 ENSG00000198626.17 -/- +/- chr1:235808571 chr1:237259143 CDS intron duplication/5'-5' 1 1 0 1 4 medium out-of-frame . . . . ENSG00000143669.14 ENSG00000198626.17 ENST00000389794.7 . upstream downstream . ^(CGCGGCGGCGGCGGCAGCGGCGTCGGCTCGGGGTTCTCCGGGAGAGGGGGAGTGCGCGGCGGCCGCAGCTGCCACAAACCAG___GTGAAGCTTTGTTCTAAGAATATTTGTTTCATCTAGTTTATGAGTCCAAATGATATAGACTGTAAATGTCACAGCAGTGGTGAAAGACTG___CTCGGTCATGAGCACCGACAGTAACTCACTGGCACGTGAATTTCTGACCGATGTCAACCGGCTTTGCAATGCAGTGGTCCAGAGGGTGGAGGCCAGGGAGGAAGAAGAGGAGGAGACGCACATGGCAACCCTTGGACAGTACCTTGTCCATGGTCGAGGATTTCTATTACTTACCAAGCTAAATTCTATAATTGATCAG___GCATTGACATGTAGAGAAGAACTCCTGACTCTTCTTCTGTCTCTCCTTCCACTGGTATGGAAGATACCTGTCCAAGAAGAAAAGGCAACAG___ATTTTAACCTACCGCTCTCAGCAGATATAATCCTGACCAAAGAAAAGAACTCAAGTTCACAAAGATCCACTCAGGAAAAATTACATTTAGAAGGAAGTGCCCTGTCTAGTCAGGTTTCTGCAAAAGTAAATGTTTTTCGAAAAAGCAGACGACAGCGTAAAATTACCCATCGCTATTCTGTAAGAGATGCAAGAAAGACACAGCTCTCCACCTCAGATTCAGAAGCCAATTCAGATGAAAAAGGCATAGCAATGAATAAGCATAGAAGGCCCCATCTGCTGCATCATTTTTTAACATCGTTTCCTAAACAAGACCACCCCAAAGCTAAACTTGACCGCTTAGCAACCAAAGAACAGACTCCTCCAGATGCTATGGCTTTGGAAAATTCCAGAGAGATTATTCCAAGACAGGGGTCAAACACTGACATTTTAAGTGAGCCAGCTGCCTTGTCTGTTATCAGTAACATGAACAATTCTCCATTTGACTTATGTCATGTTTTGTTATCTTTATTAGAAAAAGTTTGTAAGTTTGACGTTACCTTGAATCATAATTCTCCTTTAGCAGCCAGTGTAGTGCCCACACTAACTGAATTCCTAGCAGGCTTTGGGGACTGCTGCAGTCTGAGCGACAACTTGGAGAGTCGAGTAGTTTCTGCAGGTTGGACCGAAGAACCGGTGGCTTTGATTCAAAGGATGCTCTTTCGAACAGTGTTGCATCTTCTGTCAGTAGATGTTAGTACTGCAGAGATGATGCCAGAAAATCTTAGGAAAAATTTAACTGAATTGCTTAGAGCAGCTTTAAAAATTAGAATATGCCTAGAAAAGCAGCCTGACCCTTTTGCACCAAGACAAAAGAAAACACTGCAGGAGGTTCAGGAAGATTTTGTGTTTTCAAAGTATCGTCATAGAGCCCTTCTTTTACCTGAGCTTTTGGAAGGAGTTCTTCAGATTCTGATCTGTTGTCTTCAAAGTGCAGCTTCAAATCCCTTCTACTTCAGTCAAGCCATGGATTTGGTTCAAGAATTCATTCAGCATCATGGATTTAATTTATTTGAAACAGCAGTTCTTCAAATGGAATGGCTGGTTTTAAGAGATGGAGTTCCTCCCGAGGCCTCAGAGCATTTGAAAGCCCTAATAAATAGTGTGATGAAAATAATGAGCACTGTCAAAAAAGTGAAATCAGAGCAACTTCATCATTCGATGTGTACAAGAAAAAGGCACAGACGATGTGAATATTCTCATTTTATGCATCATCACCGAGATCTCTCAGGTCTTCTGGTTTCGGCTTTTAAAAACCAGGTTTCCAAAAACCCATTTGAAGAGACTGCAGATGGAGATGTTTATTATCCTGAGCGGTGCTGTTGCATTGCAGTGTGTGCCCATCAGTGCTTGCGCTTACTACAGCAGGCTTCCTTGAGCAGCACTTGTGTCCAGATCCTATCGGGTGTTCATAACATTGGAATATGCTGTTGTATGGATCCCAAATCTGTAATCATTCCTTTGCTCCATGCTTTTAAATTGCCAGCACTGAAAAATTTTCAGCAGCATATATTGAATATCCTTAACAAACTTATTTTGGATCAGTTAGGAGGAGCAGAGATATCACCAAAAATTAAAAAAGCAGCTTGTAATATTTGTACTGTTGACTCTGACCAACTAGCCCAATTAGAAGAGACACTGCAGGGAAACTTATGTGATGCTGAACTCTCCTCAAGTTTATCCAGTCCTTCTTACAGATTTCAAGGGATCCTGCCCAGCAGTGGATCTGAAGATTTGTTGTGGAAATGGGATGCTTTAAAGGCTTATCAGAACTT)TGTTTTTGAAGAAGACAGATTACATAGTATACAGATTGCAAATCACATTTGCAATTTAATCCAGAAAGGCAATATAGTTGTTCAGTGGAAATTATATAATTACATATTTAATCCTGTGCTCCAAAGAGGAGTTGAATTAGCACATCATTGT|TTAAATACAAAATGACACATAAGAGATTATGGCCTGTGAGGCCAGTATTAACAGTGTGCCTTGGTAATGTCAGCCAAAGGGAGCTGGACAGAAACACCCAAATACCAGACACCATCAAGATGA...TCAGAGCCCTCACTTTATTTCCATCAGTCAGAGATGGCAGCTGGCCAAGCAGAAGGCAGAAGGCAGAATGTTGCTCTGAATATATAAACTTTCATCAATGCTTTTCTAGTCCCAGTTTAGTAGAAATAAACACTTCTATCAGAAAGGAAC MSTDSNSLAREFLTDVNRLCNAVVQRVEAREEEEEETHMATLGQYLVHGRGFLLLTKLNSIIDQALTCREELLTLLLSLLPLVWKIPVQEEKATDFNLPLSADIILTKEKNSSSQRSTQEKLHLEGSALSSQVSAKVNVFRKSRRQRKITHRYSVRDARKTQLSTSDSEANSDEKGIAMNKHRRPHLLHHFLTSFPKQDHPKAKLDRLATKEQTPPDAMALENSREIIPRQGSNTDILSEPAALSVISNMNNSPFDLCHVLLSLLEKVCKFDVTLNHNSPLAASVVPTLTEFLAGFGDCCSLSDNLESRVVSAGWTEEPVALIQRMLFRTVLHLLSVDVSTAEMMPENLRKNLTELLRAALKIRICLEKQPDPFAPRQKKTLQEVQEDFVFSKYRHRALLLPELLEGVLQILICCLQSAASNPFYFSQAMDLVQEFIQHHGFNLFETAVLQMEWLVLRDGVPPEASEHLKALINSVMKIMSTVKKVKSEQLHHSMCTRKRHRRCEYSHFMHHHRDLSGLLVSAFKNQVSKNPFEETADGDVYYPERCCCIAVCAHQCLRLLQQASLSSTCVQILSGVHNIGICCCMDPKSVIIPLLHAFKLPALKNFQQHILNILNKLILDQLGGAEISPKIKKAACNICTVDSDQLAQLEETLQGNLCDAELSSSLSSPSYRFQGILPSSGSEDLLWKWDALKAYQNFVFEEDRLHSIQIANHICNLIQKGNIVVQWKLYNYIFNPVLQRGVELAHHC|lntk* 01BR008 ENSG00000183814.15 ENSG00000266094.8 -/- +/+ chr1:226233096 chr1:206586826 CDS/splice-site CDS/splice-site inversion 0 2 0 68 52 medium out-of-frame . |Novel_Ras_effector_1_C-terminal_SARAH_(Sav/Rassf/Hpo)_domain(100%) . . ENSG00000183814.15 ENSG00000266094.8 ENST00000328205.9 ENST00000579436.7 upstream upstream mismatches(1) ^(GCTGGGACCGAGTCCCGGACGTCGCGACGCGCAGGGGGCTGCTGCGGCCGGCGGTCTCGGGAAAAGTGAGGGGACGGAGGCGCCCAAGCAACGTGGGTTTCGGGAACTGTGAGTATTTCACTTTGCGTAGAGCCCCCTCGGGCAATGCGACCCAGAACCGAGGGCTTCTTTCCCCCCGCCGGGGCCTCCCTCCCGTTCTCCACTCGGAACAAACAGCCTGCAGTTCCCGCAGCTGCAGCGCGGGCCGCGGAACATGCGCCGGGAGCGGGGCCCGGGCGGGACTCCGGAGCTGGTACTGCTCCCCCCGCGCTCCGGCGCCGGGCCTCGCCGTGCGGCCTCCTTCCTCCCTTCCTCCCGCCCGGCTCGGCCGGAGGCGGCGGCGGAGGGGCGAGGCGCGGCCCCCCTTCGGCGGCACCTCCTCCCCGGGCAGGCGCGGGCGGAGCCGGGCCCGCCTCAGCCAGCCGCGGCGGGAGCAGCGCAGCGCGGCGCCGCGGGCAGCGAGCTCCGCATTCGAACCTCCCTCGCAAAGACAGTCTCCGCCCCACAATGCACCGCGGCGGGCAGCCTTTGAAAAAGCGGCGCGGCTCGTTCAAGATGGCGGAGCTCGACCAGTTGCCTGACGAGA___GCTCTTCAGCAAAAGCCCTTGTCAGTTTAAAAG___AAGGAAGCTTATCTAACACGTGGAATGAAAAGTACAGTTCTTTACAGAAAACACCTGTTTGGAAAGGCAGGAATACAAGCTCTGCTGTGGAAATG___CCTTTCAGAAATTCAAAACGAAGTCGACTTTTTTCTGATGAAGATGATAGGCAAATAAATACAAGGTCACCTAAAAGAAACCAGAGGGTTGCAATGGTTCCACAG___AAATTTACAGCAACAATGTCAACACCAGATAAGAAAGCTTCACAGAAGATTGGTTTTCGATTACGTAATCTGCTCAAGCTTCCTAAAGCACATAAATGGTGTATATACGAGTGGTTCTATTCAAATATAGATAA___ACCACTTTTTGAAGGTGATAATGACTTCTGTGTATGTCTAAAGGAATCTTTTCCTAATTTGAAAACAAGAAAGTTAACAAGAGTAGAATGGGGAAAAATTCGGCGGCTTATGGGAAAACCACGGAG___ATGTTCTTCTGCATTTTTTGAGGAAGAGAGATCAGCATTAAAACAGAAACGGCAGAAAATAAGGCTCTTACAACAAAGGAAAGTTGCAGATGTTTCACAATTCAAAGATCTCCCAGATGAAATTCCTTTGCCTCTGGTTATTGGAACGAAAGTTACAG___CACGATTACGTGGTGTTCATGATGGTTTGTTCACTGGACAAATAGATGCTGTGGATACTCTTAATGCTACTTATAGAGTAACTTTTGATAGGACAGGGCTTGGAACCCATACCATCCCTGACTATGAAGTTCTC___AGTAATGAACCTCATGAGACAATGCCAATTGCTGCCTTTGGACAAAAACAGCGGCCTTCTCGATTTTTTATGACCCCACCACGGTTACATTATACTCCTCCTCTCCAGTCACCAATTATA___GATAATGATCCTTTATTAGGACAGTCGCCGTGGAGAAGTAAAATTTCTGGCTCTGACACTGAAACATTAGGTGGTTTTCCAGTAGAATTTCTTATCCAAGTG___ACCAGATTATCAAAAATTCTCATGATTAAAAAGGAACATATCAAGAAATTAAGGGAAATGAACACAGAAGCAGAAAAATTG___AAATCATATTCCATGCCCATCAGCATTGAATTTCAGCGGAGATATGCAACAATTGTTCTGGAGCTTGAACAGCTGAACAAGGACCTAAACAAAGTTTTGCATAAAGTTCAACAGTATTGCTATGAG___CTTGCTCCAGACCAGGGGCTCCAGCCTGCAGATCAGCCAACAGATATGAGACGCAGGTGTGAGGAAGAAGCACAGGAAATTGTTCGGCATGCAAATTCCTCAACAGGACAGCCCTGCGTTGAAAATGAAAATCTGACAGACTTAATTTCCAGGCTTACAGCTATTTTGTTACAAATTAAG___TGTCTAGCAGAAGGAGGAGA)CCTGAATTCCTTTGAATTCAAATCACTTACAGACTCATTAAATGATATCAAGAGTACAATAGACGCTTCTAATATCAG|TGGGATGCCTTCTCCATCCCTGAACTTCAGAACTTCCTAACAATCCTGtAAAAAGAGGAGCAGGACAAAATCCAACAAGTGCAAAAtAAGTATGACAAGTTTAGGCAGAAACTGGAGGAGGCCTTAAGAtAATCCCAGGGCAAACCTGGtTAACCGGTCCTGCTTCCTCTCCTCCTGGT(GCATTCAGATTTATTTGTATTATTAATTATTATTTTGCAACAGACACTTTTTCTCAGGACATCTCTGGCAGGTGCATTTGTGCCTGCCCAGCAGTTCCAGCTGTGGCAAAAGTCTCTTCCATGGACAAGTGTTTGCACGAGGGTTCAGCTGTGCCCGCCCCCAGGCTGTGCCCCACCACAGATTCTGCCAAGGATCAGAACTCATGTGAAACAAACAGCTGACGTCCTCTCTCGATCTGCAAGCCTTTCACCAACCAAATAGTTGCCTCTCTCGTCACCAAACTGGAACCTCACACCAGCCGGCAAAGGAAGGAAGAAAGGTTTTAGAGCTGTGTGTTCTTTCTCTGGCATTGATTCCTCTTTGAGTTCTCTTACTTGCCACGTACAGGACCATTATTTATGAGTGAAAAGTTGTAGCACATTCCTTTTGCAGGTCTGAGCTAAGCCCCTGAAAGCAGGGTAATGCTCATAAAAGGACTGTTCCCGCGGCCCCAAGGTGCCTGTTGTTCACACTTAAGGGAAGTTTATAAAGCTACTGGCCCCAGATGCTCAGGGTAAGGAGCACCAAAGCTGAGGCTGGCTCAGAGATCTCCAGAGAAGCTGCAGCCTGCCCTGGCCCTGGCTCTGGCCCTGGCCCACATTGCACATGGAAACCCAAAGGCATATATCTGCGTATGTGTGGTACTTAGTCACATCTTTGTCAACAAACTGTTCGTTTTTAAGTTACAAATTTGAATTTAATGTTGTCATCATCGTCATGTGTTTCCCCAAAGGGAAGCCAGTCATTGACCATTTAAAAAGTCTCCTGCTAAGTATGGAAATCAGACAGTAAGAGAAAGCCAAAAAGCAATGCAGAGAAAGGTGTCCAAGCTGTCTTCAGCCTTCCCCAGCTAAAGAGCAGAGGAGGGCCTGGGCTACTTGGGTTCCCCATCGGCCTCCAGCACTGCCTCCCTCCTCCCACTGCGACTCTGGGATCTCCAGGTGCTGCCCAAGGAGTTGCCTTGATTACAGAGAGGGGAGCCTCCAATTCGGCCAACTTGGAGTCCTTTCTGTTTTGAAGCATGGGCCAGACCCGGCACTGCGCTCGGAGAGCCGGTGGGCCTGGCCTCCCCGTCGACCTCAGTGCCTTTTTGTTTTCAGAGAGAAATAGGAGTAGGGCGAGTTTGCCTGAAGCTCTGCTGCTGGCTTCTCCTGCCAGGAAGTGAACAATGGCGGCGGTGTGGGAGACAAGGCCAGGAGAGCCCGCGTTCAGTATGGGTTGAGGGTCACAGACCTCCCTCCCATCTGGGTGCCTGAGTTTTGACTCCAATCAGTGATACCAGACCACATTGACAGGGAGGATCAAATTCCTGACTTACATTTGCACTGGCTTCTTGTTTAGGCTGAATCCTAAAATAAATTAGTCAAAAAATTCCAACAAGTAGCCAGGACTGCAGAGACACTCCAGTGCAGAGGGAGAAGGACTTGTAATTTTCAAAGCAGGGCTGGTTTTCCAACCCAGCCTCTGAGAAACCATTTCTTTGCTATCCTCTGCCTTCCCAAGTCCCTCTTGGGTCGGTTCAAGCCCAAGCTTGTTCGTGTAGCTTCAGAAGTTCCCTCTCTGACCCAGGCTGAGTCCATACTGCCCCTGATCCCAGAAGGAATGCTGACCCCTCGTCGTATGAACTGTGCATAGTCTCCAGAGCTTCAAAGGCAACACAAGCTCGCAACTCTAAGATTTTTTTAAACCACAAAAACCCTGGTTAGCCATCTCATGCTCAGCCTTATCACTTCCCTCCCTTTAGAAACTCTCTCCCTGCTGTATATTAAAGGGAGCAGGTGGAGAGTCATTTTCCTTCGTCCTGCATGTCTCTAACATTAATAGAAGGCATGGCTCCTGCTGCAACCGCTGTGAATGCTGCTGAGAACCTCCCTCTATGGGGATGGCTATTTTATTTTTGAGAAGGAAAAAAAAAGTCATGTATATATACACATAAAGGCATATAGCTATATATAAAGAGATAAGGGTGTTTATGAAATGAGAAAATTATTGGACAATTCAGACTTTACTAAAGCACAGTTAGACCCAAGGCCTATGCTGAGGTCTAAACCTCTGAAAAAAGTATAGTATCGAGTACCCGTTCCCTCCCAGAGGTGGGAGTAACTGCTGGTAGTGCCTTCTTTGGTTGTGTTGCTCAGTGTGTAAGTGTTTGTTTCCAGGATATTTTCTTTTTAAATGTCTTTCTTATATGGGTTTTAAAAAAAAGTAATAAAAGCCTGTTGCAAAAATGACTCATGTTAGAAACGTCTCCCTTGAACTTCACCATCTTACGGACACTGGGAGCGGGGGAGAGAGGGTGAGAATGGACATGATCACATGCTTCCTGGTGGAGTCAGATTTTCTTTTGCCAGTGAGCAGAGAAATGAAGGCTACTGTTCAAATAATTTGGGAAAAATTGTCCAAA)$ MHRGGQPLKKRRGSFKMAELDQLPDESSSAKALVSLKEGSLSNTWNEKYSSLQKTPVWKGRNTSSAVEMPFRNSKRSRLFSDEDDRQINTRSPKRNQRVAMVPQKFTATMSTPDKKASQKIGFRLRNLLKLPKAHKWCIYEWFYSNIDKPLFEGDNDFCVCLKESFPNLKTRKLTRVEWGKIRRLMGKPRRCSSAFFEEERSALKQKRQKIRLLQQRKVADVSQFKDLPDEIPLPLVIGTKVTARLRGVHDGLFTGQIDAVDTLNATYRVTFDRTGLGTHTIPDYEVLSNEPHETMPIAAFGQKQRPSRFFMTPPRLHYTPPLQSPIIDNDPLLGQSPWRSKISGSDTETLGGFPVEFLIQVTRLSKILMIKKEHIKKLREMNTEAEKLKSYSMPISIEFQRRYATIVLELEQLNKDLNKVLHKVQQYCYELAPDQGLQPADQPTDMRRRCEEEAQEIVRHANSSTGQPCVENENLTDLISRLTAILLQIKCLAEGGDLNSFEFKSLTDSLNDIKSTIDASNIs|gmpspslnfrts* 01BR009 ENSG00000100814.18 ENSG00000100612.14 -/- -/- chr14:20325539 chr14:60156152 5'UTR/splice-site CDS/splice-site duplication 57 37 3 326 198 high . . |short_chain_dehydrogenase(100%) . . ENSG00000100814.18 ENSG00000100612.14 ENST00000437553.6 ENST00000216500.9 upstream downstream duplicates(9),mismatches(1) ^(ACTTCCCAAGGCGACTTCCTGTCTCTCCACTTTCTTTCCCTCTCCGTTTTGGTGGGCTG___GTTGAAGATGAAATCCACTGAGGAGGGAAGTCCAGCACCCTGTGTGCCAGTCCAGAAC)TGGCCCATCTGTAGACCCCCTGAAAATCATATGGGCTTGGATTTGGATATTCTCAACAGAAAGGGTTAAAGGCTGATGGTACCTAAAGCCTGGTACTTGAATTTTGATCAAGATAAGCTGCCTTAAGTTCTCTTCATTACAC___AAATGATCCTAGATAATTGATAGATCCTGTGGTTCAACTGGATTTCTAGATAGAAGCTGGATTCATGTGATGCCAGAG___GAGTAAAATTTCAAGAGACTGAAACCAGATCTGAGTTTCGCTGTTCCAGTCTGGACCTCTTTGGTGCTGTAAATCCTGGATATACTGTAGATGAGTACTGCGTTTTTCTTTTATG|AATGGGAGCTGACTGATATGGTGGTGTGGGTGACTGGAGCCTCGAGTGGAATTGGTGAGGAGCTGGCTTACCAGTTGTCTAAACTAGGAGTTTCTCTTGTGCTGTCAGCCAGAAGAGTGCATGAGCTGGAAAGGGTGAAAAGAAGATGCCTAG___AGAATGGCAATTTAAAAGAAAAAGATATACTTGTTTTGCCCCTTGACCTGACCGACACTGGTTCCCATGAAGCGGCTACCAAAGCTGTTCTCCAGGAGTTTGGTAGA___ATCGACATTCTGGTCAACAATGGTGGAATGTCCCAGCGTTCTCTGTGCATGGATACCAGCTTGGATGTCTACAGAAAGCTAATAGAGCTTAACTACTTAGGGACGGTGTCCTTGACAAAATGTGTTCTGCC(TCACATGATCGAGAGGAAGCAAGGAAAGATTGTTACTGTGAATAGCATCCTGGGTATCATATCTGTACCTCTTTCCATTGGATACTGTGCTAGCAAGCATGCTCTCCGG___GGTTTTTTTAATGGCCTTCGAACAGAACTTGCCACATACCCAGGTATAATAGTTTCTAACATTTGCCCAGGACCTGTGCAATCAAATATTGTGGAGAATTCCCTAGCTGGAGAAGTCACAAAG___ACTATAGGCAATAATGGAGACCAGTCCCACAAGATGACAACCAGTCGTTGTGTGCGGCTGATGTTAATCAGCATGGCCAATGATTTGAAAGAAGTTTGGATCTCAGAACAACCTTTCTTGTTAGTAACATATTTGTGGCAATACATGCCAACCTGGGCCTGGTGGATAACCAACAAGATGGGGAAGAAAAGGATTGAGAACTTTAAGAGTGGTGTG___GATGCAGACTCTTCTTATTTTAAAATCTTTAAGACAAAACATGACTGAAAAGAGCACCTGTACTTTTCAAGCCACTGGAGGGAGAAATGGAAAACATGAAAACAGCAATCTTCTTATGCTTCTGAATAATCAAAGACTAATTTGTGATTTTACTTTTTAATAGATATGACTTTGCTTCCAACATGGAATGAAATAAAAAATAAATAATAAAAGATTGCCATGAATCTTGCAAAAAAGGTATTAACTCATACTATATTCTTGGATAAAATAACCTTTTAAAATACTTTAGCACATATGCTTAAAATCTAAGTTAACAGATTTGTCTTAGTCCATTTGTGCTGCTATAACAAAATACCACAGATTTGGTAATTTATAAACAACAGAAATCTGTTTTTCCTGGCTCTTGAGGCTGGGAATTCCAAGACCAATGCACCAGCAGAATTAGTGTCTGGTGAAGGCTGATCTCTGCTTCCAAGATGGCACCTCATTGCTGCATCCTCCACAGTGGAGGAATGTATGTCCTCACATGGTGGAAGGGACAGAAGGGAAAGAGGAGCAAAATGCTTTCAAAAGAGCATTTAATCTCATTCATTACTCAGTCACCTCTTAAAGGCCACATCCTTTAATACTGTTGCTTTGGGGATTAAGTTTCGACATGAATTTTGGAGGGGACAAAAACATCCAAACCATAGCAACATAAATGTATAGAATATTTCACACAAAGCAGAGTGCTGGGTAATGACCAGATATAAAGAAGTATTTGAAATGACCTTACCTCCAAGATGCTTATACTCTTAGAAAAGTTGACAGGTACAGATGGCTGTAATTTGAAGCAGCAGGTAGGATTCATTGCACCTATTATTCATTAAACACCTGTTGTATGTCTTCTACTGT)$ . 01BR009 ENSG00000152601.17 ENSG00000090530.10 +/+ -/+ chr3:152269092 chr3:190083181 5'UTR/splice-site intron deletion/5'-5' 27 16 5 135 106 high out-of-frame . . . . ENSG00000152601.17 ENSG00000090530.10 ENST00000282486.10 . downstream upstream duplicates(8),low_entropy(1) ^(TTACATCTTATAGCACCCAGTGAATTATGATATGGGGCTGCGGTTTATTTGCTCTGGCGACAATATGGCTTACTTGCCGTGGAATATCCCGGTATTTCAGAAGTAACATATTATTTTTAAAGAGGGAGCTTTGCTTTCTCTAAATCACATGGTGCAAAGTTGGGAATACAGTGGCCTGTAAATTACAAATATTATTTACAAACTAGAAGGAAAGCTGACATGTGTTTGTGCCTGTGTGACAGTTTCACTAAGGAATTCCAAAACTGTGGATAGCCTGTTACTTGAGAAAAATACACGGTGGCAGTCTTGCAGATGTTTTTCCCGCCTGTTAGCCCTCCAGGTTCAAAAACTGTTTGGTGCATTTTAAGGCGGCAGTCTCACCAGATCGCAGGATTCTAGTCTAATTGGCTTCTAACCTTCAATCTAACCTTGCCGGCTTCCTTGCAAAGCCCGGTGCAAGGGCCTCTTTCAAAATGAACCCACTGGTGTGCCTAGCAGTCGGTAGAAGAAGCGGGAGGGCGTCCGGTCTGCACGCCCGCCGCGAGGTTACAATGCTGAACGCATGAGATGGAAGATACCAACGGGAGGCCGAGGGGATCCACGGCGCCCGCGCGGGCTCCGGCTTCCTCCTGCTCTCGGCGCCGCTGGGCGACCGCCCATGACCCGCTCTTGCGGGCTCTGTCCGGTTGACAGGCGACCCTGTGGCCCGGGGAAGCGCGGGAGGGCGCCGGCGGAAAGTTGAAGAGCGTTTTTCTCGCCGCCGCGTGCATTAGGAGCTCGACGAGTCCGCCCTGGGCTTCCTGGTGGGGCTGGGCGGGCGGGGGAGGGGCCGCGCAGCAGCAGCGGAAGCCAGACCTCGG)CGATAAGAGGCTGCACAGCGACATGCAACAGTCTTTTCACTGCAGCTGAATGAGTTGTGGCGCCCACAATGCTCCCATGACAAGGAGCTGACAAGTTCCATTTTCCGTCGCGGGCATCTTGGAATCATGACTCCCACAATGCCTTGGGCACTTGGTCGACAGTGGGGCCGCCTCTGAAAAAAAAATGTGAGAG|CCTAACTTACCAAGAAGACATATGGTCTGAAAAATGCAAAACATCTTATTTTACGGGAAAGACCTGCAGAAGGGATGGGATGTTCACAGTGGATTTCTAACAAAGAGGAAACACCACAGCCATCAGAAGTGTTAGAGAAGAAGTTGTGCCTTATCCACATCAAAGAAGGAAAATCCACACCCTTTCTATTTTGGATAAGGAAAAGACTCAACTCCTGGTGTGTGCTTTTTGGCTAAAAACTACAGCCTATATAAATTTCCTAAAGACTGG-AAAAAATTTGCATGTATGAAA pnlprrhmv* 01BR009 ENSG00000104447.12 ENSG00000277855.1 -/- +/+ chr8:115619132 chr3:71627638 CDS/splice-site intron translocation 16 20 1 148 71 high out-of-frame . . . . ENSG00000104447.12 ENSG00000277855.1 ENST00000395715.7 ENST00000613067.1 upstream upstream duplicates(6),inconsistently_clipped(1),mismappers(4),mismatches(2) ^(AATAGTGTTGGTGTCTTGAAACTGACGTAATGCGCGGAGACTGAGGTCCTGACAAGCGATAACATTTCTGATAAAGACCCGATCTTACTGCAATCTCTAGCGTCCTCTTTTTTGGTGCTGCTGGTTTCTCCAGACCTCGCGTCCTCTCGATTGCTCTCTCGCCTTCCTATTTCTTTTTTTTTTTTTTAAACAAAAAACAACACCCCCTCCCCTCTCCCACCCGGCACCGGGCACATCCTTGCTCTATTTCCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTTTTAATAAGGGTGGGGGAGGGAAAGGGGGGGGAGGCAGGAAAGACCTTTTTCTCTCCCCCCCGCAATAATCCAAGATCAACTCTGCAAACAACAGAAGACGGTTCATGGCTTTGGCCGCCGCGCCACCATCTTTCGGGCTGCCGAGGGTGTTCTTGACGATTAATCAACAG___ATGTACAGATCAGCTCTCAAAATGTCTTCTGTGTCTTCTGAGCGTCTTCTAAGACAATTGCATTAGCCTCCTGCTAGTTGACTAATAGAATTAATAATTGTAAAAAGCACTCTAAAGCCACATGCCTTATGAAGTCAATGCTGGGTATGATTTTACAA___ATATGGTCCGGAAAAAGAACCCCCCTCTGAGAAACGTTGCAAGTGAAGGCGAGGGCCAGATCCTGGAGCCTATAGGTACAGAAAGCAAGGTATCTGGAAAGAACAAAGAATTTTCTGCAGATCAGATGTCAGAAAATACGGATCAGAGTGATGCTGCAGAACTAAATCATAAGGAGGAACATAGCTTGCATGTTCAAGATCCATCTTCTAGCAGTAAGAAGGACTTGAAAAGCGCAGTTCTGAGTGAGAAGGCTGGCTTCAATTATGAAAGCCCCAGTAAGGGAGGAAACTTTCCCTCCTTTCCGCATGATGAGGTGACAGACAGAAATATGTTGGCTTTCTCATCTCCAGCTGCTGGGGGAGTCTGTGAGCCCTTGAAGTCTCCGCAAAGAGCAGAGGCAGATGACCCTCAAGATATGGCCTGCACCCCCTCAGGGGACTCACTGGAGACAAAGGAAGATCAGAAGATGTCACCAAAGGCTACAGAGGAAACAGGGCAAGCACAGAGTGGTCAAGCCAATTGTCAAGGTTTGAGCCCAGTTTCAGTGGCCTCAAAAAACCCACAAGTGCCTTCAGATGGGGGTGTAAGACTGAATAAATCCAAAACTGACTTACTGGTGAATGACAACCCAGACCCGGCACCTCTGTCTCCAGAGCTTCAGGACTTTAAATGCAATATCTGTGGATATG)GTTACTACGGCAACGACCCCACAGATCTGATTAAGCACTTCCGAAAGTATCACTTAGGACTGCATAACCGCACCAGGCAAGATGCTGAGCTGGACAGCAAAATCTTGGCCCTTCATAACATGGTGCAGTTCAGCCATTCCAAAGACTTCCAGAAGGTCAACCGTTCTGTGTTTTCTGGTGTGCTGCAGGACATCAATTCTTCAAGGCCTGTTTTACTAAATGGGACCTATGATGTGCAG|TAGAGACGGGGTTTCTCCATGTTGGCCAGAATGGTCTTGAACTCCAGACCTCCAGTGATTTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACATGCGTGAGCCACCACGCCCGCCTCCTGTCCACAATCTAACTGTCAAACAAAG___ATGGGCTAATTAAACGGATGCCAACTAATCGGAAAACTTCTGGAATTGCCGTCCCTGGAAATCCTAGCAAGAC(ACAGGACCCAGAATCCTCCCCATTAATATTGACGCTGTAGTGACCAATCACCATTAAGAGGTGCCAGAAAGGAACTGGAACTGGCAAGTAGTCAGGTCTTTCAGCGGCACCCCCAGAAATCCTGTCCTATAAATGGTACTTCACTCTAATGCAAACTTTGCTAAATGTTTTAACCTTGTTGTGTAACGCGGGGGTAAAAAGAGTACTTGATAGGGTTAACACATATAATGCATTTAGAAGAGCAATTCGCAGGTGGTTAACATCTGTAACATTTGCTATTATTATTATTGGTAGTAAAAATTATCTAGCATCTGTAAACACTTGCTATTATTATTGATACTAAAAGTTATCCATGAGCTTTTTTTCTTCTTCTTCTTACTATGCAAAGTTGGGATTCTGAAGTGAACAGCTGCACGGTGTTATCATCTTTCTACACATTCACACATAACAATCTTAATGATATATCACAATGAATAATTTGACGTTATTTAGCTCTCCTTACTCTGAGCTGTGGACTGCATCAAACCCAACTCGAATAGCGTTCCT)$ MPYEVNAGYDFTNMVRKKNPPLRNVASEGEGQILEPIGTESKVSGKNKEFSADQMSENTDQSDAAELNHKEEHSLHVQDPSSSSKKDLKSAVLSEKAGFNYESPSKGGNFPSFPHDEVTDRNMLAFSSPAAGGVCEPLKSPQRAEADDPQDMACTPSGDSLETKEDQKMSPKATEETGQAQSGQANCQGLSPVSVASKNPQVPSDGGVRLNKSKTDLLVNDNPDPAPLSPELQDFKCNICGYGYYGNDPTDLIKHFRKYHLGLHNRTRQDAELDSKILALHNMVQFSHSKDFQKVNRSVFSGVLQDINSSRPVLLNGTYDVQ|* 01BR009 ENSG00000104447.12 ENSG00000277855.1 -/- +/+ chr8:115619132 chr3:71627641 CDS/splice-site exon/splice-site translocation 1 1 1 148 86 high out-of-frame . . . . ENSG00000104447.12 ENSG00000277855.1 ENST00000395715.7 ENST00000613067.1 upstream upstream duplicates(3),mismatches(2) ^(AATAGTGTTGGTGTCTTGAAACTGACGTAATGCGCGGAGACTGAGGTCCTGACAAGCGATAACATTTCTGATAAAGACCCGATCTTACTGCAATCTCTAGCGTCCTCTTTTTTGGTGCTGCTGGTTTCTCCAGACCTCGCGTCCTCTCGATTGCTCTCTCGCCTTCCTATTTCTTTTTTTTTTTTTTAAACAAAAAACAACACCCCCTCCCCTCTCCCACCCGGCACCGGGCACATCCTTGCTCTATTTCCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTTTTAATAAGGGTGGGGGAGGGAAAGGGGGGGGAGGCAGGAAAGACCTTTTTCTCTCCCCCCCGCAATAATCCAAGATCAACTCTGCAAACAACAGAAGACGGTTCATGGCTTTGGCCGCCGCGCCACCATCTTTCGGGCTGCCGAGGGTGTTCTTGACGATTAATCAACAG___ATGTACAGATCAGCTCTCAAAATGTCTTCTGTGTCTTCTGAGCGTCTTCTAAGACAATTGCATTAGCCTCCTGCTAGTTGACTAATAGAATTAATAATTGTAAAAAGCACTCTAAAGCCACATGCCTTATGAAGTCAATGCTGGGTATGATTTTACAA___ATATGGTCCGGAAAAAGAACCCCCCTCTGAGAAACGTTGCAAGTGAAGGCGAGGGCCAGATCCTGGAGCCTATAGGTACAGAAAGCAAGGTATCTGGAAAGAACAAAGAATTTTCTGCAGATCAGATGTCAGAAAATACGGATCAGAGTGATGCTGCAGAACTAAATCATAAGGAGGAACATAGCTTGCATGTTCAAGATCCATCTTCTAGCAGTAAGAAGGACTTGAAAAGCGCAGTTCTGAGTGAGAAGGCTGGCTTCAATTATGAAAGCCCCAGTAAGGGAGGAAACTTTCCCTCCTTTCCGCATGATGAGGTGACAGACAGAAATATGTTGGCTTTCTCATCTCCAGCTGCTGGGGGAGTCTGTGAGCCCTTGAAGTCTCCGCAAAGAGCAGAGGCAGATGACCCTCAAGATATGGCCTGCACCCCCTCAGGGGACTCACTGGAGACAAAGGAAGATCAGAAGATGTCACCAAAGGCTACAGAGGAAACAGGGCAAGCACAGAGTGGTCAAGCCAATTGTCAAGGTTTGAGCCCAGTTTCAGTGGCCTCAAAAAACCCACAAGTGCCTTCAGATGGGGGTGTAAGACTGAATAAATCCAAAACTGACTTACTGGTGAATGACAACCCAGACCCGGCACCTCTGTCTCCAGAGCTTCAGGACTTTAAATGCAATATCTGTGGATATGGTTACTACGGCAACGACCCCACAGATCTGATTAAGCACTTCCGAAAGTATCACTTAGGACTGCATAACCGCACCAGGCAAGATGCTGAG)CTGGACAGCAAAATCTTGGCCCTTCATAACATGGTGCAGTTCAGCCATTCCAAAGACTTCCAGAAGGTCAACCGTTCTGTGTTTTCTGGTGTGCTGCAGGACATCAATTCTTCAAGGCCTGTTTTACTAAATGGGACCTATGATGTGCAG|AGACGGGGTTTCTCCATGTTGGCCAGAATGGTCTTGAACTCCAGACCTCCAGTGATTTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACATGCGTGAGCCACCACGCCCGCCTCCTGTCCACAATCTAACTGTCAAACAAAG___ATGGGCTAATTAAACGGATGCCAACTAATCGGAAAACTTCTGGAATTGCCGTCCCTGGAAATCCTAGCAAGACACAGGACCCAGAATCCTC(CCCATTAATATTGACGCTGTAGTGACCAATCACCATTAAGAGGTGCCAGAAAGGAACTGGAACTGGCAAGTAGTCAGGTCTTTCAGCGGCACCCCCAGAAATCCTGTCCTATAAATGGTACTTCACTCTAATGCAAACTTTGCTAAATGTTTTAACCTTGTTGTGTAACGCGGGGGTAAAAAGAGTACTTGATAGGGTTAACACATATAATGCATTTAGAAGAGCAATTCGCAGGTGGTTAACATCTGTAACATTTGCTATTATTATTATTGGTAGTAAAAATTATCTAGCATCTGTAAACACTTGCTATTATTATTGATACTAAAAGTTATCCATGAGCTTTTTTTCTTCTTCTTCTTACTATGCAAAGTTGGGATTCTGAAGTGAACAGCTGCACGGTGTTATCATCTTTCTACACATTCACACATAACAATCTTAATGATATATCACAATGAATAATTTGACGTTATTTAGCTCTCCTTACTCTGAGCTGTGGACTGCATCAAACCCAACTCGAATAGCGTTCCT)$ MPYEVNAGYDFTNMVRKKNPPLRNVASEGEGQILEPIGTESKVSGKNKEFSADQMSENTDQSDAAELNHKEEHSLHVQDPSSSSKKDLKSAVLSEKAGFNYESPSKGGNFPSFPHDEVTDRNMLAFSSPAAGGVCEPLKSPQRAEADDPQDMACTPSGDSLETKEDQKMSPKATEETGQAQSGQANCQGLSPVSVASKNPQVPSDGGVRLNKSKTDLLVNDNPDPAPLSPELQDFKCNICGYGYYGNDPTDLIKHFRKYHLGLHNRTRQDAELDSKILALHNMVQFSHSKDFQKVNRSVFSGVLQDINSSRPVLLNGTYDVQ|rrgfsmlarmvlnsrppviclprpskvlglha* 01BR009 ENSG00000140262.18 ENSG00000259275.4 +/+ +/+ chr15:57091891 chr15:96394307 CDS/splice-site exon/splice-site deletion 29 2 1 99 67 high out-of-frame . . . . ENSG00000140262.18 ENSG00000259275.4 ENST00000267811.9 ENST00000650802.1 downstream upstream duplicates(2),mismappers(2) ^(CGCGGAGGGATCCGGAGGCGAGCCGAGCGCGGTGGTGAGGCCGCCTCAGCGAAAAAAATGTCCGCCTGAAGAGACCCACAAGTTCTATTCGGGGGGACCGACAGCCCGCCCCGGGAGGAAGGGGCGGCCAGGCCCGAAAGCCGCCTCCCCCTCCCAGACCCGAGAGCTCGTGCGGGGCAAAGTGAACCGAGCCGCTGGGCGGTGCAAGGGGAAGCCCAAGCCCGTTCTCCCGGCCAAAGTGAACTTTAATCGGGGTGGTTGGATGCGGAGACGGGGCGGCAG___GACCTGCTAGAAGTGGCCGAAGATGAATCCCCAGCAACAACGCATGGCCGCTATAGGGACC)GACAAGGAGCTGAGCGACCTACTGGACTTCAGTGCG___ATGTTTTCCCCACCTGTTAATAGTGGGAAAACTAGACCAACTACACTGGGAAGCAGTCAATTCAGTGGATCAG___GTATTGATGAAAGAGGAGGTACAACATCTTGGGGAACAAGTGGTCAACCAAGTCCTTCCTATGATTCATCTAGA___GGTTTTACAGACAGCCCTCATTACAGTGATCACTTGAATGACAGTCGATTAGGAGCCCATGAAGGCTTGTCCCCAACACCTTTCATGAACTCAAATCTGATGG|GCTTAGTAATTCTGACTTTTGAAATCTCCTGTCGTGAACAAATCTACACTGCACTTTATTTCTTGCCCCGTCCTGGAATTCAGCCACTCCTGCACTACATTTCTTAAGGTGAAGAAGTGAAAGACGAAGACACCAATCCAAGTGAACGTGTGTTATTCTCTTCTATAATGCTATTGTATTATATTCCC(TCTTTTTTTTAAATTCTCTTGATTTCTCTGCACAAAAGAGGGAAATTCTTCCAAAGCAACGGAAAGTTTCCTTGAAATACTTTTATCTAGTCACACTTACATAGTGTAATGTCTCTCTCTTACAGCATTGTACAGTTTGGGATTTGTTTTTAATCCTGTGGAAAATGTCCTAACAGGGCTTTGGTGTATCTTTGTTCCAATTTCTACATTGCTTGGGGAGGGGGAGAAGCTTTCTTTGTATTAAATGAAATACACCACTACTTCATTAAATAAATAGACACCTCAACCATTAGTTGCTAATGAAACAAAAATCTAAGTAAAACATCTAACTATCCAAATACTACATTTTCTCTACCTTTGCCCCAAAATGTGCCTCATCTCCCTGCACCTCCAAATAATATTTCTAGTGTTTTCATTTTATTAGTTTTGCAATGTCACTGTCCAGATAGAATTATTCGATGACTTAAAACAACTTTCGTAAGATTTTCAAGCCCTAAATTAAAAAATCATATTTCAATACAA)$ MNPQQQRMAAIGTDKELSDLLDFSAMFSPPVNSGKTRPTTLGSSQFSGSGIDERGGTTSWGTSGQPSPSYDSSRGFTDSPHYSDHLNDSRLGAHEGLSPTPFMNSNLM|glviltfeiscreqiytalyflprpgiqpllhyis* 01BR009 ENSG00000140262.18 ENSG00000259275.4 +/+ +/+ chr15:57091891 chr15:96403510 CDS/splice-site exon/splice-site deletion 0 2 0 99 6 medium out-of-frame . . . . ENSG00000140262.18 ENSG00000259275.4 ENST00000267811.9 ENST00000664133.1 downstream upstream . ^(CGCGGAGGGATCCGGAGGCGAGCCGAGCGCGGTGGTGAGGCCGCCTCAGCGAAAAAAATGTCCGCCTGAAGAGACCCACAAGTTCTATTCGGGGGGACCGACAGCCCGCCCCGGGAGGAAGGGGCGGCCAGGCCCGAAAGCCGCCTCCCCCTCCCAGACCCGAGAGCTCGTGCGGGGCAAAGTGAACCGAGCCGCTGGGCGGTGCAAGGGGAAGCCCAAGCCCGTTCTCCCGGCCAAAGTGAACTTTAATCGGGGTGGTTGGATGCGGAGACGGGGCGGCAG___GACCTGCTAGAAGTGGCCGAAGATGAATCCCCAGCAACAACGCATGGCCGCTATAGGGACCGACAAGGAGCTGAGCGACCTACTGGACTTCAGTGCG___ATGTTTTCCCCACCTGTTAATAGTGGGAAAACTAGACCAACTACACTGGGAAGCAGTCAATTCAGTGGATCAG___GTATTGATGAAAGAGGAGGTACAACATCTTGGGGAACAAGTGGTCAACCAAGTCCTTCCTATGATTCATCTAGA___GGTTTTA)CAGACAGCCCTCATTACAGTGATCACTTGAATGACAGTCGATTAGGAGCCCATGAAGGCTTGTCCCCAACACCTTTCATGAACTCAAATCTGATGG|GAACAGATGTGGACTTGGGCTGTCCACCCCCACCCACTCTTGCTGAGGTGTCTCACTACTGCCCAGACATGTGAATTCATGTGAGAGCTGGTATGAGTTGTGGTCACAGGACAAAGGAGG(CTAACCGGGCATGATTCTCAACTTTGGCTTCAATCATGCCATTTTCTACCAACTAAGCCTCTAGAGTCAAACTTGAAGAACTATCACGTGGAACTCTTGAAGAATGGACTTTCTTTCCACAGTGAATACTTCATTGATTTTCGCTGGTTCCCTGAATAAAGCAGCAACAAACCCACCACCTATTTACTGAAGGCTCTGCTTCAGCCACTATGTCAAATGTGTTACACTCTTTAACTAACTTAAATATTGTCTATAACCCTTTGGGTGGTGTTGTTTCTGTTTCATGGATGAAGATGAAGATATTGACACTTCGAGGTTACAAAACTATCACCATCATTAACAGCAACAATGGTGCTTAGCTCTGATTGAGAACTTACTCTGTTCCTAAAACATGGAAAGCATGTCACAAATCTTCAAACAACTGGGTAAGCATGTCACAAATCTGCAAACAAGTTTGTAAAATAAAGACTATTAACATTCCCATTTTACAGATGAAGAAACTGAGGCCTAGAGAATTAATGATGTGCCCCATGTCACAGAATGCAGTATAGAGGTGGAGGAGGAGTTAGCTTTACTCCAAAGTCTTTTATCTTCATTGCTATAATTTCTGGCAGTGTAGCAGAGTAAAAATGAACTAAAAATTAATGTCAGGTTTATACAAATTATTTTATTAAGAAAAGAGGCCAAGTGTGGTGGCTCATGCCTATAATCCCACCACTTGGGGAGGTTGAAGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCGTTTCTACTGAAAATACAAAAATTATCCAGGTGTGTTAGTGCACAACTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCACGCCAGCCTGGGTGACGAGCAAAAACTCCATCTCAAAAAAAAAAAAAGAAGAAGAGAAGAAAAATGTTAGGACAAAGGAGAAGAACTCTAAAATCTTATGACTGGAAGCTTATAAATTATAAGTATTGAAAAATTAAACATTCCTAATAACTACAGATATCCATAAAAAGTTGCCCAAAATTAAGGGCAAATTTCTTCAGTGTCAGCAATACTGACAGCATTAGTTTCATGGTCACAGAGATTTTTGTTATTATTGTTAACATATTCCAAAATTTAACACAAATTTAATCCATGTGAAAGTAGAGCTTAGACAATAAAAGATATCAGACCTTGGGGTATTACAATGACTTTTTAAAAAAGCTTATTATCATATATTTCATTATAATAACAGGACGCCAAAACCATTAGCATGAATAATAACCTGAGATTGTAAGGATTATGTGTAAATGTGAAAGAAGAGATAATTATGTTTATATATCTAATGGTCACCCTTAGGTATTATGTGATAACATGTGGCCTTATCCACTGAGGACAAGAGGGCCATTTCCTACCTTGGATTAGGCATTCCCAGGGCGATTCTTACAGTTACCTCTTCTTTCTGTTCAGTATTTAAGCACTGTTAGTTCATCTGAGGGAATGAAAATAAAGATACTTTCTTCAAGAAAAATGAATGAAAA)$ MNPQQQRMAAIGTDKELSDLLDFSAMFSPPVNSGKTRPTTLGSSQFSGSGIDERGGTTSWGTSGQPSPSYDSSRGFTDSPHYSDHLNDSRLGAHEGLSPTPFMNSNLM|gtdvdlgcpppptlaevshycpdm* 01BR009 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 22 5 1 44 34 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520052.1 upstream downstream duplicates(2),mismappers(1) CAACTGTCGTGAGAGTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAAC?TCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAG(GAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 01BR009 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 15 9 0 83 42 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___)GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 01BR009 ENSG00000130684.14 ENSG00000170191.5 -/- -/- chr20:25685567 chr20:25616202 CDS/splice-site CDS deletion/read-through 14 9 0 104 46 high in-frame . KRAB_box(100%)| . . ENSG00000130684.14 ENSG00000170191.5 ENST00000252979.6 ENST00000304788.4 upstream downstream duplicates(2),low_entropy(2),mismappers(1) ^(GCAGAGCGTTCCAGATCCCTGGGCGTCAGCGAGCCGTGAGATGCGTGGTCCACCATCGGTGACCTCACCGCCTCGGTTCGCCCTCAGCCGCCCCG___ATTGGCCATCTGCAAGCTTCCCTTCTCCGTGGAGAGCAGGAAGACAGTCATGGGACCT)CAGGGAGCCAGGAGACAG___GCTTTCTTGGCATTTGGGGATGTCACTGTGGATTTCACCCAGAAGGAATGGAGGCTGCTGAGCCCTGCTCAGAGGGCCCTGTACAGGGAGGTGACACTGGAGAACTACAGCCACCTGGTCTCACTAG___GAATTCTCCATTCTAAACCAGAACTCATCAGGCGGCTAGAGCAAGGGGAAGTGCCCTGGGGAGAAGAGAGAAGACGCCGGCCAGGCCCCTGTGCAG|GTGGAGAGCAGAGAGAGGAGAAACCAGCACCGTCCATATTTTATTACTGCTGCAATCTTCTCGGAGTACAACCTGGGGACTGTGTGATGGTCGGTGACACATTAGAAACCGACATCCAAGGAGGCCTCAATGCAGGATTGAAAGCAACAGTCTGGATCAATAAAAATGGAATAGTGCCACTGAAGTCC(TCCCCAGTTCCGCATTACATGGTTTCTTCTGTGCTAGAGTTACCTGCTCTCTTACAAAGTATAGACTGCAAAGTCAGTATGTCCACTTAAAGCACATAAAAGGGCATGATTATGAATGTTAGAATCAATTTGCTGAGTATGAAATAAGAAAAGTTAGGGCACTCCACTTATGATAATCCAGCTCTAAGAATAATTTTACTTATGATTTAATGGCCAATATTTTGAAGGTCTTCCCAACCCTATTGCTTCTAAGTTGTAACAACCAACCATTGAGTGGTACTTATATCTGAAAATTCAGATTGCATGAATTCAGGTCAGTAGTATAGCCCAGAAAATTTAAGGAAATATATTATTTGTTAGTCTGTATCTGGAGCTTTTTAAAATTATGTTATTAATCTTTTAGTATCTTGGCTGCATAATGCCAAGCAGGATTGCTTTACACATGGATGCACAAATGTAAGGTTTATCTTCTGGCTTAAAAATAGATATTTTTAAAAAATAGATTTTCTAAAACACAGATTTATGAAAGCAAGTGAATCTGGTTAATATGAAATAAGTACTAAGTCACATGCAAATCAAGGTATTATATAGTGAAATTATTTTGCATATTTTGAAAACATAAACCATAGTTTTTGCCTACTTTGGATGTATACTTTCTTTTATGAACCTGATTTTTCTGTATGACATTTTTTTTTTTTTCAGAGGGCAGGGAGCAATTTTTCTATGGCATGTGACAGATTCCTCCAGTTAGAAAAAGCTGTTAAAATCAACACATGGTGCTCCTTTACCGTGACATTTTCTCACCTGTGCACAGTGAGCCGGTAGCTTCCTTTTAGTCTTCACCTCTCAAGGAAATGTTTTTACTGTCTTTTCCCAGACACACAGTGGGGTTGAGGGAGCTAGGCTGTTTTGCTAGAGATAATTGCAAGGCACGTGGCACTAAAAGTCATTTTTCTTCTGTGGATCCATAAGAGGAACATTTCCTCAGTGTAGCCTAACAATGCAGCCCCCAATCTGTTCCTTTTTTTTTTTGAAATGGGATCTCTGTCGCCCAGGTTGGAGTGCCATGGCACCATCTCGGCTCACTGCAACCTCTGCCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGGGTGTGTGTGACTACAAGTACACACTACCACGCCCAGCTAATGTGTGTTTTTGTAGAGATGGGATTTTGCCATGTTGCCCAGGCTGGTCTCGAATTCCTGGATTCAAGTGATCCTCCCACCTCAGCCTCCTAAAGTCCTAGGATTATAGGCATGAGCCACTGTGCCTGGCCCCCTCATCTGATAGAAAATTAGATTTTGCTATGAGCCATTTCCTGAGGGCCAATTTAATACTCGTGTGACTCTTCTTAGAGTTACCATCTGCCTTAAATTTCCTCTGTTTTTCACATTCTTGGAAATATATCATTGTTTTGCAAATTTCTATATCTAATTCAGGGTTTACCAGGAGCTTAATAATTAATGGCTACATAGCAAGGCATCGTCTTGGAACCGGAGAATTTTCTCTAGACTATTAGGCTAGACAGTCTCATGATTATACTAACCAAACCTGGAGTAAAGTGGTTGAAAAAAAAGAAAGTATAAAGGGGCTTATTAAAGTGGTTAATAAATATGATTTAGGTTGGTTTTTGATATGTTTTTCTTCCAACTGTTATATAAGAAACTACTAATGTAAAATAGTAGGCTATATGTTGGGATGTGTATAGCTATGTCTTCAAGACTAATACTCAGAGAATCAAATTGTAGATTGTACCTATCTGTGAGCCTATTTCTTTAGCCAGTTTTCTGTCTACTGCCAAGAAACAGAATTCTCTGCCTCATGCAAATGCCCTTTCGTGTTTACTTTTCGCTCTAGATTTTTAAAAATGTGATTGTGCCCTTGACTGTACCAAAGTGCTGTTGCTATAACAGTGAACATTTGTGAACAGAGGATGTTTGTAGTTTCAAATGCAGTACCCATATGACCTTGATCATATTTTAGCTATTTAAAAATTAAGTTGGAGGATTTTGGCAGAAGTAGTCACATGCATGATTGCTCTGATAGATTGGTTGGCGTGTGCTGCAGGGGGCTTGTCCTTTTAACTCTCCCACAGGATGGATGTAGGCAGTGTCACATTCATTATGCTGAGAGTGAAGGTTCATCACTCCTGTATCATGGTAGCAAATCTCAACAGGATAGCTTCTAGGATGTTAAGTGAGCAGTTCTCCAGCAGAAATGATGTAGAAGGAAAAAATTGAATAATTAAATTTCCTTGTCTTCACAGTTTGTATTCTACAGAGTACAGTAATGTATTACATTCCATTTGCACCCTTCCTTAGGGAAGAACTTTGTGGTTATCTACCTTCTGAGTGGAATGTTACAGAAAATATTTTAAAATATTGGAATAAACCTATGATTTTATTAATATTTTTTGTTTTAGAATAATATTCCTTAAAATTATGGGTGATGTTTTGTCATCTTTATTTTTTTTCAAAGTTTCCCTGTAGTGGCCTTCTCACACAAAGCCAGAGGCCCTCCCTAACACTGCTTACAGAGGTGGGCCTAGAACAGACATGAATGGACACTGCACCTGGAATACCAGCACCTGGTGGGGAGGTTTGGTTCCATGTGCACCTCCACATACAAGGCACGAACATCTCAGATCTGGGAGTGCCCAGGACCCAGTGGATGCTCAGTATTGTAGGAAAGCAGGTCTTTACCAAAGTTCTTGGTTTATTGCTTTCAAACTTCTTTGCAACCTTCAGTAAGAAACATTTTCTATCATAACCTCTTTAACACATTTATAGTGTTAGATAACACTGTAACTATATATAAATATAAATATAACACATGTATATAAATAAATATAAATATAACATTTTATAGTATAACATTAATATGTGTATGGGATCCAGTTTTATATGTTTAATTTTCATAAAACATTCTTGTTACGTGTGATGATATTTTTCATTCCATTCTTTTTTGAATTAGGGAATATATTCATTGTTGAACAAGTACTACTTGTAGTACACAAGTCAAAAAAATAAAAGGGTGAATGGTGAAAA)$ MGPQGARRQAFLAFGDVTVDFTQKEWRLLSPAQRALYREVTLENYSHLVSLGILHSKPELIRRLEQGEVPWGEERRRRPGPCA|gGEQREEKPAPSIFYYCCNLLGVQPGDCVMVGDTLETDIQGGLNAGLKATVWINKNGIVPLKSSPVPHYMVSSVLELPALLQSIDCKVSMST* 01BR009 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 7 0 17 20 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1) GAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGG(ACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR009 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 4 0 110 57 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGC)AGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR009 ENSG00000198668.13 ENSG00000275198.1(1383),ENSG00000198668.13(7673) +/+ ./+ chr14:90403968 chr14:90389356 CDS/splice-site intergenic duplication 9 6 0 992 16 high out-of-frame . EF-hand_domain(100%),EF-hand_domain_pair(100%)| . . ENSG00000198668.13 . ENST00000356978.9 . downstream upstream duplicates(1) ^(GGCAGTGGTGCTGGGAGTGTCGTGGACGCCGTGCCGTTACTCGTAGTCAGGCGGCGGCGCAGGCGGCGGCGGCGGCATAGCGCACAGCGCGCCTTAGCAGCAGCAGCAGCAGCAGCGGCATCGGAGGTACCCCCGCCGTCGCAGCCCCCGCGCTGGTGCAGCCACCCTCGCTCCCTCTGCTCTTCCTCCCTTCGCTCGCACCATG___GCTGATCAGC)TGACCGAAGAACAGATTGCTG___AATTCAAGGAAGCCTTCTCCCTATTTGATAAAGATGGCGATGGCACCATCACAACAAAGGAACTTGGAACTGTCATGAGGTCACTGGGTCAGAACCCAACAGAAGCTGAATTGCAGGATATGATCAATGAAGTGGATGCTGATG___GTAATGGCACCATTGACTTCCCCGAATTTTTGACTATGATGGCTAGAAAAATGAAAGATACAGATAGTGAAGAAGAAATCCGTGAGGCATTCCGAGTCTTTGACAAG|GAAGCAGAGGATGGATCCAGTTATGTGAAAGTCTGAAGAAAATTGCCAAAGGATGGGTCAGCCAAGGTATACGCTTGCTCGTGACTGTAGAAGGATACAGGTTGGGATCAAAGCAGGGATAGTTCAGGATGTTCCTCAGGAGGTGTGGCCTCCCACCTTGCTTTCAGAATTAAAG MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDK|eaedgssyvkv* 01BR009 ENSG00000171469.11 ENSG00000134121.10 -/- +/+ chr19:9619432 chr3:244613 CDS/splice-site 5'UTR/splice-site translocation 7 6 1 50 10 high out-of-frame . |Bravo-like_intracellular_region(100%),Fibronectin_type_III_domain(100%),Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%) . . ENSG00000171469.11 ENSG00000134121.10 ENST00000302851.8 ENST00000256509.7 upstream upstream duplicates(3) ^(CTTTTCCGGCGCT)GGCTCCTCTCCGTCAGTGCGGTTTCGCCTTTATGGTGGTGGAGTCTGCCCAGGCTGTG___GACCGCAAATAACCCTGTACAAAGAGGAATGGAGATTGCCTCTATCCACCTAGATTCATAAGCTGGCCTGAGGTGATCTTGGCATCAAGGAAGGGATGCACATCATCACACCATCAGCTTCAGAGAATGGCAGCCATTTATTTGTCCCGTG|GTGCTGTAAACTGCAAACCATAATCCTGTCTTAATACTGCAAACAAATCATAGTGGAACTAAGGGGAACTTAATTTACTG(___TTTCCAGGTTAACTAAGGTCTCAGCTGTAAACCAAAAGTGAGAGGAGACATTAAGATTTTCATTCTTACCGGGTTGTCTTCTTCCTGAAGAGCAATGGAGCCGCTTTTACTTGGAAGAGGACTAATCGTATATCTAATGTTCCTCCTGTTAAAATTCTCAAAAGCAATTGAAATACCATCTTCAG___TTCAACAGGTTCCAACAATCATAAAACAGTCAAAAGTCCAAGTTGCCTTTCCCTTCGATGAGTATTTTCAAATTGAATGTGAAGCTAAAGGAAATCCAGAACCAAC___ATTTTCGTGGACTAAGGATGGCAACCCTTTTTATTTCACTGACCATCGGATAATTCCATCGAACAATTCAGGAACATTCAGGATCCCAAACGAGGGGCACATATCTCACTTTCAAGGGAAATACCGCTGCTTTGCTTCAAATAAACTGGGAATCGCTATGTCAGAAGAAATAGAATTTATAGTTCCAA___GTGTTCCAAAATTCCCAAAAGAAAAAATTGACCCTCTTGAAGTGGAGGAGGGAGATCCAATTGTCCTCCCATGCAATCCTCCCAAAGGCCTCCCACCTTTACACATTTATTGGATGAATATTG___AATTAGAACACATCGAACAAGATGAAAGAGTATACATGAGCCAAAAGGGAGATCTATACTTCGCAAACGTGGAAGAAAAGGACAGTCGCAATGACTACTGTTGCTTTGCTGCATTTCCAAGATTAAGGACTATTGTACAGAAAATGCCAATGAAACTAACAGTTAACAGTT___TAAAGCATGCTAATGACTCAAGTTCATCCACAGAAATTGGTTCCAAGG___CAAATTCCATCAAGCAAAGAAAACCCAAACTGCTGTTGCCTCCCACTGAGAGTGGCAGTGAGTCTTCAATTACCATCCTCAAAGGGGAAATCTTGCTGCTTGAGTGTTTTGCTGAAGGCTT___GCCAACTCCACAGGTTGATTGGAACAAAATTGGTGGTGACTTACCAAAGGGGAGAGAAACAAAAGAAAATTATGGCAAGACTTTGAAGATAGAGAATGTCTCCTACCAGGACAAAGGAAATTATCGCTGCACAGCCAGCAATTTCTTGGGAACAGCCACTCACGATTTTCACGTTATAGTAGAAG___AGCCTCCTCGCTGGACAAAGAAGCCTCAGAGTGCTGTGTATAGCACCGGAAGCAATGGCATCTTGTTATGTGAGGCTGAAGGAGAACCTCAACCCACAATCAAGTGGAGAGTCAATGGCTCCCCAGTTGACA___ATCATCCATTTGCTGGTGATGTTGTCTTCCCCAGGGAAATCAGTTTTACCAACCTTCAACCAAATCATACTGCTGTGTACCAGTGTGAAGCCTCAAATGTCCATGGAACTATCCTTGCCAATGCCAATATTGATGTTGTGG___ATGTCCGTCCATTGATACAAACCAAAGATGGAGAAAATTACGCTACAGTGGTTGGGTACAGTGCTTTCTTACATTGCGAGTTCTTTGCTTCACCTGAGGCAGTCGTGTCCTG___GCAGAAGGTGGAAGAAGTGAAACCCCTGGAGGGCAGGCGGTATCATATCTATGAAAATGGCACATTGCAGATCAACAGAACCACCGAAGAAGATGCTGGGTCTTACTCATGTTGGGTAGAAAATGCTATAGGAAAAACTGCAGTCACAGCCAATTTGGATATTAGAA___ATGCTACAAAACTTAGAGTTTCTCCTAAGAATCCTCGTATCCCCAAATTGCATATGCTTGAATTACATTGTGAAAGCAAATGTGACTCACATTTGAAACACAGTTTGAAGTTGTCCTGGAGTAAAGATGGAGAAGCCTTTGAAATTAATGGCACAGAAGATGGCAG___GATAATTATTGATGGAGCTAATTTGACCATATCTAATGTAACTTTAGAGGACCAAGGTATTTACTGCTGTTCAGCTCATACTGCTCTAGACAGTGCTGCCGATATAACTCAAGTAACTGTTCTTG___ATGTTCCGGATCCACCAGAAAACCTTCACTTGTCTGAAAGACAGAACAGGAGTGTTCGGCTGACCTGGGAAGCTGGAGCTGACCACAACAGCAATATTAGCG___AGTATATTGTTGAATTTGAAGGAAACAAAGAAGAGCCTGGAAGGTGGGAGGAACTGACCAGAGTCCAAGGAAAGAAAACCACAGTTATCTTACCTTTGGCTCCATTTGTGAGATACCAGTTCAGGGTCATAGCCGTGAACGAAGTAGGGAGAAGTCAGCCTAGCCAGCCGTCAGACCATCATGAAACACCACCAGCAG___CTCCAGATAGGAATCCACAAAACATAAGGGTTCAAGCCTCTCAACCCAAGGAAATGATTATAAAGTGGGAG___CCTTTGAAATCCATGGAGCAGAATGGACCAGGCCTAGAGTACAGAGTGACCTGGAAGCCACAGGGAGCCCCAGTGGAGTGGGAAGAAGAAACAGTCACAAACCACACATTGCGGGTGATGACGCCTGCTGTCTATGCCCCTTATGATGTCAAGGTCCAGGCTATCAATCAACTAGGATCTGGGCCTGACCCTCAGTCAGTGACTCTCTATTCTGGAGAAGACT___ATCCTGATACAGCTCCAGTGATCCATGGGGTGGACGTTATAAACAGTACATTAGTTAAAGTTACCTGGTCAACAGTTCCAAAGGACAGAGTACATGGACGTCTGAAAGGCTATCAG___ATAAATTGGTGGAAAACAAAAAGTCTGTTGGATGGAAGAACACATCCCAAAGAAGTGAACATTCTAAGATTTTCAGGACAAAGAAACTCTGGAATGGTTCCTTCCTTAGATGCCTTTAGTGAATTTCATTTAACAGTCTTAGCCTATAACTCTAAAGGAGCTGGTCCTGAAAGTGAGCCTTATATATTTCAAACACCAGAAGGAG___TACCTGAACAGCCAACTTTTCTAAAGGTCATCAAAGTTGATAAAGACACTGCCACTTTATCTTGGGGACTACCTAAGAAATTAAATGGAAACTTAACTGGCTATCTTTTGCAATATCAGATAA___TAAATGACACCTACGAGATTGGAGAATTAAATGATATTAACATTACAACTCCATCAAAGCCCAGCTGGCACCTCTCAAACCTGAATGCAACTACCAAGTACAAATTCTACTTGAGGGCTTGCACTTCACAGGGCTGTGGAAAACCGATCACGGAGGAAAGCTCCACCTTAGGAGAAGGGA___GTAAAGGTATCGGGAAGATATCAGGAGTAAATCTTACTCAAAAGACTCACCCAATAGAGGTATTTGAGCCGGGAGCTGAACATATAGTTCGCCTAATGACTAAGAATTGGGGCGATAATGATAGCATTTTTCAAGATGTAATTGAGACAAGAGGGAGAG___AATATGCTGGTTTATATGATGACATCTCCACTCAAGGCTGGTTTATTGGACTGATGTGTGCGATTGCTCTTCTCACACTACTATTATTAACTGTTTGCTTTGTGAAGAGGAATAGAGGTGGAAAGTACTCAG___TTAAAGAAAAGGAAGATTTGCATCCAGACCCAGAAATTCAGTCAGTAAAAGATGAAACCTTTGGTGAATACAG___TGACAGTGATGAAAAGCCTCTCAAAGGAAGCCTTCGGTCCCTTAATAGGGATATGCAGCCTACTGAAAGTGCTGACAGCTTAGTCGAATACGGAGAGGGAGACCATGGTCTCTTCAGTGAAGATGGATCATTTATTGGTGCCTACGCTGGATCTAAGGAGAAGGGATCTGTTGAAAGCAATGGAAGTTCTACAGCAACTTTTCCCCTTCGGGCATAAACACAACATATGTAAGCAACGCTACTGGTTCACCCCAACCTTCCATATTTATCTGTTCAAAGGAGCAAGAACTTTCATATAGGAATAGAAACATGCTGGCCGAAGATTTCATCCAGAAGTCAACATCCTGCAATTATGTTGAAAAGAGTAGTACTTTCTTCAAAATATAAAATGCCAAGCACTTCAGGCCTATGTTTTGCTTATATTGTTTTCAGGTGCTCAAAATGCAAAACACAAAACAAATCCTGCATTTAGATACACCTCAACTAAATCCAAAGTCCCCATTCAGTATATTCCATATTTGCCTGATTTTACTATTCGGTGTGTTTGCATAGATGTTGCTACTTGGTGGGTTTTTCTCCGTATGCACATTGGTATACAGTCTCTGAGAACTGGCTTGGTGACTTTGCTTCACTACAGGTTAAAAGACCATAAGCAAACTGGTTATTTAAAATGTAAAAAGGAATATGAAAGTCTTATTAAAACACTTCATTGAAAATATACAGTCTAAATTTATTATTTAAATTTTACTAGCAAAAGTCTTAGGTGAACAATCAACTAGTATTTGTTGAGCTCCTATTTGCCCAGAGATGGTCATATTTAAACAGAAGTATACGTTTTTCAGTTTCAACATGAATTTTTTTATTTCTGTCAGTTATGACATCCACAAGCATCACTTTTTGTGTCTGTTTTTTTTTTTTTTCTTGGACTAAATTCAACTGCATGGAAGCGGTGGTCAGAAGGTTGTTTTATACGAGAACAGGCAGAAAGTGCCCATTGTTCAGGATTCTAATAGCTACATCTACTTAATATCTTCATTTCTAAATTGACTGCTTTTACCTTTTTCTCATGTTTATATAATGGTATGCTTGCATATATTTCATGAATACATTGTACATATTATGTTAATATTTACACAATTTAAAATATAGATGTGTTTTATTTTGAAGTGAGAAAATGAACATTAACAGGCATGTTTGTACAGCTAGAATATATTAGTAAGATACTGTTTTTCGTCATTCCAGAGCTACAACTAATAACACGAGGTTCCAAAGCTGAAGACTTTGTATAAAGTATTTGGGTTTTGTTCTTGTATTGCTTTCTTTCAACAGTTTCAAAATAAAATATCATATAAATATTGAGGGAAATGTTTTCATATTTTTCAAAATAGGTTTTTATTGTTGAATGTACATCTACCCCAGCCCCTCAAAAGAAAAACTGTTTACATAGAAATTCCTACACATACGTTTGCGTATATGTTATTTTAAACATCTTTGTGGTGAGAATTTTTTCCCCGATATTCTCCTTCTGTCAAAGTCAGAACAAATTCAGGGAATTTATTTTCTGGCAGTTGTGCTCCAGTCCTTTTAAAATTGTACATGAACATGTTTTAGAAACAATATGGAGGATGATGCATACATGTCGGTCAAGTTCAGCGCTCGACATTTTATGGAAAGATTTTTTTAACCTTACCACGAAATACTTAACTACTGTTTAAGTGAATTGACTTATTTCACTTTAGTTTTTGAACTGTGATTATTGGTATACTGTTATATCCTCAACTTGGATTTATGGTAACCCCTTATAGTTCATGGAGACCAAAATTTGGGGTATTTATAATAGTCAGCGCAGGAATGCACATGGAATATCTACTTGTCCTTTTGAACCTCACGAGTCATCCAGAATGTATAGACAGGAAAAGCATGTCTTATTTAAAACTGTAATTTATGGGCTCAGGATCTGACCGCAGTCCCGGGAGTAAGCATTTCAAAGGGGGAAGGCAGTGTGGTCCCTACCCTGTGTGAATGTGAGGATGTAGACATCCATCAGTGCAACTCGAGCTCCATCCTCCTCCGATTTCTAAGGTTCCAGTTTTCTGGAGGGACAGTCATCATGTTTTGATTTATCTGGGAGAAAACTGTGGTGCACAGCTTGTGAGGAGGGCAAGGTTGTGACGTTCGAGCTTAGTTCTGGTGTTATTCTGTCTCCTCTTCTTTGTCATCAGCCAAAACGTGGTTTTTAAAGAGAGTCATGCAGGTTAGAAATAATGTCAAAAATATTTAGGAATTTAATAACCTTTAAGTCAGAAACTAAAACAAATACTGAAATATTAGCTCTTCCTACACTTCGTGTTCCCCTTTAGCTGCCTGAAAATCAAGATTGCTCCTGCTCAGATCTTCTGAGTGGCTAAAACTTATGGATATGAAAAATGAGATTGAATGATGACTATGCTTTGCTATCATTGTTACCTTTCCTCAATACTATTTGGCAACTACTGGGACTCTTCAGCACAAAAGGAATAGATCTATGATTGACCCTGATTTTAATTGTGAAATTATATGATTCATATATTTTATGAATCAGAATAACCTTCAAATAAAATAAATCTAAGTCGGTTAAAATGGATTTCATGATTTTCCCTCAGAAAATGAGTAACAGAGTCCACGGCGTGCAATGGTAATTATAAATTGGTGATGCTTGTTTGCAAATTGCCCACTCGTGATAAGTCAACAGCCAATATTTAAAACTTTGTTCGTTACTGGCTTTACCCTAACTTTCTCTAGTCTACTGTCAATATCATTTTAATGTAATTGATTGTATATAGTCTCAAGAATGGTTGGTGGGCATGAGTTCCTAGAGAACTGTCCAAGGGTTGGGAAAATCCAAATTCTCTTCCTGGTTCCAGCACTGATTTTGTACATAAACATTAGGCAGGTTGCTTAACCTTTTTATTTCAAACTCTCTCAACTCTAAAGTGCTAATAATAATCTCAGTTACCTTATCTTTGTCACAGGGTGTTCTTTTTTATGAAGAAAAATTTGAAAATGATAAAAGCTAAGATGCCTTCTAACTTCATAAGCAAACCTTTAACTAATTATGTATCTGAAAGTCACCCCCACATACCAACTCAACTTTTTTCCTGTGAACACATAAATATATTTTTATAGAAAAACAAATCTACATAAAATAAATCTACTGTTTAGTGAGCAGTATGATTTGTACATGCCATTGAAAATTATTAATCAGAAGAAAATTAAGCAGGGTCTTTGCTATACAAAAGTGTTTTCCACTAATTTTGCATGCGTATTTATAAGAAAAATGTGAATTTGGTGGTTTTATTCTATCGGTATAAAGGCATTGATATTTTAGATGCACCCGTGTTTGTAAAAATGTAGAGCACAATGGAATTATGCTGGAAGTCTCAAATAATATTTTTTTCCTATTTTATACTCATGGAAGAGATAAGCTAAAGAGGGGACAATAATGAGAAATGTTGGTGTGCTTTTCTAAGCATTTAAAACATAATTGCCAATTGAAACCCTAAATATGTTTACATACCATTAAGATATGATTCATGTAACAATGTTAAATTAATTATAATGGGATTGGGTTTGTTATCTGTGGTAGTATATATCCTAGTGTTCCTATAGTGAAATAAGTAGGGTTCAGCCAAAGCTTTCTTTGTTTTGTACCTTAAATTGTTCGATTACGTCATCAAAAGAGATGAAAGGTATGTAGAACAGGTTCACGTGATTACCTTTTTCTTTTGGCTTGGATTAATATTCATAGTAGAACTTTATAAAACGTGTTTGTATTGTAGGTGGTGTTTGTATTATGCTTATGACTATGTATGGTTTGAAAATATTTTCATTATACATGAAATTCAACTTTCCAAATAAAAGTTCTACTTCATGTAATCCAAAAA)$ MAAIYLSR|gavnckp* 01BR009 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 7 5 0 25 26 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(2) CTTTGCTGCTTTGGGCCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG(___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 01BR009 ENSG00000204217.15 ENSG00000155760.2(5482),ENSG00000182329.14(29328) +/+ ./+ chr2:202532732 chr2:202043927 CDS/splice-site intergenic duplication 1 8 0 42 17 high out-of-frame . Activin_types_I_and_II_receptor_domain(100%),Protein_kinase_domain(100%)| . . ENSG00000204217.15 . ENST00000374580.10 . downstream upstream . ^(GACTCCCCCCTTTGTGTCTGGTCTGCTCGGAGCCACTGGAAGTGCCTCCCGGAGGGACGCAGGGTGTCTCGCCGCCTCCCTGCCCACCCCCTTCCCCGGCTACCTTCATCCGCCCTCCCGCCGCCCCCCGCCCTCGGTCCGCGACGCCCGAGTTCCGTCAGGAGCCCAGAGCTGCGGGAGAACGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCGGCTTCCTCGGGGGGTTGTGATTCGCTCACAGGAGCCATTGACGGGAGAAGAGGAGGCTTTCTTGGTGGAATTTACCTCAGGCAAGATCGAGCCGCAGGAATAAAAAGCGAGGAAGGGAAGGGAGCGCCGCCGGGAGGACTAGAAGGGGCAGCCTCTCACACCCACTCCGCCTGCCGTCTCGGGGAGCCCGGACCGGGGCCGCGACCGCGACCCCTCCCCTCCCCCGCTCCTACCTCTCCTCAGCCTTCGCCAGGGCCTCCCCAACCCTCTCACGGTTGTTCTGCGAAGGCGTGGGGACTGTGAGCTTGTCCATGGAGGCAGGCACCTTTTTTGATCCAGTCAAGGAAGAGGATTTGTTGTTTTCGAAATCAGAGTGAAGGAAGCACCGAAGCGAAACTTAAGGAATCCTGCCTTCCCGGAGCCGCGGGCGATGCGACTAGGGCTGCCGGGCGCCGCCGCCGCCCGTCCGGCTTCGTCCTTCCCGGCAGTCGGGAACTAGTTCTGACCCTCGCCCCCCGACCCCGGATCGAATCCCCGCCCTCCGCACCCTGGATATGTTTTCTCCCAGACCTGGATATTTTTTTGATATCGTGAAACTACGAGGGAAATAATTTGGGGGATTTCTTCTTGGCTCCCTGCTTTCCCCACAGACATGCCTTCCGTTTGGAGGGCCGCGGCACCCCGTCCGAGGCGAAGGAACCCCCCCAGCCGCGAGGGAGAGAAATGAAGGGAATTTCTGCAGCGGCATGAAAGCTCTGCAGCTAGGTCCTCTCATCAGCCATTTGTCCTTTCAAACTGTATTGTGATACGGGCAGGATCAGTCCACGGGAGAGAAGACGAGCCTCCCGGCTGTTTCTCCGCCGGTCTACTTCCCATATTTCTTTTCTTTGCCCTCCTGATTCTTGGCTGGCCCAGGGATGACTTCCTCGCTGCAGCGGCCCTGGCGGGTGCCCTGGCTACCATGGACCATCCTGCTGGTCAGCACTGCGGCTG___CTTCGCAGAATCAAGAACGGCTATGTGCGTTTAAAGATCCGTATCAGCAAGACCTTGGGATAGGTGAGAGTAGAATCTCTCATGAAAATGGGACAATATTATGCTCGAAAGGTAGCACCTGCTATGGCCTTTGGGAGAAATCAAAAGGGGACATAAATCTTGTAAAACAAG___GATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACCACTCA___GTCCACCTCATTCATTTAACCGAGATGAGACAATAATCATTGCTTTGGCATCAGTCTCTGTATTAGCTGTTTTGATAGTTGCCTTATGCTTTGGATACAGAATGTTGACAG___GAGACCGTAAACAAGGTCTTCACAGTATGAACATGATGGAGGCAGCAGCATCCGAACCCTCTCTTGATCTAGATAATCTGAAACTGTTGGAG___CTGATTGGCCGAGGTCGATATGGAGCAGTATATAAAGGCTCCTTGGATGAGCGTCCAGTTGCTGTAAAAGTGTTTTCCTTTGCAAACCGTCAGAATTTTATCAACGAAAAGAACATTTACAGAGTGCCTTTGATGGAACATGACAACATTGCCCGCTTTATAGTTGGAGATGAGAGAGTCACTGCAGATGGACGCATGGAATATTTGCTTGTGATGGAGTACTATCCCAAT___GGATCTTTATGCAAGTATTTAAGTCTCCACACAAGTGACTGGGTAAGCTCTTGCCGTCTTGCTCATTCTGTTACTAGAGGACTGGCTTATCTTCACACAGAATTACCACGAGGAG___ATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCATAAGCGAG___GTTGGCACTATCAGATATATGGCACCAGAAGTGCT)AGAAGGAGCTGTGAACTTGAGGGACTGTGAATCAGCTTTGAAACAAGTAGACATGTATGCTCTTGGACTAATCTATTGGGAGATATTTATGAGATGTACAGACCTCTTCCCAG|GCTTTCAATACGAACTTGTGAAGTCATACGGACTGTTAGAGTCGGACATGAGCTCAAGAGAGAGTTGTGCAAGTATCCTACCCTAAATCCCTTTTAATTATCCCCAGTTTAACAGGGCAACTGAGGCACAGAATTTAACTGGGCCTTAAGGAGGTACACTGGGG...CAACAAATTCAGGGCATCTGCAGAGAAAGAAGTGGGTCATTGTCTTTCcTCTGGTGCTGAATGTCAAGGTAAAATAAcATCTTGCACCCCCATTCCACGGTACCACCCCCTTCTGGATTTGTGGTTCTGGGGGCTTACAATATTTGCCAG MTSSLQRPWRVPWLPWTILLVSTAAASQNQERLCAFKDPYQQDLGIGESRISHENGTILCSKGSTCYGLWEKSKGDINLVKQGCWSHIGDPQECHYEECVVTTTPPSIQNGTYRFCCCSTDLCNVNFTENFPPPDTTPLSPPHSFNRDETIIIALASVSVLAVLIVALCFGYRMLTGDRKQGLHSMNMMEAAASEPSLDLDNLKLLELIGRGRYGAVYKGSLDERPVAVKVFSFANRQNFINEKNIYRVPLMEHDNIARFIVGDERVTADGRMEYLLVMEYYPNGSLCKYLSLHTSDWVSSCRLAHSVTRGLAYLHTELPRGDHYKPAISHRDLNSRNVLVKNDGTCVISDFGLSMRLTGNRLVRPGEEDNAAISEVGTIRYMAPEVLEGAVNLRDCESALKQVDMYALGLIYWEIFMRCTDLFP|gfqyelvksygllesdmssrescasilp* 01BR009 ENSG00000136478.7 ENSG00000253786.1(1925),ENSG00000211666.2(978) -/- ./- chr17:64212574 chr22:22757722 CDS/splice-site intergenic translocation 4 3 0 11 16 high out-of-frame . . . . ENSG00000136478.7 . ENST00000258991.7 . upstream downstream duplicates(3) ^(GTCGCGCGGCCGGGAGCACGGGCGCCGGCATAGTACAATGAGGCAGCCAGCGGATCTTGG___AGCCTGAGCCCTTGTGAAGCCGGCAATGACAAGTCTGTATGGTCGCCATGCCGAGAAAACCACTGACATGCCAAAACCATCAGCCCCTAAAGTGCACGTGCAGAGGTCCGTGTCCCGAGATACCATCGCCATTCACTTCTCGGCATCCGGCGAGGAGGAGGAGGAAGAGGAGGAGGAGTTCAGGGAGTACTTTGAGGAGGGGCTGGATGACCAAAGCATTGTAACAGGGCTGGAAGCCAAGGAAGACCTCTATCTTGAACCCCAAGTTGGCCATGACCCCGCCGGCCCTGCTGCCTCGCCTGTCCTGGCAGATGGACTGTCCGTGTCCCAGGCCCCTGCCATTTTGCCCGTCTCCAAGAACACTGTAAAGCTGTTGGAGTCCCCTGTTCCAGCAGCACAAGTATTAAGTACAGTGCCATTGGCTGTGTCCCCAGGGTCGTCTTCGTCGGGGCCCTTAGCTAGCTCTCCCAGTGTGTCATCCCTTTCTGAGCAGAAAACCAGTTCTTCCTCCCCATTGTCCTCTCCTTCTAAGTCTCCCATCCTCTCATCCAGTGCCTCAACCTCCACCCTTTCCAGTGCAAAACCCTTCATGAGCCTTGTGAAGTCCCTGTCGACCGAGGTGGAGCCAAAAGAATCCCCACACCCCGCAAGGCACAGGCACTTGATGAAGACATTAGTCAAGTCTCTGTCCACGGACACTTCCCGGCAGGAGTCGGATACAGTGTCCTATAAGCCACCTGATTCCAAACTGAACTTACACCTGTTCAAGCAGTTCACACAGCCCCGAAACACAGGTGGAGATTCCAAAACTGCACCTTCTTCCCCACTGACTTCTCCCTCTGATACTCGTTCCTTTTTTAAAGTGCCCGAAATGGAGGCTAAAATTGAAGATACTAAACGACGCCTTTCAGAAGTCATCTATGAGCCTTTTCAGCTCCTTAGTAAAATTATAGGGGAAGAAAGTGGCAGCCATAGGCCCAAAGCCTTATCTTCAAGTGCTTCAGAACTCTCCAATCTGTCCAGCTTGAATGGGCACTTGGAAAGCAATAACAACTACAGCATCAAGGAGGAGGAGTGTGATTCTGAGGGGGATGGCTACGGAAGTGATTCCAACATCCCCAGAAGTGACCACCCAAAGTCCACTGGTGAGCCCACAAGAGAGATAGAACTGAAAAGTTCCCAGGGGAGCAGTCTGAAGGATTTAGGCCTGAAGACAAGTTCTCTAGTTCTGGAGAAATGTTCTTTGTCTGCCTTAGTGAGCAAAGAAGATGAAGAGTTTTGTGAACTGTACACTGAGGACTTCGATTTGGAAACGGAGGGGGAGAGTAAAGTTGATAAGCTCTCAGATATTCCTCTCAAGCCAGAGGTGCTCGCGGAAGATGGTGTGGTCCTTGACAGTGAGGACGAGGTGGACTCGGCCGTGCAGCACCCGGAATTGCCAGTGAAGACGTTGGGCTTCTTTATAATGTGTGTCTATGTGTACCTCATCCTCCCCCTCCCCCACTAT)GTGAGTGGACTCTTTCTGGGAATTGGCCTTGGATTCATGACTGCAGTTTGCGTGATTTGGTTTTTTACACCACCAAGTGCTCATAAATATCACAAGTTACACAAAAATCTGCGACACTGGAACACAAGATCTCTGGATATCAAAGAACCTGAAATACTGAAG|AGTCATCTCTGAAACCATGACAAGTGCATAGAGCAGCTATTTGAGCACCAGGAAAGGAAATGGTACGCAGCAGTTTGGGATGGCCCCAGCAGATGAAATACAACAGGGTCGGTGTGAGACTTCTGGATTTCCTCTGTGTCCCCTGGCTGGGATCCAGACAGCCTCAGGCCTGGAGGGGCACAAACCTGAAAACAAAAAGAAGTCCGGAAAGTCCTCTTGCTCAGGATTGAAGATAGGAAAAGAAGCTTGTTTGGCTCAAAGTGAAGGCTCAGTCCCC MTSLYGRHAEKTTDMPKPSAPKVHVQRSVSRDTIAIHFSASGEEEEEEEEEFREYFEEGLDDQSIVTGLEAKEDLYLEPQVGHDPAGPAASPVLADGLSVSQAPAILPVSKNTVKLLESPVPAAQVLSTVPLAVSPGSSSSGPLASSPSVSSLSEQKTSSSSPLSSPSKSPILSSSASTSTLSSAKPFMSLVKSLSTEVEPKESPHPARHRHLMKTLVKSLSTDTSRQESDTVSYKPPDSKLNLHLFKQFTQPRNTGGDSKTAPSSPLTSPSDTRSFFKVPEMEAKIEDTKRRLSEVIYEPFQLLSKIIGEESGSHRPKALSSSASELSNLSSLNGHLESNNNYSIKEEECDSEGDGYGSDSNIPRSDHPKSTGEPTREIELKSSQGSSLKDLGLKTSSLVLEKCSLSALVSKEDEEFCELYTEDFDLETEGESKVDKLSDIPLKPEVLAEDGVVLDSEDEVDSAVQHPELPVKTLGFFIMCVYVYLILPLPHYVSGLFLGIGLGFMTAVCVIWFFTPPSAHKYHKLHKNLRHWNTRSLDIKEPEILK|shl* 01BR009 ENSG00000115641.19 ENSG00000144218.19 -/- -/- chr2:105396647 chr2:99551595 5'UTR/splice-site CDS/splice-site deletion 4 3 0 32 18 high . . |AF-4_proto-oncoprotein(100%) . . ENSG00000115641.19 ENSG00000144218.19 ENST00000344213.9 ENST00000317233.8 upstream downstream duplicates(1) ^(AGGGTACGGGCCGGGACCGCCGCAGCCCGGGGCGGGGGCACGGCAACCGCGAGGCCTGGGGGCGCCCGCCCCCCGCGCCCCACGCCCGGTGCCAGCGAGCCGAGGCGTGCATCTCCTTATATGGTCAAATGACACGGCGGGGTTTCTCGAGGGCGGGAGCTGCGCAGCGCTCCACTCGGCCGGCAGCGGAGCCGCAGCCACCAGCCGCCCGCGCCCTCCAGCCCCGTCCGGGAGTCCCCGGCCCGCTGCGGTGCCGTGAGTACCTCCAACCCCCTGCGCCCCGGAGGGAGGCCGAGGGGCTTAGCCAC)CAGGGCTCGGAAGTGGGGGCCGAATCCGGTGCGAGACCCAAGGAGAGGGGAGCAGAGCCGGAGTTGGGGAGACTG___TGGCTGAGAACTGTGTCTTCCTGGAGACTAGGCTGGCATTTTGACTTTGGG|AATTCTTCAACGACCTGGATCTGCTCATGGGGCCGGTCACCCTGCACAGCAGCATGGAGCACCTGGTCCAGTACTCCCAACAGGGCCTGCACTGGCTGCGGAACAGCGCCCACCTGTCATAGGGACCTCACCCTGGG(GCCAGAGTGGGCTCTGGTCTCCACAGATGGCTCAACGTTTTTGGACACTGTGCTACTGAAACTCCCAGCCACAGCATTTATCAGACTGCGGTGAACATTTCCTCAGCATTGAACAATGATCTTTTGCAGGGCATGTGTGTTTGTATGTGTGGGTATATAAGAAGCCGCCTGTGTATGTGTGTAAGATACACAGCTCTTCAGAACACACCTTCTTTGTCTAGTTTCCATAATCCCAGGCTAGACAAAGTGATCAGAGGTTTCTGACTAGAGGAAGTACACACACACACACACACACACACACACACCGTACACTCACACACAATCACAGACACACACTTTCTATTCCATTCCAGTGCTAAACCGTGACTTCTTAGAAAATTCAACCAAAATCTCATGGGTTAGTTAACCAGGTGCAATACAGCACACCAAAAGCTTGACTGCCAGTGAAGATGGACCTGCTCTTATACTGTTGATTACTTTCAGTATTAATATACTATTCCCCAATTATTTTTTGATTGGTATGTATTAATGGGTAATTGAATAATGAAAATAAGCCAGGTATTTTTGTGCCGGAAGTTTACTAGATTGCATGTTACCAAATACCCTGCTCTTCCTCTAATTCCCTTCCCCCATCTGACTCTATTATCAACTAAATGCATTCCAGGCAAACAGATGGACACTCACAGCCCTTCCCAGCCCCACCTCCAAGTAGTATGCAAATGGCACTGAGATTTAGCAAAAACGCGGCGTCTTTGAAAGTTAACAGACACTAAGGTAGCAGTGCCTGTGTGTTGGAGCTCAGTTAGGAGTTGAAGTTTTCTGCACCTGTGATAACAAGCCCACCAGCCACATGCATTTCTTCTTCCTGCCACTGTGACTCGGTGGCTGTAGAGCCACATGGCATTTGTCAGCCAATCTGTTTCAAGTCTTTTCTTTCCACCAATAGCTTTCTTACAGATTTTCTTGGCTAAATGAGGCCATTACCTAGATTGTCCCTTCAGTAGGAGCCTGAATCCTTCGCTTACCAGGCTGAGAGCTATTTGCCATGATAATGCTGATTCTCTCACTCCTCATGCAGAATGTGCACCTGCAGCCCTTTGATGCGTTTTGATTTGGGGGCGATTTTTCAGGCTTTGATTAGCAGGCTGCTTGCAATGCAGAAGATCACAGTTCCTTTCTGGGGCAGCAGCAACCAGAGCCTCTTCCTGTGTCCTGTGTGTCTGGTATGTTTACACCTTGCTCTGAGTTTTTCTCTTGTTTTCTTTTTTTAATTAAGTTTACATTTTAGTTTCTTTGACATCTTGTTTACAGTTTTTGTCTGATGTTTTTTCTTTTGTAGTGTCTTATGCCCTAGATTTAGTCATCTTGTTAAATATATTTGGATATGAAATCTTGACGAAAAGAAAATAACTCCTGAAAAAGAGGGTCTATCTTGCCACACGTTAAAAACAAAAATAATGTCCTTGTGGCCTCTTACTTGATAAAGTTGCACCAGGACGGTCTGAGAAAGGCAGGCGGTGTAATATGTGGTGCAATCCATTTTTTCAAGGTGATGACGGCACAAAATACTTAGACTAGATGCTGATCCATAAACATTCACTGATATTCTTACAGGTTGGTTTGCAGTGTTAACATTTTTGTTAGCCTGATCTGTAGGTGGGAAGTAAGATCATCATAATTCCTTAGCTCTGAGCACTGATTCAAAATTGTATAAATGACTGAACAACTTAGATGATTTGAAATTAATTGAAAATAAGAAGGGCTTGTGGAATTTGCATTTGGCTTTGGCCTTCAAGCATTTGGAAATATTAAGAGAATTTCCATTTTACATGTCTCCAACTGGGGTGCTTCTTACAACCCTTTCACTTTTTTTTTGAGACGAGTTTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCATCCTCTGCCTCCTGGGTTCAAGTGATTGTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACTACCATGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCCACCTCCCAAAGTGTTGTGATTACAGGCGTGAGCCACCACACCCAGCCCTTTCACTAATTTTTGGCAGAGTTCACAATCCCATCCTATGTCAGAAACTTGAACCTAACTTAAGAAATTTTGAGTCATTTTTTTGGAGGACTGAGGCTTTGTTCTACCTACTCTTGAAGAATCCTGATGAAATATTCAAACACATAAAGGGATGGCCCTGGAGGTCTATCCTGCATACCTGGAGAGCTTCTCTGGTCCTGCCCACCTTGAAAGTTGCAGACTTTGTTGTAACATCTATGTGATGAGCTTCCCTGTGAAGCCCCATTTGACAGGTGGGCCAGCAGTGTTTTATCAGCACTCTGATGGCCCACATTTCCCAGGAAAACTTCTTGAAACTTACCGTTGTGGGCAGTGGTCAGAGCGTGTAGTTCTTATGACTGTCTTGTTTCATCTGTGGAGCACGTGTGGAGCACGTTGGTACAGCAGTTTCTGTGGGGTTTGGCATGGGTGATTTTGGTTAGTAACCATCCTCCAATTGTTGCTTGTGAAAGTCATTCATAACTTGTTCCTTTTACTTAGTTTTGTTGTTACTGCTGTTGTTGTTGGTTTGGTTGGTTTTGAGACCGGGTCTGGCTCTGTAGCCCAAGCTGGAATGCGGTGGCGCGATCATGGCTCCCTGCAGCCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAGCAGCTGGGAAGATAGGCACGTGCCACCACACCCGGCTAATTTTTTCTTTATTTTTTTTGTAGAGATGGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTTTGGCCTCGGCCTCCCAAAGTGCATGAGCCACCATGCCTGGCCTGTTTAGTTTTGTTTCAAGTTGAAATACCTTTCTTGTGTTTTCTAATTAGAAAAGTAATATCTACTCATTGTAAAAACTCAAACAGTGCAGAAATGTAGAAAGTAGAAAGTGTAAGTCCCTGGTTGTCCCTTCTGCCTGAGACAACCACTGCTCACAGTTTGATGTATATCCTTCCAGAGACTCTCAAATTTAAGCAAATAATTTTTATTACCATGTCTTTTTATTTGAAGACGTACATTTGCCTCCAAAGTTCAACACAAGTTCAACTGACCATATCCTTCCATGACCTGAATAGATGCTATCCTTTATCACGATGTTCAATTGCCTTTGAAAGAGAGTAGTCCAGGTATATTCCTGATCAAAATTTGGCATTTTTGATGATACTACTCTACACAGATCAGACTCATGTGCAGAATCGTGCCTGGAGAGAGAGGTTTGGTTAAGACAGAGATTTCTGGAAACATTCAAATTGCAAATGGAAACTTGAAACCCACAATCTAATGAGGAATGTACTGGAAAAATAATCTGAAGAGTTGACAAATTGTGTACTAGATTGAACACATGGAATGCAATGCAATGAGACTTTCTGCACTAAAACTTATCCTCATATGTACAACAATGATGTGTGTATTATATAACAGTGATGTGTACATTTCTGACACCCCATACATAATATACACAGTTTGTATAAATGCATACATTTAAAAATATATATGTACAATACAGCTAACATAAAACTGTAGTACGCCTGAAGGATATTACTAGTGCCTAATATTGAGTATGAGTCACTGCGTGTTCGCATCAACTTGGAAGTGCAGTAATTGTTATAAAATTAATCAGTGCAGCCAACATTATTTATGAATCACATCTTTGAAACTGTGCAGTAGCATATACATATATATTTTTAAATAACATTTTTCACAGTTTTCCAGAGTTACTGTTGAAATCTGCATCACCAAAAAAAAAAAAAAGCAAGATTTTTTTAACAATGTAGACACTCTTCAGACCCAGTAATCTGCGTGTGATTTCCTATTTGTAGATTCCCAAGAGACTTTAGCAGTCACCAGCCTTAATGCATGTACAGGATATTATTGTGACTTAATTTATCTGCAGTTTTTAATCCATGTGAAATTGGAATTTATAAACGGACTTGGATTAAACATGTCTGCCTTTCTAAGGTTGCAAATGTTACATTAAATGATTTATGTTGT)$ . 01BR009 ENSG00000198648.11 ENSG00000184898.7 -/- -/+ chr2:168161787 chr2:151252653 CDS/splice-site intron inversion/5'-5' 1 4 0 26 13 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000198648.11 ENSG00000184898.7 ENST00000355999.5 . upstream upstream . ^(GCTCCCTCCCCTCCTAGCTGGCTTCGGCGGGGACGGCGGCGGCGGCGGCGGGCGGGGAGGGCGTGCGCCGGCCGAGAGGTGTCGGCGGCGAGGCAAAGGAAGTTTCAAGTGGAAGGTCGTCCGTCGGCCGGCGCGTCCTCCTGCTCTCCTCCGCAGCATCATGGCGGAGCCGAGCGGCTCGCCCGTGCACGTCCAGCTTCCCCAGCAGGCGGCCCCGGTGACAGCGGCGGCGGCGGCGGCCCCGGCGGCCGCGACAGCAGCGCCGGCCCCGGCAGCTCCCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCGGCACAGGCTGTCGGCTGGCCCATCTGCAGGGACGCGTACGAGCTGCAGGAGGTTATCG___GCAGTGGAGCTACTGCTGTGGTTCAGGCAGCCCTATGCAAACCCAGGCAAGAACGTGTAGCAATAAAACGGATCAACTTGGAAAAATGCCAGACCAGTATGGATGAACTATTA___AAAGAAATTCAAGCCATGAGTCAGTGCAGCCATCCCAACGTAGTGACCTATTACACCTCTTTTGTGGTCAAAGATGAACTTTGGCTGGTCATGAAATTACTAAGTGGAG___GTTCAATGTTGGATATCATAAAATACATTGTCAACCGAGGAGAACACAAGAATGGAGTTCTGGAAGAGGCAATAATAGCAACAATTCTTAAAGAGGTTTTGGAAGGCTTAGACTATCTACACAGAAACGGTCAGATTCACAG___)GGATTTGAAAGCTGGTAATATTCTTCTGGGTGAGGATGGTTCAGTACAAATAGCAG|AAGTCATGGAGTGAGAGCACTTTGTGTCGCCTGCCATAAGAAAAACTTCAAAAAAGAAATGGGATACAGGACTATCAGTACACCTACAGCATCACACCTTACCTTGTCACCAAAATGAGAGACTCTGAGAGAGACTGTGAGTTCAGCATGTCTAGTCTTCCTTGCTAGCCAGTGTTTCTTTTGTCTGATGACATTCTCTGCAACTAAGTGGAAACACTGGCATCAGAAGTGTTTATGGCATGATACACTAATAATTTTTTAATAAAAATAGGCATATTCAATTATA MAEPSGSPVHVQLPQQAAPVTAAAAAAPAAATAAPAPAAPAAPAPAPAPAAQAVGWPICRDAYELQEVIGSGATAVVQAALCKPRQERVAIKRINLEKCQTSMDELLKEIQAMSQCSHPNVVTYYTSFVVKDELWLVMKLLSGGSMLDIIKYIVNRGEHKNGVLEEAIIATILKEVLEGLDYLHRNGQIHRDLKAGNILLGEDGSVQIA|evme* 01BR009 ENSG00000170776.22 ENSG00000266357.6(48176),ENSG00000172809.13(1194) +/+ ./+ chr15:85380798 chr17:74202388 5'UTR/splice-site intergenic translocation 3 2 0 10 35 high . . . . . ENSG00000170776.22 . ENST00000394518.7 . downstream upstream duplicates(1) ^(GTGTGCAGGGCCAGCGCGGAGCCCGAGCAGCCGCGGTGAAGC)GCCTGTGCTCTGCCGAGACTGCCGTGCCCATTGCTCGCCTCGGTCGCCGCCGCTTTAGCCGCCTCCGGGGGAGCGGCCGCCTATTGTCTTTCTCCGCGGCGAAGGTGAAGAGTTGTCCCAGCTCGGCCCGCGGGGGAGCCCCGGGAGCCGCACG|CAAGGTCTATTGGTTCCTGTATCTCCAGCACCCCCAGGAAGGTGCTCAGCCTGAGCTTGTTAATGGAAGGGCAGGAGGGAGGAAGAAAGGAAGGT . 01BR009 ENSG00000224259.7 ENSG00000233473.2(42903),ENSG00000162706.13(46911) +/+ ./+ chr1:159961405 chr1:159124698 exon/splice-site intergenic duplication 2 3 0 185 7 high . . . . . ENSG00000224259.7 . ENST00000657602.1 . downstream upstream . ^(CTGGCACCGACTGCCCGTTAGAGAAGGCCTGTGGTGGGCAGGCATGTCCAGGCACTGGGACTCTAGCTGTGCAAGACTGTCCTGGTGCCAGGACTCTTGCTGTGCACAGCCATGGGCTGGGGCTGCCGGGAACAGCGTAGATCCCGAAGGTGCTGCAGCTAGAGCCTGTCGGTTAACTGCACTTCTTGCAGCCAAAAATGTGTTTACTCTTGAAGGGGGAGCCGAGGCTGCTACA___GAGCAATTAAGCCAATGAGAAATCAGACCCACACCCCAATTCTGATGTAACAGCCTTGGGAA)AGAGGTTGCAGTGAAAAGCTGGTCCTGCTGTGGTGGAGAGAATGGAGGAAAGATAATAAAAGGCCAAACCTTTGCTCCAACTTTCTCCTTAGCTTCCCTTTGGATCTGGAAAGCTGGGGACCCACACGGCAGAGCCATGGTACTGGAGGAGCCATTAACAA|AGAACAACCCCTCAGATCACAGCCTTGACCTTCCCAGTGTTTCAGAGGTCCATTGAAGAACCACCAGCGCACCTCTCTCCCCAGCTCAGTAGAGCAGGAGGAAAACAG___CTTCTCAAAAGCCTTCTGAACACATTCATGTGATGAGAGCTATTTCCTGTCTGAGAATGGAAGTCAGGGAAGGACGAAGGAAAATGCAAGACTAAACTGCC . 01BR009 ENSG00000240849.11 ENSG00000233077.1(93404),ENSG00000244376.3(14444) -/- ./- chr20:50143502 chr20:50414746 CDS/splice-site intergenic duplication 1 4 0 91 5 high out-of-frame . . . . ENSG00000240849.11 . ENST00000371652.9 . upstream downstream . ^(ATTGGGCGGCGTGATCTCGCCGCGGTTCCGCGGCCCTGCCGCCGCCGCCGCCAGCAGAGCGCACCGGGCCGATCGGGCGAGTGGCCATGGCGGGCGCCGAGAACTGGCCGGGCCAGCAGCTGGAGCTGGACGAGGACGAGGCGTCTTGTTGCCGCTGGGGCGC)GCAGCACGCCGGGGCCCGCGAGCTGGCTGCGCTCTACTCGCCAG___GCAAGCGCCTCCAGGAGTGGTGCTCTGTGATCCTGTGCTTCAGCCTCATCGCCCACAACCTGGTCCATCTCCTGCTGCTGGCCCGCTGGGAGGACACACCCCTCGTCATACTCGGTGTTG|GAGACACAGAAAAGTACAAAGAAGAAAACTAAAAAGGTGACCCAGAGAGAACCACTCTAAGATGTGCACGGGAATTCAGCTCAGCTCGCGTATTTAAATTGAGATCCTAC MAGAENWPGQQLELDEDEASCCRWGAQHAGARELAALYSPGKRLQEWCSVILCFSLIAHNLVHLLLLARWEDTPLVILGV|gdtekykeen* 01BR009 ENSG00000124208.16 ENSG00000233077.1(93404),ENSG00000244376.3(14444) -/- ./- chr20:50143502 chr20:50414746 CDS/splice-site intergenic duplication 1 4 0 91 5 high out-of-frame . . . . ENSG00000124208.16 . ENST00000341698.2 . upstream downstream . ^(ATGGCGGGCGCCGAGAACTGGCCGGGCCAGCAGCTGGAGCTGGACGAGGACGAGGCGTCTTGTTGCCGCTGGGGCGC)GCAGCACGCCGGGGCCCGCGAGCTGGCTGCGCTCTACTCGCCAG___GCAAGCGCCTCCAGGAGTGGTGCTCTGTGATCCTGTGCTTCAGCCTCATCGCCCACAACCTGGTCCATCTCCTGCTGCTGGCCCGCTGGGAGGACACACCCCTCGTCATACTCGGTGTTG|GAGACACAGAAAAGTACAAAGAAGAAAACTAAAAAGGTGACCCAGAGAGAACCACTCTAAGATGTGCACGGGAATTCAGCTCAGCTCGCGTATTTAAATTGAGATCCTAC MAGAENWPGQQLELDEDEASCCRWGAQHAGARELAALYSPGKRLQEWCSVILCFSLIAHNLVHLLLLARWEDTPLVILGV|gdtekykeen* 01BR009 ENSG00000227036.8 ENSG00000133195.11 -/- -/- chr17:72592203 chr17:72736719 exon/splice-site CDS/splice-site duplication 3 1 0 24 39 high . . . . . ENSG00000227036.8 ENSG00000133195.11 ENST00000648631.1 ENST00000255559.7 upstream downstream . ^(AGGGCGCGCAGGCGGCGCGGGTGCGCGGTGCGGCGCTGGTATCCAGAGGACGCGGTCACCGCCTCTGGCATTTGTCGTTCTGCGCTTCTCCGCAAGGACCCTCTGTTAGGCAGGCGCCCACCGTAAGCCTCCCGGGCCTTGTGAACCTGCAAACCCAAGTCTGAGAGACGATCCGCCTTCAGCGCTTTCCAGCTTGGCAGAGAGGCTTTCCCGGCGGGGATCTTTGGTTGGCGCTGGCGATGCGCGGGGAAGAAAGGCGAGGAGCGGCGTCCAGGCTGGGTGATGTCCCAGCACGAGTAGGCGGGATGCGCTCGCTTGGTCCTCCGGGCGCCCGGTCCCTGCCCGCGTCGCGCGCCCACCCCTGGGGACGAGAAGGCGGCCGCCTGAGGACCCCCGCCCGCGACCTCCGCGAGTCTGGAGCGCAGAGGACAGGGTCTGGCTGCTCTTTGGCCTTG)GATGGAAAGTGGGGAATTGGGTGGGGGGCTGCGGACCCCTTAACGTGGATTACTTGGTGTGTATCAGCTGGGCTCAGAAGACCCACGACCTCTTCTCCATCCGTGGATTGATTTGTTCTGCTTAACAGCTGGGTCGCCAAGCTGGAG|AGGGTCTCGCTGTTGGAGTTGGATTTGGGGCTATAGAAAAGACGGCATCTGCTACCTTTGAGAGTGCCAG(___GAATTTGGCCATTGGAATCGGGATCCAGAATTTCCCCGAGGGCCTGGCTGTCAGCCTTCCCTTGCGAGGGGCAGGCTTCTCCACCTGGAGAGCTTTCTG___GTATGGGCAGCTGAGCGGCATGGTGGAGCCCCTGGCCGGGGTCTTTGGTGCCTTTGCCGTGGTGCTGGCTGAGCCCATCCTGCCCTACGCTCTGGCCTTTGCTGCCGGTGCCATGGTCTACGTGGTCATGGACGACATCATCCCCGAAGCCCAGATCAG___TGGTAATGGGAAACTGGCATCCTGGGCCTCCATCCTGGGATTTGTAGTGATGATGTCACTGGACGTTGGCCTGGGCTAGGGCTGAGACGCTTCGGACCCCGGGAAAGGCCATACGAAGAAACAGCAGTGGTTGGCTTCTATGGGACAACAAGCTTCTTTCTTCACATTAAAACTTTTTTCCTTCCTCTCTTCTTCATCTCATTATCCTGATTGACTCTGATTATAATAGAACCATTTTTACTTTGCTTTGAGGGAGATTTTTGATTTAATGGGGAATTTTAAGGTGTCATGGAAATACAGATTCTTTGTTTTGGCCACTGAATGGACTCTCTCTTCAGTGGGATTATCAAGGAACTTCAGATCAGGGAAATCTCCACTTCGGGACCTTCTATCTGCCTCCCAACTCCTCAAGGTCACCTATAGAAGCGAGCTACCAAAAGACGTCTCCTAAGCATTTTGGTGGCCTAGTGACTCAGGGCAGAGTGGCCAGCACACCTCTCATCCGCCCCTCCTGCTCCATCACTGCTGAGCCTCTCCCCATCTAGAATGTTGGAACTGGAGCATCATAAAGATAGCAAGCTACCTTCCAAGGCCGAGCCAGCCCAGAGAGGAGCATGTCTTCCTTTACCTCCCCCTAAGGAGATACTACATGGGAGGGGGACACAGAAAAAGGGAAGGAAATTGGCTAGTCTGGCTTTTTTTTTTTTTTTTTTTAAAGGCAAAGATTGACATTATTGAAGGAAAGGGGATGAGGACAACTGTGAACTCACAGTGAGCCCTGTGGAAAGAAGAGACAGACAGAGTGTGGGTTTGTTCGGAGGCCTCTGCTGTCAATGGATTCCAGGAGCAAGGCCATTTGTCGCGCTTTCCAAATTTCTTAGGCATTTATTTTGATAAGTTTATAGCCATCATGTTTCTAAGAGACTTGGAGACACCAGCAAACTGCTAGAACTCAAACTCTTCAATTACTCAAAGAAGGAGCCATTTCAGTTAACTCAAGTGAATGAAAGAGTTTTGGAATCTGCTGTGGGTCCTTCCCTGTTGACCATTTGGTAACTTATAATCTGACAAAAACTCTTGAGCTGCAACAGGCCTTGCCAGAGGGCTCAGGATGGGAAAGGAAGAAGGGGATAGGAAAAGAAGAGGTAATTTTACATTTCCCCTTTAAAGTAAATTTTAGCCAACTCATCATTCTGAAATGTCCCTATAAAGAATGAGTCGAACTAGACCAGAAGCCAGCCTACTCCTTCTTACATAGCTTCTCCAACAGGGGTAGCAATGACCTGTCCACTTCAAACACAGATAAGGCCTGCCATCCTCATTGGTTAAAGGCACACGTGAGACTTTCAGTGGGCTCTGCTGAGAAGGAAGGCAGCCCAGGAGTCAGGTATGCAGGCATTGCATTGTCAGTGTCTGCTCTCAGAGTTTACACATTCAATTGCTTCCAAGGGTGAATCTCCTGCTCTGTGAATGCTATCAGACCCCAAAGGCCAACCTTGGGCTGGGTCTATGTACGTTCTTCCGAAGCACTGATGATCAAAATTGAAGACACATTCAGAGGTTTGATTGGTTGAGATTAACTGGTGTGGTGGTTGGTGTATGTATGTTTTATTTTTATGTCTTTGTATGTAGTTCTACATAATGCAAATTGTGCTTTCTGATGGACAAGACCTCATAACTGTGATTAATATCAATAAAAAGGGGATGTTGTGGA)$ . 01BR009 ENSG00000139618.15 ENSG00000227674.3(573165),ENSG00000214269.3(308888) +/+ ./+ chr13:32341196 chr13:64649209 CDS/splice-site intergenic deletion 2 1 0 10 4 high out-of-frame . BRCA2_repeat(100%)| . . ENSG00000139618.15 . ENST00000380152.7 . downstream upstream . ^(GGGCTTGTGGCGCGAGCTTCTGAAACTAGGCGGCAGAGGCGGAGCCGCTGTGGCACTGCTGCGCCTCTGCTGCGCCTCGGGTGTCTTTTGCGGCGGTGGGTCGCCGCCGGGAGAAGCGTGAGGGGACAGATTTGTGACCGGCGCGGTTTTTGTCAGCTTACTCCGGCCAAAAAAGAACTGCACCTCTGGAGCGG___ACTTATTTACCAAGCATTGGAGGAATATCGTAGGTAAAAATGCCTATTGGATCCAAAGAGAGGCCAACATTTTTTGAAATTTTTAAGACACGCTGCAACAAAGCAG___ATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTCAACTCCAATAATATTCAAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAG___GAAGGAATGTTCCCAATAGTAGACATAAAAGTCTTCGCACAGTGAAAACTAAAATGGATCAAGCAGATGATGTTTCCTGTCCACTTCTAAATTCTTGTCTTAGTGAAAG___TCCTGTTGTTCTACAATGTACACATGTAACACCACAAAGAGATAAGTCAG___TGGTATGTGGGAGTTTGTTTCATACACCAAAGTTTGTGAAG___GGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAG___TCAGAAATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACTGCT___AATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATG___GATTTGGAAAAACATCAGGGAATTCATTTAAAGTAAATAGCTGCAAAGACCACATTGGAAAGTCAATGCCAAATGTCCTAGAAGATGAAGTATATGAAACAGTTGTAGATACCTCTGAAGAAGATAGTTTTTCATTATGTTTTTCTAAATGTAGAACAAAAAATCTACAAAAAGTAAGAACTAGCAAGACTAGGAAAAAAATTTTCCATGAAGCAAACGCTGATGAATGTGAAAAATCTAAAAACCAAGTGAAAGAAAAATACTCATTTGTATCTGAAGTGGAACCAAATGATACTGATCCATTAGATTCAAATGTAGCAAATCAGAAGCCCTTTGAGAGTGGAAGTGACAAAATCTCCAAGGAAGTTGTACCGTCTTTGGCCTGTGAATGGTCTCAACTAACCCTTTCAGGTCTAAATGGAGCCCAGATGGAGAAAATACCCCTATTGCATATTTCTTCATGTGACCAAAATATTTCAGAAAAAGACCTATTAGACACAGAGAACAAAAGAAAGAAAGATTTTCTTACTTCAGAGAATTCTTTGCCACGTATTTCTAGCCTACCAAAATCAGAGAAGCCATTAAATGAGGAAACAGTGGTAAATAAGAGAGATGAAGAGCAGCATCTTGAATCTCATACAGACTGCATTCTTGCAGTAAAGCAGGCAATATCTGGAACTTCTCCAGTGGCTTCTTCATTTCAGGGTATCAAAAAGTCTATATTCAGAATAAGAGAATCACCTAAAGAGACTTTCAATGCAAGTTTTTCAGGTCATATGACTGATCCAAACTTTAAAAAAGAAACTGAAGCCTCTGAAAGTGGACTGGAAATACATACTGTTTGCTCACAGAAGGAGGACTCCTTATGTCCAAATTTAATTGATAATGGAAGCTGGCCAGCCACCACCACACAGAATTCTGTAGCTTTGAAGAATGCAGGTTTAATATCCACTTTGAAAAAGAAAACAAATAAGTTTATTTATGCTATACATGATGAAACATCTTATAAAGGAAAAAAAATACCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCAGTTTGAAGCAAATGCTTTTGAAGCACCACTTACATTTGCAAATGCTGATTCAG___GTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCTCTGTCATGCCTGCAGGAAGGACAGTGTGAAAATGATCCAAAAAGCAAAAAAGTTTCAGATATAAAAGAAGAGGTCTTGGCTGCAGCATGTCACCCAGTACAACATTCAAAAGTGGAATACAGTGATACTGACTTTCAATCCCAGAAAAGTCTTTTATATGATCATGAAAATGCCAGCACTCTTATTTTAACTCCTACTTCCAAGGATGTTCTGTCAAACCTAGTCATGATTTCTAGAGGCAAAGAATCATACAAAATGTCAGACAAGCTCAAAGGTAACAATTATGAATCTGATGTTGAATTAACCAAAAATATTCCCATGGAAAAGAATCAAGATGTATGTGCTTTAAATGAAAATTATAAAAACGTTGAGCTGTTGCCACCTGAAAAATACATGAGAGTAGCATCACCTTCAAGAAAGGTACAATTCAACCAAAACACAAATCTAAGAGTAATCCAAAAAAATCAAGAAGAAACTACTTCAATTTCAAAAATAACTGTCAATCCAGACTCTGAAGAACTTTTCTCAGACAATGAGAATAATTTTGTCTTCCAAGTAGCTAATGAAAGGAATAATCTTGCTTTAGGAAATACTAAGGAACTTCATGAAACAGACTTGACTTGTGTAAACGAACCCATTTTCAAGAACTCTACCATGGTTTTATATGGAGACACAGGTGATAAACAAGCAACCCAAGTGTCAATTAAAAAAGATTTGGTTTATGTTCTTGCAGAGGAGAACAAAAATAGTGTAAAGCAGCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGTAAATACCTTGGCATTAGATAATCAAAAGAAACTGAGCAAGCCTCAGTCAATTAATACTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAAAAATAGTCATATAACCCCTCAGATGTTATTTTCCAAGCAGGATTTTAATTCAAACCATAATTTAACACCTAGCCAAAAGGCAGAAATTACAGAACTTTCTACTATATTAGAAGAATCAGGAAGTCAGTTTGAATTTACTCAGTTTAGAAAACCAAGCTACATATTGCAGAAGAGTACATTTGAAGTGCCTGAAAACCAGATGACTATCTTAAAGACCACTTCTGAGGAATGCAGAGATGCTGATCTTCATGTCATAATGAATGCCCCATCGATTGGTCAGGTAGACAGCAGCAAGCAATTTGAAGGTACAGTTGAAATTAAACGGAAGTTTGCTGGCCTGTTGAAAAATGACTGTAACAAAAGTGCTTCTGGTTATTTAACAGATGAAAATGAAGTGGGGTTTAGGGGCTTTTATTCTGCTCATGGCACAAAACTGAATGTTTCTACTGAAGCTCTGCAAAAAGCTGTGAAACTGTTTAGTGATATTGAGAATATTAGTGAGGAAACTTCTGCAGAGGTACATCCAATAAGTTTATCTTCAAGTAAATGTCATGATTCTGTTGTTTCAATGTTTAAGATAGAAAATCATAATGATAAAACTGTAAGTGAAAAAAATAATAAATGCCAACTGATATTACAAAATAATATTGAAATGACTACTGGCACTTTTGTTGAAGAAATTACTGAAAATTACAAGAGAAATACTGAAAATGAAGATAACAAATATACTGCTGCCAGTAGAAATTCTCATAACTTAGAATTTGATGGCAGTGATTCAAGTAAAAATGATACTGTTTGTATTCATAAAGATGAAACGGACTTGCTATTTACTGATCAGCACAACATATGTCTTAAATTATCTGGCCAGTTTATGAAGGAGGGAAACACTCAGATTAAAGAAGATTTGTCAGATTTAACTTTTTTGGAAGTTGCGAAAGCTCAAGAAGCATGTCATGGTAATACTTCAAATAAAGAACAGTTAACTGCTACTAAAACGGAGCAAAATATAAAAGATTTTGAGACTTCTGATACATTTTTTCAGACTGCAAGTGGGAAAAATATTAGTGTCGCCAAAGAGTCATTTAATAAAATTGTAAATTTCTTTGATCAGAAACCAGAAGAATTGCATAACTTTTCCTTAAATTCTGAATTACATTCTGACATAAGAAAGAACAAAATGGACATTCTAAGTTATGAGGAAACAGACATAGTTAAACACAAAATACTGAAAGAAAGTGTCCCAGTTGGTACTGGAAATCAACTAGTGACCTTCCAGGGACAACCCGAACGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCATACAGCTAGCGGGAAAAAAGTTAAAATTGCAAAGGAATCTTTGGACAAAGTGAAAAACCTTTTTGATGAAAAAGAGCAAGGTACTAGTGAAATCACCAGTTTTAGCCATCAATGGGCAAAGACCCTAAAGTACAGAGAGGCCTGTAAAGACCTTGAATTAGCATGTGAGACCATTGAGATCACAGCTGCCCCAAAGTGTAAAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGGTCAACCAGAAAGAATAAATACTGCAGATTATGTAGGAAATTATTTGTATGAAAATAATTCAAACAGTACTATAGCTGAAAATGACAAAAATCATCTCTCCGAAAAACAAGATACTTATTTAAGTAACAGTAGCATGTCTAACAGCTATTCCTACCATTCTGATGAGGTATATAATGATTCAGGATATCTCTCAAAAAATAAACTTGATTCTGGTATTGAGCCAGTATTGAAGAATGTTGAAGATCAAAAAAACACTAGTTTTTCCAAAGTAATATCCAATGTAAAAGATGCAAATGCATACCCACAAACTGTAAATGAAGATATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAAATTTGCCAAACGAAAATTATGGCAGGTTGTTACGAGGCATTGGATGATTCAGAGGATATTCTTCATAACTCTCTAGATAATGATGAATGTAGCACGCATTCACATAAGGTTTTTGCTGACATTCAGAGTGAAGAAATTTTACAACATAACCAAAATATGTCTGGATTGGAGAAAGTTTCTAAAATATCACCTTGTGATGTTAGTTTGGAAACTTCAGATATATGTAAATGTAGTATAGGGAAGCTTCATAAGTCAGTCTCATCTGCAAATACTTGTGGGATTTTTAGCACAGCAAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCCAAAGTATTGTTTAAAAGTAACGAACATTCAGACCAGCTCACAAGAGAAGAAAATACTGCTATACGTACTCCAGAACATTTAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCTAGACAAAATGTATCAAAAATACTTCCTCGTGTTGATAAGAGAAACCCAGAGCACTGTGTAAACTCAGAAATGGAAAAAACCTGCAGTAAAGAATTTAAATTATCAAATAACTTAAATGTTGAAGGTGGTTCTTCAGAAAATAATCACTCTATTAAAGTTTCTCCATATCTCTCTCAATTTCAACAAGACAAACAACAGTTGGTATTAGGAACCAAAGTGTCACTTGTTGAGAACATTCATGTTTTGGGAAAAGAACAGGCTTCACCTAAAAACGTAAAAATGGAAATTGGTAAAACTGAAACTTTTTCTGATGTTCCTGTGAAAACAAATATAGAAGTTTGTTCTACTTACTCCAAAGATTCAGAAAACTACTTTGAAACAGAAGCAGTAGAAATTGCTAAAGCTTTTATGGAAGATGATGAACT)GACAGATTCTAAACTGCCAAGTCATGCCACACATTCTCTTTTTACATGTCCCGAAAATGAGGAAATGGTTTTGTCAAATTCAAGAATTGGAAAAAGAAGAGGAGAGCCCCTTATCTTAGTGG|GCTTTCTTGGCCTTCTGCCTTCCACCATTAGATGATGCAGCAAGAAGACCATCACCAGGTACTGACACACCTTAATTTTGGACTTTCCAGCCTCCAGAAGC MPIGSKERPTFFEIFKTRCNKADLGPISLNWFEELSSEAPPYNSEPAEESEHKNNNYEPNLFKTPQRKPSYNQLASTPIIFKEQGLTLPLYQSPVKELDKFKLDLGRNVPNSRHKSLRTVKTKMDQADDVSCPLLNSCLSESPVVLQCTHVTPQRDKSVVCGSLFHTPKFVKGRQTPKHISESLGAEVDPDMSWSSSLATPPTLSSTVLIVRNEEASETVFPHDTTANVKSYFSNHDESLKKNDRFIASVTDSENTNQREAASHGFGKTSGNSFKVNSCKDHIGKSMPNVLEDEVYETVVDTSEEDSFSLCFSKCRTKNLQKVRTSKTRKKIFHEANADECEKSKNQVKEKYSFVSEVEPNDTDPLDSNVANQKPFESGSDKISKEVVPSLACEWSQLTLSGLNGAQMEKIPLLHISSCDQNISEKDLLDTENKRKKDFLTSENSLPRISSLPKSEKPLNEETVVNKRDEEQHLESHTDCILAVKQAISGTSPVASSFQGIKKSIFRIRESPKETFNASFSGHMTDPNFKKETEASESGLEIHTVCSQKEDSLCPNLIDNGSWPATTTQNSVALKNAGLISTLKKKTNKFIYAIHDETSYKGKKIPKDQKSELINCSAQFEANAFEAPLTFANADSGLLHSSVKRSCSQNDSEEPTLSLTSSFGTILRKCSRNETCSNNTVISQDLDYKEAKCNKEKLQLFITPEADSLSCLQEGQCENDPKSKKVSDIKEEVLAAACHPVQHSKVEYSDTDFQSQKSLLYDHENASTLILTPTSKDVLSNLVMISRGKESYKMSDKLKGNNYESDVELTKNIPMEKNQDVCALNENYKNVELLPPEKYMRVASPSRKVQFNQNTNLRVIQKNQEETTSISKITVNPDSEELFSDNENNFVFQVANERNNLALGNTKELHETDLTCVNEPIFKNSTMVLYGDTGDKQATQVSIKKDLVYVLAEENKNSVKQHIKMTLGQDLKSDISLNIDKIPEKNNDYMNKWAGLLGPISNHSFGGSFRTASNKEIKLSEHNIKKSKMFFKDIEEQYPTSLACVEIVNTLALDNQKKLSKPQSINTVSAHLQSSVVVSDCKNSHITPQMLFSKQDFNSNHNLTPSQKAEITELSTILEESGSQFEFTQFRKPSYILQKSTFEVPENQMTILKTTSEECRDADLHVIMNAPSIGQVDSSKQFEGTVEIKRKFAGLLKNDCNKSASGYLTDENEVGFRGFYSAHGTKLNVSTEALQKAVKLFSDIENISEETSAEVHPISLSSSKCHDSVVSMFKIENHNDKTVSEKNNKCQLILQNNIEMTTGTFVEEITENYKRNTENEDNKYTAASRNSHNLEFDGSDSSKNDTVCIHKDETDLLFTDQHNICLKLSGQFMKEGNTQIKEDLSDLTFLEVAKAQEACHGNTSNKEQLTATKTEQNIKDFETSDTFFQTASGKNISVAKESFNKIVNFFDQKPEELHNFSLNSELHSDIRKNKMDILSYEETDIVKHKILKESVPVGTGNQLVTFQGQPERDEKIKEPTLLGFHTASGKKVKIAKESLDKVKNLFDEKEQGTSEITSFSHQWAKTLKYREACKDLELACETIEITAAPKCKEMQNSLNNDKNLVSIETVVPPKLLSDNLCRQTENLKTSKSIFLKVKVHENVEKETAKSPATCYTNQSPYSVIENSALAFYTSCSRKTSVSQTSLLEAKKWLREGIFDGQPERINTADYVGNYLYENNSNSTIAENDKNHLSEKQDTYLSNSSMSNSYSYHSDEVYNDSGYLSKNKLDSGIEPVLKNVEDQKNTSFSKVISNVKDANAYPQTVNEDICVEELVTSSSPCKNKNAAIKLSISNSNNFEVGPPAFRIASGKIVCVSHETIKKVKDIFTDSFSKVIKENNENKSKICQTKIMAGCYEALDDSEDILHNSLDNDECSTHSHKVFADIQSEEILQHNQNMSGLEKVSKISPCDVSLETSDICKCSIGKLHKSVSSANTCGIFSTASGKSVQVSDASLQNARQVFSEIEDSTKQVFSKVLFKSNEHSDQLTREENTAIRTPEHLISQKGFSYNVVNSSAFSGFSTASGKQVSILESSLHKVKGVLEEFDLIRTEHSLHYSPTSRQNVSKILPRVDKRNPEHCVNSEMEKTCSKEFKLSNNLNVEGGSSENNHSIKVSPYLSQFQQDKQQLVLGTKVSLVENIHVLGKEQASPKNVKMEIGKTETFSDVPVKTNIEVCSTYSKDSENYFETEAVEIAKAFMEDDELTDSKLPSHATHSLFTCPENEEMVLSNSRIGKRRGEPLILV|gflgllpstir* 01BR009 ENSG00000160145.15 ENSG00000065485.20 +/+ +/+ chr3:124334495 chr3:123154971 CDS/splice-site CDS/splice-site duplication 1 2 0 5 191 high out-of-frame . CRAL/TRIO_domain(100%),Spectrin_repeat(100%)|Thioredoxin(100%) . . ENSG00000160145.15 ENSG00000065485.20 ENST00000360013.7 ENST00000316218.12 downstream upstream . ^(GCAGGCATTTGCTTAGAGCAGGCTGTGTGCGAGCCCAGCGTCAAGTGATTCCGGCCTCCTCGAGTCAGCGGTGGTGGGATGAGGCTCTGCCGAGGGGACTGGCTGTGAAGGATGAGTTCAGGGTGGGATGACGGACCGCTTCTGGGACCAGTGGTATCTCTGGTATCTCCGCTTGCTCCGGCTGCTGGATCGAG___GGTCTTTTCGGAATGATGGTTTGAAAGCTTCTGATGTCCTTCCTATCCTAAAGGAAAAGGTGGCCTTCGTGTCTG___GGGGTCGTGATAAGCGAGGCGGACCCATCCTGACCTTCCCTGCTCGCAGCAATCATGACAGAATAAGACAGGAAGACCTGCGGAAACTCGTGACGTATTTGGCCAGCGTGCCAAG___TGAGGACGTGTGCAAACGTGGCTTCACTGTCATCATCGACATGCGGGGCTCCAAGTGGGACCTCATCAAGCCCCTCCTCAAAACGCTGCAGGAAGCCTTTCCAGCTGAGATCCATGTGGCCCTCATCATTAAACCCGACAACTTCTGGCAGAAACAGAAGACCAACTTTGGCAGCTCCAAATTCATCTTTGAG___ACGAGCATGGTATCTGTGGAGGGCCTCACAAAGCTGGTGGACCCCTCCCAGCTGACGGAGGAGTTTGATGGCTCCCTGGACTACAACCATGAGGAGTGGATCGAACTGCGGCTCTCCCTGGAGGAGTTCTTCAACAGCGCCGTGCACCTGCTCTCGCGCCTCGAGGACCTCCAGGAGATGCTAGCCCGGAAGGAGTTTCCTGTGGATGTGGAGGGCTCTCGGCGGCTCATTGACGAACACACACAGCTCAAGAAAAAGGTGCTGAAGGCCCCTGTGGAGGAGCTGGACCGGGAGGGGCAGCGGCTGCTGCAGTGCATCCGCTGCAGCGACGGCTTCTCAGGACGCAACTGCATCCCGGGCAGTGCTGACTTCCAGAGCCTGGTGCCCAAGATCACCAGTCTCCTGGACAAGCTGCACTCCACCCGGCAGCACCTGCACCAGATGTGGCATGTGCGCAAGCTCAAGCTGGACCAGTGCTTTCAGCTGCGGCTCTTCGAGCAGGATGCTGAGAAG___ATGTTTGACTGGATAAGCCACAACAAGGAGTTATTCCTCCAGAGCCACACGGAGATCGGAGTCAGCTACCAGTACGCCCTTGACCTCCAGACGCAGCACAATCACTTTGCCATGAACTCCATG___AATGCCTATGTCAACATCAACCGCATCATGTCCGTGGCTTCCCGCCTCTCTGAGGCCGGTCATTATGCCTCACAACAAATCAAGCAGATCTCCACCCAGCTGGACCAGGAGTGGAAGAGCTTCGCTGCTGCCCTGGATGAACGCAGCACCATCCTCGCCATGTCTGCTGTGTTCCACCAGAAGGCTGAGCAG___TTCCTGTCGGGAGTGGATGCCTGGTGCAAGATGTGCAGTGAAGGTGGTCTGCCATCCGAGATGCAAGACCTAGAGCTGGCAATCCACCACCACCAGACCTTGTATGAGCAGGTGACCCAAGCCTACACAGAG___GTCAGCCAGGATGGCAAAGCACTACTTGATGTGCTGCAGCGGCCCCTGAGCCCTGGGAACTCCGAATCCCTCACGGCCACAGCCAACTACTCCAAGGCAGTGCACCAGGTGCT)GGACGTGGTGCATGAGGTGTTACATCACCAGCGACGGCTGGAGAGCATCTGGCAGCACCGCAAGGTGCGGCTCCACCAGCGGCTGCAGCTCTGCGTCTTCCAGCAGGATGTACAGCAG|GGTGCCCACACTGTAAGAAGGTCATTCCGCACTTTACTGCTACTGCTGATGCCTTCAAAGATGACCGAAAG___ATTGCCTGTGCCGCTGTTGACTGTGTCAAAGACAAGAACCAAGACCTGTGCCAGCAGGAGGCGGTCAAGGGCTACCCCACTTTCCACTACTACCACTATGGGAAGTTCGCAGAAAAGTATGACAGCGACCGCACA MTDRFWDQWYLWYLRLLRLLDRGSFRNDGLKASDVLPILKEKVAFVSGGRDKRGGPILTFPARSNHDRIRQEDLRKLVTYLASVPSEDVCKRGFTVIIDMRGSKWDLIKPLLKTLQEAFPAEIHVALIIKPDNFWQKQKTNFGSSKFIFETSMVSVEGLTKLVDPSQLTEEFDGSLDYNHEEWIELRLSLEEFFNSAVHLLSRLEDLQEMLARKEFPVDVEGSRRLIDEHTQLKKKVLKAPVEELDREGQRLLQCIRCSDGFSGRNCIPGSADFQSLVPKITSLLDKLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWISHNKELFLQSHTEIGVSYQYALDLQTQHNHFAMNSMNAYVNINRIMSVASRLSEAGHYASQQIKQISTQLDQEWKSFAAALDERSTILAMSAVFHQKAEQFLSGVDAWCKMCSEGGLPSEMQDLELAIHHHQTLYEQVTQAYTEVSQDGKALLDVLQRPLSPGNSESLTATANYSKAVHQVLDVVHEVLHHQRRLESIWQHRKVRLHQRLQLCVFQQDVQQ|gahtvrrsfrtlllllmpskmterlpvplltvsktrtktcasrrrsratplsttttmgssqksmtata 01BR009 ENSG00000160145.15 ENSG00000065485.20 +/+ +/+ chr3:124334495 chr3:123161321 CDS/splice-site CDS/splice-site duplication 1 1 0 5 197 medium in-frame . CRAL/TRIO_domain(100%),Spectrin_repeat(100%)|Thioredoxin(100%) . . ENSG00000160145.15 ENSG00000065485.20 ENST00000360013.7 ENST00000316218.12 downstream upstream . ^(GCAGGCATTTGCTTAGAGCAGGCTGTGTGCGAGCCCAGCGTCAAGTGATTCCGGCCTCCTCGAGTCAGCGGTGGTGGGATGAGGCTCTGCCGAGGGGACTGGCTGTGAAGGATGAGTTCAGGGTGGGATGACGGACCGCTTCTGGGACCAGTGGTATCTCTGGTATCTCCGCTTGCTCCGGCTGCTGGATCGAG___GGTCTTTTCGGAATGATGGTTTGAAAGCTTCTGATGTCCTTCCTATCCTAAAGGAAAAGGTGGCCTTCGTGTCTG___GGGGTCGTGATAAGCGAGGCGGACCCATCCTGACCTTCCCTGCTCGCAGCAATCATGACAGAATAAGACAGGAAGACCTGCGGAAACTCGTGACGTATTTGGCCAGCGTGCCAAG___TGAGGACGTGTGCAAACGTGGCTTCACTGTCATCATCGACATGCGGGGCTCCAAGTGGGACCTCATCAAGCCCCTCCTCAAAACGCTGCAGGAAGCCTTTCCAGCTGAGATCCATGTGGCCCTCATCATTAAACCCGACAACTTCTGGCAGAAACAGAAGACCAACTTTGGCAGCTCCAAATTCATCTTTGAG___ACGAGCATGGTATCTGTGGAGGGCCTCACAAAGCTGGTGGACCCCTCCCAGCTGACGGAGGAGTTTGATGGCTCCCTGGACTACAACCATGAGGAGTGGATCGAACTGCGGCTCTCCCTGGAGGAGTTCTTCAACAGCGCCGTGCACCTGCTCTCGCGCCTCGAGGACCTCCAGGAGATGCTAGCCCGGAAGGAGTTTCCTGTGGATGTGGAGGGCTCTCGGCGGCTCATTGACGAACACACACAGCTCAAGAAAAAGGTGCTGAAGGCCCCTGTGGAGGAGCTGGACCGGGAGGGGCAGCGGCTGCTGCAGTGCATCCGCTGCAGCGACGGCTTCTCAGGACGCAACTGCATCCCGGGCAGTGCTGACTTCCAGAGCCTGGTGCCCAAGATCACCAGTCTCCTGGACAAGCTGCACTCCACCCGGCAGCACCTGCACCAGATGTGGCATGTGCGCAAGCTCAAGCTGGACCAGTGCTTTCAGCTGCGGCTCTTCGAGCAGGATGCTGAGAAG___ATGTTTGACTGGATAAGCCACAACAAGGAGTTATTCCTCCAGAGCCACACGGAGATCGGAGTCAGCTACCAGTACGCCCTTGACCTCCAGACGCAGCACAATCACTTTGCCATGAACTCCATG___AATGCCTATGTCAACATCAACCGCATCATGTCCGTGGCTTCCCGCCTCTCTGAGGCCGGTCATTATGCCTCACAACAAATCAAGCAGATCTCCACCCAGCTGGACCAGGAGTGGAAGAGCTTCGCTGCTGCCCTGGATGAACGCAGCACCATCCTCGCCATGTCTGCTGTGTTCCACCAGAAGGCTGAGCAG___TTCCTGTCGGGAGTGGATGCCTGGTGCAAGATGTGCAGTGAAGGTGGTCTGCCATCCGAGATGCAAGACCTAGAGCTGGCAATCCACCACCACCAGACCTTGTATGAGCAGGTGACCCAAGCCTACACAGAG___GTCAGCCAGGATGGCAAAGCACTACTTGATGTGCTGCAGCGGCCCCTGAGCC)CTGGGAACTCCGAATCCCTCACGGCCACAGCCAACTACTCCAAGGCAGTGCACCAGGTGCTGGACGTGGTGCATGAGGTGTTACATCACCAGCGACGGCTGGAGAGCATCTGGCAGCACCGCAAGGTGCGGCTCCACCAGCGGCTGCAGCTCTGCGTCTTCCAGCAGGATGTACAGCAG|ATTGCCTGTGCCGCTGTTGACTGTGTCAAAGACAAGAACCAAGACCTGTGCCAGCAGGAGGCGGTCAAGGGCTACCCCACTTTCCACTACTACCACTATGGGAAGTTCGCA(GAAAAGTATGACAGCGACCGCACA___GAATTGGGATTTACCAATTATATTCGAGCCCTCCGGGAGGGAGACCATGAAAGACTAGGGAAAAAGAAGGAAGAGTTATAATTCCTGCCTCAGAAAAAGCTTTTCCATTACACTGTGAATGATACCTGTTTTGTTGTTTCTGAATTTCCACATGTTCTGAAGACAAATTTTTTATAGCCGCTTATGGCCATTTTGTACAATTTTGAAATAAAATTAAACCATTTA)$ MTDRFWDQWYLWYLRLLRLLDRGSFRNDGLKASDVLPILKEKVAFVSGGRDKRGGPILTFPARSNHDRIRQEDLRKLVTYLASVPSEDVCKRGFTVIIDMRGSKWDLIKPLLKTLQEAFPAEIHVALIIKPDNFWQKQKTNFGSSKFIFETSMVSVEGLTKLVDPSQLTEEFDGSLDYNHEEWIELRLSLEEFFNSAVHLLSRLEDLQEMLARKEFPVDVEGSRRLIDEHTQLKKKVLKAPVEELDREGQRLLQCIRCSDGFSGRNCIPGSADFQSLVPKITSLLDKLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWISHNKELFLQSHTEIGVSYQYALDLQTQHNHFAMNSMNAYVNINRIMSVASRLSEAGHYASQQIKQISTQLDQEWKSFAAALDERSTILAMSAVFHQKAEQFLSGVDAWCKMCSEGGLPSEMQDLELAIHHHQTLYEQVTQAYTEVSQDGKALLDVLQRPLSPGNSESLTATANYSKAVHQVLDVVHEVLHHQRRLESIWQHRKVRLHQRLQLCVFQQDVQQ|IACAAVDCVKDKNQDLCQQEAVKGYPTFHYYHYGKFAEKYDSDRTELGFTNYIRALREGDHERLGKKKEEL* 01BR009 ENSG00000131941.8 ENSG00000166359.11 -/- +/- chr19:33064784 chr19:33149006 CDS/splice-site intron duplication/5'-5' 2 1 0 12 7 high out-of-frame . . . . ENSG00000131941.8 ENSG00000166359.11 ENST00000254260.8 . upstream downstream . ^(AGTCCGCCGTCCGC)CCTCCGCGCCCGCGCCGCTAGCATGACCGACGCGCTGTTGCCCGCGGCCCCCCAGCCGCTGGAGAAGGAGAACGACGGCTACTTTCGGAAG|TTTCACCAAATAAAGCAATGGAAGGTCACCGTCAGTCAGTGACAAGTGGCTATTCCTATGGCAGACTGAAGATACAGGGAGCCCGCACACCCTCACCTTTGATGACGGAAAC MTDALLPAAPQPLEKENDGYFRK|fhqikqwkvtvsq* 01BR009 ENSG00000273167.1 ENSG00000197580.13 +/+ +/+ chr13:24100868 chr11:112223933 intron 3'UTR/splice-site translocation 1 1 0 2 1 high . . . . . ENSG00000273167.1 ENSG00000197580.13 . ENST00000531169.5 downstream upstream duplicates(1) TTTGCTCTTACCTGAGCTCCTCACTCCCGTGCTGCCTGTAACTTTCCCCACTGTTGCAAGATGCATTTCACTGCACATCTTCATCCAAGCTTCCCACCCTCCTTCTGGTGAACTCTTGCCTTGA|GAAACTTTTCCAAGCCTGTTATTAATCAGTGACTTGTCCTGCTTTTCATCATATACAGTGATGATTTTTCTCATATAGAGTGGAGCTGTCCTCTCCAGTACCTGGAACAATGCCAGCCACATAGTAGATGCCCAATAAATATTTAGTGAAAGAGTGAATGGAAGCAAGAGGTGACATGATTCTGGG(AACTGTGTGTAGTTTGGTTACTCTTGTGAGTAGATGTGAGGAAACAAGATCCTTTCACTCTCAATGTGTCTACACTGGCAGAAGAATTGCTAATATGTGTTTAGGGGTGTCTGTATTCACACTATGCCAACCCAGAGTAATAAATGGGTCCATACATGCTTGTGGATAAGAATGGCTTTAGAATTTCCCTTAGTAAGGATCATTACACAACAGTCCAAAGGACTGTTGTCACGTGGTCCTATTTGTGCTCTCAAATTCTTGCTCTTTAAAAATTTTTTTTTAAAGAAACGGTATTAATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCGAACTATACTACAAGCCTACAGTAACAAAAACAGCATGGTATGGGTACCAAAACAGATATATACACCAATGGAACACAACAGAGGCCTCAGAAATAACACCACACATCTACAACCATCTGATCTTAGACAAACCTGATAAAAACAAGAAATGGGGAAAGGATTCCCTATTAAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACA)$ . 01BR009 ENSG00000108559.12 ENSG00000005100.13 -/- -/- chr17:5402814 chr17:5442456 intron 3'UTR duplication 20 3 1 33 49 medium . . Nuclear_pore_component(100%)| . . ENSG00000108559.12 ENSG00000005100.13 . ENST00000225296.8 upstream downstream duplicates(4) CCCCAAATGGATTTTTAAAATGTGGCATTGTATACACAGTGGAATACCATTTGGCTTTTGTGTGTGTGTGTGTGATATGATCTCACTGTGTCATCTAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCTTTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTCTGGAGTAGCTGGGACTACAGGTGTGCACCACCACGCCTAATTTTTGTATTTTTGGTAGATACGGGATTTTGCCAT|ATCTTACTGAATTCTTAAACTTTGAACCAGTTCTTCCACTTACTGACTTGTTACCACTGCTGACTTTCTGAAAAGTTTTCCAGTTTTTGTTTTTTGTTTTTTGTTTTCCAGTAGGGGATTAGAATGTTTAGTCCTACTTAGTAAGAAAAATATTGTATTTTTAATCATTCATAGTGCTGG(TAAAAAAAAAAAAAAAAAAAAAAAAATTGGGGGGTGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTCATGCCTGTAATCCCAGCATTGGGATGGGAGGCTGAGGTGGGTGGATTGCTTGAGAAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAGAAAACTTAGCTGGGCATGGTGGCACACGCCTGTAATCCCAGCTACCGGGGAGGCTGAGGCACAAGAATTGCTTGAACTTGGGAGGCAGAGTTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGCCGACAGTGTGAGACGGTCTCAGAAAAAAAAAGAAAGAAAGAAAGAAAAAGAAAAAACTTGGGGTAATTTATGTCCAGCTTAAGTACCTGAACAGTTTCCGGAAATGTATATTTTTTTTCTGAGAGGCAAAGGATGTAAACAGCTTCTAAGTAGCTTTAATGTTTCTGTACAGAAATAAGTTTATCCCTGTAACATTGTGGTAGAGTTTTAATACAGTATTTAGTTTTTTATTGGGCTTTTTTAAAAAGTTAACTTTTAACATAGCTGCTCAGGGATTAAATCAGATTGGAAAACCCATTCTGACTCCACATACTGCTACAAAGAAATACATCGTTGTTTATATTGAGCTGCAGGAGATAGTACACTTTAAACTTAAGAAAGTTAAATGTTTCACAATAACATTGCAATATAATCTTCAGCTACTCTCTTTCCATTGGTAAAATCTCTGATGGTGTGATAACTCTTTGCCAACCTACGAAACCCATATCTGGAAGAATCACCAGCTCCCGTGAGCAGCTTCATGTAAATAGATGCACTCCAAGCAGATTGCATGCCTCAGGTGTTTGTCTTCTAGTAATCATGGAGTGTGCAACACCCAGAGTAACACTACAAGGGGCAGGACTGCAAACAGCAGGTCCTGGCTAAAAACCCTTAATGCTGCATTGCTGCCAGTTGTAAAGAGATGCCTGAATGGAGGCAAGTTCTGCCCTGTGGGTGAAACTGATGATGTACTGTACTGTCATATATAAATCCACTAAATCCAGCTACCAGGAACTGCCTGGAACTGTGGCCATGCATTTTTTTTTTTCTTTAAAGACCAGTGTGATAGTAGGCCATGCATCTGAGATACGATATTCCTTGGTAACTAGAGGGAGAAAAAAAAATCAAGTAGGTTCAGGCTTATGTTGTATTTTGAGAGTCTGGTTTTATTTGAACAGAAATAACTCTACAGAAAGCTCTTGTAAATAATGCTCAAATTTGCACCCGACGATCAAATCCATTAAAAATGAATCTTGTA)$ . 01BR009 ENSG00000132975.8 ENSG00000116668.13 -/- +/+ chr13:26757408 chr1:185224897 3'UTR intron translocation 1 6 0 71 13 medium stop-codon . 7_transmembrane_receptor_(rhodopsin_family)(100%)| . . ENSG00000132975.8 ENSG00000116668.13 ENST00000405846.5 . upstream upstream mismatches(1) ^(GAAAGCTGGGCGCGCGAGCCGAGGCTGCTGCTCACCTGCAGCCGCGCCGCTCACCTGCCGCGGAGTGCGCGCCCCGCGCCCTCCCGGCCCGCTCCGGAGCCCGGCCGCCCCCCCCTTGCCACAGCGGGCAACTGCGCCGACATGCGACACGAGTAGCCCACGCGCTTCGGAAGCACCGGAGGAGCCCCCTCGGCCTGGGCGAGCCAAG___AGGACAGGGGTTAAAATGAATGAAGACCTGAAGGTCAATTTAAGCGGGCTGCCTCGGGATTATTTAGATGCCGCTGCTGCGGAGAACATCTCGGCTGCTGTCTCCTCCCGGGTTCCTGCCGTAGAGCCAGAGCCTGAGCTCGTAGTCAACCCCTGGGACATTGTCTTGTGTACCTCGGGAACCCTCATCTCCTGTGAAAATGCCATTGTGGTCCTTATCATCTTCCACAACCCCAGCCTGCGAGCACCCATGTTCCTGCTAATAGGCAGCCTGGCTCTTGCAGACCTGCTGGCCGGCATTGGACTCATCACCAATTTTGTTTTTGCCTACCTGCTTCAGTCAGAAGCCACCAAGCTGGTCACGATCGGCCTCATTGTCGCCTCTTTCTCTGCCTCTGTCTGCAGCTTGCTGGCTATCACTGTTGACCGCTACCTCTCACTGTACTACGCTCTGACGTACCATTCGGAGAGGACGGTCACGTTTACCTATGTCATGCTCGTCATGCTCTGGGGGACCTCCATCTGCCTGGGGCTGCTGCCCGTCATGGGCTGGAACTGCCTCCGAGACGAGTCCACCTGCAGCGTGGTCAGACCGCTCACCAAGAACAACGCGGCCATCCTCTCGGTGTCCTTCCTCTTCATGTTTGCGCTCATGCTTCAGCTCTACATCCAGATCTGTAAGATTGTGATGAGGCACGCCCATCAGATAGCCCTGCAGCACCACTTCCTGGCCACGTCGCACTATGTGACCACCCGGAAAGGGGTCTCCACCCTGGCTATCATCCTGGGGACGTTTGCTGCTTGCTGGATGCCTTTCACCCTCTATTCCTTGATAGCGGATTACACCTACCCCTCCATCTATACCTACGCCACCCTCCTGCCCGCCACCTACAATTCCATCATCAACCCTGTCATATATGCTTTCAGAAACCAAGAGATCCAGAAAGCGCTCTGTCTCATTTGCTGCGGCTGCATCCCGTCCAGTCTCGCCCAGAGAGCGCGCTCGCCCAGTGATGTGTAGCACCCTTGCACCCAGGAGGACTCTGCATTTACCAAGCACTTCCACTGCCTGGCCAAGGTTTGAGATGCTTCCCTTGAATTCCTTGCATTGGATTCCCTCTCAAGCCACAGGAGCACTTAGCATTCGTGAAACAATGACATCGTTCAGATGAGTTAAGTGATTGAAGTGAAAATAATGTTACCAGTGTTTTCACCATTAAAAAAAATTGTTGAGCTCTCCACTCAACATTATTTTGTTTTGCTTGGGGGCAAGGGTTTCCTTTTATACTTTGTTTGGAGGGCTGACTGGGGGTAGGAAAGGAAGGGATATGATACGCCCATGATGTTATTAGAAGTAAATGAGTTTCAGAGTTTTTACCTGGACTTTAAAATAAATTTGAGTGATTGAGGAAAATTGAGAAAGACTTACTTTTTCCAGACTATTTTTTTTTTTTACATGATGGTAGATTTTTTAATGCTGCATGTATGTAACAGAATATGACCCCTTTCAATCCAATACAAATAGTTTACATAATTGTGTTTGGAAGGGACCTGATTTTGCTAACATGAACTCAGTAATGTCACCGACACTGAAACCGTGAACCCATTCTTATCCATTCTTTCTTTCCTTTCGGCAATTACTGTTCACGAGAATTCCTTCGGTATTTCTATAAATGTTGCAACTCCTTCTGCATGGTCGACTGTGTTAGCTAGACCACTTGTTTCAAATGTTGCCATGTCAATCTAGATTCCAACGGGTCATTTTTCAATATAGTTTTCCAATATGTACTTTCTAAAATGAATCCTGAAGTAGGTTTTGATCTTCATATGAAGTAGGATTGATTAGATCCACCATTGTAGTTTCTTAAGCTATTGTCTGATTGTTTTCAGAAAACAAAAGGAAAAAATATTAGCAATTGAGAGTAGATTAAATTTATTTTAATATATTCTGAAAAAAACTAATGTGACATTATCATGAAATGAAAAAAATCACCTTTCCTCTCTCTCTGAGAATATACTAATGGTTATTCTTGATTGAGATAATTAGAATAAATATTATAGGCCAAGTTTTTCTGGTTCATACTGTCTGTGGTGCATAATGCATTTGAAACAGGCAGTCCCCTATTTTAATGATTAGGTTTGTTTGTCAGTGCACAGCGTCCATCTATGACTGTGACATATACCAGCTATATCCTGTAAGGTCATAAACAGAATGACCATTGGCTGTTGATGAAAAGTTAAGTTTGAAATCTTTTAACTCCTTTTCAC)CAAAAACCAATTTATACACAATAAAAATCACATTGCCTGTTTTCAGAGAACAAGAATGTAGTCAGGAAATTGCAAAGAAGAATTCACTTTAAACACATTGTAAAATCGATGTGTCTCAGGTTTCTTTTCTGTTCATGCAGACAAATGTAGACGCAGGTACCTTCCtgC|GTCTGTGAACAGGGATAATTTGACTTCCTTCTTTCCAATTTGGATGCCCTTCCTTTCCTTTTCTTGCCTAATTGCTATAAGACTTCCAGTACAATATTGAATACAAGTGGTAAAAGTAGGTGTTCTTGTTCCTTCAGTATGATGTTAACTATGGGTTTGTCATATATGGCCTTTATTGCATTGAGGTATGCTCCTTCTGTATCTAATTTTTTGGGAGTTTTTAATCATGAAGGGA . 01BR009 ENSG00000092330.18 ENSG00000288044.1 -/- +/- chr14:24242141 chr14:24279427 CDS/splice-site intron duplication/5'-5' 1 5 0 73 7 medium out-of-frame . . . . ENSG00000092330.18 ENSG00000288044.1 ENST00000626689.2 . upstream downstream . ^(CTCTTACCGCCCTTTTCCGGGGCAAGGGAAGCTAGTAGCGGAGCCGGAAGTGAGGCACCCTCGGGCTCGAGACAGCGGCGACGTTTAAAGCTGAGCGACCCAGTGCCACTGGAGACGGTCAGCTTCTCCACTCAGGCTCCTCCAGCCCGAGCCAGAAGACCCCCTCCCCCAGAATTCTGGGGGCCGATGGAAGGGAGCCGAGTCAGATCGCGAGGTACCCAGAGCCGACAGACCGGAGCGACAGGGAGTTGCCAGAAGCCCCGCCCCTAGGAGTGATCGGAAAGCCTCACCCATCCGGGTGAGGAACCCGGAGGGACCGCCTCCGGGCGGAGCCCGCCGACCATGGCTACGCCCCTGGTGGCGGGTCCCGCAGCTCTACGCTTCGCCGCCGCGGCTAGCTGGCAGGTTGTGCGCGGACGCTGCGT)GGAACATTTTCCGCGAGTACTGGAGTTTCTGCGATCTCTGCGCGCTGTTGCCCCTGGCTTGGTTCGCTACCGGCACCACGAACGCCTTTGTATGGGCCTAAAGGCCAAG|CCAGGAAGTGTGCTACAGGCACGTGGCAACCCCCATGGGCCATCAAGCAATTTCCCCAGCCTGACTCAGAAGGAACTGGGGAGCAGGGAGAAGAGAAAGAATGCAAGCATTCAAACCAAGTGTCCAAGGAATGGTCAGTTGTGGGGAATGGGCAGTGGAGAGGATCTTCTTGGGCTCTGAGTTACTCTAGTCCCCTGCTCCATCCCAGGGATCAGCATCTTTCAGAACTTCAGAGTGGAG MATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAVAPGLVRYRHHERLCMGLKAK|pgsvlqargnphgpssnfpsltqkelgsrekrknasiqtkcprngqlwgmgsgedllgl* 01BR009 ENSG00000163950.13 ENSG00000168924.15 -/- -/- chr4:1698943 chr4:1813852 intron 3'UTR duplication 3 2 0 5 74 medium . . . . . ENSG00000163950.13 ENSG00000168924.15 . ENST00000302787.3 upstream downstream duplicates(1) GTTGAAATTTACATTTCTGGGCCAGGTGCAATGGCTCATGCTTGTAATTCCAGCACTTTGGGAGGCCGAGAGGACTGCTTGAGGCCAGGAGACTAGCCTGGGCAATATAAGGAGACCTCATCTCTACAAAAAATTTAAAAATTAGCCAGGTGTGG|AGAGTGACGTCTCCCTGCTGGGAGTGCTGGTTCTCACGTGCGGTTTCCCTTGTGTATCGGAGCTCTTTCTCGGCTTTC?ATTTCCCCCAGTTCTTTAAGCAGTCAATTGGCACAGAGTTTCCCACGGGGGCTGCAGTGGATTCACTGTGTCAGGGATGAGCCTGGCTTGGGGGTTGGTGGG(GCTCTGAAGCGCATTTGGGGTTCTTTGTAGCTTCTAATGTGAGGTTTGAGTCCAGTGCGCCCACAGCAGCATGCCCTTCTCACCCCTTGCAGTGTTGCAGGCTCAGGCCCCTGGGCTCCTTCAGCAAGCAGGCTAGTCAATGAGGCATGAGGATCCGGCACAGGGCATCCCCTGGGGCTTCAAGGGCAATACCCCCGTGCTTAGGGTTTGCCCTGTGCCCTCTGGGTGGGGTGGCCTCCCCGCACTCGGCAGCATGGCCAGGCTGGCCAGGGCGTGGGCAGGTGGTGTCCTGTGGCACCTCCATCCTCCTGCCCAGCCGGCTGTGTCACACTCATCTTTTTAAGGTCAGGTTGGTTCCTGGCAAAAATGTACCTCCAGGGGCCTCCAAGCATAGGATTTGGAAGACAGGAACGGCACAGGCGTCCAGGAAAGCAGCTGCACTCAGACAATGCCTTCTCCATTACTTGAAGCTTCTTTCTGTTCAGCCATTAAAGAAACTTGACAAAATAGGAACAGGAGATATTTCTCAATTGTAAACCTTTGTGCAGGGACAGTTGGCTTCCAGAGGCTTTCAGCTTTCAGTTATTTGAGAAGTTTGTTTTAGATCCTTAACTAATATTTATGAATTCTCTCACCCTGTGTAAGTAGCCTGGTGTTCGTTTGTCCAAGTGTACTTACCCTTGAGAACAAGTCTTGCAGTTGCCAGGTGTGTGCAGACGCCTCTCCTGTGAGCGGCATCGCGGGCCCAGTCAGCTGCCCCGGCTCTCATCCTCGTCCTCACTGCCTTGGCTGAGCACTGTTGACGTGAACAGCCACTGCAACAGGCAGCCCATCCCACTGTCCCCTCTGCCCTGGACTCCGCATGGCCTCCAAAAGCCAGCTTGCCCTCCGGGTGCTGCAGGGGCTTTGCAGGTGGGGAAGGCTCTGGTGGGTGCCTTTGGTGGCTTCCGTGACATCAGCCGTGCTCTGATGCAGGCTTGCTCCCTCGTCATTCTCCCTCGTCATTCTCCCTCATCGTTCTGTGTGCATTTTTCTCTATGTCCTGACCTTTCTTCTTGCACCTAAAAGTGGTGTCTGGGTGCAAATGTAAGCAGTGGTGGATCCAGAAATATGAGCTTTGTGTAATAAGCTTCTTAAAACAGTCCTTTCTTACACCTGCCCAGGGCCAGACCCTCGGTCTTGGCCTTTTTCAGGAGCTAGGATATCTGCGCCTGGTGAAAATGAAACGAATTCCTGATTTAGGAATTCAGTGTTTCCTCCTCACTCCAGCTAAGCACTCACTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAATTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCCAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCCAGGACTACAAGCACCCGCCACCACACCTGGCTAATTTTTTTGTATTTTTATTAGAGACAGTGTTTTACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCTACTCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCAAGTTTTTATTAGAGATGGGGTTTCATCATGTTGGTCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTGAACTCTCAGTTCTAACGCAGGGATTCAGGAATTGGGCTTTCAGACTCCTTCTGCAGTGTCACAGTCCAGACTTTTTTTAAATGAAGGACACCCCGCAGTGGCTCACAGTGGGTCCCAGGGCTAGCAGGAGCGTGCTGGGGAGCCGGCTCTGTCTTTGTTCGCAGTGGGTCCCGGTGCTGGCAGGAGTGTGCTGGTGAGCCGGCTCTGTCTTTGTAAATCCTTCAGGGGTCCTACGGCTGACTCCACCGGACAGCCCGTCCTGGGCCGTGTTAAGCACCTTTTGTAGAAATCGTATTTTTATTAAAACATCAAATCTGTGTTCCTGTAA)$ . 01BR009 ENSG00000163939.18 ENSG00000034713.8 -/- +/+ chr3:52586425 chr16:75577279 CDS/splice-site CDS/splice-site translocation 3 1 0 23 520 medium out-of-frame . BAH_domain(100%),Bromodomain(100%)|Autophagy_protein_Atg8_ubiquitin_like(100%) . . ENSG00000163939.18 ENSG00000034713.8 ENST00000394830.7 ENST00000037243.7 upstream upstream . ^(AGGAGCAATAGCAGCAGCCGTGGCGGCCACGGGGCGGGGCGCGGCGGTCGGTGACCGCGGCCGGGGCTGCAGGCGGCGGAGCGGCTGG___AAGTTGGATTCCATGGGTTCCAAGAGAAGAAGAGCTACCTCCCCTTCCAGCAGTGTCAGCGGGGACTTTGATGATGGGCACCATTCTGTGTCAACACCAGGCCCAAGCAGGAAAAGGAGGAGACTTTCCAATCTTCCAACTGTAGATCCT___ATTGCCGTGTGCCATGAACTCTATAATACCATCCGAGACTATAAGGATGAACAGGGCAGACTTCTCTGTGAGCTCTTCATTAGGGCACCAAAGCGAAG___AAATCAACCAGACTATTATGAAGTGGTTTCTCAGCCCATTGACTTGATGAAAATCCAACAGAAACTAAAAATGGAAGAGTATGATGATGTTAATTTGCTGACTGCTGACTTCCAGCTTCTTTTTAACAATGCAAAGTCCTATTATAAG___CCAGATTCTCCTGAATATAAAGCCGCTTGCAAACTCTGGGATTTGTACCTTCGAACAAGAAATGAGTTTGTTCAGAAAGGAGAAGCAGATGACGAAGATGATGATGAAGATGGGCAAGACAATCAGGGCACAGTGACTGAAGGA___TCTTCTCCAGCTTACTTGAAGGAGATCCTGGAGCAGCTTCTTGAAGCCATAGTTGTAGCTACAAATCCATCAGGACGTCTCATTAGCGAACTTTTTCAGAAACTGCCTTCTAAAGTG___CAATATCCAGATTATTATGCAATAATTAAGGAGCCTATAGATCTCAAGACCATTGCCCAGAGGATACAG___AATGGAAGCTACAAAAGTATTCATGCAATGGCCAAAGATATAGATCTCCTCGCAAAAAATGCCAAAACTTATAATGAGCCTGGCTCTCAAGTATTCAAG___GATGCAAATTCAATTAAAAAAATATTTTATATGAAAAAGGCTGAAATTGAACATCATGAAATGGCTAAGTCAAGTCTTCGAATGAG___GACTCCATCCAACTTGGCTGCAGCCAGACTGACAGGTCCTTCACACAGTAAAGGCAGCCTTGGTGAAGAGAGAAATCCCACTAGCAAGTATTACCG___TAATAAAAGAGCAGTACAAGGAGGTCGTTTATCAGCAATTACAATGGCACTTCAATATGGCTCAGAAAGTGAAGAAGATGCTGCTTTAGCTG___CTGCACGCTATGAAGAGGGAGAGTCAGAAGCAGAAAGCATCACTTCCTTTATGGATGTTTCAAATCCTTTTTATCAGCTTTATGACACAGTTAGGAGTTGTCGGAATAACCAAGGGCAGCTAATAGCTGAACCTTTTTACCATTTGCCTTCAAAGAAAAAATACCCTGATTATTACCAGCAAATTAAAATGCCCATATCACTACAACAGATCCG___AACAAAACTGAAGAATCAAGAATATGAAACTTTAGATCATTTGGAGTGTGATCTGAATTTAATGTTTGAAAATGCCAAACGCTATAATGTGCCCAATTCAGCCATCTACAAGCGAGTTCTAAAATTGCAGCAAGTTATGCAG___GCAAAGAAGAAAGAGCTTGCCAGGAGAGACGATATCGAGGACGGAGACAGCATGATCTCTTCAGCCACCTCTGATACTGGTAGTGCCAAAAGAAAAAG___TAAAAAGAACATAAGAAAGCAGCGAATGAAAATCTTATTCAATGTTGTTCTTGAAGCTCGAGAGCCAGGTTCAGGCAGAAGACTTTGTGACCTATTTATGGTTAAACCATCCAAAAAGGACTATCCTGATTATTATAAAATCATCTTGGAGCCAATGGACTTGAAAATAATTGAGCATAACATCCGCAATGACAAATATGCTGGTGAAGAGGGAATGATAGAAGACATGAAGCTGATGTTCCGGAATGCCAGGCACTATAATGAGGAGGGCTCCCAG___GTTTATAATGATGCACATATCCTGGAGAAGTTACTCAAGGAGAAAAGGAAAGAGCTGGGCCCACTGCCTGATGATGATGACATGGCTTCTCCCAAACTCAAGCTGA___GTAGGAAGAGTGGCATTTCTCCTAAAAAATCAAAATACATGACTCCAATGCAGCAGAAACTAAATGAGGTCTATGAAGCTGTAAAGAACTATACTGATAAGAGGGGTCGCCGCCTCAGTGCCATATTTCTGAGGCTTCCCTCTAGATCTGAGTTGCCTGACTACTATCTGACTATTAAAAAGCCCATGGACATGGAAAAAATTCGAAGTCACATGATGGCCAACAAGTACCAAGATATTGACTCTATGGTTGAGGACTTTGTCATGATGTTTAATAATGCCTGTACATACAATGAGCCGGAGTCTTTGATCTACAAAGATGCTCTTGTTCTACACAAAGTCCTGCTTGAAACACGCAGAGACCTGGAGGGAGATGAGGACTCTCATGTCCCAAATGTGACTTTGCTGATTCAAGAGCTTATCCACAATCTTTTTGTGTCAGTCATGAGTCATCAGGATGATGAGGGAAGATGCTACAGCGATTCTTTAGCAGAAATTCCTGCTGTGGATCCCAACTTTCCTAACAAACCACCCCTTACATTTGACATAATTAGGAAGAATGTTGAAAATAATCGCTACCGTCGGCTTGATTTATTTCAAGAGCATATGTTTGAAGTATTGGAACGAGCAAGAAGGATGAATCG___GACAGATTCAGAAATATATGAAGATGCAGTAGAACTTCAGCAGTTTTTTATTAAAATTCGTGATGAACTCTGCAAAAATGGAGAGATTCTTCTTTCACCGGCACTCAGCTATACCACAAAACATTTGCATAATGATGTGGAGAAAGAGAGAAAGGAAAAATTGCCAAAAGAAATAGAGGAAGATAAACTAAAACGAGAAGAAGAAAAAAGAG___AAGCTGAAAAGAGTGAAGATTCCTCTGGTGCTGCAGGCCTCTCAGGCTTACATCGCACATACAGCCAGGACTGTAGCTTTAAAAACAGCATGTACCATGTTGGAGATTACGTCTATGTGGAACCTGCAGAGGCCAACCTACAACCACATATCGTCTGTATTGAAAGACTGTGGGAGGATTCAGCTG___AAAAAGAAGTTTTTAAGAGTGACTATTACAACAAAGTTCCAGTTAGTAAAATTCTAGGCAAGTGTGTGGTCATGTTTGTCAAG___GAATACTTTAAGTTATGCCCAGAAAACTTCCGAGATGAGGATGTTTTTGTCTGTGAATCA)CGGTATTCTGCCAAAACCAAATCTTTTAAGAAAATTAAACTGTGGACCATGCCCATCAGCTCAGTCAGGTTTGTCCCTCGGGATGTGCCTCTGCCTGTGGTTCGCGTGGCCTCTGTATTTGCAAATGCAGATAAAGGTGATGATGAGAAGAATACAGACAACTCAGAGGACAGTCGAGCTGAAGACAATTTTAACTTGGAAAAG|CCTAACTATGGGACAGCTTTACGAGAAGGAAAAAGATGAAGATGGATTCTTATATGTGGCCTACAGCGGAGAGAACACTTTTGGCTTCTGAGGGCCATTGCTGG(GCTAGGTGCACCGTAACTGCTTGTGTATCTTGTAAATAGCCAGCCATTTTCAGTTATTATACCAGAACCTCTTCACATAGACCTATTAGTGCATTTGTAACTGGATTTATTTCTTAATATATTGGAAGGTTTTGTTTCCTTAGACTAGTAAATTATCATACAGAGTTTTATTTTGAGTTTTTCTTTTTGTGCATTGTCCTCATGCCTGTATTCTCCAGGAAACTTGTCCTTCTGGAAATCATATTGAATGATATTTCTATATCGAAGTGAGGTAGGTGCGGTATTAAAGTGAAAGGGAAGGTGATGCATTTATTCTGGGTTATGCTTGAAGTGTTAGATGGCTAAGTATTAAAATTATCCAAATTAAATCCTTAGCAGTCAGAACACTTGCTTCACTAGAATATGCCAACTGCCAATCATGTTGGACTGAGCTAATTTGTTCCTCTTTCTGAAACTATTAAGGTAAATAATTAACAATAAAAATTCTCTTATAAAGGCA)$ MGSKRRRATSPSSSVSGDFDDGHHSVSTPGPSRKRRRLSNLPTVDPIAVCHELYNTIRDYKDEQGRLLCELFIRAPKRRNQPDYYEVVSQPIDLMKIQQKLKMEEYDDVNLLTADFQLLFNNAKSYYKPDSPEYKAACKLWDLYLRTRNEFVQKGEADDEDDDEDGQDNQGTVTEGSSPAYLKEILEQLLEAIVVATNPSGRLISELFQKLPSKVQYPDYYAIIKEPIDLKTIAQRIQNGSYKSIHAMAKDIDLLAKNAKTYNEPGSQVFKDANSIKKIFYMKKAEIEHHEMAKSSLRMRTPSNLAAARLTGPSHSKGSLGEERNPTSKYYRNKRAVQGGRLSAITMALQYGSESEEDAALAAARYEEGESEAESITSFMDVSNPFYQLYDTVRSCRNNQGQLIAEPFYHLPSKKKYPDYYQQIKMPISLQQIRTKLKNQEYETLDHLECDLNLMFENAKRYNVPNSAIYKRVLKLQQVMQAKKKELARRDDIEDGDSMISSATSDTGSAKRKSKKNIRKQRMKILFNVVLEAREPGSGRRLCDLFMVKPSKKDYPDYYKIILEPMDLKIIEHNIRNDKYAGEEGMIEDMKLMFRNARHYNEEGSQVYNDAHILEKLLKEKRKELGPLPDDDDMASPKLKLSRKSGISPKKSKYMTPMQQKLNEVYEAVKNYTDKRGRRLSAIFLRLPSRSELPDYYLTIKKPMDMEKIRSHMMANKYQDIDSMVEDFVMMFNNACTYNEPESLIYKDALVLHKVLLETRRDLEGDEDSHVPNVTLLIQELIHNLFVSVMSHQDDEGRCYSDSLAEIPAVDPNFPNKPPLTFDIIRKNVENNRYRRLDLFQEHMFEVLERARRMNRTDSEIYEDAVELQQFFIKIRDELCKNGEILLSPALSYTTKHLHNDVEKERKEKLPKEIEEDKLKREEEKREAEKSEDSSGAAGLSGLHRTYSQDCSFKNSMYHVGDYVYVEPAEANLQPHIVCIERLWEDSAEKEVFKSDYYNKVPVSKILGKCVVMFVKEYFKLCPENFRDEDVFVCESRYSAKTKSFKKIKLWTMPISSVRFVPRDVPLPVVRVASVFANADKGDDEKNTDNSEDSRAEDNFNLEK|pnygtalregkr* 01BR009 ENSG00000048707.15 ENSG00000225478.2(31393),ENSG00000009709.12(3817) +/+ ./+ chr1:12415221 chr1:18627029 CDS/splice-site intergenic deletion 3 0 0 41 4 medium out-of-frame . N-terminal_region_of_Chorein_or_VPS13(100%),Repeating_coiled_region_of_VPS13(100%),SHR-binding_domain_of_vacuolar-sorting_associated_protein_13(100%),UBA/TS-N_domain(100%),Vacuolar-sorting-associated_13_protein_C-terminal(100%),Vacuolar_sorting-associated_protein_13__N-terminal(100%)| . . ENSG00000048707.15 . ENST00000620676.6 . downstream upstream . ^(CTGAGCGCCGCGGGCCTGCGCCATTGAGGAGCGGCGGGGAGGAAACGCCGCGCAGCGCCGGGCTGGGGCGGGCGGCCCGGGACACCGACAG___ATTTTTCTGTGACCATGAAAGAGAGAAATAAAGAATGATCCATGATTTCTAAACACCTTTTCCTGAGGATATAGTCATGTTGGAAGGCCTTGTAGCCTGGGTTCTCAATACCTATTTGGGAAAATATGTCAATAACCTGAACACTGACCAGCTCTCAGTTGCACTTCTCAAAG___GTGCTGTTGAATTAGAAAACTTGCCATTAAAGAAAGATGCCTTGAAAGAATTGGAATTACCATTTGAAGTCAAAGCTG___GCTTCATTGGGAAAGTAACCCTTCAGATTCCCTTTTATCGCCCCCATGTGGACCCTTGGGTGATCTCCATCTCCAGCCTTCACTTAATTGGAGCCCCAGAGAAAATACAGGATTTCAATGATGAAAAGGAGAAGCTGTTGGAAAGGGAACGTAAGAAAGCACTACTTCAAGCCCTGGAGGAGAAATGGAAG___AATGACCGCCAGCAGAAAGGGGAGTCCTATTGGTATTCAGTTACCGCCTCCGTAGTTACAAGGATTGTGGAGAATATTGAA___TTAAAAATTCAAGATGTCCATTTACGCTTTGAAGATGGTGTCACCAATCCCTCCCATCCTTTTGCTTTTGGCATCTGCATTAAGAATGTGTCCATGCAAAATGCTGTGAATGAGCCT___GTACAGAAACTAATGCGGAAAAAGCAATTAGACGTAGCAGAATTTAGCATCTATTGGGATGTCGATTGCACTTTACTGGGGGATTTGCCTCAGATGGAGTTACAG___GAGGCCATGGCCAGGAGCATGGAGAGTCGCAGCCATCACTACGTCCTGGAGCCTGTGTTTGCATCTGCTCTTTTGAAGAGAAACTGCTCCAAGAAGCCCCTGCGGTCTCGGCACAGTCCCCGTATTGATTGTGATATTCAGCTGGAGACCATTCCCTTGAAACTCTCTCAG___CTGCAATACCGGCAAATCATGGAATTCCTCAAGGAGCTGGAACGAAAGGAGAGGCAGGTGAAGTTCCGAAGGTGGAAACCCAAGGTGGCGATATCTAAGAA___CTGCCGAGAATGGTGGTATTTTGCTTTGAATGCTAACTTGTATGAGATCAGAGAGCAGAGGAAACGTTGCACCTGGGACTTTATGTTGCACCGCGCTCGTGATGCTGTATCTTACACTGACAAATATTTCAACAAGTTAAAAGGAGGCCTGCTGTCCACAGATGACAAG___GAGGAAATGTGTCGGATTGAAGAGGAACAGAGCTTTGAGGAATTGAAGATTTTGCGTGAACTGGTTCATGATCGATTTCACAAACAGGAAGAACTAGCAGAG___AGTCTGCGGGAGCCTCAGTTTGATTCTCCAGGAGCCTGTCCGGGAGCCCCAGAACCCGGTGGAGGCAGTGGGATGCTGCAGTATCTCCAGTCCTGGTTTCCTGGATGGGGTGGCTGGTACGGGCAGCAGACCCCAGAAGGGAATGTGGTTGAGGGACTGTCAGCAGAGCAACAGGAGCAGTGGATTCCTGAAGAGATCCTGG___GCACTGAGGAGTTTTTTGACCCCACTGCAGATGCCTCGTGTATGAACACGTATACAAAGCGAGATCATGTCTTTGCCAAACTGAATTTGCAGTTGCAGCGAGGTACAGTGACTCTGTTACACAAGGAGCAAGGAACTCCTCAAATGAATGAAAGTGCTTTCATGCAGCTCGAGTTTTCAG___ATGTAAAACTTCTAGCAGAGTCTCTTCCTCGAAGAAATTCCTCGTTGCTTTCAGTCCGGTTGGGTGGACTGTTTCTTCGAGACCTGGCTACAGAAGGAACTATGTTTCCTCTTCTAGTCTTCCCTAATCCA___CAAAAAGAAGTTGGCAGAGTCTCACAATCTTTTGGTCTACAAACTACATCTGCAGACAGAAGTGATCATTACCCAG___CTGCAGATCCAGATGGCCCCGTTTTTGAGATGCTGTATGAGAGAAATCCGGCGCACAGCCACTTTGAGAGGCGGCTCAATGTCAGCACAAGGCCCTTGAACATCATATACAATCCGCAGGCCATTAAAAAAGTAGCAGACTTTTTCTACAAGGGAAAGGTTCATACCTCAG___GTTTTGGTTATCAGTCTGAACTTGAGCTGAGAGTGGCTGAAGCTGCCCGAAGACAATATAACAAGCTGAAGATGCAGACCAAGGCAGAAATCCGGCAAACTCTTGATCGTTTGCTAGTGGGTGATTTCATT___GAGGAGAGTAAACGATGGACCGTGCGGCTGGATATTTCTGCCCCTCAGGTGATATTTCCTGATGATTTCAAATTCAAGAATCCTGTGTTAGTTGTCGTGGATCTAGGAAGAATGCTTTTGACGAACACCCAAG___ATAACTCCAGGAGGAAAAGTAGGGATGGGTCAGCATCTGAAGAGACCCAGTTTAGTGATGATGAATATAAGACCCCCCTGGCCACACCTCCTAACACCCCACCTCCCGAGTCAAGCAGCAGCAACGGAGAGAAAACACCTCCCTTTTCTGGAGTTGAGTTCAGTGAAGAACAGCTTCAAGCACATTTAATGAGCACAAAGATGTATGAGAGGTACTCGCTGTCATTTATGGACCTCCAGATCATGGTTGGACGAGTGAAAGACAATTGGAAGCATGTCCAGGATATTGACGTGGGACCAACACATGTGGTAGAGAAGTTCAACGTTCACCTACAGTTAGAGCGTCGATTGATTTATACTTCAGATCCCAAATATCCAGGAGCCGTGCTCTCAGGCAACTTACCAGACTTAAAAATCCACATTAATGAAGATAAAATATCTGCACTAAAGAATTGCTTTGCTCTCCTCACCACCCCAGAAATGAAAACTTCTGACACTCAGATTAAAGAAAAGATTTTTCCCCAGGAGGAGCAGCGGGGAAGTTTGCAAGACTCCGTAATGAATTTAACCCAGAGCATTGTGTTGTTGGAGCAGCATACCCGCGAGGTTCTGGTGGAGTCGCAGCTCCTCCTGGCGGAATTTAAAGTGAACTGTATGCAGCTTGGTGTTGAGAGCAATGGCCGGTACATTTCTGTGCTCAAGGTGTTTGGTACCAATGCTCACTTTGTGAAGAGGCCTTATGATGCTGAAGTCTCCCTAACTGTTCATGGTTTGCTCCTGGTGGATACCATGCAGACATATGGTGCTGATTTTGACCTTTTGATGGCTTCACATAAGAACTTGAGCTTTGATATTCCAACGGGAAGCCTTCGGGATAGCAGGGCCCAGTCTCCTGTCTCTGGACCGAATGTGGCCCACTTAACTGATGGAGCTACACTGAACGACCGATCAGCTACTAGTGTTTCACTTGACAAAATTCTTACCAAAGAGCAAGAGTCCCTTATTAAGTTGGAATATCAGTTTGTGAGTTCAGAGTGCCCATCGATGAATTTAGACAGTACTCTTCAGGTGATTTCCCTACAGGTGAATAATTTAGATATTATCCTCAATCCAGAGACGATTGTGGAGCTAATTGGTTTTCTTCAAAAATCCTTTCCCAAGGAAAAAGATGATTTAAGTCCTCAACCTTTAATGACTGATTTTGAAAGAAGCTTCAGAGAACAAGGAACTTACCAGTCTACATATGAACAAAACACTGAGGTTGCAGTGGAAATCCATAGGCTGAACTTACTGCTTCTTCGGACAGTGGGCATGGCAAATAGAGAGAAATATGGCAGAAAAATTGCAACTGCAAGTATAGGTGGCACCAAAGTTAATGTCTCAATGGGTAGCACGTTTGACATGAATGGTTCTCTTGGCTGTTTACAGCTTATGGATTTGACACAAGATAACGTTAAAAACCAGTATGTTGTCAGCATTGGGAATTCTGTAGGCTATGAAAATATCATCAGTGATATTGGCTACTTTGAATCTGTGTTTGTCAGAATGGAAGATGCAGCCCTCACTGAAGCTTTGAGTTTCACGTTTGTTGAGAGATCTAAACAGGAGTGTTTTCTCAACCTGAAGATGGCTTCTTTACATTATAACCACTCTGCTAAGTTTTTGAAGGAGTTGACGTTATCCATGGATGAACTGGAAGAAAATTTTCGAGGTATGCTGAAAAGCGCAGCCACCAAAGTCACCACAGTACTAGCTACCAAGACTGCCGAGTATAGCGAGATGGTATCGCTCTTTGAAACTCCAAGGAAGACTCGGGAACCCTTTATCTTAGAGGAAAATGAAATATATGGGTTTGACCTAGCTTCGTCTCATTTGGACACTGTAAAGCTAATCTTGAACATAAACATTGAATCACCAGTTGTTTCTATCCCTCGGAAGCCGGGGAGTCCTGAGTTGTTGGTGGGACACTTGGGACAGATATTCATCCAGAATTTTGTGGCGGGAGATGATGAATCCAGAAGTGACCGTCTGCAGGTGGAAATCAAGGACATTAAACTGTATTCTTTGAATTGCACCCAGTTGGCAGGTAGAGAAGCTGTTGGGTCTGAAGGAAGCCGGATGTTTTGCCCACCTTCCGGGTCTGGCAGTGCCAACAGTCAGGAGGAAGCTCATTTCACACGACATGATTTCTTTGAATCTTTGCATAGAGGTCAAG___CTTTTCACATCCTGAACAACACCACCATTCAGTTTAAACTGGAGAAGATCCCTATAGAGAGAGAATCTGAATTGACTTTTTCTCTTAGCCCAGATGACCTGGGAACTTCTAGCATCATGAAGATTGAAGGAAAATTTGTCAATCCAGTTCAG___GTGGTGTTAGCAAAGCATGTATATGAGCAGGTTTTACAAACCCTGGACAATCTCGTGTACAGTGAAGATCTGAATAAGTATCCAGCCAGTGCTACCTCCTCCCCTTGCCCTGATTCTCCTCTGCCTCCCCTCAGTACCTGTGGAGAATCTTCTGTTGAAAGGAAGGAGAATGGATTGTTCAGCCACTCCAGCCTTTCTAACACCTCTCAGAAGTCATTGTCAGTGAAGGAAGTCAAATCCTTTACTCAGATTCAAGCCACCTTTTGTATATCAGAGCTTCAGGTTCAGCTAAGTGGAGATCTGACTTTGGGGGCCCAAGGTCTTGTGAGCTTAAAGTTTCAGGACTTTGAGGTGGAATTCAGTAAAGACCATCCCCAGACTTTATCTATTCAGATTGCCCTGCATTCTCTGCTGATGGAGGACTTATTGGAGAAGAATCCAGATTCTAAATATAAGAACCTGATGGTGTCTCGAGGAGCCCCTAAGCCATCTAGTTTAGCACAAAAAGAATACCTTTCTCAGTCTTGCCCCTCAGTGTCCAATGTGGAATATCCTGATATGCCTCGGTCTCTCCCTTCCCACATGGAAGAAGCTCCTAATGTCTTCCAGTTGTATCAAAGGCCCACCTCTGCGTCCCGGAAAAAGCAAAAGGAAGTCCAAGACAAGGACTATCCCTTGACCCCACCTCCTTCTCCAACAGTGGATGAGCCCAAGATACTTGTTGGAAAGAGTAAATTTGATGATTCCTTAGTCCACATCAACATATTCTTGGTAGATAAGAAACATCCAGAATTCTCTTCCAGTTACAATCGAGTTAACCGGAGCATTGATGTTGATTTTAATTGCTTGGATGTGCTGATCACACTGCAAACCTGGGTTGTGATATTAGACTTTTTTGGAATCGGCTCCACTGCAGACAACCACGCAATGAGGCTGCCTCCTGAGGGCATTCTGCACAACGTGAAGTTGGAGCCACATGCCTCCATGGAGTCTGGACTTCAGGATCCAGTGAACACCAAACTGGATCTCAAG___GTTCATTCACTTTCTCTAGTGCTGAATAAGACCACCAGTGAGCTTGCCAAAGCAAATGTGTCCAAATTAGTAGCACACCTGGAAATGATTG___AGGGAGACCTGGCCTTACAGGGCAGCATTGGGAGTCTGTCTCTAAGTGACCTCACATGCCATGGAGAGTTCTACAGAGAACGGTTCACTACCAGTGGTGAAGAAGCACTCATCTTCCAGACTTTTAA___ATACGGACGGCCTGACCCTCTGCTCCGGAGAGAACACGACATTCGCGTGAGCCTCCGGATGGCCTCTGTGCAGTATGTGCATACTCAGCGTTTCCAGGCAGAGGTGGTGGCCTTCATTCAGCATTTCACTCAGCTGCAGGATGTCTTAGGGCGCCAGCGAGCTGCTATTGAGGGGCAGACG___GTGAGAGATCAAGCCCAGCGCTGTTCACGGGTTCTCCTGGATATTGAGGCTGGTGCTCCCGTTCTCTTGATCCCAGAAAGTTCCAGATCAAATAATCTGATTGTAGCAAATTTGGGGAAGTTGAAAGTCAAAAATAAGTTTCTGTTTGCTGGTTTTCCTGGCACCTTTTCCCTACAAGATAAG___GAATCTGTGCCTTCAGCTTCCCCAACGGGTATTCCCAAACACAGTCTGAGGAAAACGACAAGCACGGAGGAGCCCAGGGGAACCCATTCCCAGGGGCAGTTCACGATGCCTCTTGCTGGAATGAGCCTAGGAAGCCTGAAGAGTGAGTTTGTGCCCAGTACCTCCACCAAGCAGCAAGGGCCGCAACCCACACTGTCTGTTGGCCAAGAGTCCAGTAGTCCAG___AAGACCATGTCTGCCTGCTGGATTGCGTTGTCGTGGATCTCCAGGACATGGACATCTTTGCTGCAGAGAGACATCCGAGAGAATACTCGAAGGCACCAGAGGATAGTAGTGGAGATCTGATCTTCCCTTCCTATTTTGTGCGACAGACAGGAGGAAGCCTCTTAACCGAGCCTTGTAGGCTGAAATTGCAGGTGGAAAGGAATTTGGACAA___AGAAATAAGTCATACTGTGCCAGACATATCTATCCATGGCAATCTCTCCTCAGTCCACTGCTCTCTGGATCTGTATAAATACAAGCTGATCCGCGGCTTATTAGAGAACAACCTGGGAGAACCCATAGAGGAATTTATGCGGCCTTATGATTTACAAGATCCAAGAATTCAT___ACTGTCCTGAGTGGAGAAGTGTACACCTGTATGTGCTTCCTCATTGATATGGTGAATGTAAGTCTGGAGCTTAAAGATCCAAAAAGAAAAGAAGGTGCTGGGTCCCTAGCCAG___ATTTGACTTCAAGAAATGCAAACTGCTCTATGAAAGTTTTTCCAACCAAACCAAGTCCATTAACTTGGTTTCCCATTCCATGATGGCTTTTGACACCCGTTATGCTGGGCAGAAGACCAGCCCTGGCATGACGAATGTGTTCAGCTGTATCTTTCAGCCCGCTAAGAACAGCAGCACCACCCAAGGGTCCATTCAGATTGAACTACATTTCAG___ATCTACCAAGGATTCCTCCTGCTTTACAGTAGTTCTCAACAATCTCCGTGTGTTTCTCATATTTGACTGGCTACTGTTAGTCCATGATTTTCTCCACACTCCCAGTGATATTAAGAAACAAAATCATGTTACTCCTTCTCGCCACCGTAACTCTAGCAGCGAATCTGCTATAGTTCCCAAAACTGTGAAGAGTGGAGTAGTTACCAAGCGGTCTTCCCTTCCTGTGTCCAATGAAAGGCACCTGGAGGTCAAGGTCAATGTAACAG___GTACGGAGTTTGTGGTCATTGAAGATGTGTCCTGCTTCGACACCAATGCCATTATTCTGAAAGGCACCACAGTGCTCACCTATAAGCCCCGGTTTGTTGATCGCCCCTTTTCAGGAAGTTTGTTTGGCATTGAG___GTGTTTTCATGCCGACTAGGGAATGAGCATGATACAGCTCTTTCAATTGTGGATCCCGTACAAATTCAAATGGAGTTGGTGGGGAATTCTTCTTATCAAAATAGTTCAGGATTGATGGATGCATTCAATAGTGAAGATTTCCCACCTGTCCTGGAG___ATTCAGTTACAAGCCCTGGATATCAGACTCTCCTATAATGATGTTCAGCTGTTTCTTGCCATTGCAAAATCCATCCCAGAGCAAGCTAATGCTGCAGTGCCAGACTCAGTGGCCCTGGAGTCAGACTCCGTTGGCACTTACCTTCCAGGTGCATCTCGCGTTGGAGAGGAAATCAGAGAAGGGACAAGACACACCTTAGATCCTGTCTTGG___AGTTACAGCTGGCTAGGCTGCAGGAGCTGGGATTCAGCATGGATGATTGTCGCAAAGCTCTTTTGGCGTGTCAAG___GCCAATTGAAAAAGGCAGCAAGTTGGTTGTTTAAGAATGCGGAACCTCTGAAGTCTCTTTCCTTGGCCTCCACCAGCCGAGATAGCCCAGGGGCTGTGGCAGCGCCATTGATCTCTGGCGTGGAGATCAAAGCTGAGAGTGTGTGCATCTGTTTCATCGATGACTGCATGGATTGTGATGTTCCTCTCGCTGAACTCACCTTTTCCC___GTCTGAATTTTCTTCAGCGTGTAAGAACTAGCCCTGAAGGCTATGCCCACTTCACCCTTTCTGGAGATTATTATAACCGTGCTCTTTCAG___GCTGGGAGCCATTTATTGAGCCTTGGCCATGCTCTGTATCCTGGCAACAGCAGGCAGCTAGTCGTCTCCATCCTCCTCGACTGAAGCTAGAAGCCAAGGCCAAACCTCGTTTGGATATCAATATCACTTCTGTGCTAATTG___ACCAGTATGTAAGTACCAAGGAATCGTGGATGGCAGATTACTGTAAAGATGACAAGGACATAGAGTCAGCTAAATCAGAAGACTGGATGGGCTCTTCGGTGGATCCTCCATGTTTTGGACAAA___GCCTCCCCCTTGTCTACCTTAGAACTAGGAGTACAGCCAGTCTGACTAACCTAGAGCACCAGATCTATGCTAGAG___CAGAGGTGAAAACCCCCAAGCGCCGGCAGCCATTTGTCCCCTTTGCTCTGAGGAACCACACGGGGTGCACTTTGTGGTTTGCCACCCTGACCACCACACCCACCAG___AGCTGCACTCTCTCACAGTGGGAGTCCAGGGGTAGTTCCAGAAGGGAACGGAACATTTCTCGATGATACTCACAATGTTAGTGAATGGCGAGAAGTCCTTACAGGTGAAGAGATTCCCTTTGAATTTGAAGCAAGAGGAAAGTTAAGACACAG___ACACACCCATGACCTCCGGATTCATCAACTGCAAGTGAGAGTAAATGGCTGGGAGCAAGTGAGCCCAGTGTCTGTGGACAAAGTCGGGACCTTTTTTCGATATGCAGCACCAGATAAAAATTCATCTTCCTCTACG___ATTGGCAGCCCAAGCAGCAGAACAAATATTATACATCCCCAGGTTTAT___TTCTCTTCACTCCCACCAGTGCGGGTGGTCTTTGCAGTGACTATGGAAGGCAGTGCACGGAAAGTCATCACTGTCCGGTCAGCCCTCATTGTGAGGAACAGACTTGAGACACCAATGGAACTAAGACTGGATAGCCCATCAGCTCCAGACA___AGCCAGTGGTGCTTCCTGCTATCATGCCAGGGGATTCGTTTGCTGTGCCTTTACACCTCACTTCTTGGCGGCTACAGGCCCGGCCCAAAGGATTGGGTGTATTTTTCTGTAAGGCTCCCATTCATTGGACCAATGTAGTGAAGACTGCAGAAATTAGTAGCAGTAAACGAGAGTGCCACTCTATGGACACAGAAAAAAGCCGATTTTTCAG___GTTTTGTGTGGCTATAAAGAAAGAGAATTATCCAGATTATATGCCCTCAAACATATTTTCTGACAGTGCAAAACAGATTTTCAGACAGCCTGGGCATACCATATATCTCCTGCCAACTGTGGTAATCTGCAACTTGCTACCCTGTGAACTTGATTTTTATGTTAAAGGAATGCCAATTAATGGGACGCTGAAACCTGGCAAGGAGGCAGCTCTCCATACAGCTGATACATCCCAGAACATTGAGCTGG___GGGTATCACTGGAGAATTTCCCCCTCTGTAAAGAATTGCTCATTCCACCTGGAACCCAAAACTATATGGTGAGAATGCGACTCTATGACGTCAACCGTCGGCAGCTGAACCTCACCATCCGGATTGTGTGTCGAGCAGAAGGATCCTTAAAGATCTTCATTTCTGCTCCATATTGGCTGATTAACAAAACAG___GGTTGCCACTGATCTTCAGACAGGACAATGCCAAGACAGATGCTGCAGGCCAGTTTGAGGAGCATGAGCTGGCCCGTAGCCTGAGTCCTCTCTTATTCTGCTATGCTGACAAAGAGCAGCCAAACCT___CTGCACGATGAGAATCGGAAGGGGGATTCATCCAGAAGGCATGCCGGGCTGGTGTCAGGGCTTCTCCCTGGATGGTGGTAGTGGTGTCCGAGCTTTGAAAGTCATCCAGCAAGGAAACCGCCCAGGGCTGATCTATAACATTG___GTATTGATGTCAAGAAAGGCCGAGGTCGATACATTGATACCTGCATGGTCATCTTTGCCCCCCGTTACCTGTTAGATAATAAATCATCTCACAAGCTTGCATTTGCACAGAGGGAATTTGCCAGGGGACAG___GGAACAGCCAATCCCGAAGGTTACATTTCCACCCTTCCTGGTTCCAGTGTGGTGTTCCACTGGCCTCGGAATGACTATGATCAGCTATTGTGTGTCAGACTGATGGACGTTCCCAATTGTATTTGGTCTGGAGGCTTTGAAGTCAACAAGAATAATTCCTTCCATATCAACATGAG___GGATACCTTGGGAAAATGCTTCTTCCTACGAGTGGAAATTACTCTCCGAGGAGCTACGTATAGGATCTCATTTAGTGACACAGATCAGTTACCTCCTCCTTTCCGAATTGACAACTTTTCTAAG___GTCCCGGTTGTCTTTACTCAGCATGGCGTAGCTGAACCCAGGCTCCGGACTGAAGTGAAGCCCATGACTTCATTGGATTATGCCTGGGACGAACCCACCTTGCCACCTTTTATCACTCTGACTGTTAAAGGGGCAGGGTCCTCTGAGATCAACTGCAACATGAATGATTTCCAGGATAATCGGCAGCTTTATTATGAAAATTTCATTTACATTGCTGCTACATATACATTCTCTGG___CTTGCAGGAGGGAACAGGCAGGCCTGTGGCTTCCAACAAGGCCATTACCTGTGCGGAGCTCGTTTTGGATGTCTCACCCAAGACACAAAGAGTCATTTTAAAAAAGAAG___GAACCAGGAAAGCGTTCTCAGCTGTGGAGGATGACAGGAACAGGAATGCTGGCCCATGAGGGCTCCTCAGTTCCTCACAATCCCAATAAGCCCTCAGCCGCCCGCTCCACCGAGGGGTCTGCCATCTTAGATATTGCTGGTCTCGCTGCAGTGACTGACAACAG___ATACGAGCCACTGATGCTGAGAAAGCCTGACCGCAGGCGAAGCACAACTCAGACGTGGAGTTTCCGAGAAGGAAAACTGACCTGTGGGTTACATGGGTTGGTCGTCCAG___GCCAAAGGAGGACTTTCTGGTTTGTTTGATGGAGCTGAAGTTGTTCTTGGTCCTGACACTTCCATGGAGCTTTTGGGGCCAGTTCCACCTGAACAACAATTTATTAATCAAAAAATGAGACCTGGTTCTGGAATGTTATCCATCAGAGTCATCCCAGATGGACCAACTAGAGCACTCCAG___ATAACAGATTTCTGCCACCGGAAAAGCAGCCGTTCATATGAAGTGGATGAACTTCCTGTCACCGAACAAGAGCTGCAGAAATTAAAGAATCCAGATACAGAGCAGGAATTGGAA___GTGCTTGTGAGGTTAGAAGGTGGAATTGGGTTGTCCTTAATTAATAAAGTCCCAGAAGAACTGGTCTTTGCAAGTCTTACAGGAATCAATGTGCACTATACACAGCTGGCAACCAGTCACATGCTTGAACTCAGCATACAGGATGTACAG___GTGGACAATCAGCTCATTGGTACCACGCAGCCCTTCATGCTCTATGTGACTCCCCTGAGCAATGAGAATGAGGTCATCGAGACCGGCCCAGCTGTGCAAGTCAACGCAGTGAAGTTCCCCAGTAAGAGTGCACTGACCAACATCTACAAG___CATCTGATGATCACAGCTCAGAGATTCACAGTGCAAATTGAGGAGAAACTGCTCCTCAAGCTGCTAAGTTTCTTTGGCTACGATCAAGCAGAATCAG___AGGTGGAAAAATATGATGAAAACCTCCATGAAAAGACAGCTGAGCAAGGTGGAACACCAATTCGATACTACTTTGAAAATCTCAAAATCAGCATTCCTCAGATCAAGCTAAGTGT)GTTCACCTCCAACAAGCTCCCATTGGATCTTAAG___GCCCTAAAAAGCACCTTGGGGTTTCCTTTGATACGGTTTGAAGACGCTGTGATTAATCTAGATCCATTCACTCGGGTACATCCCTATGAGACCAAGGAGTTCATCATCAATGATATCCTCAAACATTTCCAGGAG|GTTTGGGCAGATTATTTCAAGCTCACCCCTAGAAGAGTGCCACTTCTTAAAAGAAAAGCATAATAATAAAAGGTCGGT MLEGLVAWVLNTYLGKYVNNLNTDQLSVALLKGAVELENLPLKKDALKELELPFEVKAGFIGKVTLQIPFYRPHVDPWVISISSLHLIGAPEKIQDFNDEKEKLLERERKKALLQALEEKWKNDRQQKGESYWYSVTASVVTRIVENIELKIQDVHLRFEDGVTNPSHPFAFGICIKNVSMQNAVNEPVQKLMRKKQLDVAEFSIYWDVDCTLLGDLPQMELQEAMARSMESRSHHYVLEPVFASALLKRNCSKKPLRSRHSPRIDCDIQLETIPLKLSQLQYRQIMEFLKELERKERQVKFRRWKPKVAISKNCREWWYFALNANLYEIREQRKRCTWDFMLHRARDAVSYTDKYFNKLKGGLLSTDDKEEMCRIEEEQSFEELKILRELVHDRFHKQEELAESLREPQFDSPGACPGAPEPGGGSGMLQYLQSWFPGWGGWYGQQTPEGNVVEGLSAEQQEQWIPEEILGTEEFFDPTADASCMNTYTKRDHVFAKLNLQLQRGTVTLLHKEQGTPQMNESAFMQLEFSDVKLLAESLPRRNSSLLSVRLGGLFLRDLATEGTMFPLLVFPNPQKEVGRVSQSFGLQTTSADRSDHYPAADPDGPVFEMLYERNPAHSHFERRLNVSTRPLNIIYNPQAIKKVADFFYKGKVHTSGFGYQSELELRVAEAARRQYNKLKMQTKAEIRQTLDRLLVGDFIEESKRWTVRLDISAPQVIFPDDFKFKNPVLVVVDLGRMLLTNTQDNSRRKSRDGSASEETQFSDDEYKTPLATPPNTPPPESSSSNGEKTPPFSGVEFSEEQLQAHLMSTKMYERYSLSFMDLQIMVGRVKDNWKHVQDIDVGPTHVVEKFNVHLQLERRLIYTSDPKYPGAVLSGNLPDLKIHINEDKISALKNCFALLTTPEMKTSDTQIKEKIFPQEEQRGSLQDSVMNLTQSIVLLEQHTREVLVESQLLLAEFKVNCMQLGVESNGRYISVLKVFGTNAHFVKRPYDAEVSLTVHGLLLVDTMQTYGADFDLLMASHKNLSFDIPTGSLRDSRAQSPVSGPNVAHLTDGATLNDRSATSVSLDKILTKEQESLIKLEYQFVSSECPSMNLDSTLQVISLQVNNLDIILNPETIVELIGFLQKSFPKEKDDLSPQPLMTDFERSFREQGTYQSTYEQNTEVAVEIHRLNLLLLRTVGMANREKYGRKIATASIGGTKVNVSMGSTFDMNGSLGCLQLMDLTQDNVKNQYVVSIGNSVGYENIISDIGYFESVFVRMEDAALTEALSFTFVERSKQECFLNLKMASLHYNHSAKFLKELTLSMDELEENFRGMLKSAATKVTTVLATKTAEYSEMVSLFETPRKTREPFILEENEIYGFDLASSHLDTVKLILNINIESPVVSIPRKPGSPELLVGHLGQIFIQNFVAGDDESRSDRLQVEIKDIKLYSLNCTQLAGREAVGSEGSRMFCPPSGSGSANSQEEAHFTRHDFFESLHRGQAFHILNNTTIQFKLEKIPIERESELTFSLSPDDLGTSSIMKIEGKFVNPVQVVLAKHVYEQVLQTLDNLVYSEDLNKYPASATSSPCPDSPLPPLSTCGESSVERKENGLFSHSSLSNTSQKSLSVKEVKSFTQIQATFCISELQVQLSGDLTLGAQGLVSLKFQDFEVEFSKDHPQTLSIQIALHSLLMEDLLEKNPDSKYKNLMVSRGAPKPSSLAQKEYLSQSCPSVSNVEYPDMPRSLPSHMEEAPNVFQLYQRPTSASRKKQKEVQDKDYPLTPPPSPTVDEPKILVGKSKFDDSLVHINIFLVDKKHPEFSSSYNRVNRSIDVDFNCLDVLITLQTWVVILDFFGIGSTADNHAMRLPPEGILHNVKLEPHASMESGLQDPVNTKLDLKVHSLSLVLNKTTSELAKANVSKLVAHLEMIEGDLALQGSIGSLSLSDLTCHGEFYRERFTTSGEEALIFQTFKYGRPDPLLRREHDIRVSLRMASVQYVHTQRFQAEVVAFIQHFTQLQDVLGRQRAAIEGQTVRDQAQRCSRVLLDIEAGAPVLLIPESSRSNNLIVANLGKLKVKNKFLFAGFPGTFSLQDKESVPSASPTGIPKHSLRKTTSTEEPRGTHSQGQFTMPLAGMSLGSLKSEFVPSTSTKQQGPQPTLSVGQESSSPEDHVCLLDCVVVDLQDMDIFAAERHPREYSKAPEDSSGDLIFPSYFVRQTGGSLLTEPCRLKLQVERNLDKEISHTVPDISIHGNLSSVHCSLDLYKYKLIRGLLENNLGEPIEEFMRPYDLQDPRIHTVLSGEVYTCMCFLIDMVNVSLELKDPKRKEGAGSLARFDFKKCKLLYESFSNQTKSINLVSHSMMAFDTRYAGQKTSPGMTNVFSCIFQPAKNSSTTQGSIQIELHFRSTKDSSCFTVVLNNLRVFLIFDWLLLVHDFLHTPSDIKKQNHVTPSRHRNSSSESAIVPKTVKSGVVTKRSSLPVSNERHLEVKVNVTGTEFVVIEDVSCFDTNAIILKGTTVLTYKPRFVDRPFSGSLFGIEVFSCRLGNEHDTALSIVDPVQIQMELVGNSSYQNSSGLMDAFNSEDFPPVLEIQLQALDIRLSYNDVQLFLAIAKSIPEQANAAVPDSVALESDSVGTYLPGASRVGEEIREGTRHTLDPVLELQLARLQELGFSMDDCRKALLACQGQLKKAASWLFKNAEPLKSLSLASTSRDSPGAVAAPLISGVEIKAESVCICFIDDCMDCDVPLAELTFSRLNFLQRVRTSPEGYAHFTLSGDYYNRALSGWEPFIEPWPCSVSWQQQAASRLHPPRLKLEAKAKPRLDINITSVLIDQYVSTKESWMADYCKDDKDIESAKSEDWMGSSVDPPCFGQSLPLVYLRTRSTASLTNLEHQIYARAEVKTPKRRQPFVPFALRNHTGCTLWFATLTTTPTRAALSHSGSPGVVPEGNGTFLDDTHNVSEWREVLTGEEIPFEFEARGKLRHRHTHDLRIHQLQVRVNGWEQVSPVSVDKVGTFFRYAAPDKNSSSSTIGSPSSRTNIIHPQVYFSSLPPVRVVFAVTMEGSARKVITVRSALIVRNRLETPMELRLDSPSAPDKPVVLPAIMPGDSFAVPLHLTSWRLQARPKGLGVFFCKAPIHWTNVVKTAEISSSKRECHSMDTEKSRFFRFCVAIKKENYPDYMPSNIFSDSAKQIFRQPGHTIYLLPTVVICNLLPCELDFYVKGMPINGTLKPGKEAALHTADTSQNIELGVSLENFPLCKELLIPPGTQNYMVRMRLYDVNRRQLNLTIRIVCRAEGSLKIFISAPYWLINKTGLPLIFRQDNAKTDAAGQFEEHELARSLSPLLFCYADKEQPNLCTMRIGRGIHPEGMPGWCQGFSLDGGSGVRALKVIQQGNRPGLIYNIGIDVKKGRGRYIDTCMVIFAPRYLLDNKSSHKLAFAQREFARGQGTANPEGYISTLPGSSVVFHWPRNDYDQLLCVRLMDVPNCIWSGGFEVNKNNSFHINMRDTLGKCFFLRVEITLRGATYRISFSDTDQLPPPFRIDNFSKVPVVFTQHGVAEPRLRTEVKPMTSLDYAWDEPTLPPFITLTVKGAGSSEINCNMNDFQDNRQLYYENFIYIAATYTFSGLQEGTGRPVASNKAITCAELVLDVSPKTQRVILKKKEPGKRSQLWRMTGTGMLAHEGSSVPHNPNKPSAARSTEGSAILDIAGLAAVTDNRYEPLMLRKPDRRRSTTQTWSFREGKLTCGLHGLVVQAKGGLSGLFDGAEVVLGPDTSMELLGPVPPEQQFINQKMRPGSGMLSIRVIPDGPTRALQITDFCHRKSSRSYEVDELPVTEQELQKLKNPDTEQELEVLVRLEGGIGLSLINKVPEELVFASLTGINVHYTQLATSHMLELSIQDVQVDNQLIGTTQPFMLYVTPLSNENEVIETGPAVQVNAVKFPSKSALTNIYKHLMITAQRFTVQIEEKLLLKLLSFFGYDQAESEVEKYDENLHEKTAEQGGTPIRYYFENLKISIPQIKLSVFTSNKLPLDLKALKSTLGFPLIRFEDAVINLDPFTRVHPYETKEFIINDILKHFQE|vwadyfkltprrvpllkrka* 01BR009 ENSG00000234899.10 ENSG00000234899.10 -/- -/- chr17:72057459 chr17:72141781 exon/splice-site intron duplication 2 1 0 153 3 medium . . . . . ENSG00000234899.10 ENSG00000234899.10 ENST00000540802.1 ENST00000628742.2 upstream downstream duplicates(1) ^(ATTCAATGTCTG)GAGCAAGCTaTCTGCACTCCACTGCCGGTGCTTTCTGGCTTCAAAAGCAGCTTCGAGACTGtGGAATAGTAGACAGGATTAGAATAAGGCCCGGGAGTTCTACAACTCTGCTGAATTCAAAAGGACCATGATCTTGGTCAGCTAAACCACACCCGATGGCCAAGGGGCAGAGGAAAAGATGGCAGAGTAGAGACTCTTGGACTTACTCATTTGGATTTTGGAGTTTTACCTGACTTGGTCAAGCCTCATGCCAGATCCAG|GAAGCCAAGTGGGAAGATCCTTGCTGGTTTCTCCCTCTGAGGAAGAAGGAAAATGCCATGACTCCCACTATGGCCTCTCTTGGAACCATATTTTGAG___CCAAAAACAATCCATTGATACACTTGGTGACATTAATTGAGAAAAAAACAATATGG___TCTGGCCATGGAGGCATGGTATCCGTAACATCCCC(CAAAGGAGCTAAAGAAGAAATCCACAATTTACCATGAGCATTTCTCGTCTGAAGATTGCCAAGCGATTCCTCCAGGACATTCCTCAAG___ATCAATTTCTGTTCATCCACCTTGTCCTGGGAGGGACATCAATGGGTTTCCATGTCCTTTGGCTTCTGGTTGAGTTCACTCAGTGGAGAACCCTGGCAAGAGGCAGGAAAAGGGGAGGAAG___GTGAAAACCATCCATTTCTTGGAGAAGTGCCACGGTGGGGTTGCAAGTCCCAGGATCAAGTTTTCGATGTGTCTCTTTTTCCCGTAAAGTGGCTGAAATCTGAAGCTGAATCTGCAAGTGTCATGGAGTCATTGAATCTCACAGTCTCAACTGATAAAAGTTATTAAAG___GTAAAAATGGTGCTACCCTTGGAAATCCAAGAGCAGCTTCAAGAGTCAACTATACCAGCAATCCCTAAAGCTGGAGAATTTATGCCCATGGAAAAGTCTGTAGCGTTTTGCAAACTGT)$ . 01BR009 ENSG00000134030.14 ENSG00000243531.1(3835),ENSG00000226943.3(19346) +/+ ./- chr18:48761689 chr7:6904458 CDS/splice-site intergenic translocation 2 0 0 15 4 medium out-of-frame . . . . ENSG00000134030.14 . ENST00000256413.8 . downstream downstream . ^(ACTCTCCTACATTCTCTTTCCCTGTGTCAGATCAGGGATCATTTTTTTTCCTTCCTCTACTCCCTCCCCCCTACCCGCCCCTCCCTCCCTGTTTCCCTTCCCTCCCTCCCTCCCCTCTCTGCTGGGTCTGTGCGCTGGGGCGCCCGATCCCCTCCGCAGCTGGGACGCTCCGAACTCGAGGCAGGAGTCGGCTCTCCGGAGCCTCGTCCCTCCCTTCCCCTTCCCTGCCCCCTTCCCCCACCCCCGACTCGGGCTTGGCGCGGCGGCCAGAGGAACCCCGAG___TCCCGGCCCAGGCCCCTGAGCTGGAGGGATGGAAAACTCCTCTGCAGCATCAGCCTCCTCGGAGGCAGGGAGCAGCCGCTCCCAGGAGATCGAGGAGCTGGAGCGCTTCATCGACAGCTACGTGCTGGAGTACCAGGTGCAGGGGCTGCTGGCTGACAAGACGGAGGGTGATGGCGAGAGCGAGAGGACCCAGTCCCACATCTCCCAG___TGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAG___AATGGCAGCAAAGACAACTCTCTGGACATGCTGGGCACGGACATCTGGGCGGCCAACACCTTCGATTCCTTCAG___TGGTGCCACCTGGGACCTGCAGCCGGAAAAGCTGGACTTCACCCAGTTCCACCGCAAAGTCCGACACACGCCCAAGCAGCCCCTGCCACACATCGACCGCGAAGG___GTGTGGCAAAGGGAAGCTGGAAGATGGGGATGGCATCAACCTGAATGACATCGAGAAGGTCCTTCCAGCCTGGCAG___GGCTACCACCCGATGCCCCATGAAGTGGAGATCGCACACACCAAGAAGCTGTTCCGCAGGAGGAGAAATGATCGAAG___GCGGCAGCAGAGACCTCCGGGGGGCAACAAGCCCCAACAGCATGGTGACCACCAGCCAGGCAGTGCCAAACACAACAGGGACCACCAGAAATCCTACCAGGGGGGCTCAGCACCCCACCCCTCAGGGAGGCCCACTCACCATGGCTACAGCCAGAACCGGCGCTGGCACCATGGCAACATGAAGCACCCACCAGGCGACAAGGGGGAGGCAGGCGCACACCGCAATGCCAAAGAGACCATGACCATCGAGAACCCAAAACTGGAGGACACTGCAGGGGACACCGGGCACAGCAGCCTTGAGGCCCCCCGCAGCCCTGACACCCTGGCCCCGGTGGCTTCTGAGCGGCTGCCCCCACAGCAGTCAGGGGGGCCAGAGGTTGAGACAAAACGTAAAGACAGTATTCTTCCCGAGCGCATCGGGGAGCGGCCCAAAATTACCCTGCTCCAGTCTTCCAAAGACAGACTGCGGCGAAGGCTAAAGGAAAAG___GATGAAGTGGCCGTGGAGACGACCACTCCCCAGCAGAACAAGATGGACAAGCTGATCGAGATCCTGAACAGCATGCGGAACAACAGCAGCGACGTGGACACCA)AGCTCACCACCTTCATGGAGGAGGCCCAGAACTCCACCAACTCCGAGGAGATGCTGGGCGAGATCGTGCGCACAATCTACCAGAAGGCTGTGTCCGACCGCAGCTTCGCCTTCACCGCTGCCAAGCTCTGCGACAAGATGGCGCTCTTTATGGTGGAGGGGACCAAGTTCCGGAGCCTGCTCCTCAACATGCTGCAG|AAAATGAAAGGAATTGAAATTAAGAGAAGGGAGAGATTGAAGACTGGAAAGGAGAAAGTGGTTGATGGACAGAG MENSSAASASSEAGSSRSQEIEELERFIDSYVLEYQVQGLLADKTEGDGESERTQSHISQWTADCSEPLDSSCSFSRGRAPPQQNGSKDNSLDMLGTDIWAANTFDSFSGATWDLQPEKLDFTQFHRKVRHTPKQPLPHIDREGCGKGKLEDGDGINLNDIEKVLPAWQGYHPMPHEVEIAHTKKLFRRRRNDRRRQQRPPGGNKPQQHGDHQPGSAKHNRDHQKSYQGGSAPHPSGRPTHHGYSQNRRWHHGNMKHPPGDKGEAGAHRNAKETMTIENPKLEDTAGDTGHSSLEAPRSPDTLAPVASERLPPQQSGGPEVETKRKDSILPERIGERPKITLLQSSKDRLRRRLKEKDEVAVETTTPQQNKMDKLIEILNSMRNNSSDVDTKLTTFMEEAQNSTNSEEMLGEIVRTIYQKAVSDRSFAFTAAKLCDKMALFMVEGTKFRSLLLNMLQ|kmkgieikrrerlktgkekvvdgq 01BR009 ENSG00000121775.18 ENSG00000126562.17 +/+ +/+ chr1:32075684 chr17:42788129 CDS intron translocation 2 0 0 26 12 medium out-of-frame . . . . ENSG00000121775.18 ENSG00000126562.17 ENST00000336294.10 ENST00000246914.10 downstream upstream . ^(GATACCCGGGACTGGGCTGCGGCGGTTAGTCCTCTCCCGGCCGCCGTCGCCTCCGACATATTGCCCGCAGGAGCTGCGGCGGCGAAGCGGAGAGCACCGGGGGGAGGAGATGG___GAGGACGAAGAGGTCCCAACAGGACATCTTACTGTCGAAATCCGCTCTGTGAGCCGGGATCCTCGGGGGGCTCTA)GTGGAAGCCACACTTCCAGTGCATCGGTGACCAGTGTTCGTTCCCGCACCAG___GAGCAGTTCTGGAACAGGCCTCTCCAGCCCTCCTCTGGCCACCCAAACTGTTGTGCCTCTACAGCACTGCAAGATCCCCGAG|GGCTTTTGCCCTATCCATTCCACGTTCTGGCCCTGGAAGTGACTTTTCCCCCGGGGACAG___CTATGCCTCAGATGCAGCTTCAGGC(CTTAGCGATGTGGGAGAAGGGATGGGACAAATGAGGAGACCCCCAGGGAGGAATCTCCGGCGCAGACCCCGATCCCGGCTGCGGGTCACTAGT___GTCTCAGACCAGAATGACAGAGTGGTTGAGTGCCAGCTACAGACCCATAACAGCAAGATGGTGACCTTCCGATTTGATCTGGATGGGGACAGCCCGGAAGAGATTGCAGCTGCCATG___GTATATAACGAGTTCATTCTGCCTTCGGAGCGAGATGGATTTCTCAGACGGATTCGGGAGATTATCCAGCGAGTGGAGACCCTGTTGAAGAGAGACACTGGCCCCATGGAGGCTGCTGAAGACACCCTAAGCCCCCAG___GAGGAGCCAGCACCATTACCTGCCCTGCCCGTCCCCCTCCCAGACCCATCCAATG___AAGAGCTCCAGAGCAGCACCTCCCTGGAGCACAGGAGCTGGACAGCCTTCTCCACCTCCTCATCTTCTCCTGGAACTCCTTTGTCTCCTGGAAACCCATTTTCCCCTGGAACCCCCATTTCCCCAGGTCCCATCTTCCCCATCACTTCTCCCCCATGTCATCCCAGCCCCTCCCCATTCTCCCCCATTTCTTCCCAGGTCTCCTCAAATCCCTCTCCACACCCCACCAGCTCTCCACTTCCATTCTCCTCCAGCACACCCGAGTTTCCGGTCCCACTCTCTCAGTGTCCCTGGAGTTCTCTCCCCACGACTTCTCCACCTACGTTCTCTCCCACTTGTTCTCAGGTCACTCTTAGTTCCCCTTTCTTTCCTCCGTGCCCCTCCACTTCTTCCTTCCCCTCCACCACAGCAGCCCCTCTCCTTTCTCTGGCTAGTGCCTTCTCACTGGCTGTGATGACTGTGGCCCAGTCCCTGCTGTCCCCCTCACCTGGGCTCCTTTCCCAGTCTCCTCCAGCCCCTCCTAGTCCCCTCCCTAGCCTGCCCCTTCCCCCTCCCGTTGCTCCTGGTGGCCAGGAAAGCCCTTCACCCCACACAGCTGAGGTGGAGAGTGAG___GCCTCACCACCTCCTGCTCGGCCCCTCCCAGGGGAAGCCAGGCTGGCGCCCATCTCTGAAG___AGGGAAAGCCGCAGCTTGTTGGGCGTTTCCAAGTGACTTCATCCAAGGAACCGGCTGAGCCTCTTCCCTTGCAGCCAACATCCCCCACTCTCTCTGGTTCTCCAAAACCTTCAACCCCTCAGCTCACTTCAGAGAGCTCAGATACAGAGGACAGTGCTGGAGGCGGGCCAGAGACCAGGGAAGCTCTGGCTGAGAGCGACCGTGCAGCTGAGGGTCTGGGGGCTGGAGTTGAGGAGGAAGGAGATGATGGGAAGGAACCCCAAGTTGGGGGCAGCCCCCAACCCCTGAGCCATCCCAGCCCAGTGTGGATGAACTACTCCTACAGCAGCCTGTGTTTGAGCAGCGAGGAGTCAGAAAGCAGTGGGGAAGATGAGGAGTTCTGGGCTGAGCTGCAGAGTCTTCGGCAGAA___GCACTTGTCAGAGGTGGAAACACTACAGACACTACAGAAAAAAGAAATTGAAGATTTGTACAGCCGGCTGGGGAAGCAGCCCCCACCGGGTATTGTGGCCCCAGCTGCTATGCTGTCCAGCCGCCAGCGCCGCCTCTCCAAGGGCAGCTTCCCCACCTCCCGCCGCAACAGCCTACAGCGCTCTGAGCCCCCAGGCCCTG___GCATCATGCGAAGGAACTCTCTGAGTGGCAGCAGCACCGGCTCCCAGGAGCAGCGGGCAAGCAAGGGGGTGACATTCGCCGGGGATGTTGGCAGGATG___TGAATTCAGAACAGAAGCCATGTATCTCCCCCACACCAGGGCCCACCATGGAGCTTGTGTTCTCAGAATCTGATGCTTTCTGATCAACAAAACTGAGCAAGGAAGATCCCAACACTGAAGGGGTAGAAGGCCAGGGGGGCATGGAGAGTGCAGCTCCATTATAGTGAAGAGCCAAACATATGTGAACTGTTTGCTGTGTGGAGGTGTTAGTTCTGCTGCCTACCATCTTCATCTCTAGCACCTCCCCTGCCAAGAGTCAACCACTAAGCAATCCCACCCAAGCCTGGATGCTTCTAGAGGGGCCCACTCCCAGCTGGGAGAGTGTAGGGGATATGCTCACACCACATTAGCAGCAACCAATAAAAATGCTGGAAACAAGAA)$ MGGRRGPNRTSYCRNPLCEPGSSGGSSGSHTSSASVTSVRSRTRSSSGTGLSSPPLATQTVVPLQHCKIPE|gfcpihstfwpwk* 01BR009 ENSG00000171862.11 ENSG00000265861.1(50637),ENSG00000263890.1(5625) +/+ ./+ chr10:87933251 chr12:97989758 CDS/splice-site intergenic translocation 2 0 0 76 22 medium out-of-frame . Dual_specificity_phosphatase__catalytic_domain(100%)| . . ENSG00000171862.11 . ENST00000371953.8 . downstream upstream . ^(GTTCTCTCCTCTCGGAAGCTGCAGCCATGATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCCTCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTCTTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCGCGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGGTCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGGCTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGGAGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTCGCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGCCAAGTCCAGAGCCATTTCCATCCTGCAGAAGAAGCCCCGCCACCAGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCTCCCAGACATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCT___ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAG___GTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCT___TTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAG___TTGCACAATATCCTTTTGAAGACCATAACCCACCACAGCTAGAACTTATCAAACCCTTTTGTGAAGATCTTGACCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGC)TGGAAAGGGACGAACTGGTGTAATG??ATGTGCATATTTATTACATCGGGGCAAATTTTTAAAGGCACAAGAGGCCCTAGATTTCTATGGGGAAGTAAGGACCAGAGACAAAAAG|GCAAAGAACAAAGAGGGTCTCTTGGAGCTGAAAACAATTCCAAAGCAAGGTAAGTATAGAGCACAACCAGAAACATTGG MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVM?CAYLLHRGKFLKAQEALDFYGEVRTRDKK|aknkegllelktipkqgkyraqpetl 01BR009 ENSG00000138767.13 ENSG00000138759.19 -/- +/- chr4:77726167 chr4:78415666 CDS/splice-site intron duplication/5'-5' 2 0 0 100 3 medium out-of-frame . Endonuclease/Exonuclease/phosphatase_family(100%),Leucine_rich_repeat(100%)| . . ENSG00000138767.13 ENSG00000138759.19 ENST00000504123.6 . upstream downstream duplicates(1) ^(GCGCGCGCGCGCGCGTGTTTGTGTGTGTGTTTCCCCTGCCGCGGGGAAATGGCTGCTGTTGCTTCTGGGCCAGAGGAAGAGAATGAGGTAGAGTGTTCTTTTGCCTCCGAGTAGGACCGAGAGTGTTGGGAAGAGGAGCGCGTCCCCGGGGAAATGAG___ACTAATAGGGATGCCAAAGGAAAAATATGATCCTCCAGATCCTCGCAGAATTTATACCATCATGTCAGCAGAGGAGGTAGCCAATGGGAAAAAATCTCACTGGGCAGAATTAGAAATCTCGG___GTAGAGTGCGGAGCCTAAGTACATCACTTTGGTCATTGACACACTTGACAGCGCTGCACCTAAATGACAATTACCTTAGTCGCATTCCACCTGATATTGCCAAGCTTCATAATCTGGTTTACCTGGATCTGTCATCCAATAAACTCAGAAGTTTACCAGCAGAACTAGGAAACATGGTGTCTCTCAG___GGAATTGCTTTTAAATAACAATCTGTTACGGGTTTTGCCTTATGAACTTGGTCGGCTCTTCCAGCTACAAACTCTAGGTTTGAAAG___GCAATCCTTTATCACAGGATATTCTCAACTTATACCAGGACCCAGATGGAACCCGAAAGCTACTGAACTTCATGCTTGACAATCTCGCAG___TTCATCCAGAGCAGCTTCCTCCGAGGCCATGGATTACATTAAAAGAACGAGACCAAATTCTGCCGTCAG___CATCATTCACGGTTATGTGTTACAATGTGTTATGTGATAAATACGCTACCCGGCAGCTATATGGCTATTGCCCATCCTGGGCATTAAACTGGGAATACAGGAAAAAGGGAATTATGGAAGAAATTGTTAACTGTGACGCAGATATCATTAGTCTTCAG___GAAGTGGAAACAGAGCAATACTTCACTCTCTTTCTGCCAGCATTGAAGGAGCGTGGATATGATGGATTTTTTTCTCCAAAGTCACGTGCCAAAATCATGTCTGAGCAGGAGAGAAAGCATGTAGATGGTTGTGCAATATTCTTCAAAACAGAAAA___ATTTACATTGGTGCAGAAGCATACAGTGGAATTTAACCAAGTGGCGATGGCTAATTCAGATGGATCCGAAGCTATGCTGAACAGAGTGATGACAAAAGATAACATTGGTGTCGCTGTGGTATTAGAGGTCCACAAAGAACTATTTGGAGCAG___GTATGAAGCCTATTCATGCTGCAGACAAACAGCTGCTTATAGTGGCAAATGCCCACATGCATTGGGACCCAGAGTATTCTGATGTGAAGCTCATCCAGACCATGATGTTTGTCTCAGAGGTTAAAAACATTCTGGAGAAAGCCTCTAGTAGGCCTGGAAGCCCAAC)TGCAGATCCTAATTCCATCCCGCTGGTGCTATGTGCAGATCTTAACTCATTGCCAGATTCAG___GTGTTGTGGAATACTTAAGCAATGGAGGAGTcGCTGACAACCATAAAGACTTCAAGGAACTAAGGTACAATGAGTGTCTTATGAACTTCAGCTGCAATGGAAAGAATGGAAGCTCAGAAGGGAGAATCACACATGGCTTCCAACTTAAGAGCGCCTATGAAAATAACTTGATGCCTTACACCAATTACACCTTTGATTTCAAA|ATTTTATGCTCCAGCCAACTGAACAACCTGTAATGCTTCAAATATGTCGTGTTCTCCCATGTCTCCACCTTTTTTCACCTGTTGCTCC MRLIGMPKEKYDPPDPRRIYTIMSAEEVANGKKSHWAELEISGRVRSLSTSLWSLTHLTALHLNDNYLSRIPPDIAKLHNLVYLDLSSNKLRSLPAELGNMVSLRELLLNNNLLRVLPYELGRLFQLQTLGLKGNPLSQDILNLYQDPDGTRKLLNFMLDNLAVHPEQLPPRPWITLKERDQILPSASFTVMCYNVLCDKYATRQLYGYCPSWALNWEYRKKGIMEEIVNCDADIISLQEVETEQYFTLFLPALKERGYDGFFSPKSRAKIMSEQERKHVDGCAIFFKTEKFTLVQKHTVEFNQVAMANSDGSEAMLNRVMTKDNIGVAVVLEVHKELFGAGMKPIHAADKQLLIVANAHMHWDPEYSDVKLIQTMMFVSEVKNILEKASSRPGSPTADPNSIPLVLCADLNSLPDSGVVEYLSNGGVADNHKDFKELRYNECLMNFSCNGKNGSSEGRITHGFQLKSAYENNLMPYTNYTFDFK|ilcssqlnnl* 01BR009 ENSG00000162849.16 ENSG00000185420.19 +/+ -/+ chr1:245156683 chr1:245980295 CDS/splice-site intron deletion/5'-5' 0 2 0 9 4 medium out-of-frame . . . . ENSG00000162849.16 ENSG00000185420.19 ENST00000407071.7 . downstream upstream . ^(AGTTACCAAGCTCGGTGAAGGAGACAAGTTCCCACAGCTGACTCGGCTCGGCTCTCCCACCTTCCCGGCAGCGGCCGCGAGCCCTGATTGTATCCCTCGCTTTCCTCGTGGGGGAGCACGGACTGACTTGGCTGAAGAAAATGCCAGTTCTGTGGATGTGGCCGTGACAAGAGGACGTGCGGCTGGAAGAGGCAGAAGGGGACGAGGAAAAGCATGCTTTGAAGAGAAGAATAAACCAGCGACCCCAACCCTTTCTGCAAATTGGTGCTATTACTTGTGGGATCCATTTGCTTTCATTCCCTCCCACCCCACCGCTGAAGAAACCTTGCCCTGAGGGCTGAGAGCCAGCCCCCTGCAGCCGGGGGACGCTTCTGGGTTGGAGGACCTTCTGGATGTAGCGTCGGTGGAACCTTTAGATACTCTCCTCTGGAAAAGCCACCATGAATTCGGTAGCTGGGAATAAAGAGAGGCTTGCGGTCTCCACCAGGGGCAAGAAATACGGG___GTGAATGAAGTCTGCTCGCCCACCAAGCCCGCAGCGCCCTTCTCCCCGGAAAGCTGGTACCGGAAAGCATACGAGGAGTCGCGCGCCGGCAGCCGGCCCACTCCTGAGGGCGCGGGCTCAGCGCTCGGCTCCTCGGGGACCCCGTCTCCCGGCTCGGGCACCTCGTCCCCGAGCTCGTTCACCGGCTCCCCGGGACCCGCCTCCCCCGGCATCGGCACTAGTTCGCCGGGCTCCTTGGGCGGCTCTCCGGGCTTCGGCACAGGCTCCCCGGGCTCCGGCAGCGGCGGCGGCTCCTCCCCCGGCTCGGACCGCGGCGTCTGGTGCGAGAA)CTGCAACGCCCGCCTGGTGGAGCTCAAGAGGCAGGCCCTGAGGTTGCTCCTCCCGGGGCCCTTCCCGGGCAAG|GTAGTCAGACATGCCTCGGGAATGAAGGCAGGAATGTACTTCATCGACTCCACTCCTGTGATGTGAGATCCCTGAGGGCAGGACCCAAGTCCTACATCAACCCTAGAGCCCAGCACCAGG MNSVAGNKERLAVSTRGKKYGVNEVCSPTKPAAPFSPESWYRKAYEESRAGSRPTPEGAGSALGSSGTPSPGSGTSSPSSFTGSPGPASPGIGTSSPGSLGGSPGFGTGSPGSGSGGGSSPGSDRGVWCENCNARLVELKRQALRLLLPGPFPGK|vvrhasgmkagmyfidstpvm* 01BR009 ENSG00000140262.18 ENSG00000259542.5 +/+ -/+ chr15:57091891 chr15:96393347 CDS/splice-site exon deletion/5'-5' 2 0 0 99 24 medium out-of-frame . . . . ENSG00000140262.18 ENSG00000259542.5 ENST00000267811.9 . downstream upstream . ^(CGCGGAGGGATCCGGAGGCGAGCCGAGCGCGGTGGTGAGGCCGCCTCAGCGAAAAAAATGTCCGCCTGAAGAGACCCACAAGTTCTATTCGGGGGGACCGACAGCCCGCCCCGGGAGGAAGGGGCGGCCAGGCCCGAAAGCCGCCTCCCCCTCCCAGACCCGAGAGCTCGTGCGGGGCAAAGTGAACCGAGCCGCTGGGCGGTGCAAGGGGAAGCCCAAGCCCGTTCTCCCGGCCAAAGTGAACTTTAATCGGGGTGGTTGGATGCGGAGACGGGGCGGCAG___GACCTGCTAGAAGTGGCCGAAGATGAATCCCCAGCAACAACGCATGGCCGCTATAGGGACCGAC)AAGGAGCTGAGCGACCTACTGGACTTCAGTGCG___ATGTTTTCCCCACCTGTTAATAGTGGGAAAACTAGACCAACTACACTGGGAAGCAGTCAATTCAGTGGATCAG___GTATTGATGAAAGAGGAGGTACAACATCTTGGGGAACAAGTGGTCAACCAAGTCCTTCCTATGATTCATCTAGA___GGTTTTACAGACAGCCCTCATTACAGTGATCACTTGAATGACAGTCGATTAGGAGCCCATGAAGGCTTGTCCCCAACACCTTTCATGAACTCAAATCTGATGG|AAGTTCATGGATTCGAATGCCAAAGAC MNPQQQRMAAIGTDKELSDLLDFSAMFSPPVNSGKTRPTTLGSSQFSGSGIDERGGTTSWGTSGQPSPSYDSSRGFTDSPHYSDHLNDSRLGAHEGLSPTPFMNSNLM|evhgfecqr 01BR010 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 13 15 0 139 162 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1),mismatches(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGG)AGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 01BR010 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 13 0 29 37 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismappers(1) CATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCC(GACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR010 ENSG00000173473.11 ENSG00000047849.21 -/- -/- chr3:47590661 chr3:47928350 CDS/splice-site CDS/splice-site duplication 14 6 0 136 121 high in-frame . Myb-like_DNA-binding_domain(100%),SWIRM-associated_domain_at_the_C-terminal(100%),SWIRM-associated_domain_at_the_N-terminal(100%),SWIRM-associated_region_1(100%),SWIRM_domain(100%)|Tau_and_MAP_protein__tubulin-binding_repeat(100%) . . ENSG00000173473.11 ENSG00000047849.21 ENST00000254480.10 ENST00000395734.7 upstream downstream . ^(AGTGGCGGCTACGCGCGCGGGGGTGCGCGCGGGAACGACCGGGAAACACCGCGAGGGCCGGGGTGGGCCAGGCTGTGGGGACGACGGGCTGCGACGATGGCCGCAGCGGCGGGCGGCGGCGGGCCGGGGACAGCGGTAGGCGCCACGGGCTCGGGGATTGCGGCGGCAGCCGCAGGCCTAGCTGTTTATCGACGGAAGGATGGGGGCCCGGCCACCAAGTTTTGGGAGAGCCCGGAGACGGTGTCCCAGCTGGATTCGGTGCGGGTCTGGCTGGGCAAGCACTACAAGAAG___TATGTTCATGCGGATGCTCCTACCAATAAAACACTGGCTGGGCTGGTGGTGCAGCTTCTTCAGTTCCAGGAAGATGCCTTTGGGAAGCATGTCACCAACCCGGCCTTCACCAAACTCCCT___GCAAAGTGTTTCATGGATTTCAAAGCTGGAGGCGCCTTATGTCACATTCTTGGGGCTGCTTACAAGTATAAAAATGAACAGGGATG___GCGGAGGTTTGACCTACAGAACCCATCTCGAATGGATCGTAATGTGGAAATGTTTATGAACATTGAAAAAACATTGGTGCAG___AACAATTGTTTGACCAGACCCAACATCTACCTCATTCCAGACATTGATCTGAAGTTGGCTAACAAATTGAAAGATATCATCAAACGACATCAG___GGAACATTTACGGATGAGAAGTCAAAAGCTTCCCACCACATTTACCCATATTCTTCCTCACAAGACGATG___AAGAATGGTTGAGACCGGTGATGAGAAAAGAGAAGCAAGTGTTAGTGCATTGGGGCTTTTACCCAGACAG___CTATGATACTTGGGTCCATAGTAATGATGTTGATGCTGAAATTGAAGATCCACCAATTCCAGAAAAACCATGGAAG___GTTCATGTGAAATGGATTTTGGACACTGATATTTTCAATGAATGGATGAATGAGGAGGATTATGAGGTGGATGAAAATAGGAAGCCTGTGAGTTTTCGTCAGCGGATTTCAACCAAGAATGAAGAG___CCAGTCAGAAGTCCAGAAAGAAGAGATAGAAAAGCATCAGCTAATGCTCGAAAGAGGAAACATTCGCCTTCGCCTCCCCCTCCGACACCAACAGAATCACGGAAGAAGAGTGGGAAGAAAGG___CCAAGCTAGCCTTTATGGGAAGCGCAGAAGTCAGAAAGAGGAAGATGAGCAAGAAGATCTAACCAAGGATATGGAAGACCCAACACCTGTACCCAATATAGAAGAAGTAGTACTTCCCAAAAATG___TGAACCTAAAGAAAGATAGTGAAAATACACCTGTTAAAGGAGGAACTGTAGCGGATCTAG___ATGAGCAGGATGAAGAAACAGTCACAGCAGGAGGAAAG___GAAGATGAAGATCCTGCCAAAGGTGATCAGAGTCGATCAGTTGACCTTGGGGAAGATAATGTGACAGAGCAGACCAATCACATTATTATTCCTAGTTATGCATCATGGTTTGATTATAACTG___TATTCATGTGATTGAACGGCGTGCTCTTCCTGAGTTCTTCAATGGAAAAAACAAATCCAAGACTCCAGAAAT___ATACTTGGCATATCGAAATTTTATGATTGACACGTATCGTCTAAACCCCCAAGAGTATTTAACTAGCACTGCTTGTCGGAGGAACTTGACTGGAGATGTGTGTGCTGTGATGAG___GGTCCATGCCTTTTTAGAGCAGTGGGGACTCGTTAATTACCAAGTTGACCCGGAAAGTAGACCCATGGCAATGGGACCTCCTCCTACTCCTCATTTTAATGTATTAGCTGATACCCCCTCTGGGCTTGTGCCTCTGCATCTTCGATCACCTCAG___GTTCCTGCTGCTCAACAGATGCTAAATTTTCCTGAGAAAAACAAGGAAAAACCAGTTGATTTGCAGAACTTTGGTCTCCGTACTGACATTTACTCCAAGAAAACATTAGCAAAG___AGTAAAGGTGCTAGTGCTGGAAGAGAATGGACTGAACAGGAGACCCTTCTACTCCTGGAG___GCCCTGGAGATGTACAAGGATGATTGGAACAAAGTGTCGGAACATGTTGGAAGTCGTACTCAGGATGAATGCATCCTCCACTTTTTGAGACTTCCCATTGAGGACCCATACCTTGAGAATTCAGATGCTTCCCTTGGGCCTTTGGCCTACCAGCCTGTCCCCTTCAGTCAGTCAGGAAATCCAGTTATGAGTACTGTTGCTTTTTTGGCATCTGTGGTGGACCCTCGCGTGGCATCTGCTGCAGCAAAAGCGGCTTTGG___AGGAGTTTTCTCGGGTCCGGGAGGAGGTACCACTGGAATTGGTTGAAGCTCATGTCAAGAAAGTACAAGAAGCAGCACGAGCCTCTGGGAAAGTGGATCCCACCTACGGTCTGGAGAGCAGCTGCATTGCAGGCACAGGGCCCGATGAGCCAGAGAAGCTTG___AAGGAGCTGAAGAGGAAAAAATGGAAGCCGACCCTGATGGTCAGCAGCCTGAAAAG___GCAGAAAATAAAGTGGAAAATGAAACGGATGAAGGTGATAAAGCACAAGATGGAGAAAATGAAAAAAATAGTGAAAAGGAACAGGATAGTGAAGTGAGTGAGGATACCAAATCAG___AAGAAAAGGAGACTGAAGAGAACAAAGAACTCACTGATACATGTAAAGAAAGAGAAAGTGATACTGGGAAGAAGAAAGTAGAACATGAAATTTCCGAAGGAAATGTTGCCACAGCCGCAGCAGCTGCTCTTGCCTCAGCGGCTACCAAAGCCAAG___CACCTGGCTGCAGTGGAAGAAAGAAAGATCAAGTCCCTGGTAGCTCTCTTGGTTGAGACACAAATGAAGAAACTAGAGATCAAACTTCGACATTTTGAAGAGCTGGAAACTATCATGGACAGAGAGAAAGAAGCT___CTAGAACAACAGAGGCAGCAGTTGCTTACTGAACGCCAAAACTTCCACATGGAACAGCTGAAGTATGCTGAATTACGAGCACGACAGCAAATGGAACAGCAGCAGCATGGCCAGAACCCTCAACAGGCACACCAGCACTCAGGAGGACCTGGCCTGGCCCCACTTGGAGCAGCAGGGCACCCTGGCATGATGCCTCATCAACAGCCCCCTCCCTACCCTCTGATGCACCACCAGATGCCACCACCTCATCCACCCCAGCCAG___)GTCAGATACCAGGCCCAGGTTCCATGATGCCCGGGCAGCACATGCCAGGCCGCATGATTCCCACTGTTGCAGCCAACATCCACCCCTCTGGGAGTGGCCCTACCCCTCCTGGCATGCCACCAATGCCAGGAAACATCTTAGGACCCCGGGTACCCCTGACAGCACCTAACGGCATGT|GGTCTCCAACTGAATTCCTTGAAGAGAAAATGGCCTACCAGGAATACCCAAATAGCCAGAACTGGCCAGAAGATACCAACTTTTGTTTCCAACCTGAGCAAGTGGTtGATCCTATCCAGACTG___ATCCCTTTAAGATGTACCATGATGAT(GACCTGGCAGATTTGGTCTTTCCCTCCAGTGCGACAGCTGATACTTCAATATTTGCAGGACAAAATGATCCCTTGAAAGACAGTTACG___GTATGTCTCCCTGCAACACAGCTGTTGTACCTCAGGGGTGGTCTGTGGAAGCCTTAAACTCTCCACACTCAGAGTCCTTTGTTTCCCCAGAGGCTGTTGCAGAACCTCCTCAGCCAACGGCAG___TTCCCTTAGAGCTAGCCAAGGAGATAGAAATGGCATCAGAAGAGAGGCCACCAGCACAAGCATTGGAAATAATGATGGGACTGAAGACTACTGACATGGCACCATCTAAAGAAACAGAGATGGCCCTCGCCAAGGACATGGCACTAGCTACAAAAACCGAGGTGGCATTGGCTAAAGATATGGAATCACCCACCAAATTAGATGTGACACTGGCCAAGGACATGCAGCCATCCATGGAATCAGATATGGCCCTAGTCAAGGACATGGAACTACCCACAGAAAAAGAAGTGGCCCTGGTTAAGGATGTCAGATGGCCCACAGAAACAGATGTATCTTCAGCCAAGAATGTGGTACTGCCCACAGAAACAGAGGTAGCCCCAGCCAAGGATGTGACACTGTTGAAAGAAACAGAGAGGGCATCTCCTATAAAAATGGACTTAGCCCCTTCCAAGGACATGGGACCACCCAAAGAAAACAAGAAAGAAACAGAGAGGGCATCTCCTATAAAAATGGACTTGGCTCCTTCCAAGGACATGGGACCACCCAAAGAAAACAAGATAGTCCCAGCCAAGGATTTGGTATTACTCTCAGAAATAGAGGTGGCACAGGCTAATGACATTATATCATCCACAGAAATATCCTCTGCTGAGAAGGTGGCTTTGTCCTCAGAAACAGAGGTAGCCCTGGCCAGGGACATGACACTGCCCCCGGAAACCAACGTGATCTTGACCAAGGATAAAGCACTACCTTTAGAAGCAGAGGTGGCCCCAGTCAAGGACATGGCTCAACTCCCAGAAACAGAAATAGCCCCGGCCAAGGATGTGGCTCCGTCCACAGTAAAAGAAGTGGGCTTGTTGAAGGACATGTCTCCACTATCAGAAACAGAAATGGCTCTGGGCAAGGATGTGACTCCACCTCCAGAAACAGAAGTAGTTCTCATCAAGAACGTATGTCTGCCTCCAGAAATGGAGGTGGCCCTGACTGAGGATCAGGTCCCAGCCCTCAAAACAGAAGCACCCCTGGCTAAGGATGGGGTTCTGACCCTGGCCAACAATGTGACTCCAGCCAAAGATGTTCCACCACTCTCAGAAACAGAGGCAACACCAGTTCCAATTAAAGACATGGAAATTGCACAAACACAAAAAGGAATAAGTGAGGATTCCCATTTAGAATCTCTGCAGGATGTGGGGCAGTCAGCTGCACCTACTTTCATGATTTCACCAG___AAACCGTCACAGGAACGGGGAAAAAGTGCAGCTTGCCGGCCGAGGAGGATTCTGTGTTAGAAAAACTAGGGGAAAGGAAACCATGCAACAGTCAACCTTCTGAGCTTTCTTCAGAGACCTCAG___GAATAGCCAGGCCAGAAGAAGGAAGGCCTGTGGTGAGTGGGACAGGAAATGACATCACCACCCCACCGAACAAGGAGCTCCCACCAAGCCCAGAGAAGAAAACAAAG___CCTTTGGCCACCACTCAACCTGCAAAGACTTCAACATCGAAAGCCAAAACACAGCCCACTTCTCTCCCTAAGCAGCCAGCTCCCACCACCATTGGTGGGTTGAATAAAAAACCCATGAGCCTTGCTTCAGGCTTAGTGCCAGCTGCCCCACCCAAACGCCCTGCCGTCGCCTCTGCCAGGCCTTCCATCTTACCTTCAAAAGACGTGAAGCCAAAG___CCCATTGCAGATGCAAAGGCTCCTGAGAAGCGGGCCTCACCATCCAAGCCAGCTTCTGCCCCAGCCTCCAGATCTGGGTCCAAGAGCACTCAGACTGTTGCAAAAACCACAACAGCTGCTGCTGTTGCCTCAACTGGCCCAAGCAGTAGGAGCCCCTCCACGCTCCTGCCCAAGAAGCCCACTG___CCATTAAGACTGAGGGAAAACCTGCAGAAGTCAAGAAGATGACTGCAAAGTCTGTACCAG___CTGACTTGAGTCGCCCAAAGAGCACCTCCACCAGTTCCATGAAGAAAACCACCACTCTCAGTGGGACAGCCCCCGCTGCAGGGGTGGTTCCCAGCCGAGTCAAGGCCACACCCATGCCCTCCCGGCCCTCCACAACTCCTTTCATAGACAAGAAGCCCACCTCGGCCAAACCCAGCTCCACCACCCCCCGGCTCAGCCGCCTGGCCACCAATACTTCTGCTCCTGATCTGAAGAATGTCCGCTCCAAGGTTGGCTCCACGGAAAACATCAAGCATCAGCCTGGAGGAGGCCGG___GCCAAAGTAGAGAAAAAAACAGAGGCAGCTGCTACAACCCGAAAGCCTGAATCTAATGCAGTCACTAAAACAGCCGGCCCAATTGCAAGTGCACAGAAACAACCTGCGGGGAAA___GTCCAGATAGTCTCCAAAAAAGTGAGCTACAGCCATATTCAGTCCAAGTGTGGTTCCAAGGACAATATTAAGCATGTCCCTGGAGGTGGTAAT___GTTCAGATTCAGAACAAGAAAGTGGACATCTCTAAGGTCTCCTCCAAGTGTGGGTCTAAGGCTAACATCAAGCACAAGCCTG___GTGGAGGAGATGTCAAGATTGAAAGTCAGAAGTTGAACTTCAAGGAGAAGGCCCAGGCCAAGGTGGGATCCCTCGATAATGTGGGCCACCTACCTGCAGGAGGTGCTGTGAAG___ATTGAGACCTACAGGCTGACGTTCCGGGCAAATGCCAGGGCCCGCACCGACCACGGGGCCGACATTGTCTCCCGCCCCCCACACTTCCCTGGCGGCCCCAACTCGGGCTCCCGGGTCCTTGGCCCCCTTTCCCGGGCTGTCCACTAGACCAGTGAGCGCTTGGGCGCCGTGCTGGGCAGCCCGCTAGGCTCGCCTTCCCTCCTGCTTTGCGTGCCCGGGGCAGCAGCAGCCCTGCCCCACACCTCCTCTCACTCCCCAGCCTGGGCCCATCTCCCTGCTTTGGTCTTGCCCCATCACTGCGCCACTGCTCCGTGGAGGAGGTTGGGAGGGGGTTGGGGTGGTTGAGGCTAAGTTGGGATCTAGGAGAGGAGAACCAGATTCTATCCTCATCTTTTTTTGGTTCTTTGGTCCAAACCCAAAAGAAACTGACATGCCCTCCCTTCTCCCTGGATCTACCTGGAGGGAAGAGTGGAGGTGGATTCCGAGTGGTGACAGGACGCTGACCGTGGAGCTTAAGCCACTGCCTCTCCCTCTGGTCCCACAAATGGGCGCCCCCCCCTCCCCATGCAGGTGGTGTCGGGCCCTTCTTGCTGCCCTGCCCCAAGTTGGGGGTCAGTGCTGCCTGTCCCCATGCTTAACATACCCGCCTAGCTGCTGTCACATTTTTCTTGTTTTGTCCTTTTATTTTTTTCTAATAACCTAAAAACTGGCAAAATAGTTCTGCAGGTTGAAGCCATGTCTACATGAAAGTCCTCAGTAAGTGTTAGAGGGAACAGGGCGGAGATATCCTTATGCCACCCCCGCTGGAGGATGTGGGCAGCTTAGGGCCCTGGAGGCGGTGCGGCAGGGAAGAGGGGTGCAGAGGCTGTGGCTGGTGAGCCGGTCAGGCACACAAGGGGCCCTTGGAGCGTGGACTGGTTGGTTTTGCCATTTTGTTGTGTGTATGCTGCTTTTCTTTTCTAACCAAGAGGCTGGTTTTGGCATCTCTGTCCCATTCCCTGGGATCTGGTGGTCAGCCCTAGGATAAAAAGCCAGGGCTGGAGAACAAGAAAGGGCCAGGAGATGGAATTCCTTCAGGCCGGCACCCACACCCTAGGACATGTAAGCCCTCATGTCCAAGGGAGCCTCATGCAGATAGTAGGAAATCAGGTCTGGAAATTTAAAAATAAAAGGCATGAGACTAAGGCTATCTGCTTCCCTTATGCCCTGACTGGAGAGGGGAGGGAGGAGAGGCAAGGCCCACAGAGGGCATCCCAGCTAGGCCTTGGGATGGCTGCAGTGAGGAGAAATCCCGGGAACTGTATTGACACAAAGATTCTTATTGCACTTGTATTTTTTGTATTAAAGTTTGCATGGTTTCTAATAAAGGATTCAAACATAAGTTTGTAGTGAAATGGCCTGGGAGATTCCAAGGGCTTCTCTGGAGGGGGATTGGCTGCAGTGTAGATTTGCCTCTGAGGAGGCTGCCCCAGACTTGGCCTCCTCATGCCCCCTCCTGACCTCTGCCCTTCTCTGGTCCTGGCATCCCTGGAGAAGGTAGGGGTCTTGACCTAAGTTTAGATTTGATCTCCATGTGCAGGGAGGCTGTCCTGGGCCTGACAGGTCCTCCCCCTTTCTGAGGTAGCAGTGCCTTGTGGAGGTTTGACACCATGTCCCTAGCTCCCCAAGCACACACCAGGAAACTGCAGGGGCTCACGGAGGAAGTGCTGCCTGGGCCAGGGGGACCAGCTTTCCTCCGTAGAGACCATGTGCAGAACACTTCTGCTGTGCCAAGAACATGAGGGAGCCAGTGTTTTGTCAGCAGGAAGAAAGGGCCTGCTGGGATGAAAGTGGGAAGGAAACAGGGTTGCGTAGTCAGGAGACACCTCAGGGGCAACAGCACAGGCCCAGAGTACCTGCTGCCTCCACTGCGTCTGTCCTGGGGTCATGAGGATGCTGAGGTTGACGACAGGTTCCAGGTCCTTTCACTCCTTTGGCCAAAGGTTGGGGGTAGGTGGCCCAAGTGGCGTGCTCTCTAGGTAGACAACAGGAGTGGTCAGAGTTCCCTCAAAGGATCCTCCACTCCAGAGCACCTGAGAAGGCCGGGACCAGAGGCCCTGTGTGATGTGTACTCCGCAGCTGTTTGGGGTGGGACATTTCTGTACTTCTCGATTTGCTTATGGCTCAGCCATTACCTGTGTCAGTCCATGATTCTGTTGTAACAGTTTTAAGAGTAAATAAATAAAGCTGCCTGATGTCCCATC)$ MAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVVQLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGALCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYLIPDIDLKLANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRKEKQVLVHWGFYPDSYDTWVHSNDVDAEIEDPPIPEKPWKVHVKWILDTDIFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLYGKRRSQKEEDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGGKEDEDPAKGDQSRSVDLGEDNVTEQTNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRVHAFLEQWGLVNYQVDPESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPVDLQNFGLRTDIYSKKTLAKSKGASAGREWTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLENSDASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVASAAAKAALEEFSRVREEVPLELVEAHVKKVQEAARASGKVDPTYGLESSCIAGTGPDEPEKLEGAEEEKMEADPDGQQPEKAENKVENETDEGDKAQDGENEKNSEKEQDSEVSEDTKSEEKETEENKELTDTCKERESDTGKKKVEHEISEGNVATAAAAALASAATKAKHLAAVEERKIKSLVALLVETQMKKLEIKLRHFEELETIMDREKEALEQQRQQLLTERQNFHMEQLKYAELRARQQMEQQQHGQNPQQAHQHSGGPGLAPLGAAGHPGMMPHQQPPPYPLMHHQMPPPHPPQPGQIPGPGSMMPGQHMPGRMIPTVAANIHPSGSGPTPPGMPPMPGNILGPRVPLTAPNGM|wSPTEFLEEKMAYQEYPNSQNWPEDTNFCFQPEQVVDPIQTDPFKMYHDDDLADLVFPSSATADTSIFAGQNDPLKDSYGMSPCNTAVVPQGWSVEALNSPHSESFVSPEAVAEPPQPTAVPLELAKEIEMASEERPPAQALEIMMGLKTTDMAPSKETEMALAKDMALATKTEVALAKDMESPTKLDVTLAKDMQPSMESDMALVKDMELPTEKEVALVKDVRWPTETDVSSAKNVVLPTETEVAPAKDVTLLKETERASPIKMDLAPSKDMGPPKENKKETERASPIKMDLAPSKDMGPPKENKIVPAKDLVLLSEIEVAQANDIISSTEISSAEKVALSSETEVALARDMTLPPETNVILTKDKALPLEAEVAPVKDMAQLPETEIAPAKDVAPSTVKEVGLLKDMSPLSETEMALGKDVTPPPETEVVLIKNVCLPPEMEVALTEDQVPALKTEAPLAKDGVLTLANNVTPAKDVPPLSETEATPVPIKDMEIAQTQKGISEDSHLESLQDVGQSAAPTFMISPETVTGTGKKCSLPAEEDSVLEKLGERKPCNSQPSELSSETSGIARPEEGRPVVSGTGNDITTPPNKELPPSPEKKTKPLATTQPAKTSTSKAKTQPTSLPKQPAPTTIGGLNKKPMSLASGLVPAAPPKRPAVASARPSILPSKDVKPKPIADAKAPEKRASPSKPASAPASRSGSKSTQTVAKTTTAAAVASTGPSSRSPSTLLPKKPTAIKTEGKPAEVKKMTAKSVPADLSRPKSTSTSSMKKTTTLSGTAPAAGVVPSRVKATPMPSRPSTTPFIDKKPTSAKPSSTTPRLSRLATNTSAPDLKNVRSKVGSTENIKHQPGGGRAKVEKKTEAAATTRKPESNAVTKTAGPIASAQKQPAGKVQIVSKKVSYSHIQSKCGSKDNIKHVPGGGNVQIQNKKVDISKVSSKCGSKANIKHKPGGGDVKIESQKLNFKEKAQAKVGSLDNVGHLPAGGAVKIETYRLTFRANARARTDHGADIVSRPPHFPGGPNSGSRVLGPLSRAVH* 01BR010 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 15 3 0 157 78 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream inconsistently_clipped(1),mismatches(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAG)GCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR010 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 10 0 14 44 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) GTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCaGCGGCGGCGGCGGCGGCGGCGGC?GC???AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTA(ATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 01BR010 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 4 6 0 96 13 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAG)CTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTG___ATTCAAGGCCTCTTCCAGATGTAGC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvdsrplpdv 01BR010 ENSG00000086015.22 ENSG00000134376.16(2210),ENSG00000213047.13(24083) +/+ ./+ chr1:46023318 chr1:197480665 CDS/splice-site intergenic deletion 3 1 0 82 26 high out-of-frame . Domain_of_unknown_function_(DUF1908)(100%),Protein_kinase_domain(100%)| . . ENSG00000086015.22 . ENST00000361297.7 . downstream upstream . ^(GTAGGCAGGCGGCTGAGCCGGCGGCGGGTGGCCTGCCCAACGTGTGCTGGGTGGGAGAAGGCGAGGCGTCAGCGATGCTGTCTCTTCCGTGAGGAGCGCAGAGGAGGTCGCGGCGCCGGAGGCCCCAGAAGGCTCGAAGGCGCCGCGGGCTGGGGTCGGTGGCTTAGGGAGCCCGTCCGGCCATGGTGGCCGCGGGTGGTGGTTGGCGCGGCTGCGCTGCGGCCCGGGGCAGTGCGGAGCCGGGACAGTCGCGGCGCTGACGCCCGCGGGCCCCAGCTGCAGATATGAAGCGGAGCCGCTGCCGCGACCGACCGCAGCCGCCGCCGCCCGACCGCCGGGAGGATGGAGTTCAGCGGGCAGCGGAGCTGTCTCAGTCTTTGCCGCCGCGCCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAGCAG___GATGTAGTAACTGGAGTTAGTCCCCTGCTCTTCAGGAAACTCAGTAATCCTGACATATTTTCATCCACTGGAAAAGTTAAACTTCAGCGACAACTGAGTCAGGATGATTGTAAGTTATGGAGAGGAAACCTGGCCAGCTCTCTATCGG___GTAAGCAGCTGCTCCCTTTGTCCAGCAGTGTACATAGCAGTGTGGGACAGGTGACTTGGCAGTCGTCAGGAGAAGCATCAAACCTGGTTCGAATGAGAAACCAGTCCCTTGGACAGTCTGCACCTTCTCTTACTGCTGGCCTG___AAGGAGTTGAGCCTTCCAAGAAGAGGCAGCTT___TTGTCGGACAAGTAACCGCAAGAGCTTGATTGTGACCTCTAGCACATCACCTACACTACCACGGCCACACTCACCACTCCATGGCCACACAG___GTAACAGTCCTTTGGACAGCCCCCGGAATTTCTCTCCAAATGCACCTGCTCACTTTTCTTTTGTTCCTGCCCGTAG___GACTGATGGGCGGCGCTGGTCTTTGGCCTCTTTGCCCTCTTCAGGATATGGAACTAACACTCCTAGCTCCACTGTCTCA___TCATCATGCTCCTCACAGGAAAAGCTGCATCAGTTGCCTTTCCAGCCTACAGCTGATGAGCTGCACTTTTTGACGAAGCATTTCAGCACAGAGAGCGTACCAGATGAGGAAGGACGGCAGTCCCCAGCCATGCGGCCTCGCTCCCGGAGCCTCAG___TCCCGGACGATCCCCAGTATCCTTTGACAGTGAAATAATAATGATGAATCATGTTTACAAAGAAAGATTCCCAAAG___GCCACCGCACAAATGGAAGAGCGACTAGCAGAGTTTATTTCCTCCAACACTCCAGACAGCGTGCTGCCCTTGGCAGATGGAGCCCTGAGCTTTATTCATCATCAGGTGATTGAGATGGCCCGAGACTGCCTGGATAAATCTCGGAGTGGCCTCATTACATCACAATACTTCTACGAACTTCAAGATAATTTGGAGAAACTTTTACAAGAT___GCTCATGAGCGCTCAGAGAGCTCAGAAGTGGCTTTTGTGATGCAGCTGGTGAAAAAGCTGATGATTATCATTGCCCGCCCAGCACGTCTCCTGGAATGCCTG___GAGTTTGACCCTGAAGAGTTCTACCACCTTTTAGAAGCAGCTGAGGGCCACGCCAAAGAGGGACAAGGGATTAAATGTGACATTCCCCGCTACAT)CGTTAGCCAGCTGGGCCTCACCCGGGATCCCCTAGAAG___AAATGGCCCAGTTGAGCAGCTGTGACAGTCCTGACACTCCAGAGACAGATGATTCTATTGAG___GGCCATGGGGCATCTCTGCCATCTAAAAAGACACCCTCTGAAGAGGACTTCGAGACCATTAAGCTCATCAGCAATGGCGCCTATGG|GCGACCCTGAGATTGCCATACTGTGAAGAAGCTTGGAATGAAAATAACATGTCAAGAGAGAGTCCCAGCCATGCCAGACATCCCTGCTGAACCCGGCCTCA MKRSRCRDRPQPPPPDRREDGVQRAAELSQSLPPRRRAPPGRQRLEERTGPAGPEGKEQDVVTGVSPLLFRKLSNPDIFSSTGKVKLQRQLSQDDCKLWRGNLASSLSGKQLLPLSSSVHSSVGQVTWQSSGEASNLVRMRNQSLGQSAPSLTAGLKELSLPRRGSFCRTSNRKSLIVTSSTSPTLPRPHSPLHGHTGNSPLDSPRNFSPNAPAHFSFVPARRTDGRRWSLASLPSSGYGTNTPSSTVSSSCSSQEKLHQLPFQPTADELHFLTKHFSTESVPDEEGRQSPAMRPRSRSLSPGRSPVSFDSEIIMMNHVYKERFPKATAQMEERLAEFISSNTPDSVLPLADGALSFIHHQVIEMARDCLDKSRSGLITSQYFYELQDNLEKLLQDAHERSESSEVAFVMQLVKKLMIIIARPARLLECLEFDPEEFYHLLEAAEGHAKEGQGIKCDIPRYIVSQLGLTRDPLEEMAQLSSCDSPDTPETDDSIEGHGASLPSKKTPSEEDFETIKLISNGAYg|rp* 01BR010 ENSG00000165487.14 ENSG00000132932.17 -/- +/- chr13:21566797 chr13:25392908 CDS/splice-site intron duplication/5'-5' 1 3 0 133 4 high out-of-frame . . . . ENSG00000165487.14 ENSG00000132932.17 ENST00000382374.9 . upstream downstream mismatches(1) ^(GCCTAGCTGCGCTTCCGCAAAGATGGCGGCGGCTGCGGGTAGCTGCGCGCGGGTGGCGGCCTGGGGCGGAAAACTGCGACGGGGGCTCGCTGTCAGCCGACAGGCTGTGCGGAGTCCCGGCCCCTTGGCAGCGGCAGTGGCCGGCGCGGCCCTGGCAGGAGCAGGAGCGGCCTGGCACCACAGCCGCGTCAGTGTTGCGGCGCGGGATGGCA)GTTTTACAGTCTCCGCACAG___AAAAATGTTGAACATGGAATAATATATATTGGGAAACCGTCTCTTCGTAAGCAGCGCTTCATGCAGTTTTCTTCACTCGAACATGAAGGAGAATATTATATGACACCACGAGACTTCCTCTTCTCAGTGATGTTTGAGCAAATGGAAC|AGATGAGGCTTCATTGTTTTGCCCAGTCTGGTCTCAAACTCCTGGCCTGAAGCAATCCTCCTGCCTCAGCCTCCCAAGTCACTGGAACTACAG___GTCTTCTCTCCCCAGCCAGATGGTAAACACCTTGGAAATGGGAACTATGGAGTATTATGCATCCTTCATCCACAACTATGAATCCAGG...___CCCAGCTCAAC MAAAAGSCARVAAWGGKLRRGLAVSRQAVRSPGPLAAAVAGAALAGAGAAWHHSRVSVAARDGSFTVSAQKNVEHGIIYIGKPSLRKQRFMQFSSLEHEGEYYMTPRDFLFSVMFEQME|qmrlhcfaqsglklla* 01BR010 ENSG00000139117.14 ENSG00000257237.1 -/- -/- chr12:38723772 chr12:39058112 CDS/splice-site intron duplication 1 2 0 39 3 high out-of-frame . C2_domain(100%)| . . ENSG00000139117.14 ENSG00000257237.1 ENST00000360449.3 ENST00000552843.1 upstream downstream . ^(GGTGATGGCTTCACAGGGAGATACATGAGTCAACATTTATCGAATGATGGATGCACTTTAAGTGCAGTTCATTATATATGTTATACCTCACTGAAGTGGAAACAAATTGGAT___AAATCTTCTTGACAGAGACACATTTTCTAAATCTGATCCAA___TTTGTGTCTTATATGTACAAGGAGTTGGAAATAAAGAATGGAGAGAG___TTTGGAAGAACTGAAGTAATTGATAATACTTTAAATCCTGATTTTGTAAGAAAGTTTATTCTGGACTACTTTTTTGAAGAAAGAGAGAATCTTCGTTTTGACTT___GTATGATGTTGATTCAAAGAGCCCCAACTTATCCAAACAT___GACTTTCTGGGACAAGTGTTTTGTACATTGGGAGAGATCGTTGGTTCACAGGGAAGTCGCCTGGAAAAACCAATAGT___AGGAATTCCAGGGAAGAAATGTGGTACAATCATACTTACAGCAGAGGAATTAAACTGTTGCAGG___GATGCCGTTTTGATGCAATTTTGTGCGAACAAATTGGACAAGAAGGACTTCTTTGGAAAATCAGATCCTTTCCTTGTATTTTATCGAAGTAATGAAGATGGCAG___TTTTACAATTTGTCACAAGACAGAAGTTGTCAAAAACACTCTAAATCCAGTATGGCAAGCATTCAAGATCTCAGTCAGAGCATTATGTAATGGAGACTATGACAG___AACAATCAAAGTAGAGGTGTATGACTGGGACCGAGATGGAAG___TCATGATTTCATTGGAGAATTTACAACAAGCTATAGGGAACTTTCTAGAGGGCAGTCACAATTCAACGTATATGAG___GTGG)TGAATCCCAAAAAGAAAGGAAAAAAGAAAAAATATACTAATTCTGGAACA___GTAACTTTACTCTCTTTCTTGGTAGAAACAGAAGTTTCATTCCTTGACTACATTAAGGGAGG|AAACCACTCTTAGCCCATATCCTTCTTTAACATTCCGGACTATTGGAGGAATTCTTGACTTCAACATGTTTCTGGACCCCACTCC$ MHFKCSSLYMLYLTEVETNWINLLDRDTFSKSDPICVLYVQGVGNKEWREFGRTEVIDNTLNPDFVRKFILDYFFEERENLRFDLYDVDSKSPNLSKHDFLGQVFCTLGEIVGSQGSRLEKPIVGIPGKKCGTIILTAEELNCCRDAVLMQFCANKLDKKDFFGKSDPFLVFYRSNEDGSFTICHKTEVVKNTLNPVWQAFKISVRALCNGDYDRTIKVEVYDWDRDGSHDFIGEFTTSYRELSRGQSQFNVYEVVNPKKKGKKKKYTNSGTVTLLSFLVETEVSFLDYIKGg|nhs* 01BR010 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39109798 3'UTR exon/splice-site deletion 0 1 1 64 3 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000647271.1 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAA)TCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|AAAAATCTTCATGGAGTGGCAAAAGTTGTTTACCTGAAGCTCACAAGATGTATCCAGAAAATATCACCAGGGATCAGATCAAGCCTGACCCCCATTTT___ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGG(ACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG)$ . 01BR010 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 3 3 0 96 9 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCAC)CAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTGaCCACATTGAGGAATCGTGTAAAATGAATGTATGTGCTCGTAAGTGAAATATATGCAGTGTTCCAACTCAATATGTTGGATCCT...TTCCCAAGGGGCAGGATCACTAACTGATTAAAATGAAGCTTTGAGTTTGAAGAAAACAAAAAAGGCTTTAAAATAAGATCTCTGCAAAAAGGAATCAAACTGTGCTTTTTAAACAAGTGAAAAAAATCAAGCTCTCAATATGGAATAAAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnpsdhieesckmnvcark* 01BR010 ENSG00000114030.13 ENSG00000173200.13 -/- +/- chr3:122457726 chr3:122648941 intron 3'UTR duplication/5'-5' 1 3 0 9 7 medium stop-codon . Armadillo/beta-catenin-like_repeat(100%),Importin_beta_binding_domain(100%)| . . ENSG00000114030.13 ENSG00000173200.13 ENST00000344337.11 . upstream downstream . ^(GCACTGCGAACGCCGGCTGAGCTGAGTCTCGCTGCTCGGTGCGAGGCGGCGGAGAGCGAGGCCTGGTGAGCACCGCCGAGGCGCGGGCCAGCTCTTCGAGGTTGTGCGCGGGAGTGGCACGGCGGGCGGGCGAGCGAGGGGCTAACTTCAGCGGTGGCACCGGGATCGGTTGCCTTGAGCCTG___AAATCATGACCACCCCAGGAAAAGAGAACTTTCGCCTGAAAAGTTACAAGAACAAATCTCTGAATCCCGATGAGATGCGCAGGAGGAGGGAGGAAGAAGGACTGCAGTTACGAAAGCAGAAAAGAGAAGAGCAG___TTATTCAAGCGGAGAAATGTTGCTACAGCAGAAGAAGAAACAGAAGAAGAAGTTATGTCAGATGGAGGCTTTCATGAGGCTCAGATTAGTAACATGGAGATGGCACCA___GGTGGTGTCATCACTTCTGACATGATTGAAATGATATTTTCCAAAAGCCCAGAGCAACAGCTTTCAGCAACACAGAAATTCAGGAAGCTGCTTTCAAAAG___AACCTAACCCTCCTATTGATGAAGTTATCAGCACACCAGGAGTAGTGGCCAGGTTTGTGGAGTT)CCTCAAACGAAAAGAGAATTGTACACTGCAG___GTGAGCCTGGCATTTGCTAGGAACCAGAGTGGAACCGGCAAAGTGGCCAGCAACAGAGTCCTGATCCAAATGGAGAAAGGGAACCAGGCGTACCTCAACCTGGAGTGGGAAACTTGATAGGAG|ATATGACTTGCTCCTCCTTGTCTTCCACCATGATTGTGAGGCCTCCCCAGCCACGTGGAACT___AGAAGAAACTGGAAGGGAGACATGAGAAATTGGCAGTGGTTTTCCCTTAGTGCTGGAATTATGAGTGAGTTTG___CTTCCAAGATGGCCCCCAATGAgCCTTGCCAGTGGAGTATTCATG . 01BR015 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 20 0 21 43 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream . GCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCA(ACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 01BR015 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 7 0 141 40 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGA)AGAACTCAGcCGCTTGGAAGAACTCAGAAACCAAGAGaTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELsRLEELRNQEmQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR015 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 3 8 0 19 18 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream mismatches(1) AAGCAGGAAATCCCAGAGCTTCAAACTG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCC(TCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 01BR015 ENSG00000149639.15 ENSG00000196172.9 -/- -/+ chr20:36829054 chr19:23757633 CDS/splice-site intron translocation/5'-5' 2 3 0 25 6 high out-of-frame . . . . ENSG00000149639.15 ENSG00000196172.9 ENST00000237536.9 . upstream upstream . ^(GCACTCTCCGAGCCCAGAGCAGCGGAGAGACCGCGCGGCGGGGCTTGGGACGGGGACGCGGTGTCGGGGCCGAGGTGGGCCGAGAGCAGCCGCAGCCCCAGCGGCCGGAGCCGCGCCGGGTCCCTCCCCAGGGACGTCGAGGCCGGGCGGGCCTGGGCCATGCGCGCAGCTCGCTGAGGCCGAGGGAGGCCGCGATGGAGGCGCCGGCGGCCGAGCCCCCGGTCCGGGGCTGCGGTCCCCAGCCCGCGCCTGCACCCGCGCCTGCCCCGGAGAGGAAAAAGAGCCACCGCGCGCCGTCGCCGGCCCGGCCCAAAGACGTGGCCGGCTGGTCGCTGGCTAAGGGCCGCCGCGGCCCAGGCCCGGGCTCAGCAGTCGCCTGCAGCGCCGCGTTCTCCTCACGGCCGGACAAGAAGGGGCGCGCAGTGGCTCCCGGGGCGCGCGGTGCGGGTGTGCGGGTGGCCGGGGTCCGCACCGGGGTCCGTGCCAAGGGCCGTCCGCGCTCGGGTGCGGGGCCGCGACCGCCACCGCCGCCCCCCAGCCTCACGGATAGCAGCTCGGAGGTGTCGGACTGCGCGTCGGAGGAGGCGCGCCTGCTGGGCCTGGAGCTGGCGCTGAGCAGCGACGCCGAGTCCGCGGCCGGGGGCCCGGCGGGGGTCCGTACGGGGCAGCCGGCCCAGCCCGCGCCCTCCGCGCAGCAGCCCCCGCGGCCGCCCGCCTCCCCGGACGAGCCGTCGGTGGCCGCGTCGTCGGTGGGCAGCAGCCGCTTGCCGCTCAGCGCCTCGCTTGCCTTCTCCGACCTCACCGAGGAGATGCTGGACTGCGGGCCCAGCGGCTTGGTGCGGGAGCTGGAGGAGCTGCGCTCGGAGAACGACTATCTCAAG___GACGAGATTGAGGAGCTGCGGGCCGAGATGCTGGAGATGCGGGACGTCTATATGGAGGAGGACGTGTATCAGCTGCAGGAGCTGCGACAGCAGCTGGACCAGGCCAGCAAGACCTGCCGCATCCTGCAGTACCGGCTGCGCAAAGCCGAGCGCCGCAGTCTCCGTGCCGCCCAGACCGGCCAGGTGGACGGCGAGCTTATCCGTGGTCTGGAGCAGGAT)GTCAAG___GTCTCTAAGGACATCTCCATGCGGCTGCATAAGGAGCTCGAGGTGGTGGAGAAGAAACGGGCGCGGCTGGAGGAGGAGAACGAAGAGCTTCGTCAGCGGCTCATCGAGACTGAGCTGGCTAAGCAGGTGCTGCAGACGGAGCTGGAGCGACCGAGAGAG|GAATTGTAAGCACCAGCCCTAGCAGCAGAATTCACCAGCCAAAACTCCGATCTCCAAAAATCAGTTCTATGAGGCAAGACTTAAGGGTAGGGCCAGACCTAAATAAGGCCTCCAAAAAGGTGAACCTGAGCAGAACTGGGGCAGGGAGTGGACTCTATATAGAATTCTGTTCTCTATGCC MEAPAAEPPVRGCGPQPAPAPAPAPERKKSHRAPSPARPKDVAGWSLAKGRRGPGPGSAVACSAAFSSRPDKKGRAVAPGARGAGVRVAGVRTGVRAKGRPRSGAGPRPPPPPPSLTDSSSEVSDCASEEARLLGLELALSSDAESAAGGPAGVRTGQPAQPAPSAQQPPRPPASPDEPSVAASSVGSSRLPLSASLAFSDLTEEMLDCGPSGLVRELEELRSENDYLKDEIEELRAEMLEMRDVYMEEDVYQLQELRQQLDQASKTCRILQYRLRKAERRSLRAAQTGQVDGELIRGLEQDVKVSKDISMRLHKELEVVEKKRARLEEENEELRQRLIETELAKQVLQTELERPRE|el* 01BR015 ENSG00000141867.17 ENSG00000225470.8 -/- +/+ chr19:15332290 chrX:74004270 5'UTR/splice-site exon/splice-site translocation 0 3 0 1 47 medium . . . . . ENSG00000141867.17 ENSG00000225470.8 ENST00000360016.9 ENST00000639185.1 upstream upstream . ^(GACGTCAGTGCGCTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTGGGCTGTTTGTTCTGGTCTCCCGCAGCCGAGGAGCCGAAGCAGTGGCGGCGGCAGCGGCTGCGGCGGCTGCCGGCGGTGCCCGCGGGCGAGCGCGGCCTGTGAGCTCGGCAGAGCGGCGGGCGGGCCCCGGCGCCGCGCAGGCAGCTCGGGGAGGGGGCGGC)GGCAGCGGGCGGACGGCCGGCGGGGGCGGCGTGCGGCCTAGCGTCTCAG|AAATACAAAAAAAATTCTAAAACTTGTATGGAACTACAAAAGACATTAAATAATCAAAGTAATCTTGAGCAACAAGGACACAGCTGGAGGCATCACTCTACCTGATTTTGTAATCCATTATCAAAAAACTGTGGTACCAGCATAAAAACAGATTCAC(TGACCAGTGGAACAGGAAAGCCCAGACATAACTCATACATTTCCATCCAATTGATTTTTGACAAAAGTGGCACACAGAATGGGGAGAGGACAAATAAATAAATAAATTGTTTTGAGATATCTGTATATCTATATGTGAAATTGAACCATTTTCTCATAGCATATAGAAAAATCAACTCAAAATGGATTAAAGCCTGAAATGTTGCCTTTGAAACTGTAAAACTACTAGTAGAAAATATAGGGGAAAAGCTCTATGATGTTGTTCTGGGCAATGATTTCTTGGATACATCCTTAAAAGCATGGGCAGCAAAAACAGCCAGACAACTATCAGGGAACCTGCCCAGATAGTCACATAGGTTCTTTTCTATTTTCCCTAAGCATTGGCCGGGTTGAGAAATAAAGGGACAGAGTACAAAAGAGAGAAATTTTAAAGCTGGGCATCCTGGGGAGACATCACATGTCGGTAGGTTCCGTGATGCCCCCTGAGCCGTAAAACCAGTAAGTTTTTATTAGGGATTTTCAAAGGGGAGGGAGTATACGAATAGGAGGTGGGTCACAGAGATCACGTGCTTCACAAGGTAATAGAATATCACAAGGCAAATGGAGGCAGGGCGAGATCACAGGACCACAGGACTGGGTTGAAATTAAAATTGCTAATGAAGTTTCGGGCACCATCGTCATTGATAACATCTTATCAGGAGACAGGGTTTGAGAGCAACCTGTCTGACCAAAATTTATTAGGTGGGAATTTCCTCGTCCTAATAAGCCTGGGAGCGCTATGGGAGACTGGGGCTTATTTCATCCCTACAGTCTCGACCATAGAAGACAGCTACACCCAAGGGGGCCATTTTAGAGGCCCACCCTCAGGGGCACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAAGAATTCGGCGATATTTCTCCCATTTGCTTTTGAAAGAAGAGAAATATGGCTCTGTTCCGCCTGGCTCACCGGCGGTCAGAGTTTAAGGTTATCTCTCTTATTCCCTGAACATTGCTGTTATCCTGTTCTTTTTTCAAGGTGCCTAGATTTCATATTGTTTAAACACACATGCTCTACAATTTCTGCACTTAACACAATTATCACAGGGTCCTGAGGCGACATACGTCCTCCTCGGCTTACGAGATGACAGGATTAAGAGATTAAAACAGGCATAGGAAATCACAAGGGTATTGATTGGGGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATGTTTAGAGATTGCAGTAAAGACAGGCATAAGAAATTATAAAAGTATTAATTTGGGGAACTAATAAATGTCCATGAAATCTTCACGATCCACGTTCTTCCGCCATGGCTTCAGCCAGTCCCTCCGTTTGGGGTCCCTGACTTCCCGCAACAGACAACTTGAGTTGCATCAAACTAAAAAGCATCTGCACTGCAAAGGGTACAGTTAACAGAATGAAGACACGGGTTTTGAGAAACCATTTTCAAATCATATATCTGATAAGGGGCTAATATCCAAAATGTATTAAGAAACCCAAGCCCAATAGCAAGAAAACAACTGTCTTTAAAAGGGGGAAAAGGACCTCAACTTAAATTTTTCAGAGGAAGACATGAGTGGCCAATTGATTGATACATGAAAAAAATGCTCAACATCTCTAATCATTAGTGAGTTGCAAATCAAAACTGCAAGATATTACCTTACACCTTTTAGAATGGCTATTATTAAAAGGATGAAAGACAGGTGCTGGCAAGGATGTGGATAAAAGGAAGTCCCAACATTCTGTTAGTGGGAATATAAATTAGTATAGCCAATTTAGGAAACTATATGGTGGTTCCTTAAGAAACTAAAAGTACAATTACTATATGATCTAGCAATCTCTACTTAGGTATATATCCAAAGGAATTGAAGCAGTATGTTGAGATCTTGCACTCCCTTATTTTGAAATTATTTACAAAGCTAATAAATGGAAAAGACTTAAGTTTTCATAACAGATGAATGGACATAGAAGATGTGTTGTATATACATATTGGAATATTTTTTATCCTTGGAAAAGAAGGAAAATTGTCATTTGTGACAACATGGATGAATCTGTAGTATACTATGCTAAGTGTTGTAAGACAGGCACAGAGAGGCAAATACTACATTATATTTGTATGTGGAATCTAAGAAAGGCTAACTCATACAAGTAGAAAGTTGGATGTTATGGTTTCCAGGATGTGGGTGTTGGAGAGATGGGCAAAGGCAAGACGTTGGTCAAAGAGTACCAATTTTCTGTTAGGAGGAATAAGTTTTAGACATATTTCACAGCATGGTGACCATTGTCACTGACTGTATATTTTAAAATTGTTATAAGTAGATATTAAAGTTGTCACAACAAAAGTAGGTGAAGTTATGGATATGTTAATGTGCTTGATTTAGTTATTACACTATGTATACATACAAAAACATCAGATAGTTCCCTGGAATTATATACAATTATTACTTGTCAATTATAAAAAAAAGCCCTACTGCAACCACTAAAAAGGATTTTCATATAATAGAGGGAAAAATCGTTAAAGATAATAATACATTATTTTAGAAAATATTAACTTATAAAAAGTAGTATAGGAGGGATTCTGTAAAAGAAGATAGACATAGAATTTTAAAATGTATAATGGAAAATTTAAATCCAGCTGTACTGATGGATCAAGCAATCCAAACCAGTCTGATTGACCAAGTGGATATTTAAAAAACAATCAAACTATAAGGTGTCTGTTGTAGGCAGTTTATAAAATACAAAAGTGTTGAAAGAAATAGGATGGAAATAGAAATATCCAAGTAGCAACCACAAAAAAACTGGAATGTCTGCACTAACATCATACAAAACAAACCAAATGAAGGTTAAAAATATTGAAATTATACAAAATATGTTCTATGACTAAAATTTAATGAAATTAGAAATAACACAGAGATAGGAACTATACATATTTGTGCAAATTTAAAAAGTTATGCTGAGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGGGGAGGGTGGATCACTTGAAGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAATTAGCCAGATGTGGTGGTGTGCGCCTGTAGTCCCAGCTACTCGGGTGGCTGAGGCACTAGAATCACTTGAGCCTAGGAGGCAGAGGTGGCAGTGAGCCGAGATCACACCACTGCACTGCAGCCTGGGCGACAAAGACTGTCAAAAAAAAAAAAAAAAAAAAAAAGTTACGTAACCAACAAGTCAAAGGAGAATTTATAAGGAAATCAGAAAATACTTTGAGGTGAATGAAAATACAGAAACAACATATCAAATTCTGTGAGATGTGTGAAAGCAACGCTTACAGTGAAATTAATAGCTATGAACATTGTAATGAAATGAGAAGTACTTCAAATTACTAACCTAACTTTCCAACTTTAGAAAATACAGTAAAAAAAGAACAAATTAAAATCAAAGCAGAAAGGATATAAAGTTTAGTGTGGAAATAGAGAATTAAAAATAATTGAGAAACACAGCACTTCGTTGACTTATTCATAAAATAAAGCTTTATTAAAATGAGAAATGTAAAACGTGATGTTCCTAATGACCTTATTCCATACAAGGGATTAGTATTTTGACAAATATCTTTGTGGAAGTAGACAAATTCCTAGAAAGACACTGACTACCACAACTCATTCAAGAACAAAGTGAAGACAATAAATTGGTAATTTAAAAACTCTCACCCCTGCCCCTGACACACATGTAAATTCCCAGTTCAAATGTATTCTTTTGTATATTATACCAAACACATGAAAATTACCAATTCGATAAAAATGTCTTAAAAACTTGGAAGAGCATGTAATATTTTTTACTGGTTCTATGATGCTATTGTTATCTAGATACCAAAGTGAAACATCATACACAGGGAAAACTCTGATAATATCGCTTATGAGTGGATCTGTGAAATTTCCTAGTAAATTTTGGCAAACCAAATACAGTAACATATAAACAGGAATGTACACCAGTACCCAGTACAGTGTATCCCTGGAATGCAACGTTATTTCATCAGCTGGAAATGATTAGTGCAACAGACTGAAGGAAGAAAACAACATGGTCATCTCAATAGATTGTGGACGGCTGGAAGTGGAGGCTCACGCCTGTAATCCTAATACTCCTACCAACAGTGTATAAGCATTCCTTTTTCTCTGTAACTTCACCAGAATCTGTTTTTTTGTTTGTTTGTTTGTTTGTTTTTGACTTTGTAATAGCCATGGGCTGGGCTCAGTGACTCACGCCTGTAATCCTAGCACTGGGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACTAAAATTACCTGTGCATGGTGGCAAGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGTAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCGGAGATTGTGCCACTGCACTTGGACCTGGCTGACACAGCAAGACTATGTTTAAAAAAAAAGAGAGAGAAAAAAAAAATAGAAGGTGGAAAAAGTATTTGGTAAACTAAGAAGTAAACCACAACCTAGTAAAGGGCATATTTTAAGAATTCACAACTAGAACCTGGTGCCGTGGCTGTAATCCCAGCACTTGGGGAAGCCAAAGCAGGATTACTTGAGGCCAGAAGTCTGAGATCAGCCTAGGCAATATAAGGATACTCTGTATCTTAAAAAAAAAAAAAAAATCCAGATGTGATGACACATGCCTGTACGCCTAGCTACTTGGGAAGCTGAGGTTCATGTTTACAATGAGCTATGATGATGCCACTGTACTCCTGACTGAACAACAGAGTGAGACCCTGTCTCTAAAAAGCAAAACAAAACAGAAAACCCAAAACCCTCAAAACTAATGTTACACTTAGTATTTAAAGAATGCTTTCTCTGTAAGAAGAGGAGCAAGGACAGGATAAAACATTCTTGCCAGTTCTGTTCAACAGTGTACTGGAAGTATCTGTGACATTAATTGCATTGCATATGGAAGGAAATAAAATTTTTTAAATAGGAAGCAGCAAAACCTTTTGCAGATGACATGGTTTTGTACATACACAACCCCAGTGGATCCAATAAATTTGGATTCCAATAACAAGATCATCTCAGCAAGTTTTTGTGATTTAAGATTACAATCCAAAAATCAGTTGTATTTCTATATATTATTAAAGAAGTCAAAAGTGACATCATTGAAACATTTTTATTTACAATATTATTAAGGCAAAATACTGTGGGATAAAGTGAAATTCAGCATGAACTGTGAATAACACAAAATATTTGTCAGAGGAGTTGAGGAATATCTACATATGTGGAAAGACATCTCATATTTGTGGACTAGAAGATTTAAGCATCGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTAG___GCTGGTCTCGAATTCCCGACCTCAGGTAATCTGCTCGCCTCTGCCTCCCAAAGTACTGGGATTATAGGTGTGAGCCACCATGCCCGGCCCTTTGTTTTCAAATCTCATATCCAACATTGGACTTATGGCTAGAATATTTACATAATTCTCAAAAGATAGTATTAAAAATCCAAAGCTTTAAATTAGAAAATGGGCAAAAGTCATGAAAGAACATTCCCCTGAGGATAGGGAAATGTCAATAAGGACATGATGGAAATTAATACTATGATGAGATATTACAGAAGATTTATTTTTCTTTGAGGCGGAGTCTGCCTCTGTCACCGAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGACCCACCTGCCTCAGCCTCCCAAAGTGCTGGAATTAAGAGGTGTGAGCCACCACACCTGGCCTACAGCAGATTTATTTCAGTAGCTGAAATAGTTAAAACATAATGATTCCAAAGGCTGAGAAGCATGCAGAAAAAATTGAATCTTTATTGCTGATGGGAATATAAAACTGTATACCACATTGGAAAATAATTTGGCAATTTCTTTTAAAGCTAAACACACACATACAGTTAGTTAGGCTTAGCAATTGCTGTCATGGCCTATTTCATAGAAATGAAAATTTATGTGTAGACCAAACCTGCACTTGACTGTTCACAGAAATTTTATTTGTAATAGTCAGAACCTGGAAACAACTCACATGTTATTCACCAGGTAAACAGTTAAATAAGTCTGTTATTTCCGTATTGTGTAATACAACTCAAAAATTAAAAGGAATAAACTACTACTATACAAATAAGCCTTAGATGATTCTCAATTCTGAAGGAAAAACCCATTTCAAGTTGTAACATAATGCTTATTTTTATGTATCTTAATGTGATGAAGTTAAATAGTTTAGAGAACATTGTTCGTATTCATCTGTTAGGGATGGTAGAAGTTAGGGTTGTATGTGATTATAAGACTAGTGGAAGGGATACGTTTTTAATGATGGATGAGTTCTGCATTCTGATTCATGCAGTGGTTACAAAAATGTATACATGTGATAAAATGTCATGTAAATGTGCACATTTCACCAATGACAATGTGCTGGTTGTGATATTGTACAATGTTAATGGAAAATATCACCACTGGGGAAAATTGAGTGGTATGTGTAAACGGTACTATATTTGCAGCATTTTGTGAGTCTTTATTTTAACATAATATGTAAATATGTAAAGCAACTAGAAGAATGGTTTTAATACAGGAGAGTAACAGCTTATAAGCAAGAGAAAGAAAAATGATAAATAATGTGAACACTTACCAAAGGAAGGGTGGAACAGAGAAATAAAGGACAGGGAAAATTATCTGGGATGATTCCTAAATTCCAATATTTGGATGGAACTATACAGAATTTTAATATATCTGGAAAATAAACTGAAAATATTAACGGATCCACAGATATTGAAGACTTAACCTTTTTTATCTCATTATTCATTAAAACAAGTGAAATGTTATAGGGAATTCTTCAAATTGAAAGAAGCAGCTCATGCATAACACAAAAACATGAATGTATAAAACTGACTGGTAAAAGGTAAGTAACTCAAATTCACAGTACTGGTATACTGTAATGGTGGTGTACAAATAACGTATATCTTTATTGTTAAGGTTAATACACAAAACTTTTTTAATGAGATGGCTGTTGCTATGTTGCTCAGGCTGGTCTGAAACTTCTGGGCTCAAGCAATTTTCCCCCCTCAGCCTTCTGATTAGACGGTATTATGGGCACCTGCCATGATGTCCATCTACAAAACTATTAATAATTACAACAATTTGTTTAGCCATATGTGATATAAATATATGTAAGGTGTGACATCAAGAACATAATGGGTCACCAAAATCTCAGAGTAAAAACACTCTGGTTTTACTCACCCCCATAGAACCTCAGTAATATATCCAGCACCAATATTATCACAAGTTATATCCCAGAACTGAAATCCGAGGCTGAGACATTTCCTCAGACTACAGAGAAGTGAAAAACTTGGAGCAGATGATAAAAGGCTTCTTCTGTATTTATGAGACTCCTATGTGCCTGCCATCATGTGTGGAAAATTTTATCGACATTCACCAGTTCAACATGGGATAAATGTGAGATTTTGGCACACAGCTTCTTCACCATCTTGGCTTCTCTTGTTGAAAAGCTGTTAATAGCTTAAAACATGGGAAGTA)$ . 01BR015 ENSG00000155974.12 ENSG00000258170.1 -/- -/- chr12:66406283 chr12:82482028 CDS/splice-site exon/splice-site duplication 1 1 0 24 5 medium out-of-frame . PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%)| . . ENSG00000155974.12 ENSG00000258170.1 ENST00000359742.8 ENST00000552532.1 upstream downstream . ^(GTGATTGTGAAGGGGGAGGAGGCTGTGGCAGGCAGGGGTGGTAGTAGTAGTGAATGACACAGATTTGCCAGATGACATGTAGCGGACCTCTGCATCAGCCAAGAGGAATTAAGCTTTGTCACTCCCCACTGGGACTACCTTTCTCCTGGTATGTGCGCAAGGAATTCATATGCTGCTGCTGCTGCAGCCACCAGAGCAGAGAGCCTTGAGTACACTTTGCCACAGAAAGCAGTGAGCAAGAATGATAGCTGTCTCTTTTAAATGCCGTTGTCAAATTCTGAGGCGACTTACTAAAG___ATGAGAGTCCCTACACTAAATCCGCCAGCCAGACAAAGCCGCCTGATGGAGCGTTGGCTGTGAGGAGACAGAGCATCCCAG___AGGAATTCAAGGGCTCCACAGTCGTCGAGCTGATGAAGAAGGAAGGCACTACCCTGGGTCTGACGGTATCGGGAGGAATTGATAAGGATGGCAAGCCAAGAGTATCTAATCTGCGGCAAGGAGGAATTGCTGCTAG___AAGTGACCAGCTGGATGTGGGTGACTACATCAAAGCAGTGAATGGAATCAACCTGGCCAAATTCCGCCATGACGAGATCATCAGCTTGCTGAAGAATGTGGGAGAAAGAGTGGTTCTTGAAGTAGAGTACGAGCTTCCACCGGTCT___CTGTGCAAGGATCAAGTGTTATTTTCCGAACAGTGGAGGTCACATTACATAAAGAAGGCAATACCTTTGGTTTTGTAATTCGAG___GGGGAGCACATGATGATAGAAATAAATCTCGTCCAGTTGTGATAACATGTGTTCGTCCTGGAGGGCCTGCTGACAG___AGAGGGCACGATCAAACCCGGTGACAGGTTGCTCAGTGTGGATGGAATTCGGCTTCTTGGAACTACGCATGCTGAAGCCATGAGTATTCTTAAACAATGTGGACAAGAAGCAGCACTGCTGATAGAATATGATGTCTCAGTAATGG___ACTCTGTGGCAACAGCATCCGGGCCACTACTAGTCGAAGTTGCCAAAACTCCTGGTGCCAGCCTTGGGGTTGCCCTAACTACCTCGATGTGCTGTAACAAACAAGTCATTGTCATAGACAAAATCAAATCTGCAAGTATTGCAGACAG___ATGTGGCGCATTGCATGTGGGAGATCACATCCTCTCCATCGATGGAACCAGCATGGAGTACTGTACACTTGCAGAAGCAACCCAGTTCCTGGCCAACACCACTGACCAGGTCAAGCTTGAGATCCTTCCCCATCATCAGACCCGGCTGGCCCTAAAGGGGCCCGACCATG___TGAAAATTCAGAGGAGCGACAGGCAACTTACCTGGGATTCCTGGGCCAGCAACCACAGCAGCCTTCACACCAACCATCACTATAACACGTACCACCCTGACCATTGCAGAGTACCAGCCCTGACATTCCCGAAAGCACCTCCTCCAAACAGCCCTC___CAGCTTTGGTGTCTTCATCCTTCTCTCCTACCTCCATGAGTGCATACAGCCTGAGTTCCCTGAACATGGGGACTCTACCTCGAAGCCTCTACTCCACCAGCCCACGTGGAACCATGATGAGGAGGAGACTGAAAAAGAAAGACTTCAAAAGCTCAT___TGTCCTTAGCCTCCAGCACAGTAGGATTGGCTGGGCAGGTTGTTCACACAGAAACCACAGAGGTTGTGCTGACGGCAGATCCTGTCACAGGATTTGGGATCCAACTGCAGGGCAGTGTGTTTGCCACAGAAACTCTCTCTTCTCCACCTCTGATTTCCTATATCGAAGCTGACAGCCCAGCAGAGAG___ATGTGGGGTGCTACAGATTGGAGACAGAGTGATGGCCATCAATGGAATTCCAACAGAAGACAGCACCTTCGAAGAAGCCAGTCAGCTCCTCCGAGACTCTTCAATCACGAGCAAGGTCACACTGGAAATCGAGTTTGATGTTGCAG___AGTCTGTCATCCCAAGTAGTGGAACATTTCATGTAAAGCTGCCTAAGAAGCACAATGTGGAACTTGGAATAACCATAAGTT___CACCATCCAGTAGAAAACCAGGAGACCCCCTCGTCATTTCAGATATCAAGAAAGGGAGTGTGGCACACAG___AACTGGGACCCTGGAACTTGGGGATAAATTGCTCGCAATAGATAATATCCGGCTGGACAA)CTGTTCCATGGAAGATGCAGTTCAGATCCTCCAGCAATGTGAAGACCTGGTGAAGCTCAAAATCCGCAAAGATGAAGATAATTCAG|GCTCTTTGAAGACAGTGGAATACTGTTTGTCTCCATACTGTCAATGCCCAGCGTAATCTCTGACA(AATG___AATTTCGCTCTTGTCGCCCAGGCTGGAGTGCAATGATGCGATCTCGGCTCACTGCAACCTTCGCCTCCTCGGTTCAAGTGATTCTCCTGCCTCAGACTCCCGAGTACCTGGGATTACAGGCATGTGCCAGCACGCCTGTATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCGTGCCCGGCCTGTTGTAATTTCCTTCTCTATACTAAAAGGTGTTTTATACATATAAAGTATTTTTCTTTATTATAATGAGAAATAAATCTTATAAAAATA)$ MIAVSFKCRCQILRRLTKDESPYTKSASQTKPPDGALAVRRQSIPEEFKGSTVVELMKKEGTTLGLTVSGGIDKDGKPRVSNLRQGGIAARSDQLDVGDYIKAVNGINLAKFRHDEIISLLKNVGERVVLEVEYELPPVSVQGSSVIFRTVEVTLHKEGNTFGFVIRGGAHDDRNKSRPVVITCVRPGGPADREGTIKPGDRLLSVDGIRLLGTTHAEAMSILKQCGQEAALLIEYDVSVMDSVATASGPLLVEVAKTPGASLGVALTTSMCCNKQVIVIDKIKSASIADRCGALHVGDHILSIDGTSMEYCTLAEATQFLANTTDQVKLEILPHHQTRLALKGPDHVKIQRSDRQLTWDSWASNHSSLHTNHHYNTYHPDHCRVPALTFPKAPPPNSPPALVSSSFSPTSMSAYSLSSLNMGTLPRSLYSTSPRGTMMRRRLKKKDFKSSLSLASSTVGLAGQVVHTETTEVVLTADPVTGFGIQLQGSVFATETLSSPPLISYIEADSPAERCGVLQIGDRVMAINGIPTEDSTFEEASQLLRDSSITSKVTLEIEFDVAESVIPSSGTFHVKLPKKHNVELGITISSPSSRKPGDPLVISDIKKGSVAHRTGTLELGDKLLAIDNIRLDNCSMEDAVQILQQCEDLVKLKIRKDEDNS|gslktveyclspycqcpa* 01BR015 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 1 1 0 61 13 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___)ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCAC(CAGTGTCAAG___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 01BR017 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 5 11 0 20 27 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismatches(2) TGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAG(TAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR017 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 2 9 1 31 17 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCT)CAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 01BR017 ENSG00000184588.18 ENSG00000184588.18(114650),ENSG00000118473.22(44154) +/+ ./+ chr1:66332620 chr1:66489229 CDS/splice-site intergenic deletion/read-through 10 2 0 155 22 high out-of-frame . . . . ENSG00000184588.18 . ENST00000371045.9 . downstream upstream mismappers(1) ^(AACCAGTTTTCACCCGAATTTTGACTGTTTCATTTAGAAGAAAAGCAAAATGAGAAAAAGCTTTCCTCATTTCTCCTTGAGATGGCAAAGCACTCAGAAATGACATCACATACCCTAAAGAACCCTGGGATGACTAAGGCAGAGAGAGTCTGAGAAAACTCTTTGGTGCTTCTGCCTTTAGTTTTAGGACACATTTATGCAGATGAGCTTATAAGAGACCGTTCCCTCCGCCTTCTTCCTCAGAGGAAGTTTCTTGGTAGATCACCGACACCTCATCCAGGCGGGGGGTTGGGGGGAAACTTGGCACCA)GCCATCCCAGGCAGAGCACCACTGTGATTTGTTCTCCTGGTGGAGAGAGCTGGAAGGAAGGAGCCAGCGTGCAAATAATGAAGGAGCACGGGGGCgCCTTCAGTAGCACCGGAATCAGCGGTGGTAGCGGTGACTCTGCTATGGACAGCCTGCAGCCGCTCCAGCCTAACTACATGCCTGTGTGTTTGTTTGCAGAAGAATCTTATCAAAAATTAGCAATGGAAACGCTGGAGGAATTAGACTGGTGTTTAGACCAGCTAGAGACCATACAGACCTACCGGTCTGTCAGTGAGATGGCTTCTAACAAG|AGAGAGGATTTCCTACCCATCCCTGTACCTAAACCCAGAAAAGAAGAAACAGGGCTGATTTTCCTGTTCTCCAGACTACTTGAAAGCTAATTTTCTCAGCTTCTTGAATCATATCTCTGACTAACATTTGGGCTAGTCATGAAGAGAAGAAAAGGAAGTGACAAAGAAGACGCTCTGGAATAAAC MKEHGGaFSSTGISGGSGDSAMDSLQPLQPNYMPVCLFAEESYQKLAMETLEELDWCLDQLETIQTYRSVSEMASNK|redflpipvpkprkeetgliflfsrlles* 01BR017 ENSG00000117139.18 ENSG00000117139.18 -/- -/+ chr1:202740674 chr1:202802906 CDS/splice-site intron inversion/5'-5' 5 4 0 160 36 high out-of-frame . ARID/BRIGHT_DNA_binding_domain(100%),C5HC2_zinc_finger(100%),JmjC_domain__hydroxylase(100%),PHD-finger(100%),PLU-1-like_protein(100%),jmjN_domain(100%)| . . ENSG00000117139.18 ENSG00000117139.18 ENST00000367265.9 . upstream upstream . ^(GTACAACTCGGACTTGCTGTTGCTCGAGCCGCGTCTGCACGGGTCTCGGACCGAGCGGAGCTCGCAGCCTCGGTCCCGGAGCCCACCTTCGCCTCGCCCTTGCCCAGCCTGCGGTGATGGAGGCGGCCACCACACTGCACCCAGGCCCGCGCCCGGCGCTGCCCCTCGGGGGCCCGGGCCCGCTGGGCGAGTTCCTGCCTCCACCCGAGTGCCCGGTCTTCGAACCCAGCTGGGAAGAGTTCGCGGACCCCTTCGCTTTCATCCACAAGATCCGGCCCATAGCCGAGCAGACTGGCATCTGTAAGGTGCGGCCGCCGCCG___GATTGGCAGCCACCATTTGCATGTGATGTTGATAAACTTCATTTTACGCCACGTATCCAGAGACTGAATGAATTGGAG___GCCCAAACTCGTGTAAAATTGAATTTCTTGGACCAGATTGCAAAGTACTGGGAGTTACAGGGAAGTACTCTGAAAATTCCACATGTGGAGAGGAAGATCTTGGACTTATTTCAGCTTAATAAG___TTAGTTGCAGAAGAAGGTGGATTTGCAGTTGTTTGCAAGGATAGAAAATGGACCAAAATTGCTACCAAGATGGGGTTTGCTCCTGGCAAAGCAGTGGGCTCACATATCAGAGGGCATTATGAACGAATTCTCAACCCCTACAACTTATTCCTGTCCGGAGACAGCCTAAGG___TGTTTGCAGAAGCCAAACCTGACCACAGACACTAAGGACAAGGAGTACAAACCCCATGATATTCCCCAGAGGCAGTCTGTGCAGCCTTCGGAAACGTGCCCCCCAGCCCGACGAGCAAAACGCATGAGAGCAGAG___GCCATGAATATTAAAATAGAACCCGAGGAGACAACGGAAGCCAGAACTCATAATCTGAGACGTCGAATGGGTTGTCCAACTCCAAAATGTGAAAATG___AGAAAGAAATGAAGAGTAGCATCAAGCAAGAACCTATTGAGAGGAAAGATTATATTGTAGAAAATGAGAAGGAAAAGCCCAAGAGTCGATCTAAAAAAGCCACCAATGCT___GTGGACCTGTATGTCTGTCTTTTATGTGGCAGTGGCAATGATGAAGACCGGCTACTGTTGTGTGATGGCTGTGATGACAGTTACCATACCTTTTGCTTGATCCCACCTCTCCATGATGTTCCCAAGGGAGACTGGAGGTGTCCTAAGTGTTTGGCTCAG___GAATGTAGTAAGCCACAAGAAGCATTTGGCTTTGAACAAGCAGCCAGGGACTATACCCTCCGTACTTTTGGGGAAATGGCAGATGCGTTCAAATCTGATTACTTCAACATGCCAGTCCAT___ATGGTCCCCACAGAGCTTGTTGAGAAAGAATTTTGGAGACTAGTAAGCACTATTGAGGAGGATGTCACAGTGGAATATGGAGCTGACATTGCCTCAAAGGAATTTGGCAGTGGCTTTCCTGTCCGAGATGGGAAAATCAAACTCTCACCTGAGGAAGAG___GAGTATCTTGATAGTGGCTGGAATTTGAACAACATGCCAGTGATGGAGCAGTCTGTCCTTGCACATATTACTGCTGATATATGTGGCATGAAACTTCCTTGGTTGTATGTGGGAATGTGCTTTTCTTCATTCTGTTGGCACATTGAAGACCACTGGAGCTATTCAATTAACTACTTGCACTG___GGGTGAGCCAAAAACCTGGTATGGAGTCCCAGGGTATGCTGCTGAGCAGCTAGAAAATGTAATGAAGAAACTAGCTCCAGAACTCTTTGTGTCCCAGCCGGATCTCCTCCATCAGCTTGTGACCATCATGAACCCCAATACCCTGATGACTCATGAAGTGCCT___GTTTACCGAACTAATCAGTGTGCTGGGGAGTTTGTGATTACATTTCCAAGAGCCTACCACAGTGGTTTTAACCAGGGTTTTAATTTTGCTGAGGCTGTTAACTTCTGCACTGTTGATTGG___CTGCCATTAGGCCGACAGTGTGTGGAGCATTATCGCTTGCTTCATCGATATTGTGTGTTTTCCCACGATGAGATGATCTGCAAGATGGCTTCCAAGGCTGATGTATTAGATGTTGTAGTGGCTTCAACTGTTCAGAAAGACATGGCCATTATGATTGAGGATGAGAAAGCTTTAAGAGAAACTGTCCGTAAATTG___GGAGTGATTGATTCGGAAAGAATGGATTTTGAGCTGTTGCCAGATGATGAACGTCAGTGTGTAAAATGCAAAACTACATGCTTCATGTCTGCCATCTCCTGTTCTTGTAAACCTGGCCTTCTTGTTTGCCTGCATCATGTAAAAGAATTGTGTTCCTGTCCTCCTTACAAATATAAATTGCG___GTATAGGTACACGCTGGATGATCTCTACCCTATGATGAATGCATTGAAGCTTCGAGCAGAATCTTACAACGAATGGGCCTTGAATGTGAATGAAGCTTTGGAGGCAAAGATCAACAAGAAGAAAA___GCCTTGTCAGCTTCAAGGCTTTAATTGAAGAATCTGAAATGAAGAAATTCCCAGACAATGATCTTTTGCGACACCTTCGCCTAGTCACACAGGATGCAGAGAAGTGTGCCTCTGTTGCGCAGCAGTTGCTTAATGGCAAAAGGCAAACTAG___ATATCGATCTGGTGGAGGGAAATCCCAAAATCAGTTGACAGTGAATGAGCTCCGGCAGTTTGTAACACAGCTGTATGCTCTTCCATGTGTCCTCAGTCAGACACCATTACTAAAG___GATCTCTTGAATCGTGTAGAAGATTTTCAACAGCATAGTCAGAAACTACTCTCTGAGGAAACGCCTAGTGCTGCGGAGCTGCAGGACTTGCTAGATGTCAGCTTTGAATTTGATGTTGAACTTCCACAGCTTGCTGAGATGCGTATCCGTTTGGAACAAGCCCGTTGGCTAGAAGAGGTGCAGCAAGCTTGCCTAGACCCCAGCTCCCTTACTTTAGATGATATGAGACGTCTCATAGACCTAGGGGTAGGGCTGGCCCCGTATTCAGCAGTGGAGAAAGCTATGGCCCGGCTGCA)GGAACTGCTCACAGTGTCAGAGCACTGGGACGACAAAGCCAAGAGTCTCCTCAAGGCCAG___GCCACGACATTCATTGAATAGCCTTGCTACGGCAGTAAAGGAAATCGAAGAGATCCCTGCATATCTGCCCAATGGTGCGGCTCTGAAAGACTCAGTGCAGAGAGCCAGAGACTGGCTTCAGGATGTAGAGGGCCTGCAG|TGTCTCAACAAAATAATTCAGGCCAGGTGCACTGGCCCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGAGAACTGCTTGAAGCCAGGAGTTCAAGACCAGCCTGGGCAACATACTGAGAAACCGCATCCCTACAATTTATTAGAGGCTGAGGAGG MEAATTLHPGPRPALPLGGPGPLGEFLPPPECPVFEPSWEEFADPFAFIHKIRPIAEQTGICKVRPPPDWQPPFACDVDKLHFTPRIQRLNELEAQTRVKLNFLDQIAKYWELQGSTLKIPHVERKILDLFQLNKLVAEEGGFAVVCKDRKWTKIATKMGFAPGKAVGSHIRGHYERILNPYNLFLSGDSLRCLQKPNLTTDTKDKEYKPHDIPQRQSVQPSETCPPARRAKRMRAEAMNIKIEPEETTEARTHNLRRRMGCPTPKCENEKEMKSSIKQEPIERKDYIVENEKEKPKSRSKKATNAVDLYVCLLCGSGNDEDRLLLCDGCDDSYHTFCLIPPLHDVPKGDWRCPKCLAQECSKPQEAFGFEQAARDYTLRTFGEMADAFKSDYFNMPVHMVPTELVEKEFWRLVSTIEEDVTVEYGADIASKEFGSGFPVRDGKIKLSPEEEEYLDSGWNLNNMPVMEQSVLAHITADICGMKLPWLYVGMCFSSFCWHIEDHWSYSINYLHWGEPKTWYGVPGYAAEQLENVMKKLAPELFVSQPDLLHQLVTIMNPNTLMTHEVPVYRTNQCAGEFVITFPRAYHSGFNQGFNFAEAVNFCTVDWLPLGRQCVEHYRLLHRYCVFSHDEMICKMASKADVLDVVVASTVQKDMAIMIEDEKALRETVRKLGVIDSERMDFELLPDDERQCVKCKTTCFMSAISCSCKPGLLVCLHHVKELCSCPPYKYKLRYRYTLDDLYPMMNALKLRAESYNEWALNVNEALEAKINKKKSLVSFKALIEESEMKKFPDNDLLRHLRLVTQDAEKCASVAQQLLNGKRQTRYRSGGGKSQNQLTVNELRQFVTQLYALPCVLSQTPLLKDLLNRVEDFQQHSQKLLSEETPSAAELQDLLDVSFEFDVELPQLAEMRIRLEQARWLEEVQQACLDPSSLTLDDMRRLIDLGVGLAPYSAVEKAMARLQELLTVSEHWDDKAKSLLKARPRHSLNSLATAVKEIEEIPAYLPNGAALKDSVQRARDWLQDVEGLQ|clnkiiqarctgpcl* 01BR017 ENSG00000116580.18 ENSG00000198952.8 -/- -/- chr1:155853276 chr1:156250996 CDS/splice-site CDS/splice-site duplication 3 5 0 32 100 high out-of-frame . . . . ENSG00000116580.18 ENSG00000198952.8 ENST00000615926.4 ENST00000361813.5 upstream downstream low_entropy(1) ^(CTCTCCCGGAGGGGACTCCTCCCACCGCCGAGTTTTCCCGAGAATGAGGCCGCGCCCACTGACGCGCTGTGGTTCCAAAACGAGAAAGTACTGAAGG___AATGGAACAAAAGTGGGACTTTTAAAATGTTGCCCTGTAAGAAGAGAAGAACTACAGTGACAGAGTCCCTACAGCATAAAGGCAATCAAGAGGAAAACAACGTAGACCTAGAATCAGCCGTTAAACCAGAATCTGACCAGGTTAAGGACTTGAGTTCGGTGTCACTATCCTGGGATCCAAGTCATGGCAGAGTAGCTGGCTTCGAAGTACAGTCTTTGCAGGATGCAGGAAATCAGCTTGGTATGGAGGATACATCTCTGAGCTCTGGAATGCTCACCCAGAACACAAATGTACCAATTCTAGAAGGTGTTGATGTGGCCATCTCTCAGGGAATCAC)CCTACCTTCCTTGGAGTCTTTTCACCCCCTTAATATACACATTGGTAAAGGAAAACTCCACGCTACTGGCTCAAAGAGAGGGAAAAAAATGACACTCAGGCCTGGGCCAGTTACCCAAGAAGACAGATGTGATCATCTTACCCTAAAGGAGCCTTTTTCAGGAGAGCCTAGTGAAGAAGTCAAGGAAGAAGGAG|GACTCTCTATAAGATCCTAGACAGCTGCAAACAGCTGACTCTGGCCCAGGGGGCAGGTGAGGAGGATCCGAGTGGCATGGTGACCATCATCACAGGCCTTCCACTGGACAACCCCAGCGTGCTTTCAGGCCCCATGCAG___GCAGCCCTGCAGGCCGCTGCCCACGCCAGTGTGGACATCAAGAATGTTCTGGACTTCTAC(AAGCAGTGGAAGGAAATTGGTTGATACTGACCCCCAGGCCCTGCAGTGGGGCTGACTCCAGATCTCTCCTGCCCTCCCTGGCAGCCAGGACCAGCACCTGTAGTCACCCCACCACACGCAGACTCATGCACGCACACAGGAGGGAGGCCTAGCTGCTCAGAGGCTGCAGGGAGGGCCCAGGAGCCGGCTGGGAGGGTGGGGTCCCTTTGTTGCCAAGACGTTAGGAAAGCGAGGAAAGTGCTTGGATTAGGAGAGTCTTGTGGGCCCCTGGCCAGCCTTCCTGCCTCAGCTCCCCTGCTGTCTCCAGGGGCAGGTGGTAGGCATGGGTACCTGCATTTCACTGGAATGGGTTCTTGGATCTCTGAGGGGAAGGAACAGCAAAAGAGGCCCTTCTTCCTCACCCAAGATGCAGGGTGGTTGGGGCCAGGAGTTTGGACCCTCTAGGTCTTGGGGGAAGAGCTGGGTAATACCTGGTGTCTGAGTGATTCTCTGCAGACCCTTCCCCTCCTCAAGGATCACCCATCCTCCTTTCAGCCCCCTTTATGGGGACCAGGCAGCTCTGGAGCCAGCCACAGGGGCTGTTAGAGAAGCAAGGCCTGGAGTGGCCTGCACCGAGTAGCAGGGTCAGGGTTCGTGTGCTCCTCCTCCTGCTGCAGGGGCTGCACATCCCATTGCCCCACTTCTGCTTTGTGTCTCCCTCTGTCTAGCTTCCAGGGCAGGGAGCAGGCCCCACCTAGGGCTGCAGGCAGTCTGGCCTGTGCCAGCACGGTCTCCTGTGCCCACCAGCCCCACAGGTGCTGTGCTTTGTGCTCTTGGCTGCTGTGCTGGGACAGAATGGGATGCCAGGAAGAGAAGAAAGGGGGTGCAGTCTGAGGCCACCACCCCCCTTCCTATCTAAGGGAGGGCTGAAGACAAGGGGCCGGCATTCAGTGGGCAGCAGAAAGGAGAGGCTCCTTGAAGCTGCTCAGTCAGAGGCCCCCGTCCCTCCTTTTGCCTTCCGCAGGACTGAAGACCTGAAGGGGCTGGCTTTTGGAGTGTTGAGGTGAATATCTGGGAGCAGAGATCATGAATAGCTCAGGGCAGTGAATGGCGCACCAAGAGCAGGGCTGTGTGTGGGAGGCTGCAGCCAGGATTGCCTCAGCTCCTCCCCCTCAGGCTGGGAGGATAGCACAGGCTAGGGGCTCGGGGTGGAGGGTCTCAGCTCTGCTGCCCCCACCCCAGTACTAGCCTAGCTTCCCAAGCTGTGGCTTAGAGGATAGTTGGCTTCCTGCCTCTCTCCTCTAAAATAGCAAGTCTGGGAAATCCTGGGGTGAGTGGAGTCACCCCACTCCCAGTTGCTGGCAGAGACTGAGACTAAAGCATCACTTAATAAACCCCCCAAGCCCAA)$ MLPCKKRRTTVTESLQHKGNQEENNVDLESAVKPESDQVKDLSSVSLSWDPSHGRVAGFEVQSLQDAGNQLGMEDTSLSSGMLTQNTNVPILEGVDVAISQGITLPSLESFHPLNIHIGKGKLHATGSKRGKKMTLRPGPVTQEDRCDHLTLKEPFSGEPSEEVKEEG|glsirs* 01BR017 ENSG00000259517.3(5711),ENSG00000177508.12(6714) ENSG00000140718.21 ./+ +/+ chr16:54276590 chr16:54111762 intergenic CDS/splice-site duplication 6 1 0 13 48 high . . |FTO_C-terminal_domain(100%) . . . ENSG00000140718.21 . ENST00000471389.6 downstream upstream . GACTGTATACCTGCCACCTGAAGGAGTCTAAGAGAAGATCAGCACTGGGACAGAAGCCGAAATGAAAAAAGAAG___GAGGGAGCCAAGCTCAAAGAGGTGCAGTTGGTACCCCAAGGTCCCACAGTTAGAGAGTGATGGAGCTGGATTTGAACAAAGGCAGTCTGATTCCGGGGCCCATCTTCTGGAGCACCACACCTGAGGTGCATGTTCCTACACAGGTGCTTT|GTGCCAGTCACGAATTGCCCGAACATTACCTGCTGATCAGAAGCCAGAATGTCGGCCATACTGGGAAAAGGATGATGCTTCGATGCCTCTGCCGTTT(GACCTCACAGACATCGTTTCAGAACTCAGAGGTCAGCTTCTGGAAGCAAAACCCTAGAAGGAGCACAAGTCTCAGGCGGAGGAGAAAAAGAGATCGGCTTTTCTCCTCCAACGTTGTCATGGGCTTAAGCAAGAGCAGTGGAGACTTCTCTTGGCCCCTAGATTGTAGCACCCGGGTCCCAATCCAAAACAGCTAGGAAATGGTGCCCATGAAGTTTTAAATGTTTTAAAATGACCCTGTGTTATAGTCTGATTTGGTGTTAAACAGGACCTTCTTCCCCCAAAATTGTTCAGATTATAAAATGTGAGCCATTCAGCCCCCAAGGTCCAGGGCAGGCGACAGGAACGAGCCCAGCGTGTGACAAAGCCTAACCTACTTTCCTCTTTCCCAAGCTTTTTCAGAGACTCTGGAGTGGACCCAGCCCTCTGGGGAAAGACAGAACTTAGAGACATCCCAGTTACTCACCACACCCATAGTGCTGTCCAATATGGTAGCCACTAGCTAGCTGTGGCTACTTCAATTTAAATTCAGTTTTAATTTTAATTAAAAATGCAGCTCTTCAGTCGCCCTGGCCACATTTCAAGTGCTTAACAGCCTCATGTGGCTAGTGACTGCTGTATTGGACGGTACAGATATGGAACATTTTCATCATCGAAGAAAGTCCTATTGGACAACACTTCTATAAAAAGTTTGAGAGCAGGAATTCTCATTTCCATTCGTCTGTAGCTTCTATCCCCAAAGGCAAAGAAACTAAAAGAGAAATGACTCATTGAAGATTGGCCTCTTTCCTTTCTCTAAGACAAACCTAAGTAAAAGCCTGAGCTTTGAGTCCTATGCTCAGCACACGGGAAGGAGATGTTAATAATTAAAATAAAGTTGATATCCTGTCTTTAGGGAGTTCCCTTGATCTCTTGAAAGAGACACAGCCCCATTTACATTATTTCGTGGATTTCACCAGCATAGTATAGTTTTTTTCTGTAAGTCCCTCATTCTTATGTAATAACAGGTGGAACTGAGGTTTGAAGAACCTCAGTGGCCCATCCTGATGACATTGGAGACTCAAAGAGACAAGAGAGAGTAGGGTTTAAAACCTGAGCTTTAAGACTCCCACTAGCTTCGTGTCCTTTGGCATGTTAACGTGCCTCAGTTTCCTCATCTGTATAATGGGGATATATGAAAGGCACCAGTCCTAAGGTGAACATTAAGTGAGATGATTCTAGTTACAGACTTAGAACAATTTCCAGCACATAGTTAAATATCCAGGAAATTCTGGTACTGTTATGTGTGGGTGAGCTGACCTGGATGTAGATGTTTTCCTCTCTCTTGCTGACCCCTCCGCCAGTTTTGTCTTGTGATGCCATTAACACATCTCTCCCTTTCTGACCTGGCTCCTGCCCATTGGTGTCCCAAGAAATCGTGAGAATAGTTAGCCCCCCGTCTCCCCAGCCTGTTGCTTTCTCGTGTAGTTGTTCACAGTAGTTGAGAAGTTGAAGAGCTTTTGCCTATTGAAGGTGCACTGAGAATAAACTCTTTCCTGCCACCAGAATTGCAGTGGTTCACGGCCTGCACTCATTCCCATGAATGCAGTTAATAGCCACAGAAATGTCACATTAAGCAAAGCAGCCAGGGTCTCATCGTGTTGAGACTCGAGTCTCTCAGACCTTGGATTCATTCCCTGGTGTCTTTGAGCCTCAGTTTCCTCATTGGTAAAAGAGAAGTGAAGCAGTGTCTCACAGGGTCATTACAGAGATTAAATGAAATAAATGAAATAACATAGACCAGGAGGGCGTGGTGTTTAAAAGTCACAGATGGGGCACCCTCGGGCCATCCAGCCCAGTGTTTTCTTTAGCCCCTATGATGTTCATTTTTTGTTATATCCCATTAGGTGCCCATATTTAAAAATTGGGAGATTTCACATAAAATTAAAAGGTCTGCATTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACACAGTCTCACTCTGTCACCAGGCTAGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCACCACATTGGCCAGGATGGTCTCGATCTCAACCTCGTGATCCACCCACCTCGGTCTCCCAAAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCAAGCCAAGGTCTGCATTTTTCTTTAGAACTCAGAACACCCAATAGTCCTAGGCCCCCATCCTCGCATGGCAGCAAGCTAAATAAGCATCTTCCCACTGCGAGTTGGGGCATGACCCAGCCTATGGTTTGCCATACTCCCTCTTTTTCTCCGTTTTTTCATTAATTGTGAACCTGACCTGCATCACCCTTTCATGTCAGTGCTCTCCAAACCTGCTTGCTTGCACCCCTCTAGTCGAAATATTTTGTGCTTACCCCAATATATGTGTGTGACTATTGAACTCTATTCGTAGACTGCTTGTACTAATGTCATTTGCATCATAAAATATTCATATCCAATAAACATATTAAAAGGATGAGATAAGAAACCGAGAGATTTTGCTGTTTTTTTCCTTTTGCATGGATGAGCCAGCTTCACTGTCCTGGGTGGGGCCCAGGTGGAATTAGTTCTCAAAGTCCTCCAGGTGGAGTCAGGGAATGTGCAACAGGGTTGGAGAAATCACTACTTTAAGTGAATCCGAAAGGTGAGATCACATTTGCTCTAAAGAAATGGTGATCCCAGCACTTTGGGAGGCTGAGGCAGCAGATCACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTGAAAACACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGCAAATCGCTTGGCCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCCACGGAGCGAGAGAAGAAAGAAATGGTGACTTTCATTGATCATGTGTTTGAGGATTTCATGTGCTCTCCAGGGAGGTTTCAGGTGGGTAGAAGGAGGTGGGCAAGACCCAATAAAAAAGCAGCTGGTGCGGGCAATGACAATGAACTCGTATCCTGCAGGGTCAAAGGAAGGCTTGCTTCTGCTGTGAATTGGAGAAGGACTTTCCTGGAAGCACAGGCCCAGAAATCGCACCCTTCTCCCCATGTGTGCGGATAAGGGACCACTTCCATCAGCAGCAGCCCCCTCCTGCTTTCCTGCCAGTCCTCCCTGTGGTCCCAGGTCTCTTGAGAAAAGTGATCTAAGAGATCCCTTTGCAATGAGGTGCTACTGACTGCCCTACCTCCCTCCCTTCCTCCCATGAATGTTTCTTGGTGCTGACCACAGCCTCAGCAATGAGGCAAGCCTGGGGACCCAAGACAGATCTCTGCCTCCCAGGCTAGTGGATGCCCTGGGATATGTAGTCACCAAAATAGGAACTTACCCCATAGTGGGGAAATAGACAGTAAGCAGCAAATCAATAACAAGAGTGTTCCAGATGGTTGTAAGTGCCAGGAAGGGAACCAACTGGGAGAGGGACAAGAGGAGATGGTGACTGACCAAGGGGACCTTGATCAGGCTGTGGGGAAGGGAGGTGGTTGGGAAGAGCTTCCCAGGAAAGGGGACGGCGGGCCCAGGCAGGAGAGCCTTGGGAGGGGGTGCCCAAGGAAGGAAAAGGGCCCTGAGCCTGAAGCCGAGAAGACCAGGAGGGGAGAAGGGGAGATGTAGGGCAGAGCAGACGGGAGCCGCTCGGGTTTTATTCCACACACCCCAGGAAGCATGAGAGGGTTTCAAGCAGCAAGGGCATGGAAGTAACTTGGTGAGATATTTTTATGCATTAGATCATCGCTCTATCTGGATTCCAGAGGGTCTCTGAGAGAGCAAACAGCTTAATCCAAAGGAGCGGCTTTCCAACTGGGAATGTCCCCCTGGCTGGGTGAGATCTCAAGATGGCCTGCGGCCCCTCTAGATTGCCTGCCTACAGAGTTCACTCTAAACAGCCCCTCCCCTCCACACCCCAGCAGATCCATTCCTGACGCCCTCACTGGCAGGCTCCAGCCCCACAGAGCTTTCTAGACATAAAAGAGCAGGGTCATGGCATCATTGGTGACACAATTTTAGTAATAAGCTTCAAAACCCATCACTCCACTGAATCCAGGGATGCCAGAATTGAGAGTCCATAGGACCCGTTTAACGGATCCCACATTCAGTAGACGGTTTTTTGTATGCTTCGAGGGAAGGAAGGTATTTTCAAATGCAACTTCTTTTTTTTTTTTCTTGCTCTAGTTAGGGCTGATTTTACCACTGGGCAAATTGCATACATTTGGATCCATGCCACGCTAAAAACTGTTTATTTTGGAGATCTGTCAGAGGCAAGCACATGGAAGACAAGGGGATTCTGGTTTGAAAAGGCAATTCTCATCCAGACAGATTCAGATGGAGAGGAGCGGTGTGGATTAAAATGCGCCGAAGTGGTAATGCCGTTTATCCCGTTTGCCTTTGTTACTCTGTGATTAAATGGTATTTTTAATTAAGTTTCATTGGGAGCCATAGGTATCGCGGTGGTGAAATCAATTTGACAACCATAAAGGGGAGAGACGGCACAGGCGTGTTGTGATGATTGCGGCTGTAGGGAAAGCCGGGCAGCTTGCAGAGGATGGGTGGGAGGAGGGGAAGCCGGCTAAGAATGACTTCCTGCAAGACAGCAAGGGCACCCCTGGGCCACTGCTGTGTTTGGGAGGCAGGTTTTGGGGGTTGTCAGAAGGCATTCACCTGGTTCTCTCGCTCACCTGAGACACCCGATAGATTCCTGGAAACTCCAGGAAAGTATCTGAAGATCTGGTTCTCCATTCTCTCTTATTAACAAGGAGAACCACAAGTGCCCCCCAGATCCCGGCTAGAAGGACCAGACAGCTTTCCACCCCGGTTCCCAGGCAGCCCTGCTCCCATAGTCCTGTGTCCCATCGGCCCCATGCTCCCAGGACAGTCCTAATTCCCACCTCTCAGAACCTTGTCAGCCAAGTTCTTCCTGCTCTCTGGCCCAAATCCTCCTCCTACATTGGAAACTGAGCCTCTCTGCATCCTCTGCTCTTTCTATCCCGCTGTCATTCATCAGATTTTCCAAATCTTTGGATTCCTGAGTGGCAGAAGAGGTTTTCTGAGTTTAAGTTCTGATTCTGTGTGTGATTCTCACTCTACCACCTCTTCAAACCTTTGTTGTCTTATCTACAAAATAGAATAGTAGTAATCCATCACCTAAGGTTGTTGTGAAGGTTCAATAAGTTAATGCGTATTTAAAATGCCTCCCACAGTACCTGACATATACTGGGCTTCAGTGAGGTACTAGCTATTATTATTAACCAAGTTTCCTGTGGTAACAGTTGTAGCTTTGTGACTGGGCCAAATCACTTAACCCCTCTGCGCTCCAGTCTTTGTTTCTATAATGGGGATGATGATAATGCCTAGCTCATTGGATTGTTCTGTCCCCTACGATCAGCCATGTTAAGTGATTCATATCATGTCTGGTACTTAAAAATCACGCCACGCATGTACATTATTATGATGAAAAATATGATCCGTGATATCCTGACCAAAATATTAAAGGGACTAAAGATAGCTGTGGCTTGTTCAAGAAGAATATTGTGTCACTATCCCATATATTATCCCATTTGCTCTTCACAGCTTCCATTTTTCGCTAGGCGGATGGCATGGAACTTTTTATAAATGAGATATTATGAAAAATGATGTTTTAGGACTCTCATTTCTACAGTGGGAGTAGGTCACCCATTGCAATTTTGGATTTGCTTAAAAAAATTCTTGCCATCACCTTCTAATGGATGATCTGTGTACAACAATTGTTTATTGACTCTGAATGTCTAAGTACCAGGGTCAGTCTATTTCAAGGGGAGGGAAGCATTAATTAACCTCCAGCATTAGATTCAGTGATTCTTTTCCAATGATGCAGTTCATGACTTTGCTCGCATTTACTTTTCATCAATCCTGAAAGAATTGAGGTAAAATAGTTCCTCTGCACATGTGTGTCAAGCTAAATGGATAACAGCAGATACAGATCTGTTTGCCTGTCTGCACTTGCCTTTAGACAAAATTCATCAATTTTACAAAAGCCACTGACTAAACATGGCACCAATACAAATGAAGCACTTCTAGCAGGCGGAGATTCCCTTTGTTTCTGATCTGGTAAATGCGGTAGTTTCCTGCTGAGAGATGGGAAGTGCTGGCCTAGGACAGCAAGGTGCCCTACAGGTGGGGCCAAAAGGGTCAAGACCGTTCTACAGGAAGTTTAGGAGAAGTTCAATGGTTCCAGATCCTGTGTGCTTCGGGTAATTCTGACCCTCTTCATTAGTGATAATGGCATGAAGCTCTTTCACACAGTCTTTTTTTTTTTTCTTTTTTTTTTTCAGACAGGGTCTCACCCTGTCACGTAGGCTGGAGTGCAGTGGTGAGATCACGGCTCACTGCAGCCTCGACTTCATGGGCTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGTCGGGATCATAGGCACTTGCCACCACATCCGGCTAATTTTTTTGTAGAGACAGGATTTCACCACATTACACAGGCTGGTTTCAAACTCCGAGGCTCAAGTGATCTGCCTGCATCGGCCTCCCAAAGCGCTGAGATTACAAGCGTGAGCCACTACGCCTTGCCCTCCACACAGCCTTGCTTGGTGTTAAAGATTAAACAAAGACCACAGGTGATCACTGTCTTCGTGGTGCCAGTTTCAAGGGCACCCTTCTTCCCTTCCCAGCCTCCGAGAGAAGGAGAGAGGGTCCACAAGCCAGATCCATCCCCATCCACACAGGTAAAACCACGACTGTGCAGCTAGCAGGTGGAGATAACATTTGGAAAAAGGCTTTGTAAATGCTAAAGTCCTACTCAAGTCCAAGGGAGAGAAATTATTATTATTCGTTTTGTGAAACCAATTTAGTTTGGCTGGGTAATGGAAGAATTTCTACATACATTCATTACTTCTGATCAGGCAAGACCAGTCTGACACAGGAACAGTCTATGGCTCACTCTTAAAGCCACAGCAGGCTGCCAGGGCTTGGAGAAATAGAAACCTCTCTTGCACAAGAATAGTCTCAATGAATCATGTTAAGGCCTCTTTAGGTTTTTCAGACTCCATGCACCCTGTGGAAACTGCCTTTCTTGAGTAGAGGTACGTTCAGCACTTCATAAAATAATCTTGGAGCCTCCAGACACACGGATGGAGGAGCATGATTTCATTTGTTTCTTTGCAAAACTGCTGTCCCCAACTGAAAAACCTGATTATCCTTTCAAATAGGGAATTCGGCTTTCCACGTTGGAACCAGAACAGTTAACCTTCAAACCCCCAAGGCTTGCAAGAGATGAATCAGTTTCTCAGACAGCCAAAGCCGTGGCTTATAACTCATCCAACCCAGAAAACTGGACCGCTGGTCACCTTCCTTCCCCCTGCCCCCAACTCTGCAGACAGAGGTTTCCCGTTGATTATGCCTTGATTAGAGTCAGGAGAGAAGCAAACCAGGTATATAGGATTCCATTATCCTTCCCTCCTCTGCTCCCAACCAGGGTCACGCTGAGAGGGATCTCGGTGAACATGTGAACAATCAAGCCATGTTTACCATGGACGTTTAGTTTTCTTTTCTCAAAATCAAAACAGAGTTTAGTAGGCAGCGTATTTCATACATGCCCCTTGATCAATGGAATGATCTGTCAGAAGCCATTAAAGCCCCCATTAGCTTGAATGCATTCAAAGCTAAACTATTGGATCATTTAAGGGCTGCAGTGATTGTTTTTAATATACCGTACATTGATTTCTCCCTGTGAGCAGCAACATAAGTTTGAAACTAACTGTGTATGACTAAGGCTCCATTTGCTGTCTCCAACCCTCTGTGAGAAGCATGGTTTCACTTCGACCAGAAATGTCTGTGTATAGTTTTCAAAGAGATGCAGACCCTGTTCGATTTCCCAAGATTTAGACTGGGTCGGGTTGTTATTTCTTTTTTCCCTGAGCTTTCTCCCATTTCTTTGTGCCCATTAAGTGAGCTGTGCGTGCAGAATGGGAGAGGCATCCCTGCCAAGGACTTCAAGTGAAAGGCGGTGGGAGAAATTGTTCTGAAAGCATGAAGCCCAGCTGAGGCCAAAATCAAAGTGAATTTGACAGCCTTGGGCCAGCAAAACTCTGTACCCAGCAGAAAACAATAGATGTGTGGCTGTGTCAGGGGCATCCTCACTGGGACATAGCTTGGGGAGCTGAAGGTACCTTGGAAGGGCCAGATGAGGAAGCTAGCCAAGGCCACAGGCCTTCCTTTGACTGCCATATTGCCAGCTCTTCATAGTATTGACTCTTCAGTCTTAGCCAACACACACTTGTTGATTCCTTCCGGAATGTCAGACTCTGCTAGCAACACAAGGTCCCTGTCCTCAAAATCCTATTCTTAATCAGCATTTCTAATTTCTGCCCTTTGCTCATTTTAATACAGAGCCTGAGGATAGGAGAGCAGCGTGGTGAAAGAAGCAATAGTTACCACATTTGCAAAGGCACATACCCCAAAGAGAAGTTTTTAATATGTCACACCCATATTTTATAGATGGGGCAATGGAAGTCCAGATGGGAGAAGTTATTTCAGGTGAATTATAGAAACTGGATTTCAAGTTTCTGATAAGTATTGAATTTGGGAAGGCTGTGAACATTCTTGAGCCCCCCTCCCAAGTTCACCTTCAACATCCTAAAGCAGGTTGAAGAGGAAGATGGTTCCAGGTCACTTACAAGAACAGGAACAGCCCCTCCCTCCAAATTTGAGCCCAGAAAGGAGAACCTTTGTTACTCTAGAAAACAGTGTGTGTGCTATTGTTTTCTCCATAGGTCACAAACATCCACAAGATATTGGTGATTTTACATATTATTAGAGCCACTGAAATTTATGATGCAGGATATTAACGTCAAAGAGGCCAAGATGCATCATTCAGAACACTGGCAGGTCAAGCAGAAACCACCGTAGTAAAATTGAAAGCTGGAGTCAGCAAAGTATAGCCCACAGCCAAATCTGGCCCATCCCCTGTTCTTATAAAGTTTTATTGGAACGCAGCCATGCTCATCGGTTTATGTATTATCTATGGCTGTTTCCAACTACAGTGGCAGAGCTGAATAGTTGCAAAGGACCATAGGGCTATCAAAGCCCCAAATAGTCATTGTCTGACCCTTCATAGAAAAATTTTGCTGAACTGTAGTCTAGCTCCAAGGATTGTTGTATCACCTGTGATCGTGCCTATTAAGCAATTAACGTCATGTCTAGTACTTAGTAATGACTCAGCATGTATCAATTACGATGATAAATATTATCATGGCATCCAAACCAAAATACTCATGCCAACATCTCTCTGTACAGAAACATGGAAAAAGAGCGATGCTATTAAGGAGGAAAATGGAGCCAGGAGCAAAACCTAAGGCTATTTCTGAACTAAAGAGGCCTGAATAAGGTAGTGAAAGGACCAGGGAAAGCCTTCCCACGGGGATGGAGAGCCACCTCCTCCCCGGCTTTCTGGTTCAGATGTCTTGTCTCAACAGACGGCAGATTCGCAGGGAAGCAGGCCGAGCCTGATCTTTTCTCCGCTAGAACTGCTCAACAGGTGAAGAATCTTTTTCCAGCACTCCTGAGCCCTTCGGGTCGCGGAACAGTGCGAAGATTATTCCAATGCCTCATTCGGAGAGGTGATAATCTGGTCTGTGGTTTCTTTTTCGGTGGGGCATGGGGTGGGGGTGAGTGTCATGCTTTCTAAGGCACAGGGCTGACTAAAGGGTGTCCTATTTATAAGTCAGTAAAACACAGCGGCTTCATACTCTGTGCTTATTACCCAGAAGCCCCGGCTCTTAGAGTTTCTATTAAGATGTACCTCATAAATATATACGCCTCCTATGTACCCACAAAAATTAAAAATAAAAAAATTGAAATCA)$ . 01BR017 ENSG00000152104.12 ENSG00000117724.13(168251),ENSG00000185221.6(37912) -/- ./- chr1:214551183 chr1:214832822 5'UTR/splice-site intergenic duplication 3 2 0 19 3 high . . . . . ENSG00000152104.12 . ENST00000366956.10 . upstream downstream . ^(CTTTCCAACTTTTTCTCGGCGGAGTGAGCGCAGCGGGCGCAGACTCGGGGGCAGGTTGCTGTGCTTCTCCGGGCTCAGCCGCCTGCTCTCCTGGCTCAGGTCCTCGGGGAGCCCTAGACAGACATCAAGTGGCCACTGGCGCTCCTTCCCCTCCCAGCTGAGCCATCCTCCCCGGCCTCCTCGGGCGGGACAGCCCCGTGCTTAGGTTTTT)CTCCTTTTCTCCCCCGGTGCGCCTCTGCTCGGACTCTCGCGCCGGGATCGCGGCGGAAACCTCCCTtCCCTTTCGCCTCCTGCGGCTCCTTCCCTTCGCCCCTCCTCCGCCAGTCACTGGAATCAATTCCGTGGGGAATCGGCTCCGCCGCCGCGAAGGACAGCCTTTCCGCGCGGGACTCCGGGGCGCCACGGGGGCCATGTAAGCAG|GTGTCATCAAATGAAGATGAGGTCATGCTGGATGATGGTGGGCCCTCAATCCAATATGAGTAGTGTTCATTAAAGAAGAAAAAAAATTGGACCTAAAGATACAGAAAAACAGGAAGAAGACCAC . 01BR017 ENSG00000158106.14 ENSG00000181638.20 +/+ +/+ chr8:143380783 chr8:143259775 CDS/splice-site 3'UTR/splice-site duplication 1 4 0 72 49 high out-of-frame . BRO1-like_domain(100%),Hr1_repeat(100%)| . . ENSG00000158106.14 ENSG00000181638.20 ENST00000289013.11 ENST00000330701.7 downstream upstream . ^(ACTCAGGAGCCCGCGGCCCAGGTGGTGCGGGCGGCCCTAGCCCGGCTGCGGAGCGCTGCGCGAGCGGCGGGCTGGCTGACCCCGAGGGACCCCCAGCGCAGCGGGTGCGGCGATGATCCTGGAGGAGAGGCCGGACGGCGCGGGCGCCGGCGAGGAGAGCCCGCGGCTGCAG___GGCTGTGACTCCCTGACGCAGATCCAGTGCGGCCAGCTGCAGAGCCGCAGGGCCCAGATTCACCAGCAGATTGACAAGGAGCTGCAGATGCGGACGGGCGCTGAGAACCTCTACAG___AGCCACCAGCAACAACCGGGTGAGAGAGACGGTCGCCCTGGAGCTGAGCTACGTCAACTCCAACCTGCAGCTGCTGAAGGAGGAGCTGGAGGAGCTCAGCGGTGGCGTGGACCCTGGCCGGCATGGGAG___CGAAGCTGTCACTGTCCCCATGATCCCCCTGGGCCTGAAGGAGACCAAGGAGCTGGACTGGTCTACACCGCTGAAG___GAGCTGATCTCAGTGCACTTTGGAGAGGACGGCGCCTCCTACGAGGCAGAAATCAGGGAGCTGGAGGCCCTGCGGCAG___GCCATGCGGACCCCCAGCCGGAATGAGTCGGGCCTGGAGCTGCTCACAGCCTATTACAACCAGCTGTGCTTCCTGGATGCGCGCTTCCTCACCCCTGCCAGGAGCCTCGGGCTCTTCTTCCACTG___GTACGACTCGCTTACTGGGGTCCCGGCCCAGCAGCGTGCCCTGGCCTTCGAGAAGGGCAGCGTTCTCTTCAACATCGGTGCCCTCCACACGCAGATTGGGGCGCGCCAGGACCGCTCCTGCACCGAGGGTGCCCGCCGCGCTATGGAGGCCTTCCAGAGGGCCGCTG___GGGCCTTCAGCCTCCTGAGGGAGAACTTCTCCCATGCGCCGAGCCCAGACATGAGCGCTGCGTCCCTCTGCGCACTGGAGCAGCTCATGATGGCCCAGGCCCAGGAATGTGTGTTTGAGGGCCTCTCACCACCTGCCTCCATGGCCCCCCAAGACTGCCTGGCCCAGCTGCGCCTGGCGCAGGAGGCCGCCCAG___GTGGCAGCCGAGTACAGGCTAGTGCACCGGACCATGGCCCAGCCACCCGTCCACGACTACGTGCCTGTCTCCTGGACTGCCCTGGTGCATGTCAAGGCCGAGTACTTCCGCTCCCTGGCCCACTACCACGTAGCCATGGCCCTCTGCGACGGCTCCC___CAGCGACCGAGGGAGAGCTCCCCACGCACGAGCAGGTCTTCCTGCAGCCCCCCACCTCCTCTAAGCCCCGAGGCCCTGTGCTGCCGCAGGAGCTGGAGGAGCGCAGGCAGCTTG___GCAAGGCACACCTGAAGCGTGCCATCCTGGGGCAGGAGGAGGCGCTGCGGCTGCACGCCCTGTGCCGCGTCCTGCGCGAGGTGGACCTG)CTTCGGGCTGTGATCTCCCAGACGCTGCAGCGCTCACTGGCCAAGTATGCGGAGCTCGACCGTGAGGATGACTTCTGTGAGGCTGCCGAGGCCCCGGACATCCAGC|GCTGGTAGAGCAGATCACCCCCAAAGCAAGAAGTTCCAGATGAAATATGCATAAGAAGCAGCCTCAAAACTAACAAAAAAGATTCGCACATTCCTCAGTTAGAGGAGGAGCAGAGATGAAGAAAAG(GAGAAGAAAAGCGCTGGAAAGAGAAGAAAAGGAACCTCCTTCTGTGCAGCAGGCTCCTGGCCCAGGGAGTGCGGTGTGCGGCAGAGTGCGTGCAGGGAAGCAGCCTCTGAAATCGTGCAGGGAAGCACCCTGTGAAATCGTGCAGGGAAGCACCCTGTGAAATCGTGCAGGGAAGCACCCTGTGAAGTCGTGCAGGGAAGCACCCTCTGAAATCGTGCAGGGAAGCACCCTCTGAAATCGTGCAGGGAAGCACCCTGTGAAGTCGTGCAGGGAAGCACCTTCTGAAATCGTGCAGGGAAGCACCCTCTGAAATCGTGCAGGGAAGCACCCTCTGAAATGCCTAGAAATAGCTGCCGGGCTTTCACTTGGTTCCCAAATTTCTTCAAAGGTCAAAACCATCACAGTGGGCAACTTTACACCCCAGTGTTCACTGTCCTCAGGCCACTGCAGAGCCATCCTAGTGGGGCAGTGGGCGCGGGGCGGGGGCTCCTGACTCCGGTGAGGTCACCCTGGAGGGGAGTCCCAGGAATCAGCCTGATGTTCAGAATGCCTTCCTGGCATCTCAGAAGTGTACTGGGGGAGACGTGAGGACCTTTCAGCCAAGTGTCAGCGTTCTTATTGCAGGAGAACATTAAAGCCACAACCCAGAAACTTCTCAGGAGCATGGCGCACCCACACCAGCCCCGGGCTCCGCCTGGACAGCACCTCCTGGGCCGCCCTGACCAGCAGACACCATCCTTCCAGCCTCTCTTGGCCACCCGGACCAGCGGGCACCACCCTCCCAGCCTCACGCGGCCACCCTGACCAGCAGGCACCATCCTTCCAGCCTTGCTCAGTCACCCTGACCCAGAGGGCTGCCCTGACCAGCGGGCACCATCCTCCCAGCCCCACTCAGCTGCCCTGACCAGCGGGCACCATCCTCCCAGCCTCACTCGGCCAGCCGAGCTCTGTAGGCCTCAGAGTGCAGAGAACCTCAAATGTTGTGACTTTGCTCTGCTGCAGGGACCTGCCATGGAGTGTCCCTTGTGCGAGCATTTTGAGAGCTATGCCAGCATCCATCCCTGCAGGTCCCATCCCTGAGCCATTTCTCAGGAGAGCAGGAAGGGAGCAGGGAGAGGGGTGCTCCCAGCCAGCCCCGGAACCAGAGGTCTGGGGACGCAGCCGACCAGCCCTCCTTGTCTGGGCCTCTGTTTCCTCTTCGACACAGGGAAGCAGGGAGGGGCCGATCAGCGACTTAGGCCTGTTGGCTGTGGTGGGGTCCACCTGCGTTTCTGGGGAGCCCACGGACCCTGGGGTGTACCTGGGTTTCATTCCCAGTGACCTCTCCTATTGGTCCCCATTTGGGGCGCTGAGATGTGATCGTTTCTTTCCTGAGAATGAGCTGAGGTAAAAACATGCTGGGGAGGAAGATGGGCCCTGGGGGCAGCGAGCTGCGCCTCTGCACCGGGAGAAAGGCCGTGTCCCCAGAGCTGAGGCGGTGGTGGGCAGGGCTCCTGAGAAGCCGGGGCAGGGCAGGGTGTCTCTGAGGTCAATGAGGAACAGCTGAGGTCCAGGGACGCAGGAAGGATGGGGTGAACTCCGGGATGGGGCCGGCAGGGAGCCTCACGCTTACAGAGCCTGGTGTTGGCACTCTCCTGGCTTCCTCCGCAAACCTAGCCACGTGGTCAGGGAGCCCGGGCCTAGCAGACGGCCCCCACCTTGACAGAATCCCCAGGGTCGTGCGTGGCGGTGGGGGCGACTTCACAGCCGAGACCGGGCCTAACGCTGCTGTCTCGCAGTCACCCCTGCAGGCCGCTCAGGGCAGGGCTCTGGCCTGACGGGGGTTCCTGGACACGCCTCTGAGCCGGCAGCCCCTACCCGCACCCGTGCACCTTCCACGCCCGTCTCCAGCAGCCCCTGCCCCCACCCGCACCCCTGCACCTGCCACGCCTGTCTCCGGCAGCCCCTGCCCGCACCCGCACCCCTGCACCTGCCACGCCCGTCTCCGGCAGCACCTGCCACGCCCGTCTCCGGCAGCACCTGCCACGCCCGTCTCCGGCAGCACCTGCCACGCCCGTCTCCGGCAGCCCCTGCCCGCACCCGCACCCCTGCACCTGCCACGCCCGTCTCCGGCAGCCCCTGCCTGCACCCGCACCCCTCACGGCTGTCTCCGGCAGCCCCTGCCCGCGCCCGCACCTCTGCACCTCCCACGCCCCTCTCCGGCAGCCCCTGCCCACACCCGCACCCCTGCACCTCCCACGCCCGTCTTGCCCTGGGGCCCAGGTGCAGGTCTGTGAGGAGGGCAGCCCCGTGCTCCCGTGGCCACCGCTCAGCCAAATGGATTCAGCGAGGGTTTTTAGTGTTTGTGCCTGTGTCCCCGTGTGCCTGTTTCCTGGTGAGGCTGGATGCCTGGCATGTCTGAACACTCACATTCCCCAGGCATGCATGTGCAGCCGCCGCCGCCACCCATGTACTGTGGCGCTGACCCCTCCTGTAACAGCTGTGGTCTTGGCCTCTCGTGTTGGTGGCAGATGTCCCATTTCCCAGTTACTTTCTGTTGTCCAAAAGTTTAACTGTCCTGCCAGCCAAAGCTGCTGAGCATTACTCTGATAGACCATCAGTCCTTGGTAAGTGTCCTGTGCATCTGGGATAAGCATCCGTTTGTTTTCAGCTGCGCTTTCTGTGACTTGCTCTGCGTGAGTCCTCGGTCCACGTGGGCCGTTGCGCTGGTTCCCAGCCTGCCCGACACACTCACTGCGACGCCTCCCTTGCCTACTGCTTGCTGGCTTCTGTGTTCTCTGCAGTAAACATTGATTTCTGACTCGA)$ MILEERPDGAGAGEESPRLQGCDSLTQIQCGQLQSRRAQIHQQIDKELQMRTGAENLYRATSNNRVRETVALELSYVNSNLQLLKEELEELSGGVDPGRHGSEAVTVPMIPLGLKETKELDWSTPLKELISVHFGEDGASYEAEIRELEALRQAMRTPSRNESGLELLTAYYNQLCFLDARFLTPARSLGLFFHWYDSLTGVPAQQRALAFEKGSVLFNIGALHTQIGARQDRSCTEGARRAMEAFQRAAGAFSLLRENFSHAPSPDMSAASLCALEQLMMAQAQECVFEGLSPPASMAPQDCLAQLRLAQEAAQVAAEYRLVHRTMAQPPVHDYVPVSWTALVHVKAEYFRSLAHYHVAMALCDGSPATEGELPTHEQVFLQPPTSSKPRGPVLPQELEERRQLGKAHLKRAILGQEEALRLHALCRVLREVDLLRAVISQTLQRSLAKYAELDREDDFCEAAEAPDIQ|rw* 01BR017 ENSG00000108306.13 ENSG00000277282.1(160358),ENSG00000229306.1(2189483) -/- ./+ chr17:39297127 chr21:10810193 CDS/splice-site intergenic translocation 1 2 0 128 8 high out-of-frame . F-box-like(100%)| . . ENSG00000108306.13 . ENST00000264658.11 . upstream upstream . ^(GGAGAGAGCCGAGCTAGCGACGAGCAGTCGTTGCGGCCGCCGGCGCCGCGGGAGGTGGTGGAGGCCTAGCCGGAGCCGAGAGGTCTCTTGTTCCCGTCCCACGGTCCCGGCGTCACCCCTCCGGCGCCCAGTCCCCGTCCCGGAACTCCCGGGCCTGTCCTGGGCCCCCGGTCTGTGCACTCCGCTCGCCGCAGCGCCCGGCCCGGGCCGCACCCGCCGGCCCCATGAGGAGGGACGTGAACGGAGTGACCAAGAGCAGGTTTGAG___ATGTTCTCAAATAGTGATGAAGCTGTAATCAATAAAAAACTTCCCAAAGAACTCCTGTTACG___GATATTTTCTTTTCTAGATGTTGTTACCCTGTGCCGCTGTGCTCAGGTCTCCAGG___GCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAG___GGCCGAGTAGTGGAGAATATTTCAAAACGATG)TGGGGGCTTTTTACGAAAGTTAAGTCTTCGTGGATGTCTTGGAGTGGGAGACAATGCATTAAG___AACCTTTGCACAAAACTGCAGGAACATTGAAGTACTGAATCTAAATGGGTGTACAAAGACAACAGACGC|ATTCTACAAAAATATGGTTTCAAAAGTGTGAATTAAAAGAAAtCTTCAAATCTGTCAGATGAATGGAGACATCACAAAGAAGTTtCTCAGAATGCTTCTGTCTAGTTTAAATATGAAGATATTTCTTTTTCACATAGACCTCAAATGGCTCAGAAATACACCTTTGCAGAATGCAGGAAAAGACTGTTTCTAAACTGCTCAAACAAAATAAAGTTTCAACACTGTGAGATGAATGCAC MRRDVNGVTKSRFEMFSNSDEAVINKKLPKELLLRIFSFLDVVTLCRCAQVSRAWNVLALDGSNWQRIDLFDFQRDIEGRVVENISKRCGGFLRKLSLRGCLGVGDNALRTFAQNCRNIEVLNLNGCTKTTDa|fyknmvskv* 01BR017 ENSG00000232677.8 ENSG00000256612.7 -/- +/+ chr19:36321993 chr19:40924313 exon/splice-site exon inversion 2 1 0 23 4 high . . . . . ENSG00000232677.8 ENSG00000256612.7 ENST00000658126.1 ENST00000599198.5 upstream upstream . ^(GGACTCGTGGGCGCTCGCACTGGCGCTGATGTAGTTTCCTGACCTCTGACCCGTATTGTCTCCAGATTAAAG___GTACGACATTTGGAGGCCCCAGCGAGAAACGTCACCGGGAGAAACGTCACCGGGCGAGAGCCGGGCCCGCTGTGTGCTCCCCCGGAAGGACAGCCAGCTTGTAGGGGGGAGTGCCACCTGAAAAAAAAATTTCCAGGTCCCCAAAGGGTGACCGTCTTCCGGAGGACAGCGGATCGACTACCATGTGGGTGCCCACAAAAATTCCAC)CTCTGAGTCCTCAACTGCTGACCCCGGGGTCAG___TAGACACGGGGTTTCACCATGTTGGCCAGGCCGGTCTTGAACTcGTGACGTCAGGTGATGCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAG___GTCCAGATTTTGAACAAATCTCGCTAGAGATTGAACAG|GCCTCTTGCTACTCCTGGTTCAGCGTCACCCTAACTCCCATGGCAC?CTCCCACCAGGGCCCCGCCCTCTGCCCCTTTTGGGGAACCTTCTGCAGATGGACAGAAGAGGCCTACTCAAATCCTTTCTGAGG(___TTCCGAGAGAAATATGGGGACGTCTTCACGGTACACCTGGGACCGAGGCCCGTGGTCATGCTGTGTGGAGTAGAGGCCATACGGGAGGCCCTGGTGGACAACGCTGAGGCCTTCTCTGGCCGGGGAAAAATCGTCATCATGGACCCAGTCTACCAGGGATATG___GCATGCTCTTTGCCAATGGAAACCGCTGGAAGGTGCTTCGGCGATTCTCTGTGACCACCATGAGGGACTTCGGGATGGGAAAGCGGAGTGTGGAGGAGCGGATTCAGGACGAGGCTCAGTGTCTGATAGAGGAACTTCGGAAATCCAAGG___GAGCCCTCGTGGACCCCACCTTCCTCTTCCATTCCATTACCGCCAACATCATCTGCTCCATCATCTTTGGAAAACGCTTCCACTACCAAGATCAAGAGTTCCTGAAGACGCTGAACTTGTTCTGCCAGAGTTTCTTACTCATCAGCTCTATATCCAGCCAG___CTGTTTGAGCTCTTCTCTGGCTTCTTGAAATACTTTCCTGGGGCACACAGGCAAGTTTACAAAAACCTACAGGAAATCAATGCTTACATTGGCCACAGTGTGGAGAAGCACCGTGAAACCCTGGACCCCAGCGCCCCCAGGGACCTCATCGACACCTACCTGCTCCACATGGAAAAA___GAGAAATCCAACCCACACAGTGAATTCAGCCACCAGAACCTCATCATCAACACGCTCTCGCTCTTCTTTGCTGGCACTGAGACCACCAGCACCACTCTCCGCTACGGCTTCCTGCTCATGCTCAAATACCCTCATGTCGCAG___AGAGAGTCTACAAGGAGATTGAACAGGTGGTTGGCCCACATCGCCCTCCAGCGCTTGATGACCGAGCCAAAATGCCATACACAGAGGCAGTCATCCGTGAGATTCAGAGATTTGCTGACCTTCTCCCCATGGGTGTGCCCCACATTGTCACCCAACACACCAGCTTCTGAGGGTACACCATCCCCAAG___GACACGGAAGTATTTCTCATCCTGAGCACTGCTCTCCGTGACCCACACTACTTTGAAAAACCAGACGCCTTCAATCCTGACCACTTTCTGGATGCCAATGGGGCACTGAAAAAGAATGAAGCTTTTATCCCCTTCTCCTTAG___GGAAGCGGATTTGTCTTGGTGAAGGCATTGCCCGTGCGGAATTGTTCCTCTTCTTCACCACCATCCTCCAGAACTTCTCCGTGGCCAGCCCCGTGGCTCCTGAAGACATCGATCTGACACCCCAGGAGTGTGGTGTGGGCAAAATACCCCCAACATACCAGATCTGCTTCCTGCCCCGCTGAAGGGGCTGAGGGAAGGGGGTCAAAGGATTCCAGGGTCATTCAGTGTCCCCACCTCTGTAGATAATGGCTCTGACTCCCTGCAACTTCCTGCCTCTGAGAGACCTGCTGCAAGCCAGCTTCCTTCCCTTCCATGGCACCAGTTGTCTGAGGTCGCAGTGCAAATGAGTGGAGGAGTGAGATTATTGAAAATTATAATATACAAAATTATATATATATATTTTGAGACAGAGTCTCACTCAGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCGGGGTTCAAGAAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGTGTGCTACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGATCTCAAACTCCTGAACTCAAGTGATTCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCATGCCCGGCCATGTATATATATAATTTTAAAAATTAAGATGAAATTCACATAAAATAAAATTAGCCATTTTAAAGTGTACAATTTAGTGGTGTGTGGTTCATTCACAAAGCTGTACAACCACCACCATCTAGTTCCAAACATTTTCTTTTTTTCTGAGACGGAGTCTCACTCTGTCACCCAGGTTCGAGTTCAGTGGTCTTGAACTCCTGATGTCAGGTGATTCTCCTAGTTCCAAATGTTTTCATTATCTCCCCCCAACAAAACCCATACCTATCAAGCTGTCACTCCCCATACCCCATTCTCTTTTTCATCTCAGCCCCTGTCAATCTGGTTTTTGTCCTTATGGACTTACCAATTCTGAATATTTCCTATAAACAGAATCACACAATATTTGATTTTTTTTTTAAAACTAAGCCTTGCTCTGTCTCCCAGGCTGGAGTGCTGTGGCGTGATTTTGGTTCACTGCAACCTCCGCCTTCCAAGTTCAAGAGATTCTCCTGCCTCAGCTTCCAAGTAGCTGGGATTACAGGCATGTGGTACCACGCCTGGCTAATTTTCTTGTATTTTTAGTAGGGACATGTTGGCCAGGCTGGTTGTGAGCTCCTGGCCTCAGGTGATCCACACGCCTCAGTGTCCCAGAGTGCTGATATTACAGGCGTAATATGTGATCTTTTGTGTCTGGTTCCTTTCACGTTGAACGCTATTTTTGAGGTTCGTGCCTGTTGTAGACCACAGTCACACACTGCTGTAGTCTTCCCCCATCCTCATTCCCAGCTGCCTCCTCCTACTGTTTCCCTCTATCAAAAAGCCTCCTTGGCGCAGGTTCCCTGAGCTGTGGGATTCTGCACTGGTGCTTTGGATTCCCTGATATGTTCCTTCAAATCCACTGAGAATTAAATAAACATCGCTAAAGCATGACCTCCCCACGTCAA)$ . 01BR017 ENSG00000136770.11 ENSG00000068724.17 -/- +/- chr10:21882282 chr2:46923181 CDS/splice-site intron translocation/5'-5' 2 1 0 157 5 high out-of-frame . DnaJ_domain(100%)| . . ENSG00000136770.11 ENSG00000068724.17 ENST00000376980.8 . upstream downstream . ^(ACTGTGCAGCCCAGGCGCCGGGCGCTGCCTCTACAGCTGTGTGTAGGCCTGGGGGCGAGGGTCTTCGGAACGTAGCGCTGGCTGCGGCCCCGCCCGCCTACCCACCCGCCCGTCCGGCAGCCGGCTCCCGCCGCCTCCGCGCTCTGTCTGGGGCCAGCCACCTGGCGGGCCGCTCCGGTGCGCCTGCCCGCGCTTTTCACTGACAGGCGCTGTTCCCCACAGCCAGCGCCGCCCGCCACGTCCCAGCTCTCGGCCAACGGAGCTGCGCGGCGGGTGACCTTTCCGAGCCCAGCGCGATGACGGCTCCTTGCTCCCAGCCGGCGCAGCTTCCTGGACGCCGCCAGCTCGGGCTGGTGCCGTTCCCGCCGCCGCCGCCGCGGACGCCGCTGCTGTGGCTGCTGCTGCTGCTGCTGGCCGCCGTGGCGCCGGCGCGCGGCTGGGAGAGCGGAGACCTGGAGTTGTTTGACTTAGTGGAGGAGGTGCAGCTCAACTTCTACCAGTTCCTCGGGGTGCAGCAG___GATGCATCATCTGCAGACATCAGAAAAGCATATCGTAAGCTTTCACTAACTTTACATCCAGACAAGAATAAAGATGAAAATGCAGAAACTCAGTTTAGACAA___TTGGTGGCCATTTATGAAGTTTTAAAGGATGATGAACGAAGGCAGAG___GTATGATGATATTCTGATCAATGGACTTCCAGATTGGCGACAGCCTGTATTCTACTACAGGCGGGTGAGAAAAATGAGCAATGCTGAGCTGGCATTACTCTTGTTCATTATTCTCACAGTGGGTCATTATGCTGTGGTTTGGTCAATCTACCTGGAAAAACAACTG___GATGAACTACTAAGTAGAAAAAAGAGAGAAAAGAAAAAAAAGACTGGCAGCAAGAGTGTGGATGTATCAAAACTCGGTGCTTCAGAAAAAAATGAAAG___ATTGCTGATGAAACCACAGTGGCATGATTTGCTTCCATGCAAACTGGGGATTTGGTTTTGCCTTACACTAAAAGCATTACCTCACCTCATCCAG___GATGCTGGGCAGTTTTATGCTAAATATAAAGAAACAAGATTGAA)GGAAAAGGAAGATGCACTGACTAGAACTGAACTTGAAACACTTCAAA___AACAGAAGAAAGTTAAAAAACCAAAACCTGAATTTCCTGTATACACACCTTTAGAAACTACATATATTCAGTCTTATGATCATGGAACTTCCATAGAAGAAATTGAGGAACAAATGGATGATTGGTTGGAAAACAGGAACCGAACACAGAAAAAACAG|GGCTTGGAGAGCTTCCAGAGAGCTGAACACATGGAGGCTGACAGGAAGATGAATGAGAAGACATCCACAGGCCAGGAGGGTGGTGCACTCCAACTCCATGGGGACAGAAGCACCTGTGCTCAGGACCCTTCCAGACCTC MTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVEEVQLNFYQFLGVQQDASSADIRKAYRKLSLTLHPDKNKDENAETQFRQLVAIYEVLKDDERRQRYDDILINGLPDWRQPVFYYRRVRKMSNAELALLLFIILTVGHYAVVWSIYLEKQLDELLSRKKREKKKKTGSKSVDVSKLGASEKNERLLMKPQWHDLLPCKLGIWFCLTLKALPHLIQDAGQFYAKYKETRLKEKEDALTRTELETLQKQKKVKKPKPEFPVYTPLETTYIQSYDHGTSIEEIEEQMDDWLENRNRTQKKQ|glesfqraehmeadrkmnektstgqeggalqlhgdrstcaqdpsrp 01BR017 ENSG00000197586.13 ENSG00000275358.1(6913),ENSG00000100987.14(381) +/+ ./+ chr20:25225673 chr20:25070504 3'UTR intergenic duplication 4 10 0 221 22 medium stop-codon . GDA1/CD39_(nucleoside_phosphatase)_family(100%)| . . ENSG00000197586.13 . ENST00000376652.9 . downstream upstream inconsistently_clipped(1) ^(GCGGAGCCCAGGCCCTAGGGAATCGTGGGGTCGTATCCCGCGGGTGGAGGCCGGGGTGGCGCCGGCCGGGGCGGGGGAGCCCAAAAGACCGGCTGCCGCCTGCTCCCCGGAAAAGGGCACTCGTCTCCGTGGGTGTGGCGGAGCGCGCGGTGCATG___GAATGGGCTATGTGAATGAAAAAAGGTATCCGTTATGAAACTTCCAGAAAAACGAGCTACATTTTTCAG___CAGCCGCAGCACGGTCCTTGGCAAACAAGGATGAGAAAAATATCCAACCACGGGAGCCTGCGGGTGGCGAAGGTGGCATACCCCCTGGGGCTGTGTGTGGGCGTGTTCATCTATGTTGCCTACATCAAGTGGCACCGGGCCACCGCCACCCAGGCCTTCTTCAGCATCACCAGGGCAGCCCCGGGGGCCCGGTGGGGTCAGCAGGCCCACAGCCCCCTGGGGACAGCTGCAGACGGGCACGAGGTCTTCTACGGGATCATGTTTGATGCAGGAAGCACTGGCACCCGAGTACACGTCTTCCAGTTCACCCGGCCCCCCAGAG___AAACTCCCACGTTAACCCACGAAACCTTCAAAGCACTGAAGCCAGGTCTTTCTGCCTATGCTGATGATGTTGAAAAG___AGCGCTCAGGGAATCCGGGAACTACTGGATGTTGCTAAACAGGACATTCCGTTCGACTTCTGGAAGGCCACCCCTCTGGTCCTCAAGGCCACAGCTGGCTTACGCCTGTTACCTGGAGAAAAGGCCCAGAAGTTACTGCAGAAG___GTGAAAAAAGTATTTAAAGCATCGCCTTTCCTTGTAGGGGATGACTGTGTTTCCATCATGAACGGAACAGATGAAG___GCGTTTCGGCGTGGATCACCATCAACTTCCTGACAG___GCAGCTTGAAAACTCCAGGAGGGAGCAGCGTGGGCATGCTGGACTTGGGCGGAGGATCCACTCAGATCGCCTTCCTGCCACGCGTGGAG___GGCACCCTGCAGGCCTCCCCACCCGGCTACCTGACGGCACTGCGGATGTTTAACAGGACCTACAAGCTCTATTCCTACAG___CTACCTCGGGCTCGGGCTGATGTCGGCACGCCTGGCGATCCTGGGCGGCGTGGAGGGGCAGCCTG___CTAAGGATGGAAAGGAGTTGGTCAGCCCTTGCTTGTCTCCCAGTTTCAAAGGAGAGTGGGAACACGCAGAAGTCACGTACAGGGTTTCAGGGCAGAAAGCAG___CGGCAAGCCTGCACGAGCTGTGTGCTGCCAGAGTGTCAGAGGTCCTTCAAAACAGAGTGCACAGGACGGAGGAAGTGAAGCATGTGGACTTCTATGCTTTCTCCTACTATTACGACCTTGCAGCTGGTGTGGGCCTCATAG___ATGCGGAGAAGGGAGGCAGCCTGGTGGTGGGGGACTTCGAGATCGCAGCCAAGTACG___TGTGTCGGACCCTGGAGACACAGCCGCAGAGCAGCCCCTTCTCATGCATGGACCTCACCTACGTCAGCCTGCTACTCCAGGAGTTCGGCTTTCCCAGGAGCAAAGTGCTGAAG___CTCACTCGGAAAATTGACAAT)GTTGAGACCAGCTGGGCTCTGGGGGCCATTTTTCATTACATCGACTCCCTGAACAGACAGAAGAGTCCAGCCTCATAGTGGCCGAGCCATCCCTGTCCCCGTCAGCAGTGTCTGTGTGTCTGCATAAACCCTCCTGTCCTGGACGTGACTTCAT|TGTTATGGAATCCCTGGCCCTCCAAGGGCTCCCTACATGGGACAGTAAAGGAGATCCCAGAATCTCCCCCACTTCCCAGTTTAGTTACTGCACAAAATTGACTGTGTTAAAGAGGGAAATAGAAAAGAGGCAGCCTGGTTGGTCGAAGGACAAAAAATTTCAGTTCTGCAGGAGGAATGAGTTTAAG . 01BR017 ENSG00000121858.11 ENSG00000144959.11 -/- -/- chr3:172514861 chr3:172648114 CDS/splice-site CDS/splice-site duplication 6 5 0 4901 144 medium in-frame . |alpha/beta_hydrolase_fold(100%) . . ENSG00000121858.11 ENSG00000144959.11 ENST00000241261.7 ENST00000475381.7 upstream downstream . ^(GACCGGCTGCCTGGCTGACTTACAGCAGTCAGACTCTGACAGGATCATGGCTATGATGGAGGTCCAGGGGGGACCCAGCCTGGGACAGACCTGCGTGCTGATCGTGATCTTCACAGTGCTCCTGCAGTCTCTCT)GTGTGGCTGTAACTTACGTGTACTTTACCAACGAGCTGAAGCAG___ATGCAGGACAAGTACTCCAAAAGTGGCATTGCTTGTTTCTTAAAAGAAGATGACAGTTATTGGGACCCCAATGACGAAGAGAGTATGAACAGCCCCTGCTGGCAAGTCAAGTGGCAACTCCGTCAGCTCGTTAGAAAG|AGTAACCTGATCCACTACCTGGGACTGAGCCATCACCTGCTGGCACTGAATTTTATCATTGTTTCTTTTGGCAAAAAAAGCGCGTGGTCTTCTGCCCAAGTGAAGGTGACCGACACAGACTTTGATGGTGTGGAAGTCAGAGTGTTTGAAGGCCCTCCGAAGCC(CGAAGAGCCACTGAAACGCAGCGTCGTTTATATCCACGGAGGAGGCTGGGCCTTGGCAAGTGCAA___AAATCAGGTATTATGATGAGCTGTGTACAGCAATGGCTGAGGAATTGAATGCTGTCATTGTTTCCATTGA___ATACAGGCTAGTTCCAAAGGTTTATTTTCCTGAGCAAATTCATGATGTTGTACGGGCCACAAAGTATTTCCTGAAGCCAGAAGTCTTACAGAAGTATATGGTTGATCCAGGCAGAATTTGCATTTCTGGTGACAGTGCTGGTGGAAATCTGGCTGCTGCCCTTGGACAACAG___TTTACTCAAGATGCCAGCCTAAAAAATAAGCTCAAACTACAAGCTTTAATTTATCCAGTTCTTCAAGCTTTAGATTTTAACACACCATCTTATCAGCAAAATGTGAACACCCCAATCCTGCCCCGCTATGTCATGGTGAAGTATTGGGTGGACTACTTCAAAGGCAACTATGACTTTGTGCAGGCAATGATCGTTAACAATCACACTTCACTTGATGTGGAAGAGGCTGCTGCTGTCAGGGCCCGTCTAAACTGGACATCCCTCTTGCCTGCATCCTTCACAAAGAACTACAAGCCTGTTGTACAGACCACAGGCAATGCCAGGATTGTCCAGGAGCTTCCTCAGTTGCTGGATGCCCGCTCCGCCCCACTCATTGCAGACCAGGCAGTGCTGCAGCTCCTCCCAAAGACCTACATTCTGACGTGTGAGCATGATGTCCTCAGAGACGATGGCATCATGTATGCCAAGCGTTTGGAGAGTGCCGGTGTGGAGGTGACCCTGGATCACTTTGAGGATGGCTTTCACGGATGTATGATTTTCACTAGCTGGCCCACCAACTTCTCAGTGGGAATCCGGACTAGGAATAGTTACATCAAGTGGCTAGATCAAAACCTGTAAAGGAGCAAAACTTCCAGAAGCCTCGAGCCCCTCTTGACCTCCTACACCTGCTTTGGAAAGACATGCACTTTTTAGTTGACTAATTCTTCCTCCCATTCCCCTCTACTTGCGAGTTATGGAATTTCTATTCCATAACTGAAGTCTTTATGATAACCTAATTTTTAAAAATGAATTTGACTAACTTAAGTGCAAAACATGTAAATTTGGTTCCCAGAGTGGGCCAATCTCTCTGTTCTTGTTATCTTAGCCAACTATACTGATACCTACAGCTACAGAAAGCAGGACTAGGAACTGGAAATAACTTTGGGTCCTGCCTTCATTAGGACGTTCTTTTTAGAAGCAGTTCTTCCAGCTCTGGATCATAGAGTGACCTTTAATAAGTTAAAAAAACGAGGACTCCTTAATTCTGCTAGAGTTAACCTTGAGTTCAGAGCAGTATTAAATGCGTGCACTTTCAGGTCAGTACTGGGGACCAAGTACCCTCTGGTCTTTTGTGAATGGATGGTTTTGTTTCCTATGGGAATTTTGGCAAAGGTTTTCTGGAAAGAACAAGTTTCTCAAAGGACTTTCTTCCTCTAGAATGTTCATTTTATGAGATCGCTATCTGTAAGTCCAGTTGGATTACAGGAATACTTGAAAGTTACTTTCTACCACTATTAGAAAATATGAAGTCGCATGCACTGGATATCTATATATCATTAGGTTTTTGTTGTGTTTTTGGTTATGCTGTCCCCCTTCTCCTTGGGGAGATATTTGGGAGCAAACTTATTTAGATTTAGAGTAAACTTTTCATTATAGAGCAAGTAAAAACAGACAAATGAAACAACCTAGTGTTTCACATAAAAATACTTCTGACATAAAGTACCAAGAGCAGTGTGAATATACTTGGCATAGTCAAAAAAGAAAATACATTTAATATTAGTTCAAAATTGTTAAAAATACCTTTAGAAGGTCTAGTCTATTATTGAAAACTCAATTTTTTCACTTATATGGCTTTAAAATGGAGCTATTTTGCTACAATATAATGTATTGTTTATTTTTTTAAGTTATTTAATGTTAATATACATAGCTAGACTTAAGGTTTTTCAGAAAGATGTCCATAATAAATATTAAAAACAATGGTATTTTTTAAAAAACTGCCTTAGGGTTTTAAAACCTTCCCTACAGTTATAACCACGTGTAATTTTGTGGAAATGATATAACAGCTATTAATACTACTATAACATAGGCATAAATATTTTCGTGTTTATATGCATATACAAGTTAAAATAATTAGAAACTATGACTGCGCCTAGTAAAGTCATCTAGGTTTATAGTTCAGTAGCTTAGGCAAGGCACACACTGCTCATCTCCGCTTTTTAGGGTCAGAGGAACACAAGCTCATGTTCTGAGTGAAGGGCGTACACTGGCACCTGGTGTTGCCTAGATCCCCCATCTCCTCCTTCCAGCCAGGTCTGGAAGTTTCAACAGCCCAAGCTTAACTTCATGTAAAGTCTTCACTGCCAGTGGGAACATCTTTGACACAACAAGACACTCCAATTGTGATTTGAGTTGAGGATCTCTGCCTGCCTTCCTGCCGTCCTTCCTTCTTCCCCGATCCATGCTACTTTTAGGGGCTGCGGAGAGCAGCAGCAGAGCTGAGTAATGATACAGGGCACCACGGAGAGAAAGTAGAACCATTTCACTCCTGGGAAGATGGGGTATTTCCCACTTCCAGCAACGAAATAACAAATGAAAAGTTGCATACTTATTGATGTATTGTATGAGCCAGTAGCATTTTATGTACAAAACAGAAGTCAATGCAACAGTATGTATGTGTGCCTGTGTGTGTATAAAAATAACCATTGAAGCTAACTTGCTAATGTACTTAGGCAAGCCACTTCCCATCTCTGGGCCTCGTCTTTCCTCCCTCTAAAATCAAAGAGCTGAATTATGTGATCCTTGAGGTCTCTTCCACTTATAATACCAACTGTCTTGTCAGACTGGCAAATTATATTGGCCTCTCCTTATGTGGTGGTTTTTTTGGTAGGTCATAGTTCCTTATACACAGACACCTGCATCATCGAAGGTCTTTTTTTCCTAAAAAAAAAAAATGGGATTTTAGTTCTTATTCTGTGATAACTATCCTCCTCATATAATACTATTCTTTTTGACACCATTTGAAGGAACCAATATTTGGACCTTATTTTGAGGTTGTCTGTCTCGAAGAAAAAGAAAATAAAATGTATAGGCAGGGTTCCTTCAATTGGCATTTTCCCCAGAATTGTGAGCCAAAGCCTATAGTAATTGCAGACAGCAAATGATTCCGGATCTCTAAAAGGCTCTCTCAGATGAAAAGGGAGTAAAGGAAAAAAGAGGTCAACCACTGTTTCTGATAATGTACTTGAGTTTCATTGTTCTTTTAGTTTGTATTCTTATAAAAAATGTTTACACTCTGCAGATTGATTTTTTTTTTTTAGTACTGTGGCTTTCTTTTCCTATTTTATGAAAAAAATGATAATCTTTTTGTAAAATTGTCTGTGAAATATAAACATTAATATATAAAGAAAAACCTTGAAGTGCTGTATAGTGAAGTATAAATTAATGTTTTATTGATTTGTGAAGAATTTAAGACTATTATATAATTATCTTGGTGGATCTATTTTATGCATGACCTTTTAACCTTTGACTTTGCTTATTTCCCACTACGAAGGGGAAGGTAGATTTTATGAATGATTTTAATAGCAAATATATTTTATAAAGTGAAAATCCAGTGTGGAGGTAGCAAAGCATCTATCTATTCTGAATCATGTTTGGAAATAAAATTGCTCCATCTGGGAATGTGCTTTCATTTTCCCGTCTCATTTTCTGTTTCCCATTTGAAAACAGTGTTCTCTTCTCTTCTTTCTGTATGCCAAATTGCCAGCCACAATTCTTTCCCAATCTTCTGCCCAGTGGAGTACTCCAGCTGTCTTTCCTTTAGAGAGGTGGTTCAGTGGCCTCCTTGATGACATTTGTTTCATGTCTGGATACAGTATGTGTTGCCCTCCTTTGGACTGGCTAGAATATTCATAAAAGCCAGGCAGGCCCTGGGACTATTTTGGGACCTTCAATACACATGTTAGGAAAAGGATGATCATAATGCCAAGAGTTTGAGCTGAATTGTTTCAGCCAAAGCATCACTATCACTGAAGGCAGGTTCTCAAACTGACCTTGTCATTACAAATAAATCTAATTTCACACTTGA)$ MAMMEVQGGPSLGQTCVLIVIFTVLLQSLCVAVTYVYFTNELKQMQDKYSKSGIACFLKEDDSYWDPNDEESMNSPCWQVKWQLRQLVRK|SNLIHYLGLSHHLLALNFIIVSFGKKSAWSSAQVKVTDTDFDGVEVRVFEGPPKPEEPLKRSVVYIHGGGWALASAKIRYYDELCTAMAEELNAVIVSIEYRLVPKVYFPEQIHDVVRATKYFLKPEVLQKYMVDPGRICISGDSAGGNLAAALGQQFTQDASLKNKLKLQALIYPVLQALDFNTPSYQQNVNTPILPRYVMVKYWVDYFKGNYDFVQAMIVNNHTSLDVEEAAAVRARLNWTSLLPASFTKNYKPVVQTTGNARIVQELPQLLDARSAPLIADQAVLQLLPKTYILTCEHDVLRDDGIMYAKRLESAGVEVTLDHFEDGFHGCMIFTSWPTNFSVGIRTRNSYIKWLDQNL* 01BR017 ENSG00000108306.13 ENSG00000279669.1(82995),ENSG00000279094.3(172327) -/- ./- chr17:39297127 chr21:5326828 CDS/splice-site intergenic translocation 0 10 0 128 30 medium out-of-frame . F-box-like(100%)| . . ENSG00000108306.13 . ENST00000264658.11 . upstream downstream . ^(GGAGAGAGCCGAGCTAGCGACGAGCAGTCGTTGCGGCCGCCGGCGCCGCGGGAGGTGGTGGAGGCCTAGCCGGAGCCGAGAGGTCTCTTGTTCCCGTCCCACGGTCCCGGCGTCACCCCTCCGGCGCCCAGTCCCCGTCCCGGAACTCCCGGGCCTGTCCTGGGCCCCCGGTCTGTGCACTCCGCTCGCCGCAGCGCCCGGCCCGGGCCGCACCCGCCGGCCCCATGAGGAGGGACGTGAACGGAGTGACCAAGAGCAGGTTTGAG___ATGTTCTCAAATAGTGATGAAGCTGTAATCAATAAAAAACTTCCCAAAGAACTCCTGTTACG___GATATTTTCTTTTCTAGATGTTGTTACCCTGTGCCGCTGTGCTCAGGTCTCCAGG___GCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAG___GGCCGAGTAGTGGAGAATATTTCAAAACGATGTGGGGGCTTTTTACGAAAGTTAAGTCTTCGTGGATGTCTTGGAGTGGGAGACAATGCATTAAG___)AACCTTTGCACAAAACTGCAGGAACATTGAAGTACTGAATCTAAATGGGTGTACAAAGACAACAGACGC|AATCTGCAAGTGGATATTTGGAGAcCTTTCAGGCCTACTGTGGAAAAGCAAATATCTTCAAATACAAACTACACAGAAGCATTCTGAGAAACTTCTCTGTGAGGTGTGCATTCAACGCACAGAGTCgAACCtaTCTATTGATTGAG MRRDVNGVTKSRFEMFSNSDEAVINKKLPKELLLRIFSFLDVVTLCRCAQVSRAWNVLALDGSNWQRIDLFDFQRDIEGRVVENISKRCGGFLRKLSLRGCLGVGDNALRTFAQNCRNIEVLNLNGCTKTTDa|ickwifgdlsgllwkskylqiqttqkhsekllcevciqrtesnlsid* 01BR017 ENSG00000135447.17 ENSG00000257634.1(9797),ENSG00000270858.1(105515) -/- ./- chr12:54582381 chr12:54697231 intron intergenic duplication 4 4 0 7 4 medium stop-codon . . . . ENSG00000135447.17 . ENST00000257905.13 . upstream downstream . ^(AGAGTCCCCGGAGCCGCGAGCTGGGAGCGCTGTGCCGGGAGCCGGGAGCCGAGCGCGCCGGGCTGGGGCCGGGGCCGGAGCGGAGCGGAGAGGGAGCGCGCCCGCCCCAGCCCCGAGTCCCGCCGCCTTCCCTCCCGCCGCAGCGCGGGCCCACCGGCCGCCGCCCCAGCCATGGAGCAAGACAACAGCCCCCGAAAGATCCAGTTCACGGTCCCGCTGCTGGAGCCGCACCTTGACCCCGAGGCGGCGGAGCAG___ATTCGGAGGCGCCGCCCCACCCCTGCCACCCTCGTGCTGACCAGTGA)CCAGTCATCCCCAG___AGATAGATGAAGACCGGATCCCCAACCCACATCTCAAG___TCCACTTTGGCAATGTCTCCACGGCAACGGAAGAAGATGACAAGGATCACACCCACAATGAAAG___GGAAGACCATGTATCCCAGCAAGTGAGGAGTA|CAAAAAAGTTCGTGACTGTTCTAGCTTCTTGGCAAATCACACCTTTTTTTCTAAATAAAACAGTATTATTTGTACCACTTAAA . 01BR017 ENSG00000113441.16 ENSG00000250551.1 +/+ +/+ chr5:97022484 chr5:96214975 CDS/splice-site exon/splice-site duplication 7 0 0 75 20 medium out-of-frame . ERAP1-like_C-terminal_domain(100%),Peptidase_family_M1_domain(100%)| . . ENSG00000113441.16 ENSG00000250551.1 ENST00000231368.10 ENST00000507997.1 downstream upstream . ^(AGTCAGCTGGGCCGCCTCAGCTCTCGGAGTAGGAAGCTCGGGCGCTCCGGCTGTAAGGAGCCGCGGCGGGGGGAAAATGGAGCCCTTCACCAATG___ATCGGCTTCAGCTCCCCAGGAATATGATTGAAAACAGCATGTTTGAGGAAGAACCAGATGTGGTGGATTTAGCCAAAGAGCCTTGTTTACATCCTCTAGAGCCTGATGAGGTGGAATATGAGCCCCGGGGTTCCCGACTGCTGGTGCGGGGTCTTGGTGAGCATGAGATGGAGGAGGATGAAGAGGATTATGAGTCATCAGCAAAGCTGCTGGGCATGTCCTTCATGAATAGAAGCTCAGGCCTTCGGAACAGTGCAACTGGTTACAGGCAGAGCCCAGATGGGGCTTGTTCAGTACCCTCTGCAAGGACCATGGTGGTCTGTGCTTTTGTCATCGTGGTTGCTGTTTCTGTAATCATGGTGATTTACTTACTGCCCAGATGTACCTTTACCAAAGAAGGCTGCCATAAAAAAAACCAGTCAATTGGACTAATTCAGCCATTTGCAACAAATGGGAAATTGTTTCCATGGGCACAGATCAGGCTTCCCACTGCCGTTGTGCCACTACGCTATGAACTCAGCCTACACCCGAACCTAACCTCGATGACATTCAGGGGTTCTGTGACAATTTCAGTTCAGGCTCTTCAGGTCACATGGAATATCATTCTTCATAGCACAGGTCATAATATTTCAAGAGTGACCTTTATGTCAGCAGTTTCAAGCCAAGAAAAACAAGCTGAGATCCTGGAATATGCATATCATGGACAGATCGCCATTGTTGCCCCCGAAGCCCTTCTAGCAGGGCACAATTATACGTTGAAGATAGAGTACTCGGCAAATATATCTAGTTCTTATTATGGGTTTTATGGCTTCTCCTACACAGATGAAAGTAATGAGAAAAA___GTACTTTGCAGCAACTCAGTTTGAACCCCTGGCAGCAAGATCTGCTTTTCCTTGTTTTGATGAACCAGCATTTAAAGCCACTTTTATCATCAAGATCATAAGGGATGAGCAATACACCGCTTTATCAAATATGCCTAAG___AAGTCATCAGTCGTTCTAGATGATGGACTTGTTCAGGATGAGTTTTCTGAGAGTGTGAAGATGAGCACTTACTTGGTTGCTTTCATTGTGGGAGAGATGAAGAACCTGAGTCAGGACGTAAATGGAACCCTG___GTTTCTATATATGCTGTACCAGAAAAGATTGGTCAAGTTCATTATGCCTTGGAAACAACTGTGAAGCTTCTTGAGTTTTTTCAAAACTACTTTGAAATTCAGTACCCACTTAAGAAATTGG___ATTTGGTGGCTATTCCTGACTTTGAAGCAGGAGCAATGGAAAATTGGGGTTTGCTCACCTTCCGAGAGGAGACACTTCTGTATGACAGTAACACTTCTTCAATGGCGGATAGAAAGCTGGTGACTAAAATCATTGCTCATGAGCTGGCCCACCAG___TGGTTTGGCAATCTGGTAACAATGAAGTGGTGGAATGACCTATGGCTAAATGAAGGTTTTGCCACTTTCATGGAGTATTTCTCTTTGGAAAAAATATTCAAAGAGCTTTCTAGT___TATGAAGATTTCTTAGATGCTCGATTTAAAACCATGAAGAAAGATTCCTTAAATTCATCTCATCCAATATCATCATCTGTTCAGTCTTCAGAACAAATTGAAGAAATGTTTGATTCTCTTTCCTATTTTAAG___GGATCTTCTCTCTTGTTGATGTTGAAAACTTACCTTAGTGAAGATGTGTTTCAACATGCTGTTGTCCTTTACCTGCATAATCACAGCTATGCATCTATTCAAAGTGATGATCTGTGGGATAGTTTTAATGAG___GTCACAAACCAAACACTAGATGTAAAGAGAATGATGAAAACCTGGACCCTGCAGAAAGGATTTCCTTTAGTGACTGTTCAAAAGAAAGGAAAGGAACTTTTTATACAACAAGAGAGATTCTTTTTAAATATGAAGCCTGAAATTCAGCCTTCAGATACAAG___CTACCTGTGGCATATTCCACTATCCTATGTCACTGAAGGAAGAAATTATTCAAAATATCAATCGGTATCATTACTGGATAAGAAATCAG___GTGTCATCAATCTTACAGAAGAAGTGCTGTGGGTCAAAGTGAATATAAACATGAATGGTTATTATATTGTACACTATGCAGATGATGATTGGGAAGCACTAATCCATCAGTTGAAAATAAATCCTTATGTTCTGAGTGACAAAGACCGAGCCAACCTTATCAACAACATCTTTGAACTTGCAGG___CCTAGGCAAGGTACCTCTCAAGAGGGCCTTTGATTTGATTAATTATCTTGGAAATGAGAACCATACTGCACCCATCACCGAAGCCCTGTTTCAGACAGACCTCATCTATAACCTCCTTGAAAAACTGGGATACATGGATCTGGC)CTCAAGACTGGTG___ACTAGGGTATTTAAATTACTTCAAAACCAAATTCAACAACAAACTTGGACTGATGAGGGCACTCCATCTATGCGAGAGCTTCGGTCAGCCCTGCTAGAGTTTGCTTGCACCCACAACCTGGGGAACTGCTCTACTACTGCCATGAAACTGTTTGATGACTGGATGGCATCCAATGGAACTCAAAG|GAAGAAGAGAGTGCACCTGATGTAGTAGCCACTGTAAGAACTGTGTTGGAGAATGATCCGATTGGCCAGTGCAAGAGGGATTGCAGAGAAGAAGAAACCACAAGCAGAAAAACCAGATGAG(GAAATTAAGCTAAATATTAACTATCTCAAGAATATTCCCAGAAGTGACTGCTAAATTTAAATCCCTGCTCACAATGAAATACTGTACAGCAGGGGTTCTCAAACTTTTTGGTCTTAGGACCCTTACAGCCTTAAAAATTATTGAGAACTCCAAAGAACTTTCAATTATGTGGGTCATAACTACTGATACTTACTGTATTATAACTTGAAACTGAAAAAATTTTTAAATATTTATAAACATTTAAAAATAATAAACCCATTGTAAGCTAATGTAAATAGCATGTTTTTATTAAAAATCACTTTGTTTTCCAAAGCAAAAAATGTAGTGAGAAGAGAGGCCTTCTTTTACATTTTAATATCTGGCTTATGAGAAAATAGCTGAGTTTCTCATTTCTGCTTCTCCATTTAATCTGTTGGTGTATATT)$ MEPFTNDRLQLPRNMIENSMFEEEPDVVDLAKEPCLHPLEPDEVEYEPRGSRLLVRGLGEHEMEEDEEDYESSAKLLGMSFMNRSSGLRNSATGYRQSPDGACSVPSARTMVVCAFVIVVAVSVIMVIYLLPRCTFTKEGCHKKNQSIGLIQPFATNGKLFPWAQIRLPTAVVPLRYELSLHPNLTSMTFRGSVTISVQALQVTWNIILHSTGHNISRVTFMSAVSSQEKQAEILEYAYHGQIAIVAPEALLAGHNYTLKIEYSANISSSYYGFYGFSYTDESNEKKYFAATQFEPLAARSAFPCFDEPAFKATFIIKIIRDEQYTALSNMPKKSSVVLDDGLVQDEFSESVKMSTYLVAFIVGEMKNLSQDVNGTLVSIYAVPEKIGQVHYALETTVKLLEFFQNYFEIQYPLKKLDLVAIPDFEAGAMENWGLLTFREETLLYDSNTSSMADRKLVTKIIAHELAHQWFGNLVTMKWWNDLWLNEGFATFMEYFSLEKIFKELSSYEDFLDARFKTMKKDSLNSSHPISSSVQSSEQIEEMFDSLSYFKGSSLLLMLKTYLSEDVFQHAVVLYLHNHSYASIQSDDLWDSFNEVTNQTLDVKRMMKTWTLQKGFPLVTVQKKGKELFIQQERFFLNMKPEIQPSDTSYLWHIPLSYVTEGRNYSKYQSVSLLDKKSGVINLTEEVLWVKVNINMNGYYIVHYADDDWEALIHQLKINPYVLSDKDRANLINNIFELAGLGKVPLKRAFDLINYLGNENHTAPITEALFQTDLIYNLLEKLGYMDLASRLVTRVFKLLQNQIQQQTWTDEGTPSMRELRSALLEFACTHNLGNCSTTAMKLFDDWMASNGTQr|kkrvhlm* 01BR017 ENSG00000180385.8 ENSG00000144550.13 +/+ +/+ chr3:9987264 chr3:9714914 exon/splice-site CDS/splice-site duplication 0 5 0 6 23 medium . . |C2_domain(100%),Copine(100%) . . ENSG00000180385.8 ENSG00000144550.13 ENST00000366264.6 ENST00000383832.8 downstream upstream duplicates(1) ^(GGCGTCGGGCCTGGCGGGAAAGTGGAAAACTATCGGCGGTGGCCCAGGCTCGGTGGCTCACTCCTGGAATCCCAGCACTTTGGGAGGCCAAGGTGGGGGGATCACGAGGTCAGGGGATCGAGACCATCCTGGCTAACAGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGAGGCGCCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATTGCTGCACTGCACTCCAGCCTGGGCGACAGAGGAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAA)CTACAGGCGGGGACGGCTTCTCG|AACGGTGAAGATTGATGTGTACGACTGGGACCGGGATGGAAG___CCACGATTTCATTGGTGAGTTCACCACCAGCTACCGGGAGCTGAGCAAGGCCCAGAACCAGTTCACAGTATATGAG___GTTCTTAACCCTCGGAAGAAATGTAAGAAGAAGAAATATGTCAACTCAGGAACT___GTGACGCTGCTCTCCTTCTCTGTGGACTCTGAATTCACTTTTGTTGATTACATCAAGGGAG(G___GACACAGCTGAACTTCACAGTAGCCATTGACTTCACGGCTTCCAATG___GGAATCCTCTGCAGCCTACCTCCCTGCACTACATGAGTCCCTACCAGCTCAGCGCCTATGCCATGGCCCTCAAGGCAGTGGGAGAGATCATCCAGGACTATGACAGTGATAAGCTCTTCCCAGCTTATGGCTTTGGGGCCAAGCTGCCCCCAGAGGGACGGATCTCCCACCAGTTCCCCCTG___AACAACAATGATGAGGACCCCAACTGTGCGGGCATCGAGGGTGTGCTGGAGAGCTATTTCCAGAGCCTGCGCACAGTGCAGCTCTATGGGCCCACCTACTTTGCTCCTGTCATCAACCAAGTGGCCAG___GGCTGCAGCCAAGATCTCTGATGGCTCCCAGTACTATGTTCTGCTCATCATCACTGATGGGGTCATCTCTGACATGACGCAGACCAAGGAGGCCATCGTCAGC___GCCTCCTCATTGCCCATGTCTATCATTATCGTCGGTGTAGGACCAGCCATGTTTGAGG___CAATGGAAGAGTTGGACGGTGATGATGTGCGCGTGTCCTCTAGGGGACGCTACGCAGAGCGGGACATCGTTCAG___TTCGTCCCATTCCGAGACTATGTTGACCGGTCGGGGAACCAGGTGTTGAGCATGGCCCGACTGGCCAAGGATGTGCTGGCCGAGATCCCGGAGCAGCTGCTGTCCTATATGCGCACCAGAGACATCCAGCCTCGGCCCCCACCCCCTGCCAACCCCAGCCCGATCCCAGCTCCAGAGCAGCCCTGAGGATTCCACATATCCAATGCCTCACAGTCTGCAAGCCTGCTCACCCACTGCTTCTGCTTTAAGCCAGAGGCACCTGGAACCCTGGACTTCACTGGGAGGGCCAACTTGGAGGATCAGTGCTGGCTGACAAGCCCTCCGCCTCCTTGCCTGCAGAGGGCCTGGCACTATCACCACCTCTCTGCCTTCATGCCAATAATAAAGCTGATCTTTATTCCA)$ . 01BR017 ENSG00000270547.6 ENSG00000288556.1(91607),ENSG00000205636.3(92173) -/- ./+ chr9:13487967 chr9:13835798 exon/splice-site intergenic inversion 0 4 0 19 11 medium . . . . . ENSG00000270547.6 . ENST00000668698.1 . upstream upstream mismatches(1) ^(GTGCAACACCTGAAATTCCTGGGGCGAATCAAACAGCAAATTAAAGCTCAGACAACCTTCACCTGCAAACCATGCACAGTATAAGGAACTCATTTTAATGTTTTCTGGCT)GAAGTCATAGGGGATAAGAAAACAAAAGAATGGCCACGAAGGAATCCTG|GCAGAAAGGATTTGCCTTGTCTCAGATGAGACTTTGGATGGTGGACTTTTGAGTTAATGCTGAAATGAATGAAGACTTTGGGGGACTGCTGGGAAAGCATGATTGGTTTTGAAATG...___GGTTGTTAGTGGACATCATCtGAGCAAAACTTGAAAAGTGCTTATATGACT . 01BR017 ENSG00000105220.17 ENSG00000169393.9 +/+ +/- chr19:34381519 chr19:48024376 CDS/splice-site intron inversion/3'-3' 4 0 0 324 1 medium out-of-frame . Phosphoglucose_isomerase(100%)| . . ENSG00000105220.17 ENSG00000169393.9 ENST00000415930.8 . downstream downstream . ^(AATAGCCCTTACCACCAGCAGACACACATCATCTGTTGTACTTGCTTATTTGGCACATATGTATCCACAGCGCCTAGAACACTGCCTGTAACGTGGAAGGTGTTCGATCTATAGAGTTTTGTCGAATGAATGAATGAAGCCGACTAGTGCACAGGGAGTGCAGCGGCGCGATGGTAGCTCTCTGCAGCCTCCAACACCTGGGCTCCAGTGATCCCCGGGCTCTGCCCACCCTCCCCACTGCCACTTCCGGGCAGAGGCCAGCAAAGCGGCGGCGCAAGAG___TCCCGCCATGGCCGCTCTCACCCGGGACCCCCAGTTCCAGAAGCTGCAGCAATGGTACCGCGAGCACCGCTCCGAGCTGAACCTGCGCCGCCTCTTCGATGCCAACAAGGACCGCTTCAACCACTTCAG___CTTGACCCTCAACACCAACCATGGGCATATCCTGGTGGATTACTCCAAGAACCTGGTGACGGAGGACGTGATGCGGATGCTGGTGGACTTG___GCCAAGTCCAGGGGCGTGGAGGCCGCCCGGGAGCGGATGTTCAATGGTGAGAAGATCAACTACACCGAG___GGTCGAGCCGTGCTGCACGTGGCTCTGCGGAACCGGTCAAACACACCCATCCTGGTAGACGGCAAGGATGTGATGCCAGAGGTCAACAAGGTTCTGGACAAGATGAAGTCTTTCTGCCAG___CGTGTCCGGAGCGGTGACTGGAAGGGGTACACAGGCAAGACCATCACGGACGTCATCAACATTGGCATTGGCGGCTCCGACCTG___GGACCCCTCATGGTGACTGAAGCCCTTAAGCCATACTCTTCAGGAGGTCCCCGCGTCTGGTATGTCTCCAACATTGATGGAACTCACATTGCCAAAACCCTGGCCCAGCTGAACCCCGAGTCCTCCCTGTTCATCATTGCCTCCAAG___ACCTTTACTACCCAGGAGACCATCACGAA)TGCAGAGACGGCGAAGGtGTGGTTTCTCCAGGCGGCCAAGGAT___CCTTCTGCAGTGGCGAAGCACTTTGTTGCCCTGTCTACTAACACA___ACCAAAGTGAAGGAGTTTGGAATTGACCCTCAAAACATGTTCGAGTTCTGGGAT|ATTCCAGAAGTCACAGAGCAGTGAGGTCAGTTGATCCATGCGGGAGATTTAaAGACCATTTCT MVALCSLQHLGSSDPRALPTLPTATSGQRPAKRRRKSPAMAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFSLTLNTNHGHILVDYSKNLVTEDVMRMLVDLAKSRGVEAARERMFNGEKINYTEGRAVLHVALRNRSNTPILVDGKDVMPEVNKVLDKMKSFCQRVRSGDWKGYTGKTITDVINIGIGGSDLGPLMVTEALKPYSSGGPRVWYVSNIDGTHIAKTLAQLNPESSLFIIASKTFTTQETITNAETAKvWFLQAAKDPSAVAKHFVALSTNTTKVKEFGIDPQNMFEFWD|ipevteq* 01BR017 ENSG00000015475.18 ENSG00000243156.9 -/- -/- chr22:17774381 chr22:17791301 5'UTR/splice-site CDS/splice-site duplication 1 3 0 35 27 medium . . |Protein_of_unknown_function_(DUF3585)(100%) . . ENSG00000015475.18 ENSG00000243156.9 ENST00000622694.4 ENST00000441493.7 upstream downstream . ^(GAAGGAGGAAGCGCGCGGGGCGCCATAAGGAGGAAGCG)GGTAGTCGACCGTGTCCGCGCGCCTGGGAGACGCTGCCTCGGCCCGGACGCGCCCGCGCCCCCGCGGCTGGAGGGTG|GCATGGGCAAGAAGGACGACCCCAAGCTGATGCAGGAGTGGTTCAAGCTAGTGCAGGAGAAGAACGCCATGGTGCGCTACGAGTCGGAGCTGATGATCTT(___TGCCCGGGAGCTGGAGCTGGAAGACCGGCAGAGTCGACTGCAGCAGGAGCTCCGGGAACGCATGGCAGTGGAAG___ATCACCTTAAGACTGAGGAGGAGCTGTCAGAAGAGAAGCAGATTCTCAATGAGATGCTGGAGGTGGTGGAGCAGAGAGACTCACTGGTGGCGCTGCTGGAGGAGCAGCGGCTCCGGGAGAGAGAGGAGGACAAGGACCTGGAGGCTGCCATGCTGTCCAAGGGCTTCAGCCTTAACTGGTCCTGAGCTCCCACCCAACGCTCCATTTTCTGTTGGCATCCGCCTGGCCAGGCAGTGGCATCCAAACCACCCGGAGCCGCGATCTGAGGAGGCCTGGCACCTCCTTGGAGTTTACGCTCAGATGCCCGTGTGCTGCTTGGAAAGTGGTCGAGTCCCGCGTGCAGTGGGGAGCCCCAGGTGACAGTGGTTATCTGAGACGGCTCCACCTCCTGGGAGGAGGCCCACCTGGACCTCCCACTCAGAGGAGCAGCACGGCGTGTATGGCATGACGCAGGGGACCACCCCGCGCGCTCCCTGAGGATGTGCTGGCTGTGCCCCTTTTTTCCACTGGCACATTTGGTAAGAGAGGGAAGCTGCTCCCCGTCAGAACCACAGTGCGCCGTGCGAGGGGCACTGTCTTCTTCATGCTCCCTGGAGCACCACCAAAGAAACGTAAACAATACCCCACGAAAGCAGGGTCAGGGGTCAGGGTGCGATCGAGACCCAGGATGGGGGCGTCCAGTCATGCCCACCCCAGCATCACAGGAGACATGGAGGTGCGGGCAGGCTCCTGAATTATTATGCAAATTAGGAGGACGCAGGAGGGGTCTGCCCTCCAGCCGAACACCACACACTGGACCCTAAGTGGCCAAATGCCTGGGCCGCTTGCTGGCTGTGGCCTGAGGCTTGTGGGTTGCTGCATTTTGCTTGTAGTTCACAACCATTTTGACACTGGAAAATGCTGACTTTGGGGGACAGGATGAGGCCCTACATTCTAAGCCCCCAGTTGGCAGACAGGCATTGTCCCTGTTCCACATTTATGTCGGGACAGGAGATGACCTTTTCCTCCGTGTTTTTCCTGTGTTTGCACGTTGAAATGAAGCTGACAACCTGGCAAGACGCTCAGCCGCTTCAAACCCTTTTTGTCAATTAACTTATTTTTTAATACTTGAAAAGAAGTAACTTCGTTTGTGTATCTTTACTAGAGGAACTGATCACCTGCGCCCGGGTGCGGGAGCCACAGCGGCATCTGGTGCGTCCTACGCGACCTGGTCCGGGGCTGCCCGGTGCTCCTCACGTGCATCTATTTATTAGCCTTTCTCTTCGTATCACTGGCCTGGCTGGCATCAGGGAGCTGCCCAGAACCCCTGTGTGGGTCCTCCTCACAGCTTTCTGTCCCCTCCTCCACCCGGTGCCTGCCTCACCCTGGCGCTAGACCATCTGGACCACTCATGTGATGAGGGTGCATTTCCGTTCTGTTTTGGGCCAGGCCAACAGCAGAGCTGCCACTCTCACCCTCCCAGTGAGAATTCCGGCTCTGCAGAACTCGCCCTTGTCTCAGTTTGGGGGCCAGGGCATCACCTTCCTCCGCACATATGTTAAAGAAGGTTTCAGGATGGGCCCTCATCCACACAGGCCAAGAGGGTGCAAGGTGGGACCCTGGAATCATGTGGCTGGTGAGAATTCCCTCCTCCCAGCCTAAGATTCACCCAGACGGAAACGCGAGTGCTGCAGTGGATGCTGGGATGCAGGCTGGTGCCTCTCAAGCAGATCAGCGACTCCCGCCCTTCCTTCCGAAGGCGACGGGCACCTGCCTTGTGCCGGATCTTCATGGGGACATAAAGGGCGAGCCCCGAATCACTAGCTCCTATAGCCAAACTGTTCCTTTCTCACGGTTCCGCACCAGCCTGGCTGTGTACAGCTCATCAAGCCACTGAGCTAATCGGGGTGGGGTGCTTGTCCATCAAAGCAGTCAGCACATAGCCCAGCGAGGAGCCATCCGGACCAGACCCGCCTGCCAGGGGCGCTCCAGCCGCCTGCCGCCTCCGTGGGCTGGGGCCAGCTGGGAGCAGAGGCCTGGCCCCTCCAAGGCGTCCCGCAGTGGAGCAGGCTGAGTGGCTGTGCTGACCTTGGGCTTTCCATGGGAACCACACTGTGCTTCAACTTGAACATTCATCCCAGCTGCAAAGGAGCAAAGAACCTGTGTCATCCTTGTCTGTCCAGAAGCTGCCATCTCTCTCCCATGCACATCCGGGAGATAACGCCGCTAGTGGCCGCCACAGCGCTGATTCTCCACCTGTTCTCACGTGAGGCAAAGGTCTCCTTTTCTTTTCTCTTTACTTAAAAAAGGGGAGAGGAGGGTTTCTAGATTCCATCTTCAAACCCCAGTCGTCCCATAAAATTGGACGTGGGAAAAGACCTTCACTGCCTGCGTGGCCTTTCCCAGACCTCTCCTCGAATGCCACAAAACCGGTCCAGCCCCGGCAGAGCCGCCTTCGGCCCTTGTAGCTCCTGCTGGCCCCACAACAGGGAAACAGTTTGCAAAGTGGCTTGGAAGGAGTGTGGCCTAGGGATCTGCTGTAAGTGGCCAGACGTAGCAGGAGAGCCCAGTGTCACCTTCTGGTCCTGGTCAGCCTTAACACTGTGGCATCCTCCACAGCACACACGGCAGCCTGCAGTCTGGAAGGTGGACCCGAGCCTTTGCAGAGAGGCGCCGCAGAGCCGCAGGCCTGCGCCCCAGCCTTCTGCTCCCGACTGTGAGGACACCCAGTTCTAGTAGAGCACTTTTTTTAAAGCTCCCATTTTGTAACCACTAGTTTGCGGTTGACTTGAGTACTCTGGTGACTTCCTGCGTCAAGCGTTCTCAAGCTGTGAGAATGTGCGCAGCTCCAGGCAGGTTTTCTCTCGGAGAGTTAAGTCTTCCCTTGAAGGCAGGGAAGCAGGATGGATACACATATATCACACGCATAAAACACCAGGTGCGGGAGCAGCCCAGACTCAAGGCTGACTAAACTGGAGGCTGAATACCGTGGAGGTCCACATGCAGCTTCCCTGGAGGGCAGGCCGGAGGCGCTCCCGCCCCTGGGCTTGAGGATGCTGCACCCCGTGGGCTTCCAGGCCTGCCCAGATGATGCCTTCAGGCCTCTGTCCCTGGCGGCCATCCTCAGGCCGATTTTGACCAGCAATGATAGACTCTTCTTAACCCTTTCAAAATAAATTTTTCAGTGGGACAGAAAGGAGAGTTAAAAAACATTTTTTTAAAGGTGGTAACATCTGACCCACAAAGGGAATGGGTCTGTTTTATGCAAAATAAAAGTTTTTCAAATAAA)$ . 01BR017 ENSG00000015475.18 ENSG00000093100.13 -/- -/- chr22:17774381 chr22:17791301 5'UTR/splice-site exon/splice-site duplication 1 3 0 35 27 medium . . . . . ENSG00000015475.18 ENSG00000093100.13 ENST00000622694.4 ENST00000476405.1 upstream downstream . ^(GAAGGAGGAAGCGCGCGGGGCGCCATAAGGAGGAAGCG)GGTAGTCGACCGTGTCCGCGCGCCTGGGAGACGCTGCCTCGGCCCGGACGCGCCCGCGCCCCCGCGGCTGGAGGGTG|GCATGGGCAAGAAGGACGACCCCAAGCTGATGCAGGAGTGGTTCAAGCTAGTGCAGGAGAAGAACGCCATGGTGCGCTACGAGTCGGAGCTGATGATCTT(___TGCCCGGGAGCTGGAGCTGGAAGACCGGCAGAGTCGACTGCAGCAGGAGCTCCGGGAACGCATGGCAGTGGAAG___ATCACCTTAAGACTGAGGAGGAGCTGTCAGAAGAGAAGCAGATTCTCAATGAGATGCTGGAGGTGGTGGAGCAGAGAGACTCACTGGTGGCGCTGCTGGAGGAGCAGCGGCTCCGGGAGAGAGAGGAGGACAAGGACCTGGAGGCTGCCATGCTGTCCAAGGGCTTCAGCCTTAACTGGTCCTGAGCTCCCACCCAACGCTCCATTTTCTGTTGGCATCCGCCTGGCCAGGCAGTGGCATCCAAACCACCCGGAGCCGCGATCTGAGGAGGCCTGGCACCTCCTTGGAGTTTACGCTCAGATGCCCGTGTGCTGCTTGGAAAGTGGTCGAGTCCCGCGTGCAGTGGGGAGCCCCAGGTGACAGTGGTTATCTGAGACGGCTCCACCTCCTGGGAGGAGGCCCACCTGGACCTCCCACTCAGAGGAGCAGCACGGCGTGTATGGCATGACGCAGGGGACCACCCCGCGCGCTCCCTGAGGATGTGCTGGCTGTGCCCCTTTTTTCCACTGGCACATTTGGTAAGAGAGGGAAGCTGCTCCCCGTCAGAACCACAGTGCGCCGTGCGAGGGGCACTGTCTTCTTCATGCTCCCTGGAGCACCACCAAAGAAACGTAAACAATACCCCACGAAAGCAGGGTCAGGGGTCAGGGTGCGATCGAGACCCAGGATGGGGGCGTCCAGTCATGCCCACCCCAGCATCACAGGAGACATGGAGGTGCGGGCAGGCTCCTGAATTATTATGCAAATTAGGAGGACGCAGGAGGGGTCTGCCCTCCAGCCGAACACCACACACTGGACCCTAAGTGGCCAAATGCCTGGGCCGCTTGCTGGCTGTGGCCTGAGGCTTGTGGGTTGCTGCATTTTGCTTGTAGTTCACAACCATTTTGACACTGGAAAATGCTGACTTTGGGGGACAGGATGAGGCCCTACATTCTAAGCCCCCAGTTGGCAGACAGGCATTGTCCCTGTTCCACATTTATGTCGGGACAGGAGATGACCTTTTCCTCCGTGTTTTTCCTGTGTTTGCACGTTGAAATGAAGCTGACAACCTGGCAAGACGCTCAGCCGCTTCAAACCCTTTTTGTCAATTAACTTATTTTTTAATACTTGAAAAGAAGTAACTTCGTTTGTGTATCTTTACTAGAGGAACTGATCACCTGCGCCCGGGTGCGGGAGCCACAGCGGCATCTGGTGCGTCCTACGCGACCTGGTCCGGGGCTGCCCGGTGCTCCTCACGTGCATCTATTTATTAGCCTTTCTCTTCGTATCACTGGCCTGGCTGGCATCAGGGAGCTGCCCAGAACCCCTGTGTGGGTCCTCCTCACAGCTTTCTGTCCCCTCCTCCACCCGGTGCCTGCCTCACCCTGGCGCTAGACCATCTGGACCACTCATGTGATGAGGGTGCATTTCCGTTCTGTTTTGGGCCAGGCCAACAGCAGAGCTGCCACTCTCACCCTCCCAGTGAGAATTCCGGCTCTGCAGAACTCGCCCTTGTCTCAGTTTGGGGGCCAGGGCATCACCTTCCTCCGCACATATGTTAAAGAAGGTTTCAGGATGGGCCCTCATCCACACAGGCCAAGAGGGTGCAAGGTGGGACCCTGGAATCATGTGGCTGGTGAGAATTCCCTCCTCCCAGCCTAAGATTCACCCAGACGGAAACGCGAGTGCTGCAGTGGATGCTGGGATGCAGGCTGGTGCCTCTCAAGCAGATCAGCGACTCCCGCCCTTCCTTCCGAAGGCGACGGGCACCTGCCTTGTGCCGGATCTTCATGGGGACATAAAGGGCGAGCCCCGAATCACTAGCTCCTATAGCCAAACTGTTCCTTTCTCACGGTTCCGCACCAGCCTGGCTGTGTACAGCTCATCAAGCCACTGAGCTAATCGGGGTGGGGTGCTTGTCCATCAAAGCAGTCAGCACATAGCCCAGCGAGGAGCCATCCGGACCAGACCCGCCTGCCAGGGGCGCTCCAGCCGCCTGCCGCCTCCGTGGGCTGGGGCCAGCTGGGAGCAGAGGCCTGGCCCCTCCAAGGCGTCCCGCAGTGGAGCAGGCTGAGTGGCTGTGCTGACCTTGGGCTTTCCATGGGAACCACACTGTGCTTCAACTTGAACATTCATCCCAGCTGCAAAGGAGCAAAGAACCTGTGTCATCCTTGTCTGTCCAGAAGCTGCCATCTCTCTCCCATGCACATCCGGGAGATAACGCCGCTAGTGGCCGCCACAGCGCTGATTCTCCACCTGTTCTCACGTGAGGCAAAGGTCTCCTTTTCTTTTCTCTTTACTTAAAAAAGGGGAGAGGAGGGTTTCTAGATTCCATCTTCAAACCCCAGTCGTCCCATAAAATTGGACGTGGGAAAAGACCTTCACTGCCTGCGTGGCCTTTCCCAGACCTCTCCTCGAATGCCACAAAACCGGTCCAGCCCCGGCAGAGCCGCCTTCGGCCCTTGTAGCTCCTGCTGGCCCCACAACAGGGAAACAGTTTGCAAAGTGGCTTGGAAGGAGTGTGGCCTAGGGATCTGCTGTAAGTGGCCAGACGTAGCAGGAGAGCCCAGTGTCACCTTCTGGTCCTGGTCAGCCTTAACACTGTGGCATCCTCCACAGCACACACGGCAGCCTGCAGTCTGGAAGGTGGACCCGAGCCTTTGCAGAGAGGCGCCGCAGAGCCGCAGGCCTGCGCCCCAGCCTTCTGCTCCCGACTGTGAGGACACCCAGTTCTAGTAGAGCACTTTTTTTAAAGCTCCCATTTTGTAACCACTAGTTTGCGGTTGACTTGAGTACTCTGGTGACTTCCTGCGTCAAGCGTTCTCAAGCTGTGAGAATGTGCGCAGCTCCAGGCAGGTTTTCTCTCGGAGAGTTAAGTCTTCCCTTGAAGGCAGGGAAGCAGGATGGATACACATATATCACACGCATAAAACACCAGGTGCGGGAGCAGCCCAGACTCAAGGCTGACTAAACTGGAGGCTGAATACCGTGGAGGTCCACATGCAGCTTCCCTGGAGGGCAGGCCGGAGGCGCTCCCGCCCCTGGGCTTGAGGATGCTGCACCCCGTGGGCTTCCAGGCCTGCCCAGATGATGCCTTCAGGCCTCTGTCCCTGGCGGCCATCCTCAGGCCGATTTTGACCAGCAATGATAGACTCTTCTTAACCCTTTCAAAATAAATTTTTCAGTGGGACAGAAAGGAGAGTTAAAAAACATTTTTTTAAAGGTGGTAACATCTGACCCACAAAGGGAATGGGTCTGTTTTATGCAAAATAAAAGTTTTTCAAAT)$ . 01BR017 ENSG00000205133.12 ENSG00000184774.10(4781),ENSG00000214796.8(19822) -/- ./- chr8:92916929 chr1:202832006 CDS/splice-site intergenic translocation 0 3 0 36 7 medium out-of-frame . . . . ENSG00000205133.12 . ENST00000520686.5 . upstream downstream . ^(ACTCCGGCAATTCTGGCCTCTCCAGCCTCTTGCCTTTCTTCTGAGGGGAGCCTTTTATCCTGCTG___TAAGAAAAATCACCAAGAATATTATTTTTGGTATTTGGAATTGAATTTGCCAGGAATGCAAGCACTGCTACCTAACTAAAGACCTTGGCTTTGGAAACATCTTACCCCTTGGCAGCTCTCCAGAGTTTAGACTTGGCAGCATCAAAGACACAACGCAAG___CAGGCATTTTGGAGATCAAAGATGGGTAGAAAAGATGCTGCTACTATAAAACTTC)CTGTTGATCAGTACAGAAAACAAATTG|GTATGGTCTGGCTCTATCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAACCTCTGCCTCCTGGAGTGAAGCCATCCTCCCACCTCAACCTCCCAAGTAGCTGGGACTACAGGCATG MGRKDAATIKLPVDQYRKQI|gmvwlyrpgwsavvgsqltatsaswseailppqppk* 01BR017 ENSG00000127870.17 ENSG00000133119.13 -/- +/- chr13:26215474 chr13:33860649 CDS intron duplication/5'-5' 2 1 0 84 1 medium out-of-frame . . . . ENSG00000127870.17 ENSG00000133119.13 ENST00000381588.9 . upstream downstream . ^(AGTTGCACGGGCGAGCTCCGGGCCGGCTGCGGAGCGACTCCCCGCCGCCAAGTGGGCGGCGTGGCTGTCGGGAAAGAAGGGCTGGGGCCTGCCGTTCTTCCTCCCGAGTATCCCCTCCAGCTGGACGACCCCACGCTGCAGCACGGGCTTCCGGCTTCTCTCCTCAGTGGCCAATTCGAGGGCACAGCGGGCTCCGGAGGCGCGGCGGCAAGCCTATCCCGCCTCCCAACCACAGCCTCCAGCACCCGAGAGAACGGCCGCCCACAGCACACGTTCTCCGGACAGGAGGGCGAAGGCCCAAGACCTGGAGAG___ATGGGCAGCTCTCAAAAAAGGCACAAACAATTGAAGGATGGATACCATGGCATATGTTAAAAGCGTGTTGAAAGGAAAATAAG___AAAGCCAGGAATCTCAGGATGAATCAGTCTAGATCGAGATCAGATGGTGGCAGTGAAGAAACCTTACCTCAAGACCATAATCATCATGAAAATGAGAGAAGATGGCAGCAAGAGCGTCTCCACAGAGAAGAGGCCTATTATCAGTTTATTAATGAACTCAATGATGAAGATTATCGGCTTATGAGAGACCATAATCTTTTAGGCACCCCTG___GAGAAATAACATCAGAAGAACTGCAACAGCGGTTAGATGGCGTCAAGGAACAACTAGCATCTCAGCCTGACTTGAGAGATGGAACGAATTACAGAG___ACTCAGAAGTCCCTAGAGAAAG)TTCACATGAAGATTCTCTTCTAGAATGGTTGAACACCTTTCGGCGCACAGGAAATGCAACTCGAAGTGGACAAAATGGGAACCAAACTTGGAGAGCT|GGAAAGAACGAGTTTCTCTCTCCTCACGGCTGCCTGGGACACATGCGGAGTCGATTGTCACATTAAAAAGCCGAGGGATAAGCAAAAACACATCCAAAGCAGGCAGCCAGAAGGAAGAGAAGTCTGGGGTCCAAGTCACAGGATGCACATTGGAGGCAACTGGGAATGCCTCCTCTGCAGAGGGGACAAGTAAG MNQSRSRSDGGSEETLPQDHNHHENERRWQQERLHREEAYYQFINELNDEDYRLMRDHNLLGTPGEITSEELQQRLDGVKEQLASQPDLRDGTNYRDSEVPRESSHEDSLLEWLNTFRRTGNATRSGQNGNQTWRA|gkneflsphgclghmrsrlsh* 01BR017 ENSG00000136770.11 ENSG00000180398.13 -/- -/- chr10:21882282 chr2:46923181 CDS/splice-site intron translocation 2 1 0 157 5 medium out-of-frame . DnaJ_domain(100%)|EF-hand_domain_pair(100%) . . ENSG00000136770.11 ENSG00000180398.13 ENST00000376980.8 . upstream downstream . ^(ACTGTGCAGCCCAGGCGCCGGGCGCTGCCTCTACAGCTGTGTGTAGGCCTGGGGGCGAGGGTCTTCGGAACGTAGCGCTGGCTGCGGCCCCGCCCGCCTACCCACCCGCCCGTCCGGCAGCCGGCTCCCGCCGCCTCCGCGCTCTGTCTGGGGCCAGCCACCTGGCGGGCCGCTCCGGTGCGCCTGCCCGCGCTTTTCACTGACAGGCGCTGTTCCCCACAGCCAGCGCCGCCCGCCACGTCCCAGCTCTCGGCCAACGGAGCTGCGCGGCGGGTGACCTTTCCGAGCCCAGCGCGATGACGGCTCCTTGCTCCCAGCCGGCGCAGCTTCCTGGACGCCGCCAGCTCGGGCTGGTGCCGTTCCCGCCGCCGCCGCCGCGGACGCCGCTGCTGTGGCTGCTGCTGCTGCTGCTGGCCGCCGTGGCGCCGGCGCGCGGCTGGGAGAGCGGAGACCTGGAGTTGTTTGACTTAGTGGAGGAGGTGCAGCTCAACTTCTACCAGTTCCTCGGGGTGCAGCAG___GATGCATCATCTGCAGACATCAGAAAAGCATATCGTAAGCTTTCACTAACTTTACATCCAGACAAGAATAAAGATGAAAATGCAGAAACTCAGTTTAGACAA___TTGGTGGCCATTTATGAAGTTTTAAAGGATGATGAACGAAGGCAGAG___GTATGATGATATTCTGATCAATGGACTTCCAGATTGGCGACAGCCTGTATTCTACTACAGGCGGGTGAGAAAAATGAGCAATGCTGAGCTGGCATTACTCTTGTTCATTATTCTCACAGTGGGTCATTATGCTGTGGTTTGGTCAATCTACCTGGAAAAACAACTG___GATGAACTACTAAGTAGAAAAAAGAGAGAAAAGAAAAAAAAGACTGGCAGCAAGAGTGTGGATGTATCAAAACTCGGTGCTTCAGAAAAAAATGAAAG___ATTGCTGATGAAACCACAGTGGCATGATTTGCTTCCATGCAAACTGGGGATTTGGTTTTGCCTTACACTAAAAGCATTACCTCACCTCATCCAG___GATGCTGGGCAGTTTTATGCTAAATATAAAGAAACAAGATTGAA)GGAAAAGGAAGATGCACTGACTAGAACTGAACTTGAAACACTTCAAA___AACAGAAGAAAGTTAAAAAACCAAAACCTGAATTTCCTGTATACACACCTTTAGAAACTACATATATTCAGTCTTATGATCATGGAACTTCCATAGAAGAAATTGAGGAACAAATGGATGATTGGTTGGAAAACAGGAACCGAACACAGAAAAAACAG|GGCTTGGAGAGCTTCCAGAGAGCTGAACACATGGAGGCTGACAGGAAGATGAATGAGAAGACATCCACAGGCCAGGAGGGTGGTGCACTCCAACTCCATGGGGACAGAAGCACCTGTGCTCAGGACCCTTCCAGACCTC MTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVEEVQLNFYQFLGVQQDASSADIRKAYRKLSLTLHPDKNKDENAETQFRQLVAIYEVLKDDERRQRYDDILINGLPDWRQPVFYYRRVRKMSNAELALLLFIILTVGHYAVVWSIYLEKQLDELLSRKKREKKKKTGSKSVDVSKLGASEKNERLLMKPQWHDLLPCKLGIWFCLTLKALPHLIQDAGQFYAKYKETRLKEKEDALTRTELETLQKQKKVKKPKPEFPVYTPLETTYIQSYDHGTSIEEIEEQMDDWLENRNRTQKKQ|glesfqraehmeadrkmnektstgqeggalqlhgdrstcaqdpsrp 01BR017 ENSG00000141736.13 ENSG00000205213.14 +/+ -/- chr17:39724010 chr11:27385468 CDS/splice-site CDS/splice-site translocation 2 1 0 6148 48 medium out-of-frame . Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%)|7_transmembrane_receptor_(rhodopsin_family)(100%),Leucine_rich_repeat(100%) . . ENSG00000141736.13 ENSG00000205213.14 ENST00000584601.5 ENST00000379214.9 downstream downstream . ^(AGTACGCAGTCGCGGTACACCGGCTCACGGTCGCCCTGGGAGCCGCTCGCCAGCGCCGCTGCCCCAGCTAGCAGGACCAACCGCGCCGCCAGGCCGGCCATCCTTTCTCCCTGGCTCGCCGCCGGGGGAGGAGCTTAGGAGTATGAAGCTTCCACTTCCGGAGTAACCGGAAGTTCCTGTGTTCTTTATTCTACTCTCCGCTGAAGTCCACACAGTTTAAATTAAAGTTCCCGGATTTTTGTGGGCGCCTGCCCCGCCCCTCGTCCCCCTGCTGTGTCCATATATCGAGGCGATAGGGTTAAGGGAAGGCGGACGCCTGATGGGTTAATGAGCAAACTGAAGTGTTTTCCATGATCTTTTTTGAG___TCGCAATTGAAGTACCACCTCCCGAGGGTGATTGCTTCCCCATGCGGGGTAGAACCTTTGCTGTCCTGTTCACCACTCTACCTCCAGCACAGAATTTGGCTTATG___CCTACTCAATGTGAAGATGATGAGGATGAAAACCTTTGTGATGATCCACTTCCACTTAATGAATG___GTGGCAAAGCAAAGCTATATTCAAGACCACATGCAAAGCTACTCCCTGAGCAAAGAGTCACAGATAAAACGGGGGCACCAGTAGAATGGCCAGGACAAACGCAGTGCAGCACAGAGACTCAGACCCTGGCAGCCATGCCTGCGCAGGCAGTGATGAGAGTGACATGTACTGTTGTGGACATGCACAAAAGTGAG___ATACTTCAAAGATTCCAGAAGATATGCCCCGGGGGTCCTGGAAGCCACAAG___TGTGCACCGGCACAGACATGAAGCTGCGGCTCCCTGCCAGTCCCGAGACCCACCTGGACATGCTCCGCCACCTCTACCAGGGCTGCCAGGTGGTGCAGGGAAACCTGGAACTCACCTACCTGCCCACCAATGCCAGCCTGTCCTTCCTGCAG___GATATCCAGGAGGTGCAGGGCTACGTGCTCATCGCTCACAACCAAGTGAGGCAGGTCCCACTGCAGAGGCTGCGGATTGTGCGAGGCACCCAGCTCTTTGAGGACAACTATGCCCTGGCCGTGCTAGACAATGGAGACCCGCTGAACAATACCACCCCTGTCACAGGGGCCTCCCCAGGAGGCCTGCGGGAGCTGCAGCTTCGAAGCCTCACAG___AGATCTTGAAAGGAGGGGTCTTGATCCAGCGGAACCCCCAGCTCTGCTACCAGGACACGATTTTGTGGAAGGACATCTTCCACAAGAACAACCAGCTGGCTCTCACACTGATAGACACCAACCGCTCTCGGGCCT___GCCACCCCTGTTCTCCGATGTGTAAGGGCTCCCGCTGCTGGGGAGAGAGTTCTGAGGATTGTCAGAGCC___TGACGCGCACTGTCTGTGCCGGTGGCTGTGCCCGCTGCAAGGGGCCACTGCCCACTGACTGCTGCCATGAGCAGTGTGCTGCCGGCTGCACGGGCCCCAAGCACTCTGACTGCCTG___GCCTGCCTCCACTTCAACCACAGTGGCATCTGTGAGCTGCACTGCCCAGCCCTGGTCACCTACAACACAGACACGTTTGAGTCCATGCCCAATCCCGAGGGCCGGTATACATTCGGCGCCAGCTGTGTGACTGCCTGTCCCT___ACAACTACCTTTCTACGGACGTGGGATCCTGCACCCTCGTCTGCCCCCTGCACAACCAAGAGGTGACAGCAGAGGATGGAACACAGCGGTGTGAGAAGTGCAGCAAGCCCTGTGCCCGAG___TGTGCTATGGTCTGGGCATGGAGCACTTGCGAGAGGTGAGGGCAGTTACCAGTGCCAATATCCAGGAGTTTGCTGGCTGCAAGAAGATCTTTGGGAGCCTGGCATTTCTGCCGGAGAGCTTTGATGG___GGACCCAGCCTCCAACACTGCCCCGCTCCAGCCAGAGCAGCTCCAAGTGTTTGAGACTCTGGAAGAGATCACAG___GTTACCTATACATCTCAGCATGGCCGGACAGCCTGCCTGACCTCAGCGTCTTCCAGAACCTGCAAGTAATCCGGGGACGAATTCTGCACAA___TGGCGCCTACTCGCTGACCCTGCAAGGGCTGGGCATCAGCTGGCTGGGGCTGCGCTCACTGAGGGAACTGGGCAGTGGACTGGCCCTCATCCACCATAACACCCACCTCTGCTTCGTGCACACGGTGCCCTGGGACCAGCTCTTTCGGAACCCGCACCAAGCTCTGCTCCACACTGCCAACCGGCCAGAGGACGAGTGTG___TGGGCGAGGGCCTGGCCTGCCACCAGCTGTGCGCCCGAGGGCACTGCTGGGGTCCAGGGCCCACCCAGTGTGTCAACTGCAGCCAGTTCCTTCGGGGCCAGGAGTGCGTGGAGGAATGCCGAGTACTGCAGGG___GCTCCCCAGGGAGTATGTGAATGCCAGGCACTGTTTGCCGTGCCACCCTGAGTGTCAGCCCCAGAATGGCTCAGTGACCTGTTTTGGACCG___GAGGCTGACCAGTGTGTGGCCTGTGCCCACTATAAGGACCCTCCCTTCTGCGTGGCCCGCTGCCCCAGCGGTGTGAAACCTGACCTCTCCTACATGCCCATCTGGAAGTTTCCAGATGAGGAGGGCGCATGCCAGCCTTGCCCCATCAACTGCACCCACTC___CTGTGTGGACCTGGATGACAAGGGCTGCCCCGCCGAGCAGAGAGCCAG___CCCTCTGACGTCCATCATCTCTGCGGTGGTTGGCATTCTGCTGGTCGTGGTCTTGGGGGTGGTCTTTGGGATCCTCATCAAGCGACGGCAGCAGAAGATCCGGAAGTACACGATGCGGAGACTGCTGCAGGAAACGGAG___CTGGTGGAGCCGCTGACACCTAGCGGAGCGATGCCCAACCAGGCGCAGATGCGGATCCTGAAAGAGACGGAGCTGAGGAAGGTGAAGGTG)CTTGGATCTGGCGCTTTTGGCACAGTCTACAAG___GGCATCTGGATCCCTGATGGGGAGAATGTGAAAATTCCAGTGGCCATCAAAGTGTTGAGGGAAAACACATCCCCCAAAGCCAACAAAGAAATCTTAGAC|GCGTTTAGATGCCAACCATATTACCTCAGTCCCCGAGGACAGTTTTGAAGGACTTGTTCAGTTACGGCATCTGTGGCTGGATGACAACAGCTTGACGGAGGTGCCTGTGCACCCCCTCAGCAATCTGCC(CACCCTACAGGCGCTGACCCTGGCTCTCAACAAGATCTCAAGCATCCCTGACTTTGCATTTACCAACCTTTCAAGCCTGGTAGTTCT___GCATCTTCATAACAATAAAATTAGAAGCCTGAGTCAACACTGTTTTGATGGACTAGATAACCTGGAGACCTT___AGACTTGAATTATAATAACTTGGGGGAATTTCCTCAGGCTATTAAAGCCCTTCCTAGCCTTAAAGAGCT___AGGATTTCATAGTAATTCTATTTCTGTTATCCCTGATGGAGCATTTGATGGTAATCCACTCTTAAGAACTAT___ACATTTGTATGATAATCCTCTGTCTTTTGTGGGGAACTCAGCATTTCACAATTTATCTGATCTTCATTCCCT___AGTCATTCGTGGTGCAAGCATGGTGCAGCAGTTCCCCAATCTTACAGGAACTGTCCACCTGGAAAGTCT___GACTTTGACAGGTACAAAGATAAGCAGCATACCTAATAATTTGTGTCAAGAACAAAAGATGCTTAGGACTTT___GGACTTGTCTTACAATAATATAAGAGACCTTCCAAGTTTTAATGGTTGCCATGCTCTGGAAGAAAT___TTCTTTACAGCGTAATCAAATCTACCAAATAAAGGAAGGCACCTTTCAAGGCCTGATATCTCTAAGGATTCT___AGATCTGAGTAGAAACCTGATACATGAAATTCACAGTAGAGCTTTTGCCACACTTGGGCCAATAACTAACCT___AGATGTAAGTTTCAATGAATTAACTTCCTTTCCTACGGAAGGCCTGAATGGGCTAAATCAACTGAAACTTGTGGGCAACTTCAAGCTGAAAGAAGCCTTAGCAGCAAAAGACTTTGTTAACCTCAG___GTCTTTATCAGTACCATATGCTTATCAGTGCTGTGCATTTTGGGGTTGTGACTCTTATGCAAATTTAAACACAGAAGATAACAGCCTCCAGGACCACAGTGTGGCACAGGAGAAAG___GTACTGCTGATGCAGCAAATGTCACAAGCACTCTTGAAAATGAAGAACATAGTCAAATAATTATCCATTGTACACCTTCAACAG___GTGCTTTTAAGCCCTGTGAATATTTACTGGGAAGCTGGATGATTCGTCTTACTGTGTGGTTCATTTTCTTGGTTGCATTATTTTTCAACCTGCTTGTTATTTTAACAACATTTGCATCTTGTACATCACTGCCTTCGTCCAAATTGTTTATAGGCTTGATTTCTGTGTCTAACTTATTCATGGGAATCTATACTGGCATCCTAACTTTTCTTGATGCTGTGTCCTGGGGCAGATTCGCTGAATTTGGCATTTGGTGGGAAACTGGCAGTGGCTGCAAAGTAGCTGGGTTTCTTGCAGTTTTCTCCTCAGAAAGTGCCATATTTTTATTAATGCTAGCAACTGTCGAAAGAAGCTTATCTGCAAAAGATATAATGAAAAATGGGAAGAGCAATCATCTCAAACAGTTCCGGGTTGCTGCCCTTTTGGCTTTCCTAGGTGCTACAGTAGCAGGCTGTTTTCCCCTTTTCCATAGAGGGGAATATTCTGCATCACCCCTTTGTTTGCCATTTCCTACAGGTGAAACGCCATCATTAGGATTCACTGTAACGTTAGTGCTATTAAACTCACTAGCATTTTTATTAATGGCCGTTATCTACACTAAACTATACTGCAACTTGGAAAAAGAGGACCTCTCAGAAAACTCACAATCTAGCATGATTAAGCATGTCGCTTGGCTAATCTTCACCAATTGCATCTTTTTCTGCCCTGTGGCGTTTTTTTCATTTGCACCATTGATCACTGCAATCTCTATCAGCCCCGAAATAATGAAGTCTGTTACTCTGATATTTTTTCCATTGCCTGCTTGCCTGAATCCAGTCCTGTATGTTTTCTTCAACCCAAAGTTTAAAGAAGACTGGAAGTTACTGAAGCGACGTGTTACCAAGAAAAGTGGATCAGTTTCAGTTTCCATCAGTAGCCAAGGTGGTTGTCTGGAACAGGATTTCTACTACGACTGTGGCATGTACTCACATTTGCAGGGCAACCTGACTGTTTGCGACTGCTGCGAATCGTTTCTTTTAACAAAGCCAGTATCATGCAAACACTTGATAAAATCACACAGCTGTCCTGCATTGGCAGTGGCTTCTTGCCAAAGACCTGAGGGCTACTGGTCCGACTGTGGCACACAGTCGGCCCACTCTGATTATGCAGATGAAGAAGATTCCTTTGTCTCAGACAGTTCTGACCAGGTGCAGGCCTGTGGACGAGCCTGCTTCTACCAGAGTAGAGGATTCCCTTTGGTGCGCTATGCTTACAATCTACCAAGAGTTAAAGACTGAACTACTGTGTGTGTAACCGTTTCCCCCGTCAACCAAAATCAGTGTTTATAGAGTGAACCCTATTCTCATCTTTCATCTGGGAAGCACTTCTGTAATCACTGCCTGGTGTCACTTAGAAGAAGGAGAGGTGGCAGTTTATTTCTCAAACCAGTCATTTTCAAAGAACAGGTGCCTAAATTATAAATTGGTGAAAAATGCAATGTCCAAGCAATGTATGATCTGTTTGAAACAAATATATGACTTGAAAAGGATCTTAGGTGTAGTAGAGCAATATAATGTTAGTTTTTTCTGATCCATAAGAAGCAAATTTATACCTATTTGTGTATTAAGCACAAGATAAAGAACAGCTGTTAATATTTTTTAAAAATCTATTTTAAAATGTGATTTTCTATAACTGAAGAAAATATCTTGCTAATTTTACCTAATGTTTCATCCTTAATCTCAGGACAACTTACTGCAGGGCCAAAAAAGGGACTGTCCCAGCTAGAACTGTGAGAGTATACATAGGCATTACTTTATTATGTTTTCACTTGCCATCCTTGACATAAGAGAACTATAAATTTTGTTTAAGCAATTTATAAATCTAAAACCTGAAGATGTTTTTAAAACAATATTAACAGCTGTTAGGTTAAAAAAATAGCTGGACATTTGTTTTCAGTCATTATACATTGCTTTGGTCCAATCAGTAATTTTTTCTTAAGTGTTTTGTGATTACACTACTAGAAAAAAAGTAAAAGGCTAATTGCTGTGTGGGTTTAGTCGATTTGGCTAAACTACTAACTAATGTGGGGGTTTAATAGTATCTGAGGGATTTGGTGGCTTCATGTAATGTTCTCATTAATGAATACTTCCTAATATCGTTGGCTCTACTAATATTTTCCAATTTGCTGGGATGTCACCTAGCAATAGCTTGGATTATATAGAAAGTAAACTGTGGTCAATACTTGCATTTAATTAGACGAAACGGGGAGTAATTATGACACGAAGTACTTATGTTTATTTCTTAGTGAGCTGGATTATCTTGAACCTGTGCTATTAAATGGAAATTTCCATACATCTTCCCCATACTATTTTTTATAAAAGAGCCTATTCAATAGCTCAGAGGTTGAACTCTGGTTAAACAAGATAATATGTTATTAATAAAAATAGAAGAAGAAAGAATAAAGCTTAGTCCTGTGTCTTTAAAAATTAAAAATTTTACTTGATTCCCATCTATGGGCTTTAGACCTATTACTGGGTGGAGTCTTAAAGTTATAATTGTTCAATATGTTTTTTGAACAGTGTGCTAAATCAATAGCAAACCCACTGCCATATTAGTTATTCTGAATATACTAAAAAAATCCAGCTAGATTGCAGTTTAATAATTAAACTGTACATACTGTGCATATAATGAATTTTTATCTTATGTAAATTATTTTTAGAACACAAGTTGGGAAATGTGGCTTCTGTTCATTTCGTTTAATTAAAGCTACCTCCTAAACTATAGTGGCTGCCAGTAGCAGACTGTTAAATTGTGGTTTATATACTTTTTGCATTGTAAATAGTCTTTGTTGTACATTGTCAGTGTAATAAAAACAGAATCTTTGTATATCAAAATCATGTAGTTTGTATAAAATGTGGGAAGGATTTATTTACAGTGTGTTGTAATTTTGTAAGGCCAACTATTTACAAGTTTTAAAAATTGCTATCATGTATATTTACACATCTGATAAATATTAAATCATAACTTGGTAAGAAACTCCTAATTAAAAGGTTTTTTCCAAAATTCAGGTTATTGAAAACTTTTCATTTTATTCATTTAAAAACTAGAATAACAGATATATAAAAGTGTTAATCTTTGTGCTATATGGTATGAAATACAATATTGTACTCAGTGTTTTGAATTATTAAAGTTTCTAGAAAGCAA)$ MKLRLPASPETHLDMLRHLYQGCQVVQGNLELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGTQLFEDNYALAVLDNGDPLNNTTPVTGASPGGLRELQLRSLTEILKGGVLIQRNPQLCYQDTILWKDIFHKNNQLALTLIDTNRSRACHPCSPMCKGSRCWGESSEDCQSLTRTVCAGGCARCKGPLPTDCCHEQCAAGCTGPKHSDCLACLHFNHSGICELHCPALVTYNTDTFESMPNPEGRYTFGASCVTACPYNYLSTDVGSCTLVCPLHNQEVTAEDGTQRCEKCSKPCARVCYGLGMEHLREVRAVTSANIQEFAGCKKIFGSLAFLPESFDGDPASNTAPLQPEQLQVFETLEEITGYLYISAWPDSLPDLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGLALIHHNTHLCFVHTVPWDQLFRNPHQALLHTANRPEDECVGEGLACHQLCARGHCWGPGPTQCVNCSQFLRGQECVEECRVLQGLPREYVNARHCLPCHPECQPQNGSVTCFGPEADQCVACAHYKDPPFCVARCPSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSCVDLDDKGCPAEQRASPLTSIISAVVGILLVVVLGVVFGILIKRRQQKIRKYTMRRLLQETELVEPLTPSGAMPNQAQMRILKETELRKVKVLGSGAFGTVYKGIWIPDGENVKIPVAIKVLRENTSPKANKEILD|afrcqpyylsprgqf* 01BR017 ENSG00000151849.15 ENSG00000205863.11(36011),ENSG00000196593.9(6044) -/- ./+ chr13:24889316 chr13:23933513 CDS/splice-site intergenic inversion 0 2 0 17 5 medium out-of-frame . . . . ENSG00000151849.15 . ENST00000381884.9 . upstream upstream . ^(GGGGCTCCGACAGAGGCGGCGATTGTGGCGGCCCATTTGTAAATGCTGCGGAGATTGAGGTGTCGGTTCGTGCTGCTGAGCTGCCCAGGCTTCACGGAGCG___GTGTTGGAAATCAATAGCTCTTCTAGCCTTTGCATTGTTTAAATATAATAGTGTCATTGGACTAAGATGTTCCTGATGCCAACCTCTTCAGAGTTAAACAGTGGGCAGAACTTCCTAACCCAGTGGATGACCAATCCTTCTCGGGCTGGGGTCATATTAAATCGTGGATTTCCTATTTTGGAAGCAGACAAAGAGAAGCGAGCAGCTGTGGACATTTCTACCAGCTTTCCTATTAAAGGCACACATTTTTCTGATAGCTTCAGCTTTATAAATGAAGAAGATTCACTTCTTGAAGAACAGAAGTTGGAGTCAAACAACCCTTACAAACCACAGTCAGATAAATCTGAAACCCATACAGCCTTTCCTTGCATTAAAAAGGGACCACAGGTAGCGGCATGTCACAGTGCTCCTGGACACCAGGAAGAAAACAAAAATGACTTCATCCCAGATCTTGCGAGTGAATTCAAAGAAGGGGCTTATAAAGACCCACTTTTTAAAAAACTTGAACAG___CTGAAAGAAGTACAACAGAAGAAGCAGGAACAATTGAAGAGGCAACAGTTGGAGCAACTACAGAGACTCATGGAAGAACAAGAGAAGCTGCTCACCATGGTGTCTGGGCAGTGCACACTTCCAG___GTTTGAGTTTACTGCCTGATGATCAGAGCCAGAAGCACAGGTCTCCAGGAAATACCACCACTGGAGAGAGAGCCACATGCTGCTTCCCATCATATGTCTACCCGGACCCAACCCAGGAAGAAACATACCCGTCCAACATTTTATCCCATGAGCAAAGCAACTTCTGTAGAACTGCTCATGGAGATTTTGTCTTAACTTCAAAACGTGCGTCTCCTAATTTATTTTCTGAGGCACAGTATCAAGAAGCACCTGTGGAAAAAAATAATTTAAAAGAAGAAAACCGTAACCATCCTACAG___GAGAAAGTATCTTATGTTGGGAGAAAGTGACAGAACAGATTCAGGAAGCAAATGATAAGAACTTACAAAAACATGATGATTCCTCAGAAGTGGCTAATATTGAAGAAAG___GCCCATTAAAGCTGCTATTGGAGAAAGGAAACAGACCTTTGAAGATTACTTAGAAGAACAAATTCAGTTGGAAGAGCAAGAACTGAAGCAAAAACAGCTGAAG___GAAGCAGAAGGACCATTGCCAATCAAAGCAAAACCAAAACAACCATTTTTAAAACGAGGAGAAGGTTTAGCTAGATTTACTAATGCCAAATCTAAGTTTCAAAAAGGCAAAGAAAGTAAACTAGTGACTAACCAGAGCACTTCCGAGGACCAGCCGCTGTTTAAAATGGATAGACAGCAACTCCAGCGGAAAACCGCTCTTAAAAATAAAGAGCTGTGTGCAGACAACCCTATCCTTAAAAAGGACAGTAAAGCTAGAACCAAGAGTGGTTCTGTCACCCTCAGTCAGAAGCCGAAAATGCTGAAGTGTAGTAACAGGAAAAGTCTTTCTCCGTCAGGATTGAAAATACAGACGGGGAAGAAATGTGATGGGCAGTTTAGAGACCAGATCAAATTTGAAAACAAAGTCACATCTAATAATAAAGAAAATGTAACTGAGTGTCCAAAACCTTGCGATACTGGCTGCACAGGGTGGAATAAGACACAAGGTAAAGACAGACTTCCTCTTTCAACAGGGCCGGCCAGCCGGCTGGCTGCTAAGAGCCCCATAAGGGAGACCATGAAAGAGTCTGAATCTTCTCTTGACGTTTCTCTTCAGAAAAAGTTAGAGACTTGGGAACGAGAAAAGGAAAAGGAAAATTTGGAATTAGATGAATTTTTGTTTTTAGAACAAGCTGCTGATGAAATATCATTTTCTAGTAATTCCTCATTTGTACTGAAAATCTTAGAAAGGGATCAACAGATCTGCAAAGGTCACCGGATGTCTTCCACCCCTGTCAAAGCTGTGCCACAGAAGACAAATCCGGCAGATCCCATTAGTCATTGTAACCGCAGTGAGGATTTGGACCACACTGCACGTGAGAAGGAGAGTGAGTGTGAAGTCGCACCCAAACAACTTCATTCATTGTCCTCAGCTGATGAATTGAGGGAACAGCCTTGTAAAATCAGGAAAGCCGTCCAAAAGAGCACTTCTGAAAATCAGACTGAATGGAATGCACGTGACGATGAAGGTGTTCCAAATAGTGACAGTAGCACTGACTCTGAGGAACAGCTTGATGTTACCATAAAACCATCGACTGAGGATAGAGAGAGGGGCATCAGCAGCAGAGAGGATAGCCCACAAGTCTGTGATGATAAGGGGCCTTTTAAGGACACCAGGACCCAAGAAGATAAAAGGAGAGATGTTGATCTGGATTTGTCTGATAAAGATTACAGTAGCGATGAGTCTATCATGGAAAGCATAAAACATAAAGTGTCTGAGCCCTCGAGATCCTCATCCCTAAGTCTGAGTAAAATGGACTTTGATGATGAAAGAACTTGGACTGACCTTGAAGAGAATTTGTGTAACCATGATGTTGTTCTTGGGAATGAATCCACTTATGGGACGCCGCAGACATGCTACCCTAATAATGAAATAGGTATCCTGGACAAAACAATAAAAAGGAAGATTGCACCAGTCAAGAGGGGAGAAGACTTGAGCAAGTCCAGGAGGAGCAGAAGTCCTCCTACATCGGAGCTGATGATGAAATTCTTTCCTTCTTTGAAACCAAAACCAAAGTCAGATTCACACTTGGGAAATGAACTCAAGTTAAACATAAGTCAAGACCAACCACCTG___GTGACAATGCTCGATCCCAGGTTTTGAGAGAGAAAATTATTGAATTGGAAACAGAAATAGAAAAGTTTAAAGCTGAGAACGCATCTTTAGCTAAACTTCGCATTGAACGAGAAAGTGCCTTGGAAAAACTCAG___GAAAGAAATTGCAGACTTCGAACAACAGAAAGCAAAAGAATTAGCTCGAATAGAAGAGTTTAAAAAGGAGGAGATGAGGAAGCTACAAAAGGAACGTAAAGTTTTTGAAAAGTATACTACAGCTGCAAGAACTTTTCCAGATAAAAAGGAACGTGAAGAAATACAG___ACTTTAAAACAGCAAATAGCAGATTTACGGGAAGATTTGAAAAGAAAGGAAACCAAATGGTCAAGTACACACAGCCGTCTCAGAAGCCAGATACAAATGTTAGTCAGAGAGAACACAGACCTCCGGGAAGAAATAAAAGTGATGGAAAGATTCCGACTGGATGCCTGGAAGAGAGCAGAAGCCATAGAGAGCAGCCTCGAGGTGG)AGAAGAAGGACAAGCTTGCG___AcCACATCTGTTCGATTTCAAAACAGTCAGATTTCTTCAGGAACCCAGGTAGAAAAATACAAGAAAAATTATCTTCCAATGCAAG|GTGCTGCTGAATTTGAATCTGAGTCCTCTATATGGAATCTATCCTCTTCTGCAGGATCTACTCAGGATCTGCTGATGAGTTACATCTAAATCAAGTTTGAA...GCATCATGtGAATATGCAACAATTTTTTTTTTTTTTGAGATGGAGTTTCACTCGTTTTGACCAGGCTGGAGTGCAATGGCTGGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGCTCAAGTGATTCTCCTGCCTCAACCTCCGAAGTAGC MFLMPTSSELNSGQNFLTQWMTNPSRAGVILNRGFPILEADKEKRAAVDISTSFPIKGTHFSDSFSFINEEDSLLEEQKLESNNPYKPQSDKSETHTAFPCIKKGPQVAACHSAPGHQEENKNDFIPDLASEFKEGAYKDPLFKKLEQLKEVQQKKQEQLKRQQLEQLQRLMEEQEKLLTMVSGQCTLPGLSLLPDDQSQKHRSPGNTTTGERATCCFPSYVYPDPTQEETYPSNILSHEQSNFCRTAHGDFVLTSKRASPNLFSEAQYQEAPVEKNNLKEENRNHPTGESILCWEKVTEQIQEANDKNLQKHDDSSEVANIEERPIKAAIGERKQTFEDYLEEQIQLEEQELKQKQLKEAEGPLPIKAKPKQPFLKRGEGLARFTNAKSKFQKGKESKLVTNQSTSEDQPLFKMDRQQLQRKTALKNKELCADNPILKKDSKARTKSGSVTLSQKPKMLKCSNRKSLSPSGLKIQTGKKCDGQFRDQIKFENKVTSNNKENVTECPKPCDTGCTGWNKTQGKDRLPLSTGPASRLAAKSPIRETMKESESSLDVSLQKKLETWEREKEKENLELDEFLFLEQAADEISFSSNSSFVLKILERDQQICKGHRMSSTPVKAVPQKTNPADPISHCNRSEDLDHTAREKESECEVAPKQLHSLSSADELREQPCKIRKAVQKSTSENQTEWNARDDEGVPNSDSSTDSEEQLDVTIKPSTEDRERGISSREDSPQVCDDKGPFKDTRTQEDKRRDVDLDLSDKDYSSDESIMESIKHKVSEPSRSSSLSLSKMDFDDERTWTDLEENLCNHDVVLGNESTYGTPQTCYPNNEIGILDKTIKRKIAPVKRGEDLSKSRRSRSPPTSELMMKFFPSLKPKPKSDSHLGNELKLNISQDQPPGDNARSQVLREKIIELETEIEKFKAENASLAKLRIERESALEKLRKEIADFEQQKAKELARIEEFKKEEMRKLQKERKVFEKYTTAARTFPDKKEREEIQTLKQQIADLREDLKRKETKWSSTHSRLRSQIQMLVRENTDLREEIKVMERFRLDAWKRAEAIESSLEVEKKDKLAtTSVRFQNSQISSGTQVEKYKKNYLPMQ|gaaefesessiwnlsssagstqdllmsyi* 01BR017 ENSG00000131591.17 ENSG00000242485.6 -/- -/- chr1:1105956 chr1:1405886 5'UTR/splice-site CDS/splice-site duplication 1 1 0 10 586 medium . . |Ribosomal_protein_L20(100%) . . ENSG00000131591.17 ENSG00000242485.6 ENST00000379319.5 ENST00000344843.12 upstream downstream . ^(GGTAGAGGGATCAAGTTGTCTTCAATTTTATCTCCTCTGCTGACTTTTTAGTTCTGCCTCTTTGTGTTGTTTTTTAA)GTGGTTCCTCTGGAGATTAAATGTACTTCACAGAACCTCAGCGAGCGGACTCCAGTTATATTCCGTGCTCTTGTCGGCACGCATTTCACTTCTAG|CTCTGGATTAATCGAATTACAGCTGCTAGCCAGGAACATGGACTGAAGTATCCAGCGCTCATTGGGAATTTAGTTAAG___TGCCAGGTGGAGCTCAAC(AGGAAAGTCCTAGCGGATCTGGCCATCTACGAGCCAAAGACTTTCAAATCTTTGGCTGCCTTGGCCAGTAGGAGGCGACACGAAGGATTTGCTGCTGCCTTGGGGGATGGGAAGGAACCTGAAGGCATTTTTTCCAGAGTGGTGCAGTACCACTGAGGACTGTTGCTGTATTGATTAGGAAAAGAGACAGAGTAATTTGCAGTTTGTTTGATTTATACTTTTGTTTATCTACAACCCAATAACAGACATGAGGGATGGCCCTGTCTCTCTGGGACAGAGCCTCACAGATGATGTCCATGTTTTGTGTGAATGAAACTCAAACACTCTTCA)$ . 01BR018 ENSG00000167978.17 ENSG00000173482.16 +/+ +/+ chr16:2770465 chr18:8394476 CDS/splice-site CDS/splice-site translocation 16 14 0 351 137 high in-frame . cwf21_domain(100%)|Protein-tyrosine_phosphatase(100%) . . ENSG00000167978.17 ENSG00000173482.16 ENST00000301740.13 ENST00000332175.12 downstream upstream duplicates(1),inconsistently_clipped(1),mismatches(1) ^(GTGCTGACGTGCAGCGCGGCCCAGGCGGGGTGCGAGTGGCGCAGTTGGAGCCCGTTGCGGCCCCTGAGGAAGCGAGGAGGCGTCGGCGTCGGCTGAGGCGGGCGGACCGGCGAGGCGAGGCGGCGGCCCCAGGCCCGAGGGACTCGGGAGCTCGAGCAGCGGCGGCGGCAAGACCTCTCCCCCTCGGAGGCGGCGGGCGGAGGCGGCGG___GAGCGGTGGTGCCCCCCCCGGGCACGGGGCCATGTACAACGGGATCGGGCTGCCGACGCCCCGGGGCAGCGGCACCAACGGCTACGTCCAGCGCAACCTGTCCCTGGTGCGGGGCCGCCGGGGTGAGCGGCCTGACTACAAGGGAGAGGAGGAACTGCGGCGCCTGGAGGCTGCCCTGGTGAAGCGGCCTAATCCTGACATCCTGGACCACGAGCGCAAGCGGCGCGTCGAGCTGCGATGCCTCGAGCTGGAGGAGATGATGGAAGAGCAGGG___GTACGAGGAACAGCAAATTCAGGAAAAAGTGGCGACCTTTCGACTCATGTTGCTGGAGAAGGATGTGAACCCTGGGGGCAAGGAGGAGACCCCAGGGCAGAGGCCAGC___GGTCACGGAGACTCACCAGTTGGCAGAATTAAATGAGAAGAAGAATGAAAGACTCCGTGCTGCCTTTGGCATCAGTGATTCTTACGTAGATGGCAGCTCTTTTGATCCTCAGCGTCGTGCCCGAGAAGCTAAACAACCAGCTCCTGAGCCTCCCAAACCTTACAG___CCTTGTTCGGGAGTCTAGCAGTTCTCGCTCACCAACCCCAAAGCAGAAGAAGAAGAAAAAGAAGAAAGATAGAGGACG___CAGGTCAGAGAGCAGCTCTCCTCGACGGGAGAGAAAGAAAAGCTCAAAGAAGAAGAAGCACAG___GTCAGAATCTGAGTCCAAGAAACGTAAGCATAG___GTCTCCCACTCCAAAGAGCAAACGTAAATCTAAGGACAAAAAGCGAAAGCG___GTCTCGAAGTACAACACCAGCCCCCAAGAGCCGCCGGGCCCACCGTTCAACTTCTGCTGACTCTGCTTCCTCCTCCGATACTTCCCGCAGTCG___GTCTCGAAGTGCTGCAGCTAAAACTCATACAACTGCCTTGGCTGGGCGAAGTCCTTCCCCTGCTTCAGGGCGACGCGGGGAGGGAGATGCGCCTTTCAGTGAACCAGGTACTACCAGCACACAACGGCCTAGTAGCCCGGAGACTGCTACGAAACAGCCTAGCAGCCCTTATGAAGACAAAGATAAAGACAAGAAGGAG___AAATCTGCAACTCGACCTAGCCCCTCTCCGGAAAGGAGCAGCACAGGCCCAGAACCACCTGCTCCCACTCCGCTCCTTGCTGAGCGACATGGCGGCTCCCCACAACCCCTTGCAACCACCCCCTTAAGCCAGGAGCCAGTGAACCCCCCATCTGAGGCCTCTCCAACTCGGGACCGTTCACCACCTAAGTCTCCCGAGAAACTTCCCCAGTCTTCTTCCTCAGAGAGCAGCCCACCATCCCCTCAACCTACCAAAGTTTCTCGGCATGCCAGCTCTTCCCCAGAAAGTCCTAAACCTGCTCCAGCTCCAGGGTCCCACCGAGAGATTTCTTCTTCTCCCACATCTAAGAATCGCTCACATGGCCGAGCAAAACGGGATAAATCACATTCTCATACCCCCTCCCGTAGGATGGGGAGGTCCCGTAGCCCTGCCACCGCTAAGAGAGGGCGATCTCGGTCTCGAACCCCTACCAAGAGAGGTCATTCTCGATCCCGATCTCCCCAGTGGCGTAGGTCCAGGTCTGCACAGAGGTGGGGAAGATCTAGAAGCCCCCAGCGACGTGGCCGCTCTAGGTCTCCTCAGCGACCAGGCTGGTCTAGGAGCAGAAATACCCAGAGAAGAGGCAGGTCTAGGTCAGCAAGGCGAGGGAGGTCCCACTCTAGATCCCCAGCCACTAGGGGTAGATCTCGTTCTAGAACACCAGCCCGCCGGGGCAGGTCCCGCTCTAGAACACCTGCCAGGCGGAGATCACGATCCAGAACTCCCACCAGGCGTAGGTCTCGGTCTAGAACACCAGCCCGGAGGGGCAGGTCTCGGTCTAGAACACCTGCTAGGCGCAGATCTAGGACCCGATCACCAGTACGACGCAGGTCTCGTAGTAGATCACCAGCCAGGAGAAGTGGCAGGTCACGCTCTAGAACCCCAGCTAGACGTGGCCGCTCACGCTCCAGAACCCCAGCCAGACGTGGCCGCTCACGCTCTAGAACCCCAGCTAGACGCAGTGGTCGCTCACGCTCCAGAACACCAGCCAGGAGAGGGAGGTCTCGGTCTAGGACACCAAGACGAGGAAGATCCCGCAGTAGAAGCTTAGTTAGACGTGGAAGATCTCACTCTAGAACACCTCAAAGAAGAGGCAGATCTGGCTCATCTTCAGAGCGGAAAAACAAATCCAGAACATCTCAAAGAAGAAGCAGGTCCAATTCAAGCCCAGAAATGAAGAAATCTCGCATTTCTTCAAGGCGGAGCAGGTCTCTCTCTTCACCACGGTCCAAAGCAAAATCTCGCTTGTCTTTGAGGCGCAGCCTTTCAGGGTCTTCCCCATGCCCTAAACAAAAGTCACAGACACCACCCAGGCGCAGTCGCTCTGGATCCTCCCAACCTAAAGCTAAATCTAGAACGCCACCCAGACGCAGTCGCTCCAGTTCTTCTCCGCCACCTAAACAGAAATCTAAGACACCATCAAGACAAAGTCATTCCAGTTCATCTCCTCATCCTAAAGTGAAATCTGGAACACCACCGAGGCAAGGGTCCATAACAAGTCCCCAGGCCAATGAGCAATCTGTAACGCCACAGAGACGGAGCTGTTTTGAATCATCACCTGACCCTGAGTTGAAATCTAGGACCCCTTCTAGACATAGCTGCTCAGGGTCCTCTCCTCCTAGAGTGAAATCTAGCACACCTCCCAGACAGAGCCCATCTAGGTCATCATCTCCACAACCCAAAGTGAAGGCAATAATATCACCAAGACAAAGAAGCCATTCTGGCTCCTCTTCTCCAAGTCCTAGTAGGGTGACGTCGAGAACAACTCCACGGCGAAGCAGATCAGTATCTCCCTGCTCCAATGTGGAATCCAGATTGTTGCCAAGATACAGTCATTCTGGGTCCTCCTCACCAGATACCAAAGTGAAACCTGAAACACCGCCAAGACAAAGTCACTCAGGGTCTATTTCACCATACCCCAAAGTAAAGGCCCAAACTCCACCGGGGCCAAGTCTTTCTGGATCAAAGTCACCATGTCCCCAAGAGAAGTCTAAAGACTCACTAGTTCAAAGTTGCCCTGGATCCCTCTCTCTCTGTGCAGGAGTAAAATCTAGCACACCACCAGGCGAGAGCTATTTTGGTGTCTCATCTCTGCAACTGAAAGGACAATCTCAAACTTCACCAGACCACAGATCTGATACTTCAAGTCCAGAAGTGAGACAGAGTCATTCAGAATCACCATCTCTGCAGAGCAAATCTCAAACATCACCTAAGGGAGGTCGGTCCAGGTCTTCATCTCCAGTCACTGAGCTGGCATCCAGATCTCCAATAAGACAAGATAGAGGTGAGTTCTCAGCGAGTCCTATGTTGAAATCTGGAATGTCTCCTGAGCAGAGCAGGTTCCAGTCTGACTCTTCTTCATATCCTACAGTGGACTCGAATTCTCTCTTGGGGCAGAGTAGATTGGAGACTGCTGAATCAAAAGAGAAAATGGCCTTACCCCCTCAGGAGGATGCTACTGCATCACCTCCTAGACAGAAAGACAAATTTAGTCCCTTTCCAGTACAGGATAGGCCTGAGTCTTCACTGGTATTCAAAGACACACTTAGAACCCCGCCAAGGGAAAGAAGTGGTGCTGGGTCATCTCCAGAAACAAAAGAGCAAAATAGTGCATTGCCTACGTCAAGCCAAGATGAAGAGTTAATGGAGGTGGTAGAGAAGTCTGAAGAACCCGCAGGCCAAATCCTGTCTCATTTGTCTTCAGAACTTAAAGAAATGTCCACAAGTAACTTTGAATCATCTCCTGAAGTAGAAGAAAGGCCTGCTGTGTCTTTGACTCTTGATCAGAGCCAGTCACAGGCTTCTTTGGAAGCAGTAGAAGTCCCTTCAATGGCCTCATCTTGGGGTGGGCCACATTTTTCTCCAGAACATAAAGAACTGTCTAACTCCCCACTCAGGGAGAACAGCTTTGGATCACCTTTAGAATTTAGAAACTCAGGCCCACTTGGTACAGAAATGAATACTGGATTTTCTTCTGAGGTTAAAGAAGATTTGAATGGACCGTTTCTTAATCAGCTGGAAACAGATCCATCTCTAGACATGAAAGAACAATCGACAAGATCCTCTGGACACAGCAGTTCTGAGTTATCCCCAGATGCAGTGGAAAAGGCAGGGATGTCTTCAAATCAGAGCATCTCTTCACCTGTGCTTGATGCTGTACCCAGAACACCCTCGAGAGAAAGAAGTAGTTCTGCATCTTCTCCTGAAATGAAAGATGGTTTACCCAGAACTCCATCAAGGAGAAGCAGGTCTGGGTCTTCTCCAGGACTTAGAGATGGGTCTGGGACTCCCTCGAGGCACAGCCTGTCTGGGTCCTCTCCTGGAATGAAAGATATACCTAGAACGCCATCTAGAGGGAGAAGCGAATGTGATTCTTCCCCAGAACCGAAAGCTTTGCCTCAGACTCCTAGGCCGAGGAGTCGTTCTCCATCATCCCCAGAGCTCAACAACAAGTGTCTTACCCCCCAGAGAGAAAGAAGCGGGTCAGAATCATCAGTTGATCAGAAAACTGTGGCTCGGACTCCCCTGGGGCAGAGAAGTCGTTCGGGATCCTCTCAAGAACTTGATGTGAAACCCAGTGCATCCCCTCAGGAAAGAAGTGAGTCAGACTCTTCTCCAGATTCTAAAGCCAAGACAAGAACCCCACTTCGGCAGAGGAGTCGGTCTGGATCATCTCCAGAGGTTGACAGCAAATCTCGACTATCCCCTCGGCGCAGTAGGTCTGGTTCCTCCCCTGAAGTGAAAGATAAGCCAAGAGCAGCACCCAGGGCACAGAGTGGTTCTGATTCCTCTCCTGAACCTAAAGCTCCAGCCCCTCGGGCCCTTCCCAGACGAAGCAGATCAGGTTCATCAAGCAAAGGCAGAGGCCCTTCTCCTGAAGGAAGCAGCAGTACCGAGTCCTCTCCTGAACATCCGCCCAAATCCAGAACTGCTCGCAGAGGTTCCAGGTCATCACCAGAGCCCAAGACCAAGTCTCGTACACCACCTCGACGTCGCAGCTCTCGATCATCTCCGGAGCTAACAAGGAAGGCCAGACTGTCCCGTAGAAGCCGCTCTGCCTCATCCTCACCAGAAACTCGCTCTAGAACTCCCCCAAGGCACCGGAGAAGTCCCTCAGTGTCTTCCCCGGAGCCAGCCGAAAAATCGAGGTCTTCACGCCGACGGCGCTCAGCTTCATCTCCACGCACTAAGACAACCTCAAGGAGAGGCCGCTCTCCTTCGCCAAAGCCTCGTGGACTCCAGAGGTCCCGTTCCCGCTCAAGGAGAGAGAAAACAAGAACAACCCGACGTCGAGATAGGTCTGGATCTTCTCAGTCAACCTCTCGGCGAAGACAGCGGAGCCGGTCAAGGTCGCGGGTTACTCGGCGGCGGAGGGGAGGCTCTGGTTATCACTCAAGGTCACCTGCCCGGCAGGAAAGTTCCCGGACCTCCTCTCGACGCCGAAGAGGCCGCTCTCGGACACCCCCAACCAGTCGGAAGCGTTCTCGCTCACGCACATCACCAGCCCCGTGGAAACGCTCTAGATCTCGAGCCTCTCCAGCCACTCACCGGCGATCCAGGTCCAGAACCCCCCTGATAAGCCGACGTAGGTCCAGATCTCGAACTTCACCAGTCAGCCGGAGACGGTCAAGGTCCAGGACTTCAGTGACTCGACGAAGATCCCGGTCAAGAGCATCCCCAGTGAGCAGAAGGCGATCCAGATCCAGAACGCCACCAGTAACCCGCCGTCGTTCAAGGTCTAGAACGCCAACAACACGCCGCCGCTCCCGTTCTAGAACTCCACCAGTGACTCGCAGAAGGTCCAGATCCAGGACTCCACCAGTAACCAGGAGGCGATCTCGAAGCAGAACTTCGCCTATCACTCGCAGAAGATCAAGATCCAGAACATCTCCGGTCACCCGAAGGAGATCTCGATCTCGCACATCTCCAGTAACTCGAAGAAGGTCCCGCTCTCGAACCTCACCAGTGACACGCCGCCGCTCTAGGTCCCGGACACCTCCAGCTATTCGGCGCCGCTCTAGATCTCGAACGCCACTGTTACCACGCAAACGTTCTCGAAGTCGCTCACCACTTGCTATCCGCCGCCGCTCCAGATCCCGTACTCCACGAACAGCTCGGGGTAAACGGTCCTTAACAAGATCTCCTCCAGCCATCCGCAGGCGTTCTGCATCTGGAAGTAGTTCTGATCGTTCACGATCTGCTACTCCTCCAGCAACAAGAAATCATTCTGGTTCACGGACACCTCCAGTAGCACTCAACAGTTCCAGAATGAGCTGCTTCAGTCGTCCTAGCATGTCCCCAACACCTCTTGATCGCTGCAGATCACCTGGAATGCTTGAACCCCTTGGCAGCTCTAGAACACCCATGTCTGTCCTGCAGCAAGCCGGCGGCTCCATGATGGATGGTCCAGGTCCCCGAATACCTGACCACCAGAGAACATCTGTGCCAGAAAATCATGCTCAGTCCAGGATTGCACTTGCCCTGACAGCTATCAGTCTTGGCACCGCTCGGCCTCCTCCGTCCATGTCTGCTGCTGGCCTTGCTGCAAGAATGTCCCAGGTTCCAGCCCCGGTGCCTCTCATGAGTCTCAGAACCGCACCAGCAGCCAACCTTGCCAGCAGGATTCCTGCAGCCTCTGCGGCAGCCATGAACCTAGCCAGCGCCAGGACACCTGCCATTCCAACAGCAGTGAACCTGGCTGACTCTCGAACGCCAGCTGCAGCAGCGGCCATGAACTTGGCCAGCCCCAGAACAGCGGTGGCACCTTCGGCTGTGAACCTGGCTGACCCTCGCACTCCCACAGCCCCAGCTGTGAACCTAGCAGGGGCCAGAACCCCAGCTGCCTTGGCAGCTCTGAGTCTCACAGGCTCTGGCACACCACCAACTGCTGCAAACTATCCCTCCAGCTCCAGAACACCACAGGCTCCAGCCTCTGCAAACCTGGTGGGTCCTCGGTCTGCACATGCCACAGCTCCTGTGAATATTGCCGGCTCCAGAACCGCCGCAGCCTTGGCCCCCGCGAGCCTCACCAGTGCTAGGATGGCTCCAGCATTGTCTGGTGCAAACCTCACCAGCCCCAGGGTGCCCCTTTCTGCCTACGAGCGTGTCAGTGGCAGAACCTCACCACCGCTCCTTGACCGAGCTAGGTCCAGAACACCACCGTCTGCCCCAAGCCAATCTAGGATGACCTCTGAACGGGCTCCCTCCCCTTCCTCTAGAATGGGCCAGGCTCCTTCACAGTCTCTTCTCCCTCCAGCACAGGATCAGCCGAGGTCTCCTGTGCCTTCTGCTTTTTCAGACCAATCCCGTTGTTTGATTGCCCAGACCACCCCTGTAGCAGGGTCTCAGTCCCTTTCCTCTGGGGCAGTGGCAACGACCACGTCCTCTGCTGGTGATCACAATGGCATGCTCTCTGTCCCTGCCCCTGGGGTGCCCCACTCTGATGTGGGGGAGCCACCTGCCTCTACTGGGGCCCAGCAGCCTTCTGCATTAGCCGCCCTGCAGCCAGCAAAGGAGCGGCGGAGTTCCTCCTCGTCGTCGTCGTCCTCTAGCTCCTCCTCTTCTTCATCATCGTCGTCGTCGTCCTCCTCCTCCTCTGGCTCCAGTTCTAGTGACTCAGAGGGCTCTAGCCTTCCTGTGCAACCTGAGGTGGCACTGAAGAG___GGTCCCCAGCCCCACCCCAGCCCCAAAGGAGGCTGTTCGAGAGGGACGTCCTCCGGAGCCAACCCCAGCCAAACGGAAGAGGCGCTCTAGCAGTTCCAGTTCCAGCTCCTCCTCTTCATCTTCCTCCTCCTCCTCCTCCTCCTCTTCTTCCTCCTCCTCTTCCTCTT)CTTCTTCTTCCTCCTCATCTTCCTCCTCCTCGTCGTCTTCCTCCCCTTCCCCTGCTAAGCCTGGCCCTCAGGCCTTGCCCAAACCTGCAAGCCCCAAGAAGCCACCCCCTGGCGAGCGGAG___GTCCCGCAGCCCCCGGAAGCCAATAGACTCCCTCAGGGACTCTCGGTCCCTCAGCTACTCGCCTGTGGAGCGTCGCCGTCCCTCGCCCCAGCCCTCACCACGGGACCAGCAGAG|GAACGGGGGAGGCCGCAGTGGGACGTTCTGCGCCATCAGCATCGTATGTGAGATGCTCCGGCACCAGAGAACCGTGGATGTCTTTCACGCTGTGAAGACACTGAGGAACAACAAGCCCAACATGGTCGACCTCCTG___GATCAGTACAAGTTCTGCTACGAGGTGGCCCTGGAATACTTGAATTCTGGCTGATGGTGTAAACAGCTCTGCAAACAATCCCTTTCATACCACAAAGCCAAGACGTTCCATGGTATTTGTGCAAAAGAGAT(GAAGACTTCTCAATATGCTTATTTTGCTTTGCATAATTGGCTCTTTTTAAGAGCCCAAGAAAGTGTTTCTAAAATTGCTTGCACTGCCCAATCCCAGTAATGCTGCTGCCTGACAGAAACACACACACAGCCACAGTTGCCAAATCCCGTACTCCTTGCCACCGGCTTCCTAGAGCAGCGTAGACAGCTGGTAAACTGAAGAGCACAACTATATTCTTATGAAGGAATTTGTACCTTTGGGGTATTATTTTGTGGCCCGTGACCCTCGTTATTGTTACAGCTGAGTGTATGTTTTTGTTCTGTGGAGAATGCTATCTGGCATTATGGTAATATATTATTTTAGGTAATATTTGTACTTTAACATGTTGCATAATATATGCTTATGTAGCTTTCCAGGACTAACAGATAAATGTGTAATGAACAAAGATATGTTGTATGAGTCGTCGTTTCTGTCAGATTTGTATTGTTTCCAAGGGAAAAGCTTGGGGGAGGACTCAGTTCACAAAATGCAAAACTCAACGATCAGATTCACGGACCCAGAGCTTTTCCATGTGTTTATATTGTAAATATTTTTGATTTCATCAAATTATTTATTCATTAAAAGAAATTTTTGTGAAGCACA)$ MYNGIGLPTPRGSGTNGYVQRNLSLVRGRRGERPDYKGEEELRRLEAALVKRPNPDILDHERKRRVELRCLELEEMMEEQGYEEQQIQEKVATFRLMLLEKDVNPGGKEETPGQRPAVTETHQLAELNEKKNERLRAAFGISDSYVDGSSFDPQRRAREAKQPAPEPPKPYSLVRESSSSRSPTPKQKKKKKKKDRGRRSESSSPRRERKKSSKKKKHRSESESKKRKHRSPTPKSKRKSKDKKRKRSRSTTPAPKSRRAHRSTSADSASSSDTSRSRSRSAAAKTHTTALAGRSPSPASGRRGEGDAPFSEPGTTSTQRPSSPETATKQPSSPYEDKDKDKKEKSATRPSPSPERSSTGPEPPAPTPLLAERHGGSPQPLATTPLSQEPVNPPSEASPTRDRSPPKSPEKLPQSSSSESSPPSPQPTKVSRHASSSPESPKPAPAPGSHREISSSPTSKNRSHGRAKRDKSHSHTPSRRMGRSRSPATAKRGRSRSRTPTKRGHSRSRSPQWRRSRSAQRWGRSRSPQRRGRSRSPQRPGWSRSRNTQRRGRSRSARRGRSHSRSPATRGRSRSRTPARRGRSRSRTPARRRSRSRTPTRRRSRSRTPARRGRSRSRTPARRRSRTRSPVRRRSRSRSPARRSGRSRSRTPARRGRSRSRTPARRGRSRSRTPARRSGRSRSRTPARRGRSRSRTPRRGRSRSRSLVRRGRSHSRTPQRRGRSGSSSERKNKSRTSQRRSRSNSSPEMKKSRISSRRSRSLSSPRSKAKSRLSLRRSLSGSSPCPKQKSQTPPRRSRSGSSQPKAKSRTPPRRSRSSSSPPPKQKSKTPSRQSHSSSSPHPKVKSGTPPRQGSITSPQANEQSVTPQRRSCFESSPDPELKSRTPSRHSCSGSSPPRVKSSTPPRQSPSRSSSPQPKVKAIISPRQRSHSGSSSPSPSRVTSRTTPRRSRSVSPCSNVESRLLPRYSHSGSSSPDTKVKPETPPRQSHSGSISPYPKVKAQTPPGPSLSGSKSPCPQEKSKDSLVQSCPGSLSLCAGVKSSTPPGESYFGVSSLQLKGQSQTSPDHRSDTSSPEVRQSHSESPSLQSKSQTSPKGGRSRSSSPVTELASRSPIRQDRGEFSASPMLKSGMSPEQSRFQSDSSSYPTVDSNSLLGQSRLETAESKEKMALPPQEDATASPPRQKDKFSPFPVQDRPESSLVFKDTLRTPPRERSGAGSSPETKEQNSALPTSSQDEELMEVVEKSEEPAGQILSHLSSELKEMSTSNFESSPEVEERPAVSLTLDQSQSQASLEAVEVPSMASSWGGPHFSPEHKELSNSPLRENSFGSPLEFRNSGPLGTEMNTGFSSEVKEDLNGPFLNQLETDPSLDMKEQSTRSSGHSSSELSPDAVEKAGMSSNQSISSPVLDAVPRTPSRERSSSASSPEMKDGLPRTPSRRSRSGSSPGLRDGSGTPSRHSLSGSSPGMKDIPRTPSRGRSECDSSPEPKALPQTPRPRSRSPSSPELNNKCLTPQRERSGSESSVDQKTVARTPLGQRSRSGSSQELDVKPSASPQERSESDSSPDSKAKTRTPLRQRSRSGSSPEVDSKSRLSPRRSRSGSSPEVKDKPRAAPRAQSGSDSSPEPKAPAPRALPRRSRSGSSSKGRGPSPEGSSSTESSPEHPPKSRTARRGSRSSPEPKTKSRTPPRRRSSRSSPELTRKARLSRRSRSASSSPETRSRTPPRHRRSPSVSSPEPAEKSRSSRRRRSASSPRTKTTSRRGRSPSPKPRGLQRSRSRSRREKTRTTRRRDRSGSSQSTSRRRQRSRSRSRVTRRRRGGSGYHSRSPARQESSRTSSRRRRGRSRTPPTSRKRSRSRTSPAPWKRSRSRASPATHRRSRSRTPLISRRRSRSRTSPVSRRRSRSRTSVTRRRSRSRASPVSRRRSRSRTPPVTRRRSRSRTPTTRRRSRSRTPPVTRRRSRSRTPPVTRRRSRSRTSPITRRRSRSRTSPVTRRRSRSRTSPVTRRRSRSRTSPVTRRRSRSRTPPAIRRRSRSRTPLLPRKRSRSRSPLAIRRRSRSRTPRTARGKRSLTRSPPAIRRRSASGSSSDRSRSATPPATRNHSGSRTPPVALNSSRMSCFSRPSMSPTPLDRCRSPGMLEPLGSSRTPMSVLQQAGGSMMDGPGPRIPDHQRTSVPENHAQSRIALALTAISLGTARPPPSMSAAGLAARMSQVPAPVPLMSLRTAPAANLASRIPAASAAAMNLASARTPAIPTAVNLADSRTPAAAAAMNLASPRTAVAPSAVNLADPRTPTAPAVNLAGARTPAALAALSLTGSGTPPTAANYPSSSRTPQAPASANLVGPRSAHATAPVNIAGSRTAAALAPASLTSARMAPALSGANLTSPRVPLSAYERVSGRTSPPLLDRARSRTPPSAPSQSRMTSERAPSPSSRMGQAPSQSLLPPAQDQPRSPVPSAFSDQSRCLIAQTTPVAGSQSLSSGAVATTTSSAGDHNGMLSVPAPGVPHSDVGEPPASTGAQQPSALAALQPAKERRSSSSSSSSSSSSSSSSSSSSSSSSSGSSSSDSEGSSLPVQPEVALKRVPSPTPAPKEAVREGRPPEPTPAKRKRRSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSPSPAKPGPQALPKPASPKKPPPGERRSRSPRKPIDSLRDSRSLSYSPVERRRPSPQPSPRDQQr|NGGGRSGTFCAISIVCEMLRHQRTVDVFHAVKTLRNNKPNMVDLLDQYKFCYEVALEYLNSG* 01BR018 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 19 8 0 142 73 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAAT)GGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR018 ENSG00000069667.16 ENSG00000128915.12 -/- -/- chr15:60531766 chr15:60423762 CDS/splice-site CDS/splice-site deletion/read-through 7 14 0 64 183 high in-frame . Zinc_finger__C4_type_(two_domains)(100%)| . . ENSG00000069667.16 ENSG00000128915.12 ENST00000449337.6 ENST00000261520.9 upstream downstream duplicates(1),mismappers(4),mismatches(2) ^(TCTCGGCGGGCGGGCAGCTGCGGCAGCTGCTGCTGTGGCTCGGGCGGCGGCGGCGCGGCGGCGGCAGAGGGGGCTCCGGGGTCGGACCATCC)GCTCTCCCTGCGCTCTCCGCACCGCGGCTTAAATGATGTATTTTGTGATCGCAGCGATGAAAG___CTCAAATTGAAATTATTCCATGCAAGATCTGTGGAGACAAATCATCAGGAATCCATTATGGTGTCATTACATGTGAAGGCTGCAAG|ATTGGTGGAACGAGAATGCCTACACGCAGCCACAGGAATCCAGTTTCCATGGAAACCAAAAGCAGTTGCTTGCCTGCTCAGCAAGTTGAAACTGAAGGAGTGGCTCCACATAAAAGAAAAATAACTTGAGGACTGTACCATGGAAAACTAAATTTAAAAAAcCAGTTATAACAGTGTTTAATTTAGATAAGTTTGAGGGAAAATAATCAGTAGGCAAGAGGAACATTTTTCCTGTA(GTAGCTAGAGTGCCTTGAAAAAATGTGTTGGCTATGTGAAGGAATATTTCAACTAAAATGGAATGGTATGCTTTTCACCCTTGAAGTTTGAGGAGGATCTTGATATGTTTTAACATTATCATGGCAGGGAAATATATAAAGAAGAAAAATATTTTTACATTAAACCTTTTCTAAAAATTGTAAATAGAAAAATAATTTGGTTTTTTATCAAGAACAACACTTATCGTTATGTATTGTGTTAGTTATATTGCCAGTCTGTTGCGACTGACTCAAAAAGTTAAATGTTGCCACTGCTGAAGATGATTATGAGCATCGCAAACTTTGTTTCTGACCCATTTTGACAGTTTTTATATACTCCTTTAAAATGATGAATGTTACAGGTTAATAAAGTTAATACCTTTAAAAACTTGGTGAAATTCCATTACAGAAGCCAAAAATAAAAACTCCCTGCCTCTGAAAAGTCAGATTACTGACTTCTTGTTTGGCAACCATCAGTTTGTTTAATAAAAGAAAAAATTTGGTGGTATAACATGTTTGATGACAGATGCCTCTATCTCTAGATTCAAGCTGAGTGTTGAAATACACTGCTGAAAGCAAAGAGATAGGTATGTTTTCCAGAAAAAAAGTCAGTGTCATTGCTCCAGATGACAAGGTTAATGTGGTAAAGCATAAGCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACCACAACATCCACCTCCTGGATTAAAGCGATTCTCCTGCCTCATCCTCCCGAGTAGCTGGGACTACAGGCACCTACCACCAGGCTTGGCTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTGTTACCATGTTGGCCGGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGGTAAGCCACCGTGCCTGGCCAGCATAAGCTATTTTTATCCTCATCTATACTGATTGATTTAAATTTTCCGGGCCTGCAGATGAATTTGGAAAAGGGCATAATCAACTGATGTTGCTGTAGCAAATTTGGACTTAAGAAACTACAGACAGGGCCGGGCGTGGTGGCTCACACCTGTAATTCCAGCACTTCGCAAGGCCGAGGCGGGAGAATCACTTGAGTCCAGGGGTTGGAGACCAGTCTGGGCAACACAGACCTCATCTCTACAAATAAAAAAGTTAGCCGGGTGTGGTGGGGTGTGCCTGTAGTCCCAGCTACTCAAAAGGCTGAGGCAGAAGAATTGCTTGAGCCCAAGAAGTCAAGGCTACAGTGAGTTGTGATCGCACCACAGAACTCAGCTTGAGTATCAGAGTGTGACCCTGTCTCAAAGAAAAAAAAAAACAGGACAGGCTTGTTTAATCTTTAGAACCCTTACACTAAAATTTTCAGAAATTATGTATGTCATTTGTAAAATATAAGTTTTGTAATCCTAGATAATTGCTTCACATTGAAATTTTTTAGCTATTCTGTGTAAAGAATAGCTATTCTTTTGGCCTAATTTCTGAGAAATTAGACCGAAAAATCTCCTCAAGTATTGTAACAGTTGAAAATACTTATATTCAACTACCAAGTTTTGTTTCATTTTGATTTTTTGTTATAAAACATTTTTAAGTTATTTGAGAAGTAATTATTAGTAAAATTGTATCTTGATAAATCATTTCCTCATCCTGCCATTCCCTTTTATAAAACACTGAGTTTTTTTATTCCTTAAGTCACATATCCCAGAAATGTTTTGGTTGTGAATCATTTGCCAGCGAGCCAAGGGAGAGGCAGGGATTCCCTTGAAATGTACTCTTACACTTTTTTATTTTATTTTTAATGTACATTTGTGTGCACCAGAATGGAATGTGCTCTTTTTAAAGAGCTGGACAGTGGTTGCTTCAGACTTCTGAATACCAGAAAGACTTGCCTTTTAATTTTTAAATATTACTTTTTACATCATAAAATGTGTTATCTTATCCATGTATTTGAATAACATCATATATAAAGGTAGTTTTTTGCTTGTGCTTAGTGAAGCCTCCTTTTTTAACATACATTTGATATGCTTTATGTTCTTTTTCTTGATTTTTAGTACTGAGAATTTATAAGCCAAGAAGTAACTGACAATATGTTTAGCAGGATGTAATCCCAGCTACTTGGGAAGCTGAGGTGGGAGGATCGCTTGAGTCTAGGAGTTTGAGGCTGCAGTGAGCTATGATGGTGCCACTGCACTCCATCCTGGGTGAGAGATCAAGACCCTATCTCAAAAAATGAGCAAGTTTTTTTTTTTTTTTTAAATCAGACTTAGGGCTAGCAAGGATGTGATCACCCTGGCCCATTTATACCTCAGCAGTGAAGGTGTAATTTATACACACCTCTTTGAAAACAGTTTAATTCAGTAAGTGAGTGCAACTATGTGCCATGCACTCCAAAGTAGGTCCCCACAGTTATTCTCTCATAGCCTTGTTTTTTCAGATCTCACCATATTTATTTGTTTCTTTGATTTTCTTTTCTTATAGATTACAAGCTCTGCAAGGACAGGGGCATATTTGTTTTGTTCACCATTAAGTAATAAACACCTAATACAGTGCCTGTCATGTAGTTGCTTAGCAGATATTAGTTAGATGCATGAATGTGTAGGTATCAAAGATTTTTTTTTTCAGGAGATCACATTCTAGTGGAAGACACTATACTGCTTTATGTGATAAGTGCTTTGATAAAGTAAGCAAGTCATCTAACCAGATCTTGGTAGTTAAGGTTTTCTGAGATAGAACTTGAGCTGAGTCTTTTAAAAATAGTAGGATTTATAAGGGAAAATTAAAGGTCTTCCACAAAGAAACTAAGTGAAACTAAGCAGCCTATGAAAAGGTGAAAGTTGGAGAGATTATAGGCTATGAACATGGGAGATGAGAGAGAAAACTGCAGGATAGGGACAGAAACACTGTGCTAAGACATTTGAACTTTGTCCTGTGCAATGTGGGAACCAGTAGTGAAGGTTAATTAACTGACATGATCAGATATGTATTTGAAAAGGGCTCTTGTTGGCATTAGTCTAGAGAATGCGATGGAGCTGGGAAGCGAAAGAAGAAATGTTGGGAGCCTGTGTTGTAGTAACTGAAAAATGGCAATGGCCCAGAATTAAAGCAGCAAGAATAGGAGTGGGCTCAAGTGATGTATAAGGAAAAAAAAAAAAATGACAACTCAGTTTTGTTGTTGGTAAGGAGAGTAAAGTATGGCTTCTGGGTTTCTCATTTGAGATACTGAGTAAATGATGGTGTTAACCCATTGAGAAAATAGTGTGGTTAGAGTGGGAAGAAAGTTAATTTAAAATGTTCATTTTTTTTTTTAGTCATTTCTACTTTTGGATTCTAGGTTTGTGTGCTATATTGGTTATAACCAATTTGCTGAATAATAAATTATCCCAAAACTTAGCTACTTAAAACAACAAACATTATCTCACAGTTTCTGTAAGTCAAAAGTCCAGGTCTCTCATGAAGTTGCAGTCAGGCTCTTGGCTAGGGCTGCAGTCATCTGAAGGATTAGTAAGTCGCTAAGCCCACACTTAAGCTCCACCCTTGAAGGGAGAAGTTTGGAAAGAATTTGTGAACATATTTTTAAATCACATATGCTATGAACAGGTTTAGGGGAGGGAGAGGAAAGAAAACTTTAACTTTTCATTAGCATACTGCATCTGTAGTTCCTAATGGGCATGTTGTAAAGATGTTAAGACGTTTTCTATGCATTATAGGTATATAGTAGTATTTTGTTTTGTTCTGTTTTTTTGTTTGGTATGTAGTAGTTTTTAATCAAACCTTAACGTATTTGATATTAAGATTTATTGAGTTTCTTGTTGAGATGTAGAAATAAAGGGGATCCATTTCATTTATCCA)$ MMYFVIAAMKAQIEIIPCKICGDKSSGIHYGVITCEGCK|IGGTRMPTRSHRNPVSMETKSSCLPAQQVETEGVAPHKRKIT* 01BR018 ENSG00000069667.16 ENSG00000128915.12 -/- -/- chr15:60531766 chr15:60428687 CDS/splice-site CDS/splice-site deletion/read-through 7 7 0 64 124 high out-of-frame . Zinc_finger__C4_type_(two_domains)(100%)| . . ENSG00000069667.16 ENSG00000128915.12 ENST00000449337.6 ENST00000261520.9 upstream downstream low_entropy(1),mismatches(1) ^(TCTCGGCGGGCGGGCAGCTGCGGCAGCTGCTGCTGTGGCTCGGGCGGCGGCGGCGCGGCGGCGGCAGAGGGGGCTCCGGGGTCGGACCAT)CCGCTCTCCCTGCGCTCTCCGCACCGCGGCTTAAATGATGTATTTTGTGATCGCAGCGATGAAAG___CTCAAATTGAAATTATTCCATGCAAGATCTGTGGAGACAAATCATCAGGAATCCATTATGGTGTCATTACATGTGAAGGCTGCAAG|CTTGCAGGAGGGTTCCTACTTGTTATCTCATGCAGCAGAAGATTCTTCACTCCTGATTTATAAGGCCTCTGATGGAAAAGTTACTAGGACAGCATACAATTTGTATAAAACACATTGCGGCCTTCCTGGTGTACCTTCCAGTCTCTCAGTTCCCTGGGTCCCATTAGATCCCAGCCTGTTATTACCATATCATATCCATCATGGAAGAATACCTTGTACTTTTCCACCGAAATCAC(TGGATACCACAACACAACAAAAG___ATTGGTGGAACGAGAATGCCTACACGCAGCCACAGGAATCCAGTTTCCATGGAAACCAAAAGCAGTTGCTTGCCTGCTCAGCAAGTTGAAACTGAAGGAGTGGCTCCACATAAAAGAAAAATAACTTGAGGACTGTACCATGGAAAACTAAATTTAAAAAAACAGTTATAACAGTGTTTAATTTAGATAAGTTTGAGGGAAAATAATCAGTAGGCAAGAGGAACATTTTTCCTGTAGTAGCTAGAGTGCCTTGAAAAAATGTGTTGGCTATGTGAAGGAATATTTCAACTAAAATGGAATGGTATGCTTTTCACCCTTGAAGTTTGAGGAGGATCTTGATATGTTTTAACATTATCATGGCAGGGAAATATATAAAGAAGAAAAATATTTTTACATTAAACCTTTTCTAAAAATTGTAAATAGAAAAATAATTTGGTTTTTTATCAAGAACAACACTTATCGTTATGTATTGTGTTAGTTATATTGCCAGTCTGTTGCGACTGACTCAAAAAGTTAAATGTTGCCACTGCTGAAGATGATTATGAGCATCGCAAACTTTGTTTCTGACCCATTTTGACAGTTTTTATATACTCCTTTAAAATGATGAATGTTACAGGTTAATAAAGTTAATACCTTTAAAAACTTGGTGAAATTCCATTACAGAAGCCAAAAATAAAAACTCCCTGCCTCTGAAAAGTCAGATTACTGACTTCTTGTTTGGCAACCATCAGTTTGTTTAATAAAAGAAAAAATTTGGTGGTATAACATGTTTGATGACAGATGCCTCTATCTCTAGATTCAAGCTGAGTGTTGAAATACACTGCTGAAAGCAAAGAGATAGGTATGTTTTCCAGAAAAAAAGTCAGTGTCATTGCTCCAGATGACAAGGTTAATGTGGTAAAGCATAAGCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACCACAACATCCACCTCCTGGATTAAAGCGATTCTCCTGCCTCATCCTCCCGAGTAGCTGGGACTACAGGCACCTACCACCAGGCTTGGCTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTGTTACCATGTTGGCCGGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGGTAAGCCACCGTGCCTGGCCAGCATAAGCTATTTTTATCCTCATCTATACTGATTGATTTAAATTTTCCGGGCCTGCAGATGAATTTGGAAAAGGGCATAATCAACTGATGTTGCTGTAGCAAATTTGGACTTAAGAAACTACAGACAGGGCCGGGCGTGGTGGCTCACACCTGTAATTCCAGCACTTCGCAAGGCCGAGGCGGGAGAATCACTTGAGTCCAGGGGTTGGAGACCAGTCTGGGCAACACAGACCTCATCTCTACAAATAAAAAAGTTAGCCGGGTGTGGTGGGGTGTGCCTGTAGTCCCAGCTACTCAAAAGGCTGAGGCAGAAGAATTGCTTGAGCCCAAGAAGTCAAGGCTACAGTGAGTTGTGATCGCACCACAGAACTCAGCTTGAGTATCAGAGTGTGACCCTGTCTCAAAGAAAAAAAAAAACAGGACAGGCTTGTTTAATCTTTAGAACCCTTACACTAAAATTTTCAGAAATTATGTATGTCATTTGTAAAATATAAGTTTTGTAATCCTAGATAATTGCTTCACATTGAAATTTTTTAGCTATTCTGTGTAAAGAATAGCTATTCTTTTGGCCTAATTTCTGAGAAATTAGACCGAAAAATCTCCTCAAGTATTGTAACAGTTGAAAATACTTATATTCAACTACCAAGTTTTGTTTCATTTTGATTTTTTGTTATAAAACATTTTTAAGTTATTTGAGAAGTAATTATTAGTAAAATTGTATCTTGATAAATCATTTCCTCATCCTGCCATTCCCTTTTATAAAACACTGAGTTTTTTTATTCCTTAAGTCACATATCCCAGAAATGTTTTGGTTGTGAATCATTTGCCAGCGAGCCAAGGGAGAGGCAGGGATTCCCTTGAAATGTACTCTTACACTTTTTTATTTTATTTTTAATGTACATTTGTGTGCACCAGAATGGAATGTGCTCTTTTTAAAGAGCTGGACAGTGGTTGCTTCAGACTTCTGAATACCAGAAAGACTTGCCTTTTAATTTTTAAATATTACTTTTTACATCATAAAATGTGTTATCTTATCCATGTATTTGAATAACATCATATATAAAGGTAGTTTTTTGCTTGTGCTTAGTGAAGCCTCCTTTTTTAACATACATTTGATATGCTTTATGTTCTTTTTCTTGATTTTTAGTACTGAGAATTTATAAGCCAAGAAGTAACTGACAATATGTTTAGCAGGATGTAATCCCAGCTACTTGGGAAGCTGAGGTGGGAGGATCGCTTGAGTCTAGGAGTTTGAGGCTGCAGTGAGCTATGATGGTGCCACTGCACTCCATCCTGGGTGAGAGATCAAGACCCTATCTCAAAAAATGAGCAAGTTTTTTTTTTTTTTTTAAATCAGACTTAGGGCTAGCAAGGATGTGATCACCCTGGCCCATTTATACCTCAGCAGTGAAGGTGTAATTTATACACACCTCTTTGAAAACAGTTTAATTCAGTAAGTGAGTGCAACTATGTGCCATGCACTCCAAAGTAGGTCCCCACAGTTATTCTCTCATAGCCTTGTTTTTTCAGATCTCACCATATTTATTTGTTTCTTTGATTTTCTTTTCTTATAGATTACAAGCTCTGCAAGGACAGGGGCATATTTGTTTTGTTCACCATTAAGTAATAAACACCTAATACAGTGCCTGTCATGTAGTTGCTTAGCAGATATTAGTTAGATGCATGAATGTGTAGGTATCAAAGATTTTTTTTTTCAGGAGATCACATTCTAGTGGAAGACACTATACTGCTTTATGTGATAAGTGCTTTGATAAAGTAAGCAAGTCATCTAACCAGATCTTGGTAGTTAAGGTTTTCTGAGATAGAACTTGAGCTGAGTCTTTTAAAAATAGTAGGATTTATAAGGGAAAATTAAAGGTCTTCCACAAAGAAACTAAGTGAAACTAAGCAGCCTATGAAAAGGTGAAAGTTGGAGAGATTATAGGCTATGAACATGGGAGATGAGAGAGAAAACTGCAGGATAGGGACAGAAACACTGTGCTAAGACATTTGAACTTTGTCCTGTGCAATGTGGGAACCAGTAGTGAAGGTTAATTAACTGACATGATCAGATATGTATTTGAAAAGGGCTCTTGTTGGCATTAGTCTAGAGAATGCGATGGAGCTGGGAAGCGAAAGAAGAAATGTTGGGAGCCTGTGTTGTAGTAACTGAAAAATGGCAATGGCCCAGAATTAAAGCAGCAAGAATAGGAGTGGGCTCAAGTGATGTATAAGGAAAAAAAAAAAAATGACAACTCAGTTTTGTTGTTGGTAAGGAGAGTAAAGTATGGCTTCTGGGTTTCTCATTTGAGATACTGAGTAAATGATGGTGTTAACCCATTGAGAAAATAGTGTGGTTAGAGTGGGAAGAAAGTTAATTTAAAATGTTCATTTTTTTTTTTAGTCATTTCTACTTTTGGATTCTAGGTTTGTGTGCTATATTGGTTATAACCAATTTGCTGAATAATAAATTATCCCAAAACTTAGCTACTTAAAACAACAAACATTATCTCACAGTTTCTGTAAGTCAAAAGTCCAGGTCTCTCATGAAGTTGCAGTCAGGCTCTTGGCTAGGGCTGCAGTCATCTGAAGGATTAGTAAGTCGCTAAGCCCACACTTAAGCTCCACCCTTGAAGGGAGAAGTTTGGAAAGAATTTGTGAACATATTTTTAAATCACATATGCTATGAACAGGTTTAGGGGAGGGAGAGGAAAGAAAACTTTAACTTTTCATTAGCATACTGCATCTGTAGTTCCTAATGGGCATGTTGTAAAGATGTTAAGACGTTTTCTATGCATTATAGGTATATAGTAGTATTTTGTTTTGTTCTGTTTTTTTGTTTGGTATGTAGTAGTTTTTAATCAAACCTTAACGTATTTGATATTAAGATTTATTGAGTTTCTTGTTGAGATGTAGAAATAAAGGGGATCCATTTCATTTATCCA)$ MMYFVIAAMKAQIEIIPCKICGDKSSGIHYGVITCEGCK|laggfllviscsrrfftpdl* 01BR018 ENSG00000109861.16 ENSG00000266573.6 -/- +/+ chr11:88334937 chr18:24909788 CDS/splice-site exon/splice-site translocation 5 13 1 374 47 high out-of-frame . Cathepsin_C_exclusion_domain(100%)| . . ENSG00000109861.16 ENSG00000266573.6 ENST00000227266.10 ENST00000657601.1 upstream upstream . ^(ACCGCTAGCCCGCAGCGCTCGGCTTCCTGGTAATTCTTCACCTCTTTTCTCAGCTCCCTGCAGCATGGGTGCTGGGCCCTCCTTGCTGCTCGCCGCCCTCCTGCTGCTTCTCTCCGGCGACGGCGCCGTGCGCTGCGACACACCTGCCAACTGCACCTATCT)TGACCTGCTGGGCACCTGGGTCTTCCAGGTGGGCTCCAGCGGTTCCCAGCGCGATGTCAACTGCTCGGTTATGG___GACCACAAGAAAAAAAAGTAGTGGTGTACCTTCAGAAGCTGGATACAGCATATGATGACCTTGGCAATTCTGGCCATTTCACCATCATTTACAACCAAGGCTTTGAGATTGTGTTGAATGACTACAAGTGGTTTGCCTTTTTTAAG|GGGCCATCCATGGAGGGCTGGATGGTGTCCTCACTCTCCCATCACACAGCTCTTCTGATGATGTTTTTGCTTGTCTTTCTGGAAGTTCGCTCTGATCCAAAATTACATCTGCAAGGGGCAGCTGAAGTCCATCAGTTCTGTGAAGTCTTCTGGGAGTTGCCTCAGCCTAGAGATCTCTTCCTCCATTTCTCCAAATATTTCAGTTAGCTCTAAATGAACAATTAGCATCTCCTAATTGTGCAACTATTTAATTTTGGTTTCC(TCAACCAAGGAGTTAATCCCTTTCTGAGGGCAGGTACTGTCAACTTCTTTTGATTTTTCTACACTGCATGTGGCCATCCCAGATAACTCACTAACAATAAATTCTTGATGACATGACTCTACATGGTAAGACGGCACTACTCACTTGCCAAGAGCCAAACAGATATTTTGGAATCATTTCCCAGATAGTGATAAAAAATGGGCACAGACCATTTGTAATCTTTCATCCCATCTTCCTTTTGACTAGTGTCATCCCTGTAAACCATGAGTGATCAGGATTACATCTCTACATTCAGCAGGAGTAGAATAGAATTTCCATTTGCACACAAAACTGACTCACTGAGAGCAATTTAGTGATCTCAGTAGATGGGCCTGCTGCATGGAAAGGCAGCCAACAGATGGGGAGTGTCCCTATCTTAGCCAGAGGAGGGGAAAGTATGGGATTCAATCTGTTTCTTTAAAAGCTGAAGGATAAACTGAAGATGATGTTCATAAAAACTGTATTTCCATTGTTAAGGAGAAAAATAGATAGGTAAGCTCAGCCCTCTTTTGATAAAAGTTGAACAGAGAGGTGAAAAAGGGAATCCATTTGTTTATGCACTTATCCTAAAGAGAACATTGAAAGTCAAGGGGGTATGTCCAGTGGTTTGCAAAGTGGTGTCTCCAGGGGACATTTACAGTCAATGTCATCTACAGAAAGTTGCTGTCTTTGCTATAGTGAAGGGCAAATCATCTCCCAATTGCGCTGCTTTTCAAGATTCCATGAGGAGCTCTACTCTTGAAAATTTCTGAATCAAAATAGAATCTTAAGGAGTCTAATTCTAAATACAAACTTCATGTGTAAGATTCTCGCCATGGCTGTATGGCAGGTTTTTAAAGAAAGTATGAGAATGGTGTATTTTATCCAAGTGCTTGTTGCTGTTTTGCTCACTGGTGTCCTAAGCACCTAGAAAAGTCCTTGGCAGTTTTTAGGTGCACAATAAGTATTTAATTTTATTATTCCTAAATTATTGGTTCGATGATTGGGTGTATACAAGTGCATATGTGGATATGTGCATTTGAATGGAGAGAAAGAAAAAGTACATGCTTACTCTCTGTGCTATAATGTCTCAAATATTAAATCAT)$ MGAGPSLLLAALLLLLSGDGAVRCDTPANCTYLDLLGTWVFQVGSSGSQRDVNCSVMGPQEKKVVVYLQKLDTAYDDLGNSGHFTIIYNQGFEIVLNDYKWFAFFK|gpsmegwmvsslshhtallmmfllvflevrsdpklhlqgaaevhqfcevfwelpqprdlflhfskyfs* 01BR018 ENSG00000109861.16 ENSG00000266573.6 -/- +/+ chr11:88328112 chr18:24909788 CDS/splice-site exon/splice-site translocation 5 9 1 291 47 high out-of-frame . Cathepsin_C_exclusion_domain(100%)| . . ENSG00000109861.16 ENSG00000266573.6 ENST00000524463.5 ENST00000657601.1 upstream upstream . ^(AAGGCGCGCGCCTCGTGGTGGACTCACCGCTAGCCCGCAGCGCTCGGCTTCCTGGTAATTCTTCACCTCTTTTCTCAGCTCCCTGCAGCATGGGTGCTGGGCCCTCCTTGCTGCTCGCCGCCCTCCTGCTGCTTCTCTCCGGCGACGGCGCCGTGCGCTGCGACACACCTGCCAACTGCACCTATCTTGACCTGCTGGGCACCTGGGTCTTCCAGGTGGGCTCCAGCGGTTCCCAGCGCGATGTCAACTGCTCGGTTATGG___GACCACAAGAAAAAAAAGTAGTGGT)GTACCTTCAGgAGCTGGATACAGCATATGATGACCTTGGCAATTCTGGCCATTTCACCATCATTTACAACCAAGGCTTTGAGATTGTGTTGAATGACTACAAGTGGTTTGCCTTTTTTAAG___GATGTCACTGATTTTATCAGTCATTTGTTCATGCAGCTGGGAACTGTGGGGATATATGATTTGCCACATCTGAGGAACAAACTGG|GGGCCATCCATGGAGGGCTGGATGGTGTCCTCACTCTCCCATCACACAGCTCTTCTGATGATGTTTTTGCTTGTCTTTCTGGAAGTTCGCTCTGATCCAAAATTACATCTGCAAGGGGCAGCTGAAGTCCATCAGTTCTGTGAAGTCTTCTGGGAGTTGCCTCAGCCTAGAGATCTCTTCCTCCATTTCTCCAAATATTTC(AGTTAGCTCTAAATGAACAATTAGCATCTCCTAATTGTGCAACTATTTAATTTTGGTTTCCTCAACCAAGGAGTTAATCCCTTTCTGAGGGCAGGTACTGTCAACTTCTTTTGATTTTTCTACACTGCATGTGGCCATCCCAGATAACTCACTAACAATAAATTCTTGATGACATGACTCTACATGGTAAGACGGCACTACTCACTTGCCAAGAGCCAAACAGATATTTTGGAATCATTTCCCAGATAGTGATAAAAAATGGGCACAGACCATTTGTAATCTTTCATCCCATCTTCCTTTTGACTAGTGTCATCCCTGTAAACCATGAGTGATCAGGATTACATCTCTACATTCAGCAGGAGTAGAATAGAATTTCCATTTGCACACAAAACTGACTCACTGAGAGCAATTTAGTGATCTCAGTAGATGGGCCTGCTGCATGGAAAGGCAGCCAACAGATGGGGAGTGTCCCTATCTTAGCCAGAGGAGGGGAAAGTATGGGATTCAATCTGTTTCTTTAAAAGCTGAAGGATAAACTGAAGATGATGTTCATAAAAACTGTATTTCCATTGTTAAGGAGAAAAATAGATAGGTAAGCTCAGCCCTCTTTTGATAAAAGTTGAACAGAGAGGTGAAAAAGGGAATCCATTTGTTTATGCACTTATCCTAAAGAGAACATTGAAAGTCAAGGGGGTATGTCCAGTGGTTTGCAAAGTGGTGTCTCCAGGGGACATTTACAGTCAATGTCATCTACAGAAAGTTGCTGTCTTTGCTATAGTGAAGGGCAAATCATCTCCCAATTGCGCTGCTTTTCAAGATTCCATGAGGAGCTCTACTCTTGAAAATTTCTGAATCAAAATAGAATCTTAAGGAGTCTAATTCTAAATACAAACTTCATGTGTAAGATTCTCGCCATGGCTGTATGGCAGGTTTTTAAAGAAAGTATGAGAATGGTGTATTTTATCCAAGTGCTTGTTGCTGTTTTGCTCACTGGTGTCCTAAGCACCTAGAAAAGTCCTTGGCAGTTTTTAGGTGCACAATAAGTATTTAATTTTATTATTCCTAAATTATTGGTTCGATGATTGGGTGTATACAAGTGCATATGTGGATATGTGCATTTGAATGGAGAGAAAGAAAAAGTACATGCTTACTCTCTGTGCTATAATGTCTCAAATATTAAATCAT)$ MGAGPSLLLAALLLLLSGDGAVRCDTPANCTYLDLLGTWVFQVGSSGSQRDVNCSVMGPQEKKVVVYLQeLDTAYDDLGNSGHFTIIYNQGFEIVLNDYKWFAFFKDVTDFISHLFMQLGTVGIYDLPHLRNKL|gaihggldgvltlpshsssddvfaclsgssl* 01BR018 ENSG00000175787.17 ENSG00000122008.15 +/+ +/- chr9:94278845 chr5:75579167 CDS/splice-site intron translocation/5'-5' 5 5 0 29 9 high out-of-frame . . . . ENSG00000175787.17 ENSG00000122008.15 ENST00000395395.7 . downstream downstream . ^(AGTCCG)GCTCGCGTACTTCCGCGTTCCGGCATCGTCGCCTGGT--GTG___ATTTGCCTCTGCAACTTGACTCTCCTCTAGGAAGAGTACTCCAGAGAGCAGGGATATGTCACCAGGACTCCTGACAACCAGGAAGGAG|GTGAGCCACTGTGAGAGCAGAACTATACAGCAGGAAGTGAAGAATGCTGCCTTCTCACACATTATCAGAGCTGCTGCAGAATGTTCAG___GAGATGGAATATGGATGGAAAATAATTCAC MSPGLLTTRKE|vshcesrtiqqevknaafshiiraaaecsgdgiwmenns 01BR018 ENSG00000083168.11 ENSG00000156687.11 -/- +/- chr8:41940842 chr8:35649914 CDS/splice-site intron deletion/5'-5' 6 4 0 44 16 high out-of-frame . MOZ/SAS_family(100%),PHD-finger(100%)| . . ENSG00000083168.11 ENSG00000156687.11 ENST00000406337.6 . upstream downstream . ^(GGAGCTCACTGTCTCCAAGATGGCGGCCGTGTCAGTTTGGGGCATCTCCGCGGTCCGGCCCGGGGCCCCGGGATCTCGGCTGTCCTTCCTCCCG___GATTCTTTCTACTAATCCAGATACTTGTTGAAGTGCTGACTAGTTTCTTGGGGAAAGATGTCAAGGAAGAGTTGAAATTCCTAGACTG___GCATAAGATGCACATTTTTCTGCTCTGGAGCCGGGAATGAAATATTCTTGAGTTCTTACAACTTTATGACGAGACCCATGTGTGGTGCTATTGAGAAATTCATTGGGAAGTTGGAAGACATTTCAATCAACAGGTTGTTTTGGTTTCTATAGTACAATTGGGGTGGCATTCTGTTTTGTGAAAGGAGGAAGGACTTAGGCCAGAAAACTCATATGCTATGGTTAACTGGTTCCCAGCCTCCGAGAATCTTGTTTTCCATGGTGTAAAACTTACTCAGCATCAGGATAAGGGATAACGACTCTATGGATATACAGAATCCTTCACCATGGTAAAACTCGCAAACCCGCTTTATACTGAGTGGATTTTGGAGGCCATCAAAAAAGTGAAAAAGCAGAAACAGCGTCCTTCAGAAGAAAGGATATGCAATGCTGTGTCTTCATCCCATGGCTTGGATCGTAAAACTGTTTTAGAACAATTGGAGTTGAGTGTTAAAGATGGAACAATTTTAAAAGTCTCAAATAAAGGACTCAATTCCTATAAAGATCCTGATAATCCTGGGCGAATAGCACTTCCTAAGCCTCGGAACCATGGAAAATTGGATAATAAACAAAATGTGGATTGGAATAAACTGATAAAGCGGGCAGTTGAGGGCTTGGCAGAGTCTGGTGGCTCAACTTTGAAAAGCATTGAACGTTTTTTGAAAGGTCAGAAGGATGTGTCTGCATTATTCGGAGGCAGTGCTGCCTCTGGCTTTCACCAGCAGTTACGATTGGCTATCAAACGTGCCATTGGCCACGGCAGACTCCTTAAAGATGGACCTCTTTATCGGCTCAACACTAAAGCAACCAACGTGGATGGGAAAGAGAGTTGTGAGTCTCTTTCCTGTTTACCTCCAGTGTCCCTTCTTCCACATGAAAAGGATAAG___CCGGTTGCTGAACCAATCCCCATCTGTAGTTTCTGTCTTGGTACAAAAGAACAAAACCGAGAAAAGAAGCCAGAGGAACTCATCTCCTGTGCCGACTGTGGCAACAGTG___GCCATCCATCCTGTTTAAAGTTTTCCCCTGAACTAACGGTTCGAGTGAAGGCCTTACGGTGGCAGTGCATCGAGTGTAAAACATGCAGCTCCTGTCGAGATCAAGGCAAAAATGCG___GATAACATGCTCTTTTGTGATTCATGTGACCGAGGTTTTCACATGGAGTGTTGTGATCCGCCACTCACCCGTATGCCAAAAG___GCATGTGGATATGTCAAATATGTCGACCTAGGAAAAAAGGACGAAAACTTCTACAAAAGAAGGCAGCACAGATAAAACGGCGCTATACTAATCCAATAGGACGTCCAAAAAACAGGTTAAAGAAACAAAACACGGT___ATCAAAAGGTCCCTTCAGCAAAGTTCGAACTGGCCCTGGAAGGGGTAGGAAACGAAAAATCACTCTTTCCAGCCAATCAGCATCATCATCATCAGAAGAAGGATATTTAGAGCGGATAGATGGCTTGGACTTCTGCAGAGATAGCAATGTCTCCTTGAAGTTCAACAAGAAAACCAAAGGGCTCATTGATGGCCTTACCAAATTTTTTACCCCTTCCCCTGATGGGCGGAAAGCTCGGGGGGAAGTGGTGGACTACTCTGAGCAATATCGAATCAGAAAGAGGGGCAACAGGAAATCAAGCACTTCAGATTGGCCCACAG___ACAATCAGGATGGCTGGGATGGCAAACAAGAAAATGAGGAGCGACTTTTTGGGAGCCAGGAAATCATGACTGAGAAAGATATGGAATTATTTCGTGATATCCAAGAACAAGCACTGCAG___AAAGTTGGAGTGACTGGTCCCCCTGATCCACAAGTCCGCTGTCCCTCTGTCATTGAGTTTGGGAAGTATGAAATTCACACCTGGTACTCCTCCCCATATCCTCAAGAATACTCAAG___GCTGCCCAAATTGTATCTTTGTGAATTTTGTCTAAAATATATGAAAAGTAGAACTATTCTGCAGCAGCACATGAAGAAATGTGGTTGGTTCCATCCTCCTGCCAATGAGATTTACAGAAAGAATAATATTTCTGTCTTTGAG___GTTGATGGGAATGTGAGTACCATTTATTGTCAAAACCTGTGTCTTTTGGCAAAGTTGTTTCTTGACCACAAAACCCTCTATTACGATGTGGAGCCATTTCTTTTTTATGTACTAACACAGAATGATGTCAAGGGCTGCCACCTTGTTGGCTACTTTTCTAAG___GAAAAGCACTGCCAACAGAAGTACAATGTTTCCTGTATAATGATTCTTCCTCAATACCAGCGTAAGGGCTATGGCAGGTTTCTCATCGATTTCA___GTTATTTGTTATCAAAGCGTGAAGGCCAAGCAGGGTCTCCAGAGAAACCGTTATCTGATCTGGGTCGTCTTTCCTACATGGCATATTGGAAAAGTGTAATATTGGAGTGCCTTTATCACCAAAATGACAAGCAGATCAGCATTAAGAAGTTAAGCAAGTTGACTGGAATCTGCCCTCAAGACATCACTTCCACACTCCACCACCTACGAATGCTGGACTTCCGTAGTGACCA___ATTTGTGATTATCCGCCGGGAAAAACTTATCCAGGATCACATGGCAAAGCTTCAGCTGAATTTGCGACCTGTAGATGTAGATCCAGAATGTTTGCGCTGGACTCCAGTCATAGTGTCCAACTCTGTGGTCTCAGAGGAGGAAGAAGAGGAGGCTGAGGAAGGAGAAAACGAAGAGCCACAGTGCCAGGAAAGAGAATTAGAGATCAGTGTAAGG___GTGGGAAAGTCTGTGTCTCATGAGAACAAAGAACAAGATTCTTATTCAGTAGAAAGTGAAAAGAAACCAGAAGTTATGGCTCCAGTCAGTTCTACACGTTTGAGCAAACAAGTCCTTCCTCATGATAGTCTTCCTGCAAATAGCCAGCCATCTCGGAGGGGCCGCTGGGGGAGGAAGAACAGAAAAACCCAGGAACGTTTTGGTGATAAAGATTCTAAACTGCTCTTGGAAGAGACGTCTTCAGCTCCTCAGGAACAATATGGAGAATGTGGGGAGAAATCAGAAGCCACCCAGGAACAATACACTGAAAGTGAAGAACAGCTGGTGGCTTCTGAGGAGCAGCCAAGCCAGGACGGGAAACCTGACCTTCCCAAG)AGAAGACTCAGTGAGGGGGTTGAGCCCTGGCGAGGACAGCTCAAGAAAAGCCCTGAGGCTCTGAAGTGCAGATTAACAGAAGGAAGTGAGAGGCTGCCCCGTCGCTACAGTGAGGGTGACAGGGCTGTCCTCAGGGGCTTCAGTGAGAGCAGCGAGGAGGAGGAGGAGCCGGAAAGCCCTCGGTCAAGCTCGCCACCAATTCTCACAAAGCCCACGCTGAAGCGAAAG|GATGGAGACGAGAATACTACGGTAGATTCAGTCATCGGGTTTCTCCAGGCTCTTCTGCTTTATGTCTGTTTCTAAGTATTTCCTAGTTTTTTCATAACCTTGGCAGGCTTGAGGAGCACTGGTCAG___GTGCTGTATTATGATTCACTGTTTGCAGAGGACTCCAGATTGTCCTATAGGAATATGTG MVKLANPLYTEWILEAIKKVKKQKQRPSEERICNAVSSSHGLDRKTVLEQLELSVKDGTILKVSNKGLNSYKDPDNPGRIALPKPRNHGKLDNKQNVDWNKLIKRAVEGLAESGGSTLKSIERFLKGQKDVSALFGGSAASGFHQQLRLAIKRAIGHGRLLKDGPLYRLNTKATNVDGKESCESLSCLPPVSLLPHEKDKPVAEPIPICSFCLGTKEQNREKKPEELISCADCGNSGHPSCLKFSPELTVRVKALRWQCIECKTCSSCRDQGKNADNMLFCDSCDRGFHMECCDPPLTRMPKGMWICQICRPRKKGRKLLQKKAAQIKRRYTNPIGRPKNRLKKQNTVSKGPFSKVRTGPGRGRKRKITLSSQSASSSSEEGYLERIDGLDFCRDSNVSLKFNKKTKGLIDGLTKFFTPSPDGRKARGEVVDYSEQYRIRKRGNRKSSTSDWPTDNQDGWDGKQENEERLFGSQEIMTEKDMELFRDIQEQALQKVGVTGPPDPQVRCPSVIEFGKYEIHTWYSSPYPQEYSRLPKLYLCEFCLKYMKSRTILQQHMKKCGWFHPPANEIYRKNNISVFEVDGNVSTIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTQNDVKGCHLVGYFSKEKHCQQKYNVSCIMILPQYQRKGYGRFLIDFSYLLSKREGQAGSPEKPLSDLGRLSYMAYWKSVILECLYHQNDKQISIKKLSKLTGICPQDITSTLHHLRMLDFRSDQFVIIRREKLIQDHMAKLQLNLRPVDVDPECLRWTPVIVSNSVVSEEEEEEAEEGENEEPQCQERELEISVRVGKSVSHENKEQDSYSVESEKKPEVMAPVSSTRLSKQVLPHDSLPANSQPSRRGRWGRKNRKTQERFGDKDSKLLLEETSSAPQEQYGECGEKSEATQEQYTESEEQLVASEEQPSQDGKPDLPKRRLSEGVEPWRGQLKKSPEALKCRLTEGSERLPRRYSEGDRAVLRGFSESSEEEEEPESPRSSSPPILTKPTLKRK|dgdenttvdsvigflqalllyvcf* 01BR018 ENSG00000116350.17 ENSG00000253304.2(6700),ENSG00000225750.1(13891) -/- ./- chr1:29181646 chr1:29130603 CDS/splice-site intergenic deletion/read-through 3 7 0 60 23 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000116350.17 . ENST00000373795.7 . upstream downstream low_entropy(1),mismatches(1) ^(GCGTGCTCGCGTACGTCGCCGGGGTTCGGCTGCGTCCGTCCCGCCGCCCGCCCGTTGCCGCCGCCGCCGCTGCCGCCGTGCTCTCGCTTTGCCCGCCGCCGCCTAAGGGGGGCTGGGGCCGGGGCCAGCCATCACTGCCGTTGCC)GGGATGCCGCGGGTGTACATCGGCCGCCTGAGCTACCAGGCCCGGGAGCGCGATGTGGAGCGCTTCTTTAAGGGCTACGGGAAGATCCTGGAGGTGGATCTGAAGAACGG|TAAATCTTGCTGCTGCTCACTCTTTGGGTCCACACTGCCTTTATGAGCTGTAACACTCACGGGGAAGGTCTGCAGCTTCACTCCTAAAGCCAGCGAGACCACCAACCCACCAGGAGGAGCGAACAACTCTAGACGCGCCGCCTTAAGAGCTGTAACACTCACCACGAAGGTTTGCAGCTTCACTCCTGAGCCGGGAAGACCACGAACCCCACCAGAAGGAAGAAACTCCGAACACATCCGAACATCAGAAGGAAAAAACTCCGGACACGCCGCCTTTAAGAACTGTAACACTCACCACGAGGGTCCACGGCTTCATTCTTGAAGTCAGTGAGACCAAGAACCCACCAATTCCGG MPRVYIGRLSYQARERDVERFFKGYGKILEVDLKNg|kscccslfgstlpl* 01BR018 ENSG00000167578.18 ENSG00000166862.6 +/+ -/+ chr19:40780499 chr22:36698490 CDS/splice-site intron translocation/5'-5' 1 2 0 81 12 high out-of-frame . Ras_family(100%)| . . ENSG00000167578.18 ENSG00000166862.6 ENST00000357052.8 . downstream upstream . ^(GGAAGTGGCGGTGCCGGGCCCGGGGAGTAGGAAGGAGCCGGGGCTGTAGCCGGAGTGGAGCGGCTGCCAGCCGAGGAGCAGGCGCGGCCGCGGCGCCATATTGCGGCCCTCAGCGGCCGCGACCGAGTCATGGCTGAGACCTACG___ACTTCCTCTTCAAATTCCTGGTGATTGGCAGTGCAGGAACTGGCAAATCATGTCTCCTTCATCAGTTCATTGAGAATAAGT___TCAAA)CAGGACTCCAACCACACAATCGGCGTGGAGTTTGGATCCCGGGTGGTCAACGTGGGTGGGAAGACTGTGAAGCTACAGATTTGGGACACGGCTGGCCAGGAGCGGTTTCG|AATAAGAGAGCCATGGCTGAGCCGAGCGTGGAGCACTGTATCACCTCGCAGGCCATCATGACTTGGAAAAGATTTGGGACCATTGAGAGAGACACTTCTTGCTCAAAGAGAACAAGGATGTAGAGTGGCTGGCAGAGCCCCTGTGAGCAAGCAGCCTGGTGGGGGCAAGAAAGGAGAAGCCACTGATGGATGA MAETYDFLFKFLVIGSAGTGKSCLLHQFIENKFKQDSNHTIGVEFGSRVVNVGGKTVKLQIWDTAGQERFr|irepwlsrawstvsprrps* 01BR018 ENSG00000171570.11 ENSG00000166862.6 +/+ -/+ chr19:40780499 chr22:36698490 CDS/splice-site intron translocation/5'-5' 1 2 0 81 12 high out-of-frame . Ras_family(100%)| . . ENSG00000171570.11 ENSG00000166862.6 ENST00000594136.2 . downstream upstream . ^(GAGTAGGAAGGAGCCGGGGCTGTAGCCGGAGTGGAGCGGCTGCCAGCCGAGGAGCAGGCGCGGCCGCGGCGCCATATTGCGGCCCTCAGCGGCCGCGACCGAGTCATGGCTGAGACCTACG___ACTTCCTCTTCAAATTCCTGGTGATTGGCAGTGCAGGAACTGGCAAATCATGTCTCCTTCATCAGTTCATTGAGAATAAGT___TCAAA)CAGGACTCCAACCACACAATCGGCGTGGAGTTTGGATCCCGGGTGGTCAACGTGGGTGGGAAGACTGTGAAGCTACAGATTTGGGACACGGCTGGCCAGGAGCGGTTTCG|AATAAGAGAGCCATGGCTGAGCCGAGCGTGGAGCACTGTATCACCTCGCAGGCCATCATGACTTGGAAAAGATTTGGGACCATTGAGAGAGACACTTCTTGCTCAAAGAGAACAAGGATGTAGAGTGGCTGGCAGAGCCCCTGTGAGCAAGCAGCCTGGTGGGGGCAAGAAAGGAGAAGCCACTGATGGATGA MAETYDFLFKFLVIGSAGTGKSCLLHQFIENKFKQDSNHTIGVEFGSRVVNVGGKTVKLQIWDTAGQERFr|irepwlsrawstvsprrps* 01BR018 ENSG00000140853.15 ENSG00000087237.12 +/+ +/+ chr16:56989617 chr16:56975101 intron CDS/splice-site duplication 0 20 0 36 128 medium . . |LBP_/_BPI_/_CETP_family__C-terminal_domain(100%) . . ENSG00000140853.15 ENSG00000087237.12 ENST00000262510.10 ENST00000379780.6 downstream upstream duplicates(1) ^(GCAGCAGCCGCCAGTTCCATGCACTGGCGGAGCAGCTCTAGGCGGCGGCTTCTACTTTCA)GTTTCGTGCAGAGCGCGGAGGAGCCGCGAGCGCTGAGGGTGAGTGCCGGGAGCTCTGAGG|GCAGTGCTGGAGACCTGGGGCTTCAACACCAACCAGGAAATCTTCCAAGAG___GTTGTCGGCGGCTTCCCCAGCCAGGCCCAAGTCACCGTCCACTGCCTCAAGATGCCCAAGATCTCCTGCCAAAACAAGGGAGTCGTGGTCAATTCTTCAGTGATGGTGAAATTCCTCTTTCCACGCCCAGACCAGCAACATTCTGTAGCTTACACATTTGAAGAG___GATATCGTGACTACCGTCCAGGCCTCCTATTCTAAGAAAAAGCTCTTCTTAAGCCTCTTGGATTTCCA___GATTAC(ACCAAAGACTGTTTCCAACTTGACTGAG___AGCAGCTCCGAGTCCGTCCAGAGCTTCCTGCAGTCAATGATCACCGCTGTGGGCATCCCTGAGGTCATGTCTC___GGCTCGAGGTAGTGTTTACAGCCCTCATGAACAGCAAAGGCGTGAGCCTCTTCGACATCATCAACCCTGAGATTATCACTCGAGAT___GGCTTCCTGCTGCTGCAGATGGACTTTGGCTTCCCTGAGCACCTGCTGGTGGATTTCCTCCAGAGCTTGAGCTAGAAGTCTCCAAGGAGGTCGGGATGGGGCTTGTAGCAGAAGGCAAGCACCAGGCTCACAGCTGGAACCCTGGTGTCTCCTCCAGCGTGGTGGAAGTTGGGTTAGGAGTACGGAGATGGAGATTGGCTCCCAACTCCTCCCTATCCTAAAGGCCCACTGGCATTAAAGTGCTGTATCCAAG)$ . 01BR018 ENSG00000137478.15 ENSG00000222652.1(229367),ENSG00000238697.1(124681) -/- ./- chr11:73083695 chr6:76322307 CDS/splice-site intergenic translocation 10 0 0 92 7 medium out-of-frame . Fes/CIP4__and_EFC/F-BAR_homology_domain(100%)| . . ENSG00000137478.15 . ENST00000409418.9 . upstream downstream duplicates(2) ^(AGCGAGGGCCGGGCCGCCTGAGTGGGTGGGGTGGGGGCCGCTGCGTCCGCCGGGAGCGGCGGCGCAGGCGGCCGACCGGGAGCGCGGACAACGCGGCTGCGGCTAACCCGCCGCCCGGCCGGCTGAGACCCTCGCGCCCCTGCTCCTGGGGCCCCCGCCCCCTCGCCGTCTCCGCCTCCTTCCTCACACACCCCCGGGCCGCCCGGGCCGCCCGGGCCCCAAGCCTTCCCGGTGCTCCTCCCTCGTCTCCTCACACTCGCTCTCTGGCTGGGGTCCGCCTGCCGCCCGCTGGCCTGCTCCCTCCGGGGCAAGTCTTGCTTCTTAAGCGCTCCTTTCACACACGCGCGCGCTCGCTGGGCCGTCCCCTCCTCTCCGGCCCTCCTCCTCCTCCTGGTCCTTGCTAACGCTGCCGTCGGGGAGGATTGATGTCCCTTCAGCATCATGCAGCCGCCGCCGAGGAAG___GTGAAAGTTACACAAGAACTGA)AAAACATTCAAGTTGAGCAGATGACAAAACTTCAAGCCAAACATCAAGCAGAATGTGATTTGCTTGAAGATATGAG___GACATTCAGTCAGAAGAAGGCTGCTATTGAAAGAGAGTATGCACAG|GATGACTGCCTTCCTCTGCTGTCCTGAAGACCAtGCCTAAGGGGACTGCAATGCCTGACC--TACACTTTGGGCTGATCCATC MQPPPRKVKVTQELKNIQVEQMTKLQAKHQAECDLLEDMRTFSQKKAAIEREYAQ|ddclplls* 01BR018 ENSG00000115306.16 ENSG00000115306.16 +/+ +/+ chr2:54629988 chr2:54620052 CDS intron duplication 3 2 0 86 3 medium out-of-frame . Calponin_homology_(CH)_domain(100%),Spectrin_repeat(100%)|Calponin_homology_(CH)_domain(100%),Pleckstrin_homology_domain(100%),Spectrin_repeat(100%) . . ENSG00000115306.16 ENSG00000115306.16 ENST00000615901.4 . downstream upstream . ^(GGATTCCTCCAGTCCCTCCCTCGGCCGCCTCTCCTCCCGGAGCGAGCGCGCAGCCCTGCGCAGCAGCGCCCACTGGTCCCGTCCTGTGAGCCCCGGCCCCAGCCGCGGACAGACCCGCGGAGTCGCCTCCCGGCCCACCCGCCCGGCCGCCGAGGAGCGGGAGGAGGACGGGACCCCGGCGCCCCCACCCCATCCCCGGGAG___AACTCTAAGAAGGAGCTGATGTGGAGGAGCAGCTGAGACAGTTCAAGATGACGACCACAGTAGCCACAGACTATGACAACATTGAGATCCAGCAGCAGTACAGTGATGTCAACAACCGCTGGGATGTCGACGACTGGGACAATGAGAACAGCTCTGCGCGGCTTTTTGAGCGGTCCCGCATCAAGGCTCTGGCAG___ATGAGCGTGAAGCCGTGCAGAAGAAGACCTTCACCAAGTGGGTCAATTCCCACCTTGCCCGTGTGTCCTGCCGGATCACAGACCTGTACACTGACCTTCGAGATGGACGGATGCTCATCAAGCTGCTGGAGGTCCTCTCTGGAGAGAGGCTG___CCTAAACCCACCAAGGGACGAATGCGCATCCACTGCTTAGAGAATGTGGACAAGGCCCTTCAGTTCCTGAAGGAGCAGAGAGTCCATCTTGAGAACATGGGGTCCCATGACATCGTGGATGGAAACCACCGGCTGACCCTTGGCCTCATCTGGACCATCATCCTGCGCTTCCAG___ATCCAGGATATCAGTGTGGAAACTGAAGACAACAAAGAGAAGAAATCTGCCAAGGATGCATTGCTGTTGTGGTGCCAGATGAAGACAGCTGG___GTACCCCAATGTCAACATTCACAATTTCACCACTAGCTGGAGGGACGGCATGGCCTTCAATGCACTGATACACAAACACCG___GCCTGACCTGATAGATTTTGACAAACTAAAGAAATCTAACGCACACTACAACCTGCAGAATGCATTTAATCTGGCAGAACAGCACCTCGGCCTCACTAAACTGTTGGACCCCGAAG___ACATCAGCGTGGACCATCCTGATGAGAAGTCCATAATCACTTATGTGGTGACTTATTACCACTACTTCTCTAAGATGAAGGCCTTAGCTGTTGAAGGAAAACGAATTGGAAAG___GTGCTTGACAATGCTATTGAAACAGAAAAAATGATTGAAAAGTATGAATCACTTGCCTCTGACCTTCTGGAATGGATTGAACAAACCATCATCATTCTGAACAATCGCAAATTTGCCAATTCACTGGTCGGGGTTCAACAGCAGCTTCAGGCATTCAACACTTACCGCACTGTGGAGAAACCACCCAA___ATTTACTGAGAAGGGGAACTTGGAAGTGCTGCTCTTCACCATTCAGAGCAAGATGAGGGCCAACAACCAGAAGGTCTACATGCCCCGGGAGGGGAAGCTCATCTCTGACATCAACAAG___GCCTGGGAAAGACTGGAAAAAGCGGAACACGAAAGAGAACTGGCTTTGCGGAATGAGCTCATAAGACAGGAGAAACTGGAACAGCTCGCCCGCAGATTTGATCGCAAGGCAGCTATGAGGGAGACTTGGCTGAGCGAAAACCAGCGTCTGGTGTCTCAG___GACAACTTTGGGTTTGACCTTCCTGCAGTTGAGGCCGCCACAAAAAAGCACGAGGCCATTGAGACAGACATTGCCGCATACGAGGAGCGTGTGCAGGCTGTGGTAGCCGTGGCCAGGGAGCTCGAGGCCGAGAATTACCACGACATCAAGCGCATCACAGCGAGGAAGGACAATGTCATCCGGCTCTGGGAATACCTACTGGAACTGCTCAGGGCCCGGAGACAGCGGCTCGAGATGAACCTGGGGCTGCAGAAGATATTCCAGGAAATGCTCTACATTATGGACTGGATGGATGAAATGAAG___GTGCTAGTATTGTCTCAAGACTATGGCAAACACTTACTTGGTGTGGAAGACCTGTTACAGAAGCACACCCTGGTTGAAGCAGACATTGGCATCCAGGCAGAGCGGGTGAGAGGTGTCAATGCCTCCGCCCAGAAGTTCGCAACAGACGGGGAAG___GTTACAAGCCCTGTGACCCCCAGGTGATCCGAGACCGCGTGGCCCACATGGAGTTCTGTTATCAAGAGCTTTGCCAGCTGGCGGCTGAGCGCAGGGCCCGTCTGGAAGAGTCCCGCCGCCTCTGGAAGTTCTTCTGGGAGATGGCAGAAGAGGAAGGCTGGATACGGGAGAAGGAGAAGATCCTGTCCTCGGACGATTACGGGAAAGACCTGACCAGCGTCATGCGCCTGCTCAGCAAGCACCGGGCGTTCGAGGACGAGATGAGCGGCCGCAGTGGCCACTTTGAGCAGGCCATCAAGGAAGGCGAAGACATGATCGCGGAGGAGCACTTCGGGTCGGAGAAGATCCGTGAGAGGATCATTTACATCCGGGAGCAGTGGGCCAACCTAGAGCAGCTCTCGGCCATTCGGAAGAAGCGCCTGGAGGAGGCCTCCCTGCTGCACCAGTTCCAGGCAGATGCTGATGACATTGATGCCTGGATGCTGGACATCCTCAAGATTGTCTCCAGCAGCGACGTGGGCCACGATGAGTATTCCACACAGTCTCTGGTCAAGAAACACAAGGACGTGGCGGAAGAGATCGCCAATTACAGGCCCACCCTTGACACGCTGCACGAACAAGCCAGCGCCCTCCCCCAGGAGCATGCCGAGTCTCCAGACGTGAGGGGCAGGCTGTCGGGCATCGAGGAGCGGTATAAGGAGGTGGCAGAGCTGACGCGGCTGCGGAAGCAGGCACTCCAGGACACTCTGGCCCTGTACAAGATGTTCAGCGAGGCTGATGCCTGTGAGCTCTGGATCGACGAGAAGGAG)CAGTGGCTCAACAACATGCAGATCCCAGAGAAGCTGGAGGATCTGGAGGTCATCCAGCACAG___ATTTGAGAGCCTAGAACCAGAAATGAACAACCAGGCTTCCCGGGTTGCAGTGGTGAACCAGATTGCACGCCAGCTGATGCACAGCGGCCACCCAAGT|ATTGCCGAACTTCAAAGACTTGCCATTTTAAGTTGTTTGTTCCTTCTCTCAGTACCTATTTATTGACCACCTGCTTTGCGCAGGACAGCACAGCGGGAATGTGGTAG MTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALADEREAVQKKTFTKWVNSHLARVSCRITDLYTDLRDGRMLIKLLEVLSGERLPKPTKGRMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLTLGLIWTIILRFQIQDISVETEDNKEKKSAKDALLLWCQMKTAGYPNVNIHNFTTSWRDGMAFNALIHKHRPDLIDFDKLKKSNAHYNLQNAFNLAEQHLGLTKLLDPEDISVDHPDEKSIITYVVTYYHYFSKMKALAVEGKRIGKVLDNAIETEKMIEKYESLASDLLEWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRTVEKPPKFTEKGNLEVLLFTIQSKMRANNQKVYMPREGKLISDINKAWERLEKAEHERELALRNELIRQEKLEQLARRFDRKAAMRETWLSENQRLVSQDNFGFDLPAVEAATKKHEAIETDIAAYEERVQAVVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLEMNLGLQKIFQEMLYIMDWMDEMKVLVLSQDYGKHLLGVEDLLQKHTLVEADIGIQAERVRGVNASAQKFATDGEGYKPCDPQVIRDRVAHMEFCYQELCQLAAERRARLEESRRLWKFFWEMAEEEGWIREKEKILSSDDYGKDLTSVMRLLSKHRAFEDEMSGRSGHFEQAIKEGEDMIAEEHFGSEKIRERIIYIREQWANLEQLSAIRKKRLEEASLLHQFQADADDIDAWMLDILKIVSSSDVGHDEYSTQSLVKKHKDVAEEIANYRPTLDTLHEQASALPQEHAESPDVRGRLSGIEERYKEVAELTRLRKQALQDTLALYKMFSEADACELWIDEKEQWLNNMQIPEKLEDLEVIQHRFESLEPEMNNQASRVAVVNQIARQLMHSGHPS|iaelqrlailsclfllsvpiy* 01BR018 ENSG00000144935.15 ENSG00000144935.15 +/- +/+ chr3:142776836 chr3:142780445 intron intron inversion/3'-3' 1 3 0 6 4 medium . . |Ion_transport_protein(100%),Transient_receptor_ion_channel_II(100%) . . ENSG00000144935.15 ENSG00000144935.15 . ENST00000476941.6 upstream upstream . CTTCATGTCCCTTTTAGGTTGTGGAACACAGAAGCAAATATATTAACCAATAAACATCCTCCATCAATTCCTCCATCAATTTCCTAATAACTTTGTGAGGCTCAAATTTTTAACCAAG___ATGGAGTCTCACTCTGTCACCAGACCGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTC|AAGATATTATGTCTATTGTTAAG___GAATGATTATGAGGAACTAGCCCGGCAATGTAAAATGTTTGCTAAGGATTTACTTGCACAAGCCCGG(AATTCTCGTGAATTGGAAGTTATTCTAAACCATACGTCTAGTGACGAGCCTCTTGACAAACGGGGATTATTAGAAGAAAGAATGAATTTAAGTCGTCTAAAACTTGCTATCAAATATAACCAGAAAGAG___TTTGTCTCCCAGTCTAACTGCCAGCAGTTCCTGAACACTGTTTGGTTTGGACAGATGTCGGGTTACCGACGCAAGCCCACCTGTAAGAAGATAATGACTGTTTTGACAGTAGGCATCTTTTGGCCAGTTTTGTCACTTTGTTATTTGATAGCTCCCAAATCTCAGTTTGGCAGAATCATTCACACACCTTTTATGAAATTTATCATTCATGGAGCATCATATTTCACATTTCTGCTGTTGCTTAATCTATACTCTCTTGTCTACAATGAGGATAAGAAAAACACAATGGGGCCAGCCCTTGAAAGAATAGACTATCTTCTTATTCTGTGGATTATTG___GGATGATTTGGTCAGACATTAAAAGACTCTGGTATGAAGGGTTGGAAGACTTTTTAGAAGAATCTCGTAATCAACTCAGTTTTGTCATGAATTCTCTTTATTTGGCAACCTTTGCCCTCAAAGTGGTTGCTCACAACAAG___TTTCATGATTTTGCTGATCGGAAGGATTGGGATGCATTCCATCCTACACTGGTGGCAGAAGGGCTTTTTGCATTTGCAAATGTTCTAAGTTATCTTCGTCTCTTTTTTATGTATACAACCAGCTCTATCTTGGGTCCATTACAG___ATTTCAATGGGACAGATGTTACAAGATTTTGGAAAATTTCTTGGGATGTTTCTTCTTGTTTTGTTTTCTTTCACAATTGGACTGACACAACTGTATGATAAAGGATATACTTCAAAGGAGCAGAAGGACTGTGTAGGCATCTTCTGTGAACAGCAAAGCAATGATACCTTCCATTC___GTTCATTGGCACCTGCTTTGCTTTGTTCTGGTATATTTTCTCCTTAGCGCATGTGGCAATCTTTGTCACAAGATTTAGCTATGGAGAAGAACTGCAGTCCTTTGTGGGAGCTGTCATTGTTGGTACATACAATGTCGTGGTTGTGATTGTGCTTACCAAACTGCTGGTGGCAATGCTTCATAAAAGCTTTCAGTTGATAGCA___AATCATGAAGACAAAGAATGGAAGTTTGCTCGAGCAAAATTATGGCTTAGCTACTTTGATGACAAATGTACGTTACCTCCACCTTTCAACATCATTCCCTCACCAAAGACTATCTGCTATATGATTAGTAGCCTCAGTAAGTGGATTTGCTCTCATACATCAAAAGGCAAGGTCAAACGGCAAAACAGTTTAAAG___GAATGGAGGAATTTGAAACAGAAGAGAGATGAAAACTATCAAAAAGTGATGTGCTGCCTAGTGCATCGTTACTTGACTTCCATGAGACAGAAGATGCAAAGTACAGATCAGGCAACTGTGGAAAATCTAAACGAACTGCGCCAAGATCTGTCAAAATTCCGAAATGAAATAAGGGATTTACTTGGCTTTCGGACTTCTAAATATGCTATGTTTTATCCAAGAAATTAACCATTTTCTAAATCATGGAGCGAATAATTTTCAATAACAGATCCAAAAGACTATATTGCATAACTTGCAATGAAATTAATGAGATATATATTGAAATAAAGAATTATGTAAAAGCCATTCTTTAAAATATTTATAGCATAAATATATGTTATGTAAAGTGTGTATATAGAATTAGTTTTTTAAACCTTCTGTTAGTGGCTTTTTGCAGAAGCAAAACAGATTAAGTAGATAGATTTTGTTAGCATGCTGCTTGGTTTTCTTACTTAGTGCTTTAAAATGTTTTTTTTTATGTTTAAGAGGGGCAGTTATAAATGGACACATTGCCCAGAATGTTTTGTAAAATGAAGACCAGCAAATGTAGGCTGATCTCCTTCACAGGATACACTTGAAATATAGAAGTTATGTTTTAAATATCTCTGTTTTAGGAGTTCACATATAGTTCAGCATTTATTGTTTAGGAGTATAATTTTATTTTATCTAAAATAATAGTCTATTTTTTCTTTTGTATTTTGTTATAATCTTAAGCAACAAAGAAAAAACCCTAATATTTGAATCTATTTATGTCTTTCAATTTAAATTCACTTCAGTTTTTGTTATTGTAATATATTTACTTTTACATGGTTATAATCACTTTATATTTTTAATGTTTTTTTCACTTAATATTTTATATATACATTTCCATGTATTGATGTAGTTAGTCCACATTTAAATTTTTATAGAATTATATAGTTTTTGAAAAATACAGTCAGTAGATGTTTTATTTTTTAGCTATTCAGTTATGTTTATAAGTTTGCATAGCTACTTCTCGACATTTGGTTTGTTTTAATTTTTTTGTATCATAATAGTCCTATTTTTTTTTCAAGTTGGAGTGAATGTTTTTAGTTTTAAGATAGATAGGAGACACTTTTTTATCACATGTAGTCACAACCTGTTTTGTTTTTGTAAAACATAGGAAGTCTCTTTAATGCAATGATTTGTTTTATATTTGGACTAAGGTTCTTGAGCTTATCTCCCAAGGTACTTTCCATAATTTAACACAGCTTCTATAAAAGTGACTTCATGCTTACTTGTGGATCATTCTTGCTGCTTAAGATGAAAAGCATTGGTTTTTTAAAATTAGAGAATAAAATATGTATTTAAATTTTTGGTGTGTTCACATAAAGGGATGTAGCTAAAATGTTTTCATAGGCTATTATATATTCTCGCAGCATTTCCAGTTAAGAGGATATTAGGTATATAATTCTCTTCTTAACCGAATGTCAGATGGTCTTACGCCACAGGGTGCAGGTAACCCTTGGTCTGTAAGCACCACCGATCCAGGGATCATTGTCTAAATAGGTTACTATTGTTTGTTTCATCTTGCTTTTGCATTTTTATTTTTTAATTTCCAAATTTTAAGTGTTCCCTCTTTGGGGCAAATTCTTATAAAAATGTTTATTGTAAAGTTATATATTTTGTCTACGATGGGATTATGCACTTCCCAATTGGGATTTTACATCTGGATTTTTAGTCATTCTAAAAAACACCTAATTATTAAAACATTTATAGAGTGCCTACTGTATGCATGAGTTGAGTTGCTTCTGAGGTACATTTTGAATGACAGCATATTGTAAGAAAAAAAAAGGTGAATAAAATTTGACATTAGATTATAAA)$ . 01BR018 ENSG00000261857.7 ENSG00000166862.6 +/+ -/+ chr19:40777079 chr22:36698490 CDS/splice-site intron translocation/5'-5' 0 4 0 893 12 medium out-of-frame . Variant_SH3_domain(100%)| . . ENSG00000261857.7 ENSG00000166862.6 ENST00000594436.5 . downstream upstream . ^(CTTCTGTGGCCAGAGGGGACAGCGGAGGAGCCCAG___TCCACGATGGCCCGGTCCCTGGTGTGCCTTGGTGTCATCATCTTGCTGTCTGCCTTCTCCGGACCTGGTGTCAGGGGTGGTCCTATGCCCAAGCTGGCTGACCGGAAGCTGTGTGCGGACCAGGAGTGCAGCC___ACCCTATCTCCATGGCTGTGGCCCTTCAGGACTACATGGCCCCCGACTGCCGATTCCTGACCATTCACCGGGGCCAAGTGGTGTATGTCTTCTCCAAGCTGAAGGGCCGTGGGCGGCTCTTCTGGGGAGGCAGC___GTTCAGGGAGATTACTA)TGGAGATCTGGCTGCTCGCCTGGGCTATTTCCCCAGTAGCATTGTCCGAGAGGACCAGACCCTGAAACCTGGCAAAGTCGATGTGAAGACAGAC|AATAAGAGAGCCATGGCTGAGCCGAGCGTGGAGCACTGTATCACCTCGCAGGCCATCATGACTTGGAAAAGATTTGGGACCATTGAGAGAGACACTTCTTGCTCAAAGAGAACAAGGATGTAGAGTGGCTGGCAGAGCCCCTGTGAGCAAGCAGCCTGGTGGGGGCAAGAAAGGAGAAGCCACTGATGGATGAGGAGCTCAGATATTCAGCAGAGGGAATTTGACAGCCTGGACAGAGAGTAAGATTTCTGTTCTGCCTCACAGTAAGGCAAAAC MARSLVCLGVIILLSAFSGPGVRGGPMPKLADRKLCADQECSHPISMAVALQDYMAPDCRFLTIHRGQVVYVFSKLKGRGRLFWGGSVQGDYYGDLAARLGYFPSSIVREDQTLKPGKVDVKTD|nkramaepsvehcitsqaimtwkrfgtierdtscskrtrm* 01BR018 ENSG00000006025.12 ENSG00000183780.13 -/- +/- chr17:47815297 chr1:234145263 CDS intron translocation/5'-5' 2 1 0 24 4 medium out-of-frame . Pleckstrin_homology_domain(100%)| . . ENSG00000006025.12 ENSG00000183780.13 ENST00000392507.7 . upstream downstream . ^(GGGGAGATCCGGCTAGAGGGGAGGCTCTGACATCTCCTTCCTTCCTGGTTCCTGCAGCAGCTGCTGCCACTGCTCAGCGCGGTGAGGAGGGAGCCGGTGACTCGGAGACGGTGACTCAGAGGCAGAGCGGCGCAAGGGCCAAGGAGTACTGGCGTCCATGGACCCTGGG___GACCCCGTCAGGAGCAGGTGACATCCTTCCCCTTCCACCCTGCTCCCTGCTCTACATCCCCAGCAGGGAGTGGCCTCTCCCTTCTCCATGGACTTCCAAGAGAGGGACCCGCCCTTCCTGCCTGAGAGCGCTCAGTCCTCAAAGCCCAGCAGTGCTCAGCAG___GCCTCTGAGCTGTGGGAGGTGGTGGAGGAGCCTCGGGTCAGGCTGGGGACAGAGGGTGTCATGCCTGAGAGGCAGGAAGGTCACCTGCTCAAGAAGAGGAAGTGGCCTCTGAAGGGCTGGCACAAG___AGATACTTTGTGCTCGAGGACGGGATCCTTCATTATGCAACAACCCGGCAAGAC___ATCACCAAGGGGAAGCTCCATGGCTCCATCGATGTCCGGCTGTCGGTCATGTCCATCAACAAAAAGGCCCAGCGCATTGACCTTGACACTGAAGACAACATCTACCACCTCAAG___ATCAAATCCCAGGACCTATTCCAGAGCTGGGTGGCGCAGCTGCGTGCCCACCGCCTAGCCCACCGCCTGGACATGCCCCGTGGCTCACTGCCCAGTACTGCTCACCGGAAG___GTTCCTGGTGCCCAGCTTCCAACAGCAGCTACTGCCTCAGCCCTACCTGGGCTTGGACCGCGGGAGAAAGTGTCTTCCTGGCTGAGGGACAGTGATGGGCTGGACCGCTGCTCTCATG___AGCTCTCTGAGTGTCAGGGGAAGCTCCAGGAACTACACAGGCTCCTCCAGAGCCTGGAGTCCCTGCACCGAATCCCCTCAGCCCCTGTTATCCCCACACACCAG___GCCTCAGTGACAACCGAAAGACCCAAGAAGGGGAAACGGACAAGCCGCATGTGGTGCACCCAGAGCTTTGCCAAGGATGACACCATTGGACGG___GTTGGTCGTCTCCATGGCTCTGTTCCCAACCTGTCTCGCTACCTGGAGTCTCGGGACTCCTCGGGCACCCGTGGGCTGCCACCCACAGACTATGCCCACCTGCAGCGCAGCTTCTGGGCCCTGGCCCAGAAGG___TGCACAGCTCCCTCAGCAGCGTCCTGGCCGCCCTCACCATGGAACGGGACCAACTGAGGGACATGCACCAGGGCTCAGAGTTGTCAAGAATGGGG___GTCTCTGAGGCCTCCACTGGCCAGAGGCGCCTCCACTCACTGTCCACCTC)CTCCGACACCACGGCGGACTCTTTCAGCTCCCTCAACCCTGAGGAG___CAAGAAGCTCTGTACATGAAGGGGCGCGAGCTCACCCCCCAGCTATCGCAGACCAG|GATGACATCCAAAGTGGATTTTGTTCCTGAAAGTACTAGAAGAGTCTATTATAATGCAGTACCACTCACAGCGGGACAGTGCGGTAAAAACTTCAAAACTG MDFQERDPPFLPESAQSSKPSSAQQASELWEVVEEPRVRLGTEGVMPERQEGHLLKKRKWPLKGWHKRYFVLEDGILHYATTRQDITKGKLHGSIDVRLSVMSINKKAQRIDLDTEDNIYHLKIKSQDLFQSWVAQLRAHRLAHRLDMPRGSLPSTAHRKVPGAQLPTAATASALPGLGPREKVSSWLRDSDGLDRCSHELSECQGKLQELHRLLQSLESLHRIPSAPVIPTHQASVTTERPKKGKRTSRMWCTQSFAKDDTIGRVGRLHGSVPNLSRYLESRDSSGTRGLPPTDYAHLQRSFWALAQKVHSSLSSVLAALTMERDQLRDMHQGSELSRMGVSEASTGQRRLHSLSTSSDTTADSFSSLNPEEQEALYMKGRELTPQLSQTr|mtskvdfvpestrrvyynavpltagqcgknfkt 01BR018 ENSG00000268975.2 ENSG00000166862.6 +/+ -/+ chr19:40780499 chr22:36698490 3'UTR/splice-site intron translocation/5'-5' 1 2 0 81 12 medium stop-codon . Variant_SH3_domain(100%)| . . ENSG00000268975.2 ENSG00000166862.6 ENST00000600729.2 . downstream upstream . ^(AGGTAGACAGAAAAGTTCTCCAAGTCCTCACCGGCCCAGAGGCCCAGCCATCTTCACCTCTCAAGCTGTCTGTAGAGGTCCACGTGTCAAGAAAACTGAGGACAGAGGCCCTCAGTCCAGTTCCCACAAGCAACTGCATCTCCCCAACAGCTGCCTGAATGAGTTTGGAAGCAGTCCTCCCACCATTCAGCCTTCAGATGAAACTGCACCCCTGGCTGACAGGCTGATTGCAGCCTTATAGCAGACCTTAAGCCTGAGACATTCGACCCACAGAAAAGGTGATAATTTTGGTCTTTTTTTTTCTAAACAGGTTCTTGCTCTAGAGTGCAGTGGCACGATCATGGCTCACTGCGGCCTCTACATCCTGGGTTCAAGTGGTCCTCCCACCTCAACCTCCTGAGTGGCTGGGACTACAG___TCCACGATGGCCCGGTCCCTGGTGTGCCTTGGTGTCATCATCTTGCTGTCTGCCTTCTCCGGACCTGGTGTCAGGGGTGGTCCTATGCCCAAGCTGGCTGACCGGAAGCTGTGTGCGGACCAGGAGTGCAGCC___ACCCTATCTCCATGGCTGTGGCCCTTCAGGACTACATGGCCCCCGACTGCCGATTCCTGACCATTCACCGGGGCCAAGTGGTGTATGTCTTCTCCAAGCTGAAGGGCCGTGGGCGGCTCTTCTGGGGAGGCAGC___GTTCAGGGAGATTACTATGGAGATCTGGCTGCTCGCCTGGGCTATTTCCCCAGTAGCATTGTCCGAGAGGACCAGACCCTGAAACCTGGCAAAGTCGATGTGAAGACAGAC___ACTTCCTCTTCAAATTCCTGGTGATTGGCAGTGCAGGAACTGGCAAATCATGTCTCCTTCATCAGTTCATTGAGAATAAGT___TCAAA)CAGGACTCCAACCACACAATCGGCGTGGAGTTTGGATCCCGGGTGGTCAACGTGGGTGGGAAGACTGTGAAGCTACAGATTTGGGACACGGCTGGCCAGGAGCGGTTTCG|AATAAGAGAGCCATGGCTGAGCCGAGCGTGGAGCACTGTATCACCTCGCAGGCCATCATGACTTGGAAAAGATTTGGGACCATTGAGAGAGACACTTCTTGCTCAAAGAGAACAAGGATGTAGAGTGGCTGGCAGAGCCCCTGTGAGCAAGCAGCCTGGTGGGGGCAAGAAAGGAGAAGCCACTGATGGATGA . 01BR018 ENSG00000113318.11 ENSG00000248359.2(52000),ENSG00000249335.2(175094) +/+ ./- chr5:80813741 chr5:68617515 CDS/splice-site intergenic inversion 2 0 0 8 0 medium out-of-frame . MutS_domain_I(100%),MutS_domain_II(100%),MutS_domain_III(100%),MutS_domain_V(100%)| . . ENSG00000113318.11 . ENST00000265081.7 . downstream downstream . ^(AGACGCCTGGGAACTGCGGCCGCGGGCTCGCGCTCCTCGCCAGGCCCTGCCGCCGGGCTGCCATCCTTGCCCTGCCATGTCTCGCCGGAAGCCTGCGTCGGGCGGCCTCGCTGCCTCCAGCTCAGCCCCTGCGAGGCAAGCGGTTTTGAGCCGATTCTTCCAGTCTACGGGAAGCCTGAAATCCACCTCCTCCTCCACAGGTGCAGCCGACCAGGTGGACCCTGGCGCTGCAGCGGCTGCAGCGGCCGCAGCGGCCGCAGCGCCCCCAGCGCCCCCAGCTCCCGCCTTCCCGCCCCAGCTGCCGCCGCACATA___GCTACAGAAATTGACAGAAGAAAGAAGAGACCATTGGAAAATGATGGGCCTGTTAAAAAGAAAGTAAAGAAAGTCCAACAAAAGGAAGGAGGAAGTGATCTGGGAATGTCTGGCAACTCTG___AGCCAAAGAAATGTCTGAGGACCAGGAATGTTTCAAAGTCTCTGGAAAAATTGAAAGAATTCTGCTGCGATTCTGCCCTTCCTCAAAGTAGAGTCCAGACAGAATCTCTGCAGGAGAGATTTGCAGTTCTGCCAAAATGTACTGATTTTGATGATATCAGTCTTCTACACGCAAAGAATGCAGTTTCTTCTGAAGATTCGAAACGTCAAATTAATCAAAAG___GACACAACACTTTTTGATCTCAGTCAGTTTGGATCATCAAATACAAGTCATGAAAATTTACAGAAAACTGCTTCCAAATCAGCTAACAAACGGTCCAAAAGCATCTATACGCCGCTAGAATTACAATACATAGAAATGAAGCAGCAGCACAAAGATGCAGTTTTGTGTGTGGAATGTGGATATAAGTATAGATTCTTTGGGGAAGATGCAGAG___ATTGCAGCCCGAGAGCTCAATATTTATTGCCATTTAGATCACAACTTTATGACAGCAAGTATACCTACTCACAGACTGTTTGTTCATGTACGCCGCCTGGTGGCAAAAGGATATAAG___GTGGGAGTTGTGAAGCAAACTGAAACTGCAGCATTAAAGGCCATTGGAGACAACAGAAGTTCACTCTTTTCCCGGAAATTGACTGCCCTTTATACAAAATCTACACTTATTGGAGAAG___ATGTGAATCCCCTAATCAAGCTGGATGATGCTGTAAATGTTGATGAGATAATGACTGATACTTCTACCAGCTATCTTCTGTGCATCTCTGAAAATAAGGAAAATGTTAGGGACAAAAAAAAGGGCAACATTTTTATTGGCATTGTG___GGAGTGCAGCCTGCCACAGGCGAGGTTGTGTTTGATAGTTTCCAGGACTCTGCTTCTCGTTCAGAGCTAGAAACCCGGATGTCAAGCCTGCAGCCAGTAGAGCTGCTGCTTCCTTCGGCCTTGTCCGAGCAAACAGAGGCGCTCATCCACAGAGCCACATCTGTTAG___TGTGCAGGATGACAGAATTCGAGTCGAAAGGATGGATAACATTTATTTTGAATACAGCCATGCTTTCCAGGCAGTTACAGAGTTTTATGCAAAAGATACAGTTGACATCAAAG___GTTCTCAAATTATTTCTGGCATTGTTAACTTAGAGAAGCCTGTGATTTGCTCTTTGGCTGCCATCATAAAATACCTCAAAGAATTCAACTTGGAAAAGATGCTCTCCAAACCTGA___GAATTTTAAACAGCTATCAAGTAAAATGGAATTTATGACAATTAATGGAACAACATTAAGGAATCTGGAAATCCTACAGAATCAG___ACTGATATGAAAACCAAAGGAAGTTTGCTGTGGGTTTTAGACCACACTAAAACTTCATTTGGGAGACGGAAGTTAAAGAAGTGGGTGACCCAGCCACTCCTTAAATTAAG___GGAAATAAATGCCCGGCTTGATGCTGTATCGGAAGTTCTCCATTCAGAATCTAGTGTGTTTGGTCAGATAGAAAATCATCTACGTAAATTGCCCGACATAGAGAGGGGACTCTGTAGCATTTATCACAAAAAA___TGTTCTACCCAAGAGTTCTTCTTGATTGTCAAAACTTTATATCACCTAAAGTCAGAATTTCAAGCAATAATACCTGCTGTTAATTCCCACATTCAGTCAGACTTGCTCCGGACCGTTATTTTAGAAATTCCTGAACTCCTCAGTCCAGTGGAGCATTACTTAAAGATACTCAATGAACAAGCTGCCAA___AGTTGGGGATAAAACTGAATTATTTAAAGACCTTTCTGACTTCCCTTTAATAAAAAAGAGGAAGGATGAAATTCAAGGTGTTATTGACGAGATCCGAATGCATTTGCAAGAAATACGAAAAATACTAAAAAATCCTTCTGCACAATATGTGACAGTATCAGGACAGGAG___TTTATGATAGAAATAAAGAACTCTGCTGTATCTTGTATACCAACTGATTGGGTAAAGGTTGGAAG___CACAAAAGCTGTGAGCCGCTTTCACTCTCCTTTTATTGTAGAAAATTACAGACATCTGAATCAGCTCCGGGAGCAGCTAGTCCTTGACTGCAGTGCTGAATGGCTTGATTTTCTAGA___GAAATTCAGTGAACATTATCACTCCTTGTGTAAAGCAGTGCATCACCTAGCAACTGTTGACTGCATTTTCTCCCTGGCCAAGGTCGCTAAGCAAGGAGATTACTGCAG___ACCAACTGTACAAGAAGAAAGAAAAATTGTAATAAAAAATGGAAGGCACCCTGTGATTGATGTGTTGCT)GGGAGAACAGGATCAATATGTCCCAAATAATACAGATTTATCA___GAGGACTCAGAGAGAGTAATGATAATTACCGGACCAAACATGGGTGGAAAGAGCTCCTACATAAAACAAGTTGCATTGATTACCATCATGGCTCAGATTGGCTCCTATGTTCCTGCAGAAGAAGCGACAATTGGGATTGTGGATGGCATTTTCACAAG|GTAAATATCTGAGTGGAATGACTGGATCATATG___GGACTGGACGTGTGGAAATTACATTTTCTT MSRRKPASGGLAASSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVDPGAAAAAAAAAAAAPPAPPAPAFPPQLPPHIATEIDRRKKRPLENDGPVKKKVKKVQQKEGGSDLGMSGNSEPKKCLRTRNVSKSLEKLKEFCCDSALPQSRVQTESLQERFAVLPKCTDFDDISLLHAKNAVSSEDSKRQINQKDTTLFDLSQFGSSNTSHENLQKTASKSANKRSKSIYTPLELQYIEMKQQHKDAVLCVECGYKYRFFGEDAEIAARELNIYCHLDHNFMTASIPTHRLFVHVRRLVAKGYKVGVVKQTETAALKAIGDNRSSLFSRKLTALYTKSTLIGEDVNPLIKLDDAVNVDEIMTDTSTSYLLCISENKENVRDKKKGNIFIGIVGVQPATGEVVFDSFQDSASRSELETRMSSLQPVELLLPSALSEQTEALIHRATSVSVQDDRIRVERMDNIYFEYSHAFQAVTEFYAKDTVDIKGSQIISGIVNLEKPVICSLAAIIKYLKEFNLEKMLSKPENFKQLSSKMEFMTINGTTLRNLEILQNQTDMKTKGSLLWVLDHTKTSFGRRKLKKWVTQPLLKLREINARLDAVSEVLHSESSVFGQIENHLRKLPDIERGLCSIYHKKCSTQEFFLIVKTLYHLKSEFQAIIPAVNSHIQSDLLRTVILEIPELLSPVEHYLKILNEQAAKVGDKTELFKDLSDFPLIKKRKDEIQGVIDEIRMHLQEIRKILKNPSAQYVTVSGQEFMIEIKNSAVSCIPTDWVKVGSTKAVSRFHSPFIVENYRHLNQLREQLVLDCSAEWLDFLEKFSEHYHSLCKAVHHLATVDCIFSLAKVAKQGDYCRPTVQEERKIVIKNGRHPVIDVLLGEQDQYVPNNTDLSEDSERVMIITGPNMGGKSSYIKQVALITIMAQIGSYVPAEEATIGIVDGIFTr|* 01BR020 ENSG00000158769.18 ENSG00000158796.17(8424),ENSG00000238934.1(96) -/- ./- chr1:161021010 chr1:161141112 CDS/splice-site intergenic duplication 34 13 0 141 22 high out-of-frame . . . . ENSG00000158769.18 . ENST00000621309.4 . upstream downstream . ^(GAGGCAGCTCCTGTGGGGAAAGGCGCCAGTGCGCCGAGGCGGGGAGTGGCGGCGGGGTAACACCTGGCCGAGGTGACTCGTTCTGAAGAGCAGCGGTTCCTTACACCAATCGGAACGTGCAGGGGTGGGGAGCTGGCCAATCAGGCGCGGAGGGCGGGGCCGGGCGGGGTTCCA)CCTGGCGGCTGGCTCTCAGTCCCCTCGCTGTAGTCGCGGAGCTGTGTCTGTTCCCAGGAGTCCTTCGGCGGCTGTTGTGTCGGGAGCCTGATCGCGATGGGGACAAAGGCGCAAGTCGAGAGGAAACTGTTGTGCCTCTTCATATTGGCGATCCTGTTGT|GACACTGGTCCTCCTACGCCTGAGACCGACGTTGCCAGGACCGCAGGGTCAGGGGGACTTGGCTGTCCCCCGTCTTTCAAATAAAGCTGTTTGTCTAAAATAAATAAATAAATAAATAAATAAAT MGTKAQVERKLLCLFILAILL|* 01BR020 ENSG00000155506.17 ENSG00000082515.18 +/+ +/+ chr5:154811640 chr5:154959980 CDS/splice-site CDS/splice-site deletion/read-through 26 15 3 130 241 high in-frame . La_domain(100%)|Ribosomal_protein_L22p/L17e(100%) . . ENSG00000155506.17 ENSG00000082515.18 ENST00000336314.9 ENST00000523037.6 downstream upstream mismatches(2) ^(GCCAGAGCCAGGAGGCAGCTGTGCGATCTGGATGTACCTAAACCCTCCAGGGCCACATAGTGACCCCAGGCCCTGGTCACTCCATGCTTTGGAGGGTGCTTTTGTCAAAGAGGCCTCCTTTCCCTCACCCAGAGCTGGATTTCCAAGAGGCTCCCATACCTAGCTGCCCTGGCAGACTCCCAGGGAGGAAAAACAGCGTGGCCTTGGCAGCTGCCCCGAGGAAGGAGCCCACAGGTGACAGGGAGAAGCCATTGCCATTCCCTGTCCTGGCCCCCTTCAGCAACCCTG___AACACTCTGCTCCAGCCAAGGTGGTGAGGGCAGCTGTTCCTAAACAGCGCAAAGGCAGCAAG___GTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAG___CCACAGTCCCACAAGCCTCAGCCTACCCGTAAACTGCCACCCAAGAAGGACATGAAGGAACAGGAGAAAGGAGAAGGGAGTGATAGTAAGGAGAGTCCAAAAACCAAATCAGATGAATCAGGGGAGGAAAAGAATGGAGATGAGGATTGCCAGCGAGGCGGGCAGAAGAAGAAAG___GAAACAAACACAAGTGGGTTCCATTACAAATAGACATGAAGCCTGAAGTGCCCAGAGAGAAACTGGCTTCACGCCCCACTCGCCCACCGGAGCCTAGACACATACCTGCCAATCGCGGAGAGATCAAAG___GGTCTGAGTCTGCCACCTACGTGCCCGTGGCCCCCCCCACCCCAGCCTGGCAACCAGAGATCAAACCGGAGCCTGCCTGGCACGACCAGGATGAGACATCGAGTGTGAAGAGTGATGGGGCTGGTGGGGCGCGGGCTTCCTTCCGTGGCCGTGGACGGGGGCGTGGTCGCGGCCGGGGACGCGGCCGGGGTGGCACTCGAA___CCCATTTTGACTACCAGTTTGGCTACCGAAAGTTTGATGGTGTGGAGGGGCCTCGTACGCCCAAGTACATGAACAACATCACCTACTACTTTGACAATGTCAGCAGCACCGAGCTTTACAGTGTGGATCAGGAACTGCTCAAAGACTACATCAAGCGCCAGAT___TGAATACTACTTCAGCGTGGACAATTTAGAGCGAGACTTCTTCCTGCGAAGGAAAATGGATGCTGATGGTTTCCTACCCATCACCCTTATTGCTTCCTTCCACCGAGTGCAGGCCCTTACCACTGACATTTCACTCATCTTTGCG___GCCCTAAAGGACAGCAAGGTGGTGGAGATCGTTGATGAGAAAGTTCGTAGGAGGGAGGAACCAGAAAAGTGGCCTCTTCCCCCAATAGTGGATTATTCACAGACTGATTTCTCCCAGCTTCTCAACTGCCCTGAATTTGTTCCCCGTCAGCACTACCAAAAGGAGACAG___AGTCGGCACCTGGCTCTCCTCGTGCAGTCACCCCAGTGCCAACCAAAACAGAGGAGGTCAGCAACCTAAAGACACTACCCAAGGGCCTGTCTGCCAGCCTGCCTGACCTGGATTCTGAGAACTGGATTGAAGTGAAGAAGAGGCCTCGGCCATCCCCAGCACGGCCCAAG___AAGTCAGAGGAGTCCAGATTTTCCCACCTGACCTCTCTGCCTCAGCAGCTGCCTTCCCAGCAGCTGATGTCCAAGGATCAGGATGAGCAAGAGGAACTGGATTTTCTGTTTGACGAGGAGATGGAGCAGATGGATGGGCGGAAGAACACCTTCACTGCCTGGTCTGATGAGGAATCTGACTATGAGATTGATGACAGGGATGTCAACAAGATCCTCATTGTCACCCAGACACCACATTACATGCGCCGGCACCCAGGGGGGGACCGCACAGGCAACCACACCTCGCGTGCCAAGATGAGCGCCGAACTGGCCAAGGTCATTAATGATGGCCTCTTCTACTATGAGCAGGACCTGTGGGCTGAAAAGTTTGAACCTGAGTATTCCCAGATCAAG___CAAGAAGTCGAGAACTTCAAAAAGGTCAATATGATCAGCCGGGAGCAGTTTGACACACTGACCCCTGAGCCCCCTGTGGATCCCAACCAGGAAGTTCCTCCTGGGCCACCTCGGTTCCAGCAAG___TTCCTACGGATGCCCTGGCCAACAAGTTGTTTGGTGCTCCTGAGCCCTCCACCATCGCCCGCTCTCTACCAACCACTGTCCCAGAGTCACCAAACTACCGCAACACCAGGACCCCTCGCACTCCCCGGACACCACAGCTCAAAGACTCAAGCCAGACATCACGGTTTTACCCAGTGGTGAAAGAAGGACGGACACTGGATGCCAAG___ATGCCTCGAAAAAGAAAGACAAGACACAGTTCAAACCCACCCTTGGAGAGCCATGTGGGCTGGGTGATGGATTCCCGTGAGCACAGGCCCCGTACTGCTTCCATCAG___CTCCAGCCCCTCAGAAGGGACGCCTACAGTTGGCAGCTATGGCTGTACCCCTCAGTCATTGCCCAAGTTCCAGCATCCTTCCCATGAACTGCTCAAGGAAAATGGCTTCACACAACACGTCTACCATAAGTATCGTAGGCGCTGCCTTAATG___AGCGGAAACGCTTGGGCATTGGCCAGTCTCAGGAGATGAACACACTCTTCCGCTTCTGGTCCTTCTTCCTCCGAGATCACTTCAACAAAAAGATGTATGAGGAGTTCAAGCAGCTGGCTC)TGGAGGACGCCAAAGAAGGCTACAG___ATATGGTTTGGAGTGCCTTTTTCGATACTACAGTTATGGCCTGGAAAAGAAGTTCCGGCTGGACATATTCAAGGATTTTCAGGAGGAAACGGTGAAGGACTATGAAGCTG___GCCAACTGTATGGGCTGGAGAAGTTCTGGGCCTTCTTGAAATATTCCAAAGCCAAAAATTTGGACATTGACCCCAAACTGCAAGAATACCTCGGCAAATTCCGACGTCTTGAAGACTTCCGAGTAGAT|GTTCTCTTAGAAGCACAAGATATGGCAGTGAGAGACCATAACGTGGAATTCAGGTCCAATTTATATATAG___CTGAGTCCACCTCAGGACGAGGCCAGTGCCTGAAACGCATCCGCTACCATGGCAGAGGTCGCTTTGGGATCATGGAGAAGGTTTATTGCCATTATTTTGTGAAGTTGGTGGAAGGGCCCCCACCTCCACCTGAGCCACCAAAGACGGCAGTTGCCCATGCCAAAGAGTATATTCAGC(AGCTTCGCAGCCGGACCATCGTTCACACTCTATGATGAGGAGATTCAGACTCCACAGTGTATATATTTTGCCATTTATTTTCTAAAAATAAACAAAAATTGAAGGCAAATGCTTTTTATGATTTCTCATTGAATTATTGAAACAGTGTATAACTGCTAGTTGTAAATGAATATTTATAAGGCTTTGCCCATTTCTTTTGAGCCTCTGGGCATATTTGTATGCATTTGCGACTTGGAAGGGGAAATCAGCTTTAAACATAGTAACAGACTATATTTCAAAAGGCTTTTGGAGTAACTTTGAAAGGGAATGTTAACTTTCCAACTAGTGTCCTGCAGGTGGCTGTTTTGATACTGGACTTGAATACAGTGTTATGAGGTAAGAAAATTGCTTTTATTTCACTTAATTTTCTCTTGGGACCATGGGAAGTTAGAGTGGCTGCATGTTGTTTCATTACAGTATTTTAGGGTGTTCAGTGGTACCGTTTTTCCTTTCACTGTTGGCACAGGCCAGTGAGTCAAAAATTATATTTTCCTTTACTGTTTTAGCAGTAACTCGAAACTACAGGAGTTTATTAGATATACGAATCTAAAACTCCAAAAACCTTTAACTTTGAAAATTTTCTTTTGGTTAAGCAAAGCCTGTTTTTATTTCTTCTTCCAACAGTGCTTTATATTGTTTGGATATCTTGTTTAGGATTGATTTATTTTTCAGGGTAAATTCAATTACTGAGAGAGGAATTGAACCAATCTCAGCATTGCATTCTAAAATGGGGCAGTAGGTGGCACTCAACCTTTTATTAGCAGAAAATTGTTAGTTTCAAATTAGAGTGTTCAACACTGCTTCCCTCTCATTCATACACGTCTTCATTAAGAAGAAGTACTCTTTGTCTACAGCCCTAGTCCAACTTTTGCATGCAAAAGAAGAATCGAGGATGCTTGCTTGTTAATGCAGACTTCTGGGCCCCACCCCAATGATTCAATTCACTAGGTCTTATGGGGGGCTGGTTTCAGAAATCTATGTTTTAAACAAACACTTCCAGGTAATTCTGTTGTAGGGGACTACGCTTTGAGAATACGGCTTTAGGAGAATGAAAAAATGTAGTTTTATTGCCATGTTTTAAGATGGCATTAATAATAGTTACTGTTTACTGGGAACTTGTTATTTGCAAGCTCTGTGCTAGTATTTTACATAATTCTTCACAACATCCTGAAAATGTAGCTTTTGTTTTACCACTTTACAAAGGAATAAACCGAAGCACACAGAATTCAAATAACTATCACAAGTCACACAGCATGTAAATATTGGGGCTATGATTGAAAGGTTTCTAAAGTAGCTGGTTCTGCATACCTTTTGAGTATACAGCTGGGTTTTTGTGTCTCTCCAGTTAACCTAATGCATGGGTAAAAAGACATCAGGGGTCAGTGGAATAAACCAAGGTGTAGGACAGATTCATTCTGGGTCCTAAGCTGTTGTAGCATGGAGTCAGGGAAATAACACTGGAATATTAAAAGGTAACCTTCATTCTAGTCTGTGCATTCTCATTAGCCAGAAAGAAGACTGGATAGGTCTCTTCCCTTGCTGGCCTCCATTTCATTCATTTATGAAACAAGAGACTCAATGTTCTCTGTAGAAAACCTTTTTTAGAATCACTTGAAGAATTTGTTTAAAAATGCAAATTCCTGGGCTCTACTCTCAGACTAAGTGAATCAGAAGCTTTGGTGTGGGAGACCATGGAACCTGCAGTTTTAATAAATGCCCCAGTGATTTGCATGTTGGAGAATTATCACACCAGGTCACTGTGCTCTCATGTGGTGGGGATGCTCCACGATTGCTCTTGGAGTTGTGACTTCCTTGGGTGTGACTAAAGCCAGGTGGTGCCATGGACATCATAAATATAAATTATGTAAGTGAAGGCACTGCTTCAGTCAGGCTGTAAAAGCTATTTTGAAAGTGGTAAGGAAAAAGTAGGATTGTAATGAAGAAAATTTCCTTCCCAGGTTAAGCCTTCATTTGGAACTGCTTCCAGTACGTTACAAAAAGTAATAATAGCTAACCTGTGTCACTGACTGTATCTGGTACTATTTTAAGCACTATATATACATTATCTCAATGAATCTTTCCCATTGTGACATCCGGCTAGTTTTCGTGGCTAAGAGTGTACTTTCTAACATCCATGAACATTGTGGTCCCCACCTGAAGTTTCACTTTGCATGTTCAGTGATATGGTTTGGCTCTGTGTTCCCACCCAATCTTATCTCAAATTGTAATCCCCATGTGTCCAGGGAGGGACCTGTAATCCCCACCTAGTGACGGAGGGAGGTGATTGATGATGGGTGTGGTGTACCCCATGCTGTTCTCGTGATAGTGAGTGGGTTCTCATGAGATCTGATGGTTTTATAAGTGTTTGAAAGTTCCCTCTTCACTCGCTGTCTTGCCTGCTGCCATGTAAAATGTGCCTACTTCACCCTCTGCCATGATTGTAAGTTTCCTGAGGCCTCCCCAGCCATGCAGAACTTTGACACAATTAAATGTCTTTTCTTTATAAATTA)$ MLWRVLLSKRPPFPHPELDFQEAPIPSCPGRLPGRKNSVALAAAPRKEPTGDREKPLPFPVLAPFSNPEHSAPAKVVRAAVPKQRKGSKVGDFGDAINWPTPGEIAHKSVQPQSHKPQPTRKLPPKKDMKEQEKGEGSDSKESPKTKSDESGEEKNGDEDCQRGGQKKKGNKHKWVPLQIDMKPEVPREKLASRPTRPPEPRHIPANRGEIKGSESATYVPVAPPTPAWQPEIKPEPAWHDQDETSSVKSDGAGGARASFRGRGRGRGRGRGRGRGGTRTHFDYQFGYRKFDGVEGPRTPKYMNNITYYFDNVSSTELYSVDQELLKDYIKRQIEYYFSVDNLERDFFLRRKMDADGFLPITLIASFHRVQALTTDISLIFAALKDSKVVEIVDEKVRRREEPEKWPLPPIVDYSQTDFSQLLNCPEFVPRQHYQKETESAPGSPRAVTPVPTKTEEVSNLKTLPKGLSASLPDLDSENWIEVKKRPRPSPARPKKSEESRFSHLTSLPQQLPSQQLMSKDQDEQEELDFLFDEEMEQMDGRKNTFTAWSDEESDYEIDDRDVNKILIVTQTPHYMRRHPGGDRTGNHTSRAKMSAELAKVINDGLFYYEQDLWAEKFEPEYSQIKQEVENFKKVNMISREQFDTLTPEPPVDPNQEVPPGPPRFQQVPTDALANKLFGAPEPSTIARSLPTTVPESPNYRNTRTPRTPRTPQLKDSSQTSRFYPVVKEGRTLDAKMPRKRKTRHSSNPPLESHVGWVMDSREHRPRTASISSSPSEGTPTVGSYGCTPQSLPKFQHPSHELLKENGFTQHVYHKYRRRCLNERKRLGIGQSQEMNTLFRFWSFFLRDHFNKKMYEEFKQLALEDAKEGYRYGLECLFRYYSYGLEKKFRLDIFKDFQEETVKDYEAGQLYGLEKFWAFLKYSKAKNLDIDPKLQEYLGKFRRLEDFRVD|VLLEAQDMAVRDHNVEFRSNLYIAESTSGRGQCLKRIRYHGRGRFGIMEKVYCHYFVKLVEGPPPPPEPPKTAVAHAKEYIQQLRSRTIVHTL* 01BR020 ENSG00000155506.17 ENSG00000082515.18 +/+ +/+ chr5:154811640 chr5:154966686 CDS/splice-site CDS/splice-site deletion/read-through 1 2 2 130 270 medium out-of-frame . La_domain(100%)|Ribosomal_protein_L22p/L17e(100%) . . ENSG00000155506.17 ENSG00000082515.18 ENST00000336314.9 ENST00000523037.6 downstream upstream . ^(GCCAGAGCCAGGAGGCAGCTGTGCGATCTGGATGTACCTAAACCCTCCAGGGCCACATAGTGACCCCAGGCCCTGGTCACTCCATGCTTTGGAGGGTGCTTTTGTCAAAGAGGCCTCCTTTCCCTCACCCAGAGCTGGATTTCCAAGAGGCTCCCATACCTAGCTGCCCTGGCAGACTCCCAGGGAGGAAAAACAGCGTGGCCTTGGCAGCTGCCCCGAGGAAGGAGCCCACAGGTGACAGGGAGAAGCCATTGCCATTCCCTGTCCTGGCCCCCTTCAGCAACCCTG___AACACTCTGCTCCAGCCAAGGTGGTGAGGGCAGCTGTTCCTAAACAGCGCAAAGGCAGCAAG___GTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAG___CCACAGTCCCACAAGCCTCAGCCTACCCGTAAACTGCCACCCAAGAAGGACATGAAGGAACAGGAGAAAGGAGAAGGGAGTGATAGTAAGGAGAGTCCAAAAACCAAATCAGATGAATCAGGGGAGGAAAAGAATGGAGATGAGGATTGCCAGCGAGGCGGGCAGAAGAAGAAAG___GAAACAAACACAAGTGGGTTCCATTACAAATAGACATGAAGCCTGAAGTGCCCAGAGAGAAACTGGCTTCACGCCCCACTCGCCCACCGGAGCCTAGACACATACCTGCCAATCGCGGAGAGATCAAAG___GGTCTGAGTCTGCCACCTACGTGCCCGTGGCCCCCCCCACCCCAGCCTGGCAACCAGAGATCAAACCGGAGCCTGCCTGGCACGACCAGGATGAGACATCGAGTGTGAAGAGTGATGGGGCTGGTGGGGCGCGGGCTTCCTTCCGTGGCCGTGGACGGGGGCGTGGTCGCGGCCGGGGACGCGGCCGGGGTGGCACTCGAA___CCCATTTTGACTACCAGTTTGGCTACCGAAAGTTTGATGGTGTGGAGGGGCCTCGTACGCCCAAGTACATGAACAACATCACCTACTACTTTGACAATGTCAGCAGCACCGAGCTTTACAGTGTGGATCAGGAACTGCTCAAAGACTACATCAAGCGCCAGAT___TGAATACTACTTCAGCGTGGACAATTTAGAGCGAGACTTCTTCCTGCGAAGGAAAATGGATGCTGATGGTTTCCTACCCATCACCCTTATTGCTTCCTTCCACCGAGTGCAGGCCCTTACCACTGACATTTCACTCATCTTTGCG___GCCCTAAAGGACAGCAAGGTGGTGGAGATCGTTGATGAGAAAGTTCGTAGGAGGGAGGAACCAGAAAAGTGGCCTCTTCCCCCAATAGTGGATTATTCACAGACTGATTTCTCCCAGCTTCTCAACTGCCCTGAATTTGTTCCCCGTCAGCACTACCAAAAGGAGACAG___AGTCGGCACCTGGCTCTCCTCGTGCAGTCACCCCAGTGCCAACCAAAACAGAGGAGGTCAGCAACCTAAAGACACTACCCAAGGGCCTGTCTGCCAGCCTGCCTGACCTGGATTCTGAGAACTGGATTGAAGTGAAGAAGAGGCCTCGGCCATCCCCAGCACGGCCCAAG___AAGTCAGAGGAGTCCAGATTTTCCCACCTGACCTCTCTGCCTCAGCAGCTGCCTTCCCAGCAGCTGATGTCCAAGGATCAGGATGAGCAAGAGGAACTGGATTTTCTGTTTGACGAGGAGATGGAGCAGATGGATGGGCGGAAGAACACCTTCACTGCCTGGTCTGATGAGGAATCTGACTATGAGATTGATGACAGGGATGTCAACAAGATCCTCATTGTCACCCAGACACCACATTACATGCGCCGGCACCCAGGGGGGGACCGCACAGGCAACCACACCTCGCGTGCCAAGATGAGCGCCGAACTGGCCAAGGTCATTAATGATGGCCTCTTCTACTATGAGCAGGACCTGTGGGCTGAAAAGTTTGAACCTGAGTATTCCCAGATCAAG___CAAGAAGTCGAGAACTTCAAAAAGGTCAATATGATCAGCCGGGAGCAGTTTGACACACTGACCCCTGAGCCCCCTGTGGATCCCAACCAGGAAGTTCCTCCTGGGCCACCTCGGTTCCAGCAAG___TTCCTACGGATGCCCTGGCCAACAAGTTGTTTGGTGCTCCTGAGCCCTCCACCATCGCCCGCTCTCTACCAACCACTGTCCCAGAGTCACCAAACTACCGCAACACCAGGACCCCTCGCACTCCCCGGACACCACAGCTCAAAGACTCAAGCCAGACATCACGGTTTTACCCAGTGGTGAAAGAAGGACGGACACTGGATGCCAAG___ATGCCTCGAAAAAGAAAGACAAGACACAGTTCAAACCCACCCTTGGAGAGCCATGTGGGCTGGGTGATGGATTCCCGTGAGCACAGGCCCCGTACTGCTTCCATCAG___CTCCAGCCCCTCAGAAGGGACGCCTACAGTTGGCAGCTATGGCTGTACCCCTCAGTCATTGCCCAAGTTCCAGCATCCTTCCCATGAACTGCTCAAGGAAAATGGCTTCACACAACACGTCTACCATAAGTATCGTAGGCGCTGCCTTAATG___AGCGGAAACGCTTGGGCATTGGCCAGTCTCAGGAGATGAACACACTCTTCCGCTTCTGGTCCTTCTTCCTCCGAGATCACTTCAACAAAAAGATGTATGAGGAGTTCAAGCAGCTGGCTCTGGAGGACGCCAAAGAAGGCTACAG___ATATGGTTTGGAGTGCCTTTTTCGATACTACAGTTATGGCCTGGAAAAGAAGTTCCGGCTGGACATATTCAAGGATTTTCAGG)AGGAAACGGTGAAGGACTATGAAGCTG___GCCAACTGTATGGGCTGGAGAAGTTCTGGGCCTTCTTGAAATATTCCAAAGCCAAAAATTTGGACATTGACCCCAAACTGCAAGAATACCTCGGCAAATTCCGACGTCTTGAAGACTTCCGAGTAGAT|CTGAGTCCACCTCAGGACGAGGCCAGTGCCTGAAACGCATCCGCTACCATGGCAGAGGTCGCTTTGGGATCATGGAGAAGGTTTATTGCCATTATTTTGTGAAGTTGGTGGAAGGGCCCCCACCTCCACCTGAGCCACCAAAGACGGCAGTTGCCCATGCCAAAGAGTATATTCAGCAGCTTCGCAGCCGGACCATCGTTCAC(ACTCTATGATGAGGAGATTCAGACTCCACAGTGTATATATTTTGCCATTTATTTTCTAAAAATAAACAAAAATTGAAGGCAAATGCTTTTTATGATTTCTCATTGAATTATTGAAACAGTGTATAACTGCTAGTTGTAAATGAATATTTATAAGGCTTTGCCCATTTCTTTTGAGCCTCTGGGCATATTTGTATGCATTTGCGACTTGGAAGGGGAAATCAGCTTTAAACATAGTAACAGACTATATTTCAAAAGGCTTTTGGAGTAACTTTGAAAGGGAATGTTAACTTTCCAACTAGTGTCCTGCAGGTGGCTGTTTTGATACTGGACTTGAATACAGTGTTATGAGGTAAGAAAATTGCTTTTATTTCACTTAATTTTCTCTTGGGACCATGGGAAGTTAGAGTGGCTGCATGTTGTTTCATTACAGTATTTTAGGGTGTTCAGTGGTACCGTTTTTCCTTTCACTGTTGGCACAGGCCAGTGAGTCAAAAATTATATTTTCCTTTACTGTTTTAGCAGTAACTCGAAACTACAGGAGTTTATTAGATATACGAATCTAAAACTCCAAAAACCTTTAACTTTGAAAATTTTCTTTTGGTTAAGCAAAGCCTGTTTTTATTTCTTCTTCCAACAGTGCTTTATATTGTTTGGATATCTTGTTTAGGATTGATTTATTTTTCAGGGTAAATTCAATTACTGAGAGAGGAATTGAACCAATCTCAGCATTGCATTCTAAAATGGGGCAGTAGGTGGCACTCAACCTTTTATTAGCAGAAAATTGTTAGTTTCAAATTAGAGTGTTCAACACTGCTTCCCTCTCATTCATACACGTCTTCATTAAGAAGAAGTACTCTTTGTCTACAGCCCTAGTCCAACTTTTGCATGCAAAAGAAGAATCGAGGATGCTTGCTTGTTAATGCAGACTTCTGGGCCCCACCCCAATGATTCAATTCACTAGGTCTTATGGGGGGCTGGTTTCAGAAATCTATGTTTTAAACAAACACTTCCAGGTAATTCTGTTGTAGGGGACTACGCTTTGAGAATACGGCTTTAGGAGAATGAAAAAATGTAGTTTTATTGCCATGTTTTAAGATGGCATTAATAATAGTTACTGTTTACTGGGAACTTGTTATTTGCAAGCTCTGTGCTAGTATTTTACATAATTCTTCACAACATCCTGAAAATGTAGCTTTTGTTTTACCACTTTACAAAGGAATAAACCGAAGCACACAGAATTCAAATAACTATCACAAGTCACACAGCATGTAAATATTGGGGCTATGATTGAAAGGTTTCTAAAGTAGCTGGTTCTGCATACCTTTTGAGTATACAGCTGGGTTTTTGTGTCTCTCCAGTTAACCTAATGCATGGGTAAAAAGACATCAGGGGTCAGTGGAATAAACCAAGGTGTAGGACAGATTCATTCTGGGTCCTAAGCTGTTGTAGCATGGAGTCAGGGAAATAACACTGGAATATTAAAAGGTAACCTTCATTCTAGTCTGTGCATTCTCATTAGCCAGAAAGAAGACTGGATAGGTCTCTTCCCTTGCTGGCCTCCATTTCATTCATTTATGAAACAAGAGACTCAATGTTCTCTGTAGAAAACCTTTTTTAGAATCACTTGAAGAATTTGTTTAAAAATGCAAATTCCTGGGCTCTACTCTCAGACTAAGTGAATCAGAAGCTTTGGTGTGGGAGACCATGGAACCTGCAGTTTTAATAAATGCCCCAGTGATTTGCATGTTGGAGAATTATCACACCAGGTCACTGTGCTCTCATGTGGTGGGGATGCTCCACGATTGCTCTTGGAGTTGTGACTTCCTTGGGTGTGACTAAAGCCAGGTGGTGCCATGGACATCATAAATATAAATTATGTAAGTGAAGGCACTGCTTCAGTCAGGCTGTAAAAGCTATTTTGAAAGTGGTAAGGAAAAAGTAGGATTGTAATGAAGAAAATTTCCTTCCCAGGTTAAGCCTTCATTTGGAACTGCTTCCAGTACGTTACAAAAAGTAATAATAGCTAACCTGTGTCACTGACTGTATCTGGTACTATTTTAAGCACTATATATACATTATCTCAATGAATCTTTCCCATTGTGACATCCGGCTAGTTTTCGTGGCTAAGAGTGTACTTTCTAACATCCATGAACATTGTGGTCCCCACCTGAAGTTTCACTTTGCATGTTCAGTGATATGGTTTGGCTCTGTGTTCCCACCCAATCTTATCTCAAATTGTAATCCCCATGTGTCCAGGGAGGGACCTGTAATCCCCACCTAGTGACGGAGGGAGGTGATTGATGATGGGTGTGGTGTACCCCATGCTGTTCTCGTGATAGTGAGTGGGTTCTCATGAGATCTGATGGTTTTATAAGTGTTTGAAAGTTCCCTCTTCACTCGCTGTCTTGCCTGCTGCCATGTAAAATGTGCCTACTTCACCCTCTGCCATGATTGTAAGTTTCCTGAGGCCTCCCCAGCCATGCAGAACTTTGACACAATTAAATGTCTTTTCTTTATAAATTA)$ MLWRVLLSKRPPFPHPELDFQEAPIPSCPGRLPGRKNSVALAAAPRKEPTGDREKPLPFPVLAPFSNPEHSAPAKVVRAAVPKQRKGSKVGDFGDAINWPTPGEIAHKSVQPQSHKPQPTRKLPPKKDMKEQEKGEGSDSKESPKTKSDESGEEKNGDEDCQRGGQKKKGNKHKWVPLQIDMKPEVPREKLASRPTRPPEPRHIPANRGEIKGSESATYVPVAPPTPAWQPEIKPEPAWHDQDETSSVKSDGAGGARASFRGRGRGRGRGRGRGRGGTRTHFDYQFGYRKFDGVEGPRTPKYMNNITYYFDNVSSTELYSVDQELLKDYIKRQIEYYFSVDNLERDFFLRRKMDADGFLPITLIASFHRVQALTTDISLIFAALKDSKVVEIVDEKVRRREEPEKWPLPPIVDYSQTDFSQLLNCPEFVPRQHYQKETESAPGSPRAVTPVPTKTEEVSNLKTLPKGLSASLPDLDSENWIEVKKRPRPSPARPKKSEESRFSHLTSLPQQLPSQQLMSKDQDEQEELDFLFDEEMEQMDGRKNTFTAWSDEESDYEIDDRDVNKILIVTQTPHYMRRHPGGDRTGNHTSRAKMSAELAKVINDGLFYYEQDLWAEKFEPEYSQIKQEVENFKKVNMISREQFDTLTPEPPVDPNQEVPPGPPRFQQVPTDALANKLFGAPEPSTIARSLPTTVPESPNYRNTRTPRTPRTPQLKDSSQTSRFYPVVKEGRTLDAKMPRKRKTRHSSNPPLESHVGWVMDSREHRPRTASISSSPSEGTPTVGSYGCTPQSLPKFQHPSHELLKENGFTQHVYHKYRRRCLNERKRLGIGQSQEMNTLFRFWSFFLRDHFNKKMYEEFKQLALEDAKEGYRYGLECLFRYYSYGLEKKFRLDIFKDFQEETVKDYEAGQLYGLEKFWAFLKYSKAKNLDIDPKLQEYLGKFRRLEDFRVD|lsppqdeasa* 01BR020 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 20 9 0 132 92 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(2),mismatches(3) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATC)TCGATGGAAGGCTCTTGATGAAATGGAAAAGaAGCAGaGTGAGgAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKkQsEeVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR020 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 18 10 0 31 31 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismatches(2) GCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACA(GGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR020 ENSG00000270149.5 ENSG00000158796.17(8424),ENSG00000238934.1(96) -/- ./- chr1:161021010 chr1:161141112 3'UTR/splice-site intergenic duplication 12 13 0 141 22 high stop-codon . . . . ENSG00000270149.5 . ENST00000289779.7 . upstream downstream mismatches(1) ^(GCCGAGAGGGCGGGCCAGGGCCGCACTCCGGAGACTCGCGGTTGCTACGCGCACCATGGCTGGAG___ACGGAGTTTCGCTCTTGATGCCCAGCAGGCTGGAGTGCAATGGCGCGATTTCAGCTCACTGCAACCTCCTCCTCCCAG___AGGTACTTCTCAGCCCTCTAGCTCCAACTGAGAACCCAGCCAGTCAGGAAGTCGCTACTTCGGGAACACCAACCAATCAGGGGGCCGTCACCTGCTGAAG___)GAGTCCTTCGGCGGCTGTTGTGTCGGGAGCCTGATCGCGATGGGGACAAAGGCGCAAGTCGAGAGGAAACTGTTGTGCCTCTTCATATTGGCGATCCTGTTGT|GACACTGGTCCTCCTACGCCTGAGACCGACGTTGCCAGGACCGCAGGGTCAGGGGGACTTGGCTGTCCCCCGTCTTTCAAATAAAGCTGTTTGTCTAAAATAAATAAATAAATAAATAAATAAAT . 01BR020 ENSG00000185651.15 ENSG00000100023.19 +/+ +/+ chr22:21592956 chr22:21693816 CDS/splice-site CDS/splice-site deletion/read-through 6 10 0 220 45 high out-of-frame . Ubiquitin-conjugating_enzyme(100%)|Cyclophilin_type_peptidyl-prolyl_cis-trans_isomerase/CLD(100%) . . ENSG00000185651.15 ENSG00000100023.19 ENST00000342192.9 ENST00000335025.12 downstream upstream duplicates(1) ^(ATTCTGGGGAA)GGAGCAGCACCAAATCCAAGATGGCGGCCAGCAGGAGGCTGATGAAG___GAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCT|CTTCATCACGTTTCGCTCCTGTGCCTACCTGGACAAGAAGCATACCATCTTTGGACG___GGTTGTTGGGGGCTTTGACGTACTGACAGCCATGGAGAATGTGGAGAGTGACCCCAAAACTGACCGCCCTAAG(___GAGGAGATCCGCATTGATGCCACTACAGTGTTCGTGGACCCCTATGAGGAGGCCGATGCCCAG___ATTGCGCAGGAGCGGAAGACACAGCTCAAGGTAGCCCCGGAGACCAAAGTGAAGAGCAGCCAGCCCCAGGCAGGGAGCCAGGGCCCCCAGACCTTCCGCCAGGGCGTGGGCAAGTACATCAACCCAGCAGCCAC___GAAGCGAGCAGCAGAGGAAGAGCCCTCAACCAGTGCCACTGTCCCCATGTCCAAGAAGAAGCCCAGTCGGGGTTTTGGGGACTTCAGCTCCTGGTAGCAGCAG___CAACTTGCAGGCTGTACCTCTGCCCTTCCTTTTCTCATCAATCACTGATGCTGAAGCTGCAGGCCTGAGCCCTTTGTCTCCCTGGATGCTGGGTGGCGCCTCATCTGCATCTCTGCCTCACCCCATCCACTGCCACAGGCTGCCTGATGACCACTAGAGGTATGTCTGCCCCTCGTCACCCTGCTGCACACCAATCTGTGGCCCTTCATCATGCTAAGAACAAGAACTGCGCCATGGCTGGCTCCTTCTCTTCTCCAGCCCATCCCTCTGCAGCCTGTCATCCCTGTCTGTGACCATTGGTCGGGCCCCTGGGCTCTAGAGTGACTTTTGACGCCCTCCATCCCTCCCGCCAGGCACTGTCCTCCGCAAGGCCTGGTGCAGCCCTGGCAGTAACTGGCTTGTAAGAGGCTCAGACACCAAGCTGGGCCTGCAGAGGAGGGGCACAGTAGGACACAGTGACTGCCCAGGTGTCCACACACCTGTAGGCCTCTGAGCCAGCGTCCAGGGTACAGGTGCGGGTGGTGGGGATGAAGGCCTGACCAGGGAGGGAGAAGCAGGTTTGGAGAGGACCCTGTGCCCACCCTGACAGACACCCTGGCTGGCCCTGACTGACTGTATTCTCTGGCCACATTCAAGTCCCCCATTGGTGGGGGCAGAGAAGTAGGACCAGGCCATCCTTGGCTCCAGAGCTCGAAGACCCCAAGACAGCCCTCTGCTCTCAGCGGCGCCACAGAGAGCCTGGGCTCAGCCTTCTGCATCAGGACATGGCCTCGTCCACTGAGGGCACGATTTAAACATTTGACATCAGAAGCTTTATTTGTAAACCTCACACAGATAAGGACCAAGGGCTGGCGGTGTGGCCAGAGGACAGGGGAAGCTGAAGGCCCCGTGCTTGAGCTCGGCAGTCCTGCTCCTTGCAGTGAAGCCACCATGGGTGACCGTCCAGCCTCACCCGGTGGCCTGCACAGTGAGGGAAGGGCTTCAGGGCCATCTGCTCCCAGGGCAGGGGACAGGCCACCAAGGACCTTTGGCAAATGAAGGTTTACATTTCTGTAGTTTGTTTGTTTTAGAGCTTAATTTGTAGTTTTTTAGCTATTAAAACCATTTGAATTTTTAACGACCTGATGAGGGCATCAGGTAAATTAAAGGATTTTGGGAAGATTCTTATTTTCAATTCTAATATCTGACAGATGCCATCAAGAATAAGCATTAAGGTATAAAAAATACTGTGTGTATAAAACAATGCCAAACCACATTCCTACAGCAAATGCACTGTGCCATTTATAACCCTGACATCACCTCCCAAGGCTCTCAAGGAAGATTTATTTTAAATAACTTAAATAGAAGTCCTAGATGATATTGTTTAGGAATTTAAGAGGGTGGTGGATATGGTCCTGTGAATAGCACTTCCCCTGAAGCCAGCTCATGGTCTGTTCATTTGGTTTAAAAATGAGCTTGTATTTTGCAGAAGCCCAACAAAAAAAAAGTGATAAAAGTGTTGTTGGTATAAATTACAAAAAAAAAAAAAAATACAAAAGTCATAAGACTACTAGTAAAAAATGTTCAATCAATGCCGTCACAAAAGACAGTACAAAAACCAAAGTGCCCAAATAGAAGGAGCAGCGAACTTGCCCAAAACAGAAAAGCTCTAAATAGAACTTTAGTATATACAAAAACCACTCGGTAGAGTTTTAGAAGTTTCTTCCATGTAAGTGAAGCATCTTGAGTCACTCAGGACTTGGCTGTCCTCGCACCCGTGGCAGGCTGGGGACGGCACGAACCTCCAACTGTTTCCCCTAGTCCCCGGGGCATCGGAGGCTGGGTTCCCACATGGGAGAGGAATGAAGACTCACTCAAAGGGAAGGGTCAGTTTAAGATAAGTTTTCAGTGAACTCCTTCTTCCACCCGGGAAGGTGTCTTTCAGCCTCTTCACAGTCTCAAGACAATTGACTGAAGCCACAGGCATTGCTAACTTCATGGGCCAGCTTGTGGGCGGAGCCTCTTCAGGCTTGAGACCATGGCAGCAAGAGCCCTGCAGCGTGCAGTGACCCCTGCGCTCTGGGTGGCTGCACGCGAGCTCAGGAGGACAGGATGTGCTGGGCCAGCCTAAACCCTCGGGGGAGACTAGCGCAGGGATAAAGCAGCTTGCAGGGCCATAGCCGGATGTGGAGGCTTCCAAGACAGTACAAAGATTTCCTTCCTTTCCTAAGTGGAAGATGTGCTTTAAAGGAACTTCTGCCTCTGTCACTCCTGCTGAGTGGATGCATCTCAGTGCCATGCCCACCAGGGCAGCGGCATTTCCCACCTGCCAAGGCTTCCAGGCTTGGGCAAAGAGATGGCACCCAAAGGCATGCTGTGTGTGGGCAGTGAGCTCGAGTGGGCACAGCCCAGTGCCTGCCTGGACCGCAGGTCTGGGTTTAGGAAGGGCTGAAGTCGGGGGAGGTGTGAAGCTGGGCAGGTGGCCACGTTCTTATTGTCAGCCAGCTCGCACTCTTGCCCCTAGACTAGCCTTGTCTGAAGGCAGCTTCAGAGCCACTTGCCAGGCTGAGAACTATCCGGGCTCAGTGCTCTCCTATCTGCTGCCCCTCGGTCCCCCTGCCTGCCCTCTGCCCTGAGACAAGTTACTAAATGTTGAAAACCAAACTTATCTGGGAGTGGTTTTTGACCTCCATCCTCTGCAAAGTGGCCTAAACCCTTATGGGGTGCCCACTCCTGGTGGAGGGCAGGTGGATGAGTGGATTGTAATTTATAATAAAATATATGGCAGAAACACAGGCCTTAGGAGATTGCACAGGCCCCTCTATCAGTTCAAGTGACATGGGACAGCACCACGCAGGGACGGGCAACGCGTCTAGCAGGCCAGGCGTCTTCATGCACAAAGGCTAAACTTGTTGCTTTAACCTTTTCTGAACAAATTTTAAACATTCTGGCAAATGTCAAGTTTTGAAGTTTTTCCTGTGGGTTCTGGCCTCTTTCATATGCAAAAATAATTCTTTTTCTTCAAGTACATCCAGGGTAGAAAATGAAATCTGACTTTTCCTCGGTCCAGTGTGTTACTCTATAGACATGGACCAGCCACTCAGCAACTGCCTGACACCTAAGCTGCTGTCACTGCTGAGGGCACAACCCCTGGTACCAGACCCTGTGAGGCTGTCACCTCAGTAAGGGCACCTCTGCGGGCCCCGGGACAGCCTTCTCTAAGGGCTAGCTCACCTGCTTTCTAGATAAGGAATCTACTGGCTTAAATAAACATGTTCCACTAGACACCA)$ MAASRRLMKELEEIRKCGMKNFRNIQVDEANLLTWQGLIVP|lhhvsllclpgqeayhlwtgcwgl* 01BR020 ENSG00000277803.1(280392),ENSG00000254594.5(61528) ENSG00000127314.18 ./+ +/+ chr11:24173949 chr12:68648699 intergenic 5'UTR/splice-site translocation 4 6 1 16 86 high . . |Ras_family(100%) . . . ENSG00000127314.18 . ENST00000250559.14 downstream upstream . AGGAACCAAAGAGGCCAGAATCCTCCCTACTGCAAGTGGCGCAAACTCCCCAAGTCTCCACCTCGTCCTCCCAGTCTGCAG___GCTTGAAAGCTGGAATTCACCGGGGAACTTGGCTGTCTCCTGTCTCTATCAAAGCGACTTGGCAAATTGCTGAAAATGAAGCAG|GTACTAGGTTTTGACAAGCTTGCATCATGCGTGAGTATAAGCTAGTCGTTCTTGGCTCAGGAGGCGTTGGAAAGTCTGCTTTG___ACTGTACAATTTGTTCAAGGAATTTTTGTAGAAAAATACGATCCTACGATAGAAGATTCTTATAGAAAG___CAAGTTGAAGTAGATGCACAACAGTGTATGCTTGAAATCTTGGATACTGCAGGAACG___GAGCAATTTACAGCAATGAGGGATTTATACATGAAAAATGGACAAGGATTTGCATTAGTTTATTCCATCACAG(CACAGTCCACATTTAACGATTTACAAGACCTGAGAGAACAGATTCTTCGAGTTAAAGACACTGATGAT___GTTCCAATGATTCTTGTTGGTAATAAGTGTGACTTGGAAGATGAAAGAGTTGTAGGGAAGGAACAAGGTCAAAATCTAGCAAGACAATGGAACAACTGTGCATTCTTAGAATCTTCTGCAAAATCAAAAATAAATGTTAATGAG___ATCTTTTATGACCTAGTGCGGCAAATTAACAGAAAAACTCCAGTGCCTGGGAAGGCTCGCAAAAAGTCATCATGTCAGCTGCTTTAATATACTAAATGCATTGTAGCTCTGAGCCAG___GTCTGAAGAACTGTTGCCCAATTCAACAGTGCCAGCATTCCAACTTTGTTAAACCTACCAACATCTTAAATGGACTTTCCTGTGGTGGTACCCTTTAAGAGGCGGATGAAAGCTACTATATCAGTTTGCACATTCTAATCACTTTCCAGTATCACAAGAGAGATTTTTACTTATATAATAGTCCTAGAGTTTGCAGCTGGTAAAACCAGAGGCTACATCCAGTATTACTGCTAAGAGACATTCTTCATCCACCAATGTTGTACATGTATGAAAATGGTGTACTGTATACTTTAACATGCCCCATACTTTGTATTGGAGAGTACAATAATGTAAATCCTAAAAGCACCACTATTTTAGCATAATAAAAGAAAGTCCAAAGAGCTCCTATATAGACTACTCCAGATAACTTCGCTTCTTTGATACTTGTAGCTTATTGTAATTTTTTTTAAGAAATTCAAGGTCATTATTATTGTACAAAATAAGCGCTTTGATTAACACAGCTATATAGTTTTTTTAATTTTTAAAAAACCTGTGGAGACGGTGATCTTGTCTTTAAAACATGATAGTCCTTTCAGTATAATGTCTTAGATTAAAGACGTTGCCTTTAATATCTGTTGGGAAGGAAATGTCCAGACTTTTCAAATCTCTTATTATATGTTTCCTTTTTTTGTTTACATAGGGAACAATGTTTATAGTCGTGTGTACAGTGGGGGTCTACAACAAGAAGTGTATATTTTCAAACAATTTTTTAATGATTTAACAATTTTTGTAAATCATTTTCAGGCTTCTGCAGCTGTAGATTCTCACTGTGAATCCCTTGCTTGCTCATGCATAAGTGTATTTGCAATACCAAATATACAGGTTTAGTATTTTTGCCTGTTAGTGATTGTTTCACATGTGTAACGTTTTGGTTGAGATGTTAAATGGTGGACGAGTACTGTGGATGTGAATGTGGGAAGTAATTTTAATCATATGTAATTGGTCACAAGGCCTAATTTGCAGTAACTATTGCTGTTTTATTTAACAATGCCTTGTTGCTTTGTATGCATTAATGTTTGGATGTAAAGATTGTGTGTCTATCCAACAGGGAGCCACAGTATTTAAATTGACCAACCTAATGTTACAACTACTTTGAGGTGGCCAAATGTAAACTAAAAGCCTTAATTAAAGTGGTGCAATTTTGTATAACTTAGCATCAGTAGTTCAATAAATTTGGATTGCCATGCAAGGGCTTGCATTATAATTACTTGCCACTTGAATGTGTTTTGTGTAATGTTTTAACAGTGCTAGTAAATAAATACGGGTTTACCCTGGTTTTAATTGTAATAGGTGCATTTTACACAGCATGGTTTCATAATTTAACATCTGGGCAAGCCAGACTCATTAATTACAGGAATAAGGAAGTAGCGAGTTTTCTGGTATTGTTTGAATATCCACATAACCACCTTTTGAACTTTTCCTTGAGAAATAATTTTGTAAATCAAGCAGTATTACTTACGAATAAATGCCTTTGGGTAATGTTCAGTAGCTATTTGATGAGGTAGGTAAAAGAGGAACGATTTAACATACTTTCATGGATGTTACACTATGGATTTTTTAAAATACAGGATTGAAGTTAGAATATTGTGGTTATAAAAATCTTTGAGTGATGTGGATTAAGCACTTAGAGAATCGATATTTTTCTTAAATATGCTATAATTGAATTCTGTAAGAACTGAATTCTTATAGAATTATTTTAAAACTTTTTAAAAATTGTAAAGCTCTTAAAAAACTTTTTGAAAGTATTTGCCAGCTACTGGAGCAATTAATCAGTGATAATATCTAATAGAGGGGTATCTGCTAATCCCCTAAATACACGCTGTTTGAATGATACATTTTTAAAGGCTTTCATGTTAAGAAAAAGTCTGATTCTTTACAAAAGGGACTTGTTTTGGCAGAACTGGTTTTATTTATAATCATTTGGGAAAAAAATTAAGCCCAAAAAACTGGGACTGTGAAACACTAAAATTACTTCAATTTACTATGTCCTGTTACATCCATTGATACCGCCATTATTCAATAATTACTTTTAATAAATGTTTGCTGCCTACCAGCTATGTACCAGGCCCAGTTCTAGGCTCAAACAGCTAAATATTCATTCATTGGACAAATTAAGTACTTAAGTATAAAAATTGTTCTAGGCCTAAGGATGTAGCAGCAACCAAGATCAACTATAAAATGCTGCCCTCCTAGAATTTATATTCTATTGAAGAGTTTCTCAGCCTCAGCACTATTGATGTTTTATGTTTGATAATGTATTCTGGCGACTCTCCTGTGCATTATAGGAATTTTAATATCTGCCCACTAGATGCCAGTCACACCACCCCAGCCCCCAAGTTGTGGCAACCAAAAATGTTTCCAGACATTGCCAGATGTTCCCCAGTTGGATTGTTGGGGGACAAGGGAGGTGAACTTGGAGGGCAAAATCACCCTGGTGAAGAACTACTGCTCTGGTGGGAAACAACACATTAGTTACAGATGAGTGTTAGGGTTACAAGATGGATGGTTTACTATATAGTGAATAAGAATATAAAGTTTGGAGCCAGACTTCCTGGGTTTTTAATCCCAGCTCTTCCAGTTCCTACTATATGCCTTTGGTTGGGTGCCTTGGTTTCCTCATCTGTAAAATGAGAATGATAATACCTACTTCATAGGAGAGTGAAATGAATGCCAGTGCTATCCTCTAGGTCTATATATATATATATATATATATATTATATATAGTACATATATAGAGAGAGTATATATATATATGTAGTACAGTGGAGGTCTATATAATACTATATATATAATTTATTTTTTTCAATGCTGATAGGAATAAGGCTGTGGTTTGGCAAAAAGCACCATTTTCTCCTATACAAAATAGTAACTGCAGTTTGGGAGCACAACTCATGTAGATTGACTTTTCTGGTGCTTAATGGGAAAATACTAAAATAATTGAGTCAGAAAAGGCATGAATTCCTTTTCACGTCCCCAAGGATACTTGAAGAAACTTGAGTTTTAGGAGAAAATCAGAGTGGTCTTTCACTTACATTTTTCTAAAAAGTGTAAAAACCCTGTATTGACTTTCTTGTTGATTCAGTTGTTTCTTAAACGTAAATAGCTCATCTTTACCATATGTGGGCATTACAAATAGAAATTTTTAAAATTCCATTTATAAAATGAAGTTTTGCCGTTTTTTTTTTTAAATCATTCCGTCTTTAGTTGTGGGACAGCAAACTTAGAATCGAAACTCATCACTACAACTTTTCTTTGAGTTAAACTCTTATCTGTGTTTTCATTGAATTTAATCTCCATCTATTCTATCTCTTCTTAAATCTTGGAAATGTAAAAGGGAGTTATAGTGTTTTACAATTAATACTCTTACTATTACCTTAGAAGCCTTAAAAGTGCTTGCAGGCTTGTCTCATAATCTGTCAGTGAGCCTTAACATTGTGATTTGTAAGACTAAAATTTTTTTTTCAAACAAAACAAATCTGACAGCCTGGGCAACATAGACCCCATCTCTACAAAAAAAAATTTTTTTTTAATTAGCTGGGCATGGTGGTGCACGTCTGTACCTGTAGTCCCAGCTATTCAGAAGGATTGCTTGATCCCAGGAGATCAAGGATACAGTGAACTGTGTTCGCGCCACTGCACCCCCACGATGGCAATAGAGTGAGACCCTGTCTTAGAAAAAAAAGATAAATAAGTCTGTTCTATTTGTTACAGTGCATCAACACATTTGAATTTTCTTTTTTTTTCTTTTTCTTTTTTTTTTTTGAGACTGAGTTTCGCTCTTGTTGCCCAGGCTGGCGTACAGTGGTGCGATCTTGGCTCACCCCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAATAGCTGGGATTACAAGCATGCACCACCACGCCTGGCTAATTTTGTATTTTTTGGTAGAGATGAGGTTTCTCCATGTTGGTTAGGCTGGTTTCGAACTCCCGACCCAGGTGATCCGCCTGCGTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCTAATCAATACATTTGATATTTCAAGAATACATGAGAGAAGAGAGGTAGATTGAGAACAGAACTAAACTTTATATATGTTTCCTTAACTATTGGGAGGAAAATGGATGAGTCTGTGTTGGGATACCTGTTGAAACAAGACTACTAAACAGATTAATCAACTAATTCCATAGGCTTGACATTAGTTTATCTTTGAAAAGTAAAAGTAAAGTGCTTATTGCTAAATAGGTCTGTATTCTAAATGCTGCCATTTTTTAAAAAAAGTATTCCATGTTACACACATTTTAAACTTGCTTCTTAAAACATCCCTGTTGGTGGCCTGTAGGTTACTGACCTTAGGAATTACAGGCTTTATCCAAAATTAGGCATATCTACCTGATTTTTGTATCTGAGAATCAATAAATGCATTCAGTATTCTCTACCGTGTTTCAGGCGCTGTTTACAATATCGGAGGTACAGCAGGGATTTTCTGCCCACGTGGGGAAAACACACAGCAAATGAACAAAGCTCTATTGGTAACAGTCTGTTAAACTTTCTAAGAGCTTTCCAACTTTCTAAGAGAAAATTGTAATGATTTTAGAAAAGTGAGCTGTCATTTTTCATATATATAAATTTTTTTATTCATAGGTAATCTAATTTTTCTCATTTCTCCAAAAGGGTACGAAGACAGTTTTTACTATGTTGTTTTACTATGAACCTAGTTTAACCTGACTTTCCTTACAGACCCACATAAATGAGACAATCCAAATTTAGTATTTGGGTCAAAATGCAGGGTTTTTTCCTGAAAACAAAACAGCACACACATATATTACAGGATTTTTATGTAATAATATATTCACTTCAGTCAGGTTTCAGTTTTTAAATAGGCAGAGATCAAAAGCCTCTAATGTTTTTGTCATCCGCCATTATTACCCATTCAAATTTCTATTTATGTCTGGTAGTTATGTCCCCTGTGAGCACTAATTTCAGAACAGGAAATTCTATTAACTGTCAAACTCTTTAATGTGCAGTGCAGTAGGTTTGGAGCAGAGGGGAGTAGGAAGGAGTAAATGATATAATCCAGTCTGGCCTGGCATGGTGGCTCACACTTGTAATCCCAATGCTTTGGGAGGCCGAGATGGGTGGATCACTGGAAGCCAGGAGTTTGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATAACAAAAATTAGACGGGCACGGTGGTGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCCGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTTCAGCATGGGCAACAGAGTGAGACTGCAAAAAAAAGAAAAAGAAAAAAAAATCCAGTCTCTGCTGGCAAGGTGTTTAACAAGTCAATGATGGGAAAGACCAGTCAAATAAACTATCAGATCTAATAACTTTTCTAACCATAGGTGATTCTTCTTCCATTATCCATACTAAAGCAAGTGACTCATAATAAAAATTGTTATTTTGTAAAATATATGGACTGTTTGCTTTATATTCCCAACTATTACATCTGGTTGACTATTAACAGGTCAATGTCAGATTTCCTGAGCAAATCAACCAATAATGAAAAACTATGTGGCTGGCAGAAAAAAATAAGTGCGTGTGGTGGTGCTTGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGTAGGAGGAACTCTTGAGCTCCGGTGGTTTGAGGCCAGCATGGATAACATAGGGAGACCCTGTCACTTGACAAAAGTATCTTTCCCTACTGGAAATGGAATAGAATCGGATGGGTATGGTACAGCAGGTAGTTATGGGGAGACCTCTACTGTTCTAAATGAGACTAATAGTAAATGTTACATAACTAAAGCAACAGATTTGCCAGCTGTGTGAAAGATAACCCAGAGAGGGGTAATGGTAGAGCCAGAATTAACACAGCCAGCTTGTCAGCTACCTTTGAACATGTATTTTCTGTGCAGTCAGATTTGAAGGGTTGGACCTTGGAGTTACTGACATTGGAGGCAACTGAAACCATGAGTGTGAATGAAATTATTTTCGTAAGAATTACTTGGGGTTAAAAATAGTAATAAAAAGGAAAGCCTGGCCTAAACAGTCTTGGGATGGGGAGAAGGGTTGGAGTACAAAGGATTGCTATTACAAAGACATGGGCAGAGAACAAGGCAAATAGCTGAGCAGCAATTGAGAATACAGCATCTTTTATGGCAAAGAGCAAAATACTATTGTTCCTCTTCTAGTATGCTATAGACCAGCAGTAATTTTGTGCTCTAAAATGCTTATTTTTATCTCTCTGTATATACTTGGTGGTGAATTTGCTACAAATGTAAGGAGATGATGGGATAGTTTTTGGAAATACCATCCTCTAATTAGTACCAGGTCTATGTATATCTGCAGCAACTATAAAGTCTGTTTCAGAGTCAGTATTGGCAAACTTATATTTAAATTCAGCTGTAACAAGACATCTTTTTTTTTTTTTTTGAGAGAGTCTGGCTCTGTCACCCAGGCTGGTGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGCATCTGCCACCAAGCCCTGCTAATTTTTCTATTTTTAGTAGAGACGGGGTTTCGCCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCTGCTTCAGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACTGCGCCCGGCAAGTTGTCTTTCAAATATATGCCTTTGCAGTATTTCTCTACTTCCCCAGTAATGTAAACTTTATTTTCTCTCAATTTTCGTAAGTGGTATTTTGGTGCTTTACCCAAAATATTAGGGAGAAAATTCTTCTTTTTAATTGGATTCTCGTATGTTGATCTATTTCTATTGTTTTCTAAAAAAAAGTTAGTGTCCTAGTTTAAAAGTATATATTAGTTTCCTAGGGCTGCTGTAACAAATTATCACAAATTTGGTGGCTTAAAGCAACAGAAATGTACTCTTTCACAGTTCTGAAGGTCGAAGTCCAAAATCAAAGTGTTAGGATGTACTCCTAGAGGCTCTCGGAGAGAACCTGTTCCCATGGCATTATGCCACATCACATGTGCCTCTATCTTTGTATCTCCTCCTCTCTATAATCTTTCTTTTAAAAGGACAATTGTTTTGACATTTAGGGCTTACCCACATACTTCAGGATAATCTCATCTCAAAATGCTTAATCACATCTGCAAAGACACTTTTTTCAAATAAAGTTAACAGACAGAAGTTTGGGGGTTGGGATGTGGACATGCCTTTGGGAGCCATTAACAACCTACCAAAACATTTTAACAATTTTTCAGTACCAAAGACTAGTATGGGTCTGCTCCAAGATAACTCAAAACATTCTGAACTGAATCAGCAGACCCTCAGGTCTCCCTAGAGAGATCCTGAGCACCTAGGAAAGCCCCAGAATTAAGCTACTCTACAAGGATTCTGAGGGAAGTCTGGGATTAGGTGAGACTTTAATGAGTCCATCAGAGGTTTAGTATGGACTAGTTCTACAGTTCCAGAAGCAACATACTGGGTATGGAATATTGTTAACCATTGTCATCCCACAGAATTACCTTCTACTTGTGTCAGTATATATCCTGCCTACCCTACATATTTTATATTTATCAATGATGACAGAAACTTCCCCCCTTTTACTTAGATCTAATAGTAATATAACAAACTTTTCTTTTTCATTTTCAGACATATCCAGAGGGTTTTCTCTTCATCTCACGCATCCCACCTTTAATCAGACATATGTGATTCATATGAGAGAAAATTAGTGTTTCTGAGACCAAATGGTGGTGTTTATAAGATTTTGCTTCTGCACTGAATTCAATGTTTTATTTACTGCTTGGTTATTTTGTTTTTGTTTTTTAAGAAATGGGAGGAGTGTAATATCTAGAGGTACATGAAAAAAAGAAATGGAAGGAATGGACAGGCCCAGAATTAAATGATAAAAACTCATCTGGTTGGAATGAAGTACACTGAACATTTGAGGAAGTTAGAGATTAATTCAACCCAGTGGGTTTTGGGGTTTTTATATGTGTTAGTACATTCAGCGTTAGGGTTGGGTTTCTTGTCTCTGTAATCACTTCTCAAAAATGAATTTGGGCTTCTCCAGATAGCCTTTTTATCCATTTATTATTTCAAGTAATGGTATAAGGAAATTGTAACCATTTGTGTGCTTTACATGTTTAAGATACAAACTTACAGTTCCCAGAAGTCAATTCAGTCATTCTCTATAAGAGCTGTTGTGGAAAAAGTTCTCACTTCACTTACTCATTCCTTTGCATTTTCCAACTTTAGTAAAGCATGACTTCATGCCTTGGATCATACAGGATTTCAACGGGAGATTTATAAGTCTATTTTGTTAGAATAAAAAGCAATAATACTTCCTGAAATACATCTTGGGCTCTTTGCAGAAGCTGAACTATCTGGTAATTACTATTTAGCAAACAGCTAACAGCTAGCTCTTAATTTTTCAGAAATAAGAGGACATCATTGGCCACTATCATACCACTAATTTTATTCCACCAATGCTTTCACAGAGGATGTCACCAAAGAAAGAAGTGGCATCCACTACCCCTCCCCCATCCTTCCACTCTGAACCAGTACAGGATATTCTCATGGTCAGGGCATTCTCTCCTTGGCAGGATGTAGTTAATGACATATGCAGAATTAATGACTTGGTTGCCCTAGGCCCCCCGTCAAGGCTTTTGTTCAAGGGAGAGTAAAGAGGATAGGTCTCAGTATGTCATCCAAACAGGATGGATACAGAATGCCAACCAGGTTAGCCCTGGCAAGTTAAGACATTTTACAGTGCCACTACCTACCTCCATACTGTATCAGAGGAGCCAGTTGCACAGTGTTGATCTCCCTAAGACTATTATAATAAGGAAGGGGTTTTTTTCTTAGCCCAGTTACTACTAAAACTCACTCAGAGGAGCAAGTGAAATTTGTCACAATTGGCTCGACTGCTTTATCTCACTTTGAAAAAGAAAAGTTACAAATTCTAGTAAGCAAAAGATTTTTTGTGACCAGGTCTCCCTGACCTGCACAAAATAAACTCTTCATGAGTTAAACCAAAACAGATTTAATGTCTAAACTTAAATCTAGTTTGACATTAACTTCTTTTCCAAAGAGAAATAACGTTAACAATCTGAAATCATCCCTGCACAGACTTTCTTGGCTCTTCTTTTCTGCCGTCCTATGAATCACAAATAGAAGTTTAAGAAAGCTGTCAGGTAGGCGCCTCAAATTCATTTAAAATGAGGAATGATGAAAGAATAAGAAAAACCAGCAAATGATAGCTTACTTATTCAGTTATTTGGCTTGATACTGCTTGAAAGTGACATTTCTAGATTAAAGATCTGATAAGCTCTGATAGTTGGGAAATAATACTAGTTATTTCTTGGACACCCTAAGATGTGCCACCATTGCTCTAAGCACTTTACATGTGTTGTTCAACCCTCAGCAATGCTATGAAATAGGGGCTGAGTCTCCTAATAGAGCTAATGAATGCATTATATCAAAAGAATGAAATGTTAAATATAGACACTGGAAAATAAAATTACTTTTGCTTGTATTATAAGTGAATACCTTGAAAGCTCAAAAAAATCTATTAGAAGTATTCAGGAACTTGGCTGGATATAAGATAAGCATGCCAAAAATCAATAGCTTTTCTTTATATTTATAAAAAATACCTACAAGTTGATATAGTAAACACGACAGATAAAAACTAAATGCCTTAAGGTATAAGGCTAAGAAAGAACTATTATAAACTCTTATTGAAGGACATAAATCAAGATCTGAACAAATACACTGGGAAGATAATATCATAAAAATATCAATTCCCCCAAATTAGCATGTTAATGTATAATGATTACAATTTAAATTTCAACTGGCTGAGGCTTTGTTTTTGTTTTTGATTTTTTAATAGACTGGATGTTGGTCTTGAACTCCTGGGCTCAAGCAAGTGTCACACCTTGGCCTCCCAAAGTGGATTATAGGCATGAGCCACCGTGCCAGACTTGGGTGAGGTTTTGAAATTGAAATTAAGCAAAATGGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCGGAGGCCGAGGGGGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGGTGCAGTAGCTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAATCTCTATCTCAAGAAAAAGAAAAAAGAAAAGAAATTAAGCAAAATGATCTTAAAGTTCAAGTGAAAGAGTAGAGTAGAACTGAGTCCAGAACTAGATTCCAGTATATGACGTTTATACGTGACAAAAATATATTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGTTTCCCTCTTGTTGCCCAGACTGGAGTATAATGGCACGATCTTGGTTCACCACAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGGCTAATTTTGTATTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTTGCGAACTCCCAACCTCAGGTCATCTGCCCGCCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCGACAAAAATATATTTCAATAGAAAATAGTATCAGTAAAATGCTAGCACAACTAACTATCTGTCTAAAGACAATAAAAGTTCAACCCCTATATCATGCAAAAAGCACTTTCCAGATATATTAAAATGTTTTCAAGCTATAAAGTAAAACAGTAGAAGTCTTAGAAGAAAATCTAAGAGACTAGAAATCTAGAGATAGGGTAGACCTTCTTAGCTAATTTTTAAAAATGAAGCTATATTTAAGATATATATTTCAAGTAAATAATAAGTGTGTGTGTGTGTACACACAGATGCTTCTCAGCTTACAATGGGGTTATGTCCCAATAAGCCCATCAGAAGTCAAAAATGTAAGTCGAAAATGCATTTAATACCCTGATAAATCCATCACAAAGCTGAAAAATTATAAGTAAAACTGTAAGTCACAGACTGTATATATAAATTTAAAATTTGGCAAAATATATTGCAAAGTCAAATTTGGGAAAGTATAGCACAGATAAAAGATTAAACTATTCACGGCCAGGCACGGTGGATCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACGTGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTAGGAGGCGAAAGTTGCAGTGAGCCAAGATGGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGATACTCCGTTTAAAAAAAAAAAAAAAAAAAAAGGTAAACTATTCAAAAGATAAATGGTTGAAAGATATATAACTAGGCAGTTTAGATAAGAACAAATCCAAATGGCCCATCAACATAAAAAGATGCTCTAACTGTAGCCAGAGAAATACGAATCAAAGTACCAACGAGCCCAACACATGGACGAAAACTTCAGAGAACACTACAGTCCCAGAAGAGAGGTAAAGGGCAAGAAATGAATCATTTATTGCTGATGGAAATGTGCATTGTAGAGCTGATATCTGTTCAAATTAAATATGCATATTTGACCTCAATTCTACTACTGATATCTACACCAAGGAAATGAAAGGAAATGCACAAGATTATTTATTGCCACACTCTAGAAGGAAAAACAGAGTGCATGCCCATCAATAGAATAGTTGAATAAATTATGATTCATGCATAATATAGAACATTATGCATTCATTTAAAAATGAGTTTGATGTTTAAAGGTTGACTTAGAAGGATTCCCGTGCAAAGTGAACAAAACAGAATACCGAGAAGGATGTATGTGAGGGATGCATGTGGGCACCTGGGAAAGGAGATGAAGAAAGCAACTGAAGGATATTTACCAAGTTGTTAATATGCATTACCTGACATGGTGATATAGGAGTAGGGGTGAGGAAGTGAAGGATCTGAGTAGGTGGAAAAAGAAAAGCAAAAGTACAACAGCGGGAGAAAAAACAGGATGACTCGTCTAGAAGAGACATTGTCAGTAACAAGTAAATAACATTTTCTGGAATATAAAAAAAAAAGCTATATGAATGTCATCATTATATGTAAAATATGAATGTAAAATACATGGGAGGATAATATGCATTAATAAAAATTATGGTGCTGGCAACAGTA)$ . 01BR020 ENSG00000144554.10 ENSG00000168137.18(2481),ENSG00000156959.9(17726) +/+ ./- chr3:10098815 chr3:9480635 CDS/splice-site intergenic inversion 7 4 0 169 24 high out-of-frame . . . . ENSG00000144554.10 . ENST00000383807.5 . downstream downstream . ^(GGCCTGGCGGGAAAGTCGAAAACTACGGGCGGCGACGGCTTCTCG___GAAGTAATTTAAGTGCACAAGACATTGGTCAAAATGGTTTCCAAAAGAAGACTGTCAAAATCTGAGGATAAAGAGAGCCTGACAGAAGATGCCTCCA___AAACCAGGAAGCAACCACTTTCCAAAAAGACAAAGAAATCTCATATTGCTAATGAAGTTGAAGAAAATGACAGCATCTTTGTAAAGCTTCTTAAGATATCAGGAATTATTCTTAAAACGGGAGAGAGTCAGAATCAACTAG___CTGTGGATCAAATAGCTTTCCAAAAGAAGCTCTTTCAGACCCTGAGGAGACACCCTTCCTATCCCAAA___ATAATAGAAGAATTTGTTAGTGGCCTGGAGTCTTACATTGAGGATGAAGACAGTTTCAGGAACTGCCTTTTGTCTTGTGAGCGTCTGCAGGATGAGGAAGCCAG___TATGGGTGCATCTTATTCTAAGAGTCTCATCAAACTGCTTCTGGGGATTGACATACTGCAG___CCTGCCATTATCAAAACCTTATTTGAGAAGTTGCCAGAATATTTTTTTGAAAA___CAAGAACAGTGATGAAATCAACATACCTCGACTCATTGTCAGTCAACTAAAATGGCTTGACAGAGTTGTGGATGGCAAG___GACCTCACCACCAAGATCATGCAGCTGATCAGTATTGCTCCAGAGAACCTGCAGCATGACATCATCACCAGCCTACCTGAGATCCTAGGGGATTCCCAGCACGCTGATGTGGGGAAAGAACTCAG___TGACCTACTGATAGAGAATACTTCACTCACTGTCCCAATCCTGGATGTCCTTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAG___GTTCGCCAGTTGGTGATGGATAAGTTGTCGTCTATTAGATTGGAGGATTTACCTGTGATAATAAAGTTCATTCTTCATTCCGTAACAGCCATGGATACACTTGAG___GTAATTTCTGAGCTTCGGGAGAAGTTGGATCTGCAGCATTGTGTTTTGCCATCACGGTTACAGGCTTCCCAAGTAAAGTTGAAAAGTAAAGGACGAGCAAG___TTCCTCAGGAAATCAAGAAAGCAGCGGTCAGAGCTGTATTATTCTCCTCTTTGATGTAATAAAGTCAGCTATTAGATATGAGAAAACCATTTCAGAAGCCTGGATTAAG___GCAATTGAAAACACTGCCTCAGTATCTGAACACAAG___GTGTTTGACCTGGTGATGCTTTTCATCATCTATAGCACCAATACTCAGACAAAGAAGTACATTGACAGGGTGCTAAGAAATAAGATTCGATCAGGCTGCATTCAAGAACAGCTGCTCCAGAGTACATTCTCTGTTCATTACTTA___GTTCTTAAGGATATGTGTTCATCCATTCTGTCGCTGGCTCAGAGTTTGCTTCACTCTCTAGACCAGAGTATAATTTCATTTGGCAGTCTCCTATACAAATATGCATTTAAGTTTTTTGACACGTACTGCCAGCAG___GAAGTGGTTGGTGCCTTAGTGACCCATATCTGCAGTGGGAATGAAGCTGAAGTTGATACTGCCTTAGATGTCCTTCTAGAGTTGGTAGTGTTAAACCCATCTGCTATGATGATGAATGCTGTCTTTGTAAAG___GGCATTTTAGATTATCTGGATAACATATCCCCTCAGCAAATACGAAAACTCTTCTATGTTCTCAGCACACTGGCATTTAGCAAACAGAATGAAGCCAGCAGCCACATCCAG___GATGACATGCACTTGGTGATAAGAAAGCAGCTCTCTAGCACCGTATTCAAGTACAAGCTCATTGGGATTATTGGTGCTGTGACCATGGCTGGCATCATGGCGGCAGACAG___AAGTGAATCACCTAGTTTGACCCAAGAGAGAGCCAACCTGAGCGATGAGCAGTGCACACAG___GTGACCTCCTTGTTGCAGTTGGTTCATTCCTGCAGTGAGCAGTCTCCTCAGGCCTCTGCACTTTACTATGATGAATTTGCCAACCTGATCCAACATGAAAAGCTGGATCCAAAAGCCCTG___GAATGGGTTGGGCATACCATCTGTAATGATTTCCAGGATGCCTTCGTAGTGGACTCCTGTGTTGTTCCGGAAGG___TGACTTTCCATTTCCTGTGAAAGCACTGTACGGACTGGAAGAATACGACACTCAGGATGGGATTGCCATAAACCTCCTGCCGCTGCTGTTTTCTCAGGACTTTGCAAAAGATGGGGGTCCGGTGACCTCACAGGAATCAGGCCAAAA___ATTGGTGTCTCCGCTGTGCCTGGCTCCGTATTTCCGGTTACTGAGACTTTGTGTGGAGAGACAGCATAACGGAAACTTGGAGGAGATTGATGGTCTACTAG___ATTGTCCTATATTCCTAACTGACCTGGAGCCTGGAGAGAAGTTGGAGTCCATGTCTGCTAAAGAGCGTTCATTCATGTGTTCTCTCATATTTCTTACTCTCAACTGGTTCCGAGAG___ATTGTAAATGCCTTCTGCCAGGAAACATCACCTGAGATGAAGGGGAAGGTGCTCACTCGGTTAAAGCACATTGTAGAATTGCAAATAATCCTGGAAAAGTACTTGGCAG___TCACCCCAGACTATGTCCCTCCTCTTGGAAACTTTGATGTGGAAACTTTAGATATAACACCTCATACTGTTACTGCTATTTCAGCAAAAATCAGAAAGAAAGGAAAAATAG___AAAGGAAACAAAAAACAGATGGCAGCAAGACATCCTCCTCTGACACACTTTCAGAAGAGAAAAATTCAGAATGTGACCCTACGCCATCTCATAGAGGCCAGCTAAACAAG___GAGTTCACAGGGAAGGAAGAAAAGACATCATTGTTACTACATAATTCCCATGCTTTTTTCCGAGAGCTGGACATTGAGGTCTTCTCTATTCTACATTGTGGACTTGTGACGAAGTTCATCTTAGATACTGAAATGCACACTGAA___GCTACAGAAGTTGTGCAACTTGGGCCCCCTGAGCTGCTTTTCTTGCTGGAAGATCTCTCCCAGAAGCTGGAGAGTATGCTGACACCTCCTATTGCCAGGAGAGTCCCCTTTCTCAAG___AACAAAGGAAGCCGGAATATTGGATTCTCACATCTCCAACAGAGATCTGCCCAAGAAATTGTTCATTGTGTTTTTCAACTGCTGACCCCAATGTGTAACCACCTGGAGAACATTCACAACTATTTTCAG___TGTTTAGCTGCTGAGAATCACGGTGTAGTTGATGGACCAGGAGTGAAAGTTCAGGAGTACCACATAATGTCTTCCTGCTATCAGAGGCTGCTGCAGATTTTTCATGGGCTTTTTGCTTG___GAGTGGATTTTCTCAACCTGAAAATCAGAATTTACTGTATTCAGCCCTCCATGTCCTTAGTAGCCGACTGAAACAGGGAGAACACAGCCAGCCTTTGGAGGAACTACTCAG___CCAGAGCGTCCATTACTTGCAGAATTTCCATCAAAGCATTCCCAGTTTCCAGTGTGCTCTTTATCTCATCAGACTTTTGATGGTTATTTTGGAGAAATCAACAGCTTCTGCTCAGAACAAAGAAAAAATTG___CTTCCCTTGCCAGACAATTCCTCTGTCGGGTGTGGCCAAGTGGGGATAAAGAGAAGAGCAACATCTCTAATGACCAGCTCCATGCTCTGCTCTG___TATCTACCTGGAGCACACAGAGAGCATTCTGAAGGCCATAGAGGAGATTGCTGGTGTTGGTGTCCCAGAACTGATCAACTCTCCTAAAGATGCATCTTCCTCCACATTCCCTACACTGACCAG___GCATACTTTTGTTGTTTTCTTCCGTGTGATGATGGCTGAACTAGAGAAGACGGTGAAAAAAATTGAGCCTGGCACAGCAGCAGACTCGCAGCAG___ATTCATGAAGAGAAACTCCTCTACTGGAACATGGCTGTTCGAGACTTCAGTATCCTCATCAACTTGATAAAG___GTATTTGATAGTCATCCTGTTCTGCATGTATGTTTGAAG___TATGGGCGTCTCTTTGTGGAAGCATTTCTGAAGCAATGTATGCCGCTCCTAGACTTCAGTTTTAGAAAACACCGG___GAAGATGTTCTGAGCTTACTGGAAACCTTCCAGTTGGACACAAGGCTGCTTCATCACCTGTGTGGGCATTCCAAG___ATTCACCAGGACACG)AGACTCACCCAACATGTGCCTCTGCTCAAAAAGACCCTGGAACTTTTAGTTTGCAGAGTCAAAGCTATGCTCACTCTCAACAATTGTAGAGAGGCTTTCTGGCTGGGCAATCTAAAAAACCGGGACTTGCAG___GGTGAAGAGATTAAGTCCCAAAATTCCCAGGAGAGCACAGCAGATGAGAGTGAGGATGACATGTCATCCCAGGCCTCCAAGAGCAAAGCCACTGAG|TGTGGCCCCGGGAAGCCAAGAAGATTGGACACCTCTGATTTACACCATATCAAAAGCAAAGTCCCTAGCAACACAGTAAGTACTTGAAAAGAATAGCAAATAGGTTAACTCTGAATGGGCAGTTGACTGTCTTACCTTGATATTCTCAGCACCTCAGATATAGCCTAGCACACAGTAGGTGTTCAGCCAATGGTCATGGAACAGAACCTTCCAATTATGG MVSKRRLSKSEDKESLTEDASKTRKQPLSKKTKKSHIANEVEENDSIFVKLLKISGIILKTGESQNQLAVDQIAFQKKLFQTLRRHPSYPKIIEEFVSGLESYIEDEDSFRNCLLSCERLQDEEASMGASYSKSLIKLLLGIDILQPAIIKTLFEKLPEYFFENKNSDEINIPRLIVSQLKWLDRVVDGKDLTTKIMQLISIAPENLQHDIITSLPEILGDSQHADVGKELSDLLIENTSLTVPILDVLSSLRLDPNFLLKVRQLVMDKLSSIRLEDLPVIIKFILHSVTAMDTLEVISELREKLDLQHCVLPSRLQASQVKLKSKGRASSSGNQESSGQSCIILLFDVIKSAIRYEKTISEAWIKAIENTASVSEHKVFDLVMLFIIYSTNTQTKKYIDRVLRNKIRSGCIQEQLLQSTFSVHYLVLKDMCSSILSLAQSLLHSLDQSIISFGSLLYKYAFKFFDTYCQQEVVGALVTHICSGNEAEVDTALDVLLELVVLNPSAMMMNAVFVKGILDYLDNISPQQIRKLFYVLSTLAFSKQNEASSHIQDDMHLVIRKQLSSTVFKYKLIGIIGAVTMAGIMAADRSESPSLTQERANLSDEQCTQVTSLLQLVHSCSEQSPQASALYYDEFANLIQHEKLDPKALEWVGHTICNDFQDAFVVDSCVVPEGDFPFPVKALYGLEEYDTQDGIAINLLPLLFSQDFAKDGGPVTSQESGQKLVSPLCLAPYFRLLRLCVERQHNGNLEEIDGLLDCPIFLTDLEPGEKLESMSAKERSFMCSLIFLTLNWFREIVNAFCQETSPEMKGKVLTRLKHIVELQIILEKYLAVTPDYVPPLGNFDVETLDITPHTVTAISAKIRKKGKIERKQKTDGSKTSSSDTLSEEKNSECDPTPSHRGQLNKEFTGKEEKTSLLLHNSHAFFRELDIEVFSILHCGLVTKFILDTEMHTEATEVVQLGPPELLFLLEDLSQKLESMLTPPIARRVPFLKNKGSRNIGFSHLQQRSAQEIVHCVFQLLTPMCNHLENIHNYFQCLAAENHGVVDGPGVKVQEYHIMSSCYQRLLQIFHGLFAWSGFSQPENQNLLYSALHVLSSRLKQGEHSQPLEELLSQSVHYLQNFHQSIPSFQCALYLIRLLMVILEKSTASAQNKEKIASLARQFLCRVWPSGDKEKSNISNDQLHALLCIYLEHTESILKAIEEIAGVGVPELINSPKDASSSTFPTLTRHTFVVFFRVMMAELEKTVKKIEPGTAADSQQIHEEKLLYWNMAVRDFSILINLIKVFDSHPVLHVCLKYGRLFVEAFLKQCMPLLDFSFRKHREDVLSLLETFQLDTRLLHHLCGHSKIHQDTRLTQHVPLLKKTLELLVCRVKAMLTLNNCREAFWLGNLKNRDLQGEEIKSQNSQESTADESEDDMSSQASKSKATE|cgpgkprrldtsdlhhikskvpsntvst* 01BR020 ENSG00000272897.5 ENSG00000088340.17 -/- -/- chr20:35672755 chr20:35604621 CDS/splice-site exon/splice-site deletion/read-through 6 5 0 54 49 high . . . . . ENSG00000272897.5 ENSG00000088340.17 ENST00000541176.2 ENST00000615531.4 upstream downstream . ^(TGATGAATGGGGACCCTAAGCACCATTATCCCG___GCTGTATCAACCTCTCCTTTGCATAT)GTGGAAGGGGAAAGTCTGCTGATGGCACTGAAGGACGTTGCCTTATCCTCAGGGAG___TGCCTGCACCTCTGCATCCCTGGAGCCCTCTTATGTGCTTAGcGCAATTGGCACTGATGAGGATTTAGCGCACTCTTCTATCAG___GTTTGGAATTGGCCGCTTCACTACAGAGGAGGAAGTGGACTACACAGTGGAGAAATGCATTCAGCATGTGAAGCGTCTTCGAGAAATGAG|ATCCAGGTGGAGCTTGACCTGAAGTACCAGCCCCCAGAGGGCGCTACTGGAGCCTGGTCAGAGGAGGACTTTGGGGCACCCATCCAGGACAG___CTTCGAGTTAATCATCCCC(AATGTGGGCTTCCAGGAACTGGA___GCCTGGGGAGGCCCAGCTGGAGCGGCGGGCAGTGGCTCTAGGCCGCAGGCTAGCTCGAAGTCTAGGCCAGCAGGACGATGAAGAGAATGAGCTGGAGCTTGAGCTGGAGCAGGACCTGGATGATGAGCCTGACGTGGAACTTTCTGGTGTTATGTTCAGCCCCCTCAAGAG___CCGCGCCAGGGCCCTGGCCCATGGGGATCCCTTCCAGGTGTCCAGAGCTCAAGACTTCCAG___GTGGGAGTCACTGTGCTGGAAGCCCAGAAACTGGTGGGAGTCAACATTAACCCCTATGTGGCCGTGCAAGTGGGGGGGCAGCGCCGTGTGACCGCCACACAGCGTGGGACCAGTTGCCCCTTCTACAATGAG___TACTTCTTGTTCGAATTTCATGACACGCGGCTTCGTCTCCAAGACTTGCTGCTGGAGATCACG___GCTTTCCATTCGCAGACCCTCCCCTTTATGGCCACCCGGATAGGCACCTTCAGGATGGACCTGGGCATCATCTTGGACCAGCCAG___ATGGCCAGTTCTACCAAAGATGGGTTCCGCTGCATGATCCCCGAGACACCCGCGCCGGGACCAAGGGTTTCATTAAGGTCACCTTGTCCGTGAGGGCGCGCGGGGACCTGCCCCCTCCAATGCTACCCCCGGCCCCAGGGCACTGTTCGGACATCGAGAA___GAACCTGCTCCTGCCGCGCGGGGTGCCCGCCGAGAGGCCATGGGCGCGGCTCCGCGTGCGCCTGTACCGCGCCGAGGGGCTTCCCGCGCTGCGCCTGGGGCTGCTGGGCAGCCTGGTCCGCGCCCTGCACGACCAGCGCGTCCTGGTGGAGCCCTATGTGCGGGTGTCTTTCCTGGGGCAGGAG___GGCGAGACGTCGGTGAGCGCCGAGGCGGCGGCGCCCGAATGGAACGAGCAGCTGAGCTTCGTGGAGCTCTTCCCGCCGCTGACGCGCAGCCTCCGCCTGCAGCTGCGGGACGACGCGCCCCTGGTCGACGCGGCACTCGCTACGCACGTGCCGGACCTGAGGCGGATCTCCCATCCGGGCCGCGCGG___CGGGGTTTAACCCTACCTTCGGCCCGGCCTGGGTGCCCCTCTATGGCTCGCCCCCCGGCGCGGGGCTCCGGGATAGTCTTCAAGGTCTCAACGAAGGCGTTGGCCAAGGCATTTGGTTCCGCGGCCGCCTTCTGCTGGCTGTGTCCATGCAGGTGTTGGAAGGGAGAGCTGAACCTGAGCCTCCCCAGGCCCAGCAGGGGTCCACGTTGTCCCGGCTCACCCGAAAGAAGAAAAAGAAAGCCAGAAGGGATCAGACCCCAAAGGCGGTTCCGCAGCACTTGGACGCCAGCCCCGGTGCCGAGGGGCCTGAGATCCCCCGTGCCATGGAGGTGGAGGTGGAGGAGCTGCTGCCGCTGCCAGAG___AATGTCCTGGCGCCCTGTGAAGATTTCCTGCTTTTCGGTGTGCTCTTCGAGGCCACCATGATCGACCCCACCGTGGCCTCCCAGCCCATCAGCTTCGAGATCTCCATTG___GTCGCGCAGGCCGTCTGGAGGAGCAATTGGGCCGAGGGTCCAGGGCTGGGGAGGGAACTGAGGGTGCAGCCGTGGAGGCTCAGCCTCTGCTGGGAGCCAGGCCAGAGGAGGAGAAAGAGGAGGAAGAACTGGGGACCCATGCTCAGCGGCCTGAGCCCATGGACGGCAGTGG___GCCATACTTCTGCTTGCCCCTCTGTCACTGCAAGCCATGCATGCATGTGTGGAGTTGCTGGGAGGACCACACCTGGCGCCTGCAGAGCAGCAACTGCGTGCGCAAAGTGGCCGAGAGGCTG___GACCAGGGGCTGCAGGAGGTTGAGAGACTGCAGCGCAAGCCGGGGCCTGGCGCCTGTGCACAGCTCAAGCAGGCACTGGAAGTACTGGTGGCTGGGAGCAG___ACAGTTTTGCCACGGTGCCGAGCGCAGGACGATGACCCGGCCCAATGCCCTGGATCGATGCCGAGGGAAACTCCTGGTGCACAGCCTG___AACCTTTTGGCTAAGCAAGGACTGCGACTTCTACGCGGCCTGAGACGGCGCAATGTGCAAAAGAAGGTGGCACTGGCCAAGAAGCTCCTGGCAAAACTGCGCTTTCTGGCTGAGGAG___CCCCAGCCACCCCTCCCCGATGTGCTGGTCTGGATGCTCAGCGGGCAGCGCCGTGTGGCCTGGGCCCGGATCCCTGCCCAGGATGTGCTGTTCTCTGTGGTTGAGGAGGAACGGGGCCGAGACTGTGGGAAGATCCAGAGTCTAATGCTCACG___GCACCCGGGGCAGCCCCTGGTGAGGTCTGTGCCAAGCTGGAGCTCTTCCTGCGGCTGGGCCTGGGCAAGCAAGCCAAGGCCTGCACCTCTGAGCTGCCCCCGGATTTGCTGCCCGAGCCCTCAGCCGGGCTGCCCTCCAGCCTACACCGGGACG___ACTTTAGCTACTTCCAACTCCGGGCTCACTTGTACCAGGCCCGGGGTGTGTTGGCTGCAGATGACAGTGGCCTCTCGGACCCCTTTGCTCGAGTCCTCATCTCTACCCAGTGTCAGACCACACGG___GTCCTGGAGCAGACGCTGAGCCCTCTGTGGGATGAACTCCTGGTATTTGAGCAGTTGATCGTGGATGGGAGGAGGGAGCACCTGCAGGAGGAGCCTCCATTAGTGATCATCAATGTATTTGACCACAATAAGTTT___GGCCCCCCCGTGTTCCTGGGCAGGGCACTGGCCGCCCCAAGGGTAAAGCTGATGGAGGACCCATACCAACGCCCAGAGTTGCAGTTCTTCCCCCTGAGGAAGGGACCCTGGGCAGCCGGAGAGCTCATTGCCGCCTTTCAACTCATTGAACTAGACTACAGTGGCCGACTTGAG___CCCTCAGTGCCCAGTGAGGTGGAGCCCCAGGATCTGGCACCCCTGGTTGAGCCCCACTCTGGACGCCTGTCCCTTCCACCCAACGTGTGCCCAGTGCTCAGGGAGTTCCGTGTTGAG___GTGCTGTTCTGGGGTCTTAGGGGACTTGGTCGTGTGCATCTGCTCGAGGTGGAGCAGCCCCAGGTTGTACTGGAGGTGGCTGGGCAAGGTGTGGAGTCTGAGGTCCTGGCCAGCTACCGTGAGAGCCCCAATTTCACTGAGCTTGTCAGGCATCTGACAGTG___GACTTGCCGGAGCAGCCTTACTTGCAGCCTCCACTCAGCATCTTGGTGATTGAGCGCCGGGCCTTTGGCCACACAGTCCTTGTGGGTTCCCACATTGTCCCCCACATGCTGCGATTCACATTTCGGGGTCATGAGGATCCTCCTGAGGAGGAAGGAGAGATGGAGGAGACAGGGGATATGATGCCCAAGGGACCTCAAG___GACAGAAGTCCCTGGATCCCTTCTTGGCTGAAGCGGGTATATCCAGACAGCTCCTGAAG___CCTCCTCTGAAGAAGCTCCCACTAGGAGGCCTCCTAAATCAAGGCCCTGGGCTGGAGGAAGACATCCCAGATCCAGAGGAGCTCGACTGGGGGTCCAAGTACTATGCGTCGCTGCAGGAGCTCCAGGGGCAG___CACAACTTTGATGAAGATGAAATGGATGATCCTGGAGATTCAG___ATGGGGTCAACCTCATTTCTATGGTTGGGGAGATCCAAGACCAGGGTGAGGCTGAAGTCAAAGGCACTGTGTCCCCAAAAAAAGCAGTTGCCACCCTGAAG___ATCTACAACAGGTCCCTGAAGGAAGAATTTAACCACTTTGAAGACTGGCTGAATGTGTTTCCTCTGTACCGAGGGCAAGGGGGCCAGGATGGAGGTGGAGAAGAGGAAGGATCTGGACACCTTGTGGGCAAGTTCAAG___GGCTCCTTCCTCATTTACCCTGAATCAGAGGCAGTGTTGTTCTCTGAGCCCCAGATCTCCCGGGGGATCCCACAGAACCGGCCCATCAAGCTCCTGGTCAGAGTGTATGTTGTAAAG___GCTACCAACCTGGCTCCTGCAGACCCCAATGGCAAAGCAGACCCTTACGTGGTGGTGAGCGCTGGCCGGGAGCGGCAGGACACCAAGGAACGCTACATCCCCAAGCAGCTCAACCCCATCTTTGGAGA___GATCCTGGAGCTAAGCATCTCTCTCCCAGCTGAGACGGAGCTGACGGTCGCCGTATTTGATCATGACCTCGTGGGTTCTGACGACCTCATCGGGGAGACCCACATTGATCTGGAAAACCGATTCTATAGCCACCACAGAGCAAACTGTGGGCTGGCCTCCCAGTATGAAGT___AGATGGTTACAATGCCTGGCGTGATGCATTCTGGCCTTCGCAGATCCTGGCGGGGCTGTGCCAACGCTGTGGCCTCCCTGCCCCTGAATACCGAGCCGGTGCTGTCAAGGTGGGCAGCAAAGTCTTCCTGACACCACCGGAGACCCTGCCCCCAG___GCAGCAGCAGCCCCACAGTGGCGAGCGGGGACCCTGAAGAGGCCCAGGCATTGCTTGTGCTGCGGCGCTGGCAGGAAATGCCGGGTTTTGGGATCCAGCTGGTACCCGAGCATGTAGAAACCAGGCCTCTCTACCATCCCCACAGCCCAGGGCTGCTACAG___GGATCTCTTCACATGTGGATTGACATCTTTCCTCAAGATGTGCCTGCTCCACCCCCAGTTGACATCAAGCCTCGGCAGCCAATCAG___CTATGAGCTCAGAGTTGTCATCTGGAACACGGAGGATGTGGTTCTGGACGACGAGAATCCACTCACCGGAGAGATGTCGAGTGACATCTATGTGAAGAG___CTGGGTGAAGGGGTTGGAGCATGACAAGCAGGAGACAGACGTTCACTTCAACTCCCTGACTGGGGAGGGGAACTTCAATTGGCGCTTTGTGTTCCGCTTTGACTACCTGCCCACGGAGCGGGAGGTGAGCGTCCGGCGCAGGTCTGGACCCTTTGCCCTGGAGGAGGCGGAGTTCCGGCAGCCTGCAGTGCTGGTCCTGCAGGTCTGGGACTATGACCGCATCTCTGCCAATGACTTCCTTG___GATCCCTGGAGTTGCAGCTACCAGACATGGTGCGTGGGGCCCGGGGCCCCGAGCTCTGCTCTGTGCAGCTGGCCCGCAATGGGGCCGGGCCGAGGTGCAATCTGTTTCGCTGCTGCCGCCGCCTGAGGGGCTGGTGGCCGGTAGTGAAGCTGAAGGAGGCAGAGGACGTGGAGCGGGAGGCGCAGGAGGCTCAGGCTGGCAAGAAGAAGCGAAAGCAGAGGAGGAGGAAGGGCCGGCCAGAAGACCTGGAGTTCACAGACATGGGTGGCAATGTGTACATCCTCACG___GGCAAGGTGGAGGCAGAGTTTGAGCTGCTGACTGTGGAGGAGGCCGAGAAACGGCCAGTGGGGAAGGGGCGGAAGCAGCCAGAGCCTCTGGAGAAACCCAG___CCGCCCCAAAACTTCCTTCAACTGGTTTGTGAACCCGCTGAAGACCTTTGTCTTCTTCATCTGGCGCCGGTACTGGCGCACCCTGGTGCTGCTGCTACTGGTGCTGCTCACCGTCTTCCTCCTCCTGGTCTTCTACACCATCCCTGGCCAGATCAGCCAGGTCATCTTCCGTCCCCTCCACAAGTGA)$ . 01BR020 ENSG00000244005.13 ENSG00000088340.17 -/- -/- chr20:35672755 chr20:35604621 CDS/splice-site exon/splice-site deletion/read-through 6 5 0 54 49 high out-of-frame . Aminotransferase_class-V(100%)| . . ENSG00000244005.13 ENSG00000088340.17 ENST00000374092.9 ENST00000615531.4 upstream downstream . ^(ACTTCCGGGAGCCTGGGGCCCAGGACTGCAGCGGCTTCGGAAGGTGGGCTCTGCCAGCGGGACCATGCTGCTCCGAGCCGCTTGGAGGCGGGCGGCAGTGGCGGTGACAGCGGCTCCAGGGCCGAAGCCCGCGGCGCCCACTCGGGGGCTGCGCCTGCGCG___TTGGAGACCGTGCTCCTCAGTCTGCGGTTCCCGCAGATACAGCCGCTGCCCCGGAGGTGGGGCCAGTGCTGCGACCTCTCTATATGGATGTGCAAGCTACAACTCCTCTG___GACCCCCGGGTGCTTGATGCCATGCTCCCTTACCTAATCAACTACTATGGGAACCCACACTCCCGGACACATGCTTATGGCTGGGAGAGTGAGGCAGCCATGGAACGTGCTCGTCAG___CAAGTAGCATCTCTGATTGGAGCTGATCCTCGTGAGATCATTTTTACTAGTGGTGCTACTGAATCCAACAACATAGCAATTAAG___GGGGTGGCCCGATTCTACAGGTCACGGAAAAAGCACTTGATCACCACCCAGACAGAACACAAATGTGTCTTGGACTCCTGCCGTTCACTGGAAGCTGAGGGCTTTCAGGTCACCTACCTCCCAGTGCAGAAGAGTGGGATCATTGACCTAAAG___GAACTAGAGGCTGCTATCCAGCCAGATACTAGCCTGGTGTCAGTCATGACTGTGAACAATGAGATTGGAGTGAAGCAGCCTATTGCAGAAATAG___GGCGGATTTGCAGTTCCAGAAAGGTATATTTCCATACTGATGCAGCCCAGGCTGTTGGAAAAATCCCACTTGATGTCAATGACATGAAAATTGATCTCATGAGCATTAGTGGTCACAAAATCTACGGTCCCAAAG___GGGTTGGTGCCATCTACATCCGTCGCCGGCCCCGTGTGCGTGTGGAGGCCCTGCAGAGTGGAGGGGGGCAGGAGCGGGGTATGCGGTCTGGGACAGTGCCCACACCCTTAGTGGTGGGGCTGGGGGCTGCGTGTGAGGTGGCACAGCAAGAGATGGAG___TATGACCACAAGCGAATCTCAAAGTTGTCAGAGCGGCTGATACAGAATATAATGAAGAGCCTTCCAGATGTGGTGATGAATGGGGACCCTAAGCACCATTATCCCG___GCTGTATCAACCTCTCCTTTGCATAT)GTGGAAGGGGAAAGTCTGCTGATGGCACTGAAGGACGTTGCCTTATCCTCAGGGAG___TGCCTGCACCTCTGCATCCCTGGAGCCCTCTTATGTGCTTAGcGCAATTGGCACTGATGAGGATTTAGCGCACTCTTCTATCAG___GTTTGGAATTGGCCGCTTCACTACAGAGGAGGAAGTGGACTACACAGTGGAGAAATGCATTCAGCATGTGAAGCGTCTTCGAGAAATGAG|ATCCAGGTGGAGCTTGACCTGAAGTACCAGCCCCCAGAGGGCGCTACTGGAGCCTGGTCAGAGGAGGACTTTGGGGCACCCATCCAGGACAG___CTTCGAGTTAATCATCCCC(AATGTGGGCTTCCAGGAACTGGA___GCCTGGGGAGGCCCAGCTGGAGCGGCGGGCAGTGGCTCTAGGCCGCAGGCTAGCTCGAAGTCTAGGCCAGCAGGACGATGAAGAGAATGAGCTGGAGCTTGAGCTGGAGCAGGACCTGGATGATGAGCCTGACGTGGAACTTTCTGGTGTTATGTTCAGCCCCCTCAAGAG___CCGCGCCAGGGCCCTGGCCCATGGGGATCCCTTCCAGGTGTCCAGAGCTCAAGACTTCCAG___GTGGGAGTCACTGTGCTGGAAGCCCAGAAACTGGTGGGAGTCAACATTAACCCCTATGTGGCCGTGCAAGTGGGGGGGCAGCGCCGTGTGACCGCCACACAGCGTGGGACCAGTTGCCCCTTCTACAATGAG___TACTTCTTGTTCGAATTTCATGACACGCGGCTTCGTCTCCAAGACTTGCTGCTGGAGATCACG___GCTTTCCATTCGCAGACCCTCCCCTTTATGGCCACCCGGATAGGCACCTTCAGGATGGACCTGGGCATCATCTTGGACCAGCCAG___ATGGCCAGTTCTACCAAAGATGGGTTCCGCTGCATGATCCCCGAGACACCCGCGCCGGGACCAAGGGTTTCATTAAGGTCACCTTGTCCGTGAGGGCGCGCGGGGACCTGCCCCCTCCAATGCTACCCCCGGCCCCAGGGCACTGTTCGGACATCGAGAA___GAACCTGCTCCTGCCGCGCGGGGTGCCCGCCGAGAGGCCATGGGCGCGGCTCCGCGTGCGCCTGTACCGCGCCGAGGGGCTTCCCGCGCTGCGCCTGGGGCTGCTGGGCAGCCTGGTCCGCGCCCTGCACGACCAGCGCGTCCTGGTGGAGCCCTATGTGCGGGTGTCTTTCCTGGGGCAGGAG___GGCGAGACGTCGGTGAGCGCCGAGGCGGCGGCGCCCGAATGGAACGAGCAGCTGAGCTTCGTGGAGCTCTTCCCGCCGCTGACGCGCAGCCTCCGCCTGCAGCTGCGGGACGACGCGCCCCTGGTCGACGCGGCACTCGCTACGCACGTGCCGGACCTGAGGCGGATCTCCCATCCGGGCCGCGCGG___CGGGGTTTAACCCTACCTTCGGCCCGGCCTGGGTGCCCCTCTATGGCTCGCCCCCCGGCGCGGGGCTCCGGGATAGTCTTCAAGGTCTCAACGAAGGCGTTGGCCAAGGCATTTGGTTCCGCGGCCGCCTTCTGCTGGCTGTGTCCATGCAGGTGTTGGAAGGGAGAGCTGAACCTGAGCCTCCCCAGGCCCAGCAGGGGTCCACGTTGTCCCGGCTCACCCGAAAGAAGAAAAAGAAAGCCAGAAGGGATCAGACCCCAAAGGCGGTTCCGCAGCACTTGGACGCCAGCCCCGGTGCCGAGGGGCCTGAGATCCCCCGTGCCATGGAGGTGGAGGTGGAGGAGCTGCTGCCGCTGCCAGAG___AATGTCCTGGCGCCCTGTGAAGATTTCCTGCTTTTCGGTGTGCTCTTCGAGGCCACCATGATCGACCCCACCGTGGCCTCCCAGCCCATCAGCTTCGAGATCTCCATTG___GTCGCGCAGGCCGTCTGGAGGAGCAATTGGGCCGAGGGTCCAGGGCTGGGGAGGGAACTGAGGGTGCAGCCGTGGAGGCTCAGCCTCTGCTGGGAGCCAGGCCAGAGGAGGAGAAAGAGGAGGAAGAACTGGGGACCCATGCTCAGCGGCCTGAGCCCATGGACGGCAGTGG___GCCATACTTCTGCTTGCCCCTCTGTCACTGCAAGCCATGCATGCATGTGTGGAGTTGCTGGGAGGACCACACCTGGCGCCTGCAGAGCAGCAACTGCGTGCGCAAAGTGGCCGAGAGGCTG___GACCAGGGGCTGCAGGAGGTTGAGAGACTGCAGCGCAAGCCGGGGCCTGGCGCCTGTGCACAGCTCAAGCAGGCACTGGAAGTACTGGTGGCTGGGAGCAG___ACAGTTTTGCCACGGTGCCGAGCGCAGGACGATGACCCGGCCCAATGCCCTGGATCGATGCCGAGGGAAACTCCTGGTGCACAGCCTG___AACCTTTTGGCTAAGCAAGGACTGCGACTTCTACGCGGCCTGAGACGGCGCAATGTGCAAAAGAAGGTGGCACTGGCCAAGAAGCTCCTGGCAAAACTGCGCTTTCTGGCTGAGGAG___CCCCAGCCACCCCTCCCCGATGTGCTGGTCTGGATGCTCAGCGGGCAGCGCCGTGTGGCCTGGGCCCGGATCCCTGCCCAGGATGTGCTGTTCTCTGTGGTTGAGGAGGAACGGGGCCGAGACTGTGGGAAGATCCAGAGTCTAATGCTCACG___GCACCCGGGGCAGCCCCTGGTGAGGTCTGTGCCAAGCTGGAGCTCTTCCTGCGGCTGGGCCTGGGCAAGCAAGCCAAGGCCTGCACCTCTGAGCTGCCCCCGGATTTGCTGCCCGAGCCCTCAGCCGGGCTGCCCTCCAGCCTACACCGGGACG___ACTTTAGCTACTTCCAACTCCGGGCTCACTTGTACCAGGCCCGGGGTGTGTTGGCTGCAGATGACAGTGGCCTCTCGGACCCCTTTGCTCGAGTCCTCATCTCTACCCAGTGTCAGACCACACGG___GTCCTGGAGCAGACGCTGAGCCCTCTGTGGGATGAACTCCTGGTATTTGAGCAGTTGATCGTGGATGGGAGGAGGGAGCACCTGCAGGAGGAGCCTCCATTAGTGATCATCAATGTATTTGACCACAATAAGTTT___GGCCCCCCCGTGTTCCTGGGCAGGGCACTGGCCGCCCCAAGGGTAAAGCTGATGGAGGACCCATACCAACGCCCAGAGTTGCAGTTCTTCCCCCTGAGGAAGGGACCCTGGGCAGCCGGAGAGCTCATTGCCGCCTTTCAACTCATTGAACTAGACTACAGTGGCCGACTTGAG___CCCTCAGTGCCCAGTGAGGTGGAGCCCCAGGATCTGGCACCCCTGGTTGAGCCCCACTCTGGACGCCTGTCCCTTCCACCCAACGTGTGCCCAGTGCTCAGGGAGTTCCGTGTTGAG___GTGCTGTTCTGGGGTCTTAGGGGACTTGGTCGTGTGCATCTGCTCGAGGTGGAGCAGCCCCAGGTTGTACTGGAGGTGGCTGGGCAAGGTGTGGAGTCTGAGGTCCTGGCCAGCTACCGTGAGAGCCCCAATTTCACTGAGCTTGTCAGGCATCTGACAGTG___GACTTGCCGGAGCAGCCTTACTTGCAGCCTCCACTCAGCATCTTGGTGATTGAGCGCCGGGCCTTTGGCCACACAGTCCTTGTGGGTTCCCACATTGTCCCCCACATGCTGCGATTCACATTTCGGGGTCATGAGGATCCTCCTGAGGAGGAAGGAGAGATGGAGGAGACAGGGGATATGATGCCCAAGGGACCTCAAG___GACAGAAGTCCCTGGATCCCTTCTTGGCTGAAGCGGGTATATCCAGACAGCTCCTGAAG___CCTCCTCTGAAGAAGCTCCCACTAGGAGGCCTCCTAAATCAAGGCCCTGGGCTGGAGGAAGACATCCCAGATCCAGAGGAGCTCGACTGGGGGTCCAAGTACTATGCGTCGCTGCAGGAGCTCCAGGGGCAG___CACAACTTTGATGAAGATGAAATGGATGATCCTGGAGATTCAG___ATGGGGTCAACCTCATTTCTATGGTTGGGGAGATCCAAGACCAGGGTGAGGCTGAAGTCAAAGGCACTGTGTCCCCAAAAAAAGCAGTTGCCACCCTGAAG___ATCTACAACAGGTCCCTGAAGGAAGAATTTAACCACTTTGAAGACTGGCTGAATGTGTTTCCTCTGTACCGAGGGCAAGGGGGCCAGGATGGAGGTGGAGAAGAGGAAGGATCTGGACACCTTGTGGGCAAGTTCAAG___GGCTCCTTCCTCATTTACCCTGAATCAGAGGCAGTGTTGTTCTCTGAGCCCCAGATCTCCCGGGGGATCCCACAGAACCGGCCCATCAAGCTCCTGGTCAGAGTGTATGTTGTAAAG___GCTACCAACCTGGCTCCTGCAGACCCCAATGGCAAAGCAGACCCTTACGTGGTGGTGAGCGCTGGCCGGGAGCGGCAGGACACCAAGGAACGCTACATCCCCAAGCAGCTCAACCCCATCTTTGGAGA___GATCCTGGAGCTAAGCATCTCTCTCCCAGCTGAGACGGAGCTGACGGTCGCCGTATTTGATCATGACCTCGTGGGTTCTGACGACCTCATCGGGGAGACCCACATTGATCTGGAAAACCGATTCTATAGCCACCACAGAGCAAACTGTGGGCTGGCCTCCCAGTATGAAGT___AGATGGTTACAATGCCTGGCGTGATGCATTCTGGCCTTCGCAGATCCTGGCGGGGCTGTGCCAACGCTGTGGCCTCCCTGCCCCTGAATACCGAGCCGGTGCTGTCAAGGTGGGCAGCAAAGTCTTCCTGACACCACCGGAGACCCTGCCCCCAG___GCAGCAGCAGCCCCACAGTGGCGAGCGGGGACCCTGAAGAGGCCCAGGCATTGCTTGTGCTGCGGCGCTGGCAGGAAATGCCGGGTTTTGGGATCCAGCTGGTACCCGAGCATGTAGAAACCAGGCCTCTCTACCATCCCCACAGCCCAGGGCTGCTACAG___GGATCTCTTCACATGTGGATTGACATCTTTCCTCAAGATGTGCCTGCTCCACCCCCAGTTGACATCAAGCCTCGGCAGCCAATCAG___CTATGAGCTCAGAGTTGTCATCTGGAACACGGAGGATGTGGTTCTGGACGACGAGAATCCACTCACCGGAGAGATGTCGAGTGACATCTATGTGAAGAG___CTGGGTGAAGGGGTTGGAGCATGACAAGCAGGAGACAGACGTTCACTTCAACTCCCTGACTGGGGAGGGGAACTTCAATTGGCGCTTTGTGTTCCGCTTTGACTACCTGCCCACGGAGCGGGAGGTGAGCGTCCGGCGCAGGTCTGGACCCTTTGCCCTGGAGGAGGCGGAGTTCCGGCAGCCTGCAGTGCTGGTCCTGCAGGTCTGGGACTATGACCGCATCTCTGCCAATGACTTCCTTG___GATCCCTGGAGTTGCAGCTACCAGACATGGTGCGTGGGGCCCGGGGCCCCGAGCTCTGCTCTGTGCAGCTGGCCCGCAATGGGGCCGGGCCGAGGTGCAATCTGTTTCGCTGCTGCCGCCGCCTGAGGGGCTGGTGGCCGGTAGTGAAGCTGAAGGAGGCAGAGGACGTGGAGCGGGAGGCGCAGGAGGCTCAGGCTGGCAAGAAGAAGCGAAAGCAGAGGAGGAGGAAGGGCCGGCCAGAAGACCTGGAGTTCACAGACATGGGTGGCAATGTGTACATCCTCACG___GGCAAGGTGGAGGCAGAGTTTGAGCTGCTGACTGTGGAGGAGGCCGAGAAACGGCCAGTGGGGAAGGGGCGGAAGCAGCCAGAGCCTCTGGAGAAACCCAG___CCGCCCCAAAACTTCCTTCAACTGGTTTGTGAACCCGCTGAAGACCTTTGTCTTCTTCATCTGGCGCCGGTACTGGCGCACCCTGGTGCTGCTGCTACTGGTGCTGCTCACCGTCTTCCTCCTCCTGGTCTTCTACACCATCCCTGGCCAGATCAGCCAGGTCATCTTCCGTCCCCTCCACAAGTGA)$ MLLRAAWRRAAVAVTAAPGPKPAAPTRGLRLRVGDRAPQSAVPADTAAAPEVGPVLRPLYMDVQATTPLDPRVLDAMLPYLINYYGNPHSRTHAYGWESEAAMERARQQVASLIGADPREIIFTSGATESNNIAIKGVARFYRSRKKHLITTQTEHKCVLDSCRSLEAEGFQVTYLPVQKSGIIDLKELEAAIQPDTSLVSVMTVNNEIGVKQPIAEIGRICSSRKVYFHTDAAQAVGKIPLDVNDMKIDLMSISGHKIYGPKGVGAIYIRRRPRVRVEALQSGGGQERGMRSGTVPTPLVVGLGAACEVAQQEMEYDHKRISKLSERLIQNIMKSLPDVVMNGDPKHHYPGCINLSFAYVEGESLLMALKDVALSSGSACTSASLEPSYVLsAIGTDEDLAHSSIRFGIGRFTTEEEVDYTVEKCIQHVKRLREMr|srwslt* 01BR020 ENSG00000105698.16 ENSG00000231166.2(186761),ENSG00000078725.13(215523) +/+ ./+ chr19:35271141 chr9:118951106 CDS/splice-site intergenic translocation 4 4 0 516 22 high out-of-frame . Helix-loop-helix_DNA-binding_domain(100%)| . . ENSG00000105698.16 . ENST00000222305.8 . downstream upstream mismatches(1) ^(GTATCTCCTCCGTCCCCTCCTGCCGCGCGGCGTGAGCGCCGGGCTCGGGGCCCCCCCGGCCGCCCGCCCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCCTCCCCCCCGGGCCCCGCGCCCCCCCCGCCCCCGCCCCCCCCATGGACATGCTGGACCCGGGTCTGGATCCCGCTGCCTCGGCCACCGCTGCTGCCGCCGCCAG___CCACGACAAGGGACCCGAGGCGGAGGAGGGCGTCGAGCTGCAGGAAG___GCGGGGACGGCCCAGGAGCGGAGGAGCAGACAGCGGTGGCCATCACCAGCGTCCAGCAGGCGGCGTTCGGCGACCACAACATCCAGTACCAGTTCCGCACAGAGACAAATGGAGGACAG___GTGACATACCGCGTAGTCCAGGTGACTGATGGTCAGCTGGACGGCCAGGGCGACACAGCTGGCGCCGTCAGCGTCGTGTCCACCGCTGCCTTCGCGGGGGGGCAGCAGGCTGTGACCCAGGTGGGTGTGGACGGGGCAGCCCAGCGCCCGGGCCCCGCCGCTGCCTCTGTGCCCCCAGGTCCTGCAGCGCCCTTCCCGCTG___GCTGTGATCCAAAATCCCTTCAGCAATGGTGGCAGTCCGGCGGCCGAGGCTGTCAGCGGGGAGGCACGATTTGCCTATTTCCCAGCGTCCAGTGTGGGAGAT)ACTACGGCTGTGTCCGTACAGACCACAGACCAGAGCTTGCAGGCTGGAG___GCCAGTTCTACGTCATGATGACGCCCCAGGATGTGCTTCAGACAGGAACACAGAGGACGATCGCCCCCCGGACACACCCTTACTCTCC___AAAAATTGATGGAACCAGAACACCCCGAGATGAGAGGAGAAGAGCCCAGCACAACGAAG|ATGACCTTTCATCTTATTTCTCATCTGCTGGTCCCATCAACCCTAACTTTGTATCTGCTAAAACTCAG___AAGCTTTTATAAGACAGCACATCCTCTCTTATGTTCTCTTCGCGTTTCTGCAGTGACAGTG...___GGAAGAGTGGCTTATTTAATTGGTGAATTTTAGAGAAGAAATTGAGAATGTCTGCTACTTTTCATC MDMLDPGLDPAASATAAAAASHDKGPEAEEGVELQEGGDGPGAEEQTAVAITSVQQAAFGDHNIQYQFRTETNGGQVTYRVVQVTDGQLDGQGDTAGAVSVVSTAAFAGGQQAVTQVGVDGAAQRPGPAAASVPPGPAAPFPLAVIQNPFSNGGSPAAEAVSGEARFAYFPASSVGDTTAVSVQTTDQSLQAGGQFYVMMTPQDVLQTGTQRTIAPRTHPYSPKIDGTRTPRDERRRAQHNE|ddlssyfssagpinpnfvsaktqkll* 01BR020 ENSG00000131381.12 ENSG00000243945.1(456184),ENSG00000240895.1(93531) -/- ./+ chr3:15095973 chr3:110433951 CDS/splice-site intergenic inversion 0 6 1 56 15 high out-of-frame . . . . ENSG00000131381.12 . ENST00000253699.7 . upstream upstream . ^(GAGTTCCGAGCGACCGATGGAGATGGCGGCTGCGGCTGAGTGACGGACGGTGGAGGCCCAGAGCCCGGGCCTGAAGGGGGGGACAAACCTGGGTGCCCGCAGGAGCCCGGCAGG___GTACTGTGCTAAACCCTGGGGAGACGGCGAAGTGGAAAACATATAGAGTCTGTGCCCTCCCAGATTTTACAGTCTTACTTGGTCACTTCACGTATGTACCTGCGGTTATAAATTGAGATGAGTGCTGTGAAGGAGAAGTCCATTCTGATGCTCTGA___GTGTCTTACAAGTATCAAGAACTTACTATATGTGGTTGAATAAACAATCAAGGTAAAGAGCATCAAGTAAAAACTTCTGCTTGTTGATAAGTACTTCAGACATTCCCCCAGTGGCTGAAGTGGCATATGAATTATGAAGTTGGATCATTTGGAATGAATGTAAGAGAATTGCCAAG___GGCTCCTCCTACTCCAGAGAGGAAACCTCATCCAGGGCCATGAAGCCACTTCCTCACCATCTGTGTGCTGCTTAAGCTAATGCTGCGGGAACCATGGTTCCTTGGGAGGAATCAAGCTGACTCTTGGCATGAGATTCCTGCCTTCCTAGGGTTGAGAGCGGCACTGCCATGG)CTTCTCTGGACGACCCAGGGGAAGTGAGGGAGGGCTTCgTCTGCCCTCTGTGCCTGAAGGATtTGCAGTCTTTCTATCAGCTTCACTCACATTACGAGGAAGAACACTCAGGGGAAGACCGTGATGTCAAAGGGCAAATTAAAA|GGCCTGGGACGCAGGGATCTATCTCATGAAGTTTTGACACGAAAAGTGAGTGAAGAGACTGATACCCTAATATGGCCCATAGATATGCCATAGACGAACAATGCTCAACAAATTCTCCAAGTACTCTCCTACATGTCCTAGCTTCCTTTGCCATTAAGTTGGGGTCATGGGACTAGTTCTGGCAAATGAATTGTGCAGAACTATGAGTACTACTTCTGGGCCAAGGCAGTTAGGAGACGACTTGCCTCTTTCATCTCTCTTTCTGGCTTGGAAGCCGTGTCTTGAGATGGTTGTCACAGCTGGGTGAATCCTGTTTTCTAAGTCCAAATGTTTCCCAAAAAT MASLDDPGEVREGFvCPLCLKDLQSFYQLHSHYEEEHSGEDRDVKGQIK|rpgtqgsis* 01BR020 ENSG00000168036.18 ENSG00000182606.16 +/+ +/- chr3:41225861 chr3:42014930 CDS/splice-site intron inversion/3'-3' 5 2 0 241 6 high out-of-frame . Armadillo/beta-catenin-like_repeat(100%)| . . ENSG00000168036.18 ENSG00000182606.16 ENST00000643541.1 . downstream downstream mismatches(1) ^(GGGGAGAATGAAAGAAATTTAGGCAAATTAAGCCCCAAAGCGCACTATAATTTTCTATTTCTGAACTGATTTGTAAGAGAATGGGTAACTGAAATTAGCAAAGAATCACCCCACACAAAGATGGCGCGTGCAGAATTTGTGAAAGCGAAAAAGAAGACGAAGGAGAAGCAAAGAGGGACGGAATACTGCAGTGCTAGGGTG___CTGGAGTCCAGAAATGATTTTTTCGATGAATTTAGGATTTTGCCGCAGTATACATCTGCAGTCCCAGAATCCTCCG___GGTATTTGAAGTATACCATACAACTGTTTTGAAAATCCAGCGTGGACAATGGCTACTCAAG___CTGATTTGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTG___ATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATTAACTATCAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGACAAAACTGCTAAATGACGAGGACCAG___GTGGTGGTTAATAAGGCTGCAGTTATGGTCCATCAGCTTTCTAAAAAGGAAGCTTCCAGACACGCTATC)ATGCGTTCTCCTCAGATGGTGTCTGCTATTGTACGTtCCATGCAGAATACAAATGATGTAGAAACAGCTCGaTGTACCGgTGGGACCTTGCATAACCTTTCCCtTCATCGTGAGGGCTTACTGGCCATCTTTAAGTCTGGAGGCATTCCTGCCCTGGTGAAAATGCTTGG___TTCACCAGTGGATTCTGTGTTGTTTTATGCCATTACAACTCTCCACAACCTTTTATTACATCAAGAAGGAGCTAAAATGGCAGTGCGTTTAGCTGGTGGGCTGCAGAAAATGGTTGCCTTGCTCAACAAAACAAATGTTAAATTCTTGGCTATTACGACAGACTGCCTTCAAATTTTAGCTTATGGCAACCAAGAAAGCAAG|ATAAACAAAAGACCCTCCAGAAAAGGTTACCAGTCCCGAATACACACTCACAGACAGTATTGACAACGTTTACACTTTTGAAGCAAATAAAGTTCCAGTGAAGCATATCAGAAAAAAAAAAAA MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSKKEASRHAIMRSPQMVSAIVRsMQNTNDVETARCTgGTLHNLSlHREGLLAIFKSGGIPALVKMLGSPVDSVLFYAITTLHNLLLHQEGAKMAVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESK|inkrpsrkgyqsrihthrqy* 01BR020 ENSG00000122696.14 ENSG00000226566.2(46952),ENSG00000253031.1(212629) -/- ./+ chr9:37899829 chr9:103476844 5'UTR/splice-site intergenic inversion 3 2 1 33 9 high . . . . . ENSG00000122696.14 . ENST00000242275.7 . upstream upstream duplicates(1) ^(AGTCTGCGCCTGCGCGGGCCCCGGCT)CGCTAGCCGTCCTGCGGGACGCCGGCGCTGATGG___GAAATCCAGTTATCAAAATTGACTCAAGAAGAGAGAACCTAACAGAACAATAACAATGGAAGAAATTGGGAACATTATCACAAAGCTATCATCCTGCCAAACTCCAGGCTCAGATGTCACAG|TGATATGGAGCATGATACTCTGTTGTGATGTTGGGCAGCAGTCGTGAGCCACAGCTCCCAGTCAGTCATGGGATCCCAAGATGAGTCTACAGGTGGTTTTGCCCAAATGGAGACAAAT___GTCTTGGAATTCTGATGGACAAAACCAACATTGCCTCTGGCAGG . 01BR020 ENSG00000132170.22 ENSG00000114544.16 +/+ -/+ chr3:12417154 chr3:126081076 CDS/splice-site intron deletion/5'-5' 2 4 0 333 14 high out-of-frame . Ligand-binding_domain_of_nuclear_hormone_receptor(100%),PPAR_gamma_N-terminal_region(100%),Zinc_finger__C4_type_(two_domains)(100%)| . . ENSG00000132170.22 ENSG00000114544.16 ENST00000397010.7 . downstream upstream . ^(AACTTACAAACGCAAGGAACTCTGAAAGTGTGCAGCACCACCGATCAGAAGAGAAAACCAAGGGACCCGAAATATGCTTTAATTAAATTTTCTTTTAAAATGTCACTGGAAAGAACATCTTGGGAAGACGGCCTGGCCGATCGCCGTGTGAAGGGCAAGCCACTCTGGCCGAGAGGGAGCCCCACACCTCGGTCTCCCCAGACCGGCCCTGGCCGGGGGCATCCCCCTAAACTTCGGATCCCTCCTCGGAAATGGGACCCTCTCTGGGCCGCCTCCCAGCGGTGGTGGCGAGGAGCAAACGACACCAG___ATTTGAAAGAAGCCAACACTAAACCACAAATATACAACAAGGCCATTTTCTCAAACGAGAGTCAGCCTTTAACG___AAATGACCATGGTTGACACAGAGATGCCATTCTGGCCCACCAACTTTGGGATCAGCTCCGTGGATCTCTCCGTAATGGAAGACCACTCCCACTCCTTTGATATCAAGCCCTTCACTACTGTTGACTTCTCCAGCATTTCTACTCCACATTACGAAGACATTCCATTCACAAGAACAGATCCAGTGGTTGCAGATTACAAGTATGACCTGAAACTTCAAGAGTACCAAA___GTGCAATCAAAGTGGAGCCTGCATCTCCACCTTATTATTCTGAGAAGACTCAGCTCTACAATAAGCCTCATGAAGAGCCTTCCAACTCCCTCATGGCAATTGAATGTCGTGTCTGTGGAGATAAAGCTTCTGGATTTCACTATGGAGTTCATGCTTGTGAAGGATGCAAG___GGTTTCTTCCGGAGAACAATCAGATTGAAGCTTATCTATGACAGATGTGATCTTAACTGTCGGATCCACAAAAAAAGTAGAAATAAATGTCAGTACTGTCGGTTTCAGAAATGCCTTGCAGTGGGGATGTCTCATAATG___CCATCAGGTTTGGGCGGATGCCACAGGCCGAGAAGGAGAAGCTGTTGGCGGAGATCTCCAGTGATATCGACCAGCTGAATCCAGAGTCCGCTGACCTCCGGGCCCTGGCAAAACATTTGTATGACTCATACATAAAGTCCTTCCCGCTGACCAAAGCAAAGGCGAGGGCGATCTTGACAGGAAAGACAACAGACAAATCA___CCATTCGTTATCTATGACATGAATTCCTTAATGATGGGAGAAGATAAAATCAAGTTCAAACACATCACCCCCCTGCAGGAGCAGAGCAAAGAGGTGGCCATCCGCATCTTTCAGGGCTGCCAGTTTCGCTCCGTGGAGGCTGTGCAGGAGATCACAGAGTATGCCAAAAGCATTCCTGGTTTTGTAAATCTTGACTTGAACGACCAAGTAACTCTCCTCAAATATGGAGTCCACGAGATCATTTACACAATGCTGGCCTCCTTGATGAATAAAGATGGGGTTCTCATATCCGAGGGCCAA)GGCTTCATGACAAGGGAGTTTCTAAAGAGCCTGCGAAAGCCTTTTGGTGACTTTATGGAGCCCAAGTTTGAGTTTGCTGTGAAGTTCAATGCACTGGAATTAGATGACAGCGACTTGGCAATATTTATTGCTGTCATTATTCTCAGTGGAG|CACTATTCACAATAGCTAAGATATGGATCAACCTAAGTTTCCATACCAGATGAAAGGATAAAGAAGATGCGGTACATATACACAATGGAGTACTATTCAGCCATAAAGAAGAATGAGATCCTGTCATCTGCAACAATATAGATGGAACTGGAGGTCATTACATTCAGTGAAATAAGCC MVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYEDIPFTRTDPVVADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTTDKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKSIPGFVNLDLNDQVTLLKYGVHEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSG|alftiakiwinlsfhtr* 01BR020 ENSG00000183337.17 ENSG00000132170.22 -/- +/+ chrX:40146468 chr3:12379704 intron CDS/splice-site translocation 1 4 1 11 109 high . . |Ligand-binding_domain_of_nuclear_hormone_receptor(100%),PPAR_gamma_N-terminal_region(100%),Zinc_finger__C4_type_(two_domains)(100%) . . ENSG00000183337.17 ENSG00000132170.22 . ENST00000287820.10 upstream upstream duplicates(1) CTGAAGCGCGTGCAGAGCTGCTGATCGCTGCCATTGTTACTCGCGGGCGGTGTGGGAGCTGAGCCTCCACTCTGGCGAGAGATAAATGGCCTCTGACAGCCCCTCCTCGCCAAGAGAGCTCCTCGGATTTCACCGCGCGGCGGCTCTCAG|AAATGACCATGGTTGACACAGAGATGCCATTCTGGCCCACCAACTTTGGGATCAGCTCCGTGGATCTCTCCGTAATGGAAGACCACTCCCACTCCTTTGATATCAAGCCCTTCACTACTGTTGACTTCTCCAGCATTTCTACTCCACATTACGAAGACATTCCATTCACAAGAACAGATCCAGTGGTTGCAGATTACAAGTATGAC(CTGAAACTTCAAGAGTACCAAA___GTGCAATCAAAGTGGAGCCTGCATCTCCACCTTATTATTCTGAGAAGACTCAGCTCTACAATAAGCCTCATGAAGAGCCTTCCAACTCCCTCATGGCAATTGAATGTCGTGTCTGTGGAGATAAAGCTTCTGGATTTCACTATGGAGTTCATGCTTGTGAAGGATGCAAG___GGTTTCTTCCGGAGAACAATCAGATTGAAGCTTATCTATGACAGATGTGATCTTAACTGTCGGATCCACAAAAAAAGTAGAAATAAATGTCAGTACTGTCGGTTTCAGAAATGCCTTGCAGTGGGGATGTCTCATAATG___CCATCAGGTTTGGGCGGATGCCACAGGCCGAGAAGGAGAAGCTGTTGGCGGAGATCTCCAGTGATATCGACCAGCTGAATCCAGAGTCCGCTGACCTCCGGGCCCTGGCAAAACATTTGTATGACTCATACATAAAGTCCTTCCCGCTGACCAAAGCAAAGGCGAGGGCGATCTTGACAGGAAAGACAACAGACAAATCA___CCATTCGTTATCTATGACATGAATTCCTTAATGATGGGAGAAGATAAAATCAAGTTCAAACACATCACCCCCCTGCAGGAGCAGAGCAAAGAGGTGGCCATCCGCATCTTTCAGGGCTGCCAGTTTCGCTCCGTGGAGGCTGTGCAGGAGATCACAGAGTATGCCAAAAGCATTCCTGGTTTTGTAAATCTTGACTTGAACGACCAAGTAACTCTCCTCAAATATGGAGTCCACGAGATCATTTACACAATGCTGGCCTCCTTGATGAATAAAGATGGGGTTCTCATATCCGAGGGCCAAGGCTTCATGACAAGGGAGTTTCTAAAGAGCCTGCGAAAGCCTTTTGGTGACTTTATGGAGCCCAAGTTTGAGTTTGCTGTGAAGTTCAATGCACTGGAATTAGATGACAGCGACTTGGCAATATTTATTGCTGTCATTATTCTCAGTGGAG___ACCGCCCAGGTTTGCTGAATGTGAAGCCCATTGAAGACATTCAAGACAACCTGCTACAAGCCCTGGAGCTCCAGCTGAAGCTGAACCACCCTGAGTCCTCACAGCTGTTTGCCAAGCTGCTCCAGAAAATGACAGACCTCAGACAGATTGTCACGGAACACGTGCAGCTACTGCAGGTGATCAAGAAGACGGAGACAGACATGAGTCTTCACCCGCTCCTGCAGGAGATCTACAAGGACTTGTACTAGCAGAGAGTCCTGAGCCACTGCCAACATTTCCCTTCTTCCAGTTGCACTATTCTGAGGGAAAATCTGACACCTAAGAAATTTACTGTGAAAAAGCATTTTAAAAAGAAAAGGTTTTAGAATATGATCTATTTTATGCATATTGTTTATAAAGACACATTTACAATTTACTTTTAATATTAAAAATTACCATATTATGAAATTGCTGATAGTA)$ . 01BR020 ENSG00000255872.3 ENSG00000226566.2(46952),ENSG00000253031.1(212629) -/- ./+ chr9:37899829 chr9:103476844 3'UTR/splice-site intergenic inversion 3 2 1 33 9 high stop-codon . . . . ENSG00000255872.3 . ENST00000540557.1 . upstream upstream duplicates(1) ^(CGGACCGGGCTCCCGCGCCGCGGCCCTAGGCGGCCTCTCGCCATGGCCAAGTGGCTAAACAAGTACTTCAGCTTGGGCAACAGCAAGACCAAGAGCCCCCCGCAGCCGCCGCGGCCAGACTACCGCGAGCAGCGGCGCCGAGGCGAGCGGCCTTCGCAGCCCCCCCAGGCCGTGCCGCAGGCCTCCTCCGCCGCCTCGGCGTCCTGCGGTCCGGCCACCGCCTCCTGCTTCTCAGCCTCTTCGGGCTCGCTGCCCGACGACAGCGGCAGCACCAGCGACCTCATCCGCGCCTACCGCGCGCAGAAGGAGCGAGACTTCGAGGACCCCTACAACGGGCCTGGCTCGTCGCTGCGCAAACTGCGCGCCATGTGCCGCCTGGACTACTGCGGCGGCAGCGGGGAGCCAGGCGGGGTCCAGCGCGCCTTCTCGGCCTCGTCCGCGTCGGGCGCCGCGGGCTGTTGCTGCGCCTCCTCGGGCGCGGGGGCCGCCGCGTCCTCGTCCTCGTCCTCCGGCTCTCCGCATCTCTACCGCAGCAGCAGCGAGCGGCGGCCCGCCACGCCGGCCGAGGTGCGCTACATCTCCCCCAAGCACCGCCTCATCAAAGTGGAGAGCGCCGCGGGCGGTGGGGCCGGGGACCCCCTGGGGGGCGCCTGCGCGGGCGGCCGCACCTGGAGCCCGACGGCCTGCGGAGGCAAGAAACTGCTCAACAAGTGCGCCGCCTCAGCCGCGGAGGAGAGCGGGGCCGGCAAGAAGGACAAG___GTGACCATAGCCGATGACTACTCAGATCCCTTTGATGCCAAGAATGATCTCAAGAGCAAAGCAGGAAAGGGGGAGAGTGCTGGCTACATGGAGCCCTATGAGGCACAGAGGATCATGACAG___GTTTACAGGAAGCATGGAGACATTCCCCCAGTGGCTGTTTTCCTGTTGGCCCTTGATGACAAAACCTTGTCAAAGCAATTGTGTGGAGTCAAGAAGAATGTGGCTGG___AATTTCAGAGGCAGGAAAGTGTCCGGTCCCAGCATAAAGGTATCCAGTTATATGACACCCCTTACGAACCTGAAGGCCAAAGTGTTGACTCAGACTCGGAGAGCACAGTCAGCCCCCGACTGCGGGAGAGCAAGCTGCCCCAGGATGACGACAGGCCCGCCGATGAGTACGACCAGCCTTGGGAGTGGAACCGGGTCACCATCCCAGCCCTGGCAG___CACAGTTTAATGGCAACGAGAAGCGGCAGTCATCCCCCTCACCTTCGCGGGACCGGCGGCGCCAGCTTCGTGCCCCTGGAGGGGGCTTTAAGCCTATCAAACATGGGAGCCCTGAGTTCTGCGGGATCCTAGGAGAAAGGGTGGATCCTGCCGTCCCCCTGGAGAAGCAAAT___ATGGTATCACGGAGCCATCAGCAGAGGAGACGCCGAGAACCTGCTGCGACTCTGCAAGGAGTGTAGCTACCTTGTCCGGAACAGCCAGACCAGCAAGCATGACTACTCCCTCTCCCTGAG___)GAAATCCAGTTATCAAAATTGACTCAAGAAGAGAGAACCTAACAGAACAATAACAATGGAAGAAATTGGGAACATTATCACAAAGCTATCATCCTGCCAAACTCCAGGCTCAGATGTCACAG|TGATATGGAGCATGATACTCTGTTGTGATGTTGGGCAGCAGTCGTGAGCCACAGCTCCCAGTCAGTCATGGGATCCCAAGATGAGTCTACAGGTGGTTTTGCCCAAATGGAGACAAAT___GTCTTGGAATTCTGATGGACAAAACCAACATTGCCTCTGGCAGG . 01BR020 ENSG00000197548.12 ENSG00000240309.1(25530),ENSG00000212598.2(414657) +/+ ./- chr3:11380052 chr3:89615627 CDS/splice-site intergenic inversion 3 2 0 56 7 high out-of-frame . ThiF_family(100%),Ubiquitin-like_modifier-activating_enzyme_ATG7_N-terminus(100%)| . . ENSG00000197548.12 . ENST00000354449.7 . downstream downstream . ^(GGAAGTTGAGCGGCG___GCAAGAAATAATGGCGGCAGCTACGGGGGATCCTGGACTCTCTAAACTGCAGTTTGCCCCTTTTAGTAGTGCCTTGGATGTTGGGTTTTGGCATGAGTTGACCCAGAAGAAGCTGAACGAGTATCGGCTGGATGAAGCTCCCAAGGACATTAAGGGTTATTACTACAATG___GTGACTCTGCTGGGCTGCCAGCTCGCTTAACATTGGAGTTCAGTGCTTTTGACAT___GAGTGCTCCCACCCCAGCCCGTTGCTGCCCAGCTATTGGAACACTGTATAACACCAACACACTCGAGTCTTTCAAGACTGCAGATAAGAAGCTCCTTTTGGAACAAGCAGCAAATGAG___ATATGGGAATCCATAAAATCAGGCACTGCTCTTGAAAACCCTGTACTCCTCAACAAGTTCCTCCTCTTGACATTTGCA___GATCTAAAGAAGTACCACTTCTACTATTGGTTTTGCTATCCTGCCCTCTGTCTTCCAGAGAGTTTACCTCTCATTCAGGGGCCAGTGGGTTTGGATCAAAGGTTTTCACTAAAACAG___ATTGAAGCACTAGAGTGTGCATATGATAATCTTTGTCAAACAGAAGGAGTCACAGCTCTTCCTTACTTCTTAATCAAGTATGATGAGAACATGGTGCTGGTTTCCTTGCTTAAACACTACAGTGATTTCTTCCAAGGTCAAAGGACGAAG___ATAACAATTGGTGTATATGATCCCTGTAACTTAGCCCAGTACCCTGGATGGCCTTTGAGGAATTTTTTGGTCCTAGCAGCCCACAGATG___GAGTAGCAGTTTCCAGTCTGTTGAAGTTGTTTGCTTCCGTGACCGTACCATGCAGGGGGCGAGAGACGTTGCCCACAGCATCATCTTCGAAGTGAAGCTTCCAGAAATGGCATTTAGCCCAG___ATTGTCCTAAAGCAGTTGGATGGGAAAAGAACCAGAAAGGAGGCATGGGACCAAGGATGGTGAACCTCAGTGAATGTATGGACCCTAAAAG___GTTAGCTGAGTCATCAGTGGATCTAAATCTCAAACTGATGTGTTGGAGATTGGTTCCTACTTTAGACTTGGACAAGGTTGTGTCTGTCAAATGTCTGCTGCTTGGAGCCGGCACCTTGGGTTGCAATGTAGCTAGGACGTTGATG___GGTTGGGGCGTGAGACACATCACATTTGTGGACAATGCCAAGATCTCCTACTCCAATCCTGTGAGGCAGCCTCTCTATGAGTTTGAAGATTGCCTAGGGGGTGGTAAGCCCAAGGCTCTGGCAGCAGCGGACCGGCTCCAGAAAATATTCCCCGGTGTG___AATGCCAGAGGATTCAACATGAGCATACCTATGCCTGGGCATCCAGTGAACTTCTCCAGTGTCACTCTGGAGCAAGCCCGCAGAGATGTGGAGCAACTGGAGCAGCTCATCGAAAGCCATGATGTCGTCTTCCTATTGATGGACACCAGGGAGAGCCGGTGGCTTCCTGCCGTCATTGCTGCAAGCAAGAGAAAG___CTGGTCATCAATGCTGCTTTGGGATTTGACACATTTGTTGTCATGAGACATGGTCTGAAGAAACCAAAGCAGCAAGGAGCTGGGGACTTGTGTCCAAACCACCCTGTGGCATCTGCTGACCTCCTGGGCTCATCGCTTTTTGCCAACATCCCTGGTTACAAGCTTGGCTGCTACTTCTGCAATGATGTGGTGGCCCCAGGAGAT___TCAACCAGAGACCGGACCTTGGACCAGCAGTGCACTGTGAGTCGTCCAGGACTGGCCGTGATTGCAGGAGCCCTGGCCGTGGAATTGATGGTATCTGTTTTGCAGCATCCAGAAGG___GGG)CTATGCCATTGCCAGCAGCAGTGACGATCGGATGAATGAGCCTCCAACCTCTCTTGGGCTTGTGCCTCACCAG___ATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAA|AGCAAGTCACCTTGGAAGATAACTTTTTTGTTCAGAGAAGAATCACTGGAATGGTCCTTTTAAG___GCCCCATCTTCATCTCCTAATGGCATCACATTGAGGCTTGGAGCTTCAACATTTGAATTTTGGGATGACACAATTCAGTGCATAGCAACCAGGAATTGAGCAG...CAAGAAGACCAGAGGCTACCACTGATGCTGAATGACCATCTCATAAACCACTCATGTCATTCTGAGGGAAGCAGGCCCATGTCCTTACTCCCATCTCTGGAGCAGTAGCTTAGAGATTTGCTAAGGGAGTAAGGCAGGCATACAAATTAT MAAATGDPGLSKLQFAPFSSALDVGFWHELTQKKLNEYRLDEAPKDIKGYYYNGDSAGLPARLTLEFSAFDMSAPTPARCCPAIGTLYNTNTLESFKTADKKLLLEQAANEIWESIKSGTALENPVLLNKFLLLTFADLKKYHFYYWFCYPALCLPESLPLIQGPVGLDQRFSLKQIEALECAYDNLCQTEGVTALPYFLIKYDENMVLVSLLKHYSDFFQGQRTKITIGVYDPCNLAQYPGWPLRNFLVLAAHRWSSSFQSVEVVCFRDRTMQGARDVAHSIIFEVKLPEMAFSPDCPKAVGWEKNQKGGMGPRMVNLSECMDPKRLAESSVDLNLKLMCWRLVPTLDLDKVVSVKCLLLGAGTLGCNVARTLMGWGVRHITFVDNAKISYSNPVRQPLYEFEDCLGGGKPKALAAADRLQKIFPGVNARGFNMSIPMPGHPVNFSSVTLEQARRDVEQLEQLIESHDVVFLLMDTRESRWLPAVIAASKRKLVINAALGFDTFVVMRHGLKKPKQQGAGDLCPNHPVASADLLGSSLFANIPGYKLGCYFCNDVVAPGDSTRDRTLDQQCTVSRPGLAVIAGALAVELMVSVLQHPEGGYAIASSSDDRMNEPPTSLGLVPHQIRGFLSRFDNVLPVSLAFDKCTACSSK|skspwkitflfreeslewsf* 01BR020 ENSG00000144559.10 ENSG00000234191.1(163155),ENSG00000263730.1(63237) -/- ./+ chr3:11807833 chrX:39597979 CDS/splice-site intergenic translocation 4 1 0 100 10 high out-of-frame . Mitochondrial_matrix_Mmp37(100%)| . . ENSG00000144559.10 . ENST00000455809.5 . upstream upstream . ^(CCCCACACTCAGCCTTGTGTCCCTCGATCCAGTCTCCGACTTCCATTTCCCACCCTAAACCGCCTACCCGGTGTCTGTTCCCCGCCCGGTTGTCCTCGCCCTGCTGCGCTGAGTGTCCCCTGTTAGCCTCGACCCCATGGCGCTGCAGACGCTGCAGAGCTCGTGGGTGACCTTCCGCAAGATCCTGTCTCACTTCCCCGAGGAGCTGAGTCTGGCTTTCGTCTACGGCTCCGGGGTGTACCGCCAGGCAGGGCCGAGTTCAGACCAGAAG___AATGCTATGCTGGACTTTGTGTTCACAGTAGATGACCCTGTCGCATGGCATTCAAAGAACCTGAAGAAAAATTGGAGTCACTACTCTTTCCTAAAAGTTTTAGGGCCCAAGATTATCACGTCCATCCAGAATAACTATGGCGCTGGAGTTTACTACAATTCATTGATCATGTGTAATGGTAGG___CTTATCAAATATGGAGTTATTAGCACTAACGTTCTGATTGAAGATCTCCTCAACTGGAATAACTTATACATTGCTGGACGACTCCAAAAACCG___GTGAAAATTATCTCAGTGAACGAGGATGTCACTCTTAGATCAGCCCTCGATAGAAATCTGAAGAGTGCTGTGACCGCTGCTTTCCTCATGCTCCCCGAAAGCTTTTCTGAAGAAGACCTCTTCATAGAGATTGCCGGTCTCTCCTATTCAG___GTGACTTTCGGATGGTGGTTGGAGAAGATAAAACAAAAGTGTTGAATATTGTGAAGCCCAATATAGCCCACTTTCGAGAGCTCTATGGCAGCATACTACAGGAAAATCCTCAAGTGGTGTATAAAAGCCAGCAAGGCTGGCTGGAG___ATAGATAAAAGCCCAGAAGGACAGTTCA)CTCAGCTGATGACATTGCCCAAAACCTTACAGCAACAGATAAATCATATTATGGACCCTCCTGGAAAAAACAGAGATGTGGAAGAAACTTTATTCCAAGTGGCTCATGATCCCGACTGTGGAGATGTGGTGCGACTAG___GGCTTTCAGCAATCGTGAGACCGTCTAGTATAAGACAGAGCACGAAAGGCATTTTTACTGCTG|GCACCAGAGAAACGGATTGTCATCTCCAGAAGCCAGCTGGTGACAGCATCAGCTCCTACATCAACATGTGGCACCTGTTTATGCCTTACCTGGTATCAGTCAGGCACTGCCAGGCAACAGTCTTCACCCCAGGAGG MALQTLQSSWVTFRKILSHFPEELSLAFVYGSGVYRQAGPSSDQKNAMLDFVFTVDDPVAWHSKNLKKNWSHYSFLKVLGPKIITSIQNNYGAGVYYNSLIMCNGRLIKYGVISTNVLIEDLLNWNNLYIAGRLQKPVKIISVNEDVTLRSALDRNLKSAVTAAFLMLPESFSEEDLFIEIAGLSYSGDFRMVVGEDKTKVLNIVKPNIAHFRELYGSILQENPQVVYKSQQGWLEIDKSPEGQFTQLMTLPKTLQQQINHIMDPPGKNRDVEETLFQVAHDPDCGDVVRLGLSAIVRPSSIRQSTKGIFTA|gtretdchlqkpagdsissyinmwhlfmpylvsvrhcqatvftpg 01BR020 ENSG00000151779.13 ENSG00000223536.6(51239),ENSG00000224604.1(33014) -/- ./- chr2:15366580 chr2:16820806 CDS/splice-site intergenic duplication 3 1 0 20 1 high out-of-frame . Neuroblastoma-amplified_sequence__N_terminal(100%),Secretory_pathway_protein_Sec39(100%)| . . ENSG00000151779.13 . ENST00000281513.10 . upstream downstream . ^(ACTCCTCCGCTGCCTGAGTCCTCGGCGAACATGGCGGCCCCCGAGTCAGGGCCGGCTTTGAGTCCAGGCACTGCAGAGGGTGAGGAGGAGACGATTCTCTATGACTTGTTGGTCAACACCGAGTGGCCACCGGAGACTGAAGTACAG___CCTAGAGGCAACCAAAAACATGGTGCATCCTTTATCATCACGAAAGCAATTCGAG___ATCGTTTATTATTTTTACGCCAATACATCTGGTACAG___CCCGGCACCTTTTTTGCTCCCTGATGGACTGGTTCGCTTGGTTAATAAACAGATAAACTGGCATTTGGTACTTGCAAG___CAATGGAAAGCTTTTGGCTGCTGTTCAAGATCAGTGTGTGGAAATCAG___GTCTGCAAAAGATGATTTTACATCCATTATTGGGAAATGTCAAG___TTCCGAAAGACCCGAAACCCCAGTGGAGACGGGTAGCATGGAGTTACGATTGTACCCTACTGGCCTATGCCGAAAGCACAGGAACTGTGAGGGTGTTTGATCTCATGGGAAGTGAACTCTTTGTCATTTCCCCG___GCATCTAGTTTTATAGGTGACTTAAGCTATGCCATTGCTGGGTTGATATTTTTAGAATATAAAGCAAGTGCACAGTGGTCTGCAGAACTCCTGGTCATCAATTACCGAGGAGAACTTAGAAGTTACCTTGTAAG___TGTTGGAACAAATCAGAGCTACCAAGAAAGTCACTGTTTCAGCTTCAGTAGTCATTATCCTCATGGAATCAACACAGCTATTTACCACCCTGGTCACAG___ACTTTTACTTGTTGGTGGATGTGAAACTGCTGAAGTAGGCATGTCAAAAGCTTCTAGCTGTGGCCTTTCTGCCTGGAGAGTTCTTTCAGGATCACCGTATTATAAGCAGGTTACTAATGGTGGAGACGGGGTTACTGCA___GTACCGAAGACACTGGGATTATTAAGGATGTTAAGTGTCAAGTTTTACAGTCGCCAGGGACAAGAACAG___GATGGAATTTTTAAGATGAGCCTTTCTCCAGATGGGATGCTCCTGGCAGCCATTCACTTCTCAGGGAAACTGAGCATCTGGGCGATTCCATCTCTGAAGCAACAAGGGGAATGGGGTCAAAATGAGCAG___CCAGGCTATGATGACCTTAATCCTGATTGGAGGCTCTCTACTGAGAAGAGAAAAAAAATCAAAG___ATAAAGAGTCCTTTTACCCACTGATAGATGTCAATTGGTGGGCAGACAGTGCAGTGACTTTAGCTCGATGCTCTGGTGCTTTAACTGTTTCATCTGTGAAAACTTTGAAGAATTTACTGGGAAAATCCTGTGAATGGTTTGAACCATCACCTCAAGTCACTGCTACCCATGATGGGGGATTTTTAAGTTTGGAG___TGTGAGATTAAACTTGCCCCCAAACGATCTCGTTTGGAGACTAGAGCTGGAGAAGAAGATGAAGGAGAAGAGGATTCTGATTCTGATTATGAAATATCTGCCAAGGCTCGCTACTTTGGTTATATAAAACAGGGCCTTTACTTGGTGACTGAAATGGAGCGATTTGCACCACCACGGAAACGCCCACGAACCATTACTAAAAACTACCGCCTTGTGAGTTTGCGCTCCACGACACCAGAGGAACTTTATCAGAGGAAG___ATTGAAAGTGAAGAGTATGAGGAAGCCTTGTCCTTGGCTCATACCTACGGCCTGGATACTGACCTTGTATATCAGAGGCAGTGGAGGAAGTCAGCGGTCAACGTTGCTTCAATTCAGAATTATTTG___AGTAAAATAAAGAAGCGATCCTGGGTTCTCCATGAGTGTTTGGAAAGAGTTCCTGAAAATGTGGATGCTGCAAAAGAACTGCTTCAGTATGGATTAAAAGGCACAGACCTGGAGGCTCTTTTAGCAATAGGGAAAGGAGCAGATGATGGCAG___ATTTACATTACCTGGTGAAATAGACATTGACAGTATCTCCTATGAAGAGCTTTCACCACCTGATGAAGAGCCTGCCAAGAATAAAAAGGAAAAGGAGCTCAAGAAGAGACAAGAACTACTGAAATTAGTGAACTTTTCCAA___GTTGACACTGGAACAAAAGGAACTTTGCCGTTGTAGACGGAAGTTATTAACCTACTTAGATCGACTTGCAACATATGAG___GAAATCCTAGGAGTGCCTCATGCATCTGAACAGAGATATGATGCTGAATTCTTTAAGAAATTCAGAAATCAGAATATTGTTCTCTCAGCAAGAACTTATGCTCAG___GAAAGTAATGTACAAGCCCTGGAAATTCTGTTTACTTACCATGGTTCCGACCTGCTTCCTCATCGCCTTGCAATTCTGTCCAACTTTCCAGAGACCACTTCTCCACATGAATATTCTGTTTTGCTGCCCGAAGCTTG___TTTTAACGGTGACTCCCTGATGATCATTCCTTGGCATGAACATAAACACCGAGCTAAAGATTGGTGCGAGGAGTTGGCTTGCAG___AATGGTTGTTGAGCCGAATCTCCAAGATGAAAGTGAATTCTTGTATGCTGCACAGCCTGAGTTACTAAGGTTCAGGATGACCCAGCTTACGGTGGAGAAGGTTATGGACTGGTATCAGACCAGAGCAGAGGAAATAGAGCATTATGCTCGGCAG___GTGGACTGTGCATTGTCACTTATTCGACTTGGGATGGAGCGGAATATTCCTGGTTTGCTGGTTCTCTGTGACAATTTGGTTACTCTGGAAACATTGGTTTATGAAGCCAGGTGTGATGTAACTCTAACCCTGAAAGAACTCCAGCAGATGAAAGACATTGAAAAACTAAGATTACTGATGAATAGT___TGTTCTGAGGATAAATATGTGACAAGTGCCTACCAGTGGATGGTTCCCTTTCTTCATCGTTGTGAGAAACAGTCGCCTGGTGTGGCTAATGAGCTATTAAAAGAATATTTAGTAACTTTAGCTAAAGGGGACTTAAAATTTCCCCTGAAGATATTTCAGCATTCCAAACCAGAT___CTGCAGCAAAAAATTATTCCTGATCAGGACCAACTGATGGCAATAGCACTAGAGTGCATCTATACCTGTGAACGAAATGATCAACTCTGTCTTTGCTATGACCTACTAGAATGTCTGCCAGAAAGAGGATATGG___TGATAAGACAGAGGCAACCACAAAGCTTCATGACATGGTAGACCAACTGGAACAAATTCTCAG___TGTGTCAGAGCTTTTGGAAAAACATGGACTCGAGAAACCAATTTCATTTGTTAAAAACACTCAATCTAGCTCAGAAGAGGCACGCAAGCTGATGGTTAGATTGACGAGGCACACTGGCCGGAA___GCAGCCTCCTGTCAGTGAGTCTCATTGGAGAACGTTGCTGCAAGACATGTTAACTATGCAGCAGAATGTATACACATGTCTAGATTCTGATGCCTGCTATGAG___ATATTTACAGAAAGCCTTCTGTGCTCTAGTCGCCTTGAAAACATCCACCTGGCTGGACAGATGATGCACTGCAGTGCTTGTTCAGAAAATCCTCCAGCTGGTATAGCCCATAAAGGGAAACCCCACTACAGGGTCAGCTACGAAAAGAGTATTGACTTGGTTTTGGCTGCCAGCAGAGAGTACTTCAATTCTTCTACCAACCTCACTGATAGCTGCATGGATCTAGCCAG___GTGCTGCTTACAACTGATAACAGACAGACCCCCTGCCATTCAAGAGGAGCTAGATCTTATCCAAGCCGTTGGAT)GTCTTGAAGAATTTGGGGTAAAGATCCTGCCTTTGCAAG___TGCGATTGTGCCCTGATCGGATCAGTCTCATCAAGGAGTGTATTTCCCAGTCCCCCACATGCTATAAACAATCCACCAAGCTTCTGGGCCTTGCTGAGCTGCTGAGGGTTGCAG|CTGATATGAAGTTCCTTGTGATAGAAGAGACGTATATGTTGCTATTGGAATTTTAGGAAAAAGACAAACTGTAAAATTGGGAAGAACAGTGTCGTGGAATGACC MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVA|admkflvieetymlllef* 01BR020 ENSG00000144554.10 ENSG00000168137.18 +/+ +/- chr3:10098815 chr3:9480635 CDS/splice-site 3'UTR inversion/3'-3' 1 3 0 169 24 high out-of-frame . . . . ENSG00000144554.10 ENSG00000168137.18 ENST00000383807.5 . downstream downstream mismatches(1) ^(GGCCTGGCGGGAAAGTCGAAAACTACGGGCGGCGACGGCTTCTCG___GAAGTAATTTAAGTGCACAAGACATTGGTCAAAATGGTTTCCAAAAGAAGACTGTCAAAATCTGAGGATAAAGAGAGCCTGACAGAAGATGCCTCCA___AAACCAGGAAGCAACCACTTTCCAAAAAGACAAAGAAATCTCATATTGCTAATGAAGTTGAAGAAAATGACAGCATCTTTGTAAAGCTTCTTAAGATATCAGGAATTATTCTTAAAACGGGAGAGAGTCAGAATCAACTAG___CTGTGGATCAAATAGCTTTCCAAAAGAAGCTCTTTCAGACCCTGAGGAGACACCCTTCCTATCCCAAA___ATAATAGAAGAATTTGTTAGTGGCCTGGAGTCTTACATTGAGGATGAAGACAGTTTCAGGAACTGCCTTTTGTCTTGTGAGCGTCTGCAGGATGAGGAAGCCAG___TATGGGTGCATCTTATTCTAAGAGTCTCATCAAACTGCTTCTGGGGATTGACATACTGCAG___CCTGCCATTATCAAAACCTTATTTGAGAAGTTGCCAGAATATTTTTTTGAAAA___CAAGAACAGTGATGAAATCAACATACCTCGACTCATTGTCAGTCAACTAAAATGGCTTGACAGAGTTGTGGATGGCAAG___GACCTCACCACCAAGATCATGCAGCTGATCAGTATTGCTCCAGAGAACCTGCAGCATGACATCATCACCAGCCTACCTGAGATCCTAGGGGATTCCCAGCACGCTGATGTGGGGAAAGAACTCAG___TGACCTACTGATAGAGAATACTTCACTCACTGTCCCAATCCTGGATGTCCTTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAG___GTTCGCCAGTTGGTGATGGATAAGTTGTCGTCTATTAGATTGGAGGATTTACCTGTGATAATAAAGTTCATTCTTCATTCCGTAACAGCCATGGATACACTTGAG___GTAATTTCTGAGCTTCGGGAGAAGTTGGATCTGCAGCATTGTGTTTTGCCATCACGGTTACAGGCTTCCCAAGTAAAGTTGAAAAGTAAAGGACGAGCAAG___TTCCTCAGGAAATCAAGAAAGCAGCGGTCAGAGCTGTATTATTCTCCTCTTTGATGTAATAAAGTCAGCTATTAGATATGAGAAAACCATTTCAGAAGCCTGGATTAAG___GCAATTGAAAACACTGCCTCAGTATCTGAACACAAG___GTGTTTGACCTGGTGATGCTTTTCATCATCTATAGCACCAATACTCAGACAAAGAAGTACATTGACAGGGTGCTAAGAAATAAGATTCGATCAGGCTGCATTCAAGAACAGCTGCTCCAGAGTACATTCTCTGTTCATTACTTA___GTTCTTAAGGATATGTGTTCATCCATTCTGTCGCTGGCTCAGAGTTTGCTTCACTCTCTAGACCAGAGTATAATTTCATTTGGCAGTCTCCTATACAAATATGCATTTAAGTTTTTTGACACGTACTGCCAGCAG___GAAGTGGTTGGTGCCTTAGTGACCCATATCTGCAGTGGGAATGAAGCTGAAGTTGATACTGCCTTAGATGTCCTTCTAGAGTTGGTAGTGTTAAACCCATCTGCTATGATGATGAATGCTGTCTTTGTAAAG___GGCATTTTAGATTATCTGGATAACATATCCCCTCAGCAAATACGAAAACTCTTCTATGTTCTCAGCACACTGGCATTTAGCAAACAGAATGAAGCCAGCAGCCACATCCAG___GATGACATGCACTTGGTGATAAGAAAGCAGCTCTCTAGCACCGTATTCAAGTACAAGCTCATTGGGATTATTGGTGCTGTGACCATGGCTGGCATCATGGCGGCAGACAG___AAGTGAATCACCTAGTTTGACCCAAGAGAGAGCCAACCTGAGCGATGAGCAGTGCACACAG___GTGACCTCCTTGTTGCAGTTGGTTCATTCCTGCAGTGAGCAGTCTCCTCAGGCCTCTGCACTTTACTATGATGAATTTGCCAACCTGATCCAACATGAAAAGCTGGATCCAAAAGCCCTG___GAATGGGTTGGGCATACCATCTGTAATGATTTCCAGGATGCCTTCGTAGTGGACTCCTGTGTTGTTCCGGAAGG___TGACTTTCCATTTCCTGTGAAAGCACTGTACGGACTGGAAGAATACGACACTCAGGATGGGATTGCCATAAACCTCCTGCCGCTGCTGTTTTCTCAGGACTTTGCAAAAGATGGGGGTCCGGTGACCTCACAGGAATCAGGCCAAAA___ATTGGTGTCTCCGCTGTGCCTGGCTCCGTATTTCCGGTTACTGAGACTTTGTGTGGAGAGACAGCATAACGGAAACTTGGAGGAGATTGATGGTCTACTAG___ATTGTCCTATATTCCTAACTGACCTGGAGCCTGGAGAGAAGTTGGAGTCCATGTCTGCTAAAGAGCGTTCATTCATGTGTTCTCTCATATTTCTTACTCTCAACTGGTTCCGAGAG___ATTGTAAATGCCTTCTGCCAGGAAACATCACCTGAGATGAAGGGGAAGGTGCTCACTCGGTTAAAGCACATTGTAGAATTGCAAATAATCCTGGAAAAGTACTTGGCAG___TCACCCCAGACTATGTCCCTCCTCTTGGAAACTTTGATGTGGAAACTTTAGATATAACACCTCATACTGTTACTGCTATTTCAGCAAAAATCAGAAAGAAAGGAAAAATAG___AAAGGAAACAAAAAACAGATGGCAGCAAGACATCCTCCTCTGACACACTTTCAGAAGAGAAAAATTCAGAATGTGACCCTACGCCATCTCATAGAGGCCAGCTAAACAAG___GAGTTCACAGGGAAGGAAGAAAAGACATCATTGTTACTACATAATTCCCATGCTTTTTTCCGAGAGCTGGACATTGAGGTCTTCTCTATTCTACATTGTGGACTTGTGACGAAGTTCATCTTAGATACTGAAATGCACACTGAA___GCTACAGAAGTTGTGCAACTTGGGCCCCCTGAGCTGCTTTTCTTGCTGGAAGATCTCTCCCAGAAGCTGGAGAGTATGCTGACACCTCCTATTGCCAGGAGAGTCCCCTTTCTCAAG___AACAAAGGAAGCCGGAATATTGGATTCTCACATCTCCAACAGAGATCTGCCCAAGAAATTGTTCATTGTGTTTTTCAACTGCTGACCCCAATGTGTAACCACCTGGAGAACATTCACAACTATTTTCAG___TGTTTAGCTGCTGAGAATCACGGTGTAGTTGATGGACCAGGAGTGAAAGTTCAGGAGTACCACATAATGTCTTCCTGCTATCAGAGGCTGCTGCAGATTTTTCATGGGCTTTTTGCTTG___GAGTGGATTTTCTCAACCTGAAAATCAGAATTTACTGTATTCAGCCCTCCATGTCCTTAGTAGCCGACTGAAACAGGGAGAACACAGCCAGCCTTTGGAGGAACTACTCAG___CCAGAGCGTCCATTACTTGCAGAATTTCCATCAAAGCATTCCCAGTTTCCAGTGTGCTCTTTATCTCATCAGACTTTTGATGGTTATTTTGGAGAAATCAACAGCTTCTGCTCAGAACAAAGAAAAAATTG___CTTCCCTTGCCAGACAATTCCTCTGTCGGGTGTGGCCAAGTGGGGATAAAGAGAAGAGCAACATCTCTAATGACCAGCTCCATGCTCTGCTCTG___TATCTACCTGGAGCACACAGAGAGCATTCTGAAGGCCATAGAGGAGATTGCTGGTGTTGGTGTCCCAGAACTGATCAACTCTCCTAAAGATGCATCTTCCTCCACATTCCCTACACTGACCAG___GCATACTTTTGTTGTTTTCTTCCGTGTGATGATGGCTGAACTAGAGAAGACGGTGAAAAAAATTGAGCCTGGCACAGCAGCAGACTCGCAGCAG___ATTCATGAAGAGAAACTCCTCTACTGGAACATGGCTGTTCGAGACTTCAGTATCCTCATCAACTTGATAAAG___GTATTTGATAGTCATCCTGTTCTGCATGTATGTTTGAAG___TATGGGCGTCTCTTTGTGGAAGCATTTCTGAAGCAATGTATGCCGCTCCTAGACTTCAGTTTTAGAAAACACCGG___GAAGATGTTCTGAGCTTACTGGAAACCTTCCAGTTGGACACAAGGCTGCTTCATCACCTGTGTGGGCATTCCAAG___ATTCACCAGGACACGAGACTCACCCAACATGTGCCTCTGCTCAAAAAGACCCTGGAACTTTTAGTTTGCAGAGTCAAA)GCTATGCgCACTtTCAACAATTGTAGAGAGGCTTTCTGGCTGGGCAATCTAAAAAACCGGGACTTGCAG___GGTGAAGAGATTAAGTCCCAAAATTCCCAGGAGAGCACAGCAGATGAGAGTGAGGATGACATGTCATCCCAGGCCTCCAAGAGCAAAGCCACTGAG|TGTGGCCCCGGGAAGCCAAGAAGATTGGACACCTCTGATTTACACCATATCAAAAGCAAAGTCCCTAGCAACACA___ACCCAATCCTCTGGCACCTTGTACCCCCCGTTCCTCAGCAATATGCTCGGC...___GAAACCAAAGGCAGTAAAATGTCTGTCTTTGATCACCGTATTCATCTTCTGGCATAATTTATTACCTGAGGACAAGCAGATGATGACTTATTTCCAAGGCTGCTGAAACTATATGCAAAGACAGCATCTCAATGGCA MVSKRRLSKSEDKESLTEDASKTRKQPLSKKTKKSHIANEVEENDSIFVKLLKISGIILKTGESQNQLAVDQIAFQKKLFQTLRRHPSYPKIIEEFVSGLESYIEDEDSFRNCLLSCERLQDEEASMGASYSKSLIKLLLGIDILQPAIIKTLFEKLPEYFFENKNSDEINIPRLIVSQLKWLDRVVDGKDLTTKIMQLISIAPENLQHDIITSLPEILGDSQHADVGKELSDLLIENTSLTVPILDVLSSLRLDPNFLLKVRQLVMDKLSSIRLEDLPVIIKFILHSVTAMDTLEVISELREKLDLQHCVLPSRLQASQVKLKSKGRASSSGNQESSGQSCIILLFDVIKSAIRYEKTISEAWIKAIENTASVSEHKVFDLVMLFIIYSTNTQTKKYIDRVLRNKIRSGCIQEQLLQSTFSVHYLVLKDMCSSILSLAQSLLHSLDQSIISFGSLLYKYAFKFFDTYCQQEVVGALVTHICSGNEAEVDTALDVLLELVVLNPSAMMMNAVFVKGILDYLDNISPQQIRKLFYVLSTLAFSKQNEASSHIQDDMHLVIRKQLSSTVFKYKLIGIIGAVTMAGIMAADRSESPSLTQERANLSDEQCTQVTSLLQLVHSCSEQSPQASALYYDEFANLIQHEKLDPKALEWVGHTICNDFQDAFVVDSCVVPEGDFPFPVKALYGLEEYDTQDGIAINLLPLLFSQDFAKDGGPVTSQESGQKLVSPLCLAPYFRLLRLCVERQHNGNLEEIDGLLDCPIFLTDLEPGEKLESMSAKERSFMCSLIFLTLNWFREIVNAFCQETSPEMKGKVLTRLKHIVELQIILEKYLAVTPDYVPPLGNFDVETLDITPHTVTAISAKIRKKGKIERKQKTDGSKTSSSDTLSEEKNSECDPTPSHRGQLNKEFTGKEEKTSLLLHNSHAFFRELDIEVFSILHCGLVTKFILDTEMHTEATEVVQLGPPELLFLLEDLSQKLESMLTPPIARRVPFLKNKGSRNIGFSHLQQRSAQEIVHCVFQLLTPMCNHLENIHNYFQCLAAENHGVVDGPGVKVQEYHIMSSCYQRLLQIFHGLFAWSGFSQPENQNLLYSALHVLSSRLKQGEHSQPLEELLSQSVHYLQNFHQSIPSFQCALYLIRLLMVILEKSTASAQNKEKIASLARQFLCRVWPSGDKEKSNISNDQLHALLCIYLEHTESILKAIEEIAGVGVPELINSPKDASSSTFPTLTRHTFVVFFRVMMAELEKTVKKIEPGTAADSQQIHEEKLLYWNMAVRDFSILINLIKVFDSHPVLHVCLKYGRLFVEAFLKQCMPLLDFSFRKHREDVLSLLETFQLDTRLLHHLCGHSKIHQDTRLTQHVPLLKKTLELLVCRVKAMrTfNNCREAFWLGNLKNRDLQGEEIKSQNSQESTADESEDDMSSQASKSKATE|cgpgkprrldtsdlhhikskvpsnttqssgtlyppflsnml 01BR020 ENSG00000088930.8 ENSG00000071909.18 +/+ +/- chr20:21340852 chr2:170523905 CDS/splice-site intron translocation/5'-5' 2 1 0 111 19 high out-of-frame . XRN_5'-3'_exonuclease_N-terminus(100%)| . . ENSG00000088930.8 ENSG00000071909.18 ENST00000377191.5 . downstream downstream . ^(GCCGCTGCTCCCGTCTCTTTGGTTACGCTCGTCAGCCGGTCGGCCGCCGCCTCCAGCCGTGTGCCGCTATGGGAGTCCCGGCGTTCTTCCGCTGGCTCAGCCGCAAGTACCCGTCCATCATAGTCAACTGCGTGGAAGAGAAG___CCAAAAGAATGCAATGGTGTAAAGATTCCAGTTGATGCCAGTAAACCTAATCCAAATGATGTGGAGTTTGATAATCTGTATTTGGATATGAATGGAATCATCCATCCCTGTACTCATCCTGAAGACAA___ACCAGCACCAAAAAATGAAGATGAAATGATGGTTGCAATTTTTGAGTACATTGACAGACTTTTCAGTATTGTAAGACCAAGAAGACTTCTCTACATGGCAATAGATGGAGTG___GCACCACGTGCTAAAATGAACCAGCAGCGTTCAAGGAGGTTCAGGGCATCAAAAGAAGGAATGGAAGCAGCAGTCGAGAAGCAGCGAGTCAGGGAAGAAATATTGGCAAAAG___GTGGCTTTCTTCCTCCAGAAGAAATAAAAGAAAGATTTGACAGCAACTGTATTACACCA___GGAACTGAATTCATGGACAATCTTGCTAAATGCCTTCGCTATTACATAGCTGATCGTTTAAATAATGACCCTGGGTGGAAAAATTTGACA___GTTATTTTATCTGATGCTAGTGCTCCTGGTGAAGGAGAACATAAAATCATGGATTACATTAGAAGGCAAAGAG___CCCAGCCTAACCATGACCCAAATACTCATCATTGTTTATGTGGAGCAGATG___CTGATCTCATTATGCTTGGCCTTGCCACACATGAACCGAACTTTACCATTATTAGAGAAGAATTCAAACCAAACAAGCCCAAACCATGTGGTCTTTGTAATCAGTTTGGACATGAGGTCAAAGATTGTGAAGGTTTGCCAAGAGAAAAGAAGGGAAAG___CATGATGAACTTGCCGATAGTCTTCCTTGTGCAGAAGGAGAGTTTATCTTCCTTCGGCTTAATGTTCTTCGTGAG___TATTTGGAAAGAGAACTCACAATGGCCAGCCTACCATTCACATTTGATGTTGAGAGGAGCATTGATGACTGGGTTTTCATGTGCTTCTTTGTGGGAAATGACTTCCTCCCTCATTTGCCATCGTTAGAGATTAG___GGAAAATGCAATTGACCGTTTGGTTAACATATACAAAAATGTGGTACACAAAACTGGG___GGTTACCTTACAGAAAGTGGTTATGTCAATCTGCAAAGAGTACAGATGATCATGTTAGCAGTTGGTGAAGTTGAGGATAGCATTTTTAAAAAGAGAAAGGATGATGAG___GACAGTTTT)AGAAGACGACAGAAAGAAAAAAGAAAGAGAATGAAG___AGAGATCAACCAGCTTTCACTCCTAGTGGAATATTAACTCCTCATGCCTTGGGTTCAAGAAATTCACCAGGTTCTCAAGTAGCCAGTAATCCGAGACAAGCAGCCTATGAAATGAGGATGCAGAATAACTCT|CTCTCCTGCAGAACCACCACTGCAAATTCTGGCCAATCATATGCAAGAAAAGTCTCCTGGGTGACTTCTGGGAAAGATTTCCCTCCTAGCAAATGGAGAGAGACTCCTGAGAAGAAGCCCCTTTCCATCCGCTTCTGTCTTCCTGCTCCAGACATTGGCATGTAAAGAAGTGATGTTTAGTGTTGCTTTGGCCACCTCGTGGCCATAAGcGGGG MGVPAFFRWLSRKYPSIIVNCVEEKPKECNGVKIPVDASKPNPNDVEFDNLYLDMNGIIHPCTHPEDKPAPKNEDEMMVAIFEYIDRLFSIVRPRRLLYMAIDGVAPRAKMNQQRSRRFRASKEGMEAAVEKQRVREEILAKGGFLPPEEIKERFDSNCITPGTEFMDNLAKCLRYYIADRLNNDPGWKNLTVILSDASAPGEGEHKIMDYIRRQRAQPNHDPNTHHCLCGADADLIMLGLATHEPNFTIIREEFKPNKPKPCGLCNQFGHEVKDCEGLPREKKGKHDELADSLPCAEGEFIFLRLNVLREYLERELTMASLPFTFDVERSIDDWVFMCFFVGNDFLPHLPSLEIRENAIDRLVNIYKNVVHKTGGYLTESGYVNLQRVQMIMLAVGEVEDSIFKKRKDDEDSFRRRQKEKRKRMKRDQPAFTPSGILTPHALGSRNSPGSQVASNPRQAAYEMRMQNNS|lscrtttansgqsyarkvswvtsgkdfppskwretpekkplsirfclpapdigm* 01BR020 ENSG00000108389.9 ENSG00000176160.11 -/- -/+ chr17:58494932 chr17:58485315 CDS/splice-site intron inversion/5'-5' 1 2 0 152 12 high out-of-frame . Myotubularin-like_phosphatase_domain(100%)| . . ENSG00000108389.9 ENSG00000176160.11 ENST00000323456.9 . upstream upstream . ^(GGTGGGGTCGGGACTGCGCGGCCTCAGCAGCTGCGGGAGACGGAAGTGGCAAGAGCGCGGCCTCAGAGGGTCGGGCGGACGCCGCCTGG___TGAGAAGCAGGCAGCCAGTACCCTTGCCACGGTAGAATG___GGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAG___GTCCCCTTCACAGTGCTGCAGGGTGAGGGAGTAGAGTTCCTGGGCCGGGCAGCCGATGCCCTCATTGCCATCTCTAACTACCGGCTGCATATCAAATTCAAGGACTCTGTCATCAAC___GTCCCCCTCCGGATGATTGACAGTGTGGAGAGCCGTGATATGTTCCAGTTGCACATTTCCTGCAAGGACTCCAAAGTGGTGAG___GTGCCACTTCTCCACTTTTAAGCAGTGCCAAGAGTGGCTCTCACGGCTAAGCCGAGCCACAGCAAGACCTGCCAAGCCTGAAGACCTCTTTGCCTTTGCCTACCATGCCTGGTGCCTGGGGCTGACCGAGGAGGACCAGCACACTCACCTATGTCAGCCAG___GTGAGCACATACGTTGTCGACAGGAGGCGGAGCTTGCAAGGATGGGCTTTGACCTGCAGAACGTCTGGAGAGTCTCACACATCAACAGCAACTACAA___ATTGTGCCCCAGTTACCCCCAGAAGCTGCTGGTTCCTGTGTGGATCACTGACAAAGAGCTGGAGAACGTGGCTTCCTTCCGCTCCTGGAAGCGGATTCCCGTGGTTGTGTATAG___ACACTTGCGCAATGGGGCTGCCATCGCCCGCTGCAGCCAGCCAGAGATCAGCTGGTGGGGCTGGCGCAATGCTGATGATGAGTACCTGGTCACGTCCATTGCTAAAGCCTGTGCCCTGGACCCGGGGACAAGGGCCACTGGGGGCTCCCTCAGCACCGGGAATAATGATACCAGCGAGGCGTGTGATGCTGACTTTG___ATTCTTCTCTGACTGCGTGCTCTGGAGTGGAGAGCACAGCAGCTCCTCAAAAGCTGCTGATCCTGGATGCGCGATCCTACACGGCAGCAGTGGCCAACCGGGCCAAGGGTGGAGGCTGTGAATGTGAAG___AGTACTATCCCAACTGTGAGGTCGTGTTCATGGGAATGGCCAACATCCATGCCATCCGGAACAGCTTTCAGTACCTCCGGGCTGTGTGTAGCCAGATGCCGGATCCTAGCAA___CTGGTTGTCGGCACTGGAGAGTACCAAATGGCTGCAGCACTTGTCGGTGATGCTAAAAGCAGCTGTGCTGGTGGCTAATACAGTAGACCGGGAAGGCCGGCCTGTGCTGGTACACTGCTCAGATGGCTGGGACCGCACACCGCAGATCGTAGCCCTGGCCAAAATATTACTGGACCCATATTACAGGACGTTGGAG___GGCTTCCAAGTGTTAGTGGAGTCTGACTGGCTGGATTTTGGGCACAAGTTTGGAGATCGCTGTGGCCACCAAGAGAATGTGGAGGACCAAAACGAACAATGCCCTGTGTTCCTCCAGTGGCTTGATTCTGTTCATCAGTTGCTTAAGCAGTTCCCCTGCCTGTTTGAATTTAATGAAGCATTCCTG___GTAAAACTGGTGCAACACACATACTCCTGCCTCTACGGCACCTTCCTGGCCAACAACCCCTGTGAGCGAGAGAAGCGCAACATCTACAAGCGGACCTGCTCTGTGTGGGCGCTCCTTCGAGCTGGCAATAAAAACTTTCATAACTTCCTCTACACACCCAGCTCAGACATG___GTCCTGCATCCTGTTTGTCATGTCCGGGCCCTGCACCTCTGGACAGCTGTTTATCTGCCAGCATCATCTCCATGCACACTTGGGGAAGAAAACATGGATCTTTACCTTTCCCCAGTGGCCCAGAGCCAGGAGTTCTCTGGCCGCTCTCTGGACAG___ATTACCTAAAACCAGATCCATGGATGATCTTCTTTCTGCCTGTGACACAAGCAGCCCCCTGACTCGTACATCCAGTGACCCTAACCTGAATAACCACTGTCAGGAGGTCAGGGTAGGCCTGGAGCCCTGGCACAGCAATCCTGAGGGATCAGAGACAAGCTTTGTGGACTCTGGGGTAGGAGGGCCTCAGCAAACTGTAGGAGAAGTGGGTCTTCCTCCTCCTCTGCCCAGCAGCCAGAAAGACTACTTGAGCAATAAACCTTTCAAGAGTCACAAAAGCTGTTCTCCAAGTTACAAACTGCTTAATACCGCAGTGCCTCGGGAAATGAAGAGCAACACCTCTGATCCTGAGATCAAAGTCCTAGAAGAGACTAAGGGACCAGCTCCAGACCCTTCTGCCCAGGATGAGCTGGGTAGGACTTTAGATGGCATAGGGGAGCCACCTGAACATTGTCCTGAAACAGAAGCTGTCAGTGCACTCTCCAAGGTCATTTCTAACAAGTGTGATGGAGTTTGTAATTTTCCTGAGTCTTCCCAGAACTCTCCTACAGGTACGCCCCAACAGGCCCAGCCAGACTCCATGCTAGGTGTGCCCTCCAAGTGTGTTCTTGATCACAGCCTCAGCACCGTTTGCAACCCACCGAGTGCTGCCTGCCAAACTCCTCTAGACCCAAGCACTGACTTCCTCAACCAAGATCCCTCAGGGTCTGTGGCAAGTATCTCCCACCAGGAACAACTGAGTTCTGTGCCGGATCTGACCCATGGGGAGGAAGACATTGGTAAAAGAGGAAATAATAGGAATGGGCAGTTATTGGAAAATCCTCGCTTTGGGAAAATGCCATTGGAATTGGTCCGGAAGCCAATTTCTCAGAGCCAGATCAGTGAGTTCTCTTTTCTAGGGTCCAACTGGGACAGCTTCCAAGGGATGGTGACTTCATTCCCAAGTGGGGAGGCCACCCCTCGGCGGCTGCTTTCCTATGGCTGTTGTAGCAAGAGGCCAAACAGTAAGCAGATGCGGGCCACAGGGCCCTGCTTTGGGGGCCAGTGGGCTCAGAGAGAAGGTGTGAAGTCACCTGTCTGTTCTAGTCATTCCAATGGACATTGTACTGGCCCAGGAGGAAAGAACCAGATGTGGTTGTCCAGTCATCCAAAGCAAGTCTCTAGCACAAAGCCCGTTCCACTGAACTGCCCTTCTCCAGTGCCTCCTCTGTATTTGGATGATGATGGACTCCCCTTTCCCACGGATGTGATCCAGCATAGGTTACGGCAAATCGAAGCAGG)GTACAAACAAGAGGTGGAGCAGCTACGTCGACAGGTGCGTGAGCTTCAGATGAGGCTGGACATCCGTCACTGCTGTGCCCCTCCAGCAGAGCCCCCCATGGACTATGAGGATGATTTT|CTGAAGGTGAAGAATGAATGAATGATTACACCCTGTTGGTTTCTTGGTATACTGCTTCATATCATGGACTCTTTAAACAGAGAAATGGAATATTGCCACCCTTGCCTTCCTGGAAGAGGGGGAAGAGCATCAAAAATCAAGTCTAC MGEEGPPSLEYIQAKDLFPPKELVKEEENLQVPFTVLQGEGVEFLGRAADALIAISNYRLHIKFKDSVINVPLRMIDSVESRDMFQLHISCKDSKVVRCHFSTFKQCQEWLSRLSRATARPAKPEDLFAFAYHAWCLGLTEEDQHTHLCQPGEHIRCRQEAELARMGFDLQNVWRVSHINSNYKLCPSYPQKLLVPVWITDKELENVASFRSWKRIPVVVYRHLRNGAAIARCSQPEISWWGWRNADDEYLVTSIAKACALDPGTRATGGSLSTGNNDTSEACDADFDSSLTACSGVESTAAPQKLLILDARSYTAAVANRAKGGGCECEEYYPNCEVVFMGMANIHAIRNSFQYLRAVCSQMPDPSNWLSALESTKWLQHLSVMLKAAVLVANTVDREGRPVLVHCSDGWDRTPQIVALAKILLDPYYRTLEGFQVLVESDWLDFGHKFGDRCGHQENVEDQNEQCPVFLQWLDSVHQLLKQFPCLFEFNEAFLVKLVQHTYSCLYGTFLANNPCEREKRNIYKRTCSVWALLRAGNKNFHNFLYTPSSDMVLHPVCHVRALHLWTAVYLPASSPCTLGEENMDLYLSPVAQSQEFSGRSLDRLPKTRSMDDLLSACDTSSPLTRTSSDPNLNNHCQEVRVGLEPWHSNPEGSETSFVDSGVGGPQQTVGEVGLPPPLPSSQKDYLSNKPFKSHKSCSPSYKLLNTAVPREMKSNTSDPEIKVLEETKGPAPDPSAQDELGRTLDGIGEPPEHCPETEAVSALSKVISNKCDGVCNFPESSQNSPTGTPQQAQPDSMLGVPSKCVLDHSLSTVCNPPSAACQTPLDPSTDFLNQDPSGSVASISHQEQLSSVPDLTHGEEDIGKRGNNRNGQLLENPRFGKMPLELVRKPISQSQISEFSFLGSNWDSFQGMVTSFPSGEATPRRLLSYGCCSKRPNSKQMRATGPCFGGQWAQREGVKSPVCSSHSNGHCTGPGGKNQMWLSSHPKQVSSTKPVPLNCPSPVPPLYLDDDGLPFPTDVIQHRLRQIEAGYKQEVEQLRRQVRELQMRLDIRHCCAPPAEPPMDYEDDF|lkvkne* 01BR020 ENSG00000264343.6 ENSG00000130529.16 -/- +/+ chr1:146189300 chr19:49210209 CDS/splice-site CDS/splice-site translocation 23 0 0 137 161 medium in-frame . |Ion_transport_protein(100%) . . ENSG00000264343.6 ENSG00000130529.16 ENST00000579793.6 ENST00000252826.10 upstream upstream duplicates(1),mismatches(1) ^(GCTGCACACCCGAGAAAGTTTCAGCCAAACTTCGGGCGGCGGCTGAGGCGGCGGCCGAGGAGCGGCGGACTCGGGGCGCGGGGAGTCGAGGCATTTGCGCTGGGCTTCGGAGCGTAGCGCCAGGGCCTGAGCCTTTGAAGCAGGAGGAGGGGAGGAGAGAGTGGGGCTCCTCTATCGGGACCCCCTCCCCATGTGGATCTGCCCAGGCGGCCGCGGCGGCGGCGGCGGAGGAGGCGACCG)AGAAGATgCCCGCCCTGCGCCCCGCTCTGCTGTGGGCGCTGCTGGCGCTCTGGCTGTGCTGCGCGACCCCCGCGCATG___CATTGCAGTGTCGAGATGGCTATGAACCCTGTGTAAATGAAGGAATGTGTGTTACCTACCACAATGGCACAGGATACTGCAA|TTACACATTCGGCAAAGTACAGGGCAACAGCGATCTCTACTGGAAGGCGCAGCGTTACCGCCTCATCCGGGAATTCCACTCTCGGCCCGCGCTGGCCCCGCCCTTTATCGTCATCTCCC(ACTTGCGCCTCCTGCTCAGGCAATTGTGCAGGCGACCCCGGAGCCCCCAGCCGTCCTCCCCGGCCCTCGAGCATTTCC___GGGTTTACCTTTCTAAGGAAGCCGAGCGGAAGCTGCTAACGTGGGAATCGGTGCATAAGGAGAACTTTCTGCTGGCACGCGCTAGGGACAAGCGGGAGAGCGACTCCGAGCGTCTGAAGCGCACGTCCCAGAA___GGTGGACTTGGCACTGAAACAGCTGGGACACATCCGCGAGTACGAACAGCGCCTGAAAGTGCTGGAGCGGGAG___GTCCAGCAGTGTAGCCGCGTCCTGGGGTGGGTGGCCGAGGCCCTGAGCCGCTCTGCCTTGCTGCCCCCAGGTGGGCCGCCACCCCCTGACCTGCCTGGGTCCAAAG___ACTGAGCCCTGCTGGCGGACTTCAAGGAGAAGCCCCCACAGGGGATTTTGCTCCTAGAGTAAGGCTCATCTGGGCCTCGGCCCCCGCACCTGGTGGCCTTGTCCTTGAGGTGAGCCCCATGTCCATCTGGGCCACTGTCAGGACCACCTTTGGGAGTGTCATCCTTACAAACCACAGCATGCCCGGCTCCTCCCAGAACCAGTCCCAGCCTGGGAGGATCAAGGCCTGGATCCCGGGCCGTTATCCATCTGGAGGCTGCAGGGTCCTTGGGGTAACAGGGACCACAGACCCCTCACCACTCACAGATTCCTCACACTGGGGAAATAAAGCCATTTCAGAGGAA)$ MCVTYHNGTGYCn|YTFGKVQGNSDLYWKAQRYRLIREFHSRPALAPPFIVISHLRLLLRQLCRRPRSPQPSSPALEHFRVYLSKEAERKLLTWESVHKENFLLARARDKRESDSERLKRTSQKVDLALKQLGHIREYEQRLKVLEREVQQCSRVLGWVAEALSRSALLPPGGPPPPDLPGSKD* 01BR020 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 9 4 0 602 22 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream duplicates(1),mismatches(1) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGAAGCCGGACT)CTGtGCGaaATGTACTAtAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTACCTCAAGTTTCTTCATCTGTGAAATGGAG MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 01BR020 ENSG00000163235.16 ENSG00000143977.14 -/- -/- chr2:70514859 chr2:70289372 CDS/splice-site CDS/splice-site deletion/read-through 3 7 0 24 766 medium out-of-frame . |LSM_domain_(100%) . . ENSG00000163235.16 ENSG00000143977.14 ENST00000295400.11 ENST00000272348.7 upstream downstream duplicates(1) ^(ACTCGGGCA)CCGCAGGTAGGGCAGGAGGCTGGAGAGCCTGCTGCCCGCCCGCCCGTAAAATGGTCCCCTCGGCTGGACAGCTCGCCCTGTTCGCTCTGG___GTATTGTGTTGGCTGCGTGCCAGGCCTTGGAGAACAGCACGTCCCCGCTGAGTG|ATTTATGGACAAGAAGTTATCAT___TGAAATTAAATGGTGGCAGACATGTCCAAGGAATATTGCGGGGATTTGATCCCTTTATGAACCTTGTGATAGATGAATGTGTGGAGATGGCGACTAGTGGACAACAGAACAATATTGGAATGGTG___GTAATACGAGGAAATAGTATCATCATGTTAGAAGCCTTGGAACGAGTATAAATAATGGCTGTTCAGCAGAGAAACCCATGTCCTCcCTC(CATAGGGCCTGTTTTACTATGATGTAAAAATTAGGTCATGTACATTTTCATATTAGACTTTTTGTTAAATAAACTTTTGTAATAGTCAAAAATGCTTTCTCAGATGTTCTGAATATAGAATATCAGCTCTCATTCCAGTTTTTTCTAACATGAATTTTCCTGGTTGACATTGATTTCAAAGGGTTTTATGCATTAAAGTGAAAGAATCTTATTAAATGTGAAACATGGCAAGGA)$ MVPSAGQLALFALGIVLAACQALENSTSPLS|dlwtrsyh* 01BR020 ENSG00000106462.11 ENSG00000055130.17 -/- +/- chr7:148846470 chr7:148735493 CDS/splice-site intron deletion/read-through/5'-5' 3 6 0 32 20 medium out-of-frame . WD_repeat_binding_protein_EZH2(100%)| . . ENSG00000106462.11 ENSG00000055130.17 ENST00000320356.7 . upstream downstream . ^(GTTTGGCGCTCGGTCCGGTCGCGTCCGACACCCGGTGGGACTCAGAAGGCAGTGGAGCCCCGGCGGCGGCGGCGGCGGCGCGCGGGGGCGACGCGCGGGAACAACGCGAGTCGGCGCGCGGGACGAAG___AATAATCATGGGCCAGACTGGGAAGAAATCTGAGAA)GGGAtCAGTTTGTTGGCGGAAGCGTGTAAAATCAGAGTACATGCGACTGAGACAGCTCAAGAGGTTCAGACGAGCTGATGAAGTAAAG___AGTATGTTTAGTTCCAATCGTCAGAAAATTTTGGAAAGAACGGAAATCTTAAACCAAGAATGGAAACAGCGAAGGATACAGCCTGTGCACATCCTGACTTCTGTGAGCTCATTGCGCGGGACTAGGGAG|GAGAGAATTTTGCAGTGAGCAGGCGAAGCAGGAAGGCTGCCACCTGAGCACTCCCCTGCAGTGCAGCTCCTATGGAAGGGAAGGCGATGGTCAGAGTGTGGACCTGAAAAGAGTGGTGGCGGCAGCCAAGACGGGACTGCTCAACTGGCA MGQTGKKSEKGsVCWRKRVKSEYMRLRQLKRFRRADEVKSMFSSNRQKILERTEILNQEWKQRRIQPVHILTSVSSLRGTRE|erilq* 01BR020 ENSG00000181666.18 ENSG00000120784.16 +/+ -/+ chr19:37324265 chr19:37634656 5'UTR/splice-site 3'UTR deletion/read-through/5'-5' 3 4 0 78 76 medium . . . . . ENSG00000181666.18 ENSG00000120784.16 ENST00000544914.5 . downstream upstream duplicates(1),mismatches(2) ^(GGGTCTGCAGATGGCGTCCGAGTGCACAGTGGCCAGTGTGATTCCGCAGTCTTGGGCTGTTCGGCCAAGCGCCCACCGGACGTGGGACGCTGGAGGGTCAGCAGCGTGGAGTCCTGGCCTTCAGCGTCCGCGGCTGGGAAATCGGCCATCGCCACGGCGGGAACTAGGACTGGCTGCGTCCCGGCCCTTCCCCATCCGTCCACCGGACTCGTGGGCGCCCGCACTGACTGTGATGTAGTTTCCTGACCTCTGACACGTATTGTCTCAAGATTAAAG___)GAATCAGGAGCTTCTTTTGCTGTTCTTCTGTTTTGGATGCATTGGAAG___GTCCAGATTTGGAACAAGTCTCTCTAGAGATTGAACAG___AGCTGCGCCTGGAACCCGCCGCAGtGAGGAGACCTGAAGACCAGAGGAAACACAGCAA|AATGAAGTGGTTCCCTAGCAACCTTCGTGTGTATATACACAGATGGAAGAATATGGAGATAATAATAGGTAAGATCAAAAGCTTTTCCA...___AATGAATTCTCTGATGTTGAATCAGTGATGAATGAAGTCTAAAGGCCTTTCCACATTCCTTACAGTCATAGGGCTTTTCACCAGTATGAATACTTTGATGTTGGGTAAGTTGTGAAAGCAGTC . 01BR020 ENSG00000055130.17 ENSG00000239468.3(31414),ENSG00000286180.1(18338) +/+ ./+ chr7:148759638 chr7:148921927 CDS/splice-site intergenic deletion/read-through 2 5 0 72 10 medium out-of-frame . Cullin_family(100%)| . . ENSG00000055130.17 . ENST00000662716.1 . downstream upstream . ^(AGAAGTGATTTTTAAAACGAAACACGCAGATAAGCTCGAGCTTTCTGGAGCCGATTCCTAAGGCCTTGCAGGTGGTAAGGGGGTCGAGAATTGGCTGAGGTTCCTCGGAAGTCCGCGCCGATTCGGAGGGCCACCTCTGACTTTCTGATCTGGGGTGCAACCCCCAGTCCCTGTCCCGGTCGACAAAG___GTTTGCCTGCAATGAGATTTCATTCTCTACATTTAAAGGACATCCTTTCTGAGCTGCTGTGAATAAATTTGGAATGGTACTGTATATTTTCATCTAATGGAGAACTAGCTGTACTTTGAATAAGGATTGCTGCACTGGACGACTTTAGAACATCCCTCACAATGTCGTCAACCCGGAGCCAGAACCCCCACGGCCTGAAGCAGATTGGCCTGGACCAGATCTGGGACGACCTCAGAGCCGGCATCCAGCAGGTGTACACACGGCAGAGCATGGCCAAGTCCAGATATATGGAGCTCTACAC___TCATGTTTATAACTACTGTACTAGTGTTCACCAGTCAAACCAAGCACGAGGAGCTGGAGTTCCTCCTTCTAAGTCGAAAAAGGGGCAGACACCTGGAGGAGCTCAGTTTGTTGGCCTGGAATTATATAAACGACTTAAGGAATTTTTGAAGAATTACTTGACAAATCTTCTTAAG___GATGGAGAAGATTTGATGGATGAGAGTGTACTGAAATTCTACACTCAACAATGGGAAGATTATCGATTTTCAAGCAAAGTGCTGAATGGAATTTGTGCCTACCTCAATAGACATTGGGTTCGCCGTGAA)TGTGACGAAGGACGAAAAGGAATATATGAAATCTATTCG___CTTGCATTGGTGACTTGGAGAGACTGTCTGTTCAGGCCACTGAATAAACAG___GTAACAAATGCTGTTTTAAAGCTGATTGAAAAGGAAAGGAATGGTGAAACCATCAATACAAGATTGATTAGTGGAGTTGTACAGTCTTACG|ATGTCCTTATTGGAAGAGGAAAGGAGCTGTGTGAGGCCAATACAGGGAGCAGGCCACGTGGCAAGGGTGGCAGAGATCCAAACGCTGCGGCTGCTGGCCAAGGAACATCAAGGAGTGCCGGGAACATGGCTCTGCTGACACCTTGATTTCGGACTTCTGGCCTCCAAAACTGTAAGACAACACATTTCTGTCATTTGAAGCCATCCAGTTTGTGGTACTTTGTTATGCAGTGCCAGGTGACGAATGTACCTATAGAAGCCTGGTGACACAAGAGGTGTCCCCCCATCACCTCTCTGAGACTTTTCCAAC MSSTRSQNPHGLKQIGLDQIWDDLRAGIQQVYTRQSMAKSRYMELYTHVYNYCTSVHQSNQARGAGVPPSKSKKGQTPGGAQFVGLELYKRLKEFLKNYLTNLLKDGEDLMDESVLKFYTQQWEDYRFSSKVLNGICAYLNRHWVRRECDEGRKGIYEIYSLALVTWRDCLFRPLNKQVTNAVLKLIEKERNGETINTRLISGVVQSY|dvligrgkelceantgsrprgkggrdpnaaaagqgtsrsagnmalltp* 01BR020 ENSG00000149084.13 ENSG00000254725.1(22922),ENSG00000251557.2(31764) +/+ ./+ chr11:43680987 chr11:43088998 CDS/splice-site intergenic duplication 0 6 0 13 25 medium out-of-frame . short_chain_dehydrogenase(100%)| . . ENSG00000149084.13 . ENST00000278353.10 . downstream upstream . ^(GTCATCCTCACCGTCACGGCCGGCGCCTCCTCCTGGATTCATTCACTCGCTCTTTTCATTCACGAAGGTAGTGAGGCCTAGTGGAAAGCCATGGAGAGCGCTCTCCCCGCCGCCGGCTTCCTGTACTGGGTCGGCGCGGGCACCGTGGCCTACCTAGCCCTGCGT)ATTTCGTACTCGCTCTTCACGGCCCTCCGGGTCTGGGGAGTGGGGAATGAGGCGGGGGTCGGCCCGGGGCTCGGAGAATGGGCAG|TGGAAGGAAAGTGATGAGTGGAACTGGATCCCACTGGAGAACAGCCAGGGCTCCATCACAGCCTAAAGCCTCAAGGAGCTCCCCATGAGGTGTCCCACACATGCAACCTTGCTTACTTACAGAAGCACCTAAGACACACCATTAAAAGCTGGAATAAATAGCCTCGAAAAGAGCATAACTATGTAACAGACGTTTTTCCCAATGTGACAAAACTAGCTGTGCTTAATCTAGGGCTGTTAAATAC MESALPAAGFLYWVGAGTVAYLALRISYSLFTALRVWGVGNEAGVGPGLGEWA|vegk* 01BR020 ENSG00000170271.11 ENSG00000082515.18 -/+ +/+ chr5:154818981 chr5:154959980 3'UTR CDS/splice-site deletion/read-through/3'-3' 2 3 0 35 241 medium . . |Ribosomal_protein_L22p/L17e(100%) . . ENSG00000170271.11 ENSG00000082515.18 . ENST00000523037.6 downstream upstream . CTGAGAACTTACAGCTTTGATGCACCAGGAACTGTATTCAAGCTGAGGGCAAAAGCCTCCTAGGGAGGGAGCCAGGTCCACCAAGGCCAGAGACAGACAGGCGAGACTGTGGAAGGCCAGGGAGATGCTGCCTG|GTTCTCTTAGAAGCACAAGATATGGCAGTGAGAGACCATAACGTGGAATTCAGGTCCAATTTATATATAG___CTGAGTCCACCTCAGGACGAGGCCAGTGCCTGAAACGCATCCGCTACCATGGCAGAGGTCGCTTTGGGATCATGGAGAAGGTTTATTGCCATTATTTTGTGAAGTTGGTGGAAGGGCCCCCACCTCCACCTGAGCCACCAAAGACGGCAGTTGCCCATGCCAAAGAGTATATTCAGCAGCTTCGCAGCCGGACCATCGTTCACA(CTCTATGATGAGGAGATTCAGACTCCACAGTGTATATATTTTGCCATTTATTTTCTAAAAATAAACAAAAATTGAAGGCAAATGCTTTTTATGATTTCTCATTGAATTATTGAAACAGTGTATAACTGCTAGTTGTAAATGAATATTTATAAGGCTTTGCCCATTTCTTTTGAGCCTCTGGGCATATTTGTATGCATTTGCGACTTGGAAGGGGAAATCAGCTTTAAACATAGTAACAGACTATATTTCAAAAGGCTTTTGGAGTAACTTTGAAAGGGAATGTTAACTTTCCAACTAGTGTCCTGCAGGTGGCTGTTTTGATACTGGACTTGAATACAGTGTTATGAGGTAAGAAAATTGCTTTTATTTCACTTAATTTTCTCTTGGGACCATGGGAAGTTAGAGTGGCTGCATGTTGTTTCATTACAGTATTTTAGGGTGTTCAGTGGTACCGTTTTTCCTTTCACTGTTGGCACAGGCCAGTGAGTCAAAAATTATATTTTCCTTTACTGTTTTAGCAGTAACTCGAAACTACAGGAGTTTATTAGATATACGAATCTAAAACTCCAAAAACCTTTAACTTTGAAAATTTTCTTTTGGTTAAGCAAAGCCTGTTTTTATTTCTTCTTCCAACAGTGCTTTATATTGTTTGGATATCTTGTTTAGGATTGATTTATTTTTCAGGGTAAATTCAATTACTGAGAGAGGAATTGAACCAATCTCAGCATTGCATTCTAAAATGGGGCAGTAGGTGGCACTCAACCTTTTATTAGCAGAAAATTGTTAGTTTCAAATTAGAGTGTTCAACACTGCTTCCCTCTCATTCATACACGTCTTCATTAAGAAGAAGTACTCTTTGTCTACAGCCCTAGTCCAACTTTTGCATGCAAAAGAAGAATCGAGGATGCTTGCTTGTTAATGCAGACTTCTGGGCCCCACCCCAATGATTCAATTCACTAGGTCTTATGGGGGGCTGGTTTCAGAAATCTATGTTTTAAACAAACACTTCCAGGTAATTCTGTTGTAGGGGACTACGCTTTGAGAATACGGCTTTAGGAGAATGAAAAAATGTAGTTTTATTGCCATGTTTTAAGATGGCATTAATAATAGTTACTGTTTACTGGGAACTTGTTATTTGCAAGCTCTGTGCTAGTATTTTACATAATTCTTCACAACATCCTGAAAATGTAGCTTTTGTTTTACCACTTTACAAAGGAATAAACCGAAGCACACAGAATTCAAATAACTATCACAAGTCACACAGCATGTAAATATTGGGGCTATGATTGAAAGGTTTCTAAAGTAGCTGGTTCTGCATACCTTTTGAGTATACAGCTGGGTTTTTGTGTCTCTCCAGTTAACCTAATGCATGGGTAAAAAGACATCAGGGGTCAGTGGAATAAACCAAGGTGTAGGACAGATTCATTCTGGGTCCTAAGCTGTTGTAGCATGGAGTCAGGGAAATAACACTGGAATATTAAAAGGTAACCTTCATTCTAGTCTGTGCATTCTCATTAGCCAGAAAGAAGACTGGATAGGTCTCTTCCCTTGCTGGCCTCCATTTCATTCATTTATGAAACAAGAGACTCAATGTTCTCTGTAGAAAACCTTTTTTAGAATCACTTGAAGAATTTGTTTAAAAATGCAAATTCCTGGGCTCTACTCTCAGACTAAGTGAATCAGAAGCTTTGGTGTGGGAGACCATGGAACCTGCAGTTTTAATAAATGCCCCAGTGATTTGCATGTTGGAGAATTATCACACCAGGTCACTGTGCTCTCATGTGGTGGGGATGCTCCACGATTGCTCTTGGAGTTGTGACTTCCTTGGGTGTGACTAAAGCCAGGTGGTGCCATGGACATCATAAATATAAATTATGTAAGTGAAGGCACTGCTTCAGTCAGGCTGTAAAAGCTATTTTGAAAGTGGTAAGGAAAAAGTAGGATTGTAATGAAGAAAATTTCCTTCCCAGGTTAAGCCTTCATTTGGAACTGCTTCCAGTACGTTACAAAAAGTAATAATAGCTAACCTGTGTCACTGACTGTATCTGGTACTATTTTAAGCACTATATATACATTATCTCAATGAATCTTTCCCATTGTGACATCCGGCTAGTTTTCGTGGCTAAGAGTGTACTTTCTAACATCCATGAACATTGTGGTCCCCACCTGAAGTTTCACTTTGCATGTTCAGTGATATGGTTTGGCTCTGTGTTCCCACCCAATCTTATCTCAAATTGTAATCCCCATGTGTCCAGGGAGGGACCTGTAATCCCCACCTAGTGACGGAGGGAGGTGATTGATGATGGGTGTGGTGTACCCCATGCTGTTCTCGTGATAGTGAGTGGGTTCTCATGAGATCTGATGGTTTTATAAGTGTTTGAAAGTTCCCTCTTCACTCGCTGTCTTGCCTGCTGCCATGTAAAATGTGCCTACTTCACCCTCTGCCATGATTGTAAGTTTCCTGAGGCCTCCCCAGCCATGCAGAACTTTGACACAATTAAATGTCTTTTCTTTATAAATTA)$ . 01BR020 ENSG00000155313.15 ENSG00000287907.1 +/+ -/+ chr21:15799843 chr18:68471553 CDS/splice-site intron translocation/5'-5' 0 5 0 23 7 medium out-of-frame . Ubiquitin_carboxyl-terminal_hydrolase(100%),Ubiquitin_interaction_motif(100%)| . . ENSG00000155313.15 ENSG00000287907.1 ENST00000400183.6 . downstream upstream . ^(AAGCAGCCCGCGGACCGGCAGCAAAGGAACGTGCGAACGCGTGACGCCGCCCGACTGGCTCGCGCTCTCCCGTGCCCCGGCGTCCTCCGCCCGCTCATGGCCCGGGCCGCCGCGGACGAGCGGCGCTGAGGCGGGCCGCGTGGAGACGTGAGGCGGCCGCCGTGGCCCTCACAGTCGGCGTTTCGCCGCCTGCCCGCGGTGCCCGCGCACGCCGGCCGCCATCGCCTTCGCGCCTGGCTGGCGGGGGCGCTGTCCTCCCAGGCCGTCCGCGCCGCTCCCTGGAGCTCGGCGGAGCGCGGCAGCCAGGGCCGGCGGAGGCGCGAGGAGCCGGGCGCCACCGCCGCCGCCGCCGCCGCCGCCGCGGGGGCCATGACCGTGGAGCAGAACGTGCTGCAGCAGAGCGCGGCGCAGAAG___CACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAG___GATAGTAATGGAAACTTGGAATTAGCAGTGGCTTTCCTTACTGCGAAGAATGCTAAGACCCCTCAGCAGGAGGAGACAACTTACTACCAAACAGCACTTCCTGGCAATGATAGATACATCAGTGTGGGAAGCCAAGCAGATACAA___ATGTGATTGATCTCACTGGAGATGATAAAGATGATCTTCAGAGAGCAATTGCCTTGAGTTTGGCCGAATCAAACAGGGCATTCAGGGAGACTGGAATAACTGATGAGGAACAAGCCATTAGCAG___AGTTCTTGAAGCCAGCATAGCAGAGAATAAAGCATGTTTGAAGAGGACACCTACAGAAGTTTGGAGGGATTCTCGAAACCCTTATGATAGAAAAAGACAGGACAAAGCTCCCGTTGGGCTAAAGAATGTTGGCAATACTTGTTGGTTTAGTGCTGTTATTCAG___T)CATTATTTAATCTTTTGGAATTTAGAAGATTAGTTCTGAATTACAAGCCTCCATCAAATGCTCAAGATTTACCCCGAAACCAAAAG|AGTTGACCTCCCCTACTCCACTCCAGTCTCCAGCTGAAACTGTCTCTGCTGCTCCTCTTCGGGACCAGCAATGGAACCTCCCaCTGTGCCTCATCAGGTCTTCCCATGGTGGGTGGCTTCTAGCAGCCATGATTTCCACTCAGAGACTCCCAACTACTCAAG MTVEQNVLQQSAAQKHQQTFLNQLREITGINDTQILQQALKDSNGNLELAVAFLTAKNAKTPQQEETTYYQTALPGNDRYISVGSQADTNVIDLTGDDKDDLQRAIALSLAESNRAFRETGITDEEQAISRVLEASIAENKACLKRTPTEVWRDSRNPYDRKRQDKAPVGLKNVGNTCWFSAVIQSLFNLLEFRRLVLNYKPPSNAQDLPRNQK|s* 01BR020 ENSG00000239440.6 ENSG00000230944.1(532735),ENSG00000229642.1(173346) +/+ ./- chr3:82185453 chr3:5789496 exon/splice-site intergenic inversion 0 4 0 9 27 medium . . . . . ENSG00000239440.6 . ENST00000470263.5 . downstream downstream . ^(CTGTGTGGAAACTGGGATTTGAACGGCGGGCAGGAAGTACTCGAGTAGGGAGTCTGGCCTAGTGAAAGTCTCTGTTTCCTCCTTTTCTTACTTTTCACTCAATAAAACCCTGCTTTACACACCCTTCAAACCATCTGTGAGCCTGAATTTTTACGGCCATGGGACAGACAAGGATCCTGTCTTTATCTAAACTAAGGAAAAGTCCTGCAACATTTGTGGTGCACAACGTGGGGCTCGAGAAGTG___GAAAACGCCTATTTTGGAGTGAAACCAGGGCC)GCCTTATGAGCTAAACAGAGTGTGTTACAGCTTCAATAGACTAAACAAGCTCTAAATTTATCTTCCTATG|GTGATGGGATGGGACACTAGTGAGCATGCGAACCTATCAGGAATGAGCCTGCCCAGCGAATGAGACAGCAGAGGAACTCTGCAGAGATGTTACTTGGCCTTGTTTCCCTTTCATCTTCTGTTTTCTTTAAG . 01BR020 ENSG00000072518.20 ENSG00000162302.13 +/+ +/+ chr11:63839560 chr11:64368132 CDS/splice-site CDS/splice-site deletion 0 3 0 10 60 medium in-frame . |Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000072518.20 ENSG00000162302.13 ENST00000402010.6 ENST00000528057.5 downstream upstream mismatches(1) ^(AAACAGAGCCGAAGCTTCGTCTTCGGAATCGAGGAGGAGAGCGCGTCCCCGGGGTTTACCTTCTTCGGCTGTTTCCGGAATTCACCCGTAGTCTGTGGCCGGGAGGAGAAGGCGCGCCCCACCTCCCGTTTCTAGCCGCTTCGGATGTTTCCGGCTGCTGCCGGCGAAAAGAGCCGAGGGCCGGCGGTGGTGGCGGCCATGTTGGGAGCAGCAGGTCCGGCGGCGGCTGCCTGTGTGCCGGGCGCGGAGCAGTGCCGCTGAGGGCAGGGGAGGAGCGAGGCAGGCGGCCGGCTGCGGCGGCAGAGAGTAGGCGGAGCGGCGCGGCCCGGCCGAAAGGCGGCACAGCCCAGCCGGGGGTCGGGGGGGTGCGGTCCGGAGCCGCTCGGAGCCGGCGCGGCCTAGCCCGAGCGGCGCATCCCCGGGCTGGCGTGAGCGGCTGCCCGGCCTCCCCGCACCCCCGGCCGGGGCCCATGCGGCGGGTGCTCCTGCTGTGAGAAGCCCCGCCCGG)CCGGGCTCCGCGCCTTCCCTTCCCTCCCTTCCTCCAAGCTTCTCGGTTCCCTCCCCCGAGATACCGGCGCCATGTCCAGCGCTCGGACCCCCCTACCCACGCTGAACGAGAGGGACACGGAGCAG|GGATACTCCTTTGTGGCACCCTCCATTCTCTTTGACCACAACAACGCGGTGATGACCGATGGGCTGGAAGCGCCTGGTGCTGGAGACCGGCCAGGTCGGGCAGCGGTGGCCAGGAGCGCTATGA(TGCAG___TACGAGCTGGACCTGCGGGAGCCTGCGCTGGGCCAGGGCAGCTTTTCTGTGTGTCGCCGCTGCCGCCAGCGCCAGAGCGGCCAGGAGTTCGCAGTCAAGATCCTCAGTCGCAG___GCTGGAGGCGAACACGCAGCGCGAAGTGGCTGCCCTGCGCCTGTGCCAGTCACACCCCAACGTGGTGAATCTGCACGAGGTGCATCACGACCAG___CTGCACACGTACCTGGTCCTGGAGCTGCTGCGGGGCGGGGAGCTGCTGGAGCACATCCGCAAGAAGCGGCACTTCAGCGAGTCGGAAGCAAGCCAGATCCTGCGCAGCCTCGTGTCGGCCGTGAGCTTCATGCACGAGGAGGCGGGCGTGGTGCACCGCGACCTCAAGCCGGAG___AACATCCTGTACGCCGACGACACGCCCGGGGCCCCGGTGAAAATCATCGACTTCGGGTTCGCGCGGTTGCGGCCGCAGAGTCCCGGGGTGCCCATGCAGACGCCCTGCTTCACGCTGCAGTACGCTGCCCCCGAGCTGCTGGCGCAGCAGGGCTACGACGAGTCCTGCGACCTCTGGAGCCTGGGCGTCATTCTG___TACATGATGCTGTCGGGGCAGGTCCCCTTCCAGGGGGCCTCTGGCCAGGGCGGGCAGAGCCAGGCGGCCGAGATCATGTGCAAAATCCGCGAGGGGCGCTTCTCCCTTGACGGGGAGGCCTGGCAGGGTGTATCCGAGGAAGCCAAGGAGCTGGTCCGAG___GGCTCCTGACCGTGGACCCCGCCAAGCGGCTGAAGCTCGAGGGACTGCGGGGCAGCTCGTGGCTGCAGGACGGCAGCGCGCGCTCCTCGCCCCCGCTCCGGACGCCCGACGTGCTCGAGTCCTCTGGGCCCGCAGTGCGCTCGGGTCTCAACGCCACCTTCATG___GCATTCAACCGGGGCAAGCGGGAGGGCTTCTTCCTGAAGAGCGTGGAGAATGCACCCCTGGCCAAGCGGCGGAAGCAGAAGCTGCGGAGCGCCACCGCCTCCCGCCGGGGCTCCCCTGCACCAGCCAACCCGGGCCGAGCCCCCGTCGCCTCCAAAGGGGCCCCCCGCCGAGCCAACGGCCCCCTGCCCCCCTCCTAATCCCCACCACTGTGACCCCCTTCCCTCATAGGGGCTGTGACCTGGGAGCCCGGCTCACTCCCGGAGGCCTCTGCCTGCGGCTGACCTGATCCCCAAGGGACTGTCCTTTCCTCTCCTACCCCACCCCACTCCCAGACAGAGCAGAAGTATTTTTATAAGCAGAGAATTTTTTATGTCTTACCAGATAGAGTTGCAGGGAAGGGGGGGCCTGCTGGGGAGTGGGGTTTGGGGGGCCCTCTCCCAGGACACTGCCTCTTCTGGGCAGAAGGCCCCTCCAGGGGGACTGCTCCAACAGGAAAGAGCCCCTCCCCCACTTCTAAGCACTGAGTTAGGAGTGCTAACTCCTAAACTGGGACCCCCTACCCTGTTCTCCCCTGAGGCCCCGTTCCTGGGAGGGGCACCCCTCAACTGTCACTTTATGGACTGTCTGTGCAATTACGTCCACCAAAGACCCGTGTTGGGGGTACTGAAGGAGAGGCCCTGGGGGACCCTCTGAAGCATTTCTGCCTCACTTTATGTCATCTGCTTCTCCCCTGTTGGGGCTAAGGAAGGAGATAGGTGGCTCCTAAAAGAGGAGGCCATCTTCTCACCCACCCCTTCCTCTTTGGCACAGCTACTCCTGGCTGGGGGTGGGGCCTTGGGGGTCTGGGCTGGGCATCCATGGTCACTGCCTCAGCCCAGCCAGGCTGTGCCTTTGACTTTAAAATAAAAGTCCACCCAGTGCTGTGTGTGGCA)$ MSSARTPLPTLNERDTEQ|GYSFVAPSILFDHNNAVMTDGLEAPGAGDRPGRAAVARSAMMQYELDLREPALGQGSFSVCRRCRQRQSGQEFAVKILSRRLEANTQREVAALRLCQSHPNVVNLHEVHHDQLHTYLVLELLRGGELLEHIRKKRHFSESEASQILRSLVSAVSFMHEEAGVVHRDLKPENILYADDTPGAPVKIIDFGFARLRPQSPGVPMQTPCFTLQYAAPELLAQQGYDESCDLWSLGVILYMMLSGQVPFQGASGQGGQSQAAEIMCKIREGRFSLDGEAWQGVSEEAKELVRGLLTVDPAKRLKLEGLRGSSWLQDGSARSSPPLRTPDVLESSGPAVRSGLNATFMAFNRGKREGFFLKSVENAPLAKRRKQKLRSATASRRGSPAPANPGRAPVASKGAPRRANGPLPPS* 01BR020 ENSG00000235221.3 ENSG00000150361.12 +/+ -/+ chr13:69275264 chr13:69782126 exon/splice-site intron deletion/5'-5' 0 3 0 30 4 medium . . . . . ENSG00000235221.3 ENSG00000150361.12 ENST00000648574.1 . downstream upstream . ^(GAGGCTTGCCACCATCTTGGAAGCAGCCTGCCACCATCTTGGAAGTGGCTCACCACCGTCTTGGGAGTTCTGTGAACAAGGACCCCTGGTAACATTTTGGCGACCACGAAGGGACATCCAAAGCT___CTTAACTAATGCTTGTGATGTTTAACGCCTGTCTTTTCAACTTGGTCTACT)GAGTCTTCAATACTGGTGACTGAGCTGCTTGAAGTGAACTCTGGACAAGGTGGAGAGCATCTTCTTGATTTAAG|CTCTCTCTTGGAAGATGAATTATGTCTGGTTTTAAAGAAAATATAGTATTGGCTGGGGAGTCAAGATGGCCGAACAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGAcGGGTGaTTTCTGCATTTCCATCTGAG . 01BR020 ENSG00000155313.15 ENSG00000264697.1(20583),ENSG00000166479.10(124982) +/+ ./+ chr21:15799843 chr18:68548706 CDS/splice-site intergenic translocation 0 3 0 23 15 medium out-of-frame . Ubiquitin_carboxyl-terminal_hydrolase(100%),Ubiquitin_interaction_motif(100%)| . . ENSG00000155313.15 . ENST00000400183.6 . downstream upstream . ^(AAGCAGCCCGCGGACCGGCAGCAAAGGAACGTGCGAACGCGTGACGCCGCCCGACTGGCTCGCGCTCTCCCGTGCCCCGGCGTCCTCCGCCCGCTCATGGCCCGGGCCGCCGCGGACGAGCGGCGCTGAGGCGGGCCGCGTGGAGACGTGAGGCGGCCGCCGTGGCCCTCACAGTCGGCGTTTCGCCGCCTGCCCGCGGTGCCCGCGCACGCCGGCCGCCATCGCCTTCGCGCCTGGCTGGCGGGGGCGCTGTCCTCCCAGGCCGTCCGCGCCGCTCCCTGGAGCTCGGCGGAGCGCGGCAGCCAGGGCCGGCGGAGGCGCGAGGAGCCGGGCGCCACCGCCGCCGCCGCCGCCGCCGCCGCGGGGGCCATGACCGTGGAGCAGAACGTGCTGCAGCAGAGCGCGGCGCAGAAG___CACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAG___GATAGTAATGGAAACTTGGAATTAGCAGTGGCTTTCCTTACTGCGAAGAATGCTAAGACCCCTCAGCAGGAGGAGACAACTTACTACCAAACAGCACTTCCTGGCAATGATAGATACATCAGTGTGGGAAGCCAAGCAGATACAA___ATGTGATTGATCTCACTGGAGATGATAAAGATGATCTTCAGAGAGCAATTGCCTTGAGTTTGGCCGAATCAAACAGGGCATTCAGGGAGACTGGAATAACTGATGAGGAACAAGCCATTAGCAG___AGTTCTTGAAGCCAGCATAGCAGAGAATAAAGCATGTTTGAAGAGGACACCTACAGAAGTTTGGAGGGATTCTCGAAACCCTTATGATAGAAAAAGACAGGACAAAGCTCCCGTTGGGCTAAAGAATGTTGGCAATACTTGTTGGTTTAGTGCTGTTATTCAG___TCATTATTTAATCTTTTGGAATTTAGAAGATTAGTT)CTGAATTACAAGCCTCCATCAAATGCTCAAGATTTACCCCGAAACCAAAAG|GTTTAAAGAGGATGAGAAGTCTCCCAGGCACCAACCTGTCTATGCTCACGGCACAACACTGGCACCTACATATGGGCTCTAACCGAAAGACTGATTTGGACTGATTTGGACTGATTTGATGGCAACTCACGTGTGTTACTCCAGCGATTCAAGCCTGTGCTTTACCAAAAGGAAAGCTAAACTCAGTCCCATTGGATTCAC MTVEQNVLQQSAAQKHQQTFLNQLREITGINDTQILQQALKDSNGNLELAVAFLTAKNAKTPQQEETTYYQTALPGNDRYISVGSQADTNVIDLTGDDKDDLQRAIALSLAESNRAFRETGITDEEQAISRVLEASIAENKACLKRTPTEVWRDSRNPYDRKRQDKAPVGLKNVGNTCWFSAVIQSLFNLLEFRRLVLNYKPPSNAQDLPRNQK|v* 01BR020 ENSG00000184305.15 ENSG00000287239.1(102061),ENSG00000184305.15(26115) +/+ ./+ chr4:90468354 chr4:90101470 CDS/splice-site intergenic duplication 0 3 0 10 6 medium out-of-frame . . . . ENSG00000184305.15 . ENST00000509176.5 . downstream upstream . ^(GTCTCAACATGACTGACTGGGAAGCGGTGGCTCGGGCAGAGCAGCTCCGCTGGCGCAGGCAGGAGGAGCAGGAGGATTATTAAATAACGCAGCTGGACTCTGTGCAACTGGGAGTGGAGAGGAGCCCAACAGCCGAGAAGGGGAGGGAGGGCAGAGGAGGGGGACCAGGAAGGACACCCCCGTGCCCCGAAGACATAAATCCCTGAGTGCCCGGGAGGAGCCTTAACAAGCGCACGGAGCCCTCAAG___GCTGCAAAGTTGGCTTTCACAGTGCAAGCCTTTGATTCCCAATGGGGGACTCAGGATCAAGACGATCTACCCTGGTCTCCCGGTTGCCAATATTCAGAAGAAGTATTAACAGAAGACATGATTCTCTTCCTTCTTCACCTTCTTCCAGTAATACAGTTGGTGTCCACAGTTCCTCTCCTTCCAGCACTAACTCAAGCTCAGGTAGCACAGGTAAACGGAGGAGCATATTCCGTACTCCTTCCATTAGCTTCCACCATAAGAAGGGGAGTGAGCCTAAGCAAGAGCCTACCAACCAGAACCTTAGTATTTCAAATGGTGCTCAACCTGGTCACAGCAATATGCAGAAACTGAGTTTGGAAGAACATATTAAGACCAGGGGAAGACATTCTGTTGGTTTTAGTAGTTCACGAAATAAGAAGATAACAAGATCTTTGACAGAGGATTTTGAAAGGGAAAAAGAGCACTCAACTAACAAGAATGTCTTTATAAATTGTCTAAGTTCTGGCAAAAGTGAAGGGGATGATTCTGGTTTCACAGAAGACCAAACTCGTCGTTCTGTTAAGCAGTCAACAAGGAAGCTACTCCCTAAATCTTTTTCATCTCACTATAAATTTTCTAAGCCAGTTCTACAGAGCCAATCCATTTCATTGGTACAACAGTCTGAATTCTCATTGGAAGTTACACAGTACCAAGAGAGAGAACCTGTATTAGTAAGAGCTTCGCCATCCTGTTCTGTGGATGTAACAGAACGGGCAGGAAGCTCTTTACAATCTCCTTTGCTTTCTGCTGATCTTACCACAGCTCAGACACCTTCAGAATTTTTAGCCTTGACTGAAGATTCTGTGTCTGAAATGGATGCATTTTCTAAAAGTGGAAGCATGGCATCCCACTGTGACAACTTTGGCCACAATGATTCTACCTCTCAGATGTCCCTCAATTCTGCTGCTGTTACAAAGACAACAACAGAACTTACGGGAACTGTTCCCTGTGCAATTATGTCTCCTGGGAAATATAGGTTAGAGGGTCAATGTAGCACTGAATCTAATTCATTACCGGAAACCTCTGCTGCTAATCAGAAGGAAGTGTTATTACAAATTGCTGAACTACCTGCTACAAGTGTGAGCCACTCAGAGAGTAACCTACCAGCAGATAGTGAAAGAGAAGAAAATATAGGGTTACAAAATGGTGAAACAATGCTGGGGACAAACTCCCCAAGGAAACTTGGATTTTATGAGCAACATAAAGCAATAGCGGAACATGTAAAAGGGATCCATCCTATTTCAGATTCAAAGATAATACCTACTTCTGGTGATCATCATATTTTTAACAAAACATCACATGGATATGAAGCAAATCCTGCCAAAG___TTCTTGCCAGTAGTCTCAGTCCATTTCGTGAAGGAAGATTTATAGAGAGGAGACTGCGATCCTCGTCAGAAGGCACTGCAGGGAGTAGCAGAATGATTTTGAAACCGAAAGATGGAAATATAGAAGAAGTTAATAGTTTAAGAAAGCAAAGAGCAGGTTCTTCATCTTCAAAAATGAACAGTTTG___GATGTTTTGAATAATTTGGGATCTTGTGAACTGGATGAAGATGATCTAATGCTTGATCTTGAATTTTTAGAGGAACAGAGTCTTCACCCTTCTG___TTTGCCGGGAGGACTCATATCACTCTGTCGTCTCATGTGCCGCAGTAGTT)CTTACTCCTATGGAACCAATGATAGAAATGAAGAAAAGAGAAGAACCAGAATTTCCTGAGCCTTCCAAACA|ACAGGGTTTTGCCATGTTGCCCAGGCTGATCTTGAACTCCTGGACACAAGGTAGGTATCAACCCGTCTCAGCCTCTCAAAGTTCCTGGATTACAGGTGTGAACCACCATGTCCACCATTAAATTGCTTCTTTATACATGAAATATATAATGATAAATTATTTTTAGCTTGCACTTAAAATTTGACACCCACAGAACAATTAATTTTTTATTTAAAAAGATTG MGDSGSRRSTLVSRLPIFRRSINRRHDSLPSSPSSSNTVGVHSSSPSSTNSSSGSTGKRRSIFRTPSISFHHKKGSEPKQEPTNQNLSISNGAQPGHSNMQKLSLEEHIKTRGRHSVGFSSSRNKKITRSLTEDFEREKEHSTNKNVFINCLSSGKSEGDDSGFTEDQTRRSVKQSTRKLLPKSFSSHYKFSKPVLQSQSISLVQQSEFSLEVTQYQEREPVLVRASPSCSVDVTERAGSSLQSPLLSADLTTAQTPSEFLALTEDSVSEMDAFSKSGSMASHCDNFGHNDSTSQMSLNSAAVTKTTTELTGTVPCAIMSPGKYRLEGQCSTESNSLPETSAANQKEVLLQIAELPATSVSHSESNLPADSEREENIGLQNGETMLGTNSPRKLGFYEQHKAIAEHVKGIHPISDSKIIPTSGDHHIFNKTSHGYEANPAKVLASSLSPFREGRFIERRLRSSSEGTAGSSRMILKPKDGNIEEVNSLRKQRAGSSSSKMNSLDVLNNLGSCELDEDDLMLDLEFLEEQSLHPSVCREDSYHSVVSCAAVVLTPMEPMIEMKKREEPEFPEPSKq|qgfamlprlilnswtqgryqpvsasqsswitgvnhhvhh* 01BR020 ENSG00000119402.17 ENSG00000268243.1(1432),ENSG00000249861.4(9869) -/- ./- chr9:120771348 chr19:39646044 CDS/splice-site intergenic translocation 3 0 0 627 7 medium out-of-frame . F-box-like(100%),WD_domain__G-beta_repeat(100%)| . . ENSG00000119402.17 . ENST00000608872.6 . upstream downstream duplicates(1) ^(AGGCAGCACCGGAAGCCGCTCCCCTGTGAGGCTGCGGACCGGGAGCAGCGGCCGCAGGTCCGG___GCGCCATGGCTGCGGAGCGGACCCGGCCGCTGCAAGGCTCTGGCGGTCCGAGCGTGCCTAGTAGCTGTGAACCCGGCGCGAGGTCCCGGGCCCCGGGGCGCTCGCTCAG___GTAAATTTTTCCATAACCTTATGGAGAGAAAGGACTTTGAGACATGGCTTGATAACATTTCTGTTACATTTCTTTCTCTGACGGACTTGCAGAAAAATGAAACTCTGGATCACCTGATTAGTCTGAGTGGGGCAGTCCAGCTCAGGCATCTCTCCAATAACCTAGAGACTCTCCTCAAGCGGGACTTCCTCAAACTCCTTCCCCTGGAGCTCAGTTTTTATTTGTTAAAATGGCTCGATCCTCAGACTTTACTCACATGCTGCCTCGTCTCTAAACAGTGGAATAAGGTGATAAGTGCCTGTACAGAGGTGTGGCAGACTGCATGTAAAAATTTGGGCTGGCAGATAGATGATTCTGTTCAGGACGCTTTGCACTGGAAGAAGGTTTATTTGAAGGCTATTTTGAGAATGAAGCAACTGGAGGACCATGAAGCCTTTGAAACCTCGTCATTAATTGGACACAGTGCCAGAGTGTATGCACTTTACTACAAAGATGGACTTCTCTGTACAG___GGTCAGATGACTTGTCTGCAAAGCTGTGGGATGTGAGCACAGGGCAGTGCGTTTATGGCATCCAGACCCACACTTGTGCAGCGGTGAAGTTTGATGAACAGAAGCTTGTGACAGGCTCCTTTGACAACACTGTGGCTTGCTGGGAATGGAGTTCCGGAGCCAGGACCCAGCACTTTCGGGGGCACACGGGGGCGG___TATTTAGCGTGGACTACAATGATGAACTGGATATCTTGGTGAGCGGCTCTGCAGACTTCACTGTGAAAGTATGGGCTTTATCTGCTGGGACATGCCTGAACACACTCACCGGGCACACGGAATGGGTCACCAAG___GTAGTTTTGCAGAAGTGCAAAGTCAAGTCTCTCTTGCACAGTCCTGGAGACTACATCCTCTTAAGTGCAGACAAATATGAGATTAAG___ATTT)GGCCAATTGGGAGAGAAATCAACTGTAAGTGCTTAAAGACATTGTCTGTCTCTGAGGATAGAAGTATCTGCCTGCAGCCAAGACTTCATTTTGATGGCAAATACATTGTCTGTAGTTCAGCACTTGGTCTCTACCAGTGGGACTTTGCCAGTTATGATATTCTCAG|GCCCAGACGCACCAGAGCTCAGCACCACGGACAGCACCACAGAAGAAACAGCTTTGGGAGACTTGGACATCAAGG MERKDFETWLDNISVTFLSLTDLQKNETLDHLISLSGAVQLRHLSNNLETLLKRDFLKLLPLELSFYLLKWLDPQTLLTCCLVSKQWNKVISACTEVWQTACKNLGWQIDDSVQDALHWKKVYLKAILRMKQLEDHEAFETSSLIGHSARVYALYYKDGLLCTGSDDLSAKLWDVSTGQCVYGIQTHTCAAVKFDEQKLVTGSFDNTVACWEWSSGARTQHFRGHTGAVFSVDYNDELDILVSGSADFTVKVWALSAGTCLNTLTGHTEWVTKVVLQKCKVKSLLHSPGDYILLSADKYEIKIWPIGREINCKCLKTLSVSEDRSICLQPRLHFDGKYIVCSSALGLYQWDFASYDILr|prrtraqhhgqhhrrnsfgrlghq 01BR020 ENSG00000207814.1(114147),ENSG00000136861.18(29672) ENSG00000166133.18 ./- +/+ chr9:120359197 chr15:40571604 intergenic CDS/splice-site translocation 2 0 0 36 31 medium . . |RNA_pseudouridylate_synthase(100%) . . . ENSG00000166133.18 . ENST00000315616.12 upstream upstream . GAGCCTGAGAGTGAGGCCTTTGAATGATGCCCTGGACAGAGCTTGGAACATGAAGGTGAATACTGTTGTGGGGAGAATGCATCCCTTTGCCTGGCTCTGAGCCAGGGCCAGCTTTGGATCCTGCTAGCCCCATGGATATAGAG|GACAATGATTTCTTGCGGAACACAGTGCACAGG(CATGAGCCACCAGTCACAGCAGAGCCCATTCGCCTGCTAGCTGAGAACGAAGATGTGGTGGTTGTAGACAAGCCTTCCTCCATTCCCGTTCACCCCTGTGGCCGCTTCCGACACAACACAGTTATCTTCATCCTAGGCAAGGAGCACCAACTCAAGGAGCTACACCCCTTGCATCGGCTTGACCGCCTTACCTCAGGGGTGCTTATGTTTGCCAAGACAGCTGCAGTCTCTGAGAGAATTCACGAGCAGGTTCGGGACCGGCAG___CTGGAGAAGGAGTACGTGTGCCGGGTGGAAGGGGAGTTCCCCACTGAGGAAGTGACCTGTAAAGAACCCATCTTAGTGGTGTCTTACAAAGTAGGGGTGTGCCGTGTAGATCCCCGGGGCAAGCCCTGTGAGACAGTGTTCCAGAGGCTAAGCTACAATGGCCAGTCCAGTGTGGTACGGTGCCGGCCACTCACAGGCCGCACACACCAGATTCGAGTCCACCTTCAGTTCTTGGGCCATCCCATTCTCAACGACCCCATCTACAACTCAGTTGCCTGGGGTCCTTCTCGAGGCCGGGGCGGCTACATTCCCAAGACAAACGAGGAGTTGCTACGGGACCTGGTAGCAGAGCACCAGGCCAAACAGAGCCTGGATGTGCTAGATCTCTGTGAGGGTGACCTGTCCCCAGGACTCACAGACTCTACGGCCCCCTCCTCAGAGTTGGGCAAGGACGACCTGGAAGAGTTGGCTGCAGCTGCCCAGAAGATGGAGGAAGTAGCTGAGGCAGCCCCTCAGGAGTTGGACACAATAGCCTTGGCATCAGAGAAGGCAGTTGAAACAGATGTCATGAATCAAGAGACAGACCCACTCTGTGCAGAGTGCCGGCTGGTGCGACAGGATCCCTTGCCCCAAGACCTTGTGATGTTCCTACATGCCCTACGCTATAAAGGGCCAGGCTTTGAGTACTTTTCACCAATGCCTGCCTGGGCACAGGATGACTGGCAAAAGGACTGAGGGTGTGGCCAATGGAGGGATTGCTTCTTGGGTTGTGACAAGGATGGGCTATAGGGCAAGGGCTGACCCCATGGGCTAGTACTTGGGGTTTCTATAGGAATGAGGACGGGCTTCTAAAGAGACCTGCTCATACTTGCTACCTCCTTCCAGTGGGAATTTGGAGACTTTTTGGTTTGTAAATATATCCCTTTTTCTAACATCTTTGATGTCTGGTTTTCTTCCGGCTTCTTTTTTATTACTGATGTAAAATTCACATAACATAAAATTAACCACTTTAACTAGCCAGGCACAGTGGCTCATGGCTATAATCCTAGTACTTTGGGAGGTAGAAGTGAAAGGATCACTGGAGGCCAAGAGTTCAAGGTTAAAGTGAACTGTGATTGTGCTGCTGCACTCCAGAGCCTAGGTGACAGAGTGAGACCCTGTCTCTTAAAAAAAAAAAAAATTAACCAATTTAAGATGTACAGCGTAGTCACATTTAGTACATTCACAGTGTTGTACAACCATAACCTCATATATTTCCAAAACATTTTCATCACCCCAAAAGGAAACCTGTACCCATTAAGTAAGTGGTCACTTTCCACTCCCCTTCCACCAGCCTCTGGCAACCACTAATCTACTTTCTGTCTGTTTGGATTTGCCTGTTTATTCTGGACATTTTATATAAATGGAATGATAAAACATGTGA)$ . 01BR020 ENSG00000274265.5 ENSG00000234232.7 +/+ -/+ chr1:149176250 chr1:149698630 exon/splice-site intron deletion/5'-5' 0 2 0 49 15 medium . . . . . ENSG00000274265.5 ENSG00000234232.7 ENST00000611769.4 . downstream upstream . ^(GGATCACTTCCGAAACCACTTGGCCTTCAGCCCCTGCCTCGGCCAGAGGTTTCATTTTTAACTGAATATTTACCAAAGCTGAAAGCGTGCGAGGGGGGTGGGGTGGAAATAGCGGCTGCTTCTTTTCCAAGGATTTATTTAATGGGGATGTGTTCAAGGCAAGACCGAATTCAGAAGGATATCGACGTCGTGATC)CAGAAGTCCAGAGCTGAGGACTGCCTGTTTGCAG|GACAACTGTGCAGACTACAAAGCTTCGGAAAACCGGAGAGGCTGAGTCGACTAATCGTGTTGTTGCACGTTAGAAACGCTTGCATTGCCTGACTCTGAAACCAGAAGGGCGGCCGAATGGCCTTCACCCTCCATTAACCCTCGCCTCCTTCAGAAGCCAGTGCCTCTGGAAATGCCTGGATCTGCGACCCCAGCCTGAGC . 01BR020 ENSG00000058063.16 ENSG00000279429.1(17327),ENSG00000233830.2(27945) +/+ ./- chr3:182889548 chr7:27430218 CDS/splice-site intergenic translocation 0 2 0 31 7 medium out-of-frame . Cation_transport_ATPase_(P-type)(100%),E1-E2_ATPase(100%),Phospholipid-translocating_ATPase_N-terminal(100%),Phospholipid-translocating_P-type_ATPase_C-terminal(100%)| . . ENSG00000058063.16 . ENST00000323116.10 . downstream downstream . ^(AATAATGAAGGTGGCTGCGGCGCGGCGGCAGGCTCAGCTGCGCCGGGCGGGGGCGGCGCCGGGGCCGCGCCTGTAGGACTCGGGGCCGACGCCGCGGGATGGGGACGCGGCGCGGGGAGTGAGGCAGTGGCGGCGGCGGCGGTAAGCGGAACTTCGGCCCGAGGGGCTCGCCCGCTCCCGCCTCTGTCTTGTCGGCCTCCACCTGCAGCCCCGCGGCCCCCGCGCCCCGCGGGACCCGGACGGCGACGACGGGGGAATGTGGCGCTGGATCCGGCAGCAGCTG___GGTTTTGACCCACCACATCAGAGTGACACAAGAACCATCTACGTAGCCAACAGGTTTCCTCAGAATGGCCTTTACACACCTCAGAAATTTATAGATAACAGGATCATTTCATCTAAG___TACACTGTGTGGAATTTTGTTCCAAAAAATTTATTTGAACAGTTCAGAAGAGTGGCAAACTTTTATTTTCTTATTATATTTTTGGTTCAG___CTTATGATTGATACACCTACCAGTCCAGTTACCAGTGGACTTCCATTATTCTTTGTGATAACAGTAACTGCCATAAAGCAG___GGATATGAAGATTGGTTACGGCATAACTCAGATAATGAAGTAAATGGAGCTCCTGTTTATGTTGTTCGAAGTGGTGGCCTTGTAAAAACTAGATCAAAAAACATTCGG___GTGGGTGATATTGTTCGAATAGCCAAAGATGAAATTTTTCCTGCAGACTTGGTGCTTCTGTCCTCAGATCGACTGGATGGTTCCTGTCACGTTACAACTGCTAGTTTGGACGGAGAAACTAACCTGAAG___ACACATGTGGCAGTTCCAGAAACAGCATTATTACAAACAGTTGCCAATTTGGACACTCTAGTAGCTGTAATAGAATGCCAGCAACCAGAAGCAGACTTATACAG___ATTCATGGGACGAATGATCATAACCCAACAAATGGAAGAAATTGTAAG___ACCTCTGGGGCCGGAGAGTCTCCTGCTTCGTGGAGCCAGATTAAAAAACACAAAAGAAATTTTTG___GTGTTGCGGTATACACTGGAATGGAAACTAAGATGGCATTAAATTACAAGAGCAAATCACAGAAACGATCTGCAGTAGAAAA___GTCAATGAATACATTTTTGATAATTTATCTAGTAATTCTTATATCTGAAGCTGTCATCAGCACTATCTTGAAGTATACATGGCAAGCTGAAGAAAAATGGGATGAACCTTGGTATAACCAAAAAACAGAACATCAAAGAAATAGCAGTAAG___ATTCTGAGATTTATTTCAGACTTCCTTGCTTTTTTGGTTCTCTACAATTTCATCATTCCAATTTCATTATATGTGACAGTCGAAATGCAGAAATTTCTTGGATCATTTTTTATTGGCTGGGATCTTGATCTGTATCATGAAGAATCAGATCAGAAAGCTCAAGTCAATACTTCCGATCTGAATGAAGAGCTTGGACAG___GTAGAGTACGTGTTTACAGATAAAACTGGTACACTGACAGAAAATGAGATGCAGTTTCGGGAATGTTCAATTAATGGCATGAAATACCAAGAAATTAATGGTAGACTTGTACCCGAAGGACCAACACCAGACTCTTCAGAAGGAAACTTATCTTATCTTAGTAGTTTATCCCATCTTAACAACTTATCCCATCTTACAACCAGTTCCTCTTTCAGAACCAGTCCTGAAAATGAAACTGAACTA___ATTAAAGAACATGATCTCTTCTTTAAAGCAGTCAGTCTCTGTCACACTGTACAGATTAGCAATGTTCAAACTGACTGCACTGGTGATGGTCCCTGGCAATCCAACCTGGCACCATCGCAGTTGGAGTACTATGCATCTTCACCAGATGAAAAGGCTCTAGTAGAAGCTGCTGCAAG___GATTGGTATTGTGTTTATTGGCAATTCTGAAGAAACTATGGAGGTTAAAACTCTTGGAAAACTGGAACG___GTACAAACTGCTTCATATTCTGGAATTTGATTCAGATCGTAGGAGAATGAGTGTAATTGTTCAGGCACCTTCAG___GTGAGAAGTTATTATTTGCTAAAGGAGCTGAGTCATCAATTCTCCCTAAATGTATAGGTGGAGAAATAGAAAAAACCAGAATTCATGTAGATGAATTTGCTTTG___AAAGGGCTAAGAACTCTGTGTATAGCATATAGAAAATTTACATCAAAAGAGTATGAGGAAATAGATAAACGCATATTTGAAGCCAGGACTGCCTTGCAGCAGCGGGAAGAGAAATTGGCAGCTGTTTTCCAGTTCATAGAGAAAGACCTGATATTACTTGGAGCCACAGCAGTAGAAGACAG___ACTACAAGATAAAGTTCGAGAAACTATTGAAGCATTGAGAATGGCTGGTATCAAAGTATGGGTACTTACTGGGGATAAACATGAAACAGCTGTTAGTGTGAGTTTATCATGTGGCCATTTTCATAGAACCATGAACATCCTTGAACTTATAAACCAGAAATCAGACAGCGAGTGTGCTGAACAATTGAGGCAGCTTGCCAGAAG___AATTACAGAGGATCATGTGATTCAGCATGGGCTGGTAGTGGATGGGACCAGCCTATCTCTTGCACTCAGGGAGCATGAAAAACTATTTATGGAAGTTTGCAGAAATTGTTCAGCTGTATTATGCTGTCGTATGGCTCCACTGCAGAAAGCAAAA___GTAATAAGACTAATAAAAATATCACCTGAGAAACCTATAACATTGGCTGTTGGTGATGGTGCTAATGACGTAAGCATGATACAAGAAGCCCATGTTGGCATAG___GAATCATGGGTAAAGAAGGAAGACAGGCTGCAAGAAACAGTGACTATGCAATAGCCAGATTTAAGTTCCTCTCCAAATTGCTTTTTGTTCATGGTCATTTTTATTATATTAGAATAGCTACCCTTGTACAGTATTTTTTTTATAAG___AATGTGTGCTTTATCACACCCCAGTTTTTATATCAGTTCTACTGTTTGTTTTCTCAGCAA___ACATTGTATGACAGCGTGTACCTGACTTTATACAATATTTGTTTTACTTCCCTACCTATTCTGATATATAGTCTTTTGGAACAGCATGTAGACCCTCATGTGTTACAAAATAAGCCCACCCTTTATCG___AGACATTAGTAAAAACCGCCTCTTAAGTATTAAAACATTTCTTTATTGGACCATCCTGGGCTTCAGTCATGC)CTTTATTTTCTTTTTTGGATCCTATTTACTAATAGGGAAAGATACATCTCTGCTTGGAAATGGCCAG|ATTTATGAAATATTTCAACGAGATGTGACAATGAGAATGTGCTCAACTGTCTCCAGTGGTAAAAAGAAAGAAACCCTGATTCTATGACTGATGCAAGATATGTGAGTTTCTCACCTGCTGTCAGCATCCAGGCCGTATCTACCCTGTCCCTTTCACACCTGGGCAGAACTGTAAG___GAGCTCCGAGCCTGTGTCCCTGACTGTGGGAGGTTCCCCCATGAGGCTCTGA MWRWIRQQLGFDPPHQSDTRTIYVANRFPQNGLYTPQKFIDNRIISSKYTVWNFVPKNLFEQFRRVANFYFLIIFLVQLMIDTPTSPVTSGLPLFFVITVTAIKQGYEDWLRHNSDNEVNGAPVYVVRSGGLVKTRSKNIRVGDIVRIAKDEIFPADLVLLSSDRLDGSCHVTTASLDGETNLKTHVAVPETALLQTVANLDTLVAVIECQQPEADLYRFMGRMIITQQMEEIVRPLGPESLLLRGARLKNTKEIFGVAVYTGMETKMALNYKSKSQKRSAVEKSMNTFLIIYLVILISEAVISTILKYTWQAEEKWDEPWYNQKTEHQRNSSKILRFISDFLAFLVLYNFIIPISLYVTVEMQKFLGSFFIGWDLDLYHEESDQKAQVNTSDLNEELGQVEYVFTDKTGTLTENEMQFRECSINGMKYQEINGRLVPEGPTPDSSEGNLSYLSSLSHLNNLSHLTTSSSFRTSPENETELIKEHDLFFKAVSLCHTVQISNVQTDCTGDGPWQSNLAPSQLEYYASSPDEKALVEAAARIGIVFIGNSEETMEVKTLGKLERYKLLHILEFDSDRRRMSVIVQAPSGEKLLFAKGAESSILPKCIGGEIEKTRIHVDEFALKGLRTLCIAYRKFTSKEYEEIDKRIFEARTALQQREEKLAAVFQFIEKDLILLGATAVEDRLQDKVRETIEALRMAGIKVWVLTGDKHETAVSVSLSCGHFHRTMNILELINQKSDSECAEQLRQLARRITEDHVIQHGLVVDGTSLSLALREHEKLFMEVCRNCSAVLCCRMAPLQKAKVIRLIKISPEKPITLAVGDGANDVSMIQEAHVGIGIMGKEGRQAARNSDYAIARFKFLSKLLFVHGHFYYIRIATLVQYFFYKNVCFITPQFLYQFYCLFSQQTLYDSVYLTLYNICFTSLPILIYSLLEQHVDPHVLQNKPTLYRDISKNRLLSIKTFLYWTILGFSHAFIFFFGSYLLIGKDTSLLGNGQ|iyeifqrdvtmrmcstvssgkkketlil* 01BR020 ENSG00000058063.16 ENSG00000279429.1(30693),ENSG00000233830.2(14579) +/+ ./- chr3:182889548 chr7:27443584 CDS/splice-site intergenic translocation 0 2 0 31 5 medium out-of-frame . Cation_transport_ATPase_(P-type)(100%),E1-E2_ATPase(100%),Phospholipid-translocating_ATPase_N-terminal(100%),Phospholipid-translocating_P-type_ATPase_C-terminal(100%)| . . ENSG00000058063.16 . ENST00000323116.10 . downstream downstream . ^(AATAATGAAGGTGGCTGCGGCGCGGCGGCAGGCTCAGCTGCGCCGGGCGGGGGCGGCGCCGGGGCCGCGCCTGTAGGACTCGGGGCCGACGCCGCGGGATGGGGACGCGGCGCGGGGAGTGAGGCAGTGGCGGCGGCGGCGGTAAGCGGAACTTCGGCCCGAGGGGCTCGCCCGCTCCCGCCTCTGTCTTGTCGGCCTCCACCTGCAGCCCCGCGGCCCCCGCGCCCCGCGGGACCCGGACGGCGACGACGGGGGAATGTGGCGCTGGATCCGGCAGCAGCTG___GGTTTTGACCCACCACATCAGAGTGACACAAGAACCATCTACGTAGCCAACAGGTTTCCTCAGAATGGCCTTTACACACCTCAGAAATTTATAGATAACAGGATCATTTCATCTAAG___TACACTGTGTGGAATTTTGTTCCAAAAAATTTATTTGAACAGTTCAGAAGAGTGGCAAACTTTTATTTTCTTATTATATTTTTGGTTCAG___CTTATGATTGATACACCTACCAGTCCAGTTACCAGTGGACTTCCATTATTCTTTGTGATAACAGTAACTGCCATAAAGCAG___GGATATGAAGATTGGTTACGGCATAACTCAGATAATGAAGTAAATGGAGCTCCTGTTTATGTTGTTCGAAGTGGTGGCCTTGTAAAAACTAGATCAAAAAACATTCGG___GTGGGTGATATTGTTCGAATAGCCAAAGATGAAATTTTTCCTGCAGACTTGGTGCTTCTGTCCTCAGATCGACTGGATGGTTCCTGTCACGTTACAACTGCTAGTTTGGACGGAGAAACTAACCTGAAG___ACACATGTGGCAGTTCCAGAAACAGCATTATTACAAACAGTTGCCAATTTGGACACTCTAGTAGCTGTAATAGAATGCCAGCAACCAGAAGCAGACTTATACAG___ATTCATGGGACGAATGATCATAACCCAACAAATGGAAGAAATTGTAAG___ACCTCTGGGGCCGGAGAGTCTCCTGCTTCGTGGAGCCAGATTAAAAAACACAAAAGAAATTTTTG___GTGTTGCGGTATACACTGGAATGGAAACTAAGATGGCATTAAATTACAAGAGCAAATCACAGAAACGATCTGCAGTAGAAAA___GTCAATGAATACATTTTTGATAATTTATCTAGTAATTCTTATATCTGAAGCTGTCATCAGCACTATCTTGAAGTATACATGGCAAGCTGAAGAAAAATGGGATGAACCTTGGTATAACCAAAAAACAGAACATCAAAGAAATAGCAGTAAG___ATTCTGAGATTTATTTCAGACTTCCTTGCTTTTTTGGTTCTCTACAATTTCATCATTCCAATTTCATTATATGTGACAGTCGAAATGCAGAAATTTCTTGGATCATTTTTTATTGGCTGGGATCTTGATCTGTATCATGAAGAATCAGATCAGAAAGCTCAAGTCAATACTTCCGATCTGAATGAAGAGCTTGGACAG___GTAGAGTACGTGTTTACAGATAAAACTGGTACACTGACAGAAAATGAGATGCAGTTTCGGGAATGTTCAATTAATGGCATGAAATACCAAGAAATTAATGGTAGACTTGTACCCGAAGGACCAACACCAGACTCTTCAGAAGGAAACTTATCTTATCTTAGTAGTTTATCCCATCTTAACAACTTATCCCATCTTACAACCAGTTCCTCTTTCAGAACCAGTCCTGAAAATGAAACTGAACTA___ATTAAAGAACATGATCTCTTCTTTAAAGCAGTCAGTCTCTGTCACACTGTACAGATTAGCAATGTTCAAACTGACTGCACTGGTGATGGTCCCTGGCAATCCAACCTGGCACCATCGCAGTTGGAGTACTATGCATCTTCACCAGATGAAAAGGCTCTAGTAGAAGCTGCTGCAAG___GATTGGTATTGTGTTTATTGGCAATTCTGAAGAAACTATGGAGGTTAAAACTCTTGGAAAACTGGAACG___GTACAAACTGCTTCATATTCTGGAATTTGATTCAGATCGTAGGAGAATGAGTGTAATTGTTCAGGCACCTTCAG___GTGAGAAGTTATTATTTGCTAAAGGAGCTGAGTCATCAATTCTCCCTAAATGTATAGGTGGAGAAATAGAAAAAACCAGAATTCATGTAGATGAATTTGCTTTG___AAAGGGCTAAGAACTCTGTGTATAGCATATAGAAAATTTACATCAAAAGAGTATGAGGAAATAGATAAACGCATATTTGAAGCCAGGACTGCCTTGCAGCAGCGGGAAGAGAAATTGGCAGCTGTTTTCCAGTTCATAGAGAAAGACCTGATATTACTTGGAGCCACAGCAGTAGAAGACAG___ACTACAAGATAAAGTTCGAGAAACTATTGAAGCATTGAGAATGGCTGGTATCAAAGTATGGGTACTTACTGGGGATAAACATGAAACAGCTGTTAGTGTGAGTTTATCATGTGGCCATTTTCATAGAACCATGAACATCCTTGAACTTATAAACCAGAAATCAGACAGCGAGTGTGCTGAACAATTGAGGCAGCTTGCCAGAAG___AATTACAGAGGATCATGTGATTCAGCATGGGCTGGTAGTGGATGGGACCAGCCTATCTCTTGCACTCAGGGAGCATGAAAAACTATTTATGGAAGTTTGCAGAAATTGTTCAGCTGTATTATGCTGTCGTATGGCTCCACTGCAGAAAGCAAAA___GTAATAAGACTAATAAAAATATCACCTGAGAAACCTATAACATTGGCTGTTGGTGATGGTGCTAATGACGTAAGCATGATACAAGAAGCCCATGTTGGCATAG___GAATCATGGGTAAAGAAGGAAGACAGGCTGCAAGAAACAGTGACTATGCAATAGCCAGATTTAAGTTCCTCTCCAAATTGCTTTTTGTTCATGGTCATTTTTATTATATTAGAATAGCTACCCTTGTACAGTATTTTTTTTATAAG___AATGTGTGCTTTATCACACCCCAGTTTTTATATCAGTTCTACTGTTTGTTTTCTCAGCAA___ACATTGTATGACAGCGTGTACCTGACTTTATACAATATTTGTTTTACTTCCCTACCTATTCTGATATATAGTCTTTTGGAACAGCATGTAGACCCTCATGTGTTACAAAATAAGCCCACCCTTTATCG___AGACATTAGTAAAAACCGCCTCTTAAGTATTAAAACATTTCTTTATTGGACC)ATCCTGGGCTTCAGTCATGCCTTTATTTTCTTTTTTGGATCCTATTTACTAATAGGGAAAGATACATCTCTGCTTGGAAATGGCCAG|TTTCAGGCATCCACTGGAGGTCTTGGAACATATCCCCCGTGGATAAGGGGGGACTACTGTAATAAAAAGACAATCCAGTTGAAAGATTGGCAATGAATTTGAATCAACATTTCTCCTAAGAAGATACACAAATGGCCAACAAGCCCATGAAAAGATGCTCAACATCACTAGCAGTTAGAGAAA MWRWIRQQLGFDPPHQSDTRTIYVANRFPQNGLYTPQKFIDNRIISSKYTVWNFVPKNLFEQFRRVANFYFLIIFLVQLMIDTPTSPVTSGLPLFFVITVTAIKQGYEDWLRHNSDNEVNGAPVYVVRSGGLVKTRSKNIRVGDIVRIAKDEIFPADLVLLSSDRLDGSCHVTTASLDGETNLKTHVAVPETALLQTVANLDTLVAVIECQQPEADLYRFMGRMIITQQMEEIVRPLGPESLLLRGARLKNTKEIFGVAVYTGMETKMALNYKSKSQKRSAVEKSMNTFLIIYLVILISEAVISTILKYTWQAEEKWDEPWYNQKTEHQRNSSKILRFISDFLAFLVLYNFIIPISLYVTVEMQKFLGSFFIGWDLDLYHEESDQKAQVNTSDLNEELGQVEYVFTDKTGTLTENEMQFRECSINGMKYQEINGRLVPEGPTPDSSEGNLSYLSSLSHLNNLSHLTTSSSFRTSPENETELIKEHDLFFKAVSLCHTVQISNVQTDCTGDGPWQSNLAPSQLEYYASSPDEKALVEAAARIGIVFIGNSEETMEVKTLGKLERYKLLHILEFDSDRRRMSVIVQAPSGEKLLFAKGAESSILPKCIGGEIEKTRIHVDEFALKGLRTLCIAYRKFTSKEYEEIDKRIFEARTALQQREEKLAAVFQFIEKDLILLGATAVEDRLQDKVRETIEALRMAGIKVWVLTGDKHETAVSVSLSCGHFHRTMNILELINQKSDSECAEQLRQLARRITEDHVIQHGLVVDGTSLSLALREHEKLFMEVCRNCSAVLCCRMAPLQKAKVIRLIKISPEKPITLAVGDGANDVSMIQEAHVGIGIMGKEGRQAARNSDYAIARFKFLSKLLFVHGHFYYIRIATLVQYFFYKNVCFITPQFLYQFYCLFSQQTLYDSVYLTLYNICFTSLPILIYSLLEQHVDPHVLQNKPTLYRDISKNRLLSIKTFLYWTILGFSHAFIFFFGSYLLIGKDTSLLGNGQ|fqastgglgtyppwirgdycnkktiqlkdwq* 01BR023 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 25 28 2 119 82 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(4),low_entropy(1),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAG)GAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 01BR023 ENSG00000162851.8 ENSG00000162852.14 -/- +/- chr1:246564346 chr1:246568130 CDS/splice-site intron duplication/5'-5' 30 16 0 159 36 high out-of-frame . Ribosomal_RNA_adenine_dimethylase(100%)| . . ENSG00000162851.8 ENSG00000162852.14 ENST00000366514.5 . upstream downstream inconsistently_clipped(2),mismappers(1),mismatches(1) ^(AGTGTTTACTTCCGCTTGACCTGGCCCGGACGCCAGAAAATGTTCCACGTGGGATACCCTGCGTGGGGTTCACTGTAGTAGCTGCACTAGGTGATTCTTGGAGCGGGCCTGAGAGACAAGGACATGTGGATCCCAGTGGTCGGGCTTCCTCGGCGGCTGAGGCTCTCCGCCTTGGCGGGCGCTGGTCGCTTTTGCATTTTAGGGTCTGAAGCGGCGACGCGAAAGCATTTGCCGGCGAGGAACCACTGTGGGCTCTCTGACT)CCTCTCCGCAGCTGTGGCCCGAACCGGATTTCAGGAATCCGCCAAGGAAGGCGTCTAAGGCCAGCTTAGACTTTAAGCGTTACGTAACCGATCGGAGATTGGCTGAGACCCTGGCGCAAATCTATTTGGGAAAACCAAGTAGACCTCCACACCTACTGCTGGAGTGCAATCCAG___GTCCTGGAATCCTGACTCAGGCATTACTTGAAGCTGGTGCCAAAGTGGTTGCGCTCGAAAGTGACAAAACTTTTATTCCACATTTGGAG|GAGACAGAGTCTATGTTGCCCAGTCTGGCTTCGAACTCCCGGCAGCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACTACCATACCCAGCCACCACAGTGTTTTTTTTtAAAAGTCAGAAATTCAACGACACATTTCTATGAGTGAACCATGAAG MWIPVVGLPRRLRLSALAGAGRFCILGSEAATRKHLPARNHCGLSDSSPQLWPEPDFRNPPRKASKASLDFKRYVTDRRLAETLAQIYLGKPSRPPHLLLECNPGPGILTQALLEAGAKVVALESDKTFIPHLE|etesmlpslasnsrqqvilppwppkvlglqa* 01BR023 ENSG00000149262.17 ENSG00000110435.12(122925),ENSG00000255521.2(13602) -/- ./+ chr11:77991108 chr11:35119053 CDS/splice-site intergenic inversion 16 15 1 63 106 high out-of-frame . . . . ENSG00000149262.17 . ENST00000534064.6 . upstream upstream duplicates(1),mismatches(1) ^(AAGCTGAGAGGGCCCGCGGGTAGGCATGGCGGCGCACCTTAAGAAGCGGGTTTATGAGGAATTCACGAAAGTGGTT)CAG___CCACAGGAGGAAATTGCTACTAAGAAACTCCGACTAACAAAACCAAGTAAATCTGCAGCACTCCACATAGATCTGTGTAAAGCTACCTCCCCAGCAGATGCTTTGCAATACTTGCTCCAGTTTGCCAGGAAGCCTGTCGAGGCGGAAAGCGTAGAGGGAGTAGTCAGGATTCTCTTGGAACATTATTACAAG|GTGCAGCTGACAGCCAGCTTGCAACCACAAGGATGGCCACCATGAAGTCAAAGGAGAACTGAGAGAAGAACCAAGAAACAGACCAGGAACCCTGACCGAACTGCTCTGAAAAGCCCCTGCTTCTGGACTCCATTGTGTAAAATACATTTCCCCGTTGCCTAAGCCTGGTCAAGACATACTTTTGTTACTTGCAGCTAAAAGAATCCCAGCGGATATATTCATCTTTCCAGCTTTATCTCCAGC MAAHLKKRVYEEFTKVVQPQEEIATKKLRLTKPSKSAALHIDLCKATSPADALQYLLQFARKPVEAESVEGVVRILLEHYYK|vqltaslqpqgwpp* 01BR023 ENSG00000158636.16 ENSG00000110435.12(22042),ENSG00000255521.2(114485) +/+ ./- chr11:76464080 chr11:35018170 CDS/splice-site intergenic inversion 19 11 1 70 39 high out-of-frame . ENT_domain(100%)| . . ENSG00000158636.16 . ENST00000334736.7 . downstream downstream mismatches(1) ^(GTCGCCATCTTGCCCCTTCAGAGGCACCGCAAACAAACCCAATTCCTGGTGTCCCCTAGTCTTGGCGGAGGAGCCTTTTAGATGAGCCCCGAAAGGCCGGGCAG___GGAGGACAAGCTCTTTGGGGCTACCAAACAGAAGCAGCAATGCCTGTTGTGTGGCCAACCCTTCTGGATCTCAGCAGGGATGAATGCAAAAGAATTCTTCGAAAATTGG___AATTGGAGGCATATGCTGGAGTTATCAGTGCACTTCGGGCACAGGGGGATCTCACCAAGGAAAAGAAAGATCTTCTTGGAGAACTATCAAAAGTTCTTAG___CATCTCAACAGAACGCCACCGTGCTGAAGTTCGGAGAGCAGTAAACGATGAACGGTTAACAACAATTGCACATAA___TATGTCTGGACCTAATAGCTCTTCAGAATGGTCCATTGAAGGTCGTCGATTGGTACCACTGATGCCCCGGCTCGTTCCCCAAACCGCCTTTACTGTAACAGCTAATGCTGTTGCTAATGCAGCTATCCAGCATAATGCATCTCTTCCAGTGCCTGCAGAAACAGGAAGCAAGGAAG___TGGTTTGCTATTCCTACACAAGTACCACGTCAACCCCAACCTCTACCCCTGTTCCAAGTGGCAGCATAGCAACGGTTAAGTCTCCAAGACCTGCCAGTCCTGCCTCCAATGTAGTTGTCTTGCCAAGTG)GAAGTACTGTTTATGTCAAAA___GTGTAAGCTGTTCAGATGAAGATGAAAAACCCAGAAAACGAAGGCGAACAAACTCTTCCAGCTCCTCTCCTGTTGTTCTAAAGGAAGTTCCAAAGGCCGTTGTTCCAGTCTCAAAGACGATCACTGTGCCTGTGAGTGGTAGTCCCAAGATGAGCAACATCATGCAGAGCATTGCCAACTCCTTACCACCCCACATGTCTCCTGTAAAAATAACCTTCACTAAACCATCAACACAGACAACAAACACAACAACACAGAAG|AGCTTTGAACCCTGAACCCAGCATTCTGAGAGTGGGAACCAGAAATGTGCATTTGAAAAGACTCCCCAGGCAATTCTGATGAGGAGCCAGTGAGCCTGCTGAACCAGGTGACTACTGACATCTCTTCTTTGAGTGACTTTCGACCATCCCACAAATGTCTGCTCGACGGTGTCCTGGAAGAGCTGGGTCATGGCTCTCATTACACACTACTCAGCATCATACACCAGGTTGTATCACACATCTCATTCACAC MPVVWPTLLDLSRDECKRILRKLELEAYAGVISALRAQGDLTKEKKDLLGELSKVLSISTERHRAEVRRAVNDERLTTIAHNMSGPNSSSEWSIEGRRLVPLMPRLVPQTAFTVTANAVANAAIQHNASLPVPAETGSKEVVCYSYTSTTSTPTSTPVPSGSIATVKSPRPASPASNVVVLPSGSTVYVKSVSCSDEDEKPRKRRRTNSSSSSPVVLKEVPKAVVPVSKTITVPVSGSPKMSNIMQSIANSLPPHMSPVKITFTKPSTQTTNTTTQK|sfep* 01BR023 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 13 0 28 38 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1),mismappers(1),mismatches(1) GAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCgTGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAG(GACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR023 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 9 0 13 22 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream . GGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTC(ACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 01BR023 ENSG00000066777.9 ENSG00000181995.12 -/- +/+ chr8:67211483 chr11:60653689 CDS/splice-site exon/splice-site translocation 4 6 0 388 13 high out-of-frame . Dimerisation_and_cyclophilin-binding_domain_of_Mon2(100%),Domain_of_unknown_function_(DUF1981)(100%),Guanine_nucleotide_exchange_factor_in_Golgi_transport_N-terminal(100%),Sec7_domain(100%)| . . ENSG00000066777.9 ENSG00000181995.12 ENST00000262215.8 ENST00000646374.1 upstream upstream . ^(GTTTCCTCCCAACATGGCGGCCGGGGCAGGTCGGCGGTGATGGGGGCCAGTTCGCGGCCGCGGCGGGTGCTAATCCCCACAGTAGCCAGGGTAGCCCTTCTCTCGCGGTGCCTCTGAGAGCCGCCGCCACCTCGTCCCTCAGTTCCCGGCAGACAGCCGCCCGGGCCGGGCTCCCTCACCGCCACCAGGGCCGGAGGGACGAGTGAGAGGGGCGGCCGGGACGCGACCCCCGGGCCGGGAGAAGCGGAGGCCCGACGGGCGCGGCCCTCGAGGTACGGCTTCTTGGGGGCGGCGAGGACCTCGACGCCCTTCGCCGACACCGCGGCTGGTCCCGCTCGCCCGCCCCTTCCTGATCCTGCCGCTGCCCTCCACGCCTCCAATCCCCCACCTCCACCCCCTCTCCTTTCTCTCTTCTCTTCCTTCCTCTCCTCCTCCTCCCCTCCAGCCGCTGGGAGCCGCGGGTCGGACGAGCCGCCGCCTCCTTCTCTGCGTCCATGTATGAGGGGAAGAAGACGAAGAACATGTTCCTGACCCGGGCTCTGGAGAAGATATTGGCCGACAAGGAAGTGAAGAAGGCGCATCACTCCCAGCTGCGCAAAGCTTGCGAGGTGGCGTTAG___AGGAAATAAAAGCGGAAACTGAAAAACAGAG___TCCTCCTCATGGAGAAGCAAAAGCTGGATCAAGCACCCTTCCACCAGTGAAATCAAAGACAAATTTTATTGAAGCAGACAAGTACTTCTTGCCTTTTGAGTTGGCATGCCAGTCCAAATGTCCTCGCATAGTTAGTACATCTCTAGATTGCTTACAG___AAACTTATTGCTTATGGGCACTTGACTGGCAATGCTCCAGATAGTACAACACCAGGCAAAAAATTAATTGATAGAATTATTGAAACAATATGTGGCTGCTTTCAGGGCCCTCAGACAGATGAAGGAGTTCAGCTGCAGATAATAAAG___GCTTTACTTACTGCAGTAACATCACAACACATAGAAATTCATGAAGGGACTGTACTGCAAGCTGTGAGAACATGTTACAATATCTACTTAGCAAGCAAAAATCTCATCAATCAGACAACAGCCAAAGCTACTCTCACTCAGATGCTAAATGTTATCTTTGCACGCATGGAAAACCAAGCA___TTACAGGAAGCAAAACAAATGGAAAAAGAAAGGCATCGGCAGCATCATCATCTGTTACAGTCTCCAGTAAGCCATCACGAGCCTGAATCACCTCAACTTAGATATTTGCCACCTCAGACTGTTGATCATATATCCCAAGAACACGAAGGGGACCTTGACCTCCATACAAATGATGTAGATAAAAGTCTTCAGGATGACACAGAGCCTGAAAATGGATCTGATATTTCCAGTGCAGAAAATGAACAGACTGAAGCTGATCAGGCAACTGCAGCTGAAA___CATTATCTAAAAATGAAGTGTTATATGACGGAGAAAACCATGATTGTGAGGAAAAGCCACAAGACATTGTACAGAACATTGTAGAAGAAATGGTGAACATTGTTGTTGGAG___ATATGGGAGAAGGGACTACTATAAATGCAAGTGCAGATGGCAACATTGGAACTATAGAGGATGGTAGTGACAGTGAAAATATTCAAGCAAATGGAATTCCAGGAACACCAATTTCTGTTGCATATACACCATCCTTACCTGATGATAGATTGTCAGTCTCTTCCAATGATACTCAG___GAATCTGGAAATTCTTCAGGACCTTCACCTGGTGCTAAGTTTTCCCACATTTTACAAAAGGATGCCTTTCTAGTATTCAGGTCATTGTGTAAACTGTCAATGAAACCACTGTCAGATGGACCACCAGATCCAAA___GTCTCATGAACTACGATCCAAGATTCTTTCATTGCAGTTACTTCTATCCATTCTGCAGAATGCAGGACCTATTTTCAGGACAAATGAGATGTTTATTAATGCTATTAAGCAGTATCTTTGTGTTGCACTCTCAAAAAATGGAGTCTCATCTGTTCCAGAGGTTTTTGAGCTTTCTCTTTCTATATTTCTTACTTTGTTGTCAAATTTCAAGACACATCTGAAGATGCAAATTGAG___GTGTTCTTTAAAGAAATTTTCTTATACATTTTGGAAACTTCTACCAGCTCATTTGATCACAAATGGATGGTTATTCAGACACTGACGAGGATTTGTGCAG___ATGCTCAGAGTGTAGTGGATATTTATGTAAACTATGACTGTGACTTAAATGCAGCCAATATATTTGAAAGACTAGTAAATGATCTATCAAAAATTGCTCAAGGAAGGGGCAGTCAAGAACTTGGTATGAGTAATGTTCAG___GAATTGAGCCTGAGGAAAAAAGGTTTAGAATGCTTAGTGTCGATTTTGAAGTGTATGGTTGAATGGAGTAAGGATCAGTATGTGAATCCCAACTCCCAGACAACTCTTG___GTCAGGAAAAACCCTCAGAGCAAGAGATGAGTGAAATCAAACACCCTGAGACAATAAACAGATACGGAAGTTTAAATTCCCTGGAGTCAACATCATCATCAGGAATAGGCAGCTACAGTACACAGATGTCTGGCACTGATAATCCAGAACAATTTGAGGTCCTAAAGCAACAAAAAGAAATAATAGAACAAGGGATAGATTT___ATTTAATAAGAAACCAAAGAGAGGAATACAGTACCTCCAAGAACAAGGGATGCTTGGCACCACACCTGAAGATATTGCCCAATTCTTACATCAAGAGGAAAGATTAGACTCT___ACTCAAGTGGGTGAGTTCCTGGGAGATAATGATAAATTTAACAAAGAAGTCATGTATGCATATGTGGACCAACATGACTTTTCAGGAAAAGACTTCGTTTCAGCCCTTCGTATGTTTCTAGAAGGATTTCGTCTTCCAGGGGAAGCTCAGAAAATCGATCGATTAATGGAAAAATTTGCTGCAAGATACCTAGAATGCAACCAAGG___ACAAACTCTCTTTGCTAGTGCGGATACAGCTTATGTTTTGGCTTATTCAATTATCATGTTGACCACAGACCTTCACAGTCCACAG___GTGAAAAATAAAATGACAAAGGAACAATACATTAAGATGAATAGAGGTATCAATGACAGTAAAGACCTTCCTGAAGAGTATCTATCAGCCATCTATAATGAAATAGCTGGGAAAAAGATATCAATGAAAGAAACAAAAGAACTAACAATCCCTACAAAATCAAGTAAACAGA___ATGTAGCCAGTGAAAAACAAAGAAGACTTCTGTATAACTTAGAAATGGAGCAGATGGCCAAGACAGCTAAAGCACTCATGGAGGCCGTGAGCCATGTTCAGGCACCCTTTACAAGTGCAACACATTTGGAGCATGTGAGGCCCATGTTTAAG___TTGGCTTGGACGCCTTTTCTGGCTGCATTCAGTGTGGGTCTACAAGATTGTGATGATACTGAAGTAGCCTCTCTTTGCCTGGAAGGTATAAGATGTGCAATCAGAATTGCATGCATTTTCAGCATTCAG___CTGGAGAGAGATGCATATGTCCAGGCACTAGCAAGATTTACCTTACTCACAGTGAGTTCCGGTATTACTGAAATGAAACAGAAGAACATTGACACAATAAAAACACTTATCACAGTGGCTCATACAGATGGAAATTATTTAGGAAATTCATGGCATGAG___ATTCTGAAGTGCATCAGTCAGTTGGAGCTGGCACAGCTTATAGGAACTGGAGTGAAACCTCGATACATTTCTGGAACAGTGCGAGGCAGAGAAGGATCTCTTACTGGAACAAAAGATCAGGCTCCTGATGAATTTGTGGGTTTAGGGCTAG___TTGGAGGAAATGTGGACTGGAAACAGATAGCAAGTATTCAGGAATCCATTGGAGAAACCAGTTCTCAGAGTGTTGTTGTTGCTGTAGATAG___AATATTCACAGGATCTACAAGGCTAGATGGAAATGCCATTG___TGGATTTTGTCCGTTGGCTCTGTGCTGTGTCTATGGATGAATTACTTTCCACGACACACCCAAGAATGTTTAGTCTACAAAAAATAGTAGAAATATCATATTACAACATGGGAAGAATAAGATTACAGTGGTCTCGAATTTGGGAAGTTATTGGAGATCATTTTAATAAG___GTTGGGTGTAATCCTAATGAAGATGTAGCTATTTTTGCAGTAGACTCCTTGAGGCAGTTGTCAATGAAGTTCTTAGAGAAAGGGGAGCTTGCTAACTTCAGATTCCAGAAGGATTTCTTAAGACCTTTTGAACATATAATGAAACGGAACAG___GTCTCCAACAATTCGAGATATGGTTGTACGGTGTATAGCACAGATGGTTAATTCTCAAGCTGCTAACATTCGATCTGGATGGAAGAACATTTTCTCTGTATTTCATCTAGCTGCATCTGATCAAGATGAAAGCATAGTGGAACTTGCATTCCAAACAACCGGGCACATTGTCA___CCCTTGTATTTGAAAAACACTTTCCAGCGACCATTGATTCTTTCCAGGATGCAGTGAAGTGTTTGTCTGAATTTGCGTGCAATGCAGCTTTCCCAGACACAAGTATGGAAGCAATTCGACTTATTCGCCATTGTGCAAAATATGTGTCTGATAGACCTCAG___GCTTTCAAGGAATACACAAGCGATGATATGAACGTAGCACCTGAAGACAGGGTGTGGGTGAGAGGATGGTTCCCAATTCTCTTTGAGTTATCCTGTATCATCAATAGATGCAAATTAGATGTAAGAACCAG___GGGTTTAACAGTAATGTTTGAAATAATGAAAACATATGGCCACACTTATGAGAAACACTGGTGGCAGGATTTATTTAGAATTGTTTTCAGAATCTTTGACAATATGAAATTGCCAGAACAACAGACAGAG___AAAGCTGAATGGATGACAACAACTTGCAATCATGCACTTTATGCAATCTGTGATGTATTCACTCAGTATTTAGAAGTACTCAGTGATGTACTTTTGGATGACATTTTTGCTCAGCTCTACTGGTGTGTGCAGCAAG___ACAATGAGCAGTTAGCGCGATCTGGTACAAACTGTTTAGAGAATGTTGTTATTCTGAATGGTGAAAAATTTACCCTAGAAATCTGGGATAAAACTTGCAACTGCACACTGGATATCTTCAAAACCACAATCCCACATGC___GCTGTTGACCTGGCGA)CCCAATTCTGGAGAAACTGCCCCCCCACCTCCATCTCCT___GATACAATATCACAGAAGTCTGTAGATATTCATGATTCTATTCAACCAAGGTCTGTGGATAACAGACCACAAGCACCACTGGTTTCTGCGTCTGCTGTTAATGAAGAAGTCAGCAAAATTAAATCTACAGCAA|CAAAGGAGTCCATTCATCCTCTATAACTGCTATACAATATCTCTGTTAAAATGCTGAGAAGATTTATCCTAAAAGAAGGCACCAAAGCAATGGGG(___CAAGAGGAATTTTCCAGAAGACTGCCTTCAAGCTTCATCTGCACCATCAGCTCTTCCGTATCTCCAGCCTGCTGGCCCACACTATAAATTTTGGACTTGCCAGCCAAAATTTACAGAGTACATGTACAGATACAGAGTAAATCAAAACGACTGAGGCAAGTCTAAATCATTTTAAGATGTTTGTTTGCCAAGGTTAAGGACATGCCTGAGAAAGAACCCAGAACCACAGGGAAAATTGTGACCCATACTTTTTCTGAAGAGGGTCTGGAGACCTCAGTATTCAAAGGCAAAAGCGCAG___GCTGTGCAAATAATGATTGGCCTGATTCACAGTGCACTGGGAACTCTCTGAATTCATTGGATTTTGCTAAGAGAGGATTCAAGTGGTTCTGGTCCTATCCCTATAATTGCTGTAGTAATTTACTCATTTTTGTCATTATTTTTT___TTCATCAACTCAGGATCCAGTAGTGTAATACAGAAGCCTGTTACGAGATATAAG___GCACTTTGCCCTCGGAAATCTCACTGTCGGAATCCTTGGAAATCACACCACGCACAACTTCTATTTCTTCATAATTTGCAAAGAACCAGTGTGACTCCAGTCAAGAACAAAAGATTAATTGTGAATTAGCGAAGAACTCTAATTTTTTCAAGCAGCCACATGGAAAACGCATTCTAATGAAATCCTTTCCATTGCTCTTTTTTCTTAGTTCTTCAATAAAGCATGCGATTTGATCACAAATTGACTCTTCCCTTTTTAAAAGCCAGTATGGGTTAACACGGATAAATATAGCCCCTGCAATCCCTGTGGTTGAAGGGATGTAGGAGAGTAGTGTTGAATGCCCACTTTATCTT)$ MYEGKKTKNMFLTRALEKILADKEVKKAHHSQLRKACEVALEEIKAETEKQSPPHGEAKAGSSTLPPVKSKTNFIEADKYFLPFELACQSKCPRIVSTSLDCLQKLIAYGHLTGNAPDSTTPGKKLIDRIIETICGCFQGPQTDEGVQLQIIKALLTAVTSQHIEIHEGTVLQAVRTCYNIYLASKNLINQTTAKATLTQMLNVIFARMENQALQEAKQMEKERHRQHHHLLQSPVSHHEPESPQLRYLPPQTVDHISQEHEGDLDLHTNDVDKSLQDDTEPENGSDISSAENEQTEADQATAAETLSKNEVLYDGENHDCEEKPQDIVQNIVEEMVNIVVGDMGEGTTINASADGNIGTIEDGSDSENIQANGIPGTPISVAYTPSLPDDRLSVSSNDTQESGNSSGPSPGAKFSHILQKDAFLVFRSLCKLSMKPLSDGPPDPKSHELRSKILSLQLLLSILQNAGPIFRTNEMFINAIKQYLCVALSKNGVSSVPEVFELSLSIFLTLLSNFKTHLKMQIEVFFKEIFLYILETSTSSFDHKWMVIQTLTRICADAQSVVDIYVNYDCDLNAANIFERLVNDLSKIAQGRGSQELGMSNVQELSLRKKGLECLVSILKCMVEWSKDQYVNPNSQTTLGQEKPSEQEMSEIKHPETINRYGSLNSLESTSSSGIGSYSTQMSGTDNPEQFEVLKQQKEIIEQGIDLFNKKPKRGIQYLQEQGMLGTTPEDIAQFLHQEERLDSTQVGEFLGDNDKFNKEVMYAYVDQHDFSGKDFVSALRMFLEGFRLPGEAQKIDRLMEKFAARYLECNQGQTLFASADTAYVLAYSIIMLTTDLHSPQVKNKMTKEQYIKMNRGINDSKDLPEEYLSAIYNEIAGKKISMKETKELTIPTKSSKQNVASEKQRRLLYNLEMEQMAKTAKALMEAVSHVQAPFTSATHLEHVRPMFKLAWTPFLAAFSVGLQDCDDTEVASLCLEGIRCAIRIACIFSIQLERDAYVQALARFTLLTVSSGITEMKQKNIDTIKTLITVAHTDGNYLGNSWHEILKCISQLELAQLIGTGVKPRYISGTVRGREGSLTGTKDQAPDEFVGLGLVGGNVDWKQIASIQESIGETSSQSVVVAVDRIFTGSTRLDGNAIVDFVRWLCAVSMDELLSTTHPRMFSLQKIVEISYYNMGRIRLQWSRIWEVIGDHFNKVGCNPNEDVAIFAVDSLRQLSMKFLEKGELANFRFQKDFLRPFEHIMKRNRSPTIRDMVVRCIAQMVNSQAANIRSGWKNIFSVFHLAASDQDESIVELAFQTTGHIVTLVFEKHFPATIDSFQDAVKCLSEFACNAAFPDTSMEAIRLIRHCAKYVSDRPQAFKEYTSDDMNVAPEDRVWVRGWFPILFELSCIINRCKLDVRTRGLTVMFEIMKTYGHTYEKHWWQDLFRIVFRIFDNMKLPEQQTEKAEWMTTTCNHALYAICDVFTQYLEVLSDVLLDDIFAQLYWCVQQDNEQLARSGTNCLENVVILNGEKFTLEIWDKTCNCTLDIFKTTIPHALLTWRPNSGETAPPPPSPDTISQKSVDIHDSIQPRSVDNRPQAPLVSASAVNEEVSKIKSTA|tkesihpl* 01BR023 ENSG00000110367.13 ENSG00000255422.3 -/- +/+ chr11:118790887 chr11:118708382 5'UTR exon/splice-site inversion 1 9 0 7 182 high out-of-frame . . . . ENSG00000110367.13 ENSG00000255422.3 ENST00000620157.4 ENST00000646572.1 upstream upstream . ^ATTTTGGGAGCTTCGAGTCAACAATAAAGGACCGAGGGTGCCGAGCGGGAGTGGCCTCGTTG|GCCCCAGGACCTCCAGCGTCAATGTTGTGGGATGATGGGTGACAGAGCCAAAGCATCGCCATCTTGGACAAGCACGGTCATTCTGAAGTTCCCCTTGATCAAAAACTGCCTAAACCCAAAGGATATCAGCCTGATGGCTAAGGTCAGCATGACCATAAACCATAAATAACATCTCTG(ACCAGGAACATTCCAAACCCCTCCATGAGACATGCCAGCCCTGAGATAACCTCCCCTCCGGCCAGAAAGATGTCAGACCCAAGATAACCTCCCCTCCGACCAGAGACATCCCAACCCTGCCATAAACTTCTCCCCCACACAGAAACATTCTGAGCTTGTAATAAGCCCCCTCATCCTAAAACCAATATATACTCTTAGTCCGTAAGAGAAAGTGCTCCTGAACAAAATTGGCCAGAAGCCCCTCTCCGGCTTATTTTCTCTAAAATACATCTGTCGTTAAATTGAGCCAC)$ apgppasmlwddg* 01BR023 ENSG00000110367.13 ENSG00000255422.3 -/- +/+ chr11:118791098 chr11:118704608 5'UTR/splice-site exon/splice-site inversion 0 5 0 11 69 medium out-of-frame . . . . ENSG00000110367.13 ENSG00000255422.3 ENST00000534980.7 ENST00000646572.1 upstream upstream . ^AGAGGAGCCGAGTTAGCTCAGCCAGGCGGCGACTTCGGCGGCGCCACGAGAGCGGGCAGCGGAGGAG|ACAGCGCTGaGGAGAATGAACGCCTGAGTACTCATGTCTTTATGCACTGTAGTATTATTTCCTTACAACAGACTCCTGAACCTGGAACGGCAGTGTCAAAGGGTTCACAAAATGTTAGACTTCTGAAGCAAATCAGATGGCACCTTTTTTGAATAATGAAGAATCTTTACCCCTGGCATGAGGAGCTGAGGACAACTCCCACTCCACGATGTGAAGCCAC(AGAGTTTCGAG___GCCCCAGGACCTCCAGCGTCAATGTTGTGGGATGATGGGTGACAGAGCCAAAGCATCGCCATCTTGGACAAGCACGGTCATTCTGAAGTTCCCCTTGATCAAAAACTGCCTAAACCCAAAGGATATCAGCCTGATGGCTAAGGTCAGCATGACCATAAACCATAAATAACATCTCTGACCAGGAACATTCCAAACCCCTCCATGAGACATGCCAGCCCTGAGATAACCTCCCCTCCGGCCAGAAAGATGTCAGACCCAAGATAACCTCCCCTCCGACCAGAGACATCCCAACCCTGCCATAAACTTCTCCCCCACACAGAAACATTCTGAGCTTGTAATAAGCCCCCTCATCCTAAAACCAATATATACTCTTAGTCCGTAAGAGAAAGTGCTCCTGAACAAAATTGGCCAGAAGCCCCTCTCCGGCTTATTTTCTCTAAAATACATCTGTCGTTAAATTGAGCCAC)$ talrrmna* 01BR023 ENSG00000108395.14 ENSG00000249105.2(84064),ENSG00000250340.1(322381) -/- ./- chr17:59070823 chr4:58202134 CDS/splice-site intergenic translocation 7 1 1 202 18 high out-of-frame . B-box_zinc_finger(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%)| . . ENSG00000108395.14 . ENST00000393066.7 . upstream downstream . ^(CCTCCTTTCCCCTCCCACAGCGTCCTGCGCGCATGCGCTTCGCAGCTTCTCTCGCCGCCGCGCCCCCAGCTGCTCTGGTTACGGTTGGTGTTTGCGAATTCTCTGCGGCACCTTCTTCGCTGAACTCCACCGTCAGTTCCATAGGCGCGCGCCCGCGTCACGTGGGCCGAGGTTCCGGCGCGGCTGCTGGCCGGCGGCTGAGCCGGGAGAAAGGAGCTGCGGCCACCGTTCGCCCTACTTCTGCGCCTCGGGGCGGGCGCGCCGGTAAAAATGGCGAAATGGGGGTAGGCGGCGCTGGACCTGAAGAGATGGGGCGCGCAGGTGGGGCGGTTGTCAGAGCCCCCTGACGTGGGCGCCGGGCTTTTATCGGCGATTTGATCTGGCGACCTCGGGCCGGCGCCTAAGAGGTCAGACTGCGGAGCCTGCGGGTCGCCAGCGGCCCCGCCGAGAGCCGGAGGCAATGGATGAACAGAGCGTGGAG___AGCATTGCTGAGGTTTTCCGATGTTTCATTTGTATGGAGAAATTGCGGGATGCACGCCTGTGTCCTCATTGCTCCAAACTGTGTTGTTTCAGCTGTATTAGG___CGCTGGCTGACAGAGCAGAGAGCTCAATGTCCTCATTGCCG___TGCTCCACTCCAGCTACGAGAACTAGTAAATTGTCGTTGGGCAGAAGAAGTAACACAACAGCTTGATACTCTTCAACTCTGCAGTCTCACCAAACATGAAGAAAATGAAAAGGACAA___ATGTGAAAATCACCATGAAAAACTTAGTGTATTTTGCTGGACTTGTAAGAAGTGTATCTGCCATCAGTGTGCACTTTGGGGAGGAATG___CATGGCGGACATACCTTTAAACCTTTGGCAGAAATTTATGAGCAACACGTCACTAAAGTGAATGAAGAGGTAGCCAAACTTCGTCGGCGTCTCATGGAACTGATCAGCTTAGTTCAAGAAGTG___GAAAGGAATGTAGAAGCTGTAAGAAATGCAAAAGATGAGCGTGTTCGGGAAATTAGGAATGCAGTGGAGATGATGATTGCACGGTTAGACACACAGCTGAAGAATAAGCTTATAACACTGATGG___GT)CAGAAGACATCTCTAACCCAAGAAACAGAGCTTTTGGAATCCTTACTTCAGGAGGTGGAGCACCAG___TTGCGGTCTTGTAGTAAGAGTGAGTTGATATCTAAGAGCTCAGAGATCCTTATGATGTTTCAGCAAGTTCATCGGAAGCCCATGGCATCTTTTGTTACCACTCCTGTTCCACCAGACTTTACCAG|GACCACTCAAGTGCTTGTCCAATTTCACCACATGGGACTTTGGTGATAATGAAATTAGAACTCCGTAAAAATTCAGTTACTTATTGGTCTTTAGGTAACGTCACATGCTCCAATCTATCTTCTTCCAGTAAAACCTTGGTCCACAAGGGCTCAGCAAACCCTCAGCAAAATGG MDEQSVESIAEVFRCFICMEKLRDARLCPHCSKLCCFSCIRRWLTEQRAQCPHCRAPLQLRELVNCRWAEEVTQQLDTLQLCSLTKHEENEKDKCENHHEKLSVFCWTCKKCICHQCALWGGMHGGHTFKPLAEIYEQHVTKVNEEVAKLRRRLMELISLVQEVERNVEAVRNAKDERVREIRNAVEMMIARLDTQLKNKLITLMGQKTSLTQETELLESLLQEVEHQLRSCSKSELISKSSEILMMFQQVHRKPMASFVTTPVPPDFTr|ttqvlvqfhhmglw* 01BR023 ENSG00000102931.8 ENSG00000249395.3 +/+ -/+ chr16:57246141 chr8:75301603 CDS/splice-site intron translocation/5'-5' 4 3 0 94 21 high out-of-frame . . . . ENSG00000102931.8 ENSG00000249395.3 ENST00000219204.8 . downstream upstream . ^(AGTGAGCTGGCCGCGGCCTTGGCTGAGAGGCCTTAACCCCGCCGGGCGGCCGCGCCCTGCATGCGAGTTGGGCCGCGGGCGGGGTTGGAGCCTACTCGGGGCGA)CTGCGATGGACGCCTTAGAAGGAGAGAGCTTTGCGCTGTCTTT___CTCCTCCGCCTCTGATGCAGAATTTGATGCTGTGGTTGGATATTTAGAGGACATTATCATGG|ATAAGAGAACAGGGGCATCAAAGAATTAAATAACTTGCCCAAGTTTATGCAG___GCTTTATTTTCCTGGTGACTAAATCACCTGTGACTAGTTTACTAACTAAGTCATTGAGGGGAGTCAAGCTAACACACAAAAAAACATGTCACCTAAATGCGCTTGATAGTGTTGAAATGTCCACCTTCTTAAACTGtGAAGATGAAATTATTTCCAAAGAAGACAGCAAGCTAACCCTGAAGTAC MDALEGESFALSFSSASDAEFDAVVGYLEDIIM|dkrtgaskn* 01BR023 ENSG00000085733.16 ENSG00000181995.12 +/+ +/+ chr11:70420510 chr11:60660722 CDS/splice-site exon/splice-site duplication 4 1 0 421 98 high out-of-frame . Repeat_in_HS1/Cortactin(100%)| . . ENSG00000085733.16 ENSG00000181995.12 ENST00000346329.7 ENST00000646374.1 downstream upstream mismatches(1) ^(GGCCGGGCTAGCGCTTAGCCAGCTGCGGGCGGACCCCCGGGACTCTTGCGGGCCAAGACGCGGGAGGAGGCGGGGCAGGGGGCGGGGTCGCGCGGGGACCCGGATGCGGCCCCGCCCCCGCCCTCGGAACCGGAAGTAGAGCCTGGTGCCTGGGAGCGGCTGGCGCGGCGGAATCCAGGGCCGACCCGGGCCGGACCGACCCCAGGCGGCG___ACGGAATCAGTCCCCAATGCCTGGAAATTCCTCATTGGATTACTGTGTTTTAAACAGAATTTCGTGAACAGCCTTTTATCTCCAAGCGGAAAGAAAG___ATGTGGAAAGCTTCAGCAGGCCACGCTGTGTCCATCGCCCAGGATGACGCGGGGGCCGATGACTGGGAGACCGACCCTGATTTTGTG___AATGATGTGAGTGAGAAGGAGCAAAGATGGGGTGCCAAGACGGTGCAGGGCTCCGGGCACCAGGAGCATATCAA___CATACACAAGCTGAGGGAGAATGTCTTTCAAGAGCATCAGACCCTTAAGGAGAAGGAACTTGAAACAGGACCAAAAGCTTCCCATGGCTATGGAGGGAAATTTGGTGTGGAACAAGACCGAATGGATAAG___TCAGCTGTCGGCCACGAATATCAGTCGAAACTTTCCAAGCACTGCTCGCAGGTGGACTCGGTCCGTGGCTTCGGAGGCAAGTTTGGTGTCCAGATGGACAGAGTTGATCAG___TCTGCTGTAGGCTTTGAATACCAGGGGAAGACTGAGAAGCATGCCTCCCAGAAAG___ACTACTCCAGTGGTTTTGGCGGCAAGTATGGCGTGCAGGCCGACCGAGTAGACAAGAGCGCGGTGGGCTTCGACTACCAGGGCAAGAC)GGAGAAGCACGAGTCACAGAGAG___ATTACTCCAAAGGTTTCGGCGGCAAATAtGGTATCGACAAGGACAAAGTGGATAAGAGCGCCGTTGGCTTTGAGTATCAAGGCAAAACGGAGAAGCACGAGTCCCAGAAAG___ACTATGTGAAAGGGTTTGGAGGAAAATTTGGTGTGCAGACAGACAGACAAGACAAATGTGCCCTTGGCTGGGATCACCAGGAGAAATTGCAGCTGCATGAATCCCAAAAAG|TTCATCAACTCAGGATCCAGTAGTGTAATACAGAAGCCTGTTACGAGATATAAG(___GCACTTTGCCCTCGGAAATCTCACTGTCGGAATCCTTGGAAATCACACCACGCACAACTTCTATTTCTTCATAATTTGCAAAGAACCAGTGTGACTCCAGTCAAGAACAAAAGATTAATTGTGAATTAGCGAAGAACTCTAATTTTTTCAAGCAGCCACATGGAAAACGCATTCTAATGAAATCCTTTCCATTGCTCTTTTTTCTTAGTTCTTCAATAAAGCATGCGATTTGATCACAAATTGACTCTTCCCTTTTTAAAAGCCAGTATGGGTTAACACGGATAAATATAGCCCCTGCAATCCCTGTGGTTGAAGGGATGTAGGAGAGTAGTGTTGAATGCCCACTTTATCTT)$ MWKASAGHAVSIAQDDAGADDWETDPDFVNDVSEKEQRWGAKTVQGSGHQEHINIHKLRENVFQEHQTLKEKELETGPKASHGYGGKFGVEQDRMDKSAVGHEYQSKLSKHCSQVDSVRGFGGKFGVQMDRVDQSAVGFEYQGKTEKHASQKDYSSGFGGKYGVQADRVDKSAVGFDYQGKTEKHESQRDYSKGFGGKYGIDKDKVDKSAVGFEYQGKTEKHESQKDYVKGFGGKFGVQTDRQDKCALGWDHQEKLQLHESQK|vhqlriq* 01BR023 ENSG00000085733.16 ENSG00000181995.12 +/+ +/+ chr11:70420510 chr11:60658727 CDS/splice-site exon/splice-site duplication 26 0 0 421 106 medium out-of-frame . Repeat_in_HS1/Cortactin(100%)| . . ENSG00000085733.16 ENSG00000181995.12 ENST00000346329.7 ENST00000646374.1 downstream upstream . ^(GGCCGGGCTAGCGCTTAGCCAGCTGCGGGCGGACCCCCGGGACTCTTGCGGGCCAAGACGCGGGAGGAGGCGGGGCAGGGGGCGGGGTCGCGCGGGGACCCGGATGCGGCCCCGCCCCCGCCCTCGGAACCGGAAGTAGAGCCTGGTGCCTGGGAGCGGCTGGCGCGGCGGAATCCAGGGCCGACCCGGGCCGGACCGACCCCAGGCGGCG___ACGGAATCAGTCCCCAATGCCTGGAAATTCCTCATTGGATTACTGTGTTTTAAACAGAATTTCGTGAACAGCCTTTTATCTCCAAGCGGAAAGAAAG___ATGTGGAAAGCTTCAGCAGGCCACGCTGTGTCCATCGCCCAGGATGACGCGGGGGCCGATGACTGGGAGACCGACCCTGATTTTGTG___AATGATGTGAGTGAGAAGGAGCAAAGATGGGGTGCCAAGACGGTGCAGGGCTCCGGGCACCAGGAGCATATCAA___CATACACAAGCTGAGGGAGAATGTCTTTCAAGAGCATCAGACCCTTAAGGAGAAGGAACTTGAAACAGGACCAAAAGCTTCCCATGGCTATGGAGGGAAATTTGGTGTGGAACAAGACCGAATGGATAAG___TCAGCTGTCGGCCACGAATATCAGTCGAAACTTTCCAAGCACTGCTCGCAGGTGGACTCGGTCCGTGGCTTCGGAGGCAAGTTTGGTGTCCAGATGGACAGAGTTGATCAG___TCTGCTGTAGGCTTTGAATACCAGGGGAAGACTGAGAAGCATGCCTCCCAGAAAG___ACTACTCCAGTGGTTTTGGCGGCAAGTATGGCGTGCAGGCCGACCGAGTAGACAAGAGCGCGGTGGGCTTCGACTACCAGGGCA)AGACGGAGAAGCACGAGTCACAGAGAG___ATTACTCCAAAGGTTTCGGCGGCAAATAtGGTATCGACAAGGACAAAGTGGATAAGAGCGCCGTTGGCTTTGAGTATCAAGGCAAAACGGAGAAGCACGAGTCCCAGAAAG___ACTATGTGAAAGGGTTTGGAGGAAAATTTGGTGTGCAGACAGACAGACAAGACAAATGTGCCCTTGGCTGGGATCACCAGGAGAAATTGCAGCTGCATGAATCCCAAAAAG|GCTGTGCAAATAATGATTGGCCTGATTCACAGTGCACTGGGAACTCTCTGAATTCATTGGATTTTGCTAAGAGAGGATTCAAGTGGTTCTGGTCCTATCCCTATAATTG(CTGTAGTAATTTACTCATTTTTGTCATTATTTTTT___TTCATCAACTCAGGATCCAGTAGTGTAATACAGAAGCCTGTTACGAGATATAAG___GCACTTTGCCCTCGGAAATCTCACTGTCGGAATCCTTGGAAATCACACCACGCACAACTTCTATTTCTTCATAATTTGCAAAGAACCAGTGTGACTCCAGTCAAGAACAAAAGATTAATTGTGAATTAGCGAAGAACTCTAATTTTTTCAAGCAGCCACATGGAAAACGCATTCTAATGAAATCCTTTCCATTGCTCTTTTTTCTTAGTTCTTCAATAAAGCATGCGATTTGATCACAAATTGACTCTTCCCTTTTTAAAAGCCAGTATGGGTTAACACGGATAAATATAGCCCCTGCAATCCCTGTGGTTGAAGGGATGTAGGAGAGTAGTGTTGAATGCCCACTTTATCTT)$ MWKASAGHAVSIAQDDAGADDWETDPDFVNDVSEKEQRWGAKTVQGSGHQEHINIHKLRENVFQEHQTLKEKELETGPKASHGYGGKFGVEQDRMDKSAVGHEYQSKLSKHCSQVDSVRGFGGKFGVQMDRVDQSAVGFEYQGKTEKHASQKDYSSGFGGKYGVQADRVDKSAVGFDYQGKTEKHESQRDYSKGFGGKYGIDKDKVDKSAVGFEYQGKTEKHESQKDYVKGFGGKFGVQTDRQDKCALGWDHQEKLQLHESQK|gcanndwpdsqctgnslnsldfakrgfkwfwsypynccsnllifviiffhqlriq* 01BR023 ENSG00000100802.15 ENSG00000211879.1 -/- +/- chr14:22986753 chr14:22533500 3'UTR CDS deletion/5'-5' 8 2 0 16 11 medium stop-codon . Domain_of_unknown_function_(DUF4616)(100%)| . . ENSG00000100802.15 ENSG00000211879.1 ENST00000299088.11 . upstream downstream . ^(CTTTTTGCACACACACGAATACAAAGAGCCATACGACCTTCGG___ATGCCGGAAGGTCCTTCTGAATCCCTTCCCTGTTCCTTAGGTTGCACTAGTCGGGGGTTCCATGCTGGGGGGCAGAAGGAATGCTCTCTACCGTCTGAAACCGTTCATCAGGAAGGCCTTGATTTGTGATGTGCTAGGAGAGCACAGGATCTGCAAATAGAAGGCACCTGTCTCCCTTCTGCAGGCCGAGGAGAGGCCGCCATGGACTGTGTGCTTCTTCATGGCTTGTTTACTCTTCTTTCACAGACCCTACAGCTTGGGGCCTGGGCTCCTCTGACCATCCTCATTGAGAAAGGAAAGTGAGTCCAGAGAAGTTGATGCTTCCTACCTGTTGGAGCGGCCCAGCAGTGTAAGCGTGGTTGTTACTGCCCCATCCGCCATGTCCTTCAGTGCCACCATTCTCTTCTCCCCTCCCAGTGGCAGCGAGGCCAGATGCTGCTGCTGCGCCTGTAAGAGTGAGACTAATGGAGGCAACACAGGCTCCCAGGGTGGGAATCCTCCTCCCAGCACCCCCATCACAGTGACTGGACATGGCTTGGCTGTTCAGAGCTCAGAGCAGCTCCTGCATGTTATCTACCAGCGGGTCGATAAGGCAGTGGGTTTGGCTGAAGCTGCTCTGGGTCTTGCCAGGGCCAACAATGAGTTGTTAAAACGTCTCCAGGAGGAAGTGGGTGACCTGAGGCAAGGGAAAGTGTCCATCCCTGATGAAGATGGGGAAAGCCGGGCACATAGTTCCCCACCTGAGGAGCCTGGGCCTCTCAAGGAAAGTCCCGGGGAAGCCTTTAAGGCTCTGTCTGCCGTGGAAGAGGAGTGTGACAGCGTGGGCAGCGGCGTGCAGGTGGTGATTGAGGAGCTGCGGCAGCTGGGAGCAGCCTCAGTGGGGCCTGGGCCTTTGGGCTTCCCAGCAACTCAGAGGGACATGCGGCTCCCAGGGTGCACGCTGGCTGCCAGCGAGGCGGCCCCCCTGCTCAATCCT___CTGGTGGATGATTACGTGGCCTCTGAGGGTGCAGTACAGCGAGTTCTGGTCCCTGCTTATGCCAAGCAACTCTCACCAGCCACACAACTGGCAATCCAGCGGGCAACCCCAGAGACAGGACCAGAAAATGGAACCAAGCTGCCACCACCCCGCCCTGAGGACATGCTCAATGCCGCTGCTGCGCTGGACAGTGCCTTGGAAGAGTCAGGCCCTGGGAGCACTGGGGAGCTGAGACACTCTCTAGGGCTGACCGTTTCCCCATGCAGGACCAGAGGAAGTGGGCAGAAGAACTCCAGGCGCAAGCGGGATCTTGTACTCTCT___AAACTGGTCCACAATGTGCATAACCACATCACCAATGACAAGAGATTCAATGGGTCTGAAAG___CATCAAGTCCTCTTGGAATATTTCAGTAGTGAAGTTTCTTCTGGAAAAGCTCAAGCAAGAGCTGGTGACCAGTCCCCACAATTACACTGATAAGGAGCTAAAAG___GAGCCTGTGTGGCCTACTTCCTTACTAAGAGGCGTGAGTACCGCAACTCCCTGAACCCCTTTAAAGGCCTGAAGGAAAAAGAGGAGAAGAAACTTCGAAGTCGCCGATATCGG___CTTTTTGCCAACCGATCCAGTATCATGAGGCATTTTGGACCTGAGGACCAACGTCTGTGGAATGATGTGACAGAGGAACTGATGTCAGATGAAGAGGACAGTCTTAACGAGCCAGGTGTGTGGGTGGCCCGCCCTCCCCGTTTCCGGGCCCAGCGCCTCACAGAGCTCTGCTACCACCTGGATGCTAACTCTAAGCATGGCACCAAAGCCAACCGTGTGTATGGGCCTCCCTCAGACAGACTGCCTTCTGCTGAAGCCCAGCTCCTTCCACCAGAACTTTACAATCCTAATTTCCAAGAAGAGGAAGATGAGGGAGGGGATGAGAATGCACCTGGCTCCCCATCTTTTGACCAACCCCACAAAACCTGCTGTCCTGACTTGAACTCATTCATTGAAATCAAGGTGGAAAAGGATGAATAAAATCTACAGCCAAGAATAACTCTGGCTTCCGCCATGCCCCATGTCTCAGAAATAGGTGGCCATGGGGCTTCACAAAATAATGAGATGCTCTGTGCAGTCTGAGAAAGCAAATTTGCCTCTTTTCTTAACACAGTCTCTACTGGGGAAGCAGAACACTGGTGGGATAAAAACTTATCTAGAAGGGGAGAAACTCCCTCCACTGTGAACAGTAAGCCAGAATATGCTTATTCCTCAGCATAAAC)AGTATCTCGGAGAAGCCTGGGATGAGAAAATGAGGAGGATGGGTCCAAGAAACATGAGGCCTTCTTGACATATGCCCTGTCTCTGAGTTGTTTCTGCCCCTGCCCAGTTCCACCCAAAGCTCTGAGGAAGCAGCCCAGGTTGTACCTTTTGCTTCCCTGTGACTACTTGTCTTGCTCTGCAGTGGAAACCGAACATGACCAGTGCAGGTTAATACCGCC|c|GTATCACAGTGTTTGATGCCTCACAATAAACTCCCTTTTGTCACTTCACCCCTCTTCTTGATGTGCTCTAATGAGTTAGAAAACACTCAAGCTTTAAAATAGCTATTGAGTTACTCCTAGGAGAAAAAAGTGCCCCAAATGGGATACATTCATAGACTTTTTGTACTAAGAGGCCAaAGAGGCCATTGGACCCACTTCCCCATTTACAGATAAAGAAACTGAGGCTTAGAGGCAAGAG . 01BR023 ENSG00000108395.14 ENSG00000249105.2(95743),ENSG00000250340.1(310702) -/- ./- chr17:59070823 chr4:58213813 CDS/splice-site intergenic translocation 0 4 0 202 8 medium out-of-frame . B-box_zinc_finger(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%)| . . ENSG00000108395.14 . ENST00000393066.7 . upstream downstream . ^(CCTCCTTTCCCCTCCCACAGCGTCCTGCGCGCATGCGCTTCGCAGCTTCTCTCGCCGCCGCGCCCCCAGCTGCTCTGGTTACGGTTGGTGTTTGCGAATTCTCTGCGGCACCTTCTTCGCTGAACTCCACCGTCAGTTCCATAGGCGCGCGCCCGCGTCACGTGGGCCGAGGTTCCGGCGCGGCTGCTGGCCGGCGGCTGAGCCGGGAGAAAGGAGCTGCGGCCACCGTTCGCCCTACTTCTGCGCCTCGGGGCGGGCGCGCCGGTAAAAATGGCGAAATGGGGGTAGGCGGCGCTGGACCTGAAGAGATGGGGCGCGCAGGTGGGGCGGTTGTCAGAGCCCCCTGACGTGGGCGCCGGGCTTTTATCGGCGATTTGATCTGGCGACCTCGGGCCGGCGCCTAAGAGGTCAGACTGCGGAGCCTGCGGGTCGCCAGCGGCCCCGCCGAGAGCCGGAGGCAATGGATGAACAGAGCGTGGAG___AGCATTGCTGAGGTTTTCCGATGTTTCATTTGTATGGAGAAATTGCGGGATGCACGCCTGTGTCCTCATTGCTCCAAACTGTGTTGTTTCAGCTGTATTAGG___CGCTGGCTGACAGAGCAGAGAGCTCAATGTCCTCATTGCCG___TGCTCCACTCCAGCTACGAGAACTAGTAAATTGTCGTTGGGCAGAAGAAGTAACACAACAGCTTGATACTCTTCAACTCTGCAGTCTCACCAAACATGAAGAAAATGAAAAGGACAA___ATGTGAAAATCACCATGAAAAACTTAGTGTATTTTGCTGGACTTGTAAGAAGTGTATCTGCCATCAGTGTGCACTTTGGGGAGGAATG___CATGGCGGACATACCTTTAAACCTTTGGCAGAAATTTATGAGCAACACGTCACTAAAGTGAATGAAGAGGTAGCCAAACTTCGTCGGCGTCTCATGGAACTGATCAGCTTAGTTCAAGAAGTG___GAAAGGAATGTAGAAGCTGTAAGAAATGCAAAAGATGAGCGTGTTCGGGAAATTAGGAATGCAGTGGAGATGATGATTGCACGGTTAGACACACAGCTGAAGAATAAGCTTATAACACTGATGG___GTCAGAAGACATCTCTAACCCAAGAAACAGAGCTTTTGGAATCCTTACTTCAGGAGGTGGAGCACCAG___TTGCGGTCTTGTAGTAAGAGTGAGTTGATATCTAA)GAGCTCAGAGATCCTTATGATGTTTCAGCAAGTTCATCGGAAGCCCATGGCATCTTTTGTTACCACTCCTGTTCCACCAGACTTTACCAG|TGAACCTTCAGAGGGCAAAGGGGAAGTTTTCCCTTGGCTTCCACAGTGGTGAGAATGAGTCAGACTCTGAATATAATTTGAAAGGAAAGATGACAGGATTTCCTAACAGATTGGATGCAAAGCTATAAGAAAAAGTAAAGAGTCAAGGAATGTACCTCCAATGATTTTGACCTGAGTACCTAAAAGGATACAGTTTCCCTCAACTGAAATAAGAAGGTTAGAAATAAAGTTTTTGAGAAGCCATGAGTTTGATTTTGGACATATTGGTTCAAAGAGTATCATAGACTCTGTC MDEQSVESIAEVFRCFICMEKLRDARLCPHCSKLCCFSCIRRWLTEQRAQCPHCRAPLQLRELVNCRWAEEVTQQLDTLQLCSLTKHEENEKDKCENHHEKLSVFCWTCKKCICHQCALWGGMHGGHTFKPLAEIYEQHVTKVNEEVAKLRRRLMELISLVQEVERNVEAVRNAKDERVREIRNAVEMMIARLDTQLKNKLITLMGQKTSLTQETELLESLLQEVEHQLRSCSKSELISKSSEILMMFQQVHRKPMASFVTTPVPPDFTs|epsegkgevfpwlpqw* 01BR023 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51877282 chr19:51855967 CDS/splice-site intergenic deletion/read-through 1 3 0 119 80 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAA)GTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAGACCATCAGCCTTCAACCACCACCCTTGTATCAGAGGAGACAAATAAGCgTGGAAATCCTCAAAAAGCCTCATCCTCAGAGCAATGTCA MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|dlhyrwktaasepq* 01BR025 ENSG00000230223.7(287724),ENSG00000202433.1(22648) ENSG00000150361.12 ./- -/- chr13:70436816 chr13:69975802 intergenic CDS/splice-site deletion 29 10 0 106 87 high . . |BTB/POZ_domain(100%),BTB_And_C-terminal_Kelch(100%),Kelch_motif(100%) . . . ENSG00000150361.12 . ENST00000377844.9 upstream downstream duplicates(6),mismappers(9) AGTGTTTGATGGTTCCTCCTGCGTTTATTCTCCTTTCTGCTGCCTTGTGAAGAAGATGTCTTGCTTCCCCTTCACCTTCTACCACAACTATAAGTTTCCTGAGGCCTCCCCAGCCATGCTGAATT|GCTGTCATCAACCGGCCATTCAATGACACCTCAAAGTGATTTGGACTCCAGTAGCTCTGAAGAATTCTATCAAGCTGTTCATCATGCTGAGCAAACCTTCAGAAAGATGGAAAGTTATTTGAAGCAGCAGCAACTTTGTGATGTTATCCTGATTGTTGGGAACCGAAAGATACCTGCACATAG___GCTTGTTCTGAGTTCAGTCTCCGACTATTTTGCGGCCATGTTTACAAGTGATGTTTGTGAAGCCAAGCAAGAGGAGATCAAAATGGAAGGCATAGACCCC(AATGCTCTCTGGGACCTTGTCCAATTTGCATATACAG___GCTGCTTGGAATTAAAAGAGGACACCATTGAGAACCTTCTTGCTGCAGCGTGCCTTCTTCAGCTTCCACAGGTGGTGGAAGTGTGCTGCCACTTCCTCATGAAGCTTTTGCATCCATCTAACTGTTTAGGAATTCGAGCCTTCGCAGATGCTCAAGGATGCATTGAGTTAATGAAGGTGGCCCACAGCTACACAATG___GAAAACATAATGGAAGTTATCAGAAATCAAGAGTTTTTACTCCTTCCAGCTGAGGAGCTCCATAAACTACTGGCCAGTGATGATGTCAATGTTCCTGATGAAGAAACCATCTTCCATGCATTGATGATGTGGGTCAAGTATGACATGCAGAGTAGATGCAATGACCTGAGCATGCTTCTTGCCTTTATAAGACTGCCACTGCTTCCACCACAG___ATATTGGCTGACCTAGAAAATCATGCATTATTTAAGAATGATCTGGAATGTCAAAAGCTGATTCTAGAAGCAATGAAATACCATCTATTGCCAGAAAGAAGAACTTTAATGCAAAGTCCGAGAACTAAACCCAGAAAATCTACAGTCGGAACTTTGTATGCTGTAGGAGGAATGGATAACAACAAAG___GAGCTACAACTATAGAGAAATATGATCTGAGAACAAATCTGTGGATCCAGGCAGGGATGATGAATGGCAGAAGGCTGCAGTTTGGTGTGGCTGTTATTGATGACAAACTCTTTGTAATTGGAGGTCGAGATGGCTTAAAGACATTGAACACTGTTGAATGTTACAATCCCAAAACCAAGACATGGACTGTCTTACCACCAATGTCAACACACAGACATGGTCTAG___GTGTAACAGTACTTGAAGGCCCTATTTATGCTGTGGGAGGCCATGATGGCTGGAGCTATCTGAATACAGTGGAAAGGTGGGATCCACAGAGTCAACAATGGACATTTGTAGCCAGTATGTCAATTGCTCGGAGCACAGTTGGTGTAGCAGCATTGAATGGCAA___GTTGTATTCAGTTGGAGGTCGTGATGGAAGTTCCTGTTTGAGTTCAATGGAATATTATGATCCTCATACAAATAAGTGGAACATGTGTGCTCCCATGTGTAAGAGGAGAGGGGGTGTCGGAGTGGCCACATGTGACGGTTTTCTTTATGCAGTAGGAGGTCATGATGCTCCTGCTTCAAATCACTGTTCCCGGCTACTGGATTATGTAGAAAG___ATATGATCCCAAAACAGACACTTGGACCATGGTGGCTCCTTTGAGTATGCCCAGAGATGCTGTTGGGGTCTGTCTCCTTGGTGACAGATTATATGCTGTTGGTGGCTATGATGGACAGACATACCTCAACACTATGGAATCCTATGACCCACAAACTAATGAGTGGACACAG___ATGGCTTCCTTGAATATTGGGAGAGCAGGTGCCTGTGTGGTAGTCATCAAGCAACCTTGACTTATTGATATTTTACTTGGAAAGATTTTACTTGCTGGAGTGGTTATTTTTATATTGAATGGCAAGAATGAGAACTTCCAGAGATGAAAACTCTTCAAGAACAAGGATCTCTGTAGCGTTACCTACTGATGTTGAAAGAGTTAGTAGATCAAACAGAATAGTAGGAAACAAGAAAACATTAAACTTATACAGGAAAAATGTCTGGCCATATGTTAGTTAGTTCGGGAATGGTTATTGGTAATTTGTTTTGTATTATAGCATACAATAACTAGAGTTACCAAAGGCTTGTTTTTTCTTGAGCAGTTGAAAGGAGAGACCAATATTTGTGACATGGATAGTTTCATGACCACAACTCATTCAATCATTTTATAGTCTATGGCAATATCCAAGAGATTGCCAAGAGTAGAAGACAGAATATTTCATCTGACAGTATCTGATTGGTTTACTGTTTTTCTAATCATATGTGGTCATAACGGGAAGCAGAATTATGCTTTATTCAAACAAACCTGCTTCTGCCTCATTTTCCTAAGCTATGAGAACAATTAGAGAAACAGATTCATGCTTGTATCTTGCATTCAGAAAACAAACTGTCCTACTAATCAAAGCTGCATATCTCATCAGAGATAATGGTTGAATTTTATTGCAACCATATTGGCAATCTGAAACTGGCAAACACAAAGGATTGTTTTCACTAGGCTTACCATTTTGCTTTGCTTTTTTAACACACTGAGCCAAAGATGCAGTGTAATTATTGGGCTTTTGCCTTATGTTGAGTTCAGTGTAAGCATGGAAGCTAGTGATTCTGAATGATATATATATCCATTGCATGTTGAACTCCTTTAGAATTTTGTTCTTAAACAAACTTAGAATTTCAAAAGAAAAACATATGATCCATTAAGTTGGAGTGTTTATGATTATTGCTAGAAAGAAGGCAGACTTCATATTCTCATCGCCCATTTTTCAAACTTGTTACATTGATCTGTACATTATTTTAAGCCACATGTTTGTAATTGTTTAAAACAAAGTGGAAACATTACACAATGTCCTTAATAAATAGGCCCATGTAAATTTTAATTACAATTAATAAATGATCAAAAAATTTGCA)$ . 01BR025 ENSG00000266992.1 ENSG00000268442.1(112067),ENSG00000267696.6(3362991) -/- ./- chr17:59976656 chr19:24275492 exon/splice-site intergenic translocation 16 0 1 147 45 high . . . . . ENSG00000266992.1 . ENST00000588725.1 . upstream downstream duplicates(1) ^(TGCTGTTTGAACATTAGGAGACAGCAATCAAATATATGACTGATGGATGTTTACTGAAACATATTCTGGGAGACCCAAGTCTTACCAAATTCAGAGTCATTATTTTGGATGAAGCCCATGAAAGAACTCTAACTACA___GATATCTTATTTGGTCTATTGAAGAAGCTATTTCAGGAGAAGTCTGCTAATAGGAAGGAGCATTTAAAAGTGGTGGTAATGTCAGCAACTATGGAATTAGCCAAGCTCTCTGCATTCTTTGGAAATTGTCCAATATTTGATATACCTGGAAGGCTTTATCCAGTCAGAGAGAAATTCTGCAATTTGATTGGTCCACGAGACAGAGAAAATACTGCGTATATTCAAGCG___ATTGTGAAAGTCACCATGGATATCCATTTGAATGAAATGGCTGGAGACATCTTGGTTTTTCTGACTG___GCCAGTTTGAAATAGAAAAAAGTTGTGAGTTACTTTTTCAGATGGCAGAGTCTGTTGATTATGATTATGATGTTCAAGATACCATCCTCGATGGCTTGTTAATATTGCCGTGTTATGGATCAATGACAACTG___ATCAACAGAGGAGGATATTTTTGCCACCGCCACCTGGAATTAGAAAATGTGTCATATCCACCAATATTTCTGCAACGTCTTTGACAATAGATGGAACCAG___ATATGTGGTAGATGGTGGCTTTGTGAAGCAGTTAAATCACAACCCCAGATTAGGGTTGGACATCCTGGAGGTGGTTCCAATTTCAAA___GAGCGAGGCATTACAGCGAAGTGGCCGAGCTGGCAGGACTTCTTCAGGAAAATGCTTTCGGATCTATAGTAAAGATTTTTGGAACCAGTGTATGCCTGACCATGTGATCCCTGAAATTAAGAGAACTAGTTTGACATCTGTAGTTCTGACCTTAAAGTGCCTTGCCATACACGATGTCATAAG___GTTTCCCTATTTGGATCCACCTAATGAGAGACTTATTTTAGAAGCTCTTAAACAGCTTTACCAGTGTGATGCTATT)GACAG___GAGTGGCCATGTCACCAGATTGGGTTTGTCTATGGTGGAGTTTCCTTTGCCTCCACATCTGACATGTGCAGTAATAAAAGCTGCTTCCCTGGATTGTGAAGATTTACTACTTCCAATAGCAGCAATGTTGTCTGTGGAAAACGTCTTCATTAGACCTG___TTGATCCAGAGTACCAGAAGGAAGCAGAACAGAGACATCGAGAATTGGCAGCTAAAGCTGGAGGATTTAATGACTTTGCAACTTTAGCTGTCATCTTTGAACAATGCAAATCAAG|GTTGGAAAAACTTTTTTGGCAGAATCTGTGAAGGGCGTTTTTGTCTTTGGAAGCTTTTTGAGGTCTACGGTGAAAAACAAAATATTCACAGACAAAAACTACAAAGTAGCAATCTGTGAAACTACTTTGTGATGTGTGGATTCAACTCACAGAGATAAGCTTTACCTTTGATTCAGCG . 01BR025 ENSG00000267104.2 ENSG00000268442.1(112067),ENSG00000267696.6(3362991) -/- ./- chr17:59976656 chr19:24275492 exon/splice-site intergenic translocation 16 0 1 147 45 high . . . . . ENSG00000267104.2 . ENST00000587125.1 . upstream downstream duplicates(1) ^(GCATGACCCAGGCCAGCTGATTCATCAGAGTCAG___GATGGACGTGGTAGAGGTCGCGGGTAGTTGGTGGGCACAAGAGCGAGAGGACATCATTATGAAATACGAAAAG___ATCATGAAGGAGAAGGGCAAGAGGTCATCTGAACACATCCAGCAGATGGACCTGGACGTAAGCGGGACATTAAGGAGGCATATATTCTTCAGGGATCGATACGGAACCAA___GAGACAGCAATCAAATATATGACTGATGGATGTTTACTGAAACATATTCTGGGAGACCCAAGTCTTACCAAATTCAGAGTCATTATTTTGGATGAAGCCCATGAAAGAACTCTAACTACA___GATATCTTATTTGGTCTATTGAAGAAGCTATTTCAGGAGAAGTCTGCTAATAGGAAGGAGCATTTAAAAGTGGTG___ATTGTGAAAGTCACCATGGATATCCATTTGAATGAAATGGCTGGAGACATCTTGGTTTTTCTGACTG___ATCAACAGAGGAGGATATTTTTGCCACCGCCACCTGGAATTAGAAAATGTGTCATATCCACCAATATTTCTGCAACGTCTTTGACAATAGATGGAACCAG___ATATGTGGTAGATGGTGGCTTTGTGAAGCAGTTAAATCACAACCCCAGATTAGGGTTGGACATCCTGGAGGTGGTTCCAATTTCAAA___GTTTCCCTATTTGGATCCACCTAATGAGAGACTTATTTTAGAAGCTCTTAAACAGCTTTACCAGTGTGATGCTATT)GACAG___GAGTGGCCATGTCACCAGATTGGGTTTGTCTATGGTGGAGTTTCCTTTGCCTCCACATCTGACATGTGCAGTAATAAAAGCTGCTTCCCTGGATTGTGAAGATTTACTACTTCCAATAGCAGCAATGTTGTCTGTGGAAAACGTCTTCATTAGACCTG___TTGATCCAGAGTACCAGAAGGAAGCAGAACAGAGACATCGAGAATTGGCAGCTAAAGCTGGAGGATTTAATGACTTTGCAACTTTAGCTGTCATCTTTGAACAATGCAAATCAAG|GTTGGAAAAACTTTTTTGGCAGAATCTGTGAAGGGCGTTTTTGTCTTTGGAAGCTTTTTGAGGTCTACGGTGAAAAACAAAATATTCACAGACAAAAACTACAAAGTAGCAATCTGTGAAACTACTTTGTGATGTGTGGATTCAACTCACAGAGATAAGCTTTACCTTTGATTCAGCG . 01BR025 ENSG00000179604.10 ENSG00000266992.1 -/- -/- chr17:73311893 chr17:59989344 5'UTR/splice-site exon/splice-site deletion 3 12 0 28 55 high . . . . . ENSG00000179604.10 ENSG00000266992.1 ENST00000335793.4 ENST00000588725.1 upstream downstream duplicates(1) ^(AGAGGGAAA)CAAACGCCGGCGCTGACAGGGGCCGCCAGCCCCTCCGCCGCGCGGAGCCCACGAAGGGGACAGCGCAGCCGGCCCAGAGCTCGGGTCTCCGGGGACCGAG|GTTTCCCTATTTGGATCCACCTAATGAGAGACTTATTTTAGAAGCTCTTAAACAGCTTTACCAGTGTGATGCTATTGACAG___GAGTGGCCATGTCACCAGATTGGGTTTGTCTATGGTGGAGTTTCCTTTGCCTCCACATCTGACATGTGCAGTAATAAAAGCTGCTTCCCTGGATTGTGAAGATTTACTACTTCCAATAGCAGCAATGTTGTCTGTGGAAAACGTCTTCATTAGACCTG___TTGATCCAGAGTACCAGAAGGAAGCAGAACAGAGAC(ATCGAGAATTGGCAGCTAAAGCTGGAGGATTTAATGACTTTGCAACTTTAGCTGTCATCTTTGAACAATGCAAATCAAG___TGGAGCTCCAGCTTCATGGTGCCAAAAACACTGGATTCATTGGAGGTGCTTATTTTCTGCATTTCGTGTGGAAGCTCAACTTCGAGAACTAATCAGGAAGCTTAAACAGGTGATTGCCATAATG)$ . 01BR025 ENSG00000179604.10 ENSG00000266992.1 -/- -/- chr17:73311893 chr17:59987604 5'UTR/splice-site exon/splice-site deletion 0 4 0 28 76 medium . . . . . ENSG00000179604.10 ENSG00000266992.1 ENST00000335793.4 ENST00000588725.1 upstream downstream . ^(AGAGGGAAACAAACGCCGGCGCTGACAGGGGC)CGCCAGCCCCTCCGCCGCGCGGAGCCCACGAAGGGGACAGCGCAGCCGGCCCAGAGCTCGGGTCTCCGGGGACCGAG|GAGTGGCCATGTCACCAGATTGGGTTTGTCTATGGTGGAGTTTCCTTTGCCTCCACATCTGACATGTGCAGTAATAAAAGCTGCTTCCCTGGATTGTGAAGATTTACTACTTCCAATAGCAGCAATGTTGTCTGTGGAAAACGTCTTCATTAGACCTG___TTGATCCAGAGTACCAGAAGGAAGCAGAACAGAGACATCGAGAATTGGCAGCTAAAGCTGGAGGATTTAATGACTTTGCAACTTTAGCTGTCATCTTTG(AACAATGCAAATCAAG___TGGAGCTCCAGCTTCATGGTGCCAAAAACACTGGATTCATTGGAGGTGCTTATTTTCTGCATTTCGTGTGGAAGCTCAACTTCGAGAACTAATCAGGAAGCTTAAACAGGTGATTGCCATAATG)$ . 01BR025 ENSG00000179604.10 ENSG00000267104.2 -/- -/- chr17:73311893 chr17:59989344 5'UTR/splice-site exon/splice-site deletion 3 12 0 28 55 high . . . . . ENSG00000179604.10 ENSG00000267104.2 ENST00000335793.4 ENST00000587125.1 upstream downstream duplicates(1) ^(AGAGGGAAA)CAAACGCCGGCGCTGACAGGGGCCGCCAGCCCCTCCGCCGCGCGGAGCCCACGAAGGGGACAGCGCAGCCGGCCCAGAGCTCGGGTCTCCGGGGACCGAG|GTTTCCCTATTTGGATCCACCTAATGAGAGACTTATTTTAGAAGCTCTTAAACAGCTTTACCAGTGTGATGCTATTGACAG___GAGTGGCCATGTCACCAGATTGGGTTTGTCTATGGTGGAGTTTCCTTTGCCTCCACATCTGACATGTGCAGTAATAAAAGCTGCTTCCCTGGATTGTGAAGATTTACTACTTCCAATAGCAGCAATGTTGTCTGTGGAAAACGTCTTCATTAGACCTG___TTGATCCAGAGTACCAGAAGGAAGCAGAACAGAGAC(ATCGAGAATTGGCAGCTAAAGCTGGAGGATTTAATGACTTTGCAACTTTAGCTGTCATCTTTGAACAATGCAAATCAAG___TGGAGCTCCAGCTTCATGGTGCCAAAAACACTGGATTCATTGGAGGTGCTTATTTTCTGCATTTCGTGTGGAAGCTCAACTTCGAGAACTAATCAGGAAGCTTAAACAG___GAGACAGAGGCCTGAAGCAAAGACATCTGGGTCAGAGAAAAAGTATTTAAGGGCCATGCAAGCCAATCGTAGCCAACTGCACAGTCCTCCAGGAACTGGAAGCAGTGAGGATGCCTCAACCCCTCAGTGTGTCCACACAAGATTGACAGGAGAGGGTTCTTGCCCTCATTCTGGAGATGTTCATATCCAGATAAACTCCATACCTAAAGAATGTGCAGAAAATGCAAGCTCCAGAAATATAAGGTCAGGTGTCCATAGCTGTGCCCATGGATGTGTACACAGTCGCTTACGGGGTCACTCCCACAGTGAAGCAAGGCTGACTGATGATACTGCCGCAGAATCTGGAGATCATGGTAGTAGCTCCTTCTCAGAATTCCGCTATCTCTTCAAGTGGCTGCAAAAAAGTCTTCCATATATTTTGATTCTGAGCGTCAAACTTGTTATGCAGCATATAACAG___GAATTTCTCTTGGAATTGGGCTGCTAACAACTTTTATGTATGCAAACAAAAGCATTGTAAATCAGGTTTTTCTAAGAGTAAGTATAACAAGCAACTAAAAAATTATTAACTGTTTCTCTCCATAGATTTTAGAGAAATAATTTTGAGAGAAATAGGAAATAACTTGAAAGAAATAGGAAGTAATAGGATATATTGTAACATCCACGTTATGTTAAATTTGTTATCTAAATCCTGGAATAAATTATCTCTCCTAA)$ . 01BR025 ENSG00000179604.10 ENSG00000267104.2 -/- -/- chr17:73311893 chr17:59987604 5'UTR/splice-site exon/splice-site deletion 0 4 0 28 76 medium . . . . . ENSG00000179604.10 ENSG00000267104.2 ENST00000335793.4 ENST00000587125.1 upstream downstream . ^(AGAGGGAAACAAACGCCGGCGCTGACAGGGGC)CGCCAGCCCCTCCGCCGCGCGGAGCCCACGAAGGGGACAGCGCAGCCGGCCCAGAGCTCGGGTCTCCGGGGACCGAG|GAGTGGCCATGTCACCAGATTGGGTTTGTCTATGGTGGAGTTTCCTTTGCCTCCACATCTGACATGTGCAGTAATAAAAGCTGCTTCCCTGGATTGTGAAGATTTACTACTTCCAATAGCAGCAATGTTGTCTGTGGAAAACGTCTTCATTAGACCTG___TTGATCCAGAGTACCAGAAGGAAGCAGAACAGAGACATCGAGAATTGGCAGCTAAAGCTGGAGGATTTAATGACTTTGCAACTTTAGCTGTCATCTTTG(AACAATGCAAATCAAG___TGGAGCTCCAGCTTCATGGTGCCAAAAACACTGGATTCATTGGAGGTGCTTATTTTCTGCATTTCGTGTGGAAGCTCAACTTCGAGAACTAATCAGGAAGCTTAAACAG___GAGACAGAGGCCTGAAGCAAAGACATCTGGGTCAGAGAAAAAGTATTTAAGGGCCATGCAAGCCAATCGTAGCCAACTGCACAGTCCTCCAGGAACTGGAAGCAGTGAGGATGCCTCAACCCCTCAGTGTGTCCACACAAGATTGACAGGAGAGGGTTCTTGCCCTCATTCTGGAGATGTTCATATCCAGATAAACTCCATACCTAAAGAATGTGCAGAAAATGCAAGCTCCAGAAATATAAGGTCAGGTGTCCATAGCTGTGCCCATGGATGTGTACACAGTCGCTTACGGGGTCACTCCCACAGTGAAGCAAGGCTGACTGATGATACTGCCGCAGAATCTGGAGATCATGGTAGTAGCTCCTTCTCAGAATTCCGCTATCTCTTCAAGTGGCTGCAAAAAAGTCTTCCATATATTTTGATTCTGAGCGTCAAACTTGTTATGCAGCATATAACAG___GAATTTCTCTTGGAATTGGGCTGCTAACAACTTTTATGTATGCAAACAAAAGCATTGTAAATCAGGTTTTTCTAAGAGTAAGTATAACAAGCAACTAAAAAATTATTAACTGTTTCTCTCCATAGATTTTAGAGAAATAATTTTGAGAGAAATAGGAAATAACTTGAAAGAAATAGGAAGTAATAGGATATATTGTAACATCCACGTTATGTTAAATTTGTTATCTAAATCCTGGAATAAATTATCTCTCCTAA)$ . 01BR025 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 2 13 0 41 161 high . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000328189.7 upstream downstream low_entropy(2) CTCCCGAGACCTTAGGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG(___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACC)$ . 01BR025 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 4 9 0 31 17 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream low_entropy(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTG)GAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAG?AGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGI?EGAAHSQICP|gysfrrrtlqmegmqes* 01BR025 ENSG00000130816.16 ENSG00000198342.10(2792),ENSG00000231361.1(5134) -/- ./+ chr19:10177292 chr19:12368475 CDS/splice-site intergenic inversion 1 11 0 45 37 high out-of-frame . DMAP1-binding_Domain(100%)| . . ENSG00000130816.16 . ENST00000359526.9 . upstream upstream . ^(GCGAAAAGCCGGGGCGCCTGCGCTGCCGCCGCCGCGTCTGCTGAAGCCTCCGAGATGCCGGCGCGTACCGCCCCAGCCCGGGTGCCCACACTGGCCGTCCCGGCCATCTCGCTGCCCGACGATGTCCGCAGGCG___GCTCAAAGATTTGGAAAGAGACAGCTTAACAGAAAAG___GAATGTGTGAAGGAGAAATTGAATCTCTTGCACGAATTTCTGCAAACAGAAATAAAGAATCAGTTATGTGACTTGGAAACCAAATTACGTAAAGAAGAATTATCCGAG___GAGGGCTACCTGGCTAAAGTCAAATCCCTTTTAAATAAAGATTTGTCCTTGGAGAACGGTGCTCATGCTTACAACCGGGAAGTGAATGGACGTCTAGAAAACGGGAACCAAGCAAGAAGTGAAGCCCGTAGAGTGGGAATGGCAGATGCCAACAGCCCCCCCAAACCCCTTTCCAAACCTCGCACGCCCAGGAGG)AGCAAGTCCGATGGAGAGGCTAAGC___GTTCAAGAGACCCTCCTGtCTCAGCCTCCCAAGTAACTGGGATTAGAG___CTGAACCTTCACCTAGCCCCAGGATTACAAGGAAAAGCACCAGGCAAACCACCATCACATCTCATTTTGCAAAGGG|CCGGTCCCTCCATTCGGGGTCCCTTAGTTCCCGCAACAGACTACAAGATTGACTGCAACTAATGTATAACCTGGCAGGATCCACGACGGAGAAGTCCCTTCACCAAATGGGACAATAATTCAAGAGGGGCAACCAGAGCAAGTCACGCCACCTGGTACCTCTAGCCCCGCTTGCCTCTTCTGCATTCCAAACCCTTTCTTTAAAAAC MPARTAPARVPTLAVPAISLPDDVRRRLKDLERDSLTEKECVKEKLNLLHEFLQTEIKNQLCDLETKLRKEELSEEGYLAKVKSLLNKDLSLENGAHAYNREVNGRLENGNQARSEARRVGMADANSPPKPLSKPRTPRRSKSDGEAKRSRDPPvSASQVTGIRAEPSPSPRITRKSTRQTTITSHFAKg|rslhsgslssrnrlqd* 01BR025 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 2 10 0 11 27 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream duplicates(1) CCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCAT(GAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 01BR025 ENSG00000124209.4 ENSG00000232294.6(52809),ENSG00000286250.1(89610) +/+ ./- chr20:58311122 chr20:52751326 CDS/splice-site intergenic inversion 4 4 0 75 11 high out-of-frame . Ras_family(100%)| . . ENSG00000124209.4 . ENST00000244040.4 . downstream downstream . ^(AGGTGACGCGGCCGGCGTCCCAAGATGGCGGCGGCGGCGGCTCCCGGAAGGCCGCGGCGGCGTCCCGGCTGCTAAGGCGGGCCCCACGCGGCTGGCAGCGGACAGGCCGGACCTACGGCCGGAGGACGGGCGGCAGCCGCCTCTGCGCGGACCGGGGCTGGGCCGTGCGGCGGCAGCGGCGCCAGGGGATGCTCTTG)CTGGGCCTGGCCTCTCCCTTCTCAACTTAGGGCGGCGGCGGGCCCGCGCCCCTGGCTCCCGGGCCATGGCGCTGAGGGAGCTCAAAGTGTGTCTGCTCGGG___GATACAGGTGTAGGTAAATCGAGTATTGTGTGGCGGTTTGTGGAAGACAGTTTTGATCCAAACATCAACCCAACAATAGG|AAGAGATCAACTAAATTTTGAAGCGGTGACCCTTGAATGTTTCTAGAAG___ATGTCTTCCTCTAAAGTCATTTGAAATGCTTCACAGAAGATAGCAAG___ATTTGGAAGAAGAGGCAAAACATTTCCTGTAAATACCATCGCTGGGATGAATTCTCACTCTCCTGTCCCTCCATCAAACAGAAATCTATATTGTGCCTTGAGTTGAGC MALRELKVCLLGDTGVGKSSIVWRFVEDSFDPNINPTIg|rdqlnfeavtlecf* 01BR025 ENSG00000276234.5 ENSG00000251764.1(31031),ENSG00000075461.6(38104) +/+ ./- chr17:37442652 chr17:66926603 CDS/splice-site intergenic inversion 5 0 1 60 5 high out-of-frame . Myb-like_DNA-binding_domain(100%)| . . ENSG00000276234.5 . ENST00000615182.5 . downstream downstream . ^(ACGCAAAGCCCGGAGGCGCGCGCGACCGGCGGCTCTTTGGCGCGGATTAGGGGGTCTCGGCGAG___GGAGTCATCAAGCTTTGGTGTATGTGTTGGCCGGTTCTGAAGTCTTGAAGAAGCTCTGCTGAGGAAGACCAAAGCAGCACTCGTTGCCAATTAGGGAATGGACCGTTTGGGTTCCTTTAGCA___ATGATCCCTCTGATAAGCCACCTTGCCGAGGCTGCTCCTCCTACCTCATGGAGCCTTATATCAAGTGTGCTGAATGTGGGCCACCTCCTTTTTTCCTCTGCTTGCAG___TGTTTCACTCGAGGCTTTGAGTACAAGAAACATCAAAGCGATCATACTTATGAAATAATG___ACTTCAGATTTTCCTGTCCTTGATCCCAGCTGGACTGCTCAAGAAGAAATGGCCCTTTTAGAAGCTGTGATGGACTGTGGCTTTGGAAATTG___GCAGGATGTAGCC)AATCAAATGTGCACCAAGACCAAGGAGGAGTGTGAGAAGCACTATATGAAGCATTTCATCAATAACCCTCTGTTTGCATCTACCCTGCTGAACCTGAAACAAGCAGAGGAAGCAAAAACTGCTGACACAGCCATTCCATTTCACT___CTACAGATGACCCTCCCCGACCTACCTTTGACTCCTTGCTTTCTCGGGACATGGCCGGGTACATGCCAGCTCGAGCAGATTTCATTGAG|ACATGGAAACTGAGGAACAGAGAGATCACATATCTTGCACAAGGTCCTACAGTTG___GAGAGAGAATGACTATTTCAACAATGGCAAATAGGGTTCATCATGTATGCACACTCTGATTGCTTTGTG MDRLGSFSNDPSDKPPCRGCSSYLMEPYIKCAECGPPPFFLCLQCFTRGFEYKKHQSDHTYEIMTSDFPVLDPSWTAQEEMALLEAVMDCGFGNWQDVANQMCTKTKEECEKHYMKHFINNPLFASTLLNLKQAEEAKTADTAIPFHSTDDPPRPTFDSLLSRDMAGYMPARADFIE|twklrnreitylaqgptvgermtistmanrvhhvctl* 01BR025 ENSG00000124126.14 ENSG00000144619.15 -/- +/+ chr20:48666283 chr3:2155321 CDS/splice-site intron translocation 3 3 0 128 14 high out-of-frame . Domain_found_in_Dishevelled__Egl-10__and_Pleckstrin_(DEP)(100%),RhoGEF_domain(100%)|Fibronectin_type_III_domain(100%),Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%) . . ENSG00000124126.14 ENSG00000144619.15 ENST00000371941.4 . upstream upstream mismatches(1) ^(AGTCCCGCCCGCCGCGCCGGGAGCCCGGCCCGCCGCTGAGCCCGGCCCGCCGGCGCGCCCCGTCCGGGATGGGGCGCCTGGACGCCTGAGTTGCCGCTCGGCGCGACGGAAGGAGCCGGCGCCGCGCGGCCGCGCTAGAATGGAGGCGCCCAGCGGCAGCGAGCCCGGCGGCGACGGGGCCGGGGACTGCGCCCACCCGGACCCCCGGGCCCCTGGCGCCGCGGCGCCCAGCTCCGGCCCCGGCCCGTGCGCGGCCGCCCGGGAGTCCGAGCGCCAGCTGCGCCTCCGCCTCTGCGTCCTCAACGAGATCTTGGGCACCGAGAGGGACTACGTGGGCACCTTGCGCTTCTTGCAGTCG___GCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAG___GTCCTGTTCTCGAACATCGAAGACATCCTGGAAGTTCATAAGGATTTCTTGGCCGCCTTGGAGTATTGTTTACACCCGGAGCCGCAGTCTCAGCATGAACTTGGGAATGTTTTCTTAAAATTC___AAGGACAAGTTCTGCGTGTACGAGGAGTATTGCAGCAACCATGAGAAAGCCCTGAGGCTGCTGGTGGAGCTGAACAAGATCCCTACCGTGCGCGCCTTCCTTTTG___AGCTGCATGCTTCTGGGAGGCCGGAAGACCACGGACATCCCTTTGGAAGGCTACCTGTTGTCTCCGATCCAGAGGATCTGCAAGTACCCGCTCCTCCTTAAG___GAGCTGGCCAAGAGGACTCCCGGCAAGCACCCAGACCACCCCGCGGTCCAGAGTGCCCTGCAGGCCATGAAGACCGTTTGCTCCAACATCAATGAGACCAAGCGGCAGATGGAGAAGCTGGAAGCCCTGGAGCAGCTGCAGTCCCACATCGAAGGCTGGGAG___GGTTCCAACCTCACAGACATCTGCACTCAGCTCCTCCTGCAAGGGACTTTGTTAAAGATCTCTGCGGGCAACATCCAGGAAAGGGCCTTCTTCCTCTTCGACAACCTTCTCGTCTACTGCAAGCGGAAATCCAG___GGTCACCGGGAGCAAGAAGTCCACCAAGAGGACCAAATCCATCAACGGCTCCCTCTACATCTTCAGGGGTCGAATCAACACTGAAGTCATGGAGGTGGAGAATGTGGAAGATGGGACAG___CGGATTACCATAGCAACGGCTATACCGTCACCAACGGCTGGAAGATCCACAACACGGCCAAGAATAAGTGGTTTGTCTGCATGGCCAAGACGGCAGAGGAGAAGCAGAAGTGGCTGGATGCCATCATCCGCGAGCGGGAGCAGCGCGAGA___GCCTGAAGCTGGGCATGGAGCGTGATGCCTACGTCATGATTGCGGAGAAGGGGGAGAAGCTGTACCACATGATGATGAACAAGAAGGTGAACCTCATCAAGGACCGCCGGAGAAAGCTGAGCACTGTCCCCAAGTGCTTTCTTGGCAA___TGAGTTCGTTGCCTGGCTCCTAGAAATTGGTGAAATCAGCAAGACGGAAGAAGGAGTCAACTTGGGCCAAGCCCTGTTGGAGAATGGCATCATCCACCATG___TTTCCGACAAGCACCAGTTCAAGAATGAGCAGGTGATGTATCGCTTCCGCTACGACGATGGCACCTACAAGGCCCGAAGTGAGCTGGAGGACATCAT)GTCCAAG___GGTGTGAGGCTTTACTGCCGTCTTCACAGCCTCTACACCCCGGTGATCAA___AGACCGTGATTACCACCTGAAGACCTACAAGTCAGTGCTTCCCGGGAGCAAGCTGGTGGACTGGCTGCTGGCTCAG___GGAGACTGCCAGACTCGGGAGGAGGCAGTGGCGCTCGGCGTGGGTCTGTGCAACAATGGCTTCATGCACCACG|GGGTGTGGGACGCCTGGTGCCACAGGACATGTGAACACAGATTATCCGTACCTGGGAGGTGACTTTGGTGAGATCGGAGACATTGGAGTCCCCCAGGAGCAGCTCCTCAGCAGATTGGGGATAAGAACAGAGGGCACCTACAACAATCTATGTATTAC MEAPSGSEPGGDGAGDCAHPDPRAPGAAAPSSGPGPCAAARESERQLRLRLCVLNEILGTERDYVGTLRFLQSAFLHRIRQNVADSVEKGLTEENVKVLFSNIEDILEVHKDFLAALEYCLHPEPQSQHELGNVFLKFKDKFCVYEEYCSNHEKALRLLVELNKIPTVRAFLLSCMLLGGRKTTDIPLEGYLLSPIQRICKYPLLLKELAKRTPGKHPDHPAVQSALQAMKTVCSNINETKRQMEKLEALEQLQSHIEGWEGSNLTDICTQLLLQGTLLKISAGNIQERAFFLFDNLLVYCKRKSRVTGSKKSTKRTKSINGSLYIFRGRINTEVMEVENVEDGTADYHSNGYTVTNGWKIHNTAKNKWFVCMAKTAEEKQKWLDAIIREREQRESLKLGMERDAYVMIAEKGEKLYHMMMNKKVNLIKDRRRKLSTVPKCFLGNEFVAWLLEIGEISKTEEGVNLGQALLENGIIHHVSDKHQFKNEQVMYRFRYDDGTYKARSELEDIMSKGVRLYCRLHSLYTPVIKDRDYHLKTYKSVLPGSKLVDWLLAQGDCQTREEAVALGVGLCNNGFMHH|gvwdawchrtcehrlsvpgr* 01BR025 ENSG00000130816.16 ENSG00000268744.1 -/- -/+ chr19:10177292 chr19:12381204 CDS/splice-site exon inversion/5'-5' 3 1 0 45 12 high out-of-frame . DMAP1-binding_Domain(100%)| . . ENSG00000130816.16 ENSG00000268744.1 ENST00000340748.8 . upstream upstream . ^(TCCGCGTGGGGGGGGTGTGTGCCCGCCTTGCGCATGCGTGTTCCCTGGGCATGGCCGGCTCCGTTCCATCCTTCTGCACAGGGTATCGCCTCTCTCCGTTTGGTACATCCCCTCCTCCCCCACGCCCGGACTGGGGTGGTAGACGCCGCCTCCGCTCATCGCCCCTCCCCATCGGTTTCCGCGCGAAAAGCCGGGGCGCCTGCGCTGCCGCCGCCGCGTCTGCTGAAGCCTCCGAGATGCCGGCGCGTACCGCCCCAGCCCGGGTGCCCACACTGGCCGTCCCGGCCATCTCGCTGCCCGACGATGTCCGCAGGCG___GCTCAAAGATTTGGAAAGAGACAGCTTAACAGAAAAG___GAATGTGTGAAGGAGAAATTGAATCTCTTGCACGAATTTCTGCAAACAGAAATAAAGAATCAGTTATGTGACTTGGAAACCAAATTACGTAAAGAAGAATTATCCGAG___GAGGGCTACCTGGCTAAAGTCAAATCCCTTTTAAATAAAGATTTGTCCTTGGAGAACGGTGCTCATGCTTACAACCGGGAAGTGAATGGACGTCTAGAAAACGGGAACCAAGCAAGAAGTGAAGCCCGTAGAGTGGGAATGGCAGATGCCAACAGCCCC)CCCAAACCCCTTTCCAAACCTCGCACGCCCAGGAGGAGCAAGTCCGATGGAGAGGCTAAGC___CTGAACCTTCACCTAGCCCCAGGATTACAAGGAAAAGCACCAGGCAAACCACCATCACATCTCATTTTGCAAAGGG|CATCAACTaTGATGTGGCAATGAAGGGATGAAAGACCCGTGACGACTTCTCCACTCATTGTTTTCACGTGGACCTACTCCAGGAGGCATGTGCTTGTTCAC MPARTAPARVPTLAVPAISLPDDVRRRLKDLERDSLTEKECVKEKLNLLHEFLQTEIKNQLCDLETKLRKEELSEEGYLAKVKSLLNKDLSLENGAHAYNREVNGRLENGNQARSEARRVGMADANSPPKPLSKPRTPRRSKSDGEAKPEPSPSPRITRKSTRQTTITSHFAKg|inydvamkg* 01BR025 ENSG00000130816.16 ENSG00000248406.1 -/- -/+ chr19:10177292 chr19:12381204 CDS/splice-site exon inversion/5'-5' 3 1 0 45 12 high out-of-frame . DMAP1-binding_Domain(100%)| . . ENSG00000130816.16 ENSG00000248406.1 ENST00000340748.8 . upstream upstream . ^(TCCGCGTGGGGGGGGTGTGTGCCCGCCTTGCGCATGCGTGTTCCCTGGGCATGGCCGGCTCCGTTCCATCCTTCTGCACAGGGTATCGCCTCTCTCCGTTTGGTACATCCCCTCCTCCCCCACGCCCGGACTGGGGTGGTAGACGCCGCCTCCGCTCATCGCCCCTCCCCATCGGTTTCCGCGCGAAAAGCCGGGGCGCCTGCGCTGCCGCCGCCGCGTCTGCTGAAGCCTCCGAGATGCCGGCGCGTACCGCCCCAGCCCGGGTGCCCACACTGGCCGTCCCGGCCATCTCGCTGCCCGACGATGTCCGCAGGCG___GCTCAAAGATTTGGAAAGAGACAGCTTAACAGAAAAG___GAATGTGTGAAGGAGAAATTGAATCTCTTGCACGAATTTCTGCAAACAGAAATAAAGAATCAGTTATGTGACTTGGAAACCAAATTACGTAAAGAAGAATTATCCGAG___GAGGGCTACCTGGCTAAAGTCAAATCCCTTTTAAATAAAGATTTGTCCTTGGAGAACGGTGCTCATGCTTACAACCGGGAAGTGAATGGACGTCTAGAAAACGGGAACCAAGCAAGAAGTGAAGCCCGTAGAGTGGGAATGGCAGATGCCAACAGCCCC)CCCAAACCCCTTTCCAAACCTCGCACGCCCAGGAGGAGCAAGTCCGATGGAGAGGCTAAGC___CTGAACCTTCACCTAGCCCCAGGATTACAAGGAAAAGCACCAGGCAAACCACCATCACATCTCATTTTGCAAAGGG|CATCAACTaTGATGTGGCAATGAAGGGATGAAAGACCCGTGACGACTTCTCCACTCATTGTTTTCACGTGGACCTACTCCAGGAGGCATGTGCTTGTTCAC MPARTAPARVPTLAVPAISLPDDVRRRLKDLERDSLTEKECVKEKLNLLHEFLQTEIKNQLCDLETKLRKEELSEEGYLAKVKSLLNKDLSLENGAHAYNREVNGRLENGNQARSEARRVGMADANSPPKPLSKPRTPRRSKSDGEAKPEPSPSPRITRKSTRQTTITSHFAKg|inydvamkg* 01BR025 ENSG00000130816.16 ENSG00000196466.10 -/- -/+ chr19:10177292 chr19:12393193 CDS/splice-site intron inversion/5'-5' 1 3 0 45 6 high out-of-frame . DMAP1-binding_Domain(100%)| . . ENSG00000130816.16 ENSG00000196466.10 ENST00000340748.8 . upstream upstream . ^(TCCGCGTGGGGGGGGTGTGTGCCCGCCTTGCGCATGCGTGTTCCCTGGGCATGGCCGGCTCCGTTCCATCCTTCTGCACAGGGTATCGCCTCTCTCCGTTTGGTACATCCCCTCCTCCCCCACGCCCGGACTGGGGTGGTAGACGCCGCCTCCGCTCATCGCCCCTCCCCATCGGTTTCCGCGCGAAAAGCCGGGGCGCCTGCGCTGCCGCCGCCGCGTCTGCTGAAGCCTCCGAGATGCCGGCGCGTACCGCCCCAGCCCGGGTGCCCACACTGGCCGTCCCGGCCATCTCGCTGCCCGACGATGTCCGCAGGCG___GCTCAAAGATTTGGAAAGAGACAGCTTAACAGAAAAG___GAATGTGTGAAGGAGAAATTGAATCTCTTGCACGAATTTCTGCAAACAGAAATAAAGAATCAGTTATGTGACTTGGAAACCAAATTACGTAAAGAAGAATTATCCGAG___GAGGGCTACCTGGCTAAAGTCAAATCCCTTTTAAATAAAGATTTGTCCTTGGAGAACGGTGCTCATGCTTACAACCGGGAAGTGAATGGACGTCTAGAAAACGGGAACCAAGCAAGAAGTGAAGCCCGTAGAGTGGGAATGGCAGATGCCAACAGCCCCCCCAAACCCCTTTCCAAACCT)CGCACGCCCAGGAGGAGCAAGTCCGATGGAGAGGCTAAGC___CTGAACCTTCACCTAGCCCCAGGATTACAAGGAAAAGCACCAGGCAAACCACCATCACATCTCATTTTGCAAAGGG|GGCCAACCATATCCCCTTTCCATATTCCAAATCTTTGAACAGCACGAATGACCAAGAAACAAATGTCTCCAATTAAATAAGTGGAAATGCGATGTCATCCTTACCTACACAATCCAGGTTCCTGATGGTTTCCTGCATCACATCTTTGTAGAGATTCTTCTGACAAGGACCCAGCAAAGCCCACTCTTCTCGGGTGAAGTTCACAGCCACATCCTCTAAAGCCACTGAGGC MPARTAPARVPTLAVPAISLPDDVRRRLKDLERDSLTEKECVKEKLNLLHEFLQTEIKNQLCDLETKLRKEELSEEGYLAKVKSLLNKDLSLENGAHAYNREVNGRLENGNQARSEARRVGMADANSPPKPLSKPRTPRRSKSDGEAKPEPSPSPRITRKSTRQTTITSHFAKg|anhipfpyskslnstndqetnvsn* 01BR025 ENSG00000108468.15 ENSG00000136478.7 -/- -/+ chr17:48101268 chr17:64234412 5'UTR/splice-site intron inversion/5'-5' 1 3 0 62 9 high . . . . . ENSG00000108468.15 ENSG00000136478.7 ENST00000225603.9 . upstream upstream . ^(GCGAGCGGCGGGCAGCGCAGACTGCGAGGCTCTTTTGTTCGGC)TGAGGGGAGGGCCGTTGGCCGGGGCCTGCGGTACGCCGCTTCAGTGAGGGACGCCACTGCGGCCACCCGGCTTGCTGCCTTCCTGGGCGCCACTCCCCCAGGCGACCCGACGCGACGCGCCAGCAGCGCAGCACCGATTCCTCTCGGGCTCTTGGGCGCTGCTCTGAG|CTTATGTGAGTCCTCAGAGAGCACTGTCTGCCAAAGCAAAACGCCAAAACAGGAGCAGAACTTTCTGGCCATCCATGTGCAATTAGGAcCCCATTAAATACCACCCAGATAACTCAACACCCAAAATCATCCTCC . 01BR025 ENSG00000130816.16 ENSG00000268870.1 -/- -/+ chr19:10177292 chr19:12393193 CDS/splice-site intron inversion/5'-5' 1 3 0 45 6 high out-of-frame . DMAP1-binding_Domain(100%)| . . ENSG00000130816.16 ENSG00000268870.1 ENST00000340748.8 . upstream upstream . ^(TCCGCGTGGGGGGGGTGTGTGCCCGCCTTGCGCATGCGTGTTCCCTGGGCATGGCCGGCTCCGTTCCATCCTTCTGCACAGGGTATCGCCTCTCTCCGTTTGGTACATCCCCTCCTCCCCCACGCCCGGACTGGGGTGGTAGACGCCGCCTCCGCTCATCGCCCCTCCCCATCGGTTTCCGCGCGAAAAGCCGGGGCGCCTGCGCTGCCGCCGCCGCGTCTGCTGAAGCCTCCGAGATGCCGGCGCGTACCGCCCCAGCCCGGGTGCCCACACTGGCCGTCCCGGCCATCTCGCTGCCCGACGATGTCCGCAGGCG___GCTCAAAGATTTGGAAAGAGACAGCTTAACAGAAAAG___GAATGTGTGAAGGAGAAATTGAATCTCTTGCACGAATTTCTGCAAACAGAAATAAAGAATCAGTTATGTGACTTGGAAACCAAATTACGTAAAGAAGAATTATCCGAG___GAGGGCTACCTGGCTAAAGTCAAATCCCTTTTAAATAAAGATTTGTCCTTGGAGAACGGTGCTCATGCTTACAACCGGGAAGTGAATGGACGTCTAGAAAACGGGAACCAAGCAAGAAGTGAAGCCCGTAGAGTGGGAATGGCAGATGCCAACAGCCCCCCCAAACCCCTTTCCAAACCT)CGCACGCCCAGGAGGAGCAAGTCCGATGGAGAGGCTAAGC___CTGAACCTTCACCTAGCCCCAGGATTACAAGGAAAAGCACCAGGCAAACCACCATCACATCTCATTTTGCAAAGGG|GGCCAACCATATCCCCTTTCCATATTCCAAATCTTTGAACAGCACGAATGACCAAGAAACAAATGTCTCCAATTAAATAAGTGGAAATGCGATGTCATCCTTACCTACACAATCCAGGTTCCTGATGGTTTCCTGCATCACATCTTTGTAGAGATTCTTCTGACAAGGACCCAGCAAAGCCCACTCTTCTCGGGTGAAGTTCACAGCCACATCCTCTAAAGCCACTGAGGC MPARTAPARVPTLAVPAISLPDDVRRRLKDLERDSLTEKECVKEKLNLLHEFLQTEIKNQLCDLETKLRKEELSEEGYLAKVKSLLNKDLSLENGAHAYNREVNGRLENGNQARSEARRVGMADANSPPKPLSKPRTPRRSKSDGEAKPEPSPSPRITRKSTRQTTITSHFAKg|anhipfpyskslnstndqetnvsn* 01BR025 ENSG00000198026.8 ENSG00000229606.2(31382),ENSG00000179242.16(137129) -/- ./- chr20:45965628 chr20:61115132 CDS/splice-site intergenic duplication 1 1 0 6 3 high out-of-frame . . . . ENSG00000198026.8 . ENST00000322927.3 . upstream downstream . ^(GGGTTCCTCCGCAGCGGAGGAAAGAGGATGGCGACCTCGTCGATGCCGGAGTCAGAGAGGAACGTGGCTACGAAAGCCTCGG___AGTGAAGTTCCCAGACCCTACGCCCCGCTGTCAGGCAGCCCGCCGATCAGATGGAGGAGAACGAGGTGGAGAGCAGCAGCGACGCGGCCCCTGGGCCTGGCCGGCCCGAGGAGCCCTCTGAGAGCGGCCTGGGTGTGGGCACCTCAGAAGCCGTGTCCGCCGACAGCAGCGACGCCGCGGCCGCCCCGGGGCAGGCAGAGGCCGATGACTCTGGCGTGGGGCAAAGCTCGGACCGCGGCAGCCGTTCTCAG___GAGGAGGTATCTGAGAGCAGCTCGAGCGCAGACCCCCTGCCTAATAGCTACCTCCCTGATTCATCGTCTGTGTCTCATGGGCCAGTGGCAGGGGTGACAGGCGGTCCCCCAGCACTTGTGCACTCTAGTGCACTCCCAGACCCCAACATGCTGGTGTCCGACTGCACAGCTTCCTCCTCGGACCTGGGCTCGGCCATCGACAAGATCATCGAGTCCACCATCGGGCCCGACCTCATCCAGA___ACTGCATCACTGTGACCAGTGCTGAGGATGGCGGGGCCGAGACCACACGGTACCTGATCCTACAGGGCCCAGATGATG___GAGCCCCCATGACATCACCAATGTCCAGTTCCACCTTGGCCCACAGCCTAGCAGCCATTGAGGCCCTGGCAGATGGCCCCACATCCACATCCACATGCCTGGAGGCACAGGGTGGGCCCAGCTCCCCGGTGCAGCTGCCCCCAGCCTCCGGTGCCGAAGAGCCGGACCTGCAGAGCCTGGAGGCCATGATGGAGGTGGTGGTGGTGCAGCAGTTCAAATGCAAGATGTGCCAGTACCGGAGCAGCACCAAGGCCACACTGCTGCGCCACATGCGGGAACGCCACTTCCGTCCAG___TAGCAGCAGCCGCAGCAGCAGCTGGTAAAAAAGGACGTCTACGGAAGTGGAGCACCTCCACCAAGAGCCAAGAGGAAGAGGGAC)CAGAGGAGGAGGACGATGATGACATTGTAGACGCTGGAGCCATTGATGACCTGGAGG___AGGATAGCGACTATAATCCAGCTGAGGATGAGCCCCGAGGCCGGCAGCTTCGGCTCCAGCGCCCCACCCCCAGTACCCCAAGGCCCCGAAGGAGACCTGGCCGGCCCCGGAAGCTGCCCCGCCTGGAGATCTCAGACCTCCCAGATG|AAGAGATGGGTGTGCCGGCCGATCCATCCTGTTTCCCTTACATCTGTGGTAGCATCTGGTGGACCATTCTAAACACcCCCCACCTTCAACATCGACTGTAGAGAAGGGACTGCCGTCCGTCATTCCCGAGCTTTGCCGGGGGGGGCAGGGGgGGACTTGTGTCTCAGGCTTGCCAGAGGTGGAAGTGGATTTGCCACATGTTCCAGGGCCCCTGACCCCgGCCCTCTGCCCACT MEENEVESSSDAAPGPGRPEEPSESGLGVGTSEAVSADSSDAAAAPGQAEADDSGVGQSSDRGSRSQEEVSESSSSADPLPNSYLPDSSSVSHGPVAGVTGGPPALVHSSALPDPNMLVSDCTASSSDLGSAIDKIIESTIGPDLIQNCITVTSAEDGGAETTRYLILQGPDDGAPMTSPMSSSTLAHSLAAIEALADGPTSTSTCLEAQGGPSSPVQLPPASGAEEPDLQSLEAMMEVVVVQQFKCKMCQYRSSTKATLLRHMRERHFRPVAAAAAAAGKKGRLRKWSTSTKSQEEEGPEEEDDDDIVDAGAIDDLEEDSDYNPAEDEPRGRQLRLQRPTPSTPRPRRRPGRPRKLPRLEISDLPD|eemgvpadpscfpyicgsiwwtilntphlqhrl* 01BR025 ENSG00000196218.13 ENSG00000188293.6(4661),ENSG00000277748.1(13490) +/+ ./- chr19:38567917 chr19:46235904 CDS/splice-site intergenic inversion 7 0 0 10 0 medium out-of-frame . EF-hand_domain_pair(100%),Inositol_1_4_5-trisphosphate/ryanodine_receptor(100%),MIR_domain(100%),RIH_domain(100%),RyR_and_IP3R_Homology_associated(100%),RyR_domain(100%),Ryanodine_Receptor_TM_4-6(100%),SPRY_domain(100%)| . . ENSG00000196218.13 . ENST00000359596.8 . downstream downstream mismappers(1) ^(GCAGTTCCATCTACCTCGCGGGTGCCTCTGGTGTCTCCAGAGGTCTCCGACCCCAGCCCGCCCCCAGCCCTCCCGCCCAGCCCGCAGCCCCCTCCCTCTGTTCCCCGACCTCAGACCCTGGGCTTCCGACCTCGACATCATGGGTGACGCAGAAGGCGAAGACGAGGTCCAGTTCCTGCGGACG___GACGATGAGGTGGTCCTGCAGTGCAGCGCTACCGTGCTCAAGGAGCAGCTCAAGCTCTGCCTGGCCGCCGAGGGCTTCGGCAACCGCCTGTGCTTCCTGGAGCCCACTAGCAACGCGCAG___AATGTGCCCCCCGATCTGGCCATCTGTTGCTTCGTCCTGGAGCAGTCCCTGTCTGTGCGAGCCCTGCAGGAGATGCTGGCTAACACGGTGGAGGCTGGCGTGGAG___TCATCCCAGGGCGGGGGACACAGGACGCTCCTGTATGGCCATGCCATCCTGCTCCGGCATGCACACAGCCGCATG___TATCTGAGCTGCCTCACCACCTCCCGCTCCATGACTGACAAGCTGGCCTTCGATGTGGGACTGCAGGAGGACGCAACAG___GAGAGGCTTGCTGGTGGACCATGCACCCAGCCTCCAAGCAGAGGTCTGAAGGAGAAAAGGTCCGCGTTGGGGATGACATCATCCTTGTCAGTGTCTCCTCCGAGCGCTACCTG___CACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGG___GCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAG___ACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAG___CTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAG___GAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAG___GCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAA___GAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAG___GGGATGCTCTCCATGGTCCTGAATTGCATAGACCGCCTAAATGTCTACACCACTGCTGCCCACTTTGCTGAGTTTGCAGGGGAGGAGGCAGCCGAGTCCTGGAAAGAGATTGTGAATCTTCTCTATGAACTCCTAG___CTTCTCTAATCCGTGGCAATCGTAGCAACTGTGCCCTCTTCTCCACAAACTTGGACTGGCTGGTCAGCAAGCTGGATCGGCTGGAGGCCTCGTCTG___GCATCCTGGAGGTCCTGTACTGTGTCCTCATTGAGAGTCCAGAGGTTCTGAACATCATCCAGGAGAATCACATCAAGTCCATCATCTCCCTCCTGGACAAGCATGGGAGGAACCACAAG___GTCCTGGACGTGCTATGCTCCCTGTGTGTGTGTAATGGTGTGGCTGTACGCTCCAACCAAGATCTTATTACTGAGAACTTGCTGCCTGGCCGTGAGCTTCTGCTGCAGACAAACCTCATCAACTATGTCACCAG___CATCCGCCCCAACATCTTTGTGGGCCGAGCGGAAGGCACCACGCAGTACAGCAAATGGTACTTTGAGGTGATGGTGGACGAGGTGACTCCATTTCTGACAGCTCAGGCCACCCACTTGCGGGTGGGCTGGGCCCTCACCGAGGGCTACACCCCCTACCCTGGGGCCGGCGAGGGCTGGGGCGGCAACGGGGTCGGCGATGACCTCTATTCCTACGGCTTTGATGGACTGCATCTCTGGACAG___GACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCTCCTGGCCCCTGAAGACGTGATCAGCTGCTGCCTGGACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGCTGCCCCGTGCAGGGTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTCTTCCCTGTTGTCAGCTTCTCGGCTGGTGTCAA___GGTGCGGTTCCTCCTTGGTGGCCGCCATGGTGAATTCAAGTTCCTGCCCCCACCTGGCTATGCTCCATGCCATGAGGCTGTGCTCCCTCGAGAGCGACTCCATCTTGAACCCATCAAGGAGTATCGACGGGAGGGGCCCCGGGGGCCTCACCTGGTGGGCCCCAGTCGCTGCCTCTCACACACCGACTTCGTGCCCTGCCCTGTGGACACTGTCCAG___ATTGTCCTGCCGCCCCATCTGGAGCGCATTCGGGAGAAGCTGGCGGAGAACATCCACGAGCTCTGGGCGCTAACCCGCATCGAGCAGGGCTGGACCTACGGCCCG___GTTCGGGATGACAACAAGAGGCTGCACCCGTGTCTTGTGGACTTCCACAGCCTTCCAGAGCCTGAGAGGAACTACAACCTGCAGATGTCTGGGGAGACGCTCAA___GACTCTGCTGGCTCTGGGCTGCCACGTGGGCATGGCGGATGAGAAGGCGGAGGACAACCTGAAGAAGACAAAACTCCCCAAGAC___GTATATGATGAGCAATGGGTACAAGCCGGCTCCGCTGGACCTGAGCCACGTGCGGCTGACGCCGGCGCAGACGACACTGGTGGACCGTCTGGCAGAAAATGGGCACAACGTGTGGGCCCGAGACCGCGTGGGCCAGGGCTGGAGCTACAGCGCAGTGCAGGACATCCCAGCGCGCCGAAACCCTCGGCTGGTGCCCTACCGCCTGCTGGATGAAGCCACCAAGCGCAGCAACCGGGACAGCCTCTGCCAGGCCGTGCGCACCCTCCTGGGCTACGGCTACAACATCGAGCCTCCTGACCAGGAGCCCA___GTCAGGTGGAGAACCAGTCTCGTTGTGACCGGGTGCGCATCTTCCGGGCAGAGAAATCCTATACAGTGCAGAGCGGCCGCTGGTACTTCGAGTTTGAAGCAGTCACCACAGGCGAGATGCGCGTGGGCTGGGCGAGGCCCGAGCTGAGGCCTGATGTAGAGCTGGGAGCTGACGAGCTGGCCTATGTCTTCAATGGGCACCGC___GGCCAGCGCTGGCACTTGGGCAGTGAACCATTTGGGCGCCCCTGGCAGCCGGGCGATGTCGTTGGCTGTATGATCGACCTCACAGAGAACACCATTATCTTCACCCTCAATGGCGAGGTCCTCATGTCTGACTCAGGCTCCGAAACAGCCTTCCGGGAGATTGAGATTGGGGACG___GCTTCCTGCCCGTCTGCAGCTTGGGACCTGGCCAGGTGGGTCATCTGAACCTGGGCCAGGACGTGAGCTCTCTGAGGTTCTTTGCCATCTGTGGCCTCCAGGAAGGCTTCGAGCCATTTGCCATCAACATGCAGCGCCCAGTCACCACCTGGTTCAGCAAAGGCCTGCCCCAGTTTGAGCCAGTGCCCCTTGAACACCCTCACTATGAG___GTATCCCGAGTGGACGGCACTGTGGACACGCCCCCCTGCCTGCGCCTGACCCACCGCACCTGGGGCTCCCAGAACAGCCTGGTGGAGATGCTTTTCCTGCGGCTGAGCCTCCCAGTCCAGTTCCACCAGCACTTCCGCTGCACTGCAGGGGCCACCCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGACGAGGCCCGGGCGGCGGAACCCGACCCTGACTACGAAAACCTGCGCCGCTCAGCTGGGGGCTGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAAGGAGGGCGCCCCCGGGGGCACCCCGCAGGCGGGGGGAGAGGCGCAGCCCGCCAGGGCGGAGAATGAGAAGGATGCCACCACCGAGAAGAACAAGAAGAGAGG___CTTCTTATTCAAGGCCAAGAAGGTCGCCATGATGACCCAGCCACCGGCCACCCCCACGCTGCCCCGACTCCCTCACGACGTGGTGCCTGCAGACAACCGCGATGACCCCGAGATCATCCTCAACACCACCACG___TACTATTACTCCGTGAGGGTCTTTGCTGGACAGGAGCCCAGCTGCGTGTGGGCGGGCTGGGTCACCCCTGACTACCATCAGCACGACATGAGCTTCGACCTCAGCAAGGTCCGGGTCGTGACGGTGACCATGGGGGATGAACAAGGCAACGTCCACAGCAG___CCTCAAGTGTAGCAACTGCTACATGGTGTGGGGCGGAGACTTTGTGAGTCCCGGGCAGCAGGGCCGGATCAGCCACACGGACCTTGTCATTGGGTGCCTGGTGGACTTGGCCACTGGCTTAATGACCTTTACAGCCAATGGCAAAGAGAGCAACACCTTTTTCCAG___GTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGGGAAGCAGAAG___AACATCATGCCGTTGTCAGCCGCCATGTTCCAAAGCGAGCGCAAGAACCCGGCCCCGCAGTGCCCACCGCGGCTGGAGATGCAGATGCTGATGCCAGTGTCCTGGAGCCGCATGCCCAACCACTTCCTGCAGGTGGAGACGAGGCGTGCCGGCGAGCGGCTGGGCTGGGCCGTGCAGTGCCAGGAGCCGCTGACCATGATGGCGCTGCACATCCCCGAGGAGAACCG___GTGCATGGACATCCTGGAGCTGTCGGAGCGCCTGGACCTGCAGCGCTTCCACTCGCACACCCTGCGCCTCTACCGCGCTGTGTGCGCCCTGGGCAACAATCGCGTGGCGCACGCTCTGTGCAGCCACGTAGACCAAGCTCAGCTGCTGCACGCCCTGGAGGACGCGCACCTGCCAGGCCCACTGCGCGCAGGCTACTATGACCTCCTCATCAGCATCCACCTCGAAAGTGCCTGCCGCAGCCGCCGCTCCATGCTCTCTGAATACATCGTGCCCCTCACGCCTGAGACCCGCGCCATCACGCTCTTCCCTCCTGGAAGGAGCACAGAAAATGGTCACCCCCGGCATGGCCTGCCGGGAGTTGGAGTCACCACTTCGCTGAGGCCCCCGCATCATTTCTCGCCCCCCTGTTTCGTGGCCGCTCTGCCAGCTGCTGGGGCAGCAGAGGCCCCGGCCCGCCTCAGCCCTGCCATCCCGCTGGAGGCCCTGCGGGACAAGGCACTGAGGATGCTGGGGGAGGCGGTGCGCGACGGTGGGCAGCACGCTCGCGACCCCGTCGGGGGCTCCGTGGAGTTCCAGTTTGTGCCTGTGCTCAAGCTCGTGTCCACCCTGCTG___GTGATGGGCATCTTTGGCGATGAGGATGTGAAACAGATCTTGAAGATGATTGAGCCTGAGGTCTTCACTGAGGAAGAAGAGGAGGAGGACGAGGAGGAAGAGGGTGAAGAGGAAGATGAGGAGGAGAAGGAGGAGGATGAGGAGGAAACAGCACAGGAAAAGGAAGATGAGGAAAAAGAGGAAGAGGAGGCAGCAGAAGGGGAGAAAGAAGAAGGCTTGGAGGAAGGGCTGCTCCAGATGAAGTTGCCAGAGTCTGTGAAGTTACAG___ATGTGCCACCTGCTGGAGTATTTCTGTGACCAAGAGCTGCAGCACCGTGTGGAGTCCCTGGCAGCCTTTGCGGAGCGCTATGTGGACAAGCTCCAGGCCAACCAGCGGAGCCGCTATGGCCTCCTCATAAAAGCCTTCAGCATGACCGCAGCAGAGACTGCAAGACGTACCCGCGAGTTCCGCTCCCCACCCCAGGAACAG___ATCAATATGCTATTGCAATTCAAAGATGGTACAGATGAGGAAGACTGTCCTCTCCCTGAAGAGATTCGACAGGATTTGCTTGACTTTCATCAAGACCTGCTGGCACACTGTG___GAATTCAGCTAGATGGAGAGGAGGAGGAACCAGAGGAAGAGACCACCCTGGGCAGCCGCCTCATGAGCCTGTTGGAGAAAGTGCGGCTGGTGAAGAAGAAGGAAGAGAAACCTGAGGAGGAGCGGTCAGCAGAGGAGAGCAAACCCC___GGTCCCTGCAGGAGCTGGTGTCCCACATGGTGGTGCGCTGGGCCCAAGAGGACTTCGTGCAGAGCCCCGAGCTGGTGCGGGCCATGTTCAGCCTCCTGCACCGGCAGTACGACGGGCTGGGTGAGCTGCTGCGTGCCCTGCCGCGGGCGTACACCATCTCACCGTCCTCCGTGGAAGACACCATGAGCCTGCTCGAGTGCCTCGGCCAGATCCGCTCGCTGCTCATCGTGCAGATGGGCCCCCAGGAGGAGAACCTCATGATCCAGAGCATCGG___GAACATCATGAACAACAAAGTCTTCTACCAACACCCGAACCTGATGAGGGCGCTGGGCATGCACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTCCAAG___GAGATCCGCTTCCCCAAGATGGTGACAAGCTGCTGCCGCTTCCTCTGCTATTTCTGCCGAATCAGCCGGCAGAACCAGCGCTCCATGTTTGACCACCTGAGCTACCTGCTGGAGAACAGTGGCATCGGCCTGG___GCATGCAGGGCTCCACGCCCCTGGACGTGGCTGCTGCCTCCGTCATTGACAACAATGAGCTGGCCTTGGCATTGCAGGAGCAGGACCTGGAAAAG___GTTGTGTCCTACCTGGCAGGCTGTGGCCTCCAGAGCTGCCCCATGCTTGTGGCCAAAGGGTACCCAGACATTGGCTGGAACCCCTGTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGCTGTCTTCGTCAACG___GCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGAAGCCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCGAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCA___CTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCAT___CTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAG___ATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCACGTGCTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACG___GCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAACCGCTACCTGTGCCTGGCCGTGCTGCCGCTCATCACCAAGTGTGCGCCGCTCTTTGCGGGCACAGAACACCGCGCCATCATGGTGGACTCTATGCTGCATACCGTGTACCGCCTGTCTCGGGGTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAG___GTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAG___CTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAG___AAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAA___TGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAG___ATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAG___GACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAG___ACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAG___GCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAG___GCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAG___AGGCCTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTGCAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGG___AGGCTGTGGTCAGCAGTGGGCGAGTGGAAAAGTCCCCACATGAACAGGAGATTAAATTCTTTGCCAAG___ATCCTGCTCCCTTTGATCAACCAGTACTTCACCAACCACTGCCTCTATTTCTTGTCCACTCCGGCTAAAGTGCTGGGCAGCGGTGGCCACGCCTCTAACAAGGAGAAGGAAATGATCACCAG___CCTCTTCTGCAAACTTGCTGCTCTCGTCCGCCACCGAGTCTCTCTCTTTG___GGACAGACGCCCCAGCTGTGGTCAACTGTCTTCACATCCTGGCCCGCTCCCTGGATGCCAG___GACAGTGATGAAGTCAGGCCCTGAGATCGTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGCCTCGGAGGACATCGAGAAGATGGTGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGGCGCGCACCCAGGTGAAAGGCGTGGGCCAGAACCTCACCTACACCACTGTGGCACTGCTGCCGGTCCTCACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCC___TGGACGACGTCCAGGTCTCTTGCTACCGAACGCTGTGCAGTATCTACTCCCTGGGAACCACCAAGAACACTTATGTGGAAAA___GCTTCGGCCAGCCCTCGGGGAGTGCCTGGCCCGTCTGGCAGCAGCCATGCCGGTGGCGTTCCTGGAGCCGCAGCTGAACGAGTACAACGCCTGCTCCGTGTACACCACCAAGTCTCCGCGGGAGCGGGCCA___TCCTGGGGCTCCCCAACAGTGTGGAGGAGATGTGTCCCGACATCCCGGTGCTGGAGCGGCTCATGGCAGACATTGGGGGGCTGGCCGAGTCAGGTGCCCGCTACACAGAGATGCCGCATGTCATCGAGATCACGCTGCCCATGCTATGCAGCTACCTGCCCCGATGGTGGGAGCGCGGGCCCGAGGCACCCCCTTCCGCCCTGCCCGCCGGCGCCCCCCCACCCTGCACAGCTGTCACCTCTGACCACCTCAACTCCCTGCTGGGGAATATCCTGAGAATCATCGTCAACAACCTGGGCATTGACGAGGCCTCCTGGATGAAGCGGCTGGCTG___TGTTCGCACAGCCCATTGTGAGCCGTGCACGGCCGGAGCTCCTGCAGTCCCACTTCATCCCAACTATCGGGCGGCTGCGCAAGAGGGCAGGGAAGGTGGTGTCCGAGGAGGAGCAGCTGCGCCTGGAGGCCAAGGCGGAGGCCCAGGAGGGCGAGCTGCTGGTGCGGGACGAGTTCTCTGTGCTCTGCCGGGACCTCTACGCCCTGTATCCGCTGCTCATCCGCTACGTGGACAACAACAG___GGCGCAGTGGCTGACGGAGCCGAATCCCAGCGCGGAGGAGCTGTTCAGGATGGTGGGCGAGATCTTCATCTACTGGTCCAAGTCCCAC___AACTTCAAGCGCGAGGAGCAGAACTTTGTGGTCCAGAATGAGATCAACAACATGTCCTTCCTGACTGCTGACAACAAAAGCAAAATGGCTAAG___GCGGGAGATATACAG___TCCGGTGGCTCGGACCAGGAACGCACCAAGAAGAAGCGCCGGGGGGACCGGTACTCTGTGCAGACGTCACTGATCGTGGCCACACTGAAGAAGATGCTGCCCATCGGCCTGAATATGTGTGCGCCCACCGACCAAGACCTCATCACGCTGGCCAAGACCCGTTACGCCCTG___AAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAG___GTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAG___ACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCAC___GCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCA___AAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAG___CAAACTGGATGAGGATTACCTGTACATGGCCTATGCTGATATCATGGCAAAG___AGCTGCCACCTGGAGGAGGGAGGGGAGAACGGTGAAGCTGAAGAGGAGGTTGAGGTCTCCTTTGAG___GAGAAACAGATGGAGAAGCAGAGGCTCTTGTACCAGCAAGCACGGCTGCACACCCGGGGGGCGGCCGAGATGGTGCTGCAGATGATCAGTGCCTGCAAAG___GAGAGACAGGTGCCATGGTGTCCTCCACCCTGAAGCTGGGCATCTCCATCCTCAATGGAGGCAATGCTGAGGTCCAGCAG___AAAATGCTGGATTATCTTAAGGACAAGAAGGAAGTTGGCTTCTTCCAGAGTATCCAGGCACTGATGCAAACATGCAG___CGTCCTGGATCTCAATGCCTTTGAGAGACAGAACAAGGCCGAGGGGCTGGGCATGGTGAATGAGGATGGCACTG___TCATCAATCGCCAGAACG___GAGAGAAGGTCATGGCGGATGATGAATTCACACAAGACCTGTTCCGATTCCTACAATTGCTCTGTGAGGGGCACAATAATG___ATTTCCAGAACTACCTACGGACACAGACAGGGAACACGACCACTATTAACATCATCATTTGCACTGTGGACTACCTCCTGCGGCTGCAG___GAATCCATCAGCGACTTCTACTGGTACTACTCGGGCAAGGATGTCATTGAAGAGCAGGGCAAGAGGAACTTCTCCAAAGCCATGTCGGTGGCTAAGCAGGTGTTCAACAGCCTCACTGAGTACATCCAG___GGTCCCTGCACCGGGAACCAGCAGAGCCTGGCGCACAGTCGCCTATGGGACGCAGTGGTGGGATTCCTGCACGTGTTCGCCCACATGATGATGAAGCTCGCTCAG___GACTCAAGCCAGATCGAGCTGCTGAAGGAGCTGCTGGATCTGCAGAAGGACATGGTGGTGATGTTGCTGTCGCTACTAGAAG___GGAACGTGGTGAACGGCATGATCGCCCGGCAGATGGTGGACATGCTCGTGGAATCCTCATCCAATGTGGAGATGATCCTCAAGTTCTTCGACATGTTCCTGAAACTCAAGGACATTGTGGGCTCTGAAGCCTTCCAGGACTACGTAACGGATCCCCGTGGCCTCATCTCCAAGAAGGACTTCCAGAAG___GCCATGGACAGCCAGAAGCAGTTCAGCGGTCCAGAAATCCAGTTCCTGCTTTCGTGCTCCGAAGCGGATGAGAACGAAATGATCAACTGCGAAGAGTTCGCCAACCGCTTCCAGGAGCCAGCACGCGACATCGGCTTCAACGTGGCGGTGCTGCTGACCAACCTGTCGGAGCATGTGCCGCATGACCCTCGCCTGCACAACTTCCTGGAGCTGGCCGAGAGCATCCTTGAGTACTTCCGCCCCTACCTGGGCCGCATCGAGATCATGGGCGCGTCACGCCGCATCGAGCGCATCTACTTCGAGATCTCAGAGACCAACCGCGCCCAGTGGGAGATGCCCCAG___GTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACCATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTGCGGCGGCTTACGGCCCGCGAGGCGGCCACCGCAGTGGCGGCGCTGCTCTGGGCAGCAGTGACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGCTCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTGACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACGACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGG___GTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAG)CCGA___TGCCGAGAATGGGGAGAAGGAAGAAGTTCCCGAGCCCACACCAGAGCCCCCCAAGAAGCAAGCACCTCCCTCACCCCCTCCAAAGAAGGAGGAAGCTGGAGGCGAATTCTGGGGAGAACTGGAGGTGCAGAGGGTGAAGTTCCTG|ATGCAACTCATGAGAAGCTGGAGGACCTGGAGAAGCTGGCAACTCAAAAAGGCCAAAGGGTGC MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEPTSNAQNVPPDLAICCFVLEQSLSVRALQEMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYLSCLTTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQRSEGEKVRVGDDIILVSVSSERYLHLSTASGELQVDASFMQTLWNMNPICSRCEEGFVTGGHVLRLFHGHMDECLTISPADSDDQRRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLRVRHVTTGQYLALTEDQGLVVVDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHVASGLWLTYAAPDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSFSGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPSEDLQHEEKQSKLRSLRNRQSLFQEEGMLSMVLNCIDRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELLASLIRGNRSNCALFSTNLDWLVSKLDRLEASSGILEVLYCVLIESPEVLNIIQENHIKSIISLLDKHGRNHKVLDVLCSLCVCNGVAVRSNQDLITENLLPGRELLLQTNLINYVTSIRPNIFVGRAEGTTQYSKWYFEVMVDEVTPFLTAQATHLRVGWALTEGYTPYPGAGEGWGGNGVGDDLYSYGFDGLHLWTGHVARPVTSPGQHLLAPEDVISCCLDLSVPSISFRINGCPVQGVFESFNLDGLFFPVVSFSAGVKVRFLLGGRHGEFKFLPPPGYAPCHEAVLPRERLHLEPIKEYRREGPRGPHLVGPSRCLSHTDFVPCPVDTVQIVLPPHLERIREKLAENIHELWALTRIEQGWTYGPVRDDNKRLHPCLVDFHSLPEPERNYNLQMSGETLKTLLALGCHVGMADEKAEDNLKKTKLPKTYMMSNGYKPAPLDLSHVRLTPAQTTLVDRLAENGHNVWARDRVGQGWSYSAVQDIPARRNPRLVPYRLLDEATKRSNRDSLCQAVRTLLGYGYNIEPPDQEPSQVENQSRCDRVRIFRAEKSYTVQSGRWYFEFEAVTTGEMRVGWARPELRPDVELGADELAYVFNGHRGQRWHLGSEPFGRPWQPGDVVGCMIDLTENTIIFTLNGEVLMSDSGSETAFREIEIGDGFLPVCSLGPGQVGHLNLGQDVSSLRFFAICGLQEGFEPFAINMQRPVTTWFSKGLPQFEPVPLEHPHYEVSRVDGTVDTPPCLRLTHRTWGSQNSLVEMLFLRLSLPVQFHQHFRCTAGATPLAPPGLQPPAEDEARAAEPDPDYENLRRSAGGWSEAENGKEGTAKEGAPGGTPQAGGEAQPARAENEKDATTEKNKKRGFLFKAKKVAMMTQPPATPTLPRLPHDVVPADNRDDPEIILNTTTYYYSVRVFAGQEPSCVWAGWVTPDYHQHDMSFDLSKVRVVTVTMGDEQGNVHSSLKCSNCYMVWGGDFVSPGQQGRISHTDLVIGCLVDLATGLMTFTANGKESNTFFQVEPNTKLFPAVFVLPTHQNVIQFELGKQKNIMPLSAAMFQSERKNPAPQCPPRLEMQMLMPVSWSRMPNHFLQVETRRAGERLGWAVQCQEPLTMMALHIPEENRCMDILELSERLDLQRFHSHTLRLYRAVCALGNNRVAHALCSHVDQAQLLHALEDAHLPGPLRAGYYDLLISIHLESACRSRRSMLSEYIVPLTPETRAITLFPPGRSTENGHPRHGLPGVGVTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSPAIPLEALRDKALRMLGEAVRDGGQHARDPVGGSVEFQFVPVLKLVSTLLVMGIFGDEDVKQILKMIEPEVFTEEEEEEDEEEEGEEEDEEEKEEDEEETAQEKEDEEKEEEEAAEGEKEEGLEEGLLQMKLPESVKLQMCHLLEYFCDQELQHRVESLAAFAERYVDKLQANQRSRYGLLIKAFSMTAAETARRTREFRSPPQEQINMLLQFKDGTDEEDCPLPEEIRQDLLDFHQDLLAHCGIQLDGEEEEPEEETTLGSRLMSLLEKVRLVKKKEEKPEEERSAEESKPRSLQELVSHMVVRWAQEDFVQSPELVRAMFSLLHRQYDGLGELLRALPRAYTISPSSVEDTMSLLECLGQIRSLLIVQMGPQEENLMIQSIGNIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGESKEIRFPKMVTSCCRFLCYFCRISRQNQRSMFDHLSYLLENSGIGLGMQGSTPLDVAAASVIDNNELALALQEQDLEKVVSYLAGCGLQSCPMLVAKGYPDIGWNPCGGERYLDFLRFAVFVNGESVEENANVVVRLLIRKPECFGPALRGEGGSGLLAAIEEAIRISEDPARDGPGIRRDRRREHFGEEPPEENRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIRAILRSLVPLEDLVGIISLPLQIPTLGKDGALVQPKMSASFVPDHKASMVLFLDRVYGIENQDFLLHVLDVGFLPDMRAAASLDTATFSTTEMALALNRYLCLAVLPLITKCAPLFAGTEHRAIMVDSMLHTVYRLSRGRSLTKAQRDVIEDCLMSLCRYIRPSMLQHLLRRLVFDVPILNEFAKMPLKLLTNHYERCWKYYCLPTGWANFGVTSEEELHLTRKLFWGIFDSLAHKKYDPELYRMAMPCLCAIAGALPPDYVDASYSSKAEKKATVDAEGNFDPRPVETLNVIIPEKLDSFINKFAEYTHEKWAFDKIQNNWSYGENIDEELKTHPMLRPYKTFSEKDKEIYRWPIKESLKAMIAWEWTIEKAREGEEEKTEKKKTRKISQSAQTYDPREGYNPQPPDLSAVTLSRELQAMAEQLAENYHNTWGRKKKQELEAKGGGTHPLLVPYDTLTAKEKARDREKAQELLKFLQMNGYAVTRGLKDMELDSSSIEKRFAFGFLQQLLRWMDISQEFIAHLEAVVSSGRVEKSPHEQEIKFFAKILLPLINQYFTNHCLYFLSTPAKVLGSGGHASNKEKEMITSLFCKLAALVRHRVSLFGTDAPAVVNCLHILARSLDARTVMKSGPEIVKAGLRSFFESASEDIEKMVENLRLGKVSQARTQVKGVGQNLTYTTVALLPVLTTLFQHIAQHQFGDDVILDDVQVSCYRTLCSIYSLGTTKNTYVEKLRPALGECLARLAAAMPVAFLEPQLNEYNACSVYTTKSPRERAILGLPNSVEEMCPDIPVLERLMADIGGLAESGARYTEMPHVIEITLPMLCSYLPRWWERGPEAPPSALPAGAPPPCTAVTSDHLNSLLGNILRIIVNNLGIDEASWMKRLAVFAQPIVSRARPELLQSHFIPTIGRLRKRAGKVVSEEEQLRLEAKAEAQEGELLVRDEFSVLCRDLYALYPLLIRYVDNNRAQWLTEPNPSAEELFRMVGEIFIYWSKSHNFKREEQNFVVQNEINNMSFLTADNKSKMAKAGDIQSGGSDQERTKKKRRGDRYSVQTSLIVATLKKMLPIGLNMCAPTDQDLITLAKTRYALKDTDEEVREFLHNNLHLQGKVEGSPSLRWQMALYRGVPGREEDADDPEKIVRRVQEVSAVLYYLDQTEHPYKSKKAVWHKLLSKQRRRAVVACFRMTPLYNLPTHRACNMFLESYKAAWILTEDHSFEDRMIDDLSKAGEQEEEEEEVEEKKPDPLHQLVLHFSRTALTEKSKLDEDYLYMAYADIMAKSCHLEEGGENGEAEEEVEVSFEEKQMEKQRLLYQQARLHTRGAAEMVLQMISACKGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVGFFQSIQALMQTCSVLDLNAFERQNKAEGLGMVNEDGTVINRQNGEKVMADDEFTQDLFRFLQLLCEGHNNDFQNYLRTQTGNTTTINIIICTVDYLLRLQESISDFYWYYSGKDVIEEQGKRNFSKAMSVAKQVFNSLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMMMKLAQDSSQIELLKELLDLQKDMVVMLLSLLEGNVVNGMIARQMVDMLVESSSNVEMILKFFDMFLKLKDIVGSEAFQDYVTDPRGLISKKDFQKAMDSQKQFSGPEIQFLLSCSEADENEMINCEEFANRFQEPARDIGFNVAVLLTNLSEHVPHDPRLHNFLELAESILEYFRPYLGRIEIMGASRRIERIYFEISETNRAQWEMPQVKESKRQFIFDVVNEGGEAEKMELFVSFCEDTIFEMQIAAQISEPEGEPETDEDEGAGAAEAGAEGAEEGAAGLEGTAATAAAGATARVVAAAGRALRGLSYRSLRRRVRRLRRLTAREAATAVAALLWAAVTRAGAAGAGAAAGALGLLWGSLFGGGLVEGAKKVTVTELLAGMPDPTSDEVHGEQPAGPGGDADGEGASEGAGDAAEGAGDEEEAVHEAGPGGADGAVAVTDGGPFRPEGAGGLGDMGDTTPAEPPTPEGSPILKRKLGVDGVEEELPPEPEPEPEPELEPEKADAENGEKEEVPEPTPEPPKKQAPPSPPPKKEEAGGEFWGELEVQRVKFL|mqlmrswrtwrswqlkkakg 01BR025 ENSG00000254901.8 ENSG00000105011.9 -/- -/- chr19:19192081 chr19:14126237 CDS/splice-site CDS/splice-site deletion 0 4 0 19 31 medium in-frame . |ASF1_like_histone_chaperone(100%) . . ENSG00000254901.8 ENSG00000105011.9 ENST00000462790.8 ENST00000263382.8 upstream downstream . ^(GGTGCC)GTTTCCCGGTTCGCTCGGCCGCGGTCGCTATGGAGGAGCCGGAGATGCAGCTCAAGGGGAAGAAAG|ACCTGGAGTGGAAGATCATTTATGTTGGCTCGGCTGAGAGTGAGGAATTTGATCAGATCCTAGACTCGGTGCTGGTGGGCCCTGTGCCAGCAGGGAGACACATGTTTGTCTTTCAG___GCCGACGCCCCCAACCCATCCCTCATCCCAGAGACTGATGCCGTGGGTGTGACTGTGGTCCTCATCACCTGCACCTACCATGGACAGGAGTTCATCCGAGTGGGCTACTAC(GTCAACAACGAGTACCTCAACCCTGAGCTGCGTGAGAACCCGCCCATGAAGCCAGATTTCTCCCAG___CTCCAGCGGAACATCTTGGCCTCGAACCCCCGGGTGACCCGCTTCCATATCAACTGGGACAACAACATGGACAGGCTGGAGGCCATAGAGACCCAGGACCCCTCCCTGGGCTGCGGCCTCCCACTCAACTGCACTCCTATCAAGGGCTTGGGGCTCCCTGGCTGCATCCCTGGCCTCCTCCCTGAGAACTCCATGGACTGCATCTAACTGCAGGAACCCAGAGTGTCCCAGCACGCCGGGAGGGGCAACCAGGCCTCCCAGCGAGTCCTGCAGGGCCCATCTAGAGGACTTTGGGGGCCATCAGCTGCAATCCAGGTCTGTCAAACTCAGCCCCTAGGAAAGAACAGGCCTTGGGTCTCCCCTAGTCCTGGCCAGAAGGATGATCTCGCTTTTCCTCTACAGGCCTATAAGAAGCAGGTACTTCAGTTCTAAATTCTGACTTGTGTTCTTTTCGTCTTCATAAATTCTAACTAAGGCCACTGTGCCACTGTGCACCCTTGAGTACCATTGATCCAAAGCTTTCCCACAGACCTCCCTGGCCCACCTAGAGGCTTTCTTGGTCAGTGCCTGTCAAGGCTCCAGTCCTGCTGAGCCAAAGGCTTTGTCATTCCTTTCTCTTCCTGTACATCTGAGCAGACCCACTCCAGCTTTCTGGTGTCACAGGCGGGAATGTTAGTTAGTAGGTAGACTTAGATCCCATTTCTGTCCTGCTCCCAGGAAGATTCTTAGGTCCTCTTCAATCCAGCAGCCCCTCCCAGAGGTGTGATCAGCAGGATGCTGAGGAACCATGTTGCCTTTCCTGTCAATCACAGCCACCTTCCTGTTATCTCCTAAATGGATCTGGCTTTTCCTGGAGGCTGCCATGGTTGGAAGATGGTATCAGAGGGCCTGCCTGGGCAGTCTGTCTCCGGGCCAGGGTCAGGGACCCTCTGCCTCTGGCAGCCTTAACCTGTCCTCTGCTAGGACCAGGGTGATTTCAAGCCAGGGAAGCAACTGGGACCCTGAAAACTGTCCCTCCCCAGCCCGCTCCCCCTCTCTGTGCCCTGGTCCCCTTGCTGCCATGTGGATGCTGTTGTGATTGCTGTTTGTATATTATCAAAATGTTTTTATATTAAAAATGTTTGGTCTGAAAATTAAAAGCACTTCATTTAGAA)$ MEEPEMQLKGKK|dLEWKIIYVGSAESEEFDQILDSVLVGPVPAGRHMFVFQADAPNPSLIPETDAVGVTVVLITCTYHGQEFIRVGYYVNNEYLNPELRENPPMKPDFSQLQRNILASNPRVTRFHINWDNNMDRLEAIETQDPSLGCGLPLNCTPIKGLGLPGCIPGLLPENSMDCI* 01BR025 ENSG00000141293.16 ENSG00000276234.5 -/- +/+ chr17:48345905 chr17:37423509 CDS/splice-site CDS/splice-site inversion 0 4 0 169 61 medium in-frame . |Myb-like_DNA-binding_domain(100%),SWIRM_domain(100%) . . ENSG00000141293.16 ENSG00000276234.5 ENST00000336915.11 ENST00000615182.5 upstream upstream . ^(ACAGGTGCCTCGCGGTGCAGCCGGGTCGCCTTCCAGCCCGTCCGCCTCCCGACCAGGGCCCGCGCCCCGTCCCGCCTCTCTCCCGCCCAGCCAAATGCAGGCCGCCGCCCTCCCTGAGGAGATCCGTTGGCTCCTGGAAG___ATGCTGAAGAGTTTCTGGCAGAAGGTTTGCGGAATGAGAACCTCAGCGCTGTTGCAAGGGATCACAGAGACCATATTCTACGGGGCTTTCAGCAAATCAAAGCCAG___GTACTATTGGGATTTTCAGCCCCAAG___GGGGAGACATTGGACAGGACAGCTCTGA)TGATAATCACAGCGGGACTCTTGGCCTGTCCCTCACATCCGATGCACCCTTTTTGTCAGATTATCAGGATGAGG|ATGATCCCTCTGATAAGCCACCTTGCCGAGGCTGCTCCTCCTACCTCATGGAGCCTTATATCAAGTGTGCTGAATGTGGGCCACCTCCTTTTTTCCTCTGCTTGCAG___TGTTTCACTCGAGGCTTTGAGTACAAGAAACATCAAAGCGATCATACTTATGAAATAATG___ACTTCAGATTTTCCTGTCCTTGATCCCAGCTGGAC(TGCTCAAGAAGAAATGGCCCTTTTAGAAGCTGTGATGGACTGTGGCTTTGGAAATTG___GCAGGATGTAGCCAATCAAATGTGCACCAAGACCAAGGAGGAGTGTGAGAAGCACTATATGAAGCATTTCATCAATAACCCTCTGTTTGCATCTACCCTGCTGAACCTGAAACAAGCAGAGGAAGCAAAAACTGCTGACACAGCCATTCCATTTCACT___CTACAGATGACCCTCCCCGACCTACCTTTGACTCCTTGCTTTCTCGGGACATGGCCGGGTACATGCCAGCTCGAGCAGATTTCATTGAG___GAATTTGACAATTATGCAGAATGGGACTTGAGAGACATTGATTTTGTTGAAGATGACTCGGACATTTTACATG___CTCTGAAGATGGCTGTGGTAGATATCTATCATTCCAGGTTAAAGGAGAGACAAAGACGAAAAAA___AATTATAAGAGACCATGGATTAATCAACCTTAGAAAGTTTCAAT___TAATGGAACGGCGGTATCCCAAGGAGGTCCAGGACCTGTATGAAACAATGAGGCGATTTGCAAGAATTGTGGGGCCAGTGGAACATGACAAATTCATTGAAAGCCATGCAT___TGGAATTTGAACTCCGAAGGGAAATCAAGAGGCTCCAAGAATACAGGACAGCAGGCATTACCAATTTTTGTA___GTGCCAGAACCTACGATCACCTCAAGAAGACACGGGAGGAAGAGCGCCTTAAACGCACTATGCTCTCAGAAGTTCTCCAGTATATCCAGGACAGTAGTGCTTGCCAGCAGTGGCTCCGCCGGCAAGCTGACAT___TGATTCCGGCCTGAGTCCTTCCATTCCAATGGCTTCGAATTCAG___GTAGACGGAGTGCACCACCCTTGAACCTCACTGGCCTCCCTGGCACAGAGAAGCTGAATGAAAAAGAAAAGGAG___CTCTGTCAGATGGTGAGGTTGGTCCCTGGAGCCTATTTAGAATACAAATCTGCTCTATTGAACGAATGTAACAAGCAAGGAGGCTTAAGACTGGCGCAGGCAAGAGCACTCATCAAGATAGATGTGAACAAAACCCGGAAAATCTATGATTTCCTCATCAGAGAAGGATACATCACTAAAGGCTAAGGCTCCAAGAGCTTGGGATCAGAAGTCAGAAGTTTGGAATGTGGTGGGTCAAAGGACAATATGGGTGGGCATTCTGGAGAGTTGTTTTTCAGCTGAATTCTCATGGTGAAAACAGGGGAAAGGACAAAGGAAACCTTAAGTTGTATTGTCTACTTTCTTCTCCATCCTGCTTTAAAACACTCCTGTTGTTGGTATTATGCTGCAGAGTTGTGTGCTACATAAGCTATTATTAAATGTGAGTGGGCATTCATTCCTAACACCTCTTGTAACTAAAAGAACCATAGTACCTCACATCACAGTGCTGGTAGAAATGGAACTAAACCACAGTCTGTAATCCCAGGAGTCCAGCTCAGATCCTTATATTGCGAGGTAAGTTTGCTGATTATCTGTCTTGCCTTCAAACACTGCAGACAGATTTAAAATAAAGAGAAAGGTTTTAGAGCATAAGAAAGCTCTCGTTGAAGGATTTTTTAAGCTGACAACTTTTTTTTTTTTTTTTTGAGACAGAGTTTGCTCTTGTCCTCCAGGCTGGAGTGTGATGGCAAGATCTCAGCTCACTACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGTGTCCACCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTTGTCATGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCATCGCGCCCGGCCTAAGCTGACAACTTTTATGAGTAAAGGGGAAGAAAATATCCTTATGATGGTCTTATCCCAAACTGCATCTTTAACTTCGGCCGGGCAAGGTGGCTCACCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACAGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACACAGGAGGCAGAGGTTGCAGCGAGCTGAGATCACGCCACTGTGCTCCAGCCTGGGCAACAAAGTGAGACTCTGTCTCAAAAAAAAAAAAACAAAAAAAAACCTTTAATGTCTGGCTTTGTACTTTGCAGTCTGCCTGTCTAATCTGCAGTAGTCTTTTGAGGAGGTGGCACCGGATATAACATGTCTCTGTTATTTTTAGAATTAATTAAAATGTTTTGCTATTTAATTTGTGGGTGTGTCAAATATTCTGGTAACTGAAACACACTTAAGGTGTTGGATGCCTGCCCCATCACGCTGCACTGTCTGCTGTCACATGTGTCCTGAACTCACCCTGTTTTTGCCCTGGGTTTCCCAGGATACCAAGCCCCTGAGGATGGAGATGATGCAACAAACCTCAGCTTTGCTTGGATTGTGACTTGAACCCTATTTCTCAATGGTGAAAGGCTAGCCTGCAATAAAAGCTGCTTTTAAAACAGAAGTAAAGCAGCTTTATATATGGGACTCACTAGATATGAGGGTAAGTAGCCCCACCACATGTAAAACTTGGTCCTCAAACGTTTCTGCAGAATAAGAAGCCAAACTTATGGTTATCTTGTTTCTGTTAGAAACAAAGTTGTATATAGAAATAACTTCGTCAGAATCGACACAAATCACATCGAATAGTTGACTGTTTAATTCCTTCTACATTCAAATATCTAATTAAAATACTGTGTGCTTTGTTGGAAGCATCTGCTCAAACTTTTGACTGTTGTAAATATGCATGCAGCTGGGAAGGGATTCATCTAAGGGATAAGAAATGAAAAAGACACTCTAAGGACCTGAGGGAATTCAAATAGAGGACTTCGATTTTTTAAAAAGAATGACGTGGAAATGACCTGTTTTCCTTGTAAAATCATATCTCGTAGAAAACATTTTACCACTACCATCACCCCTAGTTGGTTGTGAAGTGATTGCCTCTTATCCCTGAAAGGAAACTCCTGTTCTGAAAAGTTGGGATGCATTAGCCATCAGTGTTAGGTGACGTCTGTTGTAGTCTGAAGAGTCCTTAACCTTGATTAAGGAAGGCTTCCTGGGAGAGGTGGGCTTTTGGGGCAATTATATGATAGAGAAGAGAGAGAAAAATGGCAGATGGAAGTGGGAGACAATTCCACACACAGGGGGTGGAGAATGATGTGGAGGCAGCAGTGGGTGTAAGGACAATGGTGCCAAGAGATTTATTTGGCTAGAACACAAGGGGCAGCTGGGTAGTTAGGAGTGGGAGGATGGTAGGACAGTCTGACAGAAACCTTGGAAACAGTTGAACTCTGAAAAGCTGATGGCAAATCAGATTTCATGAGGAAAATGGCATGGTTGAAAATAGTAATAGAAAAATAAGACTGAAGTTTTAAATGACTGGATTTTTGAAAGTAGGATTATTATTTCTTTGGTATACCGAACTTTGCAAAGATACGTAGCATTGCATCCTTCCTCTTTGCTTCTAGACAGGGTTGGCCATAAACCAACTACACTGATAGAGGTCTCTCCAGATTGTCTCAGAAGAGAGAGTTTACCCTGAAACTTAATGACATGAATAAAACCTGTTTACTGAAATTTTTATTGCAATTTAACGTTAAAAGTTTCTGCTGGAGTTTTATGCATATTTTTCTCTCTAAGTGGTGGGAAATAAAGAACAAATCTCTTTCCA)$ MQAAALPEEIRWLLEDAEEFLAEGLRNENLSAVARDHRDHILRGFQQIKARYYWDFQPQGGDIGQDSSDDNHSGTLGLSLTSDAPFLSDYQDE|dDPSDKPPCRGCSSYLMEPYIKCAECGPPPFFLCLQCFTRGFEYKKHQSDHTYEIMTSDFPVLDPSWTAQEEMALLEAVMDCGFGNWQDVANQMCTKTKEECEKHYMKHFINNPLFASTLLNLKQAEEAKTADTAIPFHSTDDPPRPTFDSLLSRDMAGYMPARADFIEEFDNYAEWDLRDIDFVEDDSDILHALKMAVVDIYHSRLKERQRRKKIIRDHGLINLRKFQLMERRYPKEVQDLYETMRRFARIVGPVEHDKFIESHALEFELRREIKRLQEYRTAGITNFCSARTYDHLKKTREEERLKRTMLSEVLQYIQDSSACQQWLRRQADIDSGLSPSIPMASNSGRRSAPPLNLTGLPGTEKLNEKEKELCQMVRLVPGAYLEYKSALLNECNKQGGLRLAQARALIKIDVNKTRKIYDFLIREGYITKG* 01BR025 ENSG00000198182.13 ENSG00000028277.21 -/- -/- chr19:37709696 chr19:42092270 CDS/splice-site CDS/splice-site duplication 3 0 0 17 0 medium in-frame . KRAB_box(100%)| . . ENSG00000198182.13 ENSG00000028277.21 ENST00000355202.9 ENST00000389341.9 upstream downstream . ^(GGCCACTCCCAGAAGTCTCCGGGGCTCGAGCGGTGGGTGGGAGGCGCGGTCCAAGTGGTCGCTGCCGTATTTCTCGTAGGTTTTTAGGATTCTGGACTCCATTTCTCACCGGTACCTGCGGTCCTGACTGTTCTGGCTTGGACTACATATTACAAAGGCAACGGAGAAAACTTGGACCCCTGGCTCCGGTTCCGGGACCTTTTGGTTCCACCTGAAGAAGGCGGCGCAGGTCACTGCGGGAGCCTCTGCAGCCCCAGCCCGCCGCCCGCGTGGTACCCTGCGTGGCGGTGAGAGTGGGGCTGCAGGAGGCGCTCAGAGCGCGGAGGCCCCCAGGCGGGCCGGGCGAGTCTCCCGCCTCCTCAGGCCCTAGGGTGCTGGAGCTGCGGAGGAGGGGCCCGTCTCTAGGAGACAGGCGGGGAGCGTGAGAGACCGCGCAGCGGCGACAGGACCGGCTTGCCTGTGTGACGTGGGTGCAGTTGCGGGACTGTGAGGG___GTCTTGGTTCTTTTGACTTTGCTCTTCTGGTAGAGAAACGCCAAGGACTGAT)CAACTCTTGCCAGTCTCAAACCATGgCCTAT___GGATCAATAACATTCGGGGATGTGGCCATAGACTTCTCTCATCAGGAGTGGGAATATCTCAGCCTGGTTCAGAAGACCTTGTACCAGGAGGTGATGATGGAGAACTATGACAACTTAGTCTCATTGG|TTACTACCTTATCCTCAGCTGTGGGGACGCTCCACCCCAGCCGGACAGCTG(GAGGGGGTGGGGGCGGGGGCGGGGCTGCGCCCCCCCTCAATTCCATCCCCTCTGTCACTCCCCCACCCCCGGCCACCACCAACAGCACAAACCCCAGCCCTCAAGGCAGCCACTCGGCTATCGGCTTGTCAGGCCTGAACCCCAGCACGGG___CCCTGGCCTCTGGTGGAACCCTGCCCCTTACCAGCCTTGATGGCAGCGGGAATCTGGTGCTGGGGGCAGCCGGTGCAGCCCCGGGGAGCCCTGGCCTGGTGACCTCGCCGCTCTTCTTGAATCATGCTGGGCTGCCCCTGCTCAGCACCCCGCCTGGTGTGGGCCTGGTCTCAGCAGCGGCTGCGGCTGTGGCAGCCTCCATCTCCAGCAAGTCTCCTGGCCTCTCCTCCTCATCCTCTTCATCCTCATCCTCCTCCTCCTCCACTTGCAGCGAGACGGCAGCACAGACCCCTGGAGGTCCAGGGGGGCCCGAGGCAGGGTCCAAACCTGAGTGAGGGCCAGCCATGCCTCCCCTCCCATTCCTCTGGTCCCTGCCTTGGTCCCTTGCCTGGGAAGAGGGCGAGGAGGCCAGTGGTGGGGACGCAGAGGGTCCTCAGAGCAGGAGTGACAAGGGAGGAAAGACCAAAAAAACAACCAACCAAAAAAAAAAAAAAAAAGGAAAGAAACTAACCAACAAAAGAGAAAACCAAAAATAATCACAACAGAAACCAGCTGCCCCAAAGGAACCAGAGGTGAAAAACAAACAAAAAAAAACCAAAAACAAACCAAAAAAAAAAAAAACCCACAAAATCAAACAAACCAAAAAACCAGTCGCGAGCCAGACCTCAGCGTGCTCACCCTCACTGCTACGACGCCAAATAAAAACCCCAGCCAGGGGCGGAGAAGCCTCCAGCAGGTCAGACCTCATGCCACCGAGCCCTGGCTGTGGGACCAACCCCCAACCCTGCCTCCCCCGTGGGGGCTACAGAAGGAAAAAGAGAAGATGCCAGCTTCCTAATCCCAGCCCCCAGCCCTGGGCCAGCGAAGACAGGGCACAGCCTGGGCAGATGGGCTGGGGCTTAGCACCACCCACCAAATGTTCTTTTCCAGAAGGTGAAAGAGAAAGGGCCTGAACAACCTTACACCAAATATTCAGTAGCTTCATCCAAAGGATGTACAGAATTTTTAGCATTGTGCTCAACAGAATGTGTCCCTACCATGTGTCCCCTTCTCCCCTGGCCCCCAGCTCTCCCCACCTGGGCAGGGGGTCTTGCTTTAACCTCCTCCCTCCCCCCAGCAGGGGAGAGTTCAAGGGAAGGCCTGCGGACAACTTTTCATCCCCTGTTCCTCCCTCTTTTCCCCTTTGAAGGGTGGGCTAGGCCATTTTGCCAAGTTCTAGCTCTCACAAGTCCCTCCTCAACCCTGTCACCCTCCTCTGCTCTGGAACTGACTCCCTCCCCAGCCTATGGGAAGGTGGAAATTTCAGGCAAGAGGGGATGAAGACATTCAGTTGAGGGCATTCAGTTGTCTTTTTCCATCCTGTCTGTTTCCCTGAAAAAAAAAAAAATTCATATTCCAGTGCCTATCCGTGGGATCCTTCACGTTCTTTGACATTAACCAGAAACCAAAAAGAGAACTCACCTCGCTTTTCCCACCCTGTGCCCCTCTGGTACTGGCGAATGCCTCTCCCTCCCCCCACATGCACGCACGCACACACCCCAGTGGTGGGGTTCCTCGAGATGGCATCCCCATCAGGGTCCATGTGGTGGGGACAGTGCCACAGCCTGTGGTCCCCATCTGAGAGGGCGCGGTGGTGGCCACCACTCCCACAAGACCTCCACAACTCTTGGCTGGACCCTGTGTTTGACCAGCCCCGGACACGTCTCCACTGACGACGGACAGAGGAGAGACACCACTGGGAGCCACCCTGCCCTCCTGCTATTGTGGAGGCCAACAAAGTTTTGAACCGAAAACCAAAAAAACAGAAACAAACAAACAATAAATTTAAACTAGAAAAAAAATTTATATATATATATAAACATATATATATATATATATATAAAAGGGAAAGAAGATGAGGACTCTTCAAGAATAAGATGGAACCGCGAGGCGGAGCCAAGCCCCTGCACCGGTGGTCCAGGCCCTTGTTCCCCAAGGCGGATGGAAGGACGGATGCTTCTTTCTCTTCACAAATACCTCATGGACGTTGTCTTTGGGAAAGCCGGAGGGGGCGGCTGGGGCAGGGCCTGTCCCTCGGCCAGGGCAGATGGAAGCGGGTGGGCGGGGCTGAGAGAGGGTATCAGGGACAGGGGTGAAGAGCCCCAAACTCCCCTCCCAAATCAACTGAAAAAGCTTTAAAAAAAGACAGGAAAAAAAGGAGTAAGAAAGCAAAAAGAACAGATGAAGGAAAACTTAACAACTTTTGGGTGGTTTGATTCCTCCTTTGATTTCTTTTTCGGTTCTCTTTTGTCTGACCTCTCTCCTCCCCTCCTTCCTCTCTCCTCCCCTCCTTCCTCTCTCCTCTCCTCCTTCCTGTCTCCTCTCTCTCCCTTTGCTCTCCTCTCTTCTCTCTCAATCTTGTTCTTTCTGTGTCTCTCCTCAAACCAAAGTGTTGCAGTGAAGGACACGAGCCATTGAAATCAGGGTGGGGCCTGACAGCCGTAGTGTGGCCCCTGCCCCTTGTTGGGCAGGAGCAGAGAGAGAGGAGAGCCCTGAGACCGCAGGGCTTTGGCCTGGGCAGCTTCCACTTTCTGCCGGACACTCTGAGGAGAGGCAGATGGAGCTCCAGGCCTCAGCGTTCTCTTTTTTCCTTGTCTCCCTTCTCCCACCCGGGAAATGAAACTGTTGGGCTGGGCGACGGAGGCAGCAGAGACTCGGCCATTGCAGGGGCCTCTGGGTGCCTTGTCCGGGCAGTGGTGAAGTAGCCGCCCCTCCCACCCCGGCACGATGGGGCCTGGCACCTCGTCTACCCAACCTCACCGGAATGTAAGCATCTCCGCTGAACGACTCCCTGCCCTTACCCTACCTCTGAGTTTGTCCATGTTTATTTCCTGAAGAGAGAAGGGACTGGCAAGAGGGCTTGGGCCCCAGCCCAAGGGTGGAGAGGGGGCCAAGGGCTCCTGACCAAATAGGAAGGACATTTGAGCAGAGCAAAATGAAAGGAATTACAACCAAAAACCCCCTCCGAGAAGACAGGCAGCATGGAAGGCATGGTGGAGATGACTCAAACAAAAACTATGATTCTAGACCAAAAAGGAAAAAAAAAAAAAAAAAAGGAAAGAAAATCCAGGACTCACCACCACCCACTTCATCCTGCTTCCTCCCCATCAAGTCCCACCACCTGGGACCTCTCCCCACCCCAGTATGTGGGAGTGGGGTAAAGAGGAGAGGAGGAGCAGGGGGCAGGGATGGGGCAGATGCCCTGATGTTGGTGGAGGGACCCCTGTGCAGCCGGGGGTGCTGGGGACCCTCCCCATCCAACCCTCACACCTAGGAAAAGAAAAACAAGAAAAAAAAATTCCTGGGAGGGGGAAAAATAACCAAATCCCAAGCTTTAACTACAGCTGTGAAACCAAATATTGGGAAGGGGGTAGGAGGGAGGGAGGGGCAGGTGAGCCCCAGGTCTCCCCCTGGGCCCCCCTCCCCTGAGGACTCGAGATAAGGCACCAAATACCTCATAGAACTTTAATGTTAAAAAAAGGAAACCAAATATCGTTGGCTGGGGGCCAGCCAGGGCAAGGGGCTGGGGGGCTGGAGGGAGCCAGGGTTGGGAAGGTGATGGGGGAATTCATGCCCCCCACCCCCATCTGCCCCTTACACTCTGGTCCCCCGTCTCGACTCCGGGAAACAAAACTATCTCATCGTTTTTATTTTGTGGTCTGTACAGAGCCTGTGTCCGTGTGTCTGTGTATGAGCGAGAGAGTTGGAGGGCTGGGGAGCTTTATGTGGGGGATGGGGAGGGCAACCCCAGGCTAGGCTATGGGCTAGGTTAGATGTCCGAGGTTGGGGGCCAAGGGCCTGGGCTAGAAAGAGAGGAGAGATGAGTGGGTTGGAGCAGTGGGGAGCCCTCTGAATTTCTCTTCTCCCCAACCCTGACCTCCTACTTAAGGGAGGGACAGAGACTGGGTCTACCCTAATGGTGGGCCTTTTCATTGTGCCAAAAAAAAAAAAAAAAAAATTGATGCCAGTAACTAAACCACCTCTCTCTGTTCTCTTCTGGGGGGTGGGGTGGGTGTGTGTGTGGGGGTGGGTAGGGATGGGGAACCCAAGCCCCAGTAGGAGTTGGGGCTGAGATCAGGAGGAGGGGAAGGATATGAGTTTTCCATCCATCTCCCTGGAGAAGGCCATGACGGGCTCTCCAAGCCCTGGGGAGATCTGGCGAGGGACTAGCCAAGTCAGGGTGACCTCTTGACCTGACTAGTTTTTCTAACCCACATGAACACCAGGGTGCCTCTCTCTTCCTCTAGCCCAGGGTAGGGGGACCTGAGTGAGAGAGAGAGTGAGACAGACAGCAAGATTGAGACACGCGGGCCCCCACTGGTCTCTGAGTGGGAAAGGCAAGTGCGAGAGATAAAGGCCTCCAAGAGAAAAAAGAAACAAACCAAAGATTTAACCATTTAAAAAAAAAAAAAAACCCACAGACAACTCCGCTACCTTTTTATATGTTGGAAAAAAAGTGAAAAAAAATTAAAAATAAAAATAAAAAAAAATACACAAAAACTCCAAGCCGCAAGTCCTTCATGCGGTTTAAACTTTGACCTCAGCAGTCTCCAAAGCAAGACGACGATGACAAAGGCGGAAACAAAGAAAAAATAATGTATATTTTTAAGTATTTGTCCTTGAATTGTTAGCTCCTTGTTAAACAAACAAAAGGAGAGAAAAATCCAGAGAGAAGTGTTGCTGGGATGGAGACAACTATTTACTATGTCTGTGACCCCTCCCTTCTGCCTCCCTCCCCTTCCTCTCTTTCCTGTCCTCTATCCTTGCTGCCCCTCCCCCAATATGTCCCCCAAACCCAGGGGCTCAGTATTTATTTATTTATATAATTGCAGGGTGACTGGGGGCCTCTCTCGGCAACTCGTAGAGAGCCTTTGGATAATGGCAGGGTGGGGAATGGGCGAGGAGTCTTTGGGAAGAGCAGGGGCCTGAACTTTCAACTCCTTTCTGGCCTCTTGTCCCACTGCTTCCACCATCACCTTCCAAATCCAGGGCTGCACTAGGGCAAGGTGACCACCCTACTTGGTAAAGACCTGATTGGCGCAGCCCATTCTGGTGTGGGTGTCTTTCACCACCCAGAATGACCAGGTTGGAATGGGGGTGGGTGAAGTTGGAGGGGGTGGCAAGTACAAGGCAAGGGTGCCCAGGAACCGGCATCCAGAAATCAGCCCTGGAGTAGACCTGCCTTTCCTCCATCCTTACCAAGTTAGCCTCCCTTTCAGTTCCGTCTGACCCCTGTGTTGGTAGCCCCTTCCTTCCCTTCCTGTACCCCCTCCGTCTCTTCTCGTGGTAGCGGGTTAGTGTTTCAGTGTTCTTAACTCCAATCTGCTTGTTCATTGTACAATGTGCTTCTTTTAAGGCCCCATTTTTGTAACTTGAGTGTGTCATTCATCTGAACAACAAACATCAAAAAATAAAAAATTAAAAACTGTACAGAGAGAAATGA)$ MaYGSITFGDVAIDFSHQEWEYLSLVQKTLYQEVMMENYDNLVSL|vTTLSSAVGTLHPSRTAGGGGGGGGAAPPLNSIPSVTPPPPATTNSTNPSPQGSHSAIGLSGLNPSTGPGLWWNPAPYQP* 01BR025 ENSG00000267552.6 ENSG00000028277.21 -/- -/- chr19:37709696 chr19:42092270 CDS/splice-site CDS/splice-site duplication 3 0 0 17 0 medium in-frame . . . . ENSG00000267552.6 ENSG00000028277.21 ENST00000586606.6 ENST00000389341.9 upstream downstream . ^(ACAGAGAAATGGTCCCAATGGGAAATCAGATACTGAGTCTTAGATGAAGATTTCCAGTGAGAAGAAACAGATAGGATGAGAAGCTTAGAAGAGTAATTGCCCTTAAGAAAG___GTCTTGGTTCTTTTGACTTTGCTCTTCTGGTAGAGAAACGCCAAGGACTGAT)CAACTCTTGCCAGTCTCAAACCATGgCCTAT___GGATCAATAACATTCGGGGATGTGGCCATAGACTTCTCTCATCAGGAGTGGGAATATCTCAGCCTGGTTCAGAAGACCTTGTACCAGGAGGTGATGATGGAGAACTATGACAACTTAGTCTCATTGG|TTACTACCTTATCCTCAGCTGTGGGGACGCTCCACCCCAGCCGGACAGCTG(GAGGGGGTGGGGGCGGGGGCGGGGCTGCGCCCCCCCTCAATTCCATCCCCTCTGTCACTCCCCCACCCCCGGCCACCACCAACAGCACAAACCCCAGCCCTCAAGGCAGCCACTCGGCTATCGGCTTGTCAGGCCTGAACCCCAGCACGGG___CCCTGGCCTCTGGTGGAACCCTGCCCCTTACCAGCCTTGATGGCAGCGGGAATCTGGTGCTGGGGGCAGCCGGTGCAGCCCCGGGGAGCCCTGGCCTGGTGACCTCGCCGCTCTTCTTGAATCATGCTGGGCTGCCCCTGCTCAGCACCCCGCCTGGTGTGGGCCTGGTCTCAGCAGCGGCTGCGGCTGTGGCAGCCTCCATCTCCAGCAAGTCTCCTGGCCTCTCCTCCTCATCCTCTTCATCCTCATCCTCCTCCTCCTCCACTTGCAGCGAGACGGCAGCACAGACCCCTGGAGGTCCAGGGGGGCCCGAGGCAGGGTCCAAACCTGAGTGAGGGCCAGCCATGCCTCCCCTCCCATTCCTCTGGTCCCTGCCTTGGTCCCTTGCCTGGGAAGAGGGCGAGGAGGCCAGTGGTGGGGACGCAGAGGGTCCTCAGAGCAGGAGTGACAAGGGAGGAAAGACCAAAAAAACAACCAACCAAAAAAAAAAAAAAAAAGGAAAGAAACTAACCAACAAAAGAGAAAACCAAAAATAATCACAACAGAAACCAGCTGCCCCAAAGGAACCAGAGGTGAAAAACAAACAAAAAAAAACCAAAAACAAACCAAAAAAAAAAAAAACCCACAAAATCAAACAAACCAAAAAACCAGTCGCGAGCCAGACCTCAGCGTGCTCACCCTCACTGCTACGACGCCAAATAAAAACCCCAGCCAGGGGCGGAGAAGCCTCCAGCAGGTCAGACCTCATGCCACCGAGCCCTGGCTGTGGGACCAACCCCCAACCCTGCCTCCCCCGTGGGGGCTACAGAAGGAAAAAGAGAAGATGCCAGCTTCCTAATCCCAGCCCCCAGCCCTGGGCCAGCGAAGACAGGGCACAGCCTGGGCAGATGGGCTGGGGCTTAGCACCACCCACCAAATGTTCTTTTCCAGAAGGTGAAAGAGAAAGGGCCTGAACAACCTTACACCAAATATTCAGTAGCTTCATCCAAAGGATGTACAGAATTTTTAGCATTGTGCTCAACAGAATGTGTCCCTACCATGTGTCCCCTTCTCCCCTGGCCCCCAGCTCTCCCCACCTGGGCAGGGGGTCTTGCTTTAACCTCCTCCCTCCCCCCAGCAGGGGAGAGTTCAAGGGAAGGCCTGCGGACAACTTTTCATCCCCTGTTCCTCCCTCTTTTCCCCTTTGAAGGGTGGGCTAGGCCATTTTGCCAAGTTCTAGCTCTCACAAGTCCCTCCTCAACCCTGTCACCCTCCTCTGCTCTGGAACTGACTCCCTCCCCAGCCTATGGGAAGGTGGAAATTTCAGGCAAGAGGGGATGAAGACATTCAGTTGAGGGCATTCAGTTGTCTTTTTCCATCCTGTCTGTTTCCCTGAAAAAAAAAAAAATTCATATTCCAGTGCCTATCCGTGGGATCCTTCACGTTCTTTGACATTAACCAGAAACCAAAAAGAGAACTCACCTCGCTTTTCCCACCCTGTGCCCCTCTGGTACTGGCGAATGCCTCTCCCTCCCCCCACATGCACGCACGCACACACCCCAGTGGTGGGGTTCCTCGAGATGGCATCCCCATCAGGGTCCATGTGGTGGGGACAGTGCCACAGCCTGTGGTCCCCATCTGAGAGGGCGCGGTGGTGGCCACCACTCCCACAAGACCTCCACAACTCTTGGCTGGACCCTGTGTTTGACCAGCCCCGGACACGTCTCCACTGACGACGGACAGAGGAGAGACACCACTGGGAGCCACCCTGCCCTCCTGCTATTGTGGAGGCCAACAAAGTTTTGAACCGAAAACCAAAAAAACAGAAACAAACAAACAATAAATTTAAACTAGAAAAAAAATTTATATATATATATAAACATATATATATATATATATATAAAAGGGAAAGAAGATGAGGACTCTTCAAGAATAAGATGGAACCGCGAGGCGGAGCCAAGCCCCTGCACCGGTGGTCCAGGCCCTTGTTCCCCAAGGCGGATGGAAGGACGGATGCTTCTTTCTCTTCACAAATACCTCATGGACGTTGTCTTTGGGAAAGCCGGAGGGGGCGGCTGGGGCAGGGCCTGTCCCTCGGCCAGGGCAGATGGAAGCGGGTGGGCGGGGCTGAGAGAGGGTATCAGGGACAGGGGTGAAGAGCCCCAAACTCCCCTCCCAAATCAACTGAAAAAGCTTTAAAAAAAGACAGGAAAAAAAGGAGTAAGAAAGCAAAAAGAACAGATGAAGGAAAACTTAACAACTTTTGGGTGGTTTGATTCCTCCTTTGATTTCTTTTTCGGTTCTCTTTTGTCTGACCTCTCTCCTCCCCTCCTTCCTCTCTCCTCCCCTCCTTCCTCTCTCCTCTCCTCCTTCCTGTCTCCTCTCTCTCCCTTTGCTCTCCTCTCTTCTCTCTCAATCTTGTTCTTTCTGTGTCTCTCCTCAAACCAAAGTGTTGCAGTGAAGGACACGAGCCATTGAAATCAGGGTGGGGCCTGACAGCCGTAGTGTGGCCCCTGCCCCTTGTTGGGCAGGAGCAGAGAGAGAGGAGAGCCCTGAGACCGCAGGGCTTTGGCCTGGGCAGCTTCCACTTTCTGCCGGACACTCTGAGGAGAGGCAGATGGAGCTCCAGGCCTCAGCGTTCTCTTTTTTCCTTGTCTCCCTTCTCCCACCCGGGAAATGAAACTGTTGGGCTGGGCGACGGAGGCAGCAGAGACTCGGCCATTGCAGGGGCCTCTGGGTGCCTTGTCCGGGCAGTGGTGAAGTAGCCGCCCCTCCCACCCCGGCACGATGGGGCCTGGCACCTCGTCTACCCAACCTCACCGGAATGTAAGCATCTCCGCTGAACGACTCCCTGCCCTTACCCTACCTCTGAGTTTGTCCATGTTTATTTCCTGAAGAGAGAAGGGACTGGCAAGAGGGCTTGGGCCCCAGCCCAAGGGTGGAGAGGGGGCCAAGGGCTCCTGACCAAATAGGAAGGACATTTGAGCAGAGCAAAATGAAAGGAATTACAACCAAAAACCCCCTCCGAGAAGACAGGCAGCATGGAAGGCATGGTGGAGATGACTCAAACAAAAACTATGATTCTAGACCAAAAAGGAAAAAAAAAAAAAAAAAAGGAAAGAAAATCCAGGACTCACCACCACCCACTTCATCCTGCTTCCTCCCCATCAAGTCCCACCACCTGGGACCTCTCCCCACCCCAGTATGTGGGAGTGGGGTAAAGAGGAGAGGAGGAGCAGGGGGCAGGGATGGGGCAGATGCCCTGATGTTGGTGGAGGGACCCCTGTGCAGCCGGGGGTGCTGGGGACCCTCCCCATCCAACCCTCACACCTAGGAAAAGAAAAACAAGAAAAAAAAATTCCTGGGAGGGGGAAAAATAACCAAATCCCAAGCTTTAACTACAGCTGTGAAACCAAATATTGGGAAGGGGGTAGGAGGGAGGGAGGGGCAGGTGAGCCCCAGGTCTCCCCCTGGGCCCCCCTCCCCTGAGGACTCGAGATAAGGCACCAAATACCTCATAGAACTTTAATGTTAAAAAAAGGAAACCAAATATCGTTGGCTGGGGGCCAGCCAGGGCAAGGGGCTGGGGGGCTGGAGGGAGCCAGGGTTGGGAAGGTGATGGGGGAATTCATGCCCCCCACCCCCATCTGCCCCTTACACTCTGGTCCCCCGTCTCGACTCCGGGAAACAAAACTATCTCATCGTTTTTATTTTGTGGTCTGTACAGAGCCTGTGTCCGTGTGTCTGTGTATGAGCGAGAGAGTTGGAGGGCTGGGGAGCTTTATGTGGGGGATGGGGAGGGCAACCCCAGGCTAGGCTATGGGCTAGGTTAGATGTCCGAGGTTGGGGGCCAAGGGCCTGGGCTAGAAAGAGAGGAGAGATGAGTGGGTTGGAGCAGTGGGGAGCCCTCTGAATTTCTCTTCTCCCCAACCCTGACCTCCTACTTAAGGGAGGGACAGAGACTGGGTCTACCCTAATGGTGGGCCTTTTCATTGTGCCAAAAAAAAAAAAAAAAAAATTGATGCCAGTAACTAAACCACCTCTCTCTGTTCTCTTCTGGGGGGTGGGGTGGGTGTGTGTGTGGGGGTGGGTAGGGATGGGGAACCCAAGCCCCAGTAGGAGTTGGGGCTGAGATCAGGAGGAGGGGAAGGATATGAGTTTTCCATCCATCTCCCTGGAGAAGGCCATGACGGGCTCTCCAAGCCCTGGGGAGATCTGGCGAGGGACTAGCCAAGTCAGGGTGACCTCTTGACCTGACTAGTTTTTCTAACCCACATGAACACCAGGGTGCCTCTCTCTTCCTCTAGCCCAGGGTAGGGGGACCTGAGTGAGAGAGAGAGTGAGACAGACAGCAAGATTGAGACACGCGGGCCCCCACTGGTCTCTGAGTGGGAAAGGCAAGTGCGAGAGATAAAGGCCTCCAAGAGAAAAAAGAAACAAACCAAAGATTTAACCATTTAAAAAAAAAAAAAAACCCACAGACAACTCCGCTACCTTTTTATATGTTGGAAAAAAAGTGAAAAAAAATTAAAAATAAAAATAAAAAAAAATACACAAAAACTCCAAGCCGCAAGTCCTTCATGCGGTTTAAACTTTGACCTCAGCAGTCTCCAAAGCAAGACGACGATGACAAAGGCGGAAACAAAGAAAAAATAATGTATATTTTTAAGTATTTGTCCTTGAATTGTTAGCTCCTTGTTAAACAAACAAAAGGAGAGAAAAATCCAGAGAGAAGTGTTGCTGGGATGGAGACAACTATTTACTATGTCTGTGACCCCTCCCTTCTGCCTCCCTCCCCTTCCTCTCTTTCCTGTCCTCTATCCTTGCTGCCCCTCCCCCAATATGTCCCCCAAACCCAGGGGCTCAGTATTTATTTATTTATATAATTGCAGGGTGACTGGGGGCCTCTCTCGGCAACTCGTAGAGAGCCTTTGGATAATGGCAGGGTGGGGAATGGGCGAGGAGTCTTTGGGAAGAGCAGGGGCCTGAACTTTCAACTCCTTTCTGGCCTCTTGTCCCACTGCTTCCACCATCACCTTCCAAATCCAGGGCTGCACTAGGGCAAGGTGACCACCCTACTTGGTAAAGACCTGATTGGCGCAGCCCATTCTGGTGTGGGTGTCTTTCACCACCCAGAATGACCAGGTTGGAATGGGGGTGGGTGAAGTTGGAGGGGGTGGCAAGTACAAGGCAAGGGTGCCCAGGAACCGGCATCCAGAAATCAGCCCTGGAGTAGACCTGCCTTTCCTCCATCCTTACCAAGTTAGCCTCCCTTTCAGTTCCGTCTGACCCCTGTGTTGGTAGCCCCTTCCTTCCCTTCCTGTACCCCCTCCGTCTCTTCTCGTGGTAGCGGGTTAGTGTTTCAGTGTTCTTAACTCCAATCTGCTTGTTCATTGTACAATGTGCTTCTTTTAAGGCCCCATTTTTGTAACTTGAGTGTGTCATTCATCTGAACAACAAACATCAAAAAATAAAAAATTAAAAACTGTACAGAGAGAAATGA)$ MaYGSITFGDVAIDFSHQEWEYLSLVQKTLYQEVMMENYDNLVSL|vTTLSSAVGTLHPSRTAGGGGGGGGAAPPLNSIPSVTPPPPATTNSTNPSPQGSHSAIGLSGLNPSTGPGLWWNPAPYQP* 01BR025 ENSG00000253664.1 ENSG00000206867.1(3059),ENSG00000104332.12(225905) +/+ ./- chr8:51257807 chr8:41036057 exon/splice-site intergenic inversion 3 0 0 14 1 medium . . . . . ENSG00000253664.1 . ENST00000521294.1 . downstream downstream . ^(TAAG)GCAACTTTGTAAAGCACACTTGAGCTGGTAGAAGAATCGTCAGATGTGATGACAAGCTACAGGGAAAACTGCCTGCTGCCTTGTTCACCTGCCGCAAAGATAGAGCATATTTGTCA|ACACCCATGAGGTATAAACACTGTTGTCAGAGGAAACAGTGGAAATGAG . 01BR025 ENSG00000213999.17 ENSG00000105011.9 -/- -/- chr19:19192081 chr19:14126237 5'UTR/splice-site CDS/splice-site deletion 0 2 0 19 31 medium . . |ASF1_like_histone_chaperone(100%) . . ENSG00000213999.17 ENSG00000105011.9 ENST00000444486.7 ENST00000263382.8 upstream downstream . ^(CGGCCGCGGT)CGCTATGGAGGAGCCGGAGATGCAGCTCAAGGGGAAGAAAG|ACCTGGAGTGGAAGATCATTTATGTTGGCTCGGCTGAGAGTGAGGAATTTGATCAGATCCTAGACTCGGTGCTGGTGGGCCCTGTGCCAGCAGGGAGACACATGTTTGTCTTTCAG___GCCGACGCCCCCAACCCATCCCTCATCCCAGAGACTGATGCCGTGGGTGTGACTGTGGTCCTCATCACCTGCACCTACCATGGACAGGAGTTCATCCGAGTGGGCTACTAC(GTCAACAACGAGTACCTCAACCCTGAGCTGCGTGAGAACCCGCCCATGAAGCCAGATTTCTCCCAG___CTCCAGCGGAACATCTTGGCCTCGAACCCCCGGGTGACCCGCTTCCATATCAACTGGGACAACAACATGGACAGGCTGGAGGCCATAGAGACCCAGGACCCCTCCCTGGGCTGCGGCCTCCCACTCAACTGCACTCCTATCAAGGGCTTGGGGCTCCCTGGCTGCATCCCTGGCCTCCTCCCTGAGAACTCCATGGACTGCATCTAACTGCAGGAACCCAGAGTGTCCCAGCACGCCGGGAGGGGCAACCAGGCCTCCCAGCGAGTCCTGCAGGGCCCATCTAGAGGACTTTGGGGGCCATCAGCTGCAATCCAGGTCTGTCAAACTCAGCCCCTAGGAAAGAACAGGCCTTGGGTCTCCCCTAGTCCTGGCCAGAAGGATGATCTCGCTTTTCCTCTACAGGCCTATAAGAAGCAGGTACTTCAGTTCTAAATTCTGACTTGTGTTCTTTTCGTCTTCATAAATTCTAACTAAGGCCACTGTGCCACTGTGCACCCTTGAGTACCATTGATCCAAAGCTTTCCCACAGACCTCCCTGGCCCACCTAGAGGCTTTCTTGGTCAGTGCCTGTCAAGGCTCCAGTCCTGCTGAGCCAAAGGCTTTGTCATTCCTTTCTCTTCCTGTACATCTGAGCAGACCCACTCCAGCTTTCTGGTGTCACAGGCGGGAATGTTAGTTAGTAGGTAGACTTAGATCCCATTTCTGTCCTGCTCCCAGGAAGATTCTTAGGTCCTCTTCAATCCAGCAGCCCCTCCCAGAGGTGTGATCAGCAGGATGCTGAGGAACCATGTTGCCTTTCCTGTCAATCACAGCCACCTTCCTGTTATCTCCTAAATGGATCTGGCTTTTCCTGGAGGCTGCCATGGTTGGAAGATGGTATCAGAGGGCCTGCCTGGGCAGTCTGTCTCCGGGCCAGGGTCAGGGACCCTCTGCCTCTGGCAGCCTTAACCTGTCCTCTGCTAGGACCAGGGTGATTTCAAGCCAGGGAAGCAACTGGGACCCTGAAAACTGTCCCTCCCCAGCCCGCTCCCCCTCTCTGTGCCCTGGTCCCCTTGCTGCCATGTGGATGCTGTTGTGATTGCTGTTTGTATATTATCAAAATGTTTTTATATTAAAAATGTTTGGTCTGAAAATTAAAAGCACTTCATTTAGAA)$ . 01BR025 ENSG00000064489.23 ENSG00000105011.9 -/- -/- chr19:19192081 chr19:14126237 5'UTR/splice-site CDS/splice-site deletion 0 2 0 19 31 medium . . |ASF1_like_histone_chaperone(100%) . . ENSG00000064489.23 ENSG00000105011.9 ENST00000514819.7 ENST00000263382.8 upstream downstream . ^(GTTCGCTCGGCCGCGGT)CGCTATGGAGGAGCCGGAGATGCAGCTCAAGGGGAAGAAAG|ACCTGGAGTGGAAGATCATTTATGTTGGCTCGGCTGAGAGTGAGGAATTTGATCAGATCCTAGACTCGGTGCTGGTGGGCCCTGTGCCAGCAGGGAGACACATGTTTGTCTTTCAG___GCCGACGCCCCCAACCCATCCCTCATCCCAGAGACTGATGCCGTGGGTGTGACTGTGGTCCTCATCACCTGCACCTACCATGGACAGGAGTTCATCCGAGTGGGCTACTAC(GTCAACAACGAGTACCTCAACCCTGAGCTGCGTGAGAACCCGCCCATGAAGCCAGATTTCTCCCAG___CTCCAGCGGAACATCTTGGCCTCGAACCCCCGGGTGACCCGCTTCCATATCAACTGGGACAACAACATGGACAGGCTGGAGGCCATAGAGACCCAGGACCCCTCCCTGGGCTGCGGCCTCCCACTCAACTGCACTCCTATCAAGGGCTTGGGGCTCCCTGGCTGCATCCCTGGCCTCCTCCCTGAGAACTCCATGGACTGCATCTAACTGCAGGAACCCAGAGTGTCCCAGCACGCCGGGAGGGGCAACCAGGCCTCCCAGCGAGTCCTGCAGGGCCCATCTAGAGGACTTTGGGGGCCATCAGCTGCAATCCAGGTCTGTCAAACTCAGCCCCTAGGAAAGAACAGGCCTTGGGTCTCCCCTAGTCCTGGCCAGAAGGATGATCTCGCTTTTCCTCTACAGGCCTATAAGAAGCAGGTACTTCAGTTCTAAATTCTGACTTGTGTTCTTTTCGTCTTCATAAATTCTAACTAAGGCCACTGTGCCACTGTGCACCCTTGAGTACCATTGATCCAAAGCTTTCCCACAGACCTCCCTGGCCCACCTAGAGGCTTTCTTGGTCAGTGCCTGTCAAGGCTCCAGTCCTGCTGAGCCAAAGGCTTTGTCATTCCTTTCTCTTCCTGTACATCTGAGCAGACCCACTCCAGCTTTCTGGTGTCACAGGCGGGAATGTTAGTTAGTAGGTAGACTTAGATCCCATTTCTGTCCTGCTCCCAGGAAGATTCTTAGGTCCTCTTCAATCCAGCAGCCCCTCCCAGAGGTGTGATCAGCAGGATGCTGAGGAACCATGTTGCCTTTCCTGTCAATCACAGCCACCTTCCTGTTATCTCCTAAATGGATCTGGCTTTTCCTGGAGGCTGCCATGGTTGGAAGATGGTATCAGAGGGCCTGCCTGGGCAGTCTGTCTCCGGGCCAGGGTCAGGGACCCTCTGCCTCTGGCAGCCTTAACCTGTCCTCTGCTAGGACCAGGGTGATTTCAAGCCAGGGAAGCAACTGGGACCCTGAAAACTGTCCCTCCCCAGCCCGCTCCCCCTCTCTGTGCCCTGGTCCCCTTGCTGCCATGTGGATGCTGTTGTGATTGCTGTTTGTATATTATCAAAATGTTTTTATATTAAAAATGTTTGGTCTGAAAATTAAAAGCACTTCATTTAGAA)$ . 01BR026 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 24 17 0 74 63 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(7),mismappers(1) CGATGGCAACTGTCGTGAGAGTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGA(AGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 01BR026 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 7 13 1 69 37 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(3),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTG)GCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 01BR026 ENSG00000131981.16 ENSG00000198554.12 +/+ -/+ chr14:55142749 chr14:54956776 CDS/splice-site intron duplication/5'-5' 10 8 0 1767 15 high out-of-frame . Galactoside-binding_lectin(100%)| . . ENSG00000131981.16 ENSG00000198554.12 ENST00000254301.14 . downstream upstream . ^(GCCCGCAGCACCTCCTCGCCAGCAGCCGTCCGGAGCCAGCCAACGAGCG___GAAAATGGCAGACAATTTTTCG___CTCCATGATGCGTTATCTGGGTCTGGAAACCCAAACCCTCAAGGATGGCCTGGCGCATGGGGGAACCAGCCTGCTGGGGCAGGGGGCTACCCAGGGGCTTCCTATCCTGGGGCCTACCCCGGGCAGGCACCCCCAGGGGCTTATCCTGGACAGGCACCTCCAGGCGCCTACCCTGGAGCACCTGGAGCTTATCCCGGAGCACCTGCACCTGGAGTCTACCCAGGGCCACCCAGCGGCCCTGGGGCCTACCCATCTTCTGGACAGCCAAGTGCCACCGGAGCCTACCCTGCCACTGGCCCCTATGGCGCCCCTGCTGGGCCACTG___ATTGTGCCTTATAACCTGCCTTTGCCTGGGGGA)GTGGTGCCTCGCATGCTGATAACAATTCTGGGCACGGTGAAGCCCAATGCAAACAG___AATTGCTTTAGATTTCCAAAGAGGGAATGATGTTGCCTTCCACTTTAACCCACGCTTCAATGAGAACAACAGGAGAGTCATTGTTTGCAATACAAAGCTGGATAATAACTGGGGAAGGGAAGAAAGACAGTCGGTTTTCCCATTTGAAAGTGGGAAACCATTCAAA|ATGGGGTATCTCTTATGTTTCCCAGACTGGACTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAG___AT...___AGATGGGGTCTCACTGTGTTGCTCAAGCTGATACTGAACTCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGCGTGAGACACCATGCCTGACCTTCAATAC MADNFSLHDALSGSGNPNPQGWPGAWGNQPAGAGGYPGASYPGAYPGQAPPGAYPGQAPPGAYPGAPGAYPGAPAPGVYPGPPSGPGAYPSSGQPSATGAYPATGPYGAPAGPLIVPYNLPLPGGVVPRMLITILGTVKPNANRIALDFQRGNDVAFHFNPRFNENNRRVIVCNTKLDNNWGREERQSVFPFESGKPFK|mgyllcfpdwtqtpglk* 01BR026 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 8 1 22 26 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(2),mismatches(1) CGGCCCCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTG(GTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR026 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 2 0 138 57 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAG)GTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR026 ENSG00000142687.18 ENSG00000126067.12 -/- -/- chr1:35506612 chr1:35609408 CDS/splice-site CDS/splice-site duplication 6 8 0 45 870 high in-frame . |Proteasome_subunit(100%) . . ENSG00000142687.18 ENSG00000126067.12 ENST00000325722.8 ENST00000373237.4 upstream downstream duplicates(1) ^(GTTTCCGGCCGCCGTCGCTGTCCAGGGAGGCTGAGGCGAGAGGTAGCTGTCCGGGTGGGGAGCCCGCACTACCTTCTTCCTCTTCCTCCTCCTCCTCCGGGTGAGGGGAGCGAAGGTTGGGGGTCCCCGAGCCCATGGACCAGGAGGAGGCGGAGGCCGCCGAGAGCCGGGGCCCCGCTATGTGGCCCTGAGCCCCG___TGTACTGGTTCTGCCTGTCTGGAGGGCCATGGAGAAGAGGCTGGGAGTCAAGCCAAATCCTGCTTCCTGGATTTTATCAGGATATTATTGGCAGACATCTGCGAAGTGGTTGAGAAGCCTGTACCTGTTTTATACTTGCTTTTGCTTCAGCGTTCTGTGGTTGTCAACAG___ATGCCAGTGAGAGCAGGTGCCAGCAGGGGAAGACACAATTTGGAGTTGGCCTGAGATCTGGGGGAGAAAATCACCTCTGGCTTCTTGAAGGAACCCCCTCTCTCCAGTCATGTTGGGCTGCCTGCTGCCAGGACTCTGCCTGCCATGTCTTTTGGTGGCTAGAAGGGATGTGCATTCAGGCAGACTGCAGCAGGCCCCAGAGCTGCCGGGCTTTTAGGACACACTCCTCCAATT)CCATGCTGGTGTTTTTAAAAAAATTCCAAACTGCAGATGATTTGGGCTTTCTACCTGAAGATGATGTACCACATCTTCTGGGGCTcGGTTGGAACTGGGCATCTTGGAGGCAGAGCCCACCCAGAGCTGCACTCAGACCTGCTGTATCTTCCAGTGACCAGCAGAGCTTAATCAGGAAGCTTCAGAAGAGAGGTAGTCCCAGTGACGTAGTTACACCTATAGTGACACAGCATTCTAAAGTGAATGACTCCAACGAATTAGGTGGTCTGACTACCAGTGGCTCTGCAGAG|ACCCCATATCATGTGAACCTCCTCCTGGCTGGCTATGATGAGCATGAAGGGCCAGCGCTGTATTACATGGACTACCTGGCAGCCTTGGCCAAGGCCCCTTTTGCAGCCCACGGCTATGGTGCCTTCCTGACTCTCAGTATCCTCGACCGATACTACACACCGA___CTATCTCACGTGAGAGGGCAGTGGAACTCCTTAGGAAATGTCTGGAGGAG___CTCCAGAAACGCTTCATCCTGAATCTGCCAACCTTCAGTGTTCGAATCATTGACAAAAATGGCATCCATGACCTGGATAACATTTCCTTCCCCAAACAGGG(CTCCTAACATCATGTCCTCCCTCCCACTTGCCAGGGAACTTTTTTTTGATGGGCTCCTTTATTTTTTTCTACTCTTTTCAGGCGCACTCTTGATAAATGGTTAATTCAGAATAAAGGTGACTATGGATATAATTGAGCCCTCTGGTCCAGGTCTCAGTTTACCTAATATTACCTCAGAAAGGATATGGAGGGAAGATGATCTTTTTGCCAGGTCTGACTTTTCTTCCTGCTCCGCCCTCCATTAACGCTCAGTACCCTTTAGCAGCTGACGGCCCCACGTTCTACTCCATGCTTGGCTTCCTTTCCAACTAGCTCTTTCATATATTTTACTTGCTAGTATCTCCATTCTCTCTAAAGTAGTGGTTCTTTTTGCCCTTAAACTTAAATTTTTAAATTAATTAACCTGAATTAATAATACATGCACTTAATGTAACATGCAAACAGTACAAAAACATGTAGTGAAAAATATTTCTTCCAGAGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGAGCGAGACCATCCTGACCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACGCACCCCTAGTCCCAGCTACTGGGGAGGCTGAGACAGGAGAATCGGTCGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGATCGCGCCACTGTACTCCAGCCTGGCAACAGAGTGAGACTCCGTCTCAAAAAAAGAAGGAAAAATGTTTCTTCCATCCCTATAATCCAGTCATCTGCTTCCTGCTTCCCTTCCTGGAGGAAACTTCAGCTACTAATTTCTTATGTTTTTTAAGAGATATTCTGTTACTGTGTAAAGTATACATACATACAGACACATGCCCCCTTTAAATTTTTTAGATTTATTTATTTATTTAGAGACAGGGTCTCACTCTAGCCCAGGCTGGAGTGCTGTGGCGTAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGCCCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCTAGGATTACAGGCGCACACCACCAATGCCCAGCTAGTTTTTGTGTTTTTCATAGAGACAGGGTCTCACCATGTCATTCAGGTTGGTCTTGAACTCCTGGGCTCAAGCAGTCTGCCTGCCTTGGCTTCCCAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAAAAAGTATTTTTAAGTTCTGCATATTGCTTATTTCACTTAACACTATATTAGAGATTGTTTTATATCAATACATATAGATATGCTTATTCTTGTTGACAGTTGCATAATTTTCCATTAAATTGATGTATCATGGGCAGTTAACCAGTTACTCGTTTTACTCTTAGCATAACTTTAGGGAACAATGTGGATGTTTTGTGGTTAAAGCTATTAAAACAGTGGTTCTTGACCAGATGTGTGTTTCAGAATGTTCATCTCACATTTCCAGTTGCTACTGATGCTGCTGGTCTAGGAACCACATATCAAAACCATTTGGTCTCCGACTAAGATAAACCCTACTTTATCCAATTCTGTGCTCCTCTTAATATCATATACAGATAGGTTTTTGTTTTGTCTGTGATTAAATGTATCATCTAAGATACTACCTACTGATCATAACGTTCATATTAAAGTATTGGGTTAACATTAGATTTGGGTGTCTTATACACTATTTAATACGCCAATGATAAATGCCTTACACCATAAGAAGAAAGCTAATCATTGAGTAAATGGGAGAAAAGAGATGATTCACGTCACTACAGTTGATTCAACCTCCAACACCACCATGAATATGCATAGGTTTGAGCTTTTAGCTAGATTCCTGAGTGTAAGGCATCTATTTTAAAAGTGCCACAGGTTGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGCCGCCCGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAAATATATAACAATTAGCCAGGCGTGGTGGCACACGCCTGTAAACCCAACTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGAGGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCGCCACAGATGATTCTGACGCCCTACCCAGTGGAGTGCTGCTACTAAAGCACAGACTATCCTGCTACATGATTTTCCCATCTGTACAATGACTGAAATAGCACCTATTCTATGTGGTAGATATGAGAATTCCATGAAGTAATATAGGTAAACATTTAGTTCAGGGCTTGGCATGTGGTAAGTGCTCAGTAAGTGTATAATGATTGGTAAACTTGTTATTCTGCATTCAGGCCTCACCAGGGATGACATACGGTTCTCTGCCTTTGAATGTAAGTGTCCCCAGGGCAATCTCAGGCAAGCCTGCAAACCCATCCTGACTCTCAGTGTTTTTTTGCCAATCTGGATCTCTTTCCTGAGCTCCAAATCAACTCATTCCTAGATAGCTCACCCTCCAGATTTAGGGACATCGAACTCAGTATGTCTAAAGCTGAGCCTTACCATCTGCCCCTCTCCAAACCGCCTCTATGACATTCTGTCTTAGAGAATTAGAGCTACCTGGTTTCCCAAGTGCCCAAGTCAGAAACCCAGGCATCATTTATTTTTAATAAATGTTTTATTTTGGAATAAATTTGGTTTTACAGAAAAGTTGCAAAGATAATATGGTGTCCTTATACCCCTTATTCAGTTTCTGTAATGTTAACATCTTCTATATACCACAGTATGTTTGTCAAAACTGAGAAACCAACATTGGTTGGTGTATTAGTATTACTAAGCTCCAGGCTTTATTCAGATTTTACCAGTTTTTCCACTAATTTTCTTCTGTTCTAGGATATAATCCAAGATACAACATTGCATTTAGCTGGGCATCATTTTTATGCCATTCTTTATCTCCTGTCTCTACATGGCCACCAAGTTCTGGCATTTCTACATCCTAAATCTTTTAATTTTATTATAATTTTTTATTGTTGTTTTTCAGAGACAGGGTCTTGCTCCATCACCTAGGCTGGAGTACAGTGGCACGATCGTAGCTTACTGCAGTAAGTTCACTTGAACTCCTGGGCTCAAGTGAACCTCTTACCCCAGCCTCCCAACTAGCTGGGACTAGAGGGGTGCACCACTGCACCCAGCTAATTTTGTCAAAATTTTTTGTAGAGACAGGGTCTCGCCATGTTGCCTAGGCTGGTCTCGAACTCTTGGCCTCAAGTGATCCTCCCACCTTGGTCTGCCAAAGCACTGGGATTACAGATGTGAGCCACTGCACCCAGCCTAATCTTTATAAATCTCCATCCCCATTACTCTGGTTCACCCCCTATCGTTTCTTAGACTATTTAACAGCCTCCTAACTTCACTCTACTTTTAATCTCTTCCCTCTCCAGGTCTTTCTCCATATTTTAAAAAACTAGTTTCACCATCCATTCCTCTCTGCCCTTAAAACTTTCTGGTGGTTTTCCATGGCTTAAGAGAATAAAGCCCAATTCTTTGATTTGACATGCTAGGCATTCCATAATCCTCTCCGAACCTAACTCCCCACTTCCTTTCCCTCCTTTACACCTCATAAAGCCTGTGTTCCAACTAAA)$ MEKRLGVKPNPASWILSGYYWQTSAKWLRSLYLFYTCFCFSVLWLSTDASESRCQQGKTQFGVGLRSGGENHLWLLEGTPSLQSCWAACCQDSACHVFWWLEGMCIQADCSRPQSCRAFRTHSSNSMLVFLKKFQTADDLGFLPEDDVPHLLGLGWNWASWRQSPPRAALRPAVSSSDQQSLIRKLQKRGSPSDVVTPIVTQHSKVNDSNELGGLTTSGSAE|TPYHVNLLLAGYDEHEGPALYYMDYLAALAKAPFAAHGYGAFLTLSILDRYYTPTISRERAVELLRKCLEELQKRFILNLPTFSVRIIDKNGIHDLDNISFPKQGS* 01BR026 ENSG00000108651.10 ENSG00000265689.1 -/- +/+ chr17:31868046 chr17:33688850 CDS/splice-site exon inversion 7 4 0 201 41 high out-of-frame . U3_small_nucleolar_RNA-associated_protein_6(100%)| . . ENSG00000108651.10 ENSG00000265689.1 ENST00000261708.9 ENST00000577584.1 upstream upstream . ^(GTCTCCGAACCTGAAACCGGGAGCTTCCTGCTCGTGTTCGCTGTTGAGAAGCTACCCGCGGGGTTGTAGACCTCGGACCTCATGGCAGAGATAATTCAGGAACGCATAGAAGATCGGCTCCCGGAATTGGAACAGCTGGAGCGCATTGGACTGTTCAGTCATGCGGAGATTAA___GGCTATCATTAAGAAGGCTTCCGATCTAGAGTACAAAATCCAGAGAAGAACCCTTTTCAAGGAAGACTTTATCAATTATGTTCAA___TATGAAATTAATCTTTTGGAGCTGATCCAGAGAAGAAGAACA___CGCATTGGATATTCATTTAAGAAGGATGAGATTGAGAATTCTATTGTACACCGGGTACAAGGTGTTTTCCAGCGTGCCTCAGCAAAATGGAAA___GACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGG___GCTACTAAAACTCGACTTAGCAAGGTATTCTCTGCCATGTTGGCGATTCATTCCAACAAACCAG___CTTTGTGGATTATGGCAGCCAAATGGGAAATGGAAGATCGATTGTCTTCAGAAAGCGCAAGGCAACTATTTCTTCGCGCACTGCGCTTTCATCCAGAGTGCCCAAAACTTTATAAAGAA___TACTTTAGGATGGAGCTGATGCATGCTGAAAAACTGAGGAAGGAGAAGGAAGAATTTGAAAAAGCCAGTATGGATGTG___GAGAATCCTGATTATTCTGAAGAAATCCTTAAGGGCGAGTTGGCATGGATCATCTACAAAAATTCTGTAAGCATAATTAAAG___GTGCAGAATTTCACGTGTCACTGCTTTCGATTGCACAGCTATTTGACTTTGCCAAAGATCTACAAAAAGAGATTTATGATGA___CCTTCAGGCTCTACACACAGATGATCCTCTCACTTGGGATTATGTGGCAAGGCGAGAATTAGAGATTGAGTCACAGACAGAAGAGCAGCCTACAACGAAACAAGCCAAAGCAGTGGAGGTCGGCCGGAAGGAGGAGAGGTGCTGTGCTGTGTATGAAGAGGCAGTGAAGACTCTGCCAACAG___AGGCCATGTGGAAGTGTTACATCACCTTTTGCTTGGAAAGATTTACTAAGAAGTCAAATAGTGGGTTCCTTAGAGGGAAG___AGGTTGGAAAGAACCATGACTGTATTCAGGAAGGCACATGAACTGAAGCTTCTGTCAGAATGCCAATACAAGCAGTTG___AGTGTTTCGTTGCTGTGTTATAACTTCCTGAGGGAAGCTCTGGAAGTGGCAGTAGCTGGAACTGAATTGTTTAGAGACTCTGGGACAATGTGGCAGCTGAAGCTGCAGGTGCTGATCGAGTCAAAGAGCCCTGACATAGCCATGCTTTTTGAAGAAGCCTTTGTGCACCTGAAACCCCAG___GTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGC)CAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAG___AAAGCTCTCTTAGCTGTCATAGGTGCCGACTCAGTAACCCTGAAGAATAAGTACCTGGATTGGGCTTATCGAAGTGGTGGCTACAAAAAGGCCAGAGCTGTGTTTAAAAG___TTTACAGGAGAGCCGACCATTTTCAGTTGACTTTTTCAGGAAAATGATTCAGTTTGAAAAGGAGCAA|GTGTCTCTGCAGGAAACAATGTGGACAATCACAGTAGTTGGAAGGACAATGACTGACCTAATGGAGTTCAGGACGCTATGACTGTTGGCACCTGATGTGCACAGCTGCTCCCATCTGCGCAGAGAGAATATAAAGGCAGTGGCGCTGAAACATCTGCTGCTTTCACTCACCATCAAGATGGAACTGACTGTACATGCAAG(CAAATTTTGATGAAGAGAGTGATCTCAGAGTGCGAAGATAAGTTGTTTCTCCTTGACACCTAGGAATGCACCTGGCCAAGACCCTCAGTTGAAAGACAATATCAAATAAATGCAAAATCTAAATA)$ MAEIIQERIEDRLPELEQLERIGLFSHAEIKAIIKKASDLEYKIQRRTLFKEDFINYVQYEINLLELIQRRRTRIGYSFKKDEIENSIVHRVQGVFQRASAKWKDDVQLWLSYVAFCKKWATKTRLSKVFSAMLAIHSNKPALWIMAAKWEMEDRLSSESARQLFLRALRFHPECPKLYKEYFRMELMHAEKLRKEKEEFEKASMDVENPDYSEEILKGELAWIIYKNSVSIIKGAEFHVSLLSIAQLFDFAKDLQKEIYDDLQALHTDDPLTWDYVARRELEIESQTEEQPTTKQAKAVEVGRKEERCCAVYEEAVKTLPTEAMWKCYITFCLERFTKKSNSGFLRGKRLERTMTVFRKAHELKLLSECQYKQLSVSLLCYNFLREALEVAVAGTELFRDSGTMWQLKLQVLIESKSPDIAMLFEEAFVHLKPQVCLPLWISWAEWSEGAKSQEDTEAVFKKALLAVIGADSVTLKNKYLDWAYRSGGYKKARAVFKSLQESRPFSVDFFRKMIQFEKEQ|vslqetmwtitvvgrtmtdlmefrtl* 01BR026 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 9 0 11 46 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1) GCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGAC(CTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 01BR026 ENSG00000160551.11 ENSG00000279668.3 +/+ -/+ chr17:29480481 chr17:33850121 CDS/splice-site intron deletion/5'-5' 5 4 0 33 24 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000160551.11 ENSG00000279668.3 ENST00000261716.7 . downstream upstream inconsistently_clipped(1) ^(CTTACCAGGGGTGGTGTTGGTGGCGGAGGGCTGCGCGTGGGCCCGCCCGCCGAGGGGCCGCGGCGGGGGACCGAGAGGGCCTCGGCTGTGTGAGGACTAGAGGCGGCCGAGGCCCGGGCCGGTTCCCCCGAGGCGGCGACGGAGACGGCTCCCGGCACTTCCCCGCGCCATCTTAACTGAGCCCAAGCGCTGAGGGCGCCTCCTCGACCCCGGTCGTCCCCTCGCCCCCCCCCCCACCCCCCGCCGCCGCCGCCCCTTGTTGCAGAGCTTGGGCTGGGCGGCTTGCTGGGGCTCGGGGGTGGGGGGCGGCGATCTGTCGCCGGGCCCCCTCCTCCTCCTCACTCCTCACCCTCCAGGGTAGCGGCTACCGGAGCGCTGCAGGGGGCTGCGCCTGCCTGCTCCGCCCCAGACCTGTCGGCGAAAGG___TAGTTTATGCCAACGTGACTTCATTCATACAGATGAACCAAGGATCGGGATAGCAGTATAAAATTAGAATCAAGACAGCTGACTGCTCAGCAGGATGCCATCAACTAACAGAGCAGGCAGCCTGAAGGACCCTGAAATTGCAGAGCTCTTCTTCAAAGAAGATCCAGAGAAGCTCTTCACAGATCTCAGAGAAATTGGCCATGGAAGCTTTGGAGCAGTGTATTTT___GCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAG___AAATGGCAGGATATTATTAAGGAAGTCAAGTTTCTACAAAGAATAAAACATCCCAACAGTATAGAATACAAAGGCTGTTATTTACGTGAACACACAGCATGG___CTTGTAATGGAATATTGTTTAGGATCTGCTTCGGATTTACTAGAAG___TTCACAAAAAGCCATTAC)AAGAAGTGaAAATAGCAGCAATTACACATGGTGCTCTTCAGGGATTAGCCTACTTACATTCTCATACTATGATTCATAG___AGATATCAAAGCAGGAAATATCCTTCTGACAGAACCAGGCCAGGTGAAACTTGCTGACTTTGGCTCTGCTTCCATGGCATCACCTGCCAATTCCTTTGTGGGAACGCCGTATTG|TTCAGGTGCTCACAAAATCAGGGCTTATGGCCCACTGAGGTTTGGGGATCAGTTgTGAGGCCAAGAAGAATTGGAAGGGACCATGGGAGTGATGCAGGCCGACAAATGAACCTGTGCTGTATCCATTTCCTCTCCTTAAACTGCATGTTCATG MPSTNRAGSLKDPEIAELFFKEDPEKLFTDLREIGHGSFGAVYFARDVRTNEVVAIKKMSYSGKQSTEKWQDIIKEVKFLQRIKHPNSIEYKGCYLREHTAWLVMEYCLGSASDLLEVHKKPLQEVkIAAITHGALQGLAYLHSHTMIHRDIKAGNILLTEPGQVKLADFGSASMASPANSFVGTPYc|sgahkiraygplrfgdql* 01BR026 ENSG00000160551.11 ENSG00000108684.14 +/+ -/+ chr17:29480481 chr17:33850121 CDS/splice-site intron deletion/5'-5' 5 4 0 33 24 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000160551.11 ENSG00000108684.14 ENST00000261716.7 . downstream upstream inconsistently_clipped(1) ^(CTTACCAGGGGTGGTGTTGGTGGCGGAGGGCTGCGCGTGGGCCCGCCCGCCGAGGGGCCGCGGCGGGGGACCGAGAGGGCCTCGGCTGTGTGAGGACTAGAGGCGGCCGAGGCCCGGGCCGGTTCCCCCGAGGCGGCGACGGAGACGGCTCCCGGCACTTCCCCGCGCCATCTTAACTGAGCCCAAGCGCTGAGGGCGCCTCCTCGACCCCGGTCGTCCCCTCGCCCCCCCCCCCACCCCCCGCCGCCGCCGCCCCTTGTTGCAGAGCTTGGGCTGGGCGGCTTGCTGGGGCTCGGGGGTGGGGGGCGGCGATCTGTCGCCGGGCCCCCTCCTCCTCCTCACTCCTCACCCTCCAGGGTAGCGGCTACCGGAGCGCTGCAGGGGGCTGCGCCTGCCTGCTCCGCCCCAGACCTGTCGGCGAAAGG___TAGTTTATGCCAACGTGACTTCATTCATACAGATGAACCAAGGATCGGGATAGCAGTATAAAATTAGAATCAAGACAGCTGACTGCTCAGCAGGATGCCATCAACTAACAGAGCAGGCAGCCTGAAGGACCCTGAAATTGCAGAGCTCTTCTTCAAAGAAGATCCAGAGAAGCTCTTCACAGATCTCAGAGAAATTGGCCATGGAAGCTTTGGAGCAGTGTATTTT___GCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAG___AAATGGCAGGATATTATTAAGGAAGTCAAGTTTCTACAAAGAATAAAACATCCCAACAGTATAGAATACAAAGGCTGTTATTTACGTGAACACACAGCATGG___CTTGTAATGGAATATTGTTTAGGATCTGCTTCGGATTTACTAGAAG___TTCACAAAAAGCCATTAC)AAGAAGTGaAAATAGCAGCAATTACACATGGTGCTCTTCAGGGATTAGCCTACTTACATTCTCATACTATGATTCATAG___AGATATCAAAGCAGGAAATATCCTTCTGACAGAACCAGGCCAGGTGAAACTTGCTGACTTTGGCTCTGCTTCCATGGCATCACCTGCCAATTCCTTTGTGGGAACGCCGTATTG|TTCAGGTGCTCACAAAATCAGGGCTTATGGCCCACTGAGGTTTGGGGATCAGTTgTGAGGCCAAGAAGAATTGGAAGGGACCATGGGAGTGATGCAGGCCGACAAATGAACCTGTGCTGTATCCATTTCCTCTCCTTAAACTGCATGTTCATG MPSTNRAGSLKDPEIAELFFKEDPEKLFTDLREIGHGSFGAVYFARDVRTNEVVAIKKMSYSGKQSTEKWQDIIKEVKFLQRIKHPNSIEYKGCYLREHTAWLVMEYCLGSASDLLEVHKKPLQEVkIAAITHGALQGLAYLHSHTMIHRDIKAGNILLTEPGQVKLADFGSASMASPANSFVGTPYc|sgahkiraygplrfgdql* 01BR026 ENSG00000176658.17 ENSG00000108651.10 -/- -/- chr17:32605087 chr17:31880754 CDS/splice-site CDS/splice-site deletion 4 5 0 157 152 high in-frame . IQ_calmodulin-binding_motif(100%),Myosin_head_(motor_domain)(100%),Unconventional_myosin_tail__actin-_and_lipid-binding(100%)| . . ENSG00000176658.17 ENSG00000108651.10 ENST00000318217.10 ENST00000261708.9 upstream downstream . ^(ACAGCGCCCGGCAGCCGCGGCGGGAGGAGCGGAAACTGTCGGGTGCGTCCCGTTCGGAGCCGCGCCGGCCGAGAAGGCGCCGAGGAGCAGCGAGGCGGCCTCTGTCCGGCCCGGACCCGCCGAGCGGCGTGCGCGCCCCCTCCCCGTAGCCTCGCGGCGCGGCCTCGCCCCGGCCCCTCCCGAGCTCATCGCGGGCCCACGGAGCGGCCCCGGAGGCCCGAGCGCGCCCACCTGAGCCCCCGCGCTGGCGCCATGGCGGAGCAGGAGAGCCTGGAATTCGGCAAGGCAGACTTCGTGCTGATGGACACCGTCTCCATGCCCGAGTTCATGGCCAACCTCAGGCTCAG___ATTTGAAAAAGGGCGCATCTATACGTTCATTGGAGAAGTCGTCGTTTCTGTGAACCCTTACAAGTTGTTGAACATCTATGGAAGAGACACAATTGAGCAGTATAAAGGCCGTGAGCTGTATGAGAGACCGCCTCACCTTTTTGCTATTGCGGATGCTGCTTACAAGGCTATGAAGAGGCGATCAAAAGACACTTGTATTGTGATATCAG___GGGAAAGTGGAGCTGGTAAAACGGAAGCCAGTAAGTACATTATGCAGTATATTGCGGCCATCACCAACCCCAGTCAGAGAGCAGAGGTTGAAAG___AGTGAAGAATATGTTGCTTAAGTCCAACTGTGTTTTGGAAGCTTTTGGAAATGCCAAAACCAACCGTAATGACAACTCAAGCAGGTTTGGAAAATACATGGATATCAACTTTGACTTCAAGGGTGACCCTATTGGTGGGCATATCAATAACTACTTACTAGAAAAG___TCTCGAGTGATTGTGCAACAGCCAGGAGAAAGAAGCTTTCATTCTTTCTATCAG___CTACTCCAAGGAGGTTCAGAACAAATGCTACGCTCTCTACATCTCCAGAAATCCCTTTCATCCTACAACTATATTCATGTGGGAGCTCAATTAAAG___TCTTCTATCAATGATGCTGCCGAATTCAGAGTTGTTGCTGATGCCATGAAAGTCATTGGCTTCAAACCTGAGGAGATCCAAACAGTGTATAAGATTTTGGCTGCTATTCTGCACTTG___GGAAATTTAAAATTTGTAGTAGATGGTGACACGCCTCTTATTGAGAATGGCAAAGTAGTATCTATCATAGCAGAATTGCTCTCTACTAAGACAGATATGGTTGAGAAAGCCCTTCTTTACCGGACTGTGGCCACAGGCCGTGACATCATTGACAAGCAGCACACAGAACAAGAGGCCAGCTACGGCAGAGACGCCTTTGCCAAG___GCAATATATGAGCGCCTTTTTTGTTGGATCGTTACTCGCATCAATGATATTATTGAGGTCAAGAACTATGACACCACAATCCATGGGAAAAACACTGTTATTGGTGTCTTGGATATCTATGGCTTTGAAATCTTTGACAACAACAG___TTTTGAACAATTCTGTATCAATTACTGCAATGAGAAACTGCAGCAGCTATTTATTCAGCTGGTTCTGAAGCAAGAACAAGAGGAATACCAGCGGGAAGGGATCCCCTGGAAACAT___ATTGACTACTTCAACAATCAGATCATTGTTGACCTCGTGGAGCAACAGCACAAAGGGATCATTGCAATCCTTGATGATGCTTGCATGAATGTCGGCAAAGTCACCGATGAAATGTTTCTTGAAGCACTTAACAGTAAATTGGGCAAACACGCCCATTTTTCCAGCCGAAAG___CTCTGTGCCTCAGACAAAATTCTGGAGTTTGATCGAGATTTTCGAATTCGACATTATGCAGGCGATGTAGT___CTATTCTGTCATTGGTTTTATTGACAAAAATAAAGATACTTTATTTCAAGATTTCAAGCGCCTTATGTATAACAG___TTCAAATCCTGTGCTCAAGAATATGTGGCCTGAAGGCAAACTGAGCATTACAGAGGTGACCAAGCGACCTCTGACTGCTGCTACCTTGTTTAAGAATTCTATGATTGCTCTAGTAGACAACCTTGCATCAAAG___GAACCATATTACGTTCGTTGCATCAAACCCAATGACAAGAAATCTCCACAGATATTTGATGATGAACGCTGCCGGCACCAAGTAGAATATCTTGGACTACTGGAAAATGTGAGAGTGCGTCGGGCAGGATTTGCCTTCCGCCAGACATACGAGAAGTTTCTTCACAG___GTATAAGATGATCTCTGAATTCACCTGGCCCAACCATGACCTTCCTTCAGACAAAGAGGCTGTCAAGAAACTAATTGAACGGTGTGGTTTTCAGGATGATGTAGCTTATGGGAAGACCAAAATTTTCATTCGAACACCCCGAACATTGTTTACCTTGGAAGAACTCCGTGCCCAGATGCTCATAAGGATTGTCCTCTTTCTACAAAAG___GTGTGGCGGGGCACCCTGGCCCGCATGCGGTACAAAAGAACCAAGGCAGCTCTGACAATAATCAGGTACTACCGGCGCTACAAAGTGAAGTCGTACATCCACGAGGTGGCCAGACGCTTCCATGGCGTCAAGACCATGCGAGACTACGGGAAGCACGTGAAGTGGCCAAGCCCTCCTAAAGTTCTTCGCCGTTTTGAGGAGGCCCTGCAGACGATTTTCAATAG___ATGGAGAGCATCCCAGCTCATCAAGAGCATTCCGGCCTCAGACCTGCCCCAGGTCAGGGCAAAGGTTGCAGCCGTGGAAATGTTGAAGGGTCAAAGGGCTGACCTCGGGCTCCAGAGGGCCTGGGAGGGCAACTATCTTGCTTCA___AAGCCAGATACACCTCAGACCTCAGGCACTTTTGTCCCTGTTGCTAATGAATTGAAACGGAAGGACAAATACATGAATGTCCTCTTTTCCTGTCACGTCCGTAAG___GTAAATCGATTTAGTAAGGTGGAAGACAGAGCAATTTTTGTCACTGACCGTCACCTGTATAAAATGGATCCCACTAAACAGTACAAGGTGATGAAGACT)ATCCCTCTATACAAT___TTGACTGGTCTGAGTGTCTCCAATGGAAAGGACCAACTTGTAGTGTTCCATACGAAAGACAACAAAGACCTCATTGTCTGCCTCTTCAGCAAACAGCCAACCCATGAGAGTCGAATTGGAGAACTTGTTGGAGTGCTGGTGAATCATTTCAAGAG|CCTTCAGGCTCTACACACAGATGATCCTCTCACTTGGGATTATGTGGCAAGGCGAGAATTAGAGATTGAGTCACAGACAGAAGAGCAGCCTACAACGAAACAAGCCAAAGCAGTGGAGGTCGGCCGGAAGGAGGAGAGGTGCTGTGCTGTGTATGAAGAGGCAGTGAAGACTCTGCCAACAG___AGGCCATGTGGAAGTGTTACATCACCTTTTGCTTGGAAAGATTTACTAAGAAGTCAAATAGTGGGTTCCTTAGAGGGAAG___AGGTTGGAAAGAACCATGACT(GTATTCAGGAAGGCACATGAACTGAAGCTTCTGTCAGAATGCCAATACAAGCAGTTG___AGTGTTTCGTTGCTGTGTTATAACTTCCTGAGGGAAGCTCTGGAAGTGGCAGTAGCTGGAACTGAATTGTTTAGAGACTCTGGGACAATGTGGCAGCTGAAGCTGCAGGTGCTGATCGAGTCAAAGAGCCCTGACATAGCCATGCTTTTTGAAGAAGCCTTTGTGCACCTGAAACCCCAG___GTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAG___AAAGCTCTCTTAGCTGTCATAGGTGCCGACTCAGTAACCCTGAAGAATAAGTACCTGGATTGGGCTTATCGAAGTGGTGGCTACAAAAAGGCCAGAGCTGTGTTTAAAAG___TTTACAGGAGAGCCGACCATTTTCAGTTGACTTTTTCAGGAAAATGATTCAGTTTGAAAAGGAGCAA___GAATCCTGCAATATGGCGAACATAAGAGAATATTATGAGAGAGCTTTGAGAGAGTTTGGATCCGCAGATTCTG___ATCTTTGGATGGATTATATGAAAGAAGAATTGAACCACCCCCTTGGTAGACCTGAGAACTGTGGACAGATCTACTGGCGAGCGATGAAAATGTTGCAGGGAGAGTCAGCAGAGGCATTTGTAGCTAAACATGCTATGCATCAGACTGGCCATTTATGAAGATGAAGAATACAGTCAGCTTTGTGAAATAGTATTGCAAGCAAGCCCCGTGGGCAAATTTGTATTGAGTCCATCTGTAATTTGCTCAGTGATGGCAGACAAGATGGCTGTCTGGTTTTGAGACACACTTTAATTTTATGTTAACTTGTTAAATCTTTTTAAAAATTAAAAAATTTTTATGATTGAGACTGGGTCTTGCTCTGTTGCCCTGGCTGGTCTTGAACTCCTGGACTCAAGTGACCTTCTCACCTCAGACTCCTGAGTAGCTGGGATTATAGGTGCATGACACTGCTCAGTTTGATGTGCTAATCTGATTCCAGTAAAGAGAATTGCTGATTTAATGTTGAGGCCCGATCTTCCACAGGTCCTAAATGTTTCCCAAAATACATGGATAGCATACGACTGGGTTTTTTTAAAATTATCCCAGGTCAAGCATGAGTATCTCTAATCTCGACCTAAGAGCCAGTTAAAATGAAGGAGAAAGTGGCCAGGCATGGTGACTCAACGCCTGTAATCCCAGCACTTTGGGAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCTACTCCATCCTGGGTAAGAAGAGCGAAACTCCTTCTCAAGGAAAAAAAAAAAGGAGAAAGTACAGTTTTGTTGGTTTATTCTCATTATAAAAGATACGTGGTATGCATTTGTTCTGGAAAATATGGAGGAAATAGAATAGTGTGGTAAAAAAAAGCATCCTGTCACTGGGAGAAGCTTTCAGTGTAGCTTATTGTTACGTTTCACTTAGTATTGTTTTTCTGTGTCATTAAATAGCCTTAAAAACATTTAATGAATTCGTAACATTACATTGTAAAAATGAGCCATAATATATTTTACTAATCCTCTGGTTAGACTGTCTTTTTTTTTTTGAGATGGAGCCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCTCCATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGGTTCTGGCTCAGCCTCCCGAGCAGCTGGGTGGGATTACAGGCACCCGCCACCGCGCCCAGCCAATTTTTGTATTTTTAGTAGTGCGGGGGTTTCATCATATTGGCCAGGCTGGTTGCGAACTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAACCACTAAGCCTGGCCTGGACTGTCATTTCTAATTTTTTTAAAAATTAGATAAATGCTGTTGATGAAGATTCTTGTCAATCTTTGTTCACATCCCTGGCCATTTCCTTAGGAGATTGACATCCGACAGTGGAATTACTGGATCAAAGGATACTGCTTTTAGAGAATACTGATATGTATTGCTGGTTTGCTCCTTCTTTCAAGCAATACATGAAAGTGTCAGTACCCTTACCTGTACTGGTGTAATTATATCTTTTATTTTTACCATTTTATAGGTGAAATGTGATATGTCATTGTTTTACCATACTTTGATATTAGTGAAGTTAGTGTATTTTATGTTTCTCATCTTTTTACATCCTTAGACTATTTAAAAATTTTTTTTCTTACTAATTTATGAGTTAATTTTTTTTTTTAAATTGGACAAGTTCTTGCTTTGTCACCTAGGCTAGAGTGCAGTGGTGTGATCATGGCTCACTACAGCCTTAACTTCTGGGCTCAAGAGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGACTGCAGGTGCACACCACCATGCCTGGTTAATTTAAATTTTTTTTTGTAGAGACTGGTCTTGCTATGTTGCCAGGGCTGGTCTCTTAAACAGTTGGGCTCAAACAATCCTCCTACCTCAACCTCCCAAAGTGCTGGTATTATAGGCATGAGCCATTGTGCCTGGCCAGAGTTTTTAAAAACATATTCAGAATATTAATATCTTGTTTCTCATTTGTTGCAAATAATTTTACCCCCAGCCTTGTTTGTGGTGATTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGTCCAGGCTGGAGTGCAGTGGTGTGGTCTTACTGCAACCTCTGCCTCCTAGGTTCAAACAGTTCTCCCTGCCAAAGCCTCCCAAGTAGCTGGGATTATAGGCACCTTTTGTGGCGATTTTTGATGCCCAGAGGTATTTTGTGTGTGTATGTGTGATGTCTGTTTTTAAAATGCTTTGGAAGCTCTTCCTGGTGCTGAGAACAACTCTTTTTCCCCAAGCAGTTAATTTTGCCAACACTATTTGGGCAGTTATGTTTCTCTCTGCTGATTTGTGATGTTACCTTTATTATATATTAAATTTCTATGAGTA)$ MAEQESLEFGKADFVLMDTVSMPEFMANLRLRFEKGRIYTFIGEVVVSVNPYKLLNIYGRDTIEQYKGRELYERPPHLFAIADAAYKAMKRRSKDTCIVISGESGAGKTEASKYIMQYIAAITNPSQRAEVERVKNMLLKSNCVLEAFGNAKTNRNDNSSRFGKYMDINFDFKGDPIGGHINNYLLEKSRVIVQQPGERSFHSFYQLLQGGSEQMLRSLHLQKSLSSYNYIHVGAQLKSSINDAAEFRVVADAMKVIGFKPEEIQTVYKILAAILHLGNLKFVVDGDTPLIENGKVVSIIAELLSTKTDMVEKALLYRTVATGRDIIDKQHTEQEASYGRDAFAKAIYERLFCWIVTRINDIIEVKNYDTTIHGKNTVIGVLDIYGFEIFDNNSFEQFCINYCNEKLQQLFIQLVLKQEQEEYQREGIPWKHIDYFNNQIIVDLVEQQHKGIIAILDDACMNVGKVTDEMFLEALNSKLGKHAHFSSRKLCASDKILEFDRDFRIRHYAGDVVYSVIGFIDKNKDTLFQDFKRLMYNSSNPVLKNMWPEGKLSITEVTKRPLTAATLFKNSMIALVDNLASKEPYYVRCIKPNDKKSPQIFDDERCRHQVEYLGLLENVRVRRAGFAFRQTYEKFLHRYKMISEFTWPNHDLPSDKEAVKKLIERCGFQDDVAYGKTKIFIRTPRTLFTLEELRAQMLIRIVLFLQKVWRGTLARMRYKRTKAALTIIRYYRRYKVKSYIHEVARRFHGVKTMRDYGKHVKWPSPPKVLRRFEEALQTIFNRWRASQLIKSIPASDLPQVRAKVAAVEMLKGQRADLGLQRAWEGNYLASKPDTPQTSGTFVPVANELKRKDKYMNVLFSCHVRKVNRFSKVEDRAIFVTDRHLYKMDPTKQYKVMKTIPLYNLTGLSVSNGKDQLVVFHTKDNKDLIVCLFSKQPTHESRIGELVGVLVNHFKs|LQALHTDDPLTWDYVARRELEIESQTEEQPTTKQAKAVEVGRKEERCCAVYEEAVKTLPTEAMWKCYITFCLERFTKKSNSGFLRGKRLERTMTVFRKAHELKLLSECQYKQLSVSLLCYNFLREALEVAVAGTELFRDSGTMWQLKLQVLIESKSPDIAMLFEEAFVHLKPQVCLPLWISWAEWSEGAKSQEDTEAVFKKALLAVIGADSVTLKNKYLDWAYRSGGYKKARAVFKSLQESRPFSVDFFRKMIQFEKEQESCNMANIREYYERALREFGSADSDLWMDYMKEELNHPLGRPENCGQIYWRAMKMLQGESAEAFVAKHAMHQTGHL* 01BR026 ENSG00000050344.9 ENSG00000285960.1 +/+ +/+ chr7:26183784 chr7:25481784 CDS/splice-site exon/splice-site duplication 5 2 0 133 7 high out-of-frame . . . . ENSG00000050344.9 ENSG00000285960.1 ENST00000056233.4 ENST00000650415.1 downstream upstream duplicates(1) ^(GGAGCTTGGCCACCGCGCCGGGCTGCGGGCGGCTGGGCGAACGGGCTCGGCGCTCAGGTGGCTCCTTCTTCGCTTCTCCCGATCCCCGGCGGTGCCAGGCACGGTGCCGGCTGCCGAGGGAACGCCTTTGTGCCCGGTGCTGGGAACCCGCGACGGCCGCCACGCGCCCCGGTCCATTGTTTCGCTTATCTGGGTTCCAGGCAGGTGCGGGCGGCGCGCGGGGTCCGCACGTGTCACCCCGGCGGCTGGGGCGCCGGGACCCGCGGGCGCCGGCAGGGGCGTTCCCGGGCGCGCGGCGGCGATGAAGCACCTGAAGCGGTGGTGGTCGGCCGGCGGCGGCCTCCTGCACCTCACCCTCCTGCTGAGCTTGGCGGGGCTCCGCGTAGACCTAGATCTTTACCTGCTGCTGCCGCCGCCCACCCTGCTGCAGGACGAGCTGCTGTTCCTGGGCGGCCCGGCCAGCTCCGCCTACGCGCTCAGCCCCTTCTCGGCCTCGGGAGGGTGGGGGCGCGCGGGCCACTTGCACCCCAAGGGCCGGGAGCTGGACCCTGCCGCGCCGCCCGAGGGCCAGCTGCTCCGGGAGGTGCGCGCGCTCGGGGTCCCCTTCGTCCCTCGCACCAGCGTGGATGCATGGCTGGTGCACAGCGTGGCTGCCGGGAGCGCGGACGAGGCCCACGGGCTGCTCGGCGCCGCCGCCGCCTCGTCCACCGGAGGAGCCGGCGCCAGCGTGGACGGCGGCAGCCAGGCTGTGCAGGGGGGCGGCGGGGACCCCCGAGCGGCTCGGAGTGGCCCCTTGGACGCCGGGGAAGAGGAGAAGGCACCCGCGGAACCGACGGCTCAGGTGCCGGACGCTGGCGGATGTGCGAGCGAG___GAGAATGGGGTACTAAGAGAAAAGCACGAAGCTGTGGATC)ATAGTTCCCAGCATGcGGAAAATGAAGAAAGGGTGTCAGCCCAGAAGGAGAACTCACTTCAGCAGAATGATGATGATGAAAACAAAATAGCAGAGAAACCTGACTGGGAGGCAGAAAAGACCACTGAATCTAGAAATGAG___AGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAG|ATCAGCTGGTGTGTTCATCTCATTCTGAGAATCAGGCTGAAGGAACAACCTCTATCTGGAACATGCTTTACATATCAGAAGGAGAAGAAAGAAAGCAGGGAAAGAAAACAGGCATCATGATGGCAACTAAAG(G___GTGATGAGCTTGTTTCCCACTTCACTGGAAAACAAAATGGGAATATTCAGAAGATAAGTTCCACAGCTCCCATAGCATCTTCCTATCTACCAGGATTTGGACCTTCTACACCCTGCTCCCATTAAGGAATTAGCCTTGCTCTTGTCCAAAACTAGCCTTTGCGTATGCCTTAGATCCTATCCCCCTTGCTTGCTCACAGGCTTTGCTCCAGCAATTCTCCCTATTTTTCCCCTATACCATCAGCTTCCTCTCTCTACTAGGTCATTTCCACCAGCACACAACAATACTGTCTCTCTCATCTTAGAAATGGAAACTAACAAAATTGAGTTCACTTTTCCTTCTGACACTATCCCTTTTCTACCTCCCCCACTTTACAGCAAAACTCTTTGAAAGCTGCCTGAATTTCACTGCTTCCATTTCCTCTCCTCTTCTCACTTAAACCTACTGCTGCCAGAACCGGGACTCCACCACCTCACCAGACCCCTGCTTGTCAATATCATCAATGACTTCCATCTTGCTAAATCCATTTCTTGTCCCCATTGAACTTGACCCTCAGTAACACCTTGTCAAATTAACCACTCCCTTCTCATGGAAATGATTTCTTGTTTTCTAAGACACTACACATTTCGTTTTCCTTCAACACCCCTGGATGCTGCTTCCCAGTCTTGTCCCTTAACCTCCTAGCACTGAAGTGATGCAGGGCTCAGTCCACAGATCTCTTCATCTTTCCTGTTCACTCCATACTCACCCTCTTGGTAATTCCCTTCCAGTTTCATCGTTTAAATGGCATCTGTCTGCAAATGATTATCAAATGTATGCCTCCAGCCATGGCCACTGCTCTCAACGTTAGCTTATCCATCTAACTGTCAACTCTGTATCTCTACCTGGACGCCTGATGGAGGTCTCCAATGTACCATGCCCTAAACTGAAATTTTGATCTTCTTTATCCACAGAATCTGCTCGACCCTATCTCAGTTAAAGGTATCTATGCCCTGGTCTAGAAGGCCTTCAGTAATTAGAAAGCATGTATTTTGTGTGTATGCCTTGATAAGTGTTGACTGTAGCTATAGCAAGGGATAATTCATCATCAGGAAATGGTCAGGAGAGTGTCTCCAAATCTTTTAAGCATGCGCTAACCTTCATATATAGGGTCCTTGTATTACCTTTTCTCAAGTTGTAC)$ MKHLKRWWSAGGGLLHLTLLLSLAGLRVDLDLYLLLPPPTLLQDELLFLGGPASSAYALSPFSASGGWGRAGHLHPKGRELDPAAPPEGQLLREVRALGVPFVPRTSVDAWLVHSVAAGSADEAHGLLGAAAASSTGGAGASVDGGSQAVQGGGGDPRAARSGPLDAGEEEKAPAEPTAQVPDAGGCASEENGVLREKHEAVDHSSQHaENEERVSAQKENSLQQNDDDENKIAEKPDWEAEKTTESRNERHLNGTDTSFSLEDLFQLLSSQPENSLE|iswcvhlilrirlkeqplsgtcftyqkekkesrerkqas* 01BR026 ENSG00000050344.9 ENSG00000285960.1 +/+ +/+ chr7:26183784 chr7:25499264 CDS/splice-site exon/splice-site duplication 1 6 0 133 61 high out-of-frame . . . . ENSG00000050344.9 ENSG00000285960.1 ENST00000056233.4 ENST00000650415.1 downstream upstream duplicates(1),inconsistently_clipped(1),mismatches(1) ^(GGAGCTTGGCCACCGCGCCGGGCTGCGGGCGGCTGGGCGAACGGGCTCGGCGCTCAGGTGGCTCCTTCTTCGCTTCTCCCGATCCCCGGCGGTGCCAGGCACGGTGCCGGCTGCCGAGGGAACGCCTTTGTGCCCGGTGCTGGGAACCCGCGACGGCCGCCACGCGCCCCGGTCCATTGTTTCGCTTATCTGGGTTCCAGGCAGGTGCGGGCGGCGCGCGGGGTCCGCACGTGTCACCCCGGCGGCTGGGGCGCCGGGACCCGCGGGCGCCGGCAGGGGCGTTCCCGGGCGCGCGGCGGCGATGAAGCACCTGAAGCGGTGGTGGTCGGCCGGCGGCGGCCTCCTGCACCTCACCCTCCTGCTGAGCTTGGCGGGGCTCCGCGTAGACCTAGATCTTTACCTGCTGCTGCCGCCGCCCACCCTGCTGCAGGACGAGCTGCTGTTCCTGGGCGGCCCGGCCAGCTCCGCCTACGCGCTCAGCCCCTTCTCGGCCTCGGGAGGGTGGGGGCGCGCGGGCCACTTGCACCCCAAGGGCCGGGAGCTGGACCCTGCCGCGCCGCCCGAGGGCCAGCTGCTCCGGGAGGTGCGCGCGCTCGGGGTCCCCTTCGTCCCTCGCACCAGCGTGGATGCATGGCTGGTGCACAGCGTGGCTGCCGGGAGCGCGGACGAGGCCCACGGGCTGCTCGGCGCCGCCGCCGCCTCGTCCACCGGAGGAGCCGGCGCCAGCGTGGACGGCGGCAGCCAGGCTGTGCAGGGGGGCGGCGGGGACCCCCGAGCGGCTCGGAGTGGCCCCTTGGACGCCGGGGAAGAGGAGAAGGCACCCGCGGAACCGACGGCTCAGGTGCCGGACGCTGGCGGATGTGCGAGCGAG___GAGAATGGGGTACTAAGAGAAAAGCACGAAGCTGTGGATCATAGTTCC)CAGCATGAGGAAAATGAAGAAAGGGTGTCAGCCCAGAAGGAGAACTCACTTCAGCAGAATGATGATGATGAAAACAAAATAGCAGAGAAACCTGACTGGGAGGCAGAAAAGACCACTGAATCTAGAAATGAG___AGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAG|GTGATGAGCTTGTTTCCCACTTCACTGGAAAACAAAATGGGAATATTCAGAAGATAAGTTCCACAGCTCCCATAGCATCTTCCTATCTACCAGGATTTGGACCTTCTACACCCTGCTCCCATTAAGGAATTAGCCTTGCTCTTGTCCAAAACTAGCCTTTGCGTATGCCTTAGATCCTATCCCCCTTGCTTGCTCACAGGCTTTGCTCCAGCAATTCTCCCTATTTTTCCCCTATACCATC(AGCTTCCTCTCTCTACTAGGTCATTTCCACCAGCACACAACAATACTGTCTCTCTCATCTTAGAAATGGAAACTAACAAAATTGAGTTCACTTTTCCTTCTGACACTATCCCTTTTCTACCTCCCCCACTTTACAGCAAAACTCTTTGAAAGCTGCCTGAATTTCACTGCTTCCATTTCCTCTCCTCTTCTCACTTAAACCTACTGCTGCCAGAACCGGGACTCCACCACCTCACCAGACCCCTGCTTGTCAATATCATCAATGACTTCCATCTTGCTAAATCCATTTCTTGTCCCCATTGAACTTGACCCTCAGTAACACCTTGTCAAATTAACCACTCCCTTCTCATGGAAATGATTTCTTGTTTTCTAAGACACTACACATTTCGTTTTCCTTCAACACCCCTGGATGCTGCTTCCCAGTCTTGTCCCTTAACCTCCTAGCACTGAAGTGATGCAGGGCTCAGTCCACAGATCTCTTCATCTTTCCTGTTCACTCCATACTCACCCTCTTGGTAATTCCCTTCCAGTTTCATCGTTTAAATGGCATCTGTCTGCAAATGATTATCAAATGTATGCCTCCAGCCATGGCCACTGCTCTCAACGTTAGCTTATCCATCTAACTGTCAACTCTGTATCTCTACCTGGACGCCTGATGGAGGTCTCCAATGTACCATGCCCTAAACTGAAATTTTGATCTTCTTTATCCACAGAATCTGCTCGACCCTATCTCAGTTAAAGGTATCTATGCCCTGGTCTAGAAGGCCTTCAGTAATTAGAAAGCATGTATTTTGTGTGTATGCCTTGATAAGTGTTGACTGTAGCTATAGCAAGGGATAATTCATCATCAGGAAATGGTCAGGAGAGTGTCTCCAAATCTTTTAAGCATGCGCTAACCTTCATATATAGGGTCCTTGTATTACCTTTTCTCAAGTTGTAC)$ MKHLKRWWSAGGGLLHLTLLLSLAGLRVDLDLYLLLPPPTLLQDELLFLGGPASSAYALSPFSASGGWGRAGHLHPKGRELDPAAPPEGQLLREVRALGVPFVPRTSVDAWLVHSVAAGSADEAHGLLGAAAASSTGGAGASVDGGSQAVQGGGGDPRAARSGPLDAGEEEKAPAEPTAQVPDAGGCASEENGVLREKHEAVDHSSQHEENEERVSAQKENSLQQNDDDENKIAEKPDWEAEKTTESRNERHLNGTDTSFSLEDLFQLLSSQPENSLE|vmslfptslenkmgifrr* 01BR026 ENSG00000050344.9 ENSG00000260951.2 +/+ -/+ chr7:26183784 chr7:25427585 CDS/splice-site intron duplication/5'-5' 2 4 0 133 8 high out-of-frame . . . . ENSG00000050344.9 ENSG00000260951.2 ENST00000056233.4 . downstream upstream . ^(GGAGCTTGGCCACCGCGCCGGGCTGCGGGCGGCTGGGCGAACGGGCTCGGCGCTCAGGTGGCTCCTTCTTCGCTTCTCCCGATCCCCGGCGGTGCCAGGCACGGTGCCGGCTGCCGAGGGAACGCCTTTGTGCCCGGTGCTGGGAACCCGCGACGGCCGCCACGCGCCCCGGTCCATTGTTTCGCTTATCTGGGTTCCAGGCAGGTGCGGGCGGCGCGCGGGGTCCGCACGTGTCACCCCGGCGGCTGGGGCGCCGGGACCCGCGGGCGCCGGCAGGGGCGTTCCCGGGCGCGCGGCGGCGATGAAGCACCTGAAGCGGTGGTGGTCGGCCGGCGGCGGCCTCCTGCACCTCACCCTCCTGCTGAGCTTGGCGGGGCTCCGCGTAGACCTAGATCTTTACCTGCTGCTGCCGCCGCCCACCCTGCTGCAGGACGAGCTGCTGTTCCTGGGCGGCCCGGCCAGCTCCGCCTACGCGCTCAGCCCCTTCTCGGCCTCGGGAGGGTGGGGGCGCGCGGGCCACTTGCACCCCAAGGGCCGGGAGCTGGACCCTGCCGCGCCGCCCGAGGGCCAGCTGCTCCGGGAGGTGCGCGCGCTCGGGGTCCCCTTCGTCCCTCGCACCAGCGTGGATGCATGGCTGGTGCACAGCGTGGCTGCCGGGAGCGCGGACGAGGCCCACGGGCTGCTCGGCGCCGCCGCCGCCTCGTCCACCGGAGGAGCCGGCGCCAGCGTGGACGGCGGCAGCCAGGCTGTGCAGGGGGGCGGCGGGGACCCCCGAGCGGCTCGGAGTGGCCCCTTGGACGCCGGGGAAGAGGAGAAGGCACCCGCGGAACCGACGGCTCAGGTGCCGGACGCTGGCGGATGTGCGAGCGAG___GAGAATGGGGTACTAAGAGAAAAGCACGAAGCTGTGGAT)CATAGTTCCCAGCATGAGGAAAATGAAGAAAGGGTGTCAGCCCAGAAGGAGAACTCACTTCAGCAGAATGATGATGATGAAAACAAAATAGCAGAGAAACCTGACTGGGAGGCAGAAAAGACCACTGAATCTAGAAATGAG___AGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAG|AAAAGAGTTTAAAAAGGTAAAGAAGTACATGGGTGATTTTGGATCAATTTTCCATTTGAAACAGCTCAGCAAACAGCCGACTACGCCTAATGGGCCCTTGAAATGCTCTCTTTTATGAAATTCCAGATGTGAAAAAGGACACACTACAAAGTAAGTGGCAAAGGC MKHLKRWWSAGGGLLHLTLLLSLAGLRVDLDLYLLLPPPTLLQDELLFLGGPASSAYALSPFSASGGWGRAGHLHPKGRELDPAAPPEGQLLREVRALGVPFVPRTSVDAWLVHSVAAGSADEAHGLLGAAAASSTGGAGASVDGGSQAVQGGGGDPRAARSGPLDAGEEEKAPAEPTAQVPDAGGCASEENGVLREKHEAVDHSSQHEENEERVSAQKENSLQQNDDDENKIAEKPDWEAEKTTESRNERHLNGTDTSFSLEDLFQLLSSQPENSLE|krv* 01BR026 ENSG00000251247.11 ENSG00000130758.8 +/+ +/+ chr19:36851904 chr19:40209103 5'UTR/splice-site CDS/splice-site deletion 4 1 0 80 168 high . . . . . ENSG00000251247.11 ENSG00000130758.8 ENST00000420450.6 ENST00000253055.8 downstream upstream duplicates(3) ^GGATTTGGGCAAGCGGCCTTGGGGCTTTGTGAGATAGCTAGGGTCGACTTGTGTGGATTCTAGTAGAACGGAGCTGACCCTATCCGAACAGGC___CCCTGCCCTGCTTGGATAGAGGCCTCCGAACAGGAGTAAAGAATGGCTGTTGAACATCCACAAGGCACCTGCAAG|GCTTTGAGCATAAGATCACAGTCCAGGCCTCTCCAACTCTGGATAAGCGGAAAGGATCCGATGGGGCCAGCCCCCCTGCAAGCCCCAGCATCATCCCCCGGCTGAGGGCCATTCGCC___TGACTCCCGTGGACTGTGGTGGCAGCAGCAGTGGCAGCAGCAGTGGAGGAAGTGGGACATGGAGCCGCGGTGGGCCCCCAAAGAAGGAAGAACTGGTCGaGGG(CAAGAAGAAGGGACGAACGTGGGGGCCCAGCTCCACCCTGCAGAAGGAGCGGGTGGGAGGAGAGGAGAG___GCTGAAGGGGCTGGGGGAAGGAAGCAAACAGTGGTCATCAAGTGCCCCCAACCTGGGCAAGTCCCCCAAACACACACCCATCGCCCCTGGCTTTGCCAGCCTCAATGAGATGG___AGGAGTTCGCGGAGGCAGAGGATGGAGGCAGCAGCGTGCCCCCTTCCCCCTACTCGACCCCGTCCTACCTCTCAGTGCCACTGCCTGCCGAGCCCTCCCCGGGGGCGCGGGCGCCGTGGGAGCCGACGCCGTCCGCGCCCCCCGCTCGGTGGGGACACGGCGCCCGGCGGCGCTGCGACCTGGCGCTGCTAGGCTGCGCCACGCTGCTGGGGGCTGTGGGCCTGGGCGCCGACGTGGCCGAGGCGCGCGCGGCCGACGGTGAGGAGCAGCGGCGCTGGCTCGACGGCCTCTTCTTTCCCCGCGCCGGCCGCTTCCCGCGGGGCCTCAGCCCACCCGCGCGTCCCCACGGCCGCCGCGAAGACGTGGGCCCCGGCCTGGGCCTGGCGCCCTCGGCCACCCTCGTGTCGCTGTCGTCCGTGTCCGACTGCAACTCCACGCGTTCACTGCTGCGCTCTGACAGTGACGAGGCCGCACCGGCCGCGCCCTCCCCACCACCCTCCCCGCCCGCGCCCACACCCACGCCCTCGCCCAGCACCAACCCCCTGGTGGACCTGGAGCTGGAGAGCTTCAAGAAGGACCCCCGCCAGTCGCTCACGCCCACCCACGTCACGGCTGCATGCGCTGTGAGCCGCGGGCACCGGCGGACGCCATCGGACGGGGCGCTGGGGCAGCGGGGGCCGCCCGAGCCCGCGGGCCATGGCCCTG___GCCCTCGTGACCTTCTGGACTTCCCCCGCCTGCCCGACCCCCAGGCCCTGTTCCCAGCCCGCCGCCGGCCCCCTGAGTTCCCAGGCCGCCCCACCACCCTGACCTTTGCCCCGAGACCTCGGCCGGCTGCCAGTCGCCCCCGCTTGGACCCCTGGAAACTGGTCTCCTTCGGCCGGACACTCACCATCTCGCCTCCCAGCAGGCCAGACACTCCGGAGAGCCCTGGGCCCCCCAGCGTGCAGCCCACACTGCTGGACATGGACATGGAGGGGCAGAACCAAGACAGCACAGTGCCCCTGTGCGGGGCCCACGGCTCCCACTAAGGCCTGCCCACCACCGCCCGCCTGGGCAGCCATGAATGTAGCGCCCCAGGCCCTGCCCCAGCCCGCCATGCCACAAGGTGGGGGAGGCCCTGGGCAGGATGTTCACTCTATTTATTGGGGAAGGAGGGAGGGGGGGGACACTTAACTTATTCCTTTGTACCCCAGGGGGTGGAGCCCTGTGCCCACCCTGCACTGGGGGGAGGGTGGGCAGGGATACTCAGGGACAGGGCATCATGGGGGATTTGGCACAAAATGGAGCATTAAAGGTAACCCCTGCCCCCTA)$ . 01BR026 ENSG00000117859.19 ENSG00000078618.21 +/+ -/- chr1:51669512 chr1:51840514 CDS/splice-site CDS/splice-site inversion 3 2 0 81 104 high out-of-frame . PH_domain(100%)|Insulinase_(Peptidase_family_M16)(100%),Middle_or_third_domain_of_peptidase_M16(100%),Peptidase_M16_inactive_domain(100%) . . ENSG00000117859.19 ENSG00000078618.21 ENST00000371714.5 ENST00000544028.5 downstream downstream . ^(ATGATTATAAGCTTCCTGAGGCCTCCCTAGAAGCTGAGCAGATGGCAGAACCATGCTTCCTGTAAATCCTGCAGAATC___AAGAAGGAACTGAGTCTCTAAGATGGAGGATATACAACTGACAAGTAGTAAAGTCAAGATACACAGCCAG___ACAGTGTCTCAGTCTGGCATCCAACTCAGGCTGGAGTGCAGTGACATGATCTTGGCTCACTGCAGTCTTGACCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAG___ATTATAAATAATCTTAATAGCAGTATTCACGTTTGCATTCTCGCATCCGTGGCATGGAGTCCTACACACAATAGGCGCCCTAAGAAAGCGTGTTTGACTTGATCGCTGGAGCATCTGCCGGCACCGCCCAGGACCCGCCCAGGACCCGCCCCGCCCCCTGCGGCCCCGCCCCCCGCATGCTGAATGCCATATAGGCGAGTGACGTCAGGCCGTTTGTTGTCATTGGCGGCTCCCAAGATGGCGTCCATCATGGAAGGGCCGCTGAGCAAATGGACTAAC)GTGATGAAGGGCTGGCAGTACCGTTGGTTCGTGCTGGACTACAATGCAGGACTGCTCTCCTACTACACG___TCCAAGGACAAAATGATGAGAGGCTCTCGCAGAGGATGTGTTAGACTCAGA___GGAGCTGTGATTGGTATAGACGATGAGGACGACAGCACCTTCACAATAACTGTTGATCAGAAAACCTTCCATTTCCAGG|ATACATCAAATTACAGAATGGCTTGCAGGCACTTCTGATTTCAGACCTAAGTAATATGGAAGGTAAAACAGGAAATACAACAGATGATGAAGAAGAAGAGGAGGTGGAGGAAGAAGAAGA---TGATGATGAAGATTCTGGAGCTGAAATAGAAGATGACGATGAAGAG(GGTTTTGATGATGAAGATGAGTTTGATGATGAACATGATGATGATCTTGATACTGAGGATAATGAATTGGAAGAATTAGAAGAGAGAGCAGAAGCTAGAAAAAAAACTACTGAAAAACAG___TCTGCAGCGGCTCTTTGTGTTGGAGTTGGGAGTTTCGCTGATCCAGATGACCTGCCGGGGCTGGCACACTTTTTGGAGCACA___TGGTATTCATGGGTAGTTTGAAATATCCAGATGAGAATGGATTTGATGCCTTCCTGAAGAAGCATGGGGGTAGTGATAATGCCTCAACTGATTGTGAACGCACTGTCTTTCAGTTTGATGTCCAGAGGAAGTACTTCAAGGAAGCTCTTGATAG___ATGGGCGCAGTTCTTCATCCACCCACTAATGATCAGAGATGCAATTGACCGTGAAGTTGAAGCTGTTGATAGTG___AATATCAACTTGCAAGGCCTTCTGATGCAAACAGAAAGGAAATGTTGTTTGGAAGCCTTGCTAGACCTGGACATCCTATGGGAAAATTTTTTTGGG___GAAATGCTGAGACGCTCAAGCATGAGCCAAGAAAGAATAATATTGATACACATGCTAGATTGAGAGAATTCTGGATGCGTTACTACTCTTCTCATTACATGACTTTAGTGGTTCAATCCAAAG___AAACACTGGATACTTTGGAAAAGTGGGTGACTGAAATCTTCTCTCAGATACCAAACAA___TGGGTTACCCAGACCAAACTTTGGCCATTTAACGGATCCATTTGACACACCAGCATTTAACAAACTTTATAGAG___TTGTTCCAATCAGAAAAATTCATGCTCTGACCATCACATGGGCACTTCCTCCTCAACAGCAACATTACAG___GGTGAAGCCACTTCATTATATATCCTGGCTGGTTGGACATGAAGGCAAAGGCAGCATTCTTTCTTTCCTTAGGAAAAA___ATGCTGGGCTCTTGCACTGTTTGGTGGAAATGGTGAGACAGGATTTGAGCAAAATTCTACTTATTCAGTGTTCAGCATTTCTATTACATTGACTGATGAGGGTTATGAACATTTTTATGAG___GTTGCTTACACTGTCTTTCAGTATTTAAAAATGCTGCAGAAGCTAGGCCCAGAAAAAAG___AATTTTTGAAGAGATTCGGAAAATTGAGGATAATGAATTTCATTACCAAGAACAG___ACAGATCCAGTTGAGTATGTGGAAAACATGTGTGAGAACATGCAGCTGTACCCATTGCAGGACATTCTCACTGGAGATCAGCTTCTTTTTGAATACAAGCCAGAA___GTCATTGGTGAAGCCTTGAATCAGCTAGTTCCTCAAAAAGCAAATCTTGTTTTACTGTCTGGTGCTAATGAGGGAAAATGTGACCTCAAGGAGAAATGGTTTGGAACTCAATATAGTATAGAAG___ATATTGAAAACTCTTGGGCTGAACTGTGGAATAGTAATTTCGAATTAAATCCAGATCTTCATCTTCCAGCTGAAAACAAGTACATAG___CCACGGACTTTACGTTGAAGGCTTTCGATTGCCCGGAAACAGAATACCCAGTTAAAATTGTGAATACTCCACAAGGTTGCCTGTGGTATAAGAAAGACAACAAATTCAAAATCCCCAAAG___CATATATACGTTTCCATCTAATTTCACCGTTGATACAGAAATCTGCAGCAAA___TGTGGTCCTCTTTGATATCTTTGTCAATATCCTTACGCATAACCTTGCGGAACCAGCTTATGAAGCAGATGTGGCACAGCTGGAGTATAAACTGGTAGCTGGAGAACATGGTTTAATTATTCGAGTGAAAGGATTTAACCACAAACTACCT___CTACTGTTTCAGCTCATTATTGACTACTTAGCTGAGTTCAATTCCACACCAGCTGTCTTTACAATGATAACTGAGCAGTTGAAGAAGACCTACTTTAACATCCTCATCAAGCCCGAGACTTTGGCCAA___AGATGTACGGCTTTTAATCTTGGAATATGCCCGTTGGTCTATGATTGACAAGTACCAGGCTTTGATGGACGGCCTTTCCCTTGAGTCTCTGCTGAGCTTCGTCAAAGAATTCAAATCCCAGCTCTTTGTGGAGGGCCTGGTACAAGGGAATGTCACAAGCACA___GAATCTATGGATTTCCTGAAATATGTTGTTGA___CAAACTAAACTTCAAGCCTCTGGAGCAGGAGATGCCTGTGCAGTTCCAGGTGGTAGAGCTGCCCAGTGGCCACCATCTATGCAAAGTGAAAGCTCTGAACAAGGGTGATGCCAACTCTGAAGTCACTGTGTACTACCAG___GTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTG___ATGCACATGGAAGAACCTTGTTTTGACTTCCTTCGAACCAAGCAGACCCTTGG___GTACCATGTCTACCCTACCTGTAGGAACACATCCGGGATTCTAGGATTTTCTGTCACTGTGGGGACTCAGGCAACCAAATACAA___TTCTGAAGTTGTTGATAAGAAGATAGAAGAGTTTCTTTCTAGCTTTGAGGAGAAGATTGAGAACCTCACTGAAGAGGCATTCAACACCCAG___GTCACAGCTCTCATCAAGCTGAAGGAGTGTGAGGATACCCACCTTGGGGAGGAGGTGGATAGGAACTGGAATGAAGTGGTTACACAGCAGTACCTCTTTGACCGCCTTGCCCACGAG___ATTGAAGCACTGAAGTCATTCTCAAAATCAGACCTGGTCAACTGGTTCAAGGCCCATAGAGGGCCAGGAAGTAAAATGCTCAGCGTTCAT___GTTGTTGGATATGGGAAGTATGAACTGGAAGAGGATGGTACCCCTTCTAGTGAGGATTCAAATTCTTCTTGTGAAGTGATGCAGCTGACCTACCTGCCAACCTCTCCTCTGCTGGCAGATTGTATCATCCCCATTACTGATATCAGGGCTTTCACAACAACACTCAACCTTCTCCCCTACCATAAAATAGTCAAATAAATAAACTGCAGTCACGTTGGCCTGAAGCAATGTGTATTTT)$ MASIMEGPLSKWTNVMKGWQYRWFVLDYNAGLLSYYTSKDKMMRGSRRGCVRLRGAVIGIDDEDDSTFTITVDQKTFHFQ|dtsnyrmacrhf* 01BR026 ENSG00000117707.16 ENSG00000215817.7(72587),ENSG00000252086.1(76057) +/+ ./- chr1:214011715 chr1:219685732 CDS/splice-site intergenic inversion 1 2 0 12 5 high out-of-frame . . . . ENSG00000117707.16 . ENST00000498508.6 . downstream downstream duplicates(1) ^(GTGTCTTAAAGTAAATCTTGTTGTGGAGCGGAGCCCTCAGCTGAGGGAGCGCTCTGAAATAATACACCATTGCAGCCGGGGAAAGCAGAGCGGCGCAAAAGAGCTCTCGCCGGGTCCGCCTGCTCCCTCTCCGCTTCGCTCCTCTTCTCTTCTTTACCCTTCTCCTCTCTCCTCCTCTGCTGCTCTCTCCTCTCCTCCCGCTCTTCTCTCTCCTCCTCTCCTGCTCTCTCCTCTTCCCTTAGCTCCTCTTCTTTTCTTCTCCTCTTCTTCCCTCTCCTCGCCTCTCCCCTGCTCCTCTTCTCTCGTCTCCCCTCCCCTCCCGCCTCTCTCTCCCCTCTCCCTCTCCCACTCGCCCCGCTCGCTCGCTCGCTGTCGCACAGACTCACCGTCCCTTGTCCAATTATCATATTCATCACCCGCAAGATATCACCGTGTGTGCACTCGCGTGTTTTCCTCTCTCTGCCGGGGGAAAAAAAAGAGAGAGAGAGAGATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGCTCGGTCCCACTGCTCCCTGCACCGC___GGTCCCGGGATTCTTGAGCTGTGCCCAGCTGACGAGCTTTTGAAGATGGCACAATAACCGTCCAGTGATGCCTGACCATGACAGCACAGCCCTCTTAAGCCGGCAAACCAAGAGGAGAAGAGTTGACATTGGAGTGAAAAGGACGGTAGGGACAGCATCTGCATTTTTTGCTAAGGCAAGAGCAACGTTTTTTAGTGCCATGAATCCCCAAGGTTCTGAGCAGGATGTTGAGTATTCAGTGGTGCAGCATGCAGATGGGGAAAAGTCAAATGTACTCCGCAAGCTGCTGAAGAGGGCGAACTCGTATGAAGATGCCATGATGCCTTTTCCAGGAGCAACCATAATTTCCCAGCTGTTGAAAAATAACATGAACAAAAATGGTGGCACGGAGCCCAGTTTCCAAGCCAGCGGTCTCTCTAGTACAGGCTCCGAAGTACATCAGGAGGATATATGCAGCAACTCTTCAAGAGACAGCCCCCCAGAGTGTCTTTCCCCTTTTGGCAGGCCTACTATGAGCCAGTTTGATATGGATCGCTTATGTGATGAGCACCTGAGAGCAAAGCGCGCCCGGGTTGAGAATATAATTCGGGGTATGAGCCATTCCCCCAGTGTGGCATTAAGGGGCAATGAAAATGAAAGAGAGATGGCCCCGCAGTCTGTGAGTCCCCGAGAAAGTTACAGAGAAAACAAACGCAAGCAAAAGCTTCCCCAGCAGCAGCAACAGAGTTTCCAGCAGCTGGTTTCAGCCCGAAAAGAACAGAAGCGAGAGGAGCGCCGACAGCTGAAACAGCAGCTGGAGGACATGCAGAAACAGCTGCGCCAGCTGCAGGAAAAGTTCTACCAAATCTATGACAGCACTGATTCGGAAAATGATGAAGATGGTAACCTGTCTGAAGACAGCATGCGCTCGGAGATCCTGGATGCCAGGGCCCAGGACTCTGTCGGAAGGTCAGATAATGAGATGTGCGAGCTAGACCCAGGACAGTTTATTGACCGAGCTCGAGCCCTGATCAGAGAGCAGGAAATGGCTGAAAACAAGCCGAAGCGAGAAGGCAACAACAAAGAAAGAGACCATGGGCCAAACTCCTTACAACCGGAAGGCAAACATTTGGCTGAGACCTTGAAACAGGAACTGAACACTGCCATGTCGCAAGTTGTGGACACTGTGGTCAAAGTCTTTTCGGCCAAGCCCTCCCGCCAGGTTCCTCAGGTCTTCCCACCTCTCCAGATCCCCCAGGCCAGATTTGCAGTCAATGGGGAAAACCACAATTTCCACACCGCCAACCAGCGCCTGCAGTGCTTTGGCGACGTCATCATTCCGAACCCCCTGGACACCTTTGGCAATGTGCAGATGGCCAGTTCCACTGACCAGACAGAAGCACTGCCCCTGGTTGTCCGCAAAAACTCCTCTGACCAGTCTGCCTCCGGCCCTGCCGCTGGCGGCCACCACCAGCCCCTGCACCAGTCGCCTCTCTCTGCCACCACGGGCTTCACCACGTCCACCTTCCGCCACCCCTTCCCCCTTCCCTTGATGGCCTATCCATTTCAGAGCCCATTAGGTGCTCCCTCCGGCTCCTTCTCTGGAAAAGACAGAGCCTCTCCTGAATCCTTAGACTTAACTAGGGATACCACGAGTCTGAGGACCAAGATGTCATCTCACCACCTGAGCCACCACCCTTGTTCACCAGCACACCCGCCCAGCACCGCCGAAGGGCTCTCCTTGTCGCTCATAAAGTCCGAGTGCGGCGATCTTCAAGATATGTCTGAAATATCACCTTATTCGGGAAGTGCAAT___GCAGGAAGGATTGTCACCCAATCACTTGAAAAAAGCAAAGCTCATGTTTTTTTATACCCGTTATCCCAGCTCCAATATGCTGAAGACCTACTTCTCCGACGTAAAG___TTCAACAGATGCATTACCTCTCAGCTCATCAAGTGGTTTAGCAATTTCCGTGAGTTTTACTACAT)TCAGATGGAGAAGTACGCACGTCAAGCCATCAACGATGGGGTCACCAGTACTGAAGAGCTGTCTATAACCAGAGACTGTGAGCTGTACAGGGCTCTGAACATGCACTACAATAAAGCAAATGACTTTGAG|AACAAAAGTGAAGTGGTGGCAAAGTGCTGGACCAGATGTTAGAAGTCTCCAATTTGCTCTCGACAACAACAATCCACAAGTAACCCTGAGAAAAGTCATCTCTGTTTCCCCACTGGTAAATAATGGTAAGAAAAATAGTGCCTAGTGGGGCTTACGTAGAGGACTG MPDHDSTALLSRQTKRRRVDIGVKRTVGTASAFFAKARATFFSAMNPQGSEQDVEYSVVQHADGEKSNVLRKLLKRANSYEDAMMPFPGATIISQLLKNNMNKNGGTEPSFQASGLSSTGSEVHQEDICSNSSRDSPPECLSPFGRPTMSQFDMDRLCDEHLRAKRARVENIIRGMSHSPSVALRGNENEREMAPQSVSPRESYRENKRKQKLPQQQQQSFQQLVSARKEQKREERRQLKQQLEDMQKQLRQLQEKFYQIYDSTDSENDEDGNLSEDSMRSEILDARAQDSVGRSDNEMCELDPGQFIDRARALIREQEMAENKPKREGNNKERDHGPNSLQPEGKHLAETLKQELNTAMSQVVDTVVKVFSAKPSRQVPQVFPPLQIPQARFAVNGENHNFHTANQRLQCFGDVIIPNPLDTFGNVQMASSTDQTEALPLVVRKNSSDQSASGPAAGGHHQPLHQSPLSATTGFTTSTFRHPFPLPLMAYPFQSPLGAPSGSFSGKDRASPESLDLTRDTTSLRTKMSSHHLSHHPCSPAHPPSTAEGLSLSLIKSECGDLQDMSEISPYSGSAMQEGLSPNHLKKAKLMFFYTRYPSSNMLKTYFSDVKFNRCITSQLIKWFSNFREFYYIQMEKYARQAINDGVTSTEELSITRDCELYRALNMHYNKANDFE|nksevvakcwtrc* 01BR026 ENSG00000115183.15 ENSG00000144283.21 +/+ +/+ chr2:159097834 chr2:158669720 CDS/splice-site CDS/splice-site duplication 2 1 0 51 132 high in-frame . . . . ENSG00000115183.15 ENSG00000144283.21 ENST00000263635.8 ENST00000389757.7 downstream upstream duplicates(1) ^(GGCTTTGCTGTGGCAGCTGCTGGAGCGGCGGCCGCCTCGGGAGCCGGAGGAGAGGCAGCCGCGGAGCGCCGAGCTGGCCTCGCCCCGAGGCCCGGCCCTGGGTGTGGGGAACCGCGCTGAGGAGCTGGAAACTTTCCCGGCAG___GAGCTGACTGCTGGGCAGGAACGTCTCTCAGGAGAAAGAGTGGAAGAGAAAATTGTGAACTAAGGCC)CCCTGCCCCCTTTTCCTGGTGCATGTGAAGTTATCAAAAACAG___AAACAAGTGTTGAAAATGTTAAAGGCTGTGCTGAAGAAGAGCCGAGAGGGAGGAAAGGGAGGCAAGAAGGAAGCAG___GAAGTGACTTTGGTCCAGAGACTTCTCCAGTCCTGCACCTTGACCACAGTGCTGACTCTCCTGTGAGCAGTCTTCCCACAGCAGAGGACACCTATAGGGTGAGCTTGGCCAAAGGTGTCTCGATGTCTCTGCCTTCCTCACCTTTGCTGCCTCGACAGTCTCACTTGGTGCAATCAAGAGTGAACAAAAAATCCCCAG|GCAAATACGCCATGCGAGACCTGGTCAACCGGCTCCCCGGCGGCAATGGCCCCAGTGTCTTGTCTGATGAGACCATGGCAGCCATCTGCTGTGCTCTGCACGAGGTCACCAG(CAAAAACATGGAGAACGCAAAAGCCCTGGCCGACTCAGGAGGCATAGAGAAGCTGGTGAACATAACCAAAGGCAGGGGCGACAG___ATCATCTCTGAAAGTGGTGAAGGCAGCAGCCCAGGTCTTGAATACATTATGGCAATATCGGGACCTCCGGAGCATTTATAAAAAG___GATGGGTGGAATCAGAACCATTTTATTACACCTGTGTCGACATTGGAGCGAGACCGATTCAAATCACATCCTTCCTTGTCTACCACCAACCAACAGATGTCACCCATCATTCAGTCAG___GCTCCAGCAAACCTTCACCAATTTACATCAGTTCCTATTCCTCACCAGCAAGAGAACAAAATAGACGGCTACAG___CATCAACAGCTGTATTATAGTCAAGATGACTCCAACAGAAAGAACTTTGATGCATACAGATTGTATTTGCAGTCTCCTCATAGCTATGAAGATCCTTATTTTGATGACCGAGTTCACTTTCCAGCTTCTACTGATTACTCAACACAGTATGGACTGAAATCGACCACAAATTATGTAGACTTTTATTCCACTAAACGACCTTCTTATAGAGCAGAACAGTACCCAGGGTCCCCAGACTCATGGGTGTAGCATCAAGATGCCCAACAGAGGAACTCTTTCTTTCTAACCTTGTTCAGATTGAGGTGAAAAGTCCATCTTGCTGATTTGATGATTGAAATGTGAAAGTGAAGTGGAAGGAATGAATGAAGTGTGTTTTTTTTTTCTTTTTTGAGGAATTATCAGGGAAGTGAGGAAATGTTTGGGAGAGGACTTTCTAAGCTCTATTTAGGTGTTAGATCTAATTACTTATAGATTCTGTAGTCTGGTGAAGGTGTGGGTGACGTGATGAGAGGTTTGAGAAATGGGTGAAATGAAATGGGGGATATGTAGGTCAAATCAAATTAAAGATGATTTTTTTAATGTGAATAAAGTTATGTTCTGATAGTTTGTACAGAAAAAATAAAATGGATGCCCATGTTTTATTGCTATTACTAAATGTCAAGATTGTATGCTATTATGTCTTGTAAATTTCTTTTGTTGGTGTAAATATGGAAATGCCACATTGGTTAAGTGCCATCATTTGTAATGCAATGTGTCACTTGAAAAGAGATTTGAAGAAACTGACAACTTCAAAAACAAATGAGAAGCCCAAGGAACTGTGAGCAATTAAAAGCAAACCGCGACACCCTTTGTCTCCACCACACATAGTGTACTTTGGAAGCACAACGTCCAGGCTGGTACCGCAGCGCCATGCCCATTCCTCGCCTCATTCATAGGACACTTCACTGCCATTTTCTATTCACATAAAAGAAAAATAAATGTGGAAATTTCATCCTTGGAAATGTGTTCTCTATTCTTTTTAAATTTTCTGTATGTATATGGAAAAGCAGATTTAATAAACACAAATCTAACTGCATGTTGGAAACAGCTTAAATATATCCAACTATTTTGGACTTTTCCTAGTTTTATATATACTTTGTGAGATGGACCACACCAAAGAATTAAGCTATGAACTTTCCTTCTCTGACAATCTAGGTATTTTTATTTCTTGGAATCTATTTCAAATCTAGTACCCTTCACAGTTTTATCATGTTTTTCTATATGGCAGCCCGGCCATAACTAAATTGATATAACTAAATTGATACCTTTTTTAGGCATCATTTTTAAGAACTCAGTAACTTCATAAGAACAGTGGTTGGGCATTTATTTGGTTGGCACCAATATAATAAAACAAATTCTAAATTATGATCTTGTTGAGTAATTCCTGGATTAGGAATGGGGTAGGGGAAAGAAGCCCCACAGTAGGGTAGGCAGAGGTCCCCATAGCACCACACAGCATTACTTGGGAGCTTTTCTCCATCTGTGGAGGCAATGAGGGACACCAGGCCCAAAGTCTGAGGCCTTCTCAGGTCTTGCAGTTTCCACCCTTCAGTCCTAGCTCCTGGATCTTTGTTGGTGTAAATATGGAAATGCCACATTGGTTAAGTGCCATCATGGAAAACTAGGAACTAGTTTACCTGTAGCTGTACTAGGAAAACTAGGAACTAACGCCCATGGCAAGTCAAACCCAGAAGTGTTGTCTTAGCTCAATATACCCTGCAAGTGTAATACAAATCGCAGATTAAAACATTTGTACTTATATTTGTGAGTATATGGAAAGACACCCAAGAGAAAACTGCGTTTTCTTGCCGAATGGACAGCAGCCCAAGATGAGCATCCAAAGTGAAATGGAAATACCAGTGCGAGCATGAAAGTTCCTAAGATCTGCAAGCCGGGAGCCCTTCTGGGGTGCCTTCTGAAGAACACTCGAGCCAGCTTGCGGAGTCGACTGCCCAGCTACTGAGCCCTGGCTGCCTCATACCTGGCGGAGCTCAGCAGACAGCCCTTGTTAGATGGCAGAGGTCGCCAGATGTTCCTGAGGAACTGGCATCAGGACTTCTGGGACGTAACCACTTCAGTTTCCAATCACTGACTTCCCTGAACCTGGTATCTTCAGATCTGGGTTGAAGCTGAAGGCTCAGTTGGGGAATCAGGAAAACAAGGGAATCGGAGCCAGCCCAAGCCAACTGACAATAACTTTCTTTTAGTGACTGCATTAGTTTGGGGTAATGCTGTAACAGGCAGCATTTCAAAAACGGATCCAAATTTGGGTTGAAAATAACTCACCTGGGTCTCCAATCAGACCTAACAGAGCCAGAAAGAGGCCTGTACACGGGGACTGGGCAGAAGATCTAATGCCGTTTAAGACTCCTCCCTTGAGACCAGAGAAAAGAAACTGCAGACACAGCCTGA)$ MLKAVLKKSREGGKGGKKEAGSDFGPETSPVLHLDHSADSPVSSLPTAEDTYRVSLAKGVSMSLPSSPLLPRQSHLVQSRVNKKSP|gKYAMRDLVNRLPGGNGPSVLSDETMAAICCALHEVTSKNMENAKALADSGGIEKLVNITKGRGDRSSLKVVKAAAQVLNTLWQYRDLRSIYKKDGWNQNHFITPVSTLERDRFKSHPSLSTTNQQMSPIIQSGSSKPSPIYISSYSSPAREQNRRLQHQQLYYSQDDSNRKNFDAYRLYLQSPHSYEDPYFDDRVHFPASTDYSTQYGLKSTTNYVDFYSTKRPSYRAEQYPGSPDSWV* 01BR026 ENSG00000135829.17 ENSG00000271269.1(25259),ENSG00000135838.13(29411) +/+ ./+ chr1:182839456 chr1:182760038 5'UTR/splice-site intergenic duplication 0 12 0 116 37 medium . . . . . ENSG00000135829.17 . ENST00000367549.4 . downstream upstream duplicates(3) ^(GCCATTTCGCCGATTCCT)CCATGCGAGTTGCTGTGCGTTTCTCTGTTGTCTCGGTAGAAGGCCAGAGTCACACACGGTCCTAAGAGCTGGGCACCAGGAAGCGAAGGCTG|AGATGAATTCCCGAGAAGGTGCTGTGACTTCTGTTCCAGCATATTGGTTTAGAAAGAAAAGCTTCAGAGTCTGATTTTGAGACCTGGATTTGGCCTCTGGCTCTGCCACTTTCCACCTATGTGATCTCTCCGAGCCTCAATTTTATCATCCATAAA___GA?CTTGCTTATGAGCACACCTCTGACTGAGGTCCACAGGACTCAAGATTCCTCCAGCCATCACTCTCCACTACAAATGCCACAAAAATGAAAATTTGAC...___ATTACAAGCACCAGGGTGTCAGGGACGCTGTCTGGTCCTGCTTTGCCATTC . 01BR026 ENSG00000237296.9 ENSG00000243716.10 +/+ +/+ chr16:22491786 chr16:22513522 exon 5'UTR deletion/read-through 5 6 0 60 171 medium . . |Nuclear_pore_complex_interacting_protein_(NPIP)(100%) . . ENSG00000237296.9 ENSG00000243716.10 ENST00000309865.11 ENST00000517539.5 downstream upstream duplicates(2),mismatches(1),multimappers(1) ^(ATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCGGCGGCGGCGGCACCAACGGCACCAACTATTCGCGGAGCTGGAATGACTGGCAACCCAG___AACTGATAGTGCATCAGCCGACCCAGGTAATTTAAAATATTCTTCATCCAGAGATAGAGGTGGTTCTTCCTCTTACGGACTGCAACCTTCAAATTCAGCTGTGGTGTCTCGGCAAAGGCACGATGATACCAGAGTCCACGCTGACATACAGAATGACGAAAAGG___GTGGCTACGGTGTCAATGGGGGATCTGGGGAAAATACTTATGGTCGGAAGTCATTGGGGCAAGAGCTGAGGGTTAACAATGTGACCAGCCCTGAGTTCACCAGTGTTCAGCATGGCAGTTGTGCTTTAGCCACCAAAGACATGAGGAAATCACAGG___AGAGATCGATGTCTTATTGTGATGAGTCTCGACTGTCATATCTTCTTCGGAGGATCACCCGGGAAAACGACCGAGACCGAAGATTGGCTACTGTAAAGCAGTTGAAAGAATTTATTCAGCAACCAGAAAATAAGCTG___GTACTAGTTAAACAATTGGATATCTTGGCTGCTGTACATGATGTGCTTAATGAAAG___TAGCAAATTGCTTCAGGAGTTGAGACAGGAGGGAGCTTGCTGTCTCGGCCTTCTTTGTGCTTCTCTGAGCTATGAGGCTGAGAAGATCTTCAAGTGGATTTTTAGCAAATTTAGCTCATCTGCAAAAGATGAAGTTAAACTCCTCTACTTATGTGCCACCTACAAAGCACTAGAGACTGTAGGAGAAAAGAAAGCCTTTTCATCTGTAATGCAG___CTTGTAATGACCAGCCTGCAGTCAATTCTTGAAAATGTGGATACACCAGAATTGCTTTGCAAATGTGTTAAGTGCATTCTTTTGGTGGCTCGATGTTACCCTCATATTTTCAGCACTAATTTTAGG___GATACAGTTGGTATATTAGTTGGATGGCATAGAGATCATACTCAGAAACCTTCGCTCACGCAGCAGGTATCTG___GGTGGTTGCAGAGTTTGGAGCCATTTTGGGTAGCTGATCTTGCATTTTCTACGCCTCTACTTGGTCAGTTTCTAGAAGACATGGAAGCATATGCTGAG___GACCTCAGCCATGTGGCCGCTGGGGAATCAGTGGATGAAGACGTCCCTCCTCCATCAGTGTCATTACCAAAGCTGGCTGCGCTTCTCCGGGTATTTAGTACTGTGGTGAGGAGCACTGGGGAAAGCCTCAGCCCAATTCGGGCCCTCCAATTACTGAGGCATACGTAACAGAT___GTTCTGTACAGAGTAATGAGATGTGTGACGGCTGCAAACCAGGTGTTTTTTTCTGAGGCTGTGTTGACAGCTGCTAATGAGCGTGTTGGTGTTTTGCTCGGCAGCTTGGATCCTAGCATGACTATACATTGTGACATGGTCATTACATATGGATTAGACCAACTGGAGAATTGCCAGACTTGTGGTACCGATTATATCATCTCAGTCTTGAATTTACTCACGCTG___ATTGTTGAACAGATAAATACGAAACTGCCATCATCATTTGTAGAAAAACTGTTTATACCATCATCTAAACTACTATTCTTGCGTTATCATAAAGAAAAAGAG___GTTGTTGCTGTAGCCCGTGCTGTTTATCAAGCAGTGCTCAGCTTGAAGAATATTCCTGTTTTGGAGACTGCCTATAAGTTAATATTGGGAGAAATGACTTGTGCCCTAAACAACCTCCTGCACAGTCTGCAGCTTCCTGAGTCCTGTTCTGAAATAAAACATGAGGCTTTTAAGAATCATGTGTTCAATGTAGACAATGCAAAATTTGTAGTTAAATTTGACCTCAGTGCCCTGACTACAATTGGAAATGCCAAAAACTCACTAATAGGG___ATGTGGGCGCTATCTCCAACTGTCTTTGCACTTCTGAGTAAGAATCTGATGATTGTGCACAGTGACCTGGCTGTTCACTTCCCTGCCATTCAGTATGCTGTGCTCTACACATTGTATCCTCATTGTACCAG___GCATGATCACTTTATCTTTAGTAGCCTCAGTTCTTCCTCTCCTTCTTTGTTTGATGGAGCTGTGATTGGCACTGTAACTATGGCCACAAAGAAACATTTCTCAATTATATTAAATCTTCTGGGAATGTTACTTAAGAAAGATAACCAGGACACGAG___GAAACTGTTAATGACTTGGGCTTTGGAAGTAGCTGTTGTAATGAAGAAGTCCGAAACATATGCACCTTTATTCTGTCTTCCGTCTTTCCATAAATTTTGCAAAGGCCTTTTAGCCGACA___CTCTCGTTGAAGATGTGAATATCTGTCTGCAGGCATGCAGCAGTCTACATGCTCTATCCTCTTCCTTGCCAGATGATCTTTTACAGAG___ATGTGTTGATGTTTGCCGTGTCCAACTAGTGCACCGTGGAACTTGTATTCGACAAGCATTTGGAAAACTGTTGAAATCAATTCCTTTAGGTGTTTTCCTAAG___CGATAACAATCACACAGAAATTCAAGAAATTTCTTTAGCATTAAGAAGTCACATGAGTAAAGCACCAAGTAATACATTCCACCCCCAAGATTTCTCTGATGTTATTAGTTTTATTTTGTATGGGAACTCTCATAGAACAGG___GAAGGACAATTGGTTGGAAAGACTGTTCTATAGCTGCCAGAGACTGGATAAGCGTGACCAGTCAACAATTCCACGCAATCTCCTGAAGACAGATGCTATCCTTTGGCAGTGGGCCATATGGGAAGCTGCACAATTCACTGTTCTTTCTAAGCTGAGAACCCCACTGGGCAGAGCTCAAGACACCTTCCAGACAATTGAAG___GTATCATTCGAAGTCTCGCAGGTCACACATTAAACCCTGATCAGGATGTTAGTCAGTGGACAACTGCAGACAGTGATGAAGGCCATGGTAACAACCAACTTAGACTTGTTCTTCTTCTGCAGTATCTGGAAAATCTGGAGAAATTAATGTATAATGCATACGAGGGATGTGCTAATGCCTTAACTTCACCTCCCAAG___GTCATTAGAACTTTTTTGTATACCAATCGCCAAACTTGTCAGGACTGGCTAACGCGGATTCGACTCTCCATCATGAGGGTAGGATTGTTGGCAGGCCAGCCTGCAGTGACAGTGAGACATGGCTTTGACTTGCTTACAGAGATGAAAACAACCAGCCTATCTCAG___GGGAATGAATTGGAAGTAAGCATTATGATGGTGGTAGAAGCACTATGTGAACTTCATTGTCCTGAAGCTATACAGGGAATTGCTGTCTGGTCATCATCTATTGTTGGAAAACATCTTCTGTGGATTAACTCAGTGGCTCAACAGGCTGAAGGGAG___GTTTGAAAAGGCCTCTGTGGAGTACCAGGAACACCTGTGTGCCATGACAGGTGTTGATTGCTGCATCTCCAGCTTTGACAAATCGGTGCTCACCTTAGCCAGTGCTGGGTGTAAGAGTGCCAGCCTGAAACATTGTCTGAATG___GTGAATCCAGAAAAAGTGTGCTGTCCAAACCGACTGACTCTTCCCCTGAGGTTATAAATTATTTAGGAAACAAAGCATGTGAGTGCTACATCTCAACTGCCGATTGGGCTGCTGTGCAGGAATGGCAGAACGCTATCCATGACTTGAAAAAGAGTACCAGTAGCACTTCCCTCAACCTGAAAGCTGACTTCAACTATATAAA___ATCATTAAGCAGCTTTGAGTCTGGAAAATTTGTCGAATGTACCGAGCAATTAGAATTGTTACCAGGAGAAAATATCAATCTACTTGCTGGAGGATCAAAAGAAAAAATAG___ACATGAAAAAACTGCTTCGTAACATGTGAAGTCCAGATCCAAGGGAACCTCAGAAATCCATTGAAGTTCCATTGTTAAGAAGTTCTGTTTGTTTGGCAACTGCTTTAAACCCGATAGAACAAGATCAGAAGTGGCAGTCTATAACTGA___AAATGTG)GTAAAGTACTTGAAGCAAACATCCCGCATCGCTATTGGACCTCTGAGACTTTCTACTTTAACAGTTTCACAGTCTTTGCCAGTTCTAAGTACCTTGCAGCTGTATTGCTCGTCTGCTTTGGAGACCACAGTTTCTAACAGACTTTCAACAGAG___GACTGTCTTATTCCACTCTTCGGCGAAGCTTTACGTTCATGTAAACAGCATGACGTGAGGCCGTGGATGCAGGCATTAAG|GTATGATCTCGTGAAATCTTGAGAGAAACTGAATGACGAATGAAACTATTGTTCCTGTTTCACACAGAAGAAAACTGAGGTTAAAAGGG___GTTGGCACTCATCATGAGCCCCTGTTCTCATTCTGCAAATGGTGAAGCTCTCTATTGTCCTG(ACCCCACAGTTCCTGTCCCATGACCAGGGCCAGCTCACCAAGGAGCTGCAGCAGCATGTAAAGTCAGTGACATGCCCATGCGAGTACCTGAGGAAG___GTTATCAATACTCTGGCTGACCATCATCATCGTGGGACTGACTTTGGTGGAAGTCCTTGGTTACATGTCATTATTGCGTTTCCGACAAGTTATAAAGTTGTCATTACCCTCTGGATAGTTTACCTTTGG___GTGTCTCTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATGGATCCACGGATGTACAGCAGAGAGCCTGGAGGTCCAACCGCCGTAGACAGGAAG___GGCTGAGGTCCATTTGTATGCACACAAAGAAAAGAGTTTCTTCCTTTCGAGGAAATAAAATTGGCCTGAAAGACGTCATTACTCTACGGAGACATGTGGAAACAAAAGTTAGAGCTAAAATCCGTAAGAGGAAGGTGACAACGAAAATCAACCATCATGACAAAATCAATGGAAAGAGGAAGACCGCCAGAAAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGCGGCGAGCAGAGGACTACCACAAATGCAAA___ATCCCCCCTTCTGCAAGAAAGGCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCACCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTGTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTGTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCTGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCTACCCTCAGCTCCACCCTCAGCGGATGATAATCTCAAGACACGTGCCGAGTGTCTGCTCCATCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCTGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTGCCCTTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCTTCCACCCTCAGCGGATGATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGATACCTGCTGAGCGTCTGCGGATTCCGCTTCCACCATCAGCCGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTGAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCAGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCAGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCTTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCCGATGATAATCTCAAGACACCTCCCTTAGCTACTCAGGAGGCTGAGGCAGAAAAACCACGCAAACCCAAGAGGCAGAGGGCGGCTGAGATGGAACCACCTCCCGAACCCAAGAGGCGGAGGGTCGGTGACGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATCACCCGAACCCAAGAGGCGGAGGGTCGGTGATGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATCACCCGAACCCAAGAGGCGGAGGGTCGGTGACGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATTACCCGAACCCAAGAGGCGGAGGTTGAGCTGAGAAGAGGCCAGTGCACTCAAGCCTGAGCAATAAGAATAAAACCGAGTAGAACAAAATAAAAAATTCAAAAAACAAAACAAAACCCACACTCC)$ . 01BR026 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 2 7 1 44 13 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1),mismatches(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCT)GTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGcGCCCGGCAGTCCTGACCTGGCAAGGCAgTACAAgTCTgGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTG___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGaPGSPDLARqYKSgSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvdsrplpdvaltgkctrecd 01BR026 ENSG00000135829.17 ENSG00000271269.1(8232),ENSG00000135838.13(46438) +/+ ./+ chr1:182839456 chr1:182743011 5'UTR/splice-site intergenic duplication 1 4 0 116 7 medium . . . . . ENSG00000135829.17 . ENST00000367549.4 . downstream upstream . ^(GCCATTTCGCC)GATTCCTCCATGCGAGTTGCTGTGCGTTTCTCTGTTGTCTCGGTAGAAGGCCAGAGTCACACACGGTCCTAAGAGCTGGGCACCAGGAAGCGAAGGCTG|CAGAATCCTGGAAAACTATGTAAACACCCACAGGCCTTGGAAGATGTTAGTGTCAATCTACTGGGAAGATGACCCCTGAAGACCCTGTAATCCTCATCATTCTGTGATTCAAAGGGAAAAGCAATATGGCCATGTGAGTCAGTACAAAGAGCATGGGATTTGGAATGAGAAGACCTGAACTTCAGTCCTGGCTTGGCTATCCACTCACTTTGTGACCTCAAAGAAGTTGAATGAACATGTATTGAGCCTATGTCTTGCAGCAAGTACTGACTTAGGATTTGAGGAAATAAGATCACCAGACTTGGGAC . 01BR026 ENSG00000026508.19 ENSG00000166016.6 +/+ -/+ chr11:35180407 chr11:34299681 CDS/splice-site intron duplication/5'-5' 2 2 0 600 6 medium out-of-frame . Extracellular_link_domain(100%)| . . ENSG00000026508.19 ENSG00000166016.6 ENST00000263398.10 . downstream upstream mismatches(1) ^(GAGAAGAAAGCCAGTGCGTCTCTGGGCGCAGGGGCCAGTGGGGCTCGGAGGCACAGGCACCCCGCGACACTCCAGGTTCCCCGACCCACGTCCCTGGCAGCCCCGATTATTTACAGCCTCAGCAGAGCACGGGGCGGGGGCAGAGGGGCCCGCCCGGGAGGGCTGCTACTTCTTAAAACCTCTGCGGGCTGCTTAGTCACAGCCCCCCTTGCTTGGGTGTGTCCTTCGCTCGCTCCCTCCCTCCGTCTTAGGTCACTGTTTTCAACCTCGAATAAAAACTGCAGCCAACTTCCGAGGCAGCCTCATTGCCCAGCGGACCCCAGCCTCTGCCAGGTTCGGTCCGCCATCCTCGTCCCGTCCTCCGCCGGCCCCTGCCCCGCGCCCAGGGATCCTCCAGCTCCTTTCGCCCGCGCCCTCCGTTCGCTCCGGACACCATGGACAAGTTTTGGTGGCACGCAGCCTGGGGACTCTGCCTCGTGCCGCTGAGCCTGGCGCAGATCG___ATTTGAATATAACCTGCCGCTTTGCAGGTGTATTCCACGTGGAGA)AAAATGGTCGCTACAGCATCTCTCGGACGGAGGCCGCTGACCTCTGCAAGGCTTTCAATAGCACCTTGCCCACAATGGCCCAGATGGAGAAAGCTCTGAGCATCGGATTTGAGACCTGCAG___GTATGGGTTCATAGAAGGGCACGTGGTGATTCCCCGGATCCACCCCAACTCCATCTGTGCAGCAAACAACACAGGGGTGTACATCCTCACATCCAACACCTCCCAGTATGACACATATTGCTTCAATGCTTCAG|GCTCAACTGACAGCAACTACTCTCGGGGCCCTCATAGCCAAGGCATTTGGAGTTTGCTCATCTGGGGCTCCCAATCTGCACTCCTCTTACATTAGAAATAAGAGGGCTACAAAGCCAGAAGCAGCGGGTGAGCCGGAAAGGAGCAGAGTGTTGCCTGGGCTGGCAGCCTTGCTCCACCACTTAGCAGCTCTCAGAATGGG...CCAGTTTCATCTCCaTAAAATGGGAATAACACTGCTGCCTCCTTCATAAAGGCACACAGAGGACTGAATGAGTCAAGAATAAAGTAGTTAGCACAGTGCCTGGCACAGAGTCAGAGCTCTCTGCCTCCTACGCTTGGTGGGGGGAAGATG MDKFWWHAAWGLCLVPLSLAQIDLNITCRFAGVFHVEKNGRYSISRTEAADLCKAFNSTLPTMAQMEKALSIGFETCRYGFIEGHVVIPRIHPNSICAANNTGVYILTSNTSQYDTYCFNAS|gstdsnysrgphsqgiwslliwgsqsalllh* 01BR026 ENSG00000160117.16 ENSG00000099331.13 +/+ +/+ chr19:17284121 chr19:17142043 CDS intron duplication 2 2 0 17 8 medium out-of-frame . Ankyrin_repeats_(3_copies)(100%),LEM_domain(100%)|IQ_calmodulin-binding_motif(100%),Myosin_head_(motor_domain)(100%),RhoGAP_domain(100%) . . ENSG00000160117.16 ENSG00000099331.13 ENST00000394458.7 . downstream upstream . ^(AGTGGCACACCCGGTGGCATCCTCCCACCCGGGCTCTTATCGGCGGTCCCAGACCCTGCTTGAGCGCCTCCGGGTGTCAAGGGCCCCTGAGGACACTAAAGCTCTCGAACCCCGATGTGGACCCCCGTGCGGCGCGGGGCAGCCTGGCTGGGAACCCTGCTCGGCCCTGGAGAGGGGCCCCCCGAGCCGAGGGGAGGAGCGGCGCATGCCCACAAGCCCCCCGCGGGAAGTAGGAAATCGACCGACCAGGCGGTGCGCTTCGGACCCAGCCAGGGCATGTGCTCGGAGGCCCGCCTGGCTCGCAGGTTGCGGGATGCGCTGCGGGAGGAGGAGCCGTG___GGCAGTAGAGGAGCTGCTGCGCTGCGGCGCGGACCCTAATTTGGTGCTAGAGGACGGCGCAGCGGCTGTGCACTTGGCGGCCGGAGCCCGGCACCCGCGCGGCCTGCGTTGCCTCGGGGCCCTACTGCGCCAAGGCGGGGACCCCAACGCTCG___ATCTGTCGAGGCACTGACGCCGCTGCATGTGGCCGCCGCGTGGGGCTGCCGCCGCGGCCTGGAGCTGCTGCTGAGCCAAGGAGCGGACCCGGCGCTGCGCGACCAG___GACGGACTCCGGCCGCTGGACCTGGCCCTGCAGCAGGGACACCTGGAGTGCGCGCGAGTCCTGCAGGATCTCGACACGCGGACCAGGACCCGGACCCGGATCGGGGCAGAGACTCAGGAGCCCGAGCCTGCACCTGGCA___CCCCAGGCCTCTCTGGACCTACCGATGAGACGCTGGACTCCATAGCACTCCAAAAGCAGCCATGCAGAGGTGACAACAGGGACATTGGCTTGGAGGCTGACCCAGGACCCCCCAGCCTCCCTGTTCCCCTTGAAACTGTGGACAAACATGGGAGCTCGGCGTCCCCTCCAGGGCACTGGGATTACAGCTCAGACGCCTCTTTCGTCACAGCGGTTGAGGTCTCTGGAGCTGAGGACCCAGCCTCGGACACTCCCCCCTGGGCTGGGTCATTGCCACCGACCAGGCAGGGACTTCTGCATGTTGTCCATGCCAACCAGAGGGTACCTAGGTCTCAGGGCACGGAGGCAGAACTGAATGCCCGTCTGCAGGCCCTGACTCTGACCCCACCAAATGCTGCTGGCTTCCAGTCCTCCCCTTCCTCCATGCCTCTCCTGGACAGGAGTCCAGCTCATAGCCCCCCACGGACACCAACCCCTGGAGCTTCTGACTGCCACTGCCTGTGGGAGCACCAGACATCCATTGATAGTGACATGGCCACGCTCTGGCTGACAGAGGATGAGGCAAGCTCTACAGGTGGCAGGGAACCTGTCGGCCCTTGCCGGCACCTGCCAGTCTCCACTGTGTCTGACTTGGAGTTGCTGAAGGGACTCCGAGCACTTGGTGAGAATCCTCACCCCATCACACCCTTCACCAGGCAGTTGTACCACCAGCAGCTGGAAGAAGCCCAGATTGCTCCTG___)GCCCAGAGTTTTCAGGGCACAGCCTAGAACTGG|TGGCATGCACCTGTGGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCACGAGGTCGAGGCTTGCAGTGAGCTATGATTACACCACTGGGCGACAGCAAGACCCTGCCTcTTAAAAAAAAA-----AAAGAAAAAAGAAGCGGCAACCAGACACAACAGGC MWTPVRRGAAWLGTLLGPGEGPPEPRGGAAHAHKPPAGSRKSTDQAVRFGPSQGMCSEARLARRLRDALREEEPWAVEELLRCGADPNLVLEDGAAAVHLAAGARHPRGLRCLGALLRQGGDPNARSVEALTPLHVAAAWGCRRGLELLLSQGADPALRDQDGLRPLDLALQQGHLECARVLQDLDTRTRTRTRIGAETQEPEPAPGTPGLSGPTDETLDSIALQKQPCRGDNRDIGLEADPGPPSLPVPLETVDKHGSSASPPGHWDYSSDASFVTAVEVSGAEDPASDTPPWAGSLPPTRQGLLHVVHANQRVPRSQGTEAELNARLQALTLTPPNAAGFQSSPSSMPLLDRSPAHSPPRTPTPGASDCHCLWEHQTSIDSDMATLWLTEDEASSTGGREPVGPCRHLPVSTVSDLELLKGLRALGENPHPITPFTRQLYHQQLEEAQIAPGPEFSGHSLEL|vactcgpsylgg* 01BR026 ENSG00000104361.10 ENSG00000104375.17 -/- -/- chr8:98212405 chr8:98526917 CDS/splice-site CDS/splice-site duplication 0 3 0 64 108 medium in-frame . Magnesium_transporter_NIPA(100%)|C_terminal_SARAH_domain_of_Mst1(100%) . . ENSG00000104361.10 ENSG00000104375.17 ENST00000341166.3 ENST00000523601.5 upstream downstream . ^(AGCTGGACGGCCCCGGGAGGCCGCAGACCGCCGGGCTCCCCGAGGACACCTCGCACCGGAGGAGGAGAGGAGGCAGCGCCCGGCCAGGCTGGGAGCACCTACGGCCGCGCGGGGGCGGGAGCCAGGTGGCCTCGGCGCGCCCGCCTCGCCCGGGCACCGAGCAGGAAGTGGCTGCGGCGCGGCCTCCTCGCGGTGCAACAGGGCGGGGAGGCGGCCGCAGCCCGAGCCGGAGCCCGAGCGCCGGGAGCGAGACCTCATGGCAGCGGTGGCGCCCGCGGGCCCCGGGGACTCCGCCTCGGCCGCCCTGGACGAGCTGTCACTGAATTTCACGTACGGGGCACCAGGCGCCGGCAACGGCTCCCTCTCGGGCGACTGGTACCGCAGGAACCAG___ATTCACCTTTTTGGAGTTTTGCTGGCTATTTTAGGAAACTTGGTGATCAGTATTTCTCTAAATATTCAG___AAATATTCTCACCTTCAGCTGGCACAACAAGAGCACCCAAGGCCATACTTCAAGAGTGTGCTGTGGTGGGGTGGTGTCCTGCTGATGGCCGTGGGAGAGACGGGGAACTTTGCAGCCTATGGATTTGCTCCCATTACTCTGATCGCTCCGTTAGGCTGTGTGTCTGTTACAG___GTAGTGCCATTATTTCTGTTACATTTCTGAAAGACAATTTGAGAGCCTCAGACTTACTCG___GTACGACACTGGCATTTGCAGGAACATATTTACTGGTGAACTTTGCTCCAAATATAACTCAGGCAATCTCAGCAAGAACAGTACAGTATTACCTTGTCGGATGGCAGTTCCTGATCTATGTG___)ATTTTAGAAATATTAATTTTCTGCATTCTCCTGTATTTCTATAAAAGAAAAGGAATGAAGCATATGGTGATTCTGCTAACCCTGGTGGCAATTCTAG|GAAATGCAACCTCACCACAAGTACAAAGACCATCTTTCATGGACTACTTTGATAAGCAAGACTTCAAGAATAAGAGTCACGAAAACTGTAATCAGAACATGCATGAACCCTTCCCTATGTCCAAAAACGTTTTTCCTGATAACTGGAAAGTTCCTCAAGATGGAG(ACTTTGACTTT___TTGAAAAATCTAAGTTTAGAAGAACTACAGATGCGGTTAAAAGCACTGGACCCCATGATGGAACGGGAGATAGAAGAACTTCGTCAGAGATACACTGCGAAAAGACAGCCCATTCTGGATGCGATGGATGCAAAGAAAAGAAGGCAGCAAAACTTTTGAGTCTAATTTCCTCTCTGTTTTTAACTATTCTGGAGACCAAGAAACCACTAGGAATTGAAGGAATATTTGGATATTTTTAATCCTAAGATTTTGCCCTACAATTAGGCAGAGGTCAAAAAGTGACAATGGTACATGCCCAGGTAAATTCCCAAAAGGCAGAATTGACAGTTGTATCTGCTGTGCATTCACTCTAAGATGAGGAGAACAAAAGAAGTGTATTCTCTTGTTCTGTCAGCTGCATACCAGTAATAAAACTGTTATGAAATGGATTTTCAAGGTCTCTAAACCTTGAAAATCCAAAGCTATTGTTGCATTGTACAGCACTGAAGGGCTTTATGTTACAATATTCTTTATTCCTATCTAGTATACTAGGCTATTTATTGTATCCCCTTAGGTAAACTTATTTATTTATGCTATTTTGCTTTGTTTCATTTTTTAAGGACAAGATCAGGATAGCTTTGGTGAAGGTAGGGTCATATTAATATGATGATAATGTGCAACCAATTTATACTTTCTGCAGGGAGCTATGGGGTACATTCCTTGATTTCCAGGATAGTTTTTCAAATAGGAAAGCAATAATGGCAGTAGTTCTCAAATGGGCTAGGCCTTTTTTATATTGAAGCAATAATTCCATTTTTACCCTTTGAAATTTTGTTTTTTTGATTTTTGATGTTTGGTACAAATAGAACTATATATATTTAGGTAAAATAGATCTATCGTGTTTAAAACCAAAGAAATCAATGGAACCCTTGCACAAAAAAGTGTGATAAATATTTTTAAATAAAAACTTAATACAAATGTAATTTGTTAATATTGTTTCATGTTTTATGTGTAGATCTAATAGCTGAACTGATTCAAACTGTAATAAGCTCATCAATTTCATTTCTATGAAAATGTGCTCTGTTGTCACAGGATGTTTCTGTTGATTTTATTCATTTCCTGGGAATTGGTAAACATCATGTTCCTGATGATAACCCAGTAGCAAAAACATTTGTACTGAGTGGTACAAGCCTTGGGGACTGAAAAAAAAAAGATTAAAACCATTAAAAAGAAACTCATTTTTACGCTGAATGAACATTTATATGATTGCATTGGGACCAGTCATTTCCTAAGCTACATATGGCCATCTTGACAGTGTTTTTTCTTT)$ MAAVAPAGPGDSASAALDELSLNFTYGAPGAGNGSLSGDWYRRNQIHLFGVLLAILGNLVISISLNIQKYSHLQLAQQEHPRPYFKSVLWWGGVLLMAVGETGNFAAYGFAPITLIAPLGCVSVTGSAIISVTFLKDNLRASDLLGTTLAFAGTYLLVNFAPNITQAISARTVQYYLVGWQFLIYVILEILIFCILLYFYKRKGMKHMVILLTLVAIL|gNATSPQVQRPSFMDYFDKQDFKNKSHENCNQNMHEPFPMSKNVFPDNWKVPQDGDFDFLKNLSLEELQMRLKALDPMMEREIEELRQRYTAKRQPILDAMDAKKRRQQNF* 01BR026 ENSG00000130529.16 ENSG00000268669.1 +/+ +/+ chr19:49202141 chr19:49042153 CDS/splice-site exon duplication 3 0 0 51 1 medium out-of-frame . Ion_transport_protein(100%)| . . ENSG00000130529.16 ENSG00000268669.1 ENST00000252826.10 ENST00000593746.1 downstream upstream . ^(GCGGGTCTGGAAGCAGAGCCGGCGGAGGGAGCGCCGGGGCCCTGGGCTGCAGGAGGTTGCGGCGGCCGCGGCAGCATGGTGGTGCCGGAGAAGGAGCAG___AGCTGGATCCCCAAGATCTTCAAGAAGAAGACCTGCACGACGTTCATAGTTGACTCCACAGATCCGGG___AGGGACCTTGTGCCAGTGTGGGCGCCCCCGGACCGCCCACCCCGCAGTGGCCATGGAGGATGCCTTCGGGGCAGCCGTGGTGACCGTGTGGGACAGCGATGCACACACCACGGAGAAGCCCACCGATGCCTACGGAGAGCTGGACTTCACGGGGGCCGGCCGCAAGCACAGCAAT___TTCCTCCGGCTCTCTGACCGAACGGATCCAGCTGCAGTTTATAGTCTGGTCACACGCACATGGGGCTTCCGTGCCCCGAACCTGGTGGTGTCAGTGCTGGGGGGATCGGGGGGCCCCGTCCTCCAGACCTGGCTGCAGGACCTGCTGCGTCGTGGGCTGGTGCGGGCTGCCCAGAGCACAG___GAGCCTGGATTGTCACTGGGGGTCTGCACACGGGCATCGGCCGGCATGTTGGTGTGGCTGTACGGGACCATCAGATGGCCAGCACTGGGGGCACCAAGGTGGTGGCCATGGGTGTGGCCCCCTGGGGTGTGGTCCGGAATAGAGACACCCTCATCAACCCCAAG___GGCTCGTTCCCTGCGAGGTACCGGTGGCGCGGTGACCCGGAGGACGGGGTCCAGTTTCCCCTGGACTACAACTACTCGGCCTTCTTCCTGGTGGACGACGGCACACACGGCTGCCTGGGGGGCGAGAACCGCTTCCGCTTGCGCCTGGAGTCCTACATCTCACAGCAGAAGACGGGCGTGGGAG___GGACTGGAATTGACATCCCTGTCCTGCTCCTCCTGATTGATGGTGATGAGAAGATGTTGACG___CGAATAGAGAACGCCACCCAGGCTCAGCTCCCATGTCTCCTCGTGGCTGGCTCAGGGGGAGCTGCGGACTGCCTGGCGGAGACCCTGGAAGACACTCTGGCCCCAGGGAGTGGGGGAGCCAGGCAAGGCGAAGCCCGAGATCGAATCAGGCGTTTCTTTCCCAAAGGGGACCTTGAGGTCCTGCAGGCCCAG___GTGGAGAGGATTATGACCCGGAAGGAGCTCCTGACAGTCTATTCTTCTGAGGATGGGTCTGAGGAATTCGAGACCATAGTTTTGAAGGCCCTTGTGAAGG___CCTGTGGGAGCTCGGAGGCCTCAGCCTACCTGGATGAGCTGCGTTTGGCTGTGGCTTGGAACCGCGTGGACATTGCCCAGAGTGAACTCTTTCGGGGGGACATCCAATGGCGG___TCCTTCCATCTCGAAGCTTCCCTCATGGACGCCCTGCTGAATGACCGGCCTGAGTTCGTGCGCTTGCTCATTTCCCACGGCCTCAGCCTGGGCCACTTCCTGACCCCGATGCGCCTGGCCCAACTCTACAGCGCGGCGCCCTCCAACTCGCTCATCCGCAACCTTTTGGACCAGGCGTCCCACAGCGCAGGCACCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCTCCGGCCCCCTGACGTGGGGCATGTGCTGAGGATGCTGCTGGGGAAGATGTGCGCGCCGAGGTACCCCTCCGGGGGCGCCTGGGACCCTCACCCAGGCCAGGGCTTCGGGGAGAGC___ATGTATCTGCTCTCGGACAAGGCCACCTCGCCGCTCTCGCTGGATGCTGGCCTCGGGCAGGCCCCCTGGAGCGACCTGCTTCTTTGGGCACTGTTGCTGAACAGGGCACAGATGGCCATGTACTTCTGGGAGATG___GGTTCCAATGCAGTTTCCTCAGCTCTTGGGGCCTGTTTGCTGCTCCGGGTGATGGCACGCCTGGAGCCTGACGCTGAGGAGGCAGCACGGAGGAAAGACCTGGCGTTCAAGTTTGAGGGGATGGGCGTTG___ACCTCTTTGGCGAGTGCTATCGCAGCAGTGAGGTGAGGGCTGCCCGCCTCCTCCTCCGTCGCTGCCCGCTCTGGGGGGATGCCACTTGCCTCCAGCTGGCCATGCAAGCTGACGCCCGTGCCTTCTTTGCCCAGGATGGGGTACAG___TCTCTGCTGACACAGAAGTGGTGGGGAGATATGGCCAGCACTACACCCATCTGGGCCCTGGTTCTCGCCTTCTTTTGCCCTCCACTCATCTACACCCGCCTCATCACCTTCAG___GAAATCAGAAGAGGAGCCCACACGGGAGGAGCTAGAGTTTGACATGGATAGTGTCATTAATGGGGAAGGGCCTGTCGG___GACGGCGGACCCAGCCGAGAAGACGCCGCTGGGGGTCCCGCGCCAGTCGGGCCGTCCGGGTTGCTGCGGGGGCCGCTGCGGGGGGCGCCGGTGCCTACGCCGCTGGTTCCACTTCTGGGGCGCGCCGGTGACCATCTTCATGGGCAACGTGGTCAGCTACCTGCTGTTCCTGCTGCTTTTCTCGCGGGTGCTGCTCGTGGATTTCCAGCCGGCGCCGCCCGGCTCCCTGGAGCTGCTGCTCTATTTCTGGGCTTTCACGCTGCTGTGCGAGGAACTGCGCCAGGGCCTGAGCGGAGGCGGGGGCAGCCTCGCCAGCGGGGGCCCCGGGCCTGGCCATGCCTCACTGAGCCAGCGCCTGCGCCTCTACCTCGCCGACAGCTGGAACCAGTGCGACCTAGTGGCTCTCACCTGCTTCCTCCTGGGCGTGGGCTGCCG___GCTGACCCCGGGTTTGTACCACCTGGGCCGCACTGTCCTCTGCATCGACTTCATGGTTTTCACGGTGCGGCTGCTTCACATCTTCACGGTCAACAAACAGCTGGGGCCCAAGATCGTCATCGTGAGCAAGATG___ATGAAGGACGTGTTCTTCTTCCTCTTCTTCCTCGGCGTGTGGCTGGTAGCCTATGGCGTGGCCACGGAGGGGCTCCTGAGGCCACGGGACAGTGACTTCCCAAGTATCCTGCGCCGCGTCTTCTACCGTCCCTACC)TGCAGATCTTCGGGCAGATTCCCCAGGAGGACATGGACG___TGGCCCTCATGGAGCACAGCAACTGCTCGTCGGAGCCCGGCTTCTGGGCACACCCTCCTGGGGCCCAGGCGGGCACCTGCGTCTCCCAGTATGCCAACTGGCTGGTGGTGCTGCTCCTCGTCATCTTCCTGCTCGTGGCCAACATCCTGCTGGTCAACTTGCTCATTGCCATGTTCAG|TGTGTCAATGGGGTCCTAACCCCACCCTCGACATTGTCGCCTTTTCCTGATCCAAAGTGGGACCTTCTTTTCCCC(TGAGTGGTCCTGCCTAGGGGTGCCGCTGCCGGGCCCCCTCTGGTCTTCCTGCTGGAGACTGGGGCCTTTCGGGAGTCAGCAGGCGCCCGGGCCAACCGCAGCCAGCGAGGGGTGAGCAATACTTCACTGGCGAGTCATCAGGGTGAGGCTGGCCGTGTGTGATGCAGTCACTGGCTGGGTGACAGACCCCCGGACCGCTGTGGACTCAGGTGTGCTGGAGGTGGAGGTGTTGGGCGAGGTGCCTGCAGCTGGCGGCAGTTCCCTCTGCCAACACTTCTTTGTCACCTGCTTCGAGGCCAATAACTCTGAAGAAGGTGGCCCAGGGGTAGGTGGAGGGGCTGCCGCAGGGTGTGGACCGGGGGGCACTGGGTGTCTGAGTGCAAGGCCAAGCAGTCCTATGTGCGGGCATTGACCGCTGATGCCCAGGGCTGTGTGGACTGGTGATGGATTCAAATTGGCACTGCCTGTGTCTGCACACTCCTCAGCCGGACTGGCCGGGCCTGA)$ MVVPEKEQSWIPKIFKKKTCTTFIVDSTDPGGTLCQCGRPRTAHPAVAMEDAFGAAVVTVWDSDAHTTEKPTDAYGELDFTGAGRKHSNFLRLSDRTDPAAVYSLVTRTWGFRAPNLVVSVLGGSGGPVLQTWLQDLLRRGLVRAAQSTGAWIVTGGLHTGIGRHVGVAVRDHQMASTGGTKVVAMGVAPWGVVRNRDTLINPKGSFPARYRWRGDPEDGVQFPLDYNYSAFFLVDDGTHGCLGGENRFRLRLESYISQQKTGVGGTGIDIPVLLLLIDGDEKMLTRIENATQAQLPCLLVAGSGGAADCLAETLEDTLAPGSGGARQGEARDRIRRFFPKGDLEVLQAQVERIMTRKELLTVYSSEDGSEEFETIVLKALVKACGSSEASAYLDELRLAVAWNRVDIAQSELFRGDIQWRSFHLEASLMDALLNDRPEFVRLLISHGLSLGHFLTPMRLAQLYSAAPSNSLIRNLLDQASHSAGTKAPALKGGAAELRPPDVGHVLRMLLGKMCAPRYPSGGAWDPHPGQGFGESMYLLSDKATSPLSLDAGLGQAPWSDLLLWALLLNRAQMAMYFWEMGSNAVSSALGACLLLRVMARLEPDAEEAARRKDLAFKFEGMGVDLFGECYRSSEVRAARLLLRRCPLWGDATCLQLAMQADARAFFAQDGVQSLLTQKWWGDMASTTPIWALVLAFFCPPLIYTRLITFRKSEEEPTREELEFDMDSVINGEGPVGTADPAEKTPLGVPRQSGRPGCCGGRCGGRRCLRRWFHFWGAPVTIFMGNVVSYLLFLLLFSRVLLVDFQPAPPGSLELLLYFWAFTLLCEELRQGLSGGGGSLASGGPGPGHASLSQRLRLYLADSWNQCDLVALTCFLLGVGCRLTPGLYHLGRTVLCIDFMVFTVRLLHIFTVNKQLGPKIVIVSKMMKDVFFFLFFLGVWLVAYGVATEGLLRPRDSDFPSILRRVFYRPYLQIFGQIPQEDMDVALMEHSNCSSEPGFWAHPPGAQAGTCVSQYANWLVVLLLVIFLLVANILLVNLLIAMFs|vsmgs* 01BR026 ENSG00000165775.18 ENSG00000185010.15 +/+ -/+ chrX:155033553 chrX:154988263 CDS/splice-site intron duplication/5'-5' 3 0 0 328 26 medium out-of-frame . . . . ENSG00000165775.18 ENSG00000185010.15 ENST00000369498.8 . downstream upstream . ^(GACACCGCACGCTGAGCTCTGTGATGTAGCCGCTTGCGGAGACTGCAAGCAGCCGCGGCGCGCCCGGCCCTCCCTCTTCCGCTGCCGCCGTGGGAATGGAAACATCTGCCCCACGTGCC)GGAAGCCAAGTGGTGGCGACAACTGCGCGCCACTCCGCGGCCTACCGCGCAGATCCTCTACGTGTGTCCTCGCGAGACAAGCTCACCGAAATGGCCGCGTCCAGTCAAG___GAAACTTTGAGGGAAATTTTGAGTCACTGGACCTTGCGGAATTTGCTAAGAAGCAGCCATGGTGGCGTAAGCTGTTCGGGCAGGAATCTGGACCTTCAGCAGAAAAGTATAGCGTGGCAACCCAGCTGTTCATTGGAGGTGTCACTGGATG|GTCATCTAAATTACTTTGACACAAAGAAGCAGCTCAATTTAAAGCTCAAGCTTCAG___GAAAGGGAGCCCATCAGAATCCTG METSAPRAGSQVVATTARHSAAYRADPLRVSSRDKLTEMAASSQGNFEGNFESLDLAEFAKKQPWWRKLFGQESGPSAEKYSVATQLFIGGVTGw|sskll* 01BR026 ENSG00000160179.18 ENSG00000286027.1(86259),ENSG00000227702.1(10035) +/+ ./+ chr21:42288312 chr21:41669146 CDS/splice-site intergenic duplication 2 0 0 29 3 medium out-of-frame . ABC-2_type_transporter(100%),ABC_transporter(100%)| . . ENSG00000160179.18 . ENST00000398457.6 . downstream upstream . ^(AGACACTGAATCATCATTTGTAGTTTGGGGGGCTTTACATGCCTGCAGTGGTGAAAACTGAAATTTTGTCCCACTTAAGGGAGTTTCTTCTTCCCTTTATTAATTGCAAAATAAATATATGTCACTTCAGAGGGCAGCAGCTGGACTACCTATGTTTGTGG___CGCTACACCAACCTGAACTTCGCTTCCTGAGACCTAAGATTCAGCCCCGTGCTCAGCAGACATCAGGGATCACCGACTCTGTGCCAGGAGCTGTTCTTGATGCTGGGAACGCAGGGGTGGACAAAACAGAGAAAGCCCTGCCCTCAG___AATGCCAGCAGTTACTCTGCAGAGATGACGGAGCCCAAGTCGGTGTGTGTCTCGGTGGATGAGGTGGTGTCCAGCAACATGGAGGCCACTGAGACGGACCTGCTGAATGGACATCTGAAAAAAGTAGATAATAACCTCACGGAAGCCCAGCGCTTCTCCTCCTTGCCTCGGAGGGCAGCTGTGAACATTGAATTCAGGGACCTTTCCTATTCGGTTCCTGAAGGACCCTGGTGGAGGAAGAAAG___GATACAAGACCCTCCTGAAAGGAATTTCCGGGAAGTTCAATAGTGGTGAGTTGGTGGCCATTATGGGTCCTTCCGGGGCCGGGAAGTCCACGCTGATGAACATCCTGGCTGGATACAG___GGAGACGGGCATGAAGGGGGCCGTCCTCATCAACGGCCTGCCCCGGGACCTGCGCTGCTTCCGGAAGGTGTCCTGCTACATCATGCAGGATGACATGCTGCTGCCGCATCTCACTGTGCAGGAGGCCATGATG___GTGTCGGCACATCTGAAGCTTCAGGAGAAGGATGAAGGCAGAAGGGAAATG___GTCAAGGAGATACTGACAGCGCTGGGCTTGCTGTCTTGCGCCAACACGCGGACCGGGAGCCTGTCAGGTGGTCAGCGCAAGCGCCTGGCCATCGCGCTGGAGCTGGTGAACAACCCTCCAGTCATGTTCTTCGATGAGCCCACCAG___CGGCCTGGACAGCGCCTCCTGCTTCCAGGTGGTCTCGCTGATGAAAGGGCTCGCTCAAGGGGGTCGCTCCATCATTTGCACCATCCACCAGCCCAGCGCCAAACTCTTCGAGCTGTTCGACCAG___CTTTACGTCCTGAGTCAAGGACAATGTGTGTACCGGGGAAAAGTCTGCAATCTTGTGCCATATTTGAGGGATTTGGGTCTGAACTGCCCAACCTACCACAACCCAGCAGATTTTG___TCATGGAGGTTGCATCCGGCGAGTACGGTGATCA)GAACAGTCGGCTGGTGAGAGCGGTTCGGGAGGGCATGTGTGACTCAGACCACAAGAGAGACCTCGGGGGTGATGCCGAGGTGAACCCTTTTCTTTGGCACCGGCCCTCTGAAGAG___GACTCCTCGTCCATGGAAGGCTGCCACAGCTTCTCTGCCAGCTGCCTCACGCAGTTCTGCATCCTCTTCAAGAGGACCTTCCTCAGCATCATGAGGGACTCG|CCCCATCTAGAACATCCCTGGCGTTGGAGCAGCAGAATGCTAAGATGGGCTGGCTCAGTCTGGGAGCCATGAGCAGAGGGAGG MLGTQGWTKQRKPCPQNASSYSAEMTEPKSVCVSVDEVVSSNMEATETDLLNGHLKKVDNNLTEAQRFSSLPRRAAVNIEFRDLSYSVPEGPWWRKKGYKTLLKGISGKFNSGELVAIMGPSGAGKSTLMNILAGYRETGMKGAVLINGLPRDLRCFRKVSCYIMQDDMLLPHLTVQEAMMVSAHLKLQEKDEGRREMVKEILTALGLLSCANTRTGSLSGGQRKRLAIALELVNNPPVMFFDEPTSGLDSASCFQVVSLMKGLAQGGRSIICTIHQPSAKLFELFDQLYVLSQGQCVYRGKVCNLVPYLRDLGLNCPTYHNPADFVMEVASGEYGDQNSRLVRAVREGMCDSDHKRDLGGDAEVNPFLWHRPSEEDSSSMEGCHSFSASCLTQFCILFKRTFLSIMRDS|phlehpwrwssrmlrwagsvwep* 01BR026 ENSG00000137947.12 ENSG00000275131.3 -/- -/- chr1:88887261 chr1:120646928 CDS/splice-site exon/splice-site duplication 0 2 0 176 14 medium out-of-frame . TFIIB_zinc-binding(100%)| . . ENSG00000137947.12 ENSG00000275131.3 ENST00000370500.10 ENST00000612480.2 upstream downstream . ^(GCCACATTCGCTTCCTGCTTTCGGTGTGTCTGTTGTGTCTTGTTGCGGGCACCGCAGTCGCCGTGAAGATGGCGTCTACCAGCCG___TTTGGATGCTCTTCCAAGAGTCACAT)GTCCAAACCATCCAGATGCGATTTTAGTGGAGGACTACAGAGCCGGTGATATGATCTGTCCTGAATGTGGCTTGGTTGTAG|AGATTATTTTGCAGAGGATGATGGGGAGATGGTACCCAGAACGAGTCACACAGCAG___CTTTTCTTAGTGACACTAAAGATCGAGGCCCTCCAGTGCAGTCACAGATCTGGAGAAGTGGTGAAAtGGTCCCGTTTGTGCAGACATATTCCTcGAGAG(CATTTGAGAAACCCCCTCAGGTACAGACCCAGGCTCTTCGAGACTTTGAGAAG___CACCTCAATGACCTGAAGAAGGAGAACTTCAGCCTCAAGCTGCTCATCTACTTCCTGGAGGAGCGCATGCAACAGAAGTATGAGGCCAGCCGGGAGGACATCTACAAGCGG___GGGTGATGTGGAGAATCTCAACAGTCAGAATGAAGCTGAGCTCCGACGCCAGTTTGAGGAGCGACAGCAGGAGACGGAGCATGTTTATGAGCTCTTGGAGAATAAGATCCAGCTTCTGCAGGAG___GAATCCAGGCTAGCAAAGAATGAAGCTGCGCGGATGGCAGCTCTGGTGGAAGCAGAGAAGGAGTGTAACCTGGAGCTCTCAGAGAAACTGAAGGGAGTCACCAAAAACTGGGAAGATGTACCAGGAGACCAGGTCAAGCCCGACCAATACACTGAGACCCTGGCCCAGAGGGACAA___GAGAATTGAAGAACTGAATCAGAGCCTGGCTGCCCAGGAGAGGCTTGTAGAACAGCTATCTCGGGAGAAACAACAACTGCTACATCTGTTGGAGGAGCCAACTAGCATGGAAGTGCAG___CCCATGACTGAAGAGTTGCTGAAACAACAAAAGCTGAATTCACATGAGACCACTATAACTCAGCAGTCTGTATCTGATTCCCACTTGGCAGAACTCCAGGAAAAAATCCAGCAAACAGAGGCCACCAACAAG___ATTCTTCAAGAGAAACTTAATGAAATGAGCTATGAACTAAAGTGTGCTCAGGAGTTGTCTCAAAAGCAAGATGGTACAATTCAGAACCTCAAGGAAACTCTGAAAAGCAGGGAACGTGAG___ACTGAGGAGTTGTACCAGGTAATTGAAGGTCAAAATGACACAATGGCAAAGCTTCGAGAAATGCTGCACCAAAGCCAGCTTGGACAACTTCAC___AGCTCAGAGGGTACTTCTCCAGCTCAGCAACAGGTAGCTCTGCTTGATCTTCAGAGTGCTTTATTCTGCAGCCAACTTGAAATACAGAAGCTCCAGAGGGTGGTACGACAGAAAGAGCGCCAACTGGCTGATGCCAAACAATGTGTGCAATTTGTAGAGGCTGCAGCACACGAGAGTGAACAGCAGAAAGAGGCTTCTTGGAAACATAACCAG___GAATTGCGAAAAGCCTTGCAGCAGCTACAAGAAGTATTGCAGAATAAGAGCCAACAGCTTCGTGCCTGGGAGGCTGAAAAATACAATGAGATTCGAACCCAGGAACAAAACATCCAGCACCTAAACCATAGTCTGAGTCACAAGGAGCAGTTGCTTCAG___GAATTTCGGGAGCTCCTACAGTATCGAGATAACTCAGACAAAACCCTTGAAGCAAATGAAATGTTGCTTGAGAAACTTCGCCAGCGAATACGTGATAAAGCTGTTGCTCTGGAG___CGGGCTATAGATGAAAAATTCTCTGCTCTAGAAGAGAAAGAAAAAGAACTGCGCCAGCTTCGTCTTGCTGTGAGAGAGCGAGATCATGACCTAGAGAGACTGCGCGATGTCCTCTCCTCCAATGAAGCTACTATGCAA___ACTATGGAGAGTCTCCTGAGGGCCAAAGGCCTGGAAGTGGAACAGTTATCTACTACCTGTCAAAACCTCCAGTGGCTGAAAGAAGAAATGGAAACCAAATTTAGCCGTTGGCAGAAGGAACAAGAGAGTATCATTCAGCAGTTACAGACGTCTCTTCATGATAGGAACAAAGAAGTGGAGGCAAGACTTCA___TGCAACATTGCTCTGCAAACTTGGACCAGGGCAGAGTGAGATAGCAGAGGAGCTGTGCCAGCGTCTACAGTGAAAGGAAAGGATGCTGCAGGACCTTCTAAGTGATCGAAATAAACAAGTGCTGGAACATGAAATGGAGATTCAAGGCCTGCTTCAGTCTGTGAGCACCAGGGAGCAGGAAAGCCAA___GCTGCTGCAGAGAAGTTGGTGCAAGCCTTAATGGAAAGAAATTCAGAATTACAGGCCCTGCACCAATATTTAGGAGGGAGAGACTCCCTGATGTCCCAAGCACCCATCTCTAACCAACAAGCTGAAGTTACCCCCACTGGCCGTCTTGGAAAACAGACTGATCAA___GGTTCAATGCAGATACCTTCCAGAGATGATAGCACTTCATTGACTGCCAAAGAGGATGTCAGCATACCCAGATCCACATTAG___GAGACTTGGACACAGTTGCAGGGCTGGAAAAAGAACTGAGTAATGCCAAAGAGGAACTTGAACTCATGGCTAAAAAAGAAAGAGAAAGTCAG___GTGCAGCTGCAGGGGATGACACCGAAGATACAAGCACTGAGTTCACTGACAGTATTGAGGAGGAGGCTGCACACCATAGTCACCAGCAA___CTTGTCAAGGTGGCTTTGGAGAAAAGTCTGGCAACTGTGGAGACCCAGAACCCATCTTTTTCCCCTCCTTCTCCGATGGGAGGGGACAGTAACAGGTGTCTTCAGGAAGAAATGCTCCACCTGAGGGCTGAGATCCACCAGCACTTAGAAGAGAAGAGGAAAGCTGAGGAGGAACTGAAGGAGCTAAAGGCTCAAATTGAGGAAGCAGGATTCTCCTCAGTGTCCCACATCAG___GAACACCATGCTGAGCCTTTGCCTTGAGAATGCGGAGCTGAAAGAGCAGATGGGAGAAACAATGTCTGATGGATGGGAGATCGAGGAAGACAAGGAGAAGGGCGAGGTGATGGTTGAGACTGTGGTAACCAAAGAGGGTCTGAGTGAGAGTAGCCTTCAGGCTGAGTTCAGAAAGCTCCAGGGAAAACTGAAGAATGCCCACAATATCATCAACCTCCTCAAAGAACAACTTGTGCTGAGTAGCAAGGAAGGGAATAGTAAACTTACTCCAGAGCTCCTTGTGCATCTGACCAGCACCATCGAAAGAATAAACACAGAACTGGTTGGTTCCCCTGGGAAGCACCAACACCAAGAGGAGGGGAATGTGACTGTGAGGCCTTTCCCCAGACCCCAGAGCCTTGACCTTGGGGCTACCTTCACAGTGGATGCCCACCAA___TTGGATAACCAGTCCCAGCCTCGTGACCCTGGGCCTCAGTCAGCGTTTAGCCTACCAGGGTCCACCCAGCACCTGCGCTCCCAGCTGTCACAATGCAAACAACGCTATCAAGATCTCCAGGAGAAGCTGCTGCTATCAGAAGCCACTGTCTTTGCTCAGGCTAACGAGCTGGAGAAATACAGAGTTATGCTTA___CAGGTGAATCCTTGGTGAAGCAGGACAGCGAGCAGATCCAGGTGGACCTCCAGGACCTGGGCTATGAGACTTGTGGCCGAAGCGAGAATGAGGCTGAACGGGAGGAAACCACCAGTCCTG___AGTGTGAGGAGCACAACAGCCTCAAGGAAATGGTCCTGATGGAGGGGCTGTGCTCTGAGCAGGGACGCCGGGGCTCAACACTGGCTAGTTCCTCTGAGAGGAAGCCCTTGGAGAACCAGCTAGGGAAGCAGGAAGAGTTCCGGGTATATGGAAAGTCAGAAAACATCTTGGTCCTACGAAAGGACATCGAAGATCTGAAGGCCCAGCTGCAGAATGCCAACAAGATCATTCAAAACCTCAAGAGCCGGGTCCGGTCCCTCTCAGTTACAAGTGATTATTCGTCTAGTCTGGAAAGACCCCGGAAGCTGAGAGCTGTTGGCACCTTGGAGGGGTCTTCACCTCATAGTGTCCCTGATGAGGATGAGGGGTGGCTGTCTGATGGCACTGGGGCTTTCTACTCTCCAGGGCTTCAGGCCAAAAAGGACCTGGAGAGTCTCATCCAGAGAGTATCCCAGCTGGAGGCCCAGCTCCCAGAAAATGGACTAGAAGAGAAGCTGGCTGAGGAGCTGAGATCAGCCTCGTGGCCTGG___GAAATATGATTCCCTGATTCAGGATCAGGCCCGGGAACTGTCTTACCTACGGCAAAAAATACGAGAAGGGAGAGGTATTTGTTATCTTATCACCCAGCATGCAAAAGATACAGTAAAATCTTTTGAGGATCTCCTAAGGAGCAATGACATTGACTACTACCTGGGACAGAGCTTCCGGGAGCAACTCGCCCAGGGAAGCCAGCTGACAGAGAGGCTCACCAGCAAACTCAGCACCA___AGGATCATAAAAGTGAGAAAGATCAAGCTGGACTTGAGCCACTGGCCCTCAG___GCTCAGCAGGGAGCTGCAGGAGAAGGAGAAAGTGATTGAAGTCCTGCAGGCCAAGCTGGATGCTCGGTCCCTCACACCCTCCAGCAGCCGTGCCTTGTCTGACTCCCACCGCTCTCCCAGCAGCACCTCTTTCCTGTCTGATGAGCTGGAAGCCTGCTCTGACATGGACATAGTCAGCGAGTACACACACTATGAAGAGAAGAAAGCTTCTCCCAGTCACTCAG___ATTCCATCCATCATTCGAGTCATTCTGCTGTGTTGTCTTCTAAACCATCATCAACCAGTGCATCTCAGGGGGCTAAGGCCGAATCCAACAGCAACCCCATCAGCTTGCCAACTCCCCAGAATACCCCCAAGGAGGCCAACCAAGCCCATTCAG___GCTTTCATTTTCACTCCATACCCAAGCTGGCTAGCCTTCCTCAGGCACCATTGCCCTCAGCTCCATCCAGCTTCCTGCCTTTCAGCCCCACTGGCCCTCCCCTCCTTGGCTGCTGTGAGACACCAGAGGTCTCCTTGGCTGAGTCTCAGCAGGAGCTACAGATGCTGCAGAAGCAGTTGGGAGAAA___GTACCAGCACTGTTCCTCCTGCTTCCACAGCTACATTGCTGAGCAACGACTTGGAAGCCGACTCTTCCTACTACCTCAACTCTGCCCAGCCTCACTCTCCTCCAAGGGGCACCATAGAACTGGGAAGAATCCTAGAGCCTGGGTACCTGGGCAGCAGTGGCAAGTGGGATGTGATGAGGCCTCAGAAAGGGAGTGTATCTGGGGACCTATCCTCAGGCTCCTCTGTGTACCAGCTTAACTCCAAACCCACAG___GGGCTGACCTGCTGGAAGAGCATCTTGGTGAAATCCGGAACCTGCGCCAGCGCCTGGAGGAGTCCATCTGCATCAATGACTGCCTACGGGAGCAACTGGAACACCGGCTGACCTCTACTGCTCGTGGAAGGG___GATCCACTTCTAACTTCTACAGTCAGGGCCTGGAGTCCATACCTCAGCTCTGCAATGAGAACAGAGTCCTCAGGGAAGAAAATCGAAGACTTCAGGCTCAACTGAGTCATGTTTCCAGAG___AGCACTCCCAGGAAACAGAAAGCCTGAGGGAGGCTCTGCTGTCCTCTCGATCCCACCTTCAAGAGCTGGAAAAGGAGCTGGAGCACCAGAAGGTGGAAAGGCAGCAGCTTTTGGAAGACTTGAGGGAGAAGCAGCAAGAGGTCTTGCATTTCAGGGAGGAACGTCTTTCCCTCCAGGAAAACGACTCCAG___ACTGCAGCACAAGCTGGTTCTCCTGCAGCAACAGTGTGAAGAGAAACAGCAGCTCTTTGAGTCCCTCCAGTCAGAGCTACAAATCTACGAGGCACTTTATGGCAATTCCAAGAAGGGGCTGAAAG___CTTACAGCCTGGATGCCTGTCACCAAATCCCTTTGAGCAGTGACCTGAGCCACCTGGTGGCAGAGGTACGAGCTCTGAGAGGGCAGCTGGAGCAGAGCATTCAGGGGAACAATTGTCTGCGACTGCAGCTGCAACAGCAGCTGGAGAGCGGTGCTGGCAAAGCCAGCCTCAGCCCCTCCTCCATTAACCAGAACTTCCCAGCCAGCACTGACCCTGGAAACAAGCAGCTGCTCCTCCAAG___ATTCAGCTGTGTCCCCTCCAGTCCGGGATGTTGGTATGAATTCCCCAGCTCTGGTCTTCCCCAGCTCTGCTTCCTCTACTCCTGGCTCAGAAACGCCCATAATCAACAGAGCAAATG___GCTTGGGTTTGGATACTTCTCCAGTAATGAAGACCCCTCCCAAGCTAGAGGGTGATGCTACTGATGGCTCCTTTGCCAATAAGCATGGCCGCCATGTCATTGGCCACATTGATGACTACAGTGCCCTAAGACAGCAGATTGCGGAGGGCAAGCTGCTGGTCAAAAAGATAGTGTCTCTTGTGAGATCAGCGTGCAGCTTCCCTGGCCTTGAAGCCCAAGGCACAGAG___GTGCTAGGCAGCAAAGGCATTCATGAGCTTCGGAGCAGCACCAGTGCCCTGCACCATGCCCTAGAGGAGTCGGCTTCCCTCCTCACCATGTTCTGGAGAGCGGCCCTGCCAAGCACCCACATCCCTGTGCTGCCTGGCAAAGTG___GGAGAATCAACAGAAAGGGAACTTCTGGAACTGAGAACCAAAGTATCCAAACAGGAGCAGCTCCTTCAGAGCACAACTGAGCATCTGAAGAATGCCAACCAGCAGAAGGAGAGCATGGAACAGTTCATTGTCAGCCAGC___TAACCAGAACACATGATGTTTTAAAGAAGGCAAGGACTAACTTAGAG___GTGAAATCCCTAAGGGCTCTGCCGTGTACTCCAGCCTTGTGACCCTTGCCTTCCAGG)$ MASTSRLDALPRVTCPNHPDAILVEDYRAGDMICPECGLVV|eiilqrmmgrwypervtqqlflvtlkiealqcshrsgevvkwsrlcrhiprehlrnplryrprlfetlrstsmt* 01BR027 ENSG00000175899.15 ENSG00000256069.7 -/- -/- chr12:9098607 chr12:9229413 CDS/splice-site exon/splice-site duplication 34 18 0 686 33 high out-of-frame . Alpha-2-macroglobulin_family_N-terminal_region(100%),MG2_domain(100%)| . . ENSG00000175899.15 ENSG00000256069.7 ENST00000318602.12 ENST00000543404.5 upstream downstream . ^(GGGACCAGATGGATTGTAGGGAGTAGGGTACAATACAGTCTGTTCTCCTCCAGCTCCTTCTTTCTGCAACATGGGGAAGAACAAACTCCTTCATCCAAGTCTGGTTCTTCTCCTCTTGGTCCTCCTGCCCACAGACGCCTCAGTCTCTGGAAAACC___GCAGTATATGGTTCTGGTCCCCTCCCTGCTCCACACTGAGACCACTGAGAAGGGCTGTGTCCTTCTGAGCTACCTGAATGAGACAGTGACTGTAAGTGCTTCCTTGGAGTCTGTCAGGGGAAACAGGAGCCTCTTCACTGACCTGGAGGCGGAGAATGACGTACTCCACTGTGTCGCCTTCGCT___GTCCCAAAGTCTTCATCCAATGAGGAGGTAATGTTCCTCACTGTCCAAGTGAAAGGACCAACCCAAGAATTTAAGAAGCGGACCACAGTGATGGTTAAGAACGAGGACAGTCTGGTCTTTGTCCAGACAGACAAATCAATCTACAAACCAGGGCAGACAG___TGAAATTTCGTGTTGTCTCCATGGATGAAAACTTTCACCCCCTGAATGAGTTG___ATTCCACTAGTATACATTCAG___GATCCCAAAGGAAATCGCATCGCACAATGGCAGAGTTTCCAGTTAGAGGGTGGCCTCAAGCAATTTTCTTTTCCCCTCTCATCAGAGCCCTTCCAGGGCTCCTACAAGGTGGTGGTACAGAAGAAATCAGGTGGAAGGACAGAGCACCCTTTCACCGTGGAGGAATTTG___TTCTTCCCAAGTTTGAAGTACAAGTAACAGTGCCAAAGATAATCACCATCTTGGAAGAAGAGATGAATGTATCAGTGTGTGGCCT___ATACACATATGGGAAGCCTGTCCCTGGACATGTGACTGTGAGCATTTGCAGAAAGTATAGTGACGCTTCCGACTGCCACGGTGAAGATTCACAGGCTTTCTGTGAGAAATTCAGTGGACAG___CTAAACAGCCATGGCTGCTTCTATCAGCAAGTAAAAACCAAGGTCTTCCAGCTGAAGAGGAAGGAGTATGAAATGAAACTTCACACTGAGGCCCAGATCCAAGAAGAAGGAACAG___TGGTGGAATTGACTGGAAGGCAGTCCAGTGAAATCACAAGAACCATAACCAAACTCTCATTTGTGAAAGTGGACTCACACTTTCGACAGGGAATTCCCTTCTTTGGGCAG___GTGCGCCTAGTAGATGGGAAAGGCGTCCCTATACCAAATAAAGTCATATTCATCAGAGGAAATGAAGCAAACTATTACTCCAATGCTACCACGGATGAGCATGGCCTTGTACAGTTCTCTATCAACACCACCAATGTTATGGGTACCTCTCTTACTGTTAGG___GTCAATTACAAGGATCGTAGTCCCTGTTACGGCTACCAGTGGGTGTCAGAAGAACACGAAGAGGCACATCACACTGCTTATCTTGTGTTCTCCCCAAGCAAGAGCTTTGTCCACCTTGAGCCCATGTCTCATGAACTACCCTGTGGCCATACTCAGACAGTCCAGGCACATTATATTCTGAATGGAGGCACCCTGCTGGGGCTGAAGAAGCTCTCCTTCTATTATCTG___ATAATGGCAAAGGGAGGCATTGTCCGAACTGGGACTCATGGACTGCTTGTGAAGCAGGAAGACA___TGAAGGGCCATTTTTCCATCTCAATCCCTGTGAAGTCAGACATTGCTCCTGTCGCTC)GGTTGCTCATCTATGCTGTTTTACCTACCGGGGACGTGATTGGGGATTCTGCAAAATATGATGTTGAAAATTGTCTGGCCAACAAG___GTGGATTTGAGCTTCAGCCCATCACAAAGTCTCCCAGCCTCACACGCCCACCTGCGAGTCACAGCGGCTCCTCAGTCCGTCTGCGCCCTCCGTGCTGTGGACCAAAGCGTGCTGCTCATGAAGCCTGATGCTGAGCTCTCGGCGTCCTCG|ATGAATTCACCTTTGAAGAATACAATGCCCCTTGCAGTGCTG(___AATCTGAATAAAGAAATGCTTGAAAACAGCAACTTACGGACCTCATTGGGTGAACTTCTCCAGAAATGAAGAACAGACTCATCAATAGAGAGGACAGTGAGAGAAAGAAGGGAAGATCATTGGAAATACACAAAATTTGTATGTTGAATAAATTTATGGCATTTAT)$ MGKNKLLHPSLVLLLLVLLPTDASVSGKPQYMVLVPSLLHTETTEKGCVLLSYLNETVTVSASLESVRGNRSLFTDLEAENDVLHCVAFAVPKSSSNEEVMFLTVQVKGPTQEFKKRTTVMVKNEDSLVFVQTDKSIYKPGQTVKFRVVSMDENFHPLNELIPLVYIQDPKGNRIAQWQSFQLEGGLKQFSFPLSSEPFQGSYKVVVQKKSGGRTEHPFTVEEFVLPKFEVQVTVPKIITILEEEMNVSVCGLYTYGKPVPGHVTVSICRKYSDASDCHGEDSQAFCEKFSGQLNSHGCFYQQVKTKVFQLKRKEYEMKLHTEAQIQEEGTVVELTGRQSSEITRTITKLSFVKVDSHFRQGIPFFGQVRLVDGKGVPIPNKVIFIRGNEANYYSNATTDEHGLVQFSINTTNVMGTSLTVRVNYKDRSPCYGYQWVSEEHEEAHHTAYLVFSPSKSFVHLEPMSHELPCGHTQTVQAHYILNGGTLLGLKKLSFYYLIMAKGGIVRTGTHGLLVKQEDMKGHFSISIPVKSDIAPVARLLIYAVLPTGDVIGDSAKYDVENCLANKVDLSFSPSQSLPASHAHLRVTAAPQSVCALRAVDQSVLLMKPDAELSASS|mnsplkntmplavlnlnkemlensnlrtslgellqk* 01BR027 ENSG00000145391.13 ENSG00000164134.13 -/- +/- chr4:139546920 chr4:139405488 CDS/splice-site intron deletion/read-through/5'-5' 16 19 0 101 65 high out-of-frame . MORN_repeat(100%)| . . ENSG00000145391.13 ENSG00000164134.13 ENST00000506866.6 . upstream downstream duplicates(2),mismatches(3) ^(CTCCAAACTCGCGAGCCCCAGAGCTCGCTCAGCCGCCGGGAGCACCCAGAGGGACGGGAGGCAGCCGCGCAGCCCCGAGCTGGGCAGTGTCCCCAGCCGCCATGGATAGCGA)CGACGAGATGGTGGAGGAGGCGGTGGAAG___GGCACCTGGACGATGACGGATTACCGCACGGGTTCTGCACAGTCACCTACTCCTCCACAGACAGATTTGAGGGGAACTTTGTTCACGGAGAAAAGAACGGACGGGGGAAGTTCTTCTTCTTTGATGGCAG|GTGGATGGAAAGCCGATTTCCAGTCTTTATGATAACGCCGATGTTCCACTTGGGAAAGATACTGTACAACAATGAAAGTAGCCCTTTCTTTTGTCTTTCAAAGAATGTATTTTTAACAAACAGCCTCTGTGTGATCCTTTTGACCACACAATTTGTAGAGTTAACGCTGAAtTTTTCATTAGCAACAATGAAAGCACACACAGGCACAATATTAATATAGATTAATATCAGCCTATTTTGGTCAGAAAGGCTCATTTAAATGTTT MDSDDEMVEEAVEGHLDDDGLPHGFCTVTYSSTDRFEGNFVHGEKNGRGKFFFFDGr|wmesrfpvfmitpmfhlgkilynnesspffclsknvfltnslcvillttqfveltlnfslatmkahtgtili* 01BR027 ENSG00000133612.19 ENSG00000002726.20(58445),ENSG00000055118.15(25012) +/+ ./+ chr7:151142253 chr7:150919949 CDS/splice-site intergenic duplication 10 15 1 70 39 high out-of-frame . PH_domain(100%),Putative_GTPase_activating_protein_for_Arf(100%),Ras_family(100%)| . . ENSG00000133612.19 . ENST00000463381.5 . downstream upstream . ^(CTTTTAGGAGAGCACTGCTGCAGCCGGCAGTGGAGAGCCTGGGCAGGGAGACAGGGAGAAAACTCCGGCAGCAGGGTGGTCTCTAGGGCTGACCTCGGAGCCTGGGGACAGGGGAGCCTATGCCGCACTGAAGGCGGGACGCT___ACTCGTTTGTGAACAGCCAGGAGTGGACGCTGAGCCGCTCCGTACCGGAGCTTAAAGTG___GGCATAGTGGGGAACCTGTCTAGCGGGAAGTCAGCCCTGGTGCACCGCTATCTGACGGGGACCTATGTCCAGGAGGAGTCCCCTGAAG___GGGGGCGGTTTAAGAAGGAGATTGTGGTGGATGGCCAGAGTTACCTGCTGCTGATCCGAGATGAAGGAGGCCCCCCTGAGCTCCAG___TTTGCTGCCTGGGTGGATGCAGTGGTGTTTGTGTTCAGCCTGGAGGATGAAATCAGTTTCCAGACGGTGTACAACTACTTCCTGCGTCTCTGCAGCTTCCGCAACGCCAGCGAGGTGCCCATGGTGCTTGTGGGCACGCAGG___ATGCCATCAGCGCTGCGAATCCCCGGGTTATCGACGACAGCAGAGCCCGCAAGCTCTCCACAGATCTGAAGCGGTGCACCTACTATGAGACGTGCGCGACCTACGGGCTCAATGTGGAGCGTGTCTTCCAGGACG___TGGCCCAGAAGGTAGTGGCCTTGCGAAAGAAGCAGCAACTGGCCATCGGGCCCTGCAAGTCACTGCCCAACTCGCCCAGCCACTCGGCCGTGTCCGCCGCCTCCATCCCGGCCGTGCACATCAACCAG___GCCACGAATGGCGGCGGCAGCGCCTTCAGCGACTACTCGTCCTCAGTCCCCTCCACCCCCAGCATCAGCCAGCGGGAGCTGCGCATCGAGACCATCGCTGCCTCCTCCACCCCCACACCCATCCGAAAGCAGTCCAAGCGGCGCTCCAACATCTTCACG___TCTCGGAAGGGTGCTGACCTGGACCGGGAGAAGAAGGCTGCCGAGTGCAAGGTGGACAGCATCGGGAGCGGCCGCGCCATCCCCATCAAGCAG___GGGATCCTGCTAAAGCGGAGCGGCAAGTCCCTGAACAAGGAGTGGAAGAAGAAGTATGTGACGCTCTGTGACAACGGGCTGCTCACCTATCACCCCAGCCTGCAT___GATTACATGCAGAACATCCACGGCAAGGAGATTGACCTGCTGCGGACAACGGTGAAAGTGCCAGGGAAGCGCCTGCCCCGAGCCACACCTGCCACAGCCCCGGGCACCAGCCCCCGTGCCAACGGGCTGTCCGTGGAGCGGAGTAACACACAGCTGGGTGGGGGCACAG___AGGCAGAGG)AGTCGTTTGAATTTGTGGTGGTGTCCCTCACTGGGCAGACGTGGCACTTCGAGGCTTCAACGGCGGAGGAGCGGGAGCTGTGGGTTCAGAGTGTGCAGGCCCAGATCCTTGCCAGCCTGCAAGGCTGCCGCAGTGCCAAGGACAAG___ACTCGACTGGGGAACCAGAACGCAGCTCTGGCTGTGCAGGCCGTCCGCACCGTCCGCGGCAACAGCTTTTGTATCGACTGCGATGCACCCA|ACAGATTGTGATCAGGAAGCATCACACAGGAGCTTCTAGGGGGCCG___GTTGTTCTATCACCAATCATCCATCTGGGTCCCTGCCAAGCCTCTGAGTCTCTGGCCAGATATTTTCCATTGCCCATGAATTACTGTTGAGCTTCACTCCAGCCCATCCATTCTTCCAG___ATGTCATCAAGATGCCAAGAATTGCTGGCAACCtCCAGAAGCTGAGAGAGGCAAGAAGACTCC MVLVGTQDAISAANPRVIDDSRARKLSTDLKRCTYYETCATYGLNVERVFQDVAQKVVALRKKQQLAIGPCKSLPNSPSHSAVSAASIPAVHINQATNGGGSAFSDYSSSVPSTPSISQRELRIETIAASSTPTPIRKQSKRRSNIFTSRKGADLDREKKAAECKVDSIGSGRAIPIKQGILLKRSGKSLNKEWKKKYVTLCDNGLLTYHPSLHDYMQNIHGKEIDLLRTTVKVPGKRLPRATPATAPGTSPRANGLSVERSNTQLGGGTEAEESFEFVVVSLTGQTWHFEASTAEERELWVQSVQAQILASLQGCRSAKDKTRLGNQNAALAVQAVRTVRGNSFCIDCDAP|nrl* 01BR027 ENSG00000249859.11 ENSG00000256513.1 +/+ -/- chr8:127794734 chr12:28822273 exon/splice-site exon/splice-site translocation 4 21 1 340 68 high . . . . . ENSG00000249859.11 ENSG00000256513.1 ENST00000651587.1 ENST00000537327.1 downstream downstream . ^(AGAGCGCGTGTGGCGGCCG)AGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA|AATAAACAGGATTCCCAGGAGTGACTTGGTTCTGAATGACTTGGAAGTCAAAAGGAAGAGTCCGTTTCTCCAGTAACAAAAGTATGCCTGACAAGAGGCTCTAAGCTGTCCTGGATGCCAATCTTTGTGCCGACTACTTTACAGTGATTGATTGCTCATACTTCACGGCAACCCTGTGGAATAGATAACATCATCATCCCCCTTTTACTGAGGTGTGGGGAAGTTACCTCTATTGCCCATGATCATAGTTTAGCTGGC(GCTGCTTTATAAAAGAATGAATGAATAAATTAATGAATGAA)$ . 01BR027 ENSG00000249859.11 ENSG00000256513.1 +/+ -/- chr8:127796008 chr12:28822273 exon/splice-site exon/splice-site translocation 0 1 1 102 68 medium . . . . . ENSG00000249859.11 ENSG00000256513.1 ENST00000656693.1 ENST00000537327.1 downstream downstream . ^(GTCCTGTGGTCATAGCGAATCTTTCTAAAGCTCTGATCAGTCAAGAAGGGGGTTGTATCAATCCTCAGAACCCTGAGTGGAACTTTCTACAGGATTTATTAGGAGAAAAACCTTCCCGGAAGCTGCAGAA)GGACAAATACAGAATCCGTGTCTGGGAGAAACCTCGTGGCCTGGTCTCCATTATTTGAGATGAGTTACATCTTGGAG|AATAAACAGGATTCCCAGGAGTGACTTGGTTCTGAATGACTTGGAAGTCAAAAGGAAGAGTCCGTTTCTCCAGTAACAAAAGTATGCCTGACAAGAGGCTCTAAGCTGTCCTGGATGCCAATCTTTGTGCCGACTACTTTACAGTGATTGATTGCTCATACTTCAC(GGCAACCCTGTGGAATAGATAACATCATCATCCCCCTTTTACTGAGGTGTGGGGAAGTTACCTCTATTGCCCATGATCATAGTTTAGCTGGCGCTGCTTTATAAAAGAATGAATGAATAAATTAATGAATGAA)$ . 01BR027 ENSG00000249859.11 ENSG00000256513.1 +/+ -/- chr8:127796071 chr12:28822273 exon/splice-site exon/splice-site translocation 0 1 1 69 68 medium . . . . . ENSG00000249859.11 ENSG00000256513.1 ENST00000651587.1 ENST00000537327.1 downstream downstream . ^(AGAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA___GATTTATTAGGAGAAAAACCTTCCCGGAAGCTGCAGAAGGACAAATACAGAATCCGTGTCTGGGAGAAACCTCGTGGCCTGGTCTCCATTATTTGAGATGAGTTACATCTTGGAGGTGAGGACGTGCCTCGTGGTCTAAAGCTTCGGCACAAGGGCCCAA)CTGGAATTCCACTTACGG|AATAAACAGGATTCCCAGGAGTGACTTGGTTCTGAATGACTTGGAAGTCAAAAGGAAGAGTCCGTTTCTCCAGTAACAAAAGTATGCCTGACAAGAGGCTCTAAGCTGTCCTGGATGCCAATCTTTGTGCCGACTACTTTACAGTGATTGATTGCTCATACTTCAC(GGCAACCCTGTGGAATAGATAACATCATCATCCCCCTTTTACTGAGGTGTGGGGAAGTTACCTCTATTGCCCATGATCATAGTTTAGCTGGCGCTGCTTTATAAAAGAATGAATGAATAAATTAATGAATGAA)$ . 01BR027 ENSG00000115806.13 ENSG00000198586.14 +/+ -/+ chr2:170962946 chr2:171089688 CDS/splice-site intron deletion/read-through/5'-5' 8 16 0 199 44 high out-of-frame . GRASP55/65_PDZ-like_domain_(100%)| . . ENSG00000115806.13 ENSG00000198586.14 ENST00000234160.5 . downstream upstream mismappers(2),mismatches(1) ^(AAGTGCTACGCGGAGGATTAGAGCAGGCGGTGCGCTGGGGGCGGGAGCAGCGCGGAGCCCGGCTCGGCCACACCGATCGCCCGCCGCCATGGGCTCCTCGCAAAGCGTCGAGATCCCGGGCGGGGGCACCGAGGGCTACCACGTTCTGCGG___GTACAAGAAAATTCCCCAGGACACAGAGCTGGTTTGGAGCCTTTCTTTGATTTTATTGTTTCTATTAATGGTTCAAGATTA___AATAAAGACAATGACACTCTTAAGGATCTGCTGAAAGCAAACGTTGAAAAGCCTGTAAAGATGCTTATCTATAGCAGCAAAACATTGGAACTGCGAGAGACCTCAGTCACACCAAGTAACCTGTGGGGCGGCCAGGGCTTATTGGGAGTGAGCATTCGTTTCTGCAGCTTTGATGGGGCAAATGAAAATGTTTGGCATGTGCTG___GAGGTGGAATCAAATTCTCCTGCAGCACTGGCAGGTCTTAGACCACACAGTGATTATATAATTGGAGCAGATACAGTCATGAATGAG___TCTGAAGATCTATTCAGCCTTATCGAAACACATGAAGCAAAACCATTGAAACTGTATGTGTACAACACAGACACTGATAACTGTCGAGAAGTGATTATTACACCAAATTCTGCATGGGGTGGAGAAGGCAG___CCTAGGATGTGGCATTGGATATGGTTATTTGCATCGAATACCTACACGCCCATTTGAGGAAGGAAAGAAAATTTCTCTTCCAGGACAAATGGCTGGTACACCTATTACACCTCTTAAAGATGGGTTTACAGAG___GTCCAGCTGTCCTCAGTTAATCCCCCGTCTTTGTCACCACCAGGAACTACAGGAATTGAACAGA)GTCTGACTGGACTTTCTATTAGCTCAACTCCACCAGCTGTCAGTAGTGTTCTCAGTACAG___GTGTACCAACAGTACCGTTATTGCCACCACAAGTAAACCAGTCCCTCACTTCTGTGCCACCAATGAATCCAGCTACTACATTACCAG___GTCTGATGCCTTTACCAGCAGGACTGCCCAACCTCCCCAACCTCAACCTCAACCTCCCAGCACCACACATCATGCCAGGGGTTGGCTTACCAGAACTTGTAAACCCAG|GAGACCAGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGCAGTGGCATGATCATAGCTCACTGCACCCTCGAACTCCTGGGCTCACGTGATCCTCCCGTTCAACCTCTTAAGTAGCTGGGATTACGGGCACgAGCCACCGTGCCTGGTTTAATTTTATCAATAATACCACAAAATATTCTTGATATCTAGTAGTATAATTCTCCCAGCTCTGTTATTGTCCTTTAAGGCTGCCTAGACCATTCTTGGTCTTTACATTTTTATATAATTTTGGAATCAGCTTGTTACTTT MGSSQSVEIPGGGTEGYHVLRVQENSPGHRAGLEPFFDFIVSINGSRLNKDNDTLKDLLKANVEKPVKMLIYSSKTLELRETSVTPSNLWGGQGLLGVSIRFCSFDGANENVWHVLEVESNSPAALAGLRPHSDYIIGADTVMNESEDLFSLIETHEAKPLKLYVYNTDTDNCREVIITPNSAWGGEGSLGCGIGYGYLHRIPTRPFEEGKKISLPGQMAGTPITPLKDGFTEVQLSSVNPPSLSPPGTTGIEQSLTGLSISSTPPAVSSVLSTGVPTVPLLPPQVNQSLTSVPPMNPATTLPGLMPLPAGLPNLPNLNLNLPAPHIMPGVGLPELVNP|gdqvllchsgwsavqwhdhsslhprtpglt* 01BR027 ENSG00000054523.17 ENSG00000142655.13 +/+ +/+ chr1:10297246 chr1:10623019 CDS/splice-site CDS/splice-site deletion/read-through 15 8 0 85 56 high in-frame . FHA_domain(100%),Kinesin-associated(100%),Kinesin_motor_domain(100%)| . . ENSG00000054523.17 ENSG00000142655.13 ENST00000377086.5 ENST00000356607.9 downstream upstream mismatches(1) ^(GGAGGCTGCTTGAGCAAGCTAGTCATTGTTCATGCAACACAAAACATTCCCGCCCCTAACGCCAGAATGGAGCTTCCAGATCCCTTTTTTTTTTTTTCCTTGATTGCTAAATGAGCTTCCAAG___GAAACTTGGCTGTAACTTCAAAAGAAGATTTGATTCTTTATTTCTGGACTGCATATATATATATAACAAGGCCATTAAAATGTCGGGAGCCTCAGTGAAGGTGGCTGTCCGGGTAAGGCCCTTCAATTCTCGAGAGACCAGCAAGGAATCCAAATGCATCATTCAGATGCAAGGCAACTCGACCA___GTATTATTAACCCAAAGAATCCAAAGGAAGCTCCAAAGTCCTTCAGCTTCGACTATTCCTACTGGTCTCATACCTCA___CCCGAAGATCCCTGTTTTGCATCTCAAAACCGTGTGTACAATGACATTGGCAAGGAAATGCTCTTACACGCCTTTGAGGGATATAATGTCTGTATTTTTGCCTATGGGCAGACTGGTGCTGGAAAATCTTATACAATGATGGGTAAACAAGAAGAAAGCCAGGCTGGCATCATTCCACAG___TTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAG___GTGAGCTACATGGAAATTTACTGTGAAAGAGTACGAGATTTGCTGAATCCAAAAAACAAGGGTAATTTGCGTGTGCGTGAACACCCACTTCTTGGACCCTATGTGGAGGATCTGTCCAAGTTGGCAGTTACTTCCTACACAGACATTGCTGACCTCATGGATGCTGGGAACAAAGCCAG___GACAGTGGCAGCTACAAACATGAATGAAACAAGTAGCCGTTCCCACGCTGTGTTTACGATTGTTTTCACCCAGAAGAAACACGATAATGAGACCAACCTTTCCACTGAGAAG___GTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAG___GAAGGAGCAAATATTAATAAGTCTCTTACAACTTTGGGCAAAGTCATTTCAGCCTTGGCCGAGGTG___GATAACTGCACTAGCAAG___AGTAAAAAGAAGAAGAAAACAGATTTTATTCCCTACAGGGATTCTGTACTTACTTGGCTCCTTCGAGAAAATTTAG___GTGGCAATTCTCGGACTGCAATGGTTGCTGCTCTGAGCCCCGCGGATATCAACTACGATGAGACTTTGAGCACTCTGAG___ATATGCAGATCGTGCAAAACAAATTAAATGCAATGCTGTTATCAATGAGGACCCCAATGCCAAACTGGTTCGTGAATTAAAGGAGGAGGTGACACGGCTGAAGGACCTTCTTCGTGCTCAGGGCCTGGGAGATATTATTGATA___TTGATCCATTGATCGATGATTACTCTGGAAGTGGAAGCAAAT___ATCTGAAAGATTTTCAGAACAATAAGCATAGATACTTGCTAGCCTCTGAGAATCAACGCCCTGGCCATTTTTCCACAGCATCCATGGGGTCCCTCACTTCATCCCCATCTTCCTGCTCACTCAGTAGTCAGGTGGGCTTGACGTCTGTGACCAGTATTCAAGAGAGGATCATGTCTACACCTGGAGGAGAGGAAGCTATTGAACGTTTAAAG___GAATCAGAGAAGATCATTGCTGAGTTGAATGAAACTTGGGAAGAGAAGCTTCGTAAAACAGAGGCCATCAGAATGGAGAG___AGAGGCTTTGTTGGCTGAGATGGGAGTTGCCATTCGGGAAGATGGAGGAACCCTAGGGGTTTTCTCACCTAAAAAG___ACCCCACATCTTGTTAACCTCAATGAAGACCCACTAATGTCTGAGTGCCTACTTTATTACATCAAAGATGGAATTACAAG___GGTTGGCCAAGCAGATGCTGAGCGGCGCCAGGACATAGTGCTGAGCGGGGCTCACATTAAAGAAGAGCATTGTATCTTCCGGAGTGAGAGAAGCAACAGCGGGGAAG___TTATCGTGACCTTAGAGCCCTGTGAGCGCTCAGAAACCTACGTAAATGGCAAGAGGGTGTCCCAGCCTGTTCAGCTGCGCTCAG___GAAACCGTATCATCATGGGTAAAAACCATGTTTTCCGCTTTAACCACCCGGAACAAG)CACGAGCTGAGCGAGAGAAGACTCCTTCTGCTGAGACCCCCTCTGAGCCTGTGGACTGGACATTTGCCCAGAGGGAGCTTCTGGAAAAACAAGGAATTGATATGAAACAAGAGATGGAGAAAAG___GCTACAGGAAATGGAGATCTTATACAAAAAGGAGAAGGAAGAAGCAGATCTTCTTTTGGAGCAGCAGAGACTG|AAATACCTGCTCCCCCTCATCCTGGGCGGCCGAGAGGACAGAAAGCAGCTGGAGAGGATGGAGGCCGGTCTCTCTGAGCTGAGTGGCAGCGTGGCCCAGACAG___TGACTCAGTTACAGACGACCCTCG(CCTCCGTCCAGGAGCTGCTGATTCAGCAGCAGCAGAAGATCCAGGAGCTTGCCCACGAGCTGGCCGCTGCCAAG___GCCACCACATCCACCAACTGGATCCTGGAGTCCCAGAATATCAACGAACTCAAGTCCGAAATTAACTCCTTGAAAGGGCTTCTTTTAAATCG___GAGGCAGTTCCCTCCATCCCCATCAGCCCCGAAGATCCCCTCCTGGCAGATCCCAGTCAAGTCACCGTCACCCTCCAGCCCTGCGGCCGTGAACCACCACAGCAGCAGCGACATCTCACCTGTCAGCAACGAGTCCACGTCGTCCTCGCCTGGGAAGGAGGGCCACAGCCCCGAGGGCTCCACGGTCACCTACCACTTGCTGGGCCCCCAGGAGGAAGGCGAGGGGGTGGTGGACGTCAAGGGCCAGGTGCGGATGGAGGTGCAAGGCGAGGAGGAGAAGAGGGAGGACAAGGAGGACGAGGAGGATGAGGAGGATGATGATGTGAGCCATGTGGACGAGGAGGACTGCCTGGGGGTGCAGAGGGAGGACCGCCGGGGCGGGGATGGGCAGATCAACGAGCAGGTGGAGAAGCTGCGGCGGCCCGAGGGCGCCAGCAACGAGAGTGAGCGGGACTAGGGCTGCGCCTGCTGCCTCCAGCCCTGAGGATGGCATCTAGTGTGCCCGTGCGTGGCCATACCCTGCCTCCCTCTCTGGCCCTGGGAGGGCAGCTTGGAGCCCAGGTAGGGGGCAGAGCTGTCCTCAGCTGCACTGCGGCCTGGTGGCAGTGTGGGGAGTCACACTTCTGTCCACCTGGCCTCCTCTCGCCTGGCCGCCAGCCCCAGCCCCAGCCCCAGCCCCAGGCCCAGCTGCCTTTGGCTTTGATCTCAAGTCAGGCTGAAGGCAGCGAAGCCTCGGGGCCCAAGCCCCTCCCCAGCCCCCTCTCCCGGACAGACGCCTTGCCCAGGGTGTGTTTGCTGAGTGTCTTGACTACCGTGACACCACGCATGGCCAGAGCTAGCGTCCCTACTGCCTCCCGACTCCTCAGTGGAGGAGGAGCTGCGGTCCCTCTGGTGTCTGCCATCCCCCTCCCTCCCTGGGCCCGGCCCTGGACCCGTCAGGTGCCTGTCCCCAGCCCCAACCCCACTCATGCCCCGTCGTCCTCCCAGACAAATGAAACCACGCTGCGCTTCCGATGCCCCCGCTTGCCGTGTAATGGTTCAGCTAATCCCATGGCGAGATGGGGGCTCACTCCGGAGGAGGAGCCAGGCAGCAGGGCCTTCCTGACCAACAGCCAGCTCTGTCCTTCCCCCCAGGAAACACATGTTCATTTGTGTGATCATGTATAGACCTCAGAACGGAAGATAGGACTGTATATAATTGTAATAAATACCAGTTGCCACTATTTAA)$ MSGASVKVAVRVRPFNSRETSKESKCIIQMQGNSTSIINPKNPKEAPKSFSFDYSYWSHTSPEDPCFASQNRVYNDIGKEMLLHAFEGYNVCIFAYGQTGAGKSYTMMGKQEESQAGIIPQLCEELFEKINDNCNEEMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYTDIADLMDAGNKARTVAATNMNETSSRSHAVFTIVFTQKKHDNETNLSTEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEVDNCTSKSKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIKCNAVINEDPNAKLVRELKEEVTRLKDLLRAQGLGDIIDIDPLIDDYSGSGSKYLKDFQNNKHRYLLASENQRPGHFSTASMGSLTSSPSSCSLSSQVGLTSVTSIQERIMSTPGGEEAIERLKESEKIIAELNETWEEKLRKTEAIRMEREALLAEMGVAIREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGQADAERRQDIVLSGAHIKEEHCIFRSERSNSGEVIVTLEPCERSETYVNGKRVSQPVQLRSGNRIIMGKNHVFRFNHPEQARAEREKTPSAETPSEPVDWTFAQRELLEKQGIDMKQEMEKRLQEMEILYKKEKEEADLLLEQQRL|KYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQVEKLRRPEGASNESERD* 01BR027 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 11 0 24 33 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream . CTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTG(CCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR027 ENSG00000153317.15 ENSG00000172164.15 -/- -/- chr8:130358017 chr8:120693908 CDS/splice-site CDS/splice-site deletion 14 7 0 70 28 high out-of-frame . BAR_domain_of_APPL_family(100%)|PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),PH_domain(100%) . . ENSG00000153317.15 ENSG00000172164.15 ENST00000518721.6 ENST00000395601.7 upstream downstream duplicates(1),mismappers(2) ^(ACATGGTCGCCCGCCCCTTCCTGCGCCGCGCTCGGCTCCCGCGCCTCGCCTGGCCTGGCCGCTGCCGCGGGCGAGCACTGTGCGCTGGGCAGCCCCGGGCCCGCGCCTCCCGCCCAGCCGGCGCTTCCCGGTCGCAGTTCGCTTTCCCACCCGAGAGCCGCGAGCGCCCGGCCGAACCCGCGATGGAAT)AATGCCCAGCGGCCCGCCAGGTCCCG___GTCGTTTTCTGATGTGACGGCTGAGACATGAGATCTTCAGCCTCCAGGCTCTCCAGTTTTTCGTCGAGAGATTCACTATGGAATCG___GATGCCGGACCAGATCTCTGTCTCGGAGTTCATCGCCGAGACCACCGAGGACTACAACTCGCCCACCACGTCCAGCTTCACCACGCGGCTGCACAACTGCAGGAACACCGTCACGCTGCTGGAGGAG|TGAAGTACATGCGAGAAGCCACGCCCTATGTGAAGAAAGGATCCCCAGTATCCGAGATTGGGTGGGAAACACCTCCGCCTGAATCCCCTCGGTTAGGGGGCAGCACCTCAGAgCCCCCGTCATCGCAGTCCTTCTCCTTCCACAGAGACCGGAAAAGCATCCCCCTCAAAATGTGCTACGTCACTCGGAGTATGGCCTTGGCCGACCCTGAGAACAG___GCAGCTTGAAATCCACTCTCCAGATGCTAAGCACACGGTGATCCTAAGGAGCAAGGACTCAGCCACGGCCCAGGCATGGTTCAGTGCC(ATCCATTCCAACGTTAATGACCTGCTGACCCGAGTGATTGCTGAGGTCAGAGAGCAGCTGGGGAAAACAGGCATTGCTGGGAGCCGAGAGATTAGGCATCTTGGCTGGCTTGCAGAAAAG___GTGCCAGGGGAGAGCAAGAAACAGTGGAAACCAGCCCTGGTTGTGCTGACTGAGAAAGACCTTTTAATCTATGACAGCATGCCACGGAGGAAGGAAGCCTGGTTCAGCCCAGTTCACACATACCCTCTTCTTGCCACCAG___GCTGGTCCATTCAGGTCCAGGAAAGGGATCACCCCAGGCTGGTGTGGATCTGTCCTTTGCAACGCGAACTGGTACCAGGCAAGGGATTGAAACACATCTCTTCAGAGCAGAGACCAGCAGGGACCTCTCCCACTGGACAAGGAGCATAGTACAGGGTTGCCACAATTCTGCTGAACTCATTGCTGAAATCAGCACTG___CTTGCACCTACAAAAACCAGGAGTGCCGTTTGACCATACATTATGAGAATGGATTTTCTATTACCACTGAACCACAGGAGGGTGCCTTTCCCAAGACCATCATACAGTCTCCTTATGAAAAGCTCAAAATGTCTTCAGATGATGGAATCAGGATGCTGTATTTAGATTTTGGAGGCAAAGATGGAGAGATT___CAACTGGACCTTCATTCCTGCCCCAAGCCAATTGTTTTCATCATTCATTCCTTCCTGTCAGCTAAGATTACAAGACTGGGCTTGGTGGCCTGAAGACAGGGGTGACTTGCCTTTGAGAAAAGAAGGGCTGCAATGCCACCAGAGAACGTGATGTCAGACACCATCTGTAGTGAGCAGCGCACCAGATGTAGCGTGCTACAGTCAGCTTTAGCTCTCAAGAGTCGTATGTAACTGTCCCAGACTCCTCTGTCAGTTTCAGCAACTACAAGGGATACCCTGCGAAAGTACCATGAGAAATATCAGAGTAAAACTTTCTAGAACAGTACAAGGTTAAAGAGGTGAGGTGACGGGAAATACACAGCATAGCTTTGAAATAATGACAACCAAGGACATGACCATTAGAACAGCATGTGCAGATCTTAATCATCCCAGTTCCTAGGCAACTTGTTCACCAGGTACGCAAGGGCCGAATAGTTGAGAAATGGACATTCTTACCTACTCCTCCTAGCCCCCTATCCCCAGTAACAGTGATCCCTTTTCTTATTGTGATTTATTTCCTAATTCTTGCTGAGTTGACTTTCCCTTGTAGGAAAAGAAAAATATTTCAAATAGAAACCCACCTTTTATTTAAGTATGAAGCAGCTGTTACTTTTTAAAAAATGAATTATCTTTCAATGGTGTAGAATGATTCCAAAGTGTCTCCATTAGCATATACTGAGCAGGAATTAAATAAAGCATCAGATACTGATCTGAGCTGTAAGCTGGTAGAATCTGAGCCAAAGTAGACTGCTTAAATTGATAAGCTTTGCTAAAGAGTTGTATGCACAAAGGATGATTAATTCTGGGACTATACTCACACCAAGGTCTGCTGTCTTATAGCCAAGAATTACAGCTTTATTTATAGAGAGTGAATTATGGGTATTTTTTCAGAAAATATTGTCATCTGATATACACATAAAACAACTCACATTGTTGGAGTTAACTAATTATCCCCATTTCATGGTTTTCAGTGGCAACTTACTGACCCTTGTTTTTGCCTGTGCTTGTATGCATGCATTTTCAAGCAAGTAATAAAGCAGCCTCATTTAATTCTGGATAATGCTGGGTTTTACATATAGACTGAATGCTATAATCAAATCTATTGACAGTATCTGCAGTTCTTTCAGAATTCCAGGGAAATAATATAACGACCTGATATCTTTCTACAGGAATATTTTCAGACATTATATAGCACATTACTGATTTAATGCTTTTACTTTTATCTTTCAAAACAAATTCACTAAAAATAACACCTATTGATTTTGAAGTCACTTTTCTCAAACCTTGAAAATGAGCTCTAGGATCTCTATAAACATTTCTAACACTTTTCCTGTAGTTTACATAGACAGACATCTGTTGTTAGACCTGTGTGTTTTTAAAGAATCATATGTTAACAAATACCCATGCAAAGAGCTTCAAAAAGTGAAACCGTGTTAAAGGAACACAATTTTTCTCACTCAGACATATTTGTTTATTGAATTGCAAAGTTTTATTTTAAATCAGCATTTCCCCAAAGAATATATCATATGACGCTAGTTCCAAGGGGCTTGACTGAGTGGTGTTTTGCTGGGGGGAGACAGGGGTTTGTTAATACACTTTACTAAATACTGAGCTGAAAAATGTTAAATAGATTTCACGATTGCCTCCTTGAAGATTTTAAAGTTCATTGTGGTTCTTCAAGGCGAAATCCGGTGAACCATTCCTCACACTTACCTACAGGACTCTTTTCTAATGGAGCATCTTGTGAAGCTAGTGGGTTTTTTTGTTGTTGTTATTTGTTTTTTTTTTTTAATGCTTTAGAAAACACAGCTTTAGGATATTGACTTTTTGTTTATTTCTATTTTCAAATGCTGAAAAGTCAAGTCCCAGTTTGAATACCATAGAAAAGCTTTGATGCATTTGTAAATTATATTGCACTCTTTCACTATATATTTTCAAAATCACTGGAATGTTGTTATACAAGAGAATTATAATTGTGTATTGTAAATAACATATTAAAATACATATATTAATGCCAATAGTTAAATTCAACAATATGTAATCTAAGGTGCTCGGTTCTACATGAAGTATGAGTTAACTGCTCATAATTAAGTTGCCAAGATTCTATTATATATTTATAGACAAATTAAAATGATCATAATTACAAATATGATTTCTTTATCACTTAAGCTTTGGGCTGATTAATATCTGTGTGGGGGTCAATGGAAACTACATTCTCTACATTTATAAACATTTAATTTAATTATTTATATTTTAGGAAAATATATTTGAATAAAATTAATGCATTTTCTAGAGTAAATTAAAATGTTATTAGCAAGAAATAGAAAATTTGACTAAGATAATTGTGTATATGAATCATTTTTCCCCCAAGTTAAAATGTATCATAATAGAGAGGCTCTAATGAATCAATTTCCAATACTCATTTCTTTCTTATTTTGAATTCAAGTTACAATGACTTTACACTGTAGATTTTAATCTTGTCTGATGTGTGCTGGTGTGTATGACACAAACTCATAAGTCTGGATCATGCTTGGGTACAGTCAATGAATCAACCGAGTCACTTTGAGGAATTTGTTTTTGTCCAATTTGCTCTGTGCTCAATCCCATGAATTATTAAATTTACAATGTTTGTCCCCAAATGAAAACCAATATAAATGAATGATGTTTTAATCTGTACTTTATGGGAAGTTGCCTATTTGTCAGTAGATGTGGTTAAGTGAGTCCTCTGGTGCAGTGACATCCTTTTAAGCCATCTCATAGGGATTTAAAGAAGGCCAATAGGAATATAGATATTGGTTTTTCTTTCTCTGACTTGAACTAAGTAGGAGAAACCAAACCATAAACCTATTACAAACTACCCAGGCAGAGGCATTTACTTAATTCATCAACTAGTGCAATTAAAACCCTGAAAACACATGATCCTTGTTGACTCTGCTTGGTTGAAGCAGGAAAGAATGGTCTTGATGGTCAGAAAGTTTTAAAATTAATGGGCAGGGCCTTTCTGGACCCTGTTTTCCAAACACGTTAGATATTCCGTCTTGAGGGGATTGGAGTAGGCTACAGTGAGGGGGTAATTTTTGGATGTATCTGGACTTTTAAAAAATGTGCCTATATTTATAGCACCATGAATATTATGTAAAATTTATATATGAATTAAATAAATATTCACCTCTGATTTCCAGTGCA)$ MRSSASRLSSFSSRDSLWNRMPDQISVSEFIAETTEDYNSPTTSSFTTRLHNCRNTVTLLEE|* 01BR027 ENSG00000136997.20 ENSG00000280441.3 +/+ +/+ chr8:127736623 chr21:8450147 CDS/splice-site exon/splice-site translocation 1 16 2 840 431 high . . . . . ENSG00000136997.20 ENSG00000280441.3 ENST00000621592.7 ENST00000651813.1 downstream upstream . ^(AACTCGCTGTAGTAATTCCAGCGAGAGGCAGAGGGAGCGAGCGGGCGGCCGGCTAGGGTGGAAGAGCCGGGCGAGCAGAGCTGCGCTGCGGGCGTCCTGGGAAGGGAGATCCGGAGCGAATAGGGGGCTTCGCCTCTGGCCCAGCCCTCCCGCTGATCCCCCAGCCAGCGGTCCGCAACCCTTGCCGCATCCA)CGAAACTTTGCCCATAGCAGCGGGCGGGCACTTTGCACTGGAACTTACAACACCCGAGCAAGGACGCGACTCTCCCGACGCGGGGAGGCTATTCTGCCCATTTGGGGACACTTCCCCGCCGCTGCCAGGACCCGCTTCTCTGAAAGGCTCTCCTTGCAGCTGCTTAGACGCTGGATTTTTTTCGGGTAGTGGAAAACCAG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCG(AGTAGCTGGAATGACAGAGATGAGCCATCGTGCCCGGCTAATTTTTCTATTTTTACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ . 01BR027 ENSG00000120727.13 ENSG00000120727.13 +/- +/+ chr5:139365870 chr5:139368734 intron CDS/splice-site inversion/3'-3' 8 11 0 52 276 high . . |Ataxin-2_C-terminal_region(100%) . . ENSG00000120727.13 ENSG00000120727.13 . ENST00000265192.9 upstream upstream . CTGGGATTACAGGCACGCACCACCACAcCCAGCTAATTTTCTGTATACTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCGTGATCCGCGTGCCTCGGCGTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCACCCAGCCAAGACAAGATTAAAGAGCAAAACTTCTCCATCAAGCTACTTtTGTATAGG|TCAAGAGCAATCTGAATCCAAATGCAAAGGAGTTTGTTCCTGGGGTGAAGTACGGAAATATTTGAGTAGACGGGGCCCTCTTTTGGTGGATGTAGCACAATTTCCACACTGTGAAGGCAGT(ATTAGAAGACTTAATTGTAAAAGCTCTCTTGTCACTGTGTTACACTTATGCATTGCCAAAGTTTTTGTTAGTCTTGCATGCTTAATAAAAGTGCTGAGACTGTTACTAAGTAAAAAGCTGTCAAACATTTACTGAAAATAGAATTGGCCCCATGGCTTGATGTGAAGACAGCAAGGAAAGAAGCACCAGTCAAGTTGTGAACAAGCACCAAATTAAAAGACCTAAACCTTACCAAATTGTCTTTTTTTGAGGCTAATCTATCACTTGTTAATGTCTAAACTTTAAAATCAGTACATTTAATTTGAGTTCCAACTGTTAAGCATATTTCTCAGACTTAAATTTGATTATGTCCCCATCAAAAAGAATCTCCATTTTCTGAAGGTCTGTTAGTTAATTTGAGATAATTTGTTAAAGGCAAGTATGTCATATTACTGAGGCTACAAGTTAGTCAGCAGATGAGTGCCAGTCCAGCCTTTTCTGGTATGTTATTGTTAGAAATATTGAGTTCTAATGTTACATCTGAGGAAGTATGTAATTTGAGAATTGTAACTTCTAAGGGATTCACTGCATCATAGCTATGCCTGTATGGAGTCTAACATATGACCAATACCAACCCATAATCCAGCTGAACAAAGATACTGTAACATGATTTGAGTGGTGCTTTTCCTTGCTTTGTTAACCATCACGAGAGTCTGCAGCACAACTTTTAACAAAGCTAGAACAGTTTTGGCTTCTTAAACTTCATATTTGGGTAGGTTAAGCTGCCATACGTGTTCAGTGTGAATAGTGTTTAAGTTGAAAATATTGTAAAAAAATTATATTTTTTCAAAAATATTTAAAAAAATAAATAATAGTAGAACTGA)$ . 01BR027 ENSG00000272742.1 ENSG00000120727.13 -/- +/+ chr5:139365870 chr5:139368734 intron CDS/splice-site inversion 8 11 0 52 276 high . . |Ataxin-2_C-terminal_region(100%) . . ENSG00000272742.1 ENSG00000120727.13 . ENST00000265192.9 upstream upstream . CTGGGATTACAGGCACGCACCACCACAcCCAGCTAATTTTCTGTATACTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCGTGATCCGCGTGCCTCGGCGTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCACCCAGCCAAGACAAGATTAAAGAGCAAAACTTCTCCATCAAGCTACTTtTGTATAGG|TCAAGAGCAATCTGAATCCAAATGCAAAGGAGTTTGTTCCTGGGGTGAAGTACGGAAATATTTGAGTAGACGGGGCCCTCTTTTGGTGGATGTAGCACAATTTCCACACTGTGAAGGCAGT(ATTAGAAGACTTAATTGTAAAAGCTCTCTTGTCACTGTGTTACACTTATGCATTGCCAAAGTTTTTGTTAGTCTTGCATGCTTAATAAAAGTGCTGAGACTGTTACTAAGTAAAAAGCTGTCAAACATTTACTGAAAATAGAATTGGCCCCATGGCTTGATGTGAAGACAGCAAGGAAAGAAGCACCAGTCAAGTTGTGAACAAGCACCAAATTAAAAGACCTAAACCTTACCAAATTGTCTTTTTTTGAGGCTAATCTATCACTTGTTAATGTCTAAACTTTAAAATCAGTACATTTAATTTGAGTTCCAACTGTTAAGCATATTTCTCAGACTTAAATTTGATTATGTCCCCATCAAAAAGAATCTCCATTTTCTGAAGGTCTGTTAGTTAATTTGAGATAATTTGTTAAAGGCAAGTATGTCATATTACTGAGGCTACAAGTTAGTCAGCAGATGAGTGCCAGTCCAGCCTTTTCTGGTATGTTATTGTTAGAAATATTGAGTTCTAATGTTACATCTGAGGAAGTATGTAATTTGAGAATTGTAACTTCTAAGGGATTCACTGCATCATAGCTATGCCTGTATGGAGTCTAACATATGACCAATACCAACCCATAATCCAGCTGAACAAAGATACTGTAACATGATTTGAGTGGTGCTTTTCCTTGCTTTGTTAACCATCACGAGAGTCTGCAGCACAACTTTTAACAAAGCTAGAACAGTTTTGGCTTCTTAAACTTCATATTTGGGTAGGTTAAGCTGCCATACGTGTTCAGTGTGAATAGTGTTTAAGTTGAAAATATTGTAAAAAAATTATATTTTTTCAAAAATATTTAAAAAAATAAATAATAGTAGAACTGA)$ . 01BR027 ENSG00000011105.14 ENSG00000283297.2 +/- -/- chr12:3276010 chr12:2849525 intron CDS/splice-site deletion/3'-3' 3 13 0 31 51 high . . . . . ENSG00000011105.14 ENSG00000283297.2 . ENST00000637658.2 upstream downstream duplicates(1),low_entropy(1),mismappers(2) TaGGGACGACTCATACCAGGAGGCTACGGAGGAGCG|GTACCGGCACATATCCGCTGGTGGGAGGTTTGAACCCCAGGGCCTCCAGCTCATGCCCAACCCGTTTCCCAATAATTTCGCCAGGAGCTGGCCCTGCCCAAACCCTCTGCCTCACTACCAGGAGAAGGTGCTAAAGCTGGCCTTGCTGCCCAGCGCGCCCCTGAGCCAGGACCTCATAAGGGATTTCCAAACCCTGATAAAGGACAGAACTGCCTTACCCCTCCACCATCTCTCCAA(GGCACAAGCAAGCAAATCCCCAGCAAGGAAGAGGAAGAGAAGACCTGGACACTTCTAGAAGGGCTTCCAGAGGGGACGATCGTGATACCCAGAGCCCCAGGCTCCAGTGTTCTCAATCAATGCTCCTTCAGCAAGAGGCCCTGGGGTAGCAAAAGGACTCTGGCTTCTGCAGAACAGCCTCTCCACCATCCTCCCAGCCTCAAGCCACCTCTGTACCCCAGGCTATTGGAGATTCAACTGAAA)$ . 01BR027 ENSG00000010803.16 ENSG00000127124.16(25921),ENSG00000287587.1(91300) -/- ./+ chr1:41186121 chr1:41944843 CDS/splice-site intergenic inversion 1 13 2 61 27 high . . . . . ENSG00000010803.16 . ENST00000372597.5 . upstream upstream . ^GCGGAAACATGGCGGCGGGAAGgGAGTGAGCCGCCCCGCGCCCCCGCCGCGCCCTCAG___ATGGAGAAATTAGCATACAAAGAAACTGACTTGTCAGAAGTCAGAGCAAGGTATTGGTGGATCCAGGGATAAATCCCAAACTTCTTAACCCCTAGACCGGTTTTTAGTCCATTGACTATGCAGCCTAATG|ATGGGAAACATTCCCCCCAAGGCAAAAACACCCTGAAGATATATTCTGGAGAACTGGGGCCAATTTGACCCTCAGACGCTAAGAgAGAAACGATTTATATTCCTCTGCAGTACTGCCTGGCCACAATATCCTCTTCAAGGGGGAGAAACCTGACCTCCTGAGAGAAGTATAAAT . 01BR027 ENSG00000123124.14 ENSG00000165071.14 +/+ -/- chr8:86342930 chr8:132727986 5'UTR/splice-site CDS/splice-site inversion 3 12 0 36 69 high . . . . . ENSG00000123124.14 ENSG00000165071.14 ENST00000517970.6 ENST00000356838.7 downstream downstream . ^(ATTCCGGGTCCGGAGTTGGAGGCTTTGGGCGGCCGCGGCGTAGCGCGCGGTGCCGGGGCCGGCGGGGAGGCGCGCGCTTAGGGCGCGGCGCCGGCGACGCGGCCACGCGGCGCGCTCCCGAGGAAGGGAGGTGTGGGGTCGGCTGGGGGTGGCGCGTGGACGGGGTGGGGGTGGGGGGAGGGTCGGGTGTCGGCGAGCTCCGCGTGCGGGTTCCGAGTGGCTGCTGGCGGCCTGGGCTGCCGGGGCCGACGCCTGGGTGGCTGCTGCCGCCGCGCCTGCTGCGAGAT)GGCGATCTTGGGCGCGGAAGGGTGAGGGCGCCCGCCGCAGGAGGAGGTGCCGCTGCCGTGGCCGCCCGGCTGCCGGGAGCCGACAGCTTCGCGCCGG|CAGATGATTTAGACTGTTCTTCTCTGACTGATGACTGGGAGTCAGGGAAGATGAATGCAGAGTCTGTGATCACCTCCTCTTCCAGCCACATCATATCTCAGCCTCCTGGAGGAAACTCCCATAGCTTGTCTCTTCAGTCCCAGTTGACAGCTTCTGAACGTTTCCAAGAGAATAGTTCGGATCATTCAG___AAACCAGGTTGTTGCAAGAGGTCTTCTTTCAGGCAATCCTGCTTGCTGTGTGCTTAATCATTTCTGCATGTGCAAG___ATGGTTTATGGGAGAAATATTAG(CCAGTGTCTTCACATGCTCATTGATGATAACTGTAGCTT___ATGTGAAATCATTGTTTCTCAGCCTTGCCAGCTATTTCAAAACCACTGCCTGTGCTCG___GTTTGTCAAAATTTGACAACCATTTAGGAATGCCTTCGATGAATGTCCTCCATCTGAATATCTGGAAATTGTCCAACTTGCAGTCTACTTGGAATCAAGTGTTTTATTGGAAGGGAGTAAGCGAGTAATGGAGAAAAAGCCATTTTAGTTTGACTATGTGATTTTAAAATGATCTCAGTTTTTCCATCAAAATTATAATATGCTCATGAAAATAATATTAATTTGCCTTCCCTTTGCAAACACCGGCAGTTGAAAGGAAAAGGACGGGGAATGTGATGGAAAAGAGACCGCCTGGAATAAATGTCCCCCTATGATTCTTTAAGGCAGTGGTTCTCGAGCTTGAATTTTCATTAGGAAATTCTGTGAGGAGCTTGTAACCAGATTTCTGGGTCTGCCACATGCACCTATCTCTTGCTGAATTGCTTTAATAGAATAATGAGAGCAAGTTTGTCTAACTAATACCAACCTGACAACTTGAATAACAATAAATGCAATTTGTACATAAAATATAATGCTGCAAAAGTTTGTCATTCACCTCAGTGGAGTGACTTGATATTAGGTGGTAACCGTAGATGATGGTTAATATGAAAATGGACAGGAAAGAAGCATTTTCTGAAAGTTATATTCTTTTGAACCACGTTCTAAACCAAGTTTTTAATCTTCTTGGGGCTCGTAATTACCTTTCACTTTAATGTCACTTAAAGATATAACACAGAAAAATGCCTTGAGGGCAAAATATAGGCAAAACACCAATGCGCTTTCAAATGCATGAAAATGGTGCAGTTGTACCCTTGAGCCTTGACTCAAGGGCTGTAGATGTTCCCTTTCCACCCCCCACACTTGGTGCGTGTTCACAAAGCAAATATGGCCTGTAATTCAAATTTGTTCTATGTGATACTCTCTGAGTAAAAACTCATACATGCAGAAAATTGTCTTTGCTCGAAATGATAATGCCAAAATATAACTTTATATATAATTTGCATTTAGTACATTTTTGGTTAAAAAATAAACTAATAAATAAGTGAAGTCATCAGC)$ . 01BR027 ENSG00000090861.16 ENSG00000261777.6 -/- -/- chr16:70289421 chr16:70333960 5'UTR/splice-site exon/splice-site duplication 4 10 0 106 57 high . . . . . ENSG00000090861.16 ENSG00000261777.6 ENST00000261772.13 ENST00000562077.5 upstream downstream duplicates(1),mismatches(1) ^(ACAGCTGCGCGTC)TGCGGGAATAGGTGCAGCGGGCCCTTGGCGGGGGACTCTGAGGGAGGAGCTGGGGACGGCGACCCTAGGAGAG|GAGCTGGAGGCTGCCCCATCCACTCCAAGCCAGAGAACAAGCAGAGGCTGCCACAGGAGATCCTGGGCAAGTAATCAGCCACAGCATCTAGATTAGCATGAAGGAAACACTGGCCAAATTAAAAGATGAAACTTCCAAAAG(___AGTCTCGATCTATTGCCCAGGCTGCAGTGCAAAGGTGCAGTCTCGGCTCACTGCAACATCCACCTTCCGGGTTCAAGCAATTCTCGTGCCTCAGCCTCGCGAATAGCTGGGATTACAG___TGCAAAGGGGAAGAGTCAGAAGGTGAATAAATACTCACAGCCGAAGCTCTTCAAAAGACTTCACCGAGTACAGAGGGGAGTTTGGATCCCGCTGCAGGACTTCCACTTGGTTTGTGTTATCAACAAGGTTGCTTCTGATCAGCTTGTTGAGTAAGGACTGGGCAGCTCTGTCCTCTGTCAGGAAAAAGAAAGCAAAGAATTTTAAAAAGTCCTTGAAACCTACCAGGCGTTTACTCTAATTCAACTGCCATTTGTATTTTAAATAATAATGTACTGAACATTCAAATTCAAGGTACGTCATAGTTTTGACTTATAAATTAAAATAGTTTTATTAAAGAAAAAAGTTATGATACATCACCCATTTAGGCCTCATATTCTTTTCCAGACTCTATTCTAACAGCCCTCTTTTCCTGCAGTTATCTATTCCTCCTATCCAGACCCACATATTTACTCCCCAATTTGTACTATATATAAACCTAAAGTAATTAATGTAGCAATCACAA)$ . 01BR027 ENSG00000015171.19 ENSG00000151240.17 +/+ -/+ chr10:180128 chr10:485914 CDS/splice-site intron deletion/read-through/5'-5' 3 10 0 162 19 high out-of-frame . . . . ENSG00000015171.19 ENSG00000151240.17 ENST00000397959.7 . downstream upstream . ^(AGTGTTCTTGCAGGGCTGCTGATGGGTGGTCCTGTTCTTTTCGCGGTCCTGTTTGCGCAGAGATGAAACGGGGAACTTAGCGTATCCCTACCGCTCTTTTTGATGACAGGAGTAAAGGGCTGTTCAGACTACCTAAACAATGTTGTTAAGAGAAGCACTCGTACTTCTCAGACTTCGCTGTTCCGGACCCCGCGAGCCAGGGGCAGGCACCGGGTCCACCCGGGGCTGAGCTGCGGCGGCGCCTGACAATGCCCCCTCGCGCCCCGGCCTCGGCGCCCGCTCCCGGCTCCAGCGCGCCTGCACGTACGTAGCCTTCACGTGTGTGTGGATACGGAGTGCATGTGTGGAGACAGAGGAATATGCTCCAACAAATTTCGGATAGAGGCGCCGAAGACAGGACGTGGGGAAG___CTAAAGAAGTAAACA)GGTCATGGCACGTTTAACAAAAAGACGACAGGCGGATACAAAAGCTATCCAGCATCTTTGGGCAGCCATTGAGATTATACGGAACCAGAAGCAGATTGCCAACATTGACCGTATTACAAA|AACCCAGCTCAAGTGCAGGAAAGCTGCCAATCTGCACACGTAGAAACGCTGGCGGGAAACCGACTGCCCTTCTCAAGAATCATCATGGATGTTTGCAACCACATCTCAACACACAACCAGCTTTCACGATTGCCAAGTCCTGGGCGGGGTATCACAGCACTGTCTAGATTTGGCCTGTGCCACCAACAGAAGCCTTGGATTAAAC MARLTKRRQADTKAIQHLWAAIEIIRNQKQIANIDRITk|tqlkcrkaanlht* 01BR027 ENSG00000118873.16 ENSG00000162813.18 -/- -/- chr1:220182257 chr1:220069432 CDS/splice-site CDS/splice-site deletion/read-through 6 7 0 36 134 high in-frame . Rab3_GTPase-activating_protein_regulatory_subunit_C-terminus(100%),Rab3_GTPase-activating_protein_regulatory_subunit_N-terminus(100%)|Inositol_monophosphatase_family(100%) . . ENSG00000118873.16 ENSG00000162813.18 ENST00000358951.7 ENST00000469520.6 upstream downstream duplicates(1),mismappers(1) ^(GTTTCTCCGCCTTCTGCTTGGCTAGAGCTATTGGGGCTCGGTGGCGGCCGCAGTGGGGTGGAGGGGGCAGGGCGTGGTGAGGTAAGGTGAGTGCCGTAGTGGGGTTCCCTGGAGCCATGGCCTGCTCCATTGTCCAGTTCTGCTACTTCCAGGACCTCCAGGCCGCCCGGGACTTCCTCTTTCCTCACCTGCGGGAGGAGATCCTCAGCGGCGCCTTGCGGAGGGACCCCA___GTAAATCAACAGACTGGGAAGATGATGGTTGGGGAGCATGGGAAGAAAATGAACCACAAGAACCT___GAAGAAGAAGGAAATACTTGCAAAACACAAAAAACTTCCTGGCTCCAAGATTGTGTTTTATCCTTATCTCCAACCAATGATCTTATGGTGATAGCTCGAGAGCAAAAAGCTGTATTTCTAGTGC___CAAAATGGAAATATAGTGATAAAGGAAAGGAAGAAATGCAATTTGCTGTTGGCTGGAGTGGTTCCTTAAATGTCGAAGAAGG___GGAATGTGTAACCAGTGCTCTATGTATCCCACTAGCAAGCCAAAAGAG___GAGTTCCACTGGGCGTCCTGACTGGACCTGCATTGTGGTGGGTTTTACTTCAGGTTATGTACGCTTCTACACTGAG___AATGGTGTGCTCTTGCTTGCACAGCTTTTGAATGAGGACCCAGTACTTCAACTTAAATGCAGAACCTATGAAATACCACGACATCCCGGCGTGACTGAGCAG___AATGAAGAGTTGAGTATCTTATATCCAGCTGCCATTGTGACTATTGATGGATTTAGCCTTTTTCAATCTCTTCGTGCTTGTCGAAATCAGGTAGCAAAAG___CTGCAGCATCAGGCAATGAGAACATACAACCACCACCATTAGCTTATAAGAAATGGGGTCTACAAGATATTGACACTATTATTGATCATGCTAGTGTTG___GTATTATGACTCTGTCCCCCTTTGATCAAATGAAGACTGCCTCCAATATAGGTGGATTTAATGCAGCAATTAAAAATAGTCCACCTGCCATGTCTCAGTATATCACTGTAGGGTCCAATCCATTTACTGGCTTCTTCTATGCTTTAGAG___GGAAGCACACAACCATTATTATCCCATGTTGCACTAGCAGTTGCAAGTAAACTCACTTCTGCTTTATTTAATGCTGCCAG___TGGTTGGCTTGGTTGGAAAAGTAAGCACGAAGAAGAAGCTGTCCAAAAGCAAAAGCCGAAGGTTGAGCCAGCTACCCCATTAGCTGTAAG___ATTTGGACTTCCAGATTCTAGACGCCATGGTGAAAGCATATGTCTGTCTCCATGTAACACACTGGCAGCAGTAACAGATGATTTCGGCAGAGTTATTTTATTGGATGTAGCTAGAGGAATTGCAATACGCATGTGGAAAG___GGTACCGCGACGCACAAATTGGATGGATTCAAACTGTAGAGGACCTCCATGAAAGAGTGCCAGAAAAGGCAGATTTTTCCCCCTTTGGAAATTCTCAGGGTCCAAGTCGAGTAGCTCAATTCCTTGTGATCTATGCGCCAAGAAGGGGAATTTTAGAAGTGTGGAGCACACAGCAGGGACCTAGAGTAGGAGCTTTCAATGTGGGGAAGCACTGCAG___GCTGCTGTATCCTGGCTATAAAATAATGGGTTTAAATAATGTTACCAGTCAGAGTTGGCAGCCACAGACTTATCAGATCTGTCTGGTTGATCCAGTGTCTGGAAGTGTGAAAACAGTGAACGTTCCCTTCCATTTAGCACTGAG___TGATAAGAAGAGTGAACGAGCCAAGGATATGCACCTAGTGAAGAAACTAGCAGCCTTACTGAAAACAAAATCTCCCAATCTTG___ATTTGGTTGAAACAGAAATAAAGGAATTAATTCTTGATATTAAATACCCTGCAACCAAAAAACAA___GCTTTGGAAAGCATTTTGGCAAGTGAACGTTTACCATTTTCTTGCCTTAGAAACATCACTCAGACTTTAATGGACACTTTAAAAAGTCAAG___AACTTGAGTCTGTTGATGAAGGATTGCTACAGTTTTGTGCCAATAAACTAAAACTGCTGCAACTCTATGAGTCTGTCAGTCAATTAAATTCCCTTGATTTTCATTTAGACACACCATTCTCTGATAAT___GACTTGGCTCTGTTACTAAGGCTTGATGAAAAAGAACTGCTTAAGCTCCAGGCATTACTAGAGAAATATAAGCAAGAGAACACCAGGACAAATGTTCGATTTTCTGATGATAAAGATGGTGTGTTGCCTGTAAAAACA)TTCTTGGAATATTTAGAATATGAAAAGGATGTGCTCAACATAAAGAAAATAAGTGAAGAGGAATATGTGGCTTTAG___GTAGTTTCTTTTTTTGGAAGTGTTTGCATGGAGAAAGCTCCACTGAGGATATGTGTCACACTTTGGAGTCGGCTGGTCTTAGCCCTCAGCTGTTGTTG|CTCGTGGTCTGGGTTGATCCTCTGGATGGAACCAAGGAATATACCGAAG___GTCTTCTTGACAATGTAACAGTTCTTATTGGAATTGCTTATGAAGGAAAAGCCATAGCAGGAGTTATTAACCAGCCATATTACAACTATGAG___GCAGGACCAGATGCTGTGTTGGGGAGGACAATCTGGGGAGTTTTAGGTTTAGGCGCCTTTGGGTTTCAGCTGAAAGAAGTCCCTGCTGGGAAA(CACATTATCACAACTACTCGATCCCATAGCAACAAGTTGGTTACTGACTGTGTTGCTGCTATGAACCCCGATGCTGTGCTGCGAGTAGGAGGAGCAGGAAATAAG___ATTATTCAGCTGATTGAAGGCAAAGCCTCTGCTTATGTATTTGCAAGTCCTGGTTGTAAGAAGTGGGATACTTGTGCTCCAGAAGTTATTTTACATGCTGTGGGAG___GCAAGTTAACCGATATCCATGGGAATGTTCTTCAGTACCACAAGGATGTGAAGCATATGAACTCTGCAGGAGTCCTGGCCACACTGAGGAATTATGACTACTATGCAAGCCGAGTTCCAGAATCTATTAAAAATGCACTTGTTCCTTAAAGGAAAGTTTCATTTGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAATATCGTGAGACCCCATCTCTACAAAAATACAAATTAACTGGGCATCCTGTCATGCGCCTGTCATCCCAGCTACTTGAGAGGCTGAAGCAGAAGAATCTCTTGAGCCCGGAAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGGAGTTAAGCCCTGTCTCAGAAAAAAAAAAAACAAAAACCCAAAAAGTACTTAAAGTTTCATTTACTTAGCTAGGAGAAAGACTTGGTTCTCAAAATAATACATTTTAAGATTAATTGGGTAGAATTAGAGTTCCACCTTTATTCATTGTTGAGCAGTGATTTATATTTAGTTATTATATTTAGGAATAGAAAATAGAATTAAATAATTTAACTTGATTAATCAACCAGACCAATTTTGACGTCTGGAGAACTTATAAACTCAATATGTTATATTTGTTTTCCTGTATTTAGGTGGAGAAATGAGAAAAAGCTTTAGTTCCAATTGACAGTTCAGGTCAATGTTCAATGAACATTCCTATCTTCTAAACCAGATTTCTCTTTTTTTTTCCTGAGACGGAGTCTCGCTCTGTAGCCTAGGCTAGAATGTAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCACCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGAAGGTGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACATCGTGATCTGTCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTAAACCAGATTTCTTTAGGGCACAATTTTTTCTGGAATCTCACTCTTGTTTTTCACAGTAATTTTAAAAACGTTTCTACTCCAATTAAGAATATATATGATGTTATTATATATGCTTATGAAACAGATTTATGAGAAAAGTTTTTTTTAAATAAATTATTTAATCCTAGCTCTTTGTTATTCACCAGCTTTTTAAAAAAGTGTTTGAAAATTATACATTCTCGACTTTGGGGATTAGTTTATTCTTGTGGCATCATTATAAGGCTTAATTGTGGAAAGCTAAGTACTTGCTTCTATTCCTTCCAATGAGAGATTATAACATAAACTATTAAAATTATTCTGCTAATATACCTAGATTTTTATTTTTAGGTCTCTGTCCATTGCTTTTAATTAAAATTATCTGTTTTCAAATC)$ MACSIVQFCYFQDLQAARDFLFPHLREEILSGALRRDPSKSTDWEDDGWGAWEENEPQEPEEEGNTCKTQKTSWLQDCVLSLSPTNDLMVIAREQKAVFLVPKWKYSDKGKEEMQFAVGWSGSLNVEEGECVTSALCIPLASQKRSSTGRPDWTCIVVGFTSGYVRFYTENGVLLLAQLLNEDPVLQLKCRTYEIPRHPGVTEQNEELSILYPAAIVTIDGFSLFQSLRACRNQVAKAAASGNENIQPPPLAYKKWGLQDIDTIIDHASVGIMTLSPFDQMKTASNIGGFNAAIKNSPPAMSQYITVGSNPFTGFFYALEGSTQPLLSHVALAVASKLTSALFNAASGWLGWKSKHEEEAVQKQKPKVEPATPLAVRFGLPDSRRHGESICLSPCNTLAAVTDDFGRVILLDVARGIAIRMWKGYRDAQIGWIQTVEDLHERVPEKADFSPFGNSQGPSRVAQFLVIYAPRRGILEVWSTQQGPRVGAFNVGKHCRLLYPGYKIMGLNNVTSQSWQPQTYQICLVDPVSGSVKTVNVPFHLALSDKKSERAKDMHLVKKLAALLKTKSPNLDLVETEIKELILDIKYPATKKQALESILASERLPFSCLRNITQTLMDTLKSQELESVDEGLLQFCANKLKLLQLYESVSQLNSLDFHLDTPFSDNDLALLLRLDEKELLKLQALLEKYKQENTRTNVRFSDDKDGVLPVKTFLEYLEYEKDVLNIKKISEEEYVALGSFFFWKCLHGESSTEDMCHTLESAGLSPQLLL|LVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAMNPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP* 01BR027 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 2 0 130 24 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAA)GCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR027 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 5 0 14 19 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . CTTCAAACTGGTGAGCCGAG___...A...___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAG(AAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 01BR027 ENSG00000135945.10 ENSG00000158417.11 -/- +/- chr2:99449336 chr2:99366739 CDS/splice-site intron deletion/read-through/5'-5' 6 4 0 44 15 high out-of-frame . BRCT_domain__a_BRCA1_C-terminus_domain(100%)| . . ENSG00000135945.10 ENSG00000158417.11 ENST00000258428.8 . upstream downstream . ^(GAGCCACCGCGGAGCGCGCGCGGGGTTGGTTGCCGCGAGCGTGGGGGAGCGTGGACCGCGGCGCTGCTCAGCGGTGGGGCTGCCTTCCCCCGGCCCTCCTCCCTGGTCCCTGGCGAGGGCACTGGCGGCGGCGGGGCCGGGGTCCGCAAGGCCGGAGAAGGCCGCCGGGCCCGGGCATGGTGGTCTGGGGCAACGCGGAAG___AAGCTCCACCATGAGGCGAGGTGGATGGAGGAAGCGAGCTGAAAATGATGGCTGGGAAACATGG___GGTGGGTATATGGCTGCCAAGGTCCAGAAATTGGAGGAACAGTTTCGATCAGATGCTGCTATGCAGAAGGAT)GGGACTTCATCTACAATTTTTAGTGGAGTTGCCATCTATGTTAATGGATACACAG___ATCCTTCCGCTGAGGAATTGAGAAAACTAATGATGTTGCATGGAGGTCAATACCATGTATATTATTCCAGATCTAAAACAACACATATTATTGCCACAAATCTTCCCAATGCCAAAATTAAAGAATTAAAGGGGGAAAAAGTAATTCGACCAGAATGGATTGTGGAAAG|AACTAGTTGACAGATAGCTACAAAATACCATGCTGTGATTTTGACTGGGATTGAACTGAATCTACAGATTACTGGATTACTGACTCAGTCTCTCACTATGGGCAGAAGCCTTAGAATAAAGACAACAGAAATTGTATACCATGGGATTTTGAATGAAG MRRGGWRKRAENDGWETWGGYMAAKVQKLEEQFRSDAAMQKDGTSSTIFSGVAIYVNGYTDPSAEELRKLMMLHGGQYHVYYSRSKTTHIIATNLPNAKIKELKGEKVIRPEWIVEr|ts* 01BR027 ENSG00000070159.14 ENSG00000213539.4(69886),ENSG00000157654.19(36570) -/- ./- chr9:109457173 chr9:109604218 CDS/splice-site intergenic duplication 5 2 1 65 9 high out-of-frame . FERM_N-terminal_domain_(100%)| . . ENSG00000070159.14 . ENST00000262539.7 . upstream downstream . ^(ATGCTCAGACGGCGGCCAGGTCGCGCCGCGAGCGAGCTTCCGCGCCGCCCGCACGCGCGACCTACCTGGGCGCTCCGCGCCCCCGGATGCTGCAG___GTTATTCAGCGATAGTTATGACCTCCCGGTTACGTGCGTTGGGTGGAAGAATTAATAATATACGCACCTCGGAGTTACCCAAAGAGAAAACTCGATCAGAAGTCATTTGCAGCATCCACTTTTTAGATGGCGTG)GTACAGACCTTTAAAGTTACT___AAACAAGACACTGGCCAGGTTCTTCTGGATATGGTGCACAACCACCTGGGTGTGACTGAAAAGGAATATTTTGGTTTACAGCATGATGACGACTCCGTGGACTCTCCT___AGATGGCTGGAAGCAAGCAAAGCCATCAGGAAGCAGTTAAAAG|AGTTTCAGCTGAGAACAATAGGACGAGACCACCTACGTAGGATGGGCTAAGCATCGTGAGACAGGTGCTGCAGTCCTTTACTCATCACAGTGGGACAAGCCTGAGGATTTGTTAGAGATTGGGAAGTGGGAGCTTTTTAGAAA--GACTTGATGTGCT MTSRLRALGGRINNIRTSELPKEKTRSEVICSIHFLDGVVQTFKVTKQDTGQVLLDMVHNHLGVTEKEYFGLQHDDDSVDSPRWLEASKAIRKQLK|efqlrtigrdhlrrmg* 01BR027 ENSG00000186591.13 ENSG00000106459.15 -/- +/+ chr7:129951278 chr7:129657343 intron 5'UTR/splice-site inversion 1 7 0 7 129 high . . |NLS-binding_and_DNA-binding_and_dimerisation_domains_of_Nrf1(100%),Nrf1_activator_activation_site_binding_domain(100%) . . ENSG00000186591.13 ENSG00000106459.15 . ENST00000223190.8 upstream upstream . GCTCTGTGTGTTTTCAaTCAGTCCCTCCTGTTAAGCTTTCTGGTCCCCGGGAGAACCCTACTGTTTTCCTTTCCACTGACAAAGCCTGTCCCACCCATAGTTGTATGTGATGAAGACCCCCGGGCCCTCCAGCAAGCCACCCTCCATATTGTGG___...TGTTGCAGGGTTTTGTTTATATAACTCAAGTTGTTTGGCTAAATTCTTCAG|TAGAACTTCATGGAGGAACACGGAGTGACCCAAACCGAACATATGGCTACCATAGAAGCACATGCAGTGGCCCAGCAAGTGCAGCAGGTCCATGTGGCTACTTACACCGAGCATAGTATGCTGAGTGCTGATGAAGACTCGCCTTCTTCTCCC(GAGGACACCTCTTACGATGACTCAGATATACTCAACTCCACAGCAGCTGATGAGGTGACAGCTCATCTGGCAGCTGCAG___GTCCTGTGGGAATGGCCGCTGCTGCTGCTGTGGCAACAGGAAAGAAACGGAAACGGCCTCATGTATTTGAGTCTAATCCATCTATCCGGAAGAGGCAACAAACACGTTTGCTTCG___GAAACTTCGAGCCACGTTAGATGAATATACTACTCGTGTGGGACAGCAAGCTATTGTCCTCTGTATCTCACCCTCCAAACCTAACCCTGTCTTTAAAGTGTTTGGTGCAGCACCTTTGGAGAATGTG___GTGCGTAAGTACAAGAGCATGATCCTGGAAGACCTGGAGTCTGCTCTGGCAGAACACGCCCCTGCGCCACAGGAGGTTAACTCAGAACTGCCGCCTCTCACCATCGACGGAATTCCAGTCTCTGTGGACAAAATGACCCAG___GCCCAGCTTCGGGCATTTATCCCAGAGATGCTCAAGTACTCTACAGGTCGGGGAAAACCAGGCTGGGGGAAAGAAAGCTGCAAGCCCATCTGGTGGCCTGAAGATATCCCCTGGGCAAATGTCCGGAGTGATGTCCGCACAGAAGAGCAAAAGCAGAGG___GTTTCATGGACCCAGGCACTACGGACCATAGTTAAAAACTGTTATAAACAGCATGGGCGGGAAGACCTTTTGTATGCCTTTGAAGATCAGCAAACGCAAACACAGGCCACAGCCACACATAGTATAGCTCATCTTGTACCATCACAGACTGTAGTCCAGACTTTTAGTAACCCTGATGGCACTGTCTCACTTATCCAG___GTTGGTACGGGGGCAACAGTAGCCACATTGGCTGATGCTTCAGAATTGCCAACCACGGTCACCGTTGCCCAAGTGAATTATTCTGCCGTGGCTGATGGAGAG___GTGGAACAAAATTGGGCCACGTTACAGGGAGGTGAGATGACCATCCAGACGACGCAAGCATCAGAGGCCACCCAGGCGGTGGCATCGTTGGCAGAGGCCGCAGTGGCAGCTTCTCAGGAGATGCAGCAGGGAGCTACAGTCACTATGGCGCTTAACAG___CGAAGCTGCCGCCCATGCTGTCGCCACCCTGGCTGAGGCCACCTTACAAGGTGGGGGACAGATCGTCTTGTCTGGGGAAACCGCAGCAGCCGTCGGAGCACTTACTGGAGTCCAAGATGCTAATG___GCCTGGTCCAGATCCCTGTGAGCATGTACCAGACTGTGGTGACCAGCCTCGCCCAGGGCAACGGACCAGTGCAGGTGGCCATGGCCCCTGTGACCACCAGGATATCAGACAGCGCAGTCACCATGGACGGCCAAGCTGTGGAGGTGGTGACATTGGAACAGTGACATACAGCCATATTATGGCATCGTTTTCTAGTCTACTTCAAAATTTTTTACACGTTTGCAGAGGTGCAATCAAATGGAATTAAGTCTCTCGACTTTGGAAGGAAAGTTTTGTTAACCTTTTTTTTTTTAAAAGGAAGAAAGCGGATTTTGGAATTGCATTTTTTAAAGCACCACTCTTGATTTTCTGGGATTGGTGAAGAAACTGCATTGTCAATTTCACTGTCCCAAAAAAGCCAAATTGTGGCAGGACTTCTTTCTGCGGAAATGTGTGTGTATACTTATGTGTGTGTATGTGTGAGTGTGAATATATGTATATGTGTACATATGGACATACACATTTACATATATATAAAGTATATATATACATATATATATATATATATGTATGAAACCCGCATGGAATTATCTGTATGAAATCAAGGTGCGCTGTGGAAACAATAATTCACCCAGTTTAGTGGGTGGTAGGGTACGTGGCCAGACACAGTCACCCAGTTTTTGTTCATACCAGGGTCATGCGTTGAGCTACTGACAAACTCAGGCGGAGGTGACCATGCCCTTCACCAAAGCTGCCTCCCAGTGGCCACACAGAACTCTCCCTGCTGGACTCACCTGAGGAAAGAGGCTCCAGCATGGGGTGGGTCAGAGATGTGCTTGCAAGGTCCAGGGACTGCGTGGTCTGCCAGCTGAGATGCTCCTCGGGCTGGCCCAGGTGCTGACCTTGCCACAGGCAGATGAATGTCTTGAAAGCTCCCGGGCCTCAGCCTCCCATCTCCTCTCCTTCCCAGGAATCCTTGATCTCATGACTATTAAAATGTTGCTCTGGTTTTAAGGTCA)$ . 01BR027 ENSG00000139083.11 ENSG00000204529.4 +/+ -/- chr12:11752579 chr11:76713186 CDS/splice-site exon translocation 5 3 0 134 6 high out-of-frame . Sterile_alpha_motif_(SAM)/Pointed_domain(100%)| . . ENSG00000139083.11 ENSG00000204529.4 ENST00000396373.9 ENST00000531117.2 downstream downstream . ^(ACGTCAGTTTCTGCACTGAAACTCTCAAGATCAATGAGCAAAGAGCTTTCTCAGTTCTGCCTTTCAGTTTCTCTCTTCCAGGAAGGAAAACATTCGAGAGAGCGAGGGAGAGCCGCGGGAGGGCGGGGGGCGGGGGCGCCGGCTGCGGGTGGGAGGAGAGACCGGGAGGCCGGCCGGGCTGCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCCAACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGACCGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTG)AGAACTTCCTGATCTCTCTCGCTGTGAGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAG___CAGGAACGAATTTCATATACACCTCCAGAGAGCCCAGTGCCGAGTTACGCTTCCTCGACGCCACTTCATGTTCCAGTGCCTCGAGCGCTCAGGATGGAGGAAGACTCGATCCGCCTGCCTGCGCACCTGC|ATGCGGGAGCTGCGGTGTGAGAACGTCGCCACCTGCCTGGGCATTTTCGTGATCTCTGGGGAACCTGCTTCGGAAAGAGGTCCTGCACCTAGACTGGACCTTCAAGGCCTCCCTGCTGCTGGATTTGATCTGC(___GGCATGAGGTATCTGCACCACCACCATTTCCCTCCTGGCTGCCTCAAGTTCCAAAACTGTGTGGTGGACAGATGCTTTGTGCTCAAGGTCACTGACCATGGTTATGCAGAGCCCCTGGACACTTAGCAGGATCCCCAACCCTGGCCAGCCCCAGAAG___AGCTGCTATGGACAGCTCCTGAGCTGCTGCCGGGGCCTGGGCGCCCTGGGCGGCGCACCCTCACAGGGGACATCTTCAGCACTGGCATCATCCTGCAGGAGGTGCTGACTCGGGCCCACTCTACTGCTCCTCGGGACTTCCAGTGGAAG___AAATCATCAGGAGGGTGGCATCTCCCCCTCCTCTGTGCCGGCCGCTGGTGACCCCTGATCACGGGCCGCCTGAGTGCGTTGGCTGATGAAGAAGTGCTGGGACGAGGCTCCAGAGGACAGACCTAGCATGGACCAGATCTACAGCCAG___TCAGTTCAAAAGCATCAACCAAGGCAAGAGGACCAGTGTTGCTGACTCCATGCTGTGGTTGCTGGAGAAATATTCCCAGAACCTGGAGGACCTGATTCAGGAGCAGACTGAGGAACTGGAGCTGAAGAGAGAGAAGACAGAAAGGCTGCTCTGTCAGATGATTCCCCC___GTCTGTGGCTGAAGCTCGGAAAATGGGGGCAACTGTGGAACCAGGGTATTTTGACCAGGTTACCATATACTTCAGTGACATTGTGGGTTTCACCATCATCTCAGCCCTGAGTGAACCCATTGAGGCGGTGGGCTTGCTCAACGATCTCTACATGCTGTTTGATGCTGTTCTGGGCAGCCATGACCTGTATAAGGT___GTGGAGACCATTGGGGACGCCTACATGGTGGTGTGGGGGCTGCCTCAGTGCAATGGCAGTCAGCATGCGGCCGAGATCAATAACATGGCTCTGGATATCCTTGGCTCTGTGGGTGACTTCCGGAAGAGGCATGCACCCAACGTGCCCATTTGCATCAGGGCTGGCCTGCATTCAG___GGCCCTGTGCAGCAGGGGTCGTGGGTCTCACGATGCCTTGGTATTGCCTCTCTGGGGACACTGTCAACACGGCTTCCCAGATGGAGTCCACAGGGCTGC___TCAGCATACAGAATTCATGTCAGCCAAAGCACTGTCCAGATACTGCTCAGCCTTGATGAAAGCTACCAAATTGATATCAGAGGTCAGACTGAGCTGAAG)$ MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHL|hagaav* 01BR027 ENSG00000249859.11 ENSG00000156011.17 +/+ -/- chr8:127794734 chr8:18804898 exon/splice-site CDS/splice-site inversion 2 5 0 340 22 high . . |Pleckstrin_homology_domain(100%),Sec7_domain(100%) . . ENSG00000249859.11 ENSG00000156011.17 ENST00000651587.1 ENST00000327040.13 downstream downstream . ^(AGAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCC)CGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA|CAATGCTGGGGTGAAAACAACACGGCTAGAAGCTCATTCTGAAATGGGGAGCACTGAAATTTTGGAAAAGGAGACCCCAGAAAATCTCAGTAATGGTACCAGCAGCAATGTGGAAGCAGCCAAAAGGTTGGCCAAACGCCTTTATCAGCTGGACAGATTCAAAAGATCAGATGTTGCAAAACACCTTGGCAAGAA___CAACGAATTTAGCAAACTAGTT(GCAGAAGAATATCTGAAGTTTTTTGATTTTACAGGAATGACGCTGGATCAGTCACTCAG___GTATTTCTTTAAAGCATTCTCTCTTGTGGGAGAAACTCAAGAACGAGAGAGAGTTTTAATACACTTCTCCAATAGATATTTTTATTGTAACCCAGATACCATTGCTTCACAAG___ATGGAGTCCATTGCCTTACCTGTGCAATAATGCTTCTTAATACCGATCTACATGGCCAC___AATATTGGAAAGAAGATGACCTGTCAGGAGTTCATTGCAAATCTGCAAGGGGTAAATGAGGGTGTTGATTTCTCCAAGGATCTGCTGAAA___GCTCTGTACAACTCAATCAAGAATGAGAAGCTTGAATGGGCAGT___AGATGATGAAGAGAAAAAAAAGTCTCCCTCAGAAAGTACTGAGGAGAAAGCTAACGGAACACATCCAAAGACCATCAGTCGTATTGGAAGTACTACTAACCCATTTTTGGACATTCCTCATGATCCAAATGCTGCTGTGTACAAAAGTGGATTCTTGGCTCGGAAAATTCATGCAGATATGGATGGAAAGAAGA___CTCCAAGAGGAAAACGAGGATGGAAAACCTTTTATGCTGTACTGAAGGGAACAGTTCTTTACTTGCAAAAG___GATGAATACAAGCCAGAAAAGGCCTTGTCTGAAGAGGACTTGAAAAACGCTGTGAGTGTGCACCACGCATTGGCATCCAAGGCCACGGACTATGAGAAGAAACCAAACGTGTTTAAACTTAAAACTGCCGACTGGAGGGTCTTGCTTTTTCAAACTCA___GAGCCCAGAGGAAATGCAAGGGTGGATAAACAAAATCAATTGTGTGGCAGCTGTATTTTCTGCACCACCATTTCCAGCAGCAATCGGCTCTCAGAAGAAGTTTAGCCGCCCACTTCTGCCTGCCACTACAACAAAACTGTCTCAG___GAGGAGCAACTGAAGTCACATGAAAGTAAGCTGAAGCAGATCACCACCGAGCTGGCCGAGCACCGCTCATATCCCCCCGACAAGAAGGTCAAAGCCAAGGACGTCGATGAGTACAAACTGAAAGACCACTATCTGGAGTTTGAG___AAAACCCGCTATGAAATGTATGTCAGCATTCTCAAGGAAGGAGGCAAAGAGCTACTGAGTAACGATGAAAGCGAGGCTGCAGGACTGAAGAAGTCGCACTCGAGTCCTTCGCTGAACCCGGATACTTCTCCAATCACTGCCAAAGTCAAGCGTAACGTGTCAGAGAGGAAGGATCACCGACCTGAAACACCAAGCATTAAGCAAAAAGTTACTTAGAGTCCATCTGCGGCCAGGAAGTGCTGGTCATGGAGCAAAATAGGGTTTTTCAAGATCTTTCTGGTAATCCGTGAATATATTTAAAAAAAAAAAGTCTGTGACAAAACGGTGCATTAGTAATTTTTTCTATTGTATATTTTTGTTAGTTTCTGTACAGATTGTCTTTGCTCTTGATTTCTTTTGCTTTGATGATTTTTGCAACTTGATAGCTAATGCACCTTTTCTGTGAGGAGGAGGGGATCGTGATTTCAGAATGAATTATGTATCCCTTCTCTTTTGGTTTTCTCTTGTTTGCAGTCTGCTCAGTTGTTTTATGTATTCTCATATCAACTGTTAAACTTTTTTTTAAGGTTAAAGAATTTAATCCATTGTGAAACACTTAACTGGACAAACTGTAGTTTTAGTAAATTCTAGCTGGAGTTAATATACGCCTTTATATGTGAAATCTTGCCCAGTCACAGAGGTAGAATTGAGCACTCACAGATGCTCCAGTAAGAATCACAGTGCTGGGAATCTAGTTGCTCCAATATGAGGCAGCTTCATGTGCAGCTTAGCACTTGTTGTTGAGATCGGACCCTGCTGGAAGCAGGGAAAAGAAGCGTGAAGATCGTAGGATTGAGAACTTAGGGAAGCACATTAGCTTGCTTGAAGTGCTGATTCCATTTCAGCCAAGCAAGGGAAAGAGGAAGTGGAGTCATTTTGCCTTTGAAGGCTGAGGAAAGATTGATACCCAGTTAATTTTGTTTGCTAAAGGATGGGGGCAATAATCGGCCCTTGAGGAGCTGCAGCAGTAGGCATGTGCTCAGTCTGCAGGAATTGTTACCTCACTCCCACAGGGTCTAGACTAGAAATCCATCATCTCTATCGTTGATATCCTTCCATCCAGGAATAGATTTTTCTTACTCTACATATGTGTGTGTGCGTGCGTGTGTGTGCGTGTGTGGGCATGGGGTTGTGTCCTGGTTGTGATATTGAGGTCTTCCTTCCTAACAAATTAATACTAAAATGAAACAGCTTTTCTTGTGTCCTTAAGACAAAATAAGGAAGGAAAACGTAGCTGCAGTTGTCCACGATGGATATTGGTTCTTTAAAATATATCTGAAAGTAGTAGTCAGAATGAATTATGGTTGGAAAACTGAGGAATCTTCTGGTTGCAGGTGCAAAGTGACTTTGTTTATTCTTGTCTCAGTCTCCTTGATAGCCACTTCACTCTGCTACTACTCAACTTTCTCCTAAAAATACTTCATCTATTTTCAGTCCTTTCTTTCTGTCTACTCAAAATGGTTCTATTAACTTTGCAGTCATGAGCTTGTTCCAGTTACAGTCCCTTTGAAGTTCAGGGTGATAAACAGAATATTCTTCTGTAGAGGAAGAGAAAGGAGTGAAAGTTTAGCCCACTGAGACCTAGAGCTTTGTGATTTCCTAACCTTGAAACTCTGTAATCCCTAAAGTTAAAATCTCCGCAAGTGGCACAACTTCAGAACTAATAGTATCACTTTGATTTTTCTTTTTCCTCCCTTAGAAAGTTTCTCTAGTTCTATAGTTTATTTGTTGAAGGTACTATGACCAAAGAATCAGCTGCTCTACAGGAATAGCATGGTTCCAGTGAATTAGAGAAAACCTGCTGTAAAGCCATGGTAGTGTCTAAGTGGTATGTTATTATGATGTACTAGCATTTATTTACAGAATTATTTATTAACGTTTACTTCCTTCCCCTCTGTAAATGTCCATGACTATTGCCCAGAGAAGGCTTACCCCTCTCTAGGGTTGCAGTTGCTTTCTTTGTAATAAGTATTTTGCCACACCTGTAAAAAAAAAAACCTCACTTTTAACTCTCTGCCTTGTTTGGGTAAAGGCAGTAACTAAGTTTATGTTTCAGAACTGCAAAACAAACAGGATAGTTACCAATATGGCCCATGTATCAGATTGATTTTTGTAGCCTCTCACTGAATCCAACATATCCACAAGCAAGTTATCTGTCTTTCTACCTGATAATCTAAATTATCAGGATATTTGTTTTCTGCCTAAATGTTTATACTAAGCCGAGGGGAGAGAGGTACCTAGACCATGTCATCTACAAGCTTCAGTAACTAAAGAAAAAGGAACTTCCCTGAGTGGCTTGAATGTGTTTGCCCACAGTCTATATCTATGTATATAGAATGTCTGTATGTATTTTACTTATTTAATATACATTGAATGGTACCTTGCTACAGTATTTCTGACATTTAGAGTAGTGTTGAAATACTCGGCTAGCATCAGCACCACTATAGCACTGTCCGTGTCATATGAGTCACTAATATTAACTCCAGGGACTTCTGGATAGGCTAATAGATCATTGGATACGAAGGGCTCTTTTGAAGCTTCAGTATACCATGTTTGCATAGTTTATCTTTAAAAACAACTTTAAAGGTTCTTTTGTGAGCCAGGATCTCAGACTGCCGTAGCATGATGCTGTCCATCTTTAGCGCATGGGCTGAGAACACCTCTTCCCTGAGGCTTCTGAAGGTTGCTGTCTGTCATGAGTGCATGAAGGAGGCCAAGAGTTTATGCTATGGGAGGAAACAGTCACTGATTTGCCTAGATTCTGAGAGTCTGGCCCATAGCCAACCACATTTTCCTTTGGGATAATTTATTTCCTGTGGCATCTAGCCAGAAGAAATTGAGGATGTTTCCTTTCACAGCTGCTCCAAGCCTGTTGCCCAATTCACGGTACAAGGGAGCACCCCTTCCCTTTCCTCTGAAGGTACGCCACCCACCTCCGTCGCCCACCTCAGCGCCCAGGAGCCTTGGGACTTCCTTCCATATGATAAATCATTCTTCTTCACGTCAATACACTTCATATTAATTTCTAGTACAGAAAATCTTGACAGCTATCAGAATGCCTTGGTCATAGTGTTGTTGCAAAATTGACCATACAGGTGGCCCATGTATAAAATCTGAATTTTAGGGGTTTGTCCCCACCTCGCATGCTGGCTTTTACAGGGAGGTGTCTGGGATTCCTCATTAGCAATCAAAACTTAATTACTGGGATGCAGAGTCCTTACTTTATCGCCAGCCCGTAGGCATTTCTGAAGTGCACTTTTTTGAAACATCATTTTGCTAACTCTCAGCAGTGTCTAATTAAACTGAGCAATACTTTTGTGAATTTTAATTAATCTCAGCAAAACCATGATGGGAGAGAGTCCTCTGATGGAAATGTAGTCCCTGGATTATGTGTAACCTTTTTATTCCTCTTAGATGCAGAGGATAGAAAGCATTTTTTGGTGCAGTGGTCTTGTGGCAAACACAAGACCCTCTATGCGTCTCCAACTGTTATCCTAATCTAGAAAATGAGGACTGGCCCCTGGGCAAAAGTGACATGAGGAATTTACTCTGGAAGAGGAAAATCTGGGTGGCTTTCCAAGGCTAAGATAGGTTTGTATTTCACCCTGTGGCCAAGCTACAGAACTTCTGAGATTGTGGAAGAATTTTTGCAACCAGCAGGGAAAGAGGCCTCTTACTGCCTAAACACAAAGTTACACTGAGCTTTTCTACTGTCCTTTGCCTATTGCTCCCTCTATCATGTAAAGATCTGGGAAGGATGAGAGGCAGGGCCTGCTTGTCATGAGCTGCACTCTTTTCTTTTTAACTAATCATTGACAATTGGAAGAAAATTGACGTTAAAGAAGTTTCTCCATTGTCTTACTAACAAAACCTTTTGGGTTTCATTAATTGTCCTTGAAATTGAGTTCCTTTGGCATTTTTCCTTGCAGTCATCAGTTAAGCATGTTGCATCCTGAATTCACAGAAGTTTAGCTTTGCAGGTTTGAATCTCTGTAATTTAACTCCCGTGGACTTGGTCGAGTTTTCAGCAGGTTGGGAGCCACCTCTCTTCATTTCAGCAGTGAGTCATCCCTTGACTTTTCAAATGACAGAATTTTTTCCAATTGTAAAATTAGCACTGTAAAACAAAGAACCAAAGTGGCATCCTAAGAGTTGTTAAACCTGAAGTCTAGTTTATGAGGAATTGTCCAAGTTGGAGTTTAAATAGTATCTGCTTTTGTCTCAAAGCATCTAAGTTATTCTGACAGAAAATGGTAAGTCAGCTTTGCAGGCAGATGCGCCTCTGGGCCTCCTACCTTGCTCCACAGCTTTCTGGCCATCTTGTCTCCCAGGCCATGCCACTGCTCTGCCACATGTCAGCAAATTTCTTTCCACCAGTCTTATAGCATCTTACATGATCAAATCATCACAGAATAACCCCGTGATAGATTATTGATAGCAATAGAGAGGGGCTTTGTCACTGATTTTTCTCTCAGATTCCTTTTCCATCTCTCATCCATAAAGGAAGGACTGAAATCCAAAGGCATTCTCCTTTTGTACCTACAGTATCCAGAACCCACGTGGGCAGCCTTCTGCTTATGACAATAATTGGCCCATTGCATGCAGAGAGAATGTCTTCATAGAGAGAATGTCATTAAATACTTGAATCTGCATGACAGTTTGACTTGAATGCAACAGCAGGAAAATTTTGCAAGTTACATAATTGTATATACAGTAGGTTTTCTTAAGTCTCTTCGGTTCATCCTTTGTAATTTGTGTGTGTATCTGTAGTATTGCAGGCTTTTGGAGACTATTCTTACAGGCAGTATGTCAGTCATCAAAGAAAATGCTGTCACCTGCCATTGTTGTATTTGTGGGTATTTATAGTTGTATGTATGTAAATGCATCAGTGTGTAGATTGCATATCAGTGTATGGTACATGTACATCAAAATTATTTTTGTCCTTAATCAGTGTGATATGAAAAGCAAGTACAACCTCATAGGACTGATTATATAATGAAGTTGTTGAGAGTATATATAGTGGTATTGTTTTATTAAACTTAAACTCAAATAATATTTTGATTAAAATTTTTAATAAGACTTTATGCTAGAAAATTCTTTGAGCTTTGAATCACCAGGGCAAAAATGACTTTCAACTAACCTTGTGAATCTTTTGCAGTGTACTGTGTGCAATACCAAGGGCATAGCTCCCTGTAATTTGGGAAATACAGAAAGAAAAGAAAAAAAAAAAAAAAGGCAGCCTGTGCAGTCTTAGTAACTTTAGTATTAAGAGCACTTAAAGTCAAACTGACAATTTTGGGCTTATTACAAAATGTGATGCTTTAAAGCACACGTTCTTTATTGTTGTTGTAATTAGTCCATAAAAAATATAGCTTTCGGAAGAATTAAGTACCCACCATATCATTTATGTATTTGTGTATGTTTTACGGGAGATCAAACCACTCTCGTGGTGCCGCATCCGTACTCGCTTGACTTGGAAGAAATATCACAAGCACTAAAGTATATCAGGGCATCCCAGGATTGGGTACTGTATCCTAGGTTTGCAGTTGCAGAAATTAGCATCTAGTGTCACAGGTAAAAGAATTTCAGGACCAGGTTTAAACTTTATTTTAAATATTTTTATACTTAGGTCTCTTTTTCCTGCCTCTCCCCAAAGAAGAGCCACTGGCCTTAGTTGTTTGAGCTTACTGCTTATATTATAGAGTGTAAATAGGTAACTAGAGACTAAAATTTTATTAACCAGCATGTTTGGTATATTTAAAGCAGTGACTGAGTGTGTTTGAGTGAGTGGCTGAGTGCAGTGTCTTTTGTTTAAACACACTGCCTCGTGTCTTTGTAGCTGATTCAGAGAGTTTGAATTGTGGGGTGGGAGACTAACTTCAGCTCCAGGCTGCAGTAATGTGTTGGTAGTTACACTTGAGGCATTTTTTTGTTGTTGTTAATTAACTCTATAGTCTCAAACTATTTTTGCAAATATATCATTTTTCCTAATTGGTTCTTGACGTGCAGTGGACTGGCTCTGTGAATGATTGGCAGGGTCTTAGTTTTGCGAGAGTATTTCCTTCTAAGAATTATTGTGATCTGCAGAAACAGCCATTTGATTCAAAAATCATGTAGAAAAGGAGTAGGAGAAGCAAAACGTTTCATTTTTGGGCCTTAACCATTTGAAATGTTTGGACTTTAAACATAAAGCCATGGAGTTTATAAAGCCAAGTAACCATTTGATATGGATAATAATATCTACTCTAGAGAGAGTATATATATGCACATTGATTTTTAATGCTGTTAAGATACTTTTGTAAAACTGTAGGAACAAGAGTAATTAGACCAAATTGAAGCTTAGGGGACAGTAAAGTGGTTGCTTTCCATTTAGGGTAACCATGCATGTGGTTAGTCCTCTCCTCCTGAGATTCAGAACCAGTTGACTGTCCCCTTAGGTGTATAAGGAGAAAAGTTGACATGTCTGGGACCTCTGACATGTGTACACATGCTTGCACACATGCACACACAGTGAATGTTTTAAGTTATACAAACATAAGACCTTAAGATGCAAAGAGCCAGAATATTCTAAAGAGGTGATGAACAGAGGGGGTGGAAACTGCATCACAGATGTTTTCCAAGGGCCAGGGTGGAATCTGAGCTCTAGTGTCTGACTTTGAGATGCATTATATTTTTAACACATAAATGAGGGGATCCATATCACATTCTTTCTTGTGGACCACCAAATTGAAGGCTTTCTTGTAATTCACAAGCAGCAGCTCTCCAGCATCTCTCCGTAGCCTGGGTGAAGTCCCAGAAGCTGGTGTGCATCATTTTCCAAGGTGGCAGAGCTGCTTGCTCTGCAGATCATTCCTTTGAGAGAGGAGTACAAGTGAAGAAACAAGGAGGCACTTCCTGTAGGAGCACTGATGTGCCTTGTCCACACTCCCCTCTGAGCTTTACTGGTAAGAGAGCTCCGACTGAACATGCTGAGCAGTTGAGCACTTTTCCATCAGCAACAACAGCGAGGATGGAAATGGAAAGGAACCGAACTAAAATGCATTTCCCTTTGCAGGGCAGAGAGCTAAGCTCTTAGGAATAGTGTTATAGAAATAAGCACCCTAACTTCAATTCCTGAAAATGTTGGTTAATGGAGAGAATTTTGGAGTTTCACTTAATATTTTCCCATCGGTCGCCATAAATAAGTCTTCAGGCGCTCCTAGAAGAGTCCCAGCCCAAGGCTCGATTAAGGACCACACTGCAGGTCTGAGGCTCACTGCTCTGAGTCCTGAACACCAGAGCCCTGCAGAGAGTGGTGATAACACATCATCTCTGCAAAGAGGAACCTCTCCCCCGGCCGCCACTTCACTCAGGCTTCTACTGAGCAGCAAGGACAGCCTGGGTTTCAAATGCCACTTCCCCTGCTTTAGGGATCCAGGTGTCCTGATAGCGTGACCCTGCTGAGGCAAGGTATCAACTCCGAGAGTGACTGAGTCACTGAGCGTGGCACATGAACAAACGTCATGACAAAGATTCTCTGAGTGAAGTTAACACCACGTATTTTACCTTTGCAAAAAACAAACTGGCACCCTGAGTTCTAACTACGGACGGACGATATCTTTGCCTCCACACCCAGATTCCTGGAAATGGCTAACGTTTCCTTTCTAGGGGAAGGGTCGAGGAATACTCAAGTGCTAGCTTAGCAGCTTTGTTCAGTCCAGATCAGAGCTGTTAGGTAAAGGCCTAACCACCTCCCTGCAGTCTCTTATATCTCAAGCTTTAGGAACCCATTTCTAAATGTACACTAGCGGAGAATTTATATTGTCAGCCTTGATTACCATAGGACAGGCAGAAAGGCGATAATTTGTATCTTTTAATATAAAAGAAGCTTTTAACTTTTCCAGCCTATTATAATAACTGAGTTATATTCACTGTGGCTCAAACTAATTGGCATTGTGGAACATTTCTTTACCTTCAAAGTTTTCTCCACCAATCATTTCAGTTCTATTGCAGTCCTGGTGCCATATGTCCCCTGCAAATTGTGAAAGTAATTAGTGACAAAATAGCAGCCTGCTCCTTTTCAATGGCGAAACTGTCGGCATTAGCAGTTTTGGGTAAGCTGGCGGTACTATAACACGTACTGGAAACCTGTTCCTCATCACCACCTACCAGATTCTGGAAATGCCGTCTTCTAGAAAACGATGGCGTTTGTGGTGGTCTTCTTTTGAAAGGAACAGTAATTTGTGTGGATATTGTTAAAGTGTTTAAAGAATATTTTGACAATTAAGTTTACATTTTACAATTGCTTTATTTTTTATTAAAATAGTTGTATATAAATATTACCCTATTTCACTGTTGTTCAAGTAAATCTAAACCTTGTAGACAAGTGAGTCATCTGATATGTATAGAAGCTGTGATATATAGAGTACATTTATTGTGTAAATGTTTATGAATATAATTGTTCCTGTGTTTTTATAAGTTGGGGATATTTTGTTGTTTTACGGCAACAAAATTTATTGCATTTAAATGGTTTTTATGTAATAGAAATCACGCAAAATAGTGAAGGATTTAAAATATGTATATGATACATGTAAATGTACAAACTTTAGAAAGAAATAAATCCAACAAATTTCAATCA)$ . 01BR027 ENSG00000249859.11 ENSG00000280441.3 +/+ +/+ chr8:127939676 chr21:8450147 exon/splice-site exon/splice-site translocation 0 5 2 153 431 high . . . . . ENSG00000249859.11 ENSG00000280441.3 ENST00000660438.1 ENST00000651813.1 downstream upstream . ^(GGGCGAAGGTGATTTCCAAAAACTCAGTAACTCCGTGTTTTGAGACTTTCTCAGTTTTTGCATCGCATGTGAGGGTTTGTTGGGTGCTCCTAAACCCTCATCATGGTCATTCTTCTTGGCTGGGCTGTTGATTTAATTAG___GATTTATTAGGAGAAAAACCTTCCCGGAAGCTGCAGAAGGACAAATACAGAATCCGTGTCTGGGAGAAACCTCGTGGCCTGGTCTCCATTATTTGAGATGAGTTACATCTTGGAGGTGAGGACGTGCCTCGTGGTCTAAAGCTTCGGCACAAGGGCCCAACTGGAATTCCACTTACGG___GACCATAGCTGTCTGCAGTGCAGGAAGCCAACTATTAAGGGGAAACAAAAGTGTTCTTAGGAGTCCTGCTGTCACTGTGGATTGAGCCGGTGAAGCCCTGAGGGATTTCATCGCTGAGGTGGATGGAGAAGCAGCTGGGGGCCTTGGCTGTAAGGACCCCTAAGG___GCCTGATCTTTTGGCCAGAAGGAGATTAAAAAGATGCCCCTCAAGATGGCTGTGCCTGTCAGCTGCATGGAGCTTCGTTCAAGTATTTTCTGAGCCTGATGGATTTACAGTGATCTTCAGTGGTCTGGGGAATAACGCTGGTGGAACCATGCACTGGAATGACACACGCCCGGCACATTTCAGGATACTAAAAGTGGTTTTAAGGGAGGCTGTGGCTGAATGCCTCATGGATTCTTACAGCTTGGATGTCCATGGGGGACGAAGGACTGCAGCTGGCTGAGAGGGTTGAGATCTCTGTTTACTTAGATCTCTGCCAACTTCCTTTGGGTCTCCCTATGGAATGTAAGACCCCGACTCTTCCTGGTGAAGCATCTGATGCACGTTCCATCCGGCGCTCAGCTGGGCTTGAG___)GACTTCGCAG___CTGACCATACTCCCTGGAGCCTTCTCCCGAGGTGCGCGGGTGACCTTGGCACATACAGCCATCATGATGGTACTTTAAGTGGAGGCTGAATCATCTCCCCTTTGAGCTGCTTGGCACGTGGCTCCCTTGGTGTTCCCCTTTTACTGCCAGGACACTGAGATTTGGAGAG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCC(GGCTAATTTTTCTATTTTTACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ . 01BR027 ENSG00000249859.11 ENSG00000280441.3 +/+ +/+ chr8:127794734 chr21:8450147 exon/splice-site exon/splice-site translocation 0 12 0 340 431 medium . . . . . ENSG00000249859.11 ENSG00000280441.3 ENST00000651587.1 ENST00000651813.1 downstream upstream . ^(AGAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGC)CCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGT(GATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCCGGCTAATTTTTCTATTTTTACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ . 01BR027 ENSG00000249859.11 ENSG00000280441.3 +/+ +/+ chr8:127796071 chr21:8450147 exon/splice-site exon/splice-site translocation 0 1 1 69 431 medium . . . . . ENSG00000249859.11 ENSG00000280441.3 ENST00000651587.1 ENST00000651813.1 downstream upstream . ^(AGAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA___GATTTATTAGGAGAAAAACCTTCCCGGAAGCTGC)AGAAGGACAAATACAGAATCCGTGTCTGGGAGAAACCTCGTGGCCTGGTCTCCATTATTTGAGATGAGTTACATCTTGGAGGTGAGGACGTGCCTCGTGGTCTAAAGCTTCGGCACAAGGGCCCAACTGGAATTCCACTTACGG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCaGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCC(GGCTAATTTTTCTATTTTTACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ . 01BR027 ENSG00000249859.11 ENSG00000280441.3 +/+ +/+ chr8:127816884 chr21:8450147 exon/splice-site exon/splice-site translocation 0 1 1 35 431 medium . . . . . ENSG00000249859.11 ENSG00000280441.3 ENST00000657183.1 ENST00000651813.1 downstream upstream . ^(GAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAA)GGATGTTGGCGGTCCCTGTGcCCTGTGGAGACACGGCCAGATCTGCCCTCCA___AGCTTTACAGAAATTCCATGCTGCCTTCAGCTTCCTTTGCCGCTCTGCATCATGTTG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCgCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCC(GGCTAATTTTTCTATTTTTACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ . 01BR027 ENSG00000106344.8 ENSG00000226066.1(24753),ENSG00000231244.1(200801) -/- ./+ chr7:128313175 chr7:136513070 CDS/splice-site intergenic inversion 2 2 1 238 26 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000106344.8 . ENST00000223073.6 . upstream upstream . ^(ACTTCCGGAATCTCTCGGCGTGTGAGCTTGGTTGTCCTACCAAAGCCAGCGTTTCGGCTCGCGTGCGCCGGCCTAGTTTGCTCGCGTCCTCACGCGCTTTGGGTTTCCCGGTCTCATGGCCGGCCTGACCTTATTTGTGGGCCGCCTCCCGCCCTCGGCCCGCAGTGAGCAGCTGGAGGAACTGTTCAGTCAGGTGGGGCCGGTGAAGCAGTGCTTCGTGGTGACTGAAAAAG___GGAGTAAGGCATGTCGAGGCTTTGGCTATGTCACTTTTTCAATGCTGGAAGATGTTCAGAGGGCCCTCAAGGAGATTACCACCTTTGAAGGTTGCAAGATCAACGTGACTGTTGCCAAGAAAAAACTGAGGAACAAGACAAAGGAAAAGGGGAAAAATG___AAAACTCAGAGTGCCCAAAGAAGGAGCCGAAGGCTAAAAAAGCCAAAGTGGCAGATAAGAAAGCCAGATTAATTATTCGGAACCTGAGCTTTAAG___TGTTCAGAAGATGACTTGAAGACAGTATTTGCTCAATTTGGAGCTGTCCTGGAAGTAAATATCCCTAGGAAACCAG___ATGGGAAGATGCGCGGTTTTGGTTTTGTTCAGTTCAAAAACCTCCTAGAAGCAGGTAAAGCTCTCAAAGGCATGAACATGAAAGAGATAAAAG___GCCGGACAGTGGCTGTGGATTGGGCCGTGGCAAAGGATAAATATAAAGATACACAGTCTGTTTCTGCTATAG___GTGAGGAAAAGAGCCATGAATCTAAACATCAGGAATCAGTTAAAAAGAAGGGCAGAGAGGAAGAGGATATGGAAGAGGAAGAAAACGATGATGATGACGATGATGATGATGAAGAAGATGGGGTTTTTGATGATGAAGATGAAGAGGAAGAGAATATAGAATCAAAGGTGACCAAGCCTGTGCAAATTCAGAAGAG___AGCAGTCAAGAGACCAGCCCCTGCAAAAAGCAGTGATCATTCTGAGGAGGACAGTGACCTAGAGGAAAGCGATAGTATTGATGATGGAGAGGAACTGGCTCAGAGTGATACCAGCACTGAGGAGCAAGAGGATAAAG___CTGTGCAAGTCTCAAACAAAAAGAAGAGGAAATTACCCTCTGATGTGAATGAAGGGAAAACTGTTTTTATCAG___AAATCTGTCCTTTGACTCAGAAGAAGAAGAACTTGGGGAGCTTCTCCAACAGTTTGGAGAACTCAAATATGTCCGCATTGTCTTGCATCCAGACACAGAGCATTCTAAAG___GTTGTGCATTTGCCCAGTTCATGACTCAAGAAGCAGCTCAGAAATGCCTTCTAGCTGCTTCTCCAGAGAATGAG___GCTGGTGGGCTTAAACTGGATGGCCGGCAGCTCAAGGTTGACTTGGCGGTGACCCGTGATGAGGCTGCAAAGCTTCAGACGACGAAGGTGAAGAAGCCGACTGGCACCCGGAATCTCTATCTGGCCCGAGAAGGCT___TGATTCGTGCTGGGACGAAGGCTGCAGAGGGTGTGAGTGCTGCTGATATGGCCAAAAGAGAACGG___TTTGAGCTGCTGAAGCATCAGAAACTCAAGGACCAGAATATCTTTGTCTCCCGAACCAGGCTCTGCCTGCACAATCTCCCAAAGGCTGTAGATGACAAACAGCTCAGAAAGCTGCTGCTGAGTGCTACTAGTGGAGAGAAAGGGGTGCGCATCAAGGAG___TGTAGAGTGATGCGAGACCTCAAAGGAGTTCATGGGAACATGAAGGGTCAGTCCCTGGGCTACGCCTTTGCGGAGTTCCAAGAGCACGAGCATGCCCTGAAAGCCCTCCGCCTCATCAACAACAATCCAGAAATCTTTGGGCCTCTGAAG___AGACCAATAGTGGAGTTCTCTTTAGAAGATCGAAGAAAACTTAAAATGAAGGAATTAAGGATCCAGCGCAGCTTG___CAAAAAATGAGATCCAAGCCTGCAACTGGTGAGCCTCAGAAGGGGCAACCAGAGCCTGCAAAAGACCAGCAACAGAAGGCAGCTCAACACCACACAGAGGAACAAAGCAAGGTGCCCCCAGAGCAGAAGAGAAAGGCGGGCTCTACCTCATGGACCGGGTTCCAGACCAAGGCTGAAGTGGAGCAGGTGGAGCTGCCTGATGGAAAGAAGAG)AAGAAAGGTCCTGGCGCTCCCCTCACACCGAGGCCCCAAAATCAG___GTTGCGGGACAAAGGCAAAGTGAAGCCCGTCCATCCCAAAAAGCCAAAGCCACAGATAAACCAGTGGAAGCAGGAGAAGCAGCAgTTATCGTCCGAGCAG|GATTTCCTCAACATTTGTTCACGTGGAACCATGAGGAAATGGACACCTATTTGAGATATCTACATACTCATGCAAAGTTTCTTACATGTTGAGCTACAATTGGA MAGLTLFVGRLPPSARSEQLEELFSQVGPVKQCFVVTEKGSKACRGFGYVTFSMLEDVQRALKEITTFEGCKINVTVAKKKLRNKTKEKGKNENSECPKKEPKAKKAKVADKKARLIIRNLSFKCSEDDLKTVFAQFGAVLEVNIPRKPDGKMRGFGFVQFKNLLEAGKALKGMNMKEIKGRTVAVDWAVAKDKYKDTQSVSAIGEEKSHESKHQESVKKKGREEEDMEEEENDDDDDDDDEEDGVFDDEDEEEENIESKVTKPVQIQKRAVKRPAPAKSSDHSEEDSDLEESDSIDDGEELAQSDTSTEEQEDKAVQVSNKKKRKLPSDVNEGKTVFIRNLSFDSEEEELGELLQQFGELKYVRIVLHPDTEHSKGCAFAQFMTQEAAQKCLLAASPENEAGGLKLDGRQLKVDLAVTRDEAAKLQTTKVKKPTGTRNLYLAREGLIRAGTKAAEGVSAADMAKRERFELLKHQKLKDQNIFVSRTRLCLHNLPKAVDDKQLRKLLLSATSGEKGVRIKECRVMRDLKGVHGNMKGQSLGYAFAEFQEHEHALKALRLINNNPEIFGPLKRPIVEFSLEDRRKLKMKELRIQRSLQKMRSKPATGEPQKGQPEPAKDQQQKAAQHHTEEQSKVPPEQKRKAGSTSWTGFQTKAEVEQVELPDGKKRRKVLALPSHRGPKIRLRDKGKVKPVHPKKPKPQINQWKQEKQQLSSEQ|dflnicsrgtmrkwtpi* 01BR027 ENSG00000156299.13 ENSG00000225267.1(15974),ENSG00000188694.6(1454) -/- ./- chr21:31339243 chr21:30279855 5'UTR/splice-site intergenic deletion 3 1 0 21 5 high . . . . . ENSG00000156299.13 . ENST00000286827.7 . upstream downstream duplicates(1) ^(GCCCCGCATCGTGCCCGGCCCCGTCGCGGAGATCCCGGACGACCGTCGCGG___GTTGATGGTCGCATTCCAGATGTAAACAGCTTCAGAAGCCTGACGGTCATATG___GTAGAATCACTGTGGACTGAGACCCACCTT)TCTAGcCCTGAAGCCCAGGAGGAGGAAGAGGAGGCTGGTTGGTACCATGGGCATAATGCTCTGAATCCTAGTCTCTCACCTAGTATGTGAGCAGTCCCTGCAGATGGCCCATTTGGAGATCTTGACAAAGCCTCTTCTGTTTCCAATGGG|ACTCTCTGGCAGGCAAGAAGATTGCTCCTAACCTGAAGAACAAAAGAACACTCAGGGGAAGAAATGGCATGGAAGTGACATCTGAATG___ACgGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGCGGCATGATCTTG . 01BR027 ENSG00000129351.17 ENSG00000130164.14 +/+ +/+ chr19:10654487 chr19:11100223 5'UTR/splice-site CDS/splice-site deletion 1 2 0 74 18 high . . |Calcium-binding_EGF_domain(100%),Coagulation_Factor_Xa_inhibitory_site(100%),Low-density_lipoprotein_receptor_domain_class_A(100%),Low-density_lipoprotein_receptor_repeat_class_B(100%) . . ENSG00000129351.17 ENSG00000130164.14 ENST00000449870.5 ENST00000558518.6 downstream upstream . ^(AAAGGGGGCGGGGCTTCAGCCGGTCACGTGTTCCCGCACCTCCCCGGCGCGCGCCTGCC)CGCCCGCCCGCTCGCCCCCGGTCCGGACTCCTCCTCCTCCTCTTCTCGCCATTGCAGTTGGACCCAGCAGCCCGGCGCGCACCGCGTGGCTTTTGGGGGCAGACCCCGGCGGGCTGTGGCAGGAGGGCGGCGGCGGCGGCTGCGGTCGAAGAAGGGGACGCCGACAAG|TGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCT___TGTCTGTCACCTGCAAATCCGGGGACTTCAGCT(GTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTC___CCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCG___CTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATG___TGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCG___GGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAG___ATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGG___GCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAG___CACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGG___CTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAG___ATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAG___GACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAG___GAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAG___AGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAG___CTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCG___TGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCG___AGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACAGCAGATGGCACCAACGGGACCCCCTGGCCCTGCCTCATCCACCAATCTCTAAGCCAAACCCCTAAACTCAGGAGTCAACGTGTTTACCTCTTCTATGCAAGCCTTGCTAGACAGCCAGGTTAGCCTTTGCCCTGTCACCCCCGAATCATGACCCACCCAGTGTCTTTCGAGGTGGGTTTGTACCTTCCTTAAGCCAGGAAAGGGATTCATGGCGTCGGAAATGATCTGGCTGAATCCGTGGTGGCACCGAGACCAAACTCATTCACCAAATGATGCCACTTCCCAGAGGCAGAGCCTGAGTCACTGGTCACCCTTAATATTTATTAAGTGCCTGAGACACCCGGTTACCTTGGCCGTGAGGACACGTGGCCTGCACCCAGGTGTGGCTGTCAGGACACCAGCCTGGTGCCCATCCTCCCGACCCCTACCCACTTCCATTCCCGTGGTCTCCTTGCACTTTCTCAGTTCAGAGTTGTACACTGTGTACATTTGGCATTTGTGTTATTATTTTGCACTGTTTTCTGTCGTGTGTGTTGGGATGGGATCCCAGGCCAGGGAAAGCCCGTGTCAATGAATGCCGGGGACAGAGAGGGGCAGGTTGACCGGGACTTCAAAGCCGTGATCGTGAATATCGAGAACTGCCATTGTCGTCTTTATGTCCGCCCACCTAGTGCTTCCACTTCTATGCAAATGCCTCCAAGCCATTCACTTCCCCAATCTTGTCGTTGATGGGTATGTGTTTAAAACATGCACGGTGAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAAAAACCATGCATGGTGCATCAGCAGCCCATGGCCTCTGGCCAGGCATGGCGAGGCTGAGGTGGGAGGATGGTTTGAGCTCAGGCATTTGAGGCTGTCGTGAGCTATGATTATGCCACTGCTTTCCAGCCTGGGCAACATAGTAAGACCCCATCTCTTAAAAAATGAATTTGGCCAGACACAGGTGCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGCTGGATCACTTGAGTTCAGGAGTTGGAGACCAGGCCTGAGCAACAAAGCGAGATCCCATCTCTACAAAAACCAAAAAGTTAAAAATCAGCTGGGTACGGTGGCACGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCCTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCCATGATCGAGCCACTGCACTCCAGCCTGGGCAACAGATGAAGACCCTATTTCAGAAATACAACTATAAAAAAATAAATAAATCCTCCAGTCTGGATCGTTTGACGGGACTTCAGGTTCTTTCTGAAATCGCCGTGTTACTGTTGCACTGATGTCCGGAGAGACAGTGACAGCCTCCGTCAGACTCCCGCGTGAAGATGTCACAAGGGATTGGCAATTGTCCCCAGGGACAAAACACTGTGTCCCCCCCAGTGCAGGGAACCGTGATAAGCCTTTCTGGTTTCGGAGCACGTAAATGCGTCCCTGTACAGATAGTGGGGATTTTTTGTTATGTTTGCACTTTGTATATTGGTTGAAACTGTTATCACTTATATATATATATATACACACATATATATAAAATCTATTTATTTTTGCAAACCCTGGTTGCTGTATTTGTTCAGTGACTATTCTCGGGGCCCTGTGTAGGGGGTTATTGCCTCTGAAATGCCTCTTCTTTATGTACAAAGATTATTTGCACGAACTGGACTGTGTGCAACGCTTTTTGGGAGAATGATGTCCCCGTTGTATGTATGAGTGGCTTCTGGGAGATGGGTGTCACTTTTTAAACCACTGTATAGAAGGTTTTTGTAGCCTGAATGTCTTACTGTGATCAATTAAATTTCTTAAATGAACCAA)$ . 01BR027 ENSG00000173575.22 ENSG00000260361.1(1693),ENSG00000258527.1(12462) +/+ ./+ chr15:92979283 chr15:92783185 CDS/splice-site intergenic duplication 1 2 0 65 35 high out-of-frame . Chromo_(CHRromatin_Organisation_MOdifier)_domain(100%),Helicase_conserved_C-terminal_domain(100%),SNF2_family_N-terminal_domain(100%)| . . ENSG00000173575.22 . ENST00000394196.9 . downstream upstream . ^(AGAGCTGGGAAGGAGGCTCTAGATGGCGGCTGTGCCTTAGAGAGAGCGCGCTCTGCTCCCTGCCTTTGCCTCACTTTACGCAACTTTCCCTAACTTTCGGGCAGCCTCAGGGGGCCCCCGTAGCCCCCTGCCTTTCCTAGGGACTTACTGGGGTCGATTCGAACCTTTTTTTGGGAGAAAAGCAGCTTTTAGGAGCTTTCTTTTCGTGCCTTGTTGGAAAGAAGCAGCCGTACTGAGAGCCCAGGTCGTTGTTTTTTCCAGCTTAGAAGCCATGGCGCACCTCCATTTTTGTGCGCTCTCCTAATGAGGTTTTTTTTCTTTCGGACCTGTTTTAGTATTAATTATTGCTTTATTTTTTTGACCAGTTAACATATTTGAGGGTTATTTTATTTATTTTTCGTTTTTTAACGGAGGATTTTGCCTTTATTTTTAATTATTTGGGATCTGATATTTTTCTACTAGTAGATAGGACTCTTGGTTTGGACATACTACATGGATCAG___TAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCCTTAATATTTAAGAATTAAAAGATGATGAGAAATAAGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAATGCATCGAG___TCACTCAGCCTCTGAAGAAGCTTCGGGTTCAGACTCAGGCAGTCAGTCGGAAAGTGAGCAGGGAAGTGATCCAGGAAGTGGACATGGCAGCGAGTCGAACAGCAGCTCTGAATCTTCTGAGAGTCAGTCGGAATCTGAGAGCGAATCAGCAGGTTCCAAATCCCAGCCAGTCCTCCCAGAAGCCAAAGAGAAGCCAGCCTCTAAGAAGGAACGGATAGCTGATGTGAAGAAG___ATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAG___GCAAGTAGCGGGTCTGAGAGTGGGAGCCCAAAAAGAAGAGGCCAGAGGCAGCTGAAAAAACA___AGAAAAATGGAAACAGGAACCCTCAGAAGATGAACAGGAACAAGGCACCAGTGCAGAGAGTGAGCCAGAACAAAAAAAAGTAAAAGCCAGAAGACCTGTCCCCAGAAG___AACAGTGCCCAAACCTCGTGTTAAAAAGCAGCCGAAGACTCAGCGTGGAAAGAGAAAAAAGCAAGATTCTTCTGATGAGGATGATGATGATGACGAAGCTCCCAAAAGGCAGACTCGTCGAAGAGCGGCTAAAAACGTTAG___TTACAAAGAAGATGATGACTTTGAGACTGACTCAGATGATCTCATTGAAATGACTGGAGAAGGAGTTGATGAACAGCAAGATAATAGTGAAACTATTGAAAAGGTCTTAGATTCAAGACTGGGAAAGAAAGGAG___CCACTGGAGCATCTACTACTGTATATGCGATTGAAGCTAATGGCGACCCTAGTGGTGACTTTGACACTGAAAAGGATGAAGGTGAAATCCAGTACCTCATCAAGTGGAAGGGTTGGTCTTACATCCACAGCACATGGGAGAGTGAAGAATCCTTACAGCAACAGAAAGTGAAGGGCCTAAAAAAACTAGAGAACTTCAAGAAAAAAGAGGACGAAATCAAACAATG___GTTAGGGAAAGTTTCTCCTGAAGATGTAGAATATTTCAATTGCCAACAGGAGCTGGCTTCAGAGTTGAATAAACAGTATCAGATAGTAGAAAGAGTAATAG___CTGTGAAGACAAGTAAATCTACATTGGGTCAAACAGATTTTCCAG___CTCATAGTCGGAAGCCGGCACCCTCAAATGAGCCCGAATATCTATGTAAATGGATGGGACTCCCCTATTCAGAGTGTAGCTGGGAAGATGAAGCCCTCATTGGAAAGAAATTCCAGAATTGCATTGACAGCTTCCACAGTAGGAACAACTCAAAAACCATCCCAACAAGAGAATGCAAG___GCCCTGAAGCAGAGACCACGATTTGTAGCTTTAAAGAAACAACCTGCATATTTAGGAGGGGAGAATCTGGAACTTCGAGATTATCAGCTAGAAGGTCTAAACTGGCTAGCTCATTCCTGGTGCAA___AAATAATAGTGTAATCCTTGCTGATGAAATGGGCCTAGGAAAGACCATCCAGACCATATCATTCCTCTCCTACCTGTTCCACCAACACCAGCTGTATGGCCCCTTTCTTATAGTCGTCCCTTTATCCACCCTCACCTCATGGCAGAGAGAGTTTGAAATCTGGGCACCAGAGATTAACGTAGTGGTTTACATAGGTGACCTGATGAGCAGAAATACG___ATACGGGAATATGAATGGATTCATTCCCAAACCAAAAGATTGAAGTTCAACGCACTTATAACAACATATGAGATCCTCTTGAAAGATAAG___ACTGTGCTGGGCAGTATTAACTGGGCCTTTCTGGGAGTGGATGAAGCCCATCGGTTGAAGAATGATGACTCTTTATTGTATAAAACTCTGATTGATTTCAAGTCCAACCATAGGCTCCTGATTACGGGGACCCCTCTTCAGAATTCCCTCAAAGAGCTCTGGTCCTTGCTGCACTTTATTATGCCGGAGAA___GTTTGAATTTTGGGAAGATTTTGAAGAAGACCATGGGAAGGGGAGAGAAAATGGCTACCAGAGTCTTCATAAGGTGCTAGAGCCTTTCCTTCTCCGGAGAGTCAAAAAAGATGTGGAGAAATCCCTTCCTGCTAAAGTGGAACAGATTCTCAGGGTGGAGATGTCAGCCCTTCAGAAACAGTATTACAA___GTGGATTCTGACCAGGAATTACAAGGCTCTTGCCAAAGGAACAAGAGGCAGCACATCTGGTTTTCTTAATATTGTGATGGAACTGAAAAAATGTTGCAACCACTGCTATCTGATTAAACCCCCTGAAGAAAATGAAAGGGAAAATGGACAGGAGATTCTTCTG___TCCCTCATAAGGAGCAGTGGGAAGTTGATTTTATTAGACAAACTGTTGACAAGACTTCGAGAAAGGGGGAATCGAGTGCTTATCTTCTCTCAGATGGTGAGAATGTTGGATATCCTGGCTGAATACCTAACTATTAAACACTATCCTTTCCAG___CGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAG___GACTTCTGTTTCCTGCTCTCGACAAGGGCTGGTGGCCTGGGAATCAATTTGGCTTCAGCGGACACAGTCGTCATCTTTGACTCTGACTGGAACCCCCAGAATGACTTGCAGGCACAAGCCCGAGCGCATAGAATTGGTCAAAAG)AAGCAG___GTAAATATTTACCGCTTAGTTACAAAGGGGACTGTGGAGGAGGAGATCATAGAACGGGCCAAAAAGAAGATGGTATTAGATCATCTGGTGATTCAGCGCATGGACACCACTGGCCGGACGATCCTGGAAAACAACTCAGGAAGGTCCAA|AACTCCCACCAAATGGATCCGCTGGCACGTAGACCTCAGCTAAGGGGCAAACTGAGGACTGCACTTTGACTACCATTCTTTGTCCTGAAGTTCTTCCTGAGAGGCCTGGAGGAAGT MMRNKDKSQEEDSSLHSNASSHSASEEASGSDSGSQSESEQGSDPGSGHGSESNSSSESSESQSESESESAGSKSQPVLPEAKEKPASKKERIADVKKMWEEYPDVYGVRRSNRSRQEPSRFNIKEEASSGSESGSPKRRGQRQLKKQEKWKQEPSEDEQEQGTSAESEPEQKKVKARRPVPRRTVPKPRVKKQPKTQRGKRKKQDSSDEDDDDDEAPKRQTRRRAAKNVSYKEDDDFETDSDDLIEMTGEGVDEQQDNSETIEKVLDSRLGKKGATGASTTVYAIEANGDPSGDFDTEKDEGEIQYLIKWKGWSYIHSTWESEESLQQQKVKGLKKLENFKKKEDEIKQWLGKVSPEDVEYFNCQQELASELNKQYQIVERVIAVKTSKSTLGQTDFPAHSRKPAPSNEPEYLCKWMGLPYSECSWEDEALIGKKFQNCIDSFHSRNNSKTIPTRECKALKQRPRFVALKKQPAYLGGENLELRDYQLEGLNWLAHSWCKNNSVILADEMGLGKTIQTISFLSYLFHQHQLYGPFLIVVPLSTLTSWQREFEIWAPEINVVVYIGDLMSRNTIREYEWIHSQTKRLKFNALITTYEILLKDKTVLGSINWAFLGVDEAHRLKNDDSLLYKTLIDFKSNHRLLITGTPLQNSLKELWSLLHFIMPEKFEFWEDFEEDHGKGRENGYQSLHKVLEPFLLRRVKKDVEKSLPAKVEQILRVEMSALQKQYYKWILTRNYKALAKGTRGSTSGFLNIVMELKKCCNHCYLIKPPEENERENGQEILLSLIRSSGKLILLDKLLTRLRERGNRVLIFSQMVRMLDILAEYLTIKHYPFQRLDGSIKGEIRKQALDHFNADGSEDFCFLLSTRAGGLGINLASADTVVIFDSDWNPQNDLQAQARAHRIGQKKQVNIYRLVTKGTVEEEIIERAKKKMVLDHLVIQRMDTTGRTILENNSGRSk|tptkwirwhvdls* 01BR027 ENSG00000134884.15 ENSG00000125266.8 -/- -/- chr13:106557048 chr13:106495840 CDS/splice-site CDS/splice-site deletion/read-through 12 14 0 495 56 medium out-of-frame . |Ephrin(100%) . . ENSG00000134884.15 ENSG00000125266.8 ENST00000400198.8 ENST00000646441.1 upstream downstream duplicates(3) ^(GCAGCTGCCATCTTAGGGGCGCCTGGCGCTACGGGTTTCTCGTTGGAGGCGGCCTTCGTGGCAGCTGTAGACGCCGGGAAAAGGCATAAAGTCCGTTGGCCGACACCTTTCTTTCCTCCGGCCTCGGTAGAACCGCCAGCCCGCGTCCGAAGGCGGAGGCGAGGGGAACTGGCCGCGTGAGGGGCCTGAGGCGAGCGGTTAGAGCGTCTCCCGGAAGGATGGGCCGGTCTCGGAGCCGGAGCTCGTCCCGCTCCAAGCACACCAAGAGCAGCAAGCACAACAAGAAGCGCAGCCGGTCCCGGTCGCGATCCCGGGACAAGGAGCGCGTGCGGAAGCGTTCCAAATCTCGGGAAAGTAAACGGAACCGGCGGCGGGAGTCGCGGTCCCGTTCGCGCTCCACCAACACGGCCGTGTCCCGGCGCGAGCGGGACCGGGAGCGCGCCTCGTCCCCGCCCGACCGCATCGACATCTTCGGGCGCACGGTGAGCAAGCGCAGCAGCCTGGACGAGAAGCAGAAGCGAGAGGAGGAGGAGAAGAAAGCGGAGTTCGAGCGGCAGCGAAAAAT___TCGACAGCAAGAAATAGAAGAAAAACTCATCGAGGAAGAAACAGCACGAAGAGTAGAAGAATTGGTAGCAAAAAGGGTGGAGGAAGAACTGGAGAAAAGGAAGGATGAAATTGAACGAGAAGTTCTCCGAAGGGTGGAGGAAGCCAAACGCATCATGGAAAAGCAGTTGCTCGAAGAACTCGAGCGACAGAGACAAGCTGAGCTTGCCGCACAAAAAGCTAGAGAG___)GAGGAAGAACGTGCAAAACGTGAGGAGCTAGAGCGAATACTGGAAGAGAATAACCGAAAAATTGCAGAAGCACAAGCCAAACTG|CTACATCAAATGGGTCTTTGGAGGGCCTGGATAACCAGGAGGGAGGGGTGTGCCAGACAAGAGCCATGAAGATCCTCATGAAAGTTGGACAAG___ATGCAAGTTCTGCTGGATCAACCAGGAATAAAGATCCAACAAGACGTCCAGAACTAGAAGCTGGTACAAATGGAAGAAGTTCGACAACAAGTCCCTTTGTAAAACCAAATCCAG___GTTCTAGCACAGACGGCAACAGCGCCGGACATTCGGG(GAACAACATCCTCGGTTCCGAAGTGGCCTTATTTGCAGGGATTGCTTCAGGATGCATCATCTTCATCGTCATCATCATCACGCTGGTGGTCCTCTTGCTGAAGTACCGGAGGAGACACAGGAAGCACTCGCCGCAGCACACGACCACGCTGTCGCTCAGCACACTGGCCACACCCAAGCGCAGCGGCAACAACAACGGCTCAGAGCCCAGTGACATTATCATCCCGCTAAGGACTGCGGACAGCGTCTTCTGCCCTCACTACGAGAAGGTCAGCGGGGACTACGGGCACCCGGTGTACATCGTCCAGGAGATGCCCCCGCAGAGCCCGGCGAACATTTACTACAAGGTCTGAGAGGGACCCTGGTGGTACCTGTGCTTTCCCAGAGGACACCTAATGTCCCGATGCCTCCCTTGAGGGTTTGAGAGCCCGCGTGCTGGAGAATTGACTGAAGCACAGCACCGGGGGAGAGGGACACTCCTCCTCGGAAGAGCCCGTCGCGCTGGACAGCTTACCTAGTCTTGTAGCATTCGGCCTTGGTGAACACACACGCTCCCTGGAAGCTGGAAGACTGTGCAGAAGACGCCCATTCGGACTGCTGTGCCGCGTCCCACGTCTCCTCCTCGAAGCCATGTGCTGCGGTCACTCAGGCCTCTGCAGAAGCCAAGGGAAGACAGTGGTTTGTGGACGAGAGGGCTGTGAGCATCCTGGCAGGTGCCCCAGGATGCCACGCCTGGAAGGGCCGGCTTCTGCCTGGGGTGCATTTCCCCCGCAGTGCATACCGGACTTGTCACACGGACCTCGGGCTAGTTAAGGTGTGCAAAGATCTCTAGAGTTTAGTCCTTACTGTCTCACTCGTTCTGTTACCCAGGGCTCTGCAGCACCTCACCTGAGACCTCCACTCCACATCTGCATCACTCATGGAACACTCATGTCTGGAGTCCCCTCCTCCAGCCGCTGGCAACAACAGCTTCAGTCCATGGGTAATCCGTTCATAGAAATTGTGTTTGCTAACAAGGTGCCCTTTAGCCAGATGCTAGGCTGTCTGCGAAGAAGGCTAGGAGTTCATAGAAGGGAGTGGGGCTGGGGAAAGGGCTGGCTGCAATTGCAGCTCACTGCTGCTGCCTCTGAAACAGAAAGTTGGAAAGGAAAAAAGAAAAAAGCAATTAGGTAGCACAGCACTTTGGTTTTGCTGAGATCGAAGAGGCCAGTAGGAGACACGACAGCACACACAGTGGATTCCAGTGCATGGGGAGGCACTCGCTGTTATCAAATAGCGATGTGCAGGAAGAAAAGCCCCTCTTCATTCCGGGGAACAAAGACGGGTATTGTTGGGAAAGGAACAGGCTTGGAGGGAAGGGAGAAAGTAGGCCGCTGATGATATATTCGGGCAGGACTGTTGTGGTACTGGCAATAAGATACACAGCTCCGAGCTGTAGGAGAGTCGGTCTGCTTTGGATGATTTTTTAAGCAGACTCAGCTGCTATACTTATCACATTTTATTAAACACAGGGAAAGCATTTAGGAGAATAGCAGAGAGCCAAATCTGACCTAAAAGTTGAAAAGCCAAAGGTCAAACAGGCTGTAATTCCATCATCATCGTTGTTATTAAAGAATCCTTATCTATAAAAGGTAGGTCAGATCCCCCTCCCCCCAGGTTCCTCCTTCCCCTCCCGATTGAGCCTTACGACACTTTGGTTTATGCGGTGCTGTCCGGGTGCCAGGGCTGCAGGGTCGGTACTGATGGAGGCTGCAGCGCCCGGTGCTCTGTGTCAAGGTGAAGCACATACGGCAGACCTCTTAGAGTCCTTAAGACGGAAGTAAATTATGATGTCCAGGGGGAGAAGGAAGATAGGACGTATTTATAATAGGTATATAGAACACAAGGGATATAAAATGAAAGATTTTTACTAATATATATTTTAAGGTTGCACACAGTACACACCAGAAGATGTGAAATTCATTTGTGGCAATTAAGTGGTCCCAATGCTCAGCGCTTAAAAAAACAAATTGGACAGCTACTTCTGGGAAAAACAACATCATTCCAAAAAGAACAATAATGAGAGCAAATGCAAAAATAACCAAGTCCTCCGAAGGCATCTCACGGAACCGTAGACTAGGAAGTACGAGCCCCACAGAGCAGGAAGCCGATGTGACTGCATCATATATTTAACAATGACAAGATGTTCCGGCGTTTATTTCTGCGTTGGGTTTTCCCTTGCCTTATGGGCTGAAGTGTTCTCTAGAATCCAGCAGGTCACACTGGGGGCTTCAGGTGACGATTTAGCTGTGGCTCCCTCCTCCTGTCCTCCCCCGCACCCCCTCCCTTCTGGGAAACAAGAAGAGTAAACAGGAAACCTACTTTTTATGTGCTATGCAAAATAGACATCTTTAACATAGTCCTGTTACTATGGTAACACTTTGCTTTCTGAATTGGAAGGGAAAAAAAATGTAGCGACAGCATTTTAAGGTTCTCAGACCTCCAGTGAGTACCTGCAAAAATGAGTTGTCACAGAAATTATGATCCTCTATTTCCTGAACCTGGAAATGATGTTGGTCCAAAGTGCGTGTGTGTATGTGTGAGTGGGTGCGTGGTATACATGTGTACATATATGTATAATATATATCTACAATATATATTATATATATCTATATCATATTTCTGTGGAGGGTTGCCATGGTAACCAGCCACAGTACATATGTAATTCTTTCCATCACCCCAACCTCTCCTTTCTGTGCATTCATGCAAGAGTTTCTTGTAAGCCATCAGAAGTTACTTTTAGGATGGGGGAGAGGGGCGAGAAGGGGAAAAATGGGAAATAGTCTGATTTTAATGAAATCAAATGTATGTATCATCAGTTGGCTACGTTTTGGTTCTATGCTAAACTGTGAAAAATCAGATGAATTGATAAAAGAGTTCCCTGCAACCAATTGAAAAGTGTTCTGTGCGTCTGTTTTGTGTCTGGTGCAGAATATGACAATCTACCAACTGTCCCTTTGTTTGAAGTTGGTTTAGCTTTGGAAAGTTACTGTAAATGCCTTGCTTGTATGATCGTCCCTGGTCACCCGACTTTGGAATTTGCACCATCATGTTTCAGTGAAGATGCTGTAAATAGGTTCAGATTTTACTGTCTATGGATTTGGGGTGTTACAGTAGCCTTATTCACCTTTTTAATAAAAATACACATGAAAACAAGAAAGAAATGGCTTTTCTTACCCAGATTGTGTACATAGAGCAATGTTGGTTTTTTATAAAGTCTAAGCAAGATGTTTTGTATAAAATCTGAATTTTGCAATGTATTTAGCTACAGCTTGTTTAACGGCAGTGTCATTCCCCTTTGCACTGTAATGAGGAAAAAATGGTATAAAAGGTTGCCAAATTGCTGCATATTTGTGCCGTAATTATGTACCATGAATATTTATTTAAAATTTCGTTGTCCAATTTGTAAGTAACACAGTATTATGCCTGAGTTATAAATATTTTTTTCTTTCTTTGTTTTATTTTAATAGCCTGTCATAGGTTTTAAATCTGCTTTAGTTTCACATTGCAGTTAGCCCCAGAAAATGAAATCCGTGAAGTCACATTCCACATCTGTTTCAAACTGAATTTGTTCTTAAAAAAATAAAATATTTTTTTCCTATGGAAAAA)$ MGRSRSRSSSRSKHTKSSKHNKKRSRSRSRSRDKERVRKRSKSRESKRNRRRESRSRSRSTNTAVSRRERDRERASSPPDRIDIFGRTVSKRSSLDEKQKREEEEKKAEFERQRKIRQQEIEEKLIEEETARRVEELVAKRVEEELEKRKDEIEREVLRRVEEAKRIMEKQLLEELERQRQAELAAQKAREEEERAKREELERILEENNRKIAEAQAKL|lhqmglwrawitrregcarqep* 01BR027 ENSG00000065526.12 ENSG00000149084.13 +/+ +/+ chr1:15931980 chr11:43769674 CDS intron translocation 8 11 1 87 26 medium out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)|short_chain_dehydrogenase(100%) . . ENSG00000065526.12 ENSG00000149084.13 ENST00000375759.8 . downstream upstream mismatches(1) ^(AGTGGGAAGCGTCCGGCTGCCACAGCGCCAGCTCCGTCGTAGTCGCTGCCGCCCGTGTCCCGCTCGCCCCTCCTCCCGCTCCCCCGCCCGCCCCTGCCCGGGCGCATGCGCTGCCGGAGCGCGAGGGTCGGCTTCGGGTGTGTGGTGGCGGCAGAGCTGAGCTGCGAGGCCCGAGAGTCAGAACCTGGGGGAGAGGGATGGTCTCTGCACGGGGGGGAGCCGGAGGAGCCGCCGCCGCTGCCGACGCCACCGCCGCAGCCGCCGCCGCCGCCGCCCCGGCACCCGCCTCCCGGCGCTGACGGTCTCGTACGAAGCCGGCGAGGGGGAGCCAGCAGCGGCGGTCGCCGGCACGCCGCCCAGCATGGTCCGGGAAACCAGGCATCTCTGGGTGGGCAACTTACCCGAGAACGTGCGGGAAGAGAAGATCATCGAGCATTTCAAACG___ATATGGCCGCGTGGAAAGTGTCAAAATTCTTCCCAAGAGGGGATCTGAAGGAGGAGTGGCTGCCTTTGTGGATTTTGTGGACATCAAAAGTGCACAGAAAGCTCACAACTCGGTCAACAAAATGGGTGACAGAGACCTACGCACGGATTATAATGAACCAGGCACCATCCCGAGTGCTGCTCGGGGATTGGATGATACAGTTTCCATAGCATCTCGTAGTAGAGAGGTTTCTGGGTTCAGAGGAGGTGGTGGAGGGCCTGCTTATGGTCCCCCACCGTCACTTCATGCACGAGAAGGACGTTATGAGCGGAGACTTGATGG___GGCTTCAGATAACAGGGAGCGTGCTTATGAACATAGTGCCTATGGACACCATGAACGGGGGACGGGAGGATTTGATCGGACAAGACATTACGATCAGGATTACTATAGAGATCCTCGAGAGCGGACTTTACAACATGGGCTCTATTACGCTTCTCGGAGTCGAAGTCCAAATCGCTTTGATGCTCATGACCCCCGATATGAACCTAGGGCTCGCGAGCAGTTTACACTGCCCAGTGTGGTACACAGGGATATCTACAGGGATGATATTACCCGGGAGGTACGAGGCAGAAGGCCAGAGCGGAATTACCAGCACAGCAGGAGTCGGTCACCACATTCATCCCAGTCTAGAAATCAGTCTCCTCAGAGACTGGCTAGCCAAGCATCTAGACCCACAAGGTCCCCTAGCGGCAGCGGCTCTAGAAGTAGATCCTCCAGTAGTGATTCAATCAGCAGCAGCAGTAGTACCAGCAGTGACAG___CAGTGATTCCAGCAGTAGTTCAAGTGATGATTCTCCAGCTCGATCAGTTCAGTCTGCAGCAGTCCCTGCACCCACTTCCCAGTTGCTTTCATCTCTGGAAAAAGATGAGCCCCGTAAAAGTTTTGGCATCAAGGTCCAGAATCTTCCAGTACGCTCTACAG___ATACAAGCCTTAAAGATGGCCTTTTCCATGAATTTAAGAAATTTGGAAAAGTAACTTCAGTGCAGATACATGGAACTTCAGAAGAGAGGTATGGTCTGGTATTCTTTCGGCAGCAAGAGGACCAAGAAAAAGCCTTGACTGCATCAAAAGGAAAACTTTTCTTTGGCATGCAGATTGAAGTAACAGCATGGATAGGTCCAG___AAACAGAAAGTGAAAATGAATTTCGCCCCTTGGATGAAAGGATAGATGAATTTCACCCCAAAGCAACAAGAACTCTCTTTATTGGCAACCTTGAAAAAACCACTACTTACCATGACCTTCGCAACATCTTCCAGCGCTTTGGAGAAATTGTG___GATATTGACATTAAGAAAGTAAATGGAGTTCCTCAGTATGCGTTTCTGCAATACTGTGATATTGCTAGCGTTTGTAAAGCTATTAAGAAGATGGATGGGGAATATCTTGGAAATAATCGCCTCAAG___CTGGGTTTTGGAAAGAGCATGCCTACAAACTGCGTGTGGCTAGATGGGCTTTCTTCGAATGTGTCAGATCAGTATTTAACACGACATTTCTGCCGATATGGGCCTGTGGTAAAG___GTGGTGTTTGACCGCTTAAAAGGCATGGCCCTGGTTCTCTACAATGAAATTGAATATGCACAAGCAGCTGTAAAAGAGACCAAAGGGAGGAAAATCGGTGGGAATAAAATTAAG___GTGGATTTTGCAAATCGGGAAAGTCAGCTGGCTTTTTATCACTGCATGGAGAAATCTGGTCAAGACATCAGAGACTTTTATGAAATGTTAGCCGAAAGAAG___AGAGGAACGAAGGGCATCCTACGACTATAACCAAGATCGTACATATTATGAGAGTGTTCGAACTCCAGGCACTTATCCTGAGGATTCCAGGCGGGACTATCCAGCTCGAGGGAGAGAGTTTTATTCAGAATGGGAAACTTACCAAGGAGACTACTATGAATCACGATACTACGATGATCCTCGGGAATACAGGGATTACAGGAATGATCCTTATGAACAAGATATTAGGGAATATAGTTACAGGCAAAGGGAACGAGAAAGAGAACGTGAAAGATTTGAGTCTGACCGGGACAGAGACCATGAGAGGAGGCCGATTGAACGAAGTCAAAGTCCTGTTCACTTGCGACGTCCACAGAGTCCTGGAGCGTCTCCCTCTCAGGCAGAGAGGTTGCCGAGTGATTCTGAGAGGAGGCTTTACAGCCGATCCTCAGACCGGAGTGGAAGCTGTAGCTCACTCTCCCCTCCAAGATATGAGAAACTGGACAAGTCTCGTTTGGAGCGCTATACAAAAAATGAAAAGACAGATAAAGAACGAACTTTTGATCCGGAGAGAGTGGAGAGAGAGAGACGCTTAATACGGAAGGAAAAAGTGGAAAAGGACAAAACTGACAAGCAGAAACGCAAAGGAAAGGTTCACTCCCCTAGTTCTCAGTCTTCAGAAACGGACCAAGAAAATGAGCGAGAGCAAAGCCCTGAAAAGCCCAGGAGTTGTAATAAACTGAGCAGAGAGAAAGCTGACAAAGAGGGAATAGCGAAAAACCGCCTGGAACTCATGCCTTGCGTGGTTTTGACTCGAGTGAAAGAGAAAGAGGGAAAGGTCATTGACCACACTCCTGTGGAAAAGTTGAAAGCCAAGCTTGATAATGACACTGTCAAATCTTCTGCCCTGGACCAGAAACTTCAGGTCTCTCAGACGGAGCCTGCAAAATCTGACTTGTCTAAACTGGAATCAGTTAGAATGAAAGTACCAAAGGAAAAGGGGCTTTCAAGCCATGTTGAAGTGGTGGAGAAGGAAGGCAGGCTTAAAGCCAGGAAGCACCTCAAGCCTGAGCAGCCTGCAGATGGGGTAAGTGCTGTGGATCTGGAGAAGCTGGAAGCCAGGAAAAGGCGCTTTGCAGATTCCAATTTAAAAGCAGAAAAGCAAAAACCAGAGGTCAAGAAAAGCAGTCCAGAGATGGAGGATGCTCGCGTGCTTTCAAAAAAGCAGCCTGACGTGTCCTCTAGAGAGGTCATTCTGCTGAGGGAAGGAGAGGCTGAAAGAAAGCCTGTGAGGAAAGAAATTCTTAAAAGAGAATCTAAAAAAATCAAACTGGACAGACTTAATACTGTTGCCAGCCCCAAAGACTGTCAGGAGCTTGCCAGTATTTCTGTTGGGTCTGGCTCAAGGCCCAGCTCAGACCTACAAGCAAGACTGGGAGAACTAGCAGGTGAATCTGTGGAAAATCAAGAAGTCCAATCAAAAAAGCCCATTCCCTCAAAACCACAGCTCAAACAGCTGCAGGTATTAGATGATCAAGGACCAGAGAGAGAAGACGTTAGGAAAAACTATTGCAGTCTTCGTGATGAAACACCTGAACGTAAATCAGGCCAAGAGAAATCACATTCAGTAAATACTGAAGAAAAAATTGGCATTGACATCGATCACACGCAGAGTTACCGAAAACAAATGGAACAGAGTCGTAGGAAACAGCAGATGGAAATGGAAATAGCCAAGTCTGAGAAGTTTGGCAGTCCTAAAAAAGATGTAGATGAATATGAAAGACGTAGCCTCGTTCACGAGGTAGGCAAACCCCCTCAAGATGTCACTGATGACTCTCCTCCTAGCAAAAAGAAAAGGATGGATCATGTCGATTTTGATATCTGCACCAAGCGAGAACGGAATTACAGAAGTTCACGCCAAATCAGCGAAGATTCTGAAAGGACTGGTGGTTCTCCCAGTGTCCGACATGGTTCCTTCCATGAAGATGAGGATCCCATAGGCTCCCCTAGGCTACTGTCAGTAAAAGGGTCTCCTAAAGTAGATGAAAAAGTCCTCCCCTATTCTAACATAACAGTCAGGGAAGAGTCTTTAAAATTTAATCCTTATGATTCTAGCAGGAGAGAACAGATGGCAGATATGGCCAAAATAAAACTATCTGTCTTGAATTCTGAAGATGAACTAAATCGTTGGGACTCTCAGATGAAACAGGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCC)GTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACC|TTCTGAAGTGAAGAAATAGAATGGAGGATGCTGCTGTCACTACCCATTTCTAGAAAGCCTTTATTCAGTCTTTGTGTGCCTTTTACTAGTGGTTTATGTGCCTGGATGTTAGACCAGCAATGTGGGGGCCACCCTCATGTGTGAGTCTCTAGCTTTCCTCCTGCTTCAGTTTGGCTATTTTGCTTTGATCAGTTTTGTAAATTCCATTTTGTATTCTTTCGATAGAAGGGCC MVRETRHLWVGNLPENVREEKIIEHFKRYGRVESVKILPKRGSEGGVAAFVDFVDIKSAQKAHNSVNKMGDRDLRTDYNEPGTIPSAARGLDDTVSIASRSREVSGFRGGGGGPAYGPPPSLHAREGRYERRLDGASDNRERAYEHSAYGHHERGTGGFDRTRHYDQDYYRDPRERTLQHGLYYASRSRSPNRFDAHDPRYEPRAREQFTLPSVVHRDIYRDDITREVRGRRPERNYQHSRSRSPHSSQSRNQSPQRLASQASRPTRSPSGSGSRSRSSSSDSISSSSSTSSDSSDSSSSSSDDSPARSVQSAAVPAPTSQLLSSLEKDEPRKSFGIKVQNLPVRSTDTSLKDGLFHEFKKFGKVTSVQIHGTSEERYGLVFFRQQEDQEKALTASKGKLFFGMQIEVTAWIGPETESENEFRPLDERIDEFHPKATRTLFIGNLEKTTTYHDLRNIFQRFGEIVDIDIKKVNGVPQYAFLQYCDIASVCKAIKKMDGEYLGNNRLKLGFGKSMPTNCVWLDGLSSNVSDQYLTRHFCRYGPVVKVVFDRLKGMALVLYNEIEYAQAAVKETKGRKIGGNKIKVDFANRESQLAFYHCMEKSGQDIRDFYEMLAERREERRASYDYNQDRTYYESVRTPGTYPEDSRRDYPARGREFYSEWETYQGDYYESRYYDDPREYRDYRNDPYEQDIREYSYRQRERERERERFESDRDRDHERRPIERSQSPVHLRRPQSPGASPSQAERLPSDSERRLYSRSSDRSGSCSSLSPPRYEKLDKSRLERYTKNEKTDKERTFDPERVERERRLIRKEKVEKDKTDKQKRKGKVHSPSSQSSETDQENEREQSPEKPRSCNKLSREKADKEGIAKNRLELMPCVVLTRVKEKEGKVIDHTPVEKLKAKLDNDTVKSSALDQKLQVSQTEPAKSDLSKLESVRMKVPKEKGLSSHVEVVEKEGRLKARKHLKPEQPADGVSAVDLEKLEARKRRFADSNLKAEKQKPEVKKSSPEMEDARVLSKKQPDVSSREVILLREGEAERKPVRKEILKRESKKIKLDRLNTVASPKDCQELASISVGSGSRPSSDLQARLGELAGESVENQEVQSKKPIPSKPQLKQLQVLDDQGPEREDVRKNYCSLRDETPERKSGQEKSHSVNTEEKIGIDIDHTQSYRKQMEQSRRKQQMEMEIAKSEKFGSPKKDVDEYERRSLVHEVGKPPQDVTDDSPPSKKKRMDHVDFDICTKRERNYRSSRQISEDSERTGGSPSVRHGSFHEDEDPIGSPRLLSVKGSPKVDEKVLPYSNITVREESLKFNPYDSSRREQMADMAKIKLSVLNSEDELNRWDSQMKQDAGRFDVSFPNSIIKRDSLRKRSVRDLEPGEVPSDSDEDGEHKSHSPRASALYESSRLSFLLRDREDKLRERDERLSSSLERNKFYSFALDKTITPDTKALLERAKSLSSSREENWSFLDWDSRFANFRNNKDKEKVDSAPRPIPSWYMKKKKIRTDSEGKMDDKKEDHKEEEQERQELFASRFLHSSIFEQDSKRLQHLERKEEDSDFISGRIYGKQTSEGANSTTDSIQEPVVLFHSRFMELTRMQQKEKEKDQKPKEVEKQEDTENHPKTPESAPENKDSELKTPPSVGPPSVTVVTLESAPSALEKTTGDKTVEAPLVTEEKTVEPATVSEEAKPASEPAPAPVEQLEQVDLPPGADPDKEAAMMPAGVEEGSSGDQPPYLDAKPPTPGASFSQAESNVDPEPDSTQPLSKPAQKSEEANEPKAEKPDATADAEPDANQKAEAAPESQPPASEDLEVDPPVAAKDKKPNKSKRSKTPVQAAAVSIVEKPVTRKSERIDREKLKRSNSPRGEAQKLLELKMEAEKITRTASKNSAADLEHPEPSLPLSRTRRRNVRSVYATMGD|llk* 01BR027 ENSG00000285629.1 ENSG00000132463.14 -/- -/+ chr1:6192930 chr4:70832231 CDS/splice-site intron translocation/5'-5' 13 1 4 3943 125 medium out-of-frame . . . . ENSG00000285629.1 ENSG00000132463.14 ENST00000484532.6 . upstream upstream duplicates(1) AAAAAGCTTGTGGTGAAGGGGGGCAAAAAAAAGAAGCAAGTTCTGAAGTTCACTCTTGATTGCACCCACCCTGTAGAAGATGGAATCATGGATGCTGCCAATTTT___GAGCAGTTTTTGCAAGAAAGGATCAAAGTGAACGGAAAAGCTGGGAACCTTGGTGGAGGGGTGGTGACCATCGAAAGGAGCAAGAGCAAGATCACCGTGACATCCGAGGTGCCTTTCTCCAAAAG|GCTCATCTAAGATATAGAAGGAGATACCAAGGGAAAAAAGATATGAGCTCCCAAGCATAATACAACTGCAAAGTACCTGCAAAGAAGTCTACAATGTCTTTCTCATTGCAACTATAAGGAAGTCCTCTCAAACGAACCACACCATCATTTACCACAGGCGAAGATTTGACCTGCAAGCTCTTCATT MDAANFEQFLQERIKVNGKAGNLGGGVVTIERSKSKITVTSEVPFSKr|li* 01BR027 ENSG00000104549.12 ENSG00000156831.8 +/+ +/+ chr8:125011632 chr8:125357219 CDS/splice-site CDS/splice-site deletion/read-through 7 7 0 578 132 medium in-frame . NAD(P)-binding_Rossmann-like_domain(100%),Squalene_epoxidase(100%)| . . ENSG00000104549.12 ENSG00000156831.8 ENST00000523430.5 ENST00000287437.8 downstream upstream duplicates(1) ^(AGCTGGCTGAGACGCGTGGAGCCTGGCGGCGAGTGGGGGCGTGCGACGGTTACTCTGGTTACTGGGGCCGCGCCGCGCTGGCGAGAGCCGCCGCCCGCGAGGGATGCTG___CGCAGAAAAGGAACCAATATTTCAGAAACAAGCTTAATAGGAACAGCTGCCTGTACATCAACATCTTCTCAGAATGACCCAGAAGTTATCATCGTGGGAGCTGGCGTGCTTGGCTCTGCTTTGGCAGCTGTGCTTTCCAGAGATGGAAGAAAGGTGACAGTCATTGAGAGAGACTTAAAAGAGCCTGACAGAATAGTTGGAGAATTCCTGCAGCCGGGTGGTTATCATGTTCTCAAAGACCTTGGTCTTGGAG___ATACAGTGGAAGGTCTTGATGCCCAGGTTGTAAATGGTTACATGATTCATGATCAGGAAAGCAAATCAGAGGTTCAGATTCCTTACCCTCTGTCAGAAAACAATCAAGTGCAGAGTGGAAGAGCTTTCCATCACGGAAGATTCATCATGAGTCTCCGGAAAGCAGCTATGGCAGAGCCCAA___TGCAAAGTTTATTGAAGGTGTTGTGTTACAGTTATTAGAGGAAGATGATGTTGTGATGGGAGTTCAGTACAAGGATAAAGAGACTGGAGATATCAAG___GAACTCCATGCTCCACTGACTGTTGTTGCAGATGGGCTTTTCTCCAAGTTCAGGAAAAGCCTGGTCTCCAA)TAAAGTTTCTGTATCATCTCATTTTGTTGGCTTTCTTATGAAG___AATGCACCACAGTTTAAAGCAAATCATGCTGAACTTATTTTAGCTAACCCGAGTCCAGTTCTCATCTACCAGATTTCATCCAGTGAAACTCGAGTACTTGTTGACATTAGAGGAGAAATGCCAAGGAATTTAAGAGAATACATGGTTGAAAAAATTTACCCACAAATACCTG___ATCACCTGAAAGAACCATTCTTAGAAGCCACTGACAATTCTCATCTGAGGTCCATGCCAGCAAGCTTCCTTCCTCCTTCATCAGTGAAGAAACGAG|GTGGTCTTCAAGCTGACAGAGAAGCTGACGGAACAGAAGGAGTGGATGAAGATATAATTGTGACCCAAAGTCAGACCAACTTCACCTGCCCCATTACAAAG___GAGGAAATGAAGAAGCCAGTGAAAAATAAAGTGTGTGGCCACACCTATGAAGAGGACGCCATTGTTCGCATGATTGAGTCCAGGCAAAAGCGGAAGAAAAAGGCCTA___TTGCCCTCAAATTGGCTGTAGCCACACGGATATAAGAAAGTCAGATCTTATCCAGGATGAAGCACTTAGAAGGGCAATTGAGAACCATAACAAGAAAAGACATCGTCATTCCGAG(TAGGAAAAGCCACCTGCCTGCAGGGACACCAGCAGCCTACCTCCTACCCCAGCTGTCTGTTGAGAGCAGTGCTGACCCCAGCAGTTAGGGACTGGCTGCATAGCATACTTGTTGGGGGTAAAACTTGTTGCTTTTATGTGTGCTTGAAAACATTTTTCAAAGTTACACAACAGAAATGCAATCATATTGTTTATTTTTAAGTGTTCTATAATGTTAAATAAAACTTTGATCATCTGCA)$ MLRRKGTNISETSLIGTAACTSTSSQNDPEVIIVGAGVLGSALAAVLSRDGRKVTVIERDLKEPDRIVGEFLQPGGYHVLKDLGLGDTVEGLDAQVVNGYMIHDQESKSEVQIPYPLSENNQVQSGRAFHHGRFIMSLRKAAMAEPNAKFIEGVVLQLLEEDDVVMGVQYKDKETGDIKELHAPLTVVADGLFSKFRKSLVSNKVSVSSHFVGFLMKNAPQFKANHAELILANPSPVLIYQISSSETRVLVDIRGEMPRNLREYMVEKIYPQIPDHLKEPFLEATDNSHLRSMPASFLPPSSVKKR|gGLQADREADGTEGVDEDIIVTQSQTNFTCPITKEEMKKPVKNKVCGHTYEEDAIVRMIESRQKRKKKAYCPQIGCSHTDIRKSDLIQDEALRRAIENHNKKRHRHSE* 01BR027 ENSG00000004478.8 ENSG00000011105.14 +/+ +/- chr12:2803283 chr12:3276045 3'UTR intron inversion/3'-3' 12 1 0 1650 31 medium stop-codon . FKBP-type_peptidyl-prolyl_cis-trans_isomerase(100%),Tetratricopeptide_repeat(100%)| . . ENSG00000004478.8 ENSG00000011105.14 ENST00000001008.6 . downstream downstream mismatches(4) ^(CCTACCCCAGCTCTCGCGCCGCGTGCAGAGGTGCTCAAGCCTCCTCGCGGTCCGCAGTCAGTGCCGCCGCGCCCGGCCTCCCGCACGCCCCGCAGGTAGCGCCCCCGCCCGCGGCCCAGAGTGCGCTCGCGCCGGCACCAGCTCCCGGATAAACGGCGCGCCGCGCGGAGATGACAGCCGAGGAGATGAAGGCGACCGAGAGCGGGGCGCAGTCGGCGCCGCTGCCCATGGAGGGAGTGGACATCAGCCCCAAACAGGACGAAGGCGTGCTGAAG___GTCATCAAGAGAGAGGGCACAGGTACAGAGATGCCCATGATTGGGGACCGAGTCTTTGTCCACTACACTGGCTGGCTATTAGATGGCACAAAGTTTGACTCCAGTCTGGATCGCAAGGACAAATTCTCCTTTGACCTGGGAAAAG___GGGAGGTCATCAAGGCTTGGGACATTGCCATAGCCACCATGAAGGTGGGGGAGGTGTGCCACATCACCTGCAAACCAGAATATGCCTACGGTTCAGCAGGCAGTCCTCCAAAGATTCCCCCCAATGCCACGCTTGTATTTGAG___GTGGAGTTGTTTGAGTTTAAGGGAGAAGATCTGACGGAAGAGGAAGATGGCGGAATCATTCGCAGAATACAGACTCGCGGTGAAGGCTATGCTAAGCCCAATGAGGGTGCTATCGTGGAGG___TTGCACTGGAAGGGTACTACAAGGACAAGCTCTTTGACCAGCGGGAGCTCCGCTTTGAGATTGGCGAGGGGGAGAACCTGGATCTGCCTTATGGTCTGGAGAGGGCCATTCAGCGCATGGAGAAAGGAGAACATTCCATCGTGTACCTCAAGCCCAG___CTATGCTTTTGGCAGTGTTGGGAAGGAAAAGTTCCAAATCCCACCAAATGCTGAGCTGAAATATGAATTACACCTCAAGAGTTTTGAAAAG___GCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAG___GAAGGTAAATACAAGCAAGCTTTACTACAGTATAAGAAGATCGTGTCTTGGCTGGAATATGAGTCTAGTTTTTCCAATGAGGAAGCACAGAAAGCACAGGCCCTTCGACTGGCCTCTCACCTCAACCTGGCCATGTGTCATCTGAAACTACAGGCCTTCTCTGCTGCCATTGAAAGCTGTAACAAG___GCCCTAGAACTGGACAGCAACAACGAGAAGGGCCTCTTCCGCCGGGGAGAGGCCCACCTGGCCGTGAATGACTTTGAACTGGCACGGGCTGATTTCCAGAAGGTCCTGCAGCTCTACCCCAACAACAAAGCCGCCAAGACCCAGCTGGCTGTGTGCCAGCAGCGGATCCGAAGGCAGCTTGCCCG)GGAGAAGAAGCTCTATGCCAATATGTTTGAGAGGCTGGCTGAGGAGGAGAACAAG___GCCAAGGCAGAGGCTTCCTCAGGAGACCATCCCACTGACACAGAGATGAAGGAGGAGCAGAAGAGCAACACGGCAGGGAGCCAGTCTCAGGTGGAGACAGAAGCATAGCCCCTCTCCACCAGCCCTACTCCTG|TaGGGACGACTCATACCAGGAGGCTACGGAGGAGCGGTGAGAAATGGTCCAATTTGAGATGTTTTGAAGGTGGCATTGACAGGCCTTGCTGGGCTTTGAAGAATGAATAGGATTTTGATAAATGGGGAACCAGAAAGGTGTG . 01BR027 ENSG00000075413.18 ENSG00000126214.21 +/+ +/+ chr14:103451983 chr14:103654564 CDS/splice-site 5'UTR/splice-site deletion/read-through 4 5 1 84 60 medium out-of-frame . Protein_kinase_domain(100%)|Tetratricopeptide_repeat(100%) . . ENSG00000075413.18 ENSG00000126214.21 ENST00000429436.7 ENST00000348520.10 downstream upstream mismatches(1) ^(GGCTCCGTGAGGCTCTGAGGTGCCGGGGTGCGGCGGCGGCAGCGGCGGCCAGCAGGGCGGAGGCTGAGGCAGCAAGCTCGCTAGAGAGGGAGAAGCAGTCGGGCGCAGGCGCCTCCTCCGCAGCCCGCTCCATGGTCGGCGCCCACAGCCCGCGGCGGCCTGTCTTGCGCTCCACTTCCTTCACATCCTCCTCCGCCTCCTCGTTTTCAGGCGCCGCCGGCGGCGCTGTGTGGAGGCCCGCGAGCTGAAATTCGCGGTGCGACGGGAGGGAGTGGAGAAGGAGGTGAGGGGGCCCAGGATCGCGGGGCGCCCTGAGGCAAGGGGACGCCGGCGGGCCGAAGCGCAGCCCGCCGCCCGCAGGCTCGGCTCCGCCACTGCCGCCCTCCCGGTCTCCTCGCCTCGGCCGCCGAGGCAGGGAGAGAATGAGCCCCGGGACCCGCCGGGGGACGGCCCGGGCCAGGCCCGGGATCTAGACGGCCGTAGGGGGAAGGGAGCCGCCCTCCCCACGGCGCCTTTTCGGAACTGCCGTGGACTCGAGGACGCTGGTCGCCGGCCTCCTAGGGCTGTGCTGTTTTGTTTTGACCCTCGCATTGTGCAGAATTAAAGTGCAGTAAAATGTCCACTAGGACCCCATTGCCAACGGTGAATGAACGAGACACTGAAAAC___CACACGTCACATGGAGATGGGCGTCAAGAAGTTACCTCTCGTACCAGCCGCTCAGGAGCTCGGTGTAGAAACTCTATAGCCTCCTGTGCAGATGAACAACCTCACATCGGAAACTACAGACTGTTGAAAACAATCGGCAAGGGGAATTTTGCAAAA)GTAAAATTGGCAAGACATATCCTTACAGGCAGAGAG___GTTGCAATAAAAATAATTGACAAAACTCAGTTGAATCCAACAAGTCTACAAAAG___CTCTTCAGAGAAGTAAGAATAATGAAGATTTTAAATCATCCCAATATAG___TGAAGTTATTCGAAGTCATTGAAACTGAAAAAACACTCTACCTAATCATGGAATATGCAAGTGGAG|AATGTATGACAACATGTCCACAATGGTGTACATAAAGGAAGACAAGTTGGAGAAGCTTACACAGGATGAAATTATTTCTAAGACAAAGCAAGTAATTCAGGGGCTGGAAGCgTTGAAGAATGAGCACAATTCCATTTTACAAAGTTTGCTGGAGACACTGAAGTGTTTGAAGAAAGATGATGAAAGTAATTTGGTG(GAGGAGAAATCAAACATGATCCGGAAGTCACTGGAGATGTTGGAGCTCGGCCTGAGTGAGGCACAG___GTTATGATGGCTTTGTCAAATCACCTGAATGCTGTGGAGTCCGAGAAGCAGAAACTGCGTGCGCAGGTTCGTCGTCTGTGCCAGGAGAATCAGTGGCTACGGGATGAACTGGCCAACACGCAGCAGAAACTGCAGAAGAGTGAGCAGTCTGTGGCTCAACTGGAGGAGGAGAAGAAGCATCTGGAGTTTATGAATCAGCTAAAAAAATATGATGACGACATTTCCCCATCC___GAGGACAAAGACACTGATTCTACCAAAGAGCCTCTGGATGACCTTTTCCCCAATGATGAAGACGACCCAGGGCAAGGAA___TCCAGCAGCAGCACAGCAGTGCAGCCGCGGCTGCCCAGCAGGGCGGCTACGAGATCCCCGCGCGGCTGCGGACGCTCCACAACCTGGTGATCCAGTACGCCTCGCAGGGGCGCTACGAGGTAGCTGTGCCCCTCTGCAAGCAGGCCCTGGAGGACCTGGAGAAGACTTCAGGACACGACCACCCGGACGTGGCCACCATGCTCAACATCCTGGCCTTGGTGTACAG___GGATCAGAATAAATACAAAGATGCAGCTAACCTACTGAATGATGCCTTGGCTATTCGTGAGAAAACTTTGGGCAAAGATCATCCTGCG___GTGGCGGCGACTTTGAATAACCTTGCAGTCCTTTATGGTAAAAGAGGGAAGTACAAAGAAGCAGAGCCGTTGTGTAAAAGAGCTCTGGAAATCCGAGAAAAG___GTTTTGGGGAAGGATCACCCCGATGTTGCCAAGCAGTTAAATAACTTGGCCTTACTGTGCCAGAACCAGGGCAAGTATGAAGAAGTAGAATATTATTATCAAAGAGCCCTCGAGATCTACCAGACAAAACTGGGACCTGATGACCCCAACGTGGCTAAGACGAAAAATAACCTG___GCATCCTGCTATTTGAAACAAGGAAAGTTCAAGCAAGCAGAAACACTGTACAAAGAGATTCTCACTCGTGCACATGAAAGGGAGTTTGGTTCTGTAGATG___ATGAAAATAAACCCATCTGGATGCATGCTGAAGAAAGAGAAGAATGCAAA___GGAAAGCAAAAGGATGGGACATCTTTTGGAGAGTATGGCGGCTGGTACAAAGCCTGCAAAGTTGATAG___TCCAACTGTTACAACCACTCTAAAAAACCTTGGGGCACTTTACAGACGTCAAGGCAAATTTGAAGCTGCAGAAACGTTAGAAGAAGCTGCTATGAGGTCTCGTAAACAG___GGTCTTGACAATGTTCACAAACAGAGGGTGGCAGAAGTGCTCAATGACCCTGAGAACATGGAGAAGCGCAGGAGCCGTGAGAGCCTCAACGTGGACGTGGTCAAGTACGAGAGTGGCCCTGACGGAGGGGAGGAAGTGAGTATGAGCGTAGAGTGGAACGGG___GGCGTCTCTGGCCGAGCCTCTTTTTGTGGAAAACGACAGCAGCAGCAGTGGCCTGGAAGACGCCACCGCTAAC___TGACCCCGACCTGGCCCCGCTCCAGGATGGGACTGCCGAGTGTGGCCCGGAGCTGGCCCGGGACAGCCAGGGCGGCAGGGAGGGCCCCTGGCCGGGAGCCGCAGCGCTCACTCATTTCTCCTGCGTCTGTGTGCATAGGACATGATACTAATAACCACACGGCTGGCGTGACCTTGGGGCTGGGGCTGGGCCTAAGCTGGTGCCCTGGTGCGGCGTGGTCTCTCCCAGGAGACCTGGGGCATGAGCTGGGCCCACGGCTCCCTTCCCATGTGTAACTTCCTCACGTTGTGTGCGATAACGTATTTTATTGTACATTTTTTTAAATTAAAAGTTTATATGCCTTATGCTTTACTTGAAAGTTTTTATAAGACCTCTTAGAAGTGGGGGAAGGCTGGCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTATTAAAGATACAAAGAATTAGCTGGGCGTGTTGGTGGGCGCCTGTAGTCCCACCTACTCTGGAGGCTAAGGCAAGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGCACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTGTCTTAAAAAAAAAAAAGAGAAGTGGGGGAAGGCCCACCCAGGAGCTGCTCTGCCAGGCCACAGCCATGTCTAGGGTGGGCTGGACATGGCAGCCGCTCCCCCTGCACAGGGTGGAATTTCCTTACTTGCCTTTGGTCAGGGGTTTACTCCCAAACGTCCCATCTTTTCTTCTGCGTCTTTTCTACTTCATCACTTCTCCCTCCCAGGATGATGTCTATAAACTAAGCACTGACAGCTCACAGCACTGCTGCCCCAGCTGCAGGGATGGGTCCCAGCCTCTCTTGCCTGCTTCTTGGCTACAGGACGGACTCCACTGGCCCCCGGTGAGTGGCCCCTGCTCTCTGCAAGGCCCTGCCATAGGTCCCTCCTCCAAGCCCAGCCAGTGTCTGCAGGGAAGCCAGCAGCCAGGCAGTGGTCAAGGATCTGAGGTCACCTGTCTGAGCTGGGTGCCCAGCAGGCCTTGGCCAGGTGGAGCCCCTGTGCCCCTAGTGAGGGCCGTCTTCCCCTCAGGGGCAAGGGGAAACCAACACAGCTATCTCACCAGGGCAGCAGCCTGGAGAGCAGGTCGCATCCTTCTCAGGGCGGTGGTCTCCTGGGGCAGCTGGTCAGGGGCCCACAGCCCAGAGGAGGTCCTTGCCACCCGCCTGGGGCTTCTCTTCCCCACTCCGTCTTCATGGGCAAGGTTGACAGATGGTGTACAGGCGCCCAGTTACATCTGAGTTTCAGATCATGAAGAAAGTTGATCTGAATATGGGCATCCTCATTCTAGAACACGCTTCAAAGCTGCCTGAGATTCAGATGTAACTGGGTGTCGCAGCCTGCCGCCCTGCCTGCCTGGCCCACAGCCACTCCTGGCCAGGATTCTGTTTGGCCAAACTGCCGTCAGGCTCCTGAGCCTCCTCCTAGGCCCATCTGTGCACGTCCTCATGAAATCCAGTTTTGGCAATCCCTGCTGAGATTGTAGCAGGACCCCTGCTCTCCGTATCCAGTCGCCCTCAGTAGCTGACTGGTCCATCCTCCACAGTCCCCAGAGGCCGTCTGATCCCCAAGGCACACCTTCAGCAAGGGTCCTGGCAGGATGCTTTAGCCAGAATTCCCTCCCCTGCCAGTTCCTCTCAGTCACTCTCCATCCTCTGACCCCACCTGCTCCTCGGGCGTAAACCCCCATGACCCATGCTGTGTTCAGAGCTGAGCCCCAACTCTCCCTGCCCTGCTGTGAGACCCCATTGCCGTGGTGGCTACACCTGCCCCAATGGTCCTGAATAGCTTGCCTTGGGGGTGTCATGGGGCTTCTCCCACACTCACCACATCGGCCACGTGCTCGATGAAGATCTGGCTGCCAAATCGGAGCTTCTGAAGCAGCTCTCCTGGAACGTCAGTGCGCAGCCGCGGCTGCTGGGCCATGAGCTGCTGCAGGCGCTTGTGCGGGAAGGCGTCTTCCGTGCAGATGTAGACGGCTCCTGGGAAGCAAGAGTGCCTGATGTGCCCAGGGGACTCCAGACGGGCCTGTGACTGCCACACAAATCAAGTGCAGATGTCTCCCGCCATTTCTAACTCTCTGCCCCTCACAGGTTCTTTGCCCCTCGCCTGGGGAGGGAGGAGGCTGGTGCTTTTTCTCACCCTCCCACTGGCAGCCACCTCCGGGGCCAGGTGACCCCTCAGGAGGAATATGGGCTGGGTCTCCACTTCTGACACCCAGGCAAGGACTTCCCCTGTCCTGGGCCCTGGGCTGGAATGGCCACAGATGGGAGGCCTCTCCTGCTCCACCCTGCCCCTCCTTCCCCCTGTGAACCTCCGTTCCCCACTGCAGGGCAGGGAGCAAGTGGCAGCATCAGGGCAACGCCTTCTGGAAATGGCCCCTGAGCCCCGACACATGGCCACCCTCAAGGCCCCCACTGAGCAAGCGTTTCCTCTCTTCAAAGCTCCTGCAATCTGGGCTCCATGGTGAAATTCAAAAAGCCAGCTTGAAAAGACACGTGTTGGTGAGGATGTGTAGGAGGCAGACCCCTGACCCCTGTGCACTGCCGCTAGGAATGTAAAATGGTGCAGCTCGGAAAACAATCGGTACTTCCTTAAAAAGTTAAACAAATCACATGACTCAGCAGCCCCACTCCTAGGTAGATACCCAAGAGAAAGAACGTCCACCGTAGCACGTTTCATGACAGCCCGGGGGGAGACGGCCCAAAGGCCATCAACTGAGGAGTGGACGAATGAAGTGCGGCCCATCCTTACAGTGGGATGATCGAATCTTAAAAGGGAAGGCAGTTCTGACACCTGCTCCAGCACGGATGAACCTCGAAAACACAATGCCAATGCAGGAAGCCTGTCACGAGACCACGTGCTGTCCGGCTGCACTTGCATGGAGCTCCCAGGACAGGAAGAGTCACAGGTAGGGAAAGGGGAGGCAGGCTGCTGGGGGTGGGGGCTGACTGCTCATGGGTAGGGTTTCCTTTTGGGGTGAGGGAACTGTTCTGGAATTGGATAGTGGTGACGGGCACAGAACTTTGTGCTTCTATTAAAAGCCACTGAATTTATTTATTTTATTTTAATTTTTGAGAGACAAGAGACTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAAGGCGTGCGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGTCAGGCTGCTCTCGAACTCCTGACTTCATGATCCGCCTGCCTCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGTACTGCGCCTATCAGGCCGAACTGTACACTTTTAGAGGGAATTTTATGGCATGTAAATTACATCTCAATTTAAAAAACAGGAAGGCTTAGGGGGACTGATTTGAGTAATAATAAAACTCCAGTTTCCTGCAAAACAAAAACAAAAAGACAAGGCCGGCGAGCTCTCTAAGCACTGACTATGCCAGGAAGGCTGCCCAGCCAGGACCCCGTGGCCCACGGGGCGTCGTCCTGTTCCTGCAGTGGCACATGCAGTTGTGGGAGAGCCAGTGCCCCCACGCCGTGTCATGCAGCCTGTTTGTGAGTGTCCGCGTAACCTTTAATTCTGAGCTGATTTTGCTTTGACAGAATTTCAAACGTAAAGAAGAGTTGCAAAAATGGGTCAGGAACCCCCCGCCCCATTCTGTGTCAGAACTAAGCTTCTGAGAAGCATCTGGCCCGCTTGAGGCCAGGAACGTATAAATACTGCCTTGGGAGGCCACATCCCTTTTGTGGCTGGTTCCCTTCCCCACCAGTGTCCCCAGCAGTGACTGTGCCCCTAGTCAGGAGCCACAGGAAGGTCGGGGCCCTGGGCTTCCTCCGTCCTGTTGGCTGGAGAGAGGCTGGGCTGGAAGGCTCGGAAGCAGGTGGAACCGGTCAAGCAGCGTGTTTTTGTTGGGGTGACGTTATGTAGGGGCTGCACAGTCATGGGGACATCGTGAAGCTGGCAGGAGGGTGGCTGTGGACAGCCCAGCGGTGGGCGGGGCCCCAGCAGGCCTGGGAGAGCCTCACGCGGCTTAAGCACGGGAGTCGGAATCACTTCAGAGCCCGCCTGCCGCTTTCTTTTCAAAATTCGGGCCTTTAGATTGGATCCAGGAAAGGAAGTCATTTCCCCAGGAAAGCACATCTGACCCCTAACCTTGCATGTGGTCACGGTGGCCGTGGGGCCCCCTCCCTTCCCCTGGCCCGCAAGGCTGGACTGTGCTGTCATCCCGCAGCAGTCACTGGGCTGGGCACAGCTGGGGGATTCAGGGAGGGTGTCCTAAGGCTTCTGTGTCCCTGGGTATCGGGGAGTGTGGGCTTCACTGAAAAGGCCAACGGGGTGGAAGCTGAGGGGGAGTCATTGCACAAATCAGATTTGCACGAAGCCTGGCACGGAGGACGCTGGAGAATGAGGGCGGCTCCCGTCCCGTTCCTGAGCACGCTCGAGTCCCGCCTCCACCTCACAGCAGCTCTTCCGTGCGGTAAGCGGGAGACTCCCATTTTCAAGGCCAACTCCTGTCCTCCCGGCTTCTGGCTGTCTCCAGGCTCATCCCCAAGACCAGCCGCAGGGACTCAGGCACCTGACAAGAGGGTGCCCTCCCCTGGGCTGCAGGGACAAAAATGCCTGTGGCGTGAGCAGACCCCAGCTGGGCTCTCAGGAGACCCCTCACCCTCCACCCGACACGGAGGCTCAGGAGACCCCTCACCCTCCACCCAGCACTGAAGCTCAGGCAGGCACAGCACACCCTGGGTCCTGGGGATGACGCTGACCTGAGGGTGGCAGAGGTGAGGTTCCCAGCCACACCGCTGCTGGCAGGTCAGGCCCGTGAGGAGGTGGCTGGCTGGGCCTGTGGGTCCAGGGCCTGGGGTCCGGCCCTGTGTGGGAAGTGAGCCTAGCAGATGTGCTCGGAGGTGCCACCGATGAAAAAATACTGCCACTCTGTTCACGTGGAGTTTAAGACAACGTGGGAATCGCATGTTGACACCAGGGAATTAGTTTAAAAGTTAAGGAGCTACTGAGAAACATCTCTCCTCCTCACAGCTCACAGTTTAAAACTACGTGAACTTTTAACACCTGAGAGACCCAGGCAGGCATGCTCTGAACGCTTTAGTCCAATGCAGGGAACCCTCGTTTCACAGACAGAGCGTACAGGCTCACGGGGCCGCGCCAGGAGCATACCTGGCCTGGCGGCGGGGCACCCGGGGAAAGGCTGTGCTGCCCTCCCTGCGTTGCTGGCTCTGTGGACTCTGGGCTTGGCAGCTGTGCGGAACGTGGGCCGGCATCGCTGTGCTCAGCCAGCGACCCCTGGGGGCCTAGCTCTGCTGAGGGCCGGCTGCCTGGTGGTGGGGTTCGTACCCTCCCACCCCTCCTGCTGTCAGCTGAGCCCAGCCTCACTTCCCCCTCCCTGTTCTGGAAGGAGCGAGGGCAATCAGGGTGAGAAGGAGGGAGACGCAATGGTAGGAACAGCGCAAGAGGCGGCCACTGCCCCACCTCAACGGAAAGCTGTCCCACACAAAGCAGGGGCCGCCCACCTGCCCAGACCCCACGGAAGGGGTGGCCACTCACCAGCCTCCAGGCCTCCGTGCTGCCGCGGGAACTGCACAGCCAGGCAGAGCTGCAGCGCCAGCTGGGTCTTCCCTGCCGAGCTGCGTCCGGCCAGCTCAGTGATGCCGTCCAGGGGCAGGCCACCGCGGAGCAGCGCGTCCAGCACCGGGCAGCCCAGGCTCAGGCGCTGGTGCTGCGTGGGGAACCGCTCCTTCTGCTGGTGCAGCTGCAGTGCTAAAGGGCAGGGATAGTGTCAGGCCTGACTCTCCTGGGCCTGCGGGCAGGGCTGGGGACTGCGGGAGGCATGGTCAGCCTGCCTGTGCCAGGTGCAGTGTGGCTGGAGCACAGGTGCCTGCGGTCATGGGGGTGAGCAAGGTGCTGAGGGCAGGGAGGGGGGCCCAGCCGGGAAGGGCGGGTGCACCTGAGATGCAGAGTCAGGGGGAGCCCCAGGGCCACCATCACATGCCCGCAGGGATCCCCCTATGGGGCAATTGCAGCACCAGACGCCTTCAGCCAAAGCTTCCAGAGAGCCCCGAGGCGCTCCCTAACAGCCTCCATGTGAAGAAAAAGGCACAGCTCTGTCCAGCTGGGATGCCCTGGGGTGCTGAACAGTTCTCAAGCGGCTTTAATGGGCTCCCGCAGGCGCGCACACATGCACACCACATGCCGTCAGTTCTCTGTGACAGATACCATTCTGGAGCAATGCTGGTCTCAGCCTCTTGGCTAAAGGGCCTTGGATGAGCCATTTGACACAGCCTCCTCCACGACACCGAAGCCCCTCAGGGCAAGGCTCAAGGTGGGACATGCGGTGCAGGCTGCGCTCTTGGCCTGGGGCCTGGGCCGGGAGGAGCAGCCCCTCCCTTGGAGTCTGCACACTGCCTTGGGCACCCCGTCCAGGTGGAGCAGGCCACCCTGACTGTGAGGCCTGCCCAGAGCCCTGCCCACAGCACCGTGTGTGTGGCCGTGGCACCTGCCCACCACGGCAGCCCCAAGTTCAGCACGTTCCTCGGGGCCTGGGCCACTGAGCCACCTGCAGGGGAGAGAGGGCCCTGCTCATGCCAGGACCCCGCTGCCTACTAGGGCCTGCTGAGATGCAGGGATGGAAACCTTGTCCGTCCAGGCGCATGGGGTTCCCTGGGTACCTCCTTCCCCTGCTGAGACCTGGTTTCCCACACGTGGTGGTGGGACCGTGGCCAGGGCCCCATCTCACACCGTTCCCACCCTGCCAGAGCCTGAAGGGCTCTGGGTGCTGACTGCCAAATCCACCCCTGCTTCCTGCACCCCCTCCTCTGGTCCATGGAGCAAGGTCCCCAGGAGGTCCCACAGCCCGTGTCCACCTCACGCATCTTCTGACCCGATGCTGTGACCACAGCCCCATGGGTGTAGGACAAGCAAGATGGGAACTCTGGGGCTGGAGCAGCTGCCACACGCCCTGAGGCTGGTCCCTGGGTGAAGTCTGCACAGCCCCTGCCCTGCACCACTGGGACCATGATGCTGGAGCCACATGTCACCCCTGGCAGAGATGCCAGGGCCCACCTACCTGTAAGGATGCTGCTTCCCCGCAAGTGTAAGGAGGCCGTTCTCAGCAAGTGCCAGACCTCGGGGCTGGAGAGGTTGGTCAGTCTCTTCAAGTCTGGTCCAGAAAAGTGTAAAACCTCCTTTACCGATTTCAGTTTGGCTGAAATAACACAGATAAATTACAGGAAAATGTCAGACTGTCACAACGCAGGGCAACACAGTGACAAAAGGTGCTTTGTTAAGAGCACTGTGAGAGCACCGTGCTTCCGATTCTGGGGACAAGGTGGGTAGGGACCGGATCCCCTGCTCCCTGGAAACCCTGGACACAGTGTGGCCGATGCACAGGCACGAGGAAAGGGCTGCTGGACACTGCGCCCTGAGTCCTGGCACTCGGACAGATACCAGCCTCGTGAGCTGGGGCAGAAGCCAGAAGACAGGGCTGGGCAGGTCCCGGTGCTGAGAGCAGGTTCCGGTACTGAGAAGAAACGACAGGCACCCAGTTCCATGCCAGCTGGAGACAGTGCTCCAGAAGGGGGCAGGAAAAAACCAGCACCGAGCTTTCCACCACCCGCCCACCAGGCATGGATCTGGGCTGAGCCGCGGGAGAGGACATGTGCCCTGGGGAGGGGAGCGCTGGGAGGGTAGCAGAGCCCAGGTCCAAACGCCAGCTGCGCAGGGCAGTCAGGGCAGGGGGCAGAGCATGTGCGAATCAGAACGGCGGTGGCAGCAGTTACAGGGGTGCAGATCCCCAGGACCTGCCATCTGGGGAGGAGGGCAAGGAAGTTAATTTTGGACTCAGATAAGTGCATCACTTTCTAATTTCAAACTTGTAGAAAGACGACAAATGCTGCAGACTGATCAGCCGATCAGGGAAGTGCGAGGAAGCGCACACGAGAGGGAGCAGTGGTGGACGAAGCGCCCCACCCGGCCACGGGGACTTACACCCACCACATCAGAAACCCCCTCAACACGGGTGCGCTGAACGCTGCAGTGAAAAGACAACCATTGTGCGGCTGGAAAACAGTAAGCACTGGTGTGATCTTCAGAAAAGCCACACAGAAAACACAAGGAGATGGAAGGGTGGGAATGAAGAAAGCGCCCCTGGGTTTCACCAGATCCAGCGGAGGGGGCTTCCCGCAGACAGGCTGCTCCAGAAGGCTCTGTGGGCCCTGAGGACTCACCGGGATCGGGGCTGTGGCAGGGCGCTCCCCCTGGTAAGCCTCACAGCCCCAGCCCCCTTCACAGCCGTGAAGTCTGCAGGGACTTCTGGAAACATTGGTTTTTGGATAAGAGACACAGGTGAGAAAGGAACTCCCTGGCTGAGCCCTTCTCTGTCCCTGGTCTGCAAGCGTCGTGTCTGCAGCTGTGGCAGCAGCTGTGATCACAAGGCCACCAACAGGAGGATAAAAACCAACAGCCAAGGATGGAGGGTCAGGACAGCGAGGCCCTGCCCTGTCACCAGGCTGCTGCGGCAGCTCCATGAGCACTCCGGCTTCTCGCCACAGACAGCGTGCTGAGGTTCACGTAGCTGAGGCCCGGGGAGACGGGGGAGGATGGAAGCTGGCAGGAGGGTCCCCGGATGACAGCCAGGCGGCTGGCATGGGGAGCAGGGGGCAGGGGCTGCACGTGGGGCCTGAGTTTTGAGCATTTACTAACTCGGGCGAAAAAAGATGCTGTAAGAAAGAAAACCATCCCCTGCACCACCACACCAGGTTCAACAATGGCCAGTATGCACCCAGTCACAACCCTGACAGCTGATGTCACCCAAACTAGGTTCTAAGTATGGGCAGGGAGCTGGGGGGAGAGGAAGTTGGGGTACACAGGTGTAGGCACGCTCAGTCCTCACAGCCCCCAAGAGAAGTCCATGGATAATCAGTAACACTGACAAATCAAACATTACAACATAAACACGTTTAGGAGCCCAGATGTAAATATTTTTTAAAAAAATAACTAAAAGACGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAAAACAGTGAAACCCTGTCTCTACTAAATTTACAAAAAAATTAGCCGGGCGTGGTGACTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCCGGGAGGCGGAGCTTGCACTGAGCTGAGATCGCACCACTGCACTCAAGCCTGGGTGACAGAGCGAGACCCCGTCTCCAAAAAAAAAAAACTAAAAGACTTTATGTGGCTCCATTTTACCTTTTAGACAATATGCATGTATTACTTTGATAAAAATAAAAGTAACTGAAAGAAATCCATGTAGTTAAGAACACACACACACACACACACACACACACACCTGAAAATCCCATAGTACATCCCGCCCTCGGTTTAATAATCAGGGTAGGCAAAGGAAGGAAGGCTTAGCCAGCCAGCGTTTTGTTAACCTGCCTTATATAAACTGCACACACCCACCCACACCCTTTATGTAAATAGAAATAAATGTACCTTTCTTAATTGCAGCAATAATTCTGGGATTCAGGTCCAGTAGATCCAAATCCATTTTGTCGGTGGGCTGGCCACCAGGATGAATAACTTCCCAGGAAAGACAGAACAATGGATGCAAATTCTGAGGCACTCGCCTTCAATTCAAAGCCTGTGGGAGGCCCGAACCAGGGAAGTGACAGCAGCCGAGGTGTCCGTGTCATCGGGGCTCTGTCACTGAGGGTGGAGGAGACTTCACTGTAGAGGGAAGGCTGTCTAGCTACATCTAGGGCAACATGTCTGTCATTTACCTCTAAGAATTATTTAGCAGCTTAGAACCCATTCCAGACACTGATGCATTTGAAAAACCCCCCAAACCCACCACATTTACCTCCTGTGGAAAGTGCTAGAAATAAGACCATCCTCCTGCAGCAGTTGAGTGCCCTGCCCGACTCACCTCTCTGGGGCTTGGGGATGACCCGCGTGTTTTTGGCTGACTTGACTGAGGCATCTCTTGCACTCTGCAGTTTAATTTCCCTTAAGTGTCTCCCTGGGGACTCTGGAAAGAGTGGGAAGGTGAGTCTGGGATTGGCAGGGTGCTCAGGGATCCAAACATCAGTCGCCCCCAGCAGCCAACAGCAGAAGACAGCTTCCTGTGGGACGGGAGGAAGGTGCTGTGGACCCCACCCAGCCTCTCCCAGGAAGGGAGCTGGCAGCCATTCCACAGCCCGAGCCTGGCCCAGCAAGGGAGAAGCTCAGCTCTTCTCCCCTCCGGCCTCAGCAGGCTGCTCAGGGACTCAGCCTGGGGTCACATAAGGCCTTTCCAACAGGCCACTCTGCATCCCCTGTCGGCCTCCCAAATGGTGAGACCAAGAGTGTCCAGGACATGGGGAAACTGGAAGGCAGCAGCCTCGAGGGCCGGGTCCAGGATCCATGTCCTCCAGTGAGGCCTGGCGCCCTTGGCCGTAACCCAGCAGAGGAAAGGGCGGGCCGTGGACTTGGAGAAGGTTTTCCCTTGGACCACACAGAATGCGGCACTGGCCTGGACACGATCACGCTGGTCACTCGTATGCCCATGTTCAGCCTGCTCAGGGAGACAGGAACAGACTACAGGAGCAGCAGGCTGAGGCACGCCCCCAGGCACCCCGTGAGGCGGGCAGGGCAGGGAAGCTGGTGCTCCAGGATGCGTTTCCTGCCCGCGCACCAGGCTTGGCTCCCGGGCCCCCACAGCCTGTGGGTTTTCTGAGCAAGGGACAGGGAGGTGCCCAGGCCTGGTTGCCCAGGCAGGCCTGACAGGAACTGGCGAGAAGCCACCCTGGAGGGCCGGGCGCAGGCCAAGGCAGGGCGGTGGGGCGCTGAACCAGCTCCAAACTGCTGGCAGAGCTGGCCAGAGTGAGGAAGTGAGGTTCCCAAGCACAGAAGGCAAATCAAAAAGGAATGCCACCTCCAGGGAAGACACTACACTGCCAAAGGAGATGCGGCCTTGCCCGGCTCGAAAAGAGGTCATTTTCAGAACATGGGACTCTCCAAGCCCTGAGGACAGGAGGCAGCCTGGGGAGTATGAACCTCGCACCTGGTAGGGGACCCCACACCCGAGGTACCACCCAAAACACAGCCCAGATCTGCACGGAGGGATGGTTCCCTGAGCAGGCGTGACTGTCACAGACAGGCTGGGCCTGGGGGCTGTCGGGAGGCTGCTGTCCCAGGCTGGGTCTGGATACAAAACTTGGACTGTGTCAAGCAGCGGGACGCTGGCAGGAGCACCGGGAAGGCCAGCACGTGGCTGCAACGTCTCCCGCCTTCAGGACGCGGGCCGAGGCCAAGGCACCTGGAAGCAGAGTGTCCACTGACGGATAACAGACTCACCGGTTGGCCAACGGCAGTCCGGCTCCTGAGGCTCCTCCTGGGCCCTCTGTGCACATCCTGCTGAGAACTTGGTTTAACAGGCCTGGCTCAAAGTCTGTTTAGTGACGACCTCCTCCCGTGTCCCATCACCCTTGACAGCTGATTAGGCGCCTCATCTTCCACTGTCCCCCGGGCGGCCTGATCTGGCAGGTCAGTTGAACCTGCATCCCCTTCGCCCCTGGGGGTTCCTCTTAGCAACCTTCCATCCTCTGCCCCTGCCCAGCTCTGGAGCTGTAAGCCGCCACCAGCCCATGGCCTGTTCAGAGCTGAGCCCAGCCTCTCTCCCACTGCAAGACCGCAGTGTGGTGGTTCCCACATCTCTCAAAGGTTCTGAATGAAAGCCTGGTCTCTGCCTAACGTGCTTTCACAGATATCCTGGAATATTTTCCCTTTAACACCAAGCACCTGCCGCATCCCAGACACTGGCCTGGGAGCTCCACAGACAGCCCGGCACATGCCTCTGTCCTCTCGCCGCTGTGAGGGGCAGGGGTGTGACCAGCCCATCTCTCTACACCGGGGTGAAGGCCACACACAGGGAGCAGCCCACAGCAGGCAAGGGGCTGGCCCAAGACAGACCTGTATGTCTTCCTGCAGCACCCGAGCTGAGCAATGACTTCAGGGGGAGAGCTGATGTCACGTGCTGCTAGGTGAGTACGGACGGTCACACCAGAGCTGTTAGGCTCACACACCAGACTCTGGAAATGCCGTGGTTACTGCCTGGAGCTGCTCTGAGCCTTCCGAGGTGGACTCACTCCTCTGCCTTGGGCCCTGGGACCTGCTGTGTAGCTTTGAAGTGATTCACAGCACTTACATAGTCTGATGTTTTGGGGTGACCTGACCCCCCTGCAAGAGTGTGATGTCTTATCAGACCACATATGTGAGGACTTGAGTGAACTCCGCAACCTTGGGAATGCCACTTAAACCTTGTCAGACACTCCCTTATGTGAGTTACTGACCCTGACTGCTGGACTGCAAAAACAGACATCAGCTTGAAGGTTGTGCAGATGCTTTGAGGCAAGCTATACGCTGCTGGCCTGGGAGCTGGACCTCGGTCCCAGCTTCTCAGAGAGCTCCCGCTCTCACGCTCTCCACTGCTACCAAGGCAAACCTCGAACTCTCACCAGATCTCACTCTCCAGGGGCCCGCTCCATCCCAGCAGAGCAACCGGACCCTGGCCGTTCTGCCACTCACCTCCCTGCCGTGAATGCACCCCATCCATGGAGGCCCTGCTTCCCTGCCAGGTGTCTTCACCTCCTCCCCTCTCCTCCCCTCTGAGCACTGTGAACCCGAGAACAAATCTTCTTTGACAATAAACCGTGTGATTCGTGGAATCATA)$ MSTRTPLPTVNERDTENHTSHGDGRQEVTSRTSRSGARCRNSIASCADEQPHIGNYRLLKTIGKGNFAKVKLARHILTGREVAIKIIDKTQLNPTSLQKLFREVRIMKILNHPNIVKLFEVIETEKTLYLIMEYASG|ecmttcpqwct* 01BR027 ENSG00000075413.18 ENSG00000256500.6 +/+ +/+ chr14:103451983 chr14:103654564 CDS/splice-site CDS/splice-site deletion/read-through 4 5 1 84 60 medium out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000075413.18 ENSG00000256500.6 ENST00000429436.7 ENST00000472726.3 downstream upstream mismatches(1) ^(GGCTCCGTGAGGCTCTGAGGTGCCGGGGTGCGGCGGCGGCAGCGGCGGCCAGCAGGGCGGAGGCTGAGGCAGCAAGCTCGCTAGAGAGGGAGAAGCAGTCGGGCGCAGGCGCCTCCTCCGCAGCCCGCTCCATGGTCGGCGCCCACAGCCCGCGGCGGCCTGTCTTGCGCTCCACTTCCTTCACATCCTCCTCCGCCTCCTCGTTTTCAGGCGCCGCCGGCGGCGCTGTGTGGAGGCCCGCGAGCTGAAATTCGCGGTGCGACGGGAGGGAGTGGAGAAGGAGGTGAGGGGGCCCAGGATCGCGGGGCGCCCTGAGGCAAGGGGACGCCGGCGGGCCGAAGCGCAGCCCGCCGCCCGCAGGCTCGGCTCCGCCACTGCCGCCCTCCCGGTCTCCTCGCCTCGGCCGCCGAGGCAGGGAGAGAATGAGCCCCGGGACCCGCCGGGGGACGGCCCGGGCCAGGCCCGGGATCTAGACGGCCGTAGGGGGAAGGGAGCCGCCCTCCCCACGGCGCCTTTTCGGAACTGCCGTGGACTCGAGGACGCTGGTCGCCGGCCTCCTAGGGCTGTGCTGTTTTGTTTTGACCCTCGCATTGTGCAGAATTAAAGTGCAGTAAAATGTCCACTAGGACCCCATTGCCAACGGTGAATGAACGAGACACTGAAAAC___CACACGTCACATGGAGATGGGCGTCAAGAAGTTACCTCTCGTACCAGCCGCTCAGGAGCTCGGTGTAGAAACTCTATAGCCTCCTGTGCAGATGAACAACCTCACATCGGAAACTACAGACTGTTGAAAACAATCGGCAAGGGGAATTTTGCAAAA)GTAAAATTGGCAAGACATATCCTTACAGGCAGAGAG___GTTGCAATAAAAATAATTGACAAAACTCAGTTGAATCCAACAAGTCTACAAAAG___CTCTTCAGAGAAGTAAGAATAATGAAGATTTTAAATCATCCCAATATAG___TGAAGTTATTCGAAGTCATTGAAACTGAAAAAACACTCTACCTAATCATGGAATATGCAAGTGGAG|AATGTATGACAACATGTCCACAATGGTGTACATAAAGGAAGACAAGTTGGAGAAGCTTACACAGGATGAAATTATTTCTAAGACAAAGCAAGTAATTCAGGGGCTGGAAGCgTTGAAGAATGAGCACAATTCCATTTTACAAAGTTTGCTGGAGACACTGAAGTGTTTGAAGAAAGATGATGAAAGTAATTTGGTG(GAGGAGAAATCAAACATGATCCGGAAGTCACTGGAGATGTTGGAGCTCGGCCTGAGTGAGGCACAG___GTTATGATGGCTTTGTCAAATCACCTGAATGCTGTGGAGTCCGAGAAGCAGAAACTGCGTGCGCAGGTTCGTCGTCTGTGCCAGGAGAATCAGTGGCTACGGGATGAACTGGCCAACACGCAGCAGAAACTGCAGAAGAGTGAGCAGTCTGTGGCTCAACTGGAGGAGGAGAAGAAGCATCTGGAGTTTATGAATCAGCTAAAAAAATATGATGACGACATTTCCCCATCC___GAGGACAAAGACACTGATTCTACCAAAGAGCCTCTGGATGACCTTTTCCCCAATGATGAAGACGACCCAGGGCAAGGAA___TCCAGCAGCAGCACAGCAGTGCAGCCGCGGCTGCCCAGCAGGGCGGCTACGAGATCCCCGCGCGGCTGCGGACGCTCCACAACCTGGTGATCCAGTACGCCTCGCAGGGGCGCTACGAGGTAGCTGTGCCCCTCTGCAAGCAGGCCCTGGAGGACCTGGAGAAGACTTCAGGACACGACCACCCGGACGTGGCCACCATGCTCAACATCCTGGCCTTGGTGTACAG___GGATCAGAATAAATACAAAGATGCAGCTAACCTACTGAATGATGCCTTGGCTATTCGTGAGAAAACTTTGGGCAAAGATCATCCTGCG___GTGGCGGCGACTTTGAATAACCTTGCAGTCCTTTATGGTAAAAGAGGGAAGTACAAAGAAGCAGAGCCGTTGTGTAAAAGAGCTCTGGAAATCCGAGAAAAG___GTTTTGGGGAAGGATCACCCCGATGTTGCCAAGCAGTTAAATAACTTGGCCTTACTGTGCCAGAACCAGGGCAAGTATGAAGAAGTAGAATATTATTATCAAAGAGCCCTCGAGATCTACCAGACAAAACTGGGACCTGATGACCCCAACGTGGCTAAGACGAAAAATAACCTG___GCATCCTGCTATTTGAAACAAGGAAAGTTCAAGCAAGCAGAAACACTGTACAAAGAGATTCTCACTCGTGCACATGAAAGGGAGTTTGGTTCTGTAGATG___ATGAAAATAAACCCATCTGGATGCATGCTGAAGAAAGAGAAGAATGCAAA___GGAAAGCAAAAGGATGGGACATCTTTTGGAGAGTATGGCGGCTGGTACAAAGCCTGCAAAGTTGATAG___TCCAACTGTTACAACCACTCTAAAAAACCTTGGGGCACTTTACAGACGTCAAGGCAAATTTGAAGCTGCAGAAACGTTAGAAGAAGCTGCTATGAGGTCTCGTAAACAG___GGTCTTGACAATGTTCACAAACAGAGGGTGGCAGAAGTGCTCAATGACCCTGAGAACATGGAGAAGCGCAGGAGCCGTGAGAGCCTCAACGTGGACGTGGTCAAGTACGAGAGTGGCCCTGACGGAGGGGAGGAAGTGAGTATGAGCGTAGAGTGGAACGGG___ATGAGGAAAATGAAGCTCGGGCTGGTTAACTGACTTGCTCAGCGTCCCATG___GCCTAGCCGCCCGTGACTCTCACACTGTCTCCTGCATGACGGGTGGCGCCTCCCGCAGCTTCCCTTCTCTCTCCAGTGCTGCCCGCTGTGTCTAGCAGCCTCTAGGATCTTGTCAGAGCTGCACCTCTCTGTGAACTGGCCATTCCTTTCGGTGCTGCTGTCCTTTTTGGGGGGGTTCCTGATTTCTGTATACATGTAGCTTTGCCAGATATGTACTTAGTAATATAAACTGTATTAATAAAATCCATTTACTGTGTAATACACGAGTTTAAAAATTAAGAGCGATT)$ MSTRTPLPTVNERDTENHTSHGDGRQEVTSRTSRSGARCRNSIASCADEQPHIGNYRLLKTIGKGNFAKVKLARHILTGREVAIKIIDKTQLNPTSLQKLFREVRIMKILNHPNIVKLFEVIETEKTLYLIMEYASG|ecmttcpqwct* 01BR027 ENSG00000004478.8 ENSG00000283297.2 +/+ -/- chr12:2803283 chr12:3276045 3'UTR 5'UTR inversion 0 7 2 1650 31 medium stop-codon . FKBP-type_peptidyl-prolyl_cis-trans_isomerase(100%),Tetratricopeptide_repeat(100%)| . . ENSG00000004478.8 ENSG00000283297.2 ENST00000001008.6 ENST00000637658.2 downstream downstream duplicates(1) ^(CCTACCCCAGCTCTCGCGCCGCGTGCAGAGGTGCTCAAGCCTCCTCGCGGTCCGCAGTCAGTGCCGCCGCGCCCGGCCTCCCGCACGCCCCGCAGGTAGCGCCCCCGCCCGCGGCCCAGAGTGCGCTCGCGCCGGCACCAGCTCCCGGATAAACGGCGCGCCGCGCGGAGATGACAGCCGAGGAGATGAAGGCGACCGAGAGCGGGGCGCAGTCGGCGCCGCTGCCCATGGAGGGAGTGGACATCAGCCCCAAACAGGACGAAGGCGTGCTGAAG___GTCATCAAGAGAGAGGGCACAGGTACAGAGATGCCCATGATTGGGGACCGAGTCTTTGTCCACTACACTGGCTGGCTATTAGATGGCACAAAGTTTGACTCCAGTCTGGATCGCAAGGACAAATTCTCCTTTGACCTGGGAAAAG___GGGAGGTCATCAAGGCTTGGGACATTGCCATAGCCACCATGAAGGTGGGGGAGGTGTGCCACATCACCTGCAAACCAGAATATGCCTACGGTTCAGCAGGCAGTCCTCCAAAGATTCCCCCCAATGCCACGCTTGTATTTGAG___GTGGAGTTGTTTGAGTTTAAGGGAGAAGATCTGACGGAAGAGGAAGATGGCGGAATCATTCGCAGAATACAGACTCGCGGTGAAGGCTATGCTAAGCCCAATGAGGGTGCTATCGTGGAGG___TTGCACTGGAAGGGTACTACAAGGACAAGCTCTTTGACCAGCGGGAGCTCCGCTTTGAGATTGGCGAGGGGGAGAACCTGGATCTGCCTTATGGTCTGGAGAGGGCCATTCAGCGCATGGAGAAAGGAGAACATTCCATCGTGTACCTCAAGCCCAG___CTATGCTTTTGGCAGTGTTGGGAAGGAAAAGTTCCAAATCCCACCAAATGCTGAGCTGAAATATGAATTACACCTCAAGAGTTTTGAAAAG___GCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAG___GAAGGTAAATACAAGCAAGCTTTACTACAGTATAAGAAGATCGTGTCTTGGCTGGAATATGAGTCTAGTTTTTCCAATGAGGAAGCACAGAAAGCACAGGCCCTTCGACTGGCCTCTCACCTCAACCTGGCCATGTGTCATCTGAAACTACAGGCCTTCTCTGCTGCCATTGAAAGCTGTAACAAG___GCCCTAGAACTGGACAGCAACAACGAGAAGGGCCTCTTCCGCCGGGGAGAGGCCCACCTGGCCGTGAATGACTTTGAACTGGCACGGGCTGATTTCCAGAAGGTCCTGCAGCTCTACCCCAACAACAAAGCCGCCAAGACCCAGCTGGCTGTGTGCCAGCAGCGGATCCGAA)GGCAGCTTGCCCGGGAGAAGAAGCTCTATGCCAATATGTTTGAGAGGCTGGCTGAGGAGGAGAACAAG___GCCAAGGCAGAGGCTTCCTCAGGAGACCATCCCACTGACACAGAGATGAAGGAGGAGCAGAAGAGCAACACGGCAGGGAGCCAGTCTCAGGTGGAGACAGAAGCATAGCCCCTCTCCACCAGCCCTACTCCTG|TaGGGACGACTCATACCAGGAGGCTACGGAGGAGCG___GTACCGGCACATATCCGCTGGTGGGAGGTTTGAACCCCAGGGCCTCCAGCTCATGCCCAACCCGTTTCCCAATAATTTCGCCAGGAGCTGGCCCTGCCCAAACCCTCTGCCTCACTACCAGGAGAAGGTGCT(AAAGCTGGCCTTGCTGCCCAGCGCGCCCCTGAGCCAGGACCTCATAAGGGATTTCCAAACCCTGATAAAGGACAGAACTGCCTTACCCCTCCACCATCTCTCCAAGGCACAAGCAAGCAAATCCCCAGCAAGGAAGAGGAAGAGAAGACCTGGACACTTCTAGAAGGGCTTCCAGAGGGGACGATCGTGATACCCAGAGCCCCAGGCTCCAGTGTTCTCAATCAATGCTCCTTCAGCAAGAGGCCCTGGGGTAGCAAAAGGACTCTGGCTTCTGCAGAACAGCCTCTCCACCATCCTCCCAGCCTCAAGCCACCTCTGTACCCCAGGCTATTGGAGATTCAACTGAAA)$ . 01BR027 ENSG00000182704.8 ENSG00000139083.11 +/+ +/- chr11:76783404 chr12:11822325 5'UTR/splice-site intron translocation/5'-5' 0 8 0 4 35 medium . . . . . ENSG00000182704.8 ENSG00000139083.11 ENST00000333090.5 . downstream downstream . ^CGGGCCGCCGGGGTGAGCGTGCCGAGGCGGCTGTGGCGCAGGCTTCCAG|GCTGAATGATCATCTCACCTGGCCATGTGCCAGGGGAATTCCCATCACTACCATCAAAACACAGTTGGGTCTAACTGCTGAGCACTCATTTTGTCCACCTCTCCGTTCACTCACCCACTCACCCATCCGTCTAACCTAGGAGATGCCCACTATGCCTCGCGTCCCGGATCAGGCGCAGGGCATGTCAAGGTGAATGAGACTGGATTTTGCGGTCTGGAAG . 01BR027 ENSG00000100345.22 ENSG00000100353.18 -/- -/- chr22:36286718 chr22:36520688 CDS/splice-site CDS/splice-site duplication 1 7 0 979 529 medium in-frame . Myosin_N-terminal_SH3-like_domain(100%),Myosin_head_(motor_domain)(100%),Myosin_tail(100%)|Eukaryotic_translation_initiation_factor_3_subunit_7_(eIF-3)(100%) . . ENSG00000100345.22 ENSG00000100353.18 ENST00000216181.11 ENST00000216190.13 upstream downstream . ^(GCAGATCACCGCGGTTCCTGGGCAGGGCACGGAAGGCTAAGCAAGGCTGACCTGCTGCAGCTCCCGCCTCGTGCGCTCGCCCCACCCGGCCGCCGCCCGAGCGCTCGAGAAAGTCCTCTCGGGAGAAGCAGCGCCTGTTCCCGGGGCAGATCCAGGTTCAG___GTCCTGGCTATAAGTCACCATGGCACAGCAAGCTGCCGATAAGTATCTCTATGTGGATAAAAACTTCATCAACAATCCGCTGGCCCAGGCCGACTGGGCTGCCAAGAAGCTGGTATGGGTGCCTTCCGACAAGAGTGGCTTTGAGCCAGCCAGCCTCAAGGAGGAGGTGGGCGAAGAGGCCATCGTGGAGCTGGTGGAGAATGGGAAGAAGGTGAAGGTGAACAAGGATGACATCCAGAAGATGAACCCGCCCAAGTTCTCCAAGGTGGAGGACATGGCAGAGCTCACGTGCCTCAACGAAGCCTCGGTGCTGCACAACCTCAAGGAGCGTTACTACTCAGGGCTCATCTAC___ACCTATTCAGGCCTGTTCTGTGTGGTCATCAATCCTTACAAGAACCTGCCCATCTACTCTGAAGAGATTGTGGAAATGTACAAGGGCAAGAAGAGGCACGAGATGCCCCCTCACATCTATGCCATCACAGACACCGCCTACAGGAGTATGATGCAAG___ACCGAGAAGATCAATCCATCTTGTGCAC___TGGTGAATCTGGAGCTGGCAAGACGGAGAACACCAAGAAGGTCATCCAGTATCTGGCGTACGTGGCGTCCTCGCACAAGAGCAAGAAGGACCAG___GGCGAGCTGGAGCGGCAGCTGCTGCAGGCCAACCCCATCCTGGAGGCCTTCGGGAACGCCAAGACCGTGAAGAATGACAACTCCTCCCGCTTC___GGCAAATTCATTCGCATCAACTTTGATGTCAATGGCTACATTGTTGGAGCCAACATTGAGACTT___ATCTTTTGGAGAAATCTCGTGCTATCCGCCAAGCCAAGGAAGAACGGACCTTCCACATCTTCTATTATCTCCTGTCTGGGGCTGGAGAGCACCTGAAGA___CCGATCTCCTGTTGGAGCCGTACAACAAATACCGCTTCCTGTCCAATGGACACGTCACCATCCCCGGGCAGCAGGACAAGGACATGTTCCAGGAGACCATGGAGGCCATGAGGATTATGGGCATCCCAGAAGAGGAGCAAATGG___GCCTGCTGCGGGTCATCTCAGGGGTTCTTCAGCTCGGCAACATCGTCTTCAAGAAGGAGCGGAACACTGACCAGGCGTCCATGCCCGACAACACAG___CTGCCCAAAAGGTGTCCCATCTCTTGGGTATCAATGTGACCGATTTCACCAGAGGAATCCTCACCCCGCGCATCAAGGTGGGACGGGATTACGTCCAGAAGGCGCAGACTAAAGAGCAG___GCTGACTTTGCCATCGAGGCCTTGGCCAAGGCGACCTATGAGCGGATGTTCCGCTGGCTGGTGCTGCGCATCAACAAGGCTCTGGACAAGACCAAGAGGCAGGGCGCCTCCTTCATCGGGATCCTGGACATTGCCGGCTTCGAGATCTTTGAT___CTGAACTCGTTTGAGCAGCTGTGCATCAATTACACCAATGAGAAGCTGCAGCAGCTCTTCAACCACACCATGTTCATCCTGGAGCAGGAGGAGTACCAGCGCGAGGGCATCGAGTGGAACTTCATCGACTTTGGCCTCGACCTGCAGCCCTGCATCGACCTCATTGAGAAGCCA___GCAGGCCCCCCGGGCATTCTGGCCCTGCTGGACGAGGAGTGCTGGTTCCCCAAAGCCACCGACAAGAGCTTCGTGGAGAAGGTGATGCAGGAGCAGGGCACCCACCCCAAGTTCCAGAAGCCCAAGCAGCTGAAGGACAAAGCTGATTTCTGCATTATCCACTATGCCGGCAAG___GTGGATTACAAAGCTGACGAGTGGCTGATGAAGAACATGGATCCCCTGAATGACAACATCGCCACACTGCTCCACCAGTCCTCTGACAAGTTTGTCTCGGAGCTGTGGAAGGATG___TGGACCGCATCATCGGCCTGGACCAGGTGGCCGGCATGTCGGAGACCGCACTGCCCGGGGCCTTCAAGACGCGGAAGGGCATGTTCCGCACTGTGGGGCAGCTTTACAAGGAGCAGCTGGCCAAGCTGATGGCTACGCTGAGGAACACGAACCCCAACTTTGTCCGCTGCATCATCCCCAACCACGAGAAGAAG___GCCGGCAAGCTGGACCCGCATCTCGTGCTGGACCAGCTGCGCTGCAACGGTGTTCTCGAGGGCATCCGTATCTGCCGCCAGGGCTTCCCCAACAGGGTGGTCTTCCAGGAGTTTCGGCAGAG___ATATGAGATCCTGACTCCAAACTCCATTCCCAAGGGTTTCATGGACGGGAAGCAGGCGTGCGTGCTCATG___ATAAAAGCCCTGGAGCTCGACAGCAATCTGTACCGCATTGGCCAGAGCAAAGTCTTCTTCCGTGCCGGTGTGCTGGCCCACCTGGAGGAGGAGCGAGACCTGAAGATCACCGACGTCATCATAGGGTTCCAGGCCTGCTGCAGGGGCTACCTGGCCAGGAA___AGCATTTGCCAAGCGGCAGCAGCAGCTTACCGCCATGAAGGTCCTCCAGCGGAACTGCGCTGCCTACCTGAAGCTGCGGAACTGGCAGTGGTGGCGGCTCTTCACCAAG___GTCAAGCCGCTGCTGCAGGTGAGCCGGCAGGAGGAGGAGATGATGGCCAAGGAGGAGGAGCTGGTGAAGGTCAGAGAGAAGCAGCTGGCTGCGGAGAACAGGCTCACGGAGATGGAGACGCTGCAGTCTCAG___CTCATGGCAGAGAAATTGCAGCTGCAGGAGCAGCTCCAGGCAGAAACCGAGCTGTGTGCCGAGGCTGAGGAGCTCCGGGCCCGCCTGACCGCCAAGAAGCAGGAATTAGAAGAGATCTGCCATGACCTAGAGGCCAGGGTGGAGGAGGAGGAGGAGCGCTGCCAGCACCTGCAGGCGGAGAAGAAGAAGATGCAGCAGAACATCCAG___GAGCTTGAGGAGCAGCTGGAGGAGGAGGAGAGCGCCCGGCAGAAGCTGCAGCTGGAGAAGGTGACCACCGAGGCGAAGCTGAAAAAGCTGGAGGAGGAGCAGATCATCCTGGAGGACCAGAACTGCAAGCTGGCCAAG___GAAAAGAAACTGCTGGAAGACAGAATAGCTGAGTTCACCACCAACCTCACAGAAGAGGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATCACTGACTTGGAAG___AGCGCCTCCGCAGGGAGGAGAAGCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGACCTCAGCGACCAGATCGCCGAGCTCCAGGCCCAGATCGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTGGCCAG___AGTGGAAGAGGAAGCTGCCCAGAAGAACATGGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGACCTGGAGTCTGAGCGTGCTTCCAGGAATAAAGCTGAGAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAGGACACGCTGGATTCCACAGCTGCCCAGCAGGAGCTCAG___GTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAGGCCAAGACCCACGAGGCCCAGATCCAGGAGATGAGGCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAGCGG___GTGAAAGCAAACCTCGAGAAGGCAAAGCAGACTCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCGGAGCACAAGCGCAAGAAAGTGGAGGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACAGAGCTGGCCGACAAGGTCACCAAGCTGCAG___GTGGAGCTGGACAACGTGACCGGGCTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTCACCAAGGACTTCTCCGCGCTGGAGTCCCAGCTGCAGGACACTCAG___GAGCTGCTGCAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAGGTGGAGGACGAGAAGAATTCCTTCCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATCGCCACCCTCCATGCCCAG___GTGGCCGACATGAAAAAGAAGATGGAGGACAGTGTGGGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGACCTGGAGGGCCTGAGCCAGCGGCACGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAGCAGGAGCTGGACGACCTGCTGGTGGACCTGGACCACCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAGCAGAAGAAGTTTGACCAG___CTCCTGGCGGAGGAGAAGACCATCTCTGCCAAGTATGCAGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGGGCCCTGGAGGAAGCCATGGAGCAGAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTTATGAGCTCCAAGGATGATGTGGGCAAGAGT___GTCCACGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACGCAGCTGGAAGAGCTGGAGGACGAGCTGCAGGCCACCGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTCGAGCGGGACCTGCAGGGCCGGGACGAGCAGAGCGAGGAGAAGAAGAAGCAGCTGGTCAGACAG___GTGCGGGAGATGGAGGCAGAGCTGGAGGACGAGAGGAAGCAGCGCTCGATGGCAGTGGCCGCCCGGAAGAAGCTGGAGATGGACCTGAAGGACCTGGAGGCGCACATCGACTCGGC)CAACAAGAACCGGGACGAAGCCATCAAACAGCTGCGGAAGCTGCAG___GCCCAGATGAAGGACTGCATGCGCGAGCTGGATGACACCCGCGCCTCTCGTGAGGAGATCCTGGCCCAGGCCAAAGAGAACGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATGATCCAGTTGCAGGAG|AAACCCCGAGACTCTTCAGTTGAAGTTCGTAGTGATTGGGAAGTGAAAGAGGAAATGGATTTTCCTCAGTTGATGAAGATGCGCTACTTGGAAGTATCAGAGCCACAGGACAT___TGAGTGTTGTGGGGCCCTAGAATACTACGACAAAGCCTTTGACCGCATCACCACGAGGAGTGAGAAGCCACTGCGG(AGCATCAAGCGCATCTTCCACACTGTCACCACCACAGACGACCCTGTCATCCGCAAG___CTGGCAAAAACTCAGGGGAATGTGTTTGCCACTGATGCCATCCTGGCCACGCTGATGAGCTGTACCCGCTCAGTGTATTCCTGGGATATTGTCGTCCAGAGAGTTGGGTCCAAACTCTTCTTTGACAAGAGAGACAACTCTGACTTTG___ACCTCCTGACAGTGAGTGAGACTGCCAATGAGCCCCCTCAAGATGAAGGTAATTCCTTCAATTCACCCCGCAACCTGGCCATGGAGGCAACCTACATCAACCACAATTTCTCCCAGCAGTGCTTGAGAATG___GGGAAGGAAAGATACAACTTCCCCAACCCAAACCCGTTTGTGGAGGACGACATGGATAAGAATGAAATCGCCTCTGTTGCGTACCG___TTACCGCAGGTGGAAGCTTGGAGATGATATTGACCTTATTGTCCGTTGTGAGCACGATGGCGTCATGACTGGAGCCAACGGGGAAGTGTCCTTCATCAACATCAAGACACTCAATGAGTGGGATTCCAGG___CACTGTAATGGCGTTGACTGGCGTCAGAAGCTGGACTCTCAGCGAGGGGCTGTCATTGCCACGGAGCTGAAGAACAACAGCTACAAGTTGGCCCGGTGGACCTGCTGTGCTTTGCTGGCTGGATCTGAGTACCTCAAGCTTGG___TTATGTGTCTCGGTACCACGTGAAAGACTCCTCACGCCACGTCATCCTAGGCACCCAGCAGTTCAAGCCTAATGAGTTTGCCAGCCAGATCAACCTGAGCGTGGAGAATGCCTGGGGCATTTTACGCTGCGTCATTGACATCTGCATGAAGCTGGAGGAGGGCAAATACCTCATCCTCAAGGACCCCAACAAGCAGGTCATCCGTGTCTACAGCCTCCCTGATGGCACCTTCAGCTCTGATGAAGATGAGGAGGAAGAGGAGGAGGAAGAAGAGGAAGAAGAAG___AGGAAGAAACTTAAACCAGTGATGTGGAGCTGGAGTTTGTCCTTCCACCGAGACTACGAGGGCCTTTGATGCTTAGTGGAATGTGTGTCTAACTTGCTCTCTGACATTTAGCAGATGAAATAAAATATATATCTGTTTAGTCTTTC)$ MAQQAADKYLYVDKNFINNPLAQADWAAKKLVWVPSDKSGFEPASLKEEVGEEAIVELVENGKKVKVNKDDIQKMNPPKFSKVEDMAELTCLNEASVLHNLKERYYSGLIYTYSGLFCVVINPYKNLPIYSEEIVEMYKGKKRHEMPPHIYAITDTAYRSMMQDREDQSILCTGESGAGKTENTKKVIQYLAYVASSHKSKKDQGELERQLLQANPILEAFGNAKTVKNDNSSRFGKFIRINFDVNGYIVGANIETYLLEKSRAIRQAKEERTFHIFYYLLSGAGEHLKTDLLLEPYNKYRFLSNGHVTIPGQQDKDMFQETMEAMRIMGIPEEEQMGLLRVISGVLQLGNIVFKKERNTDQASMPDNTAAQKVSHLLGINVTDFTRGILTPRIKVGRDYVQKAQTKEQADFAIEALAKATYERMFRWLVLRINKALDKTKRQGASFIGILDIAGFEIFDLNSFEQLCINYTNEKLQQLFNHTMFILEQEEYQREGIEWNFIDFGLDLQPCIDLIEKPAGPPGILALLDEECWFPKATDKSFVEKVMQEQGTHPKFQKPKQLKDKADFCIIHYAGKVDYKADEWLMKNMDPLNDNIATLLHQSSDKFVSELWKDVDRIIGLDQVAGMSETALPGAFKTRKGMFRTVGQLYKEQLAKLMATLRNTNPNFVRCIIPNHEKKAGKLDPHLVLDQLRCNGVLEGIRICRQGFPNRVVFQEFRQRYEILTPNSIPKGFMDGKQACVLMIKALELDSNLYRIGQSKVFFRAGVLAHLEEERDLKITDVIIGFQACCRGYLARKAFAKRQQQLTAMKVLQRNCAAYLKLRNWQWWRLFTKVKPLLQVSRQEEEMMAKEEELVKVREKQLAAENRLTEMETLQSQLMAEKLQLQEQLQAETELCAEAEELRARLTAKKQELEEICHDLEARVEEEEERCQHLQAEKKKMQQNIQELEEQLEEEESARQKLQLEKVTTEAKLKKLEEEQIILEDQNCKLAKEKKLLEDRIAEFTTNLTEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTDLSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQKNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEELEALKTELEDTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQEMRQKHSQAVEELAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQGKGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKLQVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLSTKLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVADMKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQQELDDLLVDLDHQRQSACNLEKKQKKFDQLLAEEKTISAKYAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDLMSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDELQATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELEDERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIKQLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQE|KPRDSSVEVRSDWEVKEEMDFPQLMKMRYLEVSEPQDIECCGALEYYDKAFDRITTRSEKPLRSIKRIFHTVTTTDDPVIRKLAKTQGNVFATDAILATLMSCTRSVYSWDIVVQRVGSKLFFDKRDNSDFDLLTVSETANEPPQDEGNSFNSPRNLAMEATYINHNFSQQCLRMGKERYNFPNPNPFVEDDMDKNEIASVAYRYRRWKLGDDIDLIVRCEHDGVMTGANGEVSFINIKTLNEWDSRHCNGVDWRQKLDSQRGAVIATELKNNSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVIRVYSLPDGTFSSDEDEEEEEEEEEEEEEEET* 01BR027 ENSG00000128595.17 ENSG00000176386.9 +/+ -/- chr7:128739432 chr9:113272520 5'UTR/splice-site 5'UTR translocation 0 5 0 96 234 medium . . . . . ENSG00000128595.17 ENSG00000176386.9 ENST00000535011.6 ENST00000374206.4 downstream downstream mismatches(1) ^(GATTGGTCGGGAGGCCGCCGGCGAGGCGGATGAGGGCGGGGTGCGGA)CCCGCTTCCGGTTGGGCGGTGCTTGCGCGCGTGAGCTGAGCCGGTGGGTGAGCGGCGGCCACGGCATCCTGTGCTGTGGGGGCTACGAGGAAAG|TGTTGACTTCAGTATGCTGAGACGGAAACCAACACGCCTAGAGCTAAAGCTTGATGACATTGAAGAGTTTGAGAACATTCGAAAGGACCTGGAG___ACCCGTAAGAAACAGAAGGAAGATGTGGAAGTTGTAGGAGGC(AGTGATGGAGAAGGAGCCATTGGGCTTAGCAGTGATCCCAAGAGCCGGGAACAAATGATCAATGATCGGATTGGTTATAAACCCCAACCCAAGCCCAATAATCGTTCATCTCAATTTGGAAGTCTTGAATTTTAGAGATGGATTATCTTGCATGCCAGAGCGCTGGAATGGAATAAAATGATGGCAGAAGTACAAACCAGATTTAGAGAATTGAGTGCTTGCAGTCAAGCAGAATGTACCTCCTGCAGAGACAAATCTTCTGCATGAGATTACTGATGCTTCACTTGCACTCTAAGCTGGAATCCAAACTCTGGTTTGTCTCTTGAAAATTTGACTCTATAAAACTGATCTGATTTTCTGTTTTTAAAAATAAATATATTTTTGGAAAAATGTGAGGCATCCTTAA)$ . 01BR027 ENSG00000128595.17 ENSG00000158467.16(3186),ENSG00000128578.10(1035) +/+ ./- chr7:128739432 chr7:129433397 5'UTR/splice-site intergenic inversion 5 0 0 96 27 medium . . . . . ENSG00000128595.17 . ENST00000249364.9 . downstream downstream . ^(GCTTGCGCGCGTGA)GCTGAGCCGGTGGGTGAGCGGCGGCCACGGCATCCTGTGCTGTGGGGGCTACGAGGAAAG|GGTGTTTTTACGAATCCAATGTTACTGATGAAGAAACCGG . 01BR027 ENSG00000173065.13 ENSG00000132589.16 -/- -/- chr17:28812209 chr17:28889026 5'UTR/splice-site CDS/splice-site duplication 4 1 0 11 67 medium . . |Flotillin(100%),SPFH_domain_/_Band_7_family(100%) . . ENSG00000173065.13 ENSG00000132589.16 ENST00000452648.7 ENST00000394908.9 upstream downstream . ^(AGCCGGCTGGGGGAGGGGGTGTCGGCGCACCGCGGAGTCCTGCGCTCCGTGAGCCTGGCACCCGGAGCAGCCGCCTCCCCCTCCCCCTGCCTAGAC)CGCTAGAAGCCCCCTCTCTTCCATCCTCCCGGGGCGGGGGTGAGCTGGGCTCAGCTGCCCAAGGCGGGCGGGGCGGAGCCAGGAGCCCCACGGAGCGCTGCGGAGCGAACCTCACCTTTCCAGGGCGCAAG|GGGGCTGTTGTGGTTCCGACTATAAACAGTACGTGTTTGGCGGCTGGGCCTGGGCCTGGTGGTGTATCTCCGACACTCAGAG___GATTTCCCTAGAGATTATGACGTTGCAGCCCCGCTGCGAGGACGTAGAGACGGCCGAGGGGGTAGCTTTAACTGTGACGGGTGTCGCCCAG___GTGAAGATCATG(ACGGAGAAGGAACTCCTGGCCGTGGCTTGTGAGCAGTTTCTGGGTAAGAATGTGCAGGACATCAAAAACGTCGTCCTGCAGACCCTGGAGGGACATCTGCGCTCCATCCTCG___GGACCCTGACAGTGGAGCAGATTTATCAGGACCGGGACCAGTTTGCCAAGCTGGTGCGGGAGGTGGCAGCCCCTGATGTTGGCCGCATGGGCATTGAGATCCTCAGCTTCACCATCAAG___GACGTGTATGACAAAGTGGACTATCTGAGCTCCCTGGGCAAGACGCAGACTGCCGTGGTGCAGAGAGATGCTGACATTGGCGTGGCCGAGGCTGAACGGGACGCAGGCATCCGG___GAAGCTGAGTGCAAGAAGGAGATGCTGGATGTGAAGTTCATGGCAGACACCAAGATTGCTGACTCTAAGCGAGCCTTCGAGCTGCAAAAGTCAGCCTTCAGTGAGGAGGTTAACATCAAG___ACAGCTGAGGCCCAGTTGGCCTATGAGCTGCAGGGGGCCCGTGAACAGCAGAAGATCCGGCAGGAAGAGATTGAGATTGAGGTTGTGCAGCGCAAGAAACAGATTGCCGTGGAGGCACAGGAGATCCTGCGTACGGACAAGGAGCTCATCGCTACAGTGCGCCGGCCTGCCGAGGCCGAGGCCCACCGCATCCAGCAGATTGCCGAGGGTGAAAA___GGTGAAGCAGGTCCTCTTGGCACAGGCAGAGGCTGAGAAGATCCGCAAAATCGGGGAGGCGGAAGCGGCAGTCATCGAGGCGATGGGCAAGGCAGAGGCTGAGCGGATGAAGCTCAAGGCAGAAGCCTACCAGAAATACGGGGATGCAGCCAAGATGGCCTTGGTGCTAGAGGCCCTGCCCCAG___ATTGCTGCCAAAATCGCTGCCCCACTTACCAAGGTCGATGAGATTGTGGTCCTCAGTGGAGACAACAGTAAGGTCACATCAGAAGTGAACCGACTGCTGGCCGAGCTGCCTGCCTCTGTGCATGCCCTCACAGGCGTGGACCTGTCTAAG___ATACCCCTGATCAAGAAGGCCACTGGTGTGCAGGTGTGAGGCTCCTGCAGGCCCACTCTCTTCAGCAGCCACCCGGCCCTCCCTCCAGCACCCGTTTTAATCCCACAGAACAACGGGAACGTTACTGACTCTGGTGCCTTATCTCGAAGGGACCAGAAGTGCTGCGTGTTCAGGCCATCTCTGGCTGTCTTCCTGTCTCTCCTGTCTGTCCACCTCCTCCTCTTCCTCTCCTTTACCCCACTTTCACTGCCACTTTCATCAGGTTTGTGTCTCATCTCCCTGCGTGTCTTTTCCTTTGTCTGTCTTTTTCTTTCCCCCATGCACATCATGTAGATTAAGCTGAAGATGTTTATTACAATCACTCTCTGTGGGGGGTGGCCCTGCTGCTCCTCAGAATCCTGGTGCCTTGAAGTTCTCTGTGCATCTGTCCATCCTCCCTATGGCCCTGGCCAGAGCTCAGCATGGGCAGGGGTTCTGGGTAGGACGGTCACTGTCCTCTCTCCTGGACTGGTCTTCCCAGCCCTAAACCCTGCCCCAGGAAGCCCACAGCCTCACCTGCTGCTGCCCCTCTAGGTCTGGGCAGCCATGACCTGCAGGGCCCAGAGACACTGTCCTTCCCCTCATCCACCCAAGGCCCCAGCCAGCGCTCATACCCTGTCCTTTCTCCCTGACCCCAAGGGCACAGAGGCAAGGCCTCCTGTCTACAGCAGCTTCCTCAGTTTCCTACTGCCTTAGGAGGCCCCTGCTTGTGCTCAGGGAAGGCCTCTTCATGGGCATGTTCCTGCTGGGGCGGTGCGGTTTGGTCCCAACTCTGCTAAGTTTTCTGAGATGAGGGTCTAGCCCTGTTGGGGACAGAAAAGTGTGTAGACCTTCTTCCTGCTAGGGCTGCACTGTCCTGGGTGTTGGGCCCTTCTGGTGGACAAGGCTGTGCCAACCCTGTACAGAATCGAGTGCTGTAGCCTGGCCAGACCCCAGAGCCCTTGTGCCATCTTTCTTCCTGGCCAGAGTGATGGGGTTCCAGCCATGGGGAAGCAACCCAATCCTCTGTCTCCTTGCTCCAATGGAGGCAGAAGAGCCCAGGACCCAAGCGTCTTGGCAGGGGTGCTGTGAATGTCCAGTGGTCCCAGCTCCCCACCCTGGCCCTGCCCCAGCCTGTGTAGCTCTTCCTGCATGTGGATGCTGCATGTCTGGTCTGGGGCTTGGATGTTGCACTGCCCCACTGCCTGTCCCTTCTGGTAAAATAAAGAACTCTTAATGCCCA)$ . 01BR027 ENSG00000173065.13 ENSG00000132589.16 -/- -/- chr17:28834293 chr17:28889026 5'UTR/splice-site CDS/splice-site duplication 1 2 0 2 67 medium . . |Flotillin(100%),SPFH_domain_/_Band_7_family(100%) . . ENSG00000173065.13 ENSG00000132589.16 ENST00000577682.5 ENST00000394908.9 upstream downstream . ^(AGTCCCCACAGCTGCGCCGGTGACTGAGGGGCCGGGCAGTGGAGAAGTGGTGGCGGCGGGCGGCGGGCGGCAAAGGAG)CAGCCATGAGGGCCGGGCCCAGTCACCGACC___GTGCTGAGGAGTCATGGAAGAGTTTTTAAACCAG|GGGGCTGTTGTGGTTCCGACTATAAACAGTACGTGTTTGGCGGCTGGGCCTGGGCCTGGTGGTGTATCTCCGAC(ACTCAGAG___GATTTCCCTAGAGATTATGACGTTGCAGCCCCGCTGCGAGGACGTAGAGACGGCCGAGGGGGTAGCTTTAACTGTGACGGGTGTCGCCCAG___GTGAAGATCATGACGGAGAAGGAACTCCTGGCCGTGGCTTGTGAGCAGTTTCTGGGTAAGAATGTGCAGGACATCAAAAACGTCGTCCTGCAGACCCTGGAGGGACATCTGCGCTCCATCCTCG___GGACCCTGACAGTGGAGCAGATTTATCAGGACCGGGACCAGTTTGCCAAGCTGGTGCGGGAGGTGGCAGCCCCTGATGTTGGCCGCATGGGCATTGAGATCCTCAGCTTCACCATCAAG___GACGTGTATGACAAAGTGGACTATCTGAGCTCCCTGGGCAAGACGCAGACTGCCGTGGTGCAGAGAGATGCTGACATTGGCGTGGCCGAGGCTGAACGGGACGCAGGCATCCGG___GAAGCTGAGTGCAAGAAGGAGATGCTGGATGTGAAGTTCATGGCAGACACCAAGATTGCTGACTCTAAGCGAGCCTTCGAGCTGCAAAAGTCAGCCTTCAGTGAGGAGGTTAACATCAAG___ACAGCTGAGGCCCAGTTGGCCTATGAGCTGCAGGGGGCCCGTGAACAGCAGAAGATCCGGCAGGAAGAGATTGAGATTGAGGTTGTGCAGCGCAAGAAACAGATTGCCGTGGAGGCACAGGAGATCCTGCGTACGGACAAGGAGCTCATCGCTACAGTGCGCCGGCCTGCCGAGGCCGAGGCCCACCGCATCCAGCAGATTGCCGAGGGTGAAAA___GGTGAAGCAGGTCCTCTTGGCACAGGCAGAGGCTGAGAAGATCCGCAAAATCGGGGAGGCGGAAGCGGCAGTCATCGAGGCGATGGGCAAGGCAGAGGCTGAGCGGATGAAGCTCAAGGCAGAAGCCTACCAGAAATACGGGGATGCAGCCAAGATGGCCTTGGTGCTAGAGGCCCTGCCCCAG___ATTGCTGCCAAAATCGCTGCCCCACTTACCAAGGTCGATGAGATTGTGGTCCTCAGTGGAGACAACAGTAAGGTCACATCAGAAGTGAACCGACTGCTGGCCGAGCTGCCTGCCTCTGTGCATGCCCTCACAGGCGTGGACCTGTCTAAG___ATACCCCTGATCAAGAAGGCCACTGGTGTGCAGGTGTGAGGCTCCTGCAGGCCCACTCTCTTCAGCAGCCACCCGGCCCTCCCTCCAGCACCCGTTTTAATCCCACAGAACAACGGGAACGTTACTGACTCTGGTGCCTTATCTCGAAGGGACCAGAAGTGCTGCGTGTTCAGGCCATCTCTGGCTGTCTTCCTGTCTCTCCTGTCTGTCCACCTCCTCCTCTTCCTCTCCTTTACCCCACTTTCACTGCCACTTTCATCAGGTTTGTGTCTCATCTCCCTGCGTGTCTTTTCCTTTGTCTGTCTTTTTCTTTCCCCCATGCACATCATGTAGATTAAGCTGAAGATGTTTATTACAATCACTCTCTGTGGGGGGTGGCCCTGCTGCTCCTCAGAATCCTGGTGCCTTGAAGTTCTCTGTGCATCTGTCCATCCTCCCTATGGCCCTGGCCAGAGCTCAGCATGGGCAGGGGTTCTGGGTAGGACGGTCACTGTCCTCTCTCCTGGACTGGTCTTCCCAGCCCTAAACCCTGCCCCAGGAAGCCCACAGCCTCACCTGCTGCTGCCCCTCTAGGTCTGGGCAGCCATGACCTGCAGGGCCCAGAGACACTGTCCTTCCCCTCATCCACCCAAGGCCCCAGCCAGCGCTCATACCCTGTCCTTTCTCCCTGACCCCAAGGGCACAGAGGCAAGGCCTCCTGTCTACAGCAGCTTCCTCAGTTTCCTACTGCCTTAGGAGGCCCCTGCTTGTGCTCAGGGAAGGCCTCTTCATGGGCATGTTCCTGCTGGGGCGGTGCGGTTTGGTCCCAACTCTGCTAAGTTTTCTGAGATGAGGGTCTAGCCCTGTTGGGGACAGAAAAGTGTGTAGACCTTCTTCCTGCTAGGGCTGCACTGTCCTGGGTGTTGGGCCCTTCTGGTGGACAAGGCTGTGCCAACCCTGTACAGAATCGAGTGCTGTAGCCTGGCCAGACCCCAGAGCCCTTGTGCCATCTTTCTTCCTGGCCAGAGTGATGGGGTTCCAGCCATGGGGAAGCAACCCAATCCTCTGTCTCCTTGCTCCAATGGAGGCAGAAGAGCCCAGGACCCAAGCGTCTTGGCAGGGGTGCTGTGAATGTCCAGTGGTCCCAGCTCCCCACCCTGGCCCTGCCCCAGCCTGTGTAGCTCTTCCTGCATGTGGATGCTGCATGTCTGGTCTGGGGCTTGGATGTTGCACTGCCCCACTGCCTGTCCCTTCTGGTAAAATAAAGAACTCTTAATGCCCA)$ . 01BR027 ENSG00000119725.20 ENSG00000119661.15 +/+ +/+ chr14:73922206 chr14:73695902 CDS/splice-site CDS/splice-site duplication 4 0 0 97 33 medium in-frame . C2H2-type_zinc_finger(100%),Zinc_finger__C2H2_type(100%)| . . ENSG00000119725.20 ENSG00000119661.15 ENST00000555044.6 ENST00000553645.7 downstream upstream . ^(GTGTGTGGACGGAATTCGGGACCGACTGACGGCCGGCCGGCTTCCCGGAACTGGAAG___GTTACATTGATTACCCACCTAGTACAACATCTTACGGGAAGAGCATAGTATTTCCTAGAGGAATATGAACATAACAGGAAGGTATCATTGGCTCTGAATTAAATTTGAACTTGTCCCCTGAATAGCTACAGGTTTTGGAAGCTGAATCAATGTTATCAGATGAGTTAGAATCCAAACCAGAG___CTCCTGGTACAGTTTGTTCAGAATACGTCCATCCCATTGGGACAGGGGCTTGTAGAATCAGAAGCTAAAGATATTACTTGCTTGTCCCTCCTTCCCGTGACTGAAGCCTCAGAATGCAGTCGGCTAATGTTACCAG___ATGATACTACAAATCATTCTAACTCCTCCAAGGAGGTCCCTTCCTCAGCTGTTTTGAGAAGCCTTCGGGTGAATGTGGGTCCAGACGGAGAGGAGACGAGAGCTCAGACTGTACAGAAATCCCCGGAGTTTTTGTCCACTTCAGAGTCTTCTAGCTTGTTGCAAGATCTACAGCCAAGTGATAGCACTTCTTTTATTCTTCTTAACCTAACAAGAGCAG___GTCTGGGCTCTTCAGCTGAGCACTTAGTGTTTGTACAGGATGAGGCAGAAGATTCAGGGAATGATTTCCTCTCCAGTGAGAGCACAGACAGTAGCATTCCATGGTTCCTCCGGGTTCAGGAGTTGGCCCATGACAGTTTGATTGCTGCTACTCGTGCACAACTGGCAAAGAATGCAAAAACCAGCAGCAATG___GAGAAAATGTCCACCTTGGTTCTGGTGATGGGCAGTCAAAAGATTCTGGGCCCCTTCCTCAAGTGGAAAAGAAGCTCAAGTGTACAGTTGAAGGTTGTGACCGGACATTTGTATGGCCAGCTCACTTTAAATACCACCTCAAGACTCATCG___AAATGACCGCTCCTTCATCTGTCCTGCAGAAGGTTGTGGGAAAAGCTTCTATGTGCTGCAGAGGCTGAAGGTGCACATGAGGACCCACAATGGAGAGAAGCCCTTTATGTGCCATGAGTCTGGCTGTGGTAAGCAGTTTACTACAGCTGGAAACCTGAAGAACCACCGGCGCATCCACACAG___GAGAGAAACCTTTCCTTTGTGAAGCCCAAGGATGTGGCCGTTCCTTTGCTGAGTATTCTAGCCTCCGAAAACATCTGGTGGTTCACTCAG___GAGAGAAGCCTCATCAGTGCCAAGTCTGTGGGAAGACCTTCTCTCAGAGTGGA)AGCAGGAATGTGCATATGAGAAAGCATCACCTGCAGCTGGGAGCAGCTGGGAGTCAAGAGCAGGAGCAAACTG___CTGAGCCACTAATGGGCAGTAGTTTGCTTGAAGAGGCTTCAGTACCCAGTAAAAACCTGGTGTCTATGAATTCCCAGCCCAGCCTTGGTGGAGAGTCCTTGAACCTACCAAATACCAATTCTATCCTGGGAGTTGATGAcG|GTACTCCAGTAATTAAAGGGGATGAGGAAGAAGACAACTAAT(GCCACGCTTTCCACTGTGTGTTAACTTATTTAAATGTCATAAGAACAATAGATAAATTTTATATAATTGTCTATTTTAAAGATTCTGTATGGGACAAAAGTTTCTTAAGATAAAACAGATCACTCATTCTCATCTTTTTTTTTCCTTTAACTTATTCAGTGTTTCTCCCCAAAACTGGTAATGCCAACCTTATATATCCTATTTCTCTTTTTAGAAACCACAAATTTTCGATTTTTGTCTTCAGTCTCAGTTACGTACTGTGTAGCCCCATCTACTAAAACAAAACCTTTGTAGACCAGTCATTTTTAATAACAAAGGAACAAATGTTTTTTTCAGTTTGTTCATTTTTTTTAGGTTAGACATTTTAAAAGATGTACATTTGAAAATTCAGAACATTTTTCCTGAAGGTCTGTCTCTGTACAATTCAGAAGCACATGCCTTTAGCTCAGAAGGCAGCATGGTGATGGGAAGAGTTCCTCTTAGAAATACAGCAGGTCCGGAACCAAGACTCCAAAGTTCCATTGGAAAAGATATGGTGAAAAAAGGAAAAAGTAGTATCTCAGAGACCTTCTAGTCTATATTATACTTATTTGTTTTTCCAAAAATGTGCACATTGTCAACTGGAATTTAGGTTGTTTTTATATGCATGGCCACTTGAGTCATTGTGTACAGTCATTCTGTGATCTCAGTTAGTGGTTAAAATGACTGTCATGATCATTTCTTTGACTGATAATGTGGCAATGTTACTCATGTGGACCTCGCCTTAAGCACACATTTTGGTTTTATAGTTCCTTATGTGTTTAAAGCATTAGTTATATTTGAATTCCTAGACTAAATGCTGGCCATTGATGTATGTCAAAATTTACCCTAATTATTTGGTCTGGTGACCCTCATTGTTGGGAAAAGTGACTACCATGGTTATAAGTAAGGGTATAATGAAACTTAGTATTTCAAAATATATTTTTTGAGAAGTTCTAAGTTAAACAGCTCTTAAAATGTATTATGTACGTGGTTGTGGAGGGAAGGGAGATGTTTCATTATGAGATCCCAGGCAAATGGCAATATGTTTGAGGATTGTCTCCTACATAAAGCAGTGTAGGTGATTTAACCTCAAAATTGCAAAGCAATAGTTAGATGCAGAGGTTAGAATTTATCATGTAAACAAAAAATCCTTCAGGAAAATGTAAGACATTGTAGTCAGTAAGCAGATGAGGTCATAGGAGGCCATGGCTGGATCACTATTAGATTGCAGAAAAGAAGTCAGGGGCCCTCTGCCAAATTGTGCCTAAAGTCCCTCAGAGACTGTTGATTCTGGTTTCCCCATCTACTTGTGTGATTTTACTTGCATAAAATCACAGTGAAAGAGGGAAGAATCATCTTTAAAAAGTGATTGCATAAGTAGTCCTGGGTTTCAGAAGATTTCAGCTATCATTTACATAGGAATTACTTGATTTTTCTAAGTTACTCTGATCAAAAGGGACCACTGCTTTGACAATCAACTCTAAATACAAACAAGAGGCCAGGCGTGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGTCCTGGTGGTGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCATTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAATAGAGCGAGACTCCATATTTAAAAAAAAAAAAAAAAAAAAAAGAGGAAAACTTGGTCTAACACCCTTTTAGTTTTCTTTTCTCTCTTCTTTTCAATCTGATAGGAAGAAACCTTATTCTACTCTAGCTGGTTTATGCATTCAAAGCCTTTGGACATTTCTTTTATGAACCATAGGCAATGAGCCTTCATTCTCCTTGGTGATGTTTTAAGTTCCATAAACTGAGAGGGAAGATGATCTTCTTAAAGTTTGCACTTCCTTCAGTAGGCAAGCTTGAAGCCATGTTGATATGGATATGTTTTCTAAAAGTAACCCTGGAAGTGAATATAATAGGAAGTAAGTGATTTCATATTGAATTTATTTGTAAAATGGCTTAGAGTTTTGGTGTTTGTTTTTTCTGAATTCTGTAATATAGAAACTGGTTCTCTTTCTCCTTGTTTCTCAATGACTTTTAATTACAGGTAGTTCTCAGACAAATGTAAGATACTTTTCTCTGTCCATTTCATGCAAAATTCATATTCAGTATCATTCAACAAATCTTTGAATGACTTCTATGCATCCCTGTTCATGGAACCCATGCCATTAGAAAATGGCAGTTGGGATGTATGAAGAAATGTAGGATATTCTCTCAAATCATTCCCTAAATTATCCTTTACTGCTGCAAATTTAGCTGATAAAACTGCCTTTGGTTTATGCCTCTTGGATCAGATATTTGACCTATGTGGAATAGATTATCTCTGTGCTTCCGGTTTAAGACATTACGCCATTTTAGTGGATCATTTAAATTTTTTCTATTCTGTTTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAACAGAGTCTCACTCCCGAGTAGCTGGGACCACAGGCACGTGCCATCATGCCTGGCCTATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTTGTCTTGAACTCCTAACTTCAGATGACCTGCCCACATCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCAAATTTCTTCTATTCTTGTAAGTGATGGTAAAACTCTGGAATCAGTCCAGTATTTTAGTTTTTCACAGCAAATTTGATTTTAGTCTACCAAGGAGTTTAACTTTTCTATGTTCCCTAACTCTAAGATTAGGGCTGTATTACCTAGACAGGCCTTAAAAGGTTTTTGTGTTGTTCTCTGTTAATAAGAATTTGTTCCTTTAAACCAGAGGATCAACCTTGGAACTATTAACATTTTGGGATTGATAATTCATTGTTGTTGGGGGCTGTCCTGTGTGCTTAGGATGTTCAGCTGCAGCCCTGGCCTCTACCCACTAGATTCCAGTAGACCCCCTCCTCAGCCATGACAACAAAGATATCTCCAGACATTGCCATCTGTCCCTTGGGTAGGAGGGTGGGAACAAATTCTCCCTTAGTTGTACTTTTTATACCAACATCACTTGTGTCCAGGGTCCATTTATTTTCAGTCTGTAGCCATGTGCCACTTGAATTGTTATATGAGAGAAGGTGATGTATTCAGTAATCATGGATGGAAAGAAATGGTCACTGGTATTTTTTGTAATGCTCATTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTACCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCAATTCTTCTGCCTCCGCCTCCCAAGTAGCTGGGACTACAGGCACGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGCGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGACTGGCTTAATGCTCATTTTCATAATTTTCATGTAATATTAGAAACTCAGGGCTGGAAGGTTCAACTTCTCTTTTTTGAAGCAGGGTCTCAACTTTTATTTCTAAGCATTCTTGCTTATCTTAGGACAGTGATTATTAACCTACCTCTCTGTTTCTATCAACAGAAGCCAACTTTATGATAGATTTTGCTTTGTCTCTAAAGTTTAATATTTTGAGTGTACTTTAGAAAATAGGTCATCATTCTTTAAGCGTCATTCATTGTCTAATCACATAATTTTGCAGACCATGGCAGTCATTAAATACAGAAAAATACTGTGTAAAATTTGATAATCTTGTAGGAAAGTTAGCTGATGTAGACATCAATTTTGGATGTGATCAGAAGAATGTCTGCTTAAGATAACTGGTCAATAACTTGGTATGGCTACTGGATTCATTCCACATATGGTAGTATAAGGCACTTAAATGTGTTTCCTGATTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACGTGGTGAAACCCCATGTCTACCAAAAATATAAAAAGATAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGCTTCAGTGAGCCGAAATAGTGTGACTGTACTCCAGCCTGGGTGACAGAGTAAGTCTCCGTCTCAAAAAGAAAAAAAAAAATGTGGTTCTTTTGTGGAAAGAGGAATTTGAACTTGAATAAACACTTCTTTTGACACCTTTTACCAGTGGTCTGAAGCAGAATAAGGAAGAATAAGAAATGAATCTTGACTGTTGACTTATTCTGAGAATTGGTGATGTGTAAAGAGAGTTGGAATCTTCTACCTGGGTTTTTCTCAGGGCTAAATGGAAAAGCACAGGGCCCAGAAAGGTTGGAGTTAATCATTCACTTAAAAGCATTAGGAGGAAGTGTCAAAGCATCAGTCATGAATAGATTATGTCTCTCTGACTACAGTCAGACCATCAATTCACTAAGACCTTATACTCTGTAAGTGTTGGTAAAGGAAGAAAACTGCTAAATTGCATGTTACCCTTTACTAGAAATTCATTCCTTTGGCACAGATTTTATTTATTTGGGGCTGTTTAATGTGTCTGTAAATCATGAAATATAAAAGCAAGATTCAGTGTAGCAGAGTTGGTGCTTCTTCTGACAAGCTAACTTGACCATATTTCTTTATCTGTGCTCTAACATGTGTCATATTGTTTTCTTTTTGTAAACCATAAAATGGGTGAACTTCCAAAAATCAAGGGTCATGTTTTAAAATCATGGAACTTTTAGAAATACCATATCTGTATCTCTATTCCTGCATTTTATAAATCTGTAAAGGAAGAAAACTGAAAGGAAGAACTAGACTGAGTCTTACCTTTCTCTGACCTAAGATAAACTGATAAAACTTTTTACTTGATATTTGGAGAAGTCATTAACTGGATTCTAGTTAATTTCCCATATTGGGCAGTTTAGAGGAGACCCAGCCAACCAAATTATGATCTAGCAAATTTAACATAGGGGAAGAGGGATAGTAAACTATTTTTCAGTAGATTTGCACTTTAAACTTAGGAACTGGATGTTGGTGGAAAGGACTTCCATAGGGCAGATGGGTAAATATCTAGCCTGCACTTGGATGTTAGAGAATCAAACCTCACCCTTGCTCGTTCTAAACCCACATGAGTAGTTAACTGTCTTTTGACATAATCAGAGTCAGGATTTCCCTTTTTCCCTACTTGAGTCGTCTTCCATGTCTGTTACATCCAAGATCATCCCTCTGGGGGATGTGTCAAGTAGTTCTCCTACTCAGAATAGAAGCTTTGCGAATTATCATTCCCACCTCTAGATTTTAAATGAATGTAGAGTTGTCTAACATTATATGGGTGGGAGGCTCTTTGCCTCTGTGATCAGTAGGGTACCTGCCTCTGAGGTGCTACTGCCTGGAGGGATCACTCCCATCAAAAGACTGGTGAGTTGGAAGCTAAGAGCACATGCGCATAGCCAGCTCCTCTCCCAGGCTGGCAGTCATGATTACGAGCATCATTCCAGAATCTTTGGCTTCTAGAACCAACTCCATTCTGAAGAACATTTTAACATCTATGAATACCTTGGTAATAATCTTTTATACACAGGAGTTTTGTAGCATGACTTTATGACTAAACTTATTGTGAATTAAGTTATTTAGAAATGTTGAGTTTCTGAATGTTATTTTGTGATTTGTTTCAAAATGGTAATAAATTGTGTTATTTTGTAAAAAAAAAAAAAAGTATATTTTTGGTACATGATTATTAGTTTTAGCTAATATAGAGCAATTATATAAACTTCTAGTGATATTCAGTCCAAAGAAATTCAGCCTTTGGATAACATGTACCATGCAGTTTGTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGCACGTGCATGAGAGAGAGTGAAAGAGAGAGGTGTTTTTTGTTTTGTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCACTGGCACAATCTCGGCTTACTGCAACCTCCACCTCCCGTGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGAGTACTGGGACTACAGGCGCACACCACCATGCTTGGCTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCATGCTGGCCAGGTTGGTCTCGAACTCTTGACCTCGTGATCTGCCCGCCACAGCCTCCCAAAGAGCTAGGATTACAGGCACGAGCCACCGCGCACGGCCAGAGGCATTCATTTCTTTAGCTAAGTTTTTTTTTCTTAGTAGGTTTTTTTCTCCCAGGCTTGTAACTCTTCCCCAGTTCTTTGGGCACTATTTCAAATTATTAGGCTTCTGGAAAGAGTGCTTCCAGGGACAGCAAGTTACTACTGCACTTGACCATTCCTAGTCCTCACCTGATTACCAGAAGGTACGCAAGGTAAAAGTTAGCTGATAGGCCCTGAATTGAGAAAAAGGAATCACCAAGCAATATCCGTAACATTACACATTTTGCCAGCACATTTTCTATGCTATCAGCTAAAACGTAATTTTGGTCACAAAATAGGGCTGTAGTGTAGTTTCTACTTCTTATTCCAGTTGTTTGATTATGAGGATACATTTCTTGCTGCTGTCCTCCACTAAACAGCAGACAAATTGCCAGGTGTGCTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAAGGCAGGAGTTTGAGACCAGCCTAGGCAACATCGTGAGACCCCATCTCTACAAAAAAAAAAAAAGAAAAAAAAAATTAGTTGGGCATGGCAATGCCGCCTGTGGTCCTAGCTACTGGGGAGGCTGAGGCAGGATTGCTTGAACCCAGAAGTTTGAGGTTACAGTGAGCTATGATCATGTCACTGCAAGACCCTGTCCCTAAAAAAAGGAAAAACAAATAGAAGACAAATTTCAATTTCTGAGTTTATACAAAGAAAGCCTTAATTCAGATCATAAATATCCCATTGTTATTTTTAGTTCATTGTTTCCTAGAACAAAGGATGGACATTTAGGATCCTCACATTGATTTATGTCATATATATGTATTGCATTGAATATATATATACGCATGTAGATACATACAATTGTTATATATAATTAAAAGTCAGAATCTTAGGTGATAACTGTCAGACCTCTGAGCCCAAGCTAAGCCATCGCATCCCCTGTGACTTGCACGTATACATCCAGATGGCCTGAAGTAACTGAAGATCCACAAAAGAAGTAAAAATAGCCTTAACTGATGACATTCCACCATTGTGATTTGTTCCTGCCCCACCCTAACTGATCAATGTACTTTGTAATCTCCCCCACCCTTAAGAAGGTTCTTTTTAATTCTCCCCACCCTTGAGAATGTACTTTGTGAGCTCCACCCACTGTCTGCAAAACATTGCTCTTAACTTCAGCGCCTATCCCAAAACCTATAAGAACTGATGATAATCCACCACCCTTTGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCATGTTACTCACACAAA)$ MLSDELESKPELLVQFVQNTSIPLGQGLVESEAKDITCLSLLPVTEASECSRLMLPDDTTNHSNSSKEVPSSAVLRSLRVNVGPDGEETRAQTVQKSPEFLSTSESSSLLQDLQPSDSTSFILLNLTRAGLGSSAEHLVFVQDEAEDSGNDFLSSESTDSSIPWFLRVQELAHDSLIAATRAQLAKNAKTSSNGENVHLGSGDGQSKDSGPLPQVEKKLKCTVEGCDRTFVWPAHFKYHLKTHRNDRSFICPAEGCGKSFYVLQRLKVHMRTHNGEKPFMCHESGCGKQFTTAGNLKNHRRIHTGEKPFLCEAQGCGRSFAEYSSLRKHLVVHSGEKPHQCQVCGKTFSQSGSRNVHMRKHHLQLGAAGSQEQEQTAEPLMGSSLLEEASVPSKNLVSMNSQPSLGGESLNLPNTNSILGVDD|gTPVIKGDEEEDN* 01BR027 ENSG00000270181.3 ENSG00000134900.12 +/+ +/+ chr13:102855323 chr13:102674320 intron CDS duplication 3 1 0 7 155 medium in-frame . XPG_N-terminal_domain(100%)| . . ENSG00000270181.3 ENSG00000134900.12 ENST00000639435.1 ENST00000376052.5 downstream upstream mismappers(3) ^(GGGATATGTAGTTCGCGACAGGACGAGCGGAAATACTGCCAGGATTTTACCACCTCTCGCCCATTTATTTACTTCTCGGTCACCGCTTTCGGGGGACAGATAAACACCACAGATGCCCATCAAAGGGGCGCACGGGTCTGGAGGCGCAGCTCAGGTTTTTGCGTTGGTCACCCTGCCCTCCGCACGTGGAGAGGGCAGGCATAAAGCACCTTGAAAGGAAGGTGCTGTCAATGCTATCCGACGACCTGTCGCCGGGCACCGCAGCATCCTCGCTCGCTCCGATGGGACGAGGGACGCCGGCCCCAGGGTAACAGGAGGCGCCTCGCCGGCCGCGCGCTGGATGCTGTGATCCAGGTCCGGAGCCGGGTTCCGCCGCGGCCGCAGCGACCCGACCCCACCCGACAGGCCAGAG___GAATCAGTTTAGACTTGAAATTCAGTTTTTCCTGAAACTGATCAGAAGTTAGTGACACCTTGATTGGATCCGTTTTTCTGTCAG___GAGCTCATTTTGCAGCTCTCAAGCTTTTATAGCATGCTGTAAACAATTGTCAAAGTTGTTTATCAAGAAACAGATAGAGTTGCAACTTGTTTCTAGTAATAGAAACTTTTACACTGCATTCAATGCCTAACGTTGCAGAAACAGAAAGGTCAAATGATTCTGGAAATGGTGAGCACAAATCTGAGAGAAAGTCACCTGAAGAGAATCTACAAGGTGCTGTAAAATCTTTCTGCACAAGTGCCTCAGGAGCACCCTTGGGTCCCAAAGGAGATGGTCATTATCCATGGAGTTGTCCAGTGACTCATACACGGGAAAAAATTTATGCCATCTGTTCGGACTATGCCTTTCTCAACCAGGCGACCTCAATCTATAAAACTCCAAATCCATCCCGCTCTCCTTGCCTCCCTGATAGTACCTCTTTATCTGCTGGAAATAATTCATCAAGATACATTGGTATCCCGACTAGTACATCGGAAATTATCTACAATGAAGAAAATAGCTTGGAAAACTTATCCAACAGCCTGGGCAAGCTACCTCTCGCATGGGAAATTGATAAATCTGAATTTGATGGGGTGACCACAAATTCGAAACACAAATCAG___GCAATGCAAAGAAACAAGTTTCCAAGAGAAAAACTTCAGATAAAAAGGGAAGATATCAGAAGGAATGTCCTCAGCATTCTCCTCTTGAAGATATTAAACAGCGGAAAGTATTAGACCTCAGACGATG___GTACTGCATAAGCCGACCACAGTATAAGACTTCTTGTGGCATCTCTTCATTAATTTCTTGTTGGAATTTCTTATACAGCACAATGGGAGCTGGAAA___CCTTCCACCTATTACCCAAGAAGAAGCTTTACATATTCTGGGCTTTCAACCTCCATTTGAAGATATTAGGTTTGGTCCTTTCACGGGGAATACAACACTTATGAG___GTGGTTTAGACAAATTAATGACCACTTCCATGTAAAAGGATGCTCTTATGTTCTATATAAGCCTCATGGGAAGAATAAAACAGCAGGAGAAACTG___CTTCAGGGGCCCTGTCAAAGTTAACCCGTGGATTGAAAGATGAATCGCTGGCTTATATCTATCATTGCCAAAATCATTATTTTTGTCCAATTGGCTTCGAAGCAACCCCTGTTAAAGCTAATAAAGCATTCAG___CAGGGGACCTCTCTCACCACAGGAAGTTGAATATTGGATCTTAATTGGAGAATCAAGTAGAAAACATCCTGCCATTCACTGTAAAAA___ATGGGCAGATATTGTTACTGATCTAAACACTCAAAATCCAGAATACCTGGATATCCGGCACTTAGAGAGGGGACTGCAGTATAGAAAAACAAAGAAG___GTTGGGGGAAATTTGCATTGCATCATAGCATTCCAGAGACTTAACTGGCAAAGATTTGGCCTTTGGAACTTTCCATTTGGAACCATTAGACAAGAATCACAACCTCCAACACATGCCCAGGGAATTGCCAAATCTGAGAGTGAAGACAATATTTCCAAGAAGCAGCATGGGCGTCTGGGCCGGTCTTTCAGTGCTAGTTTCCATCAGGACTCGGCATGGAAAAAGATGTCTA___ATATTAGCATTTGGTTAAACCAAGCACTTAAAGGAGTCCGGGATCGCCATGGGAACTCAATAGAAAATCCTCATCTTCTCACTTTGTTTCATCGGCTCTGCAAACTCTTATTTTTTCGAATTCGTCCTATTTTTGTGTTTGATGGGGATGCTCCACTATTGAAGAAACAGACTTTG___GTGAAGAGAAGGCAGAGAAAGGACTTAGCGTCCAGTGACTCCAGGAAAACGACAGAGAAGCTTCTGAAAACATTTTTGAAAAGACAAGCCATCAAAACT)GCCTTCAGAAGCAAAAG___AGATGAAGCACTACCCAGTCTTACCCAAGTTCGAAGAGAAAACGACCTCTATGTTTTGCCTCCTTTACAAGAGGAAGAAAAACACAG___ATGGAGTCTCTGTTGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTC|CTTTGTAGGAAAGGTTGTGCCCTGGCAGACCATCTTCTTCACACCCAGGCTCAAGACGGAGCCATTTCCACTGATGCAGAAGGAAAGGAG(GAGGAAGGAGAAAGTCCTTTGGATTCTCTGGCAGAAACATTTTGGGAAACTACTAAATGGACTGATCTCTTTGACAATAAG___GTTTTGACATTTGCATATAAACATGCATTAGTAAATAAAATGTATGGGAGAGGCCTTAAATTTGCAACTAAACTTGTGGAAGAAAAACCAACAAAAGAAAACTGGAAAAATTGTATTCAA___CTGATGAAGTTACTTGGATGGACCCATTGTGCATCTTTTACTGAAAACTGGCTCCCCATCATGTATCCTCCCGATTATTGCGTATTCTAAAATAGGAAACAAGACTTTAAATTTTAAAAAAGGAAGTTTTATAGTGAATGGGTATAAAAACAAATTTGTGGCATTTTTAGTCTAATGCATGTTTTCATCCACTATCCAGTACTGATTATTAAAATGACATGTATTTATCAGAGAATTCACTGACGTGTGGCTTAATACATGTAAATCTAGACCTCTGACATCATGGTGTTTTCTTAATGCCTCACATTGCTGGCACGGGGATGTGCCCTGCCTGCCAGCACCTAGGACTTCGAGTTGGGTTGCAGCTTATGACATGCATGATAGGTTTTGGAAGGTAACTTTTAACTGCAAACCTATAAAGTACTATTTTTTATTTTATAAATGAACAGGGTTTTAACGTGCTCAACTTTAATTTTTTTCAATTGTATGAAGGCCTTAAAAAAGCTACATTAAGCGTAGCTAAAATTATTTATTGGACTAAAAACTAACAGAACTTCATTTCCAGAATTTTTTTTTTTTTTTTTTTTTTTTGGCAAATGTTTACATTCAATTAAGGGGAAAAAGTAGAACCAGCACAAATGAGTGGCAGTTGCTGGAGCATAACTGCTTCAATAAATCTTCATCTTGGGGTAATTACAGGCAAGTCATTTTCACATCCTCTTGAGGTTCAGAGCATCAGAATGAACTCTATGAATACATGTGTAAGTGCCAGACAGCTGAATCTTTATCAGGTATTGTAAAGATACACATATGATATGTTTATTAAAATTGAAATAATGTAAAACACATGAATAAATTTGCAAAACCAAGATCACAGTACACCATATGCACTCTGGTACCTTAATTTTTTTTTATAAATAATAAAAGTGAATATTGAAGCTTCTTAAAGTTGGTCTTAATTTTTCATAAATAAAATTTGGGGTTATAACAGAAATAATACATTAAATACATAGACAAAAAAAGTTAAACATAAGATAATCTATTTTACAGTGTTTCTTATAGGCTTACAATTATTTGAATGTATTTCCAGTTCTTGTATGATTAACTTTTGTGCATATCTAACTTTTTATTATTTTTATCTTTGGCTACTGCACGTGCATCTCTCGTCATTCCTCCACCAAATAAACAGACAAAAGTAGTATTGAAAAGTTTACAGTCCCTTATCTAATGGCAAATTGTGTGTATGTATGATTTTTTTATCTTGTTCTCTTAAGATTTACTGCTGCTTAAAATTACTACCAGTAATCCTTAGTCACTCCCAACTGTTTCTGCTGTATCTCATGAAGTGTTAGAGCGTTTATGAGAAACATAAATACATGTATAAGCATATTGGTCACACCTTCTGGGCTAGCTAGGGTCCAAAGTCTATCCATGAAAGCTACATGCATGTTCTCTCTCACACACTCATGGACTTTCACCTGCACACACATACAGGTCCCCATTTGTATAGGTTTAGTCCAGTAAGAGAATGGAGAAGCTCAGTAAAGGTAGGATGACTTCCCAAGGTTATACGGCTGATCAACTGTTGGAAATTAATTACAGACCTTGCTTTACAACCCAGGTTTTGCTATTTCAGGTAAGTACTACCTACAGCAGGAATCAGTAACGTTTGGCCCTTTAACCCAAACTGGACTGCTGCCTGTTTTTGTAAATAAAGTTTTATTGGAACAGA)$ MPNVAETERSNDSGNGEHKSERKSPEENLQGAVKSFCTSASGAPLGPKGDGHYPWSCPVTHTREKIYAICSDYAFLNQATSIYKTPNPSRSPCLPDSTSLSAGNNSSRYIGIPTSTSEIIYNEENSLENLSNSLGKLPLAWEIDKSEFDGVTTNSKHKSGNAKKQVSKRKTSDKKGRYQKECPQHSPLEDIKQRKVLDLRRWYCISRPQYKTSCGISSLISCWNFLYSTMGAGNLPPITQEEALHILGFQPPFEDIRFGPFTGNTTLMRWFRQINDHFHVKGCSYVLYKPHGKNKTAGETASGALSKLTRGLKDESLAYIYHCQNHYFCPIGFEATPVKANKAFSRGPLSPQEVEYWILIGESSRKHPAIHCKKWADIVTDLNTQNPEYLDIRHLERGLQYRKTKKVGGNLHCIIAFQRLNWQRFGLWNFPFGTIRQESQPPTHAQGIAKSESEDNISKKQHGRLGRSFSASFHQDSAWKKMSNISIWLNQALKGVRDRHGNSIENPHLLTLFHRLCKLLFFRIRPIFVFDGDAPLLKKQTLVKRRQRKDLASSDSRKTTEKLLKTFLKRQAIKTAFRSKRDEALPSLTQVRRENDLYVLPPLQEEEKHrwslccpdwsavaqsql|LCRKGCALADHLLHTQAQDGAISTDAEGKEEEGESPLDSLAETFWETTKWTDLFDNKVLTFAYKHALVNKMYGRGLKFATKLVEEKPTKENWKNCIQLMKLLGWTHCASFTENWLPIMYPPDYCVF* 01BR027 ENSG00000134899.22 ENSG00000134900.12 +/+ +/+ chr13:102855323 chr13:102674320 intron CDS duplication 3 1 0 7 155 medium in-frame . XPG_N-terminal_domain(100%)| . . ENSG00000134899.22 ENSG00000134900.12 ENST00000602836.2 ENST00000376052.5 downstream upstream mismappers(3) ^(GAGCTCATTTTGCAGCTCTCAAGCTTTTATAGCATGCTGTAAACAATTGTCAAAGTTGTTTATCAAGAAACAGATAGAGTTGCAACTTGTTTCTAGTAATAGAAACTTTTACACTGCATTCAATGCCTAACGTTGCAGAAACAGAAAGGTCAAATGATTCTGGAAATGGTGAGCACAAATCTGAGAGAAAGTCACCTGAAGAGAATCTACAAGGTGCTGTAAAATCTTTCTGCACAAGTGCCTCAGGAGCACCCTTGGGTCCCAAAGGAGATGGTCATTATCCATGGAGTTGTCCAGTGACTCATACACGGGAAAAAATTTATGCCATCTGTTCGGACTATGCCTTTCTCAACCAGGCGACCTCAATCTATAAAACTCCAAATCCATCCCGCTCTCCTTGCCTCCCTGATAGTACCTCTTTATCTGCTGGAAATAATTCATCAAGATACATTGGTATCCCGACTAGTACATCGGAAATTATCTACAATGAAGAAAATAGCTTGGAAAACTTATCCAACAGCCTGGGCAAGCTACCTCTCGCATGGGAAATTGATAAATCTGAATTTGATGGGGTGACCACAAATTCGAAACACAAATCAG___GCAATGCAAAGAAACAAGTTTCCAAGAGAAAAACTTCAGATAAAAAGGGAAGATATCAGAAGGAATGTCCTCAGCATTCTCCTCTTGAAGATATTAAACAGCGGAAAGTATTAGACCTCAGACGATG___GTACTGCATAAGCCGACCACAGTATAAGACTTCTTGTGGCATCTCTTCATTAATTTCTTGTTGGAATTTCTTATACAGCACAATGGGAGCTGGAAA___CCTTCCACCTATTACCCAAGAAGAAGCTTTACATATTCTGGGCTTTCAACCTCCATTTGAAGATATTAGGTTTGGTCCTTTCACGGGGAATACAACACTTATGAG___GTGGTTTAGACAAATTAATGACCACTTCCATGTAAAAGGATGCTCTTATGTTCTATATAAGCCTCATGGGAAGAATAAAACAGCAGGAGAAACTG___CTTCAGGGGCCCTGTCAAAGTTAACCCGTGGATTGAAAGATGAATCGCTGGCTTATATCTATCATTGCCAAAATCATTATTTTTGTCCAATTGGCTTCGAAGCAACCCCTGTTAAAGCTAATAAAGCATTCAG___CAGGGGACCTCTCTCACCACAGGAAGTTGAATATTGGATCTTAATTGGAGAATCAAGTAGAAAACATCCTGCCATTCACTGTAAAAA___ATGGGCAGATATTGTTACTGATCTAAACACTCAAAATCCAGAATACCTGGATATCCGGCACTTAGAGAGGGGACTGCAGTATAGAAAAACAAAGAAG___GTTGGGGGAAATTTGCATTGCATCATAGCATTCCAGAGACTTAACTGGCAAAGATTTGGCCTTTGGAACTTTCCATTTGGAACCATTAGACAAGAATCACAACCTCCAACACATGCCCAGGGAATTGCCAAATCTGAGAGTGAAGACAATATTTCCAAGAAGCAGCATGGGCGTCTGGGCCGGTCTTTCAGTGCTAGTTTCCATCAGGACTCGGCATGGAAAAAGATGTCTA___ATATTAGCATTTGGTTAAACCAAGCACTTAAAGGAGTCCGGGATCGCCATGGGAACTCAATAGAAAATCCTCATCTTCTCACTTTGTTTCATCGGCTCTGCAAACTCTTATTTTTTCGAATTCGTCCTATTTTTGTGTTTGATGGGGATGCTCCACTATTGAAGAAACAGACTTTG___GTGAAGAGAAGGCAGAGAAAGGACTTAGCGTCCAGTGACTCCAGGAAAACGACAGAGAAGCTTCTGAAAACATTTTTGAAAAGACAAGCCATCAAAACT)GCCTTCAGAAGCAAAAG___AGATGAAGCACTACCCAGTCTTACCCAAGTTCGAAGAGAAAACGACCTCTATGTTTTGCCTCCTTTACAAGAGGAAGAAAAACACAG___ATGGAGTCTCTGTTGCCCAGACTGGAGTGCAGTGGCACAATCTCAGCTC|CTTTGTAGGAAAGGTTGTGCCCTGGCAGACCATCTTCTTCACACCCAGGCTCAAGACGGAGCCATTTCCACTGATGCAGAAGGAAAGGAG(GAGGAAGGAGAAAGTCCTTTGGATTCTCTGGCAGAAACATTTTGGGAAACTACTAAATGGACTGATCTCTTTGACAATAAG___GTTTTGACATTTGCATATAAACATGCATTAGTAAATAAAATGTATGGGAGAGGCCTTAAATTTGCAACTAAACTTGTGGAAGAAAAACCAACAAAAGAAAACTGGAAAAATTGTATTCAA___CTGATGAAGTTACTTGGATGGACCCATTGTGCATCTTTTACTGAAAACTGGCTCCCCATCATGTATCCTCCCGATTATTGCGTATTCTAAAATAGGAAACAAGACTTTAAATTTTAAAAAAGGAAGTTTTATAGTGAATGGGTATAAAAACAAATTTGTGGCATTTTTAGTCTAATGCATGTTTTCATCCACTATCCAGTACTGATTATTAAAATGACATGTATTTATCAGAGAATTCACTGACGTGTGGCTTAATACATGTAAATCTAGACCTCTGACATCATGGTGTTTTCTTAATGCCTCACATTGCTGGCACGGGGATGTGCCCTGCCTGCCAGCACCTAGGACTTCGAGTTGGGTTGCAGCTTATGACATGCATGATAGGTTTTGGAAGGTAACTTTTAACTGCAAACCTATAAAGTACTATTTTTTATTTTATAAATGAACAGGGTTTTAACGTGCTCAACTTTAATTTTTTTCAATTGTATGAAGGCCTTAAAAAAGCTACATTAAGCGTAGCTAAAATTATTTATTGGACTAAAAACTAACAGAACTTCATTTCCAGAATTTTTTTTTTTTTTTTTTTTTTTTGGCAAATGTTTACATTCAATTAAGGGGAAAAAGTAGAACCAGCACAAATGAGTGGCAGTTGCTGGAGCATAACTGCTTCAATAAATCTTCATCTTGGGGTAATTACAGGCAAGTCATTTTCACATCCTCTTGAGGTTCAGAGCATCAGAATGAACTCTATGAATACATGTGTAAGTGCCAGACAGCTGAATCTTTATCAGGTATTGTAAAGATACACATATGATATGTTTATTAAAATTGAAATAATGTAAAACACATGAATAAATTTGCAAAACCAAGATCACAGTACACCATATGCACTCTGGTACCTTAATTTTTTTTTATAAATAATAAAAGTGAATATTGAAGCTTCTTAAAGTTGGTCTTAATTTTTCATAAATAAAATTTGGGGTTATAACAGAAATAATACATTAAATACATAGACAAAAAAAGTTAAACATAAGATAATCTATTTTACAGTGTTTCTTATAGGCTTACAATTATTTGAATGTATTTCCAGTTCTTGTATGATTAACTTTTGTGCATATCTAACTTTTTATTATTTTTATCTTTGGCTACTGCACGTGCATCTCTCGTCATTCCTCCACCAAATAAACAGACAAAAGTAGTATTGAAAAGTTTACAGTCCCTTATCTAATGGCAAATTGTGTGTATGTATGATTTTTTTATCTTGTTCTCTTAAGATTTACTGCTGCTTAAAATTACTACCAGTAATCCTTAGTCACTCCCAACTGTTTCTGCTGTATCTCATGAAGTGTTAGAGCGTTTATGAGAAACATAAATACATGTATAAGCATATTGGTCACACCTTCTGGGCTAGCTAGGGTCCAAAGTCTATCCATGAAAGCTACATGCATGTTCTCTCTCACACACTCATGGACTTTCACCTGCACACACATACAGGTCCCCATTTGTATAGGTTTAGTCCAGTAAGAGAATGGAGAAGCTCAGTAAAGGTAGGATGACTTCCCAAGGTTATACGGCTGATCAACTGTTGGAAATTAATTACAGACCTTGCTTTACAACCCAGGTTTTGCTATTTCAGGTAAGTACTACCTACAGCAGGAATCAGTAACGTTTGGCCCTTTAACCCAAACTGGACTGCTGCCTGTTTTTGTAAATAAAGTTTTATTGGAACAGA)$ MPNVAETERSNDSGNGEHKSERKSPEENLQGAVKSFCTSASGAPLGPKGDGHYPWSCPVTHTREKIYAICSDYAFLNQATSIYKTPNPSRSPCLPDSTSLSAGNNSSRYIGIPTSTSEIIYNEENSLENLSNSLGKLPLAWEIDKSEFDGVTTNSKHKSGNAKKQVSKRKTSDKKGRYQKECPQHSPLEDIKQRKVLDLRRWYCISRPQYKTSCGISSLISCWNFLYSTMGAGNLPPITQEEALHILGFQPPFEDIRFGPFTGNTTLMRWFRQINDHFHVKGCSYVLYKPHGKNKTAGETASGALSKLTRGLKDESLAYIYHCQNHYFCPIGFEATPVKANKAFSRGPLSPQEVEYWILIGESSRKHPAIHCKKWADIVTDLNTQNPEYLDIRHLERGLQYRKTKKVGGNLHCIIAFQRLNWQRFGLWNFPFGTIRQESQPPTHAQGIAKSESEDNISKKQHGRLGRSFSASFHQDSAWKKMSNISIWLNQALKGVRDRHGNSIENPHLLTLFHRLCKLLFFRIRPIFVFDGDAPLLKKQTLVKRRQRKDLASSDSRKTTEKLLKTFLKRQAIKTAFRSKRDEALPSLTQVRRENDLYVLPPLQEEEKHrwslccpdwsavaqsql|LCRKGCALADHLLHTQAQDGAISTDAEGKEEEGESPLDSLAETFWETTKWTDLFDNKVLTFAYKHALVNKMYGRGLKFATKLVEEKPTKENWKNCIQLMKLLGWTHCASFTENWLPIMYPPDYCVF* 01BR027 ENSG00000258653.3 ENSG00000119661.15 +/+ +/+ chr14:73922206 chr14:73695902 3'UTR/splice-site CDS/splice-site duplication 4 0 0 97 33 medium stop-codon . . . . ENSG00000258653.3 ENSG00000119661.15 ENST00000556551.2 ENST00000553645.7 downstream upstream . ^(ACTGTGGCTCCCGAAGCTGCTTCGGGCCCCAGCGGTGAGGAAGAAGACTCTCAACCAGGGTGACTTCTAGGCGTCCTCCCGGAGCTACCGGGGACACTGGCGTTATTGCCCGCAACACTGAGATAGGGAATGCTCGAGAAACAGAA___GAGTATTTTATACAGAAATCTTGTGAAACCACTGCCCAACCAGAGCAATGATTGTTCAAAGAGTGGTATTGAATTCTCGACCTG___GAAAAAATGGTAATCCAGTGGCAGAGAATTTCCGAATGGAAGAAGTCTATTTACCAGATAATATTAATGAAGGACAAGTACAAGTTAGAACTCTTTATCTTTCTGTGGATCCTTACATG___CGTTGTAGAATGAATGAAGACACTGGCACTGATTATATAACACCTTGGCAGCTATCTCAAGTCGTTGATGGAGGAGGTATTGGAATTATAGAAGAAAGCAAACACACAAATTTGACTAAAGGCGATTTTGTGACTTCTTTCTATTGGCCCTGGCAAACCAAGGTTATTCTGGATGGAAATAGCCTTGAAAAG___GTAGACCCACAACTTGTGGATGGACACCTTTCATATTTTCTTGGAGCTATAGGTATGCCTGGTTTGACTTCCTTGATTGGGATACAGGAAAAAGGTCATATAACTGCTGGATCTAATAAGACAATGGTTGTCAGTGGGGCCGCAGGTGCCTGTGGATCTGTGGCTGGGCAG___ATGAATGAGAACAGCCACATCATCCTGTGTGGTCAAATTTCTCAGTACAACAAAGATGTGCCTTATCCTCCCCCGCTATCCCCTGCTATAGAGGCAATCCAGAAAGAAAGAAACATCACAAG___GGAAAGATTTCTGGTATTAAATTATAAAGACAAATTTGAGCCTGGCATTCTACAGCTGAGTCAGTGGTTTAAAGAAGGAAAGCTAAAG___ATTAAAGAGACGGTAATAAATGGGTTGGAAAACATGGGAG___CTGCATTCCAGTCCATGATGACAGGAG___GTTACATTGATTACCCACCTAGTACAACATCTTACGGGAAGAGCATAGTATTTCCTAGAGGAATATGAACATAACAGGAAGGTATCATTGGCTCTGAATTAAATTTGAACTTGTCCCCTGAATAGCTACAGGTTTTGGAAGCTGAATCAATGTTATCAGATGAGTTAGAATCCAAACCAGAG___CTCCTGGTACAGTTTGTTCAGAATACGTCCATCCCATTGGGACAGGGGCTTGTAGAATCAGAAGCTAAAGATATTACTTGCTTGTCCCTCCTTCCCGTGACTGAAGCCTCAGAATGCAGTCGGCTAATGTTACCAG___AATGACTGTTATCTTAAAGATGGAAGATAACAAGTGTTGGTAAGGATATGGAGAAAAGGGAACCTTTGTACACTGTTGGTGGGAATGTAAGTTAGTACAGCCATTATGGAAACCGTATGGAAGTTCCTCAGAAAACTAAAAATGGAGCCACTATATGACCCAGCAATCTCACTTGTAG___ATGATACTACAAATCATTCTAACTCCTCCAAGGAGGTCCCTTCCTCAGCTGTTTTGAGAAGCCTTCGGGTGAATGTGGGTCCAGACGGAGAGGAGACGAGAGCTCAGACTGTACAGAAATCCCCGGAGTTTTTGTCCACTTCAGAGTCTTCTAGCTTGTTGCAAGATCTACAGCCAAGTGATAGCACTTCTTTTATTCTTCTTAACCTAACAAGAGCAG___GTCTGGGCTCTTCAGCTGAGCACTTAGTGTTTGTACAGGATGAGGCAGAAGATTCAGGGAATGATTTCCTCTCCAGTGAGAGCACAGACAGTAGCATTCCATGGTTCCTCCGGGTTCAGGAGTTGGCCCATGACAGTTTGATTGCTGCTACTCGTGCACAACTGGCAAAGAATGCAAAAACCAGCAGCAATG___GAGAAAATGTCCACCTTGGTTCTGGTGATGGGCAGTCAAAAGATTCTGGGCCCCTTCCTCAAGTGGAAAAGAAGCTCAAGTGTACAGTTGAAGGTTGTGACCGGACATTTGTATGGCCAGCTCACTTTAAATACCACCTCAAGACTCATCG___AAATGACCGCTCCTTCATCTGTCCTGCAGAAGGTTGTGGGAAAAGCTTCTATGTGCTGCAGAGGCTGAAGGTGCACATGAGGACCCACAATGGAGAGAAGCCCTTTATGTGCCATGAGTCTGGCTGTGGTAAGCAGTTTACTACAGCTGGAAACCTGAAGAACCACCGGCGCATCCACACAG___GAGAGAAACCTTTCCTTTGTGAAGCCCAAGGATGTGGCCGTTCCTTTGCTGAGTATTCTAGCCTCCGAAAACATCTGGTGGTTCACTCAG___GAGAGAAGCCTCATCAGTGCCAAGTCTGTGGGAAGACCTTCTCTCAGAGTGGA)AGCAGGAATGTGCATATGAGAAAGCATCACCTGCAGCTGGGAGCAGCTGGGAGTCAAGAGCAGGAGCAAACTG___CTGAGCCACTAATGGGCAGTAGTTTGCTTGAAGAGGCTTCAGTACCCAGTAAAAACCTGGTGTCTATGAATTCCCAGCCCAGCCTTGGTGGAGAGTCCTTGAACCTACCAAATACCAATTCTATCCTGGGAGTTGATGAcG|GTACTCCAGTAATTAAAGGGGATGAGGAAGAAGACAACTAAT(GCCACGCTTTCCACTGTGTGTTAACTTATTTAAATGTCATAAGAACAATAGATAAATTTTATATAATTGTCTATTTTAAAGATTCTGTATGGGACAAAAGTTTCTTAAGATAAAACAGATCACTCATTCTCATCTTTTTTTTTCCTTTAACTTATTCAGTGTTTCTCCCCAAAACTGGTAATGCCAACCTTATATATCCTATTTCTCTTTTTAGAAACCACAAATTTTCGATTTTTGTCTTCAGTCTCAGTTACGTACTGTGTAGCCCCATCTACTAAAACAAAACCTTTGTAGACCAGTCATTTTTAATAACAAAGGAACAAATGTTTTTTTCAGTTTGTTCATTTTTTTTAGGTTAGACATTTTAAAAGATGTACATTTGAAAATTCAGAACATTTTTCCTGAAGGTCTGTCTCTGTACAATTCAGAAGCACATGCCTTTAGCTCAGAAGGCAGCATGGTGATGGGAAGAGTTCCTCTTAGAAATACAGCAGGTCCGGAACCAAGACTCCAAAGTTCCATTGGAAAAGATATGGTGAAAAAAGGAAAAAGTAGTATCTCAGAGACCTTCTAGTCTATATTATACTTATTTGTTTTTCCAAAAATGTGCACATTGTCAACTGGAATTTAGGTTGTTTTTATATGCATGGCCACTTGAGTCATTGTGTACAGTCATTCTGTGATCTCAGTTAGTGGTTAAAATGACTGTCATGATCATTTCTTTGACTGATAATGTGGCAATGTTACTCATGTGGACCTCGCCTTAAGCACACATTTTGGTTTTATAGTTCCTTATGTGTTTAAAGCATTAGTTATATTTGAATTCCTAGACTAAATGCTGGCCATTGATGTATGTCAAAATTTACCCTAATTATTTGGTCTGGTGACCCTCATTGTTGGGAAAAGTGACTACCATGGTTATAAGTAAGGGTATAATGAAACTTAGTATTTCAAAATATATTTTTTGAGAAGTTCTAAGTTAAACAGCTCTTAAAATGTATTATGTACGTGGTTGTGGAGGGAAGGGAGATGTTTCATTATGAGATCCCAGGCAAATGGCAATATGTTTGAGGATTGTCTCCTACATAAAGCAGTGTAGGTGATTTAACCTCAAAATTGCAAAGCAATAGTTAGATGCAGAGGTTAGAATTTATCATGTAAACAAAAAATCCTTCAGGAAAATGTAAGACATTGTAGTCAGTAAGCAGATGAGGTCATAGGAGGCCATGGCTGGATCACTATTAGATTGCAGAAAAGAAGTCAGGGGCCCTCTGCCAAATTGTGCCTAAAGTCCCTCAGAGACTGTTGATTCTGGTTTCCCCATCTACTTGTGTGATTTTACTTGCATAAAATCACAGTGAAAGAGGGAAGAATCATCTTTAAAAAGTGATTGCATAAGTAGTCCTGGGTTTCAGAAGATTTCAGCTATCATTTACATAGGAATTACTTGATTTTTCTAAGTTACTCTGATCAAAAGGGACCACTGCTTTGACAATCAACTCTAAATACAAACAAGAGGCCAGGCGTGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGTCCTGGTGGTGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCATTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAATAGAGCGAGACTCCATATTTAAAAAAAAAAAAAAAAAAAAAAGAGGAAAACTTGGTCTAACACCCTTTTAGTTTTCTTTTCTCTCTTCTTTTCAATCTGATAGGAAGAAACCTTATTCTACTCTAGCTGGTTTATGCATTCAAAGCCTTTGGACATTTCTTTTATGAACCATAGGCAATGAGCCTTCATTCTCCTTGGTGATGTTTTAAGTTCCATAAACTGAGAGGGAAGATGATCTTCTTAAAGTTTGCACTTCCTTCAGTAGGCAAGCTTGAAGCCATGTTGATATGGATATGTTTTCTAAAAGTAACCCTGGAAGTGAATATAATAGGAAGTAAGTGATTTCATATTGAATTTATTTGTAAAATGGCTTAGAGTTTTGGTGTTTGTTTTTTCTGAATTCTGTAATATAGAAACTGGTTCTCTTTCTCCTTGTTTCTCAATGACTTTTAATTACAGGTAGTTCTCAGACAAATGTAAGATACTTTTCTCTGTCCATTTCATGCAAAATTCATATTCAGTATCATTCAACAAATCTTTGAATGACTTCTATGCATCCCTGTTCATGGAACCCATGCCATTAGAAAATGGCAGTTGGGATGTATGAAGAAATGTAGGATATTCTCTCAAATCATTCCCTAAATTATCCTTTACTGCTGCAAATTTAGCTGATAAAACTGCCTTTGGTTTATGCCTCTTGGATCAGATATTTGACCTATGTGGAATAGATTATCTCTGTGCTTCCGGTTTAAGACATTACGCCATTTTAGTGGATCATTTAAATTTTTTCTATTCTGTTTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAACAGAGTCTCACTCCCGAGTAGCTGGGACCACAGGCACGTGCCATCATGCCTGGCCTATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTTGTCTTGAACTCCTAACTTCAGATGACCTGCCCACATCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCAAATTTCTTCTATTCTTGTAAGTGATGGTAAAACTCTGGAATCAGTCCAGTATTTTAGTTTTTCACAGCAAATTTGATTTTAGTCTACCAAGGAGTTTAACTTTTCTATGTTCCCTAACTCTAAGATTAGGGCTGTATTACCTAGACAGGCCTTAAAAGGTTTTTGTGTTGTTCTCTGTTAATAAGAATTTGTTCCTTTAAACCAGAGGATCAACCTTGGAACTATTAACATTTTGGGATTGATAATTCATTGTTGTTGGGGGCTGTCCTGTGTGCTTAGGATGTTCAGCTGCAGCCCTGGCCTCTACCCACTAGATTCCAGTAGACCCCCTCCTCAGCCATGACAACAAAGATATCTCCAGACATTGCCATCTGTCCCTTGGGTAGGAGGGTGGGAACAAATTCTCCCTTAGTTGTACTTTTTATACCAACATCACTTGTGTCCAGGGTCCATTTATTTTCAGTCTGTAGCCATGTGCCACTTGAATTGTTATATGAGAGAAGGTGATGTATTCAGTAATCATGGATGGAAAGAAATGGTCACTGGTATTTTTTGTAATGCTCATTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTACCTAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCAATTCTTCTGCCTCCGCCTCCCAAGTAGCTGGGACTACAGGCACGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGCGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGACTGGCTTAATGCTCATTTTCATAATTTTCATGTAATATTAGAAACTCAGGGCTGGAAGGTTCAACTTCTCTTTTTTGAAGCAGGGTCTCAACTTTTATTTCTAAGCATTCTTGCTTATCTTAGGACAGTGATTATTAACCTACCTCTCTGTTTCTATCAACAGAAGCCAACTTTATGATAGATTTTGCTTTGTCTCTAAAGTTTAATATTTTGAGTGTACTTTAGAAAATAGGTCATCATTCTTTAAGCGTCATTCATTGTCTAATCACATAATTTTGCAGACCATGGCAGTCATTAAATACAGAAAAATACTGTGTAAAATTTGATAATCTTGTAGGAAAGTTAGCTGATGTAGACATCAATTTTGGATGTGATCAGAAGAATGTCTGCTTAAGATAACTGGTCAATAACTTGGTATGGCTACTGGATTCATTCCACATATGGTAGTATAAGGCACTTAAATGTGTTTCCTGATTGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACGTGGTGAAACCCCATGTCTACCAAAAATATAAAAAGATAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGCTTCAGTGAGCCGAAATAGTGTGACTGTACTCCAGCCTGGGTGACAGAGTAAGTCTCCGTCTCAAAAAGAAAAAAAAAAATGTGGTTCTTTTGTGGAAAGAGGAATTTGAACTTGAATAAACACTTCTTTTGACACCTTTTACCAGTGGTCTGAAGCAGAATAAGGAAGAATAAGAAATGAATCTTGACTGTTGACTTATTCTGAGAATTGGTGATGTGTAAAGAGAGTTGGAATCTTCTACCTGGGTTTTTCTCAGGGCTAAATGGAAAAGCACAGGGCCCAGAAAGGTTGGAGTTAATCATTCACTTAAAAGCATTAGGAGGAAGTGTCAAAGCATCAGTCATGAATAGATTATGTCTCTCTGACTACAGTCAGACCATCAATTCACTAAGACCTTATACTCTGTAAGTGTTGGTAAAGGAAGAAAACTGCTAAATTGCATGTTACCCTTTACTAGAAATTCATTCCTTTGGCACAGATTTTATTTATTTGGGGCTGTTTAATGTGTCTGTAAATCATGAAATATAAAAGCAAGATTCAGTGTAGCAGAGTTGGTGCTTCTTCTGACAAGCTAACTTGACCATATTTCTTTATCTGTGCTCTAACATGTGTCATATTGTTTTCTTTTTGTAAACCATAAAATGGGTGAACTTCCAAAAATCAAGGGTCATGTTTTAAAATCATGGAACTTTTAGAAATACCATATCTGTATCTCTATTCCTGCATTTTATAAATCTGTAAAGGAAGAAAACTGAAAGGAAGAACTAGACTGAGTCTTACCTTTCTCTGACCTAAGATAAACTGATAAAACTTTTTACTTGATATTTGGAGAAGTCATTAACTGGATTCTAGTTAATTTCCCATATTGGGCAGTTTAGAGGAGACCCAGCCAACCAAATTATGATCTAGCAAATTTAACATAGGGGAAGAGGGATAGTAAACTATTTTTCAGTAGATTTGCACTTTAAACTTAGGAACTGGATGTTGGTGGAAAGGACTTCCATAGGGCAGATGGGTAAATATCTAGCCTGCACTTGGATGTTAGAGAATCAAACCTCACCCTTGCTCGTTCTAAACCCACATGAGTAGTTAACTGTCTTTTGACATAATCAGAGTCAGGATTTCCCTTTTTCCCTACTTGAGTCGTCTTCCATGTCTGTTACATCCAAGATCATCCCTCTGGGGGATGTGTCAAGTAGTTCTCCTACTCAGAATAGAAGCTTTGCGAATTATCATTCCCACCTCTAGATTTTAAATGAATGTAGAGTTGTCTAACATTATATGGGTGGGAGGCTCTTTGCCTCTGTGATCAGTAGGGTACCTGCCTCTGAGGTGCTACTGCCTGGAGGGATCACTCCCATCAAAAGACTGGTGAGTTGGAAGCTAAGAGCACATGCGCATAGCCAGCTCCTCTCCCAGGCTGGCAGTCATGATTACGAGCATCATTCCAGAATCTTTGGCTTCTAGAACCAACTCCATTCTGAAGAACATTTTAACATCTATGAATACCTTGGTAATAATCTTTTATACACAGGAGTTTTGTAGCATGACTTTATGACTAAACTTATTGTGAATTAAGTTATTTAGAAATGTTGAGTTTCTGAATGTTATTTTGTGATTTGTTTCAAAATGGTAATAAATTGTGTTATTTTGTAAAAAAAAAAAAAAGTATATTTTTGGTACATGATTATTAGTTTTAGCTAATATAGAGCAATTATATAAACTTCTAGTGATATTCAGTCCAAAGAAATTCAGCCTTTGGATAACATGTACCATGCAGTTTGTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGCACGTGCATGAGAGAGAGTGAAAGAGAGAGGTGTTTTTTGTTTTGTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCACTGGCACAATCTCGGCTTACTGCAACCTCCACCTCCCGTGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGAGTACTGGGACTACAGGCGCACACCACCATGCTTGGCTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCATGCTGGCCAGGTTGGTCTCGAACTCTTGACCTCGTGATCTGCCCGCCACAGCCTCCCAAAGAGCTAGGATTACAGGCACGAGCCACCGCGCACGGCCAGAGGCATTCATTTCTTTAGCTAAGTTTTTTTTTCTTAGTAGGTTTTTTTCTCCCAGGCTTGTAACTCTTCCCCAGTTCTTTGGGCACTATTTCAAATTATTAGGCTTCTGGAAAGAGTGCTTCCAGGGACAGCAAGTTACTACTGCACTTGACCATTCCTAGTCCTCACCTGATTACCAGAAGGTACGCAAGGTAAAAGTTAGCTGATAGGCCCTGAATTGAGAAAAAGGAATCACCAAGCAATATCCGTAACATTACACATTTTGCCAGCACATTTTCTATGCTATCAGCTAAAACGTAATTTTGGTCACAAAATAGGGCTGTAGTGTAGTTTCTACTTCTTATTCCAGTTGTTTGATTATGAGGATACATTTCTTGCTGCTGTCCTCCACTAAACAGCAGACAAATTGCCAGGTGTGCTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAAGGCAGGAGTTTGAGACCAGCCTAGGCAACATCGTGAGACCCCATCTCTACAAAAAAAAAAAAAGAAAAAAAAAATTAGTTGGGCATGGCAATGCCGCCTGTGGTCCTAGCTACTGGGGAGGCTGAGGCAGGATTGCTTGAACCCAGAAGTTTGAGGTTACAGTGAGCTATGATCATGTCACTGCAAGACCCTGTCCCTAAAAAAAGGAAAAACAAATAGAAGACAAATTTCAATTTCTGAGTTTATACAAAGAAAGCCTTAATTCAGATCATAAATATCCCATTGTTATTTTTAGTTCATTGTTTCCTAGAACAAAGGATGGACATTTAGGATCCTCACATTGATTTATGTCATATATATGTATTGCATTGAATATATATATACGCATGTAGATACATACAATTGTTATATATAATTAAAAGTCAGAATCTTAGGTGATAACTGTCAGACCTCTGAGCCCAAGCTAAGCCATCGCATCCCCTGTGACTTGCACGTATACATCCAGATGGCCTGAAGTAACTGAAGATCCACAAAAGAAGTAAAAATAGCCTTAACTGATGACATTCCACCATTGTGATTTGTTCCTGCCCCACCCTAACTGATCAATGTACTTTGTAATCTCCCCCACCCTTAAGAAGGTTCTTTTTAATTCTCCCCACCCTTGAGAATGTACTTTGTGAGCTCCACCCACTGTCTGCAAAACATTGCTCTTAACTTCAGCGCCTATCCCAAAACCTATAAGAACTGATGATAATCCACCACCCTTTGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCATGTTACTCACACAAA)$ . 01BR027 ENSG00000150961.15 ENSG00000172403.11 -/- +/- chr4:118805843 chr4:118902305 CDS/splice-site intron duplication/5'-5' 1 3 0 82 6 medium out-of-frame . . . . ENSG00000150961.15 ENSG00000172403.11 ENST00000280551.11 . upstream downstream . ^(GTTTGACGTGGCAGTTCCCAGCCCAGCTGCAACTCCGAGCGTGAGTCCAGGCTAAGGGGACGCCGGCCGGGGAAGAGGCGCGGCGGGAGAAGCGACCGCAGCGGGAGCCCGGCCACCGAGGGCTGCCGGCACTAGGCGCAGAGCCGCCAGCGCTCGGAAGCCCGCGGGGTGCGGGAGCGGGAACAG___ACTTCTTTTGTAGAATTATCCTATGGAATGATATTTTCATAATGAGTCAACAAGGTTACGTGGCTACACCTCCGTATTCTCAGCCTCAGCCTGGAATAGGCCTTTCTCCACCTCATTATGGGCACTATGGGGATCCGTCGCACACAGCATCTCCAACAG___GTATGATGAAGCCAGCAGGGCCTTTGGGGGCCACCGCCACTAGGGGAATGTTGCCTCCGGGTCCCCCACCTCCTGGACCCCATCAGTTTGGTCAGAATGGAGCTCATGCCACTGGTCACCCTCCCCAAAG___ATTTCCAGGCCCTCCACCTGTCAACAATGTGGCATCCTCACATGCACCATACCAACCCTCTGCACAATCTTCTTATCCAGGTCCTATATCCACTTCATCTGTCACCCAGCTGGGCAGCCAGCTCAGTGCTATGCAAATCAACAGCTATG___GTTCAGGCATGGCTCCTCCAAGCCAGGGACCCCCTGGCCCTCTGTCAGCCACATCATTGCAGACTCCTCCACGACCTCCACAGCCTTCCATTTTGCAGCCTGGATCTCAAGTTCTTCCACCACCACCCACCACACTCAATGGTCCTGGTGCCTCACCTTTGCCTCTACCAATGTACAGACCAGATGGGCTCTCTGGGCCTCCTCCTCCAAATGCCCAGTACCAGCCCCCACCTCTTCCAGGCCAGACCTTGGGTGCTGGATATCCTCCGCAGCAGG___CCAACTCTGGTCCCCAGATGGCAGGCGCACAACTGTCTTACCCAGGAGG)CTTCCCTGGAGGTCCTGCACAGATGGCTGGTCCGCCACAGCCCCAGAAGAAGCTGGATCCTGACTCTATCCCTAGCCCA___ATCCAGGTGATTGAGAATGATAGAGCCAGCAGAGGAGGACAAGTTTATGCCACCAACACCAGAGGCCAGATCCCTCCCCTGGTCACTACAGATTGCATGATACAAGACCAAG|TGTGAAAATGGACGAATACAGGTGCTCTAGAGACTGGTCAGTAGGCTGCTACATCATGAGAAGCCGAAATGGATGAAGAGGAAATTTGAAGACCACATTGCAAAGTTGTTCTTAAAGGACCTGTGCATTAATCATTTAATGATGGGAAAATAACCAC MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGMMKPAGPLGATATRGMLPPGPPPPGPHQFGQNGAHATGHPPQRFPGPPPVNNVASSHAPYQPSAQSSYPGPISTSSVTQLGSQLSAMQINSYGSGMAPPSQGPPGPLSATSLQTPPRPPQPSILQPGSQVLPPPPTTLNGPGASPLPLPMYRPDGLSGPPPPNAQYQPPPLPGQTLGAGYPPQQANSGPQMAGAQLSYPGGFPGGPAQMAGPPQPQKKLDPDSIPSPIQVIENDRASRGGQVYATNTRGQIPPLVTTDCMIQDQ|v* 01BR027 ENSG00000143149.12 ENSG00000228289.1(3919),ENSG00000212538.2(150060) -/- ./- chr1:165695252 chr1:163773610 CDS/splice-site intergenic deletion 3 0 0 90 6 medium out-of-frame . Aldehyde_dehydrogenase_family(100%)| . . ENSG00000143149.12 . ENST00000354775.4 . upstream downstream . ^(GGATCCTAGGATGCTTACATGCAATGATGAACCCGAAAACACTTGCAAAGTGCTACGCAAATATTGATCACGAAGAAGGAAGTCCTCTTCCCGCCTGGAGACTGTGTGGGGTATGGCGGGGTGGTGGGGAGAATGTGGTGTCTTGCTCCACCCTCCTGGCGAGGGGAGGGCCTGGCCTGGACCGCAGAGGAATCGAGTGACTGCCCCTAAAATCTCCTAGAACCGATCCCGCGGCCCCGCCCCTCCCGCGGCCCCGCCCCTCCCGCGGCCCGTCAGCCTCTGCCGCGGAGCTGCGTCCGCCACTCATGTTTCTCCGAGCAGGCCTGGCCGCGCTCTCCCCGCTTCTTCGCAGTCTTCGGCCCTCTCCTGTCGCCGCCATGAGCACTGGCACCTTCGTCGTGTCGCAGCCGCTCAATTACCGCGGCGGGGCCCGCGTGGAGCCGGCGGACGCCTCCGGTACCGAGAAAGCTTTCGAGCCAGCAACCG___GCCGAGTGATA)GCTACTTTCACATGTTCAGGAGAAAAGGAAGTAAATTTGGCTGTTCAAAATGCAAAGGCTGCTTTTAAAATATGGAGTCAAAAATCTGGCATGGAGCGTTGCCGAATCCTTTTGGAGGCTGCCAGGATAATAAGG|CATGAGGTAAAATGCCACCAAAATAATGTGCCAAGCTCTGGGCCAAGCTCTGGGTATACAAAAGCAATGAAGACACAGTCACCGATCTCAAAGAGCTCACAGTCTAGAGATG MFLRAGLAALSPLLRSLRPSPVAAMSTGTFVVSQPLNYRGGARVEPADASGTEKAFEPATGRVIATFTCSGEKEVNLAVQNAKAAFKIWSQKSGMERCRILLEAARIIR|hevkchqnnvpssgpssgytkamktqspiskssqsrd 01BR027 ENSG00000253729.8 ENSG00000153944.11 -/- +/- chr8:47912410 chr17:57327272 CDS/splice-site intron translocation/5'-5' 3 0 0 73 1 medium out-of-frame . . . . ENSG00000253729.8 ENSG00000153944.11 ENST00000314191.7 . upstream downstream . ^(ACTCGGCGGCATGGCGGGCTCCGGAGCCGGTGTGCGTTGCTCCCTGCTGCGGCTGCAGGAGACCTTGTCCGCTGCGGACCGCTGCGGTGCTGCCCTGGCCGGTCATCAACTGATCCGCGGCCTGGGGCAGGAATGCGTCCTGAGCAGCAGCCCCGCGGTGCTGG___CATTACAGACATCTTTAGTTTTTTCCAGAGATTTCGGTTTGCTTGTATTTGTCCGGAAGTCACTCAACAGTATTGAA___TTTCGTGAATGTAGAGAAGAAATCCTAAAGTTTTTATGTATTTTCTTAGAAAAAATGGGCCAGAAGATCGCACCTTACTCTGTTGAAATTAAG___AACACTTGTACCAGTGTTTATACAAAAGATAGAGCTGCTAAATGTAAAATTCCAGCCCTGGACCTTCTTATTAAG___TTACTTCAGACTTTTAGAAGTTCTAGACTCATGGATGAATTTAAAATTGGAGAATTATTTAGTAAATTCTATGGAGAACTTGCATTGAAAAAAAAAATACCAGATACAG___TTTTAGAAAAAGTATATGAGCTCCTAGGATTATTGGGTGAAGTTCATCCTAGTGAGATGATAAATAATGCAGAAAACCTGTTCCGCGCTTTTCTGGGTGAACTTAAGACCCAG___ATGACATCAGCAGTAAGAGAGCCCAAACTACCTGTTCTGGCAGGATGTCTGAAGGGGTTGTCCTCACTTCTGTGCAACTTCACTAAGTCCATGGAAGAAG___ATCCCCAGACTTCAAGGGAGATTTTTAATTTTGTACTAAAGGCAATTCGTCCTCAG___ATTGATCTGAAGAGATATGCTGTGCCCTCAG___CTGGCTTGCGCCTATTTGCCCTGCATGCATCTCAGTTTAGCACCTGCCTTCTGGACAACTACGTGTCTCTATTTGAAGTCTTGTTAAAGTGGTGTGCCCACACAAATGTAGAATTGAAAAAAGCTGCACTTTCAGCCCTGGAATCCTTTCTGAAACAG___GTTTCTAATATGGTGGCGAAAAATGCAGAAATGCATAAAAATAAACTGCAGTACTTTATGGAGCAGTTTTATGGAATCATCAGAAATGTGGATTCGAACAACAAGGAGTTATCTATTGCTATCCGTGGATATGGACTTTTTGCAGGA___CCGTGCAAGGTTATAAACGCAAAAGATGTTGACTTCATGTACGTTGAGCTCATTCAGCGCTGCAAGCAGATGTTCCTCACCCAGACAGACACTGGTGACGACCGTGTTTATCAGATGCCAAGCTTCCTCCAGTCTGTTGCAAGCGTCTTGCTGTACCTTGACACA___GTTCCTGAGGTGTATACTCCAGTTCTGGAGCACCTCGTGGTGATGCAGATAGACAGTTTCCCACAGTACAGTCCAAAAATGCAGCTGGTGTGTTGCAGAGCCATAGTGAAGGTGTTCCTAGCTTTGGCAGCAAAAGGGCCAGTTCTCAGGAATTGCATTAGTACTGTGG___TGCATCAGGGTTTAATCAGAATATGTTCTAAACCAGTGGTCCTTCCAAAG___GGCCCTGAGTCTGAATCTGAAGACCACCGTGCTTCAGGGGAAGTCAGAACTGGCAAATGGAAGGTGCCCACATACAAAGACTACGTGGATCTCTTCAGACATCTCCTGAGCTCTGACCAGATGATG___GATTCTATTTTAGCAGATGAAGCATTTTTCTCTGTGAATTCCTCCAGTGAAAGTCTGAATCATTTACTTTATGATGAATTTGTAAAATCCGTTTTGAAGATTGTTGAGAAATTGGATCTTACACTTGAAATACAGACTGTTGGGGAACAAGAG___AATGGAGATGAGGCGCCTGGTGTTTGGATGATCCCAACTTCAGATCCAGCGGCTAACTTGCATCCAGCTAAACCTAAAGATTTTTCGGCTTTCATTAACCTGGTGGAATTTTGCAG___AGAGATTCTCCCTGAGAAACAAGCAGAATTTTTTGAACCATGGGTGTACTCATTTTCATATGAATTAATTTTGCAATCTACAAGGTTGCCCCTCATCAGTGGTTTCTACAAATTGCTTTCTATTACAGTAAGAAATGCCAAGAAAATAAAATATTTCGAG___GGAGTTAGTCCAAAGAGTCTGAAACACTCTCCTGAAGACCCAGAAAAGTATTCTTGCTTTGCTTTATTTGTGAAATTTGGCAAAGAG___GTGGCAGTTAAAATGAAGCAGTACAAAGATGAACTTTTGGCCTCTTGTTTGACCTTTCTTCTGTCCTTGCCACACAACATCATTGAACTCGATGTTAGAGCCTACGTTCCTGCACTGCAG___ATGGCTTTCAAACTGGGCCTGAGCTATACCCCCTTGGCAGAAGTAGGCCTGAATGCTCTAGAAGAATGGTCAATTTATATTGACAGACATGTAATGCAGCCTTATTACAAAGACATTCTCCCCTGCCTGGATGGATACCTGAAGACTTCAGCCTTGTCAG___ATGAGACCAAGAATAACTGGGAAGTGTCAGCTCTTTCTCGGGCTGCCCAGAAAGGATTTAATAAAGTGGTGTTAAAGCATCTGAAGAAGACAAAGAACCTTTCATCA___AACGAAGCAATATCCTTAGAAGAAATAAGAATTAGAGTAGTACAAATGCTTGGATCTCTAGGAGGACAAATAAACAAAAATCTTCTGACAG___TCACGTCCTCAGATGAGATGATGAAGAGCTATGTGGCCTGGGACAGAGAGAAGCGGCTGAGCTTTGCAGTGCCCTTTAGAGAGATGAAACCTGTCATTTTCCTGGATGTGTTCCTGCCTCGAGTCACAGAATTAGCGCTCACAG)CCAGTGACAGACAAACTAAA___GTTGCAGCCTGTGAACTTTTACATAGCATGGTTATGTTTATGTTGGGCAAAGCCACGCAGATGCCAGAAGGGGGACAGGGAGCCCCACCCATGTACCAGCTCTATAAGCGGACGTTTCCTGTGCTGCTTCGACTTGCGTGTGATGTTGATCAG|AGATGGGGTGTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCATAGGTTGCTGCAACCTCAAACTCCTAGGTTCAAGTGATCCTCCTGCCTCAGCTTCCCAAGTTGCTTG MAGSGAGVRCSLLRLQETLSAADRCGAALAGHQLIRGLGQECVLSSSPAVLALQTSLVFSRDFGLLVFVRKSLNSIEFRECREEILKFLCIFLEKMGQKIAPYSVEIKNTCTSVYTKDRAAKCKIPALDLLIKLLQTFRSSRLMDEFKIGELFSKFYGELALKKKIPDTVLEKVYELLGLLGEVHPSEMINNAENLFRAFLGELKTQMTSAVREPKLPVLAGCLKGLSSLLCNFTKSMEEDPQTSREIFNFVLKAIRPQIDLKRYAVPSAGLRLFALHASQFSTCLLDNYVSLFEVLLKWCAHTNVELKKAALSALESFLKQVSNMVAKNAEMHKNKLQYFMEQFYGIIRNVDSNNKELSIAIRGYGLFAGPCKVINAKDVDFMYVELIQRCKQMFLTQTDTGDDRVYQMPSFLQSVASVLLYLDTVPEVYTPVLEHLVVMQIDSFPQYSPKMQLVCCRAIVKVFLALAAKGPVLRNCISTVVHQGLIRICSKPVVLPKGPESESEDHRASGEVRTGKWKVPTYKDYVDLFRHLLSSDQMMDSILADEAFFSVNSSSESLNHLLYDEFVKSVLKIVEKLDLTLEIQTVGEQENGDEAPGVWMIPTSDPAANLHPAKPKDFSAFINLVEFCREILPEKQAEFFEPWVYSFSYELILQSTRLPLISGFYKLLSITVRNAKKIKYFEGVSPKSLKHSPEDPEKYSCFALFVKFGKEVAVKMKQYKDELLASCLTFLLSLPHNIIELDVRAYVPALQMAFKLGLSYTPLAEVGLNALEEWSIYIDRHVMQPYYKDILPCLDGYLKTSALSDETKNNWEVSALSRAAQKGFNKVVLKHLKKTKNLSSNEAISLEEIRIRVVQMLGSLGGQINKNLLTVTSSDEMMKSYVAWDREKRLSFAVPFREMKPVIFLDVFLPRVTELALTASDRQTKVAACELLHSMVMFMLGKATQMPEGGQGAPPMYQLYKRTFPVLLRLACDVDQ|rwgvplsprlecsgtiigccnlkllgssdppasasqva 01BR027 ENSG00000047365.12 ENSG00000174145.8 -/- +/- chr4:36091881 chr4:37268025 CDS/splice-site intron duplication/5'-5' 2 0 0 14 0 medium out-of-frame . PH_domain(100%),Putative_GTPase_activating_protein_for_Arf(100%),Ras_association_(RalGDS/AF-6)_domain(100%),RhoGAP_domain(100%),SAM_domain_(Sterile_alpha_motif)(100%)| . . ENSG00000047365.12 ENSG00000174145.8 ENST00000303965.9 . upstream downstream . ^(GAGGAAGCGGCGGCCGAGGCGAGGCGCGGGAGCACCTGAGCAAGGCGCGGGCGCCGGGCTCGGCGTTTCCGGAGCTGAGCGCGGGTCCGCGGCCCGCGCTCCCCGCCTCCAGGTGCGGCGGCCGCGACACGCCGGCCCCACTAACAGCGCCGCCCGCGCGGCCGCCGCCAGGCAGCAGAGGCGACTGCGGACAGCCGGCGGGGACCGGGAAAGAGGAGGCCTGGCGCCTCCGGCAGAGGGGCGAGGACCGAGCGCCCAAGGCTGGGAGAGACGCCGGCGCTGAGCTTCCCAGCGCCGCCTCACCTCGCTTTTCGAACTCCGCGACCCGAGCGCAAG___GCTTAAGCAGGTAAAGCAGTCACTGTGAAGAAAATAACATTTTAAGAAACTTTTCTGTCACAATTGATAGAGGAAAAGCCAGTAGAGAAGTACATCTTCTTGTGTGTGTGTCTCATCGTGCCACTTTTTGTAACTCAGCTTAGTAATGAAGCCACCATTATGTCCTCAGTCAGTGAAGTAAATGTGGATATAAAAGATTTCCTAATGAGCATTAATTTGGAGCAGTATCTCTTACATTTCCATGAGTCTGGTTTTACTACTGTGAAGGACTGTGCAGCAATAAATGACAGCCTGCTGCAGAAAATTGGAATATCACCTACAGGTCACCGTAGGAGGATACTTAAACAGTTACAGATAATCTTGTCAAAAATGCAAGATATTCCAATATATGCAAATGTTCATAAAACTAAGAAGAATGATGACCCTTCAAAGGATTACCATGTTCCATCTTCTGATCAGAATATCTGCATAGAACTTTCCAATTCTGGTAGTGTTCAGACATCTAGCCCACCGCAGTTGGAGACTGTTAGAAAAAATCTTGAAGACAGTGATGCAAGTGTGGAAAGAAGCCAGTATCCTCAATCAGATGATAAGCTGTCTCCTCCTAAACGCGACTTCCCCACTGCAGAGGAACCACACCTGAATTTGGGTTCTTTGAATGATTCTTTATTTGGTAGTGACAATATTAAAATAGAATCATTGATTACAAAGAAGACTGTGGATCACACAGTTGAAGAACAACAAACAGAAAAAGTTAAATTGATCACAGAAAATCTCAGTAAGCTCCCTAATGCAGACTCTGAATGCCTTTCTTTTGTTGGCTGTTCAACATCAGGAACAAATTCTGGAAATGGAACAAATGGTTTATTAGAAGGATCACCACCATCCCCATTCTTTAAGTTTCAAGGAGAAATGATTGTAAATGACTTGTATGTTCCATCATCACCAATCCTAGCACCTGTGAGAAGTCGTAGCAAGTTGGTTTCAAGACCATCTCGATCTTTTCTGCTAAGACATCGACCTGTACCAGAGATTCCAGGGTCAACAAAAGGAGTTTCTGGGAG___CTATTTCCGTGAAAGAAGAAATGTTGCTACCTCAACTGAAAAATCTGTGGCATGGCAAA___ATTCAAATGAGGAGAATTCATCTTCCATCTTTCCTTATGGAGAGACCTTTCTCTTCCAGAGACTAGAAAATTCCAAG___AAGCGATCTATAAAGAATGAATTTTTGACCCAGGGAGAAGCACTCAAAGGGGAAGCAGCTACTGCAACAAACTCTTTTATCATCAAATCAAG___CATATACGATAACAGAAAGGAGAAAATAAGCGAGGACAAGGTGGAAGATATTTGGATACCTCGAGAGGACAAAAACAATTTTTTGATAGACACTGCTTCTGAATCAGAATACTCAACAGTAGAAGAATGCTTTCAGAGTTTAAGAAGAAAAAATTCAAAGGCATCTAAATCTAGGACTCAAAAAGCCTTGATTTTGGACTCCGTTAATAGGCACAGTTATCCGTTAAGCTCAACAAGTGGAAATGCTGATTCATCAGCCGTTTCTTCACAGGCAATATCTCCCTATGCCTGCTTTTATGGAGCATCTGCAAAGAAGGTTAAATCAGGATGGCTGGATAAACTCTCTCCTCAAGG___AAAACGCATGTTTCAAAAGAGATGGGTGAAATTTGATGGCCTTAGCATTTCTTACTACAATAATGAGAAG___GAGATGTATTCGAAAGGAATAATTCCCCTTTCTGCTATATCAACAGTACGAGTTCAAGGAGACAACAAATTTGAAGTTGTTACAACACAAAGAACTTTTGTTTTTAGAGTAGAAAAAGAAG___AGGAGAGAAATGACTGGATCAGCATACTATTAAATGCACTGAAATCACAATCCCTTACCTCGCAGTCTCAAGCTGTTGTTACACCTGAGAAATGTGGATATCTTGAATTGAGAGGCTATAAGGCAAAAATTTTTACTGTGTTAAGTGGAAACAGTGTGTGGCTTTGCAAAAACGAACAG___GATTTTAAGAGTGGACTTGGTATTACCATAATTCCTATGAATGTAGCAAATGTAAAGCAAGTGGACCGAACTGTGAAACAATCTTTTGAAATAATCACTCCCTACAGGAGTTTCAG___CTTTACAGCCGAGACTGAAAAGGAGAAACAAGACTGGATTGAAGCTGTGCAGCAATCAATAGCAGAAACTCTCTCTGATTATGAAGTAGCTGAGAAGATTTGGTTCAATGAATCCAACAGGAGCTGTGCAGATTGTAAAGCCCCAGATCCTGACTGGGCATCCATCAATCTCTGTGTTGTCATCTGTAAGAAGTGTGCAG___GACAGCATAGATCTTTAGGACCAAAAGATTCCAAGGTTAGAAGTCTAAAAATGGATGCTAGCATTTGGAGCAATGAACTCATCGAG___CTTTTTATTGTCATTGGAAACAAAAGAGCAAATGACTTTTGGGCTGGTAATCTTCAAAAGGATGAAGAATTACATATGGACTCACCAGTAGAAAAGAGAAAAAACTTTATTACTCAGAAATATAAAGAAGGAAAATTCAGAAAAACTCTTTTGGCATCTCTCACCAAAGAAGAATTAAATAAG___GCTCTATGTGCTGCTGTAGTGAAACCGGATGTTCTAGAAACAATGGCTTTGCTGTTCAGTGGAGCAGATGTCATGTGTGCCACCGGAGACCCCGTGCATAGCACCCCCTATCTGCTAGCCAAGAAAGCTGGGCAAAGTCTGCAAATGGAATTTCTCTACCATAACAAATTCTCAG___ATTTCCCTCAACATGATATTCATTCCGAGGGTGTATTAAGTCAAGAGTCTTCCCAGTCCACATTCCTCTGTGACTTTTTATATCAAGCTCCTTCTGCTGCTTCTAAACTCTCTTCAGAGAAAAAACTGCTTGAAG___AGACAAATAAAAAATGGTGTGTTTTGGAAGGAGGCTTCTTGAGTTACTATGAAAATGATAAGTCTACCACACCTAATGGCACCATTAATATCAATGAAGTTATCTGCCTGGCTATACACAAAGAGGACTTCTATTTAAATACTGG___GCCCATCTTTATCTTTGAGATCTACTTACCCTCCGAACGTGTGTTTTTATTTGGAGCTGAAACATCTCAAGCTCAAAGAAAATGGACAGAGGCAATAGCCAAG___CATTTTGTTCCCTTATTTGCTGAAAACTTAACAGAAGCTGACTATGATTTGATTGGTCAACTCTTCTACAAAGACTGCCATGCCCTGGATCAGTGGAGAAAAGGCTGGTTTGCTATGGACAAATCCAGCTTGCATTTTTGCCTTCAAATGCAAGAAGTTCAGGGAGATAGAATGCACTTAAGAAGACTGCAAGAGCTAA___CAATCAGCACAATGGTTCAAAATGGGGAAAAACTGGATGTTTTACTCTTGGTAGAAAAAGGGAG___AACATTATACATCCATGGGCATACCAAGTTGGATTTCACAGTCTGGCATACTGCAATTGAAAAAGCAGCAGGTACAGATGGTAATGCTTTACAAGATCAGCAGCTCAGCAAAAATGACGTTCCCATTATAGTGAACAGCTGTATAGCATTTGTTACACAGTATG___GTTTAGGATGCAAATATATCTATCAAAAGAATGGTGATCCTTTGCATATAAGTGAACTCCTGGAGAGTTTCAAAAAGGATGCAAGAAGCTTTAAATTGAGGGCTGGAAAACATCAGCTTGAAGATGTGACGGCTGTGTTGAAAAGTTTTCTCTCTGACATTGATGATGCACTGCTTACTAAGGAGCTCTACCCATATTGGATCTCTGCTTTAG___ATACGCAAGATGACAAGGAAAGAATTAAAAAATATGGAGCATTTATACGTTCTCTTCCAGGGGTCAACCGAGCAACACTAGCAGCTATCATTGAACACCTGTATAG___GGTTCAGAAATGCTCAGAAATCAATCACATGAATGCCCATAATTTGGCCTTGGTCTTTTCATCCTGTTTGTTTCAAACGAAGGGACAAACTAGTGAAGAAGTGAATGTAATTGAGGACCTAATTAATAATTATGTAGAAATATTTGAG___GTTAAAGAAGATCAAGTCAAACAAATGGACATAGAAAATAGCTTTATTACCAAGTGGAAAGACACCCAA___GTTTCCCAGGCTGGAGATTTGTTAATTGAAGTATATGTAGAAAGGAAGGAACCCGACTGTAGTATTATAATTCGG___ATATCTCCTGTGATGGAAGCAGAAGAATTAACTAATGATATATTAGCGATAAAAAATATTATTCCTACAAAAGGTGATATTTGGGCCACATTTGAAGTCATTGAAAATGAAGAGCTAG___AGCGTCCTCTTCACTACAAGGAAAATGTACTGGAGCAGGTGCTTCGGTGGAGTTCATTAGCTGAACCTGGCTCTGCTTACCTGGTGGTGAAGAGATT)CTTAACCGCTGACACAATTAAACACTGCAGTG___ACCGGAGTACACcGGGAAGCATCAAAGAAGGAATCTTGAAAATCAAAGAAGAACCATCCAAAATACTATCTGGAAATAAGTTTCAAGACCGGTATTTTGTTTTACGAGATGGGTTTCTCTTTCTTTACAAGGATGTGAAG|AGGATTCCTATAGGAAGCAAGACAAGCCACAGGAGCAGGGAAGAGTAATAC MSSVSEVNVDIKDFLMSINLEQYLLHFHESGFTTVKDCAAINDSLLQKIGISPTGHRRRILKQLQIILSKMQDIPIYANVHKTKKNDDPSKDYHVPSSDQNICIELSNSGSVQTSSPPQLETVRKNLEDSDASVERSQYPQSDDKLSPPKRDFPTAEEPHLNLGSLNDSLFGSDNIKIESLITKKTVDHTVEEQQTEKVKLITENLSKLPNADSECLSFVGCSTSGTNSGNGTNGLLEGSPPSPFFKFQGEMIVNDLYVPSSPILAPVRSRSKLVSRPSRSFLLRHRPVPEIPGSTKGVSGSYFRERRNVATSTEKSVAWQNSNEENSSSIFPYGETFLFQRLENSKKRSIKNEFLTQGEALKGEAATATNSFIIKSSIYDNRKEKISEDKVEDIWIPREDKNNFLIDTASESEYSTVEECFQSLRRKNSKASKSRTQKALILDSVNRHSYPLSSTSGNADSSAVSSQAISPYACFYGASAKKVKSGWLDKLSPQGKRMFQKRWVKFDGLSISYYNNEKEMYSKGIIPLSAISTVRVQGDNKFEVVTTQRTFVFRVEKEEERNDWISILLNALKSQSLTSQSQAVVTPEKCGYLELRGYKAKIFTVLSGNSVWLCKNEQDFKSGLGITIIPMNVANVKQVDRTVKQSFEIITPYRSFSFTAETEKEKQDWIEAVQQSIAETLSDYEVAEKIWFNESNRSCADCKAPDPDWASINLCVVICKKCAGQHRSLGPKDSKVRSLKMDASIWSNELIELFIVIGNKRANDFWAGNLQKDEELHMDSPVEKRKNFITQKYKEGKFRKTLLASLTKEELNKALCAAVVKPDVLETMALLFSGADVMCATGDPVHSTPYLLAKKAGQSLQMEFLYHNKFSDFPQHDIHSEGVLSQESSQSTFLCDFLYQAPSAASKLSSEKKLLEETNKKWCVLEGGFLSYYENDKSTTPNGTININEVICLAIHKEDFYLNTGPIFIFEIYLPSERVFLFGAETSQAQRKWTEAIAKHFVPLFAENLTEADYDLIGQLFYKDCHALDQWRKGWFAMDKSSLHFCLQMQEVQGDRMHLRRLQELTISTMVQNGEKLDVLLLVEKGRTLYIHGHTKLDFTVWHTAIEKAAGTDGNALQDQQLSKNDVPIIVNSCIAFVTQYGLGCKYIYQKNGDPLHISELLESFKKDARSFKLRAGKHQLEDVTAVLKSFLSDIDDALLTKELYPYWISALDTQDDKERIKKYGAFIRSLPGVNRATLAAIIEHLYRVQKCSEINHMNAHNLALVFSSCLFQTKGQTSEEVNVIEDLINNYVEIFEVKEDQVKQMDIENSFITKWKDTQVSQAGDLLIEVYVERKEPDCSIIIRISPVMEAEELTNDILAIKNIIPTKGDIWATFEVIENEELERPLHYKENVLEQVLRWSSLAEPGSAYLVVKRFLTADTIKHCSDRSTpGSIKEGILKIKEEPSKILSGNKFQDRYFVLRDGFLFLYKDVK|ripigsktshrsree* 01BR027 ENSG00000081985.12 ENSG00000186094.17 +/+ -/- chr1:67338703 chr1:48902008 CDS/splice-site intron inversion 1 1 0 57 0 medium in-frame . Ig-like_C2-type_domain(100%)|Zinc_carboxypeptidase(100%) . . ENSG00000081985.12 ENSG00000186094.17 ENST00000262345.5 ENST00000371836.1 downstream downstream . ^(TGCAGAGCACAGAGAAAGGACATCTGCGAGGAAAGTTCCCTGATGGCTGTCAACAAAGTGCCACGTCTCTATGGCTGTGAACGCTGAGCACACGATTTTATCGCGCCTATCATATCTTGGTGCATAAACGCACCTCACCTCGGTCAACCCTTGCTCCGTCTTATGAGACAGGCTTTATTATCCGCATTTTATATGAGGGGAAACTGACGGTGGAGAGAGAATTATCTTGCTCAAGGCGACACAGCAGAGCCCACAGGTGGCAGAATCCCACCCGAGCCCGCTTCGACCCGCGGGGTGGAAACCACGGGCGCCCGCCCGGCTGCGCTTCCAGAGCTGAACTGAGAAGCGAGTCCTCTCCGCCCTGCGGCCACCGCCCAGCCCCGACCCCCGCCCCGGCCCGATCCTCACTCGCCGCCAGCTCCCCGCGCCCACCCCGGAGTTGGTGGCGCAGAGGCGGGAGGCGGAGGCGGGAGGGCGGGCGCTGGCACCGGGAACGCCCGAGCGCCGGCAGAGAGCGCGGAGAGCGCGACACGTGCGGCCCAGAGCACCGGGGCCACCCGGTCCCCGCAGGCCCGGGACCGCGCCCGCTGGCAGGCGACACGTG___GAAGAATACGGAGTTCTATACCAGAGTTGATTGTTGATGGCACATACTTTTAGAGGATGCTCATTGGCATTTATGTTTATAATCACGTGGCTGTTGATTAAAGCAAAAATAG___ATGCGTGCAAGAGAGGCGATGTGACTGTGAAGCCTTCCCATGTAATTTTACTTGGATCCACTGTCAATATTACATGCTCTTTGAAGCCCAGACAAGGCTGCTTTCACTATTCCAGACGTAACAAGTTAATCCTGTACAAGTTTGACAGAAGAATCAATTTTCACCATGGCCACTCCCTCAATTCTCAAGTCACAGGTCTTCCCCTTGGTACAACCTTGTTTGTCTGCAAACTGGCCTGTATCAATAGTGATGAAATTCAAATATGTGGAGCAGAGATCTTCGTTGGTG___TTGCTCCAGAACAGCCTCAAAATTTATCCTGCATACAGAAGGGAGAACAGGGGACTGTGGCCTGCACCTGGGAAAGAGGACGAGACACCCACTTATACACTGAGTATACTCTACA___GCTAAGTGGACCAAAAAATTTAACCTGGCAGAAGCAATGTAAAGACATTTATTGTGACTATTTGGACTTTGGAATCAACCTCACCCCTGAATCACCTGAATCCAATTTCACAGCCAAGGTTACTGCTGTCAATAGTCTTGGAAGCTCCTCTTCACTTCCATCCACATTCACATTCTTGGACATAG___TGAGGCCTCTTCCTCCGTGGGACATTAGAATCAAATTTCAAAAGGCTTCTGTGAGCAGATGTACCCTTTATTGGAGAGATGAGGGACTGGTACTGCTTAATCGACTCAGATATCGGCCCAGTAACAGCAGGCTCTGGAATATG___GTTAATGTTACAAAGGCCAAAGGAAGACATGATTTGCTGGATCTGAAACCATTTACAGAATATGAATTTCAGATTTCCTCTAAGCTACATCTTTATAAGGGAAGTTGGAGTGATTGGAGTGAATCATTGAGAGCACAAACACCAGAAGAAG___AGCCTACTGGGATGTTAGATGTCT)GGTACATGAAACGGCACATTGACTACAGTAGACAACAGATTTCTCTTTTCTGGAAG|GCTCTCGTCTCTTGTCTGCTGCCATGTAAGACGTGCCCTTCACCTTCCGCCATGATTGTGAGGCCTCCCCAGCCATGTGGAACT___CAACAACGAAAGCTTGACCTCCTGACGATAACCAGCCCTG___CTGGAAGATGGAGCTGGTGAAATCATTTGCTTCTGAAGGAGAATGGTG(GCCTTTCCAAATTTGACTATCAGATATGAATTTGACCTAATCTCGGGAATGTTTCCGGCTGGAAGATGGAGCTGGTGAAATCATTTGCTTCTGAAGGAGAATGGTGGCCTTTCCAAATTTGACTATCAGATATGAATTTGACCTAATCTCGGGAATGTTTCCGGTAAGACTGCAGACTCTCAGGTGCTTAAGAAGTCACTGAGGCTCTGGACAAACAGGAACGTATTAGCTTTTTGCCTACTGACTACACAGCCTCCACCATTCACCCAAAATGGATCTGCATCTCCCAGGTGCATCTGCAAGCACACAAAAACACACACTGGGAAGGGGTATGAGCTGAGGTTAGTCCTAGGTGCTGCACTTTCTATTCCTGACATATCAGGATGTGTGGGAGGGAGGCCAAAGCTGCAGCACCAGGCTGGGCTTCCAGTCCTGTTGCTACTGTGGAAGCTGGCTCCAGACAGGTGGGGGCAGCAAAGAGCCAGCCTGTATGGTCAGCTGGGATTCTAGTTGACCAAAGCTGTTGGGAGAACTCAAGCTCATCAGTGTGGCAAGTTAGACAACTTGATCTGGACACATGCATAAATGGAACAGGGGTCCAGATACCCACAGGATTAATACTAATAAACCATTTTGCTTAAGCAGCAAAACTCGGTTTATATATTGAA)$ MAHTFRGCSLAFMFIITWLLIKAKIDACKRGDVTVKPSHVILLGSTVNITCSLKPRQGCFHYSRRNKLILYKFDRRINFHHGHSLNSQVTGLPLGTTLFVCKLACINSDEIQICGAEIFVGVAPEQPQNLSCIQKGEQGTVACTWERGRDTHLYTEYTLQLSGPKNLTWQKQCKDIYCDYLDFGINLTPESPESNFTAKVTAVNSLGSSSSLPSTFTFLDIVRPLPPWDIRIKFQKASVSRCTLYWRDEGLVLLNRLRYRPSNSRLWNMVNVTKAKGRHDLLDLKPFTEYEFQISSKLHLYKGSWSDWSESLRAQTPEEEPTGMLDVWYMKRHIDYSRQQISLFWK|alvscllpcktcpspsamivrppqpcgtQQRKLDLLTITSPAGRWSW* 01BR027 ENSG00000075415.13 ENSG00000120802.13 +/+ +/+ chr12:98594135 chr12:98544230 CDS/splice-site CDS/splice-site duplication 1 1 0 286 194 medium out-of-frame . . . . ENSG00000075415.13 ENSG00000120802.13 ENST00000401722.7 ENST00000556029.5 downstream upstream . ^(ACCAATGGGCGACGCGTACTTGCAGTGGCGCGCTGTGTGCGTCACGCCGACGACGCGCGAAGGGCACACATCTTAGGACCCGGAGGACGTCCGGCCTCTGTGAGCCGCAACCTTTCCAAGGGAGTGGTTGTGTGATCGCCATCTTAGGGA___ATGTTCTCGTCCGTGGCGCACCTGGCGCGGGCGAACCCCTTCAACACGCCACATCTGCAGCTGGTGCAC)GATGGTCTCGGGGACCTCCGCAGCAGCTCCCCAGGGCCCACGGGCCAGCCCCGCCGCCCTCGCAACCTGGCAGCCGCCGCCGTGGAAG|AGCTATTCTCAAGCTGGAATAACTGAGACTGAATGGACAAGTGGATCTTCAAAAGGCGGACCTCTGCAGGCATTAACTAGGGAATCTACAAGAGGGTCAAGAAGAACTCC(AAGGAAAAGG___GTGGAAACTTCAGAACATTTTCGTATAGATGGTCCAGTAATTTCAGAGAGTACTCCCATAGCTGAAACTATAATGGCTTCAAGCAACGAATCCTTA___GTTGTCAATAGGGTGACTGGAAATTTCAAGCATGCATCTCCTATTCTGCCAATCACTGAATTCTCAGACATACCCAGAAGAGCACCAAAGAAACCATTGACAAGAGCTGAA___GTGGGAGAAAAAACAGAGGAAAGAAGAGTAGAAAGGGATATTCTTAAGGAAATGTTCCCCTATGAAGCATCTACACCAACAGGAATTAG___TGCTAGTTGCCGCAGACCAATCAAAGGGGCTGCAGGCCGGCCATTAGAACTCAGTGATTTCAGGATGGAGGAGTCTTTTTCATCTAAATATGTTCCTAAGTATGTTCCCTTGGCAGATGTCAAGTCAGAAAAGACAAAAAAGGGACGCTCCATTCCCGTATGGATAAAAATTTTGCTGTTTGTTGTTGTGGCAGTTTTTTTGTTTTTGGTCTATCAAGCTATGGAAACCAACCAAGTAAATCCCTTCTCTAATTTTCTTCATGTTGACCCTAGAAAATCCAACTGAATGGTATCTCTTTGGCACGTTCAACTTGGTCTCCTATTTTCAATAACTGTTGAAAAACATTTGTGTACACTTGTTGACTCCAAGAACTAAAAATAATGTGATTTCGCCTCAATAAATGTAGTATTTCATTGAAAAGCAAACAAAATATATATAAATGGACTTCATTAAAATGTTTTTGAACTTTGGACTAGTAGGAGATCACTTTGTGCCATATGAATAATCTTTTTTAGCTCTGGAACTTTTTGTAGGCTTTATTTTTTTAATGTGGGCATCTTATTTCATTTTTGAAAAAATGTATATGTTTTTTGTGTATTTGGGAAACGAAGGGTGAAACATGGTAGTATAATGTGAAGCTACACATTTAAATACTTAGAATTCTTACAGAAAAGATTTTAAGAATTATTCTCTGCTGAATAAAAACTGCAAATATGTGAAACATAATGAAATTCAGTAAGAGGAAAAGTAACTTGGTTGTACTTTTTGTAACTGCAACAAAGTTTGATGGTGTTTATGAGGAAAAGTACAGCAATAATCTCTTCTGTAACCTTTATTAATAGTAATGTTGTTGTAGCCCTATCATACTCACTTTTTAAGACACAGTATCATGAAAGTCCTATTTCAGTAAGACCCATTTACATACAGTAGATTTTTAGCAGAGATCTTTTAGTGTAACATACATATTTTAGAGAATTGTTGGCTAGCTGTACATGTTTTGAAAAGCTGTTTAGCTAGCTATAAGGCTATAATTGGAAATTTGTATTTTTTATTTACAGCAAAACATTTATTCAGTCATCCAGTTTGCTACCAAAATATGTTTTAGATAAGTGTGTGTATGTTTGTTTAGAAGTTAGAAATTGTAAACACTGGTCTTATGTTTCATTTGGATTCATTATTGCATTGTCTTGTTACCAGAAACAAATTTTGCCGAGCTTTTTTTGCCCTATATTTCCCAGCATAATTTGATTAGAAAGTACAAAAAGGGCCAGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGCGGGTGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGATGATGTGCGCCTGTAGTCCTGTCTACTAGGGAGACTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAGAGATTACGTCACTGCACTGTAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAATAAAAAAGTACAAAAAGTACTTGCTTTTATATTACATCATAAGCAGTAGTTAATAAAGTTGTATACTCTTAAGAGGTGGGCATTATGATTATTTTTTATTTTTTTATTTTTTATGAGATGGAGTCTCACTCTTGTCACCCAGACTGTAGTGCAGTGGCACGATCTGGGCTCGATGCAACCTCTGCCTCCCAGGTTCAAGCAATTTTCCTGCCTCGGCAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAAGTGATCAGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGATCCACTGCACCCGGCCGGCATTATGATTTTGTGTACTCTTGAAATGGTTATCTTTGTGGATGATTTTTTTTTTTAAGCTGAAACTTACCTCATGAATAACTTGATTAAAGTAGTAGGTGATTAAAATTTCAATAGAATCAAATGAGACAAAAATTTTAAACTGACTCATTTGAGTTTCAACTTTACAGTCATTGACCATAAAGCACACTAAAAATGTAAGTTATTTTTAAATACATCTGAAATAAAAATACTTACTAAAAAGGAAGAAGCCGAAGATGTATATTTAGACCAGCACACAATTTTGATTTCAATTAGCCTTATTCTAATATTTAGCTTTTAGATCTTTCATACACATTTTCACGTACTTTGCAATTGAGACCAGAAAGACTTGTAGGTCTTTCTGCAGAATGAGTGGGTCCTTGCAAAGTGAGTGGGAAACTTACTCCTAGATCAGAAATGTTTGCCTCTCTGAGTAAAATGTTTCTTTCAGATGAGCCATAGAGGGGGCACCTTTTACTCAACTTTTCTTTGTTTTGAAACTTTGTTTCCCATACTGTTTTCAGCCTTTTGTTTATAATTAGAAATTGTGAGAAGCTTCATTTAGTGTTTAAAAATGTGGGGAGATAAATCAGACTTAACATGTATGTAAGATCAATTCACTTAAAAGTATGGTCCAAATAGCAAAAATAGGACCAGGTGAAACATGTAGTCATTTTTTAAAAACATGTACTTGGTCTTTTGTGTGTGTCTGTTTTATTCCATTAGAATAAATGTGTCCTTGATGTAAATGCAAAGCATTTCTTCCTGATTAAATTGTAGATGTAGACTTTACAATATAATTCAATAATAAAAAGTAATTAACCTCTAGTTTTGTCGTTGCAATAAATGGTTTTCAGATAGCACAAACTGTGATTTCTGGATAACATTTCTTATG)$ MFSSVAHLARANPFNTPHLQLVHDGLGDLRSSSPGPTGQPRRPRNLAAAAVE|elfsswnn* 01BR027 ENSG00000182718.17 ENSG00000128915.12 -/- -/- chr15:60382342 chr15:60431984 CDS/splice-site CDS/splice-site duplication 1 0 1 3485 45 medium out-of-frame . Annexin(100%)| . . ENSG00000182718.17 ENSG00000128915.12 ENST00000451270.7 ENST00000261520.9 upstream downstream . ^(GCTCAGCATTTGGGGACGCT)CTCAGCTCTCGGCGCACGGCCCAG___CTTCCTTCAAAATGTCTACTGTTCACGAAATCCTGTGCAAGCTCAGCTTGGAGGGTGAT___CACTCTACACCCCCAAGTGCATATGGGTCTGTCAAAGCCTATACTAACTTTGATGCTGAGCGGGATGCTTTGAACATTGAAACAGCCATCAAGACCAAAG|GATTTCCAATTTATTTAACATCCTCCAACACATTCTAAAGAAACTAAGTAG___ATTGGTGGAACGAG(AATGCCTACACGCAGCCACAGGAATCCAGTTTCCATGGAAACCAAAAGCAGTTGCTTGCCTGCTCAGCAAGTTGAAACTGAAGGAGTGGCTCCACATAAAAGAAAAATAACTTGAGGACTGTACCATGGAAAACTAAATTTAAAAAAACAGTTATAACAGTGTTTAATTTAGATAAGTTTGAGGGAAAATAATCAGTAGGCAAGAGGAACATTTTTCCTGTAGTAGCTAGAGTGCCTTGAAAAAATGTGTTGGCTATGTGAAGGAATATTTCAACTAAAATGGAATGGTATGCTTTTCACCCTTGAAGTTTGAGGAGGATCTTGATATGTTTTAACATTATCATGGCAGGGAAATATATAAAGAAGAAAAATATTTTTACATTAAACCTTTTCTAAAAATTGTAAATAGAAAAATAATTTGGTTTTTTATCAAGAACAACACTTATCGTTATGTATTGTGTTAGTTATATTGCCAGTCTGTTGCGACTGACTCAAAAAGTTAAATGTTGCCACTGCTGAAGATGATTATGAGCATCGCAAACTTTGTTTCTGACCCATTTTGACAGTTTTTATATACTCCTTTAAAATGATGAATGTTACAGGTTAATAAAGTTAATACCTTTAAAAACTTGGTGAAATTCCATTACAGAAGCCAAAAATAAAAACTCCCTGCCTCTGAAAAGTCAGATTACTGACTTCTTGTTTGGCAACCATCAGTTTGTTTAATAAAAGAAAAAATTTGGTGGTATAACATGTTTGATGACAGATGCCTCTATCTCTAGATTCAAGCTGAGTGTTGAAATACACTGCTGAAAGCAAAGAGATAGGTATGTTTTCCAGAAAAAAAGTCAGTGTCATTGCTCCAGATGACAAGGTTAATGTGGTAAAGCATAAGCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACCACAACATCCACCTCCTGGATTAAAGCGATTCTCCTGCCTCATCCTCCCGAGTAGCTGGGACTACAGGCACCTACCACCAGGCTTGGCTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTGTTACCATGTTGGCCGGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGGTAAGCCACCGTGCCTGGCCAGCATAAGCTATTTTTATCCTCATCTATACTGATTGATTTAAATTTTCCGGGCCTGCAGATGAATTTGGAAAAGGGCATAATCAACTGATGTTGCTGTAGCAAATTTGGACTTAAGAAACTACAGACAGGGCCGGGCGTGGTGGCTCACACCTGTAATTCCAGCACTTCGCAAGGCCGAGGCGGGAGAATCACTTGAGTCCAGGGGTTGGAGACCAGTCTGGGCAACACAGACCTCATCTCTACAAATAAAAAAGTTAGCCGGGTGTGGTGGGGTGTGCCTGTAGTCCCAGCTACTCAAAAGGCTGAGGCAGAAGAATTGCTTGAGCCCAAGAAGTCAAGGCTACAGTGAGTTGTGATCGCACCACAGAACTCAGCTTGAGTATCAGAGTGTGACCCTGTCTCAAAGAAAAAAAAAAACAGGACAGGCTTGTTTAATCTTTAGAACCCTTACACTAAAATTTTCAGAAATTATGTATGTCATTTGTAAAATATAAGTTTTGTAATCCTAGATAATTGCTTCACATTGAAATTTTTTAGCTATTCTGTGTAAAGAATAGCTATTCTTTTGGCCTAATTTCTGAGAAATTAGACCGAAAAATCTCCTCAAGTATTGTAACAGTTGAAAATACTTATATTCAACTACCAAGTTTTGTTTCATTTTGATTTTTTGTTATAAAACATTTTTAAGTTATTTGAGAAGTAATTATTAGTAAAATTGTATCTTGATAAATCATTTCCTCATCCTGCCATTCCCTTTTATAAAACACTGAGTTTTTTTATTCCTTAAGTCACATATCCCAGAAATGTTTTGGTTGTGAATCATTTGCCAGCGAGCCAAGGGAGAGGCAGGGATTCCCTTGAAATGTACTCTTACACTTTTTTATTTTATTTTTAATGTACATTTGTGTGCACCAGAATGGAATGTGCTCTTTTTAAAGAGCTGGACAGTGGTTGCTTCAGACTTCTGAATACCAGAAAGACTTGCCTTTTAATTTTTAAATATTACTTTTTACATCATAAAATGTGTTATCTTATCCATGTATTTGAATAACATCATATATAAAGGTAGTTTTTTGCTTGTGCTTAGTGAAGCCTCCTTTTTTAACATACATTTGATATGCTTTATGTTCTTTTTCTTGATTTTTAGTACTGAGAATTTATAAGCCAAGAAGTAACTGACAATATGTTTAGCAGGATGTAATCCCAGCTACTTGGGAAGCTGAGGTGGGAGGATCGCTTGAGTCTAGGAGTTTGAGGCTGCAGTGAGCTATGATGGTGCCACTGCACTCCATCCTGGGTGAGAGATCAAGACCCTATCTCAAAAAATGAGCAAGTTTTTTTTTTTTTTTTAAATCAGACTTAGGGCTAGCAAGGATGTGATCACCCTGGCCCATTTATACCTCAGCAGTGAAGGTGTAATTTATACACACCTCTTTGAAAACAGTTTAATTCAGTAAGTGAGTGCAACTATGTGCCATGCACTCCAAAGTAGGTCCCCACAGTTATTCTCTCATAGCCTTGTTTTTTCAGATCTCACCATATTTATTTGTTTCTTTGATTTTCTTTTCTTATAGATTACAAGCTCTGCAAGGACAGGGGCATATTTGTTTTGTTCACCATTAAGTAATAAACACCTAATACAGTGCCTGTCATGTAGTTGCTTAGCAGATATTAGTTAGATGCATGAATGTGTAGGTATCAAAGATTTTTTTTTTCAGGAGATCACATTCTAGTGGAAGACACTATACTGCTTTATGTGATAAGTGCTTTGATAAAGTAAGCAAGTCATCTAACCAGATCTTGGTAGTTAAGGTTTTCTGAGATAGAACTTGAGCTGAGTCTTTTAAAAATAGTAGGATTTATAAGGGAAAATTAAAGGTCTTCCACAAAGAAACTAAGTGAAACTAAGCAGCCTATGAAAAGGTGAAAGTTGGAGAGATTATAGGCTATGAACATGGGAGATGAGAGAGAAAACTGCAGGATAGGGACAGAAACACTGTGCTAAGACATTTGAACTTTGTCCTGTGCAATGTGGGAACCAGTAGTGAAGGTTAATTAACTGACATGATCAGATATGTATTTGAAAAGGGCTCTTGTTGGCATTAGTCTAGAGAATGCGATGGAGCTGGGAAGCGAAAGAAGAAATGTTGGGAGCCTGTGTTGTAGTAACTGAAAAATGGCAATGGCCCAGAATTAAAGCAGCAAGAATAGGAGTGGGCTCAAGTGATGTATAAGGAAAAAAAAAAAAATGACAACTCAGTTTTGTTGTTGGTAAGGAGAGTAAAGTATGGCTTCTGGGTTTCTCATTTGAGATACTGAGTAAATGATGGTGTTAACCCATTGAGAAAATAGTGTGGTTAGAGTGGGAAGAAAGTTAATTTAAAATGTTCATTTTTTTTTTTAGTCATTTCTACTTTTGGATTCTAGGTTTGTGTGCTATATTGGTTATAACCAATTTGCTGAATAATAAATTATCCCAAAACTTAGCTACTTAAAACAACAAACATTATCTCACAGTTTCTGTAAGTCAAAAGTCCAGGTCTCTCATGAAGTTGCAGTCAGGCTCTTGGCTAGGGCTGCAGTCATCTGAAGGATTAGTAAGTCGCTAAGCCCACACTTAAGCTCCACCCTTGAAGGGAGAAGTTTGGAAAGAATTTGTGAACATATTTTTAAATCACATATGCTATGAACAGGTTTAGGGGAGGGAGAGGAAAGAAAACTTTAACTTTTCATTAGCATACTGCATCTGTAGTTCCTAATGGGCATGTTGTAAAGATGTTAAGACGTTTTCTATGCATTATAGGTATATAGTAGTATTTTGTTTTGTTCTGTTTTTTTGTTTGGTATGTAGTAGTTTTTAATCAAACCTTAACGTATTTGATATTAAGATTTATTGAGTTTCTTGTTGAGATGTAGAAATAAAGGGGATCCATTTCATTTATCCA)$ MSTVHEILCKLSLEGDHSTPPSAYGSVKAYTNFDAERDALNIETAIKTK|gfpiyltssntf* 01BR030 ENSG00000091831.23 ENSG00000183150.8 +/+ -/- chr6:151944508 chr12:12695511 CDS/splice-site 5'UTR/splice-site translocation 5 42 4 551 163 high out-of-frame . Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Oestrogen_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%)|7_transmembrane_receptor_(rhodopsin_family)(100%) . . ENSG00000091831.23 ENSG00000183150.8 ENST00000440973.5 ENST00000651487.1 downstream downstream duplicates(3),mismatches(1) ^(ATGGTCATAACAGCCTCCTGTCTACCGACTCAGAACGGATTTTACCAAAACTGAAAATGCAGGCTCCATGCTCAGAAGCTCTTTAACAGGCTCGAAAGGTCCATGCTCCTTTCTCCTGCCCATTCTATAGCATAAGAAGACAGTCTCTGAGTGATAATCTTCTCTTCAA___GAAGAAGAAAACTAGGAAGGAGTAAGCACAAAGATCTCTTCACATTCTCCGGGACTGCGGTACCAAATATCAGCACAGCACTTCTTGAAAAAGGATGTAGATTTTAATCTGAACTTTGAACCATCACTGAG___GTGGCCCGCCGGTTTCTGAGCCTTCTGCCCTGCGGGGACACGGTCTGCACCCTGCCCGCGGCCACGGACCATGACCATGACCCTCCACACCAAAGCATCTGGGATGGCCCTACTGCATCAGATCCAAGGGAACGAGCTGGAGCCCCTGAACCGTCCGCAGCTCAAGATCCCCCTGGAGCGGCCCCTGGGCGAGGTGTACCTGGACAGCAGCAAGCCCGCCGTGTACAACTACCCCGAGGGCGCCGCCTACGAGTTCAACGCCGCGGCCGCCGCCAACGCGCAGGTCTACGGTCAGACCGGCCTCCCCTACGGCCCCGGGTCTGAGGCTGCGGCGTTCGGCTCCAACGGCCTGGGGGGTTTCCCCCCACTCAACAGCGTGTCTCCGAGCCCGCTGATGCTACTGCACCCGCCGCCGCAGCTGTCGCCTTTCCTGCAGCCCCACGGCCAGCAGGTGCCCTACTACCTGGAGAACGAGCCCAGCGGCTACACGGTGCGCGAGGCCGGCCCGCCGGCATTCTACAG___GCCAAATTCAGATAATCGACGCCAGGGTGGCAGAGAAAGATTGGCCAGTACCAATGACAAGGGAAGTATGGCTATGGAATCTGCCAAGGAGACTCGCTACTGTGCAGTGTGCAATGACTATGCTTCAGGCTACCATTATGGAGTCTGGTCCTGTGAGGGCTGCAAGGCCTTCTTCAAGAGAAGTATTCAAG___GACATAACGACTATATGTGTCCAGCCACCAACCAGTGCACCATTGATAAAAACAGGAGGAAGAGCTGCCAGGCCTGCCGGCTCCGTAAATGCTACGAAGTGGGAATGATGAAAGGTG___GGATACGAAAAGACCGAAGAGGAGGGAGAATGTTGAAACACAAGCGCCAGAGAGATGATGGGGAGGGCAGGGGTGAA)GTGGGGTCTGCTGGAGACATGAGAGCTGCCAACCTTTGGCCAAGCCCGCTCATGATCAAACGCTCTAAGAAGAACAGCCTGGCCTTGTCCCTGACGGCCGACCAGATGGTCAGTGCCTTGTTGGATGCTGAGCCCCCcATACTCTATTCCGAGTATGATCCTACCAGACCCTTCAGTGAAGCTTCGATGATGGGCTTACTGACCAACCTGGCAGACAGGGAGCTGGTTCACATGATCAACTGGGCGAAGAGGGTGCCAG|GATATATGGGACACCTGCACCGGCATTGGATTTGGCCCCGCAACATCTTAAAG___GAAGCAGGCTGTGAGCCAAGGGGAAGGCAGAGGACAGAAATGAATGTGTTTCCAGGCTTTCCTGGTGGTTTATGGCATTCTCCAAACTCCTATGCAAGGGCTATTCCTGACCAAGAAGATCTAAAGAGAACGTCTCTGAAATCAAGTCCGGATGAAG___AATTAAGAGAAAAAAAGTGAATATGGTTTTTGCTCACAGAATGGATAACAGCAAGCCACATTTGATTATTCCTACACTTCTGGTGCCCCTCCAAAACCGCAGCTGCACTGAAACAGCCACACCTCTGCCAAGCCAATACCTGATGGAATTAAGTGAGGAGCACAGTTGGATGAGCAACCAAACAGACCTTCACTATGTGCTGAAACCCGGGGAAGTGGCCACAGCCA(GCATCTTCTTTGGGATTCTGTGGTTGTTTTCTATCTTCGGCAATTCCCTGGTTTGTTTGGTCATCCATAGGAGTAGGAGGACTCAGTCTACCACCAACTACTTTGTGGTCTCCATGGCATGTGCTGACCTTCTCATCAGCGTTGCCAGCACGCCTTTCGTCCTGCTCCAGTTCACCACTGGAAGGTGGACGCTGGGTAGTGCAACGTGCAAGGTTGTGCGATATTTTCAATATCTCACTCCAGGTGTCCAGATCTACGTTCTCCTCTCCATCTGCATAGACCGGTTCTACACCATCGTCTATCCTCTGAGCTTCAAGGTGTCCAGAGAAAAAGCCAAGAAAATGATTGCGGCATCGTGGGTCTTTGATGCAGGCTTTGTGACCCCTGTGCTCTTTTTCTATGGCTCCAACTGGGACAGTCATTGTAACTATTTCCTCCCCTCCTCTTGGGAAGGCACTGCCTACACTGTCATCCACTTCTTGGTGGGCTTTGTGATTCCATCTGTCCTCATAATTTTATTTTACCAAAAGGTCATAAAATATATTTGGAGAATAGGCACAGATGGCCGAACGGTGAGGAGGACAATGAACATTGTCCCTCGGACAAAAGTGAAAACTATCAAGATGTTCCTCATTTTAAATCTGTTGTTTTTGCTCTCCTGGCTGCCTTTTCATGTAGCTCAGCTATGGCACCCCCATGAACAAGACTATAAGAAAAGTTCCCTTGTTTTCACAGCTATCACATGGATATCCTTTAGTTCTTCAGCCTCTAAACCTACTCTGTATTCAATTTATAATGCCAATTTTCGGAGAGGGATGAAAGAGACTTTTTGCATGTCCTCTATGAAATGTTACCGAAGCAATGCCTATACTATCACAACAAGTTCAAGGATGGCCAAAAAAAACTACGTTGGCATTTCAGAAATCCCTTCCATGGCCAAAACTATTACCAAAGACTCGATCTATGACTCATTTGACAGAGAAGCCAAGGAAAAAAAGCTTGCTTGGCCCATTAACTCAAATCCACCAAATACTTTTGTCTAAGTTCTCATTCTTTCAATTGTTATGCACCAGAGATTAAAAAGCTTTAACTATAAAAACAGAAGCTATTTACATATTTGTTTTCACTCAACTTTCCAAGGGAAATGTTTTATTTTGTAAAATGCATTCATTTGTTTACTGTAGTTTTTGTGGGTTTTATTTTACTTGCTTTTTATGTTTTAGGAAAAGCGTTCACTTTGAACTTTAGCCAACAGTCCTTTTACTATTAATATATTAGTTACATGCATAAAAAAGAAAATGCTTTCTTACTATTTACTGTTGGTTCAAAAACATAAACCTAAGCCATACACACA)$ MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVP|gymghlhrhwiwprnilkeagceprgrqrtemnvfpgfpgglwhspnsyaraipdqedlkrtslksspdeelrekk* 01BR030 ENSG00000091831.23 ENSG00000183150.8 +/+ -/- chr6:151944508 chr12:12662470 CDS/splice-site 5'UTR/splice-site translocation 6 5 1 551 505 high out-of-frame . Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Oestrogen_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%)|7_transmembrane_receptor_(rhodopsin_family)(100%) . . ENSG00000091831.23 ENSG00000183150.8 ENST00000440973.5 ENST00000651487.1 downstream downstream . ^(ATGGTCATAACAGCCTCCTGTCTACCGACTCAGAACGGATTTTACCAAAACTGAAAATGCAGGCTCCATGCTCAGAAGCTCTTTAACAGGCTCGAAAGGTCCATGCTCCTTTCTCCTGCCCATTCTATAGCATAAGAAGACAGTCTCTGAGTGATAATCTTCTCTTCAA___GAAGAAGAAAACTAGGAAGGAGTAAGCACAAAGATCTCTTCACATTCTCCGGGACTGCGGTACCAAATATCAGCACAGCACTTCTTGAAAAAGGATGTAGATTTTAATCTGAACTTTGAACCATCACTGAG___GTGGCCCGCCGGTTTCTGAGCCTTCTGCCCTGCGGGGACACGGTCTGCACCCTGCCCGCGGCCACGGACCATGACCATGACCCTCCACACCAAAGCATCTGGGATGGCCCTACTGCATCAGATCCAAGGGAACGAGCTGGAGCCCCTGAACCGTCCGCAGCTCAAGATCCCCCTGGAGCGGCCCCTGGGCGAGGTGTACCTGGACAGCAGCAAGCCCGCCGTGTACAACTACCCCGAGGGCGCCGCCTACGAGTTCAACGCCGCGGCCGCCGCCAACGCGCAGGTCTACGGTCAGACCGGCCTCCCCTACGGCCCCGGGTCTGAGGCTGCGGCGTTCGGCTCCAACGGCCTGGGGGGTTTCCCCCCACTCAACAGCGTGTCTCCGAGCCCGCTGATGCTACTGCACCCGCCGCCGCAGCTGTCGCCTTTCCTGCAGCCCCACGGCCAGCAGGTGCCCTACTACCTGGAGAACGAGCCCAGCGGCTACACGGTGCGCGAGGCCGGCCCGCCGGCATTCTACAG___GCCAAATTCAGATAATCGACGCCAGGGTGGCAGAGAAAGATTGGCCAGTACCAATGACAAGGGAAGTATGGCTATGGAATCTGCCAAGGAGACTCGCTACTGTGCAGTGTGCAATGACTATGCTTCAGGCTACCATTATGGAGTCTGGTCCTGTGAGGGCTGCAAGGCCTTCTTCAAGAGAAGTATTCAAG___GACATAACGACTATATGTGTCCAGCCACCAACCAGTGCACCATTGATAAAAACAGGAGGAAGAGCTGCCAGGCCTGCCGGCTCCGTAAATGCTACGAAGTGGGAATGATGAAAGGTG___GGATACGAAAAGACCGAAGAGGAGGGAGAATGTTGAAACACAAGCGCCAGAGAGATGATGGGGAGGGCAGGGGTGAAGTGGGGTCTGCTGGAGACATGAGAGCTGCCAACCTTTGGCCAAGCCCGCTCATGATCAAACGCTCTAAGAAGAACA)GCCTGGCCTTGTCCCTGACGGCCGACCAGATGGTCAGTGCCTTGTTGGATGCTGAGCCCCCcATACTCTATTCCGAGTATGATCCTACCAGACCCTTCAGTGAAGCTTCGATGATGGGCTTACTGACCAACCTGGCAGACAGGGAGCTGGTTCACATGATCAACTGGGCGAAGAGGGTGCCAG|AATTAAGAGAAAAAAAGTGAATATGGTTTTTGCTCACAGAATGGATAACAGCAAGCCACATTTGATTATTCCTACACTTCTGGTGCCCCTCCAAAACCGCAGCTGCACTGAAACAGCCACACCTCTGCCAAGCCAATACCTGATGGAATTAAGTGAGGAGCACAGTTGGATGAGCAACCAAACAGACCTTCAC(TATGTGCTGAAACCCGGGGAAGTGGCCACAGCCAGCATCTTCTTTGGGATTCTGTGGTTGTTTTCTATCTTCGGCAATTCCCTGGTTTGTTTGGTCATCCATAGGAGTAGGAGGACTCAGTCTACCACCAACTACTTTGTGGTCTCCATGGCATGTGCTGACCTTCTCATCAGCGTTGCCAGCACGCCTTTCGTCCTGCTCCAGTTCACCACTGGAAGGTGGACGCTGGGTAGTGCAACGTGCAAGGTTGTGCGATATTTTCAATATCTCACTCCAGGTGTCCAGATCTACGTTCTCCTCTCCATCTGCATAGACCGGTTCTACACCATCGTCTATCCTCTGAGCTTCAAGGTGTCCAGAGAAAAAGCCAAGAAAATGATTGCGGCATCGTGGGTCTTTGATGCAGGCTTTGTGACCCCTGTGCTCTTTTTCTATGGCTCCAACTGGGACAGTCATTGTAACTATTTCCTCCCCTCCTCTTGGGAAGGCACTGCCTACACTGTCATCCACTTCTTGGTGGGCTTTGTGATTCCATCTGTCCTCATAATTTTATTTTACCAAAAGGTCATAAAATATATTTGGAGAATAGGCACAGATGGCCGAACGGTGAGGAGGACAATGAACATTGTCCCTCGGACAAAAGTGAAAACTATCAAGATGTTCCTCATTTTAAATCTGTTGTTTTTGCTCTCCTGGCTGCCTTTTCATGTAGCTCAGCTATGGCACCCCCATGAACAAGACTATAAGAAAAGTTCCCTTGTTTTCACAGCTATCACATGGATATCCTTTAGTTCTTCAGCCTCTAAACCTACTCTGTATTCAATTTATAATGCCAATTTTCGGAGAGGGATGAAAGAGACTTTTTGCATGTCCTCTATGAAATGTTACCGAAGCAATGCCTATACTATCACAACAAGTTCAAGGATGGCCAAAAAAAACTACGTTGGCATTTCAGAAATCCCTTCCATGGCCAAAACTATTACCAAAGACTCGATCTATGACTCATTTGACAGAGAAGCCAAGGAAAAAAAGCTTGCTTGGCCCATTAACTCAAATCCACCAAATACTTTTGTCTAAGTTCTCATTCTTTCAATTGTTATGCACCAGAGATTAAAAAGCTTTAACTATAAAAACAGAAGCTATTTACATATTTGTTTTCACTCAACTTTCCAAGGGAAATGTTTTATTTTGTAAAATGCATTCATTTGTTTACTGTAGTTTTTGTGGGTTTTATTTTACTTGCTTTTTATGTTTTAGGAAAAGCGTTCACTTTGAACTTTAGCCAACAGTCCTTTTACTATTAATATATTAGTTACATGCATAAAAAAGAAAATGCTTTCTTACTATTTACTGTTGGTTCAAAAACATAAACCTAAGCCATACACACA)$ MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVP|elrekk* 01BR030 ENSG00000091831.23 ENSG00000183150.8 +/+ -/- chr6:151944508 chr12:12684507 CDS/splice-site 5'UTR/splice-site translocation 2 1 2 551 357 medium out-of-frame . Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Oestrogen_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%)|7_transmembrane_receptor_(rhodopsin_family)(100%) . . ENSG00000091831.23 ENSG00000183150.8 ENST00000440973.5 ENST00000651487.1 downstream downstream . ^(ATGGTCATAACAGCCTCCTGTCTACCGACTCAGAACGGATTTTACCAAAACTGAAAATGCAGGCTCCATGCTCAGAAGCTCTTTAACAGGCTCGAAAGGTCCATGCTCCTTTCTCCTGCCCATTCTATAGCATAAGAAGACAGTCTCTGAGTGATAATCTTCTCTTCAA___GAAGAAGAAAACTAGGAAGGAGTAAGCACAAAGATCTCTTCACATTCTCCGGGACTGCGGTACCAAATATCAGCACAGCACTTCTTGAAAAAGGATGTAGATTTTAATCTGAACTTTGAACCATCACTGAG___GTGGCCCGCCGGTTTCTGAGCCTTCTGCCCTGCGGGGACACGGTCTGCACCCTGCCCGCGGCCACGGACCATGACCATGACCCTCCACACCAAAGCATCTGGGATGGCCCTACTGCATCAGATCCAAGGGAACGAGCTGGAGCCCCTGAACCGTCCGCAGCTCAAGATCCCCCTGGAGCGGCCCCTGGGCGAGGTGTACCTGGACAGCAGCAAGCCCGCCGTGTACAACTACCCCGAGGGCGCCGCCTACGAGTTCAACGCCGCGGCCGCCGCCAACGCGCAGGTCTACGGTCAGACCGGCCTCCCCTACGGCCCCGGGTCTGAGGCTGCGGCGTTCGGCTCCAACGGCCTGGGGGGTTTCCCCCCACTCAACAGCGTGTCTCCGAGCCCGCTGATGCTACTGCACCCGCCGCCGCAGCTGTCGCCTTTCCTGCAGCCCCACGGCCAGCAGGTGCCCTACTACCTGGAGAACGAGCCCAGCGGCTACACGGTGCGCGAGGCCGGCCCGCCGGCATTCTACAG___GCCAAATTCAGATAATCGACGCCAGGGTGGCAGAGAAAGATTGGCCAGTACCAATGACAAGGGAAGTATGGCTATGGAATCTGCCAAGGAGACTCGCTACTGTGCAGTGTGCAATGACTATGCTTCAGGCTACCATTATGGAGTCTGGTCCTGTGAGGGCTGCAAGGCCTTCTTCAAGAGAAGTATTCAAG___GACATAACGACTATATGTGTCCAGCCACCAACCAGTGCACCATTGATAAAAACAGGAGGAAGAGCTGCCAGGCCTGCCGGCTCCGTAAATGCTACGAAGTGGGAATGATGAAAGGTG___GGATACGAAAAGACCGAAGAGGAGGGAGAATGTTGAAACACAAGCGCCAGAGAGATGATGGGGAGGGCAGGGGTGAAGTGGGGTCTGCTGGAGACATGAGAGCTGCCAACCTTTGGCCAAGCCCGCT)CATGATCAAACGCTCTAAGAAGAACAGCCTGGCCTTGTCCCTGACGGCCGACCAGATGGTCAGTGCCTTGTTGGATGCTGAGCCCCCcATACTCTATTCCGAGTATGATCCTACCAGACCCTTCAGTGAAGCTTCGATGATGGGCTTACTGACCAACCTGGCAGACAGGGAGCTGGTTCACATGATCAACTGGGCGAAGAGGGTGCCAG|GAAGCAGGCTGTGAGCCAAGGGGAAGGCAGAGGACAGAAATGAATGTGTTTCCAGGCTTTCCTGGTGGTTTATGGCATTCTCCAAACTCCTATGCAAGGGCTATTCCTGACCAAGAAGATCTAAAGAGAACGTCTCTGAAATCAAGTCCGGATGAAG MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVP|gsrl* 01BR030 ENSG00000140575.13 ENSG00000170776.22 +/+ +/- chr15:90456315 chr15:85560126 CDS/splice-site intron inversion/3'-3' 30 19 0 193 26 high out-of-frame . Calponin_homology_(CH)_domain(100%)| . . ENSG00000140575.13 ENSG00000170776.22 ENST00000268182.10 . downstream downstream . ^(GACCCCGGCAAGCCCGCGCACTTGGCAGGAGCTGTAGCTACCGCCGTCCGCGCCTCCAAGGTTTCACGGCTTCCTCAGCAGAGACTCGGGCTCGTCCGCCATGTCCGCCGCAGACGAGGTTGACGGGCTGGGCGTGGCCCGGCCGCACTATGGCT___CTGTCCTGGATAATGAAAGACTTACTGCAGAGGAGATGGATGAAAGGAGACGTCAGAACGTGGCTTATGAGTACCTTTGTCATTTGGAAGAAGCGAAGAG___GTGGATGGAAGCATGCCTAGGGGAAGATCTGCCTCCCACCACAGAACTGGAGGAGGGGCTTAGGAATGGGGTCTACCTTGCCAAACTGGGGAACTTCTTCTCTCCCAAAGTAGTGTCCCTGAAAAAAATCTATGATCGAGAACAGACCAGATACAAG___GCGACTGGCCTCCACTTTAGACACACTGATAATGTGATTCAGTGGTTGAATGCCATGGATGAGATTGGATTGCCTAAG___ATTTTTTACCCAGAAACTACAGATATCTATGATCGAAAGAACATGCCAAGATGTATCTACTGTATCCATGCACTCAG___TTTGTACCTGTTCAAGCTAGGCCTGGCCCCTCAGATTCAAGACCTATATGGAAAGGTTGACTTCACAG___AAGAAGAAATCAACAACATGAAGACTGAGTTGGAGAAGTATGGCATCCAGATGCCTGCCTTTAGCAAGATTGGGGGCATCTTGGCTAATGAACTGTCAGTGGATGAAGCCGCAT___TACATGCTGCTGTTATTGCTATTAATGAAGCTATTGACCGTAGAATTCCAGCCGACACATTTGCAGCTTTGAAAAATCCGAATGCCATGCTTGTAAATCTTGAAGAGCCCTTGGCATCCACTTACCAGGATATACTTTACCAGGCTAAGCAGGACAAAATGACAAATGCTAAAAACAGG___ACAGAAAACTCAGAGAGAGAAAGAGATGTTTATGAGGAGCTGCTCACGCAAGCTGAAATTCAAGGCAATATAAACAAAGTCAATA___CATTTTCTGCATTAGCAAATATCGACCTGGCTTTAGAACAAGGAGATGCACTGGCCTTGTTCAGGGCTCTGCAGTCACCAGCCCTGGGGCTTCGAGGACTGCAGCAACAGAATAGCGACTGGTACTTGAAGCAGCTCCTGAGTGATAAACAGCAGAAGAGACAG___AGTGGTCAGACTGACCCCCTGCAGAAGGAGGAGCTGCAGTCTGGAGTGGATGCTGCAAACAGTGCTGCCCAGCAATATCAGAGAA___GATTGGCAGCAGTAGCACTGATTAATGCTGCAATCCAGAAGGGTGTTGCTGAGAAGACTGTTTTGGAACTGATGAATCCCGAAGCCCAGCTGCCCCAGGTGTATCCATTTGCCGCCGATCTCTATCAGAAGGAGCTGGCTACCCTGCAGCGACAAAGTCCTGAA___CATAATCTCACCCACCCAGAGCTCTCTGTCGCAGTGGAGATGTTGTCATCGGTGGCCCTGATCAACAGGGCATTGGAATCAGGAGATGTGAATACAGTGTGGAAGCAATTGAGCAGTTCAGTTACTGGTCTTACCAATATTGAGGAAGAAAACTGTCAGAG___GTATCTCGATGAGTTGATGAAACTGAAGGCTCAGGCACATGCAGAGAATAATGAATTCATTACATGGA)ATGATATCCAAGCTTGCGTGGACCATGTGAACCTGGTGGTGCAAGAGGAACATGAGA___GGATTTTAGCCATTGGTTTAATTAATGAAGCCCTGGATGAAGGTGATGCCCAAAAGACTCTGCAGGCCCTACAGATTCCTGCAGCTAAACTTGAGGGAGTCCTTGCAGAAGTGGCCCAGCATTACCAAGACACGCTGATTAGAGCGAAGAGAGAGAAAGCCCAG|GTGGAGACAGCAGGTATCACAGGAGCTCCTTGAAACGAACACAGGAGTAATAAACCATGACGCAGACATCTGCGCTTAGGCTCCAATGCAGTTATATTTAGTTCACAGTAGACCAACACCAACATCAAATAGATCCTCATCTAAGAAACAATCCCAGATAATCTTTACTCACTCACTAATGTACTTTTTCTTTTCCAACCTTCTCACCCCCCAGATGACTTAGAGCATCTAAGTGATTATAAGTTATAAGTGATTAAATAAAGCAGGGGTCCCCAACT MSAADEVDGLGVARPHYGSVLDNERLTAEEMDERRRQNVAYEYLCHLEEAKRWMEACLGEDLPPTTELEEGLRNGVYLAKLGNFFSPKVVSLKKIYDREQTRYKATGLHFRHTDNVIQWLNAMDEIGLPKIFYPETTDIYDRKNMPRCIYCIHALSLYLFKLGLAPQIQDLYGKVDFTEEEINNMKTELEKYGIQMPAFSKIGGILANELSVDEAALHAAVIAINEAIDRRIPADTFAALKNPNAMLVNLEEPLASTYQDILYQAKQDKMTNAKNRTENSERERDVYEELLTQAEIQGNINKVNTFSALANIDLALEQGDALALFRALQSPALGLRGLQQQNSDWYLKQLLSDKQQKRQSGQTDPLQKEELQSGVDAANSAAQQYQRRLAAVALINAAIQKGVAEKTVLELMNPEAQLPQVYPFAADLYQKELATLQRQSPEHNLTHPELSVAVEMLSSVALINRALESGDVNTVWKQLSSSVTGLTNIEEENCQRYLDELMKLKAQAHAENNEFITWNDIQACVDHVNLVVQEEHERILAIGLINEALDEGDAQKTLQALQIPAAKLEGVLAEVAQHYQDTLIRAKREKAQ|vetagitgap* 01BR030 ENSG00000173335.5 ENSG00000101435.5 -/- -/- chr20:23603621 chr20:23565037 CDS CDS/splice-site deletion/read-through 24 11 1 506 75 high in-frame . . . . ENSG00000173335.5 ENSG00000101435.5 ENST00000376971.4 ENST00000376979.4 upstream downstream duplicates(1) ^(AGTGGACGCCAGGGATCTGAAGGGCAAAGGCAAGGGCTGCTGGAGCCTGCATCATGTCGAGTCCGCAGAGGAGGAAGGCTATGCCCTGGGCACTGTCACTGCTTCTCATGGGCTTCCAGCTCCTGGTGA)CTTATGCCTGGTGTTCTGAAGAGGAAATGGGTGGTAATAATAAAATAGTCCAGGATCCTATGTTCtTCGCCACAGTGGAGTTTGCCTTGAACACTTTCAACGTGCAGAGCAAGGAGGAGCATGCCTACAGGCTGTTGCGCGTCCTGAGTTCATGGAGGGAGGATAGCATGGACAGAAAG___TGGCGAGGTAAGATGGTGTTCTCCATGAATCTGCAACTGCGCCAAACCGTATGTAGGAAATTTGAAGATGACATTGACAACTGCCCTTTTCAAGAAAGCCTGGAGCTGAACAAC|ACTTTCACCTGCTTCTTCACCATCAGCACCAGGCCCTGGATGACTCAGTTCAGCCTCCTGAACAAGACCTGCTTGGAGGGATTCCACTGAGTGAAACCCACTCACAGGCTTGTCCATGTGCTGCTCCCACATTCCGTGGACATCAGCACTACTCTCCTGAGGACTCTTCAGTGGCTGAGCAGCTTTGGACTTGTTTGTTATCC(TATTTTGCATGTGTTTGAGATCTCAGATCAGTGTTTTAGAAAATCCACACATCTTGAGCCTAATCATGTAGTGTAGATCATTAAACATCAGCATTTTAAGAAA)$ MSSPQRRKAMPWALSLLLMGFQLLVTYAWCSEEEMGGNNKIVQDPMFfATVEFALNTFNVQSKEEHAYRLLRVLSSWREDSMDRKWRGKMVFSMNLQLRQTVCRKFEDDIDNCPFQESLELNN|TFTCFFTISTRPWMTQFSLLNKTCLEGFH* 01BR030 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 10 25 0 35 171 high . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000369458.8 upstream downstream duplicates(1),low_entropy(1) CTCCtGAGACCTTAGGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG___GGAGACACTCCATCACAGTCACTACTGTCGCCTCAGCTGGGAACATTGGGGAGGATGGAATCCTGAGCTGCACTTTTGAACCTGACATCAAACTTTCTGATATCGTGATACAATGGCTG(AAGGAAGGTGTTTTAGGCTTGGTCCATGAGTTCAAAGAAGGCAAAGATGAGCTGTCGGAGCAGGATGAAATGTTCAGAGGCCGGACAGCAGTGTTTGCTGATCAAGTGATAGTTGGCAATGCCTCTTTGCGGCTGAAAAACGTGCAACTCACAGATGCTGGCACCTACAAATGTTATATCATCACTTCTAAAGGCAAGGGGAATGCTAACCTTGAGTATAAAACTGGAG___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACCA)$ . 01BR030 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 7 0 94 69 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCA)GAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR030 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 9 0 21 25 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1),mismappers(1) GGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGC(TGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR030 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 15 0 24 58 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(2) CGGAGTTAAAAAAAAAAGAGGTGAAACTGCGGGACCGGCGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCaCCaCTCCCCTACGcCGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGC(TGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 01BR030 ENSG00000163110.15 ENSG00000154556.18 +/+ -/- chr4:94586444 chr4:185690611 CDS/splice-site 5'UTR/splice-site inversion 11 5 0 84 18 high in-frame . Domain_of_unknown_function_(DUF4749)(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%)|SH3_domain(100%),Sorbin_homologous_domain(100%),Variant_SH3_domain(100%) . . ENSG00000163110.15 ENSG00000154556.18 ENST00000615540.4 ENST00000355634.9 downstream downstream . ^(GTGTCCTGGGTCGGGGGTGGGGCGAGGGAGAGCCAGGAGGCGGAAGTTCCCGCGGGCGGTGGGGACGGCGCCCTCACCGCGAGTCACTTGTCAGCCCTTGTCTGAGGCGGAGGCAGCCCCGCGCCGCGCCGGACCCGAG___CATATTTCATTTTCTGTCATTGGACTTTGAGCCATTAGAACCATGAGCAACTACAGTGTGTCACTGGTTGGCCCAGCTCCTTGGGGTTTCCGGCTGCAGGGCGGTAAGGATTTCAACATGCCTCTGACAATCTCTAGT___CTAAAAGATGGCGGCAAGGCAGCCCAGGCAAATGTAAGAATAGGCGATGTGGTTCTCAGCATTGATGGAATAAATGCACAAGGAATGACTCATCTTGAAGCCCAGAATAAGATTAAGGGTTGTACAGGCTCTTTGAATATGACTCTGCAAAG___AGCATCTGCTGCACCCAAGCCTGAGCCGGTTCCTGTTCAAAAG___CCCACAGTCACCAGCGTGTGTTCCGAGACTTCTCAGGAGCTAGCAGAGGGACAGAGAAGAGGATCCCAGGGTGACAGTAAACAGCAAAATGG___GAAAATCCCACCTAAACG___CCCACCAAGAAAACACATT)GTGGAGCGCTATACAGAGTTTTATCATGTACCCACTCACAGTGATGCCAGCAAGAAGAGACTGATTGAGGATACTGAAGACTGGCGTCCAAGaACTGGAACAACTCAGTCTCGCTCTTTCCGAATCCTTGCCCAGATCACTGGGACTGAACATT___TGAAAGAATCTGAAGCCGATAATACAAAGAAGGCAAA|GAAAACTGAAGACTTTAATAACAAACTCTCCAAGGTGAAAATGAACACAG___ATAGCGGTGGGTGTGCTCGCAAACGTGCCGCCATGTCTGTTACGCTAACATCTGTGAAGAGAGTGCAAAGTTCTCCAAACCTATTGGCTGCAG___GGCGTGATTCTCAGTCACCAGACTCAG___CTTGGAGATCTTACAATGATGGCAATCAGGAGACACTGAAC(GGAGATGCTACATATTCCTCTCTTGCAGCAAAAGGTTTTAGAAGCGTTCGACCAAACCTACAAGATAAAAGATCACCAACTCAG___AGCCAGATAACAGTGAATGGAAACTCAGGAGGTGCCGTGAGTCCCATGAGTTACTATCAGAGGCCGTTTTCCCCCTCGGCATATTCTCTCCCAGCCTCACTCAACTCCAGCATTGTCATGCAGCACGGCACATCCCTCG___ATTCCACAGACACATATCCCCAGCATGCGCAGTCTCTGGATGGCACCACCAGCAGCTCTATCCCCCTGTACCGATCCTCAGAGGAAGAGAAGAGAGTGACAGTCATCAAAGCCCCGCATTACCCAGGGATCGGGCCCGTGGATGAATCCGGAATCCCCACAGCAATTAGAACG___ACAGTCGACCGGCCCAAGGACTGGTACAAGACGATGTTTAAGCAAATTCACATGGTGCACAAGCCGG___ATGATGACACAGACATGTATAATACTCCTTATACATACAATGCAG___GTCTGTACAACCCACCCTACAGTGCTCAGTCACACCCTGCTGCAAAGACCCAAACCTACAGACCTCTTTCCAAAAGCCACTCCGACAACAGCCCCAATGCCTTTAAGGATGCGTCCTCCCCAGTGCCTCCCCCACATGTTCCACCTCCAGTCCCGCCGCTTCGACCAAGAGATCGGTCTTCAACAGAAAA___GCATGACTGGGATCCTCCAGACAGAAAAGTGGACACAAGAAAATTTCGGTCTGAGCCAAGGAGTATTTTTGAATATGAACCTGGCAAGTCATCAATTCTTCAGCATGAAAGACCA___GCCTCCTTGTATCAGTCCTCTATAGACAGAAGCCTGGAAAGACCCATGAG___TTCTGCAAGCATGGCCAGTGACTTCAGGAAGCGGAGGAAGAGCGAGCCTGCAGTGGGTCCACCACGGGGCTTGGGAGATCAAAGTGCGAGCAGGACTAGCCCAGGCCGAGTGGACCTCCCAGGATCAAGCACCACTCTTACAAAGTCTTTCACTAGCTCTTCTCCTTCTTCCCCATCAAGAGCAAAAG___GTGGGGATGATAGCAAAATATGTCCATCCCTTTGCAGTTACTCAGGGCTCAACGGCAACCCCTCCAGTGAGTTAGATTACTGTAGCACTTACAGACAGCACTTGGATGTCCCTCGGGACTCACCAAGAGCCATTAGTTTCAAGAACGGCTGGCAAATGGCCCGGCAAAACGCAGAAATCTGGAGCAGCACGGAAGAAACCGTCTCTCCCAAAATCAAATCCCGGAGCTGTGACGATCTCCTAAACGACGACTGCGATAGCTTCCCGGACCCGAAAGTCAAGTCGGAAAGCATGGGCTCCCTGTTATGTGAGGAGGACTCCAAGGAGAGCTGCCCCATGGCGTGGGGGTCCCCCTACGTCCCGGAGGTTCGCAGTAACGGCAGATCAAGGATCAGACACAGGTCAGCCCGCAACGCCCCGGGGTTCCTGAAGATGTACAAGAAAATGCACCGCATCAACCGCAAGGACCTGATGAACTCCGAGGTGATCTGCTCCGTGAAGTCCAGGATTCTGCAGTACGAGAGCGAGCAGCAGCACAAGGACCTGCTGCGCGCCTGGAGCCAGTGCTCCACGGAGGAGGTGCCCCGGGACATGGTGCCCACACGCATCTCCGAATTCGAAAAGCTGATCCAGAAGTCCAAATCCATGCCAAATTTAGGGGATGACATGCTGTCTCCCGTAACCCTAGAACCACCGCAAAATGGCCTATGTCCCAAGAGGCGGTTTTCCATTGAGTATTTGCTGGAGGAAGAAAATCAAAGCGGCCCCCCCGCTCGGGGCCGGCGAGGCTGCCAGTCTAACGCCCTGGTGCCCATTCACATTGAAGTCACCAGCGATGAGCAGCCCCGAGCACACGTGGAGTTTTCCGACAGCGACCAGGACGGGGTTGTGTCCGACCACAGTGACTACATTCACCTAGAGGGGTCATCCTTCTGCAGTGAAAGTGACTTTGATCACTTTTCCTTCACATCCTCCGAAAGCTTTTACGGATCCAGCCACCACCACCACCATCACCACCACCACCACCACCGCCACCTCATCAGCTCCTGCAAAGGCAGGTGCCCGGCCTCCTACACTCGATTTACCACAATGTTAAAACACGAAAGAGCCAGACACGAAAACACCGAGGAGCCCAGAAGGCAAGAAATGGACCCTGGCCTTTCTAAACTTGCTTTTCTAGTCAGTCCTGTGCCTTTCCGGAGGAAAAAAAATTCGGCTCCTAAGAAACAGACTGAAAAGGCAAAATGTAAAGCATCTGTGTTTGAGGCTCTGGACTCTGCCCTTAAAGACATCTGTGACCAAATTAAAGCTGAAAAGAAAAGGGGGAGCTTGCCGGACAACAGCATCCTGCACCGCCTCATCAGTGAGCTGCTGCCAGATGTTCCCGAGAGGAACTCATCCCTGAGAGCGCTGAGGAGGAGCCCCCTGCACCAGCCTCTCCACCCACTGCCTCCCGATGGTGCTATTCATTGTCCACCCTACCAGAATGACTGCGGGAGAATGCCCCGCAGTGCCTCTTTCCAAGACGTGGACACAGCCAACAGCAGCTGCCACCACCAAGACCGTGGCGGTGCACTCCAAG___ACCGTGAGTCCCCTAGAAGTTACTCATCCACTTTGACTGACATGGGGAGAAGTGCACCAAGGGAAAGAAGAGGAACTCCAGAAAAAGAG___AAATTGCCTGCAAAAGCTGTTTATGATTTTAAGGCTCAGACATCTAA___GGAGTTGTCATTTAAGAAAGGAGATACTGTCTACATCCTCAGGAAAATTGATCAAAATTGGTATGAGGGAGAACACCACGGGAGAGTGGGCATCTTCCCGATCTCATACGTAGAG___AAACTCACACCTCCTGAGAAAGCACAGCCTGCAAGACCACCTCCGCCAGCCCAGCCCGGAGAAATCGGAGAAGCTATAGCCAAATACAACTTCAACGCAGACACAAATGTGGAGCTGTCACTGAGAAAG___GGAGATAGAGTTATTCTTCTTAAAAGAGTTGATCAAAACTGGTATGAAGGTAAAATCCCAGGAACCAACAGACAAGGCATCTTCCCTGTTTCCTATGTGGAGGTCGTCAAGAAGAACACAAAAGGTGCTGAGGACTACCCTGACCCTCCAATACCCCACAGCTATTCTAGTGATAGGATTCACAGCTTGAGCTCAAATAAG___CCACAGCGTCCTGTGTTTACTCATGAAAATATTCAAGGTGGGGGGGAACC___GTTTCAGGCTCTGTATAACTATACTCCCAGGAATGAAGATGAGCTGGAGCTCAGAGAAAGTGATGTCATTGATGTCATGGAAAAGTGTGATGACGGCTGGTTTGTGG___GGACCTCAAGAAGAACCAAATTCTTTGGTACTTTCCCCGGAAACTACGTCAAGAGGCTGTGAATTGCGCTCCCTCCTTCTGTAGAGGCCGCCTGCCAGCCATGCACCTGCGTCAACGCGCCTGAAACACCCCGCGGGCCTCCCGTTGTCATGCCTTACGGTTTCCAATGCGCCGTCACCATCTCCACCTGCCACCAAACCACCAGCAGAGTAGCCGCCGCTGCTGTGAGCCTGGGGACGACATGGCAGGCTGGTCCCCCTCCGTGAAAGTGTGGATTCCTACTTCCTGCTCTAAGCTTTGACACGTCAAAATGTGGGATCAGAAAGAAAAAAATCATGATATTTAAAAATGGTCAAATATTTGAGGC)$ MSNYSVSLVGPAPWGFRLQGGKDFNMPLTISSLKDGGKAAQANVRIGDVVLSIDGINAQGMTHLEAQNKIKGCTGSLNMTLQRASAAPKPEPVPVQKPTVTSVCSETSQELAEGQRRGSQGDSKQQNGKIPPKRPPRKHIVERYTEFYHVPTHSDASKKRLIEDTEDWRPRTGTTQSRSFRILAQITGTEHLKESEADNTKKAk|ktedfnnklskvkMNTDSGGCARKRAAMSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKGGDDSKICPSLCSYSGLNGNPSSELDYCSTYRQHLDVPRDSPRAISFKNGWQMARQNAEIWSSTEETVSPKIKSRSCDDLLNDDCDSFPDPKVKSESMGSLLCEEDSKESCPMAWGSPYVPEVRSNGRSRIRHRSARNAPGFLKMYKKMHRINRKDLMNSEVICSVKSRILQYESEQQHKDLLRAWSQCSTEEVPRDMVPTRISEFEKLIQKSKSMPNLGDDMLSPVTLEPPQNGLCPKRRFSIEYLLEEENQSGPPARGRRGCQSNALVPIHIEVTSDEQPRAHVEFSDSDQDGVVSDHSDYIHLEGSSFCSESDFDHFSFTSSESFYGSSHHHHHHHHHHHRHLISSCKGRCPASYTRFTTMLKHERARHENTEEPRRQEMDPGLSKLAFLVSPVPFRRKKNSAPKKQTEKAKCKASVFEALDSALKDICDQIKAEKKRGSLPDNSILHRLISELLPDVPERNSSLRALRRSPLHQPLHPLPPDGAIHCPPYQNDCGRMPRSASFQDVDTANSSCHHQDRGGALQDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALYNYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL* 01BR030 ENSG00000128487.16 ENSG00000242586.1(78241),ENSG00000286329.1(82170) +/+ ./- chr17:20096798 chr3:80520546 CDS/splice-site intergenic translocation 4 6 0 10 11 high out-of-frame . . . . ENSG00000128487.16 . ENST00000395527.8 . downstream downstream . ^(ATCAGTGAGCGCCCGGAGCCGTGGCCGCTGGGGGTTGCGGCGGCGCTGAGCCAGCGGGGCCG___GACAGACCCACGAA)GTCAAGCATGCGGAGTGCAGCCAAGCCCTGGAACCCAGCCATCAGAGCAGGGGGCCACGGCCCAGACCGGGTGCGGCCTCTGCCTGCAGCCTCTTCCGGCATGAAGAGTTCTAAGTCTTCAACTTCCTTGGCTTTTGAGTCCCGACTCAGCAGG|AAGCTGAAGTTCCTGTATCTGCCTACGATCCAGACCCACCAAGGAGGACGACAGTGTTTTTCTTTTCTTCCCCTCCACGTTATCTCATTATCTGTAGCAGAAAAGAAGACCAAGATGTGGCTACACCCGAGCAGACCTTTTTCCATGTATAAAGACTGTCTCAAAGGATCATTTAAATTTCACGAACTATTTACAAGTTAATAGTTTGATTGTTCCTGGACCCAATTATTCTCCC MRSAAKPWNPAIRAGGHGPDRVRPLPAASSGMKSSKSSTSLAFESRLSR|klkflylptiqthqggrqcfsflplhvislsvaekktkmwlhpsrpfsmykdclkgsfkfhelfts* 01BR030 ENSG00000174233.11 ENSG00000255727.2(32247),ENSG00000134533.6(68537) -/- ./+ chr12:48771710 chr12:15039246 CDS/splice-site intergenic inversion 4 2 1 71 14 high out-of-frame . Adenylate_and_Guanylate_cyclase_catalytic_domain(100%),Adenylyl_cyclase_N-terminal_extracellular_and_transmembrane_region(100%),Domain_of_Unknown_Function_(DUF1053)(100%)| . . ENSG00000174233.11 . ENST00000550422.5 . upstream upstream . ^(CGGACGGCGGACGGCGGGCGGGACGGCCAGGACGCGCGGGCTCGGAGGACCGCGGGACGGCCGGCCGGCCGGCCGGAGCCCGCGGGGGCGGCGGGGCGGGGGCCCAGGGCAGGCGCGGAGCCGGGCCGGCAG___CAACATGTCATGGTTTAGTGGCCTCCTGGTCCCTAAAGTGGATGAACGGAAAACAGCCTGGGGTGAACGCAATGGGCAGAAGCGTTCGCGGCGCCGTGGCACTCGGGCAGGTGGCTTCTGCACGCCCCGCTATATGAGCTGCCTCCGGGATGCAGAGCCACCCAGCCCCACCCCTGCGGGCCCCCCTCGGTGCCCCTGGCAGGATGACGCCTTCATCCGGAGGGGCGGCCCAGGCAAGGGCAAGGAGCTGGGGCTGCGGGCAGTGGCCCTGGGCTTCGAGGATACCGAGGTGACAACGACAGCGGGCGGGACGGCTGAGGTGGCGCCCGACGCGGTGCCCAGGAGTGGGCGATCCTGCTGGCGCCGTCTGGTGCAGGTGTTCCAGTCGAAGCAGTTCCGTTCGGCCAAGCTGGAGCGCCTGTACCAGCGGTACTTCTTCCAGATGAACCAGAGCAGCCTGACGCTGCTGATGGCGGTGCTGGTGCTGCTCACAGCGGTGCTGCTGGCTTTCCACGCCGCACCCGCCCGCCCTCAGCCTGCCTATGTGGCACTGTTGGCCTGTGCCGCCGCCCTGTTCGTGGGGCTCATGGTGGTGTGTAACCGGCATAGCTTCCGCCAGGACTCCATGTGGGTGGTGAGCTACGTGGTGCTGGGCATCCTGGCGGCAGTGCAGGTCGGGGGCGCTCTCGCAGCAGACCCGCGCAGCCCCTCTGCGGGCCTCTGGTGCCCTGTGTTCTTTGTCTACATCGCCTACACGCTCCTCCCCATCCGCATGCGGGCTGCCGTCCTCAGCGGCCTGGGCCTCTCCACCTTGCATTTGATCTTGGCCTGGCAACTTAACCGTGGTGATGCCTTCCTCTGGAAGCAG___CTCGGTGCCAATGTGCTGCTGTTCCTCTGCACCAACGTCATTGGCATCTGCACACACTATCCAGCAGAGGTGTCTCAGCGCCAGGCCTTTCAGGAGACCCGCGGTTACATCCAGGCCCGGCTCCACCTGCAGCATGAGAATCGGCAGCAG___GAGCGGCTGCTGCTGTCGGTATTGCCCCAGCACGTTGCCATGGAGATGAAAGAAGACATCAACACAAAAAAAGAAGACATGATGTTCCACAAGATCTACATACAGAAGCATGACAATGTCAG___CATCCTGTTTGCAGACATTGAGGGCTTCACCAGCCTGGCATCCCAGTGCACTGCGCAGGAGCTGGTCATGACCCTGAATGAGCTCTTTGCCCGGTTTGACAAGCTGGCTGCG___GAGAATCACTGCCTGAGGATCAAGATCTTGGGGGACTGTTACTACTGTGTGTCAGGGCTGCCGGAGGCCCGGGCCGACCATGCCCACTGCTGTGTGGAGATGGGGGTAGACATGATTGAGGCCATCTC___GCTGGTACGTGAGGTGACAGGTGTGAATGTGAACATGCGCGTGGGCATCCACAGCGGGCGCGTGCACTGCGGCGTCCTTGGCTTGCGGAAATGGCAGTTCGATGTGTGGTCCAATGATGTGACCCTGGCCAACCACATGGAGGCAGGAGGCCGGGCTGG___CCGCATCCACATCACTCGGGCAACACTGCAGTACCTGAACGGGGACTACGAGGTGGAGCCAGGCCGTGGTGGCGAGCGCAACGCGTACCTCAAGGAGCAGCACATTGAGACTTTCCTCATCCTGGGCGCCAGCCAGAAACGG___AAAGAGGAGAAGGCCATGCTGGCCAAGCTGCAGCGGACTCGGGCCAACTCCATGGAAGGGCTGATGCCGCGCTGGGTTCCTGATCGTGCCTTCTCCCGGACCAAGGACTCCAAGGCCTTCCGCCAGATG___GGCATTGATGATTCCAGCAAAGACAA___CCGGGGCACCCAAGATGCCCTGAACCCTGAGGATGAGGTGGATGAGTTCCTGAGCCGTGCCATCGATGCCCGCAGCATTGATCAGCTGCGGAAGGACCATGTGCGCCGGTTTCTGCTCACCTTCCAGAGAGAGGATCTTGAGAAGAAG___TACTCCCGGAAGGTGGATCCCCGCTTCGGAGCCTACGTTGCCTGTGCCCTGTTGGTCTTCTGCTTCATCTGCTTCATCCAGCTTCTCATCTTCCCACA___CTCCACCCTGATGCTTGGGATCTATGCCAGCATCTTCCTGCTGCTGCTAATCACCGTGCTGATCTGTGCTGTGTACTCCTGTGGTTCT___CTGTTCCCTAAGGCCCTGCAACGTCTGTCCCGCAGCATTGTCCGCTCACGGGCACATAGCACCGCAGTTGGCATCTTTTCCGTCCTGCTTGTGTTTACTTCTGCCATTGCCAACATG___TACTTCATCGGGAACATGCTGCTGAGTCTCTTGGCCAGCTCTGTCTTCCTGCACATCAGCAGCATCGGGAAGTTGGCCATGATCTTTGTCTTGGGGCTCATCTATTTGGTGCTGCTTCTGCTGGGTCCCCCAGCCACCATCTTTGACAACTATGACCTACTGCTTGGCGTCCATGGCTT___GGCTTCTTCCAATGAGACCTTTGATGGGCTGGACTG___TCCAGCTGCAGGGAGGGTGGCCCTCAAATATATGACCCCTGTGATTCTGCTGGTGTTTGCGCTGGCGCTGTATCTGCATGCTCAGCAGGTGGAGTCGACTGCCCGCCTAGACTTCCTCTGGAAACTACAG___GCAACAGGGGAGAAGGAGGAGAT)GGAGGAGCTACAGGCATACAACCGGAGGCTGCTGCATAACATTCTGCCCAAGGACGTGGCGGCCCACTTCCTGGCCCGGGAGCGCCGCAATGATGAACTCTACTATCAGTCGTGTGAGTGTGTGGCTGTTATGTTTGCCTCCATTGCCAACTTCTCTGAGTTCTATGTGGAGCTGGAGGCAAACAATGAGGGTGTCGAGTGCCTGCGGCTGCTCAACGAGATCATCGCTGACTTTGATGAG|TTTAAAAACCACTCTTCTAATCCATGTTCCCCTGGAAAATATGTAGGACGATTGCTTGAGGGGAGAGGAAATCTTCAA___AACCAAAGTAAAATGAAATGATGTGCAAG...___GCAAACCAGTAATGATGTTATAAGGGAGACATGGTCTCAGGACAGAGGAATTCACTG MSWFSGLLVPKVDERKTAWGERNGQKRSRRRGTRAGGFCTPRYMSCLRDAEPPSPTPAGPPRCPWQDDAFIRRGGPGKGKELGLRAVALGFEDTEVTTTAGGTAEVAPDAVPRSGRSCWRRLVQVFQSKQFRSAKLERLYQRYFFQMNQSSLTLLMAVLVLLTAVLLAFHAAPARPQPAYVALLACAAALFVGLMVVCNRHSFRQDSMWVVSYVVLGILAAVQVGGALAADPRSPSAGLWCPVFFVYIAYTLLPIRMRAAVLSGLGLSTLHLILAWQLNRGDAFLWKQLGANVLLFLCTNVIGICTHYPAEVSQRQAFQETRGYIQARLHLQHENRQQERLLLSVLPQHVAMEMKEDINTKKEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEMGVDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGRAGRIHITRATLQYLNGDYEVEPGRGGERNAYLKEQHIETFLILGASQKRKEEKAMLAKLQRTRANSMEGLMPRWVPDRAFSRTKDSKAFRQMGIDDSSKDNRGTQDALNPEDEVDEFLSRAIDARSIDQLRKDHVRRFLLTFQREDLEKKYSRKVDPRFGAYVACALLVFCFICFIQLLIFPHSTLMLGIYASIFLLLLITVLICAVYSCGSLFPKALQRLSRSIVRSRAHSTAVGIFSVLLVFTSAIANMYFIGNMLLSLLASSVFLHISSIGKLAMIFVLGLIYLVLLLLGPPATIFDNYDLLLGVHGLASSNETFDGLDCPAAGRVALKYMTPVILLVFALALYLHAQQVESTARLDFLWKLQATGEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDE|fknhssnpcspgkyvgrllegrgnlqnqskmk* 01BR030 ENSG00000133704.10 ENSG00000252364.1(29900),ENSG00000258239.1(9802) -/- ./+ chr12:30680482 chr12:41688693 CDS/splice-site intergenic inversion 3 3 0 39 23 high out-of-frame . Cse1(100%),Importin-beta_N-terminal_domain(100%)| . . ENSG00000133704.10 . ENST00000256079.9 . upstream upstream low_entropy(1) ^(GTAAAACGGTGAATGGAGAGCGAGTTGTGGGGGGGAAAAAGGGAGGACAGGGGGCGCGGAGTCAGAGTGGCGCAGCAAGTGGCCGCAGGTGGCGACGGTGGCGGGGGGTGGGGTGTGAGGTAATCCAGGGGTCGCGGAAGAGGAGGCTGAGAGGGTCAAAAGAAAACTAAAGCTGCAGTCCGGCCTACTGTTCCGGGGGCCGCGGAGCCCCCACCCGGGGAGATGGACCTCAACCGGATCATCCAGGCGCTGAAGGGCACCATCGACCCGAAGTTGCGGATTGCAGCCGAGAACGAGCTCAACCAG___TCCTACAAGATTATCAATTTTGCCCCCAGTTTACTTCGGATTATAGTCTCTGACCATGTGGAATTCCCAGTACGACAGGCAG___CTGCCATTTACCTGAAGAACATGGTGACACAATACTGGCCAGATCGAGAACCTCCACCAGGAGAAGCAATATTTCCATTCAACATTCACGAAAACGATCGCCAGCAAATACGTGATAACATTGTGGAAGGAATAATTCGGTCTCCAGATTTAGTGAG___AGTCCAATTAACAATGTGTCTCCGTGCCATCATAAAACATGATTTTCCTGGTCACTGGCCAGGAGTGGTCGACAAGATAGACTATTACTTGCAATCACAGAGCAGTGCAAGCTGGCTTGGCAGTTTATTAT)GCCTGTATCAACTGGTGAAGACATATGA___ATATAAGAAAGCAGAAGAGAGAGAACCTCTTATAATAGCAATGCAGATATTCCTGCCTCGTATTCAGCAACAAATTGTTCAGCTCCTTCCTGATTCCTCCTATTATTCTGTATTACTGCAGAAACAAATTCTGAAAATCTTTTATGCACTTGTTCAG|CTGGACTGCCGAAGCTCAAAGAGGGTGAGTAACTTGACCAAGAGATGTTCAGAGTCTGGAAAATGGATTCTCGGTAACTGAACTCTCGAGAATCTGATTTATGAACCCAAAGTCTCATTTACTTCTTTTAATGGAAGgTCGATGTGGAAGAATAACTGATGCCC MDLNRIIQALKGTIDPKLRIAAENELNQSYKIINFAPSLLRIIVSDHVEFPVRQAAAIYLKNMVTQYWPDREPPPGEAIFPFNIHENDRQQIRDNIVEGIIRSPDLVRVQLTMCLRAIIKHDFPGHWPGVVDKIDYYLQSQSSASWLGSLLCLYQLVKTYEYKKAEEREPLIIAMQIFLPRIQQQIVQLLPDSSYYSVLLQKQILKIFYALVQ|ldcrsskrvsnltkrcsesgkwilgn* 01BR030 ENSG00000175105.7 ENSG00000185008.17 +/+ +/- chr3:88086402 chr3:76900900 CDS/splice-site intron inversion/3'-3' 2 1 0 10 20 high out-of-frame . . . . ENSG00000175105.7 ENSG00000185008.17 ENST00000636215.2 . downstream downstream . ^(AGCCTAGGCATCTACGGCGGCGGCGGCGGCGCAGGGGCTGGTACGCGCTGGGCGGCGAGAGCCTCATGGCGGAGGAAGAGAGCGACCAAGAGGCCGAACGCCTCGGAGAAGAGCTTGTGGCCATTGTGGAGTCCCCGCTGGGCCCTGTGGGGCTTAGAGCTGCGGGCGACGGCAGAGGCGGCGCTGGCAGCGGCAACTGCGGCGGCGGCGTCGGAATCAGCAGTCGGGATTACTGCCGACGCTTCTGTCAG___GTGGTTGAAGATTATGCTGGAAGATGGCAGGTCCCTTTGC)CACAGCTTCAGGTTCTTCAGACTGCCCTTTGTTGTTTTACAACAGCCAGTGCATCATTCCCAGATGAATGTGAGCATGTACAATATGTTTTGAGTAGCCTTGCTGT|AGTAACTGTGAGCAGAGCTGCTGTAAAACACCAGATGGAAAGGAAGCAGTTCAACACCATCTTTTCTTCATCTGCCTTGCTGTGGCACTCAGCTTCTCACTGCATACAGG MAEEESDQEAERLGEELVAIVESPLGPVGLRAAGDGRGGAGSGNCGGGVGISSRDYCRRFCQVVEDYAGRWQVPLPQLQVLQTALCCFTTASASFPDECEHVQYVLSSLAv|vtvsraavkhqmerkqfntifsssallwhsashciq 01BR030 ENSG00000104369.5 ENSG00000254349.6 -/- +/- chr8:74259385 chr8:74638120 CDS/splice-site intron duplication/5'-5' 2 1 0 6 16 high out-of-frame . MORN_repeat(100%)| . . ENSG00000104369.5 ENSG00000254349.6 ENST00000342232.5 . upstream downstream . ^(CTCTCGCGCGCGGCGCTGGCCCAGGCGGCGGCGGCGAAGGAGGAGGAGGAGGAGGAGGAAGGCGGCGGTGGCGGCGGCAAAAGAGGAGGGAGGACGGGGGCGGCGTCGGACTGGAGCCGAGCGGCAGCGCGAGCTGCCCAGGGCGCTGTCGTGAGCTCGCCCGCCGGGCCCCCACCCCCGAGCTACACCCTGCCGTGCCCAGCACTGCCCGCGTCCGTGCCCCTGCGGGGAGCGCGCCGGGGCTGCCCCCCGAATGACGGGCGGAAGGTTCGACTTCGACGATGGCGGCACCTACTGCGGCGGCTGGGAGGAGGGCAAGGCGCACGGGCATGGCATCTGCACGGGGCCCAAGGGCCAGGGCGAGTACTCGGGCTCCTGGTCGCACGGCTTCGAGGTGGTCGGAGGCTACACCTGGCCCAGCGGCAACACCTACCAGGGCTACTGGGCGCAGGGCAAGCGGCACGGGCTGGGGGTGGAGACGAAGGGCAAGTGGATGTACCGGGGGGAGTGGTCACATGGTTTCAAGGGGCGCTACGGGGTCCGGCAGAGCCTGTGCACCCCCGCTCGCTACGAGGGTACCTGGAGTAACGGGCTGCAAGACGGGTACGGCGTGGAGACCTACGGGGACGGAG___GTACCTACCAGGGCCAGTGGGCCGGAGGCATGCGGCATGGCTACGGCGTGCGCCAGAGCGTGCCCTACGGCATGGCCACGGTGATCCGCTCACCGCTGCGTACCTCGCTGGCCTCGCTGCGCAGCGAGCAGAGCAATGGCAGCGTGCTCCACGACGCCGCAGCCGCCGCCGACAGCCCGGCCGGCACCCGCGGCGGTTTCGTGCTCAACTTCCACGCAGACGCTGAGCTAGCGGGCAAGAAGAAGGGCGGCCTCTTCCGGAGGGGCTCCCTTCTTGGAAGCATGAAACTTCGCAAGTCCGAATCCAAGTCTTCCATCTCGAGCAAGCGCAGCTCTGTCCGCAGCGACGCGGCCATGAGCAGAATTAGTTCCAGCGATGCCAACTCCACGATCAGCTTTGGCGATGTAGATTGTGATTTTTGCCCGGTGGAAGACCACGTGGACGCCACCACCACGGAAACCTACATGGGCGAGTGGAAGAACGACAAGCGCAACGGCTTCGGCGTTAGCGAGCGCTCCAATGGCATGAAGTATGAAGGGGAGTGGGCAAATAACAAGAGGCATGGATATGGCTGTACCGTGTTTCCTGACGGCTCCAAAGAAGAGGGAAAATACAAAAATAATATTCTGGTCCGTGGGATAAGGAAGCAGCTTATACCAATAAGACATACAAAAACTAGGGAGAAGGTGGACAGAGCAATTGAAGGCGCCCAAAGGGCAGCTGCCATGGCCAGAACCAAAGTGGAAATAGCAAATTCAAG___GACTGCACATGCCAGAG)CGAAGGCCGATGCCGCCGACCAGGCCGCGCTGGCCGCTCGCCAGGAGTGCGACATCGCGAGAGCTGTGGCCAGGGAGCTGTCACCTGATTTCTACCAACCAG|GAGCTCAAACATCACTTCTTCAGGAATGTGTACACTGATTCCCATT___TTAACTCAGACTGCCAGCTGGTAAAACTGTTTTCCGAGAAAAAATGTAAAAGCATCCTAAATTCAAGGACAAAAATTTGCAGAATTGGTGGATTATTGGAGCACCACACAGTGATAAATACATTAAAGGCTATCATCCCAGCAGGACTTGG MTGGRFDFDDGGTYCGGWEEGKAHGHGICTGPKGQGEYSGSWSHGFEVVGGYTWPSGNTYQGYWAQGKRHGLGVETKGKWMYRGEWSHGFKGRYGVRQSLCTPARYEGTWSNGLQDGYGVETYGDGGTYQGQWAGGMRHGYGVRQSVPYGMATVIRSPLRTSLASLRSEQSNGSVLHDAAAAADSPAGTRGGFVLNFHADAELAGKKKGGLFRRGSLLGSMKLRKSESKSSISSKRSSVRSDAAMSRISSSDANSTISFGDVDCDFCPVEDHVDATTTETYMGEWKNDKRNGFGVSERSNGMKYEGEWANNKRHGYGCTVFPDGSKEEGKYKNNILVRGIRKQLIPIRHTKTREKVDRAIEGAQRAAAMARTKVEIANSRTAHARAKADAADQAALAARQECDIARAVARELSPDFYQP|gaqtsllqecvh* 01BR030 ENSG00000083290.20 ENSG00000175105.7 -/- +/+ chr17:19776309 chr3:88086257 3'UTR/splice-site CDS/splice-site translocation 1 2 0 133 10 high stop-codon . Domain_of_unknown_function_(DUF3543)(100%),Protein_kinase_domain(100%)| . . ENSG00000083290.20 ENSG00000175105.7 ENST00000361658.6 ENST00000636215.2 upstream upstream . ^(AGTCGCGCGGGAGCGGGTAGCGCGCGCGAGGGCGTTGGGCGCCGCCGCGAGGCGGGGAAGCGCGGGGCCGCGGCGGTGCGGGTTCTAGGGCGGCGGCCGTCGCCGTCGCAGCAGCGCCCCGAGCGGGGAGGGCCGAGGAGGCCCGACGAGCTGGGGATGGAGAGTACCGGGCCCCTCACTGCCTCAGAGCGCGTGTGCGGCTCTGGGCGCGCACAGTGACGGTGACGGCACCCCTGGCCCGGCAGCGCCGAGGCCGCTTCGCCAGACAGCCAGCGGCCGGCGGCAGGCCGGGCCATGAGCGGCAGGGGCCGGGCCGGGCCTCGCTGACCCTGGCTCCGCGCGGCAGCTTCCCCAGTTTCCGCTCCGGTCTCTCGGCATGAGAGTCCGCCCGGGCCCGGGGCTGCGGCTGCCCCAGACCCGCCGCACGCTGGCGCGCTCCGGGCCCGCGGAGCCGCGGTGCTGATACCTGCGCCGCACTGCGCCGCCCGCCCGTCCGCTGTGTGCCCCGGGGGCGCGGCCATGGAGGTGGTGGGTGACTTCGAGTACAGCAAGAGGGATCTCGTGGGACACGGGGCCTTCGCCGTGGTCTTCCGGGGGCGGCACCGCCAG___AAAACTGATTGGGAGGTAGCTATTAAAAGTATTAATAAAAAGAACTTGTCAAAATCACAAATACTGCTTGGAAAGGAAATTAAAATCTTAAAG___GAACTTCAGCATGAAAATATTGTAGCACTCTATGATGTTCAG___GAATTACCCAACTCTGTCTTTTTGGTGATGGAG___TATTGCAATGGTGGAGACCTCGCAGATTATTTGCAAG___CGAAAGGGACTCTCAGTGAAGACACGATCAGAGTGTTTCTGCATCAGATTGCTGCTGCCATGCGAATCCTGCACAGCAAAGGAATCATCCACAGAGATCTCAAACCACAGAACATCTTGCTGTCCTATGCCAATCGCAGAAAATCAAGTGTCAGTGGTATTCGCATCAAAATAG___CGGATTTTGGTTTTGCTCGTTACCTACATAGTAACATGATGGCTGCAACACTGTGTGGATCCCCGATGTACATG___GCTCCTGAGGTTATTATGTCTCAACATTATGATGCTAAGGCTGACTTGTGGAGCATAGGAACAGTGATATACCAATGCCTAGTTGGAAAACCACCTTTTCAG___GCCAATAGTCCTCAAGACTTAAGGATGTTTTATGAAAAAAACAGGAGCTTAATGCCTAG___TATTCCCAGAGAAACATCACCTTATTTGGCTAATCTCCTTTTGGGTTTGCTTCAGAGAAACCAAAAAGATAGAATGGACTTTG___AAGCATTTTTTAGCCATCCTTTTCTTGAGCAAGGTCCAGTAAAAAAAT___CTTGCCCAGTTCCAGTGCCCATGTATTCTGGTTCTGTCTCTGGAAGCTCCTGTGGCAGCTCTCCATCTTGTCGTTTTGCTTCTCCACCA___TCCCTTCCAGATATGCAGCATATTCAGGAAGAAAACTTATCTTCCCCACCATTGGGTCCTCCCAACTATCTACAAGTTTCCAAAGATTCTGCCAGTACTAGTAGCAAGAACTCTTCTTGTGACACGGATGACTTTGTTTTGGTGCCACACAACATCTCGTCAGACCACTCAT___GTGATATGCCAGTGGGGACTGCTGGCAGACGTGCTTCAAATGAATTCTTGGTGTGTGGAGG___GCAGTGTCAGCCTACTGTGTCACCTCACAGCGAAACAGCACCAATTCCAGTTCCTACTCAAATAAGGAATTATCAGCGCATAGAGCAGAATCTTACATCTACTGCCAGCTCAGGCACAAATGTACATGGTTCTCCAAG___ATCTGCAGTGGTACGAAGGTCCAACACCAGCCCCATGGGCTTCCTCCGGCCGGGATCATGCTCCCCAGTACCAGCAGACACAGCACAGACAGTTGGACGAAGGCTCTCCACTGGGTCTTCTAGGCCTTACTCACCTTCCCCTTTGG___TTGGTACCATTCCTGAGCAATTCAGTCAGTGCTGCTGTGGGCATCCTCAGGGCCATGACTCCAGGAGTAGAAACTCCTCAG___GTTCTCCAGTGCCACAAGCTCAGTCCCCACAGTCTCTCTTATCGGGTGCTAGACTGCAGAGCGCCCCCACCCTCACTGACATCTATCAGAACAAGCAGAAGCTCAGAAAACAGCACTCTGACCCCGTGTGCCCATCCCATACTGGGGCTGGGTACAGCTACTCGCCTCAGCCCAGTCGGCCTGGCAGCCTTGGAACTTCTCCCACCAAGCACTTGGGGTCCTCTCCACGGAGTTCTGACTGGTTCTTTAAAACTCCTTTGCCAACAATCATTGGCTCTCCTACTAAG___ACCACAGCTCCTTTCAAAATCCCTAAAACTCAAGCATCTTCCAACCTGTTAGCCTTGGTTACTCGTCATGGGCCTGCTGAAGAACAGTCGAAAGATGGGAATGAGCCACGGGAATGTGCCCATTGCCTCTTAGTGCAAGGAAGTGAGAGGCAGCGGGCCGAGCAGCAGAGCAAGGCAGTGTTTGGCAG___ATCTGTCAGTACCGGGAAGTTATCAGATCAACAAGGAAAGACTCCTATATGTCGACATCAGGGCAGCACAGACAGTTTAAATACAGAACGACCAATGGATATAG___CTCCGGCAGGAGCCTGTGGTGGTGTTCTGGCACCTCCTGCAGGTACAGCAGCAAGTTCCAAGGCTGTCCTCTTCACTGTAGGGTCTCCTCCACACAGTGCGGCAGCCCCCACTTGTACCCACATGTTCCTTCGAACAAGAACAACCTCAG___TGGGGCCCAGCAACTCCGGGGGCTCTCTTTGTGCCATGAGTGGCCGCGTGTGCGTGGGGTCCCCGCCTGGCCCAGGCTTCGGCTCTTCCCCTCCAGGAGCAGAGGCAGCTCCCAGCCTGAGATACGTGCCTTACGGTGCTTCACCCCCCAGCCTAGAGGGGCTCATCACCTTTGAAGCCCCTGAACTGCCGGAGGAGACGCTGATGGAG___CGGGAACACACAGACACCTTACGCCATCTGAATGTGATGCTGATGTTCACTGAGTGTGTGCTGGACCTGACAGCCATGAGGGGAGGAAACCCTGAGCTGTGCACATCTGCTGTGTCCTTGTACCAGATCCAGGAGAGTGTGGTGGTGGACCAGATCAGTCAGCTGAGCAAAGACTGGGG___GCGGGTGGAGCAGCTGGTGTTGTACATGAAAGCAGCACAGCTGCTTGCGGCTTCTCTGCATCTTGCCAAAGCCCAGATCAAGTCCGGGAAACTGAGCCCATCCACAGCTGTGAAACAAG___TTGTCAAGAATCTGAACGAACGATATAAATTCTGCATCACCATGTGCAAGAAACTTACAGAAAAGCTGAATCGATTCTTCTCTGACAAACAGAGGTTTATTGATGAAATCAACAGTGTGACTGCAGAGAAACTCATCTATAATTGTGCTGTAGAAATG___GTTCAGTCTGCAGCCCTGGATGAGATGTTTCAGCAGACCGAAGATATTGTTTATCGCTATCATAAGGCAGCCCTTCTTTTGGAAGGCCTAAGTAGGATTCTACAGGACCCTGCAGATAT)TGAAAATGTGCATAAAT___ATAAATGTAGTATTGAGAGAAGACTGTCGGCGCTCTGCCATAGCACCGCAACCGTGTGAGCAGCAGGCTCATCCCGTGGACCGGTGGTGGGAACGTGAG|GTGGTTGAAGATTATGCTGGAAGATGGCAGGTCCCTTTGCCACAGCTTCAGGTTCTTCAGACTGCCCTTTGTTGTTTTACAACAGCCAGTGCATCATTCCCAGATGAATGTGAGCATGTACAATATGTTTTGAG(TAGCCTTGCTGT___GAGTTTCTTTGAGTTGCTGCTGTTCTTTGGAAGAGATGAGTTTTATGAAGAGCCCTTAAAGGATATTCTTGGATCATTCCAG___GAATGCCAGAATCACCTCCGCAGATATGGAAATGTGAATCTGGAACTGGTGACTCGAATCATTAGAGATGGTGGCCCATGGGAAGATCCAGTGTTGCAAGCTGTCCTTAAAGCTCAGCCAGCATCTCAGGAGATAG___TGAACAAATATTTAAGTTCTGAAAATCCACTGTTCTTTGAACTACGTGCCAGATACCTAATTGCTTGTGAACGCATACCCGAAGCAATGGCTCTTATTAAATCTTGTATAAATCACCCAGAAATCAGTAAAGACTTATACTTCCATCAAGCACTCTTCACATGTCTGTTTATGTCACCTGTAGAAGATCAGCTATTCCGGGAG___CATTTATTGAAAACTGATTGTAAGAGTGGAATTGATATCATCTGTAATGCTGAAAAAGAAGGCAAAACTATGTTAGCCTTGCAACTCTGTGAATCCTTTCTTATTCCACAGCTCCAGAATGGGGATATGTACTGTATCTG___GGAGTTGATTTTCATATGGAGTAAACTACAGCTTAAATCTAATCCTTCAAAACAAGTTTTTGTAGATCAATGCTACCAGCTTTTAAGAACAGCAACTAATGTGAGAGTCATATTTCCTTTCATGAAAATCATCAAAGATGAG___GTTGAAGAAGAAGGCTTGCAAATTTGTGTTGAAATATGTGGTTGTGCTCTACAACTCGACCTTCATGATGATCCCAAAACTAAATGTCTAATTTATAAAACAATTGCACATTTTTTGCCAAATGATTTGGAGATCCTCAGGATTTGTGCACTCTCAATATTTTTTCTGGAGCGCTCCTTAGAAGCGTATCGTACTGTTGAAGAGCTTTACAAACGTCCAGATGAAGAATATAATGAAGGCACAAGTAGTGTTCAAAATCGTGTTCGTTTTGAATTGCTTCCAATTTTGAAAAAGGGATTGTTTTTTGACCCTGAATTTTGGAACTTCGTAATGATTAAGAAAAACTGTGTAGCATTATTGAGTGATAAATCAGCAGTTAGATTTCTAAATGAAAGCACACTGGAAAATAATGCAGGTAATCTAAAAAGGACGGAGGAACAGCAAGGTTTGGATGAAGGGTTTGACTCTCTTACAGATCAGAGCACTGGAGAGACTGATCCTGATGATGTATCTGGAGTGCAGCCTAAAGGTCATATTAATACGAAGAAAAATCTTACAGCTCTCAGTACTTCCAAAGTAGATCACAATGTCCCAAGGCATCGTTGTATGTTATGTAACAAGGAATTTTTAGGTGGTCACATTGTAAGGCATGCCCAGGCTCATCAGAAAAAAGGCAGTTTTGCATGTGTAATATGTGGTAGGAAATTTAGAAACAGAGGACTTATGCAGAAGCATTTGAAGAATCATGTTAAGAAGATACAGAGGCAGCAAATTGCTGCAGCTCAACAGGATGATCAGGAAGTCACTGCTTTGGAAGAAATAAATTGTTCTAGTTCTTCCATTTCATTTGAAAATGGGAATTCTGATAGTAAGGATTTGGAAGTGGAGACACTTACTGCTTCTAGTGAAGGAAACAAAGAAGTCATCCCTGAGCATGTGGCTGAATTCATTGAAATTCCCATAAGTGTACCAGAAGATGTTATTGAAAATGTTATTGAAAATGGCAGTCCTAATAATTCTTTAAATAATGTTTTCAAGCCTTTAACTGAATGTGGGGATGATTATGAGGAGGAAGAGGATGAAGAAGGTGATTATGAAGAAGATGATTATGACCTGAATCAAGAAACTTCAGTAATTCATAAAATCAATGGAACTGTGTGCCATCCAAAAGACATATATGCCACAGATCAAGAAGGAAACTTTAAGTGTCCTGCTCTTGGTTGTGTCCGGATATTTAAAAGAATTGGGTTTCTAAATAAACATGCAATGACCGTACATCCAACCGATTTAAATGTGCGACAAACAGTAATGAAGTGGAGCAAAGGAAAATGCAAATTTTGTCAAAGGCAATTTGAAGATTCTCAACATTTTATAGACCACCTTAATAGACATAGCTATCCAAATGTGTATTTTTGTTTGCATTTTAATTGCAACGAGTCGTTTAAGCTGCCGTTCCAGCTTGCCCAGCACACAAAAAGTCACAGGATATTTCAGGCTCAGTGTAGTTTTCCAGAATGCCATGAGCTTTTTGAAGATCTTCCTCTGCTGTATGAACATGAAGCTCAACACTATTTAAGTAAAACACCAGAGTCATCTGCACAACCAAGTGAAACAATTCTTTGGGATGTTCAGACAGACTCAAATCCTAATCAGGAAAAAGACTCATCTAGTAATGAGAAACAAACTATTAGTCTGCCAGTTTCTACTAGCAAATCAAGGAAAGAGTCTACAGAACCAAAGACATGTATAGAAAGTATGGAAAAGAAAACAGACAGTTTAGTTCAGAATGGAAACGAACGTTCTGATGACACTGTTTCAAATATAAGCTTGATAGACCAAAAGATGCCTGACATAGAGCCAAATTCTGAAAATAATTGTAGTAGTAGTGATATAGTCAATGGACACAGTGAAATAGAGCAAACACCTTTAGTTTCATCAGATCCTGCTTTGAAAATTGATACAAACAGAATCAGGACAGAAAATGGTTCCATTTTGCCCAGTGTTGTACCACAAGAACACAACACCTTGCCAGTATCTCAGGCACCTTCCAAACCAAATCTGACAAGTGAACATACTTCATATGGCTTAATTTTAACAAAACCATACGTCAGACCATTGCCTCCCAGTTACCTTGATGAACGGTATCTTAGTATGCCAAAACGCAGAAAATTTCTGACTGATAGAGTAGATGCCTGTTCTGATCAAGATAACGTGTATAAAAAATCAGTGAAAAGATTAAGATGTGGCAAATGCCTGACCACCTACTGTAATGCAGAAGCACTTGAGGCTCATCTTGCACAAAAGAAATGTCAGACACTCTTTGGATTTGATTCAGATGATGAAA___GTGCCTGATGAAAACGGTTCAGAAAGATCTGTCAATCAAGCAGTAGTGTGAAAAAAGCACTATAAGAAAATGCATCATCAGTTTGCTATTTCCCTGATGGCCTTAATTTTAGAGTGGTCTTGGATTACTAAAGATAAAGACAAAGCACATTTTCTAGAATGAACTCACAGAGATGTGCTGGCTTAGACTCCAAAAGGATTATAAAACTCCCAAAGTACCAGTTTTCCAGAAAACCACATTTTACAGTTTATGATGATTAATAGCAGCAGCATGTTCAGTTTCGCTTATATGAGAAACATGTTTAGGCAACTAGTCAGAAAACCAGCTATGGCCTTACAGAAAGGGAAAAATTAACCCATTATTAAAAAGTGTGTGTGGGGAGGGGGGCTGGTTTACAATATTAAACCATTTAAAGTATTTTATTCTACAAATGGGGTTTGTTTTCTTGTCATGCATAATCAGATTATGTCCCCTCCCTTCTGGTTAAACATGGTTTAAGGAACCGCTGCTGTTTGGTTTGTGATTGATTTAGAAACTTATACATTAACTTACCACAGTGCTATCAATTAAAGATTGTAACAGGTTTCCAGATGATTAATTAGGTCAAAGTTCAATGAATGGCACGCCAGCATTGAAAATTAAAAAACAAAACAAAAAAAACCACAGTGCTTTGCTAATAAGCTCTTGATAGAACCTCCCACTAACCACTTTTGTGGTACAAATTAGTTAACATTTAAAGGGCAGCAGTGTCAATAAAATAGAAAAAAACCGATCAGTACTCTGGGGAGAGATGAAAGGAATCTAAGACTTTACAGGCTTTGTAGTTGAAGGAAAACACTGAATTGCAAATTATTCAATGTGAATAATGGTAAAAGCACACTGGGATACTTCTGTTTGTGTATATGTTGGGACATTGCTTGATGATTCATAGTAAGGTCCTTTAGACATTAATGTGAGTTATCTAAGTACAGTCCTATTAAAATAACTGGCTCAAAAAATCAGCTAAGAATCAGGTTGAGAAATCATTCATTTTATTCTATTAGGAGAGGTAATTCCAAAATAAGCCATACTATTCCTGTTTTTTTAATTCATTAGTGATGACTCTGGTCTGAACAGTAATTTTTATATGTAAAAGGAAGTATTTACACAAAACATTTGCACAAGAACACAGTAAGAGATACATTCAAGCATTGTTTTCCTTAGTGATGTTATTTTCCTAAGAAGATTTTAACTTAATAAAGTGTTAAAACAATAAATATTTTTAAAAATACCCTCTCAGATGTTTTCCATTTGTCCATTATTGAAAGGAAGATGCTTAAAGACTTCCTTTTACTAATAGTGTGTAAATCTAAAACAGGGATTAAAATAACAAAAAGGCAGTGTTTCAAAACAGATCTCCTAATGTCCCAATGTCAAATATTCCAGTTATTCTAAATAATAAAATCTTTGTTCAAGGCAGATAATCTCATCAGACCCTATTAGAGCTTCTTGAATGAGGCTATTACGGAAGTGGGGAATTTCTTCCAGGTAGCATCCATATTTTATTAAATTAGGATTTCCAGATCATGATAGATCAGATGATTTTTTTTTAATTTCCCGGTTTTATTGGTTTATCATCAGCATTCACTACTATGCAATGATGGTCATAAGTCCATTCCAAATTTAAATTTGTTTCTGTTATGTAGCCTATATTAGGCTGTGGAATTTACATTTAGGTAACTAAACACAGCTCATAATTAAAATCTTTTCTTTAAGGTCAGCTAAAAAAAATGTTTCCTGTATTTCTTGATACTAAAAATGTAATGATTTTTATTTTAGTTCATTCTAAAAGTATGTCTTGTAATAAAAAGTCTGTTTGGAAACTGGTTCATTTGGACAGTGAAGTCTTTTGAAATATTTCTGCTTTGTACATTTTCCAGAAGTTTAATATTTTATCACATTTTCCACAAGTTGTAACAATTGATATAAATCCATGCCCACAAAGTATTCCATTTTCATTACTTTTACTGTTCATGCCAAGATGTTTCAAATATATTCCATTTGTAATCTGTCTTTAACTTGAGGTTTATTTCTACTTTTGTGTTGCTAAAATTATTTCTGCAAGACTGAGATCAAACTGGTTTATATATAACTAAATCAAGGAATGTTTTATAAAATTCTATTTGACCACACTGTCTTAACCTCGGTTTATATACTTCTCAAATAGCTATTGAAAGAATGTGTTCATTTTATTACATCTGTCTTTTAAAACATAAACCTACATCATTTTGCTTTTATAGGGTGCATAAACTTCCAACAGTTCTAATTTGAGCGCTTCAGAAGAAAAGGAAGCTTGCTTCTTATTCCTCAGATTCTTCTTTTTTTCTGTTTTGAGGATGTATTCATCCTACATGGACCAAGTTTCAAATCTTTGTTTTTAAATAAAAATTTCCTTCAAAAAATTAAATGTTAAATTTCTGCTGTGTGTCAGTAAGGTGAAGAAAATAGCAAATCTGAATTTTTGCTGCTCAGATATTATGGAGGAGGTAAAAAGGGGAATCTCCGTGGACAAGGACACTGGTACTTTGGGCTTTAGCCATATTCATTTTTTTGAAACCACCAATTATATAATACTTAAATAATTTATATCATTGAACTTGTGATTCTTTTCAAATCACACTGAAGGTTCAGCCGTACTCCTTTCATGTTTGGTTTAATACTGTTGTATGGATGAAAAACCTAAAAGGGATGATAGTGTTTATTTTTTAATTTATTTGGTACTGTAAAACACCTTTTCAGAATGAGTAAATGCTGCATATGCATTTTGGAGTTGTTAATATGTGAAAGATATTACAGATTCAGCAAGAAAGGAAATTTGTGCTTCCTTGTTGAATGTTAAATTATTTTACTTTGCATTTTATAAGAGTACAAATTAAAACTGAGCCATTGAACTGCAATAAATCAACAATAGTGTCTCATTTCAAGAAATTTTTTGTACTGTACATAGATTTGTTCAATAAAACGTCCTTGTTGGTAA)$ . 01BR030 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 2 0 1 142 13 high . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000561058.5 upstream downstream duplicates(1) CACTCCTGAATGTGGCAGGTCCGTGTCTGGACCGAGGAGCCCTCACATCGGTTGTTGAGGCTATCGCAGGAGCGGCCGCGCTGCTGAATTCCATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCA(TTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 01BR030 ENSG00000196411.10 ENSG00000091831.23 -/- +/+ chr7:100819401 chr6:151994155 intron intron translocation 3 3 0 43 54 medium stop-codon . Ephrin_receptor_ligand_binding_domain(100%),Fibronectin_type_III_domain(100%),Putative_ephrin-receptor_like_(100%)|Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Oestrogen-type_nuclear_receptor_final_C-terminal_(100%),Oestrogen_receptor(100%) . . ENSG00000196411.10 ENSG00000091831.23 ENST00000358173.8 . upstream upstream . ^(AGTTCCAGCGCAGCTCAGCCCCTGCCCGGCCCGGCCCGCCCGGCTCCGCGCCGCAGTCTCCCTCCCTCCCGCTCCGTCCCCGCTCGGGCTCCCACCATCCCCGCCCGCGAGGAGAGCACTCGGCCCGGCGGCGCGAGCAGAGCCACTCCAGGGAGGGGGGGAGACCGCGAGCGGCCGGCTCAGCCCCCGCCACCCGGGGCGGGACCCCGAGGCCCCGGAGGGACCCCAACTCCAGCCACGTCTTGCTGCGCGCCCGCCCGGCGCGGCCACTGCCAGCACGCTCCGGGCCCGCCGCCCGCGCGCGCGGCACAGACGCGGGGCCACACTTGGCGCCGCCGCCCGGTGCCCCGCACGCTCGCATGGGCCCGCGCTGAGGGCCCCGACGAGGAGTCCCGCGCGGAGTATCGGCGTCCACCCGCCCAGGGAGAGTCAGACCTGGGGGGGCGAGGGCCCCCCAAACTCAGTTCGGATCCTACCCGAGTGAGGCGGCGCCATGGAGCTCCGGGTGCTGCTCTGCTGGGCTTCGTTGGCCGCAGCTTTGGAAG___AGACCCTGCTGAACACAAAATTGGAAACTGCTGATCTGAAGTGGGTGACATTCCCTCAGGTGGACGGGCAG___TGGGAGGAACTGAGCGGCCTGGATGAGGAACAGCACAGCGTGCGCACCTACGAAGTGTGTGACGTGCAGCGTGCCCCGGGCCAGGCCCACTGGCTTCGCACAGGTTGGGTCCCACGGCGGGGCGCCGTCCACGTGTACGCCACGCTGCGCTTCACCATGCTCGAGTGCCTGTCCCTGCCTCGGGCTGGGCGCTCCTGCAAGGAGACCTTCACCGTCTTCTACTATGAGAGCGATGCGGACACGGCCACGGCCCTCACGCCAGCCTGGATGGAGAACCCCTACATCAAG___GTGGACACGGTGGCCGCGGAGCATCTCACCCGGAAGCGCCCTGGGGCCGAGGCCACCGGGAAGGTGAATGTCAAGACGCTGCGTCTGGGACCGCTCAGCAAGGCTGGCTTCTACCTGGCCTTCCAGGACCAGGGTGCCTGCATGGCCCTGCTATCCCTGCACCTCTTCTACAAAAAGTGCGCCCAGCTGACTGTGAACCTGACTCGATTCCCGGAGACTGTGCCTCGGGAGCTGGTTGTGCCCGTGGCCGGTAGCTGCGTGGTGGATGCCGTCCCCGCCCCTGGCCCCAGCCCCAGCCTCTACTGCCGTGAGGATGGCCAGTGGGCCGAACAGCCGGTCACGGGCTGCAGCTGTGCTCCGGGGTTCGAGGCAGCTGAGGGGAACACCAAGTGCCGAG___CCTGTGCCCAGGGCACCTTCAAGCCCCTGTCAGGAGAAGGGTCCTGCCAGCCATGCCCAGCCAATAGCCACTCTAACACCATTGGATCAGCCGTCTGCCAGTGCCGCGTCGGGTACTTCCGGGCACGCACAGACCCCCGGGGTGCACCCTGCACCA___CCCCTCCTTCGGCTCCGCGGAGCGTGGTTTCCCGCCTGAACGGCTCCTCCCTGCACCTGGAATGGAGTGCCCCCCTGGAGTCTGGTGGCCGAGAGGACCTCACCTACGCCCTCCGCTGCCGGGAGTGCCGACCCGGAGGCTCCTGTGCGCCCTGCGGGGGAGACCTGACTTTTGACCCCGGCCCCCGGGACCTGGTGGAGCCCTGGGTGGTGGTTCGAGGGCTACGTCCTGACTTCACCTATACCTTTGAGGTCACTGCATTGAACGGGGTATCCTCCTTAGCCACGGGGCCCGTCCCATTTGAGCCTGTCAATGT)CACCACTGACCGAGAGGGTGAGACTTGGGGGCTGGGGCGGCTGGTGGTCTGGCGGGAGAGATGTCACTGAGGGCCTGAAGGGGAGAGGCAGGGGCTGTGAAGTTGGGTACCCCGGAAGTGTGAGGGGCTAAGGCTTTGGGGGCAAGAGGCAGAAAGAGGGCAATGGCTGaGC|c|AcTTTGAGAGTACTCAGTTTGAATTTTACATGTTCCGTGGATATGGTTTATGCCAAATACCTTCTCCTTTCTAGACCTCAGTTTCCTCATGTATCAAACAAGTGGACTGCACTATACAACTCTGAGGTCCCTTCTAGCCTGAAGATTAGAGTCTTTTATGCCCACATGATATGGAAAACATTAATGCTGGCTCTTTAAGACTGGAACCTTGTCATTTAAAAAAATAAGCTCTACT . 01BR030 ENSG00000123124.14 ENSG00000104267.10 +/+ +/+ chr8:86381629 chr8:85480670 CDS/splice-site CDS/splice-site duplication 2 3 0 232 745 medium out-of-frame . C2_domain(100%)|Eukaryotic-type_carbonic_anhydrase(100%) . . ENSG00000123124.14 ENSG00000104267.10 ENST00000517970.6 ENST00000285379.10 downstream upstream . ^(ATTCCGGGTCCGGAGTTGGAGGCTTTGGGCGGCCGCGGCGTAGCGCGCGGTGCCGGGGCCGGCGGGGAGGCGCGCGCTTAGGGCGCGGCGCCGGCGACGCGGCCACGCGGCGCGCTCCCGAGGAAGGGAGGTGTGGGGTCGGCTGGGGGTGGCGCGTGGACGGGGTGGGGGTGGGGGGAGGGTCGGGTGTCGGCGAGCTCCGCGTGCGGGTTCCGAGTGGCTGCTGGCGGCCTGGGCTGCCGGGGCCGACGCCTGGGTGGCTGCTGCCGCCGCGCCTGCTGCGAGATGGCGATCTTGGGCGCGGAAGGGTGAGGGCGCCCGCCGCAGGAGGAGGTGCCGCTGCCGTGGCCGCCCGGCTGCCGGGAGCCGACAGCTTCGCGCCGG___GGTTGTCTCCTCACAGACTATGAGCTCCTTGAAAGAGGGAATCGTGTCTTACTCATCTTTGTATCCCCAGTGTCTAGCAGTTCCTGATACATA___GTTTTAGCTGAATTTTGGGACATGGCCACTGCTTCACCAAGGTCTGATACTAGTAATAACCACAGTGGAAGGTTGCAGTTACAGGTAACTG___TTTCTAGTGCCAAACTTAAAAGAAAAAAGAACTGGTTCGGAACAGCAATATATACAGAAGTAGTTGTAGATGGAGAAATTACGAAAACAGCAAAATCCAGTAGTTCTTCTAATCCAAAAT)GGGATGAACAGCTAACTGT___AAATGTTACGCCACAGACTACATTGGAATTTCAAGTTTGGAGCCATCGCACTTTAAAAGCAGATGCTTTATTAGGAAAAGCAACGATAGATTTGAAACAAGCTCTGTTGATACACAATAGAAAAT|GTGTTGAAATTCCGTAAACTTAACTTCAATGGGGAGGGTGAACCCGAAGAACTGATGGTGGACAACTGGCGCCCAGCTCAGCCACTGAAGAACAGGCAAATCAAAGCTTCCTTCAAATAAGATGGTCCCATAGTCTGTATCCAAATAATGAATCTTCGGGTGTTTCCCTTTAGCTAAGCACAGATCTACCTTGGTGATTTGGAC(CCTGGTTGCTTTGTGTCTAGTTTTCTAGACCCTTCATCTCTTACTTGATAGACTTACTAATAAAATGTGAAGACTAGACCAATTGTCATGCTTGACACAACTGCTGTGGCTGGTTGGTGCTTTGTTTATGGTAGTAGTTTTTCTGTAACACAGAATATAGGATAAGAAATAAGAATAAAGTACCTTGACTTTGTTCACAGCATGTAGGGTGATGAGCACTCACAATTGTTGACTAAAATGCTGCTTTTAAAACATAGGAAAGTAGAATGGTTGAGTGCAAATCCATAGCACAAGATAAATTGAGCTAGTTAAGGCAAATCAGGTAAAATAGTCATGATTCTATGTAATGTAAACCAGAAAAAATAAATGTTCATGATTTCAAGATGTTATATTAAAGAAAAACTTTAAAAATTATTATATATTTATAGCAAAGTTATCTTAAATATGAATTCTGTTGTAATTTAATGACTTTTGAATTACAGAGATATAAATGAAGTATTATCTGTAAAAATTGTTATAATTAGAGTTGTGATACAGAGTATATTTCCATTCAGACAATATATCATAACTTAATAAATATTGTATTTTAGATATATTCTCTAATAAAATTCAGAATTCTA)$ MATASPRSDTSNNHSGRLQLQVTVSSAKLKRKKNWFGTAIYTEVVVDGEITKTAKSSSSSNPKWDEQLTVNVTPQTTLEFQVWSHRTLKADALLGKATIDLKQALLIHNRK|cveip* 01BR030 ENSG00000119321.9 ENSG00000287519.1(9321),ENSG00000127947.16(29009) -/- ./+ chr9:113178576 chr7:77508286 intron intergenic translocation 1 2 0 6 4 medium stop-codon . FKBP-type_peptidyl-prolyl_cis-trans_isomerase(100%)| . . ENSG00000119321.9 . ENST00000446284.6 . upstream upstream . ^(GACGTCGGCGGTGACAGGCCCTGGGACTCTGGGAATACCCAGCTTCCTCCCCGCAACCCGGTGAAAGCCAACGCAATGTTCGGTGCGGGGGACGAGGACGACACCGATTTCCTCTCGCCGAGCGGCGG___TGCCAGATTGGCCTCACTTTTTGGACTGGATCAGGCAGCTGCTGGCCATGGAAATGAATTTTTCCAGTACACAGCCCCAAAACAGCCTAAGAAAGGCCAGGGAACGGCAGCAACAG___GAAATCAGGCAACACCAAAAACAGCACCAGCCACCATGAGCACTCCCACAATACTGGTCGCAACAGCAGTCCATGCATATCGATA___CACAAATGGTCAATATGTAAAGCAGGGCAAATTTGGTGCTGCAGTTCTGGGGAACCACACAGCCAGAGAG___TATAGGATTCTTCTTTATATCAGTCAACAACAGCCAGTTACGGTTGCTAGGATTCATGTGAACTTTGAGCTAATG___GTTCGGCCCAATAACTATAGCACCTTTTATGATGACCAGAGACAGAACTGGTCCATCATGTTTGAGTCGGAAAAGGCTGCTGTGGAGTTCAATAAGCAG___GTGTGCATTGCTAAGTGCAACAGTACCTCTTCCCTGGATGCAGTGCTCTCCCAGGACCTCATTGTGGCAGACGGCCCTGCTGTAGAAGTTGGAGATTCTTTGGAAGTGGCCTATACCGGCTGGCTCTTTCAGAATCATGTGCTGGGCCAG___GTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAG___GGCTGGGAGGATGGAATGCTGGGCATGAAAAAAGGAGGAAAGCGATTGCTTATTGTCCCTCCAGCCTGTGCTGTTGGCTCAGAAGGGGTAATAGGCTGGACTCAAGCAACGGACTCGATCCTGGTGTTCGAGGTGGAGGTTAGGCGG___GTGAAGTTTGCCAGAGATTCTGGCTCTGATGGTCACAGTGTTAGTTCCCGCGATTCTGCAGCTCCGTCTCCCATCCCTGGTGCTGACAACCTCTCTGCTGATCCTGTTGTGTCACCACCCACATCAATACCTTTCAAATCAGG___GGAGCCAGCTCTTCGTACCAAATCTAACTCCCTCAGTGAACAACTTGCAATAAATACA___AGTCCCGATGCAGTCAAAGCCAAGTTGATCTCTCGGATGGCTAAAATGGGCCAGCCCATGCTGCCCATCCTTCCACCACAGCTGGATTCCAATGATTCAGAAATCGAA___GATGTGAACACTCTGCAAGGAGGTGGGCAGCCTGTGGTGACTCCGTCCGTCCAGCCCTCTCTTCATCCGGCCCATCCAGCGTTACCACAGATGACCTCACAGG___CACCTCAGCCATCTGTTACTGGGCTCCAGGCACCTTCTGCTGCCTTAATGCAAGTGTCATCTCTCGATTCCCACTCAGCTGTATCTGGAAATGCCCAATCCTTTCAG___CCCTATGCAGGTATGCAAGCCTACGCTTATCCCCAGGCATCTGCCGTCACCTCCCAGCTGCAGCCCGTTCGGCCTTTGTACCCAGCACCGCTCTCTCAGCCTCCCCATTTCCAAG___GATCAGGTGATATGGCTTCATTTCTCATGACTGAAGCCCGGCAACATAACACTGAAATTCGAATGGCAGTCAGCAAAGTGGCTGATAAAATGGATCATCTCATGACTAAG___GTTGAAGAGTTACAGAAACATAGTGCTGGCAATTCCATGCTTATTCCTAGCATGTCAGTTACAATGGAAACAAGCATGATTATGAGCAACATCCAGCGAATCATTCAG___GAAAATGAAAGATTGAAGCAAGAGATCCTTGAAAAGAGCAATCGGATAGAAGAACAGAATGACAAGATTAGTGAACTAATTGAACGAAATCAGAG___GTATGTTGAGCAGAGTAACCTGATGATGGAGAAGAGGAACAACTCACTTCAGACAGCCACAGAAAACACACAGGCAAGAGTATTGCATGCTGAACAAGAGAAG___GCCAAGGTGACAGAGGAGTTAGCAGCGGCCACTGCACAGGTCTCTCATCTGCAGCTGAAAATGACTGCTCACCAAAAAAAGGAAACAGAGCTGCAGATGCAGCTGACAGAAAGCCTGAAGGAGACAG)ATCTTCTCAGGGGCCAGCTCACCAAAGTGCAGGCAAAGCTCTCAGGTATGTGCTAGGTGGGGGATGCTGGGATTGTTGCCATTTAAACTCAAGGAATT|g|GCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAACAAAAAAACAACCCCATTAAAAAATGGTCGAGTTTCCATGGTGAGATGGTCAACAAGCCTGTAAGTTCCTCAGCTACGACTACCAGGcAC . 01BR030 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 3 0 0 192 13 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___)ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGC(CTGTCACTTCAAAGTCACCAGTGTCAAG___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 01BR030 ENSG00000096070.19 ENSG00000185420.19 +/+ -/+ chr6:36211560 chr1:245825821 CDS/splice-site intron translocation/5'-5' 1 1 0 28 1 medium out-of-frame . Bromodomain(100%),Enhancer_of_polycomb-like(100%),PHD-finger(100%),PHD-zinc-finger_like_domain(100%)| . . ENSG00000096070.19 ENSG00000185420.19 ENST00000357641.10 . downstream upstream . ^(GTGGCGGCAGCGGCAGCAGCGGCGGCTCCATTCCCCCTCCTCCCCCGGGAGCGGCGGCGGCGGCCGGGCCGGGGCCCCAGCGCGGGCCGGGAGGGGGCACGGCGGAGGCCACGGAGGCAGGCGCGGGAGAAGACCGCGCTCCGCTTCCCGGGCCGCGCCGACCTGCTCGGCGGCCTGCCCGCCCGCGCCCAGGGGCCCCGAACGGTGGGGCCGGGCAGGCGGCTGAG___GCCTGTCCCCTCAGTTCCCAGGTGCCATGAGGAAGCCTCGTCGGAAGTCCCGGCAGAATGCCGAGGGCCGGCGTTCCCCGTCCCCCTACAGTCTCAAGTGCTCACCCACCCGGGAGACCCTGACATATGCCCAGGCCCAGCGGATTGTCGAGGTAGACATTGATGGACGCCTGCATCGTATCAGCATCTATGACCCACTCAAAATCATTACTGAAGATGAGCTAACTGCCCAGGATATCACCGAATGCAATAGTAACAAGGAAAACAGTGAACAGCCTCAGTTCCCTGGCAAGTCCAAGAAACCCTCATCCAAGGGCAAAAAGAAGGAATCCTGCTCCAAGCATGCATCTGGTACTTCCTTCCACCTCCCACAGCCCAGCTTCCGTATGGTGGACTCAGGCATCCAGCCAGAAGCACCCCCGCTGCCTGCTGCCTACTACCGCTACATTGAGAAGCCACCTGAAGACCTGGATGCAGAGGTAGAGTATGACATGGATGAGGAGGACCTTGCCTGGCTGGACATGGTGAATGAAAAACGGCGAGTAGATGGGCACAGTTTGGTGTCTGCAGATACCTTTGAGCTGCTGGTAGACCGGCTTGAGAAAGAGTCATACTTGGAGAGTCGCAGCAGTGGGGCCCAACAGTCACTCATCGATGAAGACGCTTTCTGCTGTGTGTGCCTGGATGATGAATGTCACAATAGCAATGTTATTCTCTTCTGTGACATCTGCAACCTGGCTGTACACCAGGAGTGCTATGGCGTCCCATACATCCCTGAGGGCCAGTGGCTATGCCGCTGCTGCCTGCAGTCTCCCTCCCGGCCTGTGGATTGCATCCTTTGCCCCAATAAGGGTGGCGCCTTCAAACAGACCAGTGATGGGCACTGGGCCCATGTGGTGTGTGCCATCTGGATCCCTGAAGTCTGCTTTGCTAACACCGTGTTCTTGGAACCTATTGAGGGCATTGACAATATCCCGCCTGCCCGCTGGAAACTAACCTGCTATATCTGCAAGCAGAAAGGGCTAGGTGCAGCCATCCAGTGCCATAAGGTGAACTGCTACACAGCATTCCATGTGACATGTGCACAGCGGGCTGGGCTCTTCATGAAGATTGAGCCCATGCGCGAAACCAGCCTCAATGGCACCATCTTTACAGTGCGCAAGACTGCCTACTGTGAGGCCCACTCGCCACCAGGTGCGGCCACTGCTAGGAGGAAGGGCGACTCCCCTAGAAGCATCAGTGAGACTGGCGATGAGGAAGGGCTGAAGGAGGGTGATGGAGAGGAGGAAGAAGAGGAAGAGGTGGAGGAAGAAGAGCAGGAAGCTCAAGGCGGGGTGAGTGGCTCCCTCAAGGGAGTGCCCAAGAAAAGCAAGATGAGTTTGAAGCAGAAGATCAAGAAGGAGCCAGAGGAAGCAGGCCAAGACACACCCTCCACTCTCCCCATGCTTGCTGTCCCACAGATACCCTCTTACAG___GTTGAACAAGATCTGTAGTGGTCTCTCCTTTCAGAGGAAAAACCAGTTTATGCAGCGGCTTCACAATTATTGGCTGTTGAAGCGGCAGGCACGGAATGGTGTCCCTCTTATCCGGCGCTTGCACTCCCATCTGCAGTCCCAAAGAAACGCTGAGCAG___CGAGAGCAGGATGAGAAGACAAGTGCAGTGAAGGAGGAGCTGAAGTATTGGCAGAAGCTCCGGCATGACTTGGAGCGGGCGCGGCTGCTGATTGAGCTGATTCGGAAGAGAGAGAAGCTCAAACGAGAGCAG___GTCAAAGTCCAGCAGGCTGCCATGGAGCTGGAGCTGATGCCATTCAATGTTCTGTTGAGGACAACACTGGACCTGCTGCAGGAGAAGGATCCTGCACACATCTTCGCAGAACCAGTCAACTTGAGTGAG___GTTCCAGATTACCTGGAATTCATATCCAAGCCAATGGATTTTTCTACTATGAGGCGGAAGCTGGAGTCCCACCTGTACCGCACCTTGGAGGAGTTTGAGGAGGACTTTAACCTTATAGTTACCAACTGCATGAAGTATAATGCTAAAGACACAATTTTCCACCGAGCAGCTGTCCGCCTGCGGGACCTGGGAGGGGCCATCCTACGGCACGCCCGGCGGCAGGCAGAGAACATCGGCTATGACCCCGAGAGGGGCACTCACCTGCCCGAGTCACCCAAATTGGAAGACTTTTACCGCTTCTCCTGGGAAGACG___TGGACAACATCCTCATCCCAGAGAACCGGGCCCATTTGTCCCCAGAGGTGCAGCTGAAGGAGCTGCTGGAGAAACTGGACCTGGTGAGCGCCATGCGGTCCAGTGGG)GCCCGCACCCGTCGTGTCCGCCTGCTACGCCGGGAGATCAATGCCCTTCGGCAGAAGCTGGCACAGCCACCACCACCACAGCCACCATCACTCAACAAGACAGTATCCAATGGGGAGCTGCCAGCAGGGCCCCAGGGGGATGCAGCTGTGCTGGAGCAGGCCTTGCAGGAGGAGCCAGAAGACGATGGGGACAGAG|AAATCTAAAGTTTAGAAGAATTAAGTAACTTGCCCAAGGTCACTGCCTGAGTAAT MRKPRRKSRQNAEGRRSPSPYSLKCSPTRETLTYAQAQRIVEVDIDGRLHRISIYDPLKIITEDELTAQDITECNSNKENSEQPQFPGKSKKPSSKGKKKESCSKHASGTSFHLPQPSFRMVDSGIQPEAPPLPAAYYRYIEKPPEDLDAEVEYDMDEEDLAWLDMVNEKRRVDGHSLVSADTFELLVDRLEKESYLESRSSGAQQSLIDEDAFCCVCLDDECHNSNVILFCDICNLAVHQECYGVPYIPEGQWLCRCCLQSPSRPVDCILCPNKGGAFKQTSDGHWAHVVCAIWIPEVCFANTVFLEPIEGIDNIPPARWKLTCYICKQKGLGAAIQCHKVNCYTAFHVTCAQRAGLFMKIEPMRETSLNGTIFTVRKTAYCEAHSPPGAATARRKGDSPRSISETGDEEGLKEGDGEEEEEEEVEEEEQEAQGGVSGSLKGVPKKSKMSLKQKIKKEPEEAGQDTPSTLPMLAVPQIPSYRLNKICSGLSFQRKNQFMQRLHNYWLLKRQARNGVPLIRRLHSHLQSQRNAEQREQDEKTSAVKEELKYWQKLRHDLERARLLIELIRKREKLKREQVKVQQAAMELELMPFNVLLRTTLDLLQEKDPAHIFAEPVNLSEVPDYLEFISKPMDFSTMRRKLESHLYRTLEEFEEDFNLIVTNCMKYNAKDTIFHRAAVRLRDLGGAILRHARRQAENIGYDPERGTHLPESPKLEDFYRFSWEDVDNILIPENRAHLSPEVQLKELLEKLDLVSAMRSSGARTRRVRLLRREINALRQKLAQPPPPQPPSLNKTVSNGELPAGPQGDAAVLEQALQEEPEDDGDR|ei* 01BR031 ENSG00000113407.13 ENSG00000249572.1 +/+ -/- chr5:33441143 chr5:33424146 CDS/splice-site exon/splice-site inversion 11 27 1 353 42 high out-of-frame . . . . ENSG00000113407.13 ENSG00000249572.1 ENST00000265112.7 ENST00000507251.1 downstream downstream duplicates(2) ^(GGTCAGCGGAGAGTAGGCATGTAGCTTCTGCAGTTGCTCCTCCTCACCCTCCGCGACCTGATTTCCTAGAAGGGCTCTGTCACCCGAAAAGATTTTCCACTGGCTTAGAGGAGGGAGGGCCCGCCTTCCCCCGTTATCCATTGGCTGCTCGTTCCGCCGCAAGTTGGGGGCGGGGTTAGGGCGCCTTTCGATTGCATCAGCTGGTCCAGCCGAGG)CCAAGTCCCGGGCGCTAGCCCACCTCCgACCCGCCTCTTGGCTCCTCTCCTCTAGGCCGTCGCTTTCGGGTTCTCTCATCGCTTCGTCGTTCGCCAATGTTTGAGGAGAAGGCCAGCAGTCCTTCAGGGAAGATGGGAGGCGAGGAGAAGCCG|CTCAAGATCCCAGAGGAAGAGGAGCCATCTTTCCCAGTGGCTTTAgCGGAAAAGTCCCTGAGCCAGTCACTGTGCCCACTGGAAGACAAATGGAGACTcGCCAAGCTTTGGTCATGAACTCA$ MFEEKASSPSGKMGGEEKP|lkipeeeepsfpvalaekslsqslcpledkwrlaklws* 01BR031 ENSG00000250919.1(7024),ENSG00000248763.2(14793) ENSG00000171234.14 ./+ +/+ chr4:69051602 chr4:69098540 intergenic CDS/splice-site deletion/read-through 16 13 1 144 98 high . . |UDP-glucoronosyl_and_UDP-glucosyl_transferase(100%) . . . ENSG00000171234.14 . ENST00000305231.12 downstream upstream duplicates(1) CCCCTGTGGGGGACTCCAGCCAGCCTGAGTGACATGATCCAAAGAGCCCTCCTGGGTAGGAAATTGCCCCGGTGGAATCCCTCACCAGAGAAGCAGGTAGCAGGCCCTCGCAGAGGATTAACACAGTGGCTGAACACCAGGAAGGAACTGGCACTTGGAGTCCAGACATCTAAAATTTG|GAAGACCCACTACATTATCTGAGACAATGGGGAAAGCTGACGTATGGCTTATTCGAAACTCCTGGAATTTTCAGTTTCCATATCCACTCTTACCAAATGTTGATTTTGTTGGAGGACTCCACTGCAAACCTGCCAAACCCCTGCCTAAG___GAAATGGAAGACTTTGTACAGAGCTCTGGAGAAAATGGTGTTGTGGTGTTTTCTCTGGGGTCAATGGTCAGTAACATGACAGAAGAAAGGGCC(AACGTAATTGCATCAGCCCTGGCCCAGATCCCACAAAAG___GTTCTGTGGAGATTTGATGGGAATAAACCAGATACCTTAGGTCTCAATACTCGGCTCTACAAGTGGATACCCCAGAATGACCTTCTAG___GTCATCCAAAGACCAGAGCTTTTATAACTCATGGTGGAGCCAATGGCATCTACGAGGCAATCTACCATGGGATCCCTATGGTGGGGATTCCATTGTTTGCCGATCAACCTGATAACATTGCTCACATGAAGGCCAGGGGAGCAGCTGTTAGAGTGGACTTCAACACAATGTCGAGTACAGACTTGCTGAATGCATTGAAGAGAGTAATTAATGATCCTTC___ATATAAAGAGAATGTTATGAAATTATCAAGAATTCAACATGATCAACCAGTGAAGCCCCTGGATCGAGCAGTCTTCTGGATTGAATTTGTCATGCGCCACAAAGGAGCTAAACACCTTCGGGTTGCAGCCCACGACCTCACCTGGTTCCAGTACCACTCTTTGGATGTGATTGGGTTCCTGCTGGTCTGTGTGGCAACTGTGATATTTATCGTCACAAAATGTTGTCTGTTTTGTTTCTGGAAGTTTGCTAGAAAAGCAAAGAAGGGAAAAAATGATTAGTTATATCTGAGATTTGAAGCTGGAAAACCTGATAGGTGAGACTACTTCAGTTTATTCCAGCAAGAAAGATTGTGATGCAAGATTTCTTTCTTCCTGAGACAAAAAAAAAAAAAGAAAAAAAAATCTTTTCAAAATTTACTTTGTCAAATAAAAATTTGTTTTTCAGAGATTTACCACCCAGTTCATGGTTAGAAATATTTTGTGGCAATGAAGAAAACACTACGGAAAATAAAAAATAAGATAAAGCCTTA)$ . 01BR031 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 9 0 20 21 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1),mismappers(1) CCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGAC(AAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR031 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 6 9 0 58 29 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGA)AGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAG[t]TTTTTTCTAGTCAATTCTTCC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR031 ENSG00000159658.13 ENSG00000197734.9(16994),ENSG00000063761.16(13373) -/- ./+ chr1:46686784 chr14:77786736 CDS/splice-site intergenic translocation 7 8 0 172 25 high out-of-frame . . . . ENSG00000159658.13 . ENST00000371933.8 . upstream upstream inconsistently_clipped(1) ^(GAAGTGATCTGGGGCTGGAGCGATGGCCCGGGGCTGGAGCTCGCGGCCGCCGCCGCCGCAGCCGCCGCCACCAACGCCAACAACAACGTGTCGGGAGCAGCCGCGGCCGAAGCCGGAGCAGGGGCCGGAGTCGCGGCTGGAGTGGGGCCTGCGCGTGTGAGTGGCCGAGAGTTGCCCGTGCCGGAGACCTCAAACTCCGGGCGGGAGCGCTTTCGGTCGGCCGAGCCGCCGTCGCCCGCGGCACCGTGTCCCCAAGGCCCAGACAGCGGGGCGGGGGTCTATCAGGCGCGGGACTGGCTTCTCTCAGGCCGACCCTTCTAGCCGGGCTCCGGATCTTCCTCGGCCTCGGGCCCCCTTCACGTTCAGGACGGAGGCCGGAGAACGGTGATCATCACACACCCCAGCCGGCTTCCTGGCCAGGGCATTTTCTCTGCGGCCAAGCAGTGTTGGGATTGTAGCTGCTGGGAGCCCCCTCCTGCCGCCACCTCTCCTGCAAGGAAGGGACTGACGCGTTCCCACTTTCTTACTCTGCACCTCCCCACTCTCTTCCCATTCAAGAACGAGTTTCTCTTCCCTCTCCATTGGAAATCTTGCTCCGGAGGTCCGAAACACGTATTTTAAGCGTGCCCTTCCTCACCTCCTGGAGCACCCTTAGAAGTATTGCCTACTTATCCGGGCTGAGAATCCTTCATTTTTGACCTGGCTTTTTTTTCGCCCTTTGGGAGATAAAGGTCCCTCTCCACCCTCTACTAACACTCTGCACCCAAGGCCTTATCCTTTGGGGTCACCAGCTCCTTGGCCATTTCTATGTGATTTCCCCCACCCATCTGAGTTCCAGTTTCCTCTGGGCTCCAATCTCCAGTCCCTGGCGGATCTGGTCAGTCCCACCCCTAGGTGGGAGTGACCAGGGGGCTCTGGCCCAGGATTCCCAACCCTGGAAGGCAGCTCCAAGGCAGGAAGAGAATTGGGCATCGGGTACGAACCTGGCAGCTCAGGAGTCGGGGCTCCACTCACCCCACACAAAAAGATGAAAAAGCGCAAAGAGCTCAATGCATTGATTGGTTTGGCTGGGGACAGCCGGAGAAAGAAGCCCAAGAAAGGCCCAAGCAGTCACCGCCTGCTTCGCACTGAGCCTCCCGACTCAGACTCTGAGTCCAGCTCCGAAGAGGAAGAGGAATTCGGTGTGGTTGGAAATCGCTCTCGCTTTGCCAA___GGGAGACTATTTACGATGCTGCAAGATCTGTTATCCGCTCTGTGGTTTTGTCATCCTTGCTGCCTGTGTTGTGGCCTGTGTTGGCTTGGTGTGGATGCAGGTTGCTCTCAAGGAGGATCTGGATGCCCTCAAGGAAAAATTTCGAACAA___TGGAATCTAATCAGAAAAGCTCATTCCAAGAAATCCCCAAACTTAATGAAGAACTACTCAGCAAGCAAAAACAACTTGAGAAGATTGAATCTGGAGAGATGGGTTTGAACAAAGTCTGGATAAACATCACAGAAATGAATAAGCAG___ATTTCTCTGTTGACTTCTGCAGTGAACCACCTCAAAGCCAATGTTAAGTCAGCTGCAGACTTGATTAGCCTGCCTACCACTGTAGAGGGACTTCAGAAG___AGTGTAGCTTCCATTGGCAATACTTTAAACAGCGTCCATCTTGCTGTGGAAGCACTACAGAAAACTGTGGATGAACACAAGAAAACGATGGAATTACTGCAGAGTGATATG___AATCAGCACTTCTTGAAGGAGACTCCTGGAAGCAACCAGATCATTCCGTCACCTTCAGCCACATCAGAACTTGACAATAAAACCCACAGTGAGAATTTGAAACAG___GATATCCTGTACCTTCACAACTCTTTAGAGGAGGTAAACAGTGCCCTAGTGGGGTACCAGAGACAGAATGATCTTAAACTCGAGGGAATGAACGAGACAGTCAGTAATCTTACCCAGAGAGTCAACCTGATAGAAAGCGA)TGTGGTTGCTATGAGCAAGGTAGAAAAGAAAGCAAACCTGTCCTTCAGCATG___ATGGGTGATAGATCTGCCACTCTGAAAAGACAGTCTTTGGATCAAGTCACCAACAGAACAGATACAGTAAAAATCCAAAGCATAAAG|GAAACATTTTATTGGATGTGTTCATTTATGTATGCACGTATGTGTTCTTCCAAATGGTTGTTTTCCTGGAACCAACTTCATGTGTGGGTAGCACTGTGCTAGATACTAGCTGCATAATAAATGAATGTGAAAGTTGcTGAC MKKRKELNALIGLAGDSRRKKPKKGPSSHRLLRTEPPDSDSESSSEEEEEFGVVGNRSRFAKGDYLRCCKICYPLCGFVILAACVVACVGLVWMQVALKEDLDALKEKFRTMESNQKSSFQEIPKLNEELLSKQKQLEKIESGEMGLNKVWINITEMNKQISLLTSAVNHLKANVKSAADLISLPTTVEGLQKSVASIGNTLNSVHLAVEALQKTVDEHKKTMELLQSDMNQHFLKETPGSNQIIPSPSATSELDNKTHSENLKQDILYLHNSLEEVNSALVGYQRQNDLKLEGMNETVSNLTQRVNLIESDVVAMSKVEKKANLSFSMMGDRSATLKRQSLDQVTNRTDTVKIQSIK|etfywmcsfmyarmcsskwlfswnqlhvwvalc* 01BR031 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 7 0 19 21 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . GCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGC(CAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 01BR031 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 8 0 14 38 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1),mismatches(1) GGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCaGCGGCGGCGGCGGCGGCGGCGGC?GC?GCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTG(AATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 01BR031 ENSG00000139083.11 ENSG00000139083.11(10702),ENSG00000121380.12(143765) +/+ ./+ chr12:11853561 chr12:11906079 CDS/splice-site intergenic deletion/read-through 6 4 0 46 16 high out-of-frame . Sterile_alpha_motif_(SAM)/Pointed_domain(100%)| . . ENSG00000139083.11 . ENST00000396373.9 . downstream upstream . ^(ACGTCAGTTTCTGCACTGAAACTCTCAAGATCAATGAGCAAAGAGCTTTCTCAGTTCTGCCTTTCAGTTTCTCTCTTCCAGGAAGGAAAACATTCGAGAGAGCGAGGGAGAGCCGCGGGAGGGCGGGGGGCGGGGGCGCCGGCTGCGGGTGGGAGGAGAGACCGGGAGGCCGGCCGGGCTGCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCCAACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGACCGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTGAGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAG___CAGGAACGAATTTCATATACACCTCCAGAGAGCCCAGTGCCGAGTTACGCTTCCTCGACGCCACTTCATGTTCCAGTGCCTCGAGCGCTCAGGATGGAGGAAGACTCGATCCGCCTGCCTGCGCACCTGC___GCTTGCAGCCAATTTACTGGAGCAGGGATGACGTAGCCCAGTGGCTCAAGTGGGCTGAAAATGAGTTTTCTTTAAGGCCAATTGACAGCAACACGTTTGAAATGAATGGCAAAGCTCTCCTGCTGCTGACCAAAGA)GGACTTTCGCTATCGATCTCCTCATTCAG___GTGATGTGCTCTATGAACTCCTTCAGCATATTCTGAAGCAGAGGAAACCTCGGATTCTTTTTTCACCATTCTTCCACCCTGGAAACTCTATACACACACAGCCGGAGGTCATACTGCATCAGAACCATGAAGAAG|GAATCCTGTCACCCACAAGAATGTAGCCCACTTTGTTCATAGACTGGAAATGGCTGGGGACACAGCAGAATGGAAGCCCATGGTTCCAG___AATGAAAGATG...___GTCCCATCCCATCCGAGTCTCAACAGAAAC...___AGGAGCTCATGG MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMNGKALLLLTKEDFRYRSPHSGDVLYELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEE|gilsptrm* 01BR031 ENSG00000253729.8 ENSG00000168333.13(87543),ENSG00000253474.2(4879) -/- ./- chr8:47953620 chr8:49163633 CDS/splice-site intergenic duplication 1 8 0 48 14 high out-of-frame . . . . ENSG00000253729.8 . ENST00000314191.7 . upstream downstream . ^(ACTCGGCGGCATGGCGGGCTCCGGAGCCGGTGTGCGTTGCTCCCTGCTGCGGCTGCAGGAGACCTTGTCCGCTGCGGACCGCTGCGGTGCTGCCCTGGCCGGTCATCAACTGATCCGCGGCCTGGGGCAGGAATGCGTCCTGAGCAGCAGCCCCGCGGTGCTGG___CATTACAGACATCTTTAGTTTTTTCCAGAGATTTCGGTTTGCTTGTATTTGTCCGGAAGTCACTCAACAGTATTGAA___TTTCGTGAATGTAGAGAAGAAATCCTAAAGTTTTTATGTATTTTCTTAGAAAAAATGGGCCAGAAGATCGCACCTTACTCTGTTGAAATTAAG___AACACTTGTACCAGTGTTTATACAAAAGATAGAGCTGCTAAATGTAAAATTCCAGCCCTGGACCTTCTTATTAAG___TTACTTCAGACTTTTAGAAGTTCTAGACTCATGGATGAATTTAAAATTGGAGAATTATTTAGTAAATTCTATGGAGAACTTGCATTGAAAAAAAAAATACCAGATACAG___TTTTAGAAAAAGTATATGAGCTCCTAGGATTATTGGGTGAAGTTCATCCTAGTGAGATGATAAATAATGCAGAAAACCTGTTCCGCGCTTTTCTGGGTGAACTTAAGACCCAG___)ATGACATCAGCAGTAAGAGAGCCCAAACTACCTGTTCTGGCAGGATGTCTGAAGGGGTTGTCCTCACTTCTGTGCAACTTCACTAAGTCCATGGAAGAAG|GTTTTCATCAGTATCAAGTGTCTTCATTATTTCTTCTACTACGTAATCTCTGGAATTGAAATTACAGCCACcGTCTTTGCTCTCTTTTATACACTGTGGTCTGATTGCAGTACATTTTTCGTTTTTGTTTTTGTTTGCCATTGTTAAACTGTATCTTTAGGACAGCGATGATTTCAATGGTCTGTTGCTCCAATGGCTTTTTTAACTGCTGGAATGCACACAGTACAGCCTGAGATCCCAGA MAGSGAGVRCSLLRLQETLSAADRCGAALAGHQLIRGLGQECVLSSSPAVLALQTSLVFSRDFGLLVFVRKSLNSIEFRECREEILKFLCIFLEKMGQKIAPYSVEIKNTCTSVYTKDRAAKCKIPALDLLIKLLQTFRSSRLMDEFKIGELFSKFYGELALKKKIPDTVLEKVYELLGLLGEVHPSEMINNAENLFRAFLGELKTQMTSAVREPKLPVLAGCLKGLSSLLCNFTKSMEE|gfhqyqvsslflllrnlwn* 01BR031 ENSG00000070950.10 ENSG00000101166.16 -/- -/+ chr3:8890388 chr20:59037227 intron CDS translocation/5'-5' 1 2 0 49 162 high out-of-frame . SAP_domain(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%)| . . ENSG00000070950.10 ENSG00000101166.16 ENST00000264926.7 . upstream upstream . ^(GTAATGCGGTAGCGCGGGGAATTTCGAGTGGTGTTGGAGCGCCGGAGGCTAGTGGGTGGCTGACCCCCAGCATCCTCGGGAGCGACCATGGACTCCCTGGCCGAGTCTCGGTGGCCTCCGGGCCTGGCAGTCATGAAG___ACAATAGATGATTTGCTGCGGTGTGGAATTTGCTTCGAGTATTTCAACATTGCAATGATAATACCTCAGTGTTCACATAACT___ACTGCTCTCTCTGTATAAGAAAATTTCTGTCCTATAAAACTCAGTGTCCAACTTGCTGTGTG___ACTGTCACAGAGCCGGATCTGAAAAATAACCGCATATTAGATGAACTGGTAAAAAGCTTGAATTTTGCACG___GAATCATCTGCTGCAGTTTGCTTTAGAGTCACCAGCCAAATCTCCTGCTTCTTCCTCTTCAAAGAATCTTGCTGTCAAAGTATATACTCCTGTAGCCTCCAGACAGTCTTTAAAGCAGGGGAGCAGGTTAATGGATAATTTCTTGATCAGAGAAATGAGTGGTTCTACATCAGAGTTGTTGATAAAAGAAAATAAAAGCAAATTCAGCCCTCAAAAAGAGGCGAGCCCTGCTGCAAAGACCAAAGAGACACGTTCTGTAGAAGAGATCGCTCCAGATCCCTCAGAGGCTAAGCGTCCTGAGCCACCCTCGACATCCACTTTGAAACAAGTTACTAAAG___TGGATTGTCCTGTTTGCGGGGTTAACATTCCAGAAAGTCACATTAATAAGCATTTAGACAGCTGTTTATCACGCGAAGAGAAGAAGGAAAGCCTCAGAAG___TTCTGTTCACAAAAGGAAGCCGCTGCCCAAAACTGTATATAATTTGCTCTCTGATCGTGATTTAAAGAAAAAGCTAAAAGAGCATGGATTATCTATTCAAGGAAATAAACAACAGCTCATTAAAAGGCACCAAGAATTTGTACACATGTACAATGCCCAATGCGATGCTTTGCATCCTAAATCAG___CTGCTGAAATAGTTCGAGAAATCGAAAATATAGAGAAGACTAGGATGCGTCTTGAAGCTAGTAAACTCAATGAAAGT___GTAATGGTTTTTACAAAGGACCAAACAGAAAAGGAAATAGATGAAATCCACAGTAAATATC___GTAAAAAACATAAGAGTGAATTTCAGCTTCTGGTGGATCAGGCTAGAAAAGGATACAAGAAAATTGCTGGAATGTCACAAAAAACAGTAACAATAACAAAAGAAGATGAATCTACAGAAAAGCTATCTTCTGTATGCATGG___GACAGGAAGATAATATGACCTCAGTAACAAACCACTTTTCTCAATCAAAGCTGGACTCCCCAGAGGAATTGGAACCTGACAGAGAAGAGGATTCTTCTAGCTGTATTGATATTCAAGAAGTTCTTTCTTCATCAGAATCAGATTCATGCAATAG___)TTCCAGTTCAGACATCATAAGAGATCTTTTAGAAGAAGAGGAAGCCTGGGAAGCATCACATAAG|ATCAACTACAGAATGTTCTTGCACATATGTTTTCGTTCTTGCTGCACCAATAAG___AGACTTCACAATGGAAGGCAGTCCCCACTCTGTGCTGAGAAGTCTGTGGCTGTGCAACTTTCCAGAGGGATC MDSLAESRWPPGLAVMKTIDDLLRCGICFEYFNIAMIIPQCSHNYCSLCIRKFLSYKTQCPTCCVTVTEPDLKNNRILDELVKSLNFARNHLLQFALESPAKSPASSSSKNLAVKVYTPVASRQSLKQGSRLMDNFLIREMSGSTSELLIKENKSKFSPQKEASPAAKTKETRSVEEIAPDPSEAKRPEPPSTSTLKQVTKVDCPVCGVNIPESHINKHLDSCLSREEKKESLRSSVHKRKPLPKTVYNLLSDRDLKKKLKEHGLSIQGNKQQLIKRHQEFVHMYNAQCDALHPKSAAEIVREIENIEKTRMRLEASKLNESVMVFTKDQTEKEIDEIHSKYRKKHKSEFQLLVDQARKGYKKIAGMSQKTVTITKEDESTEKLSSVCMGQEDNMTSVTNHFSQSKLDSPEELEPDREEDSSSCIDIQEVLSSSESDSCNSSSSDIIRDLLEEEEAWEASHk|inyrmflhicfrscctnkrlhngrqsplcaeksvavqlsrg 01BR031 ENSG00000228308.2(99623),ENSG00000231888.1(94095) ENSG00000223715.3 ./- -/- chr3:176916624 chr3:176491407 intergenic exon/splice-site deletion 1 1 0 31 16 high . . . . . . ENSG00000223715.3 . ENST00000652470.1 upstream downstream . CTAAAGTTTGGTTGACGACGGAGTCCTTGTCACAGCAAAGAATCATCCTGCCCTTGTCTATTCTTGGGTAAAACCCACCCCAGCCTTCCTCATGGCTCCTGTAAGACTGGCAAATGCTGAACTTGCTTATCTGCCTCCATGAAGCCCTAC...CAGTTTTGGTGCTGTGTTTCgGGCAGGAGCAGAATCCTCACCTTTGGAACCCTGTTCACTCCACCCAG|TTTTCTTCTTCATGCACAGACAGGCACCAATTTGAAGCTTAATGACAGCAGAAACAGAGAACAACTACT(___AACTAAGAGTATTTTTAATACAGTGCTGAAGAGCCAGCTGAACTGGCTTTGTAGATCATCCTCAG___GAAACTGACGGTCAGGCCTCCTGTATGACACCAGGGAGCTGAGGCTTTATGGATTGGATCACTGCACCCAATGAGACACACCTGCTGCCTGTCGAACCAACCCTCTTCCTAGCTCCTCCATAATTCCTTTTTTTCCTGCACGTGATTACAGTGAGATGCTAGATCCCTCATTCAGCTACCTGCTGCCTGTTGACCAGCTCCTCTTCCTCTCCCCCGGCCCTGGTTCTTCTTCCAAGCTATTAG___ACTATGGAAATGATGTTAGACAAAAAGCAAATTCTAGTAATTTTCTTATTCGAGTTTAAAAGCAGCAGAGACAACTCGCAACATCAACAATGCATTTGGCCCAGGAACTGCTAACGAATGCACCGAGCAGTGTTGGTTCAAAAAGTTTTACGAAGGAGACAAGAGCCTTGAAGATGAGGAGCGTAGTGGCCGGCAATTGGAAGTTGACAATGAGCAATTGAGAGCAATCATTGAAGCTGATCATCTTACAACTAAACAAGAAGTTGGGGAAGAACTCAATGTCGACTGTTCTATGATCATTTGGCATTTGAAGCAAATTGGAAAGGTGAAAAAGCTCAGTAAGTGGGTGCCTCATGAGCTGAGTGAAAATTTTAAAAAAATTGTCACTTTGAAGTGTTGTCTTCTCTTACTCTATACAACAACAAACCATTTGTTGACTGCATCGTGATGTGCGATGAAACGTGGATTTTATACAACAACTGGCAATGGTCAGCTCAGTAGCTGAATCAAGAAGAGGCTCCAAAGCATTTCCCAAAGCCAAATTTGCACCAAAGAAAGGTCATGGTCACTGTTTGGTGGTCTGCTGCCAGTCTGATCCATTAAAGCTTTCAGAGTCCCAGCAAAACCATTACATCTGAGAAGTATGCTCAGCATATTGATGAAATGCACCAAAAACTGCAATGCCTGCAGCTGGCATTGGTCAACAGAAGGGTCCAGTTTTTCTTTATGACAAGGTCTGACTGCACATCACATAACCAATGCTTCAAAAATTGAACAAATTGGGCTACCAAGTTTTGCTTAATCCACTATATTCACCTGACCTCTTGACAACCGACTACCACTTCTTCAAGCATTTTCACAACGTTTTGCAGGGAAAATGTTTCCACAACCAGTAGGATGCAGAAAATGCTTTCCAAGAGTTTATCAAATGAACAGCCAAATAAAAAGGGCCCCCTGGCAGAACCTCTGACTGGCCTGTGCACTGGGAGGAGTGCACACTGGGGTGGAGCTCAGGAAGTTTGCGTTATTTGCAGAGGGGAGGAGCCTGGCCGCTCCTGTTCCAGGTGGTACCTGGGATTCAGTCTGTGAGGTGGGAAACCATCTAGCAGGGCTCTCACTTTGCTGAGAGTTCCTGTTTTCCTTTTTTCTCCTTTTTGCCCAATATATTCTATTTTTCTCACCCTTCAAAGTGTCTGTGAGCCTAGTATTTCATGGCCATGTGACAAGAACATGACTTTTAGCTGAACTAAGGAGAAAGTCCTATAACAACATCCTGAAGCACAGATTTTTATGCTACAGAAATAAACAAACTTATCTCTCATTGGCAAAAAGGTGCTGATTATAATGGTTCCTATTTTGATTAATAAAGATGTGTTTGAGCCTAGTTATAATGATTTAAAATTCACAATCTGAAACTGCAATCACTGTGCACCAACCTAATACATAAACCCCTGACTTTAGTCAGGAGTAGGGGGAGGACTTGAGGTTTGGCTAATGTCTCTCTGGCTCACATTGCCCATAATATAATAAAGCCTTCTTCACCAGCAATATTCAGTGTCTCAGTGATTGGCTTTCTGTGAGAGGGGGAACAATGGGATCTAGACTGAACTCCTGGTGTTTGGTAGCACTTGGTTTGGTTAAATTATTTTTTTAAAACCCCCAGTCTGATTTTTTCTTCAAGGATTGACTTAAATACCACCTACTCCAAGAAGCTTTCCCTGACCTCTCCAACTAAAATTGAATTTTCTTTCTTCCTAACTTCAGCAGAAGTTAAACTTCACATGTGACACTGAAAAGGTTCAACCTTGTATTAAAATTATCTATATATGTGTCTCATCTACCCTATTAAGTAGAAATTATTTGAGGGCAGAAGGTTTTTATGATTGTTTTCTATCCTACTTAGCATCTAGCTTAGCTCCTTGGAACAGTAGTAGGCATTCAGAAAAACTTGTTCTTATTTGATTTGGCTTGCTGAAGAAAAACAATAGCACCACTTAATAATCAGAAGAGATAGAAATGCATGCAAAAAATTCCTACCCTACAGTGGAATGCAGCGTCTTTAACAAAACGCTTCCTGATTCTTAAAGTGCTCCCTCCTCAGCAAACTGCTGGTTTGACCTACACTAAAACTTCATCATCAGGCATAGGCTCCCCATTTCCCTGATTTATTATAAAGGATTAAAGTGCTCACTGGTATTTACTTTTGATGATTTATGCCTAGATTGTATGTATAGTCAGCGTGGAAGAAATATTGAAGGGTGTATTCACACCAGCATTTTTCAGAAACAGCCTGGCTGAGTGTGGATTGGCAGTGCATAATAAAAAGAAGCAGGAGAGCCAGTCTCATTTTCAATTGCAATAATCCCACTCTGTACTGGTTGCAGGATAGAGACGCTCTTTATCCATTTTTTTATTTATTTAGCCAATCAATAAGTCATTATTCTCTGAGTTAGTCAAAAAACATCTTTATGTGGGCACGAACTGGGTAGTGCCTTCAAGGCCTTTCTGATAATTGGTATCATTACAACTAAAATCCAGTGGAATTCCTTTATAATATTCATGCCAATGGACAGACCTAGTATCCTTCTTAAATAGTAGTCAAAAATCTCAATATTAACATGCTATCTTTTCTAATTATTAACTGTGGGTATGTCCAATATTAATAGGCATACGC)$ . 01BR031 ENSG00000258331.1(143216),ENSG00000173157.17(47540) ENSG00000173157.17 ./+ -/+ chr12:43306326 chr12:43427327 intergenic CDS deletion/read-through 9 4 0 59 21 medium . . . . . . ENSG00000173157.17 . . downstream upstream . CTGCCAGTGTGACTCACTATGAAGCCCCCTCAGAAGACTTGGCTGACATTACTTCCTTCCCCAGTCAGACTTGGCTCCACAACTGGAACAGGCCACAGCTTGCGAAAGAGCCCATGAGTCAATTCAACAGAGATGAGCTGGGGAAGAGAGAGGAAATAAG|TTCCACTGTGGACAAGGCCCTGGACCACATTGCTGTAACTCTGGAGGCTTGGAGGCTGCATCGCAGTAACTAGCACTTTGTCCATTTTCATCCTGGCAGACCACAGCCCTATGCTGAAGACCTCCAGAACAACTGCTG . 01BR031 ENSG00000263535.2 ENSG00000172260.15 +/+ -/- chr17:31345663 chr1:71407570 exon CDS/splice-site translocation 4 0 0 13 15 medium . . . . . ENSG00000263535.2 ENSG00000172260.15 ENST00000581275.2 ENST00000357731.10 downstream downstream . ^(ATGGCTTCCA)AACTCCTGCGCGCGGTCATCCTCGGGCCGCCCGGCTCGGGCAAGGGCACCGTGTGCCAGAGGATCGCCCAGAACTTTGGTCTCCAGCATCTCTCCAGCGGCCACTTCTTGCGGGAGAACATCAAGGCCAGCACCG|CTCCAAGTACAGCCCAGTATGGAATTACCGGGAGCGCTGATGTTCTTTTCTCCTGCTGGTACCTTGTGTTGACACTGTCC(TCTTTCACCAGCATATTCTACCTGAAGAATGCCATTCTACAATAAATTCAAAGACCCATAAAAGGCTTTTAAGGATTCTCTGAAAGTGCTGATGGCTGGATCCAATCTGGTACAGTTTGTTAAAAGCAGCGTGGGATATAATCAGCAGTGCTTACATGGGGATGATCGCCTTCTGTAGAATTGCTCATTATGTAAATACTTTAATTCTACTCTTTTTTGATTAGCTACATTACCTTGTGAAGCAGTACACATTGTCCTTTTTTTAAGACGTGAAAGCTCTGAAATTACTTTTAGAGGATATTAATTGTGATTTCATGTTTGTAATCTACAACTTTTCAAAAGCATTCAGTCATGGTCTGCTAGGTTGCAGGCTGTAGTTTACAAAAACGAATATTGCAGTGAATATGTGATTCTTTAAGGCTGCAATACAAGCATTCAGTTCCCTGTTTCAATAAGAGTCAATCCACATTTACAAAGATGCATTTTTTTCTTTTTTGATAAAAAAGCAAATAATATTGCCTTCAGATTATTTCTTCAAAATATAACACATATCTAGATTTTTCTGCTCGCATGATATTCAGGTTTCAGGAATGAGCCTTGTAATATAACTGGCTGTGCAGCTCTGCTTCTCTTTCCTGTAAGTTCAGCATGGGTGTGCCTTCATACAATAATATTTTTCTCTTTGTCTCCAACTAATATAAAATGTTTTGCTAAATCTTACAATTTGAAAGTAAAAATAAACCAGAGTGATCAAGTTAAACCATACACTATCTCTAAGTAACGAAGGAGCTATTGGACTGTAAAAATCTCTTCCTGCACTGACAATGGGGTTTGAGAATTTTGCCCCACACTAACTCAGTTCTTGTGATGAGAGACAATTTAATAACAGTATAGTAAATATACCATATGATTTCTTTAGTTGTAGCTAAATGTTAGATCCACCGTGGGAAATCATTCCCTTTAAAATGACAGCACAGTCCACTCAAAGGATTGCCTAGCAATACAGCATCTTTTCCTTTCACTAGTCCAAGCCAAAAATTTTAAGATGATTTGTCAGAAAGGGCACAAAGTCCTATCACCTAATATTACAAGAGTTGGTAAGCGCTCATCATTAATTTTATTTTGTGGCAGCTAAGTTAGTATGACAGAGGCAGTGCTCCTGTGGACAGGAGCATTTTGCATATTTTCCATCTGAAAGTATCACTCAGTTGATAGTCTGGAATGCATGTTATATATTTTAAAACTTCCAAAATATATTATAACAAACATTCTATATCGGTATGTAGCAGACCAATCTCTAAAATAGCTAATTCTTCAATAAAATCTTTCTATATAGCCATTTCAGTGCAAACAAGTAAAATCAAAAAAGACCATCCTTTATTTTTCCTTACATGATATATGTAAGATGCGATCAAATAAAGACAAAACACCAGTGATGAGAATATCTTAAGATAAGTAATTATCAAATTATTGTGAATGTTAAATTATTTCTACTATAAAGAAGCAAAACTACATTTTTGAAGGAAAATGCTGTTACTCTAACATTAATTTACAGGAATAGTTTGATGGTTTCACTCTTTACTAAAGAAAGGCCATCACCTTGAAAGCCATTTTACAGGTTTGATGAAGTTACCAATTTCAGTACACCTAAATTTCTACAAATAGTCCCCTTTTACAAGTTGTAACAACAAAGACCCTATAATAAAATTAGATACAAGAAATTTTGCAGTGGTTATACATATTTGAGATATCTAGTATGTTGCCCTAGCAGGGATGGCTTAAAAACTGTGATTTTTTTTCTTCAAGTAAAACTTAGTCCCAAAGTACATCATAAATCAATTTTAATTAGAAAAATGAATCTTAAATGAGGGGACATAAGTATACTCTTTCCACAAAATGGCAATAATAAGGCATAAAGCTAGTAAATCTACTAACTGTAATAAATGTATGACATTATTTTGATTGATACATTAAAAAAGAGTTTTTAGAACAAATATGGCATTTAACTTTATTATTTATTTGCTTTTAAGAAATATTCTTTGTGGAATTGTTGAATAAACTATAAAATATTATTTTGTATTGCAGCTTTAAAGTGGCACACTCCATAATAATCTACTTACTAGAAATAGTGGTGCTACCACAAAAAATGTTAACCATCAGTACCATTGTTTGGGAGAAAGAAACAGATCAAGAATGCATATTATTCAGTGACCGCTTTCCTAGAGTTAAAATACCTCCTCTTTGTAAGGTTTGTAGGTAAATTGAGGTATAAACTATGGATGAACCAAATAATTAGTTCAAAGTGTTGTCATGATTCCAAATTTGTGGAGTCTGGTGTTTTTACCATAGAATGTGACAGAAGTACAGTCATAGCTCAGTAGCTATATGTATTTGCCTTTATGTTAGAAGAGACTTTCTTGAGTGACATTTTTAAATAGAGGAGGTATTCACTATGTTTTTCTGTATCACAGCAGCATTCCTAGTCCTTAGGCCCTCGGACAGAGTGAAATCATGAGTATTTATGAGTTCAATATTGTCAAATAAGGCTACAGTATTTGCTTTTTTGTGTGAATGTATTGCATATAATGTTCAAGTAGATGATTTTACATTTATGGACATATAAAATGTCTGATTACCCCATTTTATCAGTCCTGACTGTACAAGATTGTTGCAATTTCAGAATAGCAGTTTTATAAATTGATTTATCTTTTAATCTATAACAATTTGTGTTAGCTGTTCATTTCAGGATTATATTTTCTACAAGTTCCACTTGTGGGACTCCTTTTGTTGCCCCTATTTTTTTTTAAAGAAGGAAGAAAGAAAAATAAGTAGCAGTTTAAAAATGAGAATGGAGAGAAAAGAAAAAGAATGAAAAGGAAAGGCAGTAAAGAGGGAAAAAAAGGAAGGATGGAAGGAATGAAGGAAGGAAGGGAGGAAGGGGAGAAGGTAGGAAGAAAGAAAGGATGAGAGGGAAGGAAGAATCAGAGTATTAGGGTAGTTAACTTACACATTTGCATTCTTAGTTTAACTGCAAGTGGTGTAACTACGTTTTTCAATGATCGCATTTGAAACATAAGTCCTATTATACCATTAAGTTCCTATTATGCAGCAATTATATAATAAAAAGTACTGCCCAAGTTATAGTAATGTGGGTGTTTTTGAGACACTAAAAGATTTGAGAGGGAGAATTTCAAACTTAAAGCCACTTTTGGGGGGTTTATAACTTAACTGAAAAATTAATGCTTCATCATAACATTTAAGCTATATCTAGAAAGTAGACTGGAGAACTGAGAAAATTACCCAGGTAATTCAGGGAAAAAAAAAAATATATATATATATAAATACCCCTACATTTGAAGTCAGAAAACTCTGAAAAACTGAATTATCAAAGTCAATCATCTATAATGATCAAATTTACTGAACAATTGTTAATTTATCCATTGTGCTTAGCTTTGTGACACAGCCAAAAGTTACCTATTTAATCTTTTCAATAAAAATTGTTTTTTGAAATCCAGAAATGATTTAAAAAGAGGTCAGGTTTTTAACTATTTATTGAAGTATGTGGATGTACAGTATTTCAATAGATATGAATATGAATAAATGGTATGCCTTAAGATTCTTTGAATATGTATTTACTTTAAAGACTGGAAAAAGCTCTTCCTGTCTTTTAGTAAAACATCCATATTTCATAACCTGATGTAAAATATGTTGTACTGTTTCCAATAGGTGAATATAAACTCAGTTTATCAATTAAAATATGTATTTGACTCATTTTAAAACTCTATTAGCTTAAGAGAAAGAAGGAAGAAATAATAATTTGAAGATATTTCTGCTATTCTCTTTATTTCCTGTATTACACTCATCTTTCTGCTTACTCTAAAGCAGTACAGGGTAAAAATTCTAGATGCTACAGTTTCAAATGACTCCACACTATATTCTTTCTTGCTGTTGCTGATTCCTAAAAGGTTTGATGAGCTGAACTACATCTAAACTAAAAATAAATTTTCTGGAAACATTTTATTATTAATTATTTAGAACCTTTACCTGGTAAAATACAGCAGAGTTAGCAACAGAGACTAAATATCCTGTTGATAAAATCCTGATGATCTTACAGGCTAAACAACTGAAAACTCAAACGCTTGTAAGAGCCAGGCAGAGTGTAATTTCTTAACAGCTGGGTATAAAACAACGGGCACCTGAAGGTATTCAGATACAATTTCCTTAAAAATACCTTGGTTTCCAAGCAAAACACGTTATTTGGCTGAGAACCTTTAGTTTGTAAATACCAAACCATAATATACAAATGAGATCTCAAGCCAAATGAATTTTTTAAGCCCTCTTTCCCATATCTGTTCATCTATGATAGTCAACTGAATAAATGAGAACAATGTGATAGATAAAACAACAAAGCATAAAAAAGATTCATGCTTGGTTTTATAAGCTATTTTGAAATATAAGTATCATTGCTATTCTGAGAAATCTATATACACCAAAGCCCTCCCTCCACAAAAAAACTGGAAATGTTCTAATAAATGTCTGATTTCCCCCACAGCTTCATTATTTCTTCCCTTTTCAACATCTATCTTATCTATCTTGCATAAATTACATCACAGAAACAGAAACATCAAGTATCAGACATGGAAAACCAGCACATGAAACAGAGCTAGTTTCCCTCTCAAAAGAATAGGGCAAAACATAGATGCTTCAAAATCATATCTTGGTATACAGAAAATAATTATTCACTTTAACCTGACAGTCAGAAATGTAAGTAAGAATTTGTAGAGATAATTTTCCAAGGTAATTCATTCAAGTTAGTGGAATTTGATCCAAACACCCGTCAATGTACTCCCTCTGAACTTTCCAAGAATCATACACCTTCACATTTACATTCACTGTTTTTCTAGTAATTCCAAACTTACTCAAAAGTATTTCAGAATTGATATCACTGGTGGAAAGAGAGCAATTTAGCAAACAAATACATGCTTTCCGGTATTCCTAGAGAAAAGGAAAAGAGGAATACGTTTCATTCTTCTCCCTAGAAGCTCTACCCACAGTCATCCTAAAGCTAGACCAATCTCTCCCAGGGCTTTCCTTCAGTCTAAGAAACATGCTTCATTTCAGAGACAATTGTGGCAACTATAGTTTTCCCCAAAGGGTCACAACTACCTCTCCTTTGCATTTTACAATGGAGCACTTTTGCAAGTGTTGCTATTGTGGCTTTCTCAACACTTTCAAATACTTAAAGGAGAAAATATTACTATTGTCATGTATTGATGGTGAAAACGAGATTCAGAAATTTTGAGTCACTTGCTGAAGATTATACTTCAACTAAGTGGCAGATCTGAGCCAAATATGCAATGAAAAATGTTCCCAATTTGTTTCCAGTCCCAGACTACCTAGGAAAAAGAAAAGCATATAATCACATTGCTAGCTTCATAGACAACTATTTGCATATTTTTATTTATATATTTATATAAATATAAGCACATTTTAAATATAAATATAGATATTTATGACATCCTTGTATTTTCCAATACCTGCAGAGGGTATGAGATTTAAAGGCTAATCAGATTGTACATGTCATCTAAAACTTTGGAAACGTGAAACTCACAGTACAGTTGCCTTTGGACACACAGCCTTGGGTTGTATGAGACTGGTCACACCAAGTGGAGAATCTTGTCATAATCGCATGTATCTTCTTTTTGTATAGCATTTTGCAAAAAATGTGTCAAGTTTGGGATAATCCACTAAGACTATTCCTCAGACATCTGCAATCAACAGAATTTTGGGGGAAATGGAGATCAGAATACATACACACTTTTAAAAAAATTCACAATACTGATTTTAATCTGAGTGATGTTGTTTGAGGCCATTTATATTGAAATACTAACATGAACATCTGTTTGTGCTGGGACAGTAGAACAAGAGAAAGATTCTAATTCTAGAAATTAAATGATATGCAACCTAAGAAATACATTTGTACTTTGTTTTCAAAATATGAATATAATACAAATCCTATGGATATCACCACTTAGTTTGAAAAACATAAAAAGTGTGATTTTCATACACTTATGAAATGAATAAATTAATTCATTAATGAAGGACCTGATAAGACATTACAACCAGATAAAAGGATAATTTAAAGAACATACACATTTATAGATCAAAAACCTTGAAATTAATGTACTAATAGAGGCAAAACTGGCTTCCAGAGTGAGGAGGAGAATTCAATTGAATCTTTACCCCTCAGAATTTATTTCCATATCTGTAGACGAGAAATATTTTGCCTTAGTATTATTTATTTACAACTTGAAAAAGAGTTCAAATATAATGAAAAATACAGAGGCTCCAAAAGAATCAGAATCAGGTAACCTGTAAAAGTGTGTTCCAAGTAATTAGTGGTTTTTCATTTCAGCAAAAATTCTTCTCTGCAATGAAGAGACATAATTTTTTTTTCTTTTTCAGAGTTTTGCTCGGTTGCCCTGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCCAGTAGCTGGGATTATAGGCACGTGCCACCACACCTGGCTAAGTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGTCTGGTCTAGAACTCCTGACCTCAAGTGATCCACTTCCCTCGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTCCCAGACGAGATGTAAAATTTTTAAAGCCATTGAATTAAATTCATTGCTAACATTTTGAGCTTTGATAATGTAATGCCTACTTTAATGACCCAAAAAAAAAAAAACCCAAGTAACCTATCTATCTAATAATCTATGTTTTTTAATTACTCCTTTTCTTCCTTATCTCACAAACCATAATCCAATAGTCTAGGACATGTGAAAGAGAAAGTAAACAGTCACAAGAACTACCTTGCTTCGAGAATCCACCTTGTTGAAAAAATAATATATTTTGGGCACTTGTTAAAAAGAATTAACAGAAAAAGTCTTTTTTTTTTTGTCACAGGGGCATTTAATTCATGGTATAACAGGAATTTTATATCAAAAACAGTAAGAAAAATGAAGTAACAGTTGAGATAGCAATAATTCATCAACCAAATACTATGATAATGATAAAAACATTGCAAGAAGCTATAGCCAGAACTGAGTGTTCTGCTCCTACTTAGTGCTAATGAGCCCAGTCCTAGCACACATCTTGGTTTGGTAGAAACTACAGGAGGTAGCATGGTTCATTACACCTTCAAAACTTTAAAATGTTAAAGAGGGTGGTTTCCCTCCTTCATTTCAAATGGATTGCTAAAAGCACTGGGCTATTCCTTGGTGGAAATTTGAATTTGCCAGTTTCTTCATCAATTTTGACTTTTTACATTCAAAAAGGAGTTAACTTTACACTAAGTCACAGCAGACTTAGACCTCCCGCAGTTCTGAATTGTGCTTAAACAAGTATTCAAGCACATGGGGATTTCTCAAGAAAATTTGGGGACCATATCTTAGAAAAAAAACTTACAAAATATTCGTTGAAGACTATAATATGCTAAAGCTAAGGAACAAAATTCTCTTGATTGTTCTAAAAATACCTAGTAAGAGCCACAGAACTCTTCCATAGTTTTCTAAGTAGTTTCATAAGTGTGGATTGTGGTTGCCCTGAAACTTGACATCTCCCTACCAAGTACTTGACAAGTGACCTGGCAAAAATGTGTTCAATAGCTCATTTTTGACATACTCCTTAAGAAATCATTGCCAGAGATTTGAAACTGCTTCAAGCTGATGTCTTTTTCAAAACAAAACACATACTCACACACAAATACAAAATCGCATTGCTATCAGTGATCTGGAAAATAAGCTTGCAAGCTGGCCATGTGGTGTTCTGAATAATTTTTTTAAAGTAGAAGAAGAAATGACAACAGTGCAACCAACAGTTTCTGTTTAAGTTTTATTTGCTAAGACGTTAGCATAAGGAACATCTTGTGATTTAATTAATCAGAAGATGGCACCTGCTGTAAATACTGACATGGAGAAAAGCAGATTTTTAAAAAAATTTGGAATAAATTAATTTCTTGTAATACATTTTTCTTGTTGATAAACAACTAAATTATGCTTTGAAATGTGTTACTGTCTAATAACTTTAAATGTTGACAAGGAGAAAGACTGGGTTTTTTTTTTTACATTTGAATAAGCAATTTTTTTCTGGAAACATATATATTTCTAATTTATAGATAAACTAGTATGTGTGTTCAGAATTCCTGCTCTCTCATTATTCAGGTTTCAAAATGTATTAACAAAGCTTTTATGGTTTTATAATAGACAATTAGATATCTTTCATCAGGTAATGTAAGAACTTGTATAGTGGTATATTAGTCAGTTTTCACACTGCTGATAAAGATATACCCGAGACAGGGCAATATGCAAAAGAAAGAGGTTTTTTTGGACCTACAGTTCCATGTGGCTGGGGAAGCCTCACAATCACAGTGGAAGGTGAAAGGCACGTCTCATATGGCAGCAGACAAGAGAAAAGAGCTTGTGCAGATAAACTCCCCCTTATAAAACCATCAGATCTCATGAGACCCATTCACTATCACAAGAACAGCATGGGAAAGACCTGCTCCCATGATTCAATTACCTCCCACCAAGTCCCTCCCACAATCCGTGGGAATTCCAAATGAGACTTGGGTGGGGACACAGCCAAACCATATCATTCCACCCCTGGTCCCTCCCAAATCTCATGTCCTCACATTTCAAAACCAATCATGCTTTCCCAACAGTCCCTCAAAGTCTTAACTCATTTCAGCACTATCTCAAAAGTCCACAGTCTAAAGTCTCATCTGAGACAAGGCAAGTCTCTTCTGCCTATGAGCAGCCAGTAAAATCAAAAGCAAGTTAGTTACTTCCTAGATGCAATGGAAGTACAGGCATTGGGTAAGCATAGCCATTCCAAGTGGAAGAAATTGGCCAGAACAAAGGGACTACAGGGGCGGTCAAGTCTTAAAGCTCCAAAATGATCTCCTTTGACTCCATTTCTCACATCCAGGTCATGCTGATGCAAGAGGTGGGCTCCCATGGCCTTAGGCAGCTCCGCCTCTGCAGCTTTGCAGGGTATAGCCCTCCTCCTGGCTGCTTTCACCAGCTGGCATTGAGTGTCTGTGCCTTTTCCAGGTGCATGGTGCAAGCTGTTAGTGGATTTATGATTCTGGGATCTGGAGGACAGTGGCCCACTTCTCACAGCTCCACTACGTGGTGTCCCAGTAGGGACTCTGTGTGGGGCTCACTCCACATTTTCCTTCTGCACTGCCCTAGCAGAGGTTCTCCATGAGGAGAACTTCATTCTGGGCATCCAGGCATTTCTATACATCCTCTGAAATTTAGGTGGTGGTTTCCAAGCCTCAATTTTTGACTTCCATGCACCCACAGGCTCAACACCATGTGGAAGCTGCCAAGGCTTGGGGCTTCCACTGTCTGAAGCAACAGCCCAAGCTGTACCTTGGCTTCATTTAAATCATCCTGGGAGCAACTGGGAGGCAGAGCACCAAGTTCCTAGACTGCACATAGCAGAGGGACCCTGGGCCAGGCCCACAAAACCATTTTTTTCCTCCAAAACCTAGGGGCCTGTGATGGCAGGGGCTGCTGCAAAGGTCTCTGACGTGCCCTGGAGACATATTCCCCACTGTCTTGGTGACATTCAGCTCCTCATTACTTATGCAATTTTCTGCAGCCAGCTTGAATTTCTCCTCAGGAAATGGGATTTTCTTTTCTATCACATTTTCAGTCTGTAAATTTTTCAAACTTTTATACTGTTTCCCTTTTAAAACTGAATGCCAGCCAGGTGCACTGGCTCATGCTTGTAATCTCAGCACTTTGGGAGTCTGAGACAGGCAGATCACCTGAGGTCACGAATTTGAGACCAACCTGGCCAACATGATAAAACCCCAACTCTACTAAAAATATAAAAATTAGTGAGGCATGGTGGCACATGCCTGTAATCTCAACTGCTTGGGAGGCTGAAGCAGAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCTGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAACAAAACAAAACAGAACAGAACACTGAATGCCTTTAACAACACCCAAGTCACCTGTTGAATGCTTTGCTGCTTAGAAATTTCTTCCTCCAAATATCCTAAATCACCTCTCTCAACTTCAAAGTTCTACACATCTCTAGGGCAAGGGCAAAATGCTACCCATCTCTTTGCTAAAACATAACAAGAGTCACCTTTGCTCCAGTTCCCAACAAGTTATTCATTTCCATCTGAGACCACCTCAGCCTGGATTTTATTGTCCATATCATTATCAGCATTTTGGTCAAAACCATTCAACAAGTCTCTAGGAAGTTCCAAACTTTCCCACATTTTCCTGTCTTCTTCTGAGCCCTCCAAACTATTCCAACCCCTGCCTGTTACCCAGTTCCAAAGTCACTTCCACATTTTCAGGTATCTTTTCAGCAGCACTCCACTCCTGATACTAATTTACTATATTAGTCAGTTTTCACACTGCTGATAAAGACATACCTGAGGCTGGGCAATTTACAAAAGAAAGAGGTTTATCAGACTTACAGTTCCACGTGGCTGGGGAGGCCTCACAATCATGGTGGAAGGTGAAAGGCACATCTCACATGGCAGCAGAGAAGAGAAGAGAACTTGTGAAGGAAAACTCCCGCTTATAAAACCATCAGATCTCATGAGACTTACTCACTGTCATGAGAACAGCATGGGAAAGACCTGCCCCCATGGTTCAATTACCTCCCACCAAGTCCCTCTCACAATATGTGGGAATTCAAAATGAGATTTGTGTGGGGACATGGCCAAACAATATCAAATGGTTTTGATTTTTATGTTGAGGCACATTCTCAAGCTAGTATCATTTCAAGAAGAACCTGTTATTTGTTGATTTTGGAAATTTTAAAAATCAGATTTAATTTACACTGAAAAGTGGTTGACCTTAACGTTTCTCAGATAACCTGAAATGTTCATGTGGCATTCATTCATTCATTAATCCATCCACTTATTTGACAATAAAATATGATTTAGGTGACCTCTGAAGAGCTGTCTAAAAAGAATTACCTGGTAGAGTTAATCTGGATGTTTAGGACACTATGATCAAACTGAAGAAAAAGGCACCCATTTCTCTAATCCTTTCTTTGGGAAGCTGATTTCACTTTAAACTGAAAGTGAGAAAGGAAAAGGAAGAAGAAAAGAAACAGAGGGTAAAAGAAGAGAAAGAGGAAGGGAAAGAAAGAGATTAATGTATATTTTCTCCTAAGAAAGGCTCTTTTGTGTGTGTCGGTGTGTGTGTGCATGTGTGTTTCCTGTTGCCTGGATCTATCATAAAAAGCAATGTCTTCTCTGGAATGGGGCTTCAGTTTCCACATTTACAATTAGTACATATTACAATTAGTGATATGAATAAAGGCTGTTATCCTACA)$ . 01BR032 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 23 21 1 53 62 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(1) ATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR032 ENSG00000198382.9 ENSG00000162105.19(123481),ENSG00000172900.12(34358) +/+ ./+ chr11:75888903 chr11:71348243 CDS/splice-site intergenic duplication 18 18 1 41 40 high out-of-frame . . . . ENSG00000198382.9 . ENST00000356136.8 . downstream upstream duplicates(1) ^(GGTAATATGGCTCTTCCTTAGCCAGCGGCGGCAACGGCGGCAGCGGCGGCAGCGGCGGCGGCTACTGTCTGGGCTGAGCAGTAGTGCCTCTCGGGTGGCGGGTTTCTAGGCTGCAGGGGCTTGGTAGGTGGTGGCAAGGGGGCGGCGGCGGATGCCGGAAGAGTGCCCGCCCCGCCGCTTGGCGGCCCCTGGATCGAGATGAGCGCCTCCGCGTCGGTCGGGGGCCCCGTCCCCCAGCCACCCCCGGGCCCGGCCGCTGCTCTGCCTCCCGGTTCTGCCGCGCGGGCCCTGCATGTGGAGCTGCCGTCTCAGCAG___CGGCGTCTTCGACATCTTCGGAACATTGCTGCCCGGAACATTGTTAATAGAAATGGCCATCAGCTCCTTGATACCTACTTTACACTTCACTTGTGTAGTACTGAAAAGATATATAAAG___AATTTTATAGAAGTGAAGTGATTAAGAATTCCTTG___AATCCCACGT)GGCGAAGTCTCGATTTTGGAATTATGCCAGACCGTCTTGATACATCTGTGTCTTGTTTCGTGGTGAAGATATGGGGTGGAAAGGAGAACATCTACCAGCTGTTGATTGAATGGAAAGTCTGTTTGGATGGGCTGAAATACTTGGGTCAGCAG___ATTCATGCCCGAAACCAAAATGAAATAATTTTTGGGCTGAATGATGGATACTATGGTGCTCCATTTGAACATAAG|GGACTACAGTGTCTTAGAACTCACAGGAATGAAGTCTTTCCCGAAGGAGAAAAGATCAGCTGTGTCAAAAGCTATGGTGAAAGGAAGATGAGAATGTGCTAATGGATTTGCCAGCATGGTGGTCATTGGTGACATTGACAAAGATAGTTTTGGTGGATTGGGGGAAGAACCTCAGCTTGGATGGGGTTCAGGAGAGATTGCAGGGTGAAATAGTAGAGACAGAATGGACACTTTGG MSASASVGGPVPQPPPGPAAALPPGSAARALHVELPSQQRRLRHLRNIAARNIVNRNGHQLLDTYFTLHLCSTEKIYKEFYRSEVIKNSLNPTWRSLDFGIMPDRLDTSVSCFVVKIWGGKENIYQLLIEWKVCLDGLKYLGQQIHARNQNEIIFGLNDGYYGAPFEHK|glqclrthrnevfpegekiscvksygerkmrmc* 01BR032 ENSG00000213958.2(12786),ENSG00000150722.10(10604) ENSG00000150722.10 ./+ +/+ chr2:181975264 chr2:182061442 intergenic CDS/splice-site deletion/read-through 18 8 0 39 80 high . . . . . . ENSG00000150722.10 . ENST00000409702.1 downstream upstream mismatches(1) AGGACACAGTGAAAAATGTACCGAGACCTTGGAGAGCCACGAACCAAGAAACTTCAGAAACCTCTGATATCTGATCAAGAGTTAAGAGACGTCAGAATCATCACAACTGACAAAAG___AATGTTTTCTCTCTTCAAGATTCTCTTTTGAAAGACATCTAAAAAG|AAATAGATGACAAGAGGGGGCCCAACACACAAGGGGAA___TTACAGAATGCATCCCCTAAGCAAAGGAAGCAGAGTGTGTACACACCACCCACCATAAAAG___GGGTTAAGCATCTGAAAGGCCAGAATGAATCAGCATTCCCTGAAGAAGAAGAAGGCACCAATGAAAGAGAGGAGCAGCGGGACCATTAATTACTGGTCTGCAGCAAGAAGGCTT(CTTGGAAATAACTGAACTATTAACTTTTCTGAGTATACCATGGAATTCCACTGCTTGACTTCCAGAAGCATCCTCCATCTCTGCACCCCACACTCATACAGTAGCTATGCACATCCTGGAAGTCTCCTTGACTGAACTTTAGAACTAA___GTGCAAAATGAGTTGATAACAACCAGAAGTTGACTTGTTAGTGCTGTGCTTCTACTCGAGCTTGGAAAAATCCCAACACAAAACAAACACCACCTCCGATTCCATCATGATGCCACGTTGCTTTCTACTGGATTACCTCCTGAAGCACTTTAGATATTTTATACATAAGTATTGACATGTTTTTCAGAAGCTGTTTCTTCACTTATTGCTTTTTTCTAATAATTTTTATTACACCATTTGCCAAGTCCTTCCCTTTGGTTTTAGTTTATTCCTCTCTACAACTAAAAAAGGGATCTTGAGTTTAGGTACATTTTAAGTGATTCATTTTTAGTTTTTCTAATTCTGGAATCTGAGCCTTCTCTTACAACAGGGAGTCTTTCAAAAACATTTTTTTGTTTCTTTTTCAAATTCCACTGTGTTTATTTATTGCCTTGTTTCTTTTTCAAATTCCATTGGTCTTGATTTAATTTAGTTCCACAGATTTTACTGATAGTCTACTACCTGCCAACTACTGAATTATGCAGCAGACTTATAAAAATAAAAAGGCTATTTTATTGTTATTGCC)$ . 01BR032 ENSG00000213958.2(12786),ENSG00000150722.10(10604) ENSG00000150722.10 ./+ +/+ chr2:181975264 chr2:182061442 intergenic CDS/splice-site deletion/read-through 14 2 0 39 80 high . . . . . . ENSG00000150722.10 . ENST00000409137.7 downstream upstream mismatches(1) AGGACACAGTGAAAAATGTACCGAGACCTTGGAGAGCCACGAACCAAGAAACTTCAGAAACCTCTGATATCTGATCAAGAGTTAAGAGACGTCAGAATCATCACAACTGACAAAAG___AATGTTTTCTCTCTTCAAGATTCTCTTTTGAAAGACATCTAAAAAG|AAATAGATGACAAGAGGGGGCCCAACACACAAGGGGAA___TTACAGAATGCATCCCCTAAGCAAAGGAAGCAGAGTGTGTACACACCACCCACCATAAAAG___GGGTTAAGCATCTGAAAGGCCAGAATGAATCAGCATTCCCTGAAGAAGAAGAAGGCACCAATGAAAGAGAGGAGCAGCGGGACCATTAATTACTG(___GTGCAAAATGAGTTGATAACAACCAGAAGTTGACTTGTTAGTGCTGTGCTTCTACTCGAGCTTGGAAAAATCCCAACACAAAACAAACACCACCTCCGATTCCATCATGATGCCACGTTGCTTTCTACTGGATTACCTCCTGAAGCACTTTAGATATTTTATACATAAGTATTGACATGTTTTTCAGAAGCTGTTTCTTCACTTATTGCTTTTTTCTAATAATTTTTATTACACCATTTGCCAAGTCCTTCCCTTTGGTTTTAGTTTATTCCTCTCTACAACTAAAAAAGGGATCTTGAGTTTAGGTACATTTTAAGTGATTCATTTTTAGTTTTTCTAATTCTGGAATCTGAGCCTTCTCTTACAACAGGGAGTCTTTCAAAAACATTTTTTTGTTTCTTTTTCAAATTCCACTGTGTTTATTTATTGCCTTGTTTCTTTTTCAAATTCCATTGGTCTTGATTTAATTTAGTTCCACAGATTTTACTGATAGTCTACTACCTGCCAACTACTGAATTATGCAGCAGACTTATAAAAATAAAAAGGCTATTTTATTGTTATTGCCATCCTGCTAGTAAAGATTTATTCAATTATTTATAATTAATTAAGTGGCTTCACCTATATTTCTGTTAATAATCACATTAATTATGTATGACAGGTAGGATTTATGTTATAGATAAGAAAACTAGAGTCCAAAGAAAATAAGTGTCCCCAAATGAACCAATAATCCAACAAACGCTTCCACTAACTAGCTTCTGACCTGTTTGAGTTGTGATAGATTTTAGAATAAAAAAGCCTATCCTCCTTAGGAGCCATAGACTTTTATTCTTTCTTATACTGTCTTATATATTGACTTAGAGCTAAACTTCCTCCAATTCAGACATAAAGCATAGGCAGATACTTTTGCTAATGAGGCTAAGCTGGGAAGAAAACCCTGAGTTCTACTTTAATTCTTGGGCATTGACTTCAAACTAAGATGACTTATAAGAAATAAAAGAAGTAAATTTGAAACTTTAATAAAAAAAGTACATGGTTCATTTAAAAATGTTTCCTATGTCTAAATCTATATTTTAAAAATAACCTTTATCATGTAAAATGAGAGAATTGCTGAGTTTATGACAATCTTAGGTATAACCTTTTCTTAAAGAACAAGGCATCAATCTTTAATTTGTTTCCCTTTCTTGATTTCTCATAAGTTGCAAAATAAAAATAAAAATAATTTCACAAATTGTTCATTATTATTATCCTCCCTACTTGCCCCAGGATTTAAGTACTAACTTTTACTTCCTACTCTTAGACTTTGTATTGCCAAAGAAATAAAATATGAAAAAGCATAATCACCCAGACCTACCTGCGGAATTGTGGATTATGCTGTAGATATTAGATCATTGAAAGGAACAATATACTACTTAATGAGGAGCCAAAGACAACATTCTACCTGCTGCTCCCTTCAAGCTGAGGAATGAGTTTAATTGACTTCAAAGTCCCATTATTCTCAAAAGTAGCAAAGGTACAACATGGCTTTGCATGAATCAAAGGAAGGGAACAACAAGAACTTAAAAAAATAGTTTGCAGATGGTTGAACATCTCTTTAATAATTAGAGAAGAATATCTTTTCTTTCTTTATTGTTTACAGATACCAACATTTTTCAAAGCCTTGCAGTAGATGAGTGAGTCTCCTGTTACATTTCTCCTGCAGCATATATTCTGTGGATGTGTTTTCCTAAGCAGACTAATTATATGTTGCTCTCTTCTTTTACCCTAATGAAACATAGATTTTTCTGTTTTGAATTTGTCACTTGTTTGTTACATTTGTCAAGTGTTTTAAATATTACATTGGTCCTTTATTTGCTTTTGAGAACACCCAATAGTTTAAAAATTAAAATGACATGAAGGTCAATTCTAAGACAGGAATGATACTACTAAATCCTGGACTTGCCTATGATAACAAGCTCGAGCTACACACTTTTATTGTCAGAATAAATGGAATATATAGGAAGGAGTTAATTGGAACTGGTTAGTACCTAAATAAGATTTTTCAAAGTAAGTTTTTTGTCGTATTGGCAGAACAGTGTTAAAAAATAGACATTGTCATCATAAACACCCACAACTATATCTGTAGAAGATAATTTAATGCAATATTCTGGGGAAAATACAGTTGCCAAAATTAATCTCCTTGTTTTCTTTCATTGTGCAATGTGGAGTTAAATTTTTTTTCTATTGAGCAGTGTGTGTGTGTGTTTGTGTCTATAATTTATATATGTGCTTGTATACATTTCTATATACACATGTATGTGTATGCAAAATATGTATATATACACATATATATAAAATGTACACTAAATATGTATATATGTATATTCATAAAATGTTTTGCTGTATGGAAATAAAAAAGAAGGTTTCTAAAGGAAAGATAGAGAAGAAA)$ . 01BR032 ENSG00000137497.18 ENSG00000137478.15 -/- -/- chr11:72069842 chr11:73015885 5'UTR/splice-site CDS/splice-site duplication 6 7 1 91 16 high . . |Fes/CIP4__and_EFC/F-BAR_homology_domain(100%),SH3_domain(100%),Variant_SH3_domain(100%) . . ENSG00000137497.18 ENSG00000137478.15 ENST00000613205.4 ENST00000409418.9 upstream downstream duplicates(1),mismatches(1) ^(GCCTTCAAGTACAGGCCGGGGTCCGGAAGCGGTGATACCCCTTCTCTTTCCCAGTGGCCCTCAAACTTCCTTTTCCCGGGTCCTTAAGCGGGCCCCGCCGACAGAGGCCAATCAGAGGGCAGCGCGAGGGGGCGGG)GCCATAGTTTAAACTAATTGTGCGCTCACAGCGCTGGCGCGAGCCCACGAAGAGGTACGATTCCGGAGAATCGCGAGGCAGAGCGGGAGCGCGCAGCCAG___GTGGAAACTAATTCTAAGCCAGACTGCTGGAGATCACCCTGTTCTAGTGTGTGGAGGCTTCCACCAGGAG|GGTATGCAGAAGTTGGCTAGTCAATACCTGAAGAGAGATTGGCCTGGAGTAAAAGCTGATGATCGGAATGATTACAG___GAGCATGTATCCCGTTTGGAAATCTTTTCTCGAGGGAACAATGCAGGTAGCCCAGTCTCGGATGAATATATGTGAAAACTATAAAAACTTCATTTCTGAGCCTGCAAGGACAGTGAGAAGCTTAAAAGAACAGCAACTAAAAAGG___TGTGTGGACCAGTTGACAAAGATCCAAACTGAATTACAAGAG(ACAGTGAAAGATTTAGCTAAAGGCAAAAAGAAATACTTTGAGACTGAACAGATGGCTCATGCAGTACGAGAGAAAGCTGACATCGAGGCAAA___ATCTAAACTTAGTCTTTTTCAATCAAGAATCAGTTTACAGAAGGCAAGTGTAAAG___TTAAAAGCCCGGCGATCTGAGTGTAATTCCAAAGCTACCCACGCAAGGAATGATTATCTTCTTACCCTAGCGGCAGCAAATGCACATCAGGATCGCTACTATCAAACAGATTTAGTTAACATTATGAAG___GCTCTTGATGGAAATGTGTATGATCATCTCAAGGATTATTTAATAGCCTTCAGCCGGACTGAGCTAGAAACATGCCAAGCTGTGCAGAACACATTCCAGTTTTTATTAGAAAACTCCAGCAAG___GTGGTCCGGGACTACAATCTTCAGCTGTTTTTGCAAGAAAACGCTGTATTTCACAAACCCCAGCCCTTCCAGTTCCAGCCTTGTGACAGTGATACT___AGCCGACAGTTAGAATCAGAAACTGGGACCACAGAGGAGCACAGTCTAAATAAGGAAGCTCGAAAATGGGCCACACGTGTGGCACGTGAGCATAAAAACATTGTTCACCAACAACGG___GTTCTAAATGATCTGGAGTGTCATGGAGCTGCTGTATCAGAACAAAGCCGAGCAGAGCTAGAACAGAAAATAGATGAAGCTAGAGAAAATATTCGTAAAGCAGAG___ATAATTAAATTGAAAGCTGAAGCCCGGTTGGACCTGCTAAAGCAGATTGGTGTTTCTGTGGACACATGGCTAAAGAGTGCCATGAACCAAGTAATGGAAGAACTGGAAAATGAGCGATGGGCCCGCCCTCCTGCAGTGACCAGTAATGGCACTTTACACTCG___CTTAATGCAGATACCGAAAGAGAAGAAGGCGAAGAGTTTGAAGATAACATGGATGTTTTCGATGACAGCAGTTCCAGCCCTTCTGGCACCTTAAGAAATTATCCACTCACCTGCAAAGTTGTTTATTCCTACAAG___GCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAG___GCTCGAAATAAAGTTGGCCAAGTGGGTTATGTGCCAGAAAAGTACCTACAGTTTCCCACCTCGAACAGCCTCCTGAGCATGCTGCAGTCCCTGGCCGCTTTGGACAGTCGGTCACACACGTCCAGCAATTCCACGGAAGCAGAACTCGTTTCAGGCAGCCTCAACGGAGATGCCAGTG___TATGTTTTGTGAAAGCACTTTATGATTATGAGGGCCAGACAGATGATGAGTTATCTTTTCCTGAGGGAGCAATAATCCGTATCTTGAACAAAGAAAACCAAGATGATGATGGCTTCTGGGAAGGGGAATTCAATGGGCGTATTGGAGTTTTCCCATCGGTGCTAGTGGAAGAACTTTCAGCCTCAGAAAATGGTGACACTCCATGGATGAGAGAGATTCAG___ATCTCTCCTTCCCCCAAGCCACACGCCTCCCTGCCTCCACTGCCGTTGTACGACCAGCCTCCCAGCAGCCCCTACCCCAGCCCAGATAAGAGGAGCTCCCTGTACTTTCCCCGGTCTCCTTCAGCAAACG___AAAAAAGCCTTCATGCTGAGTCACCAGGATTCTCACAGGCATCAAGGCATACTCCTGAGACCTCATATGGCAAACTGCGACCT___GTCCGGGCAGCTCCCCCTCCACCTACACAGAATCACCGAAGGCCAGCAGAGAAGATTGAAGATGTGGAAATCACACTGGTGTGATGATGGGCTTGCCCATCCATTACTGCTACAATCAAGGCCAGGCTTGGAGTTTGGCCAGTCTTGTTTTTTAGGCACCTTTGCATGATGATGACTCTTGAACAGAGCAAAAAACAAGGAGGATTATGTGTGACTGGGTGGCCTGGTAGACTCCTCCCACGTTTTGAATATTTCGTGCCTTTTTTTTTTGTTGTCATTTTCTATGTCATTTCTCCTACCATAGCACAAATCCTAGCGGACCCTAGGAGCAAAGAGGGGGGCAGCCCTCATGCCTAACAGTGGTCTGTTTTTATATGAGACTCAAGAACAGGCCTCATTCCAGGGCACAGTCCCTAAATTACTGATCATGTGCACTCGTACAGTATATTACTGTGACCACAAGGATGTGGCAAAGATTCTCATCTTTCTTCAAGTGGCTTTTGCTCATCTGATTGAGAATTAATCAGATCATGTTGGCTACATAAGGAAACAGAAGGAGGGATTTCAGGAGAGGCTGGCTCCTCCCCAAGGTTAGTCCCCAGACTGAGAAAGTGAAACCTTATTGGGAAAAATTGGACTGCCCTGAATTTAGCACCAATTGCATTAACGCACATCTCTTCCACAACTAACAGACTTAAAATAACAGTGTCCTTCGTATTAATATCTGTGCCATTCATTTAGAATTAGCAGAGCTAATATGGAGGGGCTGAACTAGTAGCCACATCTTGTTCATCACATAGACTAATAGAAAGGAGGCTGTGGCTAAAGCAGAAATGGAACTTCCGGATCTGAAATTAGCCAATATAATGTTCTTTTGTATTTGGGTATTTTTCATCTTAATTTTTACAGCATATACTCTTCTTACCAGTATCCTTAGAATCCAAATGTCTAGATAAGTTGAGGACACATACCTGCATTGTTGAGCTTCTCTACTGGGGACGCCCCGGCATTATTTTATTCCCAAGCCAGCAGACCGGCCCAGACAGCCAGGCTGTGGCTGGTCCAGACCAACTGCTATGGTGGAAAATGCAGCTTCCAGGTCCCACTACCCTGACATTTCCGTGGAAGGAAGAACCTGGTGGCTCGTGGAGGAAACCAGCTTTCTATGAGAAAGGACTGAAGGATTGCGCACCCTGCACAAGTACAGATTGACCAGGAAAAGACAAGTGTCTTCTGTGTGTCACAGGGAAAGCCAGGAGTGGCCTTCTCTGCAGGCCAGCAAGCCTGCAGCAGCAGGTGCCCCCACGTCAGGTGCTGACTGTCTGCTGTCCGCTCCTGTAGAAGGTAGGGAGCACAATACCTAGGGACTAAGGGATGTTCGCCGGTTGTGGTTTGTTTTTTTTTTTTTTCCTTGGTTAAGAAATCAAATTTGCAGAATTTAATCTACAAGTTGTATTATGCTTTGAAAACTCCATCCCTCCTAAGAATCTTAAAAAACTTGAAATGCTCGCCAAATGTCCCCATGGGATTTTTGACCAAAAGTAAGGTGATAACTGAAGAAATTTTTAGTTCTTTGATCACTTCAGTGACAATACCCATTAATGAATCTTCTCCATGATTTGGGGTTTTTTTTCGTTGTTGTTTTTTACACTTCTTAACCTGTTGATCTATTTGAGGTCTTTTGTGTTTATCAAACTTATTCTTAAGTTTAAAAAAGAAATTAAAAGGGTGGTTTTTTTAAGATTTTAAAGTTTGCTAACATATTAAAAATCTTCAAATGCTTATTAAATAGAGCAGTTCTTGCCACCCAGTCTTGTATTCTGTCTTTAGCTAGCCAAATTGTCCTTGAATTTGGGTTTTCCACAACCTCAAAGGGTTATTTGAAATCTTTTGTTGTATTTTAAAATATTTTTTGGAAGAGCTGCTAATTTTATTTTAAAAAACAAAGTTGTGAAAACATGCCTCCTTTTTAAAAAATAACCCCTCCATCCAGGATATGGAATCCAGCACCACAGTGCACAGGTCAGGGCTCGGAGGGAGCCTCTGTGCAGATGTGCTTTCTTTACAGTGGCTGTAAAAAGTTTGTATTTATTATGTATAAAATGTTGAATAATAAAAAAAATGGAATTA)$ . 01BR032 ENSG00000112699.11 ENSG00000250903.9 -/- +/- chr6:2115771 chr6:2452333 CDS/splice-site intron duplication/5'-5' 1 6 0 145 15 high out-of-frame . GDP-mannose_4_6_dehydratase(100%)| . . ENSG00000112699.11 ENSG00000250903.9 ENST00000380815.5 . upstream downstream . ^(CTCCCTGCACGGCCTCCCGTGCGCCCCTGTCAGACTGTGGCGGCCGGTCGCGCGGTGCGCTCTCCCTCCCTGCCCGCAGCCTGGAGAGGCGCTTCGTGCTGCACACCCCCGCGTTCCTGCCGGCACCGCGCCTGCCCTCTGCCGCGCTCCGCCCTGCCGCCGACCGCACGCCCGCCGCGGGACATGGCACACGCACCGGCACGCTGCCCCAGCGCCCGGGGCTCCGGGGACGGCGAGATGGGCAAGCCCAGGAACGTGGCGCTCATCACCGGTATCACAGGCCAG___GATGGTTCCTACCTGGCTGAGTTCCTGCTGGAGAAAGGCTATGAG___GTCCATGGAATTGTACGGCGGTCCAGTTCATTTAATACGGGTCGAATTGAGCATCTGTATAAGAATCCCCAGGCTCACATTGAAGGAA___ACATGAAGTTGCACTATGGCGAT)CTCACTGACAGTACCTGCCTTGTGAAGATCATTAATGAAGTAAAGCCCACAGAGATCTACAACCTTGGAGCCCAGAGCCACGTCAAA|ATCGTGTCTTCAGtGTGTGAGGGAAACGGCTCTTCCAGCATCTTCTCAGCCCCTCTGCAGTGGACACTGACCAGTGTTTATAGAACCCAGTTTGAGACCCTCTTGGTGAATCTGGACAACTGAGCCATTCACTCTTCCTTA MAHAPARCPSARGSGDGEMGKPRNVALITGITGQDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTEIYNLGAQSHVK|ivssvcegngsssifsaplqwtltsvyrtqfetllvnldn* 01BR032 ENSG00000143324.14 ENSG00000283044.1(7794),ENSG00000117322.18(30200) +/+ ./+ chr1:180787854 chr1:207424030 CDS/splice-site intergenic deletion 3 2 0 84 7 high out-of-frame . SPX_domain(100%)| . . ENSG00000143324.14 . ENST00000367590.9 . downstream upstream . ^(ATGGAGAGGAGGAGGAAGATGGCGGGCGGGCTGCTCTGAAGAGACCTCGGCGGCGGCGGAGGAGGAGAGAAGCGCAGCGCCGCGCCGCGCCGGGGCCCATGTGGGGAGGAGTCGGAGTCGCTGTTGCCGCCGCCGCCTGTAGCTGCTGGACCCGAGTGGGAGTGAGGGGGAAACGGCAGGATGAAGTTCGCCGAGCACCTCTCCGCGCACATCACTCCCGAGTGGAGGAAGCAATAC)ATCCAGTATGAG___GCTTTCAAGGATATGCTGTATTCAGCTCAGGACCAGGCACCTTCTGTGGAAG___TTACAGATGAGGACACAGTAAAGAGGTATTTTGCCAAGTTTGAAGAGAAGTTTTTCCAAACCTGTGAAAAAGAACTTGCCAAAATCAACACATTTTATTCAG|GCGCAGCTGTAGCCGCTGATGAAGGGAGGAGTGAGTTGTGATAGAAGCCAGATTCTCCTTCCTGGAGGAGGCGCAAGAAATGCCATCAGCTCCTTCGGACACTGCCGGCACTGTTTACCTAACTCCCACAACTCAGCAGGGGTATAAGCACAATAAAAGG MKFAEHLSAHITPEWRKQYIQYEAFKDMLYSAQDQAPSVEVTDEDTVKRYFAKFEEKFFQTCEKELAKINTFYS|gaavaadegrsel* 01BR032 ENSG00000229852.4 ENSG00000285961.1 +/+ -/+ chr6:73270527 chr6:92155620 exon/splice-site intron deletion/5'-5' 3 1 0 7 4 high . . . . . ENSG00000229852.4 ENSG00000285961.1 ENST00000653052.1 . downstream upstream . ^GCCAGTGGCAATGACCCAGACCCGGACGACCCCCATTGCTGAGCCAGCGGAGCTGCTTG___GAGGCAGAGGTTGCAGTGAGCTGAGATTTTGCGACTACACTCCAACCTGGGCAACAGAGCGGGACTCCATTCCAAAAAAATAAGAAAAACAGAAAAATAATAATTACATCTGCAAAGACCTTATTTCCAG|GTGAATGTTATCAGGTGACCTGTGAAAAGGATGTCCATAGGCTCAAAG___CTACATATTTGTGTGCAGCAAGATCTTCATCAAAATAATTTACAGTAGATTGAAGGCAGAGAAGATATGAAAAATGAAAATC . 01BR032 ENSG00000134369.15 ENSG00000285280.2 +/+ -/- chr1:201803714 chr1:192239790 CDS/splice-site exon/splice-site inversion 1 3 0 57 3 high out-of-frame . . . . ENSG00000134369.15 ENSG00000285280.2 ENST00000367302.5 ENST00000643151.1 downstream downstream . ^(TACGCCTCCGCCATCCCGGTGCCTCGTGCCTCTTCCCAGACCAGGATTCCTACACCGGGCGCTTCTCCCCAGCTGCGGCCACGCCAGGCCGGCCTGGCCCTGAGCCCACAGAGAGCAGCCTCCCCCAGACTGGGAAAGGCTGCAGGTCCTTCTAGAAACTCCTCTCCTAGGGCCTTCCGGGGGAGAGGCTCTCCCAAGTTTGCTGGGGCGGTGAGGGAGTCAGCTGAGGATGGGGAAGGCCCCTTCAGCTCCCCATGGAATAGTCCCAGGACAACCCCGAAAGCAGCCCTCTCCAGCCGGGCTGGATCCGGAAGAATTGGCGAGAGACAAGGCACCCAGGGAAAGAAGAAAAAAGCCCAGGAAGGGACTCCAGTCTGCCAGACCCGGGGCAGAAGCCCTTCTCGGACGAGCTTTCACGGAGAAACTCAAATACCAGGGGCTCCGGAAGGTCGGAAGCCTCCAAGCTGCCCAGGAAAAGACCAAAGAGATATAAACTACAAAAGTTCTGGGACCCCCAGGTCTTTGGAGCCTGATGAGGGGGCAGCTTCGTGGGCTTCCTCTCCAGTCTGCAGCCCAGTGCAGGGCAAGCGCCCCTCTCCCTCTCCGGGGGCCATTAGCTTCTCCTCAGTCCATCAGCAGAGTCAGCCAGTCACAGCCACGGTGGCCCCCTTCCAGTACAG___GTTGCAAACTGACCAGAAACCTGGCCCCCTCTCCCAGGGCAGCTGGCCCCTTGATGGCTATGCTGAGCCCCTCCATGAGACTGAGGAGAGCTTCTCCTGCATGG___ACGCGCGGATCGTCCATGCGCTCCTCGCGGGCAGAATGCTGGGCAGCAGCGTCAAGAGCGTGCAGCCCGAGGTGGAGCTGAGCAGCGGCGGCGGCGACGAGGGCGCGGACGAACCGCGGGGCGCCGGCAGGAAGGCGGCAGCGGCGGACGGCAGAGGCATGCTGCCCAAGCGCGCCAAGGCGCCCGGCGGCGGCGGCGGCATGGCCAAGGCCAGCGCGGCTGAGCTGAAGGTCTTCAAGTCCGGCAGCGTGGACAGCCGTGTCCCCGGCGGGCCGCCCGCCTCCAACCTGCGCAAGCAGAAGTCACTCACCAACCTCTCTTTTCTCACGGACTCCGAGAAAAAGCTGCAGCTTTATGAGCCCGAATGGAGCGACGATATGGCCAAGGCGCCCAAAGGCTTAGGCAAGGTGGGGTCCAAGGGCCGTGAAGCTCCGCTGATGTCCAAGACGCTGTCCAAGTCGGAGCACTCGCTCTTCCAGGCCAAGGGCAGCCCGGCGGGCGGCGCCAAGACCCCCCTGGCTCCGCTCGCGCCCAACCTGGGAAAGCCGAGCCGGATCCCTCGAGGACCCTATGCGGAGGTCAAGCCGCTCAGCAAGGCGCCTGAAGCGGCCGTGAGCGAAGATGGCAAATCGGACGACGAGCTGCTCTCCAGCAAGGCCAAGGCGCAAAAGAGCTCTGGGCCTGTCCCCTCTGCCAAGGGCCAGGAGGAGCGCGCCTTCCTCAAGGTGGACCCCGAGCTGGTGGTGACCGTGCTGGGAGACCTGGAGCAGCTGCTCTTCAGCCAGATGCTGG___ACCCAGAGTCCCAGAGAAAGAGGACAGTGCAGAATGTCCTGGATCTCCGGCAGAACCTGGAAGAGACCATGTCCAGCCTGCGAGGGTCCCAGGTGACTCACAG___CTCCCTGGAGATGACCTGCTACGACAGCGATGATGCCAACCCACGCAGCGTGTCCAGCCTCTCCAACCGCTCGTCCCCTCTGTCATGGCGCTATGGCCAGTCCAGTCCGCGGCTGCAGGCTGGTGACGCGCCCTCTGTGGGTGGGAGCTGCCGCTCGGAGGGGACGCCCGCCTGGTACATGCACGGCGAACGGGCCCACTACTCCCACACCATGCCCATGCGCAGCCCCAGCAAGCTCAGCCATATCTCCCGCCTGGAGCTGGTCGAATCCCTGGACTCGGATGAGGTGGACCTCAAGTCCGGCTACATGAGCGACAGTGACCTCATGGGCAAGACCATGACGGAGGATGATGACATCACTACCGG___CTGGGATGAAAGCAGCTCCATCAGTAGTGGACTCAGCGATGCCTCAGACAATCTCAGTTCAGAAGAATTCAATGCCAGCTCCTCACTCAACTCCCTCCCAAGTACTCCCACTGCTTCTCGCAGGAACTCAACAATAGTG___CTACGCACAGACTCAGAGAAGCGCTCACTGGCAGAAAGTGGGCTGAGCTGGTTTAGTGAATCAGAGGAGAAAGCCCCTAAAAAACTGGAGTACGACAGTGGTAGCCTGAAGATGGAACCTGGGACTTCTAAGTGGCGGAGGGAGCGGCCTGAGAGCTGTGATGATTCATCCAAGGGTGGAGAACTGAAAAAGCCCATCAGCCTGGGCCACCCTGGTTCCCTGAAGAAGGGCAAGACCCCACCTGTGGCTGTAACTTCCCCCATCACTCACACAGCCCAGAGTGCCCTCAAAGTCGCAG___GCAAACCTGAGGGCAAAGCTACAGACAAGGGTAAGCTTGCAGTGAAGAATACTGGGCTCCAACGCTCCTCCTCTGATGCTGGTCGGGACCGCCTGAGTGATGCTAAGAAGCCCCCCTCGGGCATTGCTCGCCCCTCCACTTCGGGATCCTTTGGCTACAAGAAGCCTCCTCCTGCCACAGGCACAGCCACTGTCATGCAAACTGGTGGTTCAGCCACTCTCAGCAAGATCCAGAAGTCCTCAGGCATCCCTGTCAAGCCAGTAAATGGGCGCAAGACTAGCTTAGATGTTTCCAACAGTGCAGAGCCAGGATTCCTGGCTCCTGGAGCCCGTTCTAACATCCAGTACCGCAGCCTGCCCCGGCCAGCCAAGTCAAGTTCTATGAGCGTGACCGGCGGGCGGGGTGGACCTCGCCCTGTGAGCAGCAGCATTGACCCCAGTCTCCTCAGCACCAAGCAGGGAGGCCTTACGCCTTCCAGACTGAAGGAGCCTACCAAGGTAGCCAGTGGGCGGACCACTCCAGCCCCTGTCAATCAGACAGATCGGGAAAAGGAGAAGGCCAAAGCCAAGGCAGTGGCCTTGGACTCAGACAACATCTCCTTGAAGAGTATTGGCTCCCCAGAAAGTACTCCCAAGAACCAAGCAAGCCACCCCACAGCCACCAAGCTGGCAGAGCTGCCACCAACCCCTCTCAG___GGCCACAGCGAAGAGCTTTGTCAAACCACCCTCACTAGCCAATCTTGACAAGGTCAACTCCAACAGTCTGGATCTACCATCATCCAGTGATACCACCCATGCTTCAAAGGTCCCAGATCTGCATGCTACAAGCTCAGCATCTGGGGGCCCTCTCCCTTCCTGCTTCACCCCCAGTCCGGCACCCATCCTCAATATTAACTCAGCCAGCTTCTCCCAGGGCCTGGAGCTAATGAGTGGTTTCAGTGTGCCAAAAGAGACCCGCATGTACCCCAAACTCTCAGGCCTGCACAGGAGCATGGAGTCCCTCCAGATGCCAATGAGCCTCCCCAGTGCCTTCCCCAGCAGTACTCCCGTCCCCACCCCACCTGCTCCCCCTGCTGCTCCCACAGAAGAAGAGACGGAAGAGCTGACTTGGAGTGGAAGCCCCAGAGCTGGGCAACTGGACAG___TAATCAGCGGGATCGGAACACTCTTCCCAAGAAAGGGCTCAG___GTACCAGCTTCAGTCCCAGGAGGAGACCAAGGAGAGGCGACATTCCCATACCATTGGTGGGCTGCCTGAATCCGATGACCAGTCAGAGCTGCCTTCTCCCCCTGCACTTCCCATGTCTCTGAGTGCAAAGGGCCAACTTACCAACATAG___TTCACGGCTCAGTGCTGTCCCTGGCCTCCAGTGCCTCCTCCACCTACTCCTCA___GCTGAGGAGAGGATGCAATCTGAG___CAAATCCGGAAGCTTCGTAGGGAACTGGAATCATCCCAGGAAAAAGTGGCCACCTTGACGTCTCAGCTTTCTGCCAAT___GCTAATCTGGTGGCTGCTTTTGAGCAGAGCCTGGTGAATATGACATCCCGCCTGCGACACCTGGCAGAGACGGCCGAGGAGAAG___GACACTGAGCTGCTGGATTTGCGAGAAACCATAGACTTTCTGAAGAAAAAGAACTCTGAGGCCCAGGCAGTCATTCAGGGAGCCCTTAATGCCTCAGAAACCACACCCAAAG___AACTTCGGATCAAGA)GACAAAACTCCTCAGATAGCATCTCAAGCCTC?ACAGCATCACTAGCCATTCCAGCATCGGCAGCAGCAAGGATGCTGATGCGAAAAAGAAGAAAAAAAAGAGTTGG|ACATGTGaCAGGCAAGTTAATCTTCAGTGGAATATGCAAATAGGATTTCTGAATTTGGCATGCAAATGAATTTGAGAG___CTTCTGGGAGCATCTCTTCCAAGATTCTG(___GCTCAGAGGTGGAAGAGACTTGCCTTGTCTCAG___CACTTTTTTCTCCTCCTGCCTTGTGAAGAAGTTTGTGTTCACTTCCCCTTCTGCCATGATTGGAAGTTTCCTGAGGCCTCCCAGCCATGTGAAACT___GTAAATGAGCGTGATCGTCTCCTAAGATTTGTTGGTCTCTGAGGTCTTCCTTCCATCAAGTCTAAATAGATGTCAGATTTCAGAAAACGTGTATAACTGTCTTGTTCCATGAGCTGATACACTCTGCTTTGTGCAGCATCAAAACTGTGGAGG___GGTCAGTATCTTAGTATGCTTTGCTTAATAGTTGCTATAAAGTGGATTTCTGAAGAGAATTTCTTGGCTAGATATTAAGAAAAAACTGGAAGCAGGACAACAAAATAATTGTGAGAAGATTTTCAGGTAATCCTAATTAAAAAGAAAACAAAAAGTAGTCATATGGAAATGTGCCTTCTGCTGATATTAAAAAGCATACCATTGGGTGTTATTGATCTGTTTGTCTATGATATAGGTCCTGCCTTTCCCCATTTCACAAAAAGAGGCATTTTATCTTGTCCTTCCTTGTTCCTCAGTTACTATTTAAATAGAAATTAAAGCAAAGTTGGCAAAATAAAATGCCAGTTACATTACAAGGAAAGAACAACCTGTTTCAAGGTCATATTTCCAAAGAGGAAAGAAAGTATGTTTTATTTGGCTTATAAATAAAGTAGCACTGACCCAGTGAAAGCATAAACGTTTTCGATTTTAATCTACTGCACTCTAGCCACATGTTATGCATAAGCGTGGATTGATCAGTTTTTAAATATCAAATTATTCCTAAAGTGAGTTATTAAATAATTTTCATGATTTCAGAAGAATATGACCATTACTTCTATAACCAATCAGAATTATAATAAATTTTTTGTACTGTCAGCTAAAAGAAAATGCCCAGAAGCCAGATAGCTGAAATTGTTATTTATTAAAATAACTTTTTAACCTATAATTACTGATTTTAAAAATAACTTAGTCTGAACCTGAGAACTGTGTTATGTATTTAAGCAGTATTTACAGGTTAGGAGTTTTGAGTGTTCGTTAAGGTCTTAGCACATTGCTGTATGCCTTTTATTGGCACAATTCCATTTAATTTTCACATCAGCCCTACGGAGTAAGTCTTGTTATACTCATGTTTATAGATGAAGAAGTTGACGTTCAAAGAGTTAACTTGCATTAAATCTTACAGACAGTAAAAGATAGTGTAAGTGCTTGAACCCAGGTTCATCTTATTTAAAATTACAGGACCTTTACAACTAAACTGCCGTAAAGAAAAGAAAGTCCTTACTGTTGAGGAATATGGAGATTAATGGGCAGGACAGGCATGTATGAACCAAGGACTGAGGAAGCACAATTAAAAGAGTGACTTATTCTGTTCAAAGTAGCAGAGGAAAATCAACTTGCATAAAATTCAAATAGAAGTCTTCCAGAAAATAACATAAACATTATTTCAAATAGAGTCCTTCACTAATTCACAAGCATGAGTGTCGACTCTGTGCCATCTGCTGCGCTCTGAAATATTATGCAAAAGCCCTTTGTTACTATGGTTAGTCTTGTGCTTGATACAGACATTCAAAGTGAAGTCAGCGTACTAATATCAAGAAAAGTGCTATGTATGTTCTGAGTGCTCATGATGCATTAACTAAAGTGAATGGATTTTGTTGGCATAATATGAATATAATAGTAAAGCAAAAATACTAATTCAAGAAATGAATAAAGGATGAATGAGAAAGAAGTTTATTAATTAAAATTTTAAGTAAATAACTTTTTTAAAGTAATGTGCAATGCTCTACAAGATTATCCCAGCACATTAGTTACTTCCTGTTTCTCTTACTCACTTTGGGCAGCTGCATTAAGTCAGTTCACAATGGAACCATTTCTCATACAGAGGCAGTAACTTACTAAACAGTCCTTTAGAAGGCAGCAGTGGTGAATGCAGCTGCCAAAAGTGCTTGATAGAACCTGGGATTAGAATTCACACTGGAAGAAGCTGGCTCAATGTGTCATACAAATATGAAATGCATGTAATTGCATGTTTCTAAATTGAAACTCTGGCATCTGTTGGAGTATTTTTCTGATGCCAAGAAACCAAATGAAACAAAAAGTCAAGAAAATCTGAAGTTGGAAACCCAAGTACCATATAATATCCGAAGTAATAAGTTGCATTGTTTCTTCTGTAACATTTGGCTTTGTAGCTCTGATTTGCCATAGAATGTGGTTTCTTTTGCCATAATAAATGATTTATGTGATGA)$ MDARIVHALLAGRMLGSSVKSVQPEVELSSGGGDEGADEPRGAGRKAAAADGRGMLPKRAKAPGGGGGMAKASAAELKVFKSGSVDSRVPGGPPASNLRKQKSLTNLSFLTDSEKKLQLYEPEWSDDMAKAPKGLGKVGSKGREAPLMSKTLSKSEHSLFQAKGSPAGGAKTPLAPLAPNLGKPSRIPRGPYAEVKPLSKAPEAAVSEDGKSDDELLSSKAKAQKSSGPVPSAKGQEERAFLKVDPELVVTVLGDLEQLLFSQMLDPESQRKRTVQNVLDLRQNLEETMSSLRGSQVTHSSLEMTCYDSDDANPRSVSSLSNRSSPLSWRYGQSSPRLQAGDAPSVGGSCRSEGTPAWYMHGERAHYSHTMPMRSPSKLSHISRLELVESLDSDEVDLKSGYMSDSDLMGKTMTEDDDITTGWDESSSISSGLSDASDNLSSEEFNASSSLNSLPSTPTASRRNSTIVLRTDSEKRSLAESGLSWFSESEEKAPKKLEYDSGSLKMEPGTSKWRRERPESCDDSSKGGELKKPISLGHPGSLKKGKTPPVAVTSPITHTAQSALKVAGKPEGKATDKGKLAVKNTGLQRSSSDAGRDRLSDAKKPPSGIARPSTSGSFGYKKPPPATGTATVMQTGGSATLSKIQKSSGIPVKPVNGRKTSLDVSNSAEPGFLAPGARSNIQYRSLPRPAKSSSMSVTGGRGGPRPVSSSIDPSLLSTKQGGLTPSRLKEPTKVASGRTTPAPVNQTDREKEKAKAKAVALDSDNISLKSIGSPESTPKNQASHPTATKLAELPPTPLRATAKSFVKPPSLANLDKVNSNSLDLPSSSDTTHASKVPDLHATSSASGGPLPSCFTPSPAPILNINSASFSQGLELMSGFSVPKETRMYPKLSGLHRSMESLQMPMSLPSAFPSSTPVPTPPAPPAAPTEEETEELTWSGSPRAGQLDSNQRDRNTLPKKGLRYQLQSQEETKERRHSHTIGGLPESDDQSELPSPPALPMSLSAKGQLTNIVHGSVLSLASSASSTYSSAEERMQSEQIRKLRRELESSQEKVATLTSQLSANANLVAAFEQSLVNMTSRLRHLAETAEEKDTELLDLRETIDFLKKKNSEAQAVIQGALNASETTPKELRIKRQNSSDSISSL?SITSHSSIGSSKDADAKKKKKKSW|tcdrqvnlqwnmqigflnlack* 01BR032 ENSG00000143324.14 ENSG00000283044.1 +/+ -/+ chr1:180787854 chr1:207415636 CDS/splice-site intron deletion/5'-5' 2 1 0 84 4 high out-of-frame . SPX_domain(100%)| . . ENSG00000143324.14 ENSG00000283044.1 ENST00000367590.9 . downstream upstream . ^(ATGGAGAGGAGGAGGAAGATGGCGGGCGGGCTGCTCTGAAGAGACCTCGGCGGCGGCGGAGGAGGAGAGAAGCGCAGCGCCGCGCCGCGCCGGGGCCCATGTGGGGAGGAGTCGGAGTCGCTGTTGCCGCCGCCGCCTGTAGCTGCTGGACCCGAGTGGGAGTGAGGGGGAAACGGCAGGATGAAGTTCGCCGAGCACCTCTCCGCGCACATCACTCCCGAGTGGAGGAAGCAATACATCCAGTATGAG___GCTTTCAAGGATAT)GCTGTATTCAGCTCAGGACCAGGCACCTTCTGTGGAAG___TTACAGATGAGGACACAGTAAAGAGGTATTTTGCCAAGTTTGAAGAGAAGTTTTTCCAAACCTGTGAAAAAGAACTTGCCAAAATCAACACATTTTATTCAG|GAGCTTCGGCAGACTCACGTCTCAACGTCCGGGAGCTTCGGCAGACTAGCGCCTCAAGAACCCAGCTCTCTGAAGAATTTATTTGGCCAGGAGCTTCATCAGACTCACGTCTCAAAAACCGAG MKFAEHLSAHITPEWRKQYIQYEAFKDMLYSAQDQAPSVEVTDEDTVKRYFAKFEEKFFQTCEKELAKINTFYS|gasadsrlnvrelrqtsasrtqlseefiwpgassdsrlknr 01BR032 ENSG00000270231.4 ENSG00000134376.16 +/+ +/- chr1:120466096 chr1:197273521 exon intron inversion/3'-3' 7 9 0 77 36 medium . . . . . ENSG00000270231.4 ENSG00000134376.16 ENST00000652355.1 . downstream downstream . ^(GCAATCTGAAAGCAAATCCTGTTTAGATGCAGGCGAAGGTTCCTGGTGACCCAGGCTCTCACCTTACCGTCCCTTACCGTCCTCCTGAGGGTGTCCTGGAGCTTCAGTGCTGTGTGTTCTTGGCCTCCACGCTGGGGGTGCCACCAACTCCCACTGTCCAGGGCTTCCAGTGGACTCTCCGAGGTACTGATGTAGAAACTTCCCCATTCGGTGCACCAAGAGCAACCTCACACGGTGTGGGCCGAATGAAGAGCTGCCAGATCCCACAG___AAATGTGATTGATAACAGTAAAGCCACACTCCTCAAGTGCCTGAAATACCCCTCATTGTCTTCTTCAGGTGGCAAGGGCTCTGGAACAGCCACATAAAG___CCCTTGAAGATAAGGATGGTCAAACAAAATAATATCATACCTGGAGAAACTCAGATCTTGCTAAGATTTACTGGTTGGGAATCCAAAGTTAATGCCAAGAAGCAGCCGCCAGTTGGGATCAAATGTGAGCCTATGGATCAAG___ACGGTTACCTGGCACGCTGGCCACAATCTACCTCACTCTTATCAGAGTCTGAGCTACTGGCAGTGCTTTCAGCTCTGAGTTGAGGCACCTCGAACCTTGTTTTTGTGGTGAAGGATCCTAAAGTGCTGTGGGAGTGATCACATTTTTCACAACA___TCCCTGACTCCACCTCTTCTGCCACAAACGTCAGCATGGTGGTATCAGCCGGCCCTTGGTCCAGCGAGAAGGCAGAGATGAACATTCTAGAAATCAACGAGAAATTGCGCCCCCAGTTGGCAGAGAACAAACAGCAGTTCGTAAACCTCAAAGAGAGATGTTTTCTAACTCAACTGGCCGGCTTCCTGGCCAACCGACAGAAGAAATACA___AGTATGAAGAGTGTAAAGACCTCATAAGATTTATGCTGAGGAATGAGCGACAGTTCAAGGAGGAGAAGCTTGCAGAGCAGCTCAAGCAAGCTGAGGAGCTCAG___GCAATATAAAGTCCTGGTTCACTCTCAGGAACGAGAGCTGACGCAGTTAAAGGAGAAGTTACAGGAAGGGAGAGATGCCTCCCGCTCATTGAATGAGCATCTCCAGGCCCTCCTCACTCTGGATGAGCCGGACAAGTCCCAGGGGCAGGACCTCCAAGAACAGCTGGCTGAGGGGTGTAGACTGGCACAGCACCTTGTCCAAAAGCTCAGCCCAG___AAAATGACGAAGATGAGGATGAAGATGTTCAAGTTGAGGAGGATGAGAAAGTGCAGAAATCATCTGCCCCCAG___GGAGGTGCAGAAGGCTGAAGAGAGCAAAGTCCCTGAGGACTCACTGGAGGAATGTGCCATCACTTGTTCAAATAGCCACGGCCCTTGTGACTCCAACCAGCCTCACAAGAACATCAAAATCACATTTGAGGAAGACGAAGTCAACTCAACTCTGGTTGTAGACAGAGAATCCTCTCATGATGAATGTCAGGATGCTCTAAACATTCTCTCAG___TCCCTGGCCCCACCTCTTCTGCCACAAACGTCAGCATGGTGGTATCAGCCGGCCCTTTGTCCAGCGAGAAGGCAGAGATGAACATTCTAGAAATCAATGAGAAATTGCACCCCCAGCTGGCAGAGAAGAAACAGCAGTTCGTAAACCTCAAAGAGAAATGTTTTCTAACTCAACTGGCCGGCTTCCTGGCCAACCGACAGAAGAAATACA___AGTATGAAGAGTGTAAAGACCTCATAAGATTTATGCTGAGGAATGAGCGACAGTTCAAGGAGGAGAAGCTTGCAGAGCAGCTCAAGCAAGCTGAGGAGCTCAG___GCAATATAAAGTCCTGGTTCACTCTCAGGAACGAGAGCTGACGCAGTTAAAGGAGAAGTTACAGGAAGGGAGAGATGCCTCCCGCTCATTGAATGAGCATCTCCAGGCCCTCCTCACTCTGGATGAGCCGGACAAGTCCCAGGGGCAGGACCTCCAAGAACAGCTGGCTGAGGGGTGTAGACTGGCACAGCACCTTGTCCAAAAGCTCAGCCCAG___AAAATGACGAAGATGAGGATGAAGATGTTCAAGTTGAGGAGGATGAGAAAGTGCAGAAATCATCTGCCCCCAG___GGAGGTGCAGAAGGCTGAAGAGAGCAAAGTCCCTGAGGACTCACTGGAGGAATGTGCCATCACTTGTTCAAATAGCCACGGCCCTTGTGACTTCAACCAGCCTCACAAGAACATCAAAATCACATTTGAGGAAGACGAAGTCAACTCAACTCTGGTTGTAGACAGAGAATCCTCTCATGATGAATGTCAGGATGCTCTAAACATTCTCTCAG___TCCCTGGCCCCACCTCTTCTGCCACAAACGTCAGCATGGTGGTATCAGCCGGCCCTTTGTCCAGCGAGAAGGCAGAGATGAACATTCTAGAAATCAATGAGAAATTGCACCCCCAGCTGGCAGAGAAGAAACAGCAGTTCAGAAACCTCAAAGAGAAATGTTTTCTAACTCAACTGGCCGGCTTCCTGGCCAACCGACAGAACAAATACA___AATATGAAGAGTGCAAAGATCTCATAAAATCTATGCTGAGGAATGAGCGACAGTTCAAGGAGGAGAAGCTTGCAGAGCAGCTCAAGCAAGCTGAGGAGCTCAG___GCAATATAAAGTCCTGGTTCACACTCAGGAACGAGAGCTGACCCAGTTAAGGGAGAAGTTGCGGGAAGGGAGAGATGCCTCCCTCTCATTGAATGAGCATCTCCAGGCCCTCCTCACTCCGGATGAGCCGGACAAGTCCCAGGGGCAGGACCTCCAAGAACAGCTGGCTGAGGGGTGTAGACTGGCACAGCACCTTGTCCAAAAGCTCAGCCCAG___AAAATGACAACGATGACGATGAAGATGTTCAAGTTGAGGTGGCTGAGAAAGTGCAGAAATCGTCTGCCCCCAG___GGAGATGCAGAAGGCTGAAGAAAAGGAAGTCCCTGAGGACTCACTGGAGGAATGTGCCATCACTTATTCAAATAGCCATGGCCCTTATGACTCCAACCAGCCACATAGGAAAACCAAAATCACATTTGAGGAAGACAAAGTCGACTCAGCTCTCATTGGCTCATCCTCTCATGTTGAATGGGAGGATGCTGTACACATTATTCCAG___AAAATGAAAGTGATGATGAGGAAGAGGAAGAAAAAGGACCAGTGTCTCCCAG___GAATCTGCAGGAGTCTGAAGAGGAGGAAGTCCCCCAGGAGTCCTGGGATGAAGGTTATTCGACTCTCTCAATTCCTCCTGAAATGTTGGCCTCGTACAAGTCTTACAGCAGCACATTTCACTCATTAGAGGAACAGCAAGTCTGCATGGCTGTTGACATAGGCA___GACATCGGTGGGATCAAGTGAAAAAGGAGGACCAAGAGGCAACAGGTCCCAG___GCTCAGCAGGGAGCTGCTGGATGAGAAAGGGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAACTCCTTCAGGTTGCCTTGAACTGACTGACTCATGCCAGCCCTACAGAAGTGCGTTTTACATATTGGAGCAACAGCGTGTTGGCTTGGCTGTTGACATGGATG___AAATTGAAAAGTACCAAGAAGTGGAAGAAGACCAAGACCCATCATGCCCCAG___GCTCAGCAGGGAGCTGCTGGATGAGAAAGAGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCGACTCCTTCAGGTTATCTTGAACTGCCTGACTTAGGCCAGCCCTACAGCAGTGCTGTTTACTCATTGGAGGAACAGTACCTTGGCTTGGCTCTTGACGTGGACA___GAATTAAAAAGGACCAAGAAGAGGAAGAAGACCAAGGCCCACCATGCCCCAG___GCTCAGCAGGGAGCTGCTGGAGGTAGTAGAGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAACTCCTTCCAGTTGTCTTGAACAGCCTGACTCCTGCCAGCCGTATGGAAGTTCCTTTTATGCATTGGAGGAAAAACATGTTGGCTTTTCTCTTGACGTGGGAG___AAATTGAAAAGAAGGGGAAGG)GGAAGATAAGAAGGGGAAGAAGATCAAAGAAGAAAAGAAGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAACCCACCATGCCCCAG___GCTCAACAGCGTGCTGATGGAAGTGGAAGAGCCTGAAGTCTTACAGGACTCACTGGATAGATGTTATTCGACTCCATCAATGTACTGTGAACTACGTGACTCATTCCAGCACTACAGAA|GAGAGAGATCATAACTCCAAACTTCTTAAGTGTGGGTTACACACAGTGACTTCCTTTTCTAAGAGTACAGTATGGAGAAGAATAAAAGACATAACTTTATAGTTATCAGGGAAACCTGATAACACCACCTCCCAG___CCCATAACTCCAGTTTCACCATGAGGAAAACACAAAACTAACTCCAATATTGGGAGAATCTATAAAATACCTGGCCAcAACTCAAAACCTTCAAGGTCATCAAAAACAAGGAAAGCCTGAGGAACTGTCACAGCCAAGAGGAACCTCAAAATACAAGACAGCAAAATGTACTGTGATATCTTGGAT . 01BR032 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 7 4 0 512 19 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream . ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGAAGCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCT)TCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTACCTCAAGTTTCTTCATCT MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 01BR032 ENSG00000168000.14 ENSG00000121653.11 -/- +/- chr11:62692324 chr11:45901538 intron intron deletion/5'-5' 4 4 0 11 5 medium stop-codon . . . . ENSG00000168000.14 ENSG00000121653.11 ENST00000405837.5 . upstream downstream . ^(CCTAAGAGTTCCTCTGCTGTACGACTGCACTCCCGCACCCTCCCCTAAATCCCCCCTCTTCGGCCTGTTTACCTTTTAACTTGGCTTCGTTGCACGTTTGTGTGTGTGTGTTTGCTCTTCGCAGCCTCTTGAGCGTCTTTTGTACTTAATTCTTACACTGTGGACGCTCTCTCGCGCCCGCCATCCCCCGACCCCTCTGATCTCCGATCCTTGACGATGTCTAGCCTGCATTGATTGGCCCTTTTCCCTGGGTATGGCAGATCTATTGCTTGATGATCCTCTCCCCCCAAGAATTCTAACACAGGAGCTGTCCTGAGGCTCTGGATGACTTTATTCTTCAAATGGCTTTACCCTCCCAGTAGCTCCAG___GGACCCTCCATTTTCCATATCCAGGAAAATGTGATGCGCCACAGGTATCAGCGTCTGGATCGCCACTTCACGTTTTAGCCACAAGTGACTCAGTGGAAGATCCAGAGTCAACAGAGGCTCGTCAGGAAGATGTCTACAGAAAAGGTAGACCAAAAGGAGGAAGCTGGGGAAAAAGAGGTGTGCGGAGACCAGATCAAAGGACCGGACAAAGAGGAG___GAACCACCAGCTGCTGCATCCCATGGCCAGGGGTGGCGTCCAGGTGGCAGAGCAGCTAGGAACGCAAGGCCTGAACCTGGGGCCAGACACCCTGCTCTCCCGGCCATGGTCAACGACCCTCCAGTACCTGCCTTACTGTGGGCCCAGGAGGTGGGCCAAGTCTTGGCAGGCCGTGCCCGCAGGCTGCTGCTGCAGTTTGGGGTGCTCTTCTGCACCATCCTCCTTTTGCTCTGGGTGTCTGTCTTCCTCTATGGCTCCTTCTACTATTCCTATATGCCGACAGTCAGCCACCTCAGCCCTGTGCATTTCTACTACAG___GACCGACTGTGATTCCTCCACCACCTCACTCTGCTCCTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTGGACGTGATCGG___GTGCTGATGTATGGACAGCCGTATCGTGTTACCTTAGAGCTTGAGCTGCCAGAGTCCCCTGTGAATCAAGATTTGGGCATGTTCTTGGTCACCATTTCCTGCTACACCAGAGGTGGCCGAATCATCTCCACTTCTTCGCGTTCG___GTGATGCTGCATTACCGCTCAGACCTGCTCCAGATGCTGGACACACTGGTCTTCTCTAGCCTCCTGCTATTTGGCTTTGCAGAGCAGAAGCAGCTGCTGGAGGTGGAACTCTACGCAGACTATAGAGAGAACTCG___TACGTGCCGACCACTGGAGCGATCATTGAGATCCACAGCAAGCGCAT)CCAGCTGTATGGAGCCTACCTCCGCATCCACGCGCACTTCACTGGGCTCAGGTGAGGGGCCAACTGGAGTGAACCTTGGGCAACTCTTCACGGGGGCTAACCT|GGGAAGTTATGGCCTAGAAGGGGTGAGGACCTTCTGGTAGAGCCTGGAAAAAGCACAAGGAAGGGTCTCCCTAGCAGCTGGCCTGGGGGACCAGGATGAATCATCCCAGTGACAAATCCATAACAGAGTTTTCCTGCACCCCCCACCACAGTGGCATGAGACTGAGG . 01BR032 ENSG00000234857.2 ENSG00000121653.11 -/- +/- chr11:62692324 chr11:45901538 intron intron deletion/5'-5' 4 4 0 11 5 medium stop-codon . AAA_domain(100%),SAP_domain(100%),SPRY_domain(100%)| . . ENSG00000234857.2 ENSG00000121653.11 ENST00000403734.2 . upstream downstream . ^(GTTTTGGGCTCCGTGAGCCGAAAGGGGGAGGGGAGACGAAGGAGAAGCAAACACTGCGCAGCGGGACCGTGCGCGGCCTCCGCTCCTGCGTGCGTGCGCTCGCTCGCGCGGGCTCAGTGCTGGCGCGTGAGGCGGAGGCGGGCGGCGGCGGCGGCGCCTGCGCGGTCGGACTCGGTCGACGGTTCGCAGGGGAGGAGGCGGCGGGAGGCGGAGGAGGCGGCGGCGGCGATGGAGGTGAAGCGGCTGAAAGTGACCGAGCTGCGGTCGGAGCTGCAGCGGCGGGGCCTGGACTCGCGCGGCCTCAAGGTGGATCTGGCGCAGCGGCTGCAGGAGGCGCTGGACGCCGAGATGCTCGAGGACGAGGCCGGCGGCGGCGGGGCCGGGCCCGGCGGGGCCTGCAAGGCGGAGCCTCGGCCTGTGGCCGCGTCGGGCGGCGGCCCGGGCGGGGACGAGGAGGAGGACGAAGAGGAGGAGGAGGAGGACGAGGAGGCGCTGCTTGAGGACGAGGACGAGGAGCCACCCCCTGCTCAAGCCTTGGGTCAGGCCGCGCAGCCGCCGCCGGAGCCCCCGGAGGCGGCAGCCATGGAGGCCGCGGCCGAGCCAGATGCTTCCGAGAAGCCGGCGGAGGCCACGGCCGGGTCAGGCGGGGTAAATGGTGGCGAAGAGCAGGGCCTCGGCAAGAGGGAGGAAGACGAACCCGAGGAGCGGAGCGGGGACGAGACGCCGGGATCCGAGGTGCCGGGTGACAAGGCCGCCGAGGAACAGG___GAGATGACCAGGATAGTGAAAAGTCAAAACCAGCAGGCTCAGATGGTGAGCGGCGGGGGGTAAAGAGACAGCGGGATGAGAAGGATGAACATGGCCGAGCTTACTATGAATTCCGAGAGGAGGCTTACCACAGCCG___CTCAAAGTCTCCACTGCCTCCTGAAGAAGAGGCAAAAGATGAGGAGGAGGATCAAACTCTTGTGAACCTGGACACGT___ATACCTCGGATCTGCATTTTCAAGTGAGCAAAGACCGCTATGGAGGGCAGCCACTTTTCTCAGAGAAGTTCCCCACCCTTTGGTCTGGGGCAAGGAGTACTTACGGAGTGACAAAGGGAAAAGTCTGCTTTGAGGCAAAG___GTAACCCAGAATCTCCCAATGAAAGAAGGCTGCACAGAGGTCTCTCTCCTTCGAGTTGGGTGGTCTGTTGATTTTTCCCGTCCACAGCTTG___GTGAAGATGAATTCTCTTACGGTTTCGATGGACGAGGACTCAAGGCAGAAAATGGACAATTTGAGGAATTTGGCCAGACTTTTGGGGAGAATGATGTTATTGGCTGCTTTGCT___AATTTTGAGACTGAAGAAGTAGAACTTTCCTTCTCCAAGAATGGAGAAGACCTAGGTGTGGCATTCTGGATCAGCAAGGATTCCCTGGCAGACCGGGCCCTTCTACCCCATGTCCTCTGCAAAAATTGTGTTGTAGAATTAAACTTCGGTCAGAAGGAGGAGCCCTTCTTCCCACCACCAGAAGAGTTTGTGTTCATTCATGCTGTGCCTGTTGAGGAGCGTGTACGCACTGCAGTCCCTCCCAAGACCATAGAGGAATGTGAG___GTGATTCTGATGGTGGGACTACCCGGATCTGGAAAGACCCAGTGGGCACTGAAATATGCAAAAGAAAACCCTGAGAAAAGATACAATGTCCTGGGAGCTGAGACTGTGCTCAATCAAATGAGG___ATGAAGGGTCTCGAGGAGCCAGAGATGGACCCCAAAAGCCGAGACCTTTTAGTTCAGCAAGCCTCCCAGTGCCTTAGTAAGCTGGTCCAGATTGCTTCCCGGACAAAGAGGAACTTTATTCTTGATCAG___TGTAATGTGTACAATTCTGGCCAACGGCGGAAGCTATTGCTGTTCAAGACCTTCTCTCGGAAAGTGGTGGTGGTTGTCCCTAATGAGGAAGATTGGAAGAAGAGGCTGGAGTTGAGGAAGGAAGTAGAGGGAGATGATGTGCCTGAATCTATAATGCTGGAGATGAAAG___CCAACTTCTCTTTGCCTGAAAAATGCGACTATATGGATGAGGTGACATATGGGGAGCTGGAGAAGGAGGAAGCTCAGCCCATTGTCACTAAGTACAAGGAGGAGGCAAGGAAGCTTCTGCCCCCCTCCGAGAAGCGGACAAATCGCCGAAACAACCGAAACAAGCGTAACCGGCAGAACCGAAGCCGGGGCCAAGGCTATG___TGGGCGGGCAGCGCCGAGGCTACGACAACCGGGCCTACGGGCAGCAGTACTGGGGGCAGCCTGGAAACAGAGGG___GGTTACCGTAATTTCTATGATCGATACAGGGGAGACTATGATCGATTTTACGGGCGAGATTATGAGTACAACAGATACAGAGACTATTACAGACAATACAATCGGGAT___GGACCCTCCATTTTCCATATCCAGGAAAATGTGATGCGCCACAGGTATCAGCGTCTGGATCGCCACTTCACGTTTTAGCCACAAGTGACTCAGTGGAAGATCCAGAGTCAACAGAGGCTCGTCAGGAAGATGTCTACAGAAAAGGTAGACCAAAAGGAGGAAGCTGGGGAAAAAGAGGTGTGCGGAGACCAGATCAAAGGACCGGACAAAGAGGAG___GAACCACCAGCTGCTGCATCCCATGGCCAGGGGTGGCGTCCAGGTGGCAGAGCAGCTAGGAACGCAAGGCCTGAACCTGGGGCCAGACACCCTGCTCTCCCGGCCATGGTCAACGACCCTCCAGTACCTGCCTTACTGTGGGCCCAGGAGGTGGGCCAAGTCTTGGCAGGCCGTGCCCGCAGGCTGCTGCTGCAGTTTGGGGTGCTCTTCTGCACCATCCTCCTTTTGCTCTGGGTGTCTGTCTTCCTCTATGGCTCCTTCTACTATTCCTATATGCCGACAGTCAGCCACCTCAGCCCTGTGCATTTCTACTACAG___GACCGACTGTGATTCCTCCACCACCTCACTCTGCTCCTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTGGACGTGATCGG___GTGCTGATGTATGGACAGCCGTATCGTGTTACCTTAGAGCTTGAGCTGCCAGAGTCCCCTGTGAATCAAGATTTGGGCATGTTCTTGGTCACCATTTCCTGCTACACCAGAGGTGGCCGAATCATCTCCACTTCTTCGCGTTCG___GTGATGCTGCATTACCGCTCAGACCTGCTCCAGATGCTGGACACACTGGTCTTCTCTAGCCTCCTGCTATTTGGCTTTGCAGAGCAGAAGCAGCTGCTGGAGGTGGAACTCTACGCAGACTATAGAGAGAACTCG___TACGTGCCGACCACTGGAGCGATCATTGAGATCCACAGCAAGCGCAT)CCAGCTGTATGGAGCCTACCTCCGCATCCACGCGCACTTCACTGGGCTCAGGTGAGGGGCCAACTGGAGTGAACCTTGGGCAACTCTTCACGGGGGCTAACCT|GGGAAGTTATGGCCTAGAAGGGGTGAGGACCTTCTGGTAGAGCCTGGAAAAAGCACAAGGAAGGGTCTCCCTAGCAGCTGGCCTGGGGGACCAGGATGAATCATCCCAGTGACAAATCCATAACAGAGTTTTCCTGCACCCCCCACCACAGTGGCATGAGACTGAGG . 01BR032 ENSG00000286619.1 ENSG00000230426.4 +/+ +/+ chr1:205813585 chr1:187443628 exon/splice-site exon/splice-site duplication 0 5 0 4 13 medium . . . . . ENSG00000286619.1 ENSG00000230426.4 ENST00000664013.1 ENST00000644419.1 downstream upstream . ^(GGGGAAACGCAGTAGGAGGAGTGACGGGAACCGGGAGCCGGCTCCATGCGCCTGGAGCGCGCGGGTCCCAGCGCCCATCGGCCCGGGGTCCGAGGGGCCCGCTGCCCGGGCTCGCTGCGTGGTGCTACCGCCCCCGGGCCCGCTGCGCCGCGTCGGAGCCCCAGCAGACTTTGAGAGGCGTGTGCGACAGTGCGC)GTCCTCTCCTGCCTCTGGATGTTTCCTTGGAGCCTCTGGCCTTCGGGAAGACCG|TGCTGCTTGTTGCTGACGTTTCTGCCCAAACATCATGAAATGTGGAGAAGAAAGAACACTCAGATGTGCCCTGGAGACTTTCCTTTTATTTTTAAACAG___GTGCCTGC(AATCTGTCTGGAATTCAGACTATTACCCTTCTGGATTCACTAAAACTATACTCTTAATCTGTACTGGGAAGTTCTATACTGTTGCTTTAATCCTTGGTGCTGTTTATTTCAACCAAGATACACCTTGAAGACAATCTGCCTGCAACACTCATAATCCCTGAATGGATAGCACCCAATAAAAGAGAGAACATCATTGCCAATTTTTTCTTCTATCCAAGTCCTCCTCTGTCTTTATACCTTATTTGACCTGAATATCTTATCTTTCCGTGTTAAATGCTCTTCTCTCTTGACCTCTAGATCACTGTACTCTCTGGGGTCTGCCTCTGTTTCCCTAATATTTTCCGCTTTAAATTGTCCACATCTGCTCATGCTTCAATTGATGCCCTCTTTTTAAAAATTCTGTCCTTAGCCATCATTTCTCTCTAAGTTCTACTTAATAATAACCTTAGACATTTTTGTGATTTTATCTTTTATTTCTATGCATATTTTTTTACCAAATGCATACTTCTAGATGTGATCCCCCTCATATTTTTCAGAACATATATAGTTCATTGACATTATTTTCAAAGATACATCAACAGCACCCCAAATTAAACATGTACAAAAATATTTGTCTTCTCCACAAATATGTTCTCATTTGAATATTTACTGCCATTGCTGTTGGAGGATACCTCTAAAGAACCCTGGAAGAAAATATCAGTGTTAGTCACAATTTCTTATATTTTTCATCTCTGTAGTCAAGAAGTAAATCACCATATCATAGAGAATTGTGAAGGATCTGAGATTTTATCATCTTACAAGCTAACAGGTTAGCTGGCTACAATTTCACAGATTCTGCAGAAGACACAGGACTCCAGGATCAGACACAAAGAACTTTGCTACTCATGGCACAGCAGGTAGCATGAGCTTCATGTTCACACCAGTTTCCTTTGACTCCTCAGTCACATTGGAGTGGTGCAGAGAAAACTCAGGTGGATGCTGGACACACAGTGAGTTTGTTTCACAGTCAAAGAATTCTGATCTTTGGAAACCCAAATCTTTTATAAGGTATATGCAACCAAAAGCACCAAGTCTTTGCCCTGACGGGAGACACCGTCTCTATCTGTAAGGAGATAGAAGAGGACAAAGGGAATAAGTATCTCTGTTCTAAAACATGTAGGAATACAAGAAACATGTAAAGAATATTCTCCCTATACTTATCGTACCTGCTGTATCTTCTGTTCCTCATTTCTAAATAGCTGTGTGAAACTGGACAAATTACTTACCTTCATTGTCCCACAATTTTTTATGTGTTAATGGGAATAATAATAGTACCTAAAACACAGAGCTATTATGATTTTTCAAAGAGTTAATATGTCTAAAGTTTCTGTGGTAAAGGCTGGCACATTATTAAATGCTATTTAAGTCATTATTAAATAACTGAATAAGTACTTATTACTATTATCATCATCATATTTACTGTTCCTTTTCCATTTTGTTTGCCACTGGCACTTAGCTTCTCCCTTGTCTACTGCAGTATAGTCTTACTGTGATTCTGCACCCAGACTCTCACCTCCCCCATTTACTCTTTGTGCAGTTTCCAAAGCTTATTTCCTAAAATAAGTATCAGTGATGTCCACTTGATTCTTCCAGAAATTTTAGATGATTCCAGGTTGCAGACAGAAACTGGCCTGCAGTATGGAATTCAGGATCCTTCTCAACATGACTTTTTGGTAGTCTCTTTCCCCTTTAGACTTCCGTAGTTTAGACTTTCTGTATTTTATGAAGAGATTAGGCACATCTAGGCATCCACAAATTTGATCCTGCTGTTCCCTCAGTCAGAAACCCTTTTATCTTTACCTGTGAAAATTCTTGTAATGTTACTGATGTCAGTTCATGCTATTGCTTCCCCAAACTTCTTGCAAGCACACACTCTGCCTGGCTTATCTTTCAATACTCTCTTGGTTGTAAAAATCATTTTTAGCAACACAAGTATCATATTCATCATCCATCCACTTTCCTTATATTCTTCCTCTTTAACTTTCTACCCATCTAGTTCCTTTGTCTTTGCTTGTCAACATATCCTGGTCATTCTCTTCATTCATATGAACTGACTTAGCAGGCTCACTTTCCTGCAGCTTTAGGTTCTGCATAGATGGCTTCCTTGTGGACATCTAATTTGGGCTGATCCAGGATGAACACTGCCCTATACTGCTTCCCCTCTAATACTGCTGAGTTCTGTCTTTGAGGTTGAGGCCTTACAAGTCCAGAAACAAATCATCAATGCCTCATAGTCCTACCCTTCACCGTGTAGGAGGCTTATCGTCTTGATAATCAAACAAAAAGCCCAGCATCAAAAAGTCACCTGTGGTCAAAGCTGCAAATACTAAGGAAATGTTTTGGTGAGCATGAATAAAAAAAGGCATATTACTTCCTCCATTTAGCCTGTGCCAATTAAGACTGTGTAGGAGGAGATTTATTGCAATTAAATAATTTAAAATATTATGTATAATTTCAGTTAATTGAGCAAAAATGTAACAGCATTCAAGAGAAAAGAGCAAAGGAAAAACCAATGTAAAATTTAAAAGTATATACAGTCTATATATTGATCTGGGTTTATAAAGGGATTTAAATTGCAGTTCTAAATTTATTTAGTTTTATATTTCAATTGCACATCTGTTTCTCGTTTTCATGGAACATGTTTCAATCTCAGAGTGAAAGATTTCCTGAAAATCATAAGATTTATGTTTACTGTGTTCCTTATAAAACCAAACTCATGACAAGTGATGGTCAATAAGTGGTCTTTGTTGCATTAAATAAAAAGAATCTGTGAACTTTG)$ . 01BR032 ENSG00000286619.1 ENSG00000230426.4 +/+ +/+ chr1:205813585 chr1:187417911 exon/splice-site exon/splice-site duplication 0 2 0 4 4 medium . . . . . ENSG00000286619.1 ENSG00000230426.4 ENST00000664013.1 ENST00000643891.1 downstream upstream . ^(GGGGAAACGCAGTAGGAGGAGTGACGGGAACCGGGAGCCGGCTCCATGCGCCTGGAGCGCGCGGGTCCCAGCGCCCATCGGCCCGGGGTCCGAGGGGCCCGCTGCCCGGGCTCGCTGCGTGGTGCTACCGCCCCCGGGCCCGCTGCGCCGCGTCGGAGCCCCAGCAGACTTTGAGAGGCGTGTGCGACAGTGCGC)GTCCTCTCCTGCCTCTGGATGTTTCCTTGGAGCCTCTGGCCTTCGGGAAGACCG|GATAATTCTGGCAGCTATTGAAAACAGACTGAAGAGAAGAAAGAAGATTTGGAGGAATATGTATCCAAGATTGATGATGGTGGCTCAGATCAG___TGCTGCTTGTTGCTGACGTTTCTGC(CCAAACATCATGAAATGTGGAGAAGAAAGAACACTCAGATGTGCCCTGGAGACTTTCCTTTTATTTTTAAACAG___AAACCCTGGAGTTCTGGTATCCAACCTAAATCACAGATGACCTTGAGGATAGTGAAGCAGAAAG___TTCTGGACCTGTGCCAGCCACATAGAAACTGCTTAATAATTATTTGTTGAAGAATGTTCTAAATGAATAATCCGCAGCAAAGCCCTGAGAA___AAGCAGAGCCCCTGGAAAACTCACATATGTGTCAACAATAGTCCTTGATGCCCCTGTAACAAAACTTGAGCAAGGCCTGGTGATGAAGAGATACAAGATTGTCACCCAAGGATTTGATTATACCTCTGTTGAAAGTTAATGCACACTCAACCGAATATGGCAATTGGTACTCTCAATTCTATATTCTCAACAATTACAGTGAAGATACAAGTAGAATACAATCACTGCCACATTTTTTGAAATTCTGTGTAAACTGTAATATTCTGTCAACATTAATGACATTTGAAGTGTCCTGTCAAAACAATTGCAGCTACTTTATGTATAAAACATATTAAATAGGCTCATCCAACTTGCATTCTTTATTAAGCTTATTTTCATATTTTTTCCTATGGATGAACTTAAAAATAATTTTGTTTCTTAATTAAGATTC)$ . 01BR032 ENSG00000143324.14 ENSG00000117322.18 +/+ +/+ chr1:180787854 chr1:207452997 CDS/splice-site 5'UTR deletion 0 5 0 84 22 medium out-of-frame . SPX_domain(100%)|Sushi_repeat_(SCR_repeat)(100%) . . ENSG00000143324.14 ENSG00000117322.18 ENST00000367590.9 ENST00000367058.7 downstream upstream . ^(ATGGAGAGGAGGAGGAAGATGGCGGGCGGGCTGCTCTGAAGAGACCTCGGCGGCGGCGGAGGAGGAGAGAAGCGCAGCGCCGCGCCGCGCCGGGGCCCATGTGGGGAGGAGTCGGAGTCGCTGTTGCCGCCGCCGCCTGTAGCTGCTGGACCCGAGTGGGAGTGAGGGGGAAACGGCAGGATGAAGTTCGCCGAGCACCTCTCCGCGCACATCACTCCCGAGTGGAGGAAGCAATACATCCAGTATGAG___GCTTTCAAGGATATGCTGTATTCAGCTCAGGACCAGGCACCTTCTGTGGAAG___TTACAGATGAGGACA)CAGTAAAGAGGTATTTTGCCAAGTTTGAAGAGAAGTTTTTCCAAACCTGTGAAAAAGAACTTGCCAAAATCAACACATTTTATTCAG|AGACGCTAGCTGGCATGTCACGAGGACACTCAACACACAAGCAGCGAGCCCTATGGCAAAATCCACGTGGTGAAGAATGAAGCTTCCAGCCAAAGGCTG___GGATTTCTTGTGGCTCTCCTCCGCCTATCCTAAATGGCCGGATTAGTTATTATTCTACCCCCATTGCTGTTGGTACCGTGATAAGGTACAGTTGTTCAGGTACCTTCCGCCTCATTGGAGAAAAAAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCT(CCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTG___TTTTCCCTCTCGAGTGTCCAGCACTTCCTATGATCCACAATGGACATCACACAAGTGAGAATGTTGGCTCCATTGCTCCAGGATTGTCTGTGACTTACAGCTGTGAATCTGGTTACTTGCTTGTTGGAGAAAAGATCATTAACTGTTTGTCTTCGGGAAAATGGAGTGCTGTCCCCCCCACATGTGAAG___AGGCACGCTGTAAATCTCTAGGACGATTTCCCAATGGGAAGGTAAAGGAGCCTCCAATTCTCCGGGTTGGTGTAACTGCAAACTTTTTCTGTGATGAAGG___GTATCGACTGCAAGGCCCACCTTCTAGTCGGTGTGTAATTGCTGGACAGGGAGTTGCTTGGACCAAAATGCCAGTATGTGAAG___AAATTTTTTGCCCATCACCTCCCCCTATTCTCAATGGAAGACATATAGGCAACTCACTAGCAAATGTCTCATATGGAAGCATAGTCACTTACACTTGTGACCCGGACCCAGAGGAAGGAGTGAACTTCATCCTTATTGGAGAGAGCACTCTCCGTTGTACAGTTGATAGTCAGAAGACTGGGACCTGGAGTGGCCCTGCCCCACGCTGTGAACTTTCTACTTCTGCGGTTCAGTGTCCACATCCCCAGATCCTAAGAGGCCGAATGGTATCTGGGCAGAAAGATCGATATACCTATAACGACACTGTGATATTTGCTTGCATGTTTGGCTTCACCTTGAAGGGCAGCAAGCAAATCCGATGCAATGCCCAAGGCACATGGGAGCCATCTGCACCAGTCTGTGAAAAGG___AATGCCAGGCCCCTCCTAACATCCTCAATGGGCAAAAGGAAGATAGACACATGGTCCGCTTTGACCCTGGAACATCTATAAAATATAGCTGTAACCCTGGCTATGTGCTGGTGGGAGAAGAATCCATACAGTGTACCTCTGAGGGGGTGTGGACACCCCCTGTACCCCAATGCAAAG___TGGCAGCGTGTGAAGCTACAGGAAGGCAACTCTTGACAAAACCCCAGCACCAATTTGTTAGACCAGATGTCAACTCTTCTTGTGGTGAAGG___GTACAAGTTAAGTGGGAGTGTTTATCAGGAGTGTCAAGGCACAATTCCTTGGTTTATGGAGATTCGTCTTTGTAAAG___AAATCACCTGCCCACCACCCCCTGTTATCTACAATGGGGCACACACCGGGAGTTCCTTAGAAGATTTTCCATATGGAACCACGGTCACTTACACATGTAACCCTGGGCCAGAAAGAGGAGTGGAATTCAGCCTCATTGGAGAGAGCACCATCCGTTGTACAAGCAATGATCAAGAAAGAGGCACCTGGAGTGGCCCTGCTCCCCTGTGTAAACTTTCCCTCCTTGCTGTCCAGTGCTCACATGTCCATATTGCAAATGGATACAAGATATCTGGCAAGGAAGCCCCATATTTCTACAATGACACTGTGACATTCAAGTGTTATAGTGGATTTACTTTGAAGGGCAGTAGTCAGATTCGTTGCAAAGCTGATAACACCTGGGATCCTGAAATACCAGTTTGTGAAAAAG___AAACATGCCAGCATGTGAGACAGAGTCTTCAAGAACTTCCAGCTGGTTCACGTGTGGAGCTAGTTAATACGTCCTGCCAAGATGG___GTACCAGTTGACTGGACATGCTTATCAGATGTGTCAAGATGCTGAAAATGGAATTTGGTTCAAAAAGATTCCACTTTGTAAAG___TTATTCACTGTCACCCTCCACCAGTGATTGTCAATGGGAAGCACACAGGCATGATGGCAGAAAACTTTCTATATGGAAATGAAGTCTCTTATGAATGTGACCAAGGATTCTATCTCCTGGGAGAGAAAAAATTGCAGTGCAGAAGTGATTCTAAAGGACATGGATCTTGGAGCGGGCCTTCCCCACAGTGCTTACGATCTCCTCCTGTGACTCGCTGCCCTAATCCAGAAGTCAAACATGGGTACAAGCTCAATAAAACACATTCTGCATATTCCCACAATGACATAGTGTATGTTGACTGCAATCCTGGCTTCATCATGAATGGTAGTCGCGTGATTAGGTGTCATACTGATAACACATGGGTGCCAGGTGTGCCAACTTGTATCAAAAAAG___CCTTCATAGGGTGTCCACCTCCGCCTAAGACCCCTAACGGGAACCATACTGGTGGAAACATAGCTCGATTTTCTCCTGGAATGTCAATCCTGTACAGCTGTGACCAAGGCTACCTGCTGGTGGGAGAGGCACTCCTTCTTTGCACACATGAGGGAACCTGGAGCCAACCTGCCCCTCATTGTAAAG___AGGTAAACTGTAGCTCACCAGCAGATATGGATGGAATCCAGAAAGGGCTGGAACCAAGGAAAATGTATCAGTATGGAGCTGTTGTAACTCTGGAGTGTGAAGATGGGTATATGCTGGAAGGCAGTCCCCAGAGCCAGTGCCAATCGGATCACCAATGGAACCCTCCCCTGGCGGTTTGCAGATCCC___GTTCACTTGCTCCTGTCCTTTGTG___GTATTGCTGCAGGTTTGATACTTCTTACCTTCTTGATTGTCATTACCTTATACGTGATATCAAAACACAGAGCACG___CAATTATTATACAGATACAAGCCAGAAAGAAGCTTTTCATTTAGAAGCACGAGAAGTATATTCTGTTGATCCATACAACCCAGCCAGCTGATCAGAAGACAAACTGGTG___TGTGCCTCATTGCTTGGAATTCAGCGGAATATTGATTAGAAAGAAACTGCTCTAATATCAGCAAGTCTCTTTATATGGCCTCAAGATCAATGAAATGATGTCATAAGCGATCACTTCCTATATGCACTTATTCTCAAGAAGAACATCTTTATGGTAAAGATGGGAGCCCAGTTTCACTGCCATATACTCTTCAAGGACTTTCTGAAGCCTCACTTATGAGATGCCTGAAGCCAGGCCATGGCTATAAACAATTACATGGCTCTAAAAAGTTTTGCCCTTTTTAAGGAAGGCACTAAAAAGAGCTGTCCTGGTATCTAGACCCATCTTCTTTTTGAAATCAGCATACTCAATGTTACTATCTGCTTTTGGTTATAATGTGTTTTTAATTATCTAAAGTATGAAGCATTTTCTGGGGTTATGATGGCTTTACCTTTATTAGGAAGTATGGTTTTATTTTGATAGTAGCTTCCTCCTCTGGTGGTGTTAATCATTTCATTTTTACCCTTACTTGGTTTGAGTTTCTCTCACATTACTGTATATACTTTGCCTTTCCATAATCACTCAGTGATTGCAATTTGCACAAGTTTTTTTAAATTATGGGAATCAAGATTTAATCCTAGAGATTTGGTGTACAATTCAGGCTTTGGATGTTTCTTTAGCAGTTTTGTGATAAGTTCTAGTTGCTTGTAAAATTTCACTTAATAATGTGTACATTAGTCATTCAATAAATTGTAATTGTAAAGAAAACATACAA)$ MKFAEHLSAHITPEWRKQYIQYEAFKDMLYSAQDQAPSVEVTDEDTVKRYFAKFEEKFFQTCEKELAKINTFYS|etlagmsrghsthkqralwqnprgee* 01BR032 ENSG00000287851.1(766),ENSG00000175482.9(32575) ENSG00000165923.16 ./+ -/- chr11:67318197 chr11:47680073 intergenic CDS/splice-site inversion 0 3 0 9 17 medium . . . . . . ENSG00000165923.16 . ENST00000525123.6 downstream downstream . GCCCCGCTTGCCCGCGCCAGCGTCTTGTCACCCCGAGCCGAGGGCCTGCGCGCGGCCGACAG|GTAATAAAAGAGACACCCACTTTACCATCGAAGATCTGAAGTCCTTAGGTTATCATGTCTGTGACACCCTTCTGGACTTTTGTGATCCTGACCAAATGAAG___CACCAGTGGCTCTGAC(AGTTCTCTCTCAGATGGTCTTCCTGTTCACCTAGCAAACATAGCAGATGAG___CTGACTCAGAAAAAGAAGATGTTTAAGAAGAAAAAAAAGAAGTCACTTCAGACTAGGAAACAGCGAAATGAGCAGTATCAGAAAAAAAATTTGATGCAGAAGTTAAAGTTAACAGAAGATACCTCA___GAAAAGGCAGGATTTGCTTCTACTCTGCAAAAGCAGCCAACCTTTTTCAAAAACTCAGAGAATTCCAGTTTTTTACCAATGAAAAATGAAAACCCAAGGTTAAATGAG___ACAAATTTAAATAGAAGAGACAAAGACACCCCCCTGGACCCATCAATGGCCACCCTGATTCTGCCTAAGAATAAAGGGAGAATGCAG___AATAAGAAGCCAGGCTTTACAGTATCATGCTCTCCAAAGAGAACCATAAACTCCAGCCAAGAGCCAGCTCCAGGTATGAAGCCAAACTGGCCTAGGAGCAGATATCCTGCCACAAAGAGAGGCTGTGCTGCCATGGCGGCATACCCATCCTTGCACATATACACATACCCGTAGGTGAGCCTGGGCTGTGCCACACAAGCACTTCATCGGGGGTTTTGAGATTAGACACATTTTATAATGGGGGAGATGTATGACTGGGAACTGCATTTACTTGTGGTATACTGTGTTGTGCACTCATGCACTGACCTTACACTTTGTACTTACACTGTGGGCATGTGGTCAAGATGCATACCTCATGAATTCAACTATTTTTTCATAAAATGAAATTTTATTATGATGTGTAAAAATGCTTTATCAGAAACTGAAGTGTGTTCTCATGGCACACTTCATGGCAGCACAGATATACCTCATTTTAACCAATAGATATTCTCTCTAAAATTATGTGCAAATCAATTTTTAAAAATCAAAATCTATGTTAAACACATTTTGGCAGTGTGCTATAATAAAAAAAAGTGTTGTGTCAAAGCTTTCTAGTGACGGTCAGTCCTACTGCTGTATGTCAGGTTTGCTCACAATGAGGTATTCCCACATAGAAATAACAATGCATGTATTACCCAGAATTTAATGTTGCGTACCTTATGTTCAATGAGGTTTTGTAATTTTTTTAGGCTGATGATTAAAATTCTTTCTCTCTAA)$ . 01BR033 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 18 0 28 74 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),mismappers(4) GCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC??????AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCC(TGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 01BR033 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 8 9 0 60 32 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGA)ACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 01BR033 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 5 6 0 89 36 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACT)CAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR033 ENSG00000114861.22 ENSG00000241593.5(20057),ENSG00000287053.1(42337) -/- ./+ chr3:71493426 chr3:81317402 5'UTR/splice-site intergenic inversion 5 2 0 15 4 high . . . . . ENSG00000114861.22 . ENST00000649528.2 . upstream upstream . TGTCCCAGAAGCTTTTGTTGACAATTCCAGTTTCCGAACAAAACATTTCGGCAATGGTGAGGGCTTCGATCCCTTCTCTGATTTGCTGTCAGCCATGAACGGATGGATGTGATGCCTGCTAGCCAAAAGG|AGAGGGAGTTGGGTATACGACTATTCCATCACTCCAGCTTGAAATTAGCCACCCGAGGGCATCACCTTTGCCATCTTGAAGTTATTAAAAGTATCAG___ATGCTTGTCAGAACTATTCTGAAC...GCACGGTGTAAAATAGTGATGATCGGAGATGGATTTAGCAGTACAATGGCACTCTCCAAGTCAAGATCCCTTTCTCACAAAATAAACAGCCATGTTCGGAAGAAACAGAGTGAATCATGAAACTCAGATATTACATTAA___TTTCATCTTTG . 01BR033 ENSG00000285708.1 ENSG00000241593.5(20057),ENSG00000287053.1(42337) -/- ./+ chr3:71493426 chr3:81317402 5'UTR/splice-site intergenic inversion 5 2 0 15 4 high . . . . . ENSG00000285708.1 . ENST00000647725.1 . upstream upstream . ^(CAGGTCGAGCAGCAG___GGGCTGTGGGGTCACCTTCTCTTCCTCTCTTCTGCCACCCCAAGTCGTCTGTGTTGCGTGTCATGCAGTGGGACAGCACGTTGGTCCGGACCTCAAGCTACCCACGTTCTAGTCCCGCCTCTGTCATTTCCTAGAGCTGTGGCCTCGG___ATCCCTCCCTGGTGCCACAGCAGCTGAGTGCGCATCAAATCTGAAGAAAATCTACACAGTACAGACAGTACAG___ATATTTTGGAGTGTATACAATAATATCCCTCCTGTGACTAGCCTGCCTTTGAGATGTAGTTATCATTTAATGAGAGGAGAGAGGCGACCACTTTG___TCCACAGTTTGGAAAGAGTTGCTGTTAGCAACCATCGGGGAACAGTTCACAGACTGTGCCGCAGCAG___ATGATGAAGTAATAGGAGTTAGTGTCAGTGTTCGGGACCGAGAAGACGTCGTCCAAGTCTGGAATGTAAATGCCTCTTTAGTGGGTGAAGCGACTGTTTTAGAAAAGATCTATGAACTTCTGCCCCACATAACTTTTAAAGCAGTATTTTATAAAC___)TGTCCCAGAAGCTTTTGTTGACAATTCCAGTTTCCGAACAAAACATTTCGGCAATGGTGAGGGCTTCGATCCCTTCTCTGATTTGCTGTCAGCCATGAACGGATGGATGTGATGCCTGCTAGCCAAAAGG|AGAGGGAGTTGGGTATACGACTATTCCATCACTCCAGCTTGAAATTAGCCACCCGAGGGCATCACCTTTGCCATCTTGAAGTTATTAAAAGTATCAG___ATGCTTGTCAGAACTATTCTGAAC...GCACGGTGTAAAATAGTGATGATCGGAGATGGATTTAGCAGTACAATGGCACTCTCCAAGTCAAGATCCCTTTCTCACAAAATAAACAGCCATGTTCGGAAGAAACAGAGTGAATCATGAAACTCAGATATTACATTAA___TTTCATCTTTG . 01BR033 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 2 2 0 150 8 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCA)GAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG(___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 01BR033 ENSG00000079805.17 ENSG00000257434.1 +/+ +/- chr19:10795498 chr12:75033246 intron intron translocation/5'-5' 7 4 0 18 6 medium out-of-frame . Dynamin_central_region(100%),Dynamin_family(100%)| . . ENSG00000079805.17 ENSG00000257434.1 ENST00000389253.9 . downstream downstream . ^(GAGAACCGGATGAGGCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACGCCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCG___GGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAG___AACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACG___TGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAG___GCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAG___GCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACGCTGAATCAG___CAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCA___GATGGTCCAGCAGTTTGGGGTGGATTTTGAGAAGAGGATCGAGGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGC)GCCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAG___ATGGAGTTTGACGAGAAGGACTTACGACGGGAGATCAGCTATGCCATTAAGAACATCCATGGAGTCAGGCAAGTTCCACGAGGAGAGTCACCACTGTTCCTTCCTCTCCGTGGTGCGACCCCCCAGC|CTGGGCAATGGAGTGAGAAAGACTTTGGGTCTGTAAACTGGATCAACTCTGGGAATTGGTTGATAAGCAGTGCCTCTGTCTTAATGTTTCAG___TATCTGCAGAGCCTAATGAAATGATTGGAATATAATAGACCCAGTTTTTATCATCATCTGTGGACTCCTTGCTGCCCTGACTCACCCACTGGACTGAACCTTCCCAGGCACTAACCAGTGTCGTTAATTCACTTCCATTTGCC MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKKFTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMDLANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMADRMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQMVQQFGVDFEKRIEGSGDQVDTLELSGGARINRIFHERFPFELVKMEFDEKDLRREISYAIKNIHGVrqvprgesplflplrgatpq|pgqwsekdfgsvnwinsgnwlissasvlmfqylqslmk* 01BR033 ENSG00000099337.5 ENSG00000167645.17 +/+ -/+ chr19:38320272 chr19:38312972 CDS/splice-site intron duplication/5'-5' 1 2 0 51 5 medium out-of-frame . Ion_channel(100%)| . . ENSG00000099337.5 ENSG00000167645.17 ENST00000263372.5 . downstream upstream duplicates(1) ^(GCCGCGCCTGTAGCACTCCCGGAACTGGAACTAGGTGCCAGACGGTCCGGAGGCGGGGGCCACGTCAGCGGGGCCACCCAGGGCTCGCGGGGTCCCGGTGGGTGCCATGCGGAGGGGCGCGCTTCTGGCGGGCGCCTTGGCCGCGTACGCCGCGTACCTGGTGCTGGGCGCGCTGTTGGTGGCGCGGCTGGAGGGGCCGCACGAAGCCAGGCTCCGAGCCGAGCTGGAGACGCTGCGGGCGCAGCTGCTTCAGCGCAGCCCGTGTGTGGCTGCCCCCGCCCT)GGACGCCTTCGTGGAGCGAGTGCTGGCGGCCGGACGGCTGGGGCGGGTCGTGCTTGCTAACGCTTCGGGGTCCGCCAACGCCTCGGACCCCGCCTGGGACTTCGCCTCTGCTCTCTTCTTCGCCAGCACGCTGATCACCACCGTGG|ACAGATTCTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGTGTAGCTgGGATTATAGGCGCACGCCACCAAGCCCAG___TGACCTCGCCAAC MRRGALLAGALAAYAAYLVLGALLVARLEGPHEARLRAELETLRAQLLQRSPCVAAPALDAFVERVLAAGRLGRVVLANASGSANASDPAWDFASALFFASTLITTV|drfsllsprlecngaisahhnlhlpgsssspasascvagiigarhqaq* 01BR040 ENSG00000168394.11 ENSG00000242574.9 -/- -/- chr6:32850320 chr6:32934987 CDS/splice-site CDS/splice-site duplication 35 40 0 2073 1124 high out-of-frame . ABC_transporter_transmembrane_region(100%)| . . ENSG00000168394.11 ENSG00000242574.9 ENST00000354258.4 ENST00000418107.3 upstream downstream duplicates(18) ^(GAGAAGGGTGTGCGTGATGGAGAAAATTGGGCACCAGGGCTGCTCCCGAGATTCTCAGATCTGATTTCCACGCTTGCTACCAAAATAGTCTGGGCAGGCCACTTTTGGAAGTAGGCGTTATCTAGTGAGCAGGCGGCCGCTTTCGATTTCGCTTTCCCCTAAATGGCTGAGCTTCTCGCCAGCGCAGGATCAGCCTGTTCCTGGGACTTTCCGAGAGCCCCGCCCTCGTTCCCTCCCCCAGCCGCCAGTAGGGGAGGACTCGGCGGTACCCGGAGCTTCAGGCCCCACCGGGGCGCGGAGAGTCCCAGGCCCGGCCGGGACCGGGACGGCGTCCGAGTGCCAATGGCTAGCTCTAGGTGTCCCGCTCCCCGCGGGTGCCGCTGCCTCCCCGGAGCTTCTCTCGCATGGCTGGGGACAGTACTGCTACTTCTCGCCGACTGGGTGCTGCTCCGGACCGCGCTGCCCCGCATATTCTCCCTGCTGGTGCCCACCGCGCTGCCACTGCTCCGGGTCTGGGCGGTGGGCCTGAGCCGCTGGGCCGTGCTCTGGCTGGGGGCCTGCGGGGTCCTCAGGGCAACGGTTGGCTCCAAGAGCGAAAACGCAGGTGCCCAGGGCTGGCTGGCTGCTTTGAAGCCATTAGCTGCGGCACTGGGCTTGGCCCTGCCGGGACTTGCCTTGTTCCGAGAGCTGATCTCATGGGGAGCCCCCGGGTCCGCGGATAGCACCAGGCTACTGCACTGGGGAAGTCACCCTACCGCCTTCGTTGTCAGTTATGCAGCGGCACTGCCCGCAGCAGCCCTGTGGCACAAACTCGGGAGCCTCTGGGTGCCCGGCGGTCAGGGCGGCTCTGGAAACCCTGTGCGTCGGCTTCTAGGCTGCCTGGGCTCGGAGACGCGCCGCCTCTCGCTGTTCCTGGTCCTGGTGGTCCTCTCCTCTCTTG___GGGAGATGGCCATTCCATTCTTTACGGGCCGCCTCACTGACTGGATTCTACAAGATGGCTCAGCCGATACCTTCACTCGAAACTTAACTCTCATGTCCATTCTCACCATAGCCAG___TGCAGTGCTGGAGTTCGTGGGTGACGGGATCTATAACAACACCATGGGCCACGTGCACAGCCACTTGCAGGGAGAGGTGTTTGGGGCTGTCCTGCGCCAGGAGACGGAGTTTTTCCAACAGAACCAGACAG___GTAACATCATGTCTCGGGTAACAGAGGACACGTCCACCCTGAGTGATT)CTCTGAGTGAGAATCTGAGCTTATTTCTGTGGTACCTGGTGCGAGGCCTATGTCTCTTGGGGATCATGCTCTGGGGATCAGTGTCCCTCACCATGGTCACCCTGATCACCCTGCCTCTGCTTTTCCTTCTGCCCAAGAAGGTGGGAAAATGGTACCAG___TTGCTGGAAGTGCAGGTGCGGGAATCTCTGGCAAAGTCCAGCCAGGTGGCCATTGAGGCTCTGTCGGCCATGCCTACAGTTCGAAGCTTTGCCAACGAGGAGGGCGAAGCCCAGAAGTTTAGGGAAAAGCTGCAAGAAATAAAGACACTCAACCAGAAGGAGGCTGTGGCCTATGCAGTCAACTCCTGGACCACTAGT|GATGGCACATTTCCTAGAGGCAGAATCCTACAACTTCCACTCCAAGTGAGAAGGAGATTCAAACTCAATGATGCTACCATGCCTCTCCAACATCTTCAACCCCCTGACATTATCTTGGATCCTATGGTTTCTCCATCCAATTCTTTGAATTTCCCAGTCTCCCCTATGTAAAACTTAGCAACTTGGGGGACCTCATTCCTGGGACTATGCTGTAACCAAATTATTGTCCAAGGCTATATTTCTGGGATGAATATAATCTGAGGAAGGGAGTTAAAGACCCTCCTGGGGCTCTCAGTGTGCCATAGAGGAC(AGCAACTGGTGATTGTTTCAGAGAAATAAACTTTGGTGGAAA)$ MAELLASAGSACSWDFPRAPPSFPPPAASRGGLGGTRSFRPHRGAESPRPGRDRDGVRVPMASSRCPAPRGCRCLPGASLAWLGTVLLLLADWVLLRTALPRIFSLLVPTALPLLRVWAVGLSRWAVLWLGACGVLRATVGSKSENAGAQGWLAALKPLAAALGLALPGLALFRELISWGAPGSADSTRLLHWGSHPTAFVVSYAAALPAAALWHKLGSLWVPGGQGGSGNPVRRLLGCLGSETRRLSLFLVLVVLSSLGEMAIPFFTGRLTDWILQDGSADTFTRNLTLMSILTIASAVLEFVGDGIYNNTMGHVHSHLQGEVFGAVLRQETEFFQQNQTGNIMSRVTEDTSTLSDSLSENLSLFLWYLVRGLCLLGIMLWGSVSLTMVTLITLPLLFLLPKKVGKWYQLLEVQVRESLAKSSQVAIEALSAMPTVRSFANEEGEAQKFREKLQEIKTLNQKEAVAYAVNSWTTS|dgtfprgrilqlplqvrrrfklndatmplqhlqppdiildpmvspsnslnfpvspm* 01BR040 ENSG00000116285.13 ENSG00000241621.1 -/- -/- chr1:8026158 chr10:30369425 5'UTR/splice-site exon/splice-site translocation 19 22 0 86 67 high . . . . . ENSG00000116285.13 ENSG00000241621.1 ENST00000377482.10 ENST00000340929.4 upstream downstream duplicates(4),low_entropy(1),mismatches(1) ^(GACGGCGG)TCCGGTGCGAGGCAGAGTGCTAGCGGGAGCGCGAGCCAGCAAGAGGCGCCTGCGCGATGTCCGGGCCCCTGAGCCCGCGGCGCTGAGCCAGCCGGGACGGACATGCGCGGGAGGGCGCCGCGGGGCAGCCGCCGCTCCTCCGGG|ATGTTGGAACAAGTCCAGCTAGAGACAGATGAATATACTCAACATCTAAAAGGAGAGAGGGCCCGGTGGCAGCAGAGGGTATGGAAAATGTCAGAGGAG(___GGGCCCTCTGAGGTGGAACAGCAGCTACAAGCTGAGGCCGAGCACCCGAGGAAGGAGCAGGAGAGTCTGGCAGGACAGCTCCAAGCTCAGGTGCAAAACAATCAAGGCTTGAGTCACCTGAACTGGGAGCAGGAGGAGAGGCTGCTGGAACGGGAGACGCTGCGGGAGCAGGAGAGGCTGCAGGAGCTGGAGGAGAAGCTGCAGGAGTAGGAGAGGCTGGGAGAGCGGGAGGAGAGTCTGCGGGAGCGGGAGGAGAGTCTGCGGGAGCGGGAGGAGAGGCTACGGGAGTGGGAGGAGAGGCTGCGGAGCAGGAGGACAGGCTGCTCGAGCTGGGGCGGAAAGCCAAGCTCTGGGAGGAGCAGGCAGAGACGTGCATGCAGGCCCTGCGGAACCACACCACCATCAACCACGTGCTCTCTCAGAACCATGAGCTCGACTAGCAGCTGGCTGGGCCACAGAGCGGCTTAGAGGAGCTG___GGTCTTCCTGCAGGTGAAGCTGAAGAGCCAAGAGGCTCAGAGTCTGCAGCAGCAGGGACACCAGTCCCTGGGTCACCTGCAGCAGTACGTGGCTGCCTATCAGCAGCTGACCTCTGAGAAGGAGGCGCAGCACAGGCAGTTACTGCTGCAGACCCAGCTCATGGACCAGCTGCAGCAGCAGGAAGCTTGGGGCAAAGTG___CCCCCCACAGGAGATGGAGGAGAACATCTGGACAACGTGGAAGAGGAGGCTCAGCTTGGCCCATGCTGAGCATCCCGGAGGACCTGGAGAGCAGGGAGGTCATGGCGAGC___GTGGCGTTTTTCAACTCCGCTGGAGCCAGTGCCCAGGAGGAGCAGGTATGGCTT___GTGGCCTTGGCCCAGAAGGAGCCAGAGGTAGTGGAACCAGCCCCAGGGACTGGGGATGAGTCTGTGTGTGGGTAGACTCATCAGGCCCTGCAGGGATCCATGGAGAAGTTGCAG___AGTGGCTTTATGGACCTCCTGAAGGAGAAGGTGGACCTGAAGGAGTGGGTGGAGAAACTAGAGCTTCGATCCATCCACCTCTCAGGACAGGCAGACACCATCA___GAAAGTAAATCACAACATACGAGGGCCAGAGGGCAGCGCCAAAGACGCGGCACCAGGAGGAGGAGGACATCATCAGGCTGGCCCAGGACAAAGAGGAGATGAAGATGGGGCATTGCAGCACCTCTGTGGGGGTGGGGGTGGGGTGGGTGTGAGCGTGGGCAGGGGCACTGGCACCAGCGTGGCAGCTGAGCACCCCTCCCTTCAGGTGAAACTGCTGGAGCTGCAGGAGCTGGTGTTGCGGCTTGCAGGCGATCACAACGAGGGGCATGGCAAATTCCTGGCCGCTGCCCAGAACCCTGCTGATGATCCTGCTCCAGGGGCCCCAGCCCCTCAGGAGCTTGGGGCTGCTGACAAGCAGGGTG___CGACAGCCTGGAGCCTGCACCAGGAGAGGCCAGGGAGGGTTGTCCCCATGACAACCCCACTGCACAGCAGCTCATGCAGCTTCTTCCTGTGATGCGGGACCCCCAGGAGTACCCAGGCTTGGGCAGCAGTCCCTGCATGCCATTCTTTTACCAGGCTGCCAAGAACAGGGAGCTAAACATCACCATCATCTAA)$ . 01BR040 ENSG00000253649.5 ENSG00000253641.6(1858),ENSG00000272505.1(2561) -/- ./- chr8:10497712 chr8:10484246 CDS/splice-site intergenic deletion/read-through 15 24 2 83 143 high out-of-frame . Trypsin(100%)| . . ENSG00000253649.5 . ENST00000637190.1 . upstream downstream duplicates(8),low_entropy(1) ^(GGATGTGGCGAGGCAGCCGCGGTGTCAGAAAGAGGAAGGCAGGAGGCTGAGGCCGAGGGCCCTGGAATCTCGCACATTCCAGGGTTCAGAAAGATCACGGTGGGGTCCACCTCTGGAGTCCACAAAAG___AAAACGTACAATGTGGCCACAGGCCTGCTTTTCCAAACTCGTCATGGTTACCATTTCATGAACGGCTTCAAGTCCAGAATG___ATTAGACATGGCCGTGGTAAATGTCACTGTGGTCATGGGAACGAGAACATTCAGCAACATCCACTCGGAGAGAAAGCAAGTGCAGAAG___)GAGGAGGAGAGGACCTGGGACTGGTGTTGGATGGCACAGTGGGTAACGACCAATGGGTATG|AGTAGAATCCTGTTTCCTTCTGAAGCCCTTCCTAATTGATATACTTAGGGCCATCTTCCTTAACACCCCAGACCTGCTGGTTTCGGAGCCATCGACCTCCTCATTTCCACCGCAGAGGGCTGGAGGAGATTCAGAAAATCAGGGCAGGGCCCAGGAGAAG___GTTCTTTCAGAGCATGGCTTCAGCCTGGTTACTTCTGACACCAGCCAGGAGGAACAGACTTCTTCCCCATACAGCAGGTACCACCAGAAGTACCTGAGCAAGATCACCCTCAGCTCCTGCAGCCTCAGGGCACCGGAGTGTCCTGTCCACGGGGCATTTGTTACGGACAAAGATTTGTGTGGCC MAVVNVTVVMGTRTFSNIHSERKQVQKEEERTWDWCWMAQWVTTNGY|e* 01BR040 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 23 14 1 46 45 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(7) TTCAT___...GCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCgTGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAG(GACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR040 ENSG00000143256.5 ENSG00000158864.12 -/- +/+ chr1:161117952 chr1:161213380 CDS/splice-site CDS/splice-site inversion 1 20 0 726 848 high in-frame . |Respiratory-chain_NADH_dehydrogenase__49_Kd_subunit(100%) . . ENSG00000143256.5 ENSG00000158864.12 ENST00000368010.4 ENST00000367993.7 upstream upstream . ^AGGCGGCGAAGATGGCGGAGAACAGCGGTCGCGCCGGCAAGAGCAGCGGGAGCGGCGCGGGGAAGGGGGCGGTGTCCGCAGAGCAG|ACTTCCATGGAGTCACTGATTCATCACTTTAAGTTGTATACTGAGGGCTACCAAGTTCCTCCAGGAGCCACATATACTGCCATTGAGGCTCCCAAG___GGAGAGTTTGGGGTGTACCTGGTGTCTGATGGCAGCAGCCGCCCTTATCGATGCAAGATCAAGGCTCCTGGTTTTGCCCATCTG___GCTGGTTTGGACAAGATGTCTAAGGGACACATGTTGGCAGATGTCGTTGCCATCATAG___GTACCCAAGATATTGTATTTGGAGAAGTAGATCGGTGAGCAGGGGAGCAGCGTTTGATCCCCCCTGCCTATCAGCTTCTTCTGTGGAGC(CTGTTCCTCACTGGAAATTGGCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTCATGTACACTTGGCTGTCAGGCTTTCTGTGCATGTACTAAAAAAGGAGAAATTATAATAAATTAGCCGTCTTGCGGCCCCTAGGCCTAAA)$ MAENSGRAGKSSGSGAGKGAVSAEQ|TSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPYRCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTQDIVFGEVDR* 01BR040 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 4 0 172 43 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAA)TGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR040 ENSG00000196526.10 ENSG00000170801.10 -/- +/- chr4:7778762 chr4:8279644 CDS/splice-site intron duplication/5'-5' 5 8 2 61 30 high out-of-frame . PH_domain(100%)| . . ENSG00000196526.10 ENSG00000170801.10 ENST00000358461.6 . upstream downstream . ^(GGGCGCCCGGCTCCGCTGGGGGCGGGACGGCGGGCGGCGGGCGGGGCCGTGTGCGCCTGCGTGGTGTCTGTCCCGGCCGCAGCCCCACGCCGGCTGCAGCTCCGCGAGCCGAGCCGGATCTCGAGCGGGGTACACGGGCTGAGGCGGCGGCGGCGGCCCCGCCCCGGGGCTCCATTGTTAAGGCGGCTGCGGCTCTGTCGGCTGTTCAGCTGCGCTCCAGTCGGCCCAGGCGCCGCGGCGAGGAGCGAGCGCTGCGAGGTGGCGGCCTGAG___CAATGGAAGAGTTAATAGTTGAACTTCGTCTCTTTCTTGAACTCCTGGACCATGAATATCTAACCTCAACTGTCAGGGAGAAAAAGGCAGTGATAACCAACATTCTGCTAAGAATACAGTCATCCAAAG___GTTTTGATGTGAAGGACCATGCTCAGAAGCAGGAGACCGCTAACAGCCTGCCAGCCCCTCCTCAGATGCCCCTGCCGGAGATCCCTCAGCCCTGGCTG___CCTCCTGACAGTGGGCCTCCACCATTGCCAACATCCTCCCTCCCAGAAGGTTATTATGAGGAAGCTGTGCCGCTGAGCCCCGGAAAAGCTCCGGAATACATCACATCAA___ATTATGATTCCGATGCGATGAGCAGCTCTTATGAGTCGTATGATGAAGAGGAGGAGGATGGGAAGGGGAAGAAAACCCGGCACCAGTGGCCCTCCGAGGAGGCCTCCATGGACCTGGTCAAGGACGCCAAAATCTGCGCCTTCCTGCTGCGGAAGAAGCGGTTCGGCCAGTGGACCAAGTTGCTCTGCGTCATCAAAGACACCAAACTGCTG___TGCTATAAAAGTTCCAAGGACCAGCAGCCTCAGATGGAACTGCCACTCCAAGGCTGTAACATTACGTACATCCCGAAAGACAGCAAAAAGAAGAAGCACGAGCTGAAGATTACTCAGCAGGGCACGGACCCGCTTGTTCTCGCCGTCCAGAGCAAGGAACAGGCCGAGCAGTGGCTGAAG___GTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAG___AAACTGTCTTCAGAGAGACCCAGCTCAGATGGGGAGGGTGTTGTGGAAAATGGAATTACCACATGTAATGGAAAGGAGCAAG___TGAAGAGGAAGAAAAGTTCCAAATCAGAGGCCAAGGGCACTGTGTCGAAAGTCACTGGGAAAAAAATCACCAAGATCATCAGTCTGGGAAAGAAAAAGCCGTCCACAGACGAGCAGACCTCCTCAGCTGAGGAAGATGTTCCCACCTGCG___GCTATCTGAACGTGCTCTCCAACAGCCGCTGGCGAGAGCGCTGGTGCCGAGTGAAAGATAACAAGCTCATTTTCCACAAGGACAGGACCGACCTGAAGACCCATATTGTGTCTATTCCGCTCCGTGGCTGCGAGGTGATCCCGGGTTTGGATTCTAAACATCCTCTGACGTTCCGGCTGCTGCGCAACGGCCAGGAGGTTGCAGTATTGGAG___GCATCTTCTTCTGAAGACATGGGCAGGTGGATTGGGATTTTACTCGCAGAGACGGGATCGTCCACAGACCCGGAGGCTCTGCACTATGACTACATTGATGTGGAGATGTCTGCAAGTGTCATTCAGACAGCCAAACAGACCTTCTG___TTTCATGAACAGGCGTGTTATATCTGCTAACCCATATCTA)GGGGGCACCTCCAACGGCTATGCCCACCCCAGCGGGACGGCACTTCATTATGACGATGTCCCGTGCATCAACGGCTCG___CTCAAGGGTAAAAAGCCCCCCGTGGCGTCTAATGGGGTCACAGGAAAAGGGAAGACTCTGAGCAGTCAGCCAAAGAAAGCGGATCCCGCGGCTGTTGTGAAAAGGACGGGTTCGA|GTGATTAGAAAAGGCTGCCTTCCTGTGTGTCTCCATCCTGGACTCAGACACTCCAACACCCAGGGCCGGAAAGCTCTCTGGACCCCAACGTGTCCACCCCCTGCTTGCCAAAGCCCAGCCCCTGGACCCCCTCAAGCGCCTGGGCTGCTGGGCCCCTGAGCTCTGACGCGGCAGCCTGAAGATCTGCACAGCACTGCGGCCTCCACCGGAAGGACTTTCTCCCCAGTGTGGTC MEELIVELRLFLELLDHEYLTSTVREKKAVITNILLRIQSSKGFDVKDHAQKQETANSLPAPPQMPLPEIPQPWLPPDSGPPPLPTSSLPEGYYEEAVPLSPGKAPEYITSNYDSDAMSSSYESYDEEEEDGKGKKTRHQWPSEEASMDLVKDAKICAFLLRKKRFGQWTKLLCVIKDTKLLCYKSSKDQQPQMELPLQGCNITYIPKDSKKKKHELKITQQGTDPLVLAVQSKEQAEQWLKVIKEAYSGCSGPVDSECPPPPSSPVHKAELEKKLSSERPSSDGEGVVENGITTCNGKEQVKRKKSSKSEAKGTVSKVTGKKITKIISLGKKKPSTDEQTSSAEEDVPTCGYLNVLSNSRWRERWCRVKDNKLIFHKDRTDLKTHIVSIPLRGCEVIPGLDSKHPLTFRLLRNGQEVAVLEASSSEDMGRWIGILLAETGSSTDPEALHYDYIDVEMSASVIQTAKQTFCFMNRRVISANPYLGGTSNGYAHPSGTALHYDDVPCINGSLKGKKPPVASNGVTGKGKTLSSQPKKADPAAVVKRTGS|sd* 01BR040 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 8 5 0 25 19 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(2),inconsistently_clipped(1),mismappers(1) TGTGCTGGCAGTACAATGACAGTTTTCCTTTCCTTTGCTTTCCTCGCTGCCATTCTGACTCACATAGGGTGCAGCAATCAGCGCCGAAGTCCAGAAAACAGTGGGAGAAGATATAACCGGATTCAACATGGGCAATGTGCCTACACTTTC...TTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGAC(ACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 01BR040 ENSG00000073614.13 ENSG00000146700.9 -/- -/- chr12:350621 chr7:76409558 CDS/splice-site 5'UTR translocation 3 6 0 29 18 high out-of-frame . ARID/BRIGHT_DNA_binding_domain(100%),PHD-finger(100%),jmjN_domain(100%)|Scavenger_receptor_cysteine-rich_domain(100%) . . ENSG00000073614.13 ENSG00000146700.9 ENST00000399788.7 ENST00000275560.4 upstream downstream duplicates(5),mismatches(1) ^(GACAGCACGGTAACTTCCGGAAAAGTCCTGAACCTCAGTGGAAAAGCCTTGCAAGAAACAATAACAAACGGGAGGAGGAAGCGATTCTGGGGTTTCTGTGTTGAACGGTTCTTGTCCGCGAAGATGCGCTTCGGCCTCTGTCAGGGGACTTGAACGGGCTTAGTGGGCTTCAGCCAGCTTTTCTCCACCGGTTCCCCACGGGGACCCCCCCCCCCCCCCGGCCGTTGCAATGGCGGGCGTGGGGCCGGGGGGCTACGCGGCGGAGTTCGTGCCACCGCCAGAGTGCCCCGTCTTTGAGCCGAGTTGGGAGGAGTTCACAGATCCGCTCAGCTTTATCGGCCGCATCCGGCCTTTGGCGGAGAAAACCGGCATCTGCAAAATTCGGCCGCCCAAG___GACTGGCAGCCTCCATTTGCCTGTGAAGTAAAAAGCTTTCGTTTCACTCCAAGAGTCCAGCGCCTGAATGAACTTGAG___GCAATGACCAGAGTGAGATTGGATTTCTTGGATCAACTAGCAAAATTTTGGGAACTTCAAGGATCTACTCTGAAGATCCCTGTGGTAGAGAGAAAAATCCTGGATCTGTATGCTTTGAGCAAG___ATTGTTGCCAGCAAAGGAGGTTTTGAAATGGTCACCAAAGAGAAGAAATGGTCTAAAGTGGGTAGTCGCTTGGGATATCTGCCAGGAAAAGGAACTGGGTCTCTTTTGAAGTCACATTATGAAAGAATTCTCTACCCATATGAGCTTTTCCAGTCTGGTGTGAGCCTTATG___GGTGTGCAGATGCCTAATTTAGATCTTAAAGAAAAAGTGGAGCCTGAGGTTCTCAGCACTGATACCCAAACTTCCCCAGAGCCAGGCACAAGGATGAACATTCTGCCGAAGAGAACAAGACGTGTGAAGACTCAG___TCAGAATCTGGAGATGTGAGTAGAAACACGGAACTGAAGAAACTTCAGATTTTTGGGGCTGGGCCCAAGGTTGTGGGCTTGGCAATGGGAACAAAAGATAAAGAAG___ATGAGGTCACCCGAAGACGAAAAGTTACCAACAGGTCAGACGCATTTAACATGCAAATGAGACAACGGAAAGGCACTCTCTCTGTTAACTTT___GTTGATCTCTATGTTTGTATGTTTTGTGGTCGGGGAAACAATGAAGATAAATTGCTTTTGTGTGATGGATGTGATGACAGCTATCATACATTTTGTCTAATTCCTCCACTACCTGATGTGCCCAAAGGAGACTGGAGGTGTCCTAAATGTGTCGCCGAG___GAATGTAGCAAA)CCTCGAGAAGCCTaTGGATTgGAACAAGCTGTACGAGAGTATAgACTTCAGAGCTTTGGAGAGATGGCAGATAATTTTAAGTCTGATTATTTTAATATGCCAGTCCAT___ATGGTTCCCACAGAACTAGTAGAAAAGGAATTTTGGCGGCTGGTAAGCAGCATTGAAGAAGATGTTATTGTGGAATATGGAGCAGATATCTCCTCAAAAGACTTTGGAAGTGGATTTCCGGTGAAGGATGGGCGGAGAAAGATTCTGCCAGAAGAAGAG|CTGTGGAAAGAAAAGAAGAAACGCCTGTGTTGATTTCCATTTGGAAGATCCTTCCTCCTCCTAAACTTCCAGGGGCAGACAAAGTGATTCGATCTTGGATTGACTGTAGAAGAAGGGACAGAAAGAGCCCAGAACATTCCCCCAG___ATGTTCCAACTGTGACTTCTCCCTGGCGCCTTGATGGGAGCATCTGAAACACCCTTCACCATCTAGATGCACAAGGAAGCAGAGATGCTAATTGGTCCCCAGCTGGATGAGAAGCG(CTGGGGGTGGAGGTTGGGAGATGGGAGTGCTGCCCCTCCCTTCCTCCCCCAAGCCCTGTCTTTCCTTCTCCTCCTGCCACTGG___CCAGCGCCCTACAGCCCACTCCACTGCCCTTTCAAG___AGCTGAGGCTGGTGGGGGGCCCCAGCCGCTGCCGGGGCCGCCTGGAAGTCATGCACGGTGGCTCCTGGGGCAGCGTCTGTGATGACGACTGGGACGTGGTGGACGCCAACGTAGTGTGTCGCCAGCTGGGCTGTGGCCTGGCACTGCCCGTGCCACGGCCCCTTGCCTTTGGCCAAGGCCGAGGCCCCATCCTGCTGGACAACGTGGAGTGCCGCGGGCAGGAAGCTGCGCTGAGCGAGTGCGGCAGCCGCGGCTGGGGCGTCCACAATTGCTTTCACTACGAGGATGTGGCTGTCCTGTGTGATG___AATTCTTGCCAACGCAGCCCCCAACAAGGAAGATGTTAACCAGTAGAGCACCTCCTACGACACTGCCGAATGGAAAAA___GTGAGGGCAGCGTACGCCTGGTAGGGGGCGCGAACCTGTGTCAGGGCCGAGTGGAGATCCTGCACAGTGGCCTGTGGGGCACCGTGTGTGACGACGACTGGGGGCTGCCGGATGCCGCTGTGGTCTGTCGTCAGCTGGGCTGCGGGGCGGCCATGGCCGCCACCACCAACGCCTTCTTCGGCTATGGCACCGGACACATCCTGCTGGACAACGTGCACTGCGAAGGCGGCGAGCCCCGCCTGGCAGCCTGCCAGAGCCTGGGCTGGGGTGTGCACAACTGCGGCCACCACGAGGACGCGGGCGCGCTCTGCGCAG___GCCTGGGTCCCCCAACGCTCACAGCACTGCCATCCTCAGCCACAAGAGAGGACTGGGCTTGGCAGACAGATCCGTCCG___CTACAGGAGTTGGCCCCCAGCCTTCCCGGGAGACAGCACTGCTCACCACCGCCGCCTGGGCCGCGGGGAAGAAAA___GTGGACGGCTGCGACTGGTGGGCGGCCCGGGTCCGTGCCGCGGCCGCGTGGAGGTGTTGCACGCCGGGGGCTGGGGCACCGTGTGCGACGATGACTGGGACTTTGCGGACGCGCGCGTGGCCTGCCGCGAAGCGGGCTGCGGGCCTGCGCTGGGCGCTACGGGACTGGGCCACTTCGGCTACGGCCGCGGCCCCGTGCTGCTGGACAACGTGGGCTGCGCCGGCACCGAGGCTCGCCTGAGCGACTGCTTCCACCTGGGCTGGGGCCAGCACAACTGCGGCCACCACGAGGACGCGGGAGCGCTCTGCGCAG___GCCCAGAGGAGCTGGGACTGCAAGTCCAGCAGGATGGTTCTGAGACCACGCGGGTGCCCACTCCTCGGCCCAGGGACG___GGCATCTACGTCTGGTCAATGGAGCCCACCGATGCGAGGGACGTGTAGAGCTCTACCTAGGGCAACGGTGGGGCACTGTCTGTGATGATGCTTGGGACCTGCGGGCAGCCGGTGTCCTGTGCCGCCAGCTGGGCTGTGGCCAGGCCCTCGCAGCCCCTGGCGAGGCTCACTTTGGCCCAGGCCGAGGCCCCATTCTCCTGGACAATGTCAAGTGCCGTGGGGAAGAAAGTGCTCTGCTGCTCTGCTCTCATATCCGCTGGGATGCCCACAACTGTGACCACAGCGAGGATGCCAGTGTCCTGTGCCAGCCTTCATGACCCAGCCCGCTCTGCAGACCACCTCTTCTTCTGGGAGCTGTGACCTCCCTTCCTCCTCCAGGAAGCCCTCCTCTTGTGATGACTACAGTTCACTTTGCCCCTCCTTCCCTTGCCTGGGAGAGAGCCTACCTAGACAGTGCAGTCCTGCTTGGGGGAGCCTGGCTGTACCCCCGTCCACTTACTGCGTGACCTCAGCCTGTCATCGACTGTTGTGAGCCCAATTCAGTGAAAGCTCCTGTGGTTTTGCTCAGCCAAAACCAAAACGAGGGGAAGAGGATGATTCCTAACTCTTCTGTTTGGTGGGGCTCTTTTTATAGCACCAGACTCTGCCTTCCTTGACCTAGATCCAGGAGGCTCAGGGGCTCTTTAAATGGGGTATCTCCTCTTCCCCCAACCCATCTTGGGATCCCCAAGAAGAGGGAAGGCAGGAGGGGCCTACAGCTCCTACCTTGGGCCCTCAGGGGCTGCAGAGGAACCTGGGTCCCTGTCCTGCCCTGCTCCGCGAGGGCCTGGACTAACTCAGATGGTGCTCGGCTGGACAAGGGGACTGGGGGAGGGGCCAAAGCAGGGACAGTGGCCCCTCCCTGCAGCTGGAACCAGCATCTCTGATTTATGCCGTCTCCACCACAGAGCCTCCACTTTGCAGGAGTGAAGAACCCTGGGGGCCTGTAGCCACCAGTTCATAGGTGCCAAGTCAATAAAGCATTGTCCCCCGTCTCTTA)$ MAGVGPGGYAAEFVPPPECPVFEPSWEEFTDPLSFIGRIRPLAEKTGICKIRPPKDWQPPFACEVKSFRFTPRVQRLNELEAMTRVRLDFLDQLAKFWELQGSTLKIPVVERKILDLYALSKIVASKGGFEMVTKEKKWSKVGSRLGYLPGKGTGSLLKSHYERILYPYELFQSGVSLMGVQMPNLDLKEKVEPEVLSTDTQTSPEPGTRMNILPKRTRRVKTQSESGDVSRNTELKKLQIFGAGPKVVGLAMGTKDKEDEVTRRRKVTNRSDAFNMQMRQRKGTLSVNFVDLYVCMFCGRGNNEDKLLLCDGCDDSYHTFCLIPPLPDVPKGDWRCPKCVAEECSKPREAyGlEQAVREYrLQSFGEMADNFKSDYFNMPVHMVPTELVEKEFWRLVSSIEEDVIVEYGADISSKDFGSGFPVKDGRRKILPEEE|lwkekkkrlc* 01BR040 ENSG00000136560.14 ENSG00000232337.1(11420),ENSG00000224467.1(34265) +/+ ./+ chr2:161137063 chr2:161061966 5'UTR/splice-site intergenic duplication 2 5 1 84 17 high . . . . . ENSG00000136560.14 . ENST00000259075.6 . downstream upstream . ^(TTTCTCAGTGGAAG)TTCCCACTTCAACATAAGGGAGAGCTCTGGACAGTTTGAGCAGCATTGTTAGAGCCTGTGGAAAACACTTTACAACTGTGTAACTGTCTTCATCTTTACAGAGGAATAGTCTACAAAGGAAGACTTGTAACCTGGAGAAGAG|GAATTAAAGTGAAACTTGTGGGGAAGAGGAAGCTACGGCTCATATTTCAAGGACTTGCAGCTGGAAGAAGACATCCACTGTTTTCCACCCTTTTCCCCAGCAGAAACCATCTCTATCCACCTCCCAGACCCTATTTATTGTATTTATTATCTGTGATGCACTTCACACACTATATGTAGTAGAGTTCCCTAAGATTCCCTTTAATTCATTGTTTCAATAACACATTTATTGAGCACTTATTATGAC . 01BR040 ENSG00000136205.17 ENSG00000236078.2(12245),ENSG00000221845.4(13106) -/- ./- chr7:47506907 chr7:47642138 5'UTR/splice-site intergenic duplication 5 0 1 17 9 high . . Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%)| . . ENSG00000136205.17 . ENST00000311160.14 . upstream downstream duplicates(2),mismatches(1) CCGGAAGAATTAACCTCGAGTCTGCACGCTTTTAAGAACAAGGCCTTTAAAAAATCCAAAGTGTGTGGAGTTTGCAAACAAATTATTGACGGTCAAGGTATTTCATGCCGAG___CCTGCAAGTATTCCTGCCACAAGAAATGTGAAGCCAAG|GAGTACAGACATGGGGAGCTGTTGATACTTCTCCAGAAGGGGCGTGACTGACAGAGGGTTCAACCCAGGTCCAGTGG___CTCTGAGGTCCTGTGCTTCATAAAGTGTATGTTTTGCAAAAACACTGAGGTTCTCCCAGTTGTGCAGAG___GGCAGAAGAAGAAAAGCCATGTGAGGACACAGTAAGAAGGCGGACGTCTGTAGGCCAG . 01BR040 ENSG00000073614.13 ENSG00000188372.15 -/- +/- chr12:350621 chr7:76411561 CDS/splice-site intron translocation/5'-5' 1 3 0 29 8 high out-of-frame . ARID/BRIGHT_DNA_binding_domain(100%),PHD-finger(100%),jmjN_domain(100%)| . . ENSG00000073614.13 ENSG00000188372.15 ENST00000399788.7 . upstream downstream . ^(GACAGCACGGTAACTTCCGGAAAAGTCCTGAACCTCAGTGGAAAAGCCTTGCAAGAAACAATAACAAACGGGAGGAGGAAGCGATTCTGGGGTTTCTGTGTTGAACGGTTCTTGTCCGCGAAGATGCGCTTCGGCCTCTGTCAGGGGACTTGAACGGGCTTAGTGGGCTTCAGCCAGCTTTTCTCCACCGGTTCCCCACGGGGACCCCCCCCCCCCCCCGGCCGTTGCAATGGCGGGCGTGGGGCCGGGGGGCTACGCGGCGGAGTTCGTGCCACCGCCAGAGTGCCCCGTCTTTGAGCCGAGTTGGGAGGAGTTCACAGATCCGCTCAGCTTTATCGGCCGCATCCGGCCTTTGGCGGAGAAAACCGGCATCTGCAAAATTCGGCCGCCCAAG___GACTGGCAGCCTCCATTTGCCTGTGAAGTAAAAAGCTTTCGTTTCACTCCAAGAGTCCAGCGCCTGAATGAACTTGAG___GCAATGACCAGAGTGAGATTGGATTTCTTGGATCAACTAGCAAAATTTTGGGAACTTCAAGGATCTACTCTGAAGATCCCTGTGGTAGAGAGAAAAATCCTGGATCTGTATGCTTTGAGCAAG___ATTGTTGCCAGCAAAGGAGGTTTTGAAATGGTCACCAAAGAGAAGAAATGGTCTAAAGTGGGTAGTCGCTTGGGATATCTGCCAGGAAAAGGAACTGGGTCTCTTTTGAAGTCACATTATGAAAGAATTCTCTACCCATATGAGCTTTTCCAGTCTGGTGTGAGCCTTATG___GGTGTGCAGATGCCTAATTTAGATCTTAAAGAAAAAGTGGAGCCTGAGGTTCTCAGCACTGATACCCAAACTTCCCCAGAGCCAGGCACAAGGATGAACATTCTGCCGAAGAGAACAAGACGTGTGAAGACTCAG___TCAGAATCTGGAGATGTGAGTAGAAACACGGAACTGAAGAAACTTCAGATTTTTGGGGCTGGGCCCAAGGTTGTGGGCTTGGCAATGGGAACAAAAGATAAAGAAG___ATGAGGTCACCCGAAGACGAAAAGTTACCAACAGGTCAGACGCATTTAACATGCAAATGAGACAACGGAAAGGCACTCTCTCTGTTAACTTT___GTTGATCTCTATGTTTGTATGTTTTGTGGTCGGGGAAACAATGAAGATAAATTGCTTTTGTGTGATGGATGTGATGACAGCTATCATACATTTTGTCTAATTCCTCCACTACCTGATGTGCCCAAAGGAGACTGGAGGTGTCCTAAATGTGTCGCCGAG___GAATGTAGCAAACCTCGAGAAGCCTTTGGATTTGAACAAGCTGTACGAGAGTATACACTTCAGAGCTTTGGAGAGATGGCAGATAATTTTAAGTCTGATTATTTTAATATGCCAGTCCAT___ATGGTTCCCACAGAACTAGT)AGAAAAGGAATTTTGGCGGCTGGTAAGCAGCATTGAAGAAGATGTTATTGTGGAATATGGAGCAGATATCTCCTCAAAAGACTTTGGAAGTGGATTTCCGGTGAAGGATGGGCGGAGAAAGATTCTGCCAGAAGAAGAG|GGTCTCTCTCTGTCgCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGGCTCAACCTCCCAGGCTCAAGTCATCCTCCCACCTCAGCCTTGCAA...___AGACGGGGTTTCACCATGTCAG MAGVGPGGYAAEFVPPPECPVFEPSWEEFTDPLSFIGRIRPLAEKTGICKIRPPKDWQPPFACEVKSFRFTPRVQRLNELEAMTRVRLDFLDQLAKFWELQGSTLKIPVVERKILDLYALSKIVASKGGFEMVTKEKKWSKVGSRLGYLPGKGTGSLLKSHYERILYPYELFQSGVSLMGVQMPNLDLKEKVEPEVLSTDTQTSPEPGTRMNILPKRTRRVKTQSESGDVSRNTELKKLQIFGAGPKVVGLAMGTKDKEDEVTRRRKVTNRSDAFNMQMRQRKGTLSVNFVDLYVCMFCGRGNNEDKLLLCDGCDDSYHTFCLIPPLPDVPKGDWRCPKCVAEECSKPREAFGFEQAVREYTLQSFGEMADNFKSDYFNMPVHMVPTELVEKEFWRLVSSIEEDVIVEYGADISSKDFGSGFPVKDGRRKILPEEE|glslsprlecsgtiiahcrlnlpgsshpptsal 01BR040 ENSG00000130714.17 ENSG00000160539.6(3636),ENSG00000285287.1(58036) +/+ ./+ chr9:131513331 chr9:131312897 CDS/splice-site intergenic duplication 1 3 0 45 7 high out-of-frame . Dolichyl-phosphate-mannose-protein_mannosyltransferase__(100%),MIR_domain(100%)| . . ENSG00000130714.17 . ENST00000404875.6 . downstream upstream . ^(ACGCGCGCTGCTGCCCGTCTGGCCCCGCAGGCTCGGTGAATCGAACGTTGAGCAGGGCGGTGGGTGGTGCGGAGTGCCGAGCGGCCTCACCCCCAACCGTCGGCCCAGTCGGACGGTTCCGAGGCGTTGCCGGGAGCCGGGCGCGGCTCTGTGTGGACTCGGAGAAACGCGG___GTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAG___AATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCG___AGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAG___CCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGG___CATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAAT___GTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAG___GGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGAT___ATATGAGAACGGCCGAGGCAGCTCCCACCA)GCAACAGGTGACCTGTTACCCCTTCAAAGAcGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAG___GCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGACATGGTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACAC|ATGAGGAAACTGAGGCTCAGAGAGGGAAACCCATTTCCCTAAGGTTGCCCAGCTTGGATGTGGTGGAGCCAGGATCAGAAACCAGGCCTGAGTGGCCCCAGCGCAGAGAAGCCCTCCGGAAGACAGAAACGCAGGGCACCCGCCAACCTCGGAATGAGGCTGAACTGGCGAAGCGACAG MAYQIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSNVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNt|* 01BR040 ENSG00000143850.16 ENSG00000200408.1(14501),ENSG00000240710.1(26013) -/- ./- chr1:204261306 chr1:204577022 CDS/splice-site intergenic duplication 1 2 0 13 2 high out-of-frame . PH_domain(100%)| . . ENSG00000143850.16 . ENST00000272203.8 . upstream downstream . ^(GCCTGGGAAAGATGCTGGATCCTGCAGTAACCACAACAGCATCCTCTCCCTGCGCCAGGGACCTGCCAGCCGGAGAGATGACTGATTAGATCAGATTAGATCCGGAGCCCCGCTCTGCAGAAGGGGGCCCCAGGGGCGGGGGAGGAGGACCCCAGCTGGCCTGAGCTGGGGGGAGGGGTGCCTTGGGGCTCGCAGAGTTAGAGCTTTCCAGCGCGGGGATCACACCTCAGAAGCCG___CCACAATGAAAGACGGAACACATTTCTACACCCAGTGACTGGCCAGGTCCCAGAGGAAAACAAAAAATTTGACTTGAAAAT___ATCGACCTTGGACATGTCCAATAAAACAGGTGGGAAACGCCCGGCTACCACCAACAGTGACATACCCAACCACAACATGGTGTCCGAGGTCCCTCCAGAGCGGCCCAGCGTCCGG___GCAACTCGCACAGCCCGCAAAGCCGTCGCCTTTGGCAAGCGCTCACACTCCATGAAGCGGAACCCCAATGCACCTGTCACCAAGGCGGGCTGGCTCTTCAAACAG___GCCAGCTCCGGGGTTAAGCAGTGGAACAAGCGCTGGTTCGTCCTGGTGGATCGCTGCCTCTTCTACTATAAAG___ATGAGAAGGAAGAGAGTATCCTGGGCAGCATCCCCCTCCTGAGCTTCCGGGTAGCCGCAGTGCAGCCCTCAGACAACATCAGCCGGAAACACACGTTTAAG___GCTGAGCATGCCGGGGTCCGCACCTA)CTTCTTCAGTGCCGAGAGCCCCGAGGAGCAAGAGGCCTGGATCCAGGCCATGGGGGAGGCTGCTCGAGTACAGATCCCTCCAGCCCAGAAGTCAGTGCCCCAAGCTGTGCGGCACAG|ACCCTGCACTCGATGGATCAGCTGACACCACCAAGACCAGTAATCTGGCTTCACCAGTTCTGCCATCCCACCCAGGAACAGAAAACAGCAAGAAAACCTCACTCCGACCCCCTATGATTCCATCTCTAACCTGAC MSNKTGGKRPATTNSDIPNHNMVSEVPPERPSVRATRTARKAVAFGKRSHSMKRNPNAPVTKAGWLFKQASSGVKQWNKRWFVLVDRCLFYYKDEKEESILGSIPLLSFRVAAVQPSDNISRKHTFKAEHAGVRTYFFSAESPEEQEAWIQAMGEAARVQIPPAQKSVPQAVRHr|pctrwis* 01BR040 ENSG00000106683.15 ENSG00000106665.16 +/+ +/- chr7:74097189 chr7:74364309 CDS/splice-site CDS inversion/3'-3' 1 2 0 80 19 high out-of-frame . LIM_domain(100%)| . . ENSG00000106683.15 ENSG00000106665.16 ENST00000418310.5 . downstream downstream . ^(ACTGGGTTCACGTGGGCACGTGGCTCCACTCCGGTCACTGCTTCCTGGGCAGAGGGATGACGTGGAAGGTAGACCTAGGGGGGACAGGGTTGCTTCCTGCCCATGTCCAGCATTCTAGAATTGTCCACATCTAGGCAGGGCGTTCCACCATCAGTGCTGGACTGGACCACCCAATTCCTTTGGACGCTTGACTCAGCCCAAACCCGTGCTCCCTCCAGGACCCTGGGCAGGGCAGCCCCAGCTCCAG___GAAGCGAGTTGCCCGTGTGTGCAAGCTGCGGCCAGAGGATCTATGATGGCCAGTACCTCCAGGCCCTGAACGCGGACTGGCACGCAGACTGCTTCAG___GTGTTGTGACTGCAGTGCCTCCCTGTCGCACCAGTACTATGAGAAGGATGGGCAGCTCTTCTGCAAGAAGGACTACTGGGCCCGCTATGGCGAGTCCTGCCATGGGTGCTCTGAGCAAATCACCAAGGGACTGG)TTATG___GTGGCTGGGGAGCTGAAGTACCACCCCGAGTGTTTCATCTGCCTCACGTGTGGGACCTTTATCGGTGACGGGGACACCTACACGCTGGTGGAGCACTCCAAGCTGTACTG|GTCTCCCTTGGTGATGGACTCCTCCTCCACGCGGAACTGCAGATCCTCCACCTTCCTGCAGGGGAGGGAAAGAGGTGGCTGACCTGGCTTTGCCCAGAGCAACGGG MSSILELSTSRQGVPPSVLDWTTQFLWTLDSAQTRAPSRTLGRAAPAPGSELPVCASCGQRIYDGQYLQALNADWHADCFRCCDCSASLSHQYYEKDGQLFCKKDYWARYGESCHGCSEQITKGLVMVAGELKYHPECFICLTCGTFIGDGDTYTLVEHSKLYw|splvmdssstrncrsstflqgrergg* 01BR040 ENSG00000176155.19 ENSG00000182612.10 -/+ +/+ chr17:82104138 chr17:81644992 intron CDS/splice-site duplication/3'-3' 1 2 0 8 13 high . . |Tetraspanin_family(100%) . . ENSG00000176155.19 ENSG00000182612.10 . ENST00000574882.5 downstream upstream duplicates(1) CTCCTCAGTGATGGTGGCAGGGAACTGGCCATGAGCCCAGGACCCCAGGGCAGCGGACAGCCCCAGCCCAGCCAGTCCTAGGTCAGAGGCACGGAGCTGGATGTGTCAAGGCGGCTGCCCCAGGCGTGACTCCCTGTGACCCCGGATTCTTCTACCTGATGCTAATCTGAGGTCAACCCAGTAACTG|GAAACTGCAGGCCAGAAGCCCCTCTCTGTGCACAGGCCACCCACCTCAGGCTGCCTAGGTCCAGTGCCCAGGGAGGACCAGGCGGAGGCCTGGGGCTGCAGCTGCTGTCCCCCGGAGACCAAG(CACCAGGCCTTGAGTGGCACCCCCAAGAAAGGACCAGCCCCTTCCCTCTCCCCAGGGAGCAGCTGCGTCAAGTATCTGATCTTCCTCTCCAACTTCCCCTTCTCCCTGCTGGGGCTGCTGGCCCTGGCCATCGGGCTCTGGGGCCTGGCTGTCAAGGGGTCTCTGGGAAGTGATCTGGGGGGGCCCCTGCCCGCAGACCCCATGCTGGGGCTGGCACTGGGAGGGCTGGTGGTCAGCGCAGTGAGCCTGGCTGGCTACCTGGGCGCCCTCTGTGAGAACACCTGCCTGTTACGTGGCTTCTCTGGGGGCATCCTTGCCTTCCTGGTGCTTGAGGCCGTGGCGGGGGCCCTGGTGGTGGCCCTCTGGGGCCCGCTGCAAGACAGCCTGGAGCACACCCTGCGTGTGGCCATCGCCCACTACCAGGACGACCCAGACCTGCGCTTCCTCCTCGACCAAGTCCAGCTCGGGCTGAGGTGCTGCGGAGCTGCCTCCTACCAGGACTGGCAGCAGAACCT___GTACTTTAACTGCAGCTCCCCCGGGGTGCAGGCCTGCAGCCTTCCCGCCTCCTGCTGCATCGACCCCCGCGAAGATGGAGCCTCTGTCAACGACCAGTGCGGCTTCGGGGTCCTGCGCCTGGATGCGGACGCAGCTCAGAGAGTGGTGTACCTGGAGGGCTGCGGCCCGCCGCTCCGGCGGTGGCTGCGCGCGAACCTGGCTGCCTCGGGCGGCTACGCAATCGCGGTGGTGCTGCTGCAGGGCGCGGAGCTCCTGCTGGCCGCCCGGCTACTCGGGGCCCTCGCTGCCCGCAGGGGGGCGGCGTACGGCCCCGGAGCGCGCGGGGAGGACCGCGCTGGCCCCCAGAGCCCCAGCCCCGGCGCCCCGCCCGCTGCCAAGCCCGCCCGGGGCTGAGCGCACGCCCCGAGGTCCGAGACCGCCACGCACAGGGATACAGGGGGCGCCTCCGCCCGGCTAAAAAGCGCGGCCTGCGCCGCCGCCGCCGCCTGATTTCGCTCGGGCTTCGGGTGACTTCGCCGCAGGACCTACCCAGCTCGCTCACTTCGCTCGCTCCGCGTCCCCCATGCCAGCCCCCAACGCAGGGCGCCCGGCGAAGCCACGGGACTGGCGGGAGGAGCACGCGGGGCCGGAGGAAATCCTGAAGCTGACCCTCACCTCCGAGCCCCCACTCCCACCCCAGCCGCACAGTTCCCACCTCCTGGCACCTCCCTCCCCTGGGGCCGCCACCCCTTCTGGGCTCGTGATGGTGGAGCTAAGGTCCAGGCCTCTCCCTCCCGAGTGCATTTTTGGGGAGATAGTAAATGTTTTATTCGGGTGTATCATTCATACAGTAAAGACACCAATCTTC)$ . 01BR040 ENSG00000147883.12 ENSG00000147889.17 -/- -/- chr9:22008798 chr9:21968242 CDS/splice-site CDS/splice-site deletion/read-through 7 7 0 71 257 medium out-of-frame . . . . ENSG00000147883.12 ENSG00000147889.17 ENST00000276925.7 ENST00000304494.9 upstream downstream duplicates(1) ^(ACTCTGCCAGAGCGAGGCGGGGCAGTGAGGACTCCGCGACGCGTCCGCACCCTGCGGCCAGAGCGGCTTTGAGCTCGGCTGCGTCCGCGCTAGGCGCTTTTTCCCAGAAGCAATCCAGGCGCGCCCGCTGGTTCTTGAGCGCCAGGAAAAGCCCGGAGCTAACGACCGGCCGCTCGGCCACTGCACGGGGCCCCAAGCCGCAGAAGGACGACGGGAGGGTAATGAAGCTGAGCCCAGGTCTCCTAGGAAGGAGAGAGTGCGCCGGAGCAGCGTGGGAAAGAA)GGGAAGAGTGTCGTTAAGTTTACGGCCAACGGTGGATTATCCGGGCCGCTGCGCGTCTGGGGGCTGCGGAATGCGCGAGGAGAACAAGGGCATGCCCAGTGGGGGCGGCAGCGATGAGGGTCTGGCCAGCGCCGCGGCGCGGGGACTAGTGGAGAAGGTGCGACAGCTCCTGGAAGCCGGCGCGGATCCCAACGGAGTCAACCGTTTCGGGAGGCGCGCGATCCAG|ACATCCCCGATTGAAAGAACCAGAGAGGCTCTGAGAAACCTCcGGAAACTTAGATCATCAGTCACCGAAGGTCCTACAGGGCCACAACTGCCCCCGCCACAACCCACCCCGCTTTCGTAGTTTTCATTTAGAAAATAGAGCTTTTAAAAATGTCCTGCCTTTTAACGTAGATATATGCCTTCCCCCAC(TACCGTAAATGTCCATTTATATCATTTTTTATATATTCTTATAAAAATGTAAAAAAGAAAAACACCGCTTCTGCCTTTTCACTGTGTTGGAGTTTTCTGGAGTGAGCACTCACGCCCTAAGCGCACATTCATGTGGGCATTTCTTGCGAGCCTCGCAGCCTCCGGAAGCTGTCGACTTCATGACAAGCATTTTGTGAACTAGGGAAGCTCAGGGGGGTTACTGGCTTCTCTTGAGTCACACTGCTAGCAAATGGCAGAACCAAAGCTCAAATAAAAATAAAATAATTTTCATTCATTCACTC)$ MREENKGMPSGGGSDEGLASAAARGLVEKVRQLLEAGADPNGVNRFGRRAIQ|tspiertrealrnlrklrssvtegptgpqlpppqptpls* 01BR040 ENSG00000100908.14 ENSG00000092330.18 -/- -/- chr14:24141301 chr14:24241104 CDS CDS duplication 3 1 0 35 77 medium out-of-frame . . . . ENSG00000100908.14 ENSG00000092330.18 ENST00000419198.6 ENST00000399423.8 upstream downstream duplicates(2) ^(GCGGCCGCCAGCTAGGGGCGCGGGAAGGCGGGGCTCGGATGCAATCGGGACCTCCTCCTGGACTGGGCCGGGGGCGGACTCCGGGACCCAGGGCG)CCGGGAGCCGGCGGGCTACCTGCGAGTCGAGTTAGCGTTGTCGCCGAACCGAAGTGAGAGGGCACGGGGAAGGGTCAAAGAGCGTGCCGAAGCGCTGGAGGGAGCTTCACGGACGCGAGCTAGGCACCGGCTCGCCTAATCCGGTACTAATCCGGCTTGCTGCTTCCCGTCCAGGCCTCGCTCGCtgaGG|CTGAGTTGGATGCAGCCTGGAGTCTCTATCACCTCTTCTCTTGCCTGGAGACAATATGGTGTGGACATGGGGTGGCTGCTTCCAG(___AGTGCTCTGTTACTGACTCAGTGAACCTGGCTGAGCCCATGGAACAGAATCCTCCTCAGCAACAAAGACTAGCACTCCACAATCCCCTGCCAAAAGCCAAGCCTGGCACACATCTTCCTCAGGGACCATCTTCAAGGACGCACCCAGAACCTCTAGCTGGCCGACACTTCAATCTGGCCCCTCTAGGCCGACGAAGAGTTCAGTCCCAATGGGCCTCCACTAGGGGAGGCCATAAGGAGCGCCCCACAGTCATGCTGTTTCCCTTTAGGAATCTCGGCTCACCAACCCAGGTCATATCTAAGCCTGAGAGCAAGGAAGAACATGCGATATACACAGCAGACCTAGCCATGGGCACAAGAGCAGCCTCCACTGGGAAGTCTAAGAGTCCATGCCAGACCCTGGGGGGAAGGGCTCTGAAGGAGAACCCAGTTGACTTGCCTGCCACAGAGCAAAAGGAGTGAGTGGAACAGAGTTGCTTCTTACTAGGAGCACATTCTTTGCCTGCCTTCCCTTCATCCTATCCTCTTTGCTTGCTCTCACCTCAGGAATTGCTTGGATTGCTACATGGACCCCCTGAGACTATCATTATTACCTCCTAGGGCCAGGAAGCCAGGTAGGTAGTCTGAGTCAGGATTGGATCAACAGCCTCCTCTCTTGGGGACTCTCAAGAGCCTGTGTTCATCTAGAAGTAGTAGTTTGATTCTGGTTTCCCTCCTACAGTGTGTCCTCCGTCTCTGTGCAGCTCCGTCATTACCATAGGGGACTTGGTTTTAGACTCTGATGAGGAAGAAAATGGCCAGGGGGAAGGAAAGGTGAGTGGGAAGGAGCAGAAAGCTGGGAAAGGGGATGGGTAGAACAAGACTGAGAAATCCACATGCTTCAGAATTCAGAGGGTTCAGGGAATGGTTTCGGATAGTAGGCTCTCCCTGCTCCCTTCTCTACAGGAATCTCTGGAAAACTATCAGAAGACAAAGTTTGACACCTTGATACCCACTCTCTGTGAATACCTACCCCCTTCTGGCCACGGTGCCATACCTGTTTCTTCCTGTGACTGTAGAGACAGTTCTAGACCTTTGTGATAGAACTAAAATGCTCTCTGTACTCTAGTCTCCTGCCTCCTCAGCTCTGCAAGTAGTTTAGTAGGAATGAAGTGGAAGTCCAGGCTTGGATTGCCTAACTACACTGCTAAAAATATTTGTAATCCTTAATAATTAAACTTTGGATTTGTTAAAA)$ e|aeldaawslyhlfscletiwcghgvaasrvlcy* 01BR040 ENSG00000103496.15 ENSG00000116337.19 +/+ +/+ chr16:31034326 chr1:109629123 intron CDS translocation 0 2 0 262 85 medium out-of-frame . Syntaxin(100%)|Adenosine/AMP_deaminase(98%) . . ENSG00000103496.15 ENSG00000116337.19 ENST00000313843.8 ENST00000667949.1 downstream upstream duplicates(1) ^(GCTGAGGCTGCGGGAGCTGGAGCGGGGAAGAAAAGGGAATTCCAACCTGTGGAACCTTGGGGGGTCCCCGGGGTCGGCGCCTTCCCATTGACTGTGGGCGGTGCAAGGGACGGAGCCTCTGGCGGCTCGTGGGGGTGTTGGGGTCCGCAGGGGGAGGGAGGGGAGTGTCAGAGTGTGAGCGGGGTACGGGAATTCCAAATTTGAGGGCCTCCCGGCTCTGGCGCCGGGGAGGGAGAGCTCAGGCCGCCATGCGGGACAGGACCCACGAGCTGAGACAG___GGGGATGACAGCTCGGACGAAGAGGACAAGGAGCGGGTCGCGCTGGTGGTGCACCCGGGCACGGCACGGCTGGGGAGCCCGGACGAGGA)GTTCTTCCACAAG___GTCCGGACAATTCGGCAGACTATTGTCAAACTGGGGAATAAAGTCCAGGAGTTGGAGAAACAGCAGGTCACCATCCTGGCCACGCCCCTTCCCGAGGAGAG|CCAAGGGCCAGCTGGCCAACTTCCAGGAGATGCTGGAGAACATCTTCCTGCCACTGTTCGAGGCCACTGTGCACCCTGCCAGCCACCCGGAACTGCATCTCTTCTTAGAGCAC___GTGGATGGTTTTGACAGCGTGGATGATGAGTCCAAGCCTGAAAACCATGTCTTCAACCTGGA(GAGCCCCCTGCCTGAGGCGTGGGTGGAGGAGGACAACCCACCCTATGCCTACTACCTGTACTACACCTTTGCCAACATGGCCATGTTGAACCACCTGCGCAG___GCAGAGGGGCTTCCACACGTTTGTGCTGAGGCCACACTGTGGGGAGGCTGGGCCCATCCACCACCTGGTGTCAGCCTTCATGCTGGCTGAGAACATTTCCCACGGGCTCCTTCTGCGCAAG___GCCCCCGTCCTGCAGTACCTGTACTACCTGGCCCAGATCGGCATCGCCATGTCTCCGCTCAGCAACAACAGCCTCTTCCTCAGCTATCACCGGAATCCGCTACCGGAGTACCTGTCCCGCGGCCTCATGGTCTCCCTGTCCACTGATGATCCCTTGCAGTTCCACTTCACCAAG___GAGCCGCTGATGGAGGAGTACAGCATCGCCACCCAGGTGTGGAAGCTCAGCTCCTGCGATATGTGTGAGCTGGCCCGCAACAGCGTGCTCATGAGCGGCTTCTCGCACAAG___GTAAAGAGCCACTGGCTGGGACCCAACTATACCAAGGAAGGCCCTGAGGGGAATGACATCCGCCGGACCAATGTGCCAGACATCCGCGTGGGCTACCGCTACGAGACCCTGTGCCAGGAGCTGGCGCTCATCACGCAGGCAGTCCAGAGTGAGATGCTGGAGACCATTCCAGAGGAGGCGGGTATCACCATGAGCCCAGGGCCTCAATGAGCCTGGTCCATGAAGTGCCCACCACATCGCAGCACTTTTACCACGTTTTGTCCTCAGACCCCGCCCATGCTGTGTGGTCTCTGCATGTCTCCATTCTTCTCTGTCTCTGTCTTGCATGTCTCCTACCATGTCACTGTCCCTGGGCCACCCAGTGAAAGCAAAGCCTGGGAATCTGCTCATTGTTGTTTGGGCTCAGGTATTGAGCCTGATGGCCCAGGTATTGAGGGCCTCCCCTGCTGGTGGCCCTGTCCTGGGATCCTCAGAAGCCTGACTGTCCTATGGGCTTCTCCAGTGTCCACAGGGGCTTGGGATGGTTGTGGGGGGCTGGCCCCTCTAGCCTTTCCGGTCCTTCCTGGGCAAATCTAAGCCTTGGCCAGGGCCGAAGTTTAGGCCCCTGTCTTGTTCATGTAGCCGAGGGGCAGGCGGGGGACCTCTACACCTCTGCTGTGGGCACGGGGCTGCTGAGGGTCTGTGGAACTCCAGCAGCTCTGCACTGGGTAGAGCTGGGCCTAGAGCTCAGTCACAGGCCTGGGCTTCCTGGCCTGAGTGGGTAGACGCAGGCGGCAGAGGTGCTGGACCACATCTCCGCCAAGTCACTGCCCAGCAGCCTTCTCCGTCCTGTCCCCAGCCCACGTGCTCCTTGGGTGTCAGCTTCCTGTGCCTCTGTGGGAGAGGGCAGCTGCCTTGTGTTATGTCTGGGGCCACAGTTGCTGCAAAGTCCTGGATCTGCCACTCAACCCCGGGAGTGGTGTTCCCAGTGTGGCTCCCAGAGCTTTGACCAGATTGTGATCCCAGCTGGCCCCTATGTTGTGTTCTGGACTGAGGCCTTTGCTGTGAACTGCAGTGTTTCATACGAACCATCTTTCCTAGTGCATGAGAAATAAAGATTATTTAAGTAATG)$ MRDRTHELRQGDDSSDEEDKERVALVVHPGTARLGSPDEEFFHKVRTIRQTIVKLGNKVQELEKQQVTILATPLPEEs|qgpagqlpgdagehlpatvrghcapcqppgtasllrargwf* 01BR040 ENSG00000179295.18 ENSG00000076248.11 +/+ +/+ chr12:112509488 chr12:109109989 3'UTR 3'UTR duplication 0 1 1 211 174 medium stop-codon . Protein-tyrosine_phosphatase(100%),SH2_domain(100%)| . . ENSG00000179295.18 ENSG00000076248.11 ENST00000351677.7 ENST00000242576.7 downstream upstream duplicates(1) ^(AGTCTCCGGGATCCCCAGGCCTGGAGGGGGGTCTGTGCGCGGCCGGCTGGCTCTGCCCCGCGTCCGGTCCCGAGCGGGCCTCCCTCGGGCCAGCCCGATGTGACCGAGCCCAGCGGAGCCTGAGCAAGGAGCGGGTCCGTCGCGGAGCCGGAGGGCGGGAGGAACATGACATCGCGGAG___ATGGTTTCACCCAAATATCACTGGTGTGGAGGCAGAAAACCTACTGTTGACAAGAGGAGTTGATGGCAGTTTTTTGGCAAGGCCTAGTAAAAGTAACCCTGGAGACTTCACACTTTCCGTTAG___AAGAAATGGAGCTGTCACCCACATCAAGATTCAGAACACTGGTGATTACTATGACCTGTATGGAGGGGAGAAATTTGCCACTTTGGCTGAGTTGGTCCAGTATTACATGGAACATCACGGGCAATTAAAAGAGAAGAATGGAGATGTCATTGAGCTTAAATATCCTCTGAACTGTGCAGATCCTACCTCTGAAAG___GTGGTTTCATGGACATCTCTCTGGGAAAGAAGCAGAGAAATTATTAACTGAAAAAGGAAAACATGGTAGTTTTCTTGTACGAGAGAGCCAGAGCCACCCTGGAGATTTTGTTCTTTCTGTGCGCACTGGTGATGACAAAGGGGAGAGCAATGACGGCAAGTCTAAAGTGACCCATGTTATGATTCGCTGTCAG___GAACTGAAATACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAACTCAAGCAG___CCCCTTAACACGACTCGTATAAATGCTGCTGAAATAGAAAGCAGAGTTCGAGAACTAAGCAAATTAGCTGAGACCACAGATAAAGTCAAACAAGGCTTTTGGGAAGAATTTGAG___ACACTACAACAACAGGAGTGCAAACTTCTCTACAGCCGAAAAGAGGGTCAAAGGCAAGAAAACAAAAACAAAAATAGATATAAAAACATCCTGCCCT___TTGATCATACCAGGGTTGTCCTACACGATGGTGATCCCAATGAGCCTGTTTCAGATTACATCAATGCAAATATCATCATG___CCTGAATTTGAAACCAAGTGCAACAATTCAAAGCCCAAAAAGAGTTACATTGCCACACAAGGCTGCCTGCAAAACACGGTGAATGACTTTTGGCGGATGGTGTTCCAAGAAAACTCCCGAGTGATTGTCATGACAACGAAAGAAGTGGAGAGAGGAAAG___AGTAAATGTGTCAAATACTGGCCTGATGAGTATGCTCTAAAAGAATATGGCGTCATGCGTGTTAGGAACGTCAAAGAAAGCGCCGCTCATGACTATACGCTAAGAGAACTTAAACTTTCAAAGGTTGGACAA___GGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAGGAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAG___TGCTGGAATTGGCCGGACAGGGACGTTCATTGTGATTGATATTCTTATTGACATCATCAGAGAGAAAG___GTGTTGACTGCGATATTGACGTTCCCAAAACCATCCAGATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAGCACAGTACCGATTTATCTATATGGCGGTCCAGCATTATATTGAAACACTACAGCGCAGGATTGAAGAAGAGCAG___AAAAGCAAGAGGAAAGGGCACGAATATACAAATATTAAGTATTCTCTAGCGGACCAGACGAGTGGAGATCAGAGCCCTCTCCCGCCTTGTACTCCAACGCCACCCTGTGCAGA___AATGAGAGAAGACAGTGCTAGAGTCTATGAAAACGTGGGCCTGATGCAACAGCAGAAAAGTTTCAGATGAGAAAACCTGCCAAAACTTCAGCACAGAAATAG___ATGTGGACTTTCACCCTCTCCCTAAAAAGATCAAGAACAGACGCAAGAAAGTTTATGTGAAGACAGAATTTGGATTTGGAAGGCTTGCAATGTGGTTGACTACCTTTTGATAAGCAAAATTTGAAACCATTTAAAGACCACTGTATTTTAACTCAACAATACCTGCTTCCCAATTACTCATTTCCTCAGATAAGAAGAAATCATCTCTACAATGTAGACAACATTATATTTTATAGAATTTGTTTGAAATTGAGGAAGCAGTTAAATTGTGCGCTGTATTTTGCAGATTATGGGGATTCAAATTCTAGTAATAGGCTTTTTTATTTTTATTTTTATACCCTTAACCAGTTTAATTTTTTTTTTCCTCATTGTTGGGGATGATGAGAAGAAATGATTTGGGAAAATTAAGTAACAACGACCTAGAAAAGTGAGAACAATCTCATTTACCATCATGTATCCAGTAGTGGATAATTCATTTTGATGGCTTCTATTTTTGGCCAAATGAGAATTAAGCCAGTGCCTGAGACTGTCAGAAGTTGACCTTTGCACTGGCATTAAAGAGTCATAGAAAAAGAATCATGGATATTTATGAATTAAGGTAAGAGGTGTGGCTTTTTTTTTTTTCTTTTTTCCAGCCGTTGACCAATTATAGTTCGGCTGTTGACTGAGAAGTTTGTGGTGGGAAAACGTTTGCCATATTTTCTTTGCATTTGAATAATTGTCTTGTACTTAGAAAAAAGGCGTCTATGAATGACCAGTGTTTTTGGTCGCCAAATGTTGCTGACAAACTTATCCCAAAACTTTAGTGGCTTAAAAAAACCTGCCCCCAACTGTTAGTCAATCTGAGCTGGGCTCAGCTGGGCTGTTCTTCTGCCAGCCTGCAGGTGGCCACTCATGTGGTCAGCAGGTCGGCGGAGAGACTGGGATGGCTGGGCTTCTCTCTCTGCCTGCAGTCCTGAGTCTCTCCTTCTTCGTGTAGTCTCTTTCAGTGGCCTGGCTGGCAGGGTAGCTAGACCTCTCACATGCAGCTCAGAGCTCCCAAGAGCTCAAAAGCAGAAATGGCCAGGCCTTCTGAAAACTTAAGTCCAGAATTGTCACAGTGTCCCTTCTACTTCCCTCTATTGATGATGATGATGATGATGATGATGATGATGATGATGATGATGATGGTTTTTTCTAATCAGAAGAAAGCTGGGGTATGCCCTCTACTTACTAAACAAGTCACAAGCCCAGCTCAGATTCAAGAAAAGGGTGTGAAGTAGAGGTGCAGTTAAGTGGGGGGCCACTAGTCTAACAGACGGTCACAACCAGTGCCATGGAAAACCAAGGATATTAGCAAAAGCAGAAGTTGCTAGTGACCTTGGGAAGCCGAAGCTGCTTACAGTAGCTGGGACAAGCTGAAAGTCAGACTAAGAAATAAAGAGAGGGCCTTCAAGAAGCTTCCTGAATGATTTCTGCTAGCCCTGAGCCTATTTTTGGAACCAGCACTTGGGGAAACTGATCTTGTGAGGATGGATGTGTTTAGGGACACAGGGCTTTTGAGAGCAGCACCACCCCACTGGGGCATCCCCAGACTTGGGAAACGTGACTCTTTCTTAATGCCACTGGGTTTTAGTCAGGCCACAGTGAGAAGGAACAGCCCTAACAGGCCTCCAGCCAGGTTGAATGAGCTCATTTTTGTTGTAGCCAACCAGTAAGATTTGCTAATGTTCTACATTAAGTGCCTTCTCCAAAGACATCCCTCTTTGCCTCATATGTTGAATCATCCAGTGCGGATATTTCAATGAAAATATCATTGGTTGACTTTTGTGATGGTAATAATGCTATGGCATCTTTGCCATGAAGTTGTGGCCTCCTTGGATTCTTCTGACTTTGGCTTCTGAAAGGAAGGCCTAGATCCAGCCCTGGTGGTAGTTCCTTTCTGAGGTCTCTCAGTCCCTTGAGACTTTGGGGTAGTTTGGCTGCCATTCTCACTGACAAAATGTATATCAGCCCCCACCTCCACCCCCCAATATTCCTTGAACTTTGAATTGCTTCAGAACACAGGTGTGGCCTGAAGGTATTCCCTTATTAGGGAAGTGTCACTGCTGTCTTCTAGTCAAACTTGTAAAGAAAAAGATTCCAGTTCAGTATTTGCAGCAAGAAGCTTGAATGCTGTTCTTTTTATCGCATTGTTACATCGACTCATTCTCCATTTTGCTTTGGTTTTGTCTTGACTTGACTTGACTTTGGGGGTAAAGTCTTTCACCAGCACACAAGAGTTTGATTGTACAAATATATCTTCTGCATTAACATCTCTGCCTGTTGCTTAAGATCAGTTGCTTTTATACTCAGAATGGAAATACCTGATCTTGGCTAGTTTTGTTATAAGATATTGATTTCATTTAGATTTCCCTCCACGAGGTCAGCAAACTATCATGTTCTTATGTAAACTTAGGCCAAGGCCAGAGTTATCATAGTCCCTAGGTTGCTACGGCTTATCATGTGCTTGGTAAAAGGTGATCGCAGGTTCTCAGACGAGTTTACTTTACATGAGATGGAATCAGGCAGAGAGGCTGGGATGATGGAGAAAGCTCGAGGTGAAGTTTTAAAAAAAAAGTTGTGGAAAGGAAAGTTCCAAAGAGGTGGTTTCTGAGGAAGTCAGAGCGCCCAGGGCCAGAGCAGTCAGTAATGGGTGAATGAGGTTGTTTGGAAAGTCGGTGTGACAGACACATGGATGCCATCTACTTCTAGGTTGCTGGTGGGTATTAAATATGCACAATATTCCATAGCTCACTGAGGATTTTAAAATTATAAGCATAGGATTTTATATTTTGGGGTGAAAGAATTATCTGGCACATTAGGTATTGGAGTTTAAAAAAAAAGCCAAATTTCACAGTCTTAATAACTTTTTTTAAAAAAAACTAAAAGGCGCTTCATGTCCAGTGTGTGGCCCTTCTGAAACTTATGGTCATCTCTCCCACTGAAACCAAGGTCTTTTCAAATGTGGCTAAATGGGGATGAGGAGACACGGGTAGGACTTTCTTGGTGTGTGTGCATTCTTTAAAGAGCCAAGTTGCTTCGGGGAAACAGCCAGGAAAATGGTCAAGATTATTTTTAGAGGTTATTTTATTGGGGATTTTAAGAACTAATAACATCTTGAGTTATTTTTAATTCAGGGGGATGTGGAAAGGTTTGCAATTGTCAAGTGTTTTGTTGTAGCTTAGTATCCATAAGGGAAACTTAGACTATAGACATAACTACAAAGCCAGTGCAGCTTTTGTTTTCTGTATGTTGTTGGGGGATCAACTTTCACACATAGCAAGCACATGGCCTCCCTGATGTCAGGATGCCTTTGTTAGGATCTGTATTTGCCCTTAATTTTGTTGAAATCTTTTTTCCTTCTTCCTCTTGAAAAGTTCCAAAATATAGTTTATTGTATCTTTCATCACTAAAAATTTGTTCCTTTTTCACTATGGGCAGTTCACACAAGGCAAAAACTATTGAACAGTTGGTTTTAGTGTGTTGTATAACTTTGCTGTATATCAAACTAATTTTGACAAGTTTTCATCCTAAGCCTCAAATCATGTAA)TTAATAATTTGCCTGTTTATTTATGACCTAATTGTGATTCTTTTATTAATAAAAGCTAATGGGAAAAGGATCCCTGATTAAGCTGATGACcAG|CTTTGAGAAGCTGCTGTTAACGTATTTGCCAGTTACGAAGTTCCACTGAAAATTTTCCTATTAATTCTTAAGTACTCTGCATAAGGGGGAAAAGCTTCCAGAAAGCAGCCATGAACCAGGCTGTCCAGGAATGGCAGCTGTATCCAACCACAAACAACAAAGGCTACCCTTTGAC(CAAATGTCTTTCTCTGCAACATGGCTTCGGCCTAAAATATGCAGAAGACAGATGAGGTCAAATACTCAGTTGGCTCTCTTTATCTCCCTTGCCTTTATGGTGAAACAGGGGAGATGTGCACCTTTCAGGCACAGCCCTAGTTTGGCGCCTGCTGCTCCTTGGTTTTGCCTGGTTAGACTTTCAGTGACAGATGTTGGGGTGTTTTTGCTTAGAAAGGTCCCCTTGTCTCAGCCTTGCAGGGCAGGCATGCCAGTCTCTGCCAGTTCCACTGCCCCCTTGATCTTTGAAGGAGTCCTCAGGCCCCTCGCAGCATAAGGATGTTTTGCAACTTTCCAGAATCTGGCCCAGAAATTAGGGCTCAATTTCCTGATTGTAGTAGAGGTTAAGATTGCTGTGAGCTTTATCAGATAAGAGACCGAGAGAAGTAAGCTGGGTCTTGTTATTCCTTGGGTGTTGGTGGAATAAGCAGTGGAATTTGAACAAGGAAGAGGAGAAAAGGGAATTTTGTCTTTATGGGGTGGGGTGATTTTCTCCTAGGGTTATGTCCAGTTGGGGTTTTTAAGGCAGCACAGACTGCCAAGTACTGTTTTTTTTAACCGACTGAAATCACTTTGGGATATTTTTTCCTGCAACACTGGAAAGTTTTAGTTTTTTAAGAAGTACTCATGCAGATATATATATATATATTTTTCCCAGTCCTTTTTTTAAGAGACGGTCTTTATTGGGTCTGCACCTCCATCCTTGATCTTGTTAGCAATGCTGTTTTTGCTGTTAGTCGGGTTAGAGTTGGCTCTACGCGAGGTTTGTTAATAAAAGTTTGTTAAAAGTT)$ . 01BR042 ENSG00000197329.12 ENSG00000225889.8(50760),ENSG00000238012.2(26868) -/- ./- chr2:64144081 chr2:64303613 5'UTR/splice-site intergenic duplication 73 55 4 279 117 high . . . . . ENSG00000197329.12 . ENST00000358912.5 . upstream downstream duplicates(32) ^(AGTGACCCAGAGGCGGTGTGAGGCGGAG)GGACCGTCGGGGGGCGCCGCCGCCGCCTCCACTAGCAGCAGCGGCAGCAGCCCTAGTCCCGCGGTGCGGTCGAATTGGTCCCCAGCCCTCCGGGAGCGCACCACAAAGCAGCCCCAACGCCTCTCCCTGCGTCCGCGGCTCCTCAGCGCTCGGCTCCGTGGTCAACTTCCCCTCGCTGGGCTCGGCTGGCGGGCGCGGAGGGCAGCGGCGGAACGGCGGGCTGTCTGCTCGCGCTCCCCGCGCACAACACTTCACCCTCTCGCCTCGGGTCTCGGGGGCCGCTCTGGGATCCCGGCCACCAGCAATTGTCCG|CATATGCTTACAAAATTTGAAGACCACAACCACTCTCCAAATACAAATGCAGCAAGTGATTTGAAGATCATAGAAATGATAATACAGGCAAAAAATGCAAGAAATCTCCCCTGCCAAATTATTCAACTATGTATGACTTCTGCCTTTTCACAGCGCCAATTTGCCATGCTATGCGTTTCATCTTTGCATCATTTTCAATACTGGATGTATAAATTGTGTAAAGACTTTCAGAG . 01BR042 ENSG00000182718.17 ENSG00000273721.1 -/- -/- chr15:60364429 chr15:60409399 CDS/splice-site exon duplication 67 40 2 5178 134 high out-of-frame . Annexin(100%)| . . ENSG00000182718.17 ENSG00000273721.1 ENST00000451270.7 ENST00000620477.1 upstream downstream duplicates(19),low_entropy(1),mismatches(3) ^(GCTCAGCA)TTTGGGGACGCTCTCAGCTCTCGGCGCACGGCCCAG___CTTCCTTCAAAATGTCTACTGTTCACGAAATCCTGTGCAAGCTCAGCTTGGAGGGTGAT___CACTCTACACCCCCAAGTGCATATGGGTCTGTCAAAGCCTATACTAACTTTGATGCTGAGCGGGATGCTTTGAACATTGAAACAGCCATCAAGACCAAAG___GTGTGGATGAGGTCACCATTGTCAACATTTTGACCAACCGCAGCAATGCACAGAGACAGGATATTGCCTTCGCCTACCAGAGAAGGACCAAAAAG|CTTGTTCCAGTTATCCAGAATGCCCACAAGAATACCACAGGTTTTGGAAGAGAAAGGGGATGGCAGATGTTAGCCTGTTCCTGTGGAGACTTACATAGGGCTGATGTCATTCATTGGAAACCACATCACACTTAGCTATTCCCTTGCTTGTGGGAATACTGGATTT$ MSTVHEILCKLSLEGDHSTPPSAYGSVKAYTNFDAERDALNIETAIKTKGVDEVTIVNILTNRSNAQRQDIAFAYQRRTKK|lvpviqnahknttgfgrergwqmlacscgdlhradvihwkphht* 01BR042 ENSG00000106077.18 ENSG00000165171.11(18322),ENSG00000175877.4(321) -/+ ./+ chr7:73738483 chr7:73860838 intron intergenic deletion/read-through 33 64 0 194 199 high . . . . . ENSG00000106077.18 . . . downstream upstream duplicates(23),low_entropy(2),mismappers(1),mismatches(4) CTCGAAAGCTCACCCTACGGCCTGTCTGCTGGGCCAAGATCTTGGCGATGGAGTTGAAGTTAGTTTTGCTGCCGAAGAGCCCGTGCAAAAAGACGACGGCCGGGAGGGCTGCCTCCCCGTCCAGAAGCCTGTAGGAAAGCGGAAGCGGCCTGGCAGGGGAAGGATCGAG|GGTCTTGCTATGTTGCCCATGCTGGTCTCAAACTCCTGGCCTCAAGCGATCCTCCTACCTTGGCCTCCCAAAGCATTGGGAATCCAGGCATGAACCCCGTTCCTAGGCGGCACTTGATTCCTGTTCCAAGATCTGGGGAAATCCGACCCGAAGGAAGCTTTGCTCTAAGACCTCCTTGGCCGTGTTGGGCTCAGACGTGGACTGAGGTTTCAGAGGAAGCAGTGGAGCaGCAGGAGCCAGG . 01BR042 ENSG00000075785.13 ENSG00000239405.1 +/+ +/+ chr3:128726359 chr3:128538012 5'UTR/splice-site exon duplication 29 33 0 1310 62 high . . . . . ENSG00000075785.13 ENSG00000239405.1 ENST00000265062.8 ENST00000474255.1 downstream upstream duplicates(11) ^AGTCTTGGCCATAAAGCCTGAGGCGGCGGCAGCGGCGGAGTTGGCGGCTTGGAGAGCTCGGGAGAGTTCCCTGGAACCAGAACTTGGACCTTCTCGCTTCTGTCCTCCGTTTAGTCTCCTCCTCGGCGGGAGCCCTCGCGACGCGCCCGGCCCGGAGCCCCCAGCGCAGCGGCCGCG|TAACAATGTTGGCATGGCTGTTTTTGTTTCTGCTCAGCCCCAGCCTGGTCCTCACCATCTCCTTCCACCTGCCCATTAACTCCTGAAAGTTCCTCCATGAGGAGATCCACAAGGACCTGCTAGTGATGGGTGCGTACGAGATCTCCAACAAGTCTGGGGGTGCTGGCAGCCTGCACAGCCACCTCAAGGTCACAGATTCTGCTGGCCACATTCTCTACTCCAAAGAGGATGCAACCAAAGGGAAATTTGCCTTTATCCTGGAAGATTATGACATGTTTGAAGTGTGATTTGAGAGCAAGGAAACAGGGTGGATACCTGATCAATTCGTAATCCTAGACATGAAGCATGGAGTAGAGGCAGAAAAGAAATTACAAGGAGAT(TACAAAAGTCGAGAAGCTTAAACCGTTATAGATGGAGCTGCAATGCCTAGAAGACCTGTCAGAATCTATTGTTAATGATTTTGCTACGTGAAGAAGAGAGAGATGTGTAGTACTAATGAATCAACAAACACTTGAGCCCTGTACTTCAGTGTCTCTTTAATGTTCTGCTTCATTGGACTAGCCACCTGGCAGGTTTTCTACCTGTGTTGCTTCTTCAAGGCCAAGATGTCGATTGAGTAA)$ . 01BR042 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 18 20 0 53 64 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(6),mismappers(1),mismatches(2) AGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAG(AGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR042 ENSG00000183914.14 ENSG00000181222.17(34506),ENSG00000201489.1(2832) +/+ ./+ chr17:7760932 chr17:7534264 CDS/splice-site intergenic duplication 13 15 2 41 42 high out-of-frame . Dynein_heavy_chain__N-terminal_region_1(100%)| . . ENSG00000183914.14 . ENST00000572933.5 . downstream upstream duplicates(3) ^(CTTCTACATCGCGAATATCCCTCGCCGGCCTGGCGCCCGGCGCCATCTGCTGGACCCGTTCCGGCTGGGGCGCACAGACCTGGGCGCGGGGTCGGGCGATTGGGTTCTCCCTGCCTTTTCAATGTCCTGCGGGGCGGTGGCTCACTGTCTCTCGCCCCAGCCCTTCCAGCTGGGTCCTGACACCAGGCCCCCCGCACCCTTCGGCTCGCCAGATGTGGCTACTTTCCTTTAGTCCCGGAGCCTTCAAGCCCTGGGTCCCTGAGGGGTAGACCTGGGCGGGGTGGGGCCGCGAAGCAGGGATCCAGGGCGCCTGCGCGGAGGAGGCGGGCTCCGAGGGGCCGCACACCGGCCACTCGCCCCTCCCTGCCCGGGGTTGCCATGGGGACGCGTGCAGACGCCGGCCCGAGAGGGCTGCGAGGGGCAACTTCTTAGAGTGGCCCATCGGTCGGTCTAGGGAGGGGAGGGTCAGCGTGGCAAGGTGTGTGTCGGGGGCAGAGGGAAGGAGGGAAGGAGTGCTGGGGAGAAGGGGCAGTAGTGTCGGGGTAGGAAGGGACAGTTGTTGGGGAGAAGAGGCAGTTGTGGAGGGAGAGGGAGCAAGGAATATTTGTGTGGGGGAGGGGGAGGAGAAGGGGCAGTTGTGACAGCTGGGGGGGAAGAGCCATTCTGAGGGGAAATTTGCCTGCTGGTAACCAGTTTAAGGATACCAGCTGCTGGTATAAATACTGCTGGATAAATACTGCTGGATTTATACTGCAGGATAAATACTGCTGGCCCCTGCGGTATTTCCTAGTACTAGAGTGAGCCCCGACTTAGCAGAGCAGTTCCTCCTGGGGCCTGCGGTGTGGGATCGCGTGGTGAACCCCACGGTGCATGCGCCTCAGGCTCTAGTTTGAGGCAGGAAAGCGCAGCTTGATGCTTCTCTGGAGACTGATGGAGGAAGCCTCCTTGCTGTAGTTGGTTTTATTGATTTGCTGGCCTAACAGAACGTTTTTCCTTGGAGCAAAGTACAAATCCTTCAAGTTTGAAATTCATAACCTGAGATCAATGCCTGTGGCAGCCTGTGGGGATGAGGAAGGAGAGCCACAGGTGCCGTTAGGCTGCAGCCTAATGAAAAGAGAGTGCCCAGCGCCTCAGACTTTGCGCCTGGGATTCTGAGCACCTGTCCGAGATCCCCGCTTCCTGCCATCCTACCTTTCTGAGAGAGGCACCACTGTGACCTTCCTCGTGCCCCAATTGCTTTTTCCTCATGACACAATTTGAAATTTATGATTGGATGACTTTTGTCCTTCTTTCTTCCAATCTGTTCTCAGGGCATTTTGAGTCAAATAAATGATCCTGACTGATCTTAACCATTAGCACAGAGTTCCTCAGCCAACTCTGCTAAGAGACCTCAGTACACACAAAACAGTGTTCCTGCCCCTCAGGACTTCAAAGCGATAGACCCAG___GTTTTGCCTGCACGATGTCCAGCAAAGCTGAGAAGAAGCAGCGATTGAGTGGCCGAGGAAGCTCCCAGGCAAGCTGGTCAGGGCGGGCCACTCGGGCTGCTGTGGCCACACAGGAGCAGGGGAATGCCCCGGCTGTCAGTGAGCCAGAGCTGCAGGCTGAGCTCCCCAAGGAGGAGCCTG___AGCCACGGTTGGAGGGACCTCAAGCACAGAGTGAAGAATCAGTGGAGCCCGAGGCAGATGTG___AAGCCCCTCTTCCTTTCCCGAGCTGCGCTGACAGGACTGGCGGATGCAGTGTGGACACAGGAGCATGATGCCATTCTGGAACACTTTGCCCAGGACCCTACAGAATCCATCCTCACCATCTTCATTGACCCTTGTTTTGGGCTGAAGCTAGAGCTGGGCATGCCTGTACAG___ACCCAGAACCAGCTTGTCTACTTCATTCGCCAAGCACCAGTTCCCATCACCTGGGAGAACTTCGAGGCAACTGTGCAGTTTGGGACGGTGCGGGGCCCCTATATCCCGGCCCTGCTTCGGCTGCTCGGTGGAGTCTTTGCCCCTCAGATCTTTGCAAACACAGGCTGGCCTGAGAGCATTAGAAATCATTTTGCTTCTCATCTGCACAAGTTCTTGGCCTGCCTGACAG___ACACTCGGTACAAACTGGAGGGGCACACGGTCCTCTACATCCCTGCAGAGGCCATGAACATGAAGCCTGAGATGGTGATAAAGGACAAAGAGCTGGTGCAACGGCTAGAGA___CCTCCATGATCCACTGGACCCGGCAGATAAAGGAGATGCTCAGTGCCCAGGAGACTGTGGAGACAGGAGAAAATTTAGGTCCTCTGGAGGAGATTGAGTTCTGGCGCAACCGATGCATGGACCTGTCTGGCATCAGTAAGCAGCTGGTGAAGAAGGGAGTGAAGCACGTTGAATCCATCCTGCACCTTGCCAAGTCGTCCTACTTGGCGCCCTTTATGAAACTGGCACAGCAGATCCAG___GATGGCTCTCGTCAAGCACAGTCAAACCTGACCTTTTTGTCAATCCTGAAGGAACCTTACCAGGAGTTGGCTTTCATGAAGCCCAAGGACATCTCTAGCAAGCTCCCTAAGCTGATCAGTCTCATCCGCATCATCTGGGTCAACTCTCCCCACTACAACACTCGGGAGAGACTGACCTCGCTCTTCCGAAAG___GTATGTGACTGTCAGTATCACTTCGCCCGCTGGGAAGATGGCAAGCAGGGTCCCCTTCCTTGCTTCTTTGGTGCCCAGGGGCCACAGATAACACGGAACTTGCTGGAGATTGAGGACATCTTTCATAAAAATCTGCACACGCTGCGAGCCGTTCGCGGGGGTATCCTGGATGTCAAGAACACCTGTTGGCATGAAGACTACAATAA___GTTCCGTGCCGGAATCAAGGACCTGGAGGTGATGACCCAGAACCTGATCACCTCAGCCTTCGAGTTGGTGCGGGACGTGCCGCACGGCGTGCTTCTGCTGGACACCTTCCACAGGCTTGCCTCCCGCGAG___GCTATCAAGCGGACTTATGACAAGAAGGCGGTGGATCTCTACATGCTGTTCAATAGCGAGCTGGCCCTGGTGAACCGTGAACGGAACAAGAAATGGCCAGACCTGGAGCCCTACGTGGCCCAGTATTCCGGAAAGGCGCGCTGGGTGCACATCCTCCGGCGTCGCATCGACAGAGTCATGACC___TGCCTTGCTGGTGCTCATTTCCTGCCCCGTATTGGGACTGGAAAGGAGAGTGTGCACACCTATCAGCAGATGGTCCAGGCCATTGATGAGCTGGTTCGAAAAACCTTCCAAGAGTGGACATCAAGTCTGGACAAGGATTGCATTCGGCGGTTGGATACCCCATTGCTGCGAATCAGCCAGGAGAAGGCGGGCATGCTGGATGTCAACTTTGACAA___GTCCCTTCTGATTCTCTTTGCGGAAATTGACTACTGGGAGCGGCTGCTGTTTGAGACGCCCCATTACGTGGTGAACGTAGCTGAGCGAGCCGAGGACCTGCGCATTCTGCGTGAAAATCTGCTACTCGTTGCTAGAGACTACAATAG___GATTATTGCCATGCTGTCCCCAGATGAGCAGGCCCTATTCAAAGAGCGTATTCGGCTCCTGGATAAGAAGATCCACCCGGGACTCAAGAAACTGCACTGGGCCTTGAAGGGGGCCAGTGCCTTCTTCATCACGGAGTGCCGTATACATGCCAGCAAG___GTGCAGATGATTGTGAATGAGTTCAAGGCATCCACTCTGACCATTGGCTGGCGAGCCCAAGAGATGTCAGAGAAGCTGCTGGTACGCATTAGTGGCAAACGGGTATACAGGGACCTGGAATTTGAAGAGGACCAAAGAGAGCATCGGGCAGCTGTACAGCAGAAATTGATGAACCTGCACCAGGATGTGGTGACCATCATGACCAACTCCTATGAGGTCTTCAAGAATGATGGTCCTGAG___ATTCAGCAGCAGTGGATGCTGTACATGATTCGGCTGGACCGCATGATGGAGGATGCCCTGCGCCTGAATGTGAAGTGGTCACTGCTAGAACTATCCAAGGCTATCAACGGGGATGGAAAGACCAGCCCAAACCCACTCTTCCAAGTCCTTGTCATTTTGAAGAATGATCTGCAAGGAAGTGTGGCACAG___GTGGAATTCTCACCCACTCTGCAGACTTTGGCAGGTGTGGTCA)ATGACATTGGCAACCACCTCTTTTCCACCATCTCTGTCTTCTGCCACCTCCCTGACATTCTCACCAAGCGCAAGTTACATCGTGAACCCATCCAAACAGTTGTGG___AGCAAGATGAGGACATCAAGAAGATCCAGACCCAAATCAGCAGCGGCATGACTAACAACGCAAGCCTGCTGCAGAACTACCTCAAGACCTGGGACAcGTACCGGGAGATCTGGGAGATCAACAAGGACTCCTTCATTCATCGCTACCAGCGCCTCAACCCTCCTGTCTCTTCTTTTGTTGCCGACATTGCCCG|AATTCAACGATGTCAAGAGCCTGGACACTGGCTGGGGTCAAGGTCCCACCGCCATCTGGCGATCTCCTCCAGCCCACTGGTATCATAAGAAAGTGAAAATATATTTACTATTCACCAAGCGCAAGTGGATCATCACAAAGATCTTCATCCATATCTTCACATTGAGTAGGCTGAGGAGGAAGAGGAGGAAGAAGAGGGGTTGATCTTGCTGTCTTAGGGTGGCAGAGGCAGAAGAAAATCCACATATAGCTGGGC MSSKAEKKQRLSGRGSSQASWSGRATRAAVATQEQGNAPAVSEPELQAELPKEEPEPRLEGPQAQSEESVEPEADVKPLFLSRAALTGLADAVWTQEHDAILEHFAQDPTESILTIFIDPCFGLKLELGMPVQTQNQLVYFIRQAPVPITWENFEATVQFGTVRGPYIPALLRLLGGVFAPQIFANTGWPESIRNHFASHLHKFLACLTDTRYKLEGHTVLYIPAEAMNMKPEMVIKDKELVQRLETSMIHWTRQIKEMLSAQETVETGENLGPLEEIEFWRNRCMDLSGISKQLVKKGVKHVESILHLAKSSYLAPFMKLAQQIQDGSRQAQSNLTFLSILKEPYQELAFMKPKDISSKLPKLISLIRIIWVNSPHYNTRERLTSLFRKVCDCQYHFARWEDGKQGPLPCFFGAQGPQITRNLLEIEDIFHKNLHTLRAVRGGILDVKNTCWHEDYNKFRAGIKDLEVMTQNLITSAFELVRDVPHGVLLLDTFHRLASREAIKRTYDKKAVDLYMLFNSELALVNRERNKKWPDLEPYVAQYSGKARWVHILRRRIDRVMTCLAGAHFLPRIGTGKESVHTYQQMVQAIDELVRKTFQEWTSSLDKDCIRRLDTPLLRISQEKAGMLDVNFDKSLLILFAEIDYWERLLFETPHYVVNVAERAEDLRILRENLLLVARDYNRIIAMLSPDEQALFKERIRLLDKKIHPGLKKLHWALKGASAFFITECRIHASKVQMIVNEFKASTLTIGWRAQEMSEKLLVRISGKRVYRDLEFEEDQREHRAAVQQKLMNLHQDVVTIMTNSYEVFKNDGPEIQQQWMLYMIRLDRMMEDALRLNVKWSLLELSKAINGDGKTSPNPLFQVLVILKNDLQGSVAQVEFSPTLQTLAGVVNDIGNHLFSTISVFCHLPDILTKRKLHREPIQTVVEQDEDIKKIQTQISSGMTNNASLLQNYLKTWDtYREIWEINKDSFIHRYQRLNPPVSSFVADIAr|iqrcqepghwlgsrshrhlaisssplvs* 01BR042 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 21 6 0 124 66 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(4),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGA)AAGAGtACAACCACCACGTTTTGCTCAAgCTGGtACAaaTGAATTTGAGTATGCATCTCGATGGAAGGCTaaTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAAC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKERvQPPRFAQaGTnEFEYASRWKAnDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR042 ENSG00000052126.14 ENSG00000206662.1(274325),ENSG00000111404.6(95498) +/+ ./+ chr12:19132450 chr12:17985371 CDS/splice-site intergenic duplication 14 10 0 100 53 high out-of-frame . WW_domain(100%)| . . ENSG00000052126.14 . ENST00000540972.5 . downstream upstream duplicates(2) ^(GCCGCG)GCGGCAGCAGGAGAAGGCGGCGGCGGCGGCTAGGGATCAGACATGGCGGCGGATCTGAACCTGGAGTGGATCTCCCTGCCCCGGTCCTGGACTTACGGGATCACCAGGGGCGGCCGAGTCTTCTTCATCAA___CGAGGAGGCCAAGAGCACCACCTGGCTGCACCCCGTCACCGGCGAGGCGGTGGTCACCGGACACCGGCGGCAGAGCACAG___ATTTGCCTACTGGCTGGGAAGAAGCATATACTTTTGAAGGTGCAAGATACTATATAAA|GTACTGTTCTAGATACAGGGGATAAGGCAGTGGATGTATACACCAGAAACTCTACCTTTATTCAGTTATAAAGGAGGTTATAAATGG___CTAACAGAACCTGCTCTATTGGATGCAGAAAGTTATTTGATAGAAGAAACGAAGTGCTAACAAGATCATTGGAAGTTCCGGAAAAGGAGACTGTTGATTGGGCCTACTTGAATAATTTCAAAATCACATCACAGAATTGACCACTACTCTGCCTCTGACAAAATCAGGAAACTAAAGCAGGATGCTGCTCTCCCAC MAADLNLEWISLPRSWTYGITRGGRVFFINEEAKSTTWLHPVTGEAVVTGHRRQSTDLPTGWEEAYTFEGARYYIk|ycsryrg* 01BR042 ENSG00000134780.10 ENSG00000121691.7 +/+ +/+ chr11:61680504 chr11:34456011 5'UTR/splice-site CDS/splice-site duplication 3 13 0 13 165 high . . |Catalase(100%),Catalase-related_immune-responsive(100%) . . ENSG00000134780.10 ENSG00000121691.7 ENST00000257215.10 ENST00000241052.5 downstream upstream duplicates(2) ^CTTCGCGCCGGCGCCGGCGCCCTGCGGAAGCGGCGTTAGTGAATCGGGGCCTTGGGGAGCCCAGGATGGAGGTGGCGGTCGCGGCGGCGGGCCGAGCCCTGCGGCGGGCGGGAG|ACTGACCAGGGCATCAAAAACCTTTCTGTTGAAGATGCGGCGAGACTTTCCCAGGAAGATCCTGACTATGGCATCCGGGATCTTTTTAACGCCATTGCCACAGGAAAGTACCCCTCCTGGACTTTTTACATCCAGGTCATGACATTTAATCAGGCAGAAACTTTTCCATTTAATCCATTCGATCTCACCAAG___GTTTGGCCTCACAAGGACTACCCTCTCATCCCAGTTGGTAAACTGGTCTTAAACCGGAATCCA(GTTAATTACTTTGCTGAGGTTGAACAGATAGCCTTCGACCCAAGCAACATGCCACCTGGCATTGAGGCCAGTCCTGACAAAATGCTTCAG___GGCCGCCTTTTTGCCTATCCTGACACTCACCGCCATCGCCTGGGACCCAATTATCTTCATATACCTGTGAACTGTCCCTACCGTGCTCGAGTGGCCAACTACCAGCGTGACGGCCCGATGTGCATGCAGGACAATCAGG___GTGGTGCTCCAAATTACTACCCCAACAGCTTTGGTGCTCCGGAACAACAGCCTTCTGCCCTGGAGCACAGCATCCAATATTCTGGAGAAGTGCGGAGATTCAACACTGCCAATGATGATAACGTTACTCAG___GTGCGGGCATTCTATGTGAACGTGCTGAATGAGGAACAGAGGAAACGTCTGTGTGAGAACATTGCCGGCCACCTGAAGGATGCACAAATTTTCATCCAGAAGAAAGCG___GTCAAGAACTTCACTGAGGTCCACCCTGACTACGGGAGCCACATCCAGGCTCTTCTGGACAAGTACAATGCTGAGAAGCCTAAG___AATGCGATTCACACCTTTGTGCAGTCCGGATCTCACTTGGCGGCAAGGGAGAAGGCAAATCTGTGAGGCCGGGGCCCTGCACCTGTGCAGCGAAGCTTAGCGTTCATCCGTGTAACCCGCTCATCACTGGATGAAGATTCTCCTGTGCTAGATGTGCAAATGCAAGCTAGTGGCTTCAAAATAGAGAATCCCACTTTCTATAGCAGATTGTGTAACAATTTTAATGCTATTTCCCCAGGGGAAAATGAAGGTTAGGATTTAACAGTCATTTAAAAAAAAAATTTGTTTTGACGGATGATTGGATTATTCATTTAAAATGATTAGAAGGCAAGTTTCTAGCTAGAAATATGATTTTATTTGACAAAATTTGTTGAAATTATGTATGTTTACATATCACCTCATGGCCTATTATATTAAAATATGGCTATAAATATATAAAAAGAAAAGATAAAGATGATCTACTCAGAAATTTTTATTTTTCTAAGGTTCTCATAGGAAAAGTACATTTAATACAGCAGTGTCATCAGAAGATAACTTGAGCACCGTCATGGCTTAATGTTTATTCCTGATAATAATTGATCAAATTCATTTTTTTCACTGGAGTTACATTAATGTTAATTCAGCACTGATTTCACAACAGATCAATTTGTAATTGCTTACATTTTTACAATAAATAATCTGTACGTAAGAACA)$ . 01BR042 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 11 0 27 23 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2),mismappers(1) GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCAC(CCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 01BR042 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 9 6 0 22 27 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream duplicates(3) GCGGGGGCCGGGCTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG(___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 01BR042 ENSG00000134755.17 ENSG00000153391.15(63841),ENSG00000283514.1(29905) -/- ./- chr18:31079847 chr18:35561832 CDS/splice-site intergenic duplication 7 6 0 320 15 high out-of-frame . Cadherin_domain(100%),Cadherin_prodomain_like(100%)| . . ENSG00000134755.17 . ENST00000280904.11 . upstream downstream duplicates(4) ^(AGTCAGGGCTTCTGCTGGGCAGGGCCGGCTGTTAATCTCGCCTGGCGGAGCGGACACCGGGGCGTGGTGGGGGAGATGGGCCTTATAGGTGGCGTCCGCTGGTGAGAAACACCTTGCGCAGGTAAAAGGGTGGCGGCGAGAGGGAGTTCCCACCCGTGGCTTTCTTAGAGAAATGAAGTCTTAAGTCTTAAATAGACAACAAGGAGGGGCCGATCGGTGTCTTTTGGACGCGTCTGGAGCCCCTCCCTCCGCCAAAGGAAAAGCCCCTTGGATGAGAGGCAGGCGCTTCAGAGAAGCTAAGAAAAGCACCTCTCCGCGCGCCCCACCTCCTCCGCCTCGCGCTCCTCCTGAGCAGCGGGCCCAGACTGCGCTCCGGCCGCGGCCCTCGCCCCGCGGAGCCCTCCTACCCCGGCCCGACGCTCGGCCCGCGACCTGCCCCGAGCCCTCTCCATGGAGGCAGCCCGCCCCTCCGGCTCCTGGAACGGAGCCCTCTGCCGGCTGCTCCTGCTGACCCTCGCG___ATCTTAATATTTGCCAGTGATGCCTGCAAAAATGTGACATTACATGTTCCCTCCAAACTAGATGCCGAGAAACTTGTTGGTAGAG___TTAACCTGAAAGAGTGCTTTACAGCTGCAAATCTAATTCATTCAAGTGATCCTGACTTCCAAATTTTGGAGGATGGTTCAGTCTATACAACAAATACTATTCTATTGTCCTCGGAGAAGAGAAGTTTTACCATATTACTTTCCAACACTGAGAACCAAGAAAAGAAGAAAATATTTGTCTTTTTGGAGCATCAAACAAAG___GTCCTAAAGAAAAGACATACTAAAGAAAAAGTTCTAAGGCGCGCCAAGAGAAGATGGGCTCCAATTCCTTGTTCGATGCTAGAAAACTCCTTGGGTCCTTTTCCACTTTTCCTTCAACAG___GTTCAATCTGACACGGCCCAAAACTATACCATATACTATTCCATAAGAGGTCCTGGAGTTGACCAAGAACCTCGGAATTTATTTTATGTGGAGAGAGACACTGGAAACTTGTATTGTACTCGTCCTGTAGATCGTGAGCAGTATGAATCTTTTGAG___ATAATTGCCTTTGCAACAACTCCAGATGGGTATACTCCAGAACTTCCACTGCCCCTAATAATCAAAATAGAGGATGAAAATGATAACTACCCAATTTTTACAGAAGAAACTTATACTTTTACAATTTTTGAAAATTGCAGAGTGG___GCACTACTGTGGGACAAGTGTGTGCTACTGACAAAGATGAGCCTGACACGATGCACACACGCCTGAAGTACTCCATCATTGGGCAGGTGCCACCATCACCCACCCTATTTTCTATGCATCCAACTACAGGCGTGATCACCACAACATCATCTCAGCTAGACAGAGAG___TTAATTGACAAGTACCAGTTGAAAATAAAAGTACAAGACATGGATGGTCAGTATTTTGGTCTACAGACAACTTCAACTTGTATCATTAACATTGATGATGTAAATGACCACTTGCCAACATTTACTCGTACTTCT___TATGTGACATCAGTGGAAGAAAATACAGTTGATGTGGAAATCTTACGAGTTACTGTTGAGGATAAGGACTTAGTGAATACTGCTAACTGGAGAGCTAATTATACCATTTTAAAGGGCAATGAAAATGGCAATTTTAAAATTGTAACAGATGCCAAAACCAATGAAGGAGTTCTTTGTGTAGTTAAG___CCTTTGAATTATGAAGAAAAGCAACAGATGATCTTGCAAATTGGTGTAGTTAATGAAGCTCCATTTTCCAGAGAGGCTAGTCCAAGATCAGCCATGAGCACAGCAACAGTTACTGTTAATGTAGAAGATCAGGATGAGGGCCCTGAGTGTAACCCTCCAATACAGACTGTTCGCATGAAAGAAAATGCAGAAGTGG)GAACAACAAGCAATGGATATAAAGCATATGACCCAGAAACAAGAAGTAGCAGTGGCATAAG___GTATAAGAAATTAACTGATCCAACAGGGTGGGTCACCATTGATGAAAATACAGGATCAATCAAAGTTTTCAGAAGCCTGGATAGAGAGGCAGAGACCATCAAAAATGGCATATATAATATTACAGTCCTTGCATCAGACCAAG|AGATGGGATCTCTCTATGTTACCTATGCTGACCATGAAGTCCTGGACTGAAGTGATCCTTCCACCTCGGCTTCCTCAAGTGCTGGAATTACAGGTGTGAGCCACCATGCCTGGCCTGGTTGATTTTTGTTTTGGTGCTGTGGGAGGAATGCCTGCCTTGGAGGAAAGAAAGATCTGC MEAARPSGSWNGALCRLLLLTLAILIFASDACKNVTLHVPSKLDAEKLVGRVNLKECFTAANLIHSSDPDFQILEDGSVYTTNTILLSSEKRSFTILLSNTENQEKKKIFVFLEHQTKVLKKRHTKEKVLRRAKRRWAPIPCSMLENSLGPFPLFLQQVQSDTAQNYTIYYSIRGPGVDQEPRNLFYVERDTGNLYCTRPVDREQYESFEIIAFATTPDGYTPELPLPLIIKIEDENDNYPIFTEETYTFTIFENCRVGTTVGQVCATDKDEPDTMHTRLKYSIIGQVPPSPTLFSMHPTTGVITTTSSQLDRELIDKYQLKIKVQDMDGQYFGLQTTSTCIINIDDVNDHLPTFTRTSYVTSVEENTVDVEILRVTVEDKDLVNTANWRANYTILKGNENGNFKIVTDAKTNEGVLCVVKPLNYEEKQQMILQIGVVNEAPFSREASPRSAMSTATVTVNVEDQDEGPECNPPIQTVRMKENAEVGTTSNGYKAYDPETRSSSGIRYKKLTDPTGWVTIDENTGSIKVFRSLDREAETIKNGIYNITVLASDQ|emgslyvtyadhevld* 01BR042 ENSG00000158769.18 ENSG00000143217.9 -/- -/- chr1:161021010 chr1:161079949 CDS/splice-site CDS/splice-site duplication 6 7 0 943 203 high in-frame . |CD80-like_C2-set_immunoglobulin_domain_(100%),Immunoglobulin_V-set_domain(100%),Immunoglobulin_domain(100%) . . ENSG00000158769.18 ENSG00000143217.9 ENST00000621309.4 ENST00000368012.4 upstream downstream duplicates(3) ^(GAGGCAGCTCCTGTGGGGAAAGGCGCCAGTGCGCCGAGGCGGGGAGTGGCGGCGGGGTAACACCTGGCCGAGGTGACTCGTTCTGAAGAGCAGCGGTTCCTTACACCAATCGGAACGTGCAGGGGTGGGGAGCTGGCCAATCAGGCGCGGAGGGCGGGGCCGGGCGGGGTTCCACCTGGCGGCTGGCTCTCAGTCCCCTCGCTGTA)GTCGCGGAGCTGTGTCTGTTCCCAGGAGTCCTTCGGCGGCTGTTGTGTCaGtgGCCTGATCGCGATGGGGACAAAGGCGCAAGTCGAGAGGAAACTGTTGTGCCTCTTCATATTGGCGATCCTGTTGT|GCCGGTGCCCCGCGGGTGAGCTGGAGACCTCAGACGTGGTAACTGTGGTGCTGGGCCAGGACGCAAAACTGCCCTGCTTCTACCGAGGGGACTCCGGCGAGCAAGTGGGGCAAGTGGCATGGGCTCGGGTGGACGCGGGCGAAGGCGCCCAGGAACTAGCGCTACTGCACTC(CAAATACGGGCTTCATGTGAGCCCGGCTTACGAGGGCCGCGTGGAGCAGCCGCCGCCCCCACGCAACCCCCTGGACGGCTCAGTGCTCCTGCGCAACGCAGTGCAGGCGGATGAGGGCGAGTACGAGTGCCGGGTCAGCACCTTCCCCGCCGGCAGCTTCCAGGCGCGGCTGCGGCTCCGAGTGCTGG___TGCCTCCCCTGCCCTCACTGAATCCTGGTCCAGCACTAGAAGAGGGCCAGGGCCTGACCCTGGCAGCCTCCTGCACAGCTGAGGGCAGCCCAGCCCCCAGCGTGACCTGGGACACGGAGGTCAAAGGCACAACGTCCAGCCGTTCCTTCAAGCACTCCCGCTCTGCTGCCGTCACCTCAGAGTTCCACTTGGTGCCTAGCCGCAGCATGAATGGGCAGCCACTGACTTGTGTGGTGTCCCATCCTGGCCTGCTCCAGGACCAAAGGATCACCCACATCCTCCACGTGTCCT___TCCTTGCTGAGGCCTCTGTGAGGGGCCTTGAAGACCAAAATCTGTGGCACATTGGCAGAGAAGGAGCTATGCTCAAGTGCCTGAGTGAAGGGCAGCCCCCTCCCTCATACAACTGGACACG___GCTGGATGGGCCTCTGCCCAGTGGGGTACGAGTGGATGGGGACACTTTGGGCTTTCCCCCACTGACCACTGAGCACAGCGGCATCTACGTCTGCCATGTCAGCAATGAGTTCTCCTCAAGGGATTCTCAGGTCACTGTGGATGTTCTTG___ACCCCCAGGAAGACTCTGGGAAGCAGGTGGACCTAGTGTCAGCCTCGGTGGTGGTGGTGGGTGTGATCGCCGCACTCTTGTTCTGCCTTCTGGTGGTGGTGGTGGTGCTCATGTCCCGATACCATCGGCGCAAGGCCCAGCAGATGACCCAGAAATA___TGAGGAGGAGCTGACCCTGACCAGGGAGAACTCCATCCGGAGGCTGCATTCCCATCACACGGACCCCAGGAGCCAG___CCGGAGGAGAGTGTAGGGCTGAGAGCCGAGGGCCACCCTGATAGTCTCAAGGACAACAGTAGCTGCTCTGTGATG___AGTGAAGAGCCCGAGGGCCGCAGTTACTCCACGCTGACCACGGTGAGGGAGATAGAAACACAGACTGAACTGCTGTCTCCAGGCTCTGGGCGGGCCGAGGAGGAGGAAGATCAGGATGAAGGCATCAAACAGGCCATGAACCATTTTGTTCAGGAGAATGGGACCCTACGGGCCAAGCCCACGGGCAATGGCATCTACATCAATGGGCGGGGACACCTGGTCTGACCCAGGCCTGCCTCCCTTCCCTAGGCCTGGCTCCTTCTGTTGACATGGGAGATTTTAGCTCATCTTGGGGGCCTCCTTAAACACCCCCATTTCTTGCGGAAGATGCTCCCCATCCCACTGACTGCTTGACCTTTACCTCCAACCCTTCTGTTCATCGGGAGGGCTCCACCAATTGAGTCTCTCCCACCATGCATGCAGGTCACTGTGTGTGTGCATGTGTGCCTGTGTGAGTGTTGACTGACTGTGTGTGTGTGGAGGGGTGACTGTCCGTGGAGGGGTGACTGTGTCCGTGGTGTGTATTATGCTGTCATATCAGAGTCAAGTGAACTGTGGTGTATGTGCCACGGGATTTGAGTGGTTGCGTGGGCAACACTGTCAGGGTTTGGCGTGTGTGTCATGTGGCTGTGTGTGACCTCTGCCTGAAAAAGCAGGTATTTTCTCAGACCCCAGAGCAGTATTAATGATGCAGAGGTTGGAGGAGAGAGGTGGAGACTGTGGCTCAGACCCAGGTGTGCGGGCATAGCTGGAGCTGGAATCTGCCTCCGGTGTGAGGGAACCTGTCTCCTACCACTTCGGAGCCATGGGGGCAAGTGTGAAGCAGCCAGTCCCTGGGTCAGCCAGAGGCTTGAACTGTTACAGAAGCCCTCTGCCCTCTGGTGGCCTCTGGGCCTGCTGCATGTACATATTTTCTGTAAATATACATGCGCCGGGAGCTTCTTGCAGGAATACTGCTCCGAATCACTTTTAATTTTTTTCTTTTTTTTTTCTTGCCCTTTCCATTAGTTGTATTTTTTATTTATTTTTATTTTTATTTTTTTTTAGAGATGGAGTCTCACTATGTTGCTCAGGCTGGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTTTAAGTGTACACCACTGTGCCTGCTTTGAATCCTTTACGAAGAGAAAAAAAAAATTAAAGAAAGCCTTTAGATTTATCCAATGTTTACTACTGGGATTGCTTAAAGTGAGGCCCCTCCAACACCAGGGGGTTAATTCCTGTGATTGTGAAAGGGGCTACTTCCAAGGCATCTTCATGCAGGCAGCCCCTTGGGAGGGCACCTGAGAGCTGGTAGAGTCTGAAATTAGGGATGTGAGCCTCGTGGTTACTGAGTAAGGTAAAATTGCATCCACCATTGTTTGTGATACCTTAGGGAATTGCTTGGACCTGGTGACAAGGGCTCCTGTTCAATAGTGGTGTTGGGGAGAGAGAGAGCAGTGATTATAGACCGAGAGAGTAGGAGTTGAGGTGAGGTGAAGGAGGTGCTGGGGGTGAGAATGTCGCCTTTCCCCCTGGGTTTTGGATCACTAATTCAAGGCTCTTCTGGATGTTTCTCTGGGTTGGGGCTGGAGTTCAATGAGGTTTATTTTTAGCTGGCCCACCCAGATACACTCAGCCAGAATACCTAGATTTAGTACCCAAACTCTTCTTAGTCTGAAATCTGCTGGATTTCTGGCCTAAGGGAGAGGCTCCCATCCTTCGTTCCCCAGCCAGCCTAGGACTTCGAATGTGGAGCCTGAAGATCTAAGATCCTAACATGTACATTTTATGTAAATATGTGCATATTTGTACATAAAATGATATTCTGTTTTTAAATAAACAGACAAAACTTG)$ MGTKAQVERKLLCLFILAILL|cRCPAGELETSDVVTVVLGQDAKLPCFYRGDSGEQVGQVAWARVDAGEGAQELALLHSKYGLHVSPAYEGRVEQPPPPRNPLDGSVLLRNAVQADEGEYECRVSTFPAGSFQARLRLRVLVPPLPSLNPGPALEEGQGLTLAASCTAEGSPAPSVTWDTEVKGTTSSRSFKHSRSAAVTSEFHLVPSRSMNGQPLTCVVSHPGLLQDQRITHILHVSFLAEASVRGLEDQNLWHIGREGAMLKCLSEGQPPPSYNWTRLDGPLPSGVRVDGDTLGFPPLTTEHSGIYVCHVSNEFSSRDSQVTVDVLDPQEDSGKQVDLVSASVVVVGVIAALLFCLLVVVVVLMSRYHRRKAQQMTQKYEEELTLTRENSIRRLHSHHTDPRSQPEESVGLRAEGHPDSLKDNSSCSVMSEEPEGRSYSTLTTVREIETQTELLSPGSGRAEEEEDQDEGIKQAMNHFVQENGTLRAKPTGNGIYINGRGHLV* 01BR042 ENSG00000197329.12 ENSG00000225889.8(23730),ENSG00000238012.2(53898) -/- ./- chr2:64144081 chr2:64276583 5'UTR/splice-site intergenic duplication 8 4 0 279 36 high . . . . . ENSG00000197329.12 . ENST00000358912.5 . upstream downstream duplicates(1) ^(AGTGACCCAGAGGCGGTGTGAGGCGGAGGGACCGTCGGGGGG)CGCCGCCGCCGCCTCCACTAGCAGCAGCGGCAGCAGCCCTAGTCCCGCGGTGCGGTCGAATTGGTCCCCAGCCCTCCGGGAGCGCACCACAAAGCAGCCCCAACGCCTCTCCCTGCGTCCGCGGCTCCTCAGCGCTCGGCTCCGTGGTCAACTTCCCCTCGCTGGGCTCGGCTGGCGGGCGCGGAGGGCAGCGGCGGAACGGCGGGCTGTCTGCTCGCGCTCCCCGCGCACAACACTTCACCCTCTCGCCTCGGGTCTCGGGGGCCGCTCTGGGATCCCGGCCACCAGCAATTGTCCG|GTGTGCCAGCAGCCCACCTTCCAGAGCCTACCTTCACGCCTCACAAGGAAACAGCTTGGAAAGGACTGGGGCATACCAACATGTTTACGGAATCAGCCTTTGGCATTGGAATAGATCCAGTTTCAAATCTCTAGGCCACTCCATCATTTAACGGATAGAGGTTGGCCAGGCGCAGTGGC . 01BR042 ENSG00000186566.13 ENSG00000262587.2 -/- +/+ chr17:44503326 chr16:25058016 CDS/splice-site exon/splice-site translocation 1 9 0 3 22 high out-of-frame . G-patch_domain(100%)| . . ENSG00000186566.13 ENSG00000262587.2 ENST00000591680.6 ENST00000575694.1 upstream upstream duplicates(1) ^GGAGAGCGTCGTCCTGAGAGGAGTGAAGGCGGCAAAATGGCGGACCGCTTCTCCCGCTTCAACGAAGACCGAGACTTTCAG|GCTTGCAGTAAGGTTGGGCTGCTGGCACGACCCTTACATCCACCACTTTGTGAGACTGTCTAAAGACAGGAAAGTCCCTGAAATCAACAGAG MADRFSRFNEDRDFQ|acskvgllarplhpplcetv* 01BR042 ENSG00000135373.12 ENSG00000243742.5 +/+ +/+ chr11:34621228 chr11:61624985 5'UTR/splice-site exon/splice-site deletion 5 3 0 49 51 high . . . . . ENSG00000135373.12 ENSG00000243742.5 ENST00000257831.7 ENST00000496593.5 downstream upstream . ^ACTTGATAACACCCGTGGTGCCCCATCCCTATAGGAGCTGGTGAGATTGCAGCCTGCTGCCTCCCCTCCAtCAGCCACAGCTATTGGATTTCCCACCCAGAATCTTTAGGTAAATGAG|GAGTGTCAGCCGTGACCCTTATGATGGATGAGAAGAGGTATCATGCCTTTTCCACCCCTACACCTGGAAGGAAGGTTCTGCAGCgAGTTCATGAGAGACGATATGTGGAATGTAATCAGAGCATACCTCTTAATACTTAAAAG___GAAAAAACGATCAACGAACCTTCATTTAAGAAAAAGCACAGCGTTCTCATGGGAACCAAGAAGACAAGCCCTTAATGCAAAGTGTATTCAGAGAGAAGAAAACAAGAAAAGCAG(AGACGATTGGATTACAGCAATTGCTCTTATAACTCCTCTCCGCCCACCCCCTCGATGAGAAGCTGGTTTGAAGGACTGAGTATCAAATCCCTACTGAGCTCTGAGGTTCCAG___GCAGCGTAGAAAACAATGCCTGCCTTTTGCCAGGCATCCTCATGGAAGTGACATCGTCTTTAAACCTGTGTGGCAATCCCTGACGCACCACCGTGATGCCCAGGGAAGACAGGGTGACCTGGAAACCCAACTACTTCCTTAAGATCATCCAGCTATTGGATGATTATCTGAAATGTTTCATCGTGGGAGCAGACAATGTGAACTCCAAGCAGATGCAGCAGATCCGCATGTCCCTCTGCGGCAAGGCCGTGGTGCTGATGGGCAAGAACGCCATGACGCGCAAGGCCATCCGAGGGCACCTGGAAAACAGCCCAGCTCTGGAGAAACTGCTGCCTCGCATCTGGGAGAATGTGGGCTTTGTGTTCACCAAGGAGGACCTCACTGAGATCAGGGACCTGCTGCTGGCCAATAAGGTGCCAGCTGCCACCCGTGCTGGTGCCATTACCCCATGTGAAGTCACTGTGCCAGCCCAGAATACTGGTCTGGACCCCGAGAAGACCTCCTTTTTCCAGGCTTTAGGTATCATCACTAAAATCTCCAGGGGCGCCATTGAAATCCTGAGTGATGCGCAGCTGATCAAGACGGGAGACAAAGTGGGAGCCAGTGAAGCCACGCTGCTGACCATGCTCAACATCTCCCCCTTCTCCTCTGGGCTGGTCATCCAGCAGGTGTTCGACAACGGCAGCATCTACAACCCTGAAGTGCTTGACATCACAGAGGAAACTCTGTATTCTCGCTTCCTGGAGGGTGTCCGCAATGTTGCCGGTGTCTGTCCGCAGATCCACTACCCAACTGTTGCATCAGTGCCCCATTCTATCATCGACGGGTACAAACGAGTCCTGGCCTTGTCTGTGGAGACTGATGACAACTTCCTGCTTGCTGAAAAGGTCAAGGCCTTCTTGGCTGATCCATCTGCCTTTGTGGCTGCAGCCCCTGTGGCTGCTGCCACCACAGCTGCTCCTGCTGCTGCTGCTGCAGCCCCAGCTAAGGATGAAGCCAAGGAAGAGTCGGAGGGAGGAGTCAGACGAGGATATGGGATTGGGTCTCTTTGACTAATCACCAAAAAGCAACCAACTTAGCCAGCTTTATTTGCAAAACAAGGAAATAAAGGCTTACTTCTTTAAAAAAAAAAAAAGAAAAGAAAAAAAGAAGAAAGAAAGAAACAAAGAAAGAAAGAAAGAGAAAGAAAGAAAAGAAAAAAAAAATAAAACAACACTTGCTCCCACGGTTGTGACAGTGGGGTTTAAAGAAAACCAGCAGGCGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGACCACGAGGTCAGGAGATCGAGACCATCCTGGCTAGCACTGTGAAACCCCATCTGTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCATCTGTAGTCCCAGCTGCTCGGGAGGCTCAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGTAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACTGAGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAAAGAAAAAGAAAAAGAAAAGGAGTAGGCAGAAAGAGCACACAGTAGGTGTTCAACCAGCGTGAAGCTCCCAGCCCCTGACAGTCCACGACAGCCTCAGAGCAGGCAGAAGGAGCACACAGTAGGTGTTCAGCCAGCGTGAAGCCCCCAGCCCCTGACAGGCTACGACAGCCTCAGAGCAGGCAGAAGGAGCACACAGTAGGCATCCAGCCCACATGAAGCAGGCCCCCAGCCCCTGACAGGCCATGACAGCCTGAGGCAGGACCACATGGTGATCTCTAACCTGACCCCAGGGGAGGACAGGAGGGAGGACGGATAGCACCCTGGGAGGCCAGGGCCTGGCGTCCCACCCTGTCACCCTCGTGCCCAGTGTCCAGGGGCTCCGAGTTAGCCATGGCCTGGCGCGTAGCCTTAGGAGAGACCCTCCAGCCATTCGGTGGAGCGTGGAGACCCCTCGTGGCCACACGGAGGACTGCAGCTCTCAGCGTGTGACCTCTCGCCAGCATCGGGGCTGCTCTGCATGTAGCCCTGGGAGAGCTCTGCAAACATTGCTTGAGCTCCTTTTTATTTTATTTTTATTTCTTGAGACAGGATCTCACTCTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACCGCAACCTCCGCCTCCAGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGCGCCGCCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGACGGGTTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGCTTGAGCTCCTTTAAAGGTGCCACGATTTATGCTTGGTGTTATGGACAAAGAAAGGAAGTGATTCCCATCCCAGAGAATCTACCACCGGGAGAGTTACAGAGGCTGGGCCGCCCTATATCTACCTCCCACCCCTGTATACATCCATATAGAAGAGAACTCAGGGTTCAATCAGGGGACCTAGAGCAAGACACCCATTTTCCCATGCCTTGCTCCCCATATTGGCCTTATGGGCGTGGTACCCTGTAAAGTACCTGGAATAGTCCAGAGCTCAAAAATTCTTATGATTATTAAAGGTATAAAAGGACAGGTAAATTGAGGCCAAGTGCAGTGGCTTATACCTGCAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATGGATTGATCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCCATCTCTAT)$ . 01BR042 ENSG00000173575.22 ENSG00000258527.1 +/+ +/+ chr15:92929091 chr15:92795567 CDS/splice-site exon duplication 2 6 0 58 43 high out-of-frame . . . . ENSG00000173575.22 ENSG00000258527.1 ENST00000394196.9 ENST00000557146.1 downstream upstream . ^(AGAGCTGGGAAGGAGGCTCTAGATGGCGGCTGTGCCTTAGAGAGAGCGCGCTCTGCTCCCTGCCTTTGCCTCACTTTACGCAACTTTCCCTAACTTTCGGGCAGCCTCAGGGGGCCCCCGTAGCCCCCTGCCTTTCCTAGGGACTTACTGGGGTCGATTCGAACCTTTTTTTGGGAGAAAAGCAGCTTTTAGGAGCTTTCTTTTCGTGCCTTGTTGGAAAGAAGCAGCCGTACTGAGAGCCCAGGTCGTTGTTTTTTCCAGCTTAGAAGCCATGGCGCACCTCCATTTTTGTGCGCTCTCCTAATGAGGTTTTTTTTCTTTCGGACCTGTTTTAGTATTAATTATTGCTTTATTTTTTTGACCAGTTAACATATTTGAGGGTTATTTTATTTATTTTTCGTTTTTTAACGGAGGATTTTGCCTTTATTTTTAATTATTTGGGATCTGATATTTTTCTACTAGTAGATAGGACTCTTGGTTTGGACATACTACATGGATCAG___TAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCCTTAATATTTAAGAATTAAAAGATGATGAGAAATAAGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAATGCATCGAG___TCACTCAGCCTCTGAAGAAGCTTCGGGTTCAGACTCAGGCAGTCAGTCGGAAAGTGAGCAGGGAAGTGATCCAGGAAGTGGACATGGCAGCGAGTCGAACAGCAGCTCTGAATCTTCTGAGAGTCAGTCGGAATCTGAGAGCGAATCAGCAGGTTCCAAATCCCAGCCAGTCCTCCCAGAAGCCAA)AGAGAAGCCAGCCTCTAAGAAGGAACGGATAGCTGATGTGAAGAAG___ATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAG___GCAAGTAGCGGGTCTGAGAGTGGGAGCCCAAAAAGAAGAGGCCAGAGGCAGCTGAAAAAACA|GAGCAGGGGGAGCATGGAGTTTGGACTTTGCTGAGCAACTGAAGTGGAGCGCAGAGCTTGCTCGCTTAGGAGAGGGCAGCATGGATGGCAAACAAGGGGGCATGGATGGGAGCAAGCCCAC(GGGGCCAAGAGACTCTCCTGACACCAGGCTTCTTTCAAACCCATTGATGGGTGATTCTGTGTCTGATTGGTCTCCTATGCCTGAAGCTGCAATCTACGGACATCAGCTGTCTCTGAGGAACCTCATCAGCCACGGGTGGCTTGTGAACATCATCATGGCAGATCATGTTTCCCCACTCCATGAAGCCTGTCTCAGAGGTCATCCCTCTCGTGTAAAGATTTTATTAAAGCATGGAGCTCAGGTGAATGGCGTGACAACAGACTGGCACACTCCACTGTTTAATGTTTGTATCAGCAGCAGCTGGGATTATGCTTCTGCAGCATGGAGCCAGCGTTCAACCTGAGAGTGATCTGGCATCCCCCGTCCATGAAGCTGCTAGGAGAGGCCACGTGGAGTGTGTCGACTCTCTTACAGCTTATAGGGGCAAAAATGACCATAACATCAGCCACGTGGGCACTTCACTGTATTTGGCTTGTGAAAACCAGCAGATAGCCTGTGTCAAGAAGCTTCTGGAGTCAGGAGCAGACCTGAACCCAGGGAGAGGTTCCCCACTTCATGCAGTGGCCTTCATGAAGGCCCTCATGAAGGATTCCCCACTTCATGCAGTGGCCAGGACAGCCAGTGAAGAGCTGGCCTGCCTGCTCATGGATTTTGGAGCAGACACCCAGGCCAAGAATGCTGAAGGCAAATGTCATGTGGAGCTGGTGCCTCCAGAGAGCCCTTTGATCCAGCTCTTCTTGGAGAGAGAAGGG)$ MMRNKDKSQEEDSSLHSNASSHSASEEASGSDSGSQSESEQGSDPGSGHGSESNSSSESSESQSESESESAGSKSQPVLPEAKEKPASKKERIADVKKMWEEYPDVYGVRRSNRSRQEPSRFNIKEEASSGSESGSPKRRGQRQLKKq|srgsmefglc* 01BR042 ENSG00000109911.19 ENSG00000270718.1(78444),ENSG00000139116.18(43905) +/+ ./+ chr11:31539783 chr12:39249324 CDS/splice-site intergenic translocation 1 6 0 110 8 high out-of-frame . PAXNEB_protein(100%)| . . ENSG00000109911.19 . ENST00000640961.2 . downstream upstream duplicates(1) ^(AACACTGGAGGCTCTAAGATGGCGGCAGTGGCAACCTGCGGTAGTGTTGCCGCGAGTACTGGGTCTGCAGTGGCGACAGCCAGCAAGAGCAACGTCACCAGTTTCCAGAGGAGGGGTCCTAGAGCCAGCGTGACCAACGACAGCGGCCCTCGACTGGTGTCCATTGCGGGCACGCGACCGTCGGTGCGGAATGGACAGCTGCTGGTATCAACCGGGCTCCCAGCCCTAGACCAGCTCTTAG___GTGGAGGTTTAGCCGTTGG)AACAGTTCTTCTAATTG___AGGAGGATAAATATAATATTTACTCACCTTTGCTCTTCAAGTATTTCCTGGCAGAAGGAATTGTCAATGGGCATACTTTGTTGGTTGCATCTGCTAAAGAGGATCCTGCCAACATTTTACAG|AAAGAATTCAGCTATTCAGCTTTTCACCACTGAATATGTTAGCTGTGGGCTTCTCATAAATGGCCATTATCATGTTGAG___GCACAGACTCCATGGTTTGCAGCATGGATCCTGACACTCAAACTGCCACTGCTTCCATGAAGAAATGGGCCTTAGCTCTTACCACCCCTATCAAAGGGATTCAGCGAGGTGCCAATATTTGTGTCACTAGCTTCCAATTCAAAGTCTGTTGCCTGTGG MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPALDQLLGGGLAVGTVLLIEEDKYNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQ|kefsysafhh* 01BR042 ENSG00000007062.11 ENSG00000248138.5 -/- +/- chr4:16075687 chr4:16439316 CDS/splice-site intron duplication/5'-5' 0 4 1 139 31 high out-of-frame . . . . ENSG00000007062.11 ENSG00000248138.5 ENST00000505450.5 . upstream downstream . ^(CTGCTGCACACTAAGGATCCAAATGATTGTTTTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTAAATTGCATTGGGATTAGGCAACAGAAGGGTCTAATGCGGCCGGGATGAGACAGGAGAGTTTTTAGGAGGGTAGCTGCATTCTAAGTAAGGGACTCTGCGGGGGGAAAAGAGGCGCAAGCGTTGCAAGAAGGGAGTGCAGGGGGTTGAGCAGGCACCTCTACAGGAAATGGATGCTGTCCAGGTGCTGGTGGGCGCCCCAGGGCTACGTGGCGAAGCAGCTCAGCCGGTCCAATCAGAGTGCGTCCAGGGCTCGGGTTTCGCGATCTTTAAGTGACTGAGGCAGATCCCCACGCGGCACCTGGCCATGCTCTCAGCTCTCCCGCCGCG___GGATGGTGCCTTGAGTGAATGACCCCCTTGGAGAACATTCTTCCGCATCCCTCGCCTCAAGCCAGCCTCAGACAGAAAACTGAAGATTCAGCAGATCCAGTGCTTCCTGCTCCTCTTCTGCCCAGGAACACGCTTGCCTTCCCCAAGGCTTCCAGAAGCTCTGAGGCAGGAGGCACCAAGTTCTACCTCATGTTTGGAGGATCTTGCTAGCTATGGCCCTCGTACTCGGCTCCCTGTTGCTGCTGGGGCTGTGCGGGAACTCCTTTTCAGGAGGGCAGCCTTCATCCACAGATG)CTCCTAAGGCTTGGAATTATGAATTGCCTGCAACAAATTATGAGACCCAAGACTCCCATAAAGCTGGACCCATTGGCATTCTCTTTGAACTAGTGCATATCTTTCTCTATGTGGTACAGCCGCGTGATTTCCCAGAAG|GGGCAACTGGAAGAACCAAAGAAAATGAGACTCACTCATATCTTGCTTTTACAGCTTGAACTACTCATATCAGACCTCATAAACACAAGTAATCTATTATATTCTCACCAGTTCTCACACCCACCCTTGGATTGCAATACAAATTCCATTTATATTCCTGACTCCTAAAACCAGAATGGACTCATGCTTCTGGATAGTTATAGCAAGGGTACCAGAAGCTGGCTGTCT MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPE|gatgrtkenethsylafta* 01BR042 ENSG00000215262.8 ENSG00000253665.1(1016),ENSG00000176907.5(24998) +/+ ./- chr8:36834868 chr8:40128484 CDS/splice-site intergenic inversion 3 1 0 5 3 high out-of-frame . Ion_transport_protein(100%)| . . ENSG00000215262.8 . ENST00000399881.8 . downstream downstream duplicates(1) ^(AAATGACCTGGCAATTCCGTCTACTGATGTCTCGAACATGTTTCAGACTAAGCTACGAAATGAAACTTGGGAAGACTTGCCAAAAATGTCCTGCACAACTGAGATCCAAGCAGCATTCATTCTCTCTTCCTTTGTGACCTTCTTCAGTGGACTCATCATCCTGTTGATCTTCAGGCTGATCTGGAGATCTGTTAAAAAATGGCAAATCATCAAGGGAACAGGAATTATCTTG___GAACTGTTCACATCAGGTACCATCGCTAGGAGCCATGTAAGAAGCCTCCACTTCCAGGGACAATTTCGTGATCATATAGAAATGTTGCTTTCAGCCCAGACCTTTGTGGGGCAAGTGTTG___GTGATCCTTGTCTTTGTACTAAGCATTGGGTCTCTTATAATCTATTTCATCAATTCTGCTGA___CCCTGTTGGAAGCTGTTCATCATATGAAGACAAAACCATTCCTATTGATTTGGTTTTCAATGCTTTCTTTAGTTTCTATTTTGGATTGAGG___TTTATGGCAGCTGATGACAAGATCAAGTTCTGGCTGGAGATGAATTCAATCGTAGACATCTTTACCATCCCACCAACCTTTATTTCTTATTATTTGAAGAGCAATTGGCTAG___GTTTAAGGTTCCTAAGAGCCTTGCGCCTGCTAGAACTCCCTCAAATCTTGCAAATTCTACGAGCCATCAAGACCAG___TAACTCAGTGAAGTTTTCCAAACTGCTGTCAATAATTCTCAGTACCTGGTTCACAGCTGCGGGATTCATTCACCTG___GTGGAAAATTCTGGTGATCCCTGGCTCAAAGGTAGAAATTCACAGAATATATCATATTTTGAGTCAATTTACCTGGTCATGGCAACAACGTCAACCGTTGGATTTGGAGATGTGGTAGCCAAGACATCCTTAGGACGGACCTTCATCATGTTCTTCACACTGGGGAGTTTG___ATATTATTTGCGAACTATATACCTGAAATGGTGGAACTGTTTGCTAACAAGAGGAAATACACCAGTTCCTATGAAGCACTCAAAGGAAAGAA___GTTTATTGTGGTCTGTGGAAACATCACTGTGGACAGTGTGACCGCTTTCCTGAGGAATTTCCTCCGCGACAAGTCAGGAGAGATCAACACTGAAATTGTTTTCCTGGGAGA___AACCCCTCCTTCTTTGGAACTTGAAACCATATTTAAATGCTACTTGGCCTACACAACGTTCATTTCTGGATCT)GCAATGAAGTGGGAGGATCTGAGGCGAGTTGCG___GTGGAATCTGCAGAGGCATGCCTGATTATAGCCAATCCTTTGTGCAGTGATTCCCATGCTGAAGATATTTCCAACATTATGAG|ATGATCCTTGAACATTTCCTCAAATCTCTTTTACCAaTACACACACACACTCACACACACGCACaCACACACACGTCTGTGAGATTTTGAATGGTAATG MFQTKLRNETWEDLPKMSCTTEIQAAFILSSFVTFFSGLIILLIFRLIWRSVKKWQIIKGTGIILELFTSGTIARSHVRSLHFQGQFRDHIEMLLSAQTFVGQVLVILVFVLSIGSLIIYFINSADPVGSCSSYEDKTIPIDLVFNAFFSFYFGLRFMAADDKIKFWLEMNSIVDIFTIPPTFISYYLKSNWLGLRFLRALRLLELPQILQILRAIKTSNSVKFSKLLSIILSTWFTAAGFIHLVENSGDPWLKGRNSQNISYFESIYLVMATTSTVGFGDVVAKTSLGRTFIMFFTLGSLILFANYIPEMVELFANKRKYTSSYEALKGKKFIVVCGNITVDSVTAFLRNFLRDKSGEINTEIVFLGETPPSLELETIFKCYLAYTTFISGSAMKWEDLRRVAVESAEACLIIANPLCSDSHAEDISNIMr|* 01BR042 ENSG00000149294.16 ENSG00000271584.2(62675),ENSG00000150750.8(3410) +/+ ./+ chr11:112961664 chr11:111242316 CDS/splice-site intergenic duplication 1 2 0 4 4 high out-of-frame . . . . ENSG00000149294.16 . ENST00000316851.11 . downstream upstream . ^(GCTGAGGCTGGGACTGTCACTCATTCTCCGATCAGCGCGTGAACGCAGCTCGGCTGCCGCTGGCAGGAAACAATTCTGCAAAAATAATCATACTCAGCCTGGCAATTGTCTGCCCCTAGGTCTGTCGCTCAGCCGCCGTCCACACTCGCTGCAGGGGGGGGGGC)ACAGgATTTACCGCGGCAAGAACATCCCTCCCAGCCAGCAGATTACAATGCTGCAAACTAAGGATCTCATCTGGACTTTGTTTTTCCTGGGAACTGCAG|GGTGCCCCAGACCATCATCAGACCTTGCTATGACCCAGCAACCTGCCTGATAACACAGGTACCAGGTTTTTGAATCCCTCAGCAACTGAAGCAAACAGCC MLQTKDLIWTLFFLGTA|gcprpssdlamtqqpa* 01BR042 ENSG00000064763.11 ENSG00000170558.9(155185),ENSG00000265994.2(306399) +/+ ./- chr12:29270638 chr18:28332315 CDS/splice-site intergenic translocation 1 2 0 103 3 high out-of-frame . Male_sterility_protein(100%)| . . ENSG00000064763.11 . ENST00000536681.8 . downstream downstream duplicates(1) ^(AGAGTGTCACGTTTGGGAGCCGAAAGACTGGAGCCGTTTCCTTGTGGCTGGAGCGCTTCCCGTAGCCTCGGGGAAGGAGCAGGATTTAGAGGACCACTAGTTGGACCCCATCCTCGTGCTGGAGGAACAG___GAACCTCTTTCAGGAGCTATAAAAGAAAGGGAGGAATCATGTCCACAATTGCAGCTTTCTATGGCGGCAAGTCCATTCTCATCACGGGGGCCACAGGCTTTCTGGGC)AAAGTGCTaATGGAGAAGCTGTTTCGCACCAGCCCAGACCTGAAAGTCATTTACATCCTTGTGAGGCCCAAGGCTGGCCAGACACTGCAGCAGAGGGTTTTCCAGATCCTAGACAGTAAG|GAGGATTTCCACGCCAGAGCAATGCACCAGAAAGAGACTCTGGATTGGAGAGAGGACAACTGTGCCTTTGGAAGTGGGAGAAAGGTTACGGTGAAAGAAGAGGTGGAGCTGAGAATCAGCATGACATCTCAAACCACAGAACAGTTTTAGGAAAAAG MSTIAAFYGGKSILITGATGFLGKVLMEKLFRTSPDLKVIYILVRPKAGQTLQQRVFQILDSK|edfharamhqketldwredncafgsgrkvtvkeevelrismtsqtteqf* 01BR042 ENSG00000011347.10 ENSG00000185220.12(15486),ENSG00000233084.2(1149) -/- ./- chr11:61580790 chr1:248935432 CDS/splice-site intergenic translocation 1 1 0 24 14 high out-of-frame . . . . ENSG00000011347.10 . ENST00000539008.6 . upstream downstream duplicates(1) ^(GCACACGCGGCGCGCAGGCCGGAGGGAGGCGGCTCGGCGCTGTTCGGCGGCGGCGGCAGCGTGCTCCGCGGGCGGGCGGGAGGGCTGGCGGGCGGCCCCCGCTCCCCGGCTCCGCGGCTAGGTGCAGCCCGCTCGGCCCCC)GCCCTCGGACCCGCCCCCGGGGGTCGCCCGGCCCCATGCCCAGCGGCGGCGGCGGAGCAGCGCGCGGCCGCGGGCGGCTCTGAGGAGCCCGGAGGGAACCGGCGACGAGGGGACCATGTACCGGGACCCGGAGGCGGCCAGCCCAG|ATATTATTTCCCCCGATGCTTTCCTGAAAGCTCCTGCAATCAACTACAGGTCAGAATGTTCGTCTCCAAGACAGGACTCCCTCTGAGACTCACAGAAAAGACTATGACAGGCACTCTGGTTATAGGCTTCTGATGATATTGCTTAAATAACTTTAAGACCATACACTTGACTCAGTTAAGGTCTCCAGAAGTCCGGTTGGGAAACTGATGGGTTCATGACACTG MYRDPEAASP|diispdaflkapainyrsecssprqdsl* 01BR042 ENSG00000052126.14 ENSG00000206662.1(332409),ENSG00000111404.6(37414) +/+ ./+ chr12:19132450 chr12:18043455 CDS/splice-site intergenic duplication 1 1 0 100 10 high out-of-frame . WW_domain(100%)| . . ENSG00000052126.14 . ENST00000429027.6 . downstream upstream . ^(GAGAAGGCGGCGGCGGCGGCTAGGGATCAGACATGGCGGCGGATCTGAACCTGGAGTGGATCTCCCTGCCCCGGTCCTGGACTTACGGGATCACCAGGGGCGGCCGAGTCTTCTTCATCAA___CGAGGAGGCCAAGA)GCACCACCTGGCTGCACCCCGTCACCGGCGAGGCGGTGGTCACCGGACACCGGCGGCAGAGCACAG___ATTTGCCTACTGGCTGGGAAGAAGCATATACTTTTGAAGGTGCAAGATACTATATAAA|GGTGACCCTCTGCTTCACCAGCATAGCAGTTATACTACCAGGATAAGGAAGAAAGTCTTTCATCAATGTTTAATAATGTACTCTTAAATAGCTTATTCTCATGCA...ACAGAGGGCCGAGAATTTGACAGCCAGAATACCAGCATCCCTCTCTCTTGTATAACTTGTTATGCCATTCAAAACGTACTTTCATTGATTCTCACCTTATGGCCCATAACTCTCTTGAGGTATAAGAAAAAAATTATAAAAATGAGTGGA MAADLNLEWISLPRSWTYGITRGGRVFFINEEAKSTTWLHPVTGEAVVTGHRRQSTDLPTGWEEAYTFEGARYYIk|vtlcftsiavilpg* 01BR042 ENSG00000149179.14 ENSG00000253363.7 +/+ -/+ chr11:46987310 chr8:36506259 CDS/splice-site intron translocation/5'-5' 1 1 0 78 3 high stop-codon . . . . ENSG00000149179.14 ENSG00000253363.7 ENST00000378618.6 . downstream upstream . ^(CTGGGTTCCGGAAGCCGGAGAGCTGGAGCTTTGAAGCCACCCCGGTCAAAGGATGCTGAGTCCGGAGCG)CCTAGCCCTACCGGACTACGAGTATCTGG___CTCAGCGACATGTCCTCACCTACATGGAGGATGCAGTGTGCCAGCTGCTAGAAAACAGGGAAGATATTAGCCAATATGGAATTGCCAGGTTCTTCACTGAATA|AGAAGTTTAAGAGAGAGAGAAGGAGGAAATTGCCAAAAAAGAAGACCATCCCTGATGATTTGAATGCAGGCAAAATCTTGGAGGACTCTACAAAGCTGGAGCTGGGAGAACATGTACTGCAGATGTCAAAGCCAGTGCGGGAAGGTAAGTCAGCGGAGCCACTAGTGAAGTTTGAAGCAGGACGGGC . 01BR042 ENSG00000145494.12 ENSG00000121361.5 +/+ -/+ chr5:1815737 chr12:21773496 intron CDS translocation/5'-5' 20 14 1 41 58 medium . . Zinc-finger_domain(100%)| . . ENSG00000145494.12 ENSG00000121361.5 . . downstream upstream duplicates(5),mismatches(2) GTGGGACTGGGCACCCGGCATGTCCCCTCCTGGGCTCCAGCCCTGAAGGCCAAGCCTGGTTGTGCCTCACTGTCGTGTGCAGCACCCACCGCCTGCTCCAGGCCGCTGAGGTGTGGGGAGTGAATGGAGCTGCAGGCTGACAGTGATGTCCCTGGGGGTCCTAGGGGATGGCTGCGTAGCCCGGGGTGGGAGCCTGAGGCCAGGGGCTTCGGTCAGCCTGGAACCGAGATtGACAGTCTGCATTCTTACTTCAGTAGTAAC|CGCTCTTGGCGATGAAGCGGGCTTTGGGGAGGCGGTCTCGGATGCGCGGCTTGCGCAGGTTCTCTGCGGCGATGCGCGCCAGCACATACTCCTCCGGGATGATACTCTTTCTGGCCAACATCGTCCTGTCACCATAGCCAGCTTAGCCACCTCCCTCTCACCTGCCTCTCCGTCCCTGGACACCCGTCCTCCTGCACGAGGGAAACATTTATTAAAAACTTAAAAACCCACCCTATCCTCACC . 01BR042 ENSG00000139083.11(23349),ENSG00000121380.12(131118) ENSG00000139083.11 ./- +/- chr12:11918726 chr12:11891597 intergenic 3'UTR deletion/read-through 19 10 0 60 91 medium . . . . . . ENSG00000139083.11 . . upstream downstream duplicates(2),mismatches(1) ATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGTCCAGCTTGTCTTTAACTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCAGCTGAGAGCTTTTTATTAGCGATTGGTGTGAAGGATCAAAGCCCTCTCATGAGTATTGCAACATGAAGATGTTACTGAAATGAACGTCCTAGGGGCTGCATTTAG|CCAAGACCCAACAGTAACAGGAACAGACCTGATCCACGTGGCAGGAAAAAGAGGAACCTGAACCCCTCTGCAAGTATTCTCTTTCCTGACCAGCTGGGCTTGCCGCACTTTGTGA...___GAAAACAACATCAGATGTCTTCCCCTAGATGAACGATGAAGAGTCAAACTGCAG . 01BR042 ENSG00000105325.14 ENSG00000088256.9 +/+ +/+ chr19:3531801 chr19:3113654 CDS intron duplication 2 11 0 79 29 medium out-of-frame . Anaphase-promoting_complex_subunit_4_WD40_domain(100%)|G-protein_alpha_subunit(100%) . . ENSG00000105325.14 ENSG00000088256.9 ENST00000441788.6 ENST00000078429.9 downstream upstream duplicates(2) ^(GGCCGGGCGCGCGCGGCGGAGGGAGGGAGCCGGGAGGCAGCGGAGGAGCGACCGCCGCCATATTAGGGACCGCGGAGCCCGGGATCCCGTCAGCGGCGGCCGCGGCCGGGCCTGCGGGAGCTGCGGAGGCCGGAGGCGGGCGCTGTGCGGTGCCAGGAGAGGCGGGGTCGGCGGGAGCCAGCGAGCCACGGGAGCGAGCCAG___GCTAACCTTGCCGCGGGCCGAGCCCTGCCTCGCCATGGACCAGGACTATGAGCGGCGCCTGCTTCGCCAGATCGTCATCCAGAATGAGAACACGATGCCACGC___GTCACAGAGATGCGGCGGACCCTGACGCCTGCCAGCTCCCCAGTGTCCTCGCCCAGCAAGCACGGAGACCGCTTCATCCCCTCCAGAGCCGGAGCCAACTGGAGCGTGAACTTCCACAGGATTAAC___GAGAATGAGAAGTCTCCCAGTCAGAACCGGAAAGCCAAGGACGCCACCTCAGACAACGGCAAAG___ACGGCCTGGCCTACTCTGCCCTGCTCAAGAATGAGCTGCTGGGTGCCGGCATCGAGAAGGTGCAGGACCCGCAGACTGAGGACCGCAGGCTGCAGCCCTCCACGCCTGAGAAGAAGGGTCTGTTCACG___TATTCCCTTAGCACCAAGCGCTCCAGCCCCGATGACGGCAACGATGTGTCTCCCTACTCCCTGTCTCCCGTCAGCAACAAGAG___CCAGAAGCTGCTCCGGTCCCCCCGGAAACCCACCCGCAAGATCTCCAAGATCCCCTTCAAGGTGCTGGACGCGCCC)GAGCTGCAGGACGACTTCTACCTCAATCTGGTGGACTGGTCGTCCCTCAATGTGtTCAGCGTGGGGCTAGGCACCTGCGTGTAgCTGTGGAGTGCCTGTACCAGCCAG___GTGACGCGGCTCTGTGACCTCTCAGTGGAAGGGGACTCAGTGACCTCCGTGGGCTGGTCTGAGCGG___GGGAACCTGGTGGCGGTGGGCACACACAAGGGCTTCGTGCAGATCTGGGACGCAGCCGCAGGGAAGAAGCTGTCCATGTTGGAGGGCC|CTGGAGGGGCCACGCCTTGGCAGGAGCCGGTGGACTCTGGTGTGACACTGGCCTGCTTGTATGCCTGGCCCTGCCGCTGCCCTCCCTGGGTCAGGAGTGAGCTCCTGGCCACCCTCG...___CTACCTGACCGACGTTGACCGCATCGCCACCTTGGGCTACCTGCCCACCCAGCAGGACGTGCTGCGGGTCCGCGTGCCCACCACCGGCATCATCGAGTACCCTTTCGACCTGGAGAACATCATCTTCCG___GATGGTGGATGTGGGGGGCCAGCGGTCGGAGCGGAGGAAGTGGATCCACT MDQDYERRLLRQIVIQNENTMPRVTEMRRTLTPASSPVSSPSKHGDRFIPSRAGANWSVNFHRINENEKSPSQNRKAKDATSDNGKDGLAYSALLKNELLGAGIEKVQDPQTEDRRLQPSTPEKKGLFTYSLSTKRSSPDDGNDVSPYSLSPVSNKSQKLLRSPRKPTRKISKIPFKVLDAPELQDDFYLNLVDWSSLNVfSVGLGTCV*LWSACTSQVTRLCDLSVEGDSVTSVGWSERGNLVAVGTHKGFVQIWDAAAGKKLSMLEG|pggatpwqepvdsgvtlaclyawpcrcppwvrsellatl 01BR042 ENSG00000121316.11 ENSG00000197241.3(7628),ENSG00000142583.18(1133) -/- ./- chr12:14517288 chr1:9033973 intron intergenic translocation 6 1 0 16 4 medium stop-codon . . . . ENSG00000121316.11 . ENST00000240617.10 . upstream downstream mismatches(1) ^(ACCACGTGAAGCGTCCTCGCCCCTCAGAGCCCGGAGCAGGCCGGGCTCAAGAAAGAGGAAAGTTGAGGACGCCCCACCTCGGAGAGGCGGCGCCCCTGAGTAGGCCAGGAGCCTCTCTTGCAACTTCTGCCACCGCGGGCCACCGCGGCCGCCTGATCCCGCAGAGGAAGGTCGCGGCCGTGGAGCGATGACCCGCGGCGGTCCGGGCGGGCGCCCGGGGCTGCCACAGCCGCCACCGCTTCTGCTGCTGCTGCTGCTGCTGCCGCTGTTGTTAGTCACCGCGGAGCCGCCGAAACCTGCAG___GAGTCTACTATGCAACTGCATACTGGATGCCTGCTGAAAAGACAGTACAAGTCAAAAATGTAATGGACAAGAATGGGGACGCCTATGGCTTTTACAATAACTCTGTGAAAACCACAGGCTGGGGCATCCTGGAGATCAGAGCTGGCTATGGCTCTCAAACCCTGAGCAATGAGATCATCATGTTTGTGGCTGGCTTTTTGGAGGGTTACCTCACTGCCCC___ACACATGAATGACCACTACACAAACCTCTACCCACAGCTGATCACGAAACCTTCCATCATGGATAAAGTGCAGGATTTTATGGA___GAAGCAAGATAAGTGGACCCGGAAAAATATCAAAGAATACAAGACTGATTCATTTTGGAGACATACAGGCTATGTGATGGCACAAATAGATGGCCTCTATGTAGGAGCAAAGAAGAGGGCTATATTAGAAGGGACAAAG___CCAATGACCCTGTTCCAGATTCAGTTCCTGAATAGTGTTGGAGATCTATTGGATCTGATTCCCTCACTCTCTCCCACAAAAAACGGCAGCCTAAAGGTTTTTAAGAGATGGGACATGGGACATTGCTCCGCTCTTATCAAG___GTTCTTCCTGGATTTGAGAACATCCTTTTTGCTCACTCAAGCTGGTACACGTATGCAGCCATGCTCAGGATATA)TAAACACTGGGACTTCAACGTCATAGATAAAGATACCAGCAGTAGTCGCCTCTCTTTCAGCAGTTACCCAG___AAATGATGCAGTTTGGATTTAAATTAAATGGCTAAAACTGAAAGAGCCaGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCCAAGGCAGGAGGAGCGCTTGAGCCCAGAAGTTTGAGACCAGGCTGTGCAACATAGCAAGACCCCCGTCTCTACAAAAAATTAAAAAATTTAGCCAGGTGTGGTGGTGCATGCC|AGGTGGAGAAGCAGCTGAACAGAGAGGGGAGTGGGGCTGGCTGGGGGGCAGCAGATGCAAATGTCTTGTGGGAGAGGGTTGGCCATGGTTCAGGGAACGATGGGAGGCAAGTGATGC . 01BR042 ENSG00000075785.13 ENSG00000244300.3(12836),ENSG00000239405.1(22214) +/+ ./+ chr3:128726359 chr3:128515806 5'UTR/splice-site intergenic duplication 0 6 1 1310 11 medium . . . . . ENSG00000075785.13 . ENST00000265062.8 . downstream upstream duplicates(2),mismatches(1) ^(AGTCTTGGCCATAAAGCCTGAGGCGG)CGGCAGCGGCGGAGTTGGCGGCTTGGAGAGCTCGGGAGAGTTCCCTGGAACCAGAACTTGGACCTTCTCGCTTCTGTCCTCCGTTTAGTCTCCTCCTCGGCGGGAGCCCTCGCGACGCGCCCGGCCCGGAGCCCCCAGCGCAGCGGCCGCG|TGGACAGATGATTTGAACAGCCACTTCATAAAAGAAGATGTATGAATGCCCAGTAAGAACATGACAAGATACTCAACATCACTTGTCTTTAAGGAACTGCAAATTAAAGGCACTATATACTCACAAAAAATGGCTAAAGTTAAAAAGACTGACAATAACAAGCGTTGAAGACCATGTGGA . 01BR042 ENSG00000231367.6 ENSG00000231367.6 -/- -/- chr2:38437858 chr2:38496478 intron exon/splice-site duplication 4 1 0 176 12 medium . . . . . ENSG00000231367.6 ENSG00000231367.6 . ENST00000671178.1 upstream downstream duplicates(1) CTGTCATGTCGTGCTGCACCTTCGCCCCCATCAAGGGACTGCAGTAGAAGCAGTCGTATTACAAGGTGGACCAATGGCTCCTTCTGAGGGTTTAGGATGGCTGACTAGAGGAGAGCGGGGGTGGAGGTCCTCTCTCCGGTGGATGAACCTGCAAGATGAAATAGCCAGAAGCTAGGCTGGGCATGGTGGCTTACGCCTGTAATCTCAGAACTTTGGGAAACCGAG|GGCAGGAAACTGAAGCTCTTGGGAAGGTGGAAGTTGCACGTGGTCTCACAGTCAACTGTGCCAGAATAGGAGGCCAGGAACCATCTCTGCTGGAGGAAGACCCACCACGCATCCCTTCAAGAATGCCAAGGTCCAGAGCAAGTGCTTCCCTTCTATGGGCACAGGAGGGCTGTGGGAGCCCACAGAATGTGCTTCTGGCCAGAG(___TGGGATCCCCGAGGAAGATGTTAAGACCTCTAATAATATTTAAGAGCAAAATTAGCACAGCTCCAGCCCATGGGCAAGTTAAGAGACAGGAGTAGTGTCTGTGGAGTGGAGGAAAGCAGAGGCTGCCGCTGACCATCCTGCAGCCCTCGCTCTGGCTGCTCACAGCTCTCCACCTTCTCTGGACTTCGTCACTTCAGT___ATGTGAAACAACCATTTCAACCAGCTTGGACAAAAGAGAGAAGCCAAGATGGGGCTGAGAAACCAATGCAGGCAGGCCCAGGGACCCAGGAGTCAGGGACCAGGTGCTACCAGATGCTTGCTCCGACTCGTGTTGCTGCTGTCTTCTCTGTGCCTCAACTCTGTCCTCTGTCACTGCAGGCAGCTTCCTCCCAAGGTG___CCATGAGAAGACATGCCTTGCTTCTCCTCTTCACCTTCTGCCATGATT___ATCTCCATGGGATAACCACATTGGTTTGTTTAGTAAACACTGAGACCAACTCCACCATCCAGAGGCCTGACAGACAAATGGCCTGAGACAGGGCTGGGAAAGTTTTGCTTCTGGTTGGGACTTCAGGAAGAGTTTTGTTTTGTTTTGTTTTCCCCCAAGGGAACAAGCCCTTGAATCCGGGAGGCCAAGGTTGCGGTGAACCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAACATAAAAAGTAAAAAAGATATGTACGTCAATGTCAGACTTTCTGTGCTGGATGGAAGGACTCTGAGCCTACCAAAGGAAGCGTATTTACAAACCTCTAGGTACTGACTTGTTGCTGAAGGTCAGAAATTTGCAATGACATTTGGATGTATTCAAGGGTGGAGGGGCAGGTTTGGGGAAAGTTCTTTTAAAGAAAAAATGCAAAA)$ . 01BR042 ENSG00000166326.7 ENSG00000176697.19 +/+ -/- chr11:35735445 chr11:27658585 CDS/splice-site CDS/splice-site inversion 2 2 0 1139 28 medium out-of-frame . B-box_zinc_finger(100%)|Nerve_growth_factor_family(100%) . . ENSG00000166326.7 ENSG00000176697.19 ENST00000299413.7 ENST00000314915.6 downstream downstream duplicates(3) ^(GGCGGCTGCCGCGATCTCTCCCTGGTAGCGGGAGGCTGAGCGGGCGGCGCGACGCGGGGGCCGACGGGGGCGCCGGGTGGCCGCGCCGGAAGTGCCTTGCGCGGCAGAGGAAGCGCAGGGACAGAGCGGAGCAGGCCGAGCCGGCGGAAAGGGTCTTTGCTGCTGCGCCCGGGCAGGGGCTGCCGCGGCCCCAGGTCCCGCTTCGAGACGCGGCGCGGTCCAGGCGGGAGGCGACTCCCTAGGAAGGGACCCGGGGCGGGAGGAGGAAGTGAGGCCGCGCGGAAGGAAGGCGGCGAGCCCCGGGGCCCCGAGGCCTTGGCCGCGTCACAGCACCCACATGGCCTCTGGAGTGGGCGCGGCCTTCGAGGAACTGCCTCACGACGGCACGTGTGACGAGTGCGAGCCCGACGAGGCTCCGGGGGCCGAGGAAGTGTGCCGAGAATGCGGCTTCTGCTACTGCCGCCGCCATGCCGAGGCGCACAGGCAGAAGTTCCTCAGTCACCATCTGGCCGAATACGTCCACGGCTCCCAGGCCTGGACCCCGCCAGCTGACGGAGAGGGGGCGGGGAAGGAAGAAGCGGAGGTCAAGGTGGAGCAGGAGAGGGAGATAGAAAGCGAGGCAGGGGAAGAGAGTGAGTCGGAGGAAGAGAGCGAGTCAGAGGAAGAGAGCGAGACAGAGGAAGAGAGTGAGGATGAGAGCGATGAGGAGAGTGAAGAAGACAGCGAGGAAGAAATGGAGGATGAGCAAGAAAGCGAGGCCGAAGAAGACAACCAAGAAGAAGGGGAATCCGAGGCGGAGGGAGAAACTGAGGCAGAAAGTGAATTTGACCCAGAAATAGAAATGGAAGCAGAGAGAGTGGCCAAGAGGAAGTGTCCGGACCATGGGCTTGATTTGAGTACCTATTGCCAGGAAGATAGGCAGCTCATCTGTGTCCTGTGTCCAGTCATTGGGGCTCACCAGGGCCACCAACTCTCCACCCTAGACGAAGCCTTTGAAGAATTAAGA___AGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAA___GTAACTCGGGACCAAATGAAGATGTTTATACAGCAGGAATTTAAGAAAGTTCAGAAAGTGATTGCTGATGAGGAGCAGAAGGCCCTTCATCTAGTGGACATCCAAGAGGCAATGGCCACAGCTCATGTGACTGAGATA)CTGGCAGACATCCAATCCCACATGGATAGGTTGATGACTCAGATGGCCCAAGCCAAGGAACAACTTGATACCTCTAATGAATCAGCTGAGCCAAAGGCAGAG___GGCGATGAGGAAGGACCCAG|TTCCACCAGGTGAGAAGAGTGATGACCATCCTTTTCCTTACTATGGTTATTTCATACTTTGGTTGCATGAAGGCTGCCCCCATGAAAGAAGCAAACATCCGAGGACAAGGTGGCTTGGCCTACCCAGGTGTGCGGACCCATGGGACTCTGGAGAGCGTGAATGGGCCCAAGGCAGGTTCAAGAGGCTTGACATCATTGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGATGAGGACCAGAAAGTTCGGCCCAATGAAG(AAAACAATAAGGACGCAGACTTGTACACGTCCAGGGTGATGCTCAGTAGTCAAGTGCCTTTGGAGCCTCCTCTTCTCTTTCTGCTGGAGGAATACAAAAATTACCTAGATGCTGCAAACATGTCCATGAGGGTCCGGCGCCACTCTGACCCTGCCCGCCGAGGGGAGCTGAGCGTGTGTGACAGTATTAGTGAGTGGGTAACGGCGGCAGACAAAAAGACTGCAGTGGACATGTCGGGCGGGACGGTCACAGTCCTTGAAAAGGTCCCTGTATCAAAAGGCCAACTGAAGCAATACTTCTACGAGACCAAGTGCAATCCCATGGGTTACACAAAAGAAGGCTGCAGGGGCATAGACAAAAGGCATTGGAACTCCCAGTGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGATAGCAAAAAGAGAATTGGCTGGCGATTCATAAGGATAGACACTTCTTGTGTATGTACATTGACCATTAAAAGGGGAAGATAGTGGATTTATGTTGTATAGATTAGATTATATTGAGACAAAAATTATCTATTTGTATATATACATAACAGGGTAAATTATTCAGTTAAGAAAAAAATAATTTTATGAACTGCATGTATAAATGAAGTTTATACAGTACAGTGGTTCTACAATCTATTTATTGGACATGTCCATGACCAGAAGGGAAACAGTCATTTGCGCACAACTTAAAAAGTCTGCATTACATTCCTTGATAATGTTGTGGTTTGTTGCCGTTGCCAAGAACTGAAAACATAAAAAGTTAAAAAAAATAATAAATTGCATGCTGCTTTAATTGTGAATTGATAATAAACTGTCCTCTTTCAGAAAACAGAAAAAAAACACACACACACACAACAAAAATTTGAACCAAAACATTCCGTTTACATTTTAGACAGTAAGTATCTTCGTTCTTGTTAGTACTATATCTGTTTTACTGCTTTTAACTTCTGATAGCGTTGGAATTAAAACAATGTCAAGGTGCTGTTGTCATTGCTTTACTGGCTTAGGGGATGGGGGATGGGGGGTATATTTTTGTTTGTTTTGTGTTTTTTTTTCGTTTGTTTGTTTTGTTTTTTAGTTCCCACAGGGAGTAGAGATGGGGAAAGAATTCCTACAATATATATTCTGGCTGATAAAAGATACATTTGTATGTTGTGAAGATGTTTGCAATATCGATCAGATGACTAGAAAGTGAATAAAAATTAAGGCAACTGAACAAAAAAATGCTCACACTCCACATCCCGTGATGCACCTCCCAGGCCCCGCTCATTCTTTGGGCGTTGGTCAGAGTAAGCTGCTTTTGACGGAAGGACCTATGTTTGCTCAGAACACATTCTTTCCCCCCCTCCCCCTCTGGTCTCCTCTTTGTTTTGTTTTAAGGAAGAAAAATCAGTTGCGCGTTCTGAAATATTTTACCACTGCTGTGAACAAGTGAACACATTGTGTCACATCATGACACTCGTATAAGCATGGAGAACAGTGATTTTTTTTTAGAACAGAAAACAACAAAAAATAACCCCAAAATGAAGATTATTTTTTATGAGGAGTGAACATTTGGGTAAATCATGGCTAAGCTTAAAAAAAACTCATGGTGAGGCTTAACAATGTCTTGTAAGCAAAAGGTAGAGCCCTGTATCAACCCAGAAACACCTAGATCAGAACAGGAATCCACATTGCCAGTGACATGAGACTGAACAGCCAAATGGAGGCTATGTGGAGTTGGCATTGCATTTACCGGCAGTGCGGGAGGAATTTCTGAGTGGCCATCCCAAGGTCTAGGTGGAGGTGGGGCATGGTATTTGAGACATTCCAAAACGAAGGCCTCTGAAGGACCCTTCAGAGGTGGCTCTGGAATGACATGTGTCAAGCTGCTTGGACCTCGTGCTTTAAGTGCCTACATTATCTAACTGTGCTCAAGAGGTTCTCGACTGGAGGACCACACTCAAGCCGACTTATGCCCACCATCCCACCTCTGGATAATTTTGCATAAAATTGGATTAGCCTGGAGCAGGTTGGGAGCCAAATGTGGCATTTGTGATCATGAGATTGATGCAATGAGATAGAAGATGTTTGCTACCTGAACACTTATTGCTTTGAAACTAGACTTGAGGAAACCAGGGTTTATCTTTTGAGAACTTTTGGTAAGGGAAAAGGGAACAGGAAAAGAAACCCCAAACTCAGGCCGAATGATCAAGGGGACCCATAGGAAATCTTGTCCAGAGACAAGACTTCGGGAAGGTGTCTGGACATTCAGAACACCAAGACTTGAAGGTGCCTTGCTCAATGGAAGAGGCCAGGACAGAGCTGACAAAATTTTGCTCCCCAGTGAAGGCCACAGCAACCTTCTGCCCATCCTGTCTGTTCATGGAGAGGGTCCCTGCCTCACCTCTGCCATTTTGGGTTAGGAGAAGTCAAGTTGGGAGCCTGAAATAGTGGTTCTTGGAAAAATGGATCCCCAGTGAAAACTAGAGCTCTAAGCCCATTCAGCCCATTTCACACCTGAAAATGTTAGTGATCACCACTTGGACCAGCATCCTTAAGTATCAGAAAGCCCCAAGCAATTGCTGCATCTTAGTAGGGTGAGGGATAAGCAAAAGAGGATGTTCACCATAACCCAGGAATGAAGATACCATCAGCAAAGAATTTCAATTTGTTCAGTCTTTCATTTAGAGCTAGTCTTTCACAGTACCATCTGAATACCTCTTTGAAAGAAGGAAGACTTTACGTAGTGTAGATTTGTTTTGTGTTGTTTGAAAATATTATCTTTGTAATTATTTTTAATATGTAAGGAATGCTTGGAATATCTGCTGTATGTCAACTTTATGCAGCTTCCTTTTGAGGGACAAATTTAAAACAAACAACCCCCCATCACAAACTTAAAGGATTGCAAGGGCCAGATCTGTTAAGTGGTTTCATAGGAGACACATCCAGCAATTGTGTGGTCAGTGGCTCTTTTACCCAATAAGATACATCACAGTCACATGCTTGATGGTTTATGTTGACCTAAGATTTATTTTGTTAAAATCTCTCTCTGTTGTGTTCGTTCTTGTTCTGTTTTGTTTTGTTTTTTAAAGTCTTGCTGTGGTCTCTTTGTGGCAGAAGTGTTTCATGCATGGCAGCAGGCCTGTTGCTTTTTTATGGCGATTCCCATTGAAAATGTAAGTAAATGTCTGTGGCCTTGTTCTCTCTATGGTAAAGATATTATTCACCATGTAAAACAAAAAACAATATTTATTGTATTTTAGTATATTTATATAATTATGTTATTGAAAAAAATTGGCATTAAAACTTAACCGCATCAGAAGCCTATTGTAAATACAAGTTCTATTTAAGTGTACTAATTAACATATAATATATGTTTTAAATATAGAATTTTTAATGTTTTTAAATATATTTTCAAAGTACATAAAA)$ MASGVGAAFEELPHDGTCDECEPDEAPGAEEVCRECGFCYCRRHAEAHRQKFLSHHLAEYVHGSQAWTPPADGEGAGKEEAEVKVEQEREIESEAGEESESEEESESEEESETEEESEDESDEESEEDSEEEMEDEQESEAEEDNQEEGESEAEGETEAESEFDPEIEMEAERVAKRKCPDHGLDLSTYCQEDRQLICVLCPVIGAHQGHQLSTLDEAFEELRSKDSGGLKAAMIELVERLKFKSSDPKVTRDQMKMFIQQEFKKVQKVIADEEQKALHLVDIQEAMATAHVTEILADIQSHMDRLMTQMAQAKEQLDTSNESAEPKAEGDEEGPs|str* 01BR042 ENSG00000179818.14 ENSG00000115998.7 -/- -/- chr2:70051203 chr2:70165635 exon/splice-site CDS/splice-site duplication 0 4 0 36 39 medium . . . . . ENSG00000179818.14 ENSG00000115998.7 ENST00000435880.6 ENST00000264434.6 upstream downstream . ^(CGGGGGGGAGGGGCGGCGAGGCGAGGCCTGCGGAGCGG___AGGAAGACAAACATAAAGATGAAGTGCTTAATTCAAGGTCACACAATGTCGGGGATGGACCTCCAGATTTCCTTACTG___ACCTGCATTATCTTGTGGATACCTGAGTGAATTCCACACCACCCATTTTATAGATGAAACCACTGAGACATGGAGCAATTGACTGAGTAGTCACTGCCCCACCCCTGCCTGGAGCCTCACACATGACTCGCCTCCTCTCAGTGACCACAG___ATGGAGTCTTGCTGTGTCACCAGGATGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCTTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCAACCCGAGTAGCTGGCACTACAG___GAAAACAAGCTCAGGGCTCCCACTGATTGTACATTATG___GTGAGACGTGGTCTTGTAACACAGTG)GTTAAGAATGTGACTTTGGAGCCAGCCTGCTAGGGGCTGAATTCTGACTCAGCCATTTACTAACTGTGTGACCTTAG|GCAAACCAGAACCATTGGTGTTCCACATTCCTCAGTCATTTTTTGATGCCCTGCAACAAAGAATATCTATAGGAAGTGCAAAAAAACGGCTCCCCAACTCCACCACAG___ATGCCCTTGGAAATCACCCGTAGCTTTATCCAGAACCGAGATGGGACTTATGAGCTATTTAAATG(CCCTAAAGTGGAAGTAGAAAGCATAGCAGAAACCTACGGTCGTATAGAAAAACAACCAGTGCTGCGACCCTTGGAACTAAAAACTTTTCTCAAAGTTG___GCAACACTTCCCCAGATCAAAAGGAGCCAACACCTTTCATCATCGAGTGGATCCCAGATATCCTTCCCCAATCTAAGATTGGCGAGCTGCGGATCAAGTTTGAGTATGGCCACCACCGGAATGGGCATGTGGCGGAGTACCAAGACCAGCGGCCCCCCTTGGACCAGCCCTTGGAACTGGCCCCTCTGACCACTATTACTTTCCCTTAAAGCAAAACAAGATAATAATCTTTTGCTGCTTAATTTGCACATCCCCACCCCTTGACAACTTTAAATGCTAGTTAGGCACTTAGATGGCCCTGTTCCTTGGTAAACTGCTCTTAGCTAAGATGCAAATTCTCAGTGCTTTCAAGTGGATTCTGTTGAAGAAAATCTCTTGTAAATAGCCTTTTTGATGCTGCTGTGTACAGTCTTCATTATGCATTGGGCAGTATTTCTGGCTAGAGTTTTAAAAGGAACAGAAAGAAAACCAGCTTATTTTCCTTCTTACGGACTCATCTTTAGCGTTTATTTCAACCTTTTGCTAATTCTCTGAGAAATCTGCAGCACTCAGCCATACACCAACAGTGTTGGAAAGTTAACACCCTGGTTAGGGCAGAATGTTAAAGACCATCTTGGCAGAGTTCCAGCCACGCTCTTTATTCTGTTCTCAAATAAAGCAGTGTCACTAGTTTTTCCTAATTATA)$ . 01BR042 ENSG00000007062.11 ENSG00000249506.3 -/- -/- chr4:16075687 chr4:16397130 CDS/splice-site exon duplication 0 4 0 139 5 medium out-of-frame . . . . ENSG00000007062.11 ENSG00000249506.3 ENST00000505450.5 ENST00000572816.1 upstream downstream duplicates(1) ^(CTGCTGCACACTAAGGATCCAAATGATTGTTTTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTAAATTGCATTGGGATTAGGCAACAGAAGGGTCTAATGCGGCCGGGATGAGACAGGAGAGTTTTTAGGAGGGTAGCTGCATTCTAAGTAAGGGACTCTGCGGGGGGAAAAGAGGCGCAAGCGTTGCAAGAAGGGAGTGCAGGGGGTTGAGCAGGCACCTCTACAGGAAATGGATGCTGTCCAGGTGCTGGTGGGCGCCCCAGGGCTACGTGGCGAAGCAGCTCAGCCGGTCCAATCAGAGTGCGTCCAGGGCTCGGGTTTCGCGATCTTTAAGTGACTGAGGCAGATCCCCACGCGGCACCTGGCCATGCTCTCAGCTCTCCCGCCGCG___GGATGGTGCCTTGAGTGAATGACCCCCTTGGAGAACATTCTTCCGCATCCCTCGCCTCAAGCCAGCCTCAGACAGAAAACTGAAGATTCAGCAGATCCAGTGCTTCCTGCTCCTCTTCTGCCCAGGAACACGCTTGCCTTCCCCAAGGCTTCCAGAAGCTCTGAGGCAGGAGGCACCAAGTTCTACCTCATGTTTGGAGGATCTTGCTAGCTATGGCCCTCGTACTCGGCTCCCTGTTGCTGCTGGGGCTGTGCGGGAACTCCTTTTCAGGAGGGCAGCCTTCATCCACAGATGCTCCTAAGGCTTGGAATTATGAATTGCCTGCAACAAATTATGAGACCCAA)GACTCCCATAAAGCTGGACCCATTGGCATTCTCTTTGAACTAGTGCATATCTTTCTCTATGTGGTACAGCCGCGTGATTTCCCAGAAG|ATAAGCGACCTTGGTCACAAAGAGTTAAATAACTTGTCCAAGATCACACAGCTAAGAGATTCCAAGGTCTGGGCACACTTGCTGCAAATGAGAGGTGCATGAACTTAGCATATTAAACACTGGTGTGTCACTGGTCTGAGAGAAGATCTCTAACCCAAGCTGGCCCAATAATTGGACCTGAG(CTCATGGCCACTAATTGGTCCAAATTGTGTGGGTGTCACCCAAGTTTGTGCCAATCACAATATTTCCTGTGAGCGTTTGCCTCTGGAGACCAAGTTCAGAAGAAGCAAAGCAAAGAGCTGCAACATCATCTGTAGAAACTGGGAGAGATCAGCGCTCCAAAAACAGAGAAAAGCCAAGAGTGACAGCGAGTAAATCTTGGTGGAGTTCAGGTCTCTCAGTCTAGTTTTCGAGGTGCTGGATTTGCCTTTCCTTCCCAAAGCCTGGATTCTGGCTTTTAGTGGACGCTGAGAGCAACTCCATAATCTTCAGCTGGTTCCAGTTGGGTTCATGCATCTTGTCACCAAAAGTTGCACATACAGGAAAGTGACTGACTAGAAGAGGTCAGTGCAGATTCCCACCATCATCCTGCAGACCTGC___AGAG___CATTATCCCTCCAGGGTACTCTGACTCGGAGGAGAGGAAGAGTACGCCGAGGGATGGCGAGAGCTAGAAACAGCGCGAGAAGGCAGGCGAGGATGGCTACGGGAA)$ MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPE|dkrpwsqrvk* 01BR042 ENSG00000118564.15 ENSG00000169744.13 -/- -/- chr4:15655204 chr4:16595875 CDS/splice-site CDS/splice-site duplication 0 3 0 77 11 medium out-of-frame . Hemerythrin_HHE_cation_binding_domain(100%)|LIM-domain_binding_protein(100%) . . ENSG00000118564.15 ENSG00000169744.13 ENST00000341285.8 ENST00000304523.10 upstream downstream duplicates(1) ^(GCCCCGCGGCGAGGGTGTCTATGGAGAGGCGGCGGCCGCGGCTGCTGAGGCGGAGGCTGAGGC)AGTGGCGATGGCGCCCTTTCCTGAAGAAGTGGACGTCTTCACCGCCCCACACTGGCGGATGAAGCAGCTGGTGGGGCTCTACTGCGACAAG|CTATCGGCAGGACCCTCATCCCCCGTTACTTTAGCACTGTGTTTGAAGGAGGGGTGACCGACCTGTATTACATTCTCAAACACTCGAAAGAGTCATACCACAACTCATCCATCACGGTGGACTGCGACCAGTGTACCATGGTCACCCAGCACGGGAAGCCCATGTTTACCAAG___GTATGTACAGAAGGCAG(ACTGATCTTGGAGTTCACCTTTGATGATCTCATGAGAATCAAAACATGGCACTTTACCATTAGACAATACCGAGAGTTAGTCCCGAGAAGCATCCTAGCCATGCAT___GCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGG___TTGTGTGTAATATTGGAGCCAATGCAGGAACTGATGTCGAGACATAAAACTTACAACCTCAGTCCCCGAGACTGCCTGAAGACCTGCTTGTTTCAGAAGTGGCAGAGGATGGTGGCTCCGCCAG___CAGAACCCACAAGGCAACCAACAACCAAACGGAGAAAAAGGAAAAATTCCACCAGCAGCACTTCCAACAGCAGCGCTGGGAACAATGCAAACAGCACTGGCAGCAAGAAGAAGACCACAGCTGCAAACCTGAGTCTGTCCAGTCAGGTACCT___GATGTGATGGTGGTAGGAGAGCCAACTCTGATGGGAGGTGAGTTTGGGGACGAGGACGAAAGGCTAATCACTAGATTAGAAAACACGCAATATGATGCGGCCAACGGCATGGACGACGAGGAGGACTTCAACAATTCACCCGCGCTGGGGAACAACAGCCCGTGGAACAGTAAACCTCCCGCCACTCAAGAGACCAAATCAGAAAACCCCCCACCCCAGGCTTCCCAATAAGATGATCGGCACCAGAATCCACTGTCAATAGGCCCGTGGGTGATCATTACAATTGCAAATCTTTACTTACAGGAGAGGAAACAGAAGAGATAAAAACTTTTCCATGCAAATATCTATTTCTAAACCACAATGATCTGATTTTCTTTCTTCTTTCTTTTTTTCTAATTGAGAGGATTATTCCCAGTAAGCTTCCATGACCCTTTCTTGGAGGCCTTCACAGGTAATACAGATACTGGCACTGATTGTAATTAAAATGAGAGAAAACTCTAGCGCATCTTCTGGCACGGTTTTAACAACGTGTTTGTGTTGAATTTCCTTTTTATGCATCAAACGAAGGCCATATTGTCCATAAATGCTCAGTGCTCAGGATCTCATTAATATGCCGAACCTAACTACAGATGACTTTTTAATATTGTAAAATATTTTCTGCTTTTTGACTTGCATCTGAGAGTTTCTTGTTTCAGTAAAAAAAGAAAAGACAAAAAAATCAGCTTTGGAAAGTAATTTAAATGTACCTTATTTTTTTTTTCTTTATGTTTTCTTTCATTGGGCAACAGCTAAGAGGGCCCAGCAAGGTAATTTATGGTTGAGCTGATGTCAATTGGTTCTTGTCTTGAGTCGACTCAATTTAGCCCAAGTGCTGAAACAAGAAATGTCATTTTTTTCATCAAAGACACCAGGGCAGATTTTTAAGTAAAGAAAGACAATTGGACCCTTAAGAATTTATGCATTTGTAAAGTTGCTGTTGATCCAAATATTTTCAAGCCATGTAATCCATTGGTTTTGTGGGCAGTTTAATAAACCTGAACCTTTGTGTGTTTTCTAATTGTACCTGAGTTGACCATCCTTTCTTTTTATAGTATATTTCTTGTATGATATTTTGTAAAGCTCTCACCTGGTTCTTTTATGGGGACTTTTCGTTTTTGGGCAACTCCAGTGTATTTATGTGAAACTTTATAAGAGAATTAATTTTTCCATTTGCATATTAATATGTTCCTCCACACATGTAAAGGCACAGTGGCTCCGTGTGTTAAAAAACAGCTGTATTTTATGTATGCTTTACTGATAAGTGTGCCAATAATAAACTGTGTTAATGACCAAA)$ MAPFPEEVDVFTAPHWRMKQLVGLYCDK|lsagpsspvtlalclkeg* 01BR042 ENSG00000253313.6(245),ENSG00000066056.14(15120) ENSG00000117411.16 ./+ +/+ chr1:43285862 chr1:43981689 intergenic CDS/splice-site deletion 2 1 0 8 571 medium . . |N-terminal_domain_of_galactosyltransferase(100%),N-terminal_region_of_glycosyl_transferase_group_7(100%) . . . ENSG00000117411.16 . ENST00000372324.5 downstream upstream . GGCAGAGGGCGGGCTGCGGCAGCGCCTCCAGTGGGGAGGGATAATTCTACCTCTCCCCCAAGCTTTTGCCAAGAACTTTATGGGTGTAGACCTCACCCTCACCCCCCAATGCTTGCGGTTTGTACAGCTGGGATCCAGAGAAGCGTCCAGCGGGCCCTAGAGGGGCAGACACCTCAGCAG|TGGGCAGACTGCTGATCGAGTTCACCTCACCCATGCCCCTGGAGCGGGTGCAGAGGGAGAACCCAGGCGTGCTCATGGGCGGCCGATACACACCGCCCGACTGCACCCCAGCCCAGACGGTGGCG(GTCATCATCCCCTTTAGACACCGGGAACACCACCTGCGCTACTGGCTCCACTATCTACACCCCATCTTGAGGCGGCAGCGGCTGCGCTACGGCGTCTATGTCATCAACCAG___CATGGTGAGGACACCTTCAACCGGGCCAAGCTGCTTAACGTGGGCTTCCTAGAGGCGCTGAAGGAGGATGCCGCCTATGACTGCTTCATCTTCAGCGATGTGGACCTGGTCCCCATGGATGACCGCAACCTATACCGCTGCGGCGACCAACCCCGCCACTTTGCCATTGCCATGGACAAGTTTGGCTTCCG___GCTTCCCTATGCTGGCTACTTTGGAGGTGTGTCAGGCCTGAGTAAGGCTCAGTTTCTGAGAATCAATGGCTTCCCCAATGAGTACTGGGGCTGGGGTGGCGAGGATGATGACATCTTCAACCG___GATCTCCCTGACTGGGATGAAGATCTCACGCCCAGACATCCGAATCGGCCGCTACCGCATGATCAAGCACGACCGCGACAAGCATAACGAACCTAACCCTCAGAG___GTTTACCAAGATTCAAAACACGAAGCTGACCATGAAGCGGGACGGCATTGGGTCAGTGCGGTACCAGGTCTTGGAGGTGTCTCGGCAACCACTCTTCACCAATATCACAGTGGACATTGGGCGGCCTCCGTCGTGGCCCCCTCGGGGCTGACACTAATGGACAGAGGCTCTCGGTGCCGAAGATTGCCTGCCAGAGGACTGACCACAGCCTGGCTGGCAGCTGCTCTGTGGAGGACCTCCAGGACTGAGACTGGGCTCTGTTTTCCAAGGGTCTTCACTAGGCCCCCTAGCTACACCTGGAAGTTTCAGAACCCACTTTGGGGGGCCTCCTGCCTGGGCAGGCTCTTCAAGTGTGGCCCTCTTTGGAGTCAACCCTCCTTCCCGACCCCCTCCCCCTAGCCCAGCCCCAGTCACTGTCAGGGTCGGGCCAGCCCCTGCACTGCCTCGCAGAGTGGCCTGGGCTAGGTCACTCCACCTCTCTGTGCCTCAGTTTCCCCCCCTTGAGTCCCCTAGGGCCTGGAAGGGTGGGAGGTATGTCTAGGGGGCAGTGTCTCTTCCAGGGGGAATTCTCAGCTCTTGGGAACCCCCTTGCTCCCAGGGGAGGGGAAACCTTTTTCATTCAACATTGTAGGGGGCAAGCTTTGGTGCGCCCCCTGCTGAGGAGCAGCCCCAGGAGGGGACCAGAGGGGATGCTGTGTCGCTGCCTGGGATCTTGGGGTTGGCCTTTGCATGGGAGGCAGGTGGGGCTTGGATCAGTAAGTCTGGTTCCCGCCTCCCTGTCTGAGAGAGGAGGCAGGAGCCCCAGGGCCGGCTTGTGTTTGTACATTGCACAGAAACTTGTGTGGGTGCTTTAGTAAAAAACGTGAATGGAGC)$ . 01BR042 ENSG00000149091.15 ENSG00000227243.3 +/+ +/+ chr11:46347820 chr1:162444619 CDS/splice-site exon translocation 0 3 0 575 12 medium out-of-frame . . . . ENSG00000149091.15 ENSG00000227243.3 ENST00000456247.6 ENST00000451067.2 downstream upstream . ^(GCGGCGCGGAGCGGGCGTGCTGAGCCCCGGCCGCCGGCCCGGCATGGGCGTCTCCCGCGGGCCCTCCGCCGGCCGGGGCTAGGGCCGGATGGAGCCGCGGGACGGTAGCCCCGAGGCCCGGAGCAGCGACTCCGAGTCGGCTTCCGCCTCGTCCAGCGGCTCCGAGCGCGACGCCGGTCCCGAGCC)GGACAAGGCGCCGCGGCGACTCAACAAGCGGCGCTTCCCGGGGCTGCGGCTCTTCGGGCACAG|GCAAACCAGGTCAGTCCTGCCACCATGAAACCTCTTGCTCAGCTTCTCCTCTTTCTCCTCCAGTTTCAGAAAG___GGAATCTAGTTTCACAAAGCAGCTCAACCCCATTGATGGT(GAATGGGGTTCTGGGGGAGTCAGTAACTCTTCCCCTGGAGTTTCCTGCAGGAGAGAGGATCCAGTTCATCACTTGGCTTTGCAATGGAACATCTTTTGCCTTCCTAGAACCCTATGAAGGCAAAAGTCCAAAAATCTACGTGACTCATCCGAAATGGCAAAAGCGACTGAGCTTCACCCAGTCCTACTCCCCGCAGCTCAGCAACCTGGAGATGGAAAACATAGGCTTTTACAGTGCCCAGATAGCCACAGAGACCTCTGCAAAGCTGTCCAGTTACACTCTGAGGATATTCA___AGCAGCTGCCAAGGCCTCAAGTTAGAGTGGATTCTATCATCTCTGAAAATGGGATCTGTAATGCCATCTTGAGGTGTTCTGTGGAGGAAGGAGGAGAGACCATCACATATGAGTGGACATCAATGGGACCAGGGGCTGCTGTGTCCCACGTGGGGTCAGTCCTCTATGGCTCCTGAAGCCTTCATGACCTGGATTGGATCTACACTTGCACAGCTCTGAATCCTGTTAGCTACAGCAACTCTACTCTTACCCTTGCTGCACAGCTTTGT)$ MEPRDGSPEARSSDSESASASSSGSERDAGPEPDKAPRRLNKRRFPGLRLFGHr|qtrsvlpp* 01BR042 ENSG00000149091.15 ENSG00000227243.3 +/+ +/+ chr11:46347820 chr1:162446298 CDS/splice-site exon/splice-site translocation 3 0 0 575 22 medium out-of-frame . . . . ENSG00000149091.15 ENSG00000227243.3 ENST00000456247.6 ENST00000451067.2 downstream upstream . ^(GCGGCGCGGAGCGGGCGTGCTGAGCCCCGGCCGCCGGCCCGGCATGGGCGTCTCCCGCGGGCCCTCCGCCGGCCGGGGCTAGGGCCGGATGGAGCCGCGGGACGGTA)GCCCCGAGGCCCGGAGCAGCGACTCCGAGTCGGCTTCCGCCTCGTCCAGCGGCTCCGAGCGCGACGCCGGTCCCGAGCCGGACAAGGCGCCGCGGCGACTCAACAAGCGGCGCTTCCCGGGGCTGCGGCTCTTCGGGCACAG|AGCAGCTGCCAAGGCCTCAAGTTAGAGTGGATTCTATCATCTCTGAAAATGGGATCTGTAATGCCATCTTGAGGTGTTCTGTGGAGGAAGGAGGAGAG(ACCATCACATATGAGTGGACATCAATGGGACCAGGGGCTGCTGTGTCCCACGTGGGGTCAGTCCTCTATGGCTCCTGAAGCCTTCATGACCTGGATTGGATCTACACTTGCACAGCTCTGAATCCTGTTAGCTACAGCAACTCTACTCTTACCCTTGCTGCACAGCTTTGT)$ MEPRDGSPEARSSDSESASASSSGSERDAGPEPDKAPRRLNKRRFPGLRLFGHr|aaakass* 01BR042 ENSG00000159479.17 ENSG00000066056.14 -/- +/+ chr1:43385046 chr1:43317199 CDS/splice-site CDS/splice-site inversion 1 2 0 786 15 medium out-of-frame . |Protein_kinase_domain(100%) . . ENSG00000159479.17 ENSG00000066056.14 ENST00000290663.10 ENST00000372476.8 upstream upstream duplicates(1) ^(GGAAAACCGGAAGTGAAATCGTGGCAGCCGCCTCGGCCGCCGCAATGCAG___AGAGAGGAGAAGCAGCTTGAGGCATCATTAGATGCACTGCTGAGTCAAGTGGCTGATCTGAAGAACTCTCTGGGGAGTTTCATTTGCAAGTTGGAGAACGAGTATGGCCGGCTGACCTG___GCCATCTGTCCTGGACAGCTTTGCCTTGCTTTCTGGACAGCTGAACACTCTGAACAAGGTCTTGAAGCATGAAAAAACACCGCTGTTCCGTAACCAGGTCATCATTCCTCTGGTGTTGTCTCCAGACCGAGATGAAGATCTCATG___CGGCAGACTGAAGGACGGGTGCCTGTTTTCAGCCATGAGGTAGTCCCTGACCATCTGAGAACCAAGCCTGACCCTGAAGTGGAAGAACAGGAGAAGCAACTGACGACAGATGCTGCCCGCATTGGTGCAGATGCAGCCCAG___AAGCAGATCCAGAGCTTGAATAAAATGTGTTCAAACCTTCTGGAGAAAATCAGCAAAGAGGAGCGAGAATCAGAGAGTGGAG___GTCTCCGGCCGAACAAGCAGACCTTTAACCCTACAGACACTAATGCCTTGGTGGCAGCTGTTGCCTTTGGGAAAGGACTATCTAATTGGAGACCTTCAGGCAGCAGTGGTCCTGGCCAGGCAGGCCAGCCAGGAGCT)GGGACGATCCTTGCAGGAACCTCAGGATTACAGCAGGTGCAGATGGCAGGAGCTCCAAGCCAGCAGCAGCCAATGCTCAGTGGGGTACAAATGGCTCAGGCAGGTCAACCAG___GGAAAATGCCAAGTGGAATAAAAACCAACATCAAGTCGGCTTCCATGCATCCCTACCAGCG|GGCGAGGAGACCATCCTGCAGTTCAGCTCAGGGACCTTGACACTTACCCGGCGGCCAAAACTGCAGCCCGAGCCCCTGAGCTACCCAGTGCTAGAGTGGGAGGACATCACCTTTGAGGACCTCATCGGGG(AGGGGAACTTCGGCCAGGTCATCCGGGCCATGATCAAGAAGGACGGGCTGAAGATGAACGCAGCCATCAAAATGCTGAAAG___AGTATGCCTCTGAAAATGACCATCGTGACTTTGCGGGAGAACTGGAAGTTCTGTGCAAATTGGGGCATCACCCCAACATCATCAACCTCCTGGGGGCCTGTAAGAACCGAG___GTTACTTGTATATCGCTATTGAATATGCCCCCTACGGGAACCTGCTAGATTTTCTGCGGAAAAGCCGGGTCCTAGAGACTGACCCAGCTTTTGCTCGAGAGCATGGGACAGCCTCTACCCTTAGCTCCCGGCAGCTGCTGCGTTTCGCCAGTGATGCGGCCAATGGCATGCAGTACCTGAGTGAGAAGCAG___TTCATCCACAGGGACCTGGCTGCCCGGAATGTGCTGGTCGGAGAGAACCTAGCCTCCAAGATTGCAGACTTCGGCCTTTCTCGGGGAGAGGAGGTTTATGTGAAGAAGACGATG___GGGCGTCTCCCTGTGCGCTGGATGGCCATTGAGTCCCTGAACTACAGTGTCTATACCACCAAGAGTGATGT___CTGGTCCTTTGGAGTCCTTCTTTGGGAGATAGTGAGCCTTG___GAGGTACACCCTACTGTGGCATGACCTGTGCCGAGCTCTATGAAAAGCTGCCCCAGGGCTACCGCATGGAGCAGCCTCGAAACTGTGACGATGAAGT___GTACGAGCTGATGCGTCAGTGCTGGCGGGACCGTCCCTATGAGCGACCCCCCTTTGCCCAGATTGCGCTACAGCTAGGCCGCATGCTGGAAGCCAGGAAG___GCCTATGTGAACATGTCGCTGTTTGAGAACTTCACTTACGCGGGCATTGATGCCACAGCTGAGGAGGCCTGAGCTGCCATCCAGCCAGAACGTGGCTCTGCTGGCCGGAGCAAACTCTGCTGTCTAACCTGTGACCAGTCTGACCCTTACAGCCTCTGACTTAAGCTGCCTCAAGGAATTTTTTTAACTTAAGGGAGAAAAAAAGGGATCTGGGGATGGGGTGGGCTTAGGGGAACTGGGTTCCCATGCTTTGTAGGTGTCTCATAGCTATCCTGGGCATCCTTCTTTCTAGTTCAGCTGCCCCACAGGTGTGTTTCCCATCCCACTGCTCCCCCAACACAAACCCCCACTCCAGCTCCTTCGCTTAAGCCAGCACTCACACCACTAACATGCCCTGTTCAGCTACTCCCACTCCCGGCCTGTCATTCAGAAAAAAATAAATGTTCTAATAAGCTCCA)$ MQREEKQLEASLDALLSQVADLKNSLGSFICKLENEYGRLTWPSVLDSFALLSGQLNTLNKVLKHEKTPLFRNQVIIPLVLSPDRDEDLMRQTEGRVPVFSHEVVPDHLRTKPDPEVEEQEKQLTTDAARIGADAAQKQIQSLNKMCSNLLEKISKEERESESGGLRPNKQTFNPTDTNALVAAVAFGKGLSNWRPSGSSGPGQAGQPGAGTILAGTSGLQQVQMAGAPSQQQPMLSGVQMAQAGQPGKMPSGIKTNIKSASMHPYQr|arrpscssaqgp* 01BR042 ENSG00000117461.15 ENSG00000117013.17 -/- +/+ chr1:46043654 chr1:40817265 3'UTR CDS/splice-site inversion 0 2 0 66 16 medium stop-codon . Phosphatidylinositol_3-kinase_regulatory_subunit_P85_inter-SH2_domain(100%),SH2_domain(100%)|Ion_transport_protein(100%),KCNQ_voltage-gated_potassium_channel(100%) . . ENSG00000117461.15 ENSG00000117013.17 ENST00000420542.5 ENST00000347132.10 upstream upstream . ^(AACCGGCCTCAGCCAATCACCACCCACCTTGCCTCTCTTCCCTCGCCCCACTCCCTCCTCGCCTGGCTCGCGTGCTCCCGGCACTGACTCCTGGAGTGCGGCCAGCGCCCGGATCGTACCATTCTGATTGAGGCTGGGGGAGAGCGCGGATGGCTGATTGGGGAGCCGAAGCCTAGAGAGCGGTGGGGAGACGTGAAAGTCGAGATGGAGAGCAGCTTTTTGAACATGTTCTCAGGCACTTGACAGAATCCCG___CGCGATGTACAATACGGTGTGGAGTATGGACCGCGATGACGCAGACTGGAGGGAGGTGATGATGCCCTATTCGACAGAACTGATATTTTATATTGAAATGGATCCTCCAG___CTCTTCCACCAAAGCCACCTAAGCCAATGACTTCAGCAGTTCCAAATGGAATGAAGGACAGTTCTGTTTCTCTTCAGGATGCAGAATGGTACTGGGGGGATATTTCAAG___GGAGGAGGTAAATGACAAATTGCGGGATATGCCAGATGGGACCTTCTTGGTCCGAGATGCCTCAACAAAAATGCAGGGAGATTATACTTTGACTTTGCG___GAAGGGAGGCAATAATAAGTTAATAAAGATCTATCACCGGGATGGTAAATATGGCTTTTCTGATCCTCTGACATTTAATTCCGTGGTGGAGCTCATTAACCACTATCACCATGAATCTCTTGCTCAGTACAATCCCAAACTTGATGTGAAGCTGATGTACCCAGTGTCCAGATACCAACAG___GATCAGTTGGTAAAAGAAGATAATATTGATGCAGTAGGTAAAAAACTGCAAGAATACCACTCTCAGTATCAGGAGAAGAGTAAAGAGTATGATAGGCTGTATGAAGAATATACTAGAACATCCCAG___GAAATACAGATGAAGAGGACTGCAATAGAAGCTTTTAATGAAACAATTAAAATATTTGAAGAGCAGTGTCACACACAAGAACAACATAGCAAAGAATATATTGAGCGATTTCGCAGAGAGGGGAATGAAAAGGAGATTGAACG___AATTATGATGAATTATGATAAATTGAAATCACGTCTGGGTGAGATTCATGATAGCAAAATGCGTCTAGAGCAGGATTTGAAGAATCAAGCTTTGGACAACCGAGAAATAGATAAAAAAATGAATAGCATCAAACCTGACCTGATCCAGCTGCGAAAGATCCGAGATCAACACCTTGT___ATGGCTCAATCACAAAGGAGTGAGACAGAAACGCCTGAATGTCTGGCTGGGAATTAAGAATGAGGATGCTGATGA___GAACTATTTTATCAATGAGGAAGATGAAAACCTGCCCCATTATGATGAGAAAACCTGGTTTGTTGAGGATATCAATCGAGTACAAGCAGAGGACTTGCTTTATGGGAAACCTGATGGTGCATTCTTAATTCGTGAGAGTAGCAAGAAAGGATGCTATGCTTGCTCTGTGGT___GGCCGATGGGGAAGTGAAGCACTGTGTGATCTACAGCACTGCTCGGGGCTATGGCTTTGCAGAGCCCTACAACCTGTACAGCTCTCTGAAGGAGCTAGTGCTCCATTACCAGCAGACATCCTTGG)TTCAGCACAACGACTCCCTCAACGTCAGGCTTGCCTACCCTGTTCATGCACAGATGCCCTCGCTTTGCAGATAAAGAGGAAGTGGGAAGAGAG|ATTTTTGCTGGTCTTCAGCTGCCTGGTGCTGTCTGTGCTGTCCACTATCCAGGAGCACCAGGAACTTGCCAACGAGTGTCTCCTCATCTTG___GAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTG(TCATCG___ACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAG___GAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACG___ATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCC___GGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAG___GCTGCCTGGCGCCTGTACTCCACCGATATGAGCCGGGCCTACCTGACAGCCACCTGGTACTACTATGACAGTATCCTCCCATCCTTCAG___AGAGCTGGCCCTCTTGTTTGAGCACGTGCAACGGGCCCGCAATGGGGGCCTACGGCCCCTGGAGGTGCGGCGGGCGCCGGTACCCGACGGAGCACCCTCCCGTTACCCGCCCGTTGCCACCTGCCACCGGCCGGGCAGCACCTCCTTCTGCCCTGGGGAAAG___CAGCCGGATGGGCATCAAAGACCGCATCCGCATGGGCAGCTCCCAGCGGCGGACGGGTCCTTCCAAGCAGCATCTGGCACCTCCAACAATGCCCACCTCCCCAAGCAGCGAGCAGGTGGGTGAGGCCACCAGCCCCACCAAGGTGCAAAAGAGCTGGAGCTTCAATGACCGCACCCGCTTCCGGGCATCTCTGAGACTCAAACCCCGCACCTCTGCTGAGG___ATGCCCCCTCAGAGGAAGTAGCAGAGGAGAAGAGCTACCAGTGTGAGCTCACGGTGGACGACATCATGCCTGCTGTGAAGACAGTCATCCGCTCCATCAG___GATTCTCAAGTTCCTGGTGGCCAAAAGGAAATTCAAGGAGACACTGCGACCGTACGACGTGAAGGACGTCATTGAGCAGTACTCAGCAGGCCACCTGGACATGCTGGGCCGGATCAAGAGCCTGCAAACTCG___GGTGGACCAAATTGTGGGTCGGGGGCCCGGGGACAGGAAGGCCCGGGAGAAGGGCGACAAGGGGCCCTCCGACGCGGAGGTGGTGGATGAAATCAGCATGATGGGACGCGTGGTCAAGGTGGAGAAGCAG___GTGCAGTCCATCGAGCACAAGCTGGACCTGCTGTTGGGCTTCTATTCGCGCTGCCTGCGCTCTGGCACCTCGGCCAGCCTGGGCGCCGTGCAAGTGCCGCTGTTCGACCCCGACATCACCTCCGACTACCACAGCCCTGTGGACCACGAGGACATCTCCGTCTCCGCACAGACGCTCAGCATCTCCCGCTCGGTCAGCACCAACATGGACTGAGGGACTTCTCAGAGGCAGGGCAGCACACGGCCAGCCCCGCGGCCTGGCGCTCCGACTGCCCTCTGAGGCCTCCGGACTCCTCTCGTACTTGAACTCACTCCCTCACGGGGAGAGAGACCACACGCAGTATTGAGCTGCCTGAGTGGGCGTGGTACCTGCTGTGGGTGCCAGCGCCCCTTCCCCACCTCAGGAGCGTGAGATGCCAGGTCGCACAGAGGGCAGCAGCAGCGGCCGTCCCGCGGCCTCTGGGCCCCCCAGTGCCCTGCCCACTCCATCAAGGCCCTATGTGGCCCACCTGGCAGGGGCACAGCCCCGGGAGTGGGAGCGGGCGCTGGGGCCCTGGGCCCTGACCCAGCTTCCAGCTATGCAAGGTGAGGTCTCTGGCCCACCCTTCGGACACAGCAGGGAAGCCCTCCCGCCAAGTCCCCGCCCCACTTGGGGGTGGGCCAAGGTGCCCCCACAGGTACCCACAAAGCACAGGACCCTGCCACAAGGCAGGTGGACACCATATATGCAAACCATGTTAAATATGCAACTTTGGGGACCCCCATGGGGTCTCTCTGTCCCTCCCCCATTGGGAGCTGGGCCCCCAGCAGTAGCTGGTCTCAGGCTGCTTGGCCACCACCCTGTCCCTATTCTTTGGCTTATCACTCCTTCCCCTCCCAGCATGGGGCCTGTTTCTCCCCTGCCCTCTCCTAAGGGCAATGCCTGGGCCTTTCTTCCCATTTGCAAGTGTCAGCTCCCAGGGGCTCCCTCCTCCTGCTGGGTGGCCACTCCCCTCCTTGGCCCTCCAGACACCACTCATAGTCAGCACAGGTTTCTGTATCCTCCCCAAAACTCCCAGACAGTGCTTCGTGGACGATCGCACAAACATAGCCTTTTAGTTTCTCCAGACAGGAAGAAAGCCTCTCACACTTAAACATGCAATGACGTGACACACTTGGAGACATGAGTGCAGAGCCACTCAGCCGCTCCTGGGCCTCTGCAGCAGATGCCAGTGGACTGGCCTTGCAGGGTGACGACCACTAAGAGGAAGACCCCCAACTCCATCTGAGCAGGAGAAGGAGCTTTGAAGTAACCCGAGAGCTCTCCAGGCCCCACCCAGACCTTTACCCGCTCCCCTTCTTCAAGAAGATCTCCTCCTCTCTGGTCCAGGAGCCCTAACCCACTGCCTCTGCCTGTCCCCAAGGGCCCGCCTCCGTGTCTCCACAGCACAACTCGGGCCCAGGCCTGACACCACTGGAGAGACCCCAGGCCCACTTCTAGCCAGGCCTGTGCCTTCCTAGTCACTCTAACTCCCAGAGAGAATAAGAATGCATGTAATAGCTATACCAACCGCGCATCCGGCTTTCACATGCACTGTCTCCCCTCCCTCCACACCCCACTTCTTCACTTCAATTGGCAGCGCCACATCCAGGCGTCAGCCCCCATTCACTCCAGGAACACTTTCTTATCCCCACCCCTTTGCTCCTCTTCTGCAAAGCCAATGCAGGTGGCAGGAAGGTGAGGGGTAGTGGACCAATGGCAACCCTCTGTGGGAACAAGGGGCCGAGGCCACGCTGCCTGCATCTCGTGCTGGGGACCTGCATGCGCCAGCACCAGGGCTTGGACTGGATCTTACTCAGTCCATGGTGCCCAGCCTCTGCCCCAACATGCCCTCTGCATGTGACCGTCATGCCCTGGATGGAGCCACTCCTGGCTCACCCCACCTGCACTGCACTGTCCCCAGAGAGCCACCCCTCCACCCACTCAGAGACAGCTGTGGAGAGGGCCAGGAGAATGGGATTACCCTATGACCAAGGAGACATGGGAAGAAGCCCTCCTTCCTTCCACGATCGAGGTTCCGCCATCAACTCGGTTCTCGGATATGCAAGTACCTCACTTTGTTAACTTATTAACTTATTGGTTTCATTAAAGTTTTCAAGAGGA)$ . 01BR042 ENSG00000167005.14 ENSG00000159625.15 -/- +/+ chr16:56446626 chr16:57707460 CDS/splice-site CDS/splice-site inversion 0 2 0 350 3 medium in-frame . Nucleotide_hydrolase(100%)| . . ENSG00000167005.14 ENSG00000159625.15 ENST00000300291.10 ENST00000360716.8 upstream upstream duplicates(1) ^(CTCCTCTTGCGCTGTCCTGTTAATGGCGGGCAGTAGCCGCTGAGGGGATTGCAGATAACCGCTTCCCGCACGGGGAAAGTCTACCCTGCCTGCCACTTTCTGCTCGCCGTCAGCGCCGGAGCTCGCCAGCATGTCTGTGGTACCGCCCAATCGCTCGCAGACCGGCTGGCCCCGGGGGGTCACTCAGTTCGGCAACAAGTACATCCAGCAGACGAAGCCCCTCACCCTGGAGCGCACCATCAACCT___GTACCCTCTTACCAATTATACTTTTGGTACAAAAGAGCCCCTCTACGAGAAGGACAGCTCTGTTGCAGCCAGATTTCAGCGCATGAGGGAAGAATTTGATAAAATTGGAATGAGGAGGACTGTAGAAGGGGTTCTGATTGTACATGAGCACCGGCTACCCCATGTGTTACTGCTGCAGCTGGGAACAA)CTTTCTTCAAACT___ACCTGGTGGTGAACTTAACCCAGGAGAAGATGAAGTTGAAGGACTAAAACGCTTAATGACAGAG|GAAGCGGAGAAGGCAAAGCCGGATGCCCTGCACGGCCTGCGGGTGCACTCCTGGGTCCTTGTGCTATCGGGGAAGCGCGAGGTGCCTGAGAACTTCTTCATCGACCCATTCACAGGACATAGCTACAGCACCCAGGATGAGCACTTCCTGGGCATCGAAAGCCTGTGGAACCACAAGAACTACTGGA(TCAACATGCAGGATTGCTGGAACTGCTGCAAG___GACTTGATCTTTGACCTGGGTGACCCTGTGAGATGGGAGTACATGCTCCTGGGGACTGATAAGTCTCAGCTGTCCTTGACTGAAGAAGACGACAGTGGGATAAACGATGAGGATGATGTGGAAAATCTG___GGCAAGGAGGATGAGGATAAGAGCTTCGACATGCCCCACTCGTGGGTGGAGCAGATTGAGATCTCCCCGGAAG___CATTTGAGACCCGCTGCCCGAACGGGAAGAAGGTGATTCAGTACAAGAGGGCAAAGCTGGAGAAGTGGGCCCCGTACCTCAATAGCAATGGCCTTGTGAGCCGCCTCACCACCTATGAGGACTTGCAGT___GTACCAATATTTTGGAGATAAAGGAGTGGTACCAGAACCGGGAAGACATGCTGGAGCTGAAACACATAAACAAGACCACAGACCTGAAGACAGACTACTTCAAGCCTGGCCACCCCCAGGCTCTGCGCG___TGCACTCGTACAAGTCCATGCAACCTGAGATGGACCGTGTCATTGAGTTTTATGAAACGGCCCGTGTGGATGGCCTGATGAAGCGGGAGGAGACACCCAGGACAATGACAGAGTACTATCAAGGACGCCCAGACTTCCTCTCCTACCGCCATGCCAGCTTCGGACCCCGAGTCAAGAAGCTCACTCTGAGCAGTGCAGAGTCAAACCCCCGGCCCATTGTG___AAAATCACAGAGCGGTTCTTCCGCAACCCAGCGAAGCCCGCGGAGGAGGACGTGGCAGAGCGCGTGTTTCTGGTCGCGGAGGAGCGCATCCAGCTGCGCTACCACTGCCGTGAGGACCACATCACGGCCTCCAAGCGCGAGTTCCTGCGGCGCACCGAGGTGGACAGCAAAGGCAACAAGATCATCATGACGCCCGACATGTGCATCAGCTTCGAG___GTGGAGCCCATGGAGCACACCAAGAAGCTGCTCTACCAGTACGAGGCCATGATGCACCTGAAGAGGGAGGAGAAGCTGTCCAGACATCAGGTCTGGGAGTCAGAGCTGGAG___GTGCTGGAGATTCTGAAGCTTCGAGAGGAAGAGGAGGCGGCGCACACACTGACCATCTCCATCTATGACACCAAGCGGAATGAGAAGAGCAAGGAATATCGGGAGGCCATG___GAGCGCATGATGCACGAAGAGCACCTGCGGCAGGTGGAGACCCAGCTGGACTACCTGGCCCCATTCCTGGCCCAGCTCCCGCCAGGAGAGAAACTAACATGCTGGCAGGCGGTGCGCCTCAAGGATGAGTGCCTCAGCGACTTCAAGCAGCGGCTCATCAACAAGGCCAACCTCATCCAGGCCCGCTTTGAGAAG___GAGACCCAGGAGCTGCAAAAGAAGCAGCAGTGGTACCAGGAGAACCAGGTGACGCTGACACCCGAGGATGAAGACCTGTACCTGAGTTACTGCTCTCAGGCCATGTTCCGCATCCGCATCCTGGAGCAGCGCCTCAATCG___ACACAAGGAACTGGCCCCACTGAAGTACCTGGCTCTGGAGGAAAAGCTCTACAAGGACCCACGCCTGGGGGAGCTCCAGAAAATATTCGCTTGATGTCCCTCCTGGGGCCTCAGCCAGAGCTGCCAGAGAAAGGAAACCTCTTCCCGCAGCCTGGCTCCTGTGTTCCCTCTATCCAGCCAATGCCTGTTTACACAGACACCTGGCCTCACTGCCAGCCCACCTCCCCTACAGCCCTGTTTGTTCCTGCTTCTCATGATTTTCCTGTAAATAAACACACTCTTAATTTGCCATTTGTGCCTTGCGCTTCACAAGCTCCAGCAGCAGCCTTTCTCTTCTTCTGTTATCTATAGCCTGGGACCACCCCCTTCCTCCCCTTGGCCTGTCGTTTGCTTCCTGTCCTTCTCTCCGTTGGAATGTCAGGTCTTCACAGCACCTCTGCAGATGGTCCCACAGCCATCTGCAAACAACTGGTTATATCTCAATGTGACTAGGGTGGCCCACCTCACCAAGTGGGATGGGGAAGGCTAAGATGCATGCCCCAGAATTTGAGGACTGAATCCCAGCTCCTCCTCTTACCAGATACCACTTACCCATCTGTGGAATGGGGTAGCATTGTTGCATTAAATAAGACTTATGGCCA)$ MSVVPPNRSQTGWPRGVTQFGNKYIQQTKPLTLERTINLYPLTNYTFGTKEPLYEKDSSVAARFQRMREEFDKIGMRRTVEGVLIVHEHRLPHVLLLQLGTTFFKLPGGELNPGEDEVEGLKRLMTE|EAEKAKPDALHGLRVHSWVLVLSGKREVPENFFIDPFTGHSYSTQDEHFLGIESLWNHKNYWINMQDCWNCCKDLIFDLGDPVRWEYMLLGTDKSQLSLTEEDDSGINDEDDVENLGKEDEDKSFDMPHSWVEQIEISPEAFETRCPNGKKVIQYKRAKLEKWAPYLNSNGLVSRLTTYEDLQCTNILEIKEWYQNREDMLELKHINKTTDLKTDYFKPGHPQALRVHSYKSMQPEMDRVIEFYETARVDGLMKREETPRTMTEYYQGRPDFLSYRHASFGPRVKKLTLSSAESNPRPIVKITERFFRNPAKPAEEDVAERVFLVAEERIQLRYHCREDHITASKREFLRRTEVDSKGNKIIMTPDMCISFEVEPMEHTKKLLYQYEAMMHLKREEKLSRHQVWESELEVLEILKLREEEEAAHTLTISIYDTKRNEKSKEYREAMERMMHEEHLRQVETQLDYLAPFLAQLPPGEKLTCWQAVRLKDECLSDFKQRLINKANLIQARFEKETQELQKKQQWYQENQVTLTPEDEDLYLSYCSQAMFRIRILEQRLNRHKELAPLKYLALEEKLYKDPRLGELQKIFA* 01BR042 ENSG00000142599.19 ENSG00000070018.9(9485),ENSG00000207010.1(12698) -/- ./- chr1:8655973 chr12:12276529 CDS/splice-site intergenic translocation 0 2 0 19 6 medium out-of-frame . BAH_domain(100%)| . . ENSG00000142599.19 . ENST00000400908.7 . upstream downstream . ^(AGACGCTCGCGAGCAACCCTCCGCGCTCCGGAGCCTCCTCAGCCTCCCGCACACCCCGAGACGCTCGCCCCGCTGGGCCTCGGTCCCCGCCTCCTCCCCCGTCCTTTTCCCCTCTCTCGCTCCCCACATTGTCTCTGCCTCATTTTCTCTCCTAGTTGAGGATTAAAAAAAAAAAAAAATCACCATCATCCTCAGGGAGCCCCCTCGCCCTCGGAAAACAAAACCAGACATGATCCTGGGCTCCTGCTTCTGAAAGATCTGCCCGACCGAGGAGGAGGGAGCCTAGGTTCAAGTCGCAGGAAAGGTCACGGCAGGGAAGCCCCCTCAGCCCCTCCGCGTCGCCTCCCCGCGGGCCGCCCCTCTCGGCCCTGCGCCCCGCGGCCCCGCAGCCTCCGCGCGGCCTCCCGCCCCATCCCCGCCACTTTCCCCGGAGCTGGGCCGCGAACACCTCACTATTGATGGTGTAGCGCTTTAGGGGAAG___CATTTTTGAAACGTTGGGGTTGTTGGAGTGGTTGGATTTTCCCTGGAATTGAGTGAGAAATTCAGAAGACTGAAGCCCAGGCTTACTGTCTACCTTTCACGGAGGCCTAGCCGTGAGAGGACAGAAGAAGGCACGTGGCGAATCATGACAGCGGACAAAGACAAAGACAAAGACAAAGAGAAGGACCGGGACCGAGACCGGGACCGAGAGAGAGAGAAAAGAGACAAAGCAAGAGAGAGTGAGAATTCAAGGCCACGCCGGAGCTGTACCTTGGAAGGAGGAGCCAAAAATTATGCTGAGAGTGATCACAGTGAAGACGAGGACAATGACAACAATAGTGCCACCGCAGAGGAGTCCACGAAGAAGAATAAGAAGAAACCACCGAAAAAAAAGTCTCGTTATG)AAAGGACAGATACCGGTGAGATAACATCCTACATCACTGAAGATGATGTGGTCTACAGACCAGGAG|GCATCTGGGCTTTATTCATTGGCTGTCCAATGTTTTTGAGAAACCTCTTCCACAAAGCAACTTTTCTATCCTGAGAGAGTTTTGAG___CAGCGCAAGAATGGCCTAACACACCTCCCAAACTGAGA MTADKDKDKDKEKDRDRDRDREREKRDKARESENSRPRRSCTLEGGAKNYAESDHSEDEDNDNNSATAEESTKKNKKKPPKKKSRYERTDTGEITSYITEDDVVYRPG|giwalfigcpmflrnlfhkatfls* 01BR043 ENSG00000115464.15 ENSG00000151746.15 -/- +/- chr2:61470650 chr12:32216450 CDS/splice-site CDS translocation/5'-5' 32 103 2 109 600 high out-of-frame . . . . ENSG00000115464.15 ENSG00000151746.15 ENST00000398571.7 . upstream downstream duplicates(16) ^(GCAGCCCGAGCGCTCTGTTAAAATGGCGGCGGCGTCGGCGGTGGCCGCGGCGTCTGGTCGGTGAAGTGACTCTGCTGCTTCTCTCCCCACCCGCCCCCTCCCCCCCTCTCCCCTCCCCCCGTCCTTCCCCCCCTTCCCCGCCGCCGGCGCCTCGGCGCCCCTCCGGCCTGCGCACCTCCCCTCGCTCCCCTCCTCTCCCCCTCCCGCTGCGGGGACCGCCGGCCCCCTCCCCCATTCTCTTGCTCCCCGCCC)CGTCCCCGCCGCCGCCCGCCCTAGTCGCCTCCCCGCCCCGCCGGCCGGCCGGCCCCCTCCTCCGCCTCTCTCCCCTCCCCCCCGCCGGTCGGGATCAGTCAGTGTGATCCGAAGCGGGGGAGGGGGGGGGCGGCGGCCGAACGATGTGCGAGAACTGCGCAGACCTGGTGGAGGTGTTAAATGAAA|ATCCTGCACGACTGCGGTGAGCCTCTCGTTTTCTGCCTGTACATTAGTGACCACAGCCCGGCTCTGTTTCAGCTCGTTCTGCATCTCCAAGATCTTCCCCAGATAGTAAGCCTCCTTCGATGCTGACTCCTGCAGAAGCGTTTCCTCCCGAGTCTCTCCATCTTCAGCAACCTTCCGGTGGATGGAGAAGGACTGCCCAAATGCCTGCAGAGTATATGGGAAGAAAAAGAGTACACAATGAAATGCATCATAACCCTCTTTTAAGACTTGGGAAAATGTTTTCTTCTGCTTATATGTGTAAGAAAAGCTACCCTGCAAGACCCCCGAAATATAACAGTCTAGCAGCTCTCACTGATGC MCENCADLVEVLNE|nparlr* 01BR043 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 32 22 0 60 73 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(6),mismappers(1),mismatches(1) CTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAG(GGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 01BR043 ENSG00000151746.15 ENSG00000252421.1(4071),ENSG00000252204.1(3927) +/+ ./+ chr12:32216459 chr12:31807161 CDS/splice-site intergenic duplication 15 17 0 600 90 high out-of-frame . . . . ENSG00000151746.15 . ENST00000652176.1 . downstream upstream duplicates(6) ^(ATCATTCCGCACCGGCTGCTGCAGGGCCAGAGGGAGCAGGTGGAGCGAGAGAGCGAGCCGCGAGCCGGAGCGCGCCAGACCCAGGGCGAGACTGCAGTGACGCGGCCCGGGAGACATGGCGGACGGGCGTCTCTGAATAAGCAGAATCCGGAGCCCCTCGCTACCCGCGGCCGCCGCAGCCCGGGCCATGCCGCACGGCTGCTGACCGCACGCAGGGGCCGGCCCCGAGGACACATGCGGCGGCCTTTGCCGCCTCGCCCCTGACCCTCTGCCCTGTTCTCCATGTTGCATTTCTCGTCAGTTTCTCGGGCGGTGTAGCTGCCGCTGCCACCAGAGCCGGCGGGGCATCGCGCTGCTCATTCATCCGGCCGCACTTTCTTTTCCGTTTCCACCCATCCCTTCCCATTTCCTTCTCCCTTTCCCCGCCAGCTTCGCATCCATCTCCCCCACCCCGTAACCCCCTCCTGCCTCCATCCACCGGGGCTATGGCCGCAGAAGAGGTATTGCAGACGGTGGACCATTATAAGACTGAGATAGAGAGGCTAACCAAGGAGCTCACGGAGACCACCCACGAGAAGATCCAGGCTGCCGAGTACGGGCTGGTGGTGCTGGAGGAGAAGCTGACCCTCAAACAGCAGTA)TGATGAACTGGAGGCTGAGTACGACAGCCTCAAACAGGAGCTGGAGCAGCTCAAAGAG___GCATTTGGGCAGTCCTTCTCCATCCACCGGAAGGTTGCTGAAGATGGAGAGACTCGGGAGGAAACGCTTCTGCAGGAGTCAGCATCGAAGGAGGCTTACTATCTGGGGAAGATCTTGGAGATGCAGAACGAGCTGAAACAGAGCCGGGCTGTGGTCACTAATGTACAGGCAGAAAACGAGAGGCTCACCGCAGTCGTGCAGGATCTGAAGGAG|GTCTTCATTTTCCTGCCTCCGTTTCATGGTCACAAGATAGCTGCTGTACCCACATGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCCCTGTGACCTGCACGTATACATCCAGATGGCCTGAAGTAACTGAAGAATCACAGAAGAAGTGAAAATGGCCCATTCCTGCCTTAACTTATGACATCCCACCATTGTGATTTGTTGCTGCCCCACCTTAACTGAGCGATTAACCTTGTGAAATTCCTTCTCCTGGC MAAEEVLQTVDHYKTEIERLTKELTETTHEKIQAAEYGLVVLEEKLTLKQQYDELEAEYDSLKQELEQLKEAFGQSFSIHRKVAEDGETREETLLQESASKEAYYLGKILEMQNELKQSRAVVTNVQAENERLTAVVQDLKE|vfiflppfhghkiaavptcqasepklshhipcdlhvyiqma* 01BR043 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 11 20 0 60 118 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(6),inconsistently_clipped(2),mismatches(2) CCTGTGGGTCGGGGTCCTCTGGCGGAGTTAAAAAAAAAA[a]GAGGTGAAACTGCGGGACCGGCGCTGCGAGgCGCTAGGCTTCGCCcCAAACTTTGCTGTTGCgGCGGgGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC???GGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACC(TAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 01BR043 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 15 10 0 34 46 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(5) CCGGaCTCGCCCCTCGCCGCGGAGGAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCC(CAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 01BR043 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 18 7 0 222 68 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(8) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGG)CATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 01BR043 ENSG00000151746.15 ENSG00000223722.3 +/+ +/+ chr12:32216459 chr12:31754761 CDS/splice-site exon duplication 2 15 1 600 63 high out-of-frame . . . . ENSG00000151746.15 ENSG00000223722.3 ENST00000652176.1 ENST00000453713.1 downstream upstream duplicates(2) ^(ATCATTCCGCACCGGCTGCTGCAGGGCCAGAGGGAGCAGGTGGAGCGAGAGAGCGAGCCGCGAGCCGGAGCGCGCCAGACCCAGGGCGAGACTGCAGTGACGCGGCCCGGGAGACATGGCGGACGGGCGTCTCTGAATAAGCAGAATCCGGAGCCCCTCGCTACCCGCGGCCGCCGCAGCCCGGGCCATGCCGCACGGCTGCTGACCGCACGCAGGGGCCGGCCCCGAGGACACATGCGGCGGCCTTTGCCGCCTCGCCCCTGACCCTCTGCCCTGTTCTCCATGTTGCATTTCTCGTCAGTTTCTCGGGCGGTGTAGCTGCCGCTGCCACCAGAGCCGGCGGGGCATCGCGCTGCTCATTCATCCGGCCGCACTTTCTTTTCCGTTTCCACCCATCCCTTCCCATTTCCTTCTCCCTTTCCCCGCCAGCTTCGCATCCATCTCCCCCACCCCGTAACCCCCTCCTGCCTCCATCCACCGGGGCTATGGCCGCAGAAGAGGTATTGCAGACGGTGGACCATTATAAGACTGAGATAGAGAGGCTAACCAAGGAGCTCACGGAGACCACCCACGAGAAGATCCAGGCTGCCGAGTACGGGCTGGTGGTGCTGGAGGAGAAGCTGACCCTCAAACAGCAGTATGATGAACTGGAGGCTGAGTACGACAGCCTCAAACAGGAGCTGGAGCAGCTCAAAGAG___GCATTTGGGCAGT)CCTTCTCCATCCACCGGAAGGTTGCTGAAGATGGAGAGACTCGGGAGGAAACGCTTCTGCAGGAGTCAGCATCGAAGGAGGCTTACTATCTGGGGAAGATCTTGGAGATGCAGAACGAGCTGAAACAGAGCCGGGCTGTGGTCACTAATGTACAGGCAGAAAACGAGAGGCTCACCGCAGTCGTGCAGGATCTGAAGGAG|CGGCCAGCCCCCCAACTATGAGATGCTCAAGGAGGAGCACAAGGTGGCTGTGCTGGGGGTGCCCCACAACCCTGCTCCCCCAACGTCCACCGTGATCCACATCCGCAGCAAGACCTCCGTGCCCCACCATGTCGTCTGGTCCCTGTTCAACACCCTCTTCATGAACCCCTGCTGCCTGGGCTTCATAGCATTTGCCTACTCCGTGAAGTCTAGGGACAGGAAGATGGTTGGCAACGTGACTGGGGC(CCAGGCCTATGCCTCCACCACCAAGTGCCTGAACATCTGGGCCCTGATTTTGGGCATCCTCATGACCATTCTGCTCATCATCATCCCAGTATTAATCTTCCAAGCCCATAGATAG)$ MAAEEVLQTVDHYKTEIERLTKELTETTHEKIQAAEYGLVVLEEKLTLKQQYDELEAEYDSLKQELEQLKEAFGQSFSIHRKVAEDGETREETLLQESASKEAYYLGKILEMQNELKQSRAVVTNVQAENERLTAVVQDLKE|rpapql* 01BR043 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 10 0 24 25 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1),mismappers(1) ATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAAT(G___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 01BR043 ENSG00000110104.13 ENSG00000149506.11 +/+ +/+ chr11:60842882 chr11:60873634 CDS/splice-site CDS/splice-site deletion/read-through 7 7 0 135 19 high in-frame . |Zona_pellucida-like_domain(100%) . . ENSG00000110104.13 ENSG00000149506.11 ENST00000227520.10 ENST00000278853.9 downstream upstream duplicates(2) ^(ACCGGCTGAGCCATGGATACACCGTTAAGGCGCAGCCGACGGCTGGGAGGCCTAAGGCCCGAATCCCCCGAGAGCCTCACCTCAGTTTCGCGGACGAGACGGGCCCTTGTGGAGTTCGAGTCGAACCCAGAAGAAACGAGGGAGCCCGGGTCTCCTCCGAGTGTGCAGCGGGCTGGCCTGGGGTCCCCCGAAAGGCCGCCGAAGACAAGCCCAGGATCACCCCGTCTGCAGCAGGGTGCAGGCTTGGAGTCACCCCAAGGGCAGCCAGAGCCAGGCGCAGCGTCCCCCCAGCGTCAGCAAGACCTACACCTGGAGTCGCCTCAAAGACAGCCAGAGTACAGTCCTGAATCCCCACGATGTCAGCCGAAGCCAAGTGAGGAGGCACCAAAGTGTTCTCAGGACCAGGGAGTACTGGCCTCGGAGTTGGCCCAGAATAAGGAGGAGCTGACCCCGGGGGCCCCCCAGCATCAGCTACCGCCGGTCCCAGGATCACCAGAGCCT)TACCCCGGTCAGCAAGCTCCCGGaCCGGAGCCCTCTCAGCCACTACTGGAGCTGACACCCAGGGCACCTGGCTCCCCCCGGGGTCAGCATGAGCCGAGCAAGCCACCTCCAGCTGGGGAGACGGTGACAGGCGGCTTCGGGGCAAAGAAGCGAAAAGGTTCTTCATCCCAGGCCCCAGCGTCCAAGAAGTTGAATAAAGAGGAGCTTCCTGTAATCCCGAAGGGGAAGCCCAAATCGGGGCGAGTGTGGAAGGACCGCTCCAAGAAAAG|ATGCCCTTTCAAGGGCGACAGCTACAGAACCCAAATGGTAGCCTTGGACGGGGCCACACCTTTCCAGTCGCACTACCAGCGATTCACTGTTGCTACCTTCGCCCTCCTGGACTCAGGCTCCCAGAGAGCCCTCAGAGGACTG___GTTTACTTGTTCTGCAGCACCTCTGCCTGCCACACCTCAGGGCTGGAGACTTGCTCCACTGCATGTAGCACTGGCACTACAA___GACAGCGACGATCCTCAGGTCAC(CGTAATGACACTGCCAGGCCCCAGGACATCGTGAGCTCTCCGGGGCCAGTGGGCTTTGAGGATTCTTATGGGCAGGAGCCCACACTTGGGCCCACAG___ACTCCAATGGGAACTCCAGCCTGAGACCTCTCCTTTGGGCGGTCCTTTTGCTGCCAGCTGTTGCCCTGGTCCTTGGGTTTGGTGTCTTTGTGGGCCTGAGCCAGACCTGGGCCCAGAAGCTCTGGGAAAGCAACAGACAGTGAATGGGCCCAATAAACAATCATTTCAAACCTACTGAAA)$ MDTPLRRSRRLGGLRPESPESLTSVSRTRRALVEFESNPEETREPGSPPSVQRAGLGSPERPPKTSPGSPRLQQGAGLESPQGQPEPGAASPQRQQDLHLESPQRQPEYSPESPRCQPKPSEEAPKCSQDQGVLASELAQNKEELTPGAPQHQLPPVPGSPEPYPGQQAPGPEPSQPLLELTPRAPGSPRGQHEPSKPPPAGETVTGGFGAKKRKGSSSQAPASKKLNKEELPVIPKGKPKSGRVWKDRSKKr|CPFKGDSYRTQMVALDGATPFQSHYQRFTVATFALLDSGSQRALRGLVYLFCSTSACHTSGLETCSTACSTGTTRQRRSSGHRNDTARPQDIVSSPGPVGFEDSYGQEPTLGPTDSNGNSSLRPLLWAVLLLPAVALVLGFGVFVGLSQTWAQKLWESNRQ* 01BR043 ENSG00000115464.15 ENSG00000256843.1(1198),ENSG00000223722.3(5282) -/- ./- chr2:61470650 chr12:31749438 CDS/splice-site intergenic translocation 2 10 0 109 58 high out-of-frame . . . . ENSG00000115464.15 . ENST00000398571.7 . upstream downstream . ^(GCAGCCCGAGCGCTCTGTTAAAATGGCGGCGGCGTCGGCGGTGGCCGCGGCGTCTGGTCGGTGAAGTGACTCTGCTGCTTCTCTCCCCACCCGCCCCCTCCCCCCCTCTCCCCTCCCCCCGTCCTTCCCCCCCTTCCCCGCCGCCGGCGCCTCGGCGCCCCTCCGGCCTGCGCACCTCCCCTCGCTCCCCTCCTCTCCCCCTCCCGCTGCGGGGACCGCCGGCCCCCTCCCCCATTCTCTTGCTCCCCGCCCCGTCCCCGCCGCCGCCCGCCCTAGTCGCCTCCCCGCCCCGCCGGCCGGCCGGCCCCCTCCT)CCGCCTCTCTCCCCTCCCCCCCGCCGGTCGGGATCAGTCAGTGTGATCCGAAGCGGGGGAGGGGGGGGGCGGCGGCCGAACGATGTGCGAGAACTGCGCAGACCTGGTGGAGGTGTTAAATGAAA|ACTTTGCCTTCAGGTGAATCAACTGACACCAGCTTGAACAGTGACCGTGACTGCAACAAAGGAACTGACTCAACCGGTCCTCTGACCACTCCCCTGCAGGAAATGACTCAGCACATGAAGACAGTTTCAACACTCCTATGATTTCATCCCCCAACCAATCCACAACATCTGTTTCCTAATGCCCTACCTGCC MCENCADLVEVLNE|nfafr* 01BR043 ENSG00000075711.21 ENSG00000119227.8 -/- -/- chr3:197104903 chr3:196956342 CDS/splice-site intron deletion/read-through 2 8 0 124 18 high in-frame . L27_1(100%),PDZ-associated_domain_of_NMDA_receptors(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Polyubiquitination_(PEST)_N-terminal_domain_of_MAGUK(100%)|Alg9-like_mannosyltransferase_family(100%) . . ENSG00000075711.21 ENSG00000119227.8 ENST00000663148.1 ENST00000412723.6 upstream downstream . ^(AGCTTCGGAGGGCGCGACTCCGG___GTGTGTGCCCTCTTCCTGATTCTGGAGAAAAATGCCGGTCCGGAAGCAAG___ATACCCAGAGAGCATTGCACCTTTTGGAGGAATATCGTTCAAAACTAAGCCAAACTGAAGACAGACAGCTCAGAAGTTCCATAGAACGGGTTATTAACATATTTCAGAGCAACCTCTTTCAGGCTTTAATAG___ATATTCAAGAATTTTATGAAGTGACCTTACTGGATAATCCAAAATGTATAGATCGTTCAAAGCCGTCTGAACCAATTCAACCTGTGAATACTTGGGAGATTTCCAGCCTTCCAAGCTCTACTGTGACTTCAGAGACACTGCCAAGCAGCCTTAGCCCTAGTGTAGAG___AAATACAGGTATCAGGATGAAGATACACCTCCTCAAGAGCATATTTCCCCACAAATCACAAATGAAGTGATAGGTCCAGAATTGGTTCATGTCTCAGAGAAGAACTTATCAGAGATTGAGAATGTCCATGGATTTGTTTCTCATTCTCATATTTCACCAATAAAG___GCAAATCCTCCCCCAGTACTGGTCAACACAGATAGCTTGGAAACACCAACTTAC___GTTAATGGCACAGATGCAGATTATGAATATGAAGAAATCACACTTGAAAGG___GGAAATTCAGGGCTTGGTTTCAGCATTGCAGGAGGTACGGACAACCCACACATTGGAGATGACTCAAGTATTTTCATTACCAAAATTATCACAGGGGGAGCAGCCGCCCAAGATGGAAGATTGCG___GGTCAATGACTGTATATTACGAGTAAATGAAGTAGATGTTCGTGATGTAACACATAGCAAAGCAGTTGAAGCGTTGAAAGAAGCAGGGTCTATTGTACGCTTGTATGTAAAAAGAAGGAAACCAGTGTCAGAAAAAATAATGGAAATAAAGCTCATTAAAGGTCCTAAAG___GTCTTGGGTTTAGCATTGCTGGAGGTGTTGGAAATCAGCATATTCCTGGGGATAATAGCATCTATGTAACCAAAATAATTGAAGGAGGTGCAGCACATAAGGATGGCAAACTTCAGATTGGAGATAAACTTTTAGCA___GTGAATAACGTATGTTTAGAAGAAGTTACTCATGAAGAAGCAGTAACTGCCTTAAAGAACACATCTGATTTTGTTTATTTGAAAGTGGCAAAACCCACAAGTATGTATATGAATGATGGCTATGCACCACCTGATATCACCAACT___CTTCTTCTCAGCCTGTTGATAACCATGTTAGCCCATCTTCCTTCTTGGGCCAGACACCAGCATCTCCAGCCAGATACTCCCCAGTTTCTAAAGCAGTACTTGGAGATGATGAAATTACAAG___GGAACCTAGAAAAGTTGTTCTTCATCGTGGCTCAACGGGCCTTGGTTTCAACATTGTAGGAGGAGAAGATGGAGAAGGAATATTTATTTCCTTTATCTTAGCCGG)AGGACCTGCTGATCTAAGTGGAGAGCTCAGAAAAGGAGATCGTATTATATCG___GTAAACAGTGTTGACCTCAGAGCTGCTAGTCATGAGCAGGCAGCAGCTGCATTGAAAAATGCTGGCCAGGCTGTCACAATTGTTGCACAATATCGACCTGAAG|ACGTGCCTTTGCCTTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACT___ATGCAGATCTGTGGATCCAGCGTAGCATCTGTAGCAGCTGGGACATCATTCCAGGTTTTGGGCCCGGTGTGTTGGCAACAACTGGATCTGAAGATGGCAGTCAGGGTGCTTTGGGGTGGTCTCAGCCTGCTCCGAGTGCTGTGGTGTCTCCTTCCGCAGACGGGC(TATGTGCACCCAGATGAGTTCTTCCAGTCCCCTGAGGTGATGGCAG___AGGACATCCTGGGCGTTCAGGCCGCGCGGCCCTGGGAGTTTTACCCCAGCAGCTCCTGCCGCTCGGTGCTCTTCCCCCTGCTGATCTCTGGTTCCACCTTCTGGCTGCTCAGGCTCTGGGAGGAGCTGGGGCCGTGGCCTGGCCTGGTGAGCGGCTATGCGCTGCTGGTGGGGCCTCGACTCCTCCTCACTGCCCTTTCCTTTGCTCTGGACGGGGCCGTGTACCACCTGGCCCCGCCGATGGGGGCGGATCGCTGGAACGCCCTGGCCCTGCTGTCTGGTTCCTACGTCACCCTGGTCTTCTACACAAGGACCTTCTCCAACACCATTGAGGGACTCCTCTTCACGTGGCTGCTGGTGCTGGTATCCTCCCATGTAACGTGGGGCCCTACACGCAAGGAGCCGGCGCCGGGTCCACGGTGGCGCAGCTGGCTTCTTGGAGGCATTGTGGCTGCTGGCTTCTTCAACCGGCCCACCTTTCTGGCCTTTGCTGTGGTCCCCCTCTACCTCTGGGGCACTCGTGGAGCCACAAACCCTGGTTTGAAGTCTCTGACCCGGGAGGCCCTGGTGCTGCTCCCTGGGGCAGCCCTCACAGCAGCGGTGTTTGTGGCCACGGACAGCTGGTATTTCTCCAGCCCCGCTACATCCAGGAACCTTGTCCTGACACCTGTCAACTTCTTGCACTACAACCTGAATCCCCAAAACCTGGCGAGACATGGCACGCACGCGCGGCTCACTCACCTGGCAGTCAACGGCTTCCTGCTCTTCGGGGTGCTGCATGCCCAGGCCCTGCAGGCTGCGTGGCAACGGCTGCAAGTCGGCCTCCAGGCCTCTGCACAAATGGGCCTCCTGAGGGCACTGGGTGCCCGGAGCCTGCTGTCCAGCCCCAGGTCCTATCTCCTTCTCCTCTACTTCATGCCTCTGGCCCTGCTATCTGCCTTTAGCCACCAGGAGGCTCGGTTCCTGATTCCCCTCCTGGTCCCCCTGGTCCTGCTTTGTAGTCCACAGACGCAGCCTGTGCCTTGGAAGGGCACTGTGGTCCTCTTCAACGCCCTCGGTGCCCTCCTCTTCGGCTGCCTGCATCAGGGGGGCCTGGTGCCTGGCCTGGAGTACCTGGAGCAGGTGGTCCATGCCCCTGTGCTCCCAAGCACACCCACCCACTACACACTCCTCTTCACTCACACCTACATGCCCCCCCGGCACCTCCTACACCTCCCAGGCCTGGGGGCACCAGTGGAGGTGGTGGACATGGGGGGGACTGAGGACTGGGCCCTGTGCCAAACCCTGAAAAGCTTCACCAGACAACCAGCCTGCCAAGTGGCTGGTGGGCCATGGCTCTGCCGCCTCTTTGTGGTAACCCCTGGCACCACCAGGCGTGCCGTGGAGAAGTGCAGCTTCCCCTTCAAGAATGAAACACTTTTATTTCCCCATCTGACCCTGGAGGATCCACCAGCCCTGTCCTCCTTGCTGAGTGGGGCTTGGAGGGACCACCTCAGTCTTCACATTGTGGAGCTGGGGGAAGAAACCTGACAATATGACAGAGCACCCACTGCCCAAGACTCAGCCATAGAAGATGCCGCCCCACCTTCTACTTGGGTAGCTGGGCTGGGACGCTGGGACAGGACCCCGTCCTCCTTCATGACTCCCACTGCTGCCTCTCCTGGGCATGGCTGTTAGCTGTTCTGCCTTCTGGGTGAGCTGGCACTCTTCTCCCTGAGACCAAAGATTTGACCTGTCGGTCTTGATGTCAAGGTCCCCAAAGACCAGGTTAAGTGACGACACCTGTCTGTTCCTGCCCTGTTGCTTCCAGCCACTGTGATGTTTGAAATATGTGATAGTACCTGGTTGTGAAAAAAGACAATGAACTGCTAGTGACATTCCTCAATGACCTCTCCCAAACCTCCCATGATGCCTTACCCTTGCTGTCATGACAACCCTCTGGCTTCCTAAGACCCATCTGCCTATCGAAATATGTGCAAGTCAGTGAGACGAAGTATAGAGAACAGGTGGCCCAGATCCAGGGGACCCAACTTCTGGCCCCTTGGTCTGTCACCTCCTCGCTGTGTGATCTTGAGAAAGCTCCTTCCACTCACCCACCCCACTTCCCAGTCTGTTGGGATCAGAGGAACTTTGAGGTGTCTGCCGGCTAACATTGTGTCATTCCTGGAGTCCACAGTACACGTCCCCTGCCTCAACAGGCACAGCTCTCACAAAGCTCTTCAAGCATGGAAGTGGGAGTTGTGTTGTACTTCATGGCACTCTGATGCCTGCTGTCTCAGTGTTTGGTTATTATGCAAACAAGTAATGTTTGAAATATATAATAGCACTGGA)$ MPVRKQDTQRALHLLEEYRSKLSQTEDRQLRSSIERVINIFQSNLFQALIDIQEFYEVTLLDNPKCIDRSKPSEPIQPVNTWEISSLPSSTVTSETLPSSLSPSVEKYRYQDEDTPPQEHISPQITNEVIGPELVHVSEKNLSEIENVHGFVSHSHISPIKANPPPVLVNTDSLETPTYVNGTDADYEYEEITLERGNSGLGFSIAGGTDNPHIGDDSSIFITKIITGGAAAQDGRLRVNDCILRVNEVDVRDVTHSKAVEALKEAGSIVRLYVKRRKPVSEKIMEIKLIKGPKGLGFSIAGGVGNQHIPGDNSIYVTKIIEGGAAHKDGKLQIGDKLLAVNNVCLEEVTHEEAVTALKNTSDFVYLKVAKPTSMYMNDGYAPPDITNSSSQPVDNHVSPSSFLGQTPASPARYSPVSKAVLGDDEITREPRKVVLHRGSTGLGFNIVGGEDGEGIFISFILAGGPADLSGELRKGDRIISVNSVDLRAASHEQAAAALKNAGQAVTIVAQYRPE|dvplpstmivrppqpcgtMQICGSSVASVAAGTSFQVLGPVCWQQLDLKMAVRVLWGGLSLLRVLWCLLPQTGYVHPDEFFQSPEVMAEDILGVQAARPWEFYPSSSCRSVLFPLLISGSTFWLLRLWEELGPWPGLVSGYALLVGPRLLLTALSFALDGAVYHLAPPMGADRWNALALLSGSYVTLVFYTRTFSNTIEGLLFTWLLVLVSSHVTWGPTRKEPAPGPRWRSWLLGGIVAAGFFNRPTFLAFAVVPLYLWGTRGATNPGLKSLTREALVLLPGAALTAAVFVATDSWYFSSPATSRNLVLTPVNFLHYNLNPQNLARHGTHARLTHLAVNGFLLFGVLHAQALQAAWQRLQVGLQASAQMGLLRALGARSLLSSPRSYLLLLYFMPLALLSAFSHQEARFLIPLLVPLVLLCSPQTQPVPWKGTVVLFNALGALLFGCLHQGGLVPGLEYLEQVVHAPVLPSTPTHYTLLFTHTYMPPRHLLHLPGLGAPVEVVDMGGTEDWALCQTLKSFTRQPACQVAGGPWLCRLFVVTPGTTRRAVEKCSFPFKNETLLFPHLTLEDPPALSSLLSGAWRDHLSLHIVELGEET* 01BR043 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 6 4 0 19 70 high . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream duplicates(1),mismatches(1) ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGAC)CCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACtCtACGCCCcCCTCAACGTGGAGCGCAGTGGTCcCCGAGGAGCGCCGGtGCaGCCCCGCCTGCCCAGCGGGcTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCC(GATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 01BR043 ENSG00000229335.1 ENSG00000077264.15 +/+ +/+ chrX:115841078 chrX:111216421 exon/splice-site CDS/splice-site duplication 6 2 0 31 9 high . . |Protein_kinase_domain(100%) . . ENSG00000229335.1 ENSG00000077264.15 ENST00000451869.1 ENST00000425146.5 downstream upstream . ^CTTTCAGCCCTCACCTCCCAGGAATGGGGAGGGGGCATCCTACCCCATATCTGAGGTGCGACTGCGGGACGTAGAGCGGACTGGGCCTTTCCCGTTGGCGCGTGGCCTCAATCAG|GCATTGTATCTGATAGCCACTAATGGAACTCCAGAGCTCCAGAATCCTGAGAGACTGTCAGCTGTATTCCGTGACTTTTTAAATCGCTGTCTTGAGATGGATGTGGATAGGCGAGGATCTGCC(AAGGAGCTTTTGCAG___CATCCATTTTTAAAATTAGCCAAGCCTCTCTCCAGCCTGACTCCTCTGATTATCGCTGCAAAGGAAGCAATTAAGAACAGCAGCCGCTAAGACTGCAAGCCTTACACCTCACCATCTCCCTCATGAGTAAGACTGAAATAAAACTCTGCTGCAGGAAAGATGGAAGAAAAGACAGTCAAATGGGGTGGGGGTTCTTTACCTTTCAAATGAATAGAAACTTCTTATAAGCCTTTTTCCTACTCCCTCAGATTATGTAATTTATTTGTAAGCCTGAATCGCAGCCCAAACAGGGCAGCAATGTTGAAGTGACCATAAAGTGGTCACTTCCACCGTGAAGCGAAAGAGCCAGTAGTGAATCCCCTCATTTTGTGCATTCACTTTGAAGAAAAAGGTTTCTCAAAGATGCACACTCCCTCTTCATAGTGTTGTGTTTGTTTTTAAGTTAGAGAGTAGTCCCTCTTGCATTCAAACCTCCTTCAAAACTCCTTACCCAATGTGATGTTTTTCACTTGCATTGTCATTAGATGTCCAGAAAAAAAAAAGATGTCAAAATGTTTTTCT)$ . 01BR043 ENSG00000067177.15 ENSG00000202183.1(137863),ENSG00000236365.1(176439) -/- ./- chrX:72650390 chrX:82699210 CDS/splice-site intergenic duplication 0 4 2 42 15 high out-of-frame . Glycosyl_hydrolases_family_15(100%)| . . ENSG00000067177.15 . ENST00000373545.7 . upstream downstream duplicates(1),mismappers(4) ^(TCGCGCCCGCCCCGCCTCCCGCTCGCGTCTCCCGCAAGGTGGAGGCGGCGCAGCGGTCGTTGACCTGTTGGCGGCGGCCGGGCGGGAGGCTGTGGGCCGCGGCGGTCTCCCGGGGTTGAGGGGAGGATGCAGGAGTCACACGCGGAGGCCGGACTGGACTAAGGGGGCAGGAGCGGCGCCTGGGGCGCTGCGGCGGGGCTCTAGACCGCGGGAAGCCAGTGCTAGCGCTGGCGCGTGGTGGGCCCCTGAGGCCGCCGGAGTCCGGAGAGGTACGCGGAATCCGCGGCGCCAGGCCTGAGCGGTGGGAGGGCTCTGCGGGGCCTGGTGTTCAGGCGTCCCACCACGAGGGTGGAGCAGCGTTGGATACTTGTTCCTTAGGGACCGAAGGCTCCGGTGGCACCCGGGCTATTTCTCAGAGGACAATTAGTAACGTGTCGCCATGAGGAGCCGGAGTAACTCCGGGGTCCGGCTGGACGGCTACGCTCGACTGGTGCAACAGACCATCCTGTGCCATCAG___AATCCAGTGACTGGCTTGCTTCCAGCCAGCTATGATCAGAAAGATGCTTGGGTCCGAGATAATGTGTACAGCATCTTGGCTGTGTGGGGTTTGGGCCTGGCCTATCGGAAGAATGCAGACCGGGATGAGGATAAGGCAAAGGCCTATGAATTGGAGCAG___AGTGTAGTGAAGCTGATGAGAGGACTACTGCACTGCATGATCAGACAG___GTGGATAAAGTAGAATCCTTCAAATATAGTCAGAGTACTAAGGATAGCCTCCATGCAAAGTACAACACCAAAACCTGTGCCACTGTAGTGGGTGATGATCAATGGGGACACCTGCAGTTGGATGCTACCTCTGTGTACCTGCTCTTCTTAGCCCAAATGACTGCCTCAG___GACTCCATATCATCCACAGCCTAGATGAAGTCAATTTCATACAGAACCTTGTGTTTTACATTGAAGCTGCATATAAAACTGCT___GACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAG___GCAGCCCTGGAAGCATTAGATGAACTGGATCTGTTTGGTGTGAAAGGTGGGCCTCAATCAGTTATCCATGTCCTGGCTGATGAAGTACAGCACTGCCAG___TCTATCCTAAATTCACTACTGCCCCGTGCTTCAACATCAAAAGAGGTTGATGCTAGTCTACTCTCAGTGGTTTCCTTCCCTGCCTTTGCAGTAGAGGATAGCCAGTTGGTGGAGCTCACAAAACAGGAAATCATCACCAAGCTTCAG___GGTCGTTATGGTTGCTGTCGCTTTCTACGAGATGGATATAAAACTCCTAAAGAG___GATCCCAATCGTCTGTACTATGAACCAGCTGAGCTGAAGCTATTTGAAAACATTGAGTGTGAATGGCCATTGTTCTGGACATACTTTATTCTTGATGGGGTCTTCAGTGGCAATGCAGAACAG___GTTCAAGAATATAAAGAGGCT)CTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGG___GTCGATGAAGAATATCAGAATCCTCACACTGTGGACCGAGTCCCCATGGGGAAATTGCCTCACATGTGGGGTCAGTCTCTATACATTTTAGGAAGCTTGATGGCAGAG___GGATTTTTAGCCCCTGGAGAAATTGATCCCCTGAATCGCAGGTTTTCTACTGTACCGAAGCCCGATGTTGTGGTTCAAG|TAGAGACGCGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCGTCCAACTCAGCCTACCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGACTGGTAGGAAAAATGTTTAATTGACTCACAGTTtGGCATGGCTGGGGAGACCTCAGGAGTCTTACAATCATGGCAGAAGATGAAGGAGAAGCAAGGCACCTTCTTCACAAGGTGGCAAGAAGGAGAATGAACACAGGAAGAGAAACCAAACTCTTATAAAACCATCAGATCTCATGAGAGAAACCAAAAACTTATAAAACCAT MRSRSNSGVRLDGYARLVQQTILCHQNPVTGLLPASYDQKDAWVRDNVYSILAVWGLGLAYRKNADRDEDKAKAYELEQSVVKLMRGLLHCMIRQVDKVESFKYSQSTKDSLHAKYNTKTCATVVGDDQWGHLQLDATSVYLLFLAQMTASGLHIIHSLDEVNFIQNLVFYIEAAYKTADFGIWERGDKTNQGISELNASSVGMAKAALEALDELDLFGVKGGPQSVIHVLADEVQHCQSILNSLLPRASTSKEVDASLLSVVSFPAFAVEDSQLVELTKQEIITKLQGRYGCCRFLRDGYKTPKEDPNRLYYEPAELKLFENIECEWPLFWTYFILDGVFSGNAEQVQEYKEALEAVLIKGKNGVPLLPELYSVPPDRVDEEYQNPHTVDRVPMGKLPHMWGQSLYILGSLMAEGFLAPGEIDPLNRRFSTVPKPDVVVQ|vetrfhhvgqaglelltl* 01BR043 ENSG00000104880.18 ENSG00000236993.2(58289),ENSG00000270541.1(19912) +/+ ./+ chr19:7453715 chr10:55726639 CDS/splice-site intergenic translocation 5 1 0 49 7 high out-of-frame . PH_domain(100%),RhoGEF_domain(100%)| . . ENSG00000104880.18 . ENST00000319670.13 . downstream upstream duplicates(1) ^(CTCGCGCGGCTTCCCGCTTCCGGCTCCCAGCTGCTAGCTACTGTGGATCTGGGGGGGCCGGACGGAGGCATCGGAGGCGGCTGCGAGAGTGGCAGAGGAGCTGGCGGAGAGCGGCCTGCGGGCGATCGGGCCGAG___CCTCGCTCAAGGAGCACCCCCGGGGCACCCTCCTGTCCGATGGCAGCCCGGCCCTGTCCAGGAATGTCGGTATGACGGTCTCTCAGAAAGGGGGTCCCCAGCCAACACCGAGCCCGGCTGGCCCTGGGACGCAACTCGG___ACCAATCACAGGAGAGATGGATGAAGCCGATTCTGCGTTTTTAAAATTTAAGCAGACAGCTGATGACTCTCTGTCCCTTACATCTCCAAACACCGAGTCCATTTTTGTAGAAG___ATCCCTACACCGCCTCGCTGAGGAGTGAGATTGAGTCAGACGGCCACGAGTTTGAAGCTGAGTCCTGGAGCCTCGCCGTGGATGCAGCCTACGCCAAGAAGCAAAAGAGGGAGGTGGTGAAAAGACAAGATGTCCTTTATG___AGCTGATGCAGACAGAGGTGCACCACGTGCGGACGCTCAAGATCATGCTGAAGGTGTACTCCAGGGCCCTGCAGGAGGAGCTGCAGTTCAGCAGCAAGGCCATTGGCCGCCTCTTCCCATGCGCTGACGACCTGCTGGAGACGCACAGCCACTTCCTCGCTCGGCTCAAGGAGCGCCGCCAGGAGTCCCTGGAGGAGGGCAGTGACCGGAATTATGTCATCCAGAAAATCGGCGACCTCCTGGTTCAGCAG___TTTTCAGGTGAAAATGGGGAGAGAATGAAAGAAAAGTACGGTGTGTTTTGTAGTGGCCACAATGAAGCTGTTAGTCATTACAAGTTGCTGCTTCAGCAAAACAAGAAATTTCAAAACTTGATCAAG___AAAATTGGCAACTTCTCCATCGTGCGGCGGCTTGGCGTGCAGGAGTGCATTCTCCTGGTTACACAACGCATAACCAAATACCCAGTGCTGGTGGAGCGCATCATCCAGAACACGGAAG___CTGGCACTGA)GGACTATGAAGACCTGACCCAGGCCTTGAACCTCATCAAAGATATCATCTCACAAGTGGACGCCAAGGTCAGTGAGTGTGAGAAGGGCCAGCGCCTCAGGGAGATCGCAGGGAAGATGGACCTGAAGTCTTCCAGCAAACTCAAGAACGGGCTCACCTTCCGCAAGGAAGACATGCTTCAGCGGCAGCTCCACCTGGAGGGCATGCTATGCTGGAAGACCACATCAGGGCGCTTGAAAG|TGGGAGATTAAGACACAAGACAACACACAAACTGAGGGGAAACCATATGTGAACACAGGAAAGAAGACAGCCATCTTCAAGGCAAAAAAGAGTCCTCAGGAGAAACTGTATCAGCAG MTVSQKGGPQPTPSPAGPGTQLGPITGEMDEADSAFLKFKQTADDSLSLTSPNTESIFVEDPYTASLRSEIESDGHEFEAESWSLAVDAAYAKKQKREVVKRQDVLYELMQTEVHHVRTLKIMLKVYSRALQEELQFSSKAIGRLFPCADDLLETHSHFLARLKERRQESLEEGSDRNYVIQKIGDLLVQQFSGENGERMKEKYGVFCSGHNEAVSHYKLLLQQNKKFQNLIKKIGNFSIVRRLGVQECILLVTQRITKYPVLVERIIQNTEAGTEDYEDLTQALNLIKDIISQVDAKVSECEKGQRLREIAGKMDLKSSSKLKNGLTFRKEDMLQRQLHLEGMLCWKTTSGRLK|vgd* 01BR043 ENSG00000268861.7 ENSG00000236993.2(58289),ENSG00000270541.1(19912) +/+ ./+ chr19:7453715 chr10:55726639 CDS/splice-site intergenic translocation 5 1 0 49 7 high . . . . . ENSG00000268861.7 . ENST00000668164.1 . downstream upstream duplicates(1) ^(TACCAGTGTGAAGCGCAGGCTGAGCTGCCTCCGCAGTCGAGTGACCAGGCAGAAGGAGAAG___GGGAAGAGCCCAGCACATCTGAAGGACAAGGGCCAGGATGCACGAGAGAGGCGGGAGTGTGTCAATGGGCACCAGCTGTTGCAAGGGACCTTCTCCGGCCCCTCCAGCTGCCCCCTGTGTGGCAAACCTTTCTTGAGCTCAG___CCTCGCTCAAGGAGCACCCCCGGGGCACCCTCCTGTCCGATGGCAGCCCGGCCCTGTCCAGGAATGTCGGTATGACGGTCTCTCAGAAAGGGGGTCCCCAGCCAACACCGAGCCCGGCTGGCCCTGGGACGCAACTCGG___ACCAATCACAGGAGAGATGGATGAAGCCGATTCTGCGTTTTTAAAATTTAAGCAGACAGCTGATGACTCTCTGTCCCTTACATCTCCAAACACCGAGTCCATTTTTGTAGAAG___ATCCCTACACCGCCTCGCTGAGGAGTGAGATTGAGTCAGACGGCCACGAGTTTGAAGCTGAGTCCTGGAGCCTCGCCGTGGATGCAGCCTACGCCAAGAAGCAAAAGAGGGAGGTGGTGAAAAGACAAGATGTCCTTTATG___AGCTGATGCAGACAGAGGTGCACCACGTGCGGACGCTCAAGATCATGCTGAAGGTGTACTCCAGGGCCCTGCAGGAGGAGCTGCAGTTCAGCAGCAAGGCCATTGGCCGCCTCTTCCCATGCGCTGACGACCTGCTGGAGACGCACAGCCACTTCCTCGCTCGGCTCAAGGAGCGCCGCCAGGAGTCCCTGGAGGAGGGCAGTGACCGGAATTATGTCATCCAGAAAATCGGCGACCTCCTGGTTCAGCAG___TTTTCAGGTGAAAATGGGGAGAGAATGAAAGAAAAGTACGGTGTGTTTTGTAGTGGCCACAATGAAGCTGTTAGTCATTACAAGTTGCTGCTTCAGCAAAACAAGAAATTTCAAAACTTGATCAAG___AAAATTGGCAACTTCTCCATCGTGCGGCGGCTTGGCGTGCAGGAGTGCATTCTCCTGGTTACACAACGCATAACCAAATACCCAGTGCTGGTGGAGCGCATCATCCAGAACACGGAAG___CTGGCACTGA)GGACTATGAAGACCTGACCCAGGCCTTGAACCTCATCAAAGATATCATCTCACAAGTGGACGCCAAGGTCAGTGAGTGTGAGAAGGGCCAGCGCCTCAGGGAGATCGCAGGGAAGATGGACCTGAAGTCTTCCAGCAAACTCAAGAACGGGCTCACCTTCCGCAAGGAAGACATGCTTCAGCGGCAGCTCCACCTGGAGGGCATGCTATGCTGGAAGACCACATCAGGGCGCTTGAAAG|TGGGAGATTAAGACACAAGACAACACACAAACTGAGGGGAAACCATATGTGAACACAGGAAAGAAGACAGCCATCTTCAAGGCAAAAAAGAGTCCTCAGGAGAAACTGTATCAGCAG . 01BR043 ENSG00000057294.15 ENSG00000156140.10 -/- -/+ chr12:32896509 chr4:72450278 CDS/splice-site intron translocation/5'-5' 4 2 0 312 6 high out-of-frame . . . . ENSG00000057294.15 ENSG00000156140.10 ENST00000340811.9 . upstream upstream duplicates(1) ^(GCGAGTCCAG)AGGCAGGCGAGCAGCTCGGTCGCCCCCACCGGCCCCATGGCAGCCCCCGGCGCCCCAGCTGAGTACGGCTACATCCGGACCGTCCTGGGCCAGCAGATCCTGGGACAACTGGACAGCTCCAGCCTGGCGCTGCCCTCCGAGGCCAAGCTGAAGCTGGCGGGGAGCAGCGGCCGCGGCGGCCAGACAGTCAAGAGCCTGCGGATCCAGGAGCAGGTGCAGCAGACCCTCGCCCGGAAGGGCCGCAGCTCCGTGGGCAACG|ATGCACTGAACGGTACAATTGCCTTCGTGGTCATAAGTATGCTCCAGGAGCCACATGGCCAGGCTCTGGCACCATGGAAGAGCATGCAAGGCACCCCTCTGCTAGAAAACAGACATTCCAGTGTTTCTCAG___CATATATACTTCATGAAGGCAGAAGATTTTATCTGTTCTCTTCACCTCATcTCCCC MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQVQQTLARKGRSSVGN|dalngtiafvvismlqephgqalapwksmqgtpllenrhssvsqhiyfmkaedficslhlis 01BR043 ENSG00000073712.15 ENSG00000198554.12 -/- -/- chr14:52950412 chr14:55010460 CDS/splice-site CDS/splice-site duplication 3 2 0 228 39 high out-of-frame . |Anaphase-promoting_complex_subunit_4_WD40_domain(100%),Minichromosome_loss_protein__Mcl1__middle_region(100%),WD_domain__G-beta_repeat(100%) . . ENSG00000073712.15 ENSG00000198554.12 ENST00000341590.8 ENST00000360586.8 upstream downstream duplicates(1),mismatches(1) ^(ATTAGCCGCTCCGGCCACAGGCAGCG)CTTCGCCAGCCGAGGAACCGGACGCGGACACCGCCGCCCCGCGAGCCTCaAGCCCCTCGCCTGTgGCCGCGCGAGaCCCGGGCCCGGAGCGCTAGGAGCGCGCG___GAAGGAGCCATGGCTCTGGACGGGATAAGGATGCCAGATGGCTGCTACGCGGACGGGACGTGGGAACTGAGTGTCCATGTGACGGACCTGAACCGCGATGTCACCCTGAGAGTGACCGGCGAGGTGCACATTGGAGGCGTGATGCTTAAGCTGGTGGAGAAACTCG|AGTGGAAAACTGGTCACTGCAGTTTCTAATAATACTATTCAAGTCCACACATTTCCTGAAGGAGTTCCAGATGGTATATTGACTCGCTTCACTACAAATGCAAACCATGTGGTCTTTAATGGGGATGGTACTAAAATTGCTGCTG(GATCTAG___TGATTTTCTAGTCAAAATTGTGGATGTGATGGATAGCAGCCAACAGAAAACATTTCGAGGACATGATGCCCCTGTTTTAAGTCTTTCCTTTGATCCTAAGGACATCTTTCTG___GCATCAGCTAGTTGTGATGGATCTGTCAGAGTGTGGCAAATTTCAGATCAG___ACATGTGCTATTAGTTGGCCACTGCTACAAAAATGCAACGATGTGATAAATGCAAAATCAATCTGCAGACTTGCTTGGCAGCCAAAAAGTGGGAAG___TTACTGGCAATTCCTGTGGAAAAATCTGTTAAGCTATATAGAAGAGAATCTTGGAGTCATCAATTTGATCTTTCAGATAATTTCATCTCTCAG___ACCCTCAATATAGTAACCTGGTCTCCCTGTGGGCAATATTTAGCTGCAGGTAGTATTAATGGTCTAATCATAGTTTGGAATGTGGAAACCAAAGACTGCATGGAAAG___GGTGAAACATGAGAAAGGTTATGCAATTTGTGGTCTGGCATGGCATCCTACTTGTGGTCGAATATCGTATACTGATGCGGAAGGAAATCTAGGGCTTCTAGAGAATGTTTGTGACCCCAGTGGAAAGACATCAAGCAGTAAG___GTATCTAGCAGAGTGGAAAAGGATTATAATGATCTTTTTGATGGAGATGATATGAGTAATGCTGGTGATTTTCTAAATGACAATGCAGTTGAGATCCCTTCTTTTTCAAAAGGGATTATAAATGATGATGAGGATGATGAAGACCTCATGATGGCTTCAGGTCGTCCTAGACAGCGAAGTCACATCCTAGAAGATGATGAAAACTCAGTTG___ATATTTCAATGCTAAAAACTGGTTCTAGTCTTCTCAAAGAGGAGGAGGAAGATGGTCAAGAAGGCAGCATTCACAATCTACCACTTGTAACATCCCAAAGGCCATTTTATGATGGACCCATGCCAACTCCCCGGCAAAAGCCATTTCAGTCAGGTTCTACACCGTTGCATCTCACTCACAGATTCATG___GTGTGGAACTCTATTGGAATTATTCGCTGCTATAATGATGAGCAAGACAATGCCATAGATGTGGAGTTCCATGATACCTCCATACACCATGCAACACACTTATCAAACACTTTGAATTATACAATAGCAGATCTTTCCCACGAAGCTATTTTGTTGGCATGTGAAAGCACTGATGAACTAGCAAG___CAAGCTTCACTGCCTGCACTTTAGTTCTTGGGATTCAAGCAAAGAGTGGATAATAGACTTGCCTCAGAATGAGGATATTGAAGCCATATGTCTCGGTCAAGGATGGGCTGCTGCCGCTACTAGTGCCCTGCTTCTTCGATTGTTTACTATTGGAGGGGTTCAAAAAGAGGTATTCAGCCTTGCTGGACCTGTGGTGTCAATGGCAGGACATGGAGAACAGCTTTTCATTGTTTATCACAGAG___GTACAGGATTTGATGGGGATCAGTGCCTTGGAGTTCAACTGCTAGAGCTGGGGAAAAAGAAAAAACAAATTTTGCATGGTGACCCTCTTCCTCTTACAAGGAAATCCTACCTTGCATGGATTGGGTTTTCAGCTGAAG___GTACCCCTTGTTACGTGGATTCAGAAGGAATTGTTCGAATGCTTAACAGAGGACTTGGTAATACGTGGACTCCTATATGTAATACAAGAGAGCACTGCAAAGGAAAATCTGATCACTACTGGGTGGTTGGTATCCATGAAAATCCCCAGCAACTAAG___GTGCATTCCTTGTAAAGGTTCTCGGTTTCCCCCAACCCTTCCACGCCCTGCTGTTGCTATATTATCCTTTAAGCTTCCTTACTGTCAGATTGCAACAGAGAAAGGACAAATGGAG___GAGCAATTTTGGCGTTCAGTTATATTTCACAACCACCTTGATTATTTAGCTAAAAATGGTTATGAATATGAAGAGAGCACTAAAAATCAAGCAACAAAAGAGCAACAGGAACTTTTAATGAAAATGCTTGCG___CTTTCTTGTAAACTGGAGCGAGAATTCCGTTGTGTGGAACTTGCTGATCTAATGACTCAAAATGCTGTGAATTTAGCCATTAAATATGCTTCTCGCTCTCGGAAATTAATACTGGCTCAAAAACTAAGTGAACTGGCTGTAGAGAAGGCAGCCGAATTGACAGCAACCCAGGTGGAAGAGGAAGAAGAAGAAGAAGATTTCAGAAAAAAGCTGAATGCTGG___TTACAGCAATACTGCTACAGAGTGGAGCCAACCAAGGTTCAGAAATCAAGTTGAAGAAGATGCTGAGGACAGTGGAGAAGCTGATGATGAAGAAAAACCAGAAATACATAAGCCTG___GACAGAACTCGTTTTCCAAAAGTACAAATTCCTCTGATGTTTCAGCTAAGTCAG___GTGCAGTTACCTTTAGCAGCCAAGGACGAGTAAATCCCTTTAAG___GTATCAGCCAGTTCCAAAGAACCAGCCATGTCAATGAATTCAGCACGTTCAACTAATATTTTAGACAATATGGGCAAATCATCCAAGAAATCCACTGCACTTAGTCGAACTACAAATAATGAAAAGTCTCCCATTATAAAGCCTCTGATTCCAAAGCCGAAGCCTAAGCAG___GCATCTGCAGCATCCTATTTCCAGAAAAGAAATTCTCAAACTAATAAAACTGAGGAAGTGAAAGAAGAAAATCTTAAAAATGTATTATCTGAAACCCCAGCTATATGTCCTCCTCAAAACACTGAAAACCAAAG___GCCAAAGACCGGGTTCCAGATGTGGTTAGAAGAAAATAGAAGTAATATTTTGTCTGACAATCCTGACTTTTCAGATGAAGCAGACATAATAAAAGAAGGAATGATTCGATTTAGAGTATTGTCAACTGAAGAAAGAAAG___GTGTGGGCTAACAAAGCCAAAGGAGAAACGGCAAGTGAAGGAACTGAAGCAAAGAAGCGAAAACGTGTGGTTGATGAAAGTGATGAAACAGAAAACCAGGAAGAAAAAGCAAAAGAGAACCTGAATTTGTCTAAAAAGCAGAAACCTTTAGATTTTTCTACAAATCAGAAACTATCAGCTTTTGCATTTAAGCAGGAGTAAAGGAAGAAAGTGACCCTAGGGAAGTAATGGATTTTTTTTTACTCATCTTTGAATATAGACTCGAGTCTTTGGGAAACTCATTATATATATATTTTTTAAAGAGTTTGAAGCAACTGTTTGTCTTTATAAGATAATGTAGTAATTATATTGGTGTAGGTAACAGGACATATGTAAAAACTATCATCTTTGCAGATTACTCTGCCTCCAAATGCAGGGCCTTTCAGAGATGCATTGTGATTGTAATTACTGAGTTGAAGCTCCAACCAATTTGAATTTGTTTCTTAACCTTGAAAAATCATTAAAGCCAAGGTATTAAAACCTTTGTGCATTAATACCTTCTAGGGGTTTGGTTCATTTGGTTTTTGTCATGTGCAAGGAAGGACAATAGTCCTCTTTCCAAGTGTGTTAGCATAGACTTCTCTATATGTTTCTACTAGACCTAGGGGATGACGTCTTTTAATAATACTGGCCCTAAACATGTAAATAATCTTGTAGGTGAGACTTTTTCTTTTGTGTTTCGGAAATTTCCTATGTGGCTTTCAGTTGTCTGTTTGTATAGCCTGGATTTTTTTGAGGTAAATGAAACTTTCTCATTTGTATATTTGGCTTGATATGGTCTTAATATTATCTTTCCACGAAATGGATATATTTCTAGAAAATATATATTTACTACCATAATTTCTACCACCACCCCCATTTTGCTCTGCATTATACACAGTAGAGAAGAACTGAAGACACTGCTGTGACAGTATTGCAGTCCAAGGCATCATGTGCTCTTGGTGGGATACTCTGATTATCAGCATCAACAGTACTTTACTGAGCAAGACTTTGAAGGCCTGAGAAGAGAGCAAAGTTATGGAAAGTATTTAACTCTTATTTTATATTGAACAAACAAGGTTTAATCATGTCATACATTTTTGGTTTTCTAAGCAGAGACTAATACAAATGCAGCCACATAAAGGCAGTGTACTGGGGGTGGGAGGGAAGGAAACAATCACATAAAATCAGCTGACTCAAAATTGAGGATAGTTAATAGGTTGAAAGGGAAAAAGTATGTTGAAAATTTAGACATAAATGAACCAAGAATATTCCTTATCTGGTGATGATTAAAGTTAGGAAAACATACATTTTTTATTTTTTAATTAGTAGCTGCTATCAGAGACATTATAGCACAGTGGTTATGAGCACAGATTCCAAAGCCAGATTACCTAGGTTCGGAGACCCGCTTCTCTACCTACTACTAATAGTTGGGTCATGTTGGGCCGGTGACCCAAATTCTAGCCTTCATTCACTCATCTGTAAAATGGATATAATGATAGTACCTACTTTATAGGTTGTTATGAGAATTGAATGAAATGAAAGCCCTTAGTTTCTGACACATAGTAATCTTTTATATAAATGTTAGTTACTATTCTGATAATGATGATGCTGTTGGTTATTTCATCTTGCTTTGTCATTAGGTTTGATTCTGAATACTATACAAACTAATTTTGATTTCAAGATCTTAAGTAAAGGTTTATTTATAGTACATTGGAAAGCATGTTTGTAGACATGTATTTTGTGTTTGGTTCCTCAACTTGCTTTGTATATATTTTATAATACTAGGTTGATATAAAAGTAAATGCAGTTTCGCCATTTCAGTGGCAAAAACCGCGATTTCTTTTGTGCCAACCTAATGCTTAAGGATATAATCTGTGTATATTGTATTTCAGATTCATAGCAACCTAATAACAAGGATTTACAAAAGGGTTTTTACTTCCCTACTTTTTTTTGGCTGAAGGAAGGTTTTTGTATTGACTTGGTTTAACTTACAAATCAGAACTTTGAAACCAAGAAACATTATCCTTATTTCTCTGCTATATAATAGTAAACCTGTTTTTTTCCAGTGTTCTTTTTTTTTTTTCCAGAGAATTGGGACTGAATAGTATGAAAGTGAAAATGGAAATAAATTAATTATTAATCATCATCATATCAATAATATTGCCTACTTGAGCTTATTGTATACTATAGAAAATTGACATATACTTAATTTTATTCTCCAAAAGCAAAAACTCCTCACAGGAGGTTACTTTACAGATTTATTTTGGAGAACAAGTGAATAGGCACTGGGGTTATGTGCAGCTCTGGGGACTGTGCTATGATCTAAAGCCTCTCATATCTGTGCAGCAACCTGGGGTGAGTCACTGTCACTAACATGGAACAGATGCCAGGTAGTCCCTTTGGACAAAAGGATGAGGCCCATCCATGTAGAAAGCATCTTAATCAGTGACTGTCTTATGGGCCCTCTTTGTTTCCCATCTGTTTTATTATCAGAATATATAATTTTCCCCCAAGTTTTCATCTTGAATCTCTCAAACCTACAGAAAATTTGAAATTTGACAGTAAGCACCTGTATATCCTTCCTCTAGTTTGTCTTATTGTTGACATTTTATCATGTATGCTTTATAGACAGGATTTTTCCTGAACCATTTGGAATATGCATATACTTCATCCCTCAGTTCCCAGCATGTACCCTAAGAATAAAGATTTTCTTCTGCATAA)$ MALDGIRMPDGCYADGTWELSVHVTDLNRDVTLRVTGEVHIGGVMLKLVEKL|ewktghcsf* 01BR043 ENSG00000119698.12 ENSG00000267374.2 +/+ -/- chr14:94176127 chr18:39208789 CDS/splice-site exon/splice-site translocation 2 2 0 13 37 high out-of-frame . . . . ENSG00000119698.12 ENSG00000267374.2 ENST00000304338.8 ENST00000660099.1 downstream downstream . ^(CTTGCTCCCGCCGCCTGGCAGCCTCACGCTCGGCTCCAGCGGCCAAGAGCCGGAGAAAGTCCTGCTGGTGGGCGGCCGCGGGGCTGAGGGCGTCCGGCATCCCGGGGCCG)CTCCGGCCCGGGCGGCGAGAGTGCCCGGCGGTCCATGCATCCGCCGCCGCCCGCCGCCGCGATGGATTTCAGTCAGAACAGCCTGTTCGGTTACATGGAGGACCTGCAGGAGCTCACCATCATCGAGAGGCCGGTCCGCCGGAGCCTCAAG___ACACCGGAAGAAATAGAAAGATTGACAGTCGATGAAGACCTCAGTGATATTGAAAGGGCTGTTTATCTGCTCAG|GGGTACAAGCAATTTTCCAGTCTTGACCCTTTATCTGTTGACCAAGCTAAGGCAGAAACCAGCTAAATTCTGGATTTAATCTTGAGCAGCAAAAAAGATCAGCTTTTGAAGTGGATCTGCTTTTATTCTTGGCAAAAGTTCAGCGGAGACCAACCAGAGTGGTGACAAAGTTCTTCAACATCAAGC(CAAAT___AAAGAGACCTCAAGTAAACCTCCAGCAGCCATCTGGACTTCCATGAAAACAGAACAATCAGTGAGATGCAGAGCTTGGAGGAGACAGTTTCCATAGACTGAAGCACGTGCTGAAGCAAAGTTCACACTTGCAGGATTAGAAGAGGTTGACCGAAAGAAGGAAGGACATGGACAGCTATGTTGTTGTGGAGTCCTGTTTTATAGTCATAACCTTGAGTCAAGTGAGTTTGTCTGGACAGACAGAGCTTGTTGCCTTTACTTATAGGGAAGGCACCGGACACAGACAGCCTCAAGGACATTTGTTCTAGCCTTTCAGTATCCTTTCTCTTAATTATCTCACCTCATCCATGAAGCTGGTATGTACGATTTTTCCTTTCTTTCTCAATCCTTTAAAAAATTAAAGCTCTAAATCTCATTTCCACTTAGATTTTAATGTTGCATTGTAACTTAAGATAAAACCTTGCTCTGATGTTAAAAATACTAAAGTAAGAAGCAATATGGCATAGTGCTTATGAGCAGGACTACATAGTTCTTTCTGAATACAAATCTCAGATAAAACACTATCTCAGTGATCAACCAGGTTAAGCAACCTTTTTAGTGCCTCAATTATTCCATTTGTAAAATTGTAATAATGATAGTACTAACCTATAAGATTGTGGTGAGGATTAAGTCAGATAATACAAAAGAAGCATTTAGAGTATTTCCTGGCATTATCTACCATTTATTGAATTTTTATGGTTAAGAAGAATAAGGAAAAGCAGAAGAAAAGGAAAAGAGAAAAAATACATAAGAAGAAGGAAGAGTGGTAAGCTCTAGTAAATTACAACAAACGGTAACGTAGAAAACATTTGTTAGCCCTTAATATAGGCCAGGCACTGTGTTCAATGCTTAAACCTCATTACTGTTCTTTGAAGTGGATAACATTATTCCTTCCATTTTAAAGAAAGGAATACTAAAGACAACTTTGTCAATATTATTCATGTAATAAATGACAGAATTTGACCAAGACAATAGAGAA)$ MHPPPPAAAMDFSQNSLFGYMEDLQELTIIERPVRRSLKTPEEIERLTVDEDLSDIERAVYLLr|gtsnfpvltlylltklrqkpakfwi* 01BR043 ENSG00000257636.6 ENSG00000197555.9 -/+ +/+ chr14:30485240 chr14:71709222 intron CDS/splice-site deletion/3'-3' 2 1 0 2 53 high . . |C-terminal_domain_of_SPAR_protein(100%) . . ENSG00000257636.6 ENSG00000197555.9 . ENST00000555818.5 downstream upstream . GCAGGGTATTTTGATGGTATTTTCAGGAAGCTAGCATTCAGCAGTCTTGGAGTTTCCCCCAGTGTATGACCAAGACCTGCTCCCTGCAGTGGCTCTCCACAAAGAACAGAGTGTTCCTCAAAGGCCACTTGAAACTCTTCCTCAGATATCTCCATGACAATAGTAGTGAG|TCTGATAGCCACTACTCGAGCCACTCCAGTAGCAATACTCTCTCCAGCAATGCGTCAAGTGCCCATAGTGATGAGAAGTGGTACGATGGGGACCGCACAGAATCCGAACTCAACAGCTATAACTcTCTGCAAGGCACCTCTGCTGACAGTGGCATTGACACCACCTCTTATGGCCCCAGCCACGGCAGCACAGCCTCGCTGGGGGCTGCCACATCGTCACCTCGCTCAG(GGCCAGGCAAGGAGAAAGTGGCACCCCTATGGCACAGCTCCAGTGAAGTAATCTCCATGGCAGATCGGACTTTGGAGACAGAGAGCCACGGCCTGGACCGGAAAACAGAGTCTTCCCTGAGCTTAGACATACACAGCAAGAGCCAAGCCGGCTCGACCCCTCTGACAAGGGAGAACAGCACCTTCAGTATAAACGATGCTGCTTCCCACACAAG___TACCATGAGCTCCCGACACTCTGCCAGCCCAGTGGTTTTCACCAGTGCCCGGAGTTCACCTAAAGAAGAGCTTCATCCAGCTGCCCCCTCACAGCTCGCACCATCCTTCTCCTCCTCTTCCTCCTCCTCCTCTGGTCCTAGGAGTTTTTACCCTCGCCAGGGCGCTACTAGCAAGTACCTGATTGGATGGAAAAAACCCGAAGGAACCATAAACTCCGTGGGATTTATGGACACGAGAAA___GCGTCATCAGAGCGATGGCAATGAAATAGCCCACACCAGGCTGCGTGCCTCAACCAGAGACCTCCGGGCATCTCCTAAGCCAACCTCCAAGTCCACCATTGAAGAAGATCTAAAGAAACTAATTGATCTTGAAAGCCCAACTCCTGAATCACAGAAGAGTTTTAAG___TTCCACGCACTCTCCTCTCCTCAGTCTCCTTTCCCCAGCACCCCCACCTCACGGCGGGCCTTGCACAGAACACTGTCGGACGAGAGCATTTACAATAGCCAGAGGGAGCACTTTTTCACCTCCAGGGCGTCACTTCTGGACCAAGCCCTGCCCAACGACGTCCTCTTCAGTAGCACGTACCCTTCTCTCCCCAAGTCGCTCCCGTTGAGGAGGCCTTCTTACACCTTAGGAATGAAATCGCTGCATG___GAGAGTTCTCAGCCTCGGACAGCTCCCTCACTGACATCCAGGAGACCCGCAGGCAGCCTATGCCCGACCCTGGCCTGATGCCCCTGCCTGACACTGCTGCAGACTTGGATTGGTCCAACCTGGTAGATGCTGCCAAAGCCTATGAGG___TCCAGAGAGCCTCATTTTTTGCTGCTAGTGATGAAAACCATCGCCCCTTGAGTGCTGCATCCAACAGTGATCAGCTGGAGGACCAGGCTCTGGCCCAGATGAAGCCTTACAGCAG___CAGTAAAGACTCCTCTCCCACTCTGGCTTCTAAAGTGGACCAGCTGGAAGGTATGCTGAAGATGCTTCGGGAAGATTTGAAGAAG___GAAAAAGAAGACAAAGCTCACCTTCAGGCGGAGGTGCAGCACCTGCGAGAGGACAACCTGAGGCTACAGGAGGAGTCCCAGAACGCCTCGGACAAGCTGAAGAAGTTCACAGAATGGGTCTTCAACACCATAGACATGAGCTAGGGAAGGCTGAGGAGGACAGGAGAAGGGCCCAGACACTCCCTCCAGTGAGTGTCCTGCAGCCCTTATTCCCTCCATAGAAAGCATCCTCAGAGCACCTTCCCTGGCTTCCTACTCTGCCCCCTTTCGGGGAGTGCACAACACAATAGTTGCAGATCAACAATCATCACCTGCCTTTTGTAGAAAAGAAAAACAAAAAAAGTAAATAAAAATTTTAAACAGTAAAATAAAAGTTTAACTGCTAAAATGTGAATGTCTTTATTTTTTTGCACAATATCTTTATCTGTTATGTATTTAAGAAGAAACTGGGCCTTGGACCAGGGCGCCCCCTGGCCCATCCGCCTCTATTCCCATCAGCTTTCTTATCAACTTCAGGTAACCCAAGCTTTCCCTTGTTATTCTAACAAATATCATTATTCCTAGAAAAAGAATGTTTTTATAACTTGTTTGGGGAGTAGAGAGGGATATTTCCTTACCTTCTTCCCTAAAATGCCTGGAGAGGGAGTTGCTTTGAGAAAATGCCTACCTCCCTTGAATGACTCGTGCATGAGCTAGTGCTGTCTGTACCTGTCCTCCAGAGATCAGCAGGACCGGAGTTAAATATTTAACAGCAAGTCTGTAAACCAGAGCAGCTCTGACAGTGCCTGCAGGCCACACCCCTTCTCAGTCCTGCATTGTGAGGTCATTTCCTGCTTCTCCCTTTCCCCAGGAAGATGGTCCCACTTGTGCTGCAAGACTCTTTTTTGTTTGGCTTAATTGAGCCCCACTAAATTGGAATCAATCTCTCTTACAGCTTCCTGGCTCCAAACATTAATTGATTTCAGAATTCCCCCAAACTAAAACCTTATCTGTCTGCATTTTGAATGCATTTTGGTCAAAAGTATACGTTTTAAAGATTTTTAAAGATAAAAATGTGGCACAACTGGTTTTTTTAGCTTGCTGAAAATGACCATATCTCTAAATTAATCTTTCTCTCCAGAGCAAGACTTCACCAGTATTTGTAACTAGGAGAAGCTAACAGTGAATGTTTAATTGTGAATTTTAATCATTGCTTGTTAGGAATAATGACTGTGATACTAGAATGGGCTTTTGAAACCTGCATGTCCCAGTGTGAAATTTCAGCACGGCATTTTCTGCATCCTTTCATGGCCATCCAAAGGATTCCGCTGCAGAAATTATTGATGTGCTATTTTTGCTGTCTTGTGATGCAGGCTGCTTTGGGCCCCTGGGTCACTCTTCCAAGGCTGCTGTAGAGCACAGAGACATGGGGCTGGCCAGTGTTGACTGACCTGAGGAGACCCCTTTGTTTGTTGCCTTCATAACTGTCACTAAACCGACCCCTCTGCCCTTTCAGTGGCAACTCTGGTCTAAGGGAACATTCAGCACTCTAGCGGCATCTGATTGGAAGTTCCCTCACCCAAGTAATCTCAATTCCTTCCTCTCTCCATCCCTGAAAGAAACAGGATGGATTTTCCTCTCTTCTCCCTGCTACATTCACTACCAGATTTTTATGCTACAGTTTCATTCTTGATTGTGATTTCTCCATGGAATTTTTTTTTTCTGGTGACATTTCTATCATGGAAATAGGAAGATTTCGGAGTGCTTTGTGAAGATTTCAATTGTCTGTCTCTTTCTCTCTTTGACTTGTATGAAGGAGATTGTACATTGCCTGATATCTCTTTGTAAATGAGAAATATTGCTAACATCCAAGCATTCTGAAGTCTTGCTTATCCTTCTGAGTTTAGTTCTCATTTTGTTTTACATTTTGTTTGGGGACTTGGGGCAAGCTATTTATTAGAGTTTTGCAACAGAGTTCTTGTTTGAAGCCTCTAAAGACTACCTGTAAAATTCAAAGAATAAAATTCATTTTAAACGCTCTTTTAAAACACTTTGGTATTATTGCTTGAGGTTTGCTTATTTGAAAGACCACCCAATAACTCATTGACCCTCCTTGCATCCGAATTTTTTCATCAAGCTTTGTTAACACTAATGATGATTCTTGAAAATTTCTGTCCTTCTCAGAATGTTAATAAACTTTTTTACTCTGTCCACATGTCGATAGAGAATTACT)$ . 01BR043 ENSG00000104880.18 ENSG00000249860.4(61742),ENSG00000236993.2(4871) +/+ ./+ chr19:7453715 chr10:55662470 CDS/splice-site intergenic translocation 1 2 0 49 4 high out-of-frame . PH_domain(100%),RhoGEF_domain(100%)| . . ENSG00000104880.18 . ENST00000319670.13 . downstream upstream duplicates(1) ^(CTCGCGCGGCTTCCCGCTTCCGGCTCCCAGCTGCTAGCTACTGTGGATCTGGGGGGGCCGGACGGAGGCATCGGAGGCGGCTGCGAGAGTGGCAGAGGAGCTGGCGGAGAGCGGCCTGCGGGCGATCGGGCCGAG___CCTCGCTCAAGGAGCACCCCCGGGGCACCCTCCTGTCCGATGGCAGCCCGGCCCTGTCCAGGAATGTCGGTATGACGGTCTCTCAGAAAGGGGGTCCCCAGCCAACACCGAGCCCGGCTGGCCCTGGGACGCAACTCGG___ACCAATCACAGGAGAGATGGATGAAGCCGATTCTGCGTTTTTAAAATTTAAGCAGACAGCTGATGACTCTCTGTCCCTTACATCTCCAAACACCGAGTCCATTTTTGTAGAAG___ATCCCTACACCGCCTCGCTGAGGAGTGAGATTGAGTCAGACGGCCACGAGTTTGAAGCTGAGTCCTGGAGCCTCGCCGTGGATGCAGCCTACGCCAAGAAGCAAAAGAGGGAGGTGGTGAAAAGACAAGATGTCCTTTATG___AGCTGATGCAGACAGAGGTGCACCACGTGCGGACGCTCAAGATCATGCTGAAGGTGTACTCCAGGGCCCTGCAGGAGGAGCTGCAGTTCAGCAGCAAGGCCATTGGCCGCCTCTTCCCATGCGCTGACGACCTGCTGGAGACGCACAGCCACTTCCTCGCTCGGCTCAAGGAGCGCCGCCAGGAGTCCCTGGAGGAGGGCAGTGACCGGAATTATGTCATCCAGAAAATCGGCGACCTCCTGGTTCAGCAG___TTTTCAGGTGAAAATGGGGAGAGAATGAAAGAAAAGTACGGTGTGTTTTGTAGTGGCCACAATGAAGCTGTTAGTCATTACAAGTTGCTGCTTCAGCAAAACAAGAAATTTCAAAACTTGATCAAG___AAAATTGGCAACTTCTCCATCGTGCGGCGGCTTGGCGTGCAGGAGTGCATTCTCCTGGTTACACAACGCATAACCAAATACCCAGTGCTGGTGGAGCGCATCATCCAGAACACGGAAG___CTGGCACTGAGGACTATGAAGACCTGACCCAGGCCTTGAACCTCATCAAAGATATCATCTCACAAGTGGACGCCAAGGTCAGTGAGTGTG)AGAAGGGCCAGCGCCTCAGGGAGATCGCAGGGAAGATGGACCTGAAGTCTTCCAGCAAACTCAAGAACGGGCTCACCTTCCGCAAGGAAGACATGCTTCAGCGGCAGCTCCACCTGGAGGGCATGCTATGCTGGAAGACCACATCAGGGCGCTTGAAAG|CTGTCATTCTTCATTAGATCGTGTTGAATCTATCATCAAGCTGCAGCAGTCAAGACCCAATTGCTCAAAAAAGCCTTTGGCATGAGATTCCACAGAACATGGAAGGTAGAAGTTAATATACCTTAGTATGGAAACA MTVSQKGGPQPTPSPAGPGTQLGPITGEMDEADSAFLKFKQTADDSLSLTSPNTESIFVEDPYTASLRSEIESDGHEFEAESWSLAVDAAYAKKQKREVVKRQDVLYELMQTEVHHVRTLKIMLKVYSRALQEELQFSSKAIGRLFPCADDLLETHSHFLARLKERRQESLEEGSDRNYVIQKIGDLLVQQFSGENGERMKEKYGVFCSGHNEAVSHYKLLLQQNKKFQNLIKKIGNFSIVRRLGVQECILLVTQRITKYPVLVERIIQNTEAGTEDYEDLTQALNLIKDIISQVDAKVSECEKGQRLREIAGKMDLKSSSKLKNGLTFRKEDMLQRQLHLEGMLCWKTTSGRLK|avilh* 01BR043 ENSG00000268861.7 ENSG00000249860.4(61742),ENSG00000236993.2(4871) +/+ ./+ chr19:7453715 chr10:55662470 CDS/splice-site intergenic translocation 1 2 0 49 4 high . . . . . ENSG00000268861.7 . ENST00000668164.1 . downstream upstream duplicates(1) ^(TACCAGTGTGAAGCGCAGGCTGAGCTGCCTCCGCAGTCGAGTGACCAGGCAGAAGGAGAAG___GGGAAGAGCCCAGCACATCTGAAGGACAAGGGCCAGGATGCACGAGAGAGGCGGGAGTGTGTCAATGGGCACCAGCTGTTGCAAGGGACCTTCTCCGGCCCCTCCAGCTGCCCCCTGTGTGGCAAACCTTTCTTGAGCTCAG___CCTCGCTCAAGGAGCACCCCCGGGGCACCCTCCTGTCCGATGGCAGCCCGGCCCTGTCCAGGAATGTCGGTATGACGGTCTCTCAGAAAGGGGGTCCCCAGCCAACACCGAGCCCGGCTGGCCCTGGGACGCAACTCGG___ACCAATCACAGGAGAGATGGATGAAGCCGATTCTGCGTTTTTAAAATTTAAGCAGACAGCTGATGACTCTCTGTCCCTTACATCTCCAAACACCGAGTCCATTTTTGTAGAAG___ATCCCTACACCGCCTCGCTGAGGAGTGAGATTGAGTCAGACGGCCACGAGTTTGAAGCTGAGTCCTGGAGCCTCGCCGTGGATGCAGCCTACGCCAAGAAGCAAAAGAGGGAGGTGGTGAAAAGACAAGATGTCCTTTATG___AGCTGATGCAGACAGAGGTGCACCACGTGCGGACGCTCAAGATCATGCTGAAGGTGTACTCCAGGGCCCTGCAGGAGGAGCTGCAGTTCAGCAGCAAGGCCATTGGCCGCCTCTTCCCATGCGCTGACGACCTGCTGGAGACGCACAGCCACTTCCTCGCTCGGCTCAAGGAGCGCCGCCAGGAGTCCCTGGAGGAGGGCAGTGACCGGAATTATGTCATCCAGAAAATCGGCGACCTCCTGGTTCAGCAG___TTTTCAGGTGAAAATGGGGAGAGAATGAAAGAAAAGTACGGTGTGTTTTGTAGTGGCCACAATGAAGCTGTTAGTCATTACAAGTTGCTGCTTCAGCAAAACAAGAAATTTCAAAACTTGATCAAG___AAAATTGGCAACTTCTCCATCGTGCGGCGGCTTGGCGTGCAGGAGTGCATTCTCCTGGTTACACAACGCATAACCAAATACCCAGTGCTGGTGGAGCGCATCATCCAGAACACGGAAG___CTGGCACTGAGGACTATGAAGACCTGACCCAGGCCTTGAACCTCATCAAAGATATCATCTCACAAGTGGACGCCAAGGTCAGTGAGTGTG)AGAAGGGCCAGCGCCTCAGGGAGATCGCAGGGAAGATGGACCTGAAGTCTTCCAGCAAACTCAAGAACGGGCTCACCTTCCGCAAGGAAGACATGCTTCAGCGGCAGCTCCACCTGGAGGGCATGCTATGCTGGAAGACCACATCAGGGCGCTTGAAAG|CTGTCATTCTTCATTAGATCGTGTTGAATCTATCATCAAGCTGCAGCAGTCAAGACCCAATTGCTCAAAAAAGCCTTTGGCATGAGATTCCACAGAACATGGAAGGTAGAAGTTAATATACCTTAGTATGGAAACA . 01BR043 ENSG00000002330.13 ENSG00000197658.9 -/- -/- chr11:64271613 chr11:63104298 CDS/splice-site CDS/splice-site deletion 1 2 0 370 8 high out-of-frame . |Sugar_(and_other)_transporter(100%) . . ENSG00000002330.13 ENSG00000197658.9 ENST00000309032.7 ENST00000417740.5 upstream downstream mismatches(1) ^(CGGCAGGCCCGGGTCAGGGGCCTCGAGATCGGGCTTGGG___CCCAGAGCATGTTCCAGATCCCAGAGTTTGAGCCGAGTGAGCAGGAAGACTCCAGCTCTGCAGAGAGGGGCCTGGGCCCCAGCCCCGCAGGGGACGGGCCCTCAGGCTCCGGCAAGCATCATCGCCAGGCCCCAGGCCTCCTGTGGGACGCCAGTCACCAGCAGGAGCAGCCAACCAGCAGCAGCCATCATGGAG___GCGCTG)GGGCTGTGGAGATCCGGgGgCtCgcCgGCTCCTACCCCGCGGGGACGGAGGACGACGAAGGGATGGGGGAGGAGCCCAGCCCCTTTCGGGGCCGCTCGCGCTCGGCGCCCCCCAACCTCTGGGCAGCACAGCGCTATGGCCGCGAGCTCCGGAGGATGAGTGACGAGTTTGTGGACTCCTTTAAG|GAAGATGGTGGAGTCTGCTCGGTGGCTGATTATCAACAATCAGCTAGATGAGGGCTTAAAGGAGCTTAGAAGAGTTGCACACATAAATGGAAAAAAGAATACTGAAGAGACACTGACCACTGAG___CTTGTGAGATCCACCATGAAGAAGGA(GTTGGATGCAGTCCGAATTAAAACATCCATTTTTTCCCTGTTCCGTGCACCCAAATTGCGAATGAGAGTCTTCGGCCTGTGCTTTGTGAG___ATTCGCAATCACTGTACCCTTTTATGGCCTGATACTCAACTTGCAGCACTTAGGGAGCAATGTCTCCCTGTTCCAGATTCTCTGTGGAGCTGTCACATTCACAGCCAGATGTGTTTCCCTTTTGACACTGAATCATATGGGTCGTCGAATAAGCCAGATATTGTTCACGTTCCCGGTGGGACTTTTCATTCTGGTCAACACCTTTTTGCCCCAAG___AAATGCAGATCCTGCGTGTGGTTTTAGCAACTTTGGGAATTGGTAGTGTTTCTGCTGCTAGCAACAGTGCTTCTGTCCACCACAACGAGCTCGTCCCCACCATATTGAG___GTCAACAGTTGCAGGAATCAATGCAGTGTCCGGTAGGACTGGGGCAGCACTGGCTCCTCTGTTGATGACCTTAATGGCGTATTCTCCCCACCTACCCTGGATTTCCTATGGAGTCTTCCCCATCCTTGCTGTCCCTGTTATCCTCCTCCTTCCAGAAACCAGGGATCTACCTCTTCCTAACACCATCCAGGATGTGGAAAATGA___AAAAGATTCAAGAAACATAAAGCAGGAAGATACTTGCATGAAAGTAACACAGTTTTAA)$ MFQIPEFEPSEQEDSSSAERGLGPSPAGDGPSGSGKHHRQAPGLLWDASHQQEQPTSSSHHGGAGAVEIRglagSYPAGTEDDEGMGEEPSPFRGRSRSAPPNLWAAQRYGRELRRMSDEFVDSFK|edggvcsvadyqqsar* 01BR043 ENSG00000179918.19 ENSG00000229667.2(296690),ENSG00000207515.1(10642) -/- ./- chr16:30444358 chrX:90586593 3'UTR intergenic translocation 0 14 3 622 25 medium stop-codon . AIR_synthase_related_protein__C-terminal_domain(100%),AIR_synthase_related_protein__N-terminal_domain(100%)| . . ENSG00000179918.19 . ENST00000478753.5 . upstream downstream duplicates(6),mismatches(3) ^(AGGAAGATTGTGCATGCCGTGGGTCTGACGGCTTGAGTAGCGCTAGGGAGAATCCCTGCAGGTAATATTTGACTTTTGCTTCATATTAATCTGAGTGGAAAATAAAAGGGCCCTCTTCTCCTCTCGCTTCCCTGCCGGGCAGGCGCCATGGCGGAAGCCTCGGCGACGGGCGCCTGCGGAGAGGCGATGGCAGCGGCGGAAGGCTCCTCGGGCCCGGCGGGCTTGACTCTGGGCCGGAGCTTCTCGAACTACCGGCCCTTCGAGCCCCAGGCGTTGGGCCTCAGCCCGAGCTGGCGGCTGACGGGCTTCTCCGGCATGAAGGGCTGAGGCTGCAAGGTCCCGCAGGAGGCGCTGCTCAAACTCCTGGCGGGACTGACGCGGCCGGACGTGCGGCCCCCGCTGGGCCGGGGCCTGGTGGGTGGCCAGGAAGAGGCGTCCCAGGAAGCCGGCCTGCCGGCAGGAGCGGGCCCCAGCCCCACCTTTCCAGCCCTGGGCATCGGGATGGACTCCTGCGTCATCCCCCTGAGGCACGGGGGCCTGTCACTGGTGCAGACCACGGACTTCTTTTACCCCTTGGTAGAAGATCCCTACATGATGGGGCGCATAGCTTGTGCCAACGTGCTGAGTGACCTCTACGCCATGGGGATTACTGAGTGTGACAACATGTTGATGTTACTCAGCGTCAGCCAGAGTATGAGTGAGGAGGAACGCGAAAAGGTAACGCCACTCATGGTCAAAGGCTTTCGGGATGCGGCTGAGGAAGGAGGGACGGCAGTGACCGGTGGGCAAACGGTGGTCAACCCTTGGATTATAATCGGTGGAGTTGCCACTGTAGTATGCCAACCAAATGAGTTCATAATGCCGGACAGCGCCGTCGTTGGGGACGTGCTGGTGTTAACCAAACCGTTAGGAACCCAGGTTGCTGTCAATGCCCACCAATGGCTGGATAATCCTGAAAGATGGAATAAAGTAAAGATGGTGGTCTCCAGAGAAGAGGTGGAGCTGGCCTATCAGGAAGCCATGTTCAATATGGCTACCCTCAACAGAACTGCTGCAGGTTTAATGCACACATTTAATGCCCATGCGGCCACAGATATCACAGGCTTTGGCATTCTAGGACACTCCCAGAACCTTGCAAAACAACAAAGAAATGAAGTGTCCTTTGTTATTCATAATCTGCCAATAATTGCCAAGATGGCTGCCGTCAGCAAGGCCAGTGGACGGTTTGGGCTTCTTCAAGGAACCTCAGCTGAAACCTCTGGGGGATTACTGATTTGTCTGCCAAGAGAACAGGCGGCTCGCTTTTGTT)CTGAAATCAAATCCTCCAAGTACGGAGAGGGTCACCAAGCGTGGATCGTTGGCATTGTGGAAAAGGGAAACCGAACGGCCCGGATCATTGACAAGCCGCGAGTTATTGAAGTCCTGCCTCGTGGGGCCACAGCTGCTGTTCTTGCTCCTGACAGTTCAAATGCCTCCTCTGAGCCTAGCTCGTGAGATGAAAGAACAGAAGTTGTTT|a|TTGGCAATTTTGTATAAAACTAAACATATACTTGATTACAATCCAGCAATTGTACTCTTTTGTATTTCACCTAATTATTTGAAAATTGTGTCTACACAATAACCTGCATACACATGTTTACAGAAGTTTTATTTGTAATTACCTCAACTTGAAAGCAACCAAGATGTTTTTCATAGGGGAATGAATAAACTGTGGTACATCTATACAATGGAATATTATTCAGTAAAAAATAAATAAATGAAAATAAAATGACC . 01BR043 ENSG00000180042.5 ENSG00000285760.1(24192),ENSG00000267129.1(41401) +/- ./- chr17:3386125 chr17:3336126 CDS intergenic deletion/read-through 12 3 0 32 24 medium . . . . . ENSG00000180042.5 . . . upstream downstream duplicates(2) CACGCCGCCGTCGcGCGGTCGTAGGACATGGCCGCCgGGAGGTAGCTCTCGGTGATGCCCAGAGCCACGAAGAAGTACATCTCGGCAAAGCACGCCTGGAAGGATATGGCCTGGCCCGGGTGGAGCAGGCCGGCCAGCAGCCTGGGGACCGTGACGGTGGTAAAGCAGACGTCCACaAGGCTCAG|ACATGCCACAAAATGTTGAATGAAGATAGGCAGCGTTGGCAAGGAGAGTTTCTGAAACTTCCACTGGAGGGCTCTGCGTGTTCCGGCAGGAATGGTTT___ACCAACCCTCTGTGGTTGGAAATATTATTCTGTTTTTACACATGAAGAAATGGAAG . 01BR043 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 8 6 0 923 23 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream duplicates(4) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAGGCGGGGTCCTTCTCTGGGGCGGT)CGCGTTGGCAGCGGATGCGGGAAGCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTACCTCAAGTTTCTTCATCTGTGAAATGGAGATAATCGAATTTAG MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 01BR043 ENSG00000087470.18 ENSG00000064763.11 +/+ +/+ chr12:32741903 chr12:29234116 intron intron duplication 5 4 3 48 19 medium . . Dynamin_GTPase_effector_domain(100%),Dynamin_central_region(100%),Dynamin_family(100%)|Male_sterility_protein(100%) . . ENSG00000087470.18 ENSG00000064763.11 . . downstream upstream duplicates(2) GTATAGTCACGCACCACATAACATTTTAGTCAACAGACCACGTATTTGAATGTGTTCCCGTTAGATTATGATACCATGTTTTTGCTGTACATTTCCTATGTTTAGATACACAAATACTATTGTGTTACAGTTCCCTATTCAGTACAGTAACATGCTGTACATGTTTGCAGCCTGGAGCAATAGGCTATCCCATATAGCTTAGGCGTGTCATAGGCTATACCATCTACGTTTGTGTAAGTACACTCTGTGCTGTGCATGTAATGAAATCACCTAATA|TTGGTATGACACCACTGGATGAACTCATCTAGTCCCATGGTTAGAGTTACCACTGATGTGCTGACCCTCCAAACTAGAATTTCCAACCCAAGCTTGTTGGAATATCTAGTTGCTTTATTAGATATGCAAAAGCAACAGAAATTTTGCATAAAGCTTCTCTCATAATCTTTTTCAGCAGACCCGATAGTTCTCTTTTTTCCCCTTTCCTAG . 01BR043 ENSG00000087470.18 ENSG00000064763.11 +/+ +/+ chr12:32740518 chr12:29270412 CDS/splice-site 5'UTR/splice-site duplication 3 0 1 897 30 medium out-of-frame . Dynamin_GTPase_effector_domain(100%),Dynamin_central_region(100%),Dynamin_family(100%)|Male_sterility_protein(100%) . . ENSG00000087470.18 ENSG00000064763.11 ENST00000414834.6 ENST00000536681.8 downstream upstream mismatches(1) ^(AGCGCATGGCCTGCCGGGAGGGGGCAGGTAGCCGGCGGGCCCGGTCCAATGGGTGCCGGCTTCCGAGGAGAGGGCGGAGGAGAGGAGGAAGGAGGCGAACTGTGGGCCCCGGCCCCATTCATTGCCGTGGCCGGCGGGCACTGGGGCCCCGTGTTTTCAGAGTCATGGAGGCGCTAATTCCTGTCATAAACAAGCTCCAGGACGTCTTCAACACGGTGGGCGCCGACATCATCCAGCTGCCTCAAATCGTCGTAGTGGGAACGCAG___AGCAGCGGAAAGAGCTCAGTGCTAGAAAGCCTGGTGGGGAGGGACCTGCTTCCCAGAGGTACTGGAATTGTCACCCGGAGACCTCTCATTCTGCAACTGGTCCATGTTTCACAAGAAGATAAACGGAAAACAACAGGAGAAGAAAATG___ACCCTGCTACATGGAAAAACTCAAGACACCTTTCTAAAG___GGGTGGAAGCAGAAGAATGGGGTAAATTTCTTCACACCAAAAATAAG___GAGCCAGCTAGATATTAACAACAAGAAGAGTGTAACTGATTCAATCCGTGATGAGTATGCTTTTCTTCAAAAGAAATATCCATCTCTGGCCAATAGAAATGGAACAAAGTATCTTGCTAGGACTCTAAACAG___GTTACTGATGCATCACATCAGAGATTGTTTACCAGAGTTGAAAACAAGAATAAATGTTCTAGCTGCTCAGTATCAGTCTCTTCTAAATAGCTACGGTGAACCCGTGGATGATAAAAGTGCTACTTTACTCCAACTTATTACCAAATTTGCCACAGAATATTGTAACACTATTGAAGGAACTGCAAAATATATTGAAACTTCGGAGCT___ATGCGGTGGTGCTAGAATTTGTTATATTTTCCATGAGACTTTTGGGCGAACCTTAGAATCTGTTGATCCACTTGGTGGCCTTAACACTATTGACATTTTGACTGCCATTAGAAATGCTACT___GGTCCTCGTCCTGCTTTATTTGTGCCTGAGGTTTCATTTGAGTTACTGGTGAAGCGGCAAATCAAACGTCTAGAAGAGCCCAGCCTCCGCTGTGTGGAACTGGTTCATGAGGAAATGCAAAGGATCATTCAGCACTGTAGCAATTACAGTACACAG___GAATTGTTACGATTTCCTAAACTTCATGATGCCATAGTTGAAGTGGTGACTTGTCTTCTTCGTAAAAGGTTGCCTGTTACAAATGAAATG___GTCCATAACTTAGTGGCAATTGAACTGGCTTATATCAACACAAAACATCCAGACTTTGCTGATGCTTGTGGGCTAATGAACAATAATATAGAG___GAACAAAGGAGAAACAGGCTAGCCAGAGAATTACCTTCAGCTGTATCACGAGACAAG___TCTTCTAAAGTTCCAAGTGCTTTGGCACCTGCCTCCCAGGAGCCCTCCCCCGCTGCTTCTGCTGAGGCTGATGGCAAG___TTAATTCAGGACAGCAGAAGAGAAACTAAAAAT___GTTGCATCTGGAGGTGGTGGGGTTGGAGATGGTGTTCAAGAACCAACCACAGGCAACTGGAGAGGAAT)GCTGAAAACTTCAAAAGCTGAAGAGTTATTAGCAGAAGAAAAATCAAAACCCATTCCAATTATGCCAGCCAGTCCACAAAAAGGTCATGCCGTGAACCTGCTAGATGTG___CCAGTTCCTGTTGCACGAAAACTATCTGCTCGGGAACAGCGAGATTGTGAGGTTATTGAACGACTCATTAAATCATATTTTCTCATTGTCAGAAAGAATATTCAAGACAG|GAACCTCTTTCAGGAGCTATAAAAGAAAGGGAGGAATCATGTCCACAATTGCAGCTTTCTATGGCGGCAAGTCCATTCTCATCACGGGGGCCACAGGCTTTCTGGGCAAAGTGCTaATGGAGAAGCTGTTTCGCACCAGCCCAGACCTGAAAGTCATTTACATCCTTGTGAGGCCCAAGGCTGGCCAGACACTGCAGCAGAGGGTTTTCCAGATCCTAGACAGTAAG(___CTATTTGAGAAAGTCAAAGAAGTTTGTCCAAATGTGCATGAGAAGATCAGAGCTATTTATGCAGATCTCAATCAGAATGACTTTGCCATCAGCAAAGAGGACATGCAGGAGCTTCTCTCCTGTACAAACATAATATTTCACTGTGCAGCCACTGTACGCTTTGACGACACTCTCAG___ACATGCTGTGCAACTTAACGTCACTGCCACCCGGCAGCTCTTGCTTATGGCTAGTCAGATGCCAAAGCTGGAAGCCTTTATACATATCTCTACTGCCTATTCAAATTGTAACCTGAAGCACATCGATGAAGTTATCTATCCGTGCCCTGTGGAGCCAAAAAAAATCATTGATTCCCTTGA___GTGGTTAGACGATGCTATTATTGACGAGATTACACCCAAGCTGATCAGAGATTGGCCCAATATTTATACCTACACCAAGGCCTTGGGAGAAATGGTGGTGCAGCAAGAGAGCAGGAACCTGAACATTGCCATCATAAGGCCCTCCATTGTGGGAGCAACTTGGCAGGAGCCTTTCCCA___GGTTGGGTTGATAATATAAATGGACCTAATGGAATCATTATTGCG___ACTGGGAAAGGGTTTCTTCGGGCCATAAAAGCTACTCCAATGGCTGTGGCAGACGTAATTCCAGTTGATACAGTCGTCAATCTCATGCTAGCTGTAGGATGGTATACTGCAGTTCACAG___ACCTAAGTCAACATTAGTCTACCACATTACATCTGGTAACATGAATCCCTGCAATTGGCACAAAATGG___GAGTCCAAGTCTTGGCAACCTTTGAAAAAATCCCATTTGAGAGACCTTTCAGGAGGCCAAATGCTAATTTTACCAGCAACAGCTTCACATCACAGTACTGGAATGCGGTCAGCCACCGGGCCCCTGCCATTATCTATGACTGCTATCTGCGGCTCACTGGAAGGAAGCCCAG___GATGACAAAGCTCATGAATCGGCTTTTAAGAACTGTTTCCATGTTGGAGTATTTCATCAACCGGAGTTGGGAATGGAGCACGTACAATACAGAAATGCTGATGTCTGAGCTGAGTCCTGAAGACCAGAGA___GTATTCAACTTTGACGTGCGCCAGTTGAACTGGTTGGAATACATTGAAAATTATGTTTTGGGAGTTAAAAAATACTTATTGAAAGAGGATATGGCTGGGATCCCAAAAGCAAAGCAACGCTTAAAAAG___GCTCCGAAATATTCACTACCTCTTTAATACTGCCCTCTTCCTTATCGCCTGGCGCCTTCTCATTGCAAGATCTCAGATGGCTCGGAATGTCTGGTTCTTCATTGTAAGCTTCTGTTATAAATTCCTCTCCTACTTTAGAGCATCCAGCACGCTCAAAGTTTAAGAGCATTTAGCCATCGCTTTTTATCTGGAACCTCTCAGATACCTCTAAAACAGCAAACTGTGATTCTCAAGATTAGAAAGTAACAAGGAATATGCCCAAACTGTCAAATGTCACCTGTTATGTATTCGTCCCTATTCCTTAACTATGTATTTTTATTTCAGTGAGAGAAGGAAAGTTGTAAACTAGCCCATAGTCACCTATATTTTAGGGAAAAAAATCCAAATTGTTTCCTAACATTCTATTTTATGCCCTTGCGTATTAAACGTGAAAGTACTCCCACTTTTCTATATTTAGTTTTTCTTTTCTCTCTGAGATGATTCATTTAAACTCAGTAAATATGGAAAGATGCATGGCAGAAGCTGAAATGAGCTCAAGCAGTACTAACCTTGGAACCATTCTGGGTACCCAAAAGAAAAATTTAAAATCAAGATGAGTAAAAGGAGAATGGTCTCAATATCCTCAAAAATGCAGTAAGAGAAGTAATTCCCCACTGAAAATGTCTCTCTTTCTTTCTATGTTATACCCTGGAGTCCTGGTTGAGGGGTGGGGGAATCAGAAAAGTAGGTTTACATTTAACATTTTTCTTAACTACATTCACTTCTTAAAAAGGAACAAGAAGTGTAAATAAGTATGTATAGAGTGAGGGATTAAGCATATTTGCATTGGGGACTCGTGTATTATGCTTTTAAGTCAAAATTAATATTCTCAAATTCGAATTTGATAGCTATTATTTCTAAATCTTTTTAATCCTCAATTTTCCTGGTAACCTTCTTTCAAGAGTCTCCTTCTTCTAAAAGTTGCCAAACCCTTTATATTTAAGCTTTTTCCACTCAGGACTCAATTAGAGTGGTCAACAGGGAGAGGGATGGTCCCATTTGATCTTTGCCACTGAGCAAAACAAAACTTCAAATGAACTTTTAAACTGTAGCTTTAGTCTTCTGGTATAAAGTGGGGAAGATTACACTTATGTGATCACCAAAGGATTTACTAGTATCTTGGTCATTCCAATTGCACAATGTTAACTGTACAACACACAGCAGAAAAGTGAATAGACTTCACTAAGGGATTCTAAGTTTAGAAAATAGGTTTTGTTTTCTTAAAAAATTTTGTGTATAATACAAACTAATGAAAACTATACATATTCTCCAATTCCTATAGTAATAATAATGTAACTGTTACACCAACTTTCCTCATATTTGAGAGATGAGTACATGTTGGATTGCAGCATTTCTTCATGTTAAAAACATGGAATATTATTCAAATATAGTACTTGGGGCCTAAACAACTAAAATTAGTCACCGCATAACTAGTTGAAAATGGCATAGGCATAAAATGTTAATAAAGAATGGCAGTTATATTTATGCTCACTTCCTGGAGTAATTGGGTAATATTCAGAAAGGCACATCGTGGTAGTTTAAGTGTACAAGGCCTTAGGGCAGTATCTAGCCCAGTATTATTCCAGATTCTCCTGAGCTCTATATAAAGGGCATTTTGGAGGAACTCTTCTGGGCAATATCTTTCCCAATCTCATCTAAATTCTGGGAAATATTTTCCATAGCAGACAACCCAGCTCTGAAACTAAGCACCTGGTGATCTTTAGTTTGAGATGTCTATATGGTACTTTTGAGTTATATCAATTAAGATACAAGCTATAGACATGATAAAAATATGAAATCAAGATATAGCTCAGTGGGATTGGATTAAGACATAATAATAGTTCTAAGAATTCACTTTTGATTGTATGTTTTACCAATTCAATAATTCCACTAATCAAGTATTCACATTTTGACTTTTGATTAAATAAAAATTTGAATTAAAATTA)$ MFHKKINGKQQEKKMTLLHGKTQDTFLKGWKQKNGVNFFTPKIRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKLIQDSRRETKNVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDr|nlfqel* 01BR043 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 7 3 0 349 36 medium out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream duplicates(2) ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGAAGTGGCTGTGAATGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGC)CTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAG MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 01BR043 ENSG00000165959.12 ENSG00000165959.12 -/- -/- chr14:95191847 chr14:95203627 intron CDS duplication 2 5 0 7 74 medium . . Calponin_homology_(CH)_domain(100%)| . . ENSG00000165959.12 ENSG00000165959.12 . ENST00000298912.9 upstream downstream duplicates(2) GGtGCTGgCAgCTCCTCTCACCTGATGTTATGGAGATGAACGGAGTACGTGCAAAAGCTCGAGGGGCTGCCTGGATGGCCCGACGCACTGCCTTGGGCCAGTACACACAGTGTGGGGCCTACCTGGACATGGTGCTGGGGAGC|TTCTACCAGCCAGGCTTTCAACAAAGTTCCTTCACCTCATGAGACAAAACCTGACGAGGATGCTGAGGCTTTTGAGAATCATGCTGAAAAACTAGGTAAAAGGAGTATTAAATCTGCTCACAAAAAGAAGGATTCGCCAGAGCCTCAAGTTAAGATGGACAAACATGAACCTCATCAGGACTCCGGAGAAGAAGCTGAAGGCTGTCCTTCAGCCCCAGAAGAGACACCAGTGGATAAAAAGCCAGAGGTGCATGAAAAGG(CCAAGAGAAAGTCCACCCGTCCTCATTATGAGGAAGAGGGAGAAGACGATGACCTCCAGGGTGTGGGCGAGGAATTATCTTCCAGCCCCCCAAGCAGCTGTGTCAGCTTGGAGACCCTTGGGAGTCACAGCGAAGAAGGCCTGGATTTCAAGCCCTCCCCACCCCTCTCAAAGGTTTCCGTCATTCCCCACGACCTCTTCTATTTCCCACACTATGAGGTTCCCCTGGCTGCAGTTTTGGAGGCTTATGTAGAAGACCCGGAGGATCTAAAAAATGAAGAAATGGATCTCGAAGAGCCAGAGGGCTATATGCCAGACCTGGACTCCAGGGAGGAGGAGGCCGATGGCTCTCAGAGCAGCTCCAGTTCCTCGGTGCCAGGAGAGAGCCTCCCCAGTGCCAGCGACCAGGTGCTGTATCTCAGCAGGGGTGGTGTGGGTACCACACCAGCCTCAGAACCCGCTCCACTGGCCCCCCATGAGGACCACCAGCAAAGGGAGACCAAAGAGAATGACCCCATGGACAGCCATCAG___TCCCAGGAATCCCCAAACCTGGAAAACATAGCAAACCCCCTAGAAGAAAATGTAACGAAAGAATCAATCAGTAGTAAAAAAAAGGAAAAAAGGAAACATGTGGACCACGTAGAAAGTTCACTATTTGTAGCACCAGGAAGTGTTCAATCCTCAGATGACCTAGAAGAAGACAGTAGCGACTACAGCATTCCTTCCAG___GACTAGTCACAGTGACTCCAGCATTTACCTTCGACGACATACTCATAGGTCTTCGGAATCG___GATCATTTTAGCTATGTTCAGTTGAGGAACGCAGCAGATCTGGATGACAGAAGAAACCGAATATTAACCAG___GAAGGCCAACAGCTCAGGAGAAGCCATGTCACTGGGGAGCCACAGCCCGCAGAGTGACTCCCTGACACAGCTTGTCCAGCAGCCGGATATGATGTATTTTATTCTCTTCCTGTGGCTCCTGGTGTACTGCTTGCTGCTCTTCCCACAACTGGATGTTAGCAGGCTCTGATACGTGTGTCTGGATAATAAAAAAGACAGGACCCTGACCAGGGGCGGGGTTACTTCATTTTATTTTGGGTTCTGGGTGGGGCACTTCTACAGACAGTTGAGGACCTCCGAGGAAACTTAGACCCCCTTTCTCGCTATTGTGGTTTTTTTTTTTTTTTCAGGTTTCCTTTTTTTTCTGGACAACCTGAGCATGCTTTTTTCTTTGGCTGTGTACTCAAAACTCAGGCATGCAGCTGGATCCGTAGGTGGGGTTTTGTCCTTGTGTGCCTTGCTGGGTTGGATAGGGAGCATTGTTAGTGATCATTAGCCCGCCTGGATCTTAGCACACCCCACATTGCAGGTTCACACGCTGGATGAACTTGAGTTTCTTACCTCTCAGATGAAGGGCTGCTTAATGAGAAAGAGGGTGGGCACCCCAGGCCAAGCCCCAGCTGGGGAGAGAGCTGCCACGTTTTCCTCCAAGCGTGGGTGTTTGAGAGAAGGTGCTGGGGTCCATGCACCTGTCGCAGTCCGGTAACTGGTTGCATTCACTAGGGGAAATCCGAGCAGCCAGCTCTGTGTAAGCACATCCAGGAATGGCAGAATCCAGGGAGGAAGGTGAAAGCTGTGTTGAGAGCCACTGTGTGCTCTTTTTCACCCTGTTTTTTTTGTTGTTTTTTTGTTTTGTTTTTTGTTTGAGGGGAGATAACACTTGAAATTCAGTTTTCCATTGATTGGATTGAGATAGAACCATGATTTTCAAACCAGATCGCCAGGGCCCAGCAGGGCCATATAAAAGCCATGAGGAGTGGCTGGGCTGGAATCAGCTCCCAGCAGTGCTGGAGCTGGGTGGTGGGGTAGCTTCCTGCCCACTAAAGCTTTGGTGCACACCTCCCTCAGAATGCATGTCTTGGAACGGGCATTCTTTGTGGTCACTTGTAATGGGTTTCTTGAAGAGGCTTTCTGGACAGCACTCCGGGAGCAGGCCAGCACAGGAGGTTTGTGAAAGAAGAGAGGCATCTCTAGCACCCCTGCCCCCAGTCTTCCTCAGCCCCAGGCTCCCTCTGCTCTCTCCTCCCTGCCAAGACTCAGGTCCGTGGTGAGTCTCTGCATTGGTTCCTCCTCCCCTTGCTCTCCCCTTCAGAAAGCATGTACCAGGCAACCCTTATAAAATCACAAATGAGTCAGGAGGGGACTCAGTGAGCATCTTGTCTAGCTGGACCCAGAGAGACAGAGCAGCTTGACCAAGATCATATAGCCGACCAGGGGCAGACTTGCAGTGAGCACACAGGCACCTGATGCCCTGTCCAGAGCTGTCACCCCTTGTAGGAAACTTCCACTGGGCACACCAATGTCCTGAGAAAAAGATAAAATGACTAGATTAAAATGTCCACATTCAAGCAAAACCAAAAAGTTTAGACCAACTATCGACATTTGTTTTGTTCTTGTATTTTTCCCATGAGGAATTCTTACTCACCTTCAAGCTCATCCCCAATTCCTTCTGAAATACCCTTGACAGCTGCAACAGCTTGTCATTTGACATACCAGCGTCGCTCTTACTCCAGGAATCACGTTTCTTTCTTTGCTAGCCAAGGACTTGCTCATTTCAAGCAGTGGGTTTCAAGTTTACAGAATTCCAGCATGGCCAGAAGAATTTACATAGCACATCTGAGTCGATGACAGCCAAAATCTGGCCTCTAAACCAGTCTGATTATAGTCTGTCTCCCCTCCTGAAAGAATTTCAGCCTTCCAACCAGAAAGCTGCTGGGAGCTTGGAGTGATTCCATCTGGAAGGCCAAGAGCCCCATGGAAAATGAGCTAATTAATGAGCTCCCTGGCATCAATGAAAGCTCAAAGGTACAGATAATAAAGATTATGTGATAGTTTATAACTCTGGGCACCATGCAGTCCTTGCCTAAATTAGATGCTCGAAGAGCCTGGGAAGAGCCAACCCAAATGTGAATCATTTCATTTTATGGGTCTAGACCTTGTTCAGAAAAACCTCTGCAAGATACTTCTCTCACCTATTACAACTTGTAATATTGTTTAAAACATCTACTGGCAAGATGCCTGAAAGTCATTTGGTTCAGGTTGGCAGTCAACTGATATTTTGCAAAGGAAAAAAAAATCTCATTTGAGTATAGGCTTCTATGGAAGAAGCTGGATATAGAAAATGGATGTGGAAGTCTGCAGGACAAACCACCCCATTGCTTGTAAATTTTTTTTAAATTAAAAGAAATACAATAAGGCTTTTAACAAGAACTAGCAGTCCCCTAAGTCTCGCTGCTTAGAAGTAACCACTTTCAACTCTCTTATGTTTGCATTTCTACATAACGTGCTTACACTTTATTTTTTAATTTAGAAACATCTACTGGCTTGCTGTCACAGTAGAGGAGGATTTCACTCTTACCATACCGTGCTTTGGTTTTCCAGTATAGCTAGATCACATCATTTAGTACATTTCTATTAGGTGTTGACATTACCTGGAGCACTTAAGGATTGTTGACTCCCAAGCCCAGCAGTGTGTTATGGTTACATGTCCTTTCTCCTCCAAATGTCCCCATTAATTTGCTATTCTCTCTCTTTACTTTTTTTTTTTTTTTGGTGTGGCACATTCTTTAATAACTTCCTGAGGAAGAGAACATGGGAAGTAAATATGGTTGTAAATATTTTGAGATTTTTGCATGACTTAAGATGTCTGTATTCTGCCCTTAACAGAAATGTGGCTGAGCATAGAATGACAGGTGGAAAATAATACCCTCCCCTAGCCCCTCCCAAGCGTGCTGGTTGAGATTTCTGATGCCATTCTGATTCCCGTACCTTTATATGTGACTTAGGTTTTTTTATCCACCCTTCCTGGAAACATTTAAGATCTCTTTATTCTTGGTGTTCTGAACTGTCATGATGGTGTTGTATCCCGGGTGTTAAACCTTGTGCTGGGCCTTCATGGGAAATTTCTTAAATTTTCTTGTGATTATTTACATTCTTTCTTTCTGGACCACCTATTATTTCAATGTTGGACCCTCCCCTACACCCAGGCTGATGCTCTAATATTTTTTATCTTTTCTATTTTTCGTCTATGTTTCTGATCTGCTTTCAGGAAGAATTATTCATTTTTATCTTCCCAATCTGAATGTTTTATTGAATTTTTATTTTCCAAGTTAATAAAACCTTTGGTTATTATCCTGTCTTTGTTTTACAGTGTCCTGCTCTTGATGCGTGGATGCAGATTTTGTCTCTCTGTGGACGTTAATGATTGTGGTCTGAGGGGAAGTCTTTTCTGCTCCCTGTGTTGCCCTCATTTTCTCTGAGTTCTCTTTATTTTGGTGGTCTCAGTCTCTATCTTTCACGTTGTGAATTTTTCTCAAATATATGGTGATCCTATGGATCTGTTCATGTTTTAAGAGTGAGGCATCCAAAAGCTGATTGGAAGTTGTGTGTGCCAACTGGTGAGCTTTTCCACTAGGGTCACCAGGTGGGCACCTGGACTCATCATTGGAGAACACTGCCTGTCAGTATTTGCACGTGTTTTCTCTGGGGCTCATTCTGTTTCTTGAGAGATATTCCCACTACTCTCCTTCCTGGGAAACGGGCATACACAGGGCTTTTAGCCTATGCTGAGTACTCATGTGGTTTCAAAAATGGTGTCCCATCTGGGCAGAAGTCCCCATGAGCACTTGGCTTGACTGGCAAAGGACACCTTTTGCCCCTTCCTCCAGACATACCCAGCTCTGAGCTTGGACAATGCTCGAGGAACAATGAAAAGGCTAGATTTTAACTCCTAATTGCCCTCTTTAGCCAAGTGCCTCTGTGCAATGCACAACTGTAGGACCATATCCAGAGACCCTGGTCTATACTCAGTGTGCCCGAGTCCTGACCGCTGAGCAGGCAGCCTCATCACCCGTGAGTATTTAGACTTTCATTAAGTTGCTTCAACCTTTGCTGTGCCTGGTGTCCCTGAGTTGGAGCTGCTCTGATTTCTCCATGGAGTAGGAGCACAGTGGTCATCTGGCTGCATGGGAAGGACAGGGGACCTCAGAGCCAATAAATGCCCTGGTCTTCAGCCCCATGTCTCACCCCATCCCTCCTATTCCAATCCCCAAGCCTCTCCTGGAGGCCACAGGGCATCTCTGCTGACCACTCTGTGGCCTCCCCTCTGCAGGCATGTGGTTTTAGGATCCCCCTCCCTGCTCACTTTTCCATCAGTTCCATTCCTGCATAAATAGGTTGCTAGCTCTTGCTTACTGTTCTCTTCTGTATTCTGTGTTCATGGTTGTATTAATATAACTTTCATTCCTCTGCTCCTATTTTCATGGGGTTTCATGAGGGAAGAAACAGGCTCATGTGTTCAGTATACCATCTTGATCCATAAACCCCATTTGAGTTATCTCACAGGTTGCTTAGGGGGCTTGCTGCTCTGACTGGTTTGTGAACGTGCCCTGAGTCCAGCTGGGACTGCAGCAACATCCATCCTGTTGAGCTGTGGTCTGCTAAGTGATTTTGTGTAATGCTGTGCCAAGTGCAGGAGAGGGATACATAGCATGGCTAAGCTCTGCTTGAATGCCATGATTAGTTATTACCTTCCTTCCTTCCCCCTGGTTTTGCTGCCTATTGTCAGTAAATGATCTTAGATCTCCTGCCTCCCCAAAGATATAGTCTATGTGGTGGTCTGGGTTCTAGGTTTTCTTTACCACCCTTGCTTCACTTAAGAAACAGAAAACTGGCTAGGCACAGTAGTGGCTCACACCTATAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGATCGCTTGAGGCCAGGAATTCAAGACCAGCCTGCACAACATAGCAAGACTCCATCTCTACAAAAAGTTAAATTTAAATTAGTGGTGGCATACACTTATAGTCCCAGCTACTCAGGAGGATGAGGCAGGAGAATTGTTTGAGCCCATGACTTTGAGGTTACTGTGAGCTATGATCCTGCTATTTTACTCCACCTGAGTGACAGAGCGAGACGCTGTCTCAAAAATAAAGAAACAAGTAGTCCACACAGGTGTTTGCCAGCAAACAAACAGCGCGGATTCTCTGTTGAACGTGGCCAACATTGCCTCGTCGAAGTTTGTATCTTGCCATAGTTGATGATCAGGTGGTCGGGGCTTCCTGGTCAGACCTGACCTTTGTGGGGAGATGTTCTCCCACCAAGGCTCAGAAGCAGGACACTCTTGCTGCCCCTCGGGCAGCCACCCAGAACATGGGCGTCTCCATTTCTGAGGTTCAGCATAGTTCCCCCCACCCTCTTCCCATGCAGTGCATGCCTGCTCTTTATCAGGATGGAACAGAGGGAAGGCAGAGGCACTGGGGGCAGCCTGTGTTGTTGATCTCTGTAAGTCACAGACTGTTCGAAAACCTCAGGAATTATGTAAGCGTTCAGTGCCTCATTTAAGAGATGAAAAACTGAAGATTAGAAAGAGGAAACGACTAGTCGCCCTGCTAGTTGATGACCTCCAGATAGCCATCTTCATTCCCAGTTAAGTTTACTACAAAACCACAGCCTCAGCTGCTGAAGCTAACCTCCCTACCCACCATCGCTAGGGACTCAGAACACCATGGAGCTCATCTCTCCAACAAAAGTCAGAATTAGCAAGTACAGATGTGTCTTACGAAAATGTCAGAATCCATCATGGCTGCTTTGGTGAGGAGCTGTTCTCCTTCCGTGGTCATGCCATTGGAAGGCAGTTGTATGACAAGAATGCTTTCACATGAGCTCCGATTTTCTTAACTCTCCAGAAGGACTTCAGAAGCCTCTGGAGTTTTGAGACACGGCCTCTCTCTCCCTTCTGCTTGGAGACACCTTCCTGGGGGTCTCCACTGCATTCCCCGCCGGTATTCCTCTGTGGAGCCTTGCGCCCTCAGGTCCCAGAAATGGGCTGTGTGGGAGCTTCCAGTCAGCCTGGTATCTCGGGACCTTCTCAGCCAGGAAATGAGACTGCACAAAGCCCTGTGAGGCCCAGCTGTGTTATTTCTCCTTCCCCGACATTGCATAATCACTGCTGACACAGCATTTGGGGAAGATTTAACGTCTTGGGCCAGCAGCTGCCATCTGGAACCATCACCACATAGCAGGTTGTTCTGTCCCATCCAACTGATGAGGGGGCTGCCCTAATGACAAGGTCCAGGACCTGGGTTGGGTGGTGGAAGGCTGGGAGCTGGAGTGGGCATTATTGTGCTTCTGTGCTGAAAATTGCTATGGCTCTTTTCCCCTAACAGCCAGCGTGGGAGAACCAAACATGAGACACAAGCATCCCCTTGAGCTCCACAGATCTTGCGCCTTGCTCTCATCAGGCATTTCCTTGGAAAACAGCAGTCAGCAGCTCATGGAAGTGAGCCCGGTGCACAGACTTTGCATGGACTTTGCACAGGTTCCATTTCCATCGTGTGCAGACACCTGTATCTTTGGGCTCCACGTGAGCACCTGCCCTCTTCACTCTGATTTTTTTTTTAAGAGACAGCATCTTACTCTGTCACCGAGGCTGGAGTACAGTGGTGTGATCACAGCTCACTGCAGCCTGAAACTCCTGGGCTCAGGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGTAGTACAGGTGCATGCCACCACGCCCACCTAATTTTTTTATCTTTTATAGATACAGGTCTCACTGTTGCTCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCCTACCAAAATGCTGGGATTATAGGCATGAACCACTGTGCCTGGCCTTCACTCTGATTTTTCTTAAGAGTCCTACAGGACCTTCAGGTCTTGTCACTTCTCTACCATTGTGTGTGAGACAGGGCATGGGGTGAGCTTGGTCAGGTGTGGGTCAAAAGCCTGGAGACTCAGAGCTGCTGGTTCCCCAAGAGCCCACAAAAGTTATCAGAGTTTCTGAGCTGAGTGTTCTGCAGTTGCCAGACCCCACAATGCTGGGAATACTGGCTTCTTTGTGTTTAGAACTTGTTCTGAGAACCTTGATGAGAACACATCAAGCAAGCAGTTCCTCCCAGCCAGGGCTGGAGCAACATGCCAAAAAACATTCTTGTCTATGGGAAAAAGACAACCAGTATTTTGTACTGTTTGACCAAGTTGTTTTTAAATATACACATGCCTCAACAATCCACGGCCTCAATCGCACTGCTAATTTGTTTAAATCCCTGACACTCAGATGTCAAGAATAGCTTCATCTAGCAGTGTTCTCTTTAAAGGAACCCTTTTTTTTGTTTTCATTTTAATCACTGCCTTCTTCTCTGGGAGGTATTGTGGGCTAGAGAAAGAAGTCAGGTTTGGGAGTCAGCCAGATTTAGATTGGAGTCCCAGCTCTGTCACCAGATCTCTGGGTGATCTTGGCAAACTAACTTCTGAGCTTCTGTGCATTATAGGCATTCAGCACATATTTGTTGGATGAAAAATACTTTTCTTGAAAGTTTATGAAGTTGTAGGATGCCCAGCAGCCCCCTTTTCTCTATTTCCTTCCTCTTGAAGCAAGCGTTGACTATACCTCTTTCCCTAACCCTTAGTGTACCATAGCTTCTTCCAACCTCTCTCCAATCCATTACTTTTTTCTGAGCTACCCTGTCTCAAATCTAACTCAGGCCTTTTTGCAAGAGGAAGTTTAAGCCATTGTTTACTCATTAACTCACTTGACCCTTAGAACAATCGTGGGAGGTGTTTATTTCGGAAAGGAAGCTAAAGCACAGGACAGAAAAATAAGGTCATAGCGTGAACTAGTAAGTAGCAGAACTGGGAACATAGGACTGTTATTTTCAAACACTCTAAACTTCACTGCAGTTGCAAATTTGCAACCAAAATGGCCGCCTTGAAAGGGTCTTTTGCAGTAAAATCTCAGTGTCCAACATCAAAGACAGTTCTTCAGGGCCTCCAATTAACTATACATCCTGCCCCCAGCTGCTCATCTCTGCACCTCTAACACGTACTTCACAGAGTAGGAAATTGGGCTTTCTCCTTCAAAAAGAAAAGTAGAGAAGGCCTGAGGGCAGTGTAATTAAAATGGAGAAGTAGAGACCACGAATTACTTGGATGAATTCATAACTGGTTGGTCTCTGAGGCAGGGATTATTATTTTTCCTGTATTTTAAGCTTAAAAGTAGTGATTTTTGCATTGTTACAAAAAACAAAATAGCAAAATATCATTTGATACTTGTATTCTGTTTGCAATAGCTACCACTTCCTTTAGCCCCAGCAAAAATCAATAGGTGTGTATTCTCTACAAGCCCATGCTGTGCCAGAATGCCAGTATTGCTAAATGTCATGCAAGGATTTAGACACTTTTTTAAAGGAAACTCTGGGAGTGCCTGTTGTCTGGAGAGTTGACATTGTCCAAAGCAGGCCAACACTGGTATGGGTATGGAGAACCCACGTCCTAGCTGTGGCTCACCTGCAGATGCCTTGAATTTACCTCTCTGGGTTGGAAGTGGGAAGACTTCTTTTAAAAGTCCTTTCTAAGTTTAAAAATCCAAAGGTTACGAAGGTAGTTTTTATTTATCTCAATAAGTGGCCTATTTGCTTAAAGCAAGTGTACCTCTGTATATCAGCCCAAAGCTTAGGGCAGTGCTTCTTGGCTTTAGTATCTGAGAAAGGTGCCTTTGGGAAGAGTTTGGTCAGACAGAAGGTAGTCTGAATCTTAAAGGTTTCAGATGAATGTTTGAAGTAGAACCTGGGAAATCTGCTTCCTAGGGCTGTTAGAAGGAAATTGGTCTCCTTAAATTACGTCAGCATCTGAGGCAGTTTCCTAAGGGAATTTCTTTTAAATTCAAAAGTTCAACTGCAGGAATAAATAGCTGTACAGGACTAGATCTTCCCATCCCTCATCTTTTCCCCTTCCCCGAGTAACGACTCAAAAAGGCTTCTGAAATTCTACTCAGAATCGGAGCCGTTTGCATTCCAACAAGGATCCCTTAAGCCAAATGCTGGTGTGTTTGTGTAGAATGTCCCTGGGGTAGGGGCGGTAGCTGTGGGGAGGGAATGTGGTGCAGGGGACACCTGCCCTCTGCCCTTGAAATTGCACCATAAGATGCTGCCTATGTCACTCACAGTGGTGCTGATACTATCCGCCAAAGACAAATTGTGAACACGGAAAAATGGTCGTTCCCTACTGTACATCCTCAGGACAGACTTAACTAAACTTGGAGACAGGAGATTGTTCAGACCATATTGTAGTGGGTGGTGATCATTGTTTTATTTTGGGGGAGTCTGGTCTATTGAGCAGATTGAATGTTTCCTTATTGTGCAGGGCTTAATTGACTATGTCTGAAAGTTTTTACTGAGAGCTCTAAGAAAACTATTGAGGAAAATGAAATGTTATTTTGTAGTACAAGGATTATTTTTGTCTATTTAGGATATACATAGCTGTAGCTTTGTAAAAAAAAAGATCTTTATAAACAATATATGAATGTGCCGTCTTATTTATTGATTACTGTAAATTAAGATATAAATGGCTATTTGAATAATTTATACCTGTGGGAATTAACTGGAGTATTTGTTATTTGACTGTTTTCTATTAAGGAATATTAGGCTTGGTGCTATGATGAATGATCTTGTAAAATCATGTGTATTCTTAAGAAAATTTTTGAATATAAATTTCTTGAACTGA)$ . 01BR043 ENSG00000141424.13 ENSG00000233395.2 -/- +/- chr18:36128383 chr10:43972427 intron intron translocation/5'-5' 4 2 1 11 7 medium . . . . . ENSG00000141424.13 ENSG00000233395.2 . . upstream downstream . GAATTCCCGAAACTTCAAGCCCCAAAGATTCCTCTTTCAGGAGCCTCGTTCTACGCCGTACCTCCATTTCCCACTGTTCCCTGTATGATACCTCGCACTTGTGCAACACATGAGTTTAACGAGTACTTGTAATATACATTCCTTCATGTGTTTTCCTCCTTCGCCTTGCAAAATAGG|GAGTCAATGACATCCACGTTCAAGCACGATTCCCCTCAGGTCTGTGACAGGGGCTGCCCTGGGACCCTGGCCCTCCATCTGCTTCCCCTCGGTGTCCCACTTTGGAATTGCTGGGCTGAGCCAGGGGCCAAGAGGGAAAAGCAGG . 01BR043 ENSG00000188938.17 ENSG00000214561.3 -/- -/+ chr9:93444087 chr6:58120250 3'UTR exon translocation/5'-5' 5 1 0 51 19 medium stop-codon . . . . ENSG00000188938.17 ENSG00000214561.3 ENST00000375412.11 . upstream upstream duplicates(1) ^(AGGCTTAACTACCACCATCTCCTCGCGGGCAGTGGGGGCAACCGCGAAGACAGAATTTCACAAACTTTCAGCTCCAGCAGTTTCAAGGAAATGTCAAATGACAAGATGGAAGACCGAGTGTCAAGAGCTAAGACAACAAAAAGGCCCCCAAAATTTGTTTTCAAGAAAACCAATGAAAAAAGCAAGCAATCAGAACGTGAAGTCCAGGATCATGGATGTGCTTATCTTCACAGTCACTGCTGGGTCCTGAAGTTCTCCTCTGGCCCAGTGCCAGCTGCGAAGCCCTCTGCCAAAGGGCCAGAGGAGGCCGGTGATATAGAGCTCTGATTACCCACCCGTCAGGGCACCGCTGAAGGTCACTGAATACTTACTGTGCACCCGAAAAATAAATCCTGCGAGTTCACGCCCGCGTAGTTCGCCCCCTGATTTTGAGCGACTCCTTTCGCATGGGATCTACAAAACCGAACTGCCTTAAAGACCTCTTTCACACGGACGTGAAGTCACAGAACTGACAAAATCCCATCCTGTCAAAGTGCACGGGTCTTTGAAATCTAACACAAAAAGCCATAGAAAGATTCTCTAAACACCCTGTACTAAGAGGAACACGGACAGGGCACTGCGTTCTGAAGTAGAGGCCAGGGCACTGGCCCTTAGACACGTCTCGCTGTCACCGGGCTAACAACATTGGCAAGGGCGGCGGCAGCAGCACTGATATTTGCAGCCCCCAAGGGCTCTGGCGAAACCCCCTCTATTACTCTGTATCCTGCCTGCTTCCAAGATGAACCTGTTGCTGGGAAAGAACAGGCTAAATTAGAAAAGGGAGTATTTTGTCAAAGTTGAAGGTGAGTGATAGCCTGCCCGCCTCAAATAGGATGGGAAAAACTAAGGATATTGGGGATGATGACACTGTCGCCTCCGAATTCTGGTCCGGGGCTCTCTCCCAGCCCTCAAGTGTCCCCACGCGGCCGCGGACCCCGAACAGGGACAGCTGGAGACGGGCTTGGGCAGCGCGCGGCCTGCACCCGCGGCCATCCATCTTGCAGCCCGGCCCGGCCAGGCTATCCCGGGCAAGGGCTGGGGGAACTCGCTGCCCCCAGCGCCGCCACGGCCGGGCGACATTCTGCGCCCTGGGAAGGGGGATAGGGGTGCGGCGCGGCCCCGGTCCCCGGCCCGCCCGGATCCCCGGCCTCACCTTGACGTGGAAGCGGATGAGCGCCAGGCGGATGCAGTGGGCCATGCAGACGGGCGGCAGGAACCAGACCTTTGGCGGCGGGGTGCCCTTGTTCTGGACATGGCTGACGATCTGCTGTGCCGTCTGGCGCTCGTTGCCCTGCCGCTTGACCCACTCGTGCAGCCGGGCCTTCTCGAGCGCGCCGTTGAAGAAGACGAAGAGCTCGATGTTGCCGCCGAAGCAGGCCTTGGCCAGCGCCGCCAG___AAACCTCTGTAGAGGAGCAGGATGCAACCGACAGGCTGTGGCCGGACAGCTGCTGCCCAGCACATGGAGCCTGCACGCGCACGGTTTGGCCAAAGAAGCCCCCATACTCCCGGTGAAAAAG___ATTTCCAGAAGCTGTTCTGTCAATAACAAAGTCTCAAAGAAAACCACAAAACCACCAACACTAAGATCATTCTTGAGTCCAATTTGAAAAACTAGGGTCAAGTTCTGCAGAGGCATTGAAAGGACAAGAAACCACCCTGATACCCATCGTGTGAGGGAAAATGCTCTATTCACCATTCCTCAGCTTCTGCTTCTGGTTTCAGAGTTCTCTCTATATTGGAGGGTGTTTTAAAGCTAGAGTGGTCTTTATCCACTTTTATTAACACATCTGAATGTGAAGGTCAAGAGAGGAAAGTGATATGTCCTAAGTCAGAGTAGAGTCAACAAGAAAATAAGACAAACAGCGACTGAGCCCCTGGTGTATACTGGGCATTGGCCAGCTACTGGGGATATGGAGATGAAGAAAACATAACCCTTCTTCAAGGAGCCCAACCTACCAAGGTAGACAGACATATAGACAAATAGATACTTGCATAGAAAAAAAGAGGAAAAGGGGATCAGTGTGACCTGTGTAACTAAGTACCCTATAAACCCTCCTGCAACAGATCATATTGCCCTTTATAGTGGGGATGGTAATCCCATCTGAATTCCACAGGTACTTTGCAGTCATACCACACCCATGTGTCTGTCGGTCCTGACTGTACCATTTATAAACAGCTTCACTTTCAGCAGTTCTCAGCCCTCTTAAGCTAGGGTCATTGTCAGTAGGGATACTGCTTCATAAGCACCAGCAGAACACCAAAGGAGACCATATGGGTGAAAGCAACCAGCACTGCCCTGGCGCTTCATAGGTTCTTAGAGTTTTTATCTTTTACTTTCAGTCTAACACAGCACTGCCTGCTTTTTGTTTTTGTTGCTTGGTTTGTTTTTTTCTTACCGTGTTCACCAAACTTGTGTCCAAATAGCTTTGGGCTGATGCAAAAATATCTATGTGGAAGAGAAGAGTTGTTCTCATGGAGGGCCTTCAGATGAGTGCTATAGACTCTCTAGGCAACTCCAAGAGGCTTCTCAAGCAGGGTGGGCAGTGAGAGCTGCTATGGAATCAATGGACAAACTGACAGGGACTGCTTTGAAAGACAGTACTCAGTTGAGTATATATATTCTCTCTTAAGGGCTAAAAGTTTATAATCATCCCTTAAACACTCTGTGATGGGATCTTCAGGATCATCTTTTGAAGTAAACTATATTTTACAATGTGATATAAATCAAGTGAGTTTTTTTTTTAATTAGGAATTCCCGTAAGTATAAAGCCATTTTAAGATGTACATTTTAGAGACTAGCTATTGTTAAGTGGTCTGTTACATTTGTGTAAACCATAAAGATCTTTCCAGAGGAAGCAAGTCTCTCATACCAGAATATGAAAACACTAGCCCCAGGCTTGAGTAACCTAGATCACATGAAGCTGACTTCCTCTGAGGAGTCTAGGACCTCAGATATAGGTGGGAGCACACAATCACCCTTCTGGAAACAGCTAAGACTTGTGGCTCAGGCGTTTGACCTTGCTGACAAAGGAAGAGGTCAGGGTTGACGAGAGCTCCAGGAAGAATGAAAGTGCCTCTGGAAGGCAGGAAGAAAGTTACTGTAATACTTTATCCTTAGGGTGGAACAAGAGTCTGGGAAAGCTCTGCCCTATAAAGTCCCCTTCCCCATTCCTCCCAGGTCCCAGGTGTGGTGGTATAAGGAGAGTTGGCCCAATCTGGGAGCTGAGGGATCTGAGACATCCATCTACTGCATCAGTGCACTCAGAAGTGAGGATTTTGGCACAGTTATTCATGAGACATCAGCCCATCATATAAAACATGCCTCCAGTTTGGTTAAACTAGGAAGCACTATATAATATTTTAAAATCAGTTACATGTCACTGATAAAAGACTTAGTATTACCATGATGTTATTTTTCTTGAGGCAACATGATGAAACCCATTGTCTACAAAAAATCCAAAAATTAGCCAGGTGAGGTGTGCACCTGTAGTCCCATCTTCTCAGGAGGCTGAGGTGGGAAGACTACTTGAGCCAAGGTGGTGGAGGTTGGAGTGAGCCCAGATTACACCACTTGCACTCCAGCCTGGGCAACAGAGTGAGGCCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAACGATTTTTATGAAAGTTGGAGAACCAGGATTAAGACTGGGTGGGAACTAAGAATGACAGGTACTTTTAACAATACAGCTGGGATGCTGTTGATGACATGAATGAACCCCACTCTTACTGTAGTCATTTGCTCAAGATTCAAAGTCATGAAAAAGAGTAGAATGGACCAAACTTAGGTACTAAGAGTCCCCAGCCTGGCAGTGAAAACAGTATAGTTCCTTTGACTTTAATATGGGGAAACAGGTTCCTGGATTGACGATCTCACCAAAACTATACACAATTTTTTTTTATTTTTTCTCAGACCTTTCAGGGATGAATATATACAATTTCTGAGAAAGAAACCTGAGTACCTTTAGGAAGGGAAAAGGAATGCTGAATATCCCCAAATAACATGTCTTACATGTTTGGTAAGACTTACTGTACCCTGTCCTAGAAGATAGAAGATGCCCTGCCCTTAGAAGACAAAGAGACTGTAGAGCTATGCCTTCTAAATCTTAAGCCACTCTTCAGATAATGGATCCCTTCATGGTCAGCCCAAACATCTCAAGAACTTTTAATTTGTACCGTTTGTCTTTTTTTCCATTTATTTAATACCACAAATTCACTTTATTATTATGAAGCCAATATCTACATCTTCTCACAAAGATTCTCTTAAGAAATGCAGAACTGGCCGGGTGCAGTGGCTCATTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACAAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGCTAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGAAGAATCCCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAGGAAAAAAAAAAAAAAGCAGAACTCCTTACTGGCCTCAAAACATACTGTGACATTTCCGTAACCTACAGGTCTAGAAATCCTGTGCCAAATATGGTTAACTTGTTTGCTGAGAAGGATGTGGAAGAACTGGAACCCTCATACACAGCTGATGGGAAAACAGTCTGGAACTTTCTTAAAACATTCTGGTAAATGGGGGCCCGGCAAGCTAGAAAGTGTGGCTATAATCCCTTGCTTTTTTCCTTTTTTAAACTTTTTCTCTCTCAGTCCTGACCTAAAGATGACCCTAGTCAGGCTGGACACGGTGGCTCACGCCTGTCATC)CCAGCACTTTGGGAGGCCAAGACGGGTGGATCACCTGAAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAACACAAAATTAGCTGGGCGTGGTGGTGCATGCCTATAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAG|TTTGAACAAGTATCCCAAATCATAAGTTTCTGATCATCAGCAACTGACCCAAACAGAGACTCATGGAGCAGATGCCAGGAAACATCTTCTACTACTGCTGTATGCCCTGTAAAGATGATCTTCACATCCACCACTTTTTCC . 01BR043 ENSG00000151746.15 ENSG00000223722.3(28375),ENSG00000188375.5(7689) +/+ ./+ chr12:32216459 chr12:31783496 CDS/splice-site intergenic duplication 2 4 0 600 12 medium out-of-frame . . . . ENSG00000151746.15 . ENST00000652176.1 . downstream upstream . ^(ATCATTCCGCACCGGCTGCTGCAGGGCCAGAGGGAGCAGGTGGAGCGAGAGAGCGAGCCGCGAGCCGGAGCGCGCCAGACCCAGGGCGAGACTGCAGTGACGCGGCCCGGGAGACATGGCGGACGGGCGTCTCTGAATAAGCAGAATCCGGAGCCCCTCGCTACCCGCGGCCGCCGCAGCCCGGGCCATGCCGCACGGCTGCTGACCGCACGCAGGGGCCGGCCCCGAGGACACATGCGGCGGCCTTTGCCGCCTCGCCCCTGACCCTCTGCCCTGTTCTCCATGTTGCATTTCTCGTCAGTTTCTCGGGCGGTGTAGCTGCCGCTGCCACCAGAGCCGGCGGGGCATCGCGCTGCTCATTCATCCGGCCGCACTTTCTTTTCCGTTTCCACCCATCCCTTCCCATTTCCTTCTCCCTTTCCCCGCCAGCTTCGCATCCATCTCCCCCACCCCGTAACCCCCTCCTGCCTCCATCCACCGGGGCTATGGCCGCAGAAGAGGTATTGCAGACGGTGGACCATTATAAGACTGAGATAGAGAGGCTAACCAAGGAGCT)CACGGAGACCACCCACGAGAAGATCCAGGCTGCCGAGTACGGGCTGGTGGTGCTGGAGGAGAAGCTGACCCTCAAACAGCAGTATGATGAACTGGAGGCTGAGTACGACAGCCTCAAACAGGAGCTGGAGCAGCTCAAAGAG___GCATTTGGGCAGTCCTTCTCCATCCACCGGAAGGTTGCTGAAGATGGAGAGACTCGGGAGGAAACGCTTCTGCAGGAGTCAGCATCGAAGGAGGCTTACTATCTGGGGAAGATCTTGGAGATGCAGAACGAGCTGAAACAGAGCCGGGCTGTGGTCACTAATGTACAGGCAGAAAACGAGAGGCTCACCGCAGTCGTGCAGGATCTGAAGGAG|AGATGGAGTCACCCTCTGTTGCCCAGACTGGTCTGGAACTCCTGGCCCGAAGTGATCCTCCCACCTCAGCCTCCAAAAGTGTTgGGATTATAGGGATGAGCCACCACATCCGGCCTGGAATACTGTTATTAAAAAATGTTTCTATTCCTAATCAAAAGCTCCCAGAAGTAATCAATCCCCTCAAACAGAACCAACACAGCTATCAGTTGGGAAACCTGTGGGACTTTCAGACTCTTGAGCAAGGAATTGGATATAATAATGGAACTAAAAAAAGAG MAAEEVLQTVDHYKTEIERLTKELTETTHEKIQAAEYGLVVLEEKLTLKQQYDELEAEYDSLKQELEQLKEAFGQSFSIHRKVAEDGETREETLLQESASKEAYYLGKILEMQNELKQSRAVVTNVQAENERLTAVVQDLKE|rwshpllprlvwnswpevilppqppkvlgl* 01BR043 ENSG00000237356.7 ENSG00000131979.19 +/+ -/- chr14:53218055 chr14:54865436 exon/splice-site CDS/splice-site inversion 4 0 0 10 70 medium . . |GTP_cyclohydrolase_I(100%) . . ENSG00000237356.7 ENSG00000131979.19 ENST00000663444.1 ENST00000622544.4 downstream downstream . ^(ACACGGGGAGGCGGCTGAGGCCCAGCAAGAATTCAAGCTCCGCGGGGGCAGGCCAGCAGTGCTGGGGGACCCGGCGCACCCTCCGCAGCTGCTGGCCCGGGTGCTAAACCCCTCACTGCCCGGGCCGGCGGTGCCGGCGGGCTGCTCTCAGTGCGGGACCTCGGAGCCTGCGCCCACCCGGAACTAGCCGCGTTCAGCCCTGGTTCCCGCCCCCGCCTCTCCCGCCA)CACCTCTCCACAAGCAGAGGGAGCTGGCTTCAGCCTCAGCCAGCACAGAGAGGGGCCCCCATAGCGCAGTGGCGGGCTGAAGGGCTCCTTGAGCATGGCCAGAGTGGACGCCAAGGCTGAGGAGGCGCCGAGAGCCAGTGAGGGCTGCTAGCATGTTGTCACCTCTCAATACAT|ATGTCCTAAACGATGCTATATTTGATGAAGATCATGATGAGATGGTGATTGTGAAGGACATAGACATGTTTTCCATGTGTGAGCATCACTTGGTTCCATTTGTTGGAAAG(___GTCCATATTGGTTATCTTCCTAACAAGCAAGTCCTTGGCCTCAGCAAACTTGCGAG___GATTGTAGAAATCTATAGTAGAAGACTACAAG___TTCAGGAGCGCCTTACAAAACAAATTGCTGTAGCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC___ACACATGTGTATGGTAATGCGAGGTGTACAGAAAATGAACAGCAAAACTGTGACCAGCACAATGTTGGGTGTGTTCCGGGAGGATCCAAAGACTCGGGAAGAGTTCCTGACTCTCATTAGGAGCTGAGCTTCATTCAGTGTGTGTGCGTTGGTTGCCGATCGTACTGCCAGTAGCATTGTCTGTCTGTCCGGTCTTGTTTGTACATTCCATTTTCAATTGTTACAGATGTGAACTTTATTCCTTGTCACTAATTATATTTAAAATTATTTCTAGGAAGTCAAATAAATATAATAAAGGGTTGAGCCCTCTACTTTCTTCTTGCCACCTTTTTGTGGCAATATTAAAGTGAACTGCTAATAGTGTAAGTACGTGCACAAAACCACTGCCAGATAACCAGAGGGGCCTGGGAAGGGAGAAGAATTAGTGTATTTTTTTCAAATAGTACAGTAATTTGCCTCATAAGCATAGGAGCATTGGGAATGAGAGGGAACTGTGCCCAGTATACTGTTTTTTTTCTTCCTCCAATAAAAGTGGTGTAGTGCCGAAAGTGCTAAAATATTTAGTGCGGTATTGCTCTGTGAATTCAAGTTCAACAGACTTCACTTTGGTCATGTTTATTAAACCACCAGTGACATTTAAAAATATATTTTTAGCAGTCGTAATGTTAGTCACCAAGGGAAGGTGGTGGAATGTCTATGTTTTTGATTTTACTGTGAGTTAAAAAGGCACATTTCTACCTTCTATTGTTTTTAAATTCAAGAATAGGGAATTAGTTCCTGGTGTTGTTTACGAGTGTATTCTCGTGTCAACATACAGGGATTTAGACATTTAACTCTCTGTGCCTTGATAAGAATATCATTTAGAGTGTAGATACTTTTGCCTTTTTAAAAAAGCCATTATTTTATGAGACTTAGTACTCACACTGCAAATAACTAGTCAGCTCAGTTTTAACTTTATAGGTTTATTGAGTTTCCTTTGTGTGATCCATGTAGATGCCTCAAAATGTTTCTTCTTCTTCTTTTTTTTAATCTTATAAGATATTTTTCTAAGTATTTCCAGAAACATTTGAGAGTGCCCATCATTTTCAGGTCTGCAGAACCATAGCTTCCACGCACCTGAACGAGCACAGAATGAACTGACGGTGGAAGACATTATGAGCTGTGTCCAACGTTTTAACCAAAGCGTATCGTACCAACGATCTGTGAAAATGCACTGGAAGCTTCTGGTCCCGGTTTCCTTTGTGGTCTATGTGGGTCTTGTCCTCATTGTAACTCCGTATAGATGGTATAGGTATTTTAATCCTGGAAGCTGTTGCCTTATTAATGATTATCTTAAAATTTCCTCCATTGGGGCAGCGTGGGCCAAATTAAAACAAACAAAACCGCAACTCCTCCACAGAAACACAAACACAGTTATTCCATGAAGTTTAGTATTTGGTTGACATAGTGCTCTTCAAATTCATCCCATTACCCTAAAAGTAATAACTTTGATGCTTGCTTTAACTTTAGTCCCATCTCTGCCACTTTGATGCTATTTGGGTTATGATGGGGCAAGATGGCAGAGGTATTGGGTTTTTTTGTTTTTTTCCATTCCTCTCTACTTCTGTTTCCTAGCTTTTTCTTTCTGGAGTTTAAGTACAGTGATGGTTGGCTTGAGTACCTTTTTAAATCTAGCCCAGTATAAACATTAGCCTGCTTAATATTTAGACATTTATAGGTAGAATTCTGAGCACTCAACTCATGTTTGGCATTTTAAAGTAAAAACAAGTGTGACTTCGAGGACCAAAGAAATTGTCAGCTATACATTTATCTTTATGAACTCATTTATATTCCTTTTTAATGACTCGTTGTTCTAACATTTCCTAGAAGTGTTCTTATAAAGGTCTAATGTATCCACAGGCTGTTGTCTTATTAGTAAATGCAAAGTAATGACTTTGTCTGTTTTACTCTAGTCTTTAGTACTTCAAAATTACCTTTTCATATCCATGATCTTGAGTCCATTTGGGGGATTTTTAAGAATTTGATGTATTTCAATACACTGTTCAAAATTAAATTGTTTAATTTTATGTATGAGTATGTATGTTCCTGAAGGTGGTCCTATTTAAATTATTAAACTATTGTAACTTTGTTCTTGTG)$ . 01BR043 ENSG00000156030.13 ENSG00000140043.11 -/- +/+ chr14:73787102 chr14:73860539 5'UTR/splice-site CDS/splice-site inversion 0 4 0 17 157 medium . . |N-terminal_domain_of_oxidoreductase(100%),Zinc-binding_dehydrogenase(100%) . . ENSG00000156030.13 ENSG00000140043.11 ENST00000394071.6 ENST00000555661.5 upstream upstream . ^(GCTGGGTCACAGCCCGGGCCGCACAGCCCGGGCCGCACCGCCCGCTCCGCGAGGAAGT)GACGACTGCGCCGTCCCGAGAGCAACAAAGTTAGAGTCTGCGGGCCGCACTCGCCTGCGCCCCGCACCCCTCCGAGCAGCCCGGGGATCCAGCACGCAG|GAAAAAATGGTAATCCAGTGGCAGAGAATTTCCGAATGGAAGAAGTCTATTTACCAGATAATATTAATGAAGGACAAGTACAAGTTAGAACTCTTTATCTTTCTGTGGATCCTTACATG___CGTTGTAGAATGAATGAAGACACTGGCACTGATTATATAACACCTTGGCAGCTATCTCAAGTCGTTGATGGtGGAGGTATTGGAATTATAGAAGAAAGCAAACACACAAATTTGACTAAAG(GCGATTTTGTGACTTCTTTCTATTGGCCCTGGCAAACCAAGGTTATTCTGGATGGAAATAGCCTTGAAAAG___GTAGACCCACAACTTGTGGATGGACACCTTTCATATTTTCTTGGAGCTATAGGTATGCCTGGTTTGACTTCCTTGATTGGGATACAGGAAAAAGGTCATATAACTGCTGGATCTAATAAGACAATGGTTGTCAGTGGGGCCGCAGGTGCCTGTGGATCTGTGGCTGGGCAG___ATTGGCCATTTCTTAGGTTGTTCCAGAGTGGTGGGAATTTGTGGAACACATGAGAAATGCATCCTCTTGACCTCAGAACTGGGCTTTGATGCTGCAATTAATTATAAAAAAGACAATGTGGCAGAACAGCTCCGTGAATCATGCCCAGCTGGAGTGGATGTTTATTTTGACAATGTTGGTGGTAACATCAGTGATACAGTGATAAGTCAG___ATGAATGAGAACAGCCACATCATCCTGTGTGGTCAAATTTCTCAGTACAACAAAGATGTGCCTTATCCTCCCCCGCTATCCCCTGCTATAGAGGCAATCCAGAAAGAAAGAAACATCACAAG___GGAAAGATTTCTGGTATTAAATTATAAAGACAAATTTGAGCCTGGCATTCTACAGCTGAGTCAGTGGTTTAAAGAAGGAAAGCTAAAG___ATTAAAGAGACGGTAATAAATGGGTTGGAAAACATGGGAG___CTGCATTCCAGTCCATGATGACAGGAGGTAACATTGGAAAGCAGATAGTTTGCATTTCAGAAGAAATCTCTTTGTAATTGCTGTAAATGTCATCAAGGCAATCATAGATTTCTTTTCCATTTTGCATATTTTCAAAGATATGTTAAAAAATCCTTAGACTATACATAGCTCTTGATTTAAATGTGATCATAGGTGTTATTTTTAGTTGCATAGGGTATTTGATACAATCATTAATGGATCATACACAATAGGTTTTTAAAAATTAATAACTTTTAGTAATTACTTTTATTAATTTAAAATAGAACGCTTGAGAGGCACTTTGTAAAGATTTGTTAAACTGGAAACGTTTTACATGATCTGATACAACCATTAATGAATCATACACAATAGGTTTTTTAAAATTAATATTAATAACTTTTATTAATTTAAAATAGAATGCTTAAAATAAAATAGAATGCTTGAGAGGCACTGAGTAAAGATTTGTTGAACTGGAAATGTTTTACATGATTCTTAAACTGAAACTTGGTGTAAAAATAGAATTGAGATGGCCTTTTTTTCACATTGTAGACTGAAAAGAGACTTAATGGTATGATGTGTACATAGGGACTGGGGGCAGGATTGGGGGTTTCGGAGCTTGTGTAACAGTTTTTGGGATAGGAGACCAGCGGTTTTGGGTTGGGATTAGTATGGGAAGATAAATAACTTAGGTTGGTTAAGTTGACAAGATTTACTCCAGAGGATCATCTCTTTGTATTTGCCAAATAATTTACTGTATAGCCTAAAAACTCCATATATATTGAGAAAAGCATATGTTTATTTTAGGTTAGCAGGCACATACTGTCAAGTTGTAAAGATTGAGAGGGCAAACAGATGTAAACATCACTTGTAGGTGATTAAAAAGATTGACAGCCGGGCCTGATGTCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAACCCCATCTCTCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCATTTGAACCTGGGAGGGGGAGGTTGCCGTGAGCTGAGCTTGCACCATTGCACTCCAGCCTGGGCGACAAGAGTGAAATTCCATCTCAAAAAACAAAAACAGATTGACAACAAAGACAGTTTCAGAAAATGACAGGACTGGGCAAATTAACAAATGTTTGTAAACATGAATGTTCAGGAACTACTGATGTACCTCAAAAGTTTGTTTTATTAATTGTACTCAACCCTCGCAGAACAGTAAAACTGAAGATTATTGTTTCTGAATGTTTTGGCTTATGATTGTCTACACACTGCCAATATACTTTTGTATGCAACATTTGTAATAAGTAGATTCAAACTGTGTTGGTAATCAGCCTCCCCAGTTTTCGTGAGTGGCCCTTTTTTGTTACTTTTCCTGGACCATTTCATCGCCTGAGGGGGTTTCACTTTTCTCTGTATGTTGCTAACTCCCAAATCTCCATCTGTATTTCTGACCTCTTTCTTGAGCACTGGACCTTTACCTCCAAGTAAATATCCTCAACTCTGGATTGCATCTTATACTCTGCTTTTTTCTTTTCTTTTCTTTTTTGAGATGGAGTCTTGCTCAGTCGCCCGGCGTGCAGCGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGCGCGTGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAGACGGGTTTTCACGGCGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACGGAGTCCGGCCTACTCTGCTTTTCTAAAGTGGAATTATCTTCCTCTGAAATGTTTCTCCTTTATTTTAAATCACCATTAGTAATTTGTGTACCCAAACCTGTCATCAAGGCTTATCTTTAACCTTGAAAATGCCTTTTTAAAGAGAACTCCTTTAATTCCCACGGTTGAGTCTCTCATTCTTCCGCACGCAAATATTTTAAAATAAGTAATTTCAAGAAGTCAGTCAAACTCACAAAGCTTTAACAAGGTGGCATCCAGCTTGGAAGTCAAGTGTTCAAGCCCGCAGTCGGGACATCCAAGAGCTCTTTACATCCTAATTACAACACGGAACCCAGACTCACTGCATACCCCGTCCCGTATATAATGCAAAACTTGATTCTGCAAGTTCCTTTCTCGGGCGGTGAAACTTCGAAGGTCCTCTCCATGGAGACCTTTGATAAATGTTTAAGCAGTGATCTTTTCTTTCGCGTTTGCCTCCATTGCAACGCCTCCGCTGATGGGAAAAACTACTCCCTCCGCTACTGCGGGGTGGCAGTGACGTCAACGAATTAGCTGACCTGTTTTTTCGGGCTTCGCGGACATAGGAGTCCCGAAGGCCGAGAGTGAGTGAGTGAGTGGGAGCGGGGCGGCTGCGGCTCCTCCTGTCCGGGGCGGAGCCCTGCGTCGCGGGCCTGGGGAGGCCCCGCCAGCACCCTTGACGTCTGGGTCCCGAGCAGTGCGGCAGCCACACGACACTGAGGCGAGCGAGTGGGTGTGTGCGTGGGGGGTCAGCCAAACTTCCTGTCCCGCGCTC)$ . 01BR043 ENSG00000133985.3 ENSG00000237356.7 +/+ +/- chr14:70671115 chr14:53584190 CDS intron inversion/3'-3' 2 1 0 66 3 medium out-of-frame . Tetratricopeptide_repeat(100%)| . . ENSG00000133985.3 ENSG00000237356.7 ENST00000256367.3 . downstream downstream duplicates(2) ^(GTCCGAGGCGGCGGCGGCGGCGGCTGGAGCAGCCTCTGGCAGCAGCGGGGAGAATGGGAGTGCGGGGCGCCAGACCGCCGCGGGGTGTCACGGCCGCCACGAAGCCTGCGAGGCGCGGGGCCGGCGCCCGCGGCTTTTAAACCCGGGAAGGCGCGGCGGCGGCGGCGGCGGCGGGCAGATCGCGGCGCGCACCAGGCGCCGGGGCGGCGGCCGAATGGAGAGAAAGGGCTCGGCGGCCGGGGCCAAGGGGAACCCGAGCCCGCCCGCGGCCGGAGAGGGGCAGCGGCCACCGCCGCCGCTGTGCGTCCCGGGCGGCGGCGGAGGAGCCCCAGCGAGGGGCCAGGTCGGGGCGGCGGCCGAGCCGGCCGAGCTCATCCGACGAGCGCACGAGTTCAAAAGCCAAGGGGCGCAGTGCTACAAGGACAAGAAATTCCGTGAAGCCATAGGCAAATACCACCGGGCGTTGCTGGAGCTGAAGGGGCTGCTGCCGCCCCCCGGGGAACGGGAGCGGGACTCGCGCCCGGCCTCCCCGGCTGGGGCCCTGAAGCCCGGCCGCCTCTCGGAGGAGCAGAGCAAGACGGTGGAAGCCATCGAGATCGACTGTTACAACAGCCTGGCAG___CCTGCCTGCTCCAGGCTGAGCTGGTAAACTATGAACGAGTCAAGGAATATTGCCTCAAAGTCTTGAAGAAGGAAGGGGAGAACTTCAAGGCCCTTTACCGGTC)TGGTGTGGCCTTCTACCACCTTGGGGACTATGACAAAGCACTCTACTACCTGAAAGAAGCAAGGACCCAACAACCAACAG___ACACCAACGTGATTCGGTATATCCAGCTGACGGAGATGAA|CGTCCTAGTGAGGTTTCCATCTTTAAAAAGGGTCCCTTGATGGTTTGTTTCCACCAGGGCATCAGAGACAGCAGCCTGCTCTCAC MERKGSAAGAKGNPSPPAAGEGQRPPPPLCVPGGGGGAPARGQVGAAAEPAELIRRAHEFKSQGAQCYKDKKFREAIGKYHRALLELKGLLPPPGERERDSRPASPAGALKPGRLSEEQSKTVEAIEIDCYNSLAACLLQAELVNYERVKEYCLKVLKKEGENFKALYRSGVAFYHLGDYDKALYYLKEARTQQPTDTNVIRYIQLTEMn|vlvrfpslkrvp* 01BR043 ENSG00000024422.12 ENSG00000243829.1 +/+ -/+ chr19:47736533 chr19:49719457 CDS/splice-site exon deletion/5'-5' 3 0 0 134 5 medium out-of-frame . Dynamin_family(100%),N-terminal_EH-domain_containing_protein(100%)| . . ENSG00000024422.12 ENSG00000243829.1 ENST00000263277.8 . downstream upstream duplicates(1) ^(AGACGGCTCCGGACGGGACCGCGAGCACAGGCCGCTCCGCGGGCGCTTCGGATCCTCGCGGGACCCCACCCTCTCCCAGCCTGCCCAGCCCGCTGCAGCCGCCAGCGCGCCCCGTCG___GCAGCTCTCCATCTGCACGTCTCTCCGTGAACCCCGTGAGCGGTGTGCAGCCACCATGTTCAGCTGGCTGAAGCGGGGCGGGGCACGGGGCCAGCAGCCCGAGGCCATCCGCACGGTGACCTCGGCCCTCAAGGAGCTGTACCGCACGAAGCTGCTGCCGCTGGAGGAGCACTACCGCTTTGGGGCCTTCCACTCGCCGGCCCTGGAGGACGCAGACTTCGACGGCAAGCCCATGGTGCTGGTGGCCGGCCAGTACAGCACGGGCAAGACCAGCTTCATCCAGTACCTGCTGGAGCAGGAGGTGCCCGGCTCCCGCGTGGGGCCTGAGCCCACCACCGACTGCTTTGTGGCCGTCATGCACGGGGACACTGAGGGCACCGTGCCCGGCAACGCCCTCGTCGTGGACCCGGACAAGCCCTTCCGCAAACTCAACCCTTTCGGAAACACCTTCCTCAACAG___GTTCATGTGTGCCCAGCTCCCTAATCAGGTCCTGGAGAGCATCAGCATCATCGACACCCCGGGTATCCTGTCGGGTGCCAAGCAGAGAGTGAGCCGCG___GCTACGACTTCCCGGCCGTGCTGCGCTGGTTCGCGGAGCGCGTGGACCTCATCATCCTGCTCTTTGATGCGCACAAGCTGGAGATCTCGGACGAGTTCTCAGAGGCCATCGGCGCGTTGCGGGGCCATGAGGACAAGATCCGCGTGGTGCTCAACAAGGCCGACATGGTGGAGACGCAGCAGCTGATGCGCGTCTACGGCGCGCTCATGTGGGCGCTGGGCAAGGTGGTGGGCACGCCCGAGGTGCTGCGCGTCTACATCGGCTCCTTCTGGTCCCAGCCCCTCCTCGTGCCCGACAACCGGCGCCTCTTCGAGCTGGAGGAGCAGGACCTCTTCCGCGACATCCAGGGCCTGCCCCGGCACGCAGCCTTGCGCAAGCTCAACGACCTGGTGAAGAGGGCCCGGCTGGTGCGA___GTTCACGCTTACATCATCA)GCTACCTGAAGAAGGAGATGCCCTCTGTGTTTGGGAAGGAGAACAAGAAGAAGCAGCTGATCCTCAAACTGCCCGTCATCTTTGCGAAGATTCAGCTGGAACATCACATCTCCCCTGGGGACTTTCCTGATTGCCAGAAAATGCAG|GAAAACGAGACAATCCAGCAGCCCAGGAGGGACAGGTGGACTTAATCCTCCTCCTCGTCGTCTCCAGCCCCACCCTCACCCTGGCCCTTCTTGGCGTTCTTCCTCTTCACGCGGCCGGGGCGGC MFSWLKRGGARGQQPEAIRTVTSALKELYRTKLLPLEEHYRFGAFHSPALEDADFDGKPMVLVAGQYSTGKTSFIQYLLEQEVPGSRVGPEPTTDCFVAVMHGDTEGTVPGNALVVDPDKPFRKLNPFGNTFLNRFMCAQLPNQVLESISIIDTPGILSGAKQRVSRGYDFPAVLRWFAERVDLIILLFDAHKLEISDEFSEAIGALRGHEDKIRVVLNKADMVETQQLMRVYGALMWALGKVVGTPEVLRVYIGSFWSQPLLVPDNRRLFELEEQDLFRDIQGLPRHAALRKLNDLVKRARLVRVHAYIISYLKKEMPSVFGKENKKKQLILKLPVIFAKIQLEHHISPGDFPDCQKMQ|enetiqqprrdrwt* 01BR043 ENSG00000198331.10 ENSG00000166930.7 +/- +/- chr11:125887187 chr11:60435191 5'UTR intron deletion 1 2 0 22 3 medium . . . . . ENSG00000198331.10 ENSG00000166930.7 . . upstream downstream . CTAACGGTCTGCCACTTCATTGGAATCAGCCTCCGCCCTTCTCAACTGGCTGCTGCGGGGCCAGTGGTGCCGGGAGACGAGGGCGGGCGCTCAGGGACGGTTCGAACAGTCTGGG|ATAGACTTCGGTTTTGCTTCTGCCAGGTACCAGGGGCACCACATACCAAGACCAAATTCAG___ATTTCTTAATAGATGAAGGGAAATAAGCAGCAACGGCATCATCTCAGAACTTTGGTATCCCACCTAATGATAGATGAGAGTAATCTGCC . 01BR043 ENSG00000205659.11 ENSG00000282826.2 +/+ -/- chr14:74101238 chr20:28601839 CDS/splice-site intron translocation 2 1 0 161 2 medium out-of-frame . . . . ENSG00000205659.11 ENSG00000282826.2 ENST00000555028.6 ENST00000650751.1 downstream downstream . ^(AACATCCGCGTAAGGGGCGTGGCTATACTTAGGGGCGGGGCTAGGCAAAGATTGCCCTATGAGGCGAGGGAATGAGACTGGGCTGCGAGTTGGGGATAGGGTTTCTCTTTGGGGGCGTGGCTTATGGAACCTCGTTTTCCCGCCGACGGTTGGCCACGTCACGTGACATGGGTTGGAAGATGGCGTCTCCCACAGACG___GGACAGATCTGGAAGCATCTTTGCTAAGTTTTGAAAAACTTGACCGTGCCTCACCAGATCTTTGGCCAGAACAAT___TACCAGGTGTTGCTGAATTTGCAGCTTCCTTCAAAAGT___CCTATTACTAGTTCTCCACC)CAAATGGATGGCTGAGATAGAACGTGATGACATCGACATGTTGAAAG___AACTGGGGAGTCTCACCACGGCTAATTTGATGGAGAAGGTTCGAGGCCTACAGAACCTAGCCTATCAGCTGGGGCTGGATGAGT|ATTTGCCCGAGGTTGACTGTACATACAAATATTGAGCATTTCCTCCTGGTCTCCGTGATAAACAGAGGTTTTGATATTgTTcGGCGAGATGGAAAGAAAGTA(TCAAGGAGTGAGCTGAAGCCACTGCCCTTGAGAACCCTCTCGAGGAGTCTGGGCTCATGAGGATGCCAGAATAAGTGGCAGGTATATCCTGAATGAATGTGAGATTTTTACTCTGTGAATTTCCTGTGAGGAGTG___TAAGAAGAAAAAGAACAAAGATAAGAAAAGAAAAAGAGAAGAAGATGAAGAAACCCAGCTTGATATGTTG___GAATCTGGTGGACAGTAACAAACTTTGGTGAAATTTCAGGAACCATAGCCATTGAAATGGATGAGGGAACCTATATACATGCACTCGATAATGGTCTTTTTACCCTGGGAGCTCCACACAAAGAAG___TTGATGAGGGCCCTAGTCCTCCAGAGCAGTTTTCGGCTGTCAAATTATCTGATTCCAG___AATCACCCTGAAATCTGGCTATGGAAAATATCTTGGTATAAATTCAGATGAACTTGTTGTTGGGCGTTCAGATGCAATTGGACCAAGAGAACAATGGGAACCAGTCTTTAAAATT___GGGAAAATGGCTTTGTCGACCTCAAATAGCTGCTTTATTAGATACAGTGAAGCAGAGGACATAGAAGCAAAAAGTAAAACAGCAGGAGAAGAAGAAATGATCAAG___AGTCTCAGTCATAGCCTGCCTTCATCTCTGAAGGGACCAGGCGACCCACGGAGTGCCTCGGCAGCCTTGTTATTGCATGCAATCTTCACAGACAAGATCTCACTGCAACCAGGTTTCTACAGGAGCACAGGTGTGACATTATAGTGATGACATCATTCTCAGAGAAAATTCATTTTACGCACTAAGGACACACAGATACAAGGAGGCTTACACAAAGGGAATGGACCTTTCCACAACACAGATGTGCAAGGCCCTGCCACTTTGCTTCAATTCCTGAAAATTCCTTGGTAAACATGGAGCTACTCTATTCCTGACACTTTCAAGAAATAGTTATTGATCCTCTCAGCGTCCACAATGTTAATACAAGCCCAACATTCTTTAATTTGTGTTTTGTTTTTTGGAGGCACAGTCTTGCTCTGTCACCCAGGCTGGTATGAAGTGGCACGATTTCAGCTCACTGCAGCCTCGACCTCCTGAGCTCTAGCAATTCTCCCATCTCGGCCTTCCAAGTAGCTAGGACTGCAGGTGTGTGCCACCACACTCAGCTAATTTTGTTTATTTTTTTGTAGAGAAAACGTCTCGCTATGTTACCCAGACTGGTCTCAAACTCCTGGGCTGAAGCGATCCTCTTACCTCGGCCTCCCAAAGTTCTGGGATTACAGGTGTCAGCCACTGTTCCCAGCCCTTTAATTCTTTACTTGGGGTTCAGGTGACAACATATTTCTTATTTACAAATCTTACTTAATCTCACTGATGCTTTCTGTCATTGGCTAACTGATCCACCTTGAATGAAGCCTCCTCCAACAAGTCTGGAATCTGTCCAAATCTAAATTAACAGGTGCGCCTATGAATTCCCTCAGAGAACACACTGTGGATGCTTTAGCAACCTCTTACCATGCCTCCTGAAGTATCTGGATTGCATATGGTGGCCATAAGTAGTCCATGGGCTTCTGATGTAAAAAACAAACCTGCCCCTTTTCACTGTGTTCTGTACAGCATCAGGGCAGTTATTGCTGACCACATACTGGACCCTCTGGAAACAGAGGGCTCTGCATCCATGTCCACGAGCCTTCATGCCCATCTGGCCATCAGGCCTTGGGAAGCAGCACCCCACAGCCTTGGCACAGCTACAGAGACCTCCTTGCCTCAGGATGGAGTCAAACCTGGACCCCCTGCCATTCTCATCTGCAGGAAACACTGGCCTCCTTCATCCTCAGGCTGTGTTGCTGGAAGTCACCCATCTCCGAGGCCCCTTGGGATCGACTGAGTGACCAGCAGTGAAGTTCATCCACCTTCTGAATGGATGCCATCATCTGAAGTGATGGAGCTCAGTGGGATGTTGTTGCGGTCTTCCCTCCCTTAGCCAGGATGTCCCTGATAAAGGATGACACCCAAGCCTCAGCACAACTGGCCAAACTTGAGGTGGTCATCTCAGCACTGATGCTGGGCCAACAATTAGCCCCATTTGTACATTTTTACAAATTTTTGGCAATTGCCAAGAATTATCCACCTTCCCTCCCCATTGAATTAAAGAAACTTCTTGCCTCATGG)$ MASPTDGTDLEASLLSFEKLDRASPDLWPEQLPGVAEFAASFKSPITSSPPKWMAEIERDDIDMLKELGSLTTANLMEKVRGLQNLAYQLGLDE|ylpevdctyky* 01BR043 ENSG00000120071.14 ENSG00000214425.8 -/- -/- chr17:46170855 chr17:45545676 CDS/splice-site exon/splice-site deletion 0 2 0 104 6 medium out-of-frame . . . . ENSG00000120071.14 ENSG00000214425.8 ENST00000574590.6 ENST00000581296.2 upstream downstream duplicates(2) ^(GGGCGGAAGATTCCCCGCCCCCACTTCTAGGCTTGGTTGAACCGTGCAG___ATACCTTCTCGAAACAAAAGATTTTCCTACCTGCTTATACTTGGTAACCGAGGGAATTACTAAGACTTCTTGCTCATTTCTGAGTATTGTCTTTATATCCTGACACTATGAATGCTACTTGGATGCCTCTTAAG___TCTGTTCTCTGGGGAGGCAGTAAGGGGCCGTGGAGCTGGCCTCGGCCTCGGCATCGGGAGAGGCTGGACTTCCTGTCTCTCTGTGCTGAATGGCTGCGATGGCGCCCGCTCTCACTGACGCAGCAGCTGAAGCACACCATATCCGGTTCAAACTGGCTCCCCCATCCTCTACCTTGTCCCCTGGCAGTGCCGAAAATAACGGCAACGCCAACATCCTTATTGCTGCCAACGGAACCAAAAGAAAAGCCATTGCTGCAGAGGATCCCAGCCTAGATTTCCGAAATAATCCTACCAAGGAAGACTTGGGAAAGCTGCAACCACTGGTGGCATCTTATCTCTGCTCTGATGTAACATCTGTTCCCTCAAAGGAGTCTTTGAAGTTGCAAGGGGTCTTCAGCAAGCAGACAGTCCTTAAATCTCATCCTCTCTTATCTCAGTCCTATGAACTCCGAGCTGAGCTGTTGGGGAGACAGCCAGTTTTGGAGTTTTCCTTAGAAAATCTTAGAACCATGAATACGAGTGGTCAGACAGCTCTGCCACAAGCACCTGTAAATGGGTTGGCTAAGAAATTGACTAAAAGTTCAACACATTCTGATCATGACAATTCCACTTCCCTCAATGGGGGAAAACGGGCTCTCACTTCATCTGCTCTTCATGGGGGTGAAATGGGAGGATCTGAATCTGGGGACTTGAAGGGGGGTATGACCAATTGCACTCTTCCACATAGAAGCCTTGATGTAGAACACACAACTTTGTATAGCAATAATAGCACTGCAAACAAATCCTCTGTCAATTCCATGGAACAGCCGGCACTTCAAGGAAGCAGTAGATTATCACCTGGTACAGACTCCAGCTCTAACTTGGGGGGTGTCAAATTGGAGGGTAAAAAGTCTCCCCTGTCTTCCATTCTTTTCAGTGCTTTAGATTCTGACACAAGGATAACAGCTTTACTGCGGCGACAGGCTGACATTGAGAGCCGTGCCCGCAGATTACAAAAGCGCTTACAGGTTGTGCAAGCCAAGCAGGTTGAGAGGCATATACAACATCAGCTGGGTGGATTTTTGGAGAAGACTTTGAGCAAACTGCCAAACTTGGAATCCTTGAGACCACGGAGCCAGTTGATGCTGACTCGAAAGGCTGAAGCTGCCTTGAGAAAAGCTGCCAGTGAGACCACCACTTCAGAGGGACTTAGCAACTTTCTGAAAAGCAATTCAATTTCAGAAGAATTGGAGAGATTTACAGCTAGTGGCATAGCCAACTTGAGGTGCAGTGAACAGGCATTTGATTCAGATGTCACTGACAGTAGTTCAGGAGGGGAGT)CTGATATTGAAGAGGAAGAACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT|AAATTTCCAAGGAAACTATATTTCTTACATTGATGGAAATGTATGGAAAGCATACAGTTGGACcGAGAAACT(___AATTCTCAGAGAAAATAACTTGACTGAATTACACAAGGATTCATTTGAAGGCCTGCTATCCCTCCAGTATTT___AGATTTATCCTGCAATAAAATACAGTCTATTGAAAGACATACATTTGAACCACTACCATTTTTGAAGTTTAT___AAATCTTAGTTGCAATGTAATTACAGAACTCAGCTTTGGAACATTTCAGGCCTGGCACGGAATGCAGTTTTTACATAAGTT___GATCTTACCTAGCCATATGGCCTGCTGCCTCTGCCAACTTAAAAACAGCATTGAGGCTGTCTGCAAGACAGTCAAGCTGCATTGCAACAGTGCATGTCTGACAAACACCATACATTGTC___CTGAAGAAGAATCTGTAGGGAATCCAGAAGGAGCATTCATGAAGATGTTACAAGCCCGGAAGAATTACACAAGCACTGAGCTGACTGTTGAGCCGGAGGAGCCCTCAGACAGCAGTGGCATCAACTTGTCAGGCTTTGGGAGTGA___TTTGAAATTCAGCTAACCCAGCAGCTACAGTCCCTTATCCCCAACAACAATGTGAGAAGGCTCATTTCTCATGTTATCCGGACCTTGAAGATGGACTGCTCTGGGGCCCATGTGCAAGTGACCTGTGCCAAGCTCATCTCCAGGACAGGCCACCTGATGAAGCTTCTCAGTGGGCAGCAGGAAGTAAAGGCATCTGAGATAGAATGGGATACGGACCAATGGAAGACTGAGAACTACATTAATGAGAGCACGGAAGCCCAGAGTGAACAGAAAGAGAAGTCGCTTGAG___CTGAAGAAGAATCTGTAGGGAATCCAGAAGGAGCATTCATGAAGATGTTACAAGCCCGGAAGAATTACACAAGCACTGAGCTGACTGTTGAGCCGGAGGAGCCCTCAGACAGCAGTGGCATCAACTTGTCAGGCTTTGGGAGTGAGCAGCTAGACACCAATGACGAGAGTGATGTTATCAGTGCACTAAGTTACATTTGCCATATTTCTCAGCAGTAAACCTAGATGTGGAATCAATGTTACTACCGTTCATTAAACTGCCAACCACAGGAAACAGCCTGGCAAAGATTCAAACTGTAGGCCAAAACTGGCAAAAAGTGAATAGAGTCCTCATGGGCCCAATGAGCATCCAGAAAAGGCACTTCAAAGAGGTGGGAAGGCAGAGCATCAGGAGGGAACAGGGTGCCCAGGCATCTGTGGAGAACGCTGCCGAAGAAAAAAGGCTCGGGAGTCCAGCCCCAAGGGAGCTGGAACAGCCTCACACACAGCAGGGGCCTGAGAAGTTAGCGGGAAACGCCATCTACACCAAGCCTTCGTTCAGCCAAGAGCATAAGGCAGCAGTCTCTGTGCTGACACCCTTCTCCAAGGGCGCGCCTTCTACCTCCAGCCCTGCAAAAGCCCTACCACAGGTGAGAGACAGATTGAAAGACAACACACACTATTTCCATTTTAGAAAGTGCAAAGGCTAGAGTTACAAATATGAAGGCTTCTAAACCAATTTCACATTCCAGAAAAAAATACCGCTTTCACAAAACTCGCTCCGCATGACCCACAGAACACCCAAGGTCAAAAAGAGTCCAAAGTTCAGAAAGAAAAGTTATCTGAGTAGACTGATGCTCGCAAACAGGCCTCCGTTCTCTGCAGCGAAGAGCCTCATAAATTCCCCTTCACAAGGGGCTTTTTCATCCTTAGGAGACCTGAGTCCTCAAGAAAACCCTTTTCTGGAAGTATCTGCTCCTTCAGAACATTTTATAGAAACCACTAATATAAAAGACACAACTGCAAGAAATGCCTTGGAAGAAAATGTTTTTATGGAAAACACTAACATGCCAGAAGTCACCATCTCTGAAAACACAAACTACAATCATCCTCCTGAGGCAGATTCCGCTGGGACTGCATTCAACTTAGGGCCAACTGTTAAACAAACTGAGACAAAATGGGAATACAACAACGTGGGCACTGACCTGTCCCCCGAGCCCAAAAGCTTCAATTACCCATTGCTCAGTTTGAAATTCAGCTAACCCAGCAGCTACAGTCCCTTATCCCCAACAACAATGTGAGAAGGCTCATTTCTCATGTTATCCGGACCTTGAAGATGGACTGCTCTGGGGCCCATGTGCAAGTGACCTGTGCCAAGCTCATCTCCAGGACAGGCCACCTGATGAAGCTTCTCAGTGGGCAGCAGGAAGTAAAGGCATCTGAGATAGAATGGGATACGGACCAATGGAAGACTGAGAACTACATTAATGAGAGCACGGAAGCCCAGAGTGAACAGAAAGAGAAGTCGCTTGAG___CTCACAAAAGAAGTTCCAGGATACGGCTATACTGACAAACTCATCTTGGCATTAATTGTGACTGAAATACTAATGATTTTGATTATACTTTTCTGCCTCATTGTG___ATGTGTTGTCACCGAAGGTCATTACAAGAAGATGAAGAAGGATTCTCAAG___GGGCATTTTCAGGTTTCTGCCACGGAGGAGATGCTCTTCACGAAGGGAGAGTCAG___GATGGACTTTTTTCATTCAGACGGCCGCTCTGGCTTAAAGATATGTACAAACCTCTCAGTGCCACAAGAGTAAATAATCACGCATGGAAGCTGCACAAGAAGTCATCTAATGAGGACGAGATCCTCAACAGGGACCCTGG___GGACAGCGAAGCCCCAACAGAGAAGGGGGAGGAGAGTGAAGCCCTGCCATAG)$ MAAMAPALTDAAAEAHHIRFKLAPPSSTLSPGSAENNGNANILIAANGTKRKAIAAEDPSLDFRNNPTKEDLGKLQPLVASYLCSDVTSVPSKESLKLQGVFSKQTVLKSHPLLSQSYELRAELLGRQPVLEFSLENLRTMNTSGQTALPQAPVNGLAKKLTKSSTHSDHDNSTSLNGGKRALTSSALHGGEMGGSESGDLKGGMTNCTLPHRSLDVEHTTLYSNNSTANKSSVNSMEQPALQGSSRLSPGTDSSSNLGGVKLEGKKSPLSSILFSALDSDTRITALLRRQADIESRARRLQKRLQVVQAKQVERHIQHQLGGFLEKTLSKLPNLESLRPRSQLMLTRKAEAALRKAASETTTSEGLSNFLKSNSISEELERFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTRADPEQRHVPl|nfqgnyisyidgnvwkayswteklilrennltelhkdsfegllslqyldlscnkiqsierhtfeplpflkfinlscnvitelsfgtfqawhgmqflhklilpshmacclcqlknsieavcktvklhcnsacltntihcpeeesvgnpegafmkmlqarknytsteltvepeepsdssginlsgfgsdlkfs* 03BR002 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 10 14 1 52 36 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGAT)GTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 03BR002 ENSG00000230223.7(287724),ENSG00000202433.1(22648) ENSG00000150361.12 ./- -/- chr13:70436816 chr13:69975802 intergenic CDS/splice-site deletion 13 5 0 54 46 high . . |BTB/POZ_domain(100%),BTB_And_C-terminal_Kelch(100%),Kelch_motif(100%) . . . ENSG00000150361.12 . ENST00000377844.9 upstream downstream mismappers(8) CCTGCGTTTATTCTCCTTTCTGCTGCCTTGTGAAGAAGATGTCTTGCTTCCCCTTCACCTTCTACCACAACTATAAGTTTCCTGAGGCCTCCCCAGCCATGCTGAATT|GCTGTCATCAACCGGCCATTCAATGACACCTCAAAGTGATTTGGACTCCAGTAGCTCTGAAGAATTCTATCAAGCTGTTCATCATGCTGAGCAAACCTTCAGAAAGATGGAAAGTTATTTGAAGCAGCAGCAACTTTGTGATGTTATCCTGATTGTTGGGAACCGAAAGATACCTGCACATAG___GCTTGTTCTGAGTTCAGTCTCCGACTATTTTGCGGCCATGTTTACAAGTGATGTTTGTGAAGCCAAGCAAG(AGGAGATCAAAATGGAAGGCATAGACCCCAATGCTCTCTGGGACCTTGTCCAATTTGCATATACAG___GCTGCTTGGAATTAAAAGAGGACACCATTGAGAACCTTCTTGCTGCAGCGTGCCTTCTTCAGCTTCCACAGGTGGTGGAAGTGTGCTGCCACTTCCTCATGAAGCTTTTGCATCCATCTAACTGTTTAGGAATTCGAGCCTTCGCAGATGCTCAAGGATGCATTGAGTTAATGAAGGTGGCCCACAGCTACACAATG___GAAAACATAATGGAAGTTATCAGAAATCAAGAGTTTTTACTCCTTCCAGCTGAGGAGCTCCATAAACTACTGGCCAGTGATGATGTCAATGTTCCTGATGAAGAAACCATCTTCCATGCATTGATGATGTGGGTCAAGTATGACATGCAGAGTAGATGCAATGACCTGAGCATGCTTCTTGCCTTTATAAGACTGCCACTGCTTCCACCACAG___ATATTGGCTGACCTAGAAAATCATGCATTATTTAAGAATGATCTGGAATGTCAAAAGCTGATTCTAGAAGCAATGAAATACCATCTATTGCCAGAAAGAAGAACTTTAATGCAAAGTCCGAGAACTAAACCCAGAAAATCTACAGTCGGAACTTTGTATGCTGTAGGAGGAATGGATAACAACAAAG___GAGCTACAACTATAGAGAAATATGATCTGAGAACAAATCTGTGGATCCAGGCAGGGATGATGAATGGCAGAAGGCTGCAGTTTGGTGTGGCTGTTATTGATGACAAACTCTTTGTAATTGGAGGTCGAGATGGCTTAAAGACATTGAACACTGTTGAATGTTACAATCCCAAAACCAAGACATGGACTGTCTTACCACCAATGTCAACACACAGACATGGTCTAG___GTGTAACAGTACTTGAAGGCCCTATTTATGCTGTGGGAGGCCATGATGGCTGGAGCTATCTGAATACAGTGGAAAGGTGGGATCCACAGAGTCAACAATGGACATTTGTAGCCAGTATGTCAATTGCTCGGAGCACAGTTGGTGTAGCAGCATTGAATGGCAA___GTTGTATTCAGTTGGAGGTCGTGATGGAAGTTCCTGTTTGAGTTCAATGGAATATTATGATCCTCATACAAATAAGTGGAACATGTGTGCTCCCATGTGTAAGAGGAGAGGGGGTGTCGGAGTGGCCACATGTGACGGTTTTCTTTATGCAGTAGGAGGTCATGATGCTCCTGCTTCAAATCACTGTTCCCGGCTACTGGATTATGTAGAAAG___ATATGATCCCAAAACAGACACTTGGACCATGGTGGCTCCTTTGAGTATGCCCAGAGATGCTGTTGGGGTCTGTCTCCTTGGTGACAGATTATATGCTGTTGGTGGCTATGATGGACAGACATACCTCAACACTATGGAATCCTATGACCCACAAACTAATGAGTGGACACAG___ATGGCTTCCTTGAATATTGGGAGAGCAGGTGCCTGTGTGGTAGTCATCAAGCAACCTTGACTTATTGATATTTTACTTGGAAAGATTTTACTTGCTGGAGTGGTTATTTTTATATTGAATGGCAAGAATGAGAACTTCCAGAGATGAAAACTCTTCAAGAACAAGGATCTCTGTAGCGTTACCTACTGATGTTGAAAGAGTTAGTAGATCAAACAGAATAGTAGGAAACAAGAAAACATTAAACTTATACAGGAAAAATGTCTGGCCATATGTTAGTTAGTTCGGGAATGGTTATTGGTAATTTGTTTTGTATTATAGCATACAATAACTAGAGTTACCAAAGGCTTGTTTTTTCTTGAGCAGTTGAAAGGAGAGACCAATATTTGTGACATGGATAGTTTCATGACCACAACTCATTCAATCATTTTATAGTCTATGGCAATATCCAAGAGATTGCCAAGAGTAGAAGACAGAATATTTCATCTGACAGTATCTGATTGGTTTACTGTTTTTCTAATCATATGTGGTCATAACGGGAAGCAGAATTATGCTTTATTCAAACAAACCTGCTTCTGCCTCATTTTCCTAAGCTATGAGAACAATTAGAGAAACAGATTCATGCTTGTATCTTGCATTCAGAAAACAAACTGTCCTACTAATCAAAGCTGCATATCTCATCAGAGATAATGGTTGAATTTTATTGCAACCATATTGGCAATCTGAAACTGGCAAACACAAAGGATTGTTTTCACTAGGCTTACCATTTTGCTTTGCTTTTTTAACACACTGAGCCAAAGATGCAGTGTAATTATTGGGCTTTTGCCTTATGTTGAGTTCAGTGTAAGCATGGAAGCTAGTGATTCTGAATGATATATATATCCATTGCATGTTGAACTCCTTTAGAATTTTGTTCTTAAACAAACTTAGAATTTCAAAAGAAAAACATATGATCCATTAAGTTGGAGTGTTTATGATTATTGCTAGAAAGAAGGCAGACTTCATATTCTCATCGCCCATTTTTCAAACTTGTTACATTGATCTGTACATTATTTTAAGCCACATGTTTGTAATTGTTTAAAACAAAGTGGAAACATTACACAATGTCCTTAATAAATAGGCCCATGTAAATTTTAATTACAATTAATAAATGATCAAAAAATTTGCA)$ . 03BR002 ENSG00000256283.1 ENSG00000134533.6 -/- -/- chr12:15255738 chr12:15217603 exon 5'UTR/splice-site deletion/read-through 7 10 0 27 255 high . . |Ras_family(100%) . . ENSG00000256283.1 ENSG00000134533.6 ENST00000428182.2 ENST00000256953.6 upstream downstream mismappers(1) ^TCCAACCTAGACTCTGAAAAACACAAAAAAGGACGTATGAAGACCGATTGTTTCCTGGTAGCAGTGCCACTTTCAGGATACTAGAG|GATTGTGGACTCTTCCAAGATTCACAATGATATGGTGAATCCAAAGACTGGAACCAAAAAGATTTACTCAGTGCTTTAGTTTTAACAACAGTAAATTGTCTACCAACACCCATCATGGCTAAAAGTGCGGAGGTCAAACTGGCAATATTTGGGAGAGCAGGCGTGGGCAAGTCAG___CTCTTGTAGTGAGATTTCTGACCAAACGGTTCATCTGGGAATATGATCCCACCCTCG___AATCAACCTACCGACACCAAGCAACCATCGATGATGAAGTTGTTTCCATGGAGATACTAG(ACACTGCTGGTCAG___GAAGATACCATTCAGAGGGAGGGGCACATGCGATGGGGGGAAGGCTTTGTGCTGGTCTACGACATTACTGACCGAGGAAGTTTTGAGGAAGTGCTGCCACTTAAGAACATCCTAGATGAGATCAAAAAGCCCAAGAATGTGACTCTCATCTTGGTTGGAAACAAAGCTGACTTGGACCACTCCAGGCAGGTTAGCACAGAAGAAGGAGAGAAGCTGGCCACAGAATTGGCTTGTGCTTTTTACGAGTGCTCTGCCTGCACTGGAGAAGGGAACATCACAGAGATATTCTATGAATTGTGTCGAGAGGTGCGTCGCCGGAGGATGGTGCAGGGCAAGACGAGGCGACGCAGCTCCACCACGCATGTCAAGCAAGCCATTAACAAGATGCTCACCAAAATCAGTAGTTAGGCAGCCCAGCTGAGGTGGACCAACTAATTGGAAACACTCTTCCCCTTCTGTTCCCCTTTCAAAAATAAAACAAAATATTGCATTCTTTGTTTGGATTCTGAGAAATGTCTGGGCTTCCCATTGTTTCTGGCCTCTAATAGGTTGGGAAGTTTTAGCGTGTTTTATGCAATTTCAGTGCTAACAATTTCTTCCTTTCCTGCTTGAATAAGATACACTCTAATGGCATTTGAACATGTAATCACCAGAGATTCTGAAATGACTGGTTTATGTTAAGCTATTTTTAGGCATCTTCACCTTGCTTTAAGTAGGTTGAAGTTTTTGCAAAGGCATTTAAAAATTCAATTTCTTGTCAGATACTACAAATAATTTTCTTAAAAGTCTAAGATAGCAGAAAATACAGTAAAAACACAGGAGAAGAAGCTGAGCTATTGGAACAGGAAATAGAAGGAACTCTAGTTTCTGTTTGAAGTGAGGATTTTCTGAATTATCTAATATCATCTAGGTTTTCTTTAAAATTTTATTTTGTTCTTCAGTTCAAGCATCTTCTCACTAATGTTTTTCACTATAACAGAGAATTCATTTCAATTTGAGTTGGTTCTCTCAATGATCTATTGATCATTACACCCTAACTCTCCTTCCTTGGCTCAAACAATATTTTCCCTATAACAAAGGCAATAGGACACAAAATTCACATCCTGCTGGGCCTTTTTTCATCAAGTCAGGGTGATATAAAAACATTGGAAGTCTTTTCACCAAACCCTGACTTTATTGAATGCTAGTAGAAGATGTAGAATTAGAGACATCTGATTTGTTTATCACCTTAGCAGAAAAACCACAGTCCAAAAGACAAGCAAATTAAGAATGGAGCTTAACCATGCCTCCATTGGGAAGTCTAGACTTTGAGCCAGGTACAGTAAGAAAAATTAGCCTCTGATTCATTAAGTTTGCCACATGACTTATTTTGATATTTTGGATACATTAACTCACTTAGGAGAATTCAGAAAAGAATGGGTGATTAAAGTTCATTACAGCTGAATAAATGTGTCTAAAACAGACTCTTGTATTCTGAAAGTACAGTCTACAACTGATAAAACCTTATGATTCTTTTCTCCCCCATTATGCCCCTATATATATCAAGATTTGGGTACTTTATTTTAGTAGAAAATATATATCTTTTACATATGTATGTATTTATAAATGCATAGATATATGTATAAAAATTTGTAAGCGTTAGCGGCATTAATTCACCAATGCATTTGGACAACTTGATGTAACTGACTTTATTTTATGTGACTATAATAAAAAGCATAATTTTCTCATTCTGTCA)$ . 03BR002 ENSG00000168615.12 ENSG00000253452.6(75725),ENSG00000253504.1(10844) +/+ ./+ chr8:39077411 chr8:36266919 CDS/splice-site intergenic duplication 4 7 0 286 18 high out-of-frame . ADAM_cysteine-rich(100%),Disintegrin(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%)| . . ENSG00000168615.12 . ENST00000487273.7 . downstream upstream duplicates(1) ^(AGACTTGGGGCCCCGGCAGGGTTGGAAAATGATGGAAGAGGCGGAGGTGGAGGCGACCGAGTGCTGAGAGGAACCTGCGGAATCGGCCGAGATGGGGTCTGGCGCGCGCTTTCCCTCGGGGACCCTTCGTGTCCGGTGGTTGCTGTTGCTTGGCCTGGTGGGCCCAGTCCTCGGTGCGGCGCGGCCAG___GCTTTCAACAGACCTCACATCTTTCTTCTTATGAAATTATAACTCCTTGGAGATTAACTAGAGAAAGAAGAGAAGCCCCTAGGCCCTATTCAAAACAA___GTATCTTATGTTATTCAGGCTGAAGGAAAAGAGCATATTATTCACTTGGAAAGGAACAA___AGACCTTTTGCCTGAAGATTTTGTGGTTTATACTTACAACAAGGAAGGGACTTTAATCACTGACCATCCCAATATACAG___AATCATTGTCATTATCGGGGCTATGTGGAGGGAGTTCATAATTCATCCATTGCTCTTAGCGACTGTTTTGGACTCAG___AGGATTGCTGCATTTAGAGAATGCGAGTTATGGGATTGAACCCCTGCAGAACAGCTCTCATTTTGAGCACATCATTTATCGAATGGATGATGTCTACAAAGAGCCTCTGAAATGTGGAGTTTCCAACAAGGATATAGAGAAAGAAACTGCAAAGGATGAAGAGGAAGAGCCTCCCAGCATGACTCAGCTACTTCGA___AGAAGAAGAGCTGTCTTGCCACAGACCCGGTATGTGGAGCTGTTCATTGTCGTAGACAAGGAAAGG___TATGACATGATGGGAAGAAATCAGACTGCTGTGAGAGAAGAGATGATTCTCCTGGCAAACTACTTGGATAGT___ATGTATATTATGTTAAATATTCGAATTGTGCTAGTTGGACTGGAGATTTGGACCAATGGAAACCTGATCAACATAGTTGGGGGTGCTGGTGATGTGCTGGGGAACTTCGTGCAGTGGCGGGAAAAGTTTCTTATCACACGTCGGAGACATGACAGTGCACAGCTAGTTCT___AAAGAAAGGTTTTGGTGGAACTGCAGGAATGGCATTTGTGGGAACAGTGTGTTCAAGGAGCCACGCAGGCGGGATTAATGTG___TTTGGACAAATCACTGTGGAGACATTTGCTTCCATTGTTGCTCATGAATTGGGTCATAATCTTGGAATGAATCACGATGATGGGAGAGATTGTTCCTGTGGAGCAAAGAGCTGCATCATGAATTCAGGAGCATC___GGGTTCCAGAAACTTTAGCAGTTGCAGTGCAGAGGACTTTGAGAAGTTAACTTTAAATAAAGGAGGAAACTGCCTTCTTAATATTCCAAAGCCTGATGAAGCCTATAGTGCTCCCTCCTGTGGTAATAAGTTGGTGGACGCTGGGGAAGAGTGTGACTGTGGTACTCCAAAG___GAATGTGAATTGGACCCTTGCTGCGAAGGAAGTACCTGTAAGCTTAAATCATTTGCTGAGTGTGCATATGGTGACTGTTGTAAAGACTGTCGG___TTCCTTCCAGGAGGTACTTTATGCCGAGGAAAAACCAGTGAGTGTGATGTTCCAGAGTACTGCAATGGTTCTTCTCAGTTCTGTCAGCCAGATGTTTTTATTCAGAATGGATATCCTTGCCAGAATAACAAAGCCTATTGCTACAACGGCATGTGCCAGTATTATGATGCTCAATGTCAAGTCATCTTTGGCTCAA___AAGCCAAGGCTGCCCCCAAAGATTGTTTCATTGAAGTGAATTCTAAAGGTGACAGATTTGGCAATTGTGGTTTCT)CTGGCAATGAATACAAGAAGTGTGCCACTGG___GAATGCTTTGTGTGGAAAGCTTCAGTGTGAGAATGTACAAGAGATACCTGTATTTGGAATTGTGCCTGCTATTATTCAAACGCCTAGTCGAGGCACCAAATGTTGGGGTGTGGATTTCCAGCTAGGATCAGATGTTCCAGATCCTGGGATGGTTAACGAAGGCACAAAATGTGGTGCTGGAAAG|GCAGCATTGTGTGGGTTACTGCAATATTAAAATGGCAGAGTTCCCTGACCTCCCTTGCAGGACAAGTGACAGAG___CATTTACACCATTAATGTAGGTCCATGAGGATTATGGACCCAGAGAAAGGAATA...GGTTCCAAAGGAAGAGGAAGAAAAGAGCCTCTAGTGGTGATGTATCCGTCCAATGGGTgCACCTTGCCCACTGCTTATACAGAGCTTTATTTATCAAGATGGGGAAACTGCAATAGAGAAAGAGTAATTCATGCAGAGCTGGCTGTGTGG MGSGARFPSGTLRVRWLLLLGLVGPVLGAARPGFQQTSHLSSYEIITPWRLTRERREAPRPYSKQVSYVIQAEGKEHIIHLERNKDLLPEDFVVYTYNKEGTLITDHPNIQNHCHYRGYVEGVHNSSIALSDCFGLRGLLHLENASYGIEPLQNSSHFEHIIYRMDDVYKEPLKCGVSNKDIEKETAKDEEEEPPSMTQLLRRRRAVLPQTRYVELFIVVDKERYDMMGRNQTAVREEMILLANYLDSMYIMLNIRIVLVGLEIWTNGNLINIVGGAGDVLGNFVQWREKFLITRRRHDSAQLVLKKGFGGTAGMAFVGTVCSRSHAGGINVFGQITVETFASIVAHELGHNLGMNHDDGRDCSCGAKSCIMNSGASGSRNFSSCSAEDFEKLTLNKGGNCLLNIPKPDEAYSAPSCGNKLVDAGEECDCGTPKECELDPCCEGSTCKLKSFAECAYGDCCKDCRFLPGGTLCRGKTSECDVPEYCNGSSQFCQPDVFIQNGYPCQNNKAYCYNGMCQYYDAQCQVIFGSKAKAAPKDCFIEVNSKGDRFGNCGFSGNEYKKCATGNALCGKLQCENVQEIPVFGIVPAIIQTPSRGTKCWGVDFQLGSDVPDPGMVNEGTKCGAGK|aalcgllqy* 03BR002 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 4 7 0 88 30 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGA)AGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 03BR002 ENSG00000168615.12 ENSG00000253452.6(48092),ENSG00000253504.1(38477) +/+ ./+ chr8:39077411 chr8:36239286 CDS/splice-site intergenic duplication 3 7 0 286 12 high out-of-frame . ADAM_cysteine-rich(100%),Disintegrin(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%)| . . ENSG00000168615.12 . ENST00000487273.7 . downstream upstream mismatches(1) ^(AGACTTGGGGCCCCGGCAGGGTTGGAAAATGATGGAAGAGGCGGAGGTGGAGGCGACCGAGTGCTGAGAGGAACCTGCGGAATCGGCCGAGATGGGGTCTGGCGCGCGCTTTCCCTCGGGGACCCTTCGTGTCCGGTGGTTGCTGTTGCTTGGCCTGGTGGGCCCAGTCCTCGGTGCGGCGCGGCCAG___GCTTTCAACAGACCTCACATCTTTCTTCTTATGAAATTATAACTCCTTGGAGATTAACTAGAGAAAGAAGAGAAGCCCCTAGGCCCTATTCAAAACAA___GTATCTTATGTTATTCAGGCTGAAGGAAAAGAGCATATTATTCACTTGGAAAGGAACAA___AGACCTTTTGCCTGAAGATTTTGTGGTTTATACTTACAACAAGGAAGGGACTTTAATCACTGACCATCCCAATATACAG___AATCATTGTCATTATCGGGGCTATGTGGAGGGAGTTCATAATTCATCCATTGCTCTTAGCGACTGTTTTGGACTCAG___AGGATTGCTGCATTTAGAGAATGCGAGTTATGGGATTGAACCCCTGCAGAACAGCTCTCATTTTGAGCACATCATTTATCGAATGGATGATGTCTACAAAGAGCCTCTGAAATGTGGAGTTTCCAACAAGGATATAGAGAAAGAAACTGCAAAGGATGAAGAGGAAGAGCCTCCCAGCATGACTCAGCTACTTCGA___AGAAGAAGAGCTGTCTTGCCACAGACCCGGTATGTGGAGCTGTTCATTGTCGTAGACAAGGAAAGG___TATGACATGATGGGAAGAAATCAGACTGCTGTGAGAGAAGAGATGATTCTCCTGGCAAACTACTTGGATAGT___ATGTATATTATGTTAAATATTCGAATTGTGCTAGTTGGACTGGAGATTTGGACCAATGGAAACCTGATCAACATAGTTGGGGGTGCTGGTGATGTGCTGGGGAACTTCGTGCAGTGGCGGGAAAAGTTTCTTATCACACGTCGGAGACATGACAGTGCACAGCTAGTTCT___AAAGAAAGGTTTTGGTGGAACTGCAGGAATGGCATTTGTGGGAACAGTGTGTTCAAGGAGCCACGCAGGCGGGATTAATGTG___TTTGGACAAATCACTGTGGAGACATTTGCTTCCATTGTTGCTCATGAATTGGGTCATAATCTTGGAATGAATCACGATGATGGGAGAGATTGTTCCTGTGGAGCAAAGAGCTGCATCATGAATTCAGGAGCATC___GGGTTCCAGAAACTTTAGCAGTTGCAGTGCAGAGGACTTTGAGAAGTTAACTTTAAATAAAGGAGGAAACTGCCTTCTTAATATTCCAAAGCCTGATGAAGCCTATAGTGCTCCCTCCTGTGGTAATAAGTTGGTGGACGCTGGGGAAGAGTGTGACTGTGGTACTCCAAAG___GAATGTGAATTGGACCCTTGCTGCGAAGGAAGTACCTGTAAGCTTAAATCATTTGCTGAGTGTGCATATGGTGACTGTTGTAAAGACTGTCGG___TTCCTTCCAGGAGGTACTTTATGCCGAGGAAAAACCAGTGAGTGTGATGTTCCAGAGTACTGCAATGGTTCTTCTCAGTTCTGTCAGCCAGATGTTTTTATTCAGAATGGATATCCTTGCCAGAATAACAAAGCCTATTGCTACAACGGCATGTGCCAGTATTATGATGCTCAATGTCAAGTCATCTTTGGCTCAA___AAGCCAAGGCTGCCCCCAAAGATTGTTTCATTGAAGTGAATT)CTAAAGGTGACAGATTTGGCAATTGTGGTTTCTCTGGCAATGAATACAAGAAGTGTGCCACTGG___GAATGCTTTGTGTGGAAAGCTTCAGTGTGAGAATGTACAAGAGATACCTGTATTTGGAATTGTGCCTGCTATTATTCAAACGCCTAGTCGAGGCACCAAATGTTGGGGTGTGGATTTCCAGCTAGGATCAGATGTTCCAGATCCTGGGATGGTTAACGAAGGCACAAAATGTGGTGCTGGAAAG|GGATTTCAGCCATGAAACTTTCAGTGGCAGAGGAACAGATATTACTTCTTCTCTCCTATATTCCCAAAGAATCCAGCCCATTGTAGAGATTGAATGGCATTTGAGAATAAAGAGTAGAGTTCAGTAGACAAATCAGAGATTAAGGATAAAGAAAGTACAATCTATCTGCAATCCTGTAAGTATCTGGATGTGGAAAATAAAAT MGSGARFPSGTLRVRWLLLLGLVGPVLGAARPGFQQTSHLSSYEIITPWRLTRERREAPRPYSKQVSYVIQAEGKEHIIHLERNKDLLPEDFVVYTYNKEGTLITDHPNIQNHCHYRGYVEGVHNSSIALSDCFGLRGLLHLENASYGIEPLQNSSHFEHIIYRMDDVYKEPLKCGVSNKDIEKETAKDEEEEPPSMTQLLRRRRAVLPQTRYVELFIVVDKERYDMMGRNQTAVREEMILLANYLDSMYIMLNIRIVLVGLEIWTNGNLINIVGGAGDVLGNFVQWREKFLITRRRHDSAQLVLKKGFGGTAGMAFVGTVCSRSHAGGINVFGQITVETFASIVAHELGHNLGMNHDDGRDCSCGAKSCIMNSGASGSRNFSSCSAEDFEKLTLNKGGNCLLNIPKPDEAYSAPSCGNKLVDAGEECDCGTPKECELDPCCEGSTCKLKSFAECAYGDCCKDCRFLPGGTLCRGKTSECDVPEYCNGSSQFCQPDVFIQNGYPCQNNKAYCYNGMCQYYDAQCQVIFGSKAKAAPKDCFIEVNSKGDRFGNCGFSGNEYKKCATGNALCGKLQCENVQEIPVFGIVPAIIQTPSRGTKCWGVDFQLGSDVPDPGMVNEGTKCGAGK|gfqp* 03BR002 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 6 17 0 54 425 medium . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000369458.8 upstream downstream low_entropy(2) CTCCCGAGACCTTAGGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG___GGAGACACTCCATCACAGTCACTACTGTCGCCTCAGCTGGGAACATTGGGGAGGATGGAATCCTGAGCTGCACTTTTGAACCTGACATCAAACTTTCTGATATCGTGATACAATGGCTGAAGGAAGGTGTTTTAGGCTTGGTCCATGAGTTCAAAG(AAGGCAAAGATGAGCTGTCGGAGCAGGATGAAATGTTCAGAGGCCGGACAGCAGTGTTTGCTGATCAAGTGATAGTTGGCAATGCCTCTTTGCGGCTGAAAAACGTGCAACTCACAGATGCTGGCACCTACAAATGTTATATCATCACTTCTAAAGGCAAGGGGAATGCTAACCTTGAGTATAAAACTGGAG___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACCA)$ . 03BR002 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 2 1 0 914 10 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGG)CCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG(___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 03BR002 ENSG00000251503.8 ENSG00000171862.11 +/+ +/+ chr1:10431401 chr10:87925513 CDS/splice-site CDS/splice-site translocation 0 2 0 20 50 medium out-of-frame . |C2_domain_of_PTEN_tumour-suppressor_protein(100%),Dual_specificity_phosphatase__catalytic_domain(100%) . . ENSG00000251503.8 ENSG00000171862.11 ENST00000602296.6 ENST00000371953.8 downstream upstream . ^(GCGGGCGCCGGGGTCCGGCGGCGAGAGGCCACCTTCTGGCCTTGCGATGAATCCTCGGTTTCCCCTTCTCAGATGGGGTTTTCGTGAGGGTACAACGTCGGCATTAGACATTCCAGGTGACGCCCGTACGCGGTGGGCGGTTCGGGCCGGAGCTCTGGAACGCTGGCCCTGGAGGCGTCGACCCCTCGTTACTGATGCAGGGACGCGGTGCGGACCAGTCAGGCCCAGAGCTCGTCCTTAGATGTGGGTTCGAATCTCTGCCCCGCCAACTTGTGATCGTATCGACTCGGCCCAGACGCAATTTTCTTCTCTGCAAAATCGTCATAAGAATAATCACTTGTCAGGGTAGCTGCGGGCATCCCATTCGTTCCTTTCATCAGCGCCGGGCATATGGGGCGTCAGAGGCTGAGAACGTTGCCGTGAAGAGGCTTAAAAGCAAGACCCGGAGTGGCGACCTTAAAGAGGACGGACTGAAGAAACGCGGGAATGAGCTCCAGACGCGGGAGTTTCCTCTCTACAAAGTTACACTGCAGCAGCTGTCTACCCTGCCCCTTGTCTTTTG)AGAAGTTCAAACCTTCAGAAAAGTTGCAAGAACACG|GTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCT___TTGTGCTGAAAGACATTATGcCACCGCCAAATTTAATTGCAGAG___TTGCACAATATCCTTTTGAAGACCATAACCCACCACAGCTAGAACTTATCAAACCCTTTTGTGAAGATCTTGACCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGCTGG(AAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTACATCGGGGCAAATTTTTAAAGGCACAAGAGGCCCTAGATTTCTATGGGGAAGTAAGGACCAGAGACAAAAAG___GGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGACCAGTGGCACTGTTGTTTCACAAGATGATGTTTGAAACTATTCCAATGTTCAGTGGCGGAACTTGCA___ATCCTCAGTTTGTGGTCTGCCAGCTAAAGGTGAAGATATATTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCATGTACTTTGAGTTCCCTCAGCCGTTACCTGTGTGTGGTGATATCAAAGTAGAGTTCTTCCACAAACAGAACAAGATGCTAAAAAAG___GACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATGACAAGGAATATCTAGTACTTACTTTAACAAAAAATGATCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTTCTCCAAATTTTAAG___GTGAAGCTGTACTTCACAAAAACAGTAGAGGAGCCGTCAAATCCAGAGGCTAGCAGTTCAACTTCTGTAACACCAGATGTTAGTGACAATGAACCTGATCATTATAGATATTCTGACACCACTGACTCTGATCCAGAGAATGAACCTTTTGATGAAGATCAGCATACACAAATTACAAAAGTCTGAATTTTTTTTTATCAAGAGGGATAAAACACCATGAAAATAAACTTGAATAAACTGAAAATGGACCTTTTTTTTTTTAATGGCAATAGGACATTGTGTCAGATTACCAGTTATAGGAACAATTCTCTTTTCCTGACCAATCTTGTTTTACCCTATACATCCACAGGGTTTTGACACTTGTTGTCCAGTTGAAAAAAGGTTGTGTAGCTGTGTCATGTATATACCTTTTTGTGTCAAAAGGACATTTAAAATTCAATTAGGATTAATAAAGATGGCACTTTCCCGTTTTATTCCAGTTTTATAAAAAGTGGAGACAGACTGATGTGTATACGTAGGAATTTTTTCCTTTTGTGTTCTGTCACCAACTGAAGTGGCTAAAGAGCTTTGTGATATACTGGTTCACATCCTACCCCTTTGCACTTGTGGCAACAGATAAGTTTGCAGTTGGCTAAGAGAGGTTTCCGAAGGGTTTTGCTACATTCTAATGCATGTATTCGGGTTAGGGGAATGGAGGGAATGCTCAGAAAGGAAATAATTTTATGCTGGACTCTGGACCATATACCATCTCCAGCTATTTACACACACCTTTCTTTAGCATGCTACAGTTATTAATCTGGACATTCGAGGAATTGGCCGCTGTCACTGCTTGTTGTTTGCGCATTTTTTTTTAAAGCATATTGGTGCTAGAAAAGGCAGCTAAAGGAAGTGAATCTGTATTGGGGTACAGGAATGAACCTTCTGCAACATCTTAAGATCCACAAATGAAGGGATATAAAAATAATGTCATAGGTAAGAAACACAGCAACAATGACTTAACCATATAAATGTGGAGGCTATCAACAAAGAATGGGCTTGAAACATTATAAAAATTGACAATGATTTATTAAATATGTTTTCTCAATTGTAACGACTTCTCCATCTCCTGTGTAATCAAGGCCAGTGCTAAAATTCAGATGCTGTTAGTACCTACATCAGTCAACAACTTACACTTATTTTACTAGTTTTCAATCATAATACCTGCTGTGGATGCTTCATGTGCTGCCTGCAAGCTTCTTTTTTCTCATTAAATATAAAATATTTTGTAATGCTGCACAGAAATTTTCAATTTGAGATTCTACAGTAAGCGTTTTTTTTCTTTGAAGATTTATGATGCACTTATTCAATAGCTGTCAGCCGTTCCACCCTTTTGACCTTACACATTCTATTACAATGAATTTTGCAGTTTTGCACATTTTTTAAATGTCATTAACTGTTAGGGAATTTTACTTGAATACTGAATACATATAATGTTTATATTAAAAAGGACATTTGTGTTAAAAAGGAAATTAGAGTTGCAGTAAACTTTCAATGCTGCACACAAAAAAAAGACATTTGATTTTTCAGTAGAAATTGTCCTACATGTGCTTTATTGATTTGCTATTGAAAGAATAGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAATGTGCAGTGTTGAATCATTTCTTCATAGTGCTCCCCCGAGTTGGGACTAGGGCTTCAATTTCACTTCTTAAAAAAAATCATCATATATTTGATATGCCCAGACTGCATACGATTTTAAGCGGAGTACAACTACTATTGTAAAGCTAATGTGAAGATATTATTAAAAAGGTTTTTTTTTCCAGAAATTTGGTGTCTTCAAATTATACCTTCACCTTGACATTTGAATATCCAGCCATTTTGTTTCTTAATGGTATAAAATTCCATTTTCAATAACTTATTGGTGCTGAAATTGTTCACTAGCTGTGGTCTGACCTAGTTAATTTACAAATACAGATTGAATAGGACCTACTAGAGCAGCATTTATAGAGTTTGATGGCAAATAGATTAGGCAGAACTTCATCTAAAATATTCTTAGTAAATAATGTTGACACGTTTTCCATACCTTGTCAGTTTCATTCAACAATTTTTAAATTTTTAACAAAGCTCTTAGGATTTACACATTTATATTTAAACATTGATATATAGAGTATTGATTGATTGCTCATAAGTTAAATTGGTAAAGTTAGAGACAACTATTCTAACACCTCACCATTGAAATTTATATGCCACCTTGTCTTTCATAAAAGCTGAAAATTGTTACCTAAAATGAAAATCAACTTCATGTTTTGAAGATAGTTATAAATATTGTTCTTTGTTACAATTTCGGGCACCGCATATTAAAACGTAACTTTATTGTTCCAATATGTAACATGGAGGGCCAGGTCATAAATAATGACATTATAATGGGCTTTTGCACTGTTATTATTTTTCCTTTGGAATGTGAAGGTCTGAATGAGGGTTTTGATTTTGAATGTTTCAATGTTTTTGAGAAGCCTTGCTTACATTTTATGGTGTAGTCATTGGAAATGGAAAAATGGCATTATATATATTATATATATAAATATATATTATACATACTCTCCTTACTTTATTTCAGTTACCATCCCCATAGAATTTGACAAGAATTGCTATGACTGAAAGGTTTTCGAGTCCTAATTAAAACTTTATTTATGGCAGTATTCATAATTAGCCTGAAATGCATTCTGTAGGTAATCTCTGAGTTTCTGGAATATTTTCTTAGACTTTTTGGATGTGCAGCAGCTTACATGTCTGAAGTTACTTGAAGGCATCACTTTTAAGAAAGCTTACAGTTGGGCCCTGTACCATCCCAAGTCCTTTGTAGCTCCTCTTGAACATGTTTGCCATACTTTTAAAAGGGTAGTTGAATAAATAGCATCACCATTCTTTGCTGTGGCACAGGTTATAAACTTAAGTGGAGTTTACCGGCAGCATCAAATGTTTCAGCTTTAAAAAATAAAAGTAGGGTACAAGTTTAATGTTTAGTTCTAGAAATTTTGTGCAATATGTTCATAACGATGGCTGTGGTTGCCACAAAGTGCCTCGTTTACCTTTAAATACTGTTAATGTGTCATGCATGCAGATGGAAGGGGTGGAACTGTGCACTAAAGTGGGGGCTTTAACTGTAGTATTTGGCAGAGTTGCCTTCTACCTGCCAGTTCAAAAGTTCAACCTGTTTTCATATAGAATATATATACTAAAAAATTTCAGTCTGTTAAACAGCCTTACTCTGATTCAGCCTCTTCAGATACTCTTGTGCTGTGCAGCAGTGGCTCTGTGTGTAAATGCTATGCACTGAGGATACACAAAAATACCAATATGATGTGTACAGGATAATGCCTCATCCCAATCAGATGTCCATTTGTTATTGTGTTTGTTAACAACCCTTTATCTCTTAGTGTTATAAACTCCACTTAAAACTGATTAAAGTCTCATTCTTGTCATTGTGTGGGTGTTTTATTAAATGAGAGTTTATAATTCAAATTGCTTAAGTCCATTGAAGTTTTAATTAATGGGCAGCCAAATGTGAATACAAAGTTTTCAGTTTTTTTTTTTCCTGCTGTCCTTCAAAGCCTACTGTTTAAAAAAAAAAAAAAAAAAAAACATGGCCTGAGAGTAGAGTATCTGTCTACTCATGTTTAATTAAGGAAAAACACTTATTTTTAGGGCTTTAGTCATCACTTCATAAATTGTATAAGCACATTAAATAGCGTTCTAGTCCTGAAAAAGTCCAAGATTCTTAGAAAATTGTGCATATTTTTATTATGACAGATGTTTGAAGATAATTCCCCAGAATGGATTTGATACTTTAGATTTCAATTTTGTGGCTTTTGTCTATTATTCTGTACTCTGCCATCAGCATATGGAAAGCTTCATTTACTCATCATGACTTGTGCCATATAAAAATTGATATTTCGGAATAGTCTAAAGGACTTTTTGTACTTGAATTTAATCATGTTGTTTCTAATATTCTTAAAAGCTTGAAGACTAAAGCATATCCTTTCAACAAAGCATAGTAAGGTAATAAGAAAGTGTAGTTTGTACAAGTGTTAAAAAAATAAAGTAGACAATGTTACAGTGGGACTTATTATTTCAAGTTTACATTTTCTCCATGTAATTTTTTAAAAAGTAAATGAAAAAATGTGCAATAATGTAAAATATGAAGTGTATGTGTACACACATTTTATTTTTCGGTATCTTGGGTATACGTATGGTTGAAAACTATACTGGAGTCTAAAAGTATTCTAATTTATAAGAAGACATTTTGGTGATGTTTGAAAAATAGAAATGTGCTAGTTTTGTTTTTATATCATGTCCTTTGTACGTTGTAATATGAGCTGGCTTGGTTCAGTAAATGCCATCACCATTTCCATTGAGAATTTAAAACTCACCAGTGTTTAATATGCAGGCTTCCAAAGGCTTATGAAAAAAATCAAGACCCTTAAATCTAGTTAATTTGCTGCTAACATGAAACTCTTTGGTTCTTTTATTTTTGCCAGATAATTAGACACACATCTAAAGCTTAGTCTTAAATGGCTTAAGTGTAGCTATTGATTAGTGCTGTTGCTAGTTCAGAAAGAAATGTTTGTGAATGGAAACAAGAATATTCAGTCCAAACTGTTGTAAGGACAGTACCTGAAAACCAGGAAACAGGATAATGGAAAAAGTCTTTTAAAGATGAAATGTTGGAGCCAACTTTCTTATAGAATTAATTGTATGTGGCTATAGAAAGCCTAATGATTGTTGCTTATTTTTGAGAGCATATTATTCTTTTATGACCATAATCTTGCTGTTTTTCCATCTTCCAAAAGATCTTCCTTCTAATATGTATATCAGAATGTGGGTAGCCAGTCAGACAAATTCATATTGGTTGGTAGCTTTAAAAAGTTTGTAATGTGAAGACAGGAAAGGACAAAATAGTTTGCTTTGGTGGTAGTACTCTGGTTGTTAAGCTAGGTATTTTGAGACTACTTCCCCATCACAACAACAATAAAATAATCACTCATAATCCTATCACCTGGAGACATAGCCATCGTTAATATGTTAGTGACTATACAATCATGTTTTCTTCTGTATATCCATGTATATTCTTTAAAAATGAAATTTATACTGTACCTGATCTCAAAGCTTTTTAGCTTAGTATATCTGTCATGAATTTGTAGGATGTTCCATTGCATCAGAAAACGGACAGTGATTTGATTACTTTCTAATGCCACAGATGCAGATTACATGTAGTTATTGAGAATCCTTTCGAATTCAGTGGCTTAATCATGAATGTCTAAATATTGTTGACATTAGGATGATACATGTAAATTAAAGTTACATTTGTTTAGCATAGACAAGCTTAACATTGTAGATGTTTCTCTTCAAAAATCATCTTAAACATTTGCATTTGGAATTGTGTTAAATAGAATGTGTGAAACACTGTATTAGTAAACTTCATCACCTTTCTACTTCCTTATAGTTTGAACTTTTCAGTTTTTGTAGTTCCCAAACAGTTGCTCAATTTAGAGCAAATTAATTTAACACCTGCCAAAAAAAGGCTGCTGTTGGCTTATCAGTTGTCTTTAAATTCAAATGCTCATGTGACTTTTATCACATCAAAAAATATTTCATTAATGATTCACCTTTAGCTCTGAAAATTACCGCGTTTAGTAATTATAGTGGGCTTATAAAAACATGCAACTCTTTTTGATAGTTATTTGAGAATTTTGGTGAAAAATATTTAGCTGAGGGCAGTATAGAACTTATAAACCAATATATTGATATTTTTAAAACATTTTTACATATAAGTAAACTGCCATCTTTGAGCATAACTACATTTAAAAATAAAGCTGCATATTTTTAAATCAAGTGTTTAACAAGAATTTATATTTTTTATTTTTTAAAATTAAAAATAATTTATATTTCCTCTGTTGCATGAGGATTCTCATCTGTGCTTATAATGGTTAGAGATTTTATTTGTGTGGAATGAAGTGAGGCTTGTAGTCATGGTTCTAGTGTTTCAGTTTGCCAAGTCTGTTTACTGCAGTGAAATTCATCAAATGTTTCAGTGTGGTTTTCTGTAGCCTATCATTTACTGGCTATTTTTTTATGTACACCTTTAGGATTTTCTGCCTACTCTATCCAGTTGTCCAAATGATATCCTACATTTTACAAATGCCCTTTCAGTTTCTATTTTCTTTTTCCATTAAATTGCCCTCATGTCCTAATGTGCAGTTTGTAAGTGTGTGTGTGTGTGTCTGTGTGTGTGTGAATTTGATTTTCAAGAGTGCTAGACTTCCAATTTGAGAGATTAAATAATTTAATTCAGGCAAACATTTTTCATTGGAATTTCACAGTTCATTGTAATGAAAATGTTAATCCTGGATGACCTTTGACATACAGTAATGAATCTTGGATATTAATGAATTTGTTAGTAGCATCTTGATGTGTGTTTTAATGAGTTATTTTCAAAGTTGTGCATTAAACCAAAGTTGGCATACTGGAAGTGTTTATATCAAGTTCCATTTGGCTACTGATGGACAAAAAATAGAAATGCCTTCCTATGGAGAGTATTTTTCCTTTAAAAAATTAAAAAGGTTAATTATTTTGACTA)$ MSSRRGSFLSTKLHCSSCLPCPLSFEKFKPSEKLQEH|gfwiqsiktitrytifvlkdimpppnliaelhnillktithhs* 03BR002 ENSG00000175279.22 ENSG00000171862.11 +/+ +/+ chr1:10431401 chr10:87925513 CDS/splice-site CDS/splice-site translocation 0 2 0 20 50 medium out-of-frame . |C2_domain_of_PTEN_tumour-suppressor_protein(100%),Dual_specificity_phosphatase__catalytic_domain(100%) . . ENSG00000175279.22 ENSG00000171862.11 ENST00000462462.1 ENST00000371953.8 downstream upstream . ^(CGTCATAAGAATAATCACTTGTCAGGGTAGCTGCGGGCATCCCATTCGTTCCTTTCATCAGCGCCGGGCATATGGGGCGTCAGAGGCTGAGAACGTTGCCGTGAAGAGGCTTAAAAGCAAGACCCGGAGTGGCGACCTTAAAGAGGACGGACTGAAGAAACGCGGGAATGAGCTCCAGACGCGGGAGTTTCCTCTCTACAAAGTTACACTGCAGCAGCTGTCTACCCTGCCCCTTGTCTTTTG)AGAAGTTCAAACCTTCAGAAAAGTTGCAAGAACACG|GTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCT___TTGTGCTGAAAGACATTATGcCACCGCCAAATTTAATTGCAGAG___TTGCACAATATCCTTTTGAAGACCATAACCCACCACAGCTAGAACTTATCAAACCCTTTTGTGAAGATCTTGACCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGCTGG(AAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTACATCGGGGCAAATTTTTAAAGGCACAAGAGGCCCTAGATTTCTATGGGGAAGTAAGGACCAGAGACAAAAAG___GGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGACCAGTGGCACTGTTGTTTCACAAGATGATGTTTGAAACTATTCCAATGTTCAGTGGCGGAACTTGCA___ATCCTCAGTTTGTGGTCTGCCAGCTAAAGGTGAAGATATATTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCATGTACTTTGAGTTCCCTCAGCCGTTACCTGTGTGTGGTGATATCAAAGTAGAGTTCTTCCACAAACAGAACAAGATGCTAAAAAAG___GACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATGACAAGGAATATCTAGTACTTACTTTAACAAAAAATGATCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTTCTCCAAATTTTAAG___GTGAAGCTGTACTTCACAAAAACAGTAGAGGAGCCGTCAAATCCAGAGGCTAGCAGTTCAACTTCTGTAACACCAGATGTTAGTGACAATGAACCTGATCATTATAGATATTCTGACACCACTGACTCTGATCCAGAGAATGAACCTTTTGATGAAGATCAGCATACACAAATTACAAAAGTCTGAATTTTTTTTTATCAAGAGGGATAAAACACCATGAAAATAAACTTGAATAAACTGAAAATGGACCTTTTTTTTTTTAATGGCAATAGGACATTGTGTCAGATTACCAGTTATAGGAACAATTCTCTTTTCCTGACCAATCTTGTTTTACCCTATACATCCACAGGGTTTTGACACTTGTTGTCCAGTTGAAAAAAGGTTGTGTAGCTGTGTCATGTATATACCTTTTTGTGTCAAAAGGACATTTAAAATTCAATTAGGATTAATAAAGATGGCACTTTCCCGTTTTATTCCAGTTTTATAAAAAGTGGAGACAGACTGATGTGTATACGTAGGAATTTTTTCCTTTTGTGTTCTGTCACCAACTGAAGTGGCTAAAGAGCTTTGTGATATACTGGTTCACATCCTACCCCTTTGCACTTGTGGCAACAGATAAGTTTGCAGTTGGCTAAGAGAGGTTTCCGAAGGGTTTTGCTACATTCTAATGCATGTATTCGGGTTAGGGGAATGGAGGGAATGCTCAGAAAGGAAATAATTTTATGCTGGACTCTGGACCATATACCATCTCCAGCTATTTACACACACCTTTCTTTAGCATGCTACAGTTATTAATCTGGACATTCGAGGAATTGGCCGCTGTCACTGCTTGTTGTTTGCGCATTTTTTTTTAAAGCATATTGGTGCTAGAAAAGGCAGCTAAAGGAAGTGAATCTGTATTGGGGTACAGGAATGAACCTTCTGCAACATCTTAAGATCCACAAATGAAGGGATATAAAAATAATGTCATAGGTAAGAAACACAGCAACAATGACTTAACCATATAAATGTGGAGGCTATCAACAAAGAATGGGCTTGAAACATTATAAAAATTGACAATGATTTATTAAATATGTTTTCTCAATTGTAACGACTTCTCCATCTCCTGTGTAATCAAGGCCAGTGCTAAAATTCAGATGCTGTTAGTACCTACATCAGTCAACAACTTACACTTATTTTACTAGTTTTCAATCATAATACCTGCTGTGGATGCTTCATGTGCTGCCTGCAAGCTTCTTTTTTCTCATTAAATATAAAATATTTTGTAATGCTGCACAGAAATTTTCAATTTGAGATTCTACAGTAAGCGTTTTTTTTCTTTGAAGATTTATGATGCACTTATTCAATAGCTGTCAGCCGTTCCACCCTTTTGACCTTACACATTCTATTACAATGAATTTTGCAGTTTTGCACATTTTTTAAATGTCATTAACTGTTAGGGAATTTTACTTGAATACTGAATACATATAATGTTTATATTAAAAAGGACATTTGTGTTAAAAAGGAAATTAGAGTTGCAGTAAACTTTCAATGCTGCACACAAAAAAAAGACATTTGATTTTTCAGTAGAAATTGTCCTACATGTGCTTTATTGATTTGCTATTGAAAGAATAGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAATGTGCAGTGTTGAATCATTTCTTCATAGTGCTCCCCCGAGTTGGGACTAGGGCTTCAATTTCACTTCTTAAAAAAAATCATCATATATTTGATATGCCCAGACTGCATACGATTTTAAGCGGAGTACAACTACTATTGTAAAGCTAATGTGAAGATATTATTAAAAAGGTTTTTTTTTCCAGAAATTTGGTGTCTTCAAATTATACCTTCACCTTGACATTTGAATATCCAGCCATTTTGTTTCTTAATGGTATAAAATTCCATTTTCAATAACTTATTGGTGCTGAAATTGTTCACTAGCTGTGGTCTGACCTAGTTAATTTACAAATACAGATTGAATAGGACCTACTAGAGCAGCATTTATAGAGTTTGATGGCAAATAGATTAGGCAGAACTTCATCTAAAATATTCTTAGTAAATAATGTTGACACGTTTTCCATACCTTGTCAGTTTCATTCAACAATTTTTAAATTTTTAACAAAGCTCTTAGGATTTACACATTTATATTTAAACATTGATATATAGAGTATTGATTGATTGCTCATAAGTTAAATTGGTAAAGTTAGAGACAACTATTCTAACACCTCACCATTGAAATTTATATGCCACCTTGTCTTTCATAAAAGCTGAAAATTGTTACCTAAAATGAAAATCAACTTCATGTTTTGAAGATAGTTATAAATATTGTTCTTTGTTACAATTTCGGGCACCGCATATTAAAACGTAACTTTATTGTTCCAATATGTAACATGGAGGGCCAGGTCATAAATAATGACATTATAATGGGCTTTTGCACTGTTATTATTTTTCCTTTGGAATGTGAAGGTCTGAATGAGGGTTTTGATTTTGAATGTTTCAATGTTTTTGAGAAGCCTTGCTTACATTTTATGGTGTAGTCATTGGAAATGGAAAAATGGCATTATATATATTATATATATAAATATATATTATACATACTCTCCTTACTTTATTTCAGTTACCATCCCCATAGAATTTGACAAGAATTGCTATGACTGAAAGGTTTTCGAGTCCTAATTAAAACTTTATTTATGGCAGTATTCATAATTAGCCTGAAATGCATTCTGTAGGTAATCTCTGAGTTTCTGGAATATTTTCTTAGACTTTTTGGATGTGCAGCAGCTTACATGTCTGAAGTTACTTGAAGGCATCACTTTTAAGAAAGCTTACAGTTGGGCCCTGTACCATCCCAAGTCCTTTGTAGCTCCTCTTGAACATGTTTGCCATACTTTTAAAAGGGTAGTTGAATAAATAGCATCACCATTCTTTGCTGTGGCACAGGTTATAAACTTAAGTGGAGTTTACCGGCAGCATCAAATGTTTCAGCTTTAAAAAATAAAAGTAGGGTACAAGTTTAATGTTTAGTTCTAGAAATTTTGTGCAATATGTTCATAACGATGGCTGTGGTTGCCACAAAGTGCCTCGTTTACCTTTAAATACTGTTAATGTGTCATGCATGCAGATGGAAGGGGTGGAACTGTGCACTAAAGTGGGGGCTTTAACTGTAGTATTTGGCAGAGTTGCCTTCTACCTGCCAGTTCAAAAGTTCAACCTGTTTTCATATAGAATATATATACTAAAAAATTTCAGTCTGTTAAACAGCCTTACTCTGATTCAGCCTCTTCAGATACTCTTGTGCTGTGCAGCAGTGGCTCTGTGTGTAAATGCTATGCACTGAGGATACACAAAAATACCAATATGATGTGTACAGGATAATGCCTCATCCCAATCAGATGTCCATTTGTTATTGTGTTTGTTAACAACCCTTTATCTCTTAGTGTTATAAACTCCACTTAAAACTGATTAAAGTCTCATTCTTGTCATTGTGTGGGTGTTTTATTAAATGAGAGTTTATAATTCAAATTGCTTAAGTCCATTGAAGTTTTAATTAATGGGCAGCCAAATGTGAATACAAAGTTTTCAGTTTTTTTTTTTCCTGCTGTCCTTCAAAGCCTACTGTTTAAAAAAAAAAAAAAAAAAAAACATGGCCTGAGAGTAGAGTATCTGTCTACTCATGTTTAATTAAGGAAAAACACTTATTTTTAGGGCTTTAGTCATCACTTCATAAATTGTATAAGCACATTAAATAGCGTTCTAGTCCTGAAAAAGTCCAAGATTCTTAGAAAATTGTGCATATTTTTATTATGACAGATGTTTGAAGATAATTCCCCAGAATGGATTTGATACTTTAGATTTCAATTTTGTGGCTTTTGTCTATTATTCTGTACTCTGCCATCAGCATATGGAAAGCTTCATTTACTCATCATGACTTGTGCCATATAAAAATTGATATTTCGGAATAGTCTAAAGGACTTTTTGTACTTGAATTTAATCATGTTGTTTCTAATATTCTTAAAAGCTTGAAGACTAAAGCATATCCTTTCAACAAAGCATAGTAAGGTAATAAGAAAGTGTAGTTTGTACAAGTGTTAAAAAAATAAAGTAGACAATGTTACAGTGGGACTTATTATTTCAAGTTTACATTTTCTCCATGTAATTTTTTAAAAAGTAAATGAAAAAATGTGCAATAATGTAAAATATGAAGTGTATGTGTACACACATTTTATTTTTCGGTATCTTGGGTATACGTATGGTTGAAAACTATACTGGAGTCTAAAAGTATTCTAATTTATAAGAAGACATTTTGGTGATGTTTGAAAAATAGAAATGTGCTAGTTTTGTTTTTATATCATGTCCTTTGTACGTTGTAATATGAGCTGGCTTGGTTCAGTAAATGCCATCACCATTTCCATTGAGAATTTAAAACTCACCAGTGTTTAATATGCAGGCTTCCAAAGGCTTATGAAAAAAATCAAGACCCTTAAATCTAGTTAATTTGCTGCTAACATGAAACTCTTTGGTTCTTTTATTTTTGCCAGATAATTAGACACACATCTAAAGCTTAGTCTTAAATGGCTTAAGTGTAGCTATTGATTAGTGCTGTTGCTAGTTCAGAAAGAAATGTTTGTGAATGGAAACAAGAATATTCAGTCCAAACTGTTGTAAGGACAGTACCTGAAAACCAGGAAACAGGATAATGGAAAAAGTCTTTTAAAGATGAAATGTTGGAGCCAACTTTCTTATAGAATTAATTGTATGTGGCTATAGAAAGCCTAATGATTGTTGCTTATTTTTGAGAGCATATTATTCTTTTATGACCATAATCTTGCTGTTTTTCCATCTTCCAAAAGATCTTCCTTCTAATATGTATATCAGAATGTGGGTAGCCAGTCAGACAAATTCATATTGGTTGGTAGCTTTAAAAAGTTTGTAATGTGAAGACAGGAAAGGACAAAATAGTTTGCTTTGGTGGTAGTACTCTGGTTGTTAAGCTAGGTATTTTGAGACTACTTCCCCATCACAACAACAATAAAATAATCACTCATAATCCTATCACCTGGAGACATAGCCATCGTTAATATGTTAGTGACTATACAATCATGTTTTCTTCTGTATATCCATGTATATTCTTTAAAAATGAAATTTATACTGTACCTGATCTCAAAGCTTTTTAGCTTAGTATATCTGTCATGAATTTGTAGGATGTTCCATTGCATCAGAAAACGGACAGTGATTTGATTACTTTCTAATGCCACAGATGCAGATTACATGTAGTTATTGAGAATCCTTTCGAATTCAGTGGCTTAATCATGAATGTCTAAATATTGTTGACATTAGGATGATACATGTAAATTAAAGTTACATTTGTTTAGCATAGACAAGCTTAACATTGTAGATGTTTCTCTTCAAAAATCATCTTAAACATTTGCATTTGGAATTGTGTTAAATAGAATGTGTGAAACACTGTATTAGTAAACTTCATCACCTTTCTACTTCCTTATAGTTTGAACTTTTCAGTTTTTGTAGTTCCCAAACAGTTGCTCAATTTAGAGCAAATTAATTTAACACCTGCCAAAAAAAGGCTGCTGTTGGCTTATCAGTTGTCTTTAAATTCAAATGCTCATGTGACTTTTATCACATCAAAAAATATTTCATTAATGATTCACCTTTAGCTCTGAAAATTACCGCGTTTAGTAATTATAGTGGGCTTATAAAAACATGCAACTCTTTTTGATAGTTATTTGAGAATTTTGGTGAAAAATATTTAGCTGAGGGCAGTATAGAACTTATAAACCAATATATTGATATTTTTAAAACATTTTTACATATAAGTAAACTGCCATCTTTGAGCATAACTACATTTAAAAATAAAGCTGCATATTTTTAAATCAAGTGTTTAACAAGAATTTATATTTTTTATTTTTTAAAATTAAAAATAATTTATATTTCCTCTGTTGCATGAGGATTCTCATCTGTGCTTATAATGGTTAGAGATTTTATTTGTGTGGAATGAAGTGAGGCTTGTAGTCATGGTTCTAGTGTTTCAGTTTGCCAAGTCTGTTTACTGCAGTGAAATTCATCAAATGTTTCAGTGTGGTTTTCTGTAGCCTATCATTTACTGGCTATTTTTTTATGTACACCTTTAGGATTTTCTGCCTACTCTATCCAGTTGTCCAAATGATATCCTACATTTTACAAATGCCCTTTCAGTTTCTATTTTCTTTTTCCATTAAATTGCCCTCATGTCCTAATGTGCAGTTTGTAAGTGTGTGTGTGTGTGTCTGTGTGTGTGTGAATTTGATTTTCAAGAGTGCTAGACTTCCAATTTGAGAGATTAAATAATTTAATTCAGGCAAACATTTTTCATTGGAATTTCACAGTTCATTGTAATGAAAATGTTAATCCTGGATGACCTTTGACATACAGTAATGAATCTTGGATATTAATGAATTTGTTAGTAGCATCTTGATGTGTGTTTTAATGAGTTATTTTCAAAGTTGTGCATTAAACCAAAGTTGGCATACTGGAAGTGTTTATATCAAGTTCCATTTGGCTACTGATGGACAAAAAATAGAAATGCCTTCCTATGGAGAGTATTTTTCCTTTAAAAAATTAAAAAGGTTAATTATTTTGACTA)$ MSSRRGSFLSTKLHCSSCLPCPLSFEKFKPSEKLQEH|gfwiqsiktitrytifvlkdimpppnliaelhnillktithhs* 03BR004 ENSG00000113924.12 ENSG00000153767.10 -/+ +/+ chr3:120675939 chr3:120750523 intron 5'UTR/splice-site deletion/read-through/3'-3' 30 38 0 150 120 high . . |C-terminal_general_transcription_factor_TFIIE_alpha(100%),TFIIB_zinc-binding(100%),TFIIE_alpha_subunit(100%) . . ENSG00000113924.12 ENSG00000153767.10 . ENST00000283875.6 downstream upstream duplicates(1),low_entropy(1),mismappers(4),mismatches(1) CTCTAGACAGTTCACAGGCTAGATTGGAAGAGCCACGGTGGGTGGAGGCACTTTGGCCTGAAAGCTAGTCATCCAGGAATAGGATTCAGAGCTCTTCTAAGCACTTTATTTGCTCATACCTGTCCTTCTGGCAGGGAACCTGGGCAGCGAGGATCCTCTGAAGAACACTCATTCCCAAATCCAGAAATGTACTGTAGGTGACAAAGACACAAATGCCACCATTAGCAGGATTTAAAGAGCATTTCAGAAAATTGGCAGTTTACTAAG|TATATTTAAAGTTGGAGTTCGTTGCTAAAGATGGCAGACCCAGATGTCCTCACTGAAGTTCCAGCAGCATTGAAGCGGTTAGCCAAGTATGTGATCCGGGGATTTTATGGCATTGAGCATGCCTTGGCCTTGGACATCTTGATCAGGAACTCCTGTGTGAAAGAGGAGGATATGCTGGAGCTGCTCAAGTTTGATCGGAAGCAACTTCGATCAGTTTTGAATAATTTAAAGGGAGACAAGTTTATCAAATGCAGAATGAGGGTAGAGACTGCTGCAGACGGGAAAACCACcCGCCATAACTACTACTTCATCAATTATCG(TACTCTTGTTAATGTGGTAAAATATAAACTGGACCACATGAGAAGAAGAATTGAGACCGATGAGAGAGATTCGACCAACCGGGCTTCCTTCAAATGTCCTGTCTGTAGTAGTACTTTCACAGACTTAGAAGCTAATCAGCTCTTTGATCCTATGACAG___GAACTTTCCGCTGTACTTTTTGCCATACAGAGGTAGAAGAGGATGAATCAGCAATGCCCAAAAAAGATGCACGCACACTTTTGGCAAGGTTTAATGAACAAATTGAGCCCATTTATGCATTGCTTCGGGAGACAGAGGATGTGAACTTGGCCTATGAAATACTTGAGCCAGAACCCACAGAAATCCCAGCCCTGAAACAGAG___CAAGGACCATGCAGCAACTACTGCTGGAGCTGCTAGCCTAGCAGGTGGGCACCACCGGGAAGCATGGGCCACCAAAGGTCCTTCCTATGAAGACTTATACACTCAGAATGTTGTCATTAACATGGATGACCAAGAAGATCTTCATCGAGCCTCACTGGAAGGGAAATCTGCCAAAGAGAGGCCTATTTGGTTGAGAGAAAGCACTGTCCAAGGGGCATATGGTTCTGAAGATATGAAAGAAG___GGGGCATAGATATGGACGCATTTCAGGAGCGTGAGGAAGGCCATGCTGGGCCTGATGACAACGAAGAGGTCATGCGAGCACTGCTCATTCACGAGAAAAAGACTTCCTCTGCCATGGCTGGTTCAGTGGGGGCAGCTGCTCCAGTGACCGCTGCCAATGGCAGTGACTCAGAAAGCGAGACCAGTGAGTCAGATGATGATTCTCCACCCCGTCCGGCAGCTGTGGCTGTGCATAAACGAGAAGAGGATGAAGAGGAAGATGACGAGTTTGAAGAAGTAGCAGATGACCCCATTGTCATGGTGGCTGGCCGTCCGTTCTCCTACAGTGAAGTGAGCCAACGGCCAGAGCTAGTGGCCCAGATGACACCAGAAGAAAAGGAAGCATATATAGCAATGGGACAACGCATGTTTGAGGACCTCTTTGAGTGAGCTTTCCCTAATTCTTTCTCCTTTCTCTAATGCTCAGTTCAAAAAGGAATGTCTCATCTTTGAAGAAAAGTATTTAAGTGGCTTTCTGCCCCTCTTGATGTAAGCAACTGTCCATCCTTGTGCAAAGATTGATGGTAGAGAGTTTGACTTTTATGCCAGAAACTTTCCCAGCAAGGTAGGGTGCTGAGAATCCTACCCTTCCTTGCTGTCACTACAGTATTAATATTTTACTGTATTTTCTTTTCTTTTTTTTTTTTTTTTGGAGATGAAGTCTCACTCTTGTACCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTAGCCAGGATGATCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGTATTTTCTTATCTGATTTTTTTCTTGCCTTATTAAGACATAATTTTCTCCCTTCTGAAATGAGTGAGGGAAGTTCATAAGGTAAATCCTTCCCATCCATCTGTTTACTACAATAGGTTACAATAATTCACTGATCACATCCATTTTATCTGTTCTAGCCAGGCATTCCAAACAATTTCTTATACTGCTGCCCACCAAAGCAGCTTGCCAACAGTCAAATCACTGATTGGGGGAAAAAATCCTGAAATTTTGCTTAGAATTTGAGCATTTCCTCAAAATTGAGATGGATCAATATGTAAGGGGAGGTGGGAGCGTGTGTGGAAGGGGGAGAGATATACTTGAGTCTTATGATTAATGTCTAAACCAGAATTTGTGTCTTTAGAACTGACCAGACTGGTAGATTTTATTGTATTGCTTAATGTCTTTTGGTTTGGATTTAGGATGATAGAAAACAGAAGTATAATTGGTAAACCCTTAGGAAGAAATTAGAAAAACATGGACGTAAGACAAGAAGTCTCTGTGAAGGGTTGAAGAGTGACAAGCATTGGTAACAGTGCCTTAGAACTGTGTCAGTTAGTCTGATTTGGAAATCCTTTATGTAAAGCTGAGACTGGTCCTGGTTTTGTTCCCTTTGGGTACAGACCTCTTGTCAGTGCTATAAATTGTTTAATGAGGCCATTCCAGCAGAAATCAACAGAATAATTGATTACTCTTCTCTCTCTCTGTCACTCTCCCTCTTTCTAAACATCATTGAAGGCTGTCTCTCTTTTAATTTTTGTCAGACACAGTATTTTAGGGTGCATCCAGTATACCATTGAGCATTGTAACCTCAGGAAACAGTTTATTTTGGGTTCTGATATGTAGCATGGTATTTTCCCTAAGGCAGAACTTTAAAAATAAAGAACTTTCACACAAGGGTCTGTAACAATTGTATATCTTACAATATTTTTCCTTGCATTGTAATTTTTAAGTATTTATCATTTTATAGTACACATGTAAAGAATATATGAGCCTTGTATGGAGTGATGTTTCATTTACCTGGGTTGTGTTAATGACTGAATGTTGACAATAAATCTGTTTTATACTGA)$ . 03BR004 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 10 9 0 61 34 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTG)TGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 03BR004 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 7 1 19 21 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1),mismappers(1) CTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCG(ACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 03BR004 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 7 0 103 44 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGA)AGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 03BR004 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 14 0 15 76 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(2) GCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGG(CTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 03BR004 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 5 0 21 20 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGC(CAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 03BR004 ENSG00000106683.15 ENSG00000163602.10 +/+ -/- chr7:74115958 chr3:72372751 CDS/splice-site 3'UTR translocation 0 2 0 56 5 medium out-of-frame . LIM_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Protein_kinase_domain(100%)| . . ENSG00000106683.15 ENSG00000163602.10 ENST00000418310.5 ENST00000477973.3 downstream downstream . ^(ACTGGGTTCACGTGGGCACGTGGCTCCACTCCGGTCACTGCTTCCTGGGCAGAGGGATGACGTGGAAGGTAGACCTAGGGGGGACAGGGTTGCTTCCTGCCCATGTCCAGCATTCTAGAATTGTCCACATCTAGGCAGGGCGTTCCACCATCAGTGCTGGACTGGACCACCCAATTCCTTTGGACGCTTGACTCAGCCCAAACCCGTGCTCCCTCCAGGACCCTGGGCAGGGCAGCCCCAGCTCCAG___GAAGCGAGTTGCCCGTGTGTGCAAGCTGCGGCCAGAGGATCTATGATGGCCAGTACCTCCAGGCCCTGAACGCGGACTGGCACGCAGACTGCTTCAG___GTGTTGTGACTGCAGTGCCTCCCTGTCGCACCAGTACTATGAGAAGGATGGGCAGCTCTTCTGCAAGAAGGACTACTGGGCCCGCTATGGCGAGTCCTGCCATGGGTGCTCTGAGCAAATCACCAAGGGACTGGTTATG___GTGGCTGGGGAGCTGAAGTACCACCCCGAGTGTTTCATCTGCCTCACGTGTGGGACCTTTATCGGTGACGGGGACACCTACACGCTGGTGGAGCACTCCAAGCTGTACTG___CGGGCACTGCTACTACCAGACTGTGGTGACCCCCGTCATCGAGCAGATCCTGCCTGACTCCCCTGGCTCCCACCTGCCCCACACCGTCACCCTGGTGTCCATCCCAGCCTCATCTCATGGCAAGCGTGGACTTTCAGTCTCCATTGACCCCCCGCACGGCCCACCGGGCTGTGGCACCGAGCACTCACACACCGTCCGCGTCCAGGG___AGTGGATCCGGGCTGCATGAGCCCAGATGTGAAGAATTCCATCCACGTCGGAGACCGGATCTTGGAAATCAATGGCACGCCCATCCGAAATGTGCCCCTGGACGAG___ATTGACCTGCTGATTCAGGAAACCAGCCGCCTGCTCCAGCTGACCCTCGAGCATGACCCTCACGATACACTGGGCCACGGGCTGGGGCCTGAGACCAGCCCCCTGAGCTCTCCGGCTTATACTCCCAGCGGGGAGGCGGGCAGCTCTGCCCGGCAGAAACCTGTCTT___GAGGAGCTGCAGCATCGACAGGTCTCCGGGCGCTGGCTCACTGGGCTCCCCGGCCTCCCAGCGCAAGGACCTGGGTCGCTCTGAGTCCCTCCGCGTAGTCTGCCGGCCACACCGCATCTTCCGGCCGTCGGACCTCATCCACGGGGAGGTGCTGGGCAAGGGCTGCTTCGGCCAGGCTATCAAG___GTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAG___GTGAAGGTCATGCGATGCCTGGAACACCCCAACGTGCTCAAGTTCATCGGGGTGCTCTACAAGGACAAGAGGCTCAACTTCATCACTGAGTACATCAAGGGCGGCACGCTCCGGGGCATCATCAAGAGCATG___GACAGCCAGTACCCATGGAGCCAGAGAGTGAGCTTTGCCAAGGACATCGCATCAGGGATG___GCCTACCTCCACTCCATGAACATCATCCACCGAGACCTCAACTCCCACAACTGCCTGGTCCGCGAG___AACAAGAATGTGGTGGTGGCTGACTTCGGGCTGGCGCGTCTCATGGTGGACGAGAAGACTCAGCCTGAGGGCCTGCGGAGCCTCAAGAAGCCAGACCGCAAGAAGCGCTACA)CCGTGGTGGGCAACCCCTACTGGATGGCACCTGAGATGATCAACG|CTGAATCCAGACTCAGAATCCTCATTAGAGCTCATTGTTAGCACGTCTTCCTGAAGTGCAACCCATTTGCCATTCCTTCCCTGGACGAAACCCACCCCAAAT(AACTGGGAAACCCTTCAAGGCAGTTTTTAATCAACACTTCAATTGTGGAACTGCATGAATCCAAGAAGGCCAGCTGAGAAGCTCGGAGGAGTCAGGAAGGAAGAAAACTAAATATCCAACACCCAACTCTTCAAAGAGTTCAACTTCCTGTTCAAAACAGGGTCAGACCAGGGGATTCTTAGTGAGGCCAGTGATGAGCACTGTAACTTTAAATGCAGCCCTGAACCCCAGACCTGAAGGCCTGCCAGTGTCTTACCCTACAGGCCAGACCGGGACCTACTTGCCCAAGCTGTCCTACTGGTTCTGTCAACCGGGGGCTCTCAAATAACAGAGTAGAACACCACATGGATATGATTCCTGGAAACCACAGAACTAGGTGAGACTCCTACCTCTGACTGCCTGGGTGTCCTTGGGCAAGTCAGCTGACCGGGCCATTTCCCTCAGTTGTCAAGTAGGGATTAGAGGTGTATGTGCTCCTACTGTGTTCTCTGCTCCAAGGAATCATGGCGCAGTGCTCCCAGAGGTGGGTTGTGTGTTACCATGTTTTTAACAACGGGAAGCAAAAACTTTATTTGAACTTTCATTCTGATGCTTCACTGATGACACCGGAAATGAAGATAATTTGTTTTGTGATTGTTTTATTGTGTTTTCAAGTTTTAATTCATGAATTTTCCTGTACTAAAACAAAGAGCAAAGTTGGTTAAAGCCTGCATGTAAATAAAGTCCAGTGGGATTTTTGACACCTGCTTGACGTTTCTATGTCTACAAACAGTGTTGTAATGAATACGGCCTTTCATCATTAAACATTCGATTTTTTAAAAATGA)$ MSSILELSTSRQGVPPSVLDWTTQFLWTLDSAQTRAPSRTLGRAAPAPGSELPVCASCGQRIYDGQYLQALNADWHADCFRCCDCSASLSHQYYEKDGQLFCKKDYWARYGESCHGCSEQITKGLVMVAGELKYHPECFICLTCGTFIGDGDTYTLVEHSKLYCGHCYYQTVVTPVIEQILPDSPGSHLPHTVTLVSIPASSHGKRGLSVSIDPPHGPPGCGTEHSHTVRVQGVDPGCMSPDVKNSIHVGDRILEINGTPIRNVPLDEIDLLIQETSRLLQLTLEHDPHDTLGHGLGPETSPLSSPAYTPSGEAGSSARQKPVLRSCSIDRSPGAGSLGSPASQRKDLGRSESLRVVCRPHRIFRPSDLIHGEVLGKGCFGQAIKVTHRETGEVMVMKELIRFDEETQRTFLKEVKVMRCLEHPNVLKFIGVLYKDKRLNFITEYIKGGTLRGIIKSMDSQYPWSQRVSFAKDIASGMAYLHSMNIIHRDLNSHNCLVRENKNVVVADFGLARLMVDEKTQPEGLRSLKKPDRKKRYTVVGNPYWMAPEMIN|aesrlrilirahc* 03BR005 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 11 17 0 97 59 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAA)GGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 03BR005 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 10 8 1 29 22 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream mismappers(1),mismatches(1) AAAaTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAG(GAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 03BR005 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 6 1 20 18 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(1),mismappers(1),mismatches(2) CTTCATCACCAGCGTGGACGCCGCCACGAaCTTCGAGGgGaTCTGTGtGGAAGTGAGAGACATGTGTaGTCTGaACaAGCAGCgCCCGCT...CCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAG(GAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 03BR005 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 6 0 91 40 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACAT)CAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 03BR005 ENSG00000132109.10 ENSG00000258231.5 -/- +/+ chr11:4393633 chr12:58544124 5'UTR/splice-site exon translocation 0 6 0 8 13 medium . . . . . ENSG00000132109.10 ENSG00000258231.5 ENST00000254436.8 ENST00000546977.5 upstream upstream . ^(AGACTTGCTTCTGAGCG)GAAACTGAAAGTGAAATAGGGAGCTGGCTACCAGCGTTGAGTCCCCTGTAAAG|ATTGAGCCTCGGGATGGAATAACTGTGAGATGTGTTTGTTGCATTCACATATACAG___TTCTCAAACAGTAGCTGCC(ACTTCTAGCTGGGAGAGAAATGAGAGCTCTGCTCATGGTGATCCAGTATCTCCAGAATCCATCACCACTGCTGACCTCCCACTCCATGTCTCCAAGTGCTCTGCTATACCTGCCACCAGCAGCTGCCACCTCCAGACTTTGGAAGGTTATAATAAAACCTCTGTTCTACGATCTGCCTTCTGCTTCAACATCCTCACTCCCCACAAACAATTCTAATAAACAGCAATTAATCTGAAAGTGTTTTTGCAATTTTAATGTATGAGATATGGTTTCTCTCAAAAGCTACACTGCTCTTGTGTCCTTACAAGGTATTTTCTTAGCAAGAATAATCTGTTTGCATGGGTGTTAATGACTAAATCCCTTTCTTGTAAAGTTATGCCCATCTGTCACACAAGAAGAATAGTACCCTTTAGAGAGCGCTGAAATGTAGGGAAATGTAGGGAAAATGAGCAGCTATTCAAAAAGGTAAAATGCTGCCACAGAGCCTGATAAGAGCAATTAATTAAACATTAAGTGTAGAATAGGGAATATATGGCATGGGATAAATTATAGTCACAATTCATGTTTCTTTTGTCTCCAGAAGTTCACACACAAAAACCCATGCCTTTACAAAACAATAAATTCAGCA)$ . 03BR005 ENSG00000257657.3 ENSG00000015153.14 -/- -/- chr12:45600664 chr12:42161765 exon/splice-site CDS/splice-site deletion 0 2 0 3 46 medium . . . . . ENSG00000257657.3 ENSG00000015153.14 ENST00000551229.3 ENST00000327791.8 upstream downstream . ^(CATTCTTTTAAACGGCTCCCCCACTTCCAATCTTAGTTTCCGTCCCAATTTG___GGAATTGTTCCTGCCTGGAGGTGAGGGAACCATCAATGGCCTTGTCTGA)GATGCACGCCTTGGTGCACAACAAACTCCTCTGCCATCGCTTAGTCCTTCAAAGCTGACAGTGCTTTTAGAG|GAAACCTCGACCTGTCTCCCAGTTGGTTGCACAGCAGGTTACTCAGCAGTTTGTGCCTCCTACACAGTCAAAGAAAGAGAAAAAAGATAAAGTAGAAAAAGAAAAAAGTGAAAAGGAAACAACTAGCAAAAAGAATAGCCATAAGAAAACCAG___GCCAAG(ATTGAAAAATGTGGATCGGAGTAGTGCTCAGCATTTGGAAGTTACTGTTGGAGATCTGACAGTCATTATTACAGACTTTAAGGAGAAAACAAAGTCACCGCCTGCATCTAGTGCTGCTTCTGCAGATCAACACAGTCAAAGCGGCTCTAGCTCTGATAACACAGAGAGAGGAATGTCCAGGTCATCTTCACCCAGAGGAGAAGCCTCATCATTGAATGGAGAATCTCATTAAAGTTTATTTTCTCCAATTTCTTAGTCACTTCTGTCCTACCATGCAAATACACAGATTATGCCAAGAGGTACCACATTTTCATGACAGATACATTCATGCACAATCCATAATTTGAGTTTTACATAAAATAGAAATTTGTTAGAATTTGTTAGATTTTATTGCAATGATGCCTACCAAACATTTCCAGACTTAACATTTTGGTCTCTGCAGTTAAGTGCCATGAAAATGTGGTTGAATTATTCATTATGCAGTGTTATTGGTAAGTGTATTTTCACTTTTAGTTTAGTGAATTCTAACACATAATTCTTGAATTCTCTACTATTGGCATGTAACGAATTTAAATTTTTTATAACATAGTGCAAGCTGCCTAAATATGTATTATTTGAGAATTGTGAAACAGATAGTTATATGTATACAAGTCAAAGAACAACTTAACTATTGCTGCAACAGGTTTTTCTTAATGGTTATCCTCTTAAATACACCTGCTGGTACTTGGTGTGGTTAAATAGGAAAATTGTTATTAAATAAAGAATTTGTATGAACCTTTGCCAATGTTTTTGACACGTTTTACTAATTATTGTTCCTGAATTATGTTTCTGGTTTTATCTATTTTTTGAGGTTTTTTTGTTTGCTTATTTTTCAAAACATTCATTTATTGTAATGTTTACTAGCGGACTAGTAAACAATAAAACATTGATTATTTAGCTTTATAATTCAGGTTTAGTGCTATTGTCATTGAACACTGGTATTTTCTGTATCATATAAAACATTAAAATTCAAATAATTATAAGCATTTGGCAAAAACAAGAGAAAAGAAACTTGCCATATTTTACAAGCTGCAATTTTAGAAAAGCTTTAACTTAATGATAGTTTTATCATTGTTTTCTTGTCCCAAACTTATCCAGGGCCATAGAAGTATGAATCTAATTAAAACAGAAATGGGAATTATTGCACAGAAATGGGAAATAACTAATTTTAAATCAGTCAAATTGGCTTCTTATTAAATACAATAATTCTTATGAAAATCATAGTACCCTATTTTCAGACACAGCTGCCAGTTTACACATTTCTCAGTATCCTGAAAGGAAAAAAGTATAGCCCCACTTATACTATGTAAAATTACCAATAAAATATTTTTATGACTACAGATTTTGCATTTTTGTTTACAACTATTTAAAGAGTTTTATGTTGTATTTAGAATTTCAACCTAGAAACCACACAGTACTTAAATTCTCCTGGGGTCTCCTGCTTTCTCTTAACCATTTGCTTAATATATATCTACCTAAAGGAGACTTCTGAATTGTAAATGAACTTAAAAATAGAATGTGGATGCAAAATATCACATAAGACATCATGATAACATTTGAAGAAAAAATAAAACTGTAGACCCTAACAGTTGTGATATTTGGTGGTTTCATGTGGTAATGTAATTTTCTGTTTAATTACAGTACTTTTTACAGGCACAGTGGTACTGTCTTTTTTGTAAGATGCTAGTTGTGAAATACAATTAATTGCATACAGTAAAAGTCTGTGATTAAAACATTTATATACCTCATTCTTTAGTGTTGTTAAATGAAAAATTAAAATTTGTGTTTATTATAAGATACTTTCAATGGAATACCAGCTAACCAGATATGTTCCTTTAAAACATGAATTTTTTTGTCTTATTCTGTTTTTAACATGTTTCAAATGTTTTATACATTTTTGGAGATAGTAAAAATTTAAAAATGTAATAGGGAAAATATTTAATTTTTAAGTCAAAAACTATGCTTTAAAGGAATTACATCTTATGATCAAATAACTTTCAGGATGTATTTTAAATGAGCTGCAAGAGAGAAAAATCTGACAGGAGATGGGATTTTACCTGAATGGAGCATACTCATATTTCTACATAGGTGGGAAGATACTCATCTTTCTACATAGACGGGAACACGGTGTAGCATGGAGATTAAGCGTGCTAACTGACACCTCATGTTTGAATCCTGTTGTAGAATGGAAATGAGCTTAAATTACCCAAGCTTACTTTCCATCTATAAAACAGGGCTAATAATGGTAATCACATCTAATTTATAGGGTTTTTGGGAGGATTAAGTCAATCCGTGTAAAATTCTTAATTATCTGACACATACTGGTCACTCAGTAAATGTGAGCTTTTACCATTGTTATAGGTAAAATCCCATTACAAAAATACAAAAATATTTTTTGTAACAGTTATTTTCCTGCCCTCTTGGATGACCTAAAGTAATAGTGTTTTATAGATTTCACTAAATTTTCAGTGTAATATCAGATGTTTTCTCTGGATGCAGAAAGACCATCTTTCCATAATTAAAGAACCTGGTGGGTGTGCACTATGAGATTGGAGAAATGAATTAAGTTGACTTGAAATTATTTTACTTTTATTAATCACAGGTATCTCAACCTGCCTTTGTTTCACCCTACTTCAAGTACACTTCCACACCAGGAAAACAGACCCAAATTCCATAAACAGAACTGACGTTAAAATATGCGAAAGATTCAGAACCTAGGTTTAGGGTACATGTTTTTCTCTGTTTCATGAACTTACAGTGTGGTTTGAGCACTGGGTTCTTTTAGCCAAATTCCATACAAAAAGAATTTGGATGTTTTCCAGCATTTATTACCTTACTTTGCTATAAGTAAGAGTGAAGATAGGCCGGGTGTGATGGCTCATGCCAGTAATCCCAGCACTTTGGGCTGAAGCAGGCAGATATTTTGAGCCCAGGACCAGCCTGGGCAACATGGTGAAAGCTCATCTCTATGAAAAAATTTGAATATACATATATATATATATGTATATTTAAAAAGTGAATATAATTTGAGGCACAGAAGAATATTCTTAAAACCTTTTGTATTATACAATAGAAATAAAGGTTTTATTTTTATTAAATGCTTTCCTAAAATGATAGTGGATAATAGACAAAGTGAAAACATTTAAAAAGGAAGAGAAACTTCAGCCTTTCTAAGTTGATAGCATGTTTATTAACTTTTAGATAAAGATCCTTATAGACTGAAAGAATGTAGCCTCTGCATTAATGGTAAATGGTCTAGAAGTTTTCGTTTCCACTGAGGCTTCCGCCACTCGCTTTTTTAAACTTCCTGCTATGGTTTGGATATGGTTTGTCCTCACCAAAACTCATGCTGAGGCCTGAGTCCCCAGTTTGATTGTGTTGGTAGGTGGTGCCTTTAAGAGGTGATTAGGTCATTGAGATGGATTAAAGGCTTTCTCATGAGGCTCAGTTAGTTCTGGAATGGATTCGCTCTTGCAGGAATGGATGAATTCTCACAAGAGTGGGTTGTTATGAAGTGAGGATGCTTCTTGTGTTCTGTTCTCTTTGCCCTCCTCAGTTCACCATCTGCTTTCCACCATGAGTTGAAGCAGCATGAGGCCCTCATCAGATGGGCTCCCTGATCTTGGACTCCTCAGCCTTTGGACTCATAAGCCAAAATAAATCTGTTTTCTTTATAAA)$ . 03BR006 ENSG00000011260.14 ENSG00000011258.16 +/+ -/+ chr17:51263386 chr17:51252205 CDS/splice-site intron duplication/5'-5' 37 45 0 218 194 high out-of-frame . . . . ENSG00000011260.14 ENSG00000011258.16 ENST00000225298.12 . downstream upstream duplicates(14),mismatches(2) ^(GTTCCACGTGAGCGCCTGCGTTTCTCCTCAAACCTAACGATGCCGCCGGAGCGGAGGAGACGAATGAAACTGGACCGGAGAACCGGAGCGAAGCCGAAGCGGAAGCCCGGAATGAGGCCGGACTGGAAAGCCGGAGCGGGGCCAGGCGGGCCTCCCCAAAAGCCTGCCCCTTCATCCCAGCGGAAACCGCCGGCCCGGCCGAGCGCGGCGGCCGCTGCGATTGCAGTCGCGGCGGCGGAGGAAGAGAGACGGCTCCGGCAGCGGAACCGCCTGAGGCTGGAGGAGGACAAACCGGCCGTGG)AGCGGTGCTTGGAGGAGCTGGTCTTCGGCGACGTCGAGAACGACGAGGACGCGTTGCTGCGGCGTCTGCGAGGCCCGAGG___GTTCAAGAACATGAAGACTCGGGTGACTCAGAAGTGGAGAATGAAGCAAAAGGTAATTTTCCACCTCAAAAGAAGCCAGTTTGGGTGGATGAAGAAGATGAAGATGAGGAAAT|GAGGAAGCAGTGGCCCAAATAGGCTAAGCAACTTGCCCAAGATCATATAACCACCATGAACACTAATAATATGAATCATGGGACTATCTTAAAACaTTTTAAATTTTAACCTTCTTTCTCCCCCCTCCCCAATACTGGTTCTGTCAGCTAGCCTCTGTAAGCATACAAAACAAGCATCAAATAAATATGTTTCA MPPERRRRMKLDRRTGAKPKRKPGMRPDWKAGAGPGGPPQKPAPSSQRKPPARPSAAAAAIAVAAAEEERRLRQRNRLRLEEDKPAVERCLEELVFGDVENDEDALLRRLRGPRVQEHEDSGDSEVENEAKGNFPPQKKPVWVDEEDEDEEm|rkqwpk* 03BR006 ENSG00000156170.13 ENSG00000164944.12 +/+ -/+ chr8:95047127 chr8:94495745 CDS/splice-site CDS duplication/5'-5' 33 32 2 428 270 high out-of-frame . Squalene/phytoene_synthase(100%)| . . ENSG00000156170.13 ENSG00000164944.12 ENST00000396113.5 . downstream upstream duplicates(13) ^(CGCCTGGCCAAGTGCGGCTCTGCTCTCCCCAGTCCCGGTCCGCGACCACCCGGAGCCCGCTCCGCCGGCCTTGCGCGGCGCGCCCAGGGAAGGCATTTCCAGCCCGCCCACCCAG___GACTGTTCTAGAAAAAGTCTTAAAGGCCTACCCTCCTACTGATGACCCAGAGACTGTCCCTGCCCAGTCACTGCTACTGTTGACCTTGGCTCCTGCCCAGGGATGGAGGCTCTCAACTGGGCTGGTTCTACATGGAG___GTCTCTTCTTCGGCCTTTCTGACATGGTGCCAGCCCTACTGGAGTCAGCAGGAGTCCAGCACAACAGATGGTGGTCAGTGGTGACTTCGGCACAGGCAGTTCGTGAGGAGTGGTTGGTGGCCATGGAGTCCTGACTGGAGTAGGTTAAAAAGAAGGAGGAAAATCACAAGAAAGAGAGACTGGAG___GTGGAGGTTGGGGAGAAAAGAGATAATGGTATGGTGAGATGTCTACTGAACTGCTCCTGCCAAGGCCCCTCCCCATGTACTCTCAACGAAAGTTGCAG___CCACCCATTCTCATTTTGTGGATATAATTCCCTGCTTTAGTTTTCTGAGCACAAGAAATCAACTTTGGCTGCACATTGGAATATCTGAGAAGCTTAAAAATACTGATGTTTGGACCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAG___CCACCTCTCAACAACCCATGAAGTGTCTGGAGCTCCACCCTCTGCTCAAGAGGAACGGCACATGACCCAGGCCTATGCCAATCAGCATTTCACATTCCTCATGGTTGGTTCAAAG___TGAAGCAACTTTCCCAGAAGCACCACAGTGGACTTGTTCTCAAGTCTAATTGGCCAGATCAGGGAAATATGCACTGTCCTGGACCAGTCACTGGTGATGAAAGGGTAACACCCACCACCGGGGTTCTGCTACTACACAGGATGAAGAAAG___GAAACGGGATTATGAAGGTTATTTATGCTCCCTGCTGCTCCCTGCAGAATCCCGAAGCTCTGTTTTTGCACTGAGGGCCTTTAATGTGGAACTGGCTCAGGCTG___GTTAAAGACTCAGTCTCTGAGAAAACAATTGGACTGATGCGAATGCAGTTTTGGAAAAAAACTGTGGAAGATATATACTGTGACAATCCACCACATCAGCCTGTGGCCATTGAACT)ATGGAAG___GCTGTTAAAAGACATAATCTGACTAAAAGATGGCTTATGAAAATCGTCGATGAAAGA___GAAAAAAATCTGGATGACAAAGCATATCGTAATATCAAGGAACTGGAAAATTATGCTGAAAACACACAGAGCTCTCTTCTTTACTTAACACTAGAAATATTGG___GTATAAAGGATCTTCATGCAGATCATGCTGCAAGTCATATTGGAAAAGCACAAGGCATTGTCACTTGCTTGAGAGCAACACCATATCATGGGAGCAGAAGAAAGGTGTTCCTTCCCATGGATATTTGTATGCTG|ATTCTGAAGAGATTCTGGAGCTGAAAGTACTGGTTCTACATCCTGGTCACTGAGAGGTAAAGGGTCACCTGATGACTCCAGCATCTGCTTAAGTCCAACTACACTGTCCAACAAAGAATCCAGATTGTCATCATCTTTTGAATGTTCCTAGATACAAATAAAGGCAGAATAAGAAGGTGCAGGTAAAACTTATGTCTGTAAACCTACTGACTCTTTCGTAGAAAAGGCTATATGTATTATTACTAAGAAATTTGGAACACTGTCCAGA MWNWLRLVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICML|ilkrfws* 03BR006 ENSG00000136560.14 ENSG00000244372.3(106332),ENSG00000232337.1(64424) +/+ ./+ chr2:161179761 chr2:160984182 CDS/splice-site intergenic duplication 18 20 1 181 73 high out-of-frame . . . . ENSG00000136560.14 . ENST00000259075.6 . downstream upstream duplicates(6),mismatches(1) ^(TTTCTCAGTGGAAGTTCCCACTTCAACATAAGGGAGAGCTC)TGGACAGTTTGAGCAGCATTGTTAGAGCCTGTGGAAAACACTTTACAACTGTGTAACTGTCTTCATCTTTACAGAGGAATAGTCTACAAAGGAAGACTTGTAACCTGGAGAAGAG___ACCTGTCATTTACTCCATCCTTTATAGTGATGCTACAGGACGAAGAGGAATGGATAAAAACATTGGCGAGCAACTCAATAAAGCGTATGAAGCCTTCCGGCAGGCATGCATGGATAGAGATTCTGCAGTAAAAGAATTACAGCAAAAG|GTAAGAGGTGACTTTCACCTTCCACCATGATTGTGAGACCTTCCCAGCCACAAGGAACT___GAGCATGAAATAATCTCAGAAAAAGTTCCAGCCAtGCACATCAGGAAAGCTTGCCAAAGTAAAGGGGAAACTACTTCTACAAAGAAGAAGAAATATTGCCTCCTCCTTTCAG...___GTACACCAATCAGATGCAGATTTGGTCTTTTCACATAGTCAAGATGGCCG MDKNIGEQLNKAYEAFRQACMDRDSAVKELQQK|vrgdfhlpp* 03BR006 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 28 11 0 260 138 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(6) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAG)CGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 03BR006 ENSG00000105556.11 ENSG00000197540.8(12729),ENSG00000267751.5(4568) -/- ./- chr19:325635 chr19:562653 CDS/splice-site intergenic duplication 22 6 0 115 42 high out-of-frame . ELM2_domain(100%)| . . ENSG00000105556.11 . ENST00000264819.6 . upstream downstream duplicates(4) ^(ATGGCGGAG___GCCTCCTCGCTGGGGAGGCAGAGTCCTCGCGTGGTCTCCTGCCTCGAGCACAGCCTGTGCCCAGGGGAGCCGGGCTTGCAGACAACAGCAG___TGGTGTCCATGGGCTCTGGAGACCATCAGTTCAACCTCGCAGAGATCCTGTCACAGAACTACAGTGTTAGGGGGGAGTGCGAGGAGGCCTCGAGGTGCCCAGACAAGCCCAAGGAGGAGCTGGAGAAGGACTTCATCTCCCAG___AGCAACGACATGCCCTTTGATGAGCTGCTTGCGCTCTATGGCTACGAGGCGTCAGACCCCATTTCAGACCGGGAGAGTGAGGGTGGTGACGTGGCCCCGAACCTCCCAGACATGACCCTGGACAAA___)GAACAAATAGCGAAGGATTTGCTTTCAGGGGAAGAAGAGGAAGAGACGCAATCATCTGCTGACGACCTCACCCCGTCCGTGACCTCCCACGAGGCCTCCGACCTCTTCCCTAACCGGAGTGGAT___CTCGTTTCCTGGCTGATGAAGACAGAGAGCCTGGCTCTTCTGCCTCCTCCGACACCGAGGAGGACTCTCTTCCTGCCAACAAATGTAAGAAG___GAGATCATGGTGGGACCTCAGTTCCAAGCTGACCTCAGCAACCTGCACTTGAACCGGCACTGTGAGAAGA|GCCTCCACCCCTCGAATTCCCAGTTCACCGACACCAGCCTGGGGATCACCTCCTTGTCAGAAGTTGGAAAGAGGAAAAACTCAGCCAACCTGGGAAGGACTTTATCGGGTGCTCCTGACCACCgAGATGACGGTCGGAAAGGGCCCCATCCCTGGAGGGATCTTGGACCTTCACTCCAGGATCAACGCCTTCCAAATTAACATTCAAAAAGGTTTAATCTGTCTCTTCCTTCTCCCTGTAGCCGCCCAAGGACGTCTTATTATCAATATAAGG MAEASSLGRQSPRVVSCLEHSLCPGEPGLQTTAVVSMGSGDHQFNLAEILSQNYSVRGECEEASRCPDKPKEELEKDFISQSNDMPFDELLALYGYEASDPISDRESEGGDVAPNLPDMTLDKEQIAKDLLSGEEEEETQSSADDLTPSVTSHEASDLFPNRSGSRFLADEDREPGSSASSDTEEDSLPANKCKKEIMVGPQFQADLSNLHLNRHCEK|slhpsnsqftdtslgitslsevgkrknsanlgrtlsgapdhrddgrkgphpwrdlgpslqdqrlpn* 03BR006 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 5 20 0 60 51 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(5),inconsistently_clipped(1),mismappers(1) GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCAC(CCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 03BR006 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 10 13 0 33 33 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(3),low_entropy(1),mismatches(1) GGGACATCTTCATCACCAGCGTGGcCGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCcCCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATG(GAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 03BR006 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 6 10 0 35 34 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(3),mismatches(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GG)GTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 03BR006 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 8 6 0 35 24 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1) CAGAAAGAAGGACaTTGCTGCTTTGGGCCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT(___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 03BR006 ENSG00000115760.14 ENSG00000115760.14(6271),ENSG00000018699.13(2880) +/+ ./- chr2:32549481 chr2:32625170 CDS/splice-site intergenic inversion 5 6 1 39 33 high out-of-frame . Baculoviral_IAP_repeat-containing_protein_6__(100%),Inhibitor_of_Apoptosis_domain(100%)| . . ENSG00000115760.14 . ENST00000421745.6 . downstream downstream duplicates(1),mismatches(1) ^(TCCCTGCTTCTCCCCCTCTCCCGTCAGCCTCCCTCCGAGTTTGGCCCCTCCGGCCGGGCGATCGACGTTCCGCGTGCGTGCGGGCGCCTGACTTCACTTCCGGCTAACGCGCTCGGCTTGCCCCCTGGCCCCGGATGGTGACTGGTGGTGGTGCTGCACCTCCCGGGACTGTCACTGAGCCGCTTCCCAGTGTGATTGTGCTGAGCGCAGGCCGGAAGATGGCGGCTGCGGCTGCGGCGGCCTCGGGCCCCGGCTGCTCCTCGGCGGCGGGGGCGGGGGCGGCCGGGGTCTCAGAGTGGCTGGTGCTGCGGGACGGCTGCATGCACTGCGACGCCGACGGGCTGCACAGCCTGTCCTACCACCCTGCGCTCAACGCCATCCTGGCCGTCACTAGCCGCGGGACCATCAAAGTCATCGACGGCACCTCGGGGGCCACACTGCAGGCCTCCGCGCTCAGTG___CTAAACCAGGTGGACAGGTGAAATGTCAGTATATCTCTGCTGTGGATAAAGTTATATTTGTGGATGATTATGCAGTAGGGTGTAGGAAGGACCTTAATGGAATCTTGTTGTTAGACACTGCTCTGCAAACTCCAGTTTCAAAGCAGGATGATGTGGTTCAGCTTGAATTACCCGTTACAGAG___GCACAGCAGCTCTTATCAGCATGTTTAGAAAAGGTAGATATTTCTAGTACAGAGGGTTATGATTTGTTCATCACACAGCTCAAAGATGGTTTAAAAAATACATCTCATGAGACTGCAGCAAACCACAAAGTTGCTAAG___TGGGCCACAGTTACATTTCATCTTCCTCATCATGTGTTGAAGTCCATTGCCAGTGCCATTGTAAATGAACTCAAGAAAATAAATCAAAATGTTGCTGCCTTACCTGTGGCGTCCTCAGTGATGGACAGATTGTCTTACCTCTTACCTAGTGCACGTCCAGAACTCGGAGTGGGGCCAGGCCGTTCTGTAGACAG___ATCACTGATGTATAGTGAAGCTAACAGACGGGAGACATTTACCTCATGGCCTCATGTAGGCTATAGGTGGGCACAACCAGATCCCATGGCTCAAGCTGGATTTTATCATCAG___CCTGCCTCATCTGGAGATGATAGAGCCATGTGTTTTACTTGTAGTGTATGCCTCGTTTGTTGGGAACCTACTGATGAACCTTG___GTCTGAACACGAAAGACATTCCCCAAACTGCCCATTTGTGAAAGGTGAGCACACACAGAATGTGCCATTGTCAGTCACTCTTGCAACAAGTCCTGCACAGTTTCCTTGTACGGATGGAACTGACAGAATATCTTGCTTTGGGTCGGGGAGCTGCCCTCATTTTCTAGCTGCTGCAACTAAACGAGGAAAGATCTGCATATGGGATGTTTCCAAACTTATGAAG___GTGCACTTAAAGTTTGAAATTAATGCCTATGATCCAGCAATTGTACAACAGCTTATTCTATCAGGAGACCCAAGCTCAGGAGTTGATTCAAGGAGACCAACTTTGGCGTGGCTGGAGGACTCCTCTAGTTGCTCAGATATACCAAAATTGGAAGGAGATAG___TGATGATTTACTGGAGGATTCAGACAGTGAAGAGCATTCCAGATCAGATTCTGTGACAG___GGCATACATCACAGAAGGAAGCCATGGAAGTAAGCCTTGATATAACAGCACTCAGCATTCTCCAACAGCCAGAAAAACTTCAGTGGGAGATTGTTGCAAATGTGCTTGAAGATACTGTTAAGGATCTTGAAGAACTTGGGGCAAATCCTTGTTTAACAAACTCTAAGAGTGAAAAGACAAAGGAAAAGCACCAGGAGCAACACAACATTCCTTTTCCATGTTTATTAGCTGGAGGTTTATTAACATATAAATCTCCTGCTACCTCACCCATTAGTAGTAATTCTCACAGGTCACTGGATGGTTTAAGCAGAACTCAGGGTGAAAGTATATCAGAACAAGGGTCAACTGACAATGAATCCTGCACTAATTCAGAACTAAATTCTCCTCTGGTAAGGAGGACTTTACCGGTTTTGCTTCTTTATAGCATCAAGGAATCTGATGAGAAAGCAGGAAAGATCTTTTCACAGATGAACAATATTATGAGTAAAAGTTTGCATGATGATGGTTTTACTGTTCCACAGATTATTGAAATGGAGCTGGATAGTCAGGAGCAGTTGTTATTGCAGGATCCTCCTGTGACTTACATTCAGCAATTTGCAGATGCAGCAGCCAACCTTACCTCTCCGGATTCTGAGAAGTGGAACTCTGTGTTTCCCAAGCCTGGGACTTTGGTTCAGTGCTTGAGGCTGCCAAAGTTTGCAGAGGAGGAGAATCTTTGTATAGACTCAATAACTCCTTGTGCTGACGGAATTCATTTGTTGGTAGGACTGCGGACATGCCCTGTTGAATCCTTGAGTGCAATAAATCAAGTAGAGGCCTTGAATAATTTAAATAAATTAAACTCTGCACTATGTAATAGACGGAAAGGTGAGCTGGAATCAAATCTTGCTGTAGTGAATGGTGCAAATATTAGTGTAATCCAACATGAATCACCAGCAGATGTACAGACTCCTTTAATAATTCAGCCTGAGCAGAGGAATGTTAGTGGTGGATATTTAGTGCTTTATAAAATGAATTATGCCACTCGGATAGTGACTTTAGAAGAGGAGCCAATAAAAATACAACATATCAAAGATCCCCAGGACACAATTACCTCGCTCATTTTGCTTCCACCCGATATATTGGATAATCGAGAGGATGACTGTGAGGAACCTATTGAGGACATGCAGTTAACCTCAAAGAATGGTTTTGAGAGAGAAAAAACGTCTGACATTTCTACTCTTGGACACCTGGTAATAACCACTCAGGGAGGATATGTAAAAATACTAGATCTTTCAAACTTTGAAATTTTGGCCAAAGTGGAGCCTCCCAAAAAGGAGGGCACTGAGGAACAGGACACATTTGTTTCTGTGATTTACTGTTCTGGCACAGACAGGCTGTGTGCATGCACCAAAG___GTGGTGAGCTTCATTTTCTCCAAATTGGAGGAACCTGTGATGATATTGATGAAGCTGATATACTAGTGGATGGATCTCTTTCTAAAGGAATAGAACCATCTTCAGAAGGTTCCAAACCTTTATCAAATCCTTCAAGTCCTGGCATTTCAG___GAGTTGATTTATTGGTGGACCAGCCATTCACCCTTGAAATCTTGACATCCCTAGTGGAGCTAACCCGCTTTGAGACTTTGACTCCAAGGTTTTCAGCGACTGTTCCTCCATGCTGGGTAGAAGTTCAACAAGAACAGCAGCAAAGGAGGCATCCTCAACATTTGCATCAGCAACACCATGGTGATGCTGCTCAGCATACTCGAACTTGGAAACTACAGACCGACAG___CAACAGCTGGGATGAACATGTATTTGAATTAGTACTACCTAAAGCTTGTATGGTTGGACATGTGGACTTCAAATTCGTTTTGAACTCAAACATCACCAATATTCCACAGATACAAGTGACACTGCTGAAAAATAAAGCTCCAGGATTAGGGAAAGTCAATG___CTCTTAACATTGAAGTGGAACAAAATGGGAAACCGTCCCTGGTTGATTTGAATGAAGAAATGCAGCACATGGATGTAGAGGAATCACAGT___GTCTTAGATTATGTCCATTTTTGGAGGATCATAAAGAAGACATTCTATGTGGGCCAGTATGGCTTGCTAGTGGCCTTGATCTATCAGGGCATGCTGGAATGTTGACGTTAACAAGCCCCAAACTTGTTAAAG___GTATGGCAGGAGGAAAATATCGTTCGTTTTTAATCCATGTCAAGGCAGTGAATGAAAGAGGAACAGAAGAGATTTGTAATGGTGGTATGCGTCCTGTAGTAAGGCTTCCATCCCTAAAACACCAGAGTAACAAGGGTTATTCACTTGCTTCACTTTTGGCTAAAGTTGCAGCAGGCAAG___GAAAAATCATCTAATGTTAAGAATGAAAATACAAGTGGCACCCGTAAATCTGAAAACCTCCGGGGCTGTGATTTACTTCAAGAGGTCTCAGTCACCATTCGAAGATTTAAGAAAACCTCAATTTCTAAGGAAAG___AGTGCAACGATGTGCCATGTTACAGTTTTCAGAATTTCATGAGAAGCTTCTTAATACTCTTTGCAGAAAAACAGATGATGGCCAGATCACAGAACATGCCCAGAGCCTTGTGTTGGATACTCTCTGTTGGTTAGCTGGAGTTCATTCAAATGGACCCGGAAG___CTCAAAGGAAGGAAATGAGAACCTACTTTCAAAAACACGAAAATTTCTGTCAGACATCGTACGTGTTTGCTTCTTTGAGGCAGGACGAAGTATAGCCCATAAGTGTGCCCGATTTCTAGCCTTGTGCATTAG___TAATGGCAAATGTGACCCATGTCAACCAGCATTTGGACCTGTTCTGTTGAAGGCTTTACTTGATAATATGTCATTTTTACCTGCAGCAACAACTGGTG___GTTCTGTCTATTGGTATTTTGTCTTACTGAATTATGTGAAAGATGAAGATCTGGCTGGATGCAGTACAGCTTGTGCATCTTTGCTTACTGCAGTGTCCAGACAGTTACAGGACAGGCTAACACCAATGGAGGCTTTACTTCAGACAAG___ATATGGATTATATAGCTCACCATTTGATCCAGTCCTCTTTGATTTGGAGATGAGTGGCTCTTCTTGTAAAAATGTTTATAACAGCAGCATTGGTGTCCAGTCAGATGAAATTGATTTATCAGATGTCCTTTCAG___GAAATGGAAAGGTCAGTAGTTGCACAGCTGCTGAGGGTAGTTTCACATCTCTCACTGGACTTTTGGAAGTTGAACCTCTGCACTTTACTTGTGTGTCAACTAGTGATGGAACCAGAATAGAAAGGGATGATGCAA___TGAGTTCCTTCGGGGTTACTCCTGCAGTAGGTGGACTATCATCTGGGACAGTTGGGGAAGCCTCGACAGCCCTGAGTTCAGCAGCCCAGGTAGCTTTGCAGTCTCTCTCTCATGCAATGGCTTCAGCCGAGCAACAGCTACAGGTGCTGCAAGAGAAACAGCAGCAGCTTTTGAAGCTTCAGCAACAG___AAAGCAAAGCTGGAAGCCAAGTTACATCAGACAACAGCTGCAGCAGCTGCAGCAGCATCAGCAGTAGGTCCTGTTCACAACTCTGTGCCTTCCAACCCAGTGGCTGCCCCTGGATTCTTCATTCATCCATCTGATGTTATTCCACCCACTCCAAAAACAACACCTCTTTTTATGACTCCACCACTCACTCCACCCAATGAAGCAGTTTCCGTTGTGATTAATGCCGAACTTGCACAGCTTTTCCCAGGCTCAGTCATTGATCCCCCAGCAGTCAATCTTGCTGCACATAACAAAAATTCCAACAAGTCCAGAATG___AATCCACTTGGTTCTGGTCTAGCCCTTGCAATTTCTCATGCTTCACATTTTCTTCAACCTCCGCCTCACCAGTCCATTATTATAGAGCGAATGCATTCAG___GAGCAAGAAGATTTGTGACCTTGGATTTTGGGAGGCCTATATTGTTGACTGATGTATTGATTCCCACTTGTGGAGACTTGGCCTCTTTGTCAATTGACATTTGGACATTAGGAGAAGAGGTGGATGGAAGGCGGTTGGTAGTGGCAACTGATATAAGCACTCATTCACTAATTCTTCATGACTTAATACCACCTCCCGTGTGCAGATTCATGAAG___ATCACTGTTATTGGACGTTACGGGAGTACAAATGCCAGAGCCAAAATCCCATTAGGATTTTACTATGGTCATACCTACATCTTGCCTTGGGAAAGTGAACTGAAGTTAATGCATGATCCTCTAAAGGGAGAGGGAGAATCTGCAAACCAGCCAGAAATTGACCAGCATTTAGCAATGATGGTTGCTTTGCAGGAGGATATACAGTGCAG___GTATAACTTGGCTTGTCATCGTCTGGAAACCCTTTTGCAAAGTATTGATCTTCCTCCTCTAAACAGTGCTAACAATGCACAGTACTTTTTACGAAAACCAGATAAGGCAGTTGAGGAAGACAGTAGGGTTTTTTCTGCTTATCAAGATTGTATTCAGCTACAGCTTCAACTAAATTTGGCTCATAATGCAGTGCAGAGGCTCAAAGTGGCGCTAGGTGCAAGCCGGAAGATGTTGAGTGAAACATCAAATCCAGAAGATTTAATTCAGACATCTTCCACAGAGCAGTTACGTACTATCATCAGATATTTACTGGACACTTTGCTCAGCCTGCTTCATGCTTCTAATG___GACACTCTGTTCCTGCAGTTTTGCAGAGCACATTTCATGCCCAGGCCTGTGAAGAGCTCTTTAAACACTTGTGCATCAGTGGAACCCCAAAGATACGGTTACATACTGGTCTTCTTCTTGTTCAACTGTGTGGTGGTGAAAGGTGGTGGGGTCAATTTCTTTCTAATGTCCTTCAGGAATTGTACAATTCGGAACAGCTTCTCATCTTTCCACAGGATAG___GGTCTTCATGTTACTTTCCTGCATTGGTCAAAGATCACTTAGTAATAGTGGAGTATTAGAAAGCTTACTTAATCTCTTGGATAATTTATTGTCACCTCTTCAGCCACAGTTACCCATGCATAGGAGGACAGAAG___GAGTACTAGATATTCCCATGATCAGTTGGGTTGTTATGCTGGTGTCCAGGTTGCTGGATTATGTGGCAACTGTTGAAGATGAAGCAGCAGCTGCAAAGAAACCTTTGAATG___GTAATCAGTGGAGTTTTATTAACAATAATCTACACACTCAGAGCTTAAATAGATCTTCTAAAGGCAGCAGTAGCCTTGATAGATTATATTCCAGAAAAATCAGAAAGCAGCTTGTTCATCATAAACAG___CAACTTAACCTACTAAAAGCAAAGCAGAAGGCATTGGTAGAACAGATGGAAAAAGAAAAAATACAAAGTAACAAAGGATCATCATATAAACTCCTGGTAGAACAAGCAAAACTAAAGCAGGCCACTTCAAAG___CACTTTAAGGATTTAATTCGTTTACGTCGGACAGCAGAATGGTCCCGTTCTAATTTAGACACAGAAGTTACAACAGCAAAAGAAAGTCCTGAGATAGAACCACTTCCATTTACTCTGGCCCATGAGCGTTGTATCTCAGTAGTCCAGAAACTTGTTCTGTTTCTTCTCTCCATGGACTTTACATGTCATGCAGATCTCTTATTGTTTGTTTGTAAG___GTTCTTGCACGCATTGCAAATGCCACGAGGCCAACTATTCATCTGTGTGAGATTGTGAACGAACCCCAGCTGGAAAGACTGCTGTTACTTTTGGTTGGAACTGACTTCAATAGAGGAGATATATCTTGGGGTGGTGCTTGGGCTCAGTATTCCTTAACTTGCATGCTACAAGATATTTTAGCAG___GAGAATTACTGGCTCCAGTAGCCGCAGAAGCCATGGAGGAAGGAACAGTGGGTGATGATGTAGGTGCGACAGCTGGTGACTCTGATGACTCCCTTCAACAGTCCTCAGTTCAGTTGCTGGAAACTATAGATGAACCTTTGACACATGACATAACAG___GTGCACCTCCTCTGTCCTCTTTGGAAAAAGATAAAGAAATTGACCTTGAGTTACTTCAGGATCTAATGGAAGTTGACATTGATCCTTTAGATATTGATTTGGAAAAGGACCCTCTTGCAGCCAAGGTTTTTAAG___CCAATAAGCAGTACATGGTATGATTATTGGGGTGCTGATTATGGGACCTACAATTACAACCCTTACATTGGAGGTCTGGGAATTCCTGTAGCAAAGCCACCAGCAAACACGGAGAAGAACGGATCACAGACAGTTAGCGTTTCAGTCTCTCAGG___CCCTGGATGCTCGCCTAGAAGTTGGACTTGAACAGCAAGCAGAACTGATGTTGAAAATGATGTCTACTCTGGAGGCAGATTCCATTTTACAGGCATTAACAAATACATCTCCTACAT___TATCACAGTCTCCCACTGGAACAGATGATTCACTTCTAGGGGGTTTACAAGCAGCAAACCAAACCAGCCAGCTTATTATACAGTTATCATCTGTCCCAATGTTAAATGTTTGTTTCAACAAACTTTTTTCCATGCTTCAAGTCCATCATGTTCAG___TTGGAGTCACTTCTCCAATTGTGGCTCACACTGAGCCTGAATTCTAGTTCAACTGGAAACAAAGAAAATGGAGCAGACATATTTTTATATAATGCTAATAGGATACCTGTTATTTCATTAAATCAAG___CATCAATAACTAGCTTTCTCACAGTGTTAGCTTGGTATCCCAATACTTTGCTCCGGACATGGTGCCTTGTGCTTCATAGCCTAACACTCATGACAAACATGCAGCTTAATT___CTGGTTCCAGCAGTGCCATTGGAACTCAGGAGAGTACTGCTCATTTGTTGGTTTCAGATCCAAACCTAATTCATGTATTAGTGAAATTTCTTTCTGGCACCAGTCCACATGGAACAAATCAACACAGTCCACAG___GTTGGTCCTACAGCTACACAAGCTATGCAAGAATTTCTTACTCGATTACAAGTGCATCTTTCTTCAACATGTCCTCAGATATTCAGTGAATTTTTGCTCAAGCTAATTCATATACTTTCAACTGAAAG___GGGTGCTTTCCAGACAGGCCAAGGACCTCTCGATGCCCAAGTGAAGCTCTTAGAATTCACTCTGGAGCAGAATTTTGAAGTCGTTTCAGTTAGTACTATTTCTGCCGTGATAGAATCGGTTACATTTTTAGTGCACCACTATATCACTTGCTCAGACAAAGTAATGTCAAGAAGTGGATCAGATAGCTCCGTGGGTGCTCGAGCATGCTTTGGGGGACTCTTTGCCAATCTTATTCGTCCGGGTGATGCAAAAGCAGTTTGTGGCGAAATGACAAGAGATCAACTCATGTTTGATTTGTTAAAACTTGTTAACATTTTAGTGCAGCTGCCTCTTTCAGGCAATAGGGAATACAGTGCAAGAGTGTCTGTGACCACAAATACAACAGATAGTGTTTCAGATGAAGAAAAAGTCTCAGGAGGCAAAGATGGCAATGGAAGCAGTACCAGTGTTCAAGGATCGCCTGCATATGTTGCTGACTTAGTCTTAGCCAACCAACAAATTATGAGCCAGATTTTGTCTGCTCTGGGCCTGTGTAATAGCAGTGCCATGGCAATGATAATTG___GAGCAAGTGGATTACATCTCACTAAACATGAAAACTTTCATGGTGGGTTGGATGCCATATCAGTTGGGGATGGATTATTTACCATACTGACAACCCTTAGTAAAAAAGCTTCTACAGTCCACATGATGCTGCAGCCAATTTTAACATACATGGCCTGTGGATATATGGGCAGACAA___GGCTCTCTTGCTACTTGCCAGTTATCTGAGCCATTATTGTGGTTCATTTTGAGAGTATTGGATACTAGTGATGCCTTGAAAGCATTTCATGATATGG___GTGGTGTTCAGCTCATATGCAATAATATGGTTACTAGTACAAGGGCTATTGTGAACACTGCAAGAAGTATGGTATCAACTATTATGAAATTTCTTGACTCTGGTCCAAATAAAGCTGTTGACAGCACATTGAAAACAAGAATACTAGCTTCTGAGCCTGACAATGCTGAAGGGATTCATAACTTTGCACCCCTCG___GTACAATCACATCTAGCAGTCCTACTGCCCAACCAGCTGAAGTGCTATTGCAGGCCACACCTCCTCACAGAAGAGCTCGCTCTGCTGCTTGGTCCTACATCTTTCTTCCAGAGGAGGCTTGGTGTGACCTTACCATTCACCTTCCTGCAGCAGTGCTGCTTAAGGAGATACATATCCAGCCTCATCTTGCATCTCTTGCAA___CCTGCCCTTCCTCAGTGTCTGTTGAAGTAAGTGCAGATGGGGTAAATATGCTACCTTTGTCCACTCCTGTTGTCACAAGTGGCCTCACCTACATAAAAATTCAGCTTGTAAAAGCCGAAGTAGCTTCTGCTGTCTGCCTTAGACTACATCGTCCACGGGATGCCAGCACATTAGGCCTTTCACAAATTAAATTATTGGGGCTCACTGCTTTTGGTACCACCTCTTCTGCAACAGTTAATAATCCATTCCTTCCATCTGAAGATCAGGTATCCAAAACAAG___TATTGGATGGTTACGGTTATTACATCATTGCCTTACTCACATAAGTGATCTAGAAGGAATGATGGCAAGTGCAGCTGCACCTACTGCTAATCTGCTGCAGACTTGTGCGGCCTTATTGATGTCACCTTACTGTGGAATGCATTCACCCAACATCGAGGTTGTGCTTGTAAAGATAGGACTGCAGTCTACTAGAATTGGCCTGAAGCTCATAGACATTCTCCTGAGAAATTGTGCAGCATCAGGCAGTGATCCTACAG___ATTTGAATAGTCCTTTACTTTTTGGAAGACTAAATGGACTCTCTTCTGACTCTACGATAGATATTCTTTACCAGCTTGGAACAACTCAGGATCCTGGTACAAAAGACAG___AATTCAGGCCTTGTTAAAATGGGTTAGTGATTCTGCAAGAGTGGCTGCTATGAAGAGAAGTGGCAGGATGAACTACATGTGTCCTAACTCCTCAACAGTAGAGTATGGTCTTCTGATGCCATCTCCTTCTCATTTGCACTGTGTAGCAGCCATTCTGTGGCATAGTTATGAGCTGCTTGTAGAATATGACTTACCAGCACTCCTGGACCAAGAGCTCTTTGA___GTTACTTTTTAATTGGTCCATGTCTCTTCCCTGCAATATGGTTTTGAAGAAAGCTGTTGACAGTCTACTTTGCTCAATGTGTCACGTACACCCAAACTATTTTTCTTTGCTCATGGGCTGGATGGGAATTACCCCTCCTCCAGTGCAATGTCATCATAGACTGTCCATGACAGATGATAGCAAAAAGCAGGATCTTAGTTCATCTTTAACAGATGACTCTAAAAATGCACAAGCACCTCTCGCATTAACTGAATCACATTTGGCTACCCTTGCTTCCTCTTCTCAATCTCCTGAAGCTATTAAACAATTACTAGACTCAGGTTTGCCTTCTCTTCTTGTGAGGAGTCTGGCTAGTTTCTGCTTTAGCCACATTTCTAGCTCAGAAAGCATTGCCCAGTCAATAGATATTTCCCAGGACAAACTCAGGCGCCATCATGTCCCACAACAATGTAATAAGATGCCTATCACAGCCGACCTAGTTGCTCCTATTCTTAGGTTTTTGACAGAAGTTGGCAATAGCCATATTATGAAAGATTGGCTTGGTGGTTCTGAAGTCAATCCACTATGGACAGCACTTCTGTTTTTATTGTGTCACTCTGGGTCCACTTCTGGAAGCCATAATTTAGGTGCACAACAGACCAGTGCAAGATCAGCTTCTCTTTCTTCAGCTGCTACAACAGGACTGACTACTCAACAGCGCACAGCAATTGAGAATGCAACTGTTGCGTTCTTTCTACAGTGCATTTCATGCCATCCTAATAATCAAAAGCTGATGGCACAG___GTTCTTTGTGAACTATTTCAGACATCTCCTCAAAGAGGGAACCTTCCAACATCTGGGAACATTTCAGGGTTTATACGAAGATTATTTTTACAGTTGATGCTGGAAGATGAGAAAGTGACAATGTTTCTTCAGTCTCCATGTCCA___CTGTACAAAGGTAGAATTAATGCTACTAGCCACGTCATCCAGCATCCAATGTATGGAGCAGGCCACAAATTCCGTACTCTTCATTTGCCAGTCTCAACAACATTATCAGATGTTCTTGACAGAGTGTCAG___ATACTCCAAGTATCACAGCTAAATTAATTAGTGAACAAAAAGATGACAAAGAAAAGAAAAACCATGAAGAGAAAGAAAAAGTTAAAGCGGAAAATGGATTTCAAGACAATTACAGTGTTGTTGTTGCCTCTG___GGCTGAAGTCTCAATCTAAACGTGCTGTGTCAGCTACACCACCTCGCCCACCATCCAGGAGGGGGAGGACAATACCTGATAAAATAGGAAGTACTTCAGGAGCAGAGGCTGCCAACAAAATAATTACTGTCCCAGTGTTTCACCTGTTTCACAAACTCTTGGCAG___GCCAGCCATTGCCAGCTGAAATGACACTTGCCCAGCTTTTAACTCTCCTATATGACCGAAAACTTCCTCAGGGTTACCGCTCAATAGATCTGACTGTTAAATTGGGATCAAGAGTTATAACAGACCCCAGTCTATCAAAAACAGATTCTTATAAAAGACTACACCCTGAAAAAG___ATCATGGAGACTTACTTGCTAGCTGTCCAGAAGATGAGGCTCTCACTCCAGGTGATGAATGCATGGATGGGATACTGGATGAATCTTTGCTTGAAACCTGTCCAATTCAGTCACCATTACAAGTTTTTGCAGGAATGGGTGGACTGGCTCTTATTGCTGAAAGACTACCCATGCTATATCCAGAAGTAATTCAACAG___GTGAGTGCTCCAGTTGTAACATCTACCACTCAGGAAAAGCCGAAGGATAGCGATCAGTTTGAATGGGTGACCATTGAACAGTCAGGGGAGTTAGTTTATGAAGCACCAGAAACTGTTGCGGCTGAACCTCCACCTATCAAGTCAGCAGTACAGACCATGTCTCCCATACCTGCCCATTCTTTGGCTGCTTTTGGATTATTTCTTCGTCTTCCGGGCTATGCGGAAGTGCTACTGAAAGAGAGAAAACATGCCCAGTGCCTTCTTCGATTGGTATTGGGAGTGACAGATGATGGAGAAGGAA___GTCATATTCTTCAATCTCCATCAGCCAATGTGCTTCCAACCCTTCCTTTCCACGTCCTTCGTAGCTTGTTTAGCACTACACCTTTGACAACTGATGATGGTGTACTTCTAAGGCGGATGGCATTGGAAATTGGAGCCTTACACCTCATTCTTGTCTGTCTCTCTGCTTTGAGCCACCATTCCCCACGAGTTCCAAACTCTAGCGTGAATCAAACTGAG___CCACAGGTGTCAAGCTCTCATAACCCTACATCAACAGAAGAACAACAGTTATATTGGGCCAAAGGGACTGGCTTTGGAACAGGCTCTACAGCTTCTGGGTGGGATGTGGAACAAGCCTTAACTA)AGCAAAGGCTGGAAGAGGAACATGTTACCTGCCTTCTGCAG___GTTCTTGCCAGTTACATAAATCCCGTCAGTAGTGCGGTAAATGGAGAAGCTCAGTCATCTCATGAGACTAGAGGGCAGAACAGTAATGCCCTTCCTTCTGTACTTCTCGAGCTTCTCAGTCAGTCCTGCCTCATCCCAGCCATGTCATCTTATCTACGAAATGATTCAG|GTTTTAATTTAGGTATGTACCCATGAACCATCACCACAATCAAGACGGTGAACACATCCATCACTCCTCAAAGTTTCCTTGTTCCTCTTTATAATCCGGCCCTCTTGCCATCCCCATCCTCTACACTCCAAGCAACCACTGATCTGCTGTCACTATTGATGAGTTTGCATTTTCTAGATTTATATAATGGAATCATACAGTATATACTTTTTTTCTGGCTTCTTTCAC MVTGGGAAPPGTVTEPLPSVIVLSAGRKMAAAAAAASGPGCSSAAGAGAAGVSEWLVLRDGCMHCDADGLHSLSYHPALNAILAVTSRGTIKVIDGTSGATLQASALSAKPGGQVKCQYISAVDKVIFVDDYAVGCRKDLNGILLLDTALQTPVSKQDDVVQLELPVTEAQQLLSACLEKVDISSTEGYDLFITQLKDGLKNTSHETAANHKVAKWATVTFHLPHHVLKSIASAIVNELKKINQNVAALPVASSVMDRLSYLLPSARPELGVGPGRSVDRSLMYSEANRRETFTSWPHVGYRWAQPDPMAQAGFYHQPASSGDDRAMCFTCSVCLVCWEPTDEPWSEHERHSPNCPFVKGEHTQNVPLSVTLATSPAQFPCTDGTDRISCFGSGSCPHFLAAATKRGKICIWDVSKLMKVHLKFEINAYDPAIVQQLILSGDPSSGVDSRRPTLAWLEDSSSCSDIPKLEGDSDDLLEDSDSEEHSRSDSVTGHTSQKEAMEVSLDITALSILQQPEKLQWEIVANVLEDTVKDLEELGANPCLTNSKSEKTKEKHQEQHNIPFPCLLAGGLLTYKSPATSPISSNSHRSLDGLSRTQGESISEQGSTDNESCTNSELNSPLVRRTLPVLLLYSIKESDEKAGKIFSQMNNIMSKSLHDDGFTVPQIIEMELDSQEQLLLQDPPVTYIQQFADAAANLTSPDSEKWNSVFPKPGTLVQCLRLPKFAEEENLCIDSITPCADGIHLLVGLRTCPVESLSAINQVEALNNLNKLNSALCNRRKGELESNLAVVNGANISVIQHESPADVQTPLIIQPEQRNVSGGYLVLYKMNYATRIVTLEEEPIKIQHIKDPQDTITSLILLPPDILDNREDDCEEPIEDMQLTSKNGFEREKTSDISTLGHLVITTQGGYVKILDLSNFEILAKVEPPKKEGTEEQDTFVSVIYCSGTDRLCACTKGGELHFLQIGGTCDDIDEADILVDGSLSKGIEPSSEGSKPLSNPSSPGISGVDLLVDQPFTLEILTSLVELTRFETLTPRFSATVPPCWVEVQQEQQQRRHPQHLHQQHHGDAAQHTRTWKLQTDSNSWDEHVFELVLPKACMVGHVDFKFVLNSNITNIPQIQVTLLKNKAPGLGKVNALNIEVEQNGKPSLVDLNEEMQHMDVEESQCLRLCPFLEDHKEDILCGPVWLASGLDLSGHAGMLTLTSPKLVKGMAGGKYRSFLIHVKAVNERGTEEICNGGMRPVVRLPSLKHQSNKGYSLASLLAKVAAGKEKSSNVKNENTSGTRKSENLRGCDLLQEVSVTIRRFKKTSISKERVQRCAMLQFSEFHEKLLNTLCRKTDDGQITEHAQSLVLDTLCWLAGVHSNGPGSSKEGNENLLSKTRKFLSDIVRVCFFEAGRSIAHKCARFLALCISNGKCDPCQPAFGPVLLKALLDNMSFLPAATTGGSVYWYFVLLNYVKDEDLAGCSTACASLLTAVSRQLQDRLTPMEALLQTRYGLYSSPFDPVLFDLEMSGSSCKNVYNSSIGVQSDEIDLSDVLSGNGKVSSCTAAEGSFTSLTGLLEVEPLHFTCVSTSDGTRIERDDAMSSFGVTPAVGGLSSGTVGEASTALSSAAQVALQSLSHAMASAEQQLQVLQEKQQQLLKLQQQKAKLEAKLHQTTAAAAAAASAVGPVHNSVPSNPVAAPGFFIHPSDVIPPTPKTTPLFMTPPLTPPNEAVSVVINAELAQLFPGSVIDPPAVNLAAHNKNSNKSRMNPLGSGLALAISHASHFLQPPPHQSIIIERMHSGARRFVTLDFGRPILLTDVLIPTCGDLASLSIDIWTLGEEVDGRRLVVATDISTHSLILHDLIPPPVCRFMKITVIGRYGSTNARAKIPLGFYYGHTYILPWESELKLMHDPLKGEGESANQPEIDQHLAMMVALQEDIQCRYNLACHRLETLLQSIDLPPLNSANNAQYFLRKPDKAVEEDSRVFSAYQDCIQLQLQLNLAHNAVQRLKVALGASRKMLSETSNPEDLIQTSSTEQLRTIIRYLLDTLLSLLHASNGHSVPAVLQSTFHAQACEELFKHLCISGTPKIRLHTGLLLVQLCGGERWWGQFLSNVLQELYNSEQLLIFPQDRVFMLLSCIGQRSLSNSGVLESLLNLLDNLLSPLQPQLPMHRRTEGVLDIPMISWVVMLVSRLLDYVATVEDEAAAAKKPLNGNQWSFINNNLHTQSLNRSSKGSSSLDRLYSRKIRKQLVHHKQQLNLLKAKQKALVEQMEKEKIQSNKGSSYKLLVEQAKLKQATSKHFKDLIRLRRTAEWSRSNLDTEVTTAKESPEIEPLPFTLAHERCISVVQKLVLFLLSMDFTCHADLLLFVCKVLARIANATRPTIHLCEIVNEPQLERLLLLLVGTDFNRGDISWGGAWAQYSLTCMLQDILAGELLAPVAAEAMEEGTVGDDVGATAGDSDDSLQQSSVQLLETIDEPLTHDITGAPPLSSLEKDKEIDLELLQDLMEVDIDPLDIDLEKDPLAAKVFKPISSTWYDYWGADYGTYNYNPYIGGLGIPVAKPPANTEKNGSQTVSVSVSQALDARLEVGLEQQAELMLKMMSTLEADSILQALTNTSPTLSQSPTGTDDSLLGGLQAANQTSQLIIQLSSVPMLNVCFNKLFSMLQVHHVQLESLLQLWLTLSLNSSSTGNKENGADIFLYNANRIPVISLNQASITSFLTVLAWYPNTLLRTWCLVLHSLTLMTNMQLNSGSSSAIGTQESTAHLLVSDPNLIHVLVKFLSGTSPHGTNQHSPQVGPTATQAMQEFLTRLQVHLSSTCPQIFSEFLLKLIHILSTERGAFQTGQGPLDAQVKLLEFTLEQNFEVVSVSTISAVIESVTFLVHHYITCSDKVMSRSGSDSSVGARACFGGLFANLIRPGDAKAVCGEMTRDQLMFDLLKLVNILVQLPLSGNREYSARVSVTTNTTDSVSDEEKVSGGKDGNGSSTSVQGSPAYVADLVLANQQIMSQILSALGLCNSSAMAMIIGASGLHLTKHENFHGGLDAISVGDGLFTILTTLSKKASTVHMMLQPILTYMACGYMGRQGSLATCQLSEPLLWFILRVLDTSDALKAFHDMGGVQLICNNMVTSTRAIVNTARSMVSTIMKFLDSGPNKAVDSTLKTRILASEPDNAEGIHNFAPLGTITSSSPTAQPAEVLLQATPPHRRARSAAWSYIFLPEEAWCDLTIHLPAAVLLKEIHIQPHLASLATCPSSVSVEVSADGVNMLPLSTPVVTSGLTYIKIQLVKAEVASAVCLRLHRPRDASTLGLSQIKLLGLTAFGTTSSATVNNPFLPSEDQVSKTSIGWLRLLHHCLTHISDLEGMMASAAAPTANLLQTCAALLMSPYCGMHSPNIEVVLVKIGLQSTRIGLKLIDILLRNCAASGSDPTDLNSPLLFGRLNGLSSDSTIDILYQLGTTQDPGTKDRIQALLKWVSDSARVAAMKRSGRMNYMCPNSSTVEYGLLMPSPSHLHCVAAILWHSYELLVEYDLPALLDQELFELLFNWSMSLPCNMVLKKAVDSLLCSMCHVHPNYFSLLMGWMGITPPPVQCHHRLSMTDDSKKQDLSSSLTDDSKNAQAPLALTESHLATLASSSQSPEAIKQLLDSGLPSLLVRSLASFCFSHISSSESIAQSIDISQDKLRRHHVPQQCNKMPITADLVAPILRFLTEVGNSHIMKDWLGGSEVNPLWTALLFLLCHSGSTSGSHNLGAQQTSARSASLSSAATTGLTTQQRTAIENATVAFFLQCISCHPNNQKLMAQVLCELFQTSPQRGNLPTSGNISGFIRRLFLQLMLEDEKVTMFLQSPCPLYKGRINATSHVIQHPMYGAGHKFRTLHLPVSTTLSDVLDRVSDTPSITAKLISEQKDDKEKKNHEEKEKVKAENGFQDNYSVVVASGLKSQSKRAVSATPPRPPSRRGRTIPDKIGSTSGAEAANKIITVPVFHLFHKLLAGQPLPAEMTLAQLLTLLYDRKLPQGYRSIDLTVKLGSRVITDPSLSKTDSYKRLHPEKDHGDLLASCPEDEALTPGDECMDGILDESLLETCPIQSPLQVFAGMGGLALIAERLPMLYPEVIQQVSAPVVTSTTQEKPKDSDQFEWVTIEQSGELVYEAPETVAAEPPPIKSAVQTMSPIPAHSLAAFGLFLRLPGYAEVLLKERKHAQCLLRLVLGVTDDGEGSHILQSPSANVLPTLPFHVLRSLFSTTPLTTDDGVLLRRMALEIGALHLILVCLSALSHHSPRVPNSSVNQTEPQVSSSHNPTSTEEQQLYWAKGTGFGTGSTASGWDVEQALTKQRLEEEHVTCLLQVLASYINPVSSAVNGEAQSSHETRGQNSNALPSVLLELLSQSCLIPAMSSYLRNDS|gfnlgmyp* 03BR006 ENSG00000155313.15 ENSG00000256115.6(26012),ENSG00000256417.1(20275) +/+ ./+ chr21:15766141 chr12:5270205 CDS/splice-site intergenic translocation 8 4 0 38 36 high out-of-frame . . . . ENSG00000155313.15 . ENST00000400183.6 . downstream upstream . ^(AAGCAGCCCGCGGACCGGCAGCAAAGGAACGTGCGAACGCGTGACGCCGCCCGACTGGCTCGCGCTCTCCCGTGCCCCGGCGTCCTCCGCCCGCTCATGGCCCGGGCCGCCGCGGACGAGCGGCGCTGAGGCGGGCCGCGTGGAGACGTGAGGCGGCCGCCGTGGCCCTCACAGTCGGCGTTTCGCCGCCTGCCCGCGGTGCCCGCGCACGCCGGCCGCCATCGCCTTCGCGCCTGGCTGGCGGGGGCGCTGTCCTCCCAGGCCGTCCGCGCCGCTCCCTGGAGCTCGGCGGAGCGCGGCAGCCAGGGCCGGCGGAGGCGCGAGGAGCCGGGCGCCACCGCCGCCGCCGCCGCCGCCGCCGCGGGGGCCATGACCGTGGAGCAGAACGTGCTGCAGCAGAGCGCGGCGCAG)AAG___CACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAG___GATAGTAATGGAAACTTGGAATTAGCAGTGGCTTTCCTTACTGCGAAGAATGCTAAGACCCCTCAGCAGGAGGAGACAACTTACTACCAAACAGCACTTCCTGGCAATGATAGATACATCAGTGTGGGAAGCCAAGCAGATACAA|GGTAATCATCAAGAATCAAATGGCTTGGATCTGGTCTCTTCTCTTTGAGGAAGCAAGCAG___GCATGGAGGTGAGTCAGGCCATTGGAAGATTTCCTGTGGCTGATGAAGAATCCAACTCCAGGTTGCTCTTCTTTGAAGAGGATTCCAGAAATGCTTAG___GGGCTGCTTGTTTGGACTGgAGGAGCTTAGCTGAGCACCAAGCACCAGCAGG MTVEQNVLQQSAAQKHQQTFLNQLREITGINDTQILQQALKDSNGNLELAVAFLTAKNAKTPQQEETTYYQTALPGNDRYISVGSQADT|r* 03BR006 ENSG00000215386.13 ENSG00000155307.19 +/+ -/+ chr21:16487538 chr21:14612536 exon/splice-site intron duplication/5'-5' 7 1 0 697 10 high . . . . . ENSG00000215386.13 ENSG00000155307.19 ENST00000653129.1 . downstream upstream . ^(GACAGAGGAGAAATATTTATAAGGTTTAGCTCCAGTATCACAGGCAGAGCAATGGAGGATGGATTTGGAGCTGCAAGGCAATAAACTGGTAACTGAACAAA___CATGCAACCTCAAAGAGAAAAGTTTGAGGAAATCACTTCAAGGACAAAAAATTGCAATGTAAAGAGAATTATTTATCTCCAAATTCCAGATTACCCCCCTGCCCAACCCCTGCCAGCAGCACCGTCCACATGGTTTCTCATTTAGTTTTGTGTTAGTTTAACAAAGTAGACTCTGCAATCTGGATAAAATAGTAAGTCACCTCAG___ATGGATCTGAGAACGCTGTCTGGGCTTGGTACCAAGAGCTGGTATTTCACAGCAGCGACCGCCTCACAGACGAGCTGTGGGAAGCAGGAGGGAGACTCTCTCTTAGGGTGCCACTACTATGGAGACACAGCTGGGCTGAACAAGATTTGCTTCAAACGACAACAAGAGAGACAGAAAGTATCTGGTTCAACCGCTGCCCGAGCAGGCAGGCACCAGAAGAGCTAGCAGCCAATCCGGCCATGCTCGAAGCCAGCTCTGCAGCTCAGCCAATCAGTGACATCATTG___CTTTCTTTAGCTTGCCCATGGTGATGTGAAGATGAGAAGAAATAGCAAGGCCCAACCAGTTCTTCATCTGGAGACAGTTCAACGTTCTGCAAACCAG___ATCTTCAGGAATTTTACTGGGATAATTATCCAAATAAATTGCAAGCATTCTATCCAAATG___GAGCTCTTTCTGAGATGAAGAGAATTCTCAATGTCAAGATTTGAACAAGAAGAGAATGGAATACACAATATG___)GACATCCATAAAAATTCATCAGAGAGCATTTTACTACTGAGCTGCAAAG|ATTCACAGATCTAAAATGATCTCTAACAAGTCACCTTGACCACGGAGCAGCCAAGCTACACATGGAGAGCTGGAAGATGAGCAGCCAATGAACTACCAAAG . 03BR006 ENSG00000113657.13 ENSG00000250961.2 -/- +/- chr5:147509478 chr5:57520596 CDS/splice-site intron deletion/5'-5' 1 6 0 8 15 high out-of-frame . . . . ENSG00000113657.13 ENSG00000250961.2 ENST00000343218.10 . upstream downstream . ^(ACTCTGGGCCCCTGCTCCGCGCGCTAGCTGGCTGTGTGGCTCGCTGGCTCGCTAGGGACAAGCAGGAATCGGAGCAGCACTGCCGCCTCTGGCGCGAAGGCTCAGGCGCCTCCTCCCGCCACAGTCACTGTGGCTCGGCGCACGCTGCCGGCGGCTGCCCTTTCCGCCTCTGGGGAAGAAAAACCCGCGGGCCGCTTTCGTGCTTGAACCATGGCCTCGGGCCGGAGGGGCTGGGACAGCTCCCACGAAGACGATCTGCCCGTGTACCTGGCCAGGCCGGGCACCACGGACCAGGTCCCGCGGCAGAAATACGGCGGCATGTTCTGCAACGTGGAGGGCGCCTTCGAGAGCAAGACGCTGGATTTCGATGCCCTCAGCGTGGGGCAGCGGGGCGCGAAGACTCCTCGGAGCGGCCAGGGCAGCGACCGAGGATCGGGGAGTCGGCCCGGGATCGAGGGGGAC)ACCCCGCGCAGGGGCCAAGGCCGGGAAGAGAGCAGGGAGCCCGCGCCCGCCTCCCCCGCCCCCGCCGGGGTAGAGATCCGGAGCGCCACCGGCAAAGAGGTGTTGCAGAACCTCGGCCCCAAGGACAAG|AATCAAAGCTGTAAAACTACAAATCGTTCTTCAAATGGAGCCCCTGATGCAGTCCATGACCAAGATCTACTGTGGACCCCTGGACCGGCCTGCTAGCCCATGCTCTGATGTTAATGACATCAAAGGCATGCCTCCCAAGGAAATCTCAACTGCACAACCCCTACTACACTCCAATTCAGCAGGAAGCAGTTAGAGCGGTCATCGGCCAACCTCCC MASGRRGWDSSHEDDLPVYLARPGTTDQVPRQKYGGMFCNVEGAFESKTLDFDALSVGQRGAKTPRSGQGSDRGSGSRPGIEGDTPRRGQGREESREPAPASPAPAGVEIRSATGKEVLQNLGPKDK|nqsckttnrssngapdavhdqdllwtpgpac* 03BR006 ENSG00000143493.13 ENSG00000065600.12 -/- -/- chr1:212016886 chr1:212365376 CDS/splice-site CDS/splice-site duplication 3 2 0 19 106 high out-of-frame . . . . ENSG00000143493.13 ENSG00000065600.12 ENST00000366994.8 ENST00000261455.8 upstream downstream duplicates(1) ^(GTAACAGGGCTTGACAGCGCGCGGAAGAAAAACCAGCAAGAAGGCGGCGGGGGAAGATGGCGGTCCTGGGGTAGAGTTTGCAAGCTTTCTGACTAGGCTAGTCGAGTAACTATTCGGGTCATGGCGTCAAACTCAACTAAGTCTTTCCTGGCAGATGCCGGCTATGGCGAACAGGAACTGGATGCCAACTCTGCCCTTATGGAATTGGACAAAG___GCCTAAGATCTGGCAAACTTGGTGAACAGTGTGAAGCAGTTGTTCGCTTTCCCAGACTTTTTCAGAAGTATCCATTCCCTATTCTTATCAATTCTGCATTCCTAAAGTTAGCTGATGTTTTCAGAGTTGG___AAATAATTTCCTGAGGCTATGTGTTCTTAAAGTTACCCAACAAAGTGAGAAACATTTGGAGAAGATTCTAAATGTGGATGAATTTGTGAAGAGAATTTTTTCTGTGATTCATAGTAATGATCCTGTGGCAAGAGCCATCACCCTCCG___GATGT)TGGGAAGTCTGGCATCAATAATTCCTGAGAGGAAGAATGCTCATCATAGTATTCGTCAGAGTTTAGATTCACATGATAATGTAGAAGTTGAAGCTGCTGTTTTTGCTGCTGCAAACTTCTCTGCACAGTCAAA|ATAGTCACTGCCAATCCTTGGAACACAATTGCTCTTCTCTGTGGCGCCTTCTTGGCATTATTTAAAGCAGCAGAGTTTGCCAAACTGAGTATAAAATGGATGATCAAAATTAGAAAGAGATACCTTAAAAGAAGAGGTCAGGCAACGAGCCACATAAGCTGAAGTCACCTCGCGTTGTTTAGAGAACTGTCCACATCAATGGGAGCTGTCATCACTTCCACTTTGTAAACGGAGCTATCAACAATCCTGTACTCACTTGAAGAAATGGGG(CCTTGCTGGGAGGAACAGCATGTAAAACTGGAACTTCTAACCCCGTCCCAAAAGAGGCGGTGTAGAGCCTAATAGAAGAGACTAATGGATAAACCTACAAGTTATTTAAATATTTAAATTATTAATAAACTTTTTAAAGAGCTGGCCAATGACTTTTGAATAGGGTTTGTAGAAGATGCCTTTCTTCCTGTTTGGTTCATTGTATTGTATTAGGTTAAGCTCTACTAGGGTAATGAAGGCTCTACTTTTCACTTTTTAAAAGTGGACAAAAGAGTGTGATTTTCTTTTTCCAAAAATTCCTGAGTATCAAGACGTGCAGGTCATGCTTTGGAGCCTATGCACTGTACACAAAGGCAAAACCCTATGACTTTGGCATCATCTGCCATTGATGTCCAGCCTCTGACATGCTCTTTGATTTGTTAAATGTTAAATGAGACTTTAAGGCTACTAGAAACTAGTAATTAAGTTTCTTAATGGACTGAGTAGCCACCTACTTGTCCGGCTAGAATGTTTGTTGATGTATGAGTTTAGATTAACACTCAAAAGCACTAGGACAGATGTACATAGAAGGTGCCTACTCATTGTATTTTGATGATTTCATTAACAGGTAAATAAAAGTTAATACAAAAGGAACGAGTGTGACAATATGAATATCTGCTCAATCATCGGGCACAATTACTTTCATTTGGTGACTTCCAAGGACAAAAAGGTAGTATGAGTCTGGACTCCCAAGATGGATCTGACTCCCAAGGTATGTTCTAACTGCTTCCAGGGAAGGGTTTGTTAGGCATGGCAACTGATGGCAGGTGTCCAGAAAGAGTGACCTGGTGTCCCCGAGGAAGCTGGGTTAACTCTTTACTGTGTCCACAAAACTACCCATCATATGAGGAAGGGGCATACGCAGTGTGACCCTCAAAAAGCTTTTAGCCTAGCCTTTGACAGAAATGAGTATGCATTAAAAAAAAGTCTATTTTTCACATTAAGGTTCTAAAAATTGTTTCCAGAGTTTTAAATTATTTATGTGCCTGTTGCTTCAAAGAGGACTTGGTAGCATTTCCTAAATTTTGTAATCTGGCTTCCGATAATCCAAAGGGAATAACTCAAATGTATGAATAGGCATTTTAAATGGGAAGAAACTGTTTTTTGGATGAATGATTAAAAGTGAACTGTATAAAG)$ MASNSTKSFLADAGYGEQELDANSALMELDKGLRSGKLGEQCEAVVRFPRLFQKYPFPILINSAFLKLADVFRVGNNFLRLCVLKVTQQSEKHLEKILNVDEFVKRIFSVIHSNDPVARAITLRMLGSLASIIPERKNAHHSIRQSLDSHDNVEVEAAVFAAANFSAQSk|* 03BR006 ENSG00000145041.15 ENSG00000145041.15(40556),ENSG00000164080.13(1022) -/- ./- chr3:51470929 chr3:51540558 CDS/splice-site intergenic duplication 3 2 0 13 4 high out-of-frame . . . . ENSG00000145041.15 . ENST00000504652.5 . upstream downstream duplicates(1) ^(CGCTGTGGAGCCGTGGTCGCGCTGTGTGTGTGTGTGAGTGGAGAGTGAGTGCGGGACCTGAGGCTGTGTGTGTGTGAACTGTGGCCACTGGCGGGGTCGGGGGGGGGCAGCGGCGGAGCCGCCTCGGACG___GCAAAGCCATGACTACAGTAGTGGTACATGTGGACTCCAAAGCTGAGCTCACTACCCTGCTGG)AGCAGTGGGAAAAGGAACATGGCAGTGGGCAGGACATGGTACCTATCCTTACCAG___GATGTCTCAATTGATTGAAAAAGAAACTGAAGAGTATCGTAAAGGGGATCCAGACCCATTTGATGATCGACATCCTG|GGTTCCCTTTAAACCTCACCTACAGACAACACACCAACTTTTGCCTGAATAATACATACAGAGCTCCGGCCCACAGCTGCAGGCCTCAGAGTTGGAGTTTGCGTACTGTCTTTCAATGATATAGATTGTCACAGGGAGACAGTGTACAGGCCAAATTCATTGAAGATGG MTTVVVHVDSKAELTTLLEQWEKEHGSGQDMVPILTRMSQLIEKETEEYRKGDPDPFDDRHP|gfplnltyrqhtnfclnntyrapahscrpqswslrtvfq* 03BR006 ENSG00000058091.17 ENSG00000157224.16 +/+ +/+ chr7:90790652 chr7:90405519 CDS/splice-site 5'UTR/splice-site duplication 2 2 0 14 4 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000058091.17 ENSG00000157224.16 ENST00000380050.8 ENST00000287916.8 downstream upstream . ^(ACAAAGGAGGGAAAATGAGCCGGGCGGCGGCGGCGCGGCGCGGGGCCACCACGGCGGCGGCGAGCGCGGCCGCCCCCGGCACCACGTAAACCGCCCCCGCCCGCCCAGCTGCGGCCCAGGCCGGAGCGGAGCCTGCCGTCCTCCGCCTGCCTGCTGCTCGCCTCCCTAGACCTGCGCGTCGCTTCCCGGCCCGCCGAGGAGGTGGTGGAGGAGGAGGCGCCGCTTTCCCCGCGGCGCGCGCCCTCGCCGTTGTCTGAGCTGTGCCTGGACCAGTTTGGGGAAGTTGTCGGGGCTCCGCGTCGCCCAGATGTGTGACCTCATTGAGCCGCAGCCGGCCGAGAAGATCGGCAAGATGAAGAAGTTGCGGAGAACTTTGTCGGAGAGTTTCAGTCGCATTG___CTTTGAAGAAAGATGACACCACCTTTGATGAG___ATATGTGTCACAAAGATGTCTACACGGAACTGCCAGGGAATGGACTCAGTGATCAAACCCCTGGACACAATTCCTGAGGATAAAAAAGTCAGAGTTCAGAGGACACAGAGCACTTTTGACCCATTT)GAGAAACCAGCTAATCAAGTAAAGAGGGTGCATTCTGAGAACAATGCTTGCATTAACTTTAAGACCTCCTCCACTGGCAAAGAGTCACCTAAAGTTAGGCGGCACTCCAGCCCCAGCTCG___CCAACAAGTCCCAAATTTGGAAAAGCTGACTCATATGAAAAGCTGGAAAAACTAGGGGAAGGATCTTATGCTACAGTATACAAAGGGAAAAGCAA___GGTAAATGGGAAGTTGGTAGCTCTGAAGGTGATCAGGCTGCAGGAAGAAGAAGGGACACCTTTCACAGCTATCAGGGAAG|GCTCAGATTATTGCTACTCTGTATTCAGATCTTCATGTGTCTCTTCTAAGCTGAATAAAGCTGTTTTGGAACTGTCAGGTACCTCAAAGC MCDLIEPQPAEKIGKMKKLRRTLSESFSRIALKKDDTTFDEICVTKMSTRNCQGMDSVIKPLDTIPEDKKVRVQRTQSTFDPFEKPANQVKRVHSENNACINFKTSSTGKESPKVRRHSSPSSPTSPKFGKADSYEKLEKLGEGSYATVYKGKSKVNGKLVALKVIRLQEEEGTPFTAIRE|gsdycysvfrsscvssklnkavlelsgtsk 03BR006 ENSG00000232886.1(128677),ENSG00000225735.1(208101) ENSG00000250961.2 ./- +/+ chr21:17002368 chr5:57494075 intergenic exon/splice-site translocation 1 3 0 2 21 high . . . . . . ENSG00000250961.2 . ENST00000664944.1 upstream upstream mismatches(1) AATTGGAAAGTTTATGACTTTCAGGTGCAGAAATATTCTTTTCTAGGTGTCATTTCTGTCTATTTCTACCAAGCCTTTTTAATAAGAAATCAAAGAAATGGTCACTTAAGGAAAGAAAAAAGGATACAAATGATGGCTGACCCCCATGATAAAAG|AATGCTGATTGAATTGGCTTCTCACTGcATTTGTCAAGGCTGGAACAGACGATGGCACTGCAGAATCTTATGTGCACAGAAGAAATCTACAGACATTCAATGAGGGGAGGATTTCGTTCCATCAGATGGGCTTCCTGACATAATTGCAAAG___TTAATATCAGCCCATGTGCTCCAAGAAAACCAGAGGAAATATCAAGAAAGAAGAAAACATGAGAC(CCTGAAAATAAAAACCTCAACCCAGAAG___GAGACCATGAAATAATTCCAGTATGTTTGCTTAATTGTTGGGTATTCCTGTGACAAAGAAGGCACTACTCAGCCAGCCAGAATGCACTGACCACCACTGCAGGGTTTCAGTCACATGAGACATCTGGGTGATAGAGGGAAGTGTGGGGAATGGCTATCATTGATGAGCCTGTATGTTCTAAGTGATCTGGGGACTAAGGCTTATTTTTCTCCAGGCTTGTCTTATGAAGAAGTTTTAGTCTATTTGGAATAGATAAGGCTTATACACATAAAGTAACTGATACTCAATTATATGTAATTATGTTAGTTGGGGATAAGGCTAAGCTGTGTTATGTAGTGACTCAAAAATGCGATGACTCAAACAAGATTGGAGCTTGTTTCTCTCCGGGAATGAATGATCCCACACTCGGGGGCAGCTAGGCTGCTGGGATCCAGGTTCCTTCACCTGTTGCTCTGTTATGGTTGAAGCTGGCTTATCCCAACCTCATTCACATTTCAGCCCACACAGCTAGGCAGAAGAGGGGTGAAAGTGGAGCATGAGCAATGCCTTTTCTTTTATTTTTTTTAAAGTCAGTATTATTGCATTATAATTTACAGAAAATAAAATACACCTATTTTAAGTGTATACTTTAATGGGCTTTGGCAGATTGCTTACACGCATTGAACCACCACCCTAATCAAGATAATGGCATTTCCATCATCCCTAAACATTTCCTCATGCCCTTTGCAGTAAATGCCATCTACTCTTGGTCTAAGGTGGCTACTGATTTGATATCTATCACTACAGATTATTTTTGCCTGTTCTAGAATATCACATAAATGGAATTATATGGCAGGTGCTTTCAGGCTGGGTGATATAAGTCAGGTGTCTAAGTTGTAAATTTAAACAGACACTCACACTAAGTTTTATGCCAGTGCTGACTCTACAATGCACCCTGCGCCATGCTGCATTGTATCTTGTTTCTTTTGCCCTGTGTATTGTTTTTGAGATTCATTTATTTTGTTATGTGTATCAGTGGTTCATCATTTTTTGTTGCTGTGTAGTAGTCTATGTCACAAATTCACTACAATTTGTTTATACGTTTGTCTACTGATGGACGTTGTTTCCGGTTTTGGGCTTTTATGAACATAGCTGTCACAAACAGATGTGTACAAGTATTTTAGTGAACATATGTTTTCATTTCTCTTGGGTAAATACTCAGGAATGGAATTGCTGGATCATATGGTAAGCGTGTCTTGGTAACTTCAGGAGACTGCTGAACAATTTTTGAAAGTGAATTTAATACTCGATAGTCTCATTAGCAATGTATGAAAATTCTAGTTGCTTTACAGCCTCACCAACACTAGTTATCATCAACGTGTTTAACTAGCTATTCTAGTAACTATGTTGTGATATCCATTGTAGTTTTTTCCTTTTTTGTCCCCGTACCCTAAGCTCCTATCCATTGTAGTTTTAATTTGCATTGCCCTGATGACTAGTAATGTTAAGCATCATTATATGTGATTATAAGCTATTGTAGTGTTTCGTAAAATATTTGTTAAAATTTTTTGACTATTAGAAAAAGTAGGT)$ . 03BR006 ENSG00000058091.17 ENSG00000273299.1 +/+ +/+ chr7:90790652 chr7:90405519 CDS/splice-site exon/splice-site duplication 2 1 0 14 4 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000058091.17 ENSG00000273299.1 ENST00000380050.8 ENST00000480135.1 downstream upstream . ^(ACAAAGGAGGGAAAATGAGCCGGGCGGCGGCGGCGCGGCGCGGGGCCACCACGGCGGCGGCGAGCGCGGCCGCCCCCGGCACCACGTAAACCGCCCCCGCCCGCCCAGCTGCGGCCCAGGCCGGAGCGGAGCCTGCCGTCCTCCGCCTGCCTGCTGCTCGCCTCCCTAGACCTGCGCGTCGCTTCCCGGCCCGCCGAGGAGGTGGTGGAGGAGGAGGCGCCGCTTTCCCCGCGGCGCGCGCCCTCGCCGTTGTCTGAGCTGTGCCTGGACCAGTTTGGGGAAGTTGTCGGGGCTCCGCGTCGCCCAGATGTGTGACCTCATTGAGCCGCAGCCGGCCGAGAAGATCGGCAAGATGAAGAAGTTGCGGAGAACTTTGTCGGAGAGTTTCAGTCGCATTG___CTTTGAAGAAAGATGACACCACCTTTGATGAG___ATATGTGTCACAAAGATGTCTACACGGAACTGCCAGGGAATGGACTCAGTGATCAAACCCCTGGACACAATTCCTGAGGATAAAAAAGTCAGAGTTCAGAGGACACAGAGCACTTTTGACCCATTT)GAGAAACCAGCTAATCAAGTAAAGAGGGTGCATTCTGAGAACAATGCTTGCATTAACTTTAAGACCTCCTCCACTGGCAAAGAGTCACCTAAAGTTAGGCGGCACTCCAGCCCCAGCTCG___CCAACAAGTCCCAAATTTGGAAAAGCTGACTCATATGAAAAGCTGGAAAAACTAGGGGAAGGATCTTATGCTACAGTATACAAAGGGAAAAGCAA___GGTAAATGGGAAGTTGGTAGCTCTGAAGGTGATCAGGCTGCAGGAAGAAGAAGGGACACCTTTCACAGCTATCAGGGAAG|GCTCAGATTATTGCTACTCTGTATTCAGATCTTCATGTGTCTCTTCTAAGCTGAATAAAGCTGTTTTGGAACTGTCAGGTACCTCAAAGC(GTAA___AATGTGCTGTAAAGAAGAGTTGTCAATTGTGCACAGAAGATAAGAAA___GCTTCCTTCAGGATTTTAATCATCCTTACAGCCTCTTTGAGAATGATTGAACTTCCAAATTCCCTGAAGTTAAAATTTTAAATTCTATTAAACATTTTTTCGAGTATTTCATTA)$ MCDLIEPQPAEKIGKMKKLRRTLSESFSRIALKKDDTTFDEICVTKMSTRNCQGMDSVIKPLDTIPEDKKVRVQRTQSTFDPFEKPANQVKRVHSENNACINFKTSSTGKESPKVRRHSSPSSPTSPKFGKADSYEKLEKLGEGSYATVYKGKSKVNGKLVALKVIRLQEEEGTPFTAIRE|gsdycysvfrsscvssklnkavlelsgtskrkmcckeelsivhrr* 03BR006 ENSG00000129946.10 ENSG00000064687.13 -/- +/- chr19:434709 chr19:1043804 CDS/splice-site CDS duplication/5'-5' 0 2 1 42 33 high out-of-frame . Phosphotyrosine_interaction_domain_(PTB/PID)(100%)| . . ENSG00000129946.10 ENSG00000064687.13 ENST00000264554.10 . upstream downstream . ^(ATGACGCAGGGTCCGGGCGGGCGCGCGCCCCCGGCGCCCCCCGCGCCCCCCGAGCCCGAGGCGCCCACCACCTTCTGCGCGTTGCTGCCCCGAATGCCGCAGTGGAAGTTCGCGGCCCCGGGCGGCTTCCTGGGCCGCGGCCCGGCGGCGGCGCGGGCGGCTGGGGCCTCGGGGGGCGCGGACCCCCAACCCGAGCCGGCGGGCCCGGGGGGCGTCCCGGCGCTGGCGGCCGCCGTCCTGGGCGCCTGCGAGCCCCGCTGCGCCGCGCCCTGTCCCCTGCCCGCGCTCAGCCGCTGTCGGGGCGCGGGGTCGCGGGGGTCGCGGGGCGGGCGGGGGGCGGCGGGGTCCGGGGACGCCGCCGCCGCCGCCGAGTGGATCCGGAAGGGCAGCTTCATCCACAAACCCGCGCACGGCTGGCTACACCCCGACGCCAGGGTCCTGGGGCCCGGGGTCTCCTACGTCGTGCGG___TACATGGGCTGCATCGAGGTTCTCCGCTCTATGCGCTCCCTGGACTTTAACACGCGCACGCAGGTGACCAG___GGAAGCCATCAACCGGCTCCATGAGGCCGTGCCTGGCGTCCGGGGATCCTGGAAGAAAAAG___GCCCCCAACAAGGCCCTGGCGTCCGTCCTGGGCAAGAGCAACCTTCGCTTTGCCGGCATGAGCATCTCCATCCACATCTCCACTGATGGCCTCAGCCTCTCCGTGCCTGCCACGCGCCAG___GTCATCGCCAACCACCACATGCCGTCCATCTCCTTCGCGTCAGGCGGAGACACG___GACATGACGGATTACGTGGCCTACGTCGCCAAGGACCCCATCAACCAGAGAG___CCTGCCACATCCTGGAGTGCTGTGAGGGCCTGGCACAGAGCATCATCAGCACCGTGGGCCAAGCTTTCGAGCTGCGCTTCAAGCAGTACCTGCACAGCCCGCCCAAGGTGGCGCTGCCCCCAGAAAG___GCTGGCAGGGCC)GGAGGAGTCGGCCTGGGGGGACGAGGAGGACTCTTTGGAGCACAATTACTACAACAGCATCCCGGGGAAGGAGCCGCCGCTGGGCGGGCTAGTGGACTCCAGGCTGGCCCTGACACAGCCCTGCGCCCTCACGGCCCTCGACCAG|GTGAAGATCCGGGGTCCCAGCATCTCCCACACCTCCCGGACATCCCTCAGCAGGGTGAGCTCCTCGAAGGTCCGGTTCACCTGTGGACAGCACCCCCTCCACTGATGACCCTCTCCTCCTCTGAGGACCCCTGCCCACCCCCTGCCCCCTCTGCCTTGCTCCTGCGTGTGCCTCTGATCCTCCGCACAAGCTGATCCCCC MTQGPGGRAPPAPPAPPEPEAPTTFCALLPRMPQWKFAAPGGFLGRGPAAARAAGASGGADPQPEPAGPGGVPALAAAVLGACEPRCAAPCPLPALSRCRGAGSRGSRGGRGAAGSGDAAAAAEWIRKGSFIHKPAHGWLHPDARVLGPGVSYVVRYMGCIEVLRSMRSLDFNTRTQVTREAINRLHEAVPGVRGSWKKKAPNKALASVLGKSNLRFAGMSISIHISTDGLSLSVPATRQVIANHHMPSISFASGGDTDMTDYVAYVAKDPINQRACHILECCEGLAQSIISTVGQAFELRFKQYLHSPPKVALPPERLAGPEESAWGDEEDSLEHNYYNSIPGKEPPLGGLVDSRLALTQPCALTALDQ|vkirgpsishtsrtslsrvssskvrftcgqhplh* 03BR006 ENSG00000115355.17 ENSG00000136381.13 -/- +/+ chr2:55332566 chr15:78497126 CDS/splice-site CDS/splice-site translocation 1 1 0 10 29 high out-of-frame . HOOK_protein(100%)|Aconitase_C-terminal_domain(100%) . . ENSG00000115355.17 ENSG00000136381.13 ENST00000263630.13 ENST00000258886.13 upstream upstream . ^(GGGGTGTGATGCGGCACTGCGGTTCTGAGGCCGTTACTCCGGCTTCTCCATAGAGGGCGGAGAAGGCTGGAGCGCGGCGGTGATTTTGTGCCAGGGATTCCCAGAGACGCGCTGAAAGGCTGGCAGGGCTTAGGAAGCTGGGGGGTTAGGGACACACATTCAAGCCCCCACCCCCGGGAGGGGAAGGGGGCTGGAGGCGAGGCTTGAGGGCGGCGGAGGAATGGTGTCTGCTCGGGGGGAAGGGGCGAGCCCTGCCTGTTGGTACTGAGGGGCTGCGGGCAGTGGAGGCTCCGCGGGTCGAAAGCGGCTCCATGCCCATCGGTGGGTGGAACGTGTAGAGGTCGGAACGCCGAGGTCGAGTCTGGTGGCGCCTCGGTATCCTTAACGTGGTCTCTGTTTAACGTATTTCATTTAGCCCCCGTTGGGATTGATTCATTGGGAGCAGTTTCGCTGGTCTGGATCCTCCAGGAGCTGGACAACCTTGACGGGCTTTTTGTCTTGGGTTCCAGCCCCCTTTCCCTTCCTCCTCCTCCAGATGCCTTTTCTCTGCCCCTCCTCGCCCGGTACAGACATTTCCAGCGCAGGCTGCTGCTCGTGGTGTCCGTCGTCGAAGCCACTTCTTGGGATTTCGGCTCGTTTCACTCTGGGGTGTTTTTTGAGGAGGGAGAGTGCCCCCCTCCTCCACGATGGGATTTTTCTCCCTTGCCGAAATGGACTTTCATTGATTTCTACTTACTTCCACGTTTAGTGACCAATTCCCTAGGCGTATTTTTGTGGTAGTTCCTTTTTTCAAATACATACTCTGTAAAATGGAGAACGAAATTTTTACTCCCCTTCTGGAGCAGTTCATGACCAGCCCTTTGGTCACTTGG___GTTAAAACGTTTGGACCTCTGGCCGCAGGAAATGGGACCAACCTTGATGAATATGTGGCTTTGGTGGATGGGGTATTCTTGAACCAGGTCATGCTCCAAAT___TAATCCTAAATTGGAGAGTCAGAGAGTAAATAAAAAAGTCAATAATGATGCCTCACTTAGAATGCACAATCTATCCATTTTGGTGAGACAGATAAAATTTTATTACCAG___GAGACTTTGCAGCAATTGATCATGATGTCGTTGCCAAATGTCTTAATCATTGGCAAAAATCCCTTTTCTG___AACAAGGCACAGAAGAAGTTAAAAAACTGCTTTTACTTTTATTGGGTTGTGCAGTTCAG___TGTCAGAAAAAAGAGGAATTTATTGAAAGAATTCAAGGTTTAGATTTTGATACAAAAGCAGCGGTTGCCGCACATATTCAAGAG___GTAACTCATAATCAGGAAAATGTGTTTGACCTGCAATGGATGGAAGTGACTGATATGTCGCAGGAGGACATAGAACCACTCTTGAAAAATATGGCATTGCATCTAAAAAGACTTATAGATGAGAGAGATGAACATTCAGAG___ACTATCATAGAACTCTCTGAAGAGCGGGATGGTCTCCATTTTCTACCCCATGCCTCTTCATCTGCACAGTCACCCTGTGGTTCTCCAGGCATGAAGCGAACAGAAAGTCGACAACATCTGTCGGTGGAACTGGCAGATGCTAAAGCCAAGATAAGAAGGCTTAGGCAGGAATT___GGAGGAAAAGACTGAGCAGTTGTTGGATTGTAAACAAGAACTTGAGCAAATGGAAATAGAACTCAAAAGGCTGCAACAAGAG___AACATGAATTTGCTTTCGGATGCTCGCTCTGCCAGAATGTACCGAGATGAATTAGATGCACTTCGAGAGAAAGCAGTCAGAGTCGATAAGCTTGAAAGTGAAGTCAGCAGATATAAAGAGAGACTACATGATATTGAATTTTATAAGGCAAGAGTTGAG___GAATTAAAAGAAGACAATCAAGTTTTATTAGAAACAAAAACCATGTTGGAAGACCAACTAGAGGGAACTCGTGCTCGTTCTGATAAATTACATGAATTAGAAAAAGAGAACTTACAACTGAAAGCTAAACTTCATGATATGGAAATG___GAACGAGATATGGATAGAAAAAAGATTGAAGAATTAATGGAAGAAAATATGACTTTGGAAATGGCACAGAAACAAAGTATGGATGAATCATTACATCTTGGCTGGGAACTGGAACAGATATCCAGAACTAGTGAACTTTCCGAAG___CACCCCAGAAATCCCTGGGCCATGAGGTGAATGAGTTGACATCAAGTAGATTATTGAAGCTAGAGATGGAAAATCAAAGTTTGACAAAAACCGTAGAAGAGCTTCGGACTACTGTGGATTCTGTAGAAGGCAATGCTTCCAAAATCCTGAAAATGGAAAAAGAAAATCAAAGGCTCAGTAAAAAG___GTTGAGATTCTTGAAAATGAGATTGTTCAAGAAAAGCAAAGTCTTCAGAATTGTCAGAATTTAAGCAAGGATCTAATGAAGGAGAAAGCTCAGCTTGAAAAAACAATAGAAACACTGAGAGAAAATTCAGAGAGACAG___ATTAAGATACTGGAACAGGAAAATGAACATCTGAATCAAACAGTGTCTTCCTTAAGGCAGCGGTCCCAGATAAGTGCAGAAGCAAGAGTGAAAGACATTGAAAAAGAAAACAAAATTCTTCATGAATCTATCAAAGAAACAAGTAGCAAGCTAAGCAAGATTGAATTTGAAAAAAGACAAATTAAAAAAGAATTGGAACATTATAAAGAAAAAGGAGAACGAGCTGAAGAACTTGAAAATGAATTGCATCATCTTGAAAAAGAAAATGAATTATTACAGAAAAAAATAACTAATTTAAAAATTACTTGTGAAAAAATTGAGGCCTTAGAACAAGAAAATTCAGAGCTAGAAAGAGAAAATAGAAAATTAAAAAAAACATTGGATAGCTTTAAAAATCTGACCTTTCAGTTAGAATCCCTAGAAAAAGAGAATTCCCAACTTGATGAGGAAAACTTAGAACTGCGAAGGAATGTAGAATCTTTGAAGTGTGCAAGCATGAAAATGGCTCAGCTACAGCTAGAAAACAAAGAACTGGAAAGTGAAAAAGAGCAACTTAAGAAGGGTTTGGAGCTCCTGAAAGCATCTTTCAAGAAAACAGAACGCTTAGAAGTTAGCTACCAGGGTTTAGATATAGAAAATCAAAGACTGCAAAAAACTTTAGAGAACAGCAATAAAAAAATCCAGCAATTAGAGAGTGAACTACAAGACTTAGAGATGGAAAATCAAACATTGCAGAAAAACCTAGAAGAACTAAAAATATCTAGCAAAAGACTAGAACAGCTGGAAAAAGAAAATAAATCATTAGAGCAAGAGACTTCTCAACTGGAAAAGGATAAGAAACAATTGGAGAAGGAAAATAAGAGACTCCGACAACAAGCAGAAATTAAAGATACCACATTAGAAGAAAATAATGTGAAGATTGGAAATTTGGAAAAAGAAAACAAAACCCTATCCAAAGAAATTGGTATATATAAAGAATCTTGTGTCCGTCTGAAAGAACTAGAAAAAGAAAATAAGGAGCTTGTGAAAAGAGCAACTATTGATATAAAAACGTTGGTTAC)ACTACGTGAG___GATTTGGTGAGTGAAAAGTTGAAGACCCAACAGATGAACAATGATCTCGAAAAATTAACTCATGAGCTTGAGAAGATAGGGTTAAATAAGGAGCGACTCTTACATGATGAACAAAGTACTGATGACAG|GGTGTGAAAGCTGTTTTGGCCGAAAGTTATGAAAAAATACACAAAGATCATTTGATTGGAATTGGCATAGCTCCACTTCAGTTCCTTCCAGGAGAAAATGCAGATTCCTTGG(GCCTCTCCGGTAGAGAAACATTTTCTTTAACATTTCCTGAAGAACTGTCTCCTGGAATTACATTGAATATACAG___ACAAGCACTGGAAAAGTATTCAGCGTGATTGCTTCGTTTGAAGATGATGTGGAAATAACATTATACAAACATGGAGGATTATTAAACTTTGTGGCACGAAAATTCTCATAGTATCTACTTACCATAGATACCTTTCATAACTGGTAACTGCAAAGCCTTTTGTGCTGGACCCAGGAATCCTTACCATGGAGCAGCAGATAGTCCCAGTATACTCACTTATCTCATCCATGGATGTAAATGATGATGAATCAACATAGTAACTGAAATGAAATCTTCTTGATTTTAAATAATATACGAATGGTGCTATTAATATTGCTAAAATCAACGTGTGAAGTGTGTTGTGGAAGAGACCTGTAAGTATGGGGGGGGGGCGATATTTTATCAGACCATTTTGTAAATAAAGGCAGAATTTGTGTTGAAGATTCTTATATGAATAACCTTCCTGGATTTGTTTAGTTTTGCACCAATAAAACTGTGTACTACTGTTTGTTGGTTTAAGAGTAGCAGATTGAAATATAAGAAGCCAGATTAGACTCTAAAATTGTGGCCATTGGAATCTCATTTATAAATGGACCTTTTAAGTATATTAATTCCTCTTCAGAATTGAGCTGGACACATTTGGCATTCTTAGTTTGTCATATAACCAGGTTTATCCTTAGTCTAACTGCAAGGGATGGAACCTGCCCCAGGTCACAATCATTCTGTCCAATCCAGCCAAGGTTCCCTCCACATATGAAGATGGACCATGGCAGGATACAACTGATTGTGTGGCACCATGTATTAGCAGTGGGAATATGTATCACATATGATGCAGCCTTTCATATTTCAGCAGTTTGCCACTGTGACTGTCTGGCAAGCCCCCAGATGGCGTTATATTAATTGGATTAGATTATTTTGCTCACCTTATGTAATACTGTAACTTCCTATAACCTAATATTTTCGGTATCATTAACCAAAATTTCACACTCATAGTTGCTAAAGAGAATGTTATTCAATCATTAAACTCTGAACTGATTTCTTCTATACATTTAAATTATCCACCCTCAATAATACGGGTGCTCAACCCTATGCATTTTTTAAGTGTTGCTATTTCTTAATTAAATTGATTTCCTGTCATTTTGAATCATTTATCACCTGCGATGCATGATTCTATTAATTTTGTTATGTTACTGTTTTAACCAAAGCTGACCGTAAGGATAAAACACTTAAGTTGTTGCTGAGTACTATATATCCTCAATATGCATGTCTGCCCATCACATCAAATGTTCTGTCAACAAGATGTTTGGTAATTTTTTTTAAAAAGGTTGGAAAATTAATTATAGAAGGTTCTATACTGTTTTTTTAATTAAGAAACTAAGTCTAGCAGGCTAAAGGTTAATTGTAGTGATTTTTTTTCACATAGATATCTTTCTATGACCTAGTTAGTTACTGCAATTCAGAATTAGTTCACATTGCATAAAGAATTACTTGTTGTAAGCAAAATGCTGAAACTACCAAACCAGTGGATGAAGACCACTAAGAACTTTGCACATAATCATACAATCTTTTGAAAATATTTTGCAAATATGTGTTTAGACAATAAGATGGACTAGAGTTCGACAAAATGATTTCTTTATTTAAATTTTGTATAAGTATTTTCTTCGACACTTTCAAATTATATTGTGTTCTTGATATATGCTGTATATTTATTTGTTAGTGCATGTGTTTTTAATTTACATGAAAACATGAGTTAGGAGAAATTACAGGTTGAAAGATGAAATGCCTGTATGTGCTCTGAAGAAATGGTAATTCCAGATTGTGCAGGGGGAAACAAATCTATTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTTGCCCTGTGGCTGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAAGCATGCACCACCACGCCCAGCTAATTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATGATCTGAATCTCTTGACCTCGTGATCCGCCCGCCTTGGCCTCCACAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCTATATTGTTTTGAAAGCATACTCTATATATAGTTATGGGCAGAGGCACAGGCATCCTCAGCAGCTGATTCAGGAGATGATGGTAAAGCTAGCTAACTATGAATTAAACATTCACATATCCAGTCTACCTGGTCCAGTAATAATACAAGCAAATCTTGTATTTCAGGAACAAATCAAGGTTCTCTTAATTTTTTGGCTTATATACAATGAAGTAAAAACTTGATAAACATGGTTTCAAATTGAGGAGGAGAGTCTTGGATGTATGTTTTAATATGTATACCTTATAATTCTGCCTCTAGCCAAATGCTATGTTTGCAAAATGTGGCATCTGTTAGTTTTTATTGTCTGTGTCTTCTTTGTTTACTATACCTTGGGTAATTTTGTGTTACCAAAAAAAAAAAAAAAAAAAGGAAGTGTAATGTCAGACACACAAGAAAAGCAAATCAGTGTTGTAAGCTTAAAGTACAATTTCAAAGGTCACTACCAACAGCAGGGTTTTTTTTATACTTTGAAAACATTATGCTACATATCATTGCCATTTTCATATTTTGGGGTTTTGCTACTCTTATACAATGGAATCAATGGAAATGTCATCCAGCCACTGAATTGCCATTATTATATCTAAAAAGTTTCTAAGATGACAGTTATCACTATTTTGTTTTATCTCCATGCTGACATTTGAAAGAAGGTACTAGTATCCCTCTAGCCAGATTGCTTAGTTTTTCGTTGGTAATCAAACAACAGTTGTACTAAAGGAAAGTAAAGCTAGGACCTAAATCAGAATCATAGTTGCCTGCATATATGGTAACAAGGTCGTGTGCATTTGCTTTCACAGTGATGAGTGAGAGGATGAGAAGAAATTATTTGACATTTTTCTGTGGTTGAATAGAAGACACCTTTCTTTTGTCTTTAGGTTTAGGAGGAGATACTAAGATACTGGATGTTTATCCTATCTTAGTTTGGTTGGAGTAATAAGAGAGAAGAAGAGGGTGGACTTTGGCTTTTCAGTGTTTTTTCCCCTAAAGAGTGATATTGCTGACGTTTCTATCAATTTTACACATAATATGTGGCTATGAAACCATATATCTCACTTAAGTAACAAAGTAATCACTTTGTCTATCACTAAGTAATAGACAAAAATCATTGTCTATTATTTAAAGCCAACAAAACAGTGTAACAGTTTTAAGTTCAATAATGTTAAGTATTGTATAGAAATATATTGGAGGCAAAGTTCAGTTGATGACAATTGTGTATATGTTACTGATGCTGTAAATTATTTTTAATAAAGAAAATTGTATTATCACA)$ MENEIFTPLLEQFMTSPLVTWVKTFGPLAAGNGTNLDEYVALVDGVFLNQVMLQINPKLESQRVNKKVNNDASLRMHNLSILVRQIKFYYQETLQQLIMMSLPNVLIIGKNPFSEQGTEEVKKLLLLLLGCAVQCQKKEEFIERIQGLDFDTKAAVAAHIQEVTHNQENVFDLQWMEVTDMSQEDIEPLLKNMALHLKRLIDERDEHSETIIELSEERDGLHFLPHASSSAQSPCGSPGMKRTESRQHLSVELADAKAKIRRLRQELEEKTEQLLDCKQELEQMEIELKRLQQENMNLLSDARSARMYRDELDALREKAVRVDKLESEVSRYKERLHDIEFYKARVEELKEDNQVLLETKTMLEDQLEGTRARSDKLHELEKENLQLKAKLHDMEMERDMDRKKIEELMEENMTLEMAQKQSMDESLHLGWELEQISRTSELSEAPQKSLGHEVNELTSSRLLKLEMENQSLTKTVEELRTTVDSVEGNASKILKMEKENQRLSKKVEILENEIVQEKQSLQNCQNLSKDLMKEKAQLEKTIETLRENSERQIKILEQENEHLNQTVSSLRQRSQISAEARVKDIEKENKILHESIKETSSKLSKIEFEKRQIKKELEHYKEKGERAEELENELHHLEKENELLQKKITNLKITCEKIEALEQENSELERENRKLKKTLDSFKNLTFQLESLEKENSQLDEENLELRRNVESLKCASMKMAQLQLENKELESEKEQLKKGLELLKASFKKTERLEVSYQGLDIENQRLQKTLENSNKKIQQLESELQDLEMENQTLQKNLEELKISSKRLEQLEKENKSLEQETSQLEKDKKQLEKENKRLRQQAEIKDTTLEENNVKIGNLEKENKTLSKEIGIYKESCVRLKELEKENKELVKRATIDIKTLVTLREDLVSEKLKTQQMNNDLEKLTHELEKIGLNKERLLHDEQSTDDr|v* 03BR006 ENSG00000115944.15 ENSG00000143924.19(3197),ENSG00000115944.15(13593) -/- ./- chr2:42353212 chr2:42335745 CDS/splice-site intergenic deletion/read-through 14 4 0 453 28 medium out-of-frame . Cytochrome_c_oxidase_subunit_VII(100%)| . . ENSG00000115944.15 . ENST00000378669.5 . upstream downstream duplicates(1) ^(AGAATGGTAAACACAGCAGCAGAGCTACCACACACTTCCCTTCTGGGAGCGGTGGGGAAAGCAGCCAGGGAGGTCGGGAGATGGACGGAAACTGCTGGGGATGTGAGAAGCCTGGGGCACTAACTGGAGTTGTTATTGACTTG___GTTGCCAGGGGAAGCTTGGCCGACAAGTCTATACTCCTGGGCAGACTGAGCAACAGCAGGTGGTGGCTTCTGGATAAGAGGTGCTCTAGGTCGGAAGGAAATAAATGAGACTACGATCAGTTAAAGTTCGGTAAAGCAAGAGACGCCTTCAACCCGACGACCAGACGGTGGCTCCGCAGCACAGACTCTCTCGGATGGTGGAATTCCCAACCGGCTTCGATGTAGCCCCGCCCCTACCCAGACCACGCCCACCAATCACCGCCCTCTCCCCCCCAGGCCCCGCCTGGAGCCCGCCCCTCCTAAAGCATGCTCCACCTGACTCCGACACTGCCGGGCTTAGTCCGCCGGGCTTAGTCCGTGGAGCGCTTGCGCATTTCTTGAGTTGTCGTGGCACTGCCCAAATCTGAATGGGGGAAAGAGGGAACTTCATATTTCCTACAGACTCCGCCACAGCGACTTTGCGTGCTCTCTTAGAGCTGGTTTTGCCTTTCGTGGTCCTGAGAACCCTGGCTTTTGGTTCCCCAATGCGGCTTAAGTGTGCAGGTTTTAAGTTAGGCGATCTTCGGGCAGCCCTAGTCCCAGCACCGGGTCCTTGCGCTGAGTCTCGGGACCACAGCCGGGGAG)GCGGGGTCaTTCTCTGGGGCGGTCGCGTTGGCAGCGGATGCGGGAAGCCGGACTCTGGGCGTCATGTACTACAAGTTTAGTGGCTTCACGCAGAAGTTGGCAGGAGCATGGGCTTCGGAGGCCTATAGCCCGCAG___GGATTAAAGCCTGTGGTTTCCACAGAAGCACCACCTATCATATTTGCCACACCAACTAAACTGACCTCCGATTCCACAGTGTATGATTATGCTGGGAAAAACAAAGTTCCAGAGCTACAAAAGTTTTTCCAG|TGCATATAACCTACAGCAAGCGAGCATGGCAGCTGGCTGCACGGACTCCGGAGGCGGGAGTACCTGGCTTCAACTCGTAACTCAGCCAGTCGGCTTCTGTGTACCTCAAGTTTCTTCATCTGTGAAATGGAG MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQ|ci* 03BR006 ENSG00000134463.15 ENSG00000225778.5(10368),ENSG00000151461.20(14954) +/+ ./+ chr10:11755669 chr10:11905068 intron intergenic deletion/read-through 10 5 0 51 16 medium stop-codon . . . . ENSG00000134463.15 . ENST00000379215.9 . downstream upstream duplicates(1) ^(GTAGTACGGACTGGGCCTGGCCTGGGGCGTCCCCGCGAAGCCTGGGCCTGTCAGGCGGTTCCGTCCGGGTCTCGGCCACCGTCGAGTTCCGTCGAGTTCCGTCCCGGCCCTGCTCACAGCAGCGCCCTCGGAGCGCCCAGCACCTGCGGCCGGCCAGGCAGCGCGATCCTGCGGCGTCTGGCCATCCCGAATGCTATGGCCGCCGTCGCCGTCTTGCGGGCCTTCGGGGCAAGTGGGCCCATGTGTCTCCGGCGCGGCCCCTGGGCCCAGCTCCCCGCCCGCTTCTGCAGCCGGGACCCGGCCGGGGCGGGGCGGCGGGAGTCGGAGCCGCGGCCCACCAGCGCGCGGCAGCTGGACGGCATAAG___GAACATCGTCTTGAGCAATCCCAAGAAGAGGAACGCGTTGTCACTTGCAATGCTGAAGTCTCTCCAAAGTGACATTCTTCATGACGCTGACAGCAACGATCTGAAAGTCATTATCATCTCGG___CTGAGGGGCCTGTGTTTTCTTCTGGGCATGACTTAAAGGAGCTGACAGAGGAGCAAGGCCGTGATTACCATGCCGAAGTATTTCAGACCTGTTCCAAG___GTCATGATGCACATCCGGAACCACCCCGTTCCCGTCATTGCCATGGTCAATGGCCTGGCCGCGGCTGCCGGCTGTC)AACTGGTTGCCAGCTGCGACATTGCCGTGGCGAGCGACAAGTCCTCTTTTGCCACTCCTGGGGTGAACGTCGGGCTCTTCTGTTCTACCCCTGGGGTTGCCTTGGCAAGAGCAGTGCCTAGAAAGGTAATTTAACTgCCCCCACCCACCTCTGCCTCCCAGCCTTCTCCGGAGTTCCTCCTCCAGT|GGATGAAAAGACAAACTACCTACTGGGGAGAAATGTTGAAAAACCACGTAACTCACAAAGGACTTGTATCTAGAGTACATAAAGACTTCTCAAAACTCAATGGTAAAAACACA . 03BR006 ENSG00000174238.15 ENSG00000132376.20 -/- -/+ chr17:1534099 chr17:1507905 CDS/splice-site intron inversion/5'-5' 7 5 0 1245 19 medium out-of-frame . Phosphatidylinositol_transfer_protein(100%)| . . ENSG00000174238.15 ENSG00000132376.20 ENST00000313486.12 . upstream upstream . ^(GCGCGGCGCTGCGGAACCGGAGCTCCGGGCGGCGTCGGCAGCGGCGCGAGAGGCGACGAGGCCCGGGCGGCAGGAGCCGGCGCGGCGACCGCGGCGAGGGCGGCGGGGACGGAGCAGAGCACGACGAAGACGCACAGGCAGCCGGGCCGGGCCGGGCCACGGGGAGAGCGGCCGGCGGGCAGCGGGCGGGAGGCCGGGCGGGCCGCGGGCAGCCACCGAGCCGCGAAGCGACATGGTGCTGCTCAAGGAGTA___TCGAGTAATCCTGCCTGTGTCTGTAGATGAG___TATCAAGTGGGGCAGCTGTATTCTGTGGCTGAGGCCAGTAAAAATGAAACGGGTGGTGGCGAAGGCGTGGAGGTCCTGGTGAATGAGCCCTACGAGAAGGACGGTGAGAAAGGCCAGTACACACACAAGATCTACCACCTGCAGAG___CAAAGTACCCACGTTTGTTCGAATGCTGGCCCCAGAGGGAGCCCTGAATATACACGAGAAAGCCTGGAATGCTTACCCCTACTGCAGAACCG___TTATTACA___AATGAGTACATGAAAGAAGACTTTCTGATTAAAATTGAAACCTGGCACAAACCAGATCTTGGCACGCAGGAGAAT___GTGCATAAGCTGGAGCCTGAGGCGTGGAAACACGTGGAAGCCGTATATATAGACATTGCAGATCGAAGCCAAGTGCTCAGCAAG___GATTAC)AAGGCcGAGGAAGACCCAGCAAAATTTAAATCTATCAAgACAGGCCGAGGACCCTTGGGCCCCAATTGGAAG___CAAGAGCTTGTAAACCAGAAGGACTGCCCATATATGTGTGCATACAAACTGGTGACCGTCAAGTTCAAGTGGTGGGGCCTGCAGAACAAAGTGGAGAACTTCATCCATAAG___CAAGAGAGGCGTCTGTTTACAAACTTCCACAGGCAGCTGTTCTGTTGGCTCGATAAGTGGGTTGACCTGACCATGGACGACATTCGAAGGATGGAAGAAGAGACGAAGAGACAGCTGGATGAA|CACATCCAGGGTCTGTTACCCTGGCTTTTCCATGTGAAGATCAGGCGTGGCTGCCTCACCCCTGGATGCGAAGCCCTGCTAGACAGCCTCCCCCACCAGACCTGGGCAAAAGAAAACAGCAGCGAGGGCATCTAGCAACACTCTGCACAGCTCACATGGCCCCCACCGTGGGCTCAGATCAC MVLLKEYRVILPVSVDEYQVGQLYSVAEASKNETGGGEGVEVLVNEPYEKDGEKGQYTHKIYHLQSKVPTFVRMLAPEGALNIHEKAWNAYPYCRTVITNEYMKEDFLIKIETWHKPDLGTQENVHKLEPEAWKHVEAVYIDIADRSQVLSKDYKAEEDPAKFKSIKTGRGPLGPNWKQELVNQKDCPYMCAYKLVTVKFKWWGLQNKVENFIHKQERRLFTNFHRQLFCWLDKWVDLTMDDIRRMEEETKRQLDE|hiqgllpwlfhvkirrgcltpgcealldslphqtwakenssegi* 03BR006 ENSG00000106346.11 ENSG00000122512.16 +/+ -/+ chr7:6150061 chr7:5999868 CDS intron duplication/5'-5' 7 2 0 12 9 medium out-of-frame . Ubiquitin_carboxyl-terminal_hydrolase(100%)| . . ENSG00000106346.11 ENSG00000122512.16 ENST00000306177.9 . downstream upstream duplicates(1) ^(AGGGGCGCGGCGGGCGCGGCGCTGACCCGGAGGCGGCGGCGGCGGTGCCCGGATGGAGGCACGTCATTGTCCCCCGCCGGGCGGCTGGGCTGTGTGCGGCGGCGGCGGCGGCGGCCGAGGGGGATGGAGCGAGCGCCGAGCCGGGTCAG___AGTTGAACAATGACCATAGTTGACAAAGCTTCTGAATCTTCAGACCCATCAGCCTATCAGAATCAGCCTGGCAGCTCCGAGGCAGTCTCACCTGGAGACATGGATGCAGGTTCTGCCAGCTGGGGTGCTGTGTCTTCATTGAATGATGTGTCAAATCACACACTTTCTTTAGGACCAGTACCTGGTGCTGTAGTTTATTCGAGTTCATCTGTACCTGATAAATCAAAACCATCACCACAAAAGGATCAAG___CCCTAGGTGATGGCATCGCTCCTCCACAGAAAGTTCTTTTCCCATCTGAGAAGATTTGTCTTAAGTGGCAACAAACTCATAGAGTTGGAGCTGGGCTCCAGAATTTGGGCAATACCTGTTTTGCCAATGCAGCACTGCAGTGTTTAACCTACACACCACCTCTTGCCAATTACATGCTATCACATGAACACTCCAAAACAT___GTCATGCAGAAGGCTTTTGTATGATGTGTACAATGCAAGCACATATTACCCAGGCACTCAGTAATCCTGGGGACGTTATTAAACCAATGTTTGTCATCAATGAGATGCGGC___GTATAGCTAGGCACTTCCGTTTTGGAAACCAAGAAGATGCCCATGAATTCCTTCAATACACTGTTGATGCTATGCAGAAAGCATGCTTGAATGGCAGCAATAA___ATTAGACAGACACACCCAGGCCACCACTCTTGTTTGTCAGATATTTGGAGGATACCTAAGATCTAGAG___TCAAATGTTTAAATTGCAAGGGCGTTTCAGATACTTTTGATCCATATCTTGATATAACATTGGAGATAAAG___GCTGCTCAGAGTGTCAACAAGGCATTGGAGCAGTTTGTGAAGCCGGAACAGCTTGATGGAGAAAACTCGTACAAGTGCAGCAA___GTGTAAAAAGATGGTTCCAGCTTCAAAGAGGTTCACTATCCATAGATCCTCTAATGTTCTTACACTTTCTCTGAAACGTTTTGCAAATTTTACCGGTGGAAAAATTGCTAAG___GATGTGAAATACCCTGAGTATCTTGATATTCGGCCATATATGTCTCAACCCAACGGAGAGCCAATTGTCTACGTCTTGTATGCAGTGCTGGTCCACACTGGTTTTAATTGCCATGCTGGCCATTACTTCTGCTACATAAAA___GCTAGCAATGGCCTCTGGTATCAAATGAATGACTCCATTGTATCTACCAGTGATATTAGATCGGTACTCAGCCAACAAGCCTATGTGCTCTTTTATATCAG___GTCCCATGATGTGAAAAATGGAGGTGAACTTACTCATCCCACCCATAGCCCCGGCCAGTCCTCTCCCCGCCCCGTCATCAGTCAGCGGGTTGTCACCAACAAACAGGCTGCGCCAGGCTTTATCGGACCACAGCTTCCCTCTCACATGATAAAG___AATCCACCTCACTTAAATGGGACTGGACCATTGAAAGACACGCCAAGCAGTTCCATGTCGAGTCCTAACGGGAATTCCAGTGTCAACAGGGCTAGTCCTGTTAATGCTTCAGCTTCTGTCCAAAACTGGTCAGTTAATAGGTCCTCAGTGATCCCAGAACATCCTAAGAAACAAAAAATTACAATCAGTATTCACAACAAGTTGCCTGTTCGCCAGTGTCAGTCTCAACCTAACCTTCATAGTAATTCTTTGGAGAACC)CTACCAAGCCCGTTCCCTCTTCTACCATTACCAATTCTGCAGTACAGTCTACCTCGAACGCATCTACGATGTCAGTTTCTAGTAAAGTAACAAAACCGATCCCCCGCAGTGAATCCTGCTCCCAGCCCGTGATGAATGGCAAATCCAAGCTGAACTCCAGCGTGCTGGTGCCCTATGGCGCCGAGTCCTCTGAGGACTCTGACGAGGAGTCAAAGGGGCT|TCGTATAATAGAAACACTGGCACAAGCATTTTGGTATGCAAAGAGATACACAAAAATGTTCACTGAAACAATCTCTATGAACAAACAGAAACAACCTAAGCAAGCATCATTGAGGAGTTGATTAATTATGGTATAGCCATAGCGCAGCAGAATGACAACAAATAAGGCAGTG MTIVDKASESSDPSAYQNQPGSSEAVSPGDMDAGSASWGAVSSLNDVSNHTLSLGPVPGAVVYSSSSVPDKSKPSPQKDQALGDGIAPPQKVLFPSEKICLKWQQTHRVGAGLQNLGNTCFANAALQCLTYTPPLANYMLSHEHSKTCHAEGFCMMCTMQAHITQALSNPGDVIKPMFVINEMRRIARHFRFGNQEDAHEFLQYTVDAMQKACLNGSNKLDRHTQATTLVCQIFGGYLRSRVKCLNCKGVSDTFDPYLDITLEIKAAQSVNKALEQFVKPEQLDGENSYKCSKCKKMVPASKRFTIHRSSNVLTLSLKRFANFTGGKIAKDVKYPEYLDIRPYMSQPNGEPIVYVLYAVLVHTGFNCHAGHYFCYIKASNGLWYQMNDSIVSTSDIRSVLSQQAYVLFYIRSHDVKNGGELTHPTHSPGQSSPRPVISQRVVTNKQAAPGFIGPQLPSHMIKNPPHLNGTGPLKDTPSSSMSSPNGNSSVNRASPVNASASVQNWSVNRSSVIPEHPKKQKITISIHNKLPVRQCQSQPNLHSNSLENPTKPVPSSTITNSAVQSTSNASTMSVSSKVTKPIPRSESCSQPVMNGKSKLNSSVLVPYGAESSEDSDEESKGl|riietlaqafwyakrytkmftetismnkqkqpkqaslrs* 03BR006 ENSG00000117118.10 ENSG00000117115.13(34072),ENSG00000204362.6(36260) -/- ./- chr1:17022608 chr1:17153523 CDS/splice-site intergenic duplication 4 4 0 1062 9 medium out-of-frame . 2Fe-2S_iron-sulfur_cluster_binding_domain(100%),4Fe-4S_dicluster_domain(100%)| . . ENSG00000117118.10 . ENST00000375499.8 . upstream downstream . ^(GTCAGGAGCCAAGATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGCCGGTTGCCGGCCACAACCCTTGGCGGAGCCTGCCTGCAG___GCCTCCCGAGGAGCCCAGACAGCTGCAGCCACAGCTCCCCGTATCAAGAAATTTGCCATCTATCGATGGGACCCAGACAAGGCTGGAGACAAACCTCATATGCAGACTTATGAAGTTGACCTTAATAA___ATGTGGCCCCATGGTATTGGATGCTTTAATCAAGATTAAGAATGAAGTTGACTCTACTTTGACCTTCCGAAGATCATGCAGAGAAG___GCATCTGTGGCTCTTGTGCAATGAACATCAATGGAGGCAACACTCTAGCTTGCACCCGAAGGATTGACACCAACCTCAATAAGGTCTCAAAAATCTACCCTCTTCCACACATGTATGTGATAAAGGATCTTGTTCCC___GATTTGAGCAACTTCTATGCACAGTACAAATCCATTGAGCCTTATTTGAAGAAGAAGGATGAATCTCAGGAAGGCAAGCAGCAGTATCTGCAGTCCATAGAAGAGCGTGAGAAACTG___GACGGGCTCTACGAGTGCATTCTCTGTGCCTGCTGT)AGCACCAGCTGCCCCAGCTACTGGTGGAACGGAGACAAATATCTGGGGCCTGCAGTTCTTATGCAG___GCCTATCGCTGGATGATTGACTCCAGAGATGACTTCACAGAGGAGCGCCTGGCCAAGCTGCAGGACCCATTCTCTCTATACCGCTGCCACACCATCATGAACTGCACAAGGACCTGTCCTAAG|GCTGTATGGGAAGAATGATGCTGGCATCTGCTTGGTTTCTGGGGAAGCCTCAGAAAACTTACAATCATGATGGAAGGTGAAGGACAAACAGGTACATCTTACATGGCCAAAGCAGGAGCAAGAAGAGTGTGAGTGGTGGGTGCTATTCATTAAACAACCAG MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIKNEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEEREKLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSLYRCHTIMNCTRTCPK|avwee* 03BR006 ENSG00000239951.1 ENSG00000065000.19 -/- -/- chr2:89142572 chr19:2121327 3'UTR/splice-site intron translocation 7 0 0 1336 34 medium in-frame . Immunoglobulin_V-set_domain(100%)|AP-3_complex_subunit_delta-1_(100%),Adaptin_N_terminal_region(100%) . . ENSG00000239951.1 ENSG00000065000.19 ENST00000492167.1 ENST00000643116.3 upstream downstream duplicates(1),mismatches(3) ^(CCTGGGTCAGAGCTCTGGAGAAGAGCTGCTCAGTTAGGACCCAGAGGGAACCATGGAAACCCCAGCGCAGCTTCTCTTCCTCCTGCTACTCTGGCTCCCAG___ATACCACCGGAGAAATTGTGTTGACGCAGTCTCCAGGCACCCTGTCTTTGTCTCCAGGGGAAAG)AGCCACCCTCTCCTGCAGGGCCAGTCAGAGTaTTAGtAGCAGCaACTTAGCCTGGTACCAGCAGAAACCTGGCCAGGCTCCCAGGCTCCTCATCTATGGTGCATCCAtCAGGGCCACTGGCATCCCAGACAGGTTCAGTGGCAGTGGGTCTGGGACAGACTTCACTCTCACCATCAGCAGACTGGAGCCTGAAGATTTTGCAGTGTATTtCTGTCAGCAGTtTGGTgGCTCACCcCC|GTACACTTTTGCCCAGGgGaCCAA(GAAGAACCTGATGGAGATCGTGAAGAAGCTGATGACCCACGTAGACAAGGCAGAGGGTACCACCTACCGTGACGAGCTGCTCACCAAGATCATTGACATCTGCAGCCAGTCCAACTACCAGTACATCACCAACTTCGAGTG___GTACATCAGCATCCTGGTGGAGCTGACCCGGCTGGAGGGCACACGGCACGGCCACCTCATCGCCGCCCAAATGCTGGACGTGGCCATCCGCGTGAAGGCCATCCGCAAGTTCGCCGTGTCCCAGATGTCTGCGCTGCTTGACAGTGCACACCTGCTGGCCAGCAGCACCCAGCGGAACGGGATCTGTGAGGTGCTGTACGCTGCCGCCTGGATCTGCGGGGAGTTCTCAGA___GCATCTGCAGGAACCACACCACACTTTGGAGGCCATGCTGCGGCCCAGAGTCACCACGCTGCCAGGCCACATCCAGGCCGTGTATGTGCAGAACGTGGTCAAGCTCTACGCCTCCATCCTGCAGCAGAAGGAGCAGGCCGGGGAGGCAGAGGGCGCTCAGGCCGTCACCCAGCTCATGGTGGACCGGCTGCCCCAGTTTGTGCAGAGCGCAGACCTGGAGGTGCAGGAGCGG___GCGTCCTGCATCCTGCAGCTGGTCAAGCACATCCAGAAGCTTCAGGCCAAGGACGTGCCTGTGGCAGAGGAGGTCAGCGCTCTCTTTGCTGGGGAGCTGAACCCAGTGGCCCCCAAGGCCCAGAAGAAGGTTCCAGTCCCCGAAGG___CCTGGACCTGGACGCCTGGATCAATGAGCCACTCTCGGACAGCGAGTCAGAGGACGAGAGGCCCAGGGCCGTCTTCCACGAGGAGGAGCAGCGGCGTCCCAAGCACCGGCCGTCGGAGGCGGACGAGGAAGAGCTGGCTCGG___CGCCGAGAGGCCCGGAAGCAGGAGCAGGCCAACAACCCCTTCTACATCAAGAGCTCGCCATCGCCACAGAAG___CGGTACCAGGACACCCCGGGCGTGGAGCACATTCCCGTGGTGCAGATTGACCTCTCCGTCCCCTTGAAGGTTCCAG___GGCTGCCTATGTCAGATCAGTATGTGAAGCTGGAGGAGGAGCGGCGGCACCGGCAGAAGCTGGAGAAGGACAAGAGGAGGAAAAAGAGGAAGGAGAAGGAGAAGAAGGGCAAGCGCCGCCACAGCTCGCTGCCCACGGAGAGCGACGAGGACATCGCCCCTGCCCAGCAGGTGGACATCGTCACAGAGGAGATGCCTGAG___AATGCTCTGCCCAGCGACGAGGATGACAAAGACCCCAACGACCCCTACAGGGCTCTGGATATTGACCTGGATAA___GCCCTTAGCCGACAGCGAGAAACTGCCTATTCAGAAACACAGAAACACCGAGACCTCAAAATCCCCTGAGAAGGACGTTCCCATGGTAGAAAAGAAGAGCAAGAAACCCAAGAAGAAAGAGAAAAAACACAAAGAGAAAGAGAGAGACAAGGAGAAGAAGAAGGAGAAGGAGAAGAAG___GCTGAGGACCTGGACTTCTGGCTGTCTACCACCCCACCGCCTGCCCCCGCCCCCGCCCCCGCCCCCGTTCCATCCACG___GGGGAGCTCAGTGTGAACACTGTCACTACCCCGAAGGACGAGTGTGAGGACGCCAAGACGGAGGCGCAGGGCGAGGAGGACGATGCCGAGGGGCAAGACCAGGACAAG___AAATCTCCCAAGCCTAAGAAGAAGAAGCACAGGAAGGAGAAGGAGGAGCGGACCAAAGGCAAGAAGAAGTCCAAGAAGCAGCCTCCAGGCAGCGAGGAGGCAGCGGGGGAGCCGGTGCAGAATGGCGCGCCAGAGGAGGAGCAGCTCCCG___CCTGAGTCCAGCTACTCCCTCCTCGCTGAAAATTCCTATGTTAAAATG___ACCTGTGACATCCGGGGCAGTCTGCAGGAGGACAGCCAGGTCACTGTGGCCATCGTGCTGGAGAACAGGAGCAGCAGCATCCTCAAGGGCATGGAGCTCAGCGTGCTGGACTCACTCAATGCCAGGATGGCCCGGCCGCAGGGCTCCTCCGTCCACGATGGCGTCCCCGTGCCTTTCCAGCTGCCCCCAG___GCGTCTCCAACGAAGCCCAGTATGTGTTCACCATCCAGAGCATCGTCATGGCGCAGAAGCTCAAGGGGACCCTGTCCTTCATTGCCAAG___AATGACGAGGGTGCGACCCACGAGAAGCTGGACTTCAGGCTGCACTTCAGCTGCAGCTCCTACTTGATCACCACTCCCTGCTACAG___TGACGCCTTTGCTAAGTTGCTGGAGTCTGGGGACTTGAGCATGAGCTCAATCAAAGTCGATGGCATTCGGATGTCCTTCCAGAATCTTCTGGCGAAGATCTGTTTTCACCACCATTTTTCCG___TTGTGGAGCGAGTGGACTCCTGCGCCTCCATGTACAGCCGCTCCATCCAGGGCCACCATGTCTGCCTCCTGGTGAAAAAG___GGTGAGAACTCTGTCTCAGTCGACGGGAAGTGCAGTGACTCCACGCTACTGAGCAACTTGTTAGAAGAGATGAAGGCGACGCTGGCCAAGTGTTGAGAGCTGCCTGCGAGCCCCGCACCACCCCGCGGAGCACGTACCCAGGGACCGCAGCCCTGACGTGTCTCGCCTCTCCTCAGTCGTGTGTACTGTACCCAAGCCTGAGTGTTAATTTAACTCTATGTTGTCCGCCGTGTAGACATCCGAGGTCATTTGTTGCGTTGAATTATCTGACCATCCTTTTTTACTGTGACTCTTCCCATTCTCTTTGGCAAGAAGTCCCCTTCTCGCCCCCAAACCAGCAAGGGACTCCCCCACCTGGGTCTGTGCCCTGCCCCGCGCTGGGGGCCGAGTCCTTGAATGTGGCTTCAGGGGCTCCTGTCCTGGGCCAGGGCCTGATGGGCACCACGTGAGGGGCACTTGGTGGACAGGGCGGGGCTGACGTGGCCTCCTCTGGGGTCGCCTGCTTTTGACCCAAAGGTCCTGACGGTTGCGTCCGGGGGAGGGGAAGGAAGGGCCGCTGTCGCCAAGGTTTTCTCTCCCAGAACCCACAGTGGGAAAGCGGTCTTGCCAGGCGTTGTCCATTGTCAGTGTGCTCGTGGGCTGGTGACTGGGTCTTGGGATCCCAGGCCACGCGCCAGCCAGGCTGTGGGCAGGGCGGGGCCAGGGACGCCAAAGAGAGGTTGCAGTCAGAACCGTGGACGGGGTGGGTTGAGGCCTCTCTGCCACCCGTCTTCCTGGTCAGCAGAAGTGCATCTCGGCTTGGGTTTGGGGTGGTCCGCATCCCCTGCTTGCCACTATGCGCACCAAGGTTTCCCCACATCCTTCCCAGCACCCTTAGGAAGGCCCAGGCAGGGCCTGGAAGCAGCGGACCTGGGCTGTTCTGTGTTGAAGGAGTGTGCCCAGTGCCCTTGGGCAGGACCTGTGAGAGCCACCTCACAGGCAGAGCCCCCACCAGGCAGGGCAAGGAGACTCCGCTCACTCCCCACGGCCAGCGTGGGCACAGGACTGACCCTTCTTCAGAGATAATGACATTTTATCTTCTCCTTTTGATGAAAACTGTCACTTTAGCATGTAATCCATTACAGAATCCCATGCAGTGATTCCAGGATTTGAAATTGTATGATGTGTTACATAAGAATTTATTTGCTATCGACATTCCCGTATAAAGAGAGAGACATATCACGCTGCTGTCATGATTTTGTGTCAAGATGATCCAATAAAGTTGTAAAACAGGCATTTCCA)$ METPAQLLFLLLLWLPDTTGEIVLTQSPGTLSLSPGERATLSCRASQSiSSSnLAWYQQKPGQAPRLLIYGASiRATGIPDRFSGSGSGTDFTLTISRLEPEDFAVYfCQQfGgSPp|ytfaqgtKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVVKLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVPVPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPNDPYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKAEDLDFWLSTTPPPAPAPAPAPVPSTGELSVNTVTTPKDECEDAKTEAQGEEDDAEGQDQDKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLSNLLEEMKATLAKC* 03BR006 ENSG00000115760.14 ENSG00000115760.14 +/+ +/- chr2:32549481 chr2:32609742 CDS/splice-site intron inversion/3'-3' 4 2 0 39 14 medium out-of-frame . Baculoviral_IAP_repeat-containing_protein_6__(100%),Inhibitor_of_Apoptosis_domain(100%)| . . ENSG00000115760.14 ENSG00000115760.14 ENST00000421745.6 . downstream downstream duplicates(1) ^(TCCCTGCTTCTCCCCCTCTCCCGTCAGCCTCCCTCCGAGTTTGGCCCCTCCGGCCGGGCGATCGACGTTCCGCGTGCGTGCGGGCGCCTGACTTCACTTCCGGCTAACGCGCTCGGCTTGCCCCCTGGCCCCGGATGGTGACTGGTGGTGGTGCTGCACCTCCCGGGACTGTCACTGAGCCGCTTCCCAGTGTGATTGTGCTGAGCGCAGGCCGGAAGATGGCGGCTGCGGCTGCGGCGGCCTCGGGCCCCGGCTGCTCCTCGGCGGCGGGGGCGGGGGCGGCCGGGGTCTCAGAGTGGCTGGTGCTGCGGGACGGCTGCATGCACTGCGACGCCGACGGGCTGCACAGCCTGTCCTACCACCCTGCGCTCAACGCCATCCTGGCCGTCACTAGCCGCGGGACCATCAAAGTCATCGACGGCACCTCGGGGGCCACACTGCAGGCCTCCGCGCTCAGTG___CTAAACCAGGTGGACAGGTGAAATGTCAGTATATCTCTGCTGTGGATAAAGTTATATTTGTGGATGATTATGCAGTAGGGTGTAGGAAGGACCTTAATGGAATCTTGTTGTTAGACACTGCTCTGCAAACTCCAGTTTCAAAGCAGGATGATGTGGTTCAGCTTGAATTACCCGTTACAGAG___GCACAGCAGCTCTTATCAGCATGTTTAGAAAAGGTAGATATTTCTAGTACAGAGGGTTATGATTTGTTCATCACACAGCTCAAAGATGGTTTAAAAAATACATCTCATGAGACTGCAGCAAACCACAAAGTTGCTAAG___TGGGCCACAGTTACATTTCATCTTCCTCATCATGTGTTGAAGTCCATTGCCAGTGCCATTGTAAATGAACTCAAGAAAATAAATCAAAATGTTGCTGCCTTACCTGTGGCGTCCTCAGTGATGGACAGATTGTCTTACCTCTTACCTAGTGCACGTCCAGAACTCGGAGTGGGGCCAGGCCGTTCTGTAGACAG___ATCACTGATGTATAGTGAAGCTAACAGACGGGAGACATTTACCTCATGGCCTCATGTAGGCTATAGGTGGGCACAACCAGATCCCATGGCTCAAGCTGGATTTTATCATCAG___CCTGCCTCATCTGGAGATGATAGAGCCATGTGTTTTACTTGTAGTGTATGCCTCGTTTGTTGGGAACCTACTGATGAACCTTG___GTCTGAACACGAAAGACATTCCCCAAACTGCCCATTTGTGAAAGGTGAGCACACACAGAATGTGCCATTGTCAGTCACTCTTGCAACAAGTCCTGCACAGTTTCCTTGTACGGATGGAACTGACAGAATATCTTGCTTTGGGTCGGGGAGCTGCCCTCATTTTCTAGCTGCTGCAACTAAACGAGGAAAGATCTGCATATGGGATGTTTCCAAACTTATGAAG___GTGCACTTAAAGTTTGAAATTAATGCCTATGATCCAGCAATTGTACAACAGCTTATTCTATCAGGAGACCCAAGCTCAGGAGTTGATTCAAGGAGACCAACTTTGGCGTGGCTGGAGGACTCCTCTAGTTGCTCAGATATACCAAAATTGGAAGGAGATAG___TGATGATTTACTGGAGGATTCAGACAGTGAAGAGCATTCCAGATCAGATTCTGTGACAG___GGCATACATCACAGAAGGAAGCCATGGAAGTAAGCCTTGATATAACAGCACTCAGCATTCTCCAACAGCCAGAAAAACTTCAGTGGGAGATTGTTGCAAATGTGCTTGAAGATACTGTTAAGGATCTTGAAGAACTTGGGGCAAATCCTTGTTTAACAAACTCTAAGAGTGAAAAGACAAAGGAAAAGCACCAGGAGCAACACAACATTCCTTTTCCATGTTTATTAGCTGGAGGTTTATTAACATATAAATCTCCTGCTACCTCACCCATTAGTAGTAATTCTCACAGGTCACTGGATGGTTTAAGCAGAACTCAGGGTGAAAGTATATCAGAACAAGGGTCAACTGACAATGAATCCTGCACTAATTCAGAACTAAATTCTCCTCTGGTAAGGAGGACTTTACCGGTTTTGCTTCTTTATAGCATCAAGGAATCTGATGAGAAAGCAGGAAAGATCTTTTCACAGATGAACAATATTATGAGTAAAAGTTTGCATGATGATGGTTTTACTGTTCCACAGATTATTGAAATGGAGCTGGATAGTCAGGAGCAGTTGTTATTGCAGGATCCTCCTGTGACTTACATTCAGCAATTTGCAGATGCAGCAGCCAACCTTACCTCTCCGGATTCTGAGAAGTGGAACTCTGTGTTTCCCAAGCCTGGGACTTTGGTTCAGTGCTTGAGGCTGCCAAAGTTTGCAGAGGAGGAGAATCTTTGTATAGACTCAATAACTCCTTGTGCTGACGGAATTCATTTGTTGGTAGGACTGCGGACATGCCCTGTTGAATCCTTGAGTGCAATAAATCAAGTAGAGGCCTTGAATAATTTAAATAAATTAAACTCTGCACTATGTAATAGACGGAAAGGTGAGCTGGAATCAAATCTTGCTGTAGTGAATGGTGCAAATATTAGTGTAATCCAACATGAATCACCAGCAGATGTACAGACTCCTTTAATAATTCAGCCTGAGCAGAGGAATGTTAGTGGTGGATATTTAGTGCTTTATAAAATGAATTATGCCACTCGGATAGTGACTTTAGAAGAGGAGCCAATAAAAATACAACATATCAAAGATCCCCAGGACACAATTACCTCGCTCATTTTGCTTCCACCCGATATATTGGATAATCGAGAGGATGACTGTGAGGAACCTATTGAGGACATGCAGTTAACCTCAAAGAATGGTTTTGAGAGAGAAAAAACGTCTGACATTTCTACTCTTGGACACCTGGTAATAACCACTCAGGGAGGATATGTAAAAATACTAGATCTTTCAAACTTTGAAATTTTGGCCAAAGTGGAGCCTCCCAAAAAGGAGGGCACTGAGGAACAGGACACATTTGTTTCTGTGATTTACTGTTCTGGCACAGACAGGCTGTGTGCATGCACCAAAG___GTGGTGAGCTTCATTTTCTCCAAATTGGAGGAACCTGTGATGATATTGATGAAGCTGATATACTAGTGGATGGATCTCTTTCTAAAGGAATAGAACCATCTTCAGAAGGTTCCAAACCTTTATCAAATCCTTCAAGTCCTGGCATTTCAG___GAGTTGATTTATTGGTGGACCAGCCATTCACCCTTGAAATCTTGACATCCCTAGTGGAGCTAACCCGCTTTGAGACTTTGACTCCAAGGTTTTCAGCGACTGTTCCTCCATGCTGGGTAGAAGTTCAACAAGAACAGCAGCAAAGGAGGCATCCTCAACATTTGCATCAGCAACACCATGGTGATGCTGCTCAGCATACTCGAACTTGGAAACTACAGACCGACAG___CAACAGCTGGGATGAACATGTATTTGAATTAGTACTACCTAAAGCTTGTATGGTTGGACATGTGGACTTCAAATTCGTTTTGAACTCAAACATCACCAATATTCCACAGATACAAGTGACACTGCTGAAAAATAAAGCTCCAGGATTAGGGAAAGTCAATG___CTCTTAACATTGAAGTGGAACAAAATGGGAAACCGTCCCTGGTTGATTTGAATGAAGAAATGCAGCACATGGATGTAGAGGAATCACAGT___GTCTTAGATTATGTCCATTTTTGGAGGATCATAAAGAAGACATTCTATGTGGGCCAGTATGGCTTGCTAGTGGCCTTGATCTATCAGGGCATGCTGGAATGTTGACGTTAACAAGCCCCAAACTTGTTAAAG___GTATGGCAGGAGGAAAATATCGTTCGTTTTTAATCCATGTCAAGGCAGTGAATGAAAGAGGAACAGAAGAGATTTGTAATGGTGGTATGCGTCCTGTAGTAAGGCTTCCATCCCTAAAACACCAGAGTAACAAGGGTTATTCACTTGCTTCACTTTTGGCTAAAGTTGCAGCAGGCAAG___GAAAAATCATCTAATGTTAAGAATGAAAATACAAGTGGCACCCGTAAATCTGAAAACCTCCGGGGCTGTGATTTACTTCAAGAGGTCTCAGTCACCATTCGAAGATTTAAGAAAACCTCAATTTCTAAGGAAAG___AGTGCAACGATGTGCCATGTTACAGTTTTCAGAATTTCATGAGAAGCTTCTTAATACTCTTTGCAGAAAAACAGATGATGGCCAGATCACAGAACATGCCCAGAGCCTTGTGTTGGATACTCTCTGTTGGTTAGCTGGAGTTCATTCAAATGGACCCGGAAG___CTCAAAGGAAGGAAATGAGAACCTACTTTCAAAAACACGAAAATTTCTGTCAGACATCGTACGTGTTTGCTTCTTTGAGGCAGGACGAAGTATAGCCCATAAGTGTGCCCGATTTCTAGCCTTGTGCATTAG___TAATGGCAAATGTGACCCATGTCAACCAGCATTTGGACCTGTTCTGTTGAAGGCTTTACTTGATAATATGTCATTTTTACCTGCAGCAACAACTGGTG___GTTCTGTCTATTGGTATTTTGTCTTACTGAATTATGTGAAAGATGAAGATCTGGCTGGATGCAGTACAGCTTGTGCATCTTTGCTTACTGCAGTGTCCAGACAGTTACAGGACAGGCTAACACCAATGGAGGCTTTACTTCAGACAAG___ATATGGATTATATAGCTCACCATTTGATCCAGTCCTCTTTGATTTGGAGATGAGTGGCTCTTCTTGTAAAAATGTTTATAACAGCAGCATTGGTGTCCAGTCAGATGAAATTGATTTATCAGATGTCCTTTCAG___GAAATGGAAAGGTCAGTAGTTGCACAGCTGCTGAGGGTAGTTTCACATCTCTCACTGGACTTTTGGAAGTTGAACCTCTGCACTTTACTTGTGTGTCAACTAGTGATGGAACCAGAATAGAAAGGGATGATGCAA___TGAGTTCCTTCGGGGTTACTCCTGCAGTAGGTGGACTATCATCTGGGACAGTTGGGGAAGCCTCGACAGCCCTGAGTTCAGCAGCCCAGGTAGCTTTGCAGTCTCTCTCTCATGCAATGGCTTCAGCCGAGCAACAGCTACAGGTGCTGCAAGAGAAACAGCAGCAGCTTTTGAAGCTTCAGCAACAG___AAAGCAAAGCTGGAAGCCAAGTTACATCAGACAACAGCTGCAGCAGCTGCAGCAGCATCAGCAGTAGGTCCTGTTCACAACTCTGTGCCTTCCAACCCAGTGGCTGCCCCTGGATTCTTCATTCATCCATCTGATGTTATTCCACCCACTCCAAAAACAACACCTCTTTTTATGACTCCACCACTCACTCCACCCAATGAAGCAGTTTCCGTTGTGATTAATGCCGAACTTGCACAGCTTTTCCCAGGCTCAGTCATTGATCCCCCAGCAGTCAATCTTGCTGCACATAACAAAAATTCCAACAAGTCCAGAATG___AATCCACTTGGTTCTGGTCTAGCCCTTGCAATTTCTCATGCTTCACATTTTCTTCAACCTCCGCCTCACCAGTCCATTATTATAGAGCGAATGCATTCAG___GAGCAAGAAGATTTGTGACCTTGGATTTTGGGAGGCCTATATTGTTGACTGATGTATTGATTCCCACTTGTGGAGACTTGGCCTCTTTGTCAATTGACATTTGGACATTAGGAGAAGAGGTGGATGGAAGGCGGTTGGTAGTGGCAACTGATATAAGCACTCATTCACTAATTCTTCATGACTTAATACCACCTCCCGTGTGCAGATTCATGAAG___ATCACTGTTATTGGACGTTACGGGAGTACAAATGCCAGAGCCAAAATCCCATTAGGATTTTACTATGGTCATACCTACATCTTGCCTTGGGAAAGTGAACTGAAGTTAATGCATGATCCTCTAAAGGGAGAGGGAGAATCTGCAAACCAGCCAGAAATTGACCAGCATTTAGCAATGATGGTTGCTTTGCAGGAGGATATACAGTGCAG___GTATAACTTGGCTTGTCATCGTCTGGAAACCCTTTTGCAAAGTATTGATCTTCCTCCTCTAAACAGTGCTAACAATGCACAGTACTTTTTACGAAAACCAGATAAGGCAGTTGAGGAAGACAGTAGGGTTTTTTCTGCTTATCAAGATTGTATTCAGCTACAGCTTCAACTAAATTTGGCTCATAATGCAGTGCAGAGGCTCAAAGTGGCGCTAGGTGCAAGCCGGAAGATGTTGAGTGAAACATCAAATCCAGAAGATTTAATTCAGACATCTTCCACAGAGCAGTTACGTACTATCATCAGATATTTACTGGACACTTTGCTCAGCCTGCTTCATGCTTCTAATG___GACACTCTGTTCCTGCAGTTTTGCAGAGCACATTTCATGCCCAGGCCTGTGAAGAGCTCTTTAAACACTTGTGCATCAGTGGAACCCCAAAGATACGGTTACATACTGGTCTTCTTCTTGTTCAACTGTGTGGTGGTGAAAGGTGGTGGGGTCAATTTCTTTCTAATGTCCTTCAGGAATTGTACAATTCGGAACAGCTTCTCATCTTTCCACAGGATAG___GGTCTTCATGTTACTTTCCTGCATTGGTCAAAGATCACTTAGTAATAGTGGAGTATTAGAAAGCTTACTTAATCTCTTGGATAATTTATTGTCACCTCTTCAGCCACAGTTACCCATGCATAGGAGGACAGAAG___GAGTACTAGATATTCCCATGATCAGTTGGGTTGTTATGCTGGTGTCCAGGTTGCTGGATTATGTGGCAACTGTTGAAGATGAAGCAGCAGCTGCAAAGAAACCTTTGAATG___GTAATCAGTGGAGTTTTATTAACAATAATCTACACACTCAGAGCTTAAATAGATCTTCTAAAGGCAGCAGTAGCCTTGATAGATTATATTCCAGAAAAATCAGAAAGCAGCTTGTTCATCATAAACAG___CAACTTAACCTACTAAAAGCAAAGCAGAAGGCATTGGTAGAACAGATGGAAAAAGAAAAAATACAAAGTAACAAAGGATCATCATATAAACTCCTGGTAGAACAAGCAAAACTAAAGCAGGCCACTTCAAAG___CACTTTAAGGATTTAATTCGTTTACGTCGGACAGCAGAATGGTCCCGTTCTAATTTAGACACAGAAGTTACAACAGCAAAAGAAAGTCCTGAGATAGAACCACTTCCATTTACTCTGGCCCATGAGCGTTGTATCTCAGTAGTCCAGAAACTTGTTCTGTTTCTTCTCTCCATGGACTTTACATGTCATGCAGATCTCTTATTGTTTGTTTGTAAG___GTTCTTGCACGCATTGCAAATGCCACGAGGCCAACTATTCATCTGTGTGAGATTGTGAACGAACCCCAGCTGGAAAGACTGCTGTTACTTTTGGTTGGAACTGACTTCAATAGAGGAGATATATCTTGGGGTGGTGCTTGGGCTCAGTATTCCTTAACTTGCATGCTACAAGATATTTTAGCAG___GAGAATTACTGGCTCCAGTAGCCGCAGAAGCCATGGAGGAAGGAACAGTGGGTGATGATGTAGGTGCGACAGCTGGTGACTCTGATGACTCCCTTCAACAGTCCTCAGTTCAGTTGCTGGAAACTATAGATGAACCTTTGACACATGACATAACAG___GTGCACCTCCTCTGTCCTCTTTGGAAAAAGATAAAGAAATTGACCTTGAGTTACTTCAGGATCTAATGGAAGTTGACATTGATCCTTTAGATATTGATTTGGAAAAGGACCCTCTTGCAGCCAAGGTTTTTAAG___CCAATAAGCAGTACATGGTATGATTATTGGGGTGCTGATTATGGGACCTACAATTACAACCCTTACATTGGAGGTCTGGGAATTCCTGTAGCAAAGCCACCAGCAAACACGGAGAAGAACGGATCACAGACAGTTAGCGTTTCAGTCTCTCAGG___CCCTGGATGCTCGCCTAGAAGTTGGACTTGAACAGCAAGCAGAACTGATGTTGAAAATGATGTCTACTCTGGAGGCAGATTCCATTTTACAGGCATTAACAAATACATCTCCTACAT___TATCACAGTCTCCCACTGGAACAGATGATTCACTTCTAGGGGGTTTACAAGCAGCAAACCAAACCAGCCAGCTTATTATACAGTTATCATCTGTCCCAATGTTAAATGTTTGTTTCAACAAACTTTTTTCCATGCTTCAAGTCCATCATGTTCAG___TTGGAGTCACTTCTCCAATTGTGGCTCACACTGAGCCTGAATTCTAGTTCAACTGGAAACAAAGAAAATGGAGCAGACATATTTTTATATAATGCTAATAGGATACCTGTTATTTCATTAAATCAAG___CATCAATAACTAGCTTTCTCACAGTGTTAGCTTGGTATCCCAATACTTTGCTCCGGACATGGTGCCTTGTGCTTCATAGCCTAACACTCATGACAAACATGCAGCTTAATT___CTGGTTCCAGCAGTGCCATTGGAACTCAGGAGAGTACTGCTCATTTGTTGGTTTCAGATCCAAACCTAATTCATGTATTAGTGAAATTTCTTTCTGGCACCAGTCCACATGGAACAAATCAACACAGTCCACAG___GTTGGTCCTACAGCTACACAAGCTATGCAAGAATTTCTTACTCGATTACAAGTGCATCTTTCTTCAACATGTCCTCAGATATTCAGTGAATTTTTGCTCAAGCTAATTCATATACTTTCAACTGAAAG___GGGTGCTTTCCAGACAGGCCAAGGACCTCTCGATGCCCAAGTGAAGCTCTTAGAATTCACTCTGGAGCAGAATTTTGAAGTCGTTTCAGTTAGTACTATTTCTGCCGTGATAGAATCGGTTACATTTTTAGTGCACCACTATATCACTTGCTCAGACAAAGTAATGTCAAGAAGTGGATCAGATAGCTCCGTGGGTGCTCGAGCATGCTTTGGGGGACTCTTTGCCAATCTTATTCGTCCGGGTGATGCAAAAGCAGTTTGTGGCGAAATGACAAGAGATCAACTCATGTTTGATTTGTTAAAACTTGTTAACATTTTAGTGCAGCTGCCTCTTTCAGGCAATAGGGAATACAGTGCAAGAGTGTCTGTGACCACAAATACAACAGATAGTGTTTCAGATGAAGAAAAAGTCTCAGGAGGCAAAGATGGCAATGGAAGCAGTACCAGTGTTCAAGGATCGCCTGCATATGTTGCTGACTTAGTCTTAGCCAACCAACAAATTATGAGCCAGATTTTGTCTGCTCTGGGCCTGTGTAATAGCAGTGCCATGGCAATGATAATTG___GAGCAAGTGGATTACATCTCACTAAACATGAAAACTTTCATGGTGGGTTGGATGCCATATCAGTTGGGGATGGATTATTTACCATACTGACAACCCTTAGTAAAAAAGCTTCTACAGTCCACATGATGCTGCAGCCAATTTTAACATACATGGCCTGTGGATATATGGGCAGACAA___GGCTCTCTTGCTACTTGCCAGTTATCTGAGCCATTATTGTGGTTCATTTTGAGAGTATTGGATACTAGTGATGCCTTGAAAGCATTTCATGATATGG___GTGGTGTTCAGCTCATATGCAATAATATGGTTACTAGTACAAGGGCTATTGTGAACACTGCAAGAAGTATGGTATCAACTATTATGAAATTTCTTGACTCTGGTCCAAATAAAGCTGTTGACAGCACATTGAAAACAAGAATACTAGCTTCTGAGCCTGACAATGCTGAAGGGATTCATAACTTTGCACCCCTCG___GTACAATCACATCTAGCAGTCCTACTGCCCAACCAGCTGAAGTGCTATTGCAGGCCACACCTCCTCACAGAAGAGCTCGCTCTGCTGCTTGGTCCTACATCTTTCTTCCAGAGGAGGCTTGGTGTGACCTTACCATTCACCTTCCTGCAGCAGTGCTGCTTAAGGAGATACATATCCAGCCTCATCTTGCATCTCTTGCAA___CCTGCCCTTCCTCAGTGTCTGTTGAAGTAAGTGCAGATGGGGTAAATATGCTACCTTTGTCCACTCCTGTTGTCACAAGTGGCCTCACCTACATAAAAATTCAGCTTGTAAAAGCCGAAGTAGCTTCTGCTGTCTGCCTTAGACTACATCGTCCACGGGATGCCAGCACATTAGGCCTTTCACAAATTAAATTATTGGGGCTCACTGCTTTTGGTACCACCTCTTCTGCAACAGTTAATAATCCATTCCTTCCATCTGAAGATCAGGTATCCAAAACAAG___TATTGGATGGTTACGGTTATTACATCATTGCCTTACTCACATAAGTGATCTAGAAGGAATGATGGCAAGTGCAGCTGCACCTACTGCTAATCTGCTGCAGACTTGTGCGGCCTTATTGATGTCACCTTACTGTGGAATGCATTCACCCAACATCGAGGTTGTGCTTGTAAAGATAGGACTGCAGTCTACTAGAATTGGCCTGAAGCTCATAGACATTCTCCTGAGAAATTGTGCAGCATCAGGCAGTGATCCTACAG___ATTTGAATAGTCCTTTACTTTTTGGAAGACTAAATGGACTCTCTTCTGACTCTACGATAGATATTCTTTACCAGCTTGGAACAACTCAGGATCCTGGTACAAAAGACAG___AATTCAGGCCTTGTTAAAATGGGTTAGTGATTCTGCAAGAGTGGCTGCTATGAAGAGAAGTGGCAGGATGAACTACATGTGTCCTAACTCCTCAACAGTAGAGTATGGTCTTCTGATGCCATCTCCTTCTCATTTGCACTGTGTAGCAGCCATTCTGTGGCATAGTTATGAGCTGCTTGTAGAATATGACTTACCAGCACTCCTGGACCAAGAGCTCTTTGA___GTTACTTTTTAATTGGTCCATGTCTCTTCCCTGCAATATGGTTTTGAAGAAAGCTGTTGACAGTCTACTTTGCTCAATGTGTCACGTACACCCAAACTATTTTTCTTTGCTCATGGGCTGGATGGGAATTACCCCTCCTCCAGTGCAATGTCATCATAGACTGTCCATGACAGATGATAGCAAAAAGCAGGATCTTAGTTCATCTTTAACAGATGACTCTAAAAATGCACAAGCACCTCTCGCATTAACTGAATCACATTTGGCTACCCTTGCTTCCTCTTCTCAATCTCCTGAAGCTATTAAACAATTACTAGACTCAGGTTTGCCTTCTCTTCTTGTGAGGAGTCTGGCTAGTTTCTGCTTTAGCCACATTTCTAGCTCAGAAAGCATTGCCCAGTCAATAGATATTTCCCAGGACAAACTCAGGCGCCATCATGTCCCACAACAATGTAATAAGATGCCTATCACAGCCGACCTAGTTGCTCCTATTCTTAGGTTTTTGACAGAAGTTGGCAATAGCCATATTATGAAAGATTGGCTTGGTGGTTCTGAAGTCAATCCACTATGGACAGCACTTCTGTTTTTATTGTGTCACTCTGGGTCCACTTCTGGAAGCCATAATTTAGGTGCACAACAGACCAGTGCAAGATCAGCTTCTCTTTCTTCAGCTGCTACAACAGGACTGACTACTCAACAGCGCACAGCAATTGAGAATGCAACTGTTGCGTTCTTTCTACAGTGCATTTCATGCCATCCTAATAATCAAAAGCTGATGGCACAG___GTTCTTTGTGAACTATTTCAGACATCTCCTCAAAGAGGGAACCTTCCAACATCTGGGAACATTTCAGGGTTTATACGAAGATTATTTTTACAGTTGATGCTGGAAGATGAGAAAGTGACAATGTTTCTTCAGTCTCCATGTCCA___CTGTACAAAGGTAGAATTAATGCTACTAGCCACGTCATCCAGCATCCAATGTATGGAGCAGGCCACAAATTCCGTACTCTTCATTTGCCAGTCTCAACAACATTATCAGATGTTCTTGACAGAGTGTCAG___ATACTCCAAGTATCACAGCTAAATTAATTAGTGAACAAAAAGATGACAAAGAAAAGAAAAACCATGAAGAGAAAGAAAAAGTTAAAGCGGAAAATGGATTTCAAGACAATTACAGTGTTGTTGTTGCCTCTG___GGCTGAAGTCTCAATCTAAACGTGCTGTGTCAGCTACACCACCTCGCCCACCATCCAGGAGGGGGAGGACAATACCTGATAAAATAGGAAGTACTTCAGGAGCAGAGGCTGCCAACAAAATAATTACTGTCCCAGTGTTTCACCTGTTTCACAAACTCTTGGCAG___GCCAGCCATTGCCAGCTGAAATGACACTTGCCCAGCTTTTAACTCTCCTATATGACCGAAAACTTCCTCAGGGTTACCGCTCAATAGATCTGACTGTTAAATTGGGATCAAGAGTTATAACAGACCCCAGTCTATCAAAAACAGATTCTTATAAAAGACTACACCCTGAAAAAG___ATCATGGAGACTTACTTGCTAGCTGTCCAGAAGATGAGGCTCTCACTCCAGGTGATGAATGCATGGATGGGATACTGGATGAATCTTTGCTTGAAACCTGTCCAATTCAGTCACCATTACAAGTTTTTGCAGGAATGGGTGGACTGGCTCTTATTGCTGAAAGACTACCCATGCTATATCCAGAAGTAATTCAACAG___GTGAGTGCTCCAGTTGTAACATCTACCACTCAGGAAAAGCCGAAGGATAGCGATCAGTTTGAATGGGTGACCATTGAACAGTCAGGGGAGTTAGTTTATGAAGCACCAGAAACTGTTGCGGCTGAACCTCCACCTATCAAGTCAGCAGTACAGACCATGTCTCCCATACCTGCCCATTCTTTGGCTGCTTTTGGATTATTTCTTCGTCTTCCGGGCTATGCGGAAGTGCTACTGAAAGAGAGAAAACATGCCCAGTGCCTTCTTCGATTGGTATTGGGAGTGACAGATGATGGAGAAGGAA___GTCATATTCTTCAATCTCCATCAGCCAATGTGCTTCCAACCCTTCCTTTCCACGTCCTTCGTAGCTTGTTTAGCACTACACCTTTGACAACTGATGATGGTGTACTTCTAAGGCGGATGGCATTGGAAATTGGAGCCTTACACCTCATTCTTGTCTGTCTCTCTGCTTTGAGCCACCATTCCCCACGAGTTCCAAACTCTAGCGTGAATCAAACTGAG___CCACAGGTGTCAAGCTCTCATAACCCTACATCAACAGAAGAACAACAGTTATATTGGGCCAAAGGGACTGGCTTTGGAACAGGCTCTACAGCTTCTGGGTGGGATGTGGAACAAGCCTTAACTAAGCAAAGGCTGGAAGA)GGAACATGTTACCTGCCTTCTGCAG___GTTCTTGCCAGTTACATAAATCCCGTCAGTAGTGCGGTAAATGGAGAAGCTCAGTCATCTCATGAGACTAGAGGGCAGAACAGTAATGCCCTTCCTTCTGTACTTCTCGAGCTTCTCAGTCAGTCCTGCCTCATCCCAGCCATGTCATCTTATCTACGAAATGATTCAG|AGTCTCACCGTGCTGCCCAGGCTGGAGTGCCGTGGCGCGATCTTTGCAAAAGTAAAGTATCCAACTTTGTCATTCAAAGGACACTGGAATATAAATTTACTCAGTAACAGCAAAAGCCAAAGAAAAAGAAATATTCATCAGTGCTATCTGATGAAGGAGGTG MVTGGGAAPPGTVTEPLPSVIVLSAGRKMAAAAAAASGPGCSSAAGAGAAGVSEWLVLRDGCMHCDADGLHSLSYHPALNAILAVTSRGTIKVIDGTSGATLQASALSAKPGGQVKCQYISAVDKVIFVDDYAVGCRKDLNGILLLDTALQTPVSKQDDVVQLELPVTEAQQLLSACLEKVDISSTEGYDLFITQLKDGLKNTSHETAANHKVAKWATVTFHLPHHVLKSIASAIVNELKKINQNVAALPVASSVMDRLSYLLPSARPELGVGPGRSVDRSLMYSEANRRETFTSWPHVGYRWAQPDPMAQAGFYHQPASSGDDRAMCFTCSVCLVCWEPTDEPWSEHERHSPNCPFVKGEHTQNVPLSVTLATSPAQFPCTDGTDRISCFGSGSCPHFLAAATKRGKICIWDVSKLMKVHLKFEINAYDPAIVQQLILSGDPSSGVDSRRPTLAWLEDSSSCSDIPKLEGDSDDLLEDSDSEEHSRSDSVTGHTSQKEAMEVSLDITALSILQQPEKLQWEIVANVLEDTVKDLEELGANPCLTNSKSEKTKEKHQEQHNIPFPCLLAGGLLTYKSPATSPISSNSHRSLDGLSRTQGESISEQGSTDNESCTNSELNSPLVRRTLPVLLLYSIKESDEKAGKIFSQMNNIMSKSLHDDGFTVPQIIEMELDSQEQLLLQDPPVTYIQQFADAAANLTSPDSEKWNSVFPKPGTLVQCLRLPKFAEEENLCIDSITPCADGIHLLVGLRTCPVESLSAINQVEALNNLNKLNSALCNRRKGELESNLAVVNGANISVIQHESPADVQTPLIIQPEQRNVSGGYLVLYKMNYATRIVTLEEEPIKIQHIKDPQDTITSLILLPPDILDNREDDCEEPIEDMQLTSKNGFEREKTSDISTLGHLVITTQGGYVKILDLSNFEILAKVEPPKKEGTEEQDTFVSVIYCSGTDRLCACTKGGELHFLQIGGTCDDIDEADILVDGSLSKGIEPSSEGSKPLSNPSSPGISGVDLLVDQPFTLEILTSLVELTRFETLTPRFSATVPPCWVEVQQEQQQRRHPQHLHQQHHGDAAQHTRTWKLQTDSNSWDEHVFELVLPKACMVGHVDFKFVLNSNITNIPQIQVTLLKNKAPGLGKVNALNIEVEQNGKPSLVDLNEEMQHMDVEESQCLRLCPFLEDHKEDILCGPVWLASGLDLSGHAGMLTLTSPKLVKGMAGGKYRSFLIHVKAVNERGTEEICNGGMRPVVRLPSLKHQSNKGYSLASLLAKVAAGKEKSSNVKNENTSGTRKSENLRGCDLLQEVSVTIRRFKKTSISKERVQRCAMLQFSEFHEKLLNTLCRKTDDGQITEHAQSLVLDTLCWLAGVHSNGPGSSKEGNENLLSKTRKFLSDIVRVCFFEAGRSIAHKCARFLALCISNGKCDPCQPAFGPVLLKALLDNMSFLPAATTGGSVYWYFVLLNYVKDEDLAGCSTACASLLTAVSRQLQDRLTPMEALLQTRYGLYSSPFDPVLFDLEMSGSSCKNVYNSSIGVQSDEIDLSDVLSGNGKVSSCTAAEGSFTSLTGLLEVEPLHFTCVSTSDGTRIERDDAMSSFGVTPAVGGLSSGTVGEASTALSSAAQVALQSLSHAMASAEQQLQVLQEKQQQLLKLQQQKAKLEAKLHQTTAAAAAAASAVGPVHNSVPSNPVAAPGFFIHPSDVIPPTPKTTPLFMTPPLTPPNEAVSVVINAELAQLFPGSVIDPPAVNLAAHNKNSNKSRMNPLGSGLALAISHASHFLQPPPHQSIIIERMHSGARRFVTLDFGRPILLTDVLIPTCGDLASLSIDIWTLGEEVDGRRLVVATDISTHSLILHDLIPPPVCRFMKITVIGRYGSTNARAKIPLGFYYGHTYILPWESELKLMHDPLKGEGESANQPEIDQHLAMMVALQEDIQCRYNLACHRLETLLQSIDLPPLNSANNAQYFLRKPDKAVEEDSRVFSAYQDCIQLQLQLNLAHNAVQRLKVALGASRKMLSETSNPEDLIQTSSTEQLRTIIRYLLDTLLSLLHASNGHSVPAVLQSTFHAQACEELFKHLCISGTPKIRLHTGLLLVQLCGGERWWGQFLSNVLQELYNSEQLLIFPQDRVFMLLSCIGQRSLSNSGVLESLLNLLDNLLSPLQPQLPMHRRTEGVLDIPMISWVVMLVSRLLDYVATVEDEAAAAKKPLNGNQWSFINNNLHTQSLNRSSKGSSSLDRLYSRKIRKQLVHHKQQLNLLKAKQKALVEQMEKEKIQSNKGSSYKLLVEQAKLKQATSKHFKDLIRLRRTAEWSRSNLDTEVTTAKESPEIEPLPFTLAHERCISVVQKLVLFLLSMDFTCHADLLLFVCKVLARIANATRPTIHLCEIVNEPQLERLLLLLVGTDFNRGDISWGGAWAQYSLTCMLQDILAGELLAPVAAEAMEEGTVGDDVGATAGDSDDSLQQSSVQLLETIDEPLTHDITGAPPLSSLEKDKEIDLELLQDLMEVDIDPLDIDLEKDPLAAKVFKPISSTWYDYWGADYGTYNYNPYIGGLGIPVAKPPANTEKNGSQTVSVSVSQALDARLEVGLEQQAELMLKMMSTLEADSILQALTNTSPTLSQSPTGTDDSLLGGLQAANQTSQLIIQLSSVPMLNVCFNKLFSMLQVHHVQLESLLQLWLTLSLNSSSTGNKENGADIFLYNANRIPVISLNQASITSFLTVLAWYPNTLLRTWCLVLHSLTLMTNMQLNSGSSSAIGTQESTAHLLVSDPNLIHVLVKFLSGTSPHGTNQHSPQVGPTATQAMQEFLTRLQVHLSSTCPQIFSEFLLKLIHILSTERGAFQTGQGPLDAQVKLLEFTLEQNFEVVSVSTISAVIESVTFLVHHYITCSDKVMSRSGSDSSVGARACFGGLFANLIRPGDAKAVCGEMTRDQLMFDLLKLVNILVQLPLSGNREYSARVSVTTNTTDSVSDEEKVSGGKDGNGSSTSVQGSPAYVADLVLANQQIMSQILSALGLCNSSAMAMIIGASGLHLTKHENFHGGLDAISVGDGLFTILTTLSKKASTVHMMLQPILTYMACGYMGRQGSLATCQLSEPLLWFILRVLDTSDALKAFHDMGGVQLICNNMVTSTRAIVNTARSMVSTIMKFLDSGPNKAVDSTLKTRILASEPDNAEGIHNFAPLGTITSSSPTAQPAEVLLQATPPHRRARSAAWSYIFLPEEAWCDLTIHLPAAVLLKEIHIQPHLASLATCPSSVSVEVSADGVNMLPLSTPVVTSGLTYIKIQLVKAEVASAVCLRLHRPRDASTLGLSQIKLLGLTAFGTTSSATVNNPFLPSEDQVSKTSIGWLRLLHHCLTHISDLEGMMASAAAPTANLLQTCAALLMSPYCGMHSPNIEVVLVKIGLQSTRIGLKLIDILLRNCAASGSDPTDLNSPLLFGRLNGLSSDSTIDILYQLGTTQDPGTKDRIQALLKWVSDSARVAAMKRSGRMNYMCPNSSTVEYGLLMPSPSHLHCVAAILWHSYELLVEYDLPALLDQELFELLFNWSMSLPCNMVLKKAVDSLLCSMCHVHPNYFSLLMGWMGITPPPVQCHHRLSMTDDSKKQDLSSSLTDDSKNAQAPLALTESHLATLASSSQSPEAIKQLLDSGLPSLLVRSLASFCFSHISSSESIAQSIDISQDKLRRHHVPQQCNKMPITADLVAPILRFLTEVGNSHIMKDWLGGSEVNPLWTALLFLLCHSGSTSGSHNLGAQQTSARSASLSSAATTGLTTQQRTAIENATVAFFLQCISCHPNNQKLMAQVLCELFQTSPQRGNLPTSGNISGFIRRLFLQLMLEDEKVTMFLQSPCPLYKGRINATSHVIQHPMYGAGHKFRTLHLPVSTTLSDVLDRVSDTPSITAKLISEQKDDKEKKNHEEKEKVKAENGFQDNYSVVVASGLKSQSKRAVSATPPRPPSRRGRTIPDKIGSTSGAEAANKIITVPVFHLFHKLLAGQPLPAEMTLAQLLTLLYDRKLPQGYRSIDLTVKLGSRVITDPSLSKTDSYKRLHPEKDHGDLLASCPEDEALTPGDECMDGILDESLLETCPIQSPLQVFAGMGGLALIAERLPMLYPEVIQQVSAPVVTSTTQEKPKDSDQFEWVTIEQSGELVYEAPETVAAEPPPIKSAVQTMSPIPAHSLAAFGLFLRLPGYAEVLLKERKHAQCLLRLVLGVTDDGEGSHILQSPSANVLPTLPFHVLRSLFSTTPLTTDDGVLLRRMALEIGALHLILVCLSALSHHSPRVPNSSVNQTEPQVSSSHNPTSTEEQQLYWAKGTGFGTGSTASGWDVEQALTKQRLEEEHVTCLLQVLASYINPVSSAVNGEAQSSHETRGQNSNALPSVLLELLSQSCLIPAMSSYLRNDS|eshraaqagvpwrdlckskvsnfviqrtleykftq* 03BR006 ENSG00000234678.2 ENSG00000243323.7 -/- +/- chr1:202000809 chr1:202171592 intron exon duplication/5'-5' 1 3 0 4 8 medium . . . . . ENSG00000234678.2 ENSG00000243323.7 . . upstream downstream . ATTTCCTTAGTCCCAGGATACACTTTGTGTGG___...GACGGAGTCTTGCTCTATCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGGTCGAGC|CCATCCAGCTGCCtCTTGGCACCACTGCCTTGTCTGGACTTGGCTGCGGAATCTGGAGGCGAGACAGGCCCCAGAGAGTGAGACCTCACCTGCCTCTGGATGCAGATGCCCCTGGGCAGGATACTGCCCTGCTCCCTACCAGCGGGGACTCACCGTCCAGCCAGGCACTGGCCTGGGCCCAGGCGTCATATGGCCCCGCTAGGACCTTCAGCTCC . 03BR006 ENSG00000132535.21 ENSG00000072818.12 -/- +/- chr17:7202903 chr17:7342086 CDS/splice-site intron duplication/5'-5' 0 4 0 204 8 medium out-of-frame . PDZ-associated_domain_of_NMDA_receptors(40%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Polyubiquitination_(PEST)_N-terminal_domain_of_MAGUK(100%)| . . ENSG00000132535.21 ENSG00000072818.12 ENST00000399506.9 . upstream downstream . ^(CCTCCTCTCTCCCCTTCCCTCTTCGGCTCCACGGCTCCCTCGGCCGCTGCCGTTTCCAACCCCCCCACCCCACTCCCCCGCCACGGCCCCTAGCCCCTGGCCGTTTGGCAAGACCCCCCCCTACCCCGGGGCTCCCCGAAATCCAGTTCCCCTCCCCCACCCCAGCTCATGCCCCAGCCCCCGAACTCCGGGGCTGCCAGCCCCCGGTGCCCCCGCCCCTCCTGAGAATCGGGGTGTGCTCCCCAAGCCCCCTCCCCTCCACTGGGGAGCCCCTTTTAGGGCCCCCTTCCCCTCCCTCCCACGCTCCCCTCCCCTTCCCTTCTCCAACCCCCTCCTTCCCCTCTCACCCCTCCCCCCATCCTGGCCCCCCCTGCAAAAGTGGGGTGCGGAGGGGGGAGGGGTGAGAACCCACGGAGGGGAGGAACGAAACTCCGATGAAGTCAGAGCCCCTTACCCGCCGCCGCGGCCAGGCCCCCCAACATGGACTGTCTCTGTATAGTGACAACCAAG___AAATACCGCTACCAAGATGAAGACACGCCCCCTCTGGAGCACAGCCCGGCCCACCTCCCCAACCAG___GCCAATTCTCCCCCAGTGATTGTCAACACAGATACCCTAGAAGCCCCAGGATAT___GAGTTGCAGGTGAACGGGACCGAGGGGGAGATGGAATACGAGGAAATCACATTGGAAAGG___GGTAACTCAGGTCTGGGCTTCAGCATCGCAGGTGGCACTGACAACCCACACATCGGTGACGACCCATCCATTTTCATCACCAAGATCATTCCTGGTGGGGCTGCGGCCCAGGATGGCCGCCTCAG___GGTCAACGACAGCATCCTGTTTGTAAATGAAGTGGACGTGCGCGAGGTGACCCACTCAGCGGCGGTGGAAGCCCTCAAAGAGGCAGGCTCCATCGTTCGCCTCTATGTCATGCGCCGGAAGCCCCCGGCTGAGAAGGTCATGGAGATCAAGCTCATCAAGGGGCCTAAAG___GTCTTGGCTTCAGCATCGCAGGGGGCGTAGGGAACCAGCACATCCCAGGAGATAATAGCATCTATGTAACAAAGATCATCGAAGGGGGTGCTGCCCACAAGGATGGGAGGTTGCAGATTGGAGACAAGATCCTGGCG___GTCAACAGTGTGGGGCTAGAGGACGTCATGCATGAAGATGCTGTGGCAGCCCTGAAGAA)CACGTATGATGTTGTCTACCTAAAGGTGGCCAAGCCCAGCAATGCCTACCTGAGTGACAGCTATGCTCCCCCAGACATCACAACCT|ATGCAGACCCTCCGCATACCGCCATCATGGGCTCcGGTGGACCCAGGCGGGCCAGGTCACAAATGCCGACAACGAAGGCGCGGCTGGCAGCAAG___TGCATAGAAGAAAACGCTGACGTATGCTGCCTTCTCTCTCTACTTCGGtTACCTAAAAGGGAAGGGCCCCCTGTCCTGTGATCAC MDCLCIVTTKKYRYQDEDTPPLEHSPAHLPNQANSPPVIVNTDTLEAPGYELQVNGTEGEMEYEEITLERGNSGLGFSIAGGTDNPHIGDDPSIFITKIIPGGAAAQDGRLRVNDSILFVNEVDVREVTHSAAVEALKEAGSIVRLYVMRRKPPAEKVMEIKLIKGPKGLGFSIAGGVGNQHIPGDNSIYVTKIIEGGAAHKDGRLQIGDKILAVNSVGLEDVMHEDAVAALKNTYDVVYLKVAKPSNAYLSDSYAPPDITT|yadpphtaimgsggprrarsqmpttkarlaasa* 03BR006 ENSG00000176393.11 ENSG00000243323.7 +/- +/- chr1:202000809 chr1:202171592 intron exon duplication 1 3 0 4 8 medium . . . . . ENSG00000176393.11 ENSG00000243323.7 . . upstream downstream . ATTTCCTTAGTCCCAGGATACACTTTGTGTGG___...GACGGAGTCTTGCTCTATCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGGTCGAGC|CCATCCAGCTGCCtCTTGGCACCACTGCCTTGTCTGGACTTGGCTGCGGAATCTGGAGGCGAGACAGGCCCCAGAGAGTGAGACCTCACCTGCCTCTGGATGCAGATGCCCCTGGGCAGGATACTGCCCTGCTCCCTACCAGCGGGGACTCACCGTCCAGCCAGGCACTGGCCTGGGCCCAGGCGTCATATGGCCCCGCTAGGACCTTCAGCTCC . 03BR006 ENSG00000141756.19 ENSG00000158089.15(16857),ENSG00000214711.10(17759) +/+ ./- chr17:41813279 chr2:31155297 CDS/splice-site intergenic translocation 0 4 0 119 7 medium out-of-frame . FKBP-type_peptidyl-prolyl_cis-trans_isomerase(100%)| . . ENSG00000141756.19 . ENST00000321562.9 . downstream downstream . ^(CTCACTGCCGGCGGTCCCAACTCCAGGCACCATGTTCCCCGCGGGCCCCCCCAGCCACAGCCTCCTCCGGCTCCCCCTGCTGCAGTTGCTGCTACTGGTGGTGCAGGCCGTGGGGAGGGGGCTGGGCCGCGCCAGCCCGGCCGGGGGCCCCCTGGAAGATGTGGTCATCGAGAGGTAC)CACATCCCCAGGGCCTGTCCCCGGGAAGTGCAGATGGGGGATTTTGTGCGCTACCACTACAACGGCACTTTTGAAGATGGCAAGAAGTTTGATTCAAG|GTCCTAAAATATTCTAAGAAAGTAAATTTTGCTGAAAAATGACTTCTGGAACAGACTTCAGGAAACAGATGGCTCTAGAGTACTATGTCGATGAGAATTTTGAAGACACAGTGTTTCAGAGAGCGAGATGGTGACTGCTGTGATTAG___AAATTTGAGAAGCAATTGGTGGTTGAACATGCAAT MFPAGPPSHSLLRLPLLQLLLLVVQAVGRGLGRASPAGGPLEDVVIERYHIPRACPREVQMGDFVRYHYNGTFEDGKKFDSr|s* 03BR006 ENSG00000173517.10 ENSG00000259213.1(41081),ENSG00000260139.6(65028) -/- ./- chr15:77420006 chr15:77829656 5'UTR/splice-site intergenic duplication 0 3 0 2 20 medium . . . . . ENSG00000173517.10 . ENST00000560626.6 . upstream downstream . ^(GGTGGACTCGGCCGCGGCGAGTAGTTAGTTAGTTGTTGTTAGTCAGTGTCAGTTGCTCGGCGGCGGCGGCCGTGGT)CACCAGGAAGGGGACGGGACGGACGGTGATGGTGGTCGCCGCGGCGGCGTGTGCGCCCCTCAG|GGGCGGACAGTGAGACCCAGAAAGTTTGGGTGATGCTTGGGCCTCATGGTGGGAAACCTTGGAGCTACAGGGAAGAAGAATTGAGCTAAAGCTTACAAAGGACTTGGCATCGTGCCCAGCATACAGAAGGTGCTCAATAAAGG . 03BR006 ENSG00000075711.21 ENSG00000161800.13(7712),ENSG00000110881.12(24342) -/- ./- chr3:197090912 chr12:50033206 CDS/splice-site intergenic translocation 0 3 0 12 7 medium out-of-frame . L27_1(100%),PDZ-associated_domain_of_NMDA_receptors(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Polyubiquitination_(PEST)_N-terminal_domain_of_MAGUK(100%),SH3_domain(100%)| . . ENSG00000075711.21 . ENST00000663148.1 . upstream downstream duplicates(1) ^(AGCTTCGGAGGGCGCGACTCCGG___GTGTGTGCCCTCTTCCTGATTCTGGAGAAAAATGCCGGTCCGGAAGCAAG___ATACCCAGAGAGCATTGCACCTTTTGGAGGAATATCGTTCAAAACTAAGCCAAACTGAAGACAGACAGCTCAGAAGTTCCATAGAACGGGTTATTAACATATTTCAGAGCAACCTCTTTCAGGCTTTAATAG___ATATTCAAGAATTTTATGAAGTGACCTTACTGGATAATCCAAAATGTATAGATCGTTCAAAGCCGTCTGAACCAATTCAACCTGTGAATACTTGGGAGATTTCCAGCCTTCCAAGCTCTACTGTGACTTCAGAGACACTGCCAAGCAGCCTTAGCCCTAGTGTAGAG___AAATACAGGTATCAGGATGAAGATACACCTCCTCAAGAGCATATTTCCCCACAAATCACAAATGAAGTGATAGGTCCAGAATTGGTTCATGTCTCAGAGAAGAACTTATCAGAGATTGAGAATGTCCATGGATTTGTTTCTCATTCTCATATTTCACCAATAAAG___GCAAATCCTCCCCCAGTACTGGTCAACACAGATAGCTTGGAAACACCAACTTAC___GTTAATGGCACAGATGCAGATTATGAATATGAAGAAATCACACTTGAAAGG___GGAAATTCAGGGCTTGGTTTCAGCATTGCAGGAGGTACGGACAACCCACACATTGGAGATGACTCAAGTATTTTCATTACCAAAATTATCACAGGGGGAGCAGCCGCCCAAGATGGAAGATTGCG___GGTCAATGACTGTATATTACGAGTAAATGAAGTAGATGTTCGTGATGTAACACATAGCAAAGCAGTTGAAGCGTTGAAAGAAGCAGGGTCTATTGTACGCTTGTATGTAAAAAGAAGGAAACCAGTGTCAGAAAAAATAATGGAAATAAAGCTCATTAAAGGTCCTAAAG___GTCTTGGGTTTAGCATTGCTGGAGGTGTTGGAAATCAGCATATTCCTGGGGATAATAGCATCTATGTAACCAAAATAATTGAAGGAGGTGCAGCACATAAGGATGGCAAACTTCAGATTGGAGATAAACTTTTAGCA___GTGAATAACGTATGTTTAGAAGAAGTTACTCATGAAGAAGCAGTAACTGCCTTAAAGAACACATCTGATTTTGTTTATTTGAAAGTGGCAAAACCCACAAGTATGTATATGAATGATGGCTATGCACCACCTGATATCACCAACT___CTTCTTCTCAGCCTGTTGATAACCATGTTAGCCCATCTTCCTTCTTGGGCCAGACACCAGCATCTCCAGCCAGATACTCCCCAGTTTCTAAAGCAGTACTTGGAGATGATGAAATTACAAG___GGAACCTAGAAAAGTTGTTCTTCATCGTGGCTCAACGGGCCTTGGTTTCAACATTGTAGGAGGAGAAGATGGAGAAGGAATATTTATTTCCTTTATCTTAGCCGGAGGACCTGCTGATCTAAGTGGAGAGCTCAGAAAAGGAGATCGTATTATATCG___GTAAACAGTGTTGACCTCAGAGCTGCTAGTCATGAGCAGGCAGCAGCTGCATTGAAAAATGCTGGCCAGGCTGTCACAATTGTTGCACAATATCGACCTGAAG___AATACAGTCGTTTTGAAGCTAAAAT)ACATGATTTACGGGAGCAGATGATGAATAGTAGTATTAGTTCAGGGTCAGGTTCTCTTCGAACTAGCCAGAAGCGATCCCTCTATGTCAG|GGGGAACGATAATCCTGGATGGGAGGTAGGGAGCCAGACCTCCAGAGGGCAAGTGAGAAGGCCATGGGAGGCGGAACCCAGCGAAGGCGAGAGAATGAAGACACGCATCGGGCTGTGGCCAGACGGTTGGCAGCCAGGGACCTAGCCAAGCCTCCCTGCCCCCGACGCCCGCGTCCAGGGATCGTCGATGACAGTTCGCCTGTCGGGACATCGGAT MPVRKQDTQRALHLLEEYRSKLSQTEDRQLRSSIERVINIFQSNLFQALIDIQEFYEVTLLDNPKCIDRSKPSEPIQPVNTWEISSLPSSTVTSETLPSSLSPSVEKYRYQDEDTPPQEHISPQITNEVIGPELVHVSEKNLSEIENVHGFVSHSHISPIKANPPPVLVNTDSLETPTYVNGTDADYEYEEITLERGNSGLGFSIAGGTDNPHIGDDSSIFITKIITGGAAAQDGRLRVNDCILRVNEVDVRDVTHSKAVEALKEAGSIVRLYVKRRKPVSEKIMEIKLIKGPKGLGFSIAGGVGNQHIPGDNSIYVTKIIEGGAAHKDGKLQIGDKLLAVNNVCLEEVTHEEAVTALKNTSDFVYLKVAKPTSMYMNDGYAPPDITNSSSQPVDNHVSPSSFLGQTPASPARYSPVSKAVLGDDEITREPRKVVLHRGSTGLGFNIVGGEDGEGIFISFILAGGPADLSGELRKGDRIISVNSVDLRAASHEQAAAALKNAGQAVTIVAQYRPEEYSRFEAKIHDLREQMMNSSISSGSGSLRTSQKRSLYVr|gndnpgwevgsqtsrgqvrrpweaepsegermktriglwpdgwqpgt* 03BR006 ENSG00000084234.17 ENSG00000134917.10(16511),ENSG00000166106.3(3854) +/+ ./+ chr11:130135715 chr11:130445120 CDS/splice-site intergenic deletion/read-through 2 1 0 136 8 medium out-of-frame . Amyloid_A4_N-terminal_heparin-binding(100%),Copper-binding_of_amyloid_precursor__CuBD(100%),E2_domain_of_amyloid_precursor_protein(100%),Kunitz/Bovine_pancreatic_trypsin_inhibitor_domain(100%)| . . ENSG00000084234.17 . ENST00000650012.1 . downstream upstream . ^(TGGAGGAGGGAG___ATGCTTCTGGGTCGCGGTGTGCTAAGCGAGGAGTCCGAGTGTGTGAGCTTGAGAGCCGCGCGCTAGAGCGACCCGGCGAGGGATGGCGGCCACCGGGACCGCGGCCGCCGCAGCCACGGGCAGGCTCCTGCTTCTGCTGCTGGTGGGGCTCACGGCGCCTGCCTTGGCGCTGGCCGGCTACATCGAG___GCTCTTGCAGCCAATGCCGGAACAGGATTTGCTGTTGCTGAGCCTCAAATCGCAATGTTTTGTGGGAAGTTAAATATGCATGTGAACATTCAGACTGGGAAATGGGAACCTGATCCAACAGGCACCAAGAGCTGCTTTGAAACAAAAGAAGAAGTTCTTCAGTACTGTCAGGAG___ATGTATCCAGAGCTACAGATCACAAATGTGATGGAGGCAAACCAGCGGGTTAGTATTGACAACTGGTGCCGGAGGGACAAAAAGCAATGCAAGAGTCGCTTTGTTACACCTTTCAAGTGTCTCG___TGGGTGAATTTGTAAGTGATGTCCTGCTAGTTCCAGAAAAGTGCCAGTTTTTCCACAAAGAGCGGATGGAGGTGTGTGAGAATCACCAGCACTGGCACACGGTAGTCAAAGAG___GCATGTCTGACTCAGGGAATGACCTTATATAGCTACGGCATGCTGCTCCCATGTGGGGTAGACCAGTTCCATGGCACTGAATATGTGTGCTGCCCTCAGACAAAGATTATTGGATCTGTGTCAAAAGAAGAGGAAGAGGAAGATGAAGAGGAAGAGGAAGAGGAAGATGAAGAGGAAGACTATGATGTTTATAAAAG___TGAATTTCCTACTGAAGCAGATCTGGAAGACTTCACAGAAGCAGCTGTGGATGAGGATGATGAGGATGAGGAAGAAGGGGAGGAAGTGGTGGAGGACCGAGATTACTACTATGACACCTTCAAAGGAGATGACTACAATGAGGAGAATCCTACTGAACCCGGCAGCGACGGCACCATGTCAGACAAGGAAATTACTCATGATGTCAAAG___CTGTCTGCTCCCAGGAGGCGATGACGGGGCCCTGCCGGGCCGTGATGCCTCGTTGGTACTTCGACCTCTCCAAGGGAAAGTGCGTGCGCTTTATATATGGTGGCTGCGGCGGCAACAGGAACAATTTTGAGTCTGAGGATTATTGTATGGCTGTGTGTAAAGCGATGA___TTCCTCCAACTCCTCTGCCAACCAATGATGTTGATGTGTATTTCGAGACCTCTGCAGATGATAATGAGCATGCTCGCTTCCAGAAGGCTAAGGAGCAGCTGGAGATTCGGCACCGCAACCGAATGGACAGG___GTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAG___CACTTCCAAGCCATGGTTAAAGCTTTAGAGAAGGAAGCAGCCAGTGAGAAGCAGCAGCTGGTGGAGACCCACCTGGCCCGAGTGGAAGCTATGCTGAATGACCGCCGTCGGATGGCTCTGGAGAACTACCTGGCTGCCTTGCAGTCTGACCCGCCACGG___CCTCATCGCATTCTCCAGGCCTTACGGCGTTATGTCCGTGCTGAGAACAAAGATCGCTTACATACCATCCGTCATTACCAGCATGTGTTGGCTGTTGACCCAGAAAAGGCGGCCCAGATGAAATCCCAG___GTGATGACACATC)TCCACGTGATTGAAGAAAGGAGGAACCAAAGCCTCTCTCTGCTCTACAAAGTACCTTATGTAGCCCAAGAAATTCAAGAGGAAATTG___ATGAGCTCCTTCAGGAGCAGCGTGCAGATATGGACCAGTTCACTGCCTCAATCTCAGAGACCCCTGTGGACGTCCGGGTGAGCTCTGAGGAGAGTGAGGAGATCCCACCGTTCCACCCCTTCCACCCCTTCCCAGCCCTACCTGAGAACGAAG|GGATGTTAAGATCATGGAGGGCAGGAGAAGCGAGAACTCCATGGCGGTTGTGGAGTCCCGTTATGGAAGTGGGACGTGGGAGCCAATGTGAAAGCTCCCGAGCAGAACTGGGAGAGGACACGCCCCAGAAAACTTCAGAAGGTGATGACAGCAATCAGCTTGGAGGGCCTAGCAGAGACTGATAGCACTAGG MAATGTAAAAATGRLLLLLLVGLTAPALALAGYIEALAANAGTGFAVAEPQIAMFCGKLNMHVNIQTGKWEPDPTGTKSCFETKEEVLQYCQEMYPELQITNVMEANQRVSIDNWCRRDKKQCKSRFVTPFKCLVGEFVSDVLLVPEKCQFFHKERMEVCENHQHWHTVVKEACLTQGMTLYSYGMLLPCGVDQFHGTEYVCCPQTKIIGSVSKEEEEEDEEEEEEEDEEEDYDVYKSEFPTEADLEDFTEAAVDEDDEDEEEGEEVVEDRDYYYDTFKGDDYNEENPTEPGSDGTMSDKEITHDVKAVCSQEAMTGPCRAVMPRWYFDLSKGKCVRFIYGGCGGNRNNFESEDYCMAVCKAMIPPTPLPTNDVDVYFETSADDNEHARFQKAKEQLEIRHRNRMDRVKKEWEEAELQAKNLPKAERQTLIQHFQAMVKALEKEAASEKQQLVETHLARVEAMLNDRRRMALENYLAALQSDPPRPHRILQALRRYVRAENKDRLHTIRHYQHVLAVDPEKAAQMKSQVMTHLHVIEERRNQSLSLLYKVPYVAQEIQEEIDELLQEQRADMDQFTASISETPVDVRVSSEESEEIPPFHPFHPFPALPENE|gmlrswrageartpwrlwspvmevgrgsqcessraelgedtpqktsegddsnqlggpsrd* 03BR006 ENSG00000175115.12 ENSG00000172543.8 +/+ +/+ chr11:66070842 chr11:65879785 CDS/splice-site 5'UTR duplication 0 3 0 5 14 medium in-frame . |Cathepsin_propeptide_inhibitor_domain_(I29)(100%),Papain_family_cysteine_protease(100%) . . ENSG00000175115.12 ENSG00000172543.8 ENST00000320580.9 ENST00000307886.8 downstream upstream . ^(ACCCGTGTCGGCCTCGCGAGCCGCAACAGGCAGCGGCGGTCGAGCGCGAGGCCCGCGCGCCCAGAGGCCCCGCGCGTGCGTGCAGCTCGCTGGCTGCTCGCGCTCGGGCAGGCGGGCTGAGGAGGCTGCCGCGCCCCCGCCGCCGCCGCCGCGGGGGAAGCCTGGGAGCCAGATCGGCGTCGCCTCGGCCTCCGTAACCCCCGCCTAGCCGGGCCATGGCGGAACGCGGAGGGGCGGGCGGTGGTCCCGGAGGCGCCGGGGGCGGCAGCGGCCAGCGGGGATCCGGGGTCGCCCAGTCCCCTCAGCAGCCGCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGCCGACGCCCCCCAAGCTGGCCCAGGCCACCTCGTCGTCCTCGTCCACCTCGGCGGCGGCTGCCTCCTCCTCGTCCTCGTCTACCTCCACCTCCATGGCCGTGGCGGTGGCCTCGGGCTCCGCGCCTCCCGGTGGCCCGGGGCCAGGCC)GCACCCCCGCCCCGGTGCAGATGAACCTGTACGCCACCTGGGAGGTGGACCGGAGCTCGTCCAGCTGCGTGCCTAG|CCCCACCCTCACACCGTCCTCCTCGATCTGCGCGGCTTCCTGCCTCCATGCCACTCCAGACTGCACCGGCATGGCACTGACTGCCCACCCCTCCTGCCTCCTG(GCCCTGTTGGTGGCAGGCCTAGCCCAAGGCATCAGAGGCCCCCTTAGGGCCCAG___GACCTAGGTCCCCAGCCGCTAGAGCTGAAAGAGGCCTTCAAGTTGTTCCAGATCCAGTTCAACCGGAGTTACCTGAGCCCAGAAG___AGCATGCTCACCGCCTGGACATCTTTGCCCACAACCTGGCCCAGGCTCAGAGGCTGCAGGAGGAGGACTTGGGCACAGCTGAGTTTGGGGTGACTCCATTCAGTGACCTCACAG___AGGAGGAGTTTGGCCAGCTCTATGGCTATCGGAGGGCAGCTGGAGGGGTCCCCAGCATGGGCAGAGAAATAAGGTCTGAAGAGCCAGAGGAGTCAGTACCTTTCAGCTGTGACTGGCGGAAGGTGGCCAGCGCCATCTCACCCATCAAGGACCAG___AAAAACTGCAACTGCTGCTGGGCCATGGCAGCGGCAGGCAACATAGAGACCCTGTGGCGCATCAGTTTCTGGGATTTTGTGGATGTCTCCGTGCAGG___AACTGCTGGACTGTGGCCGCTGTGGGGATGGCTGCCACGGTGGCTTCGTCTGGGACGCGTTCATAACTGTCCTCAACAACA___GCGGCCTGGCCAGTGAAAAGGACTACCCGTTCCAGGGCAAAGTCAGAGCCCACAGGTGCCACCCCAAGAAGTACCAGAAGGTGGCCTGGATCCAGGACTTCATCATGCTGCAGAACAACGAGCACA___GAATTGCGCAGTACCTGGCCACTTATGGCCCCATCACCGTGACCATCAACATGAAGCCCCTTCAG___CTATACCGGAAAGGTGTGATCAAGGCCACACCCACCACCTGTGACCCCCAGCTTGTGGACCACTCTGTCCTGCTGGTGGGTTTTGGCAGCGTCAAGTCAGAGGAGGGGATATGGGCAGAGACAGTCTCATCGCAGTCTCAGCCTCAGCCTCCACACCCCACCCCATACTGGATCCTGAAGAACTCCTGGGGGGCCCAATGGGGAGAGAAG___GGCTATTTCCGGCTGCACCGAGGGAGCAATACCTGTGGCATCACCAAGTTCCCGCTCACTGCCCGTGTGCAGAAACCGGATATGAAGCCCCGAGTCTCCTGCCCTCCCTGAACCCACCTGGCCCCCTCAGCTCTGTCCTGTTAGGCCAACTGCCTCCTTGCCAGCCCCACCCCCAGGTTTTTGCCCATCCTCCCAATCTCAATACAGCCTGAATAAACCAAGACAAGACCTCTG)$ MAERGGAGGGPGGAGGGSGQRGSGVAQSPQQPPPQQQQQQPPQQPTPPKLAQATSSSSSTSAAAASSSSSSTSTSMAVAVASGSAPPGGPGPGRTPAPVQMNLYATWEVDRSSSSCVPs|ptltpsssicaasclhatpdctgMALTAHPSCLLALLVAGLAQGIRGPLRAQDLGPQPLELKEAFKLFQIQFNRSYLSPEEHAHRLDIFAHNLAQAQRLQEEDLGTAEFGVTPFSDLTEEEFGQLYGYRRAAGGVPSMGREIRSEEPEESVPFSCDWRKVASAISPIKDQKNCNCCWAMAAAGNIETLWRISFWDFVDVSVQELLDCGRCGDGCHGGFVWDAFITVLNNSGLASEKDYPFQGKVRAHRCHPKKYQKVAWIQDFIMLQNNEHRIAQYLATYGPITVTINMKPLQLYRKGVIKATPTTCDPQLVDHSVLLVGFGSVKSEEGIWAETVSSQSQPQPPHPTPYWILKNSWGAQWGEKGYFRLHRGSNTCGITKFPLTARVQKPDMKPRVSCPP* 03BR006 ENSG00000084234.17 ENSG00000175773.13 +/+ +/+ chr11:130135715 chr11:130393495 CDS/splice-site exon/splice-site deletion/read-through 1 2 0 136 15 medium out-of-frame . Amyloid_A4_N-terminal_heparin-binding(100%),Copper-binding_of_amyloid_precursor__CuBD(100%),E2_domain_of_amyloid_precursor_protein(100%),Kunitz/Bovine_pancreatic_trypsin_inhibitor_domain(100%)| . . ENSG00000084234.17 ENSG00000175773.13 ENST00000650012.1 ENST00000602376.5 downstream upstream . ^(TGGAGGAGGGAG___ATGCTTCTGGGTCGCGGTGTGCTAAGCGAGGAGTCCGAGTGTGTGAGCTTGAGAGCCGCGCGCTAGAGCGACCCGGCGAGGGATGGCGGCCACCGGGACCGCGGCCGCCGCAGCCACGGGCAGGCTCCTGCTTCTGCTGCTGGTGGGGCTCACGGCGCCTGCCTTGGCGCTGGCCGGCTACATCGAG___GCTCTTGCAGCCAATGCCGGAACAGGATTTGCTGTTGCTGAGCCTCAAATCGCAATGTTTTGTGGGAAGTTAAATATGCATGTGAACATTCAGACTGGGAAATGGGAACCTGATCCAACAGGCACCAAGAGCTGCTTTGAAACAAAAGAAGAAGTTCTTCAGTACTGTCAGGAG___ATGTATCCAGAGCTACAGATCACAAATGTGATGGAGGCAAACCAGCGGGTTAGTATTGACAACTGGTGCCGGAGGGACAAAAAGCAATGCAAGAGTCGCTTTGTTACACCTTTCAAGTGTCTCG___TGGGTGAATTTGTAAGTGATGTCCTGCTAGTTCCAGAAAAGTGCCAGTTTTTCCACAAAGAGCGGATGGAGGTGTGTGAGAATCACCAGCACTGGCACACGGTAGTCAAAGAG___GCATGTCTGACTCAGGGAATGACCTTATATAGCTACGGCATGCTGCTCCCATGTGGGGTAGACCAGTTCCATGGCACTGAATATGTGTGCTGCCCTCAGACAAAGATTATTGGATCTGTGTCAAAAGAAGAGGAAGAGGAAGATGAAGAGGAAGAGGAAGAGGAAGATGAAGAGGAAGACTATGATGTTTATAAAAG___TGAATTTCCTACTGAAGCAGATCTGGAAGACTTCACAGAAGCAGCTGTGGATGAGGATGATGAGGATGAGGAAGAAGGGGAGGAAGTGGTGGAGGACCGAGATTACTACTATGACACCTTCAAAGGAGATGACTACAATGAGGAGAATCCTACTGAACCCGGCAGCGACGGCACCATGTCAGACAAGGAAATTACTCATGATGTCAAAG___CTGTCTGCTCCCAGGAGGCGATGACGGGGCCCTGCCGGGCCGTGATGCCTCGTTGGTACTTCGACCTCTCCAAGGGAAAGTGCGTGCGCTTTATATATGGTGGCTGCGGCGGCAACAGGAACAATTTTGAGTCTGAGGATTATTGTATGGCTGTGTGTAAAGCGATGA___TTCCTCCAACTCCTCTGCCAACCAATGATGTTGATGTGTATTTCGAGACCTCTGCAGATGATAATGAGCATGCTCGCTTCCAGAAGGCTAAGGAGCAGCTGGAGATTCGGCACCGCAACCGAATGGACAGG___GTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAG___CACTTCCAAGCCATGGTTAAAGCTTTAGAGAAGGAAGCAGCCAGTGAGAAGCAGCAGCTGGTGGAGACCCACCTGGCCCGAGTGGAAGCTATGCTGAATGACCGCCGTCGGATGGCTCTGGAGAACTACCTGGCTGCCTTGCAGTCTGACCCGCCACGG___CCTCATCGCATTCTCCAGGCCTTACGGCGTTATGTCCGTGCTGAGAACAAAGATCGCTTACATACCATCCGTCATTACCAGCATGTGTTGGCTGTTGACCCAGAAAAGGCGGCCCAGATGAAATCCCAG___GTGATGACACATCTCCACGTGATTGAAGAAAGGAGGAACCAAAGCCTCTCTCTGCTCTACAAAGTACCTTATGTAGCCCAAGAAATTCAAGAGGAAATTG___)ATGAGCTCCTTCAGGAGCAGCGTGCAGATATGGACCAGTTCACTGCCTCAATCTCAGAGACCCCTGTGGACGTCCGGGTGAGCTCTGAGGAGAGTGAGGAGATCCCACCGTTCCACCCCTTCCACCCCTTCCCAGCCCTACCTGAGAACGAAG|GCTTAGGACTCAGAGGAGAGAGGAGTGTGGTCTACACTGCACATCTCTGCCAAGCCTGGCACGGGATTTGAAGTTCCACACCACTGAGCCAAACACATCCAG(___ACCCTCTTCCAACCCGGGGATCTGGTGGTAAGCAAAATACTATTCCAGCAAGTGATGCCCCCAGTCTCCTAAGGATATAAG___AAACAGGAAGTTGTGTTTGGCTGCGGACAAACTCTCTCAGTGCCCCTGGGACTTACAAGATGTTTGGAATGAGGAACG___CTCTCCCAATGCGAGCTCAGCGGAGGCCCCCAGAAAAACGTGGGGAGGAGAGTTTTCCCCATAAGACAGACTGTCCTTCAGCCCCGGCCACCAAAGAGGAGTAACCCGGGCCTGCTGTTCTCTGGGACTGAATGCGGCTGCATCCTTCCCTTCCTCTGCTTCCTGTCCCGGTACTTACTGACGGTGCACATGCGGGGCTTGGGGAAGCTGAGTGTCTAACCGCGGTGCAGCTACGGATGGGAAATTCTGGGCAGGGACGAGCCTGTCTTCACCTGAGGAATTCCCTCCCACATCACACAGGGCAGAGTGGGAGTGGAGGAGGGCAGAGGACACGTCTCAGGGCCAGTAACCTAGGCTTATAGAAGACGTCATCACCGTCCTCATGATGTTCACCCCGTCTCCTGTTTTTTGGGGCCATGTGTTCCGAAATGTAGCTTCAACTCATCATAGGGGCAAAAAGAAGTGATGAGTCTGTGGCAGCAGAAATCTGGGAATCCAAGGGTCGTGCTACATCTAGTCCTCTTTGATAAATTCTGCCTTCCTGTTCACATTTTTCGAGAAACCATTTTGAATTCCCAAACAGCAAAGGAAATGCTGCAGGTTCCTGGAGGGACCTGGTGATCTGGGGCAGAGCACACGGAGTCGAGATTGCTGCGGGGTTCACGAGCCTCCCCTCCTGGGACCAGGGGCACCTGGGCAGGGTAGTCTGCACCACGCAGGAAAGCCCAGTACACGCAGCTGCTCAACGCTGCAGACGCCATAGCGCAGGGCTGACAAGGCCTCCCTCTTTATCTGCCCTGGACCACAAGTGGAAAATATCAAGACAAAGCAAAAGCCAGTATCCCTTAAGAACTTTCCAATTGTTCTTGTCATTTGTAGTTTTGTTTTTTGGGGGGTGTGGGGAGGGAGGGGTGGTTTGAAACAACTCCGGAGCACACTCCAGAGGAAAACAGGAAGGGTGACATGTTTGGACACCAGAAAAGAGGAAGAGTCCTCACTAAGAGGGTGACTTGGTTAAAAAGTTCAAGCACAAAGGATGTAGAAGCAGGTGGATGTCATCAGAGAACAGATGCGGATCTAGTGAGATGGGTCCTACCACCCCTGGAATATGTTCCTGGGAGAGGGGTGGTCTGCTAGAGTGGACTGGGAATAGTAATATTGCATACTTTTGTAAATTCACAAAACCCTCTGATCTGTGATAGAGGAATAAAGGGCAGAGGATAAACCCCA)$ MAATGTAAAAATGRLLLLLLVGLTAPALALAGYIEALAANAGTGFAVAEPQIAMFCGKLNMHVNIQTGKWEPDPTGTKSCFETKEEVLQYCQEMYPELQITNVMEANQRVSIDNWCRRDKKQCKSRFVTPFKCLVGEFVSDVLLVPEKCQFFHKERMEVCENHQHWHTVVKEACLTQGMTLYSYGMLLPCGVDQFHGTEYVCCPQTKIIGSVSKEEEEEDEEEEEEEDEEEDYDVYKSEFPTEADLEDFTEAAVDEDDEDEEEGEEVVEDRDYYYDTFKGDDYNEENPTEPGSDGTMSDKEITHDVKAVCSQEAMTGPCRAVMPRWYFDLSKGKCVRFIYGGCGGNRNNFESEDYCMAVCKAMIPPTPLPTNDVDVYFETSADDNEHARFQKAKEQLEIRHRNRMDRVKKEWEEAELQAKNLPKAERQTLIQHFQAMVKALEKEAASEKQQLVETHLARVEAMLNDRRRMALENYLAALQSDPPRPHRILQALRRYVRAENKDRLHTIRHYQHVLAVDPEKAAQMKSQVMTHLHVIEERRNQSLSLLYKVPYVAQEIQEEIDELLQEQRADMDQFTASISETPVDVRVSSEESEEIPPFHPFHPFPALPENE|glglrgersvvytahlcqawhgi* 03BR006 ENSG00000146433.8 ENSG00000272047.3 +/+ +/+ chr6:158585425 chr6:158191977 CDS/splice-site CDS/splice-site duplication 1 1 0 5 403 medium out-of-frame . . . . ENSG00000146433.8 ENSG00000272047.3 ENST00000367090.3 ENST00000607778.2 downstream upstream . ^(CGCGGAGGCGGATGGGCGCGGCTCCCTCCCCCACTCAGGCCTCTTCACGGGGCGGGGGGCCGGGTCCCCCAGCCCCCACCCGCGCCGTGTCCAGCTCCTCGCGTGCTCGCGGCGGAGCCCTGAGCGCACTGGGTCCGAGTCCTGCGCGCCCCCTCACCACCTCCCCCGCACCTGCTCCTCCTCCTCGGTCCCGCCCAGCGCGCCAGCAGCCCGATCCCCAGTGCTGGGAGAAGAGAGGGGGCGCAGGCGGCGACACAAAGGGTGGAGCGGCGGGACCGGGACCCGGGAGGCTGCGCGGCATGGACGCCGAGTACCCTGCCTTTGAGCCCCCGCTCTGCAGCGAGCTCAAGCACCTGTGCCGGCGGCTGCGGGAAGCGTACCGCGAGCTCAAGGAGGACCTCACGCCCTTCAAGGATGACCGCTACTACAG___GCTGGCGCCCATGCGGCTCTACACGCTCTCCAAGCGCCACTTTGTCCTCGTGTTTGTCGTCTTCTTCATCTGCTTTGGCCTGACCATCTTCGTTGGGATCAGAG___GACCTAAAGTGATCCAGACTTCTGCGGCTAATTTTTCACTAAATAATAGCAAAAAG___CTAAAGCCAATTCAAATACTTTCAAATCCACTGTCTACATACAATCAGCAACTATGGCTGACATGTGTTGT)TGAGTTGGATCAATCAAAAG___AAACTTCTATTAAGACAAGCTTTCCCATGACTGTTAAAGTCGATGGTGTAGCTCAAGATGGAACCACGATGTACATTCATAACAAAGTTCACAACCGGACAAGGACCCTCACATGTGCAGGG|TGATCCTGCCATGAAGCAGTTTCTGCTGTACTTGGATGAGTCCAATGCCCTGGGGAAGAAGTTCATCATTCAAGACATTGATGACACTCACGTCTTTGTAATAGCAGAATTGGTTAATGTCCTCCAGGAGCGAGTGGGTGAATTAATG(GACCAAAATGCTTTTTCCCTTACCCAGAAATGAAAATACTCAATATGGACCATTTAGGAATTATAAGCAGCAACTGTGAAAGACTTGCCACTCAATATCTTAGGTGACTGATTAGACATAGAGGGTTGTTTTAGGAGCATGCCACGGGAAAGACTGAGGGATCATGATCATTTGTTCAGAAAAAAAGCCCCTGAACTGATTTTGTTACCATAGAATTTAAAAAAAAAAAAAGCTTTAACAGTTGGCTGTAATTTGGCTTTTATTATCCTTTATTAAAATACAAATGTCAATGCTTTTCCTGCCTTTTTAATACCATGTCAGTGTAACATAGGTATTTATTTTGCTCATCCCTGTGATCTGTGCATTTTTGCTGCGTGGATGTGATTGTTTGGTTTCAGTTAGAAACGTCATAGATTTGCTGTTTGAATATGCCAAGGTGGGGACTTAGACATTATGTACGTCTCACAAATCCTACCTGCATACCAGTCAGCTCTATTGAGGAAGACAATGTAAAACTAATGTAAACTACAGTTTGCATTTCCCTGAAAACAGAATATTGTTTTTAAGAGGGTTAGAAACAACCAGTGGGAAAGGCACATGCTGCTTTGTTTAGTTTTTCCTTGTTCAAACTTTGTTGGTCACATTTTCCCATCTGTATTCTTTTTTATTAAGAAAACAGCTTAGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTCCGAGGTTGCTACAAAAACACCATTGCACTCTGGCCTGGACAACAGAGAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTCTACTTGTACCTTATTCCCTATGAGAATACTTATCAAACTTATCTAAAAAAGAAAAATAGGAACAGCCATATGCAAAGTCAGCCCAACAGGAAAGGACATATTAGATTAAAATACATTGCGGCCTGGGCTTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCGCTTGAGTCCAGGAGTCGAAACCCTGTCTCTACAAAAAAAAAAATACAAAAATCTGCCTGTTGTCCCAGCCACTGGGGAGGCTGAGGTAGGAGGTCAAGGCTGCAGTGAACCTTGATCATTGCTACTGCCACTCCAGCCTAGGTGACAGAGTGAGACCCTGTCTCCAAAAAAAAAAGTGTATATGTATGTGTGTATATATAGCAAGAGAGAGTTCTGTGATCAATTGAAGGCAAAAACAGTAACACTGAGAGGGGCTTTGCTTCCCTTCCTGAAGATCATGTCATTGGGGTGGGTTCCTGTAAAGGGAATTTTCCAAGAGAAAAGAGAATTTTCATGACCTGTAGACTCTTACAAATCCATTTTACCTGCTTCCTTATGGTATGTTTATTCAAAGCACCTGTGTACCATATTTATTCACTTACACAGCATTACTGAATCTGGAAATTTTCAGTTAGGTATATTTTACATAATTCCCACCCATATAACTCAGTCCATACAGTTCACAGTTTTCATTCCCTCATAGCAATGCAAAAAATTTTGATGAGTTACTACTACTAAAACTAGTTAAGTAAAAGATGATTCTTAAGAATTTCCAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGCTCACGAGGTCAGGAGATCGAGACCATCCTGCTCGGTGAAACCCCATCTCTATTAAAAATACAAAAAATTAGCCGGGCCTGGTGGCGGGTGCCTGTAGTCCCATCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTAAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAATTTCCAGCTATACCAAAATGTTACTAATGTATCTTATATTTCAGGCATGTCTAAATCAACTTTTAGTATGCCTCAGGCATTTGTCACCAACCTTTTATATTAACATGAAACTTAGAAAATTTTTGATAGAATCCCAGAGTTCAAAAGGTATTAGGATTTTTGCCACTGAAGTAAAAAAGAGAAAAAAAGATATTTATGAGAAAACTATTGAACAGTGACTGTGTTGTACCCGAGCAAGTTAGAGGAACGCCACACTTTGAGACGAATTTAAAAGTCCTTTATTTAGCTGGCAGCCAAGAGGTGGCTCACACTTGGAATTCTCTCAGCTCCGAGGAAGGGGCTTGATTTTCCTTTATACTTTGGTTTAGGAAGGGGACGGGAGCTCAGTTGCAACAATTCTACAGAAGTAAAAACATGCAAAAAATTAAAAAGACAAATGGTTACAGAGAAACAAACAGTTCCAGGTGCAGGGGCTCTAAATCTATCATAAGATGTCAGGTGTGGGGGCTCTGCCAGACACAAACTCAAGGCTTTATGGTGTATCTCTTGAGCGAAATCCTGGGAACTTCGTACATTGCTTGCTTCAGTACCTTATGAGTTAATTGGACTCTTTGATATGTTGAGAGTCAGCTTACACAAGTTAACTCCTTGAGGAAAGGGGGTGGGTAAGGAGTCCTTGATGTCCTGTAAATGAAGGAACCAAATGGAGTTCCTCCGGCTTTCTCAGCTAAGGGAGAGCTTATTCACATGGAAACAAGGCTAGGTGATTAAGGGAGAAAGGGACAGTCTGAAAACAAGGTTAGTAAAAACAAGGTTAGGTATTAGAACTGCAAAGAGTATTAAGTGAAATAAGTGAAGGAAAATATGAGCTCTTATTTTTAAAAAGTTGTGTTGGGGCAAATGTTAAATATCTTTCTTTCTCTGGACATTATTAAGAAAGATAGAGTGATGTGAATGATAGGAAGCCCACCTGTAACCACTTAGCTGACATGTCCAACTATGGGTGAACAGGAAATAAGCGACATTCACCTAGGCTGTTTATTGGAATCTGACTAGCATTATTTGATTTGGCATACTTTACATGTCCAGAACAAGGCTGTTGGTGCTTGGCACCAAGAAATTTATGACTTTTTTTTTTTTTTTAAATAAAGTCCTAAAGGTAGCATTAAAATGACTTAACTGGAGGCAGGAGGATCACTGAAGCCCAGGAGTTTGAAGCTGCAGTAAGCTAAGAAGGTGCCACTGCACTGCAGCCTGGATGACAGAGTGAAACTTTGTCTCTTAATAGAACTATGGACTGAAGTTGTGATATTGAGTGTTATATTTCTCAATAAAGGTTTTTTCTTTTAATACTGTATTAGGTCAAATTCAAGGTCTTAATTCCTTGAATTCCAATTTCCTTGTGAAATTTCATGTGATTAATTTAAAATTCCAGGGATCCTATCTAACATCACAGTTGATGGATATAACAATGTATTTTGAGAAATCAGTTTTGGTGAACAGTAACAGCATTACTGATAATAGGCAACAAACACTACTGCATTTTATTTCTGATAGGCATTATAGGTGGTAATCCAAATGATTAATGATTTTATTGCTCTTTACATTTTCTAGAACAGGTGATTTGACATAATTGTACTTTTTTCTGAGAAGTTGGTAGTGTACTTACTACTCTATTTTGCAGTTATACAATAAATCTTACTTAGCTGACAACTAGGAGTAAAAGCTCTGACAAAAAGCCTCTGCTGTAACTAAAATACTGAGATCATTCTATCTTAACAAACTTAACAGATGGGGAAGGGGTATATTTTAAAGATGGAGAAATGATGCAGTTTGCAAATATAGTCAATAAATATTCTCAAGTGTACGTAGCTCAATTTCATTTGCAGCAAAGATAACACTGAAATGTCTATGGATGAGATTATTGGATAAACTTTTTTAAAAACACTGTTCTCAAGATAGGCAAGTGATTAAGAGCACTGACTGGGCCGGGCGCGGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAAATCACAAGGTCAGGAGATCAAAACAATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGTGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTAATCCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCGGGGTGACAGAGCGAGACTCCCACCCATCTCAAAAAAAATAAAAATGAAAAGCACTGATTGAATCTAGATTCCTTGAGTCCAAGTGTCAGATCTCTGCTTACTAGCTCTGGGATCTCAGATGTTTCGTTGATTGGATTTCTTTGTGCTCATTTGTGTAAACAGGAATGCCCGTCTTTAAAGACTATTAAAATGAATGTGAGTTAACACACAAGAGGTCTTCAAAAAGTTGATGGAAAATGCATATTATGAAAAAAATTATGCATAGATTTCAAAAATCTTTGCAGCAAAATAAACTCATCATTATAACATGTCTGAACAGGATCTAGTTTGAGGCACTAAGAAGGATATCAGTTTAAATAGAGCCCCTGTCAGAACAATATGAATTCTGCTAAAACTGAAGCAAGAACAAACATCAAATTTATGGCAAAGCTTAGGTGGAAGAATGGTGCAATCATTGATGCTTTGCAAAAAGTTTATGGGAACAACGCCCCAAGGAAATCAGTTTACAAATGGATAATTCATTTTAAGAAAGGACAAGACAATGTTGAAGATGAAACCTACAGCAGCAGACCATGCCACTTCGTGAGGAAAAAATTATCTCATTCATGCCCTACTTGAAGAGGACCAATGATTAACAGCAGAAACGATAGCCAACACAATATGCTCCTCAGTTGGTTCAGCTTTTATAAATCTGACTGAAAAATTAAAGTTGAGCACACTTTCCACTCAATGGATACCAAAACCATCCAGCCCAGGTCAGCTGCAGACAAAAGCAGAGCTTTCGATGGAAATGTCAAACAAGTGAGATCAAGATCCTGAAGCATTTCTTCAAAGAATTGTAGCAAAAACAGACTTTTAAAACCTTGAATTCAGAGACAGGTATAAAGACTGCTTGGTGATTTTGAAAGGACTGAGATCATTTTGGGAGAGATCATCTTCAGAAAATGACCAGATACAACAAGAATTTAACATGGCAGCCAAACCAACCCACTAACACACATTTAAATAAGATACCCAAATGCAGAAAGAAAAGCACAGTCGTCATGCAAAATAGTCACTACTCATTCAAAAACTCTATAGTTGTCTGAGTCGTTATGCTCAAAATATCCAATAATATTTCTTTTGCTGAGCTGTAAAATAATTATTTTGCAAACATAAAAGAAAAAAAAAAGAATTGTAACAGAAACATGGCTTTACCAGTATGACCCTCAAGACAAAATACAAAACAATGGCTACCAAGAGGTGGAAGTGGCCCAGTCACAGCAAGAGCAGATTGATCAAGAGCAAAGGTCATGGTAACAGTTTTTTGGATCCTCAAGTCATTTTGCTTGTTGACTTTTTGGAGGGCCAAATAAAGATATCATCTGCTTATTATGAGAGTGTTTCGAGAGAAATCCAAAGCTTAGCAGAGAAACGCCTGGGAAAGCTTCACCAGAGGGTCTTCCACCGTGACAGTTCCCCTGCGCATTCCTCTCATAAAGCAAGGGCAGTTTAGCTAGAATTTCTATCAAAAATCATTAGGTATCCATCTCCCAGTCCTGATTTGGCTCCTTCTGACTTCTTTTTGTTTCCCAATCTTAAAAAAATCCCTGAAGGGCACCTGTTTTTCTTCAGCTAATAAAAAAGACATGGTTAATTTCCCAGGACCCTCAGTTCTTTAGGGATAGACTGAATGGCTGGTATCATTGCTTGAACTTAATGGAGCTTATGTTGAGAAATAAAAGAAATTATATTTTATTTTTATCTTTTAATTCTATTTTTCCATGAACTTTTTGAAGTCCCCTCAGATATAAAGCAGAACGTTATGAAACTGAGTTACCTTGAATCTAGAAGAGTACAATGATAAAGGGGAAGATAGAAACACACACATATGCGTTGTTTTCCCCACTTTCACAATGCCGTGCAGAAACTAACAGATGAAGGAGGAGAATCCCTAAAAACAGAGCATTGGGTAGCTAGTCCACCAGCGGTCTGATGCTTTCATTGATCTCAAAACTGTCTCTGAGTAACTCTACCAGGAAAGTTGTCTGGAGGGTTAACATTTCTGAAACCATTTTTATCTTTGCCTTCATTCTTGAATGATAATTAGTCTCGAATGTTTGGATCACAATCCATTGAAAGACTAGGCTATTTTTTCACTGTCCTCAGACATTTACTGAGTCCAGTTTGGACTTTATTTTATTTTATTTTTTTTGAAACAAGATCTCGCTCTGTTGCTCAGGCTGAAGTGCAATAGCGCAAACTCGGCTCACTGCAACCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCATCCCTATAGGCATGCGCCACCACACTTTGCTAATCTTGTATTTTTGGTAGAGACGGGGTTTGCACCATGTTGGCCAGGCTGGTCTCGAACTCCCAACCTCAAGTAATCTGGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCAGCGCGCCCGGCCTGGACTTAACTTCTGAAGAACTCTTTCTGTTTAGATTGCAGGAGCGTTCTCTCGGCTCATCTCTTGTTTTCTCACCCAGCTGTTCTTCTTCTAGTTGGCCATCATTCTTCATCCCTCCCTCCCTTTCCTGCAGTTAATTATTTCTTTGAAATTTTAAAACTTCTTAATGTTGCCTGGAATACATGAGTCTTCCTGATCTCTTCAAACGGGGTTTGTTTTGTTTTGCTTTGGGGAGAATTCTTTTGACGTTTTTGAATAAGCTGTTAACAACTTTAATACCTGTCTTGTTTGTTTTCTTCAGAAATTTGTTAATTCTCCATGATTAGCACCTTTATGTGGTTATCTCATTATTTTCATTCCTTTTTAATTCTCTGTTTTAGGAATGCTTGTCAAATTCGTCACTAAAATTGATTTACTTTCTTGAAAACCTGTTTCTGCTGCTCCCAACATGATTTAATCTTGGCTACTGAGCTTTTGGTTACGTTGCACTCCCTTTAAAATTACTCCGTTTAAGTACAGTGTTCACTCTTTGGGTAATGTGTACAATAGAAGCCCAATCCCCACCTATACCCAATATATCCATGGGACAAGCATGTACATGCACCCCCTGAGTCTAAAATAAAAATTTTAAAAAAACTA)$ MGAAPSPTQASSRGGGPGPPAPTRAVSSSSRARGGALSALGPSPARPLTTSPAPAPPPRSRPARQQPDPQCWEKRGGAGGDTKGGAAGPGPGRLRGMDAEYPAFEPPLCSELKHLCRRLREAYRELKEDLTPFKDDRYYRLAPMRLYTLSKRHFVLVFVVFFICFGLTIFVGIRGPKVIQTSAANFSLNNSKKLKPIQILSNPLSTYNQQLWLTCVVELDQSKETSIKTSFPMTVKVDGVAQDGTTMYIHNKVHNRTRTLTCAG|* 03BR006 ENSG00000173517.10 ENSG00000259213.1(53231),ENSG00000260139.6(52878) -/- ./- chr15:77420006 chr15:77841806 5'UTR/splice-site intergenic duplication 0 2 0 2 4 medium . . . . . ENSG00000173517.10 . ENST00000560626.6 . upstream downstream . ^(GGTGGACTCGGCCGCGGCGAGTAGTTAGTTAGTTGTTGTTAGTCAGTGTCAGTTGCTCGGCGGCGGCGGC)CGTGGTCACCAGGAAGGGGACGGGACGGACGGTGATGGTGGTCGCCGCGGCGGCGTGTGCGCCCCTCAG|GTAACCTGATGAATCTTCTTGGTGTGAAACTTGTCCATATTACGGATTGTGTCCTTAGGAAAGACCCCAGAAAGGAATGGCAAG___GGGCGGACAGTGAGACCCAGAAAGTTTGGGTGATGCTTGGGCCTCATGGTGGGAAACCTTGGAGCTACAGGGAAGAAGAATTGAGCTAAAGCTTACAAAGGACTTGGCATCGTGCC . 03BR006 ENSG00000285304.1 ENSG00000128340.15(29151),ENSG00000100055.21(8876) +/+ ./+ chr22:37650725 chr22:37273599 CDS/splice-site intergenic duplication 0 2 0 184 7 medium out-of-frame . . . . ENSG00000285304.1 . ENST00000451997.6 . downstream upstream duplicates(1) ^(GCAAGAGCCGCGCCGCAGGAGAGGCAGGCTGGACCGGGGGCTCCCCGGGCCCGCGACCCCCGCCGTGACCCCGCAGCCCCCAGCTCGCCCCCAAGATGATGAAGAGGCAGCTGCACCGCATGCGGCAGCTGGCCCAGACGGGCAGCTTGGGACG___GTAGAACAGCGGCTGGAGCCGGCCAAGCGGGCAGCCCACAACATCCACAAGCGGCTGCAGGCCTGTCTGCAGGGCCAGAGCGGGGCAGACATGGACAAGCGGGTG___AAGAAGCTTCCCCTCATGGCTCTGTCCACCACGATGGCTGAGAGCTTCAAGGAGCTGGACCCTGATTCCAGCATGGG___GAAGGCCTTGGAGATGAGCTGTGCCATCCAGAATCAGCTGGCCCGCATCCTGGCCGAGTTTGAGATGACCCTGGAGAGGGACGTCCTGCAGCCACTCAGCAGGCTGAGTGAG___GAGGAGCTGCCAGCCATCCTCAAACACAAGAAAAGCCTCCAGAAGCTCGTGTCCGACTGGAACACACTCAAGAGCAG___GCTCAGTCAGGCAACCAAGAATTCAGGCAGCAGTCAAGGCCTAGGAGGCAGCCCGGGTAGTCACAGCCATACGACCATGGCCAACAAGGTGGAGACGCTGAAGGAGGAGGAGGAGGAGCTGAAGAGGAAAGTGGAGCAATGCAGG___GACGAGTACTTGGCTGACCTGTACCACTTTGTTACCAAGGAGGACTCCTATGCCAACTACTTCATTCGT___CTCCTGGAGATTCAGGCCGATTACCATCGCAGGTCACTGAGCTCGCTGGACACAGCCCTGGCTGAGCTGAGGGAGAACCACGGCCAAGCAG___ACCACTCCCCTTCGATGACAGCCACCCACTTCCCCAGGGTGTATGGGGTGTCGCTGGCAACCCACCTGCAAGAGCTGGGCCGGGAGATTGCCCTGCCCATCGAGGCCTGCGTCATGATGCTGCTTTCTGAGGGCATGAAGGAAGAG___GGTCTCTTCCGTCTGGCTGCTGGGGCCTCGGTGCTGAAGCGTCTCAAGCAGACAATGGCCTCGGACCCCCACAGCCTGGAGGAGTTCTGCTCCGACCCGCACGCTGTGGCAG___GTGCCCTCAAGTCCTATCTGCGGGAGCTGCCAGAGCCTCTGATGACCTTCGACCTCTATGATGACTGGATGAGGGCAGCCAG___CCTGAAGGAGCCAGGGGCCCGGCTGCAGGCCCTCCAAGAGGTGTGCAGCCGCCTACCCCCCGAGAACCTCAGCAACCTCAG___GTACCTGATGAAGTTCCTGGCACGGCTGGCCGAGGAGCAGGAGGTGAACAAGATGACACCCAGCAACATCGCCATAGTCCTGGGACCCAACTTGCTGTGGCCACCTGAGAAAGAAGG___GGACCAGGCCCAGCTGGATGCAGCCTCCGTGTCTTCCATCCAGGTGGTGGGCGTCGTCGAGGCGCTGATCCAGAGCGCAGACACCCTCTTCCCTGGAG___ACATCAACTTCAACGTGTCAGGCCTCTTCTCAGCTGTTACCCTCCAGGACACAGTCAGTGACAGGCTGGCCTCTGAGGAACTTCCGTCCACTGCCGTGCCCACCCCAGCCACCACCCC)GGCTCCGGCTCCGGCTCCAGCTCCAGCTCCGGCCCCAGCCTTGGCTTCAGCAGCTACCAAGGAAAG|GACTCCCACAGACACTGAAGGAGTGGGCTCCGAAAGAGCTAGAACTCACGTCCCAGAAAGATGAGTCAGCCTTAACCATGACCACTCAGAAGTCACAACCAAACTCTGGGCTGGAGCCCTGGCCTGCCACTGAGGACTCCCTGAACCTCAGTTTCCTGGTCTGTCAAATGGGAAACAGTCACCTTCAGATG MDKRVKKLPLMALSTTMAESFKELDPDSSMGKALEMSCAIQNQLARILAEFEMTLERDVLQPLSRLSEEELPAILKHKKSLQKLVSDWNTLKSRLSQATKNSGSSQGLGGSPGSHSHTTMANKVETLKEEEEELKRKVEQCRDEYLADLYHFVTKEDSYANYFIRLLEIQADYHRRSLSSLDTALAELRENHGQADHSPSMTATHFPRVYGVSLATHLQELGREIALPIEACVMMLLSEGMKEEGLFRLAAGASVLKRLKQTMASDPHSLEEFCSDPHAVAGALKSYLRELPEPLMTFDLYDDWMRAASLKEPGARLQALQEVCSRLPPENLSNLRYLMKFLARLAEEQEVNKMTPSNIAIVLGPNLLWPPEKEGDQAQLDAASVSSIQVVGVVEALIQSADTLFPGDINFNVSGLFSAVTLQDTVSDRLASEELPSTAVPTPATTPAPAPAPAPAPAPALASAATKEr|tptdtegvgserarthvper* 03BR006 ENSG00000100092.23 ENSG00000128340.15(29151),ENSG00000100055.21(8876) +/+ ./+ chr22:37650725 chr22:37273599 CDS/splice-site intergenic duplication 0 2 0 184 7 medium out-of-frame . BAR_domain(100%),RhoGAP_domain(100%)| . . ENSG00000100092.23 . ENST00000649765.1 . downstream upstream duplicates(1) ^(GAGAGCGCCGCCCACCCATCCGGGGCAAGAGCCGCGCCGCAGGAGAGGCAGGCTGGACCGGGGGCTCCCCGGGCCCGCGACCCCCGCCGTGACCCCGCAGCCCCCAGCTCGCCCCCAAGATGATGAAGAGGCAGCTGCACCGCATGCGGCAGCTGGCCCAGACGGGCAGCTTGGGACG___CACCCCGGAGACCGCTGAGTTCCTGGGTGAGGACCTGCTGCAG___GTAGAACAGCGGCTGGAGCCGGCCAAGCGGGCAGCCCACAACATCCACAAGCGGCTGCAGGCCTGTCTGCAGGGCCAGAGCGGGGCAGACATGGACAAGCGGGTG___AAGAAGCTTCCCCTCATGGCTCTGTCCACCACGATGGCTGAGAGCTTCAAGGAGCTGGACCCTGATTCCAGCATGGG___GAAGGCCTTGGAGATGAGCTGTGCCATCCAGAATCAGCTGGCCCGCATCCTGGCCGAGTTTGAGATGACCCTGGAGAGGGACGTCCTGCAGCCACTCAGCAGGCTGAGTGAG___GAGGAGCTGCCAGCCATCCTCAAACACAAGAAAAGCCTCCAGAAGCTCGTGTCCGACTGGAACACACTCAAGAGCAG___GCTCAGTCAGGCAACCAAGAATTCAGGCAGCAGTCAAGGCCTAGGAGGCAGCCCGGGTAGTCACAGCCATACGACCATGGCCAACAAGGTGGAGACGCTGAAGGAGGAGGAGGAGGAGCTGAAGAGGAAAGTGGAGCAATGCAGG___GACGAGTACTTGGCTGACCTGTACCACTTTGTTACCAAGGAGGACTCCTATGCCAACTACTTCATTCGT___CTCCTGGAGATTCAGGCCGATTACCATCGCAGGTCACTGAGCTCGCTGGACACAGCCCTGGCTGAGCTGAGGGAGAACCACGGCCAAGCAG___ACCACTCCCCTTCGATGACAGCCACCCACTTCCCCAGGGTGTATGGGGTGTCGCTGGCAACCCACCTGCAAGAGCTGGGCCGGGAGATTGCCCTGCCCATCGAGGCCTGCGTCATGATGCTGCTTTCTGAGGGCATGAAGGAAGAG___GGTCTCTTCCGTCTGGCTGCTGGGGCCTCGGTGCTGAAGCGTCTCAAGCAGACAATGGCCTCGGACCCCCACAGCCTGGAGGAGTTCTGCTCCGACCCGCACGCTGTGGCAG___GTGCCCTCAAGTCCTATCTGCGGGAGCTGCCAGAGCCTCTGATGACCTTCGACCTCTATGATGACTGGATGAGGGCAGCCAG___CCTGAAGGAGCCAGGGGCCCGGCTGCAGGCCCTCCAAGAGGTGTGCAGCCGCCTACCCCCCGAGAACCTCAGCAACCTCAG___GTACCTGATGAAGTTCCTGGCACGGCTGGCCGAGGAGCAGGAGGTGAACAAGATGACACCCAGCAACATCGCCATAGTCCTGGGACCCAACTTGCTGTGGCCACCTGAGAAAGAAGG___GGACCAGGCCCAGCTGGATGCAGCCTCCGTGTCTTCCATCCAGGTGGTGGGCGTCGTCGAGGCGCTGATCCAGAGCGCAGACACCCTCTTCCCTGGAG___ACATCAACTTCAACGTGTCAGGCCTCTTCTCAGCTGTTACCCTCCAGGACACAGTCAGTGACAGGCTGGCCTCTGAGGAACTTCCGTCCACTGCCGTGCCCACCCCAGCCACCACCCC)GGCTCCGGCTCCGGCTCCAGCTCCAGCTCCGGCCCCAGCCTTGGCTTCAGCAGCTACCAAGGAAAG|GACTCCCACAGACACTGAAGGAGTGGGCTCCGAAAGAGCTAGAACTCACGTCCCAGAAAGATGAGTCAGCCTTAACCATGACCACTCAGAAGTCACAACCAAACTCTGGGCTGGAGCCCTGGCCTGCCACTGAGGACTCCCTGAACCTCAGTTTCCTGGTCTGTCAAATGGGAAACAGTCACCTTCAGATG MMKRQLHRMRQLAQTGSLGRTPETAEFLGEDLLQVEQRLEPAKRAAHNIHKRLQACLQGQSGADMDKRVKKLPLMALSTTMAESFKELDPDSSMGKALEMSCAIQNQLARILAEFEMTLERDVLQPLSRLSEEELPAILKHKKSLQKLVSDWNTLKSRLSQATKNSGSSQGLGGSPGSHSHTTMANKVETLKEEEEELKRKVEQCRDEYLADLYHFVTKEDSYANYFIRLLEIQADYHRRSLSSLDTALAELRENHGQADHSPSMTATHFPRVYGVSLATHLQELGREIALPIEACVMMLLSEGMKEEGLFRLAAGASVLKRLKQTMASDPHSLEEFCSDPHAVAGALKSYLRELPEPLMTFDLYDDWMRAASLKEPGARLQALQEVCSRLPPENLSNLRYLMKFLARLAEEQEVNKMTPSNIAIVLGPNLLWPPEKEGDQAQLDAASVSSIQVVGVVEALIQSADTLFPGDINFNVSGLFSAVTLQDTVSDRLASEELPSTAVPTPATTPAPAPAPAPAPAPALASAATKEr|tptdtegvgserarthvper* 03BR010 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 23 61 0 147 396 high . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000328189.7 upstream downstream duplicates(4),low_entropy(4),mismatches(4) CCGAGACCTTAGGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG(___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACC)$ . 03BR010 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 6 26 0 42 81 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),inconsistently_clipped(1),mismappers(1) GCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGC??????????????????AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATtTGGATCTAAG(GGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 03BR010 ENSG00000124942.14 ENSG00000124942.14 -/- -/+ chr11:62526763 chr11:62511754 CDS intron inversion/5'-5' 10 7 0 512 29 high out-of-frame . . . . ENSG00000124942.14 ENSG00000124942.14 ENST00000378024.9 . upstream upstream duplicates(1),mismatches(1) ^(GGCCACTCGGAGCTGCTCTGCCGCGGGGACTGCACCGCCCGCCCTGCCAGACCCGCCCGGAACGGGGCTCGTCGCCGCCAGTAGCCGCAGCACCGCAGCCTTGGGCCTCGCGCCGGCTATGGCCGTGCCCTGGGGCTGAGCCCTCAG___GTTGTGACCGAGATTCCCGACGAGAGAGACTGAGGGGAAGAGAGGAAGGAGGGGCGGGCTCCTGGCAAGGCATTCGCTCCTGAGCGGAATCCTGCAAAG___ATGGAGAAGGAGGAGACAACCCGGGAGCTGCTGCTGCCCAACTGGCAGGGTAGTGGCTCCCACGGGCTGACCATCGCCCAGAGGGACGACGGCGTCTTTGTGCAGGAGGTGACGCAGAACTCCCCTGCGGCCCGCACTGGGGTGGTCAAGGAGG___GGGACCAGATTGTGGGTGCCACCATCTACTTTGACAACCTGCAGTCGGGTGAGGTGACCCAGCTGCTGAACACCATGGGGCACCACACGGTGGGCCTGAAGCTGCACCGCAAGGGGGACCGCTCTCCCGAGCCTGGCCAGACCTGGACCCGTGAAGTCTTCAGCTCCTGCAGCTCTGAAGTGGTTCTG___AGCGGGGATGATGAGGAGTACCAGCGCATCTACACCACGAAGATCAAGCCACGGCTGAAGTCGGAAGATGGAGTGGAAGGAGACCTCGGGGAGACCCAGAGCCGTACCATCACAGTGACCAGAAGGGTCACGGCCTACACTGTGGATGTGACTGGCCGGGAAGGAGCCAAGGACATAGACATCAGTAGCCCTGAATTCAAGATCAAGATTCCAAGACATGAACTGACTGAAATCTCCAATGTGGATGTGGAGACCCAGTCTGGGAAGACCGTGATCAGACTGCCCTCGGGCTCGGGGGCAGCCTCTCCGACAGGCTCTGCTGTGGATATCCGAGCAGGGGCCATTTCTGCTTCAGGACCAGAGCTCCAAGGTGCTGGCCACTCGAAGCTCCAGGTCACCATGCCTGGGATAAAGGTGGGAGGCTCAGGTGTCAATGTCAATGCAAAGGGCTTGGACTTGGGTGGCAGAGGAGGGGTCCAAGTTCCAGCAGTGGACATTTCATCTTCTCTTGGGGGTAGGGCAGTAGAGGTACAGGGCCCATCTCTGGAGAGTGGTGATCATGGCAAAATTAAATTTCCCACCATGAAAGTGCCGAAATTTGGTGTCTCAACAGGGCGTGAGGGCCAGACACCAAAGGCAGGGCTGAGGGTTTCTGCACCTGAAGTCTCTGTGGGGCACAAGGGCGGCAAGCCAGGCTTGACTATCCAAGCCCCTCAGCTGGAAGTCAGTGTGCCCTCTGCCAATATTGAGGGCCTTGAGGGGAAGCTGAAGGGCCCCCAAATCACTGGGCCATCACTTGAGGGTGACCTAGGCCTGAAAGGTGCCAAGCCACAGGGGCACATTGGGGTGGATGCCTCTGCTCCCCAAATTGGGGGTAGCATCACTGGCCCCAGTGTGGAAGTTCAGGCCCCTGACATTGATGTTCAGGGGCCTGGGAGCAAACTGAATGTGCCCAAGATGAAAGTCCCCAAGTTCTCTGTATCAGGTGCAAAGGGAGAGGAAACTGGGATTGATGTGACACTGCCTACAGGTGAAGTGACTGTTCCTGGGGTCTCTGGGGATGTCAGCCTGCCTGAGATTGCTACTGGTGGGCTGGAAGGAAAGATGAAAGGTACTAAAGTGAAGACTCCTGAAATGATTATTCAGAAACCTAAAATCTCCATGCAGGATGTGGATCTGAGCCTTGGGTCTCCTAAACTGAAAGGAGATATTAAGGTTTCTGCTCCTGGGGTGCAAGGTGATGTTAAAGGCCCTCAAGTGGCACTTAAAGGCTCCAGAGTGGACATAGAGACACCAAACCTAGAGGGAACCTTGACAGGCCCTAGGCTTGGCAGTCCTTCCGGGAAAACCGGAACCTGTAGGATCTCTATGTCAGAAGTAGACTTAAATGTGGCCGCACCTAAAGTGAAAGGGGGTGTAGATGTCACACTCCCCAGAGTAGAAGGGAAAGTCAAAGTCCCTGAAGTTGATGTCAGAGGCCCCAAAGTGGATGTCAGTGCCCCAGATGTCGAAGCGCATGGCCCAGAATGGAACCTGAAAATGCCCAAGATGAAAATGCCCACGTTCAGCACTCCAGGAGCCAAAGGGGAAGGTCCAGATGTTCATATGACTCTACCCAAAGGAGATATCAGTATTTCAGGGCCCAAGGTCAATGTGGAAGCCCCAGATGTCAACTTGGAGGGTCTGGGGGGAAAACTTAAAGGCCCCGATGTTAAGCTGCCTGATATGAGTGTCAAGACACCAAAGATCTCCATGCCTGATGTAGATTTGCACGTGAAAGGTACAAAGGTGAAGGGAGAGTATGATGTAACTGTACCAAAGCTGGAAGGAGAACTCAAAGGCCCAAAAGTGGACATTGATGCCCCAGATGTGGATGTTCATGGCCCAGACTGGCACTTGAAGATGCCCAAGATGAAAATGCCCAAATTCAGTGTGCCAGGGTTCAAAGCAGAGGGCCCAGAAGTGGATGTGAACCTGCCCAAGGCTGATGTGGACATTTCCGGGCCCAAGATAGATGTTACTGCTCCTGATGTGAGCATTGAGGAACCAGAAGGGAAATTGAAAGGGCCCAAGTTTAAGATGCCTGAGATGAACATCAAAGTCCCCAAGATCTCCATGCCTGATGTGGACTTACATCTGAAAGGCCCTAACGTAAAGGGAGAATATGATGTCACAATGCCAAAGGTTGAAAGTGAGATTAAAGTTCCTGATGTTGAACTTAAAAGTGCCAAAATGGACATTGATGTCCCAGATGTGGAGGTTCAAGGCCCAGACTGGCACCTGAAGATGCCCAAGATGAAAATGCCCAAGTTCAGCATGCCTGGCTTCAAAGCAGAGGGCCCAGAAGTGGATGTGAACCTGCCCAAGGCTGATGTGGACATCTCAGGACCCAAGGTGGGTGTTGAAGTTCCAGATGTGAATATTGAAGGACCTGAAGGAAAGCTGAAGGGCCCCAAGTTCAAGATGCCAGAGATGAATATCAAGGCCCCCAAGATCTCCATGCCTGATGTGGACTTGCATATGAAAGGTCCTAAAGTAAAGGGAGAATATGATATGACAGTGCCAAAGCTGGAAGGGGACCTGAAAGGCCCAAAAGTAGATGTCAGTGCCCCAGATGTTGAAATGCAGGGTCCTGACTGGAACTTGAAGATGCCAAAGATTAAAATGCCCAAATTTAGCATGCCCAGCCTCAAAGGAGAGGGGCCAGAATTTGATGTGAACCTGTCCAAAGCGAATGTGGACATTTCTGCACCAAAAGTAGATACTAATGCTCCAGATCTGAGCCTTGAAGGACCTGAAGGGAAGTTGAAAGGCCCGAAGTTTAAGATGCCTGAGATGCACTTCAGAGCTCCTAAGATGTCTTTGCCAGATGTTGACCTGGATCTTAAAGGACCCAAAATGAAAGGAAATGTAGATATCTCTGCACCAAAGATAGAGGGTGAAATGCAGGTTCCAGATGTGGACATCAGAGGTCCCAAGGTAGATATTAAAGCACCAGATGTGGAAGGCCAAGGCCTGGACTGGAGCCTGAAAATACCCAAGATGAAAATGCCCAAGTTCAGCATGCCCAGCCTCAAAGGCGAGGGCCCAGAAGTGGATGTGAACTTGCCTAAGGCTGACGTTGTTGTCTCAGGACCCAAGGTGGACATCGAAGCCCCAGATGTGAGCCTCGAAGGTCCAGAAGGGAAGCTGAAGGGTCCCAAGTTTAAGATGCCTGAGATGCATTTCAAGACCCCCAAGATCTCCATGCCTGATGTGGACTTACACTTGAAAGGCCCCAAAGTCAAAGGGGATGTGGATGTGTCTGTGCCCAAGGTAGAAGGTGAAATGAAAGTGCCAGATGTTGAAATCAAAGGACCCAAAATGGACATTGATGCCCCAGATGTGGAGGTTCAAGGCCCAGACTGGCACCTGAAGATGCCCAAGATGAAAATGCCCAAGTTTAGCATGCCTGGCTTCAAAGGAGAGGGCCGAGAAGTGGATGTGAACCTGCCCAAGGCTGACATTGATGTCTCAGGACCCAAGGTGGATGTTGAAGTCCCAGATGTGAGCCTTGAGGGCCCGGAAGGAAAGCTGAAGGGCCCCAAGTTTAAGATGCCTGAGATGCACTTCAAGGCCCCCAAGATCTCCATGCCTGATGTGGACCTGAATCTTAAGGGGCCAAAATTGAAGGGAGATGTGGATGTGTCCTTGCCTGAGGTAGAAGGTGAAATGAAAGTGCCAGATGTTGACATTAAAGGGCCCAAAGTTGACATTAGTGCTCCAGATGTGGATGTTCATGGCCCAGATTGGCACCTGAAGATGCCCAAGGTGAAAATGCCCAAGTTCAGCATGCCCGGCTTCAAAGGAGAGGGCCCTGAAGTGGATGTGAAGCTGCCCAAAGCTGACGTTGATGTCTCAGGACCCAAAATGGATGCTGAAGTTCCAGATGTGAATATTGAAGGTCCAGACGCAAAACTAAAAGGTCCCAAATTCAAGATGCCAGAAATGAGTATAAAGCCTCAGAAGATATCCATACCAGATGTTGGTTTGCATTTGAAAGGTCCTAAAATGAAAGGAGATTATGATGTAACAGTTCCAAAAGTAGAAGGAGAGATAAAAGCTCCTGATGTTGACATCAAAGGCCCCAAAGTTGATATTAATGCACCAGATGTGGAGGTTCATGGCCCAGACTGGCACCTGAAGATGCCCAAGGTAAAAATGCCCAAGTTCAGCATGCCTGGCTTTAAAGGAGAGGGCCCAGAGGTGGATATGAACCTGCCCAAGGCTGACCTTGGTGTTTCAGGACCCAAGGTGGACATTGATGTTCCAGATGTGAATCTTGAAGCTCCAGAGGGGAAACTAAAAGGCCCTAAGTTCAAGATGCCAAGCATGAATATACAGACGCACAAAATCTCTATGCCTGATGTTGGACTTAATTTGAAAGCCCCTAAACTGAAAACTGATGTAGATGTTTCCCTTCCCAAAGTGGAAGGAGACTTGAAGGGTCCTGAAATTGATGTGAAAGCCCCTAAGATGGATGTGAATGTTGGTGATATTGATATTGAAGGTCCAGAAGGGAAGTTGAAGGGCCCCAAGTTTAAGATGCCTGAGATGCATTTCAAGGCCCCCAAGATCTCCATGCCCGATGTGGACTTACACTTGAAAGGCCCCAAAGTCAAAGGGGATATGGATGTGTCTGTGCCCAAGGTAGAAGGTGAAATGAAAGTGCCAGATGTTGACATTAAAGGGCCCAAAGTGGACATTGATGCCCCAGATGTGGAGGTTCACGACCCAGATTGGCACCTGAAAATGCCCAAGATGAAAATGCCCAAGTTCAGTATGCCTGGCTTCAAAGCAGAGGGCCCTGAAGTGGATGTGAATCTGCCAAAGGCTGACATTGATGTGTCTGGACCCAGTGTGGACACTGATGCTCCTGATTTGGATATTGAGGGACCAGAAGGAAAGTTGAAAGGCTCCAAATTTAAGATGCCCAAGTTGAATATAAAAGCTCCCAAGGTCTCCATGCCAGATGTGGACTTGAATTTGAAGGGACCCAAACTGAAGGGAGAGATAGATGCTTCTGTGCCAGAACTGGAAGGTGATCTCAGAGGGCCGCAAGTTGATGTCAAAGGTCCTTTTGTGGAAGCGGAGGTGCCCGATGTTGATCTGGAGTGTCCTGATGCAAAGTTGAAAGGGCCCAAGTTTAAGATGCCTGAGATGCACTTCAAGGCCCCCAAGATCTCCATGCCTGATGTGGACTTACACCTGAAAGGCCCCAAAGTCAAAGGGGATGCGGATGTGTCGGTGCCAAAATTGGAGGGAGATTTAACAGGCCCCAGTGTGGGTGTGGAGGTGCCTGATGTTGAGCTGGAGTGTCCTGATGCAAAGTTGAAAGGCCCTAAATTTAAGATGCCAGACATGCACTTCAAGGCCCCCAAGATCTCCATGCCTGATGTGGACTTACACTTGAAAGGCCCCAAAGTCAAAGGGGATGTGGATGTGTCGGTGCCAAAATTGGAGGGAGATTTAACAGGTCCCAGTGTGGGTGTGGAGGTGCCTGATGTTGAGCTGGAGTGTCCTGATGCAAAGTTGAAAGGGCCCAAGTTTAAGATGCCTGAGATGCACTTCAAGACCCCCAAGATCTCCATGCCTGATGTGGACTTACACCTGAAAGGCCCCAAAGTCAAAGGGGATATGGATGTGTCTGTGCCCAAGGTAGAAGGTGAAATGAAAGTGCCAGATGTTGACATCAAAGGACCCAAAATGGACATTGATGCCCCAGATGTGGATGTTCATGGCCCAGACTGGCACCTGAAGATGCCCAAGATGAAAATGCCCAAGTTCAGCATGCCTGGCTTCAAAGCAGAGGGCCCAGAAGTGGATGTGAACTTGCCCAAGGCTGATGTTGTTGTCTCAGGACCCAAGGTGGATGTTGAAGTCCCAGATGTGAGCCTTGAAGGTCCAGAAGGGAAGCTGAAGGGCCCCAAGCTTAAGATGCCTGAGATGCACTTCAAGGCCCCCAAGATCTCCATGCCTGATGTGGACTTACACTTGAAAGGCCCCAAAGTCAAAGGGGATGTGGATGTGTCTTTGCCAAAATTGGAGGGAGATTTAACAGGCCCCAGTGTGGATGTGGAGGTGCCTGATGTTGAGCTGGAGTGTCCTGATGCAAAGTTGAAAGGGCCCAAGTTTAAGATGCCTGAGATGCACTTCAAGACCCCCAAGATCTCCATGCCTGATGTGAACTTAAACTTGAAAGGCCCCAAAGTCAAAGGGGATATGGATGTGTCTGTTCCCAAGGTAGAAGGTGAAATGAAAGTGCCAGATGTTGACATCAGAGGGCCCAAAGTGGACATTGATGCCCCAGATGTGGATGTTCATGGCCCAGACTGGCACCTGAAGATGCCTAAGATGAAAATGCCCAAGTTCAGCATGCCTGGCTTCAAAGGAGAGGGCCCAGAAGTGGATGTGAACTTGCCCAAGGCTGACGTTGATGTCTCAGGACCCAAGGTGGATGTTGAAGTCCCAGATGTGAGCCTTGAAGGTCCAGAAGGGAAGCTGAAGGGCCCCAAGTTTAAGATGCCTGAGATGCACTTCAAGACCCCCAAGATCTCCATGCCTGATGTTGATTTCAATTTAAAGGGACCCAAAATCAAAGGAGATGTTGATGTTTCTGCCCCAAAGCTGGAGGGAGAGTTAAAAGGTCCAGAATTGGATGTCAAAGGTCCCAAATTAGATGCTGACATGCCAGAAGTAGCTGTGGAAGGCCCAAATGGCAAGTGGAAAACTCCTAAGTTCAAGATGCCAGATATGCACTTTAAAGCTCCCAAAATCTCTATGCCAGACCTCGATCTACACTTGAAGAGCCCCAAGGCAAAAGGAGAGGTGGATGTAGATGTTCCCAAATTGGAAGGGGACCTTAAAGGGCCACATGTGGATGTCAGTGGGCCAGACATTGACATTGAGGGACCAGAGGGCAAATTGAAAGGCCCTAAGTTCAAGATGCCTGATATGCATTTCAAAGCCCCCAATATTTCTATGCCTGATGTTGATCTAAATCTCAAAGGAC)CCAAAATCAAGGGGGATGTGGATGTGTCTGTGCCTGAGGTAGAAGGTAAACTTGAAGTACCAGATATGAACATCAGGGGCCCCAAAGTTGATGTAAATGCCCCCGATGTCCAAGCTCCAGACTGGCACCTGAAGATGCCCAAGATGAAAATGCCCAAGTTCAGCATGCCTGGCTTCAAAGCAGAGGGCCCTGAAGTAGACGTCAACTTGCCTAAGGCTGACGTTGACATCTCAGGACCCAAGGTGGACATTGAAGGCCCT|c|TgTTGCTTTGTCTGCCAGGCTGGAATGCAGGCTTAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGAGTGCCACACCGGGCTAGTTTGTTTCTTTTCTGAGATGGAGTCTTGCTCTGTCgCCCAGGCTGGAGTGCCGTGGCgCggTCTTGGTTCACTGCggCCTCCACCTCCCGGGTTCggGCAATTCTCC MEKEETTRELLLPNWQGSGSHGLTIAQRDDGVFVQEVTQNSPAARTGVVKEGDQIVGATIYFDNLQSGEVTQLLNTMGHHTVGLKLHRKGDRSPEPGQTWTREVFSSCSSEVVLSGDDEEYQRIYTTKIKPRLKSEDGVEGDLGETQSRTITVTRRVTAYTVDVTGREGAKDIDISSPEFKIKIPRHELTEISNVDVETQSGKTVIRLPSGSGAASPTGSAVDIRAGAISASGPELQGAGHSKLQVTMPGIKVGGSGVNVNAKGLDLGGRGGVQVPAVDISSSLGGRAVEVQGPSLESGDHGKIKFPTMKVPKFGVSTGREGQTPKAGLRVSAPEVSVGHKGGKPGLTIQAPQLEVSVPSANIEGLEGKLKGPQITGPSLEGDLGLKGAKPQGHIGVDASAPQIGGSITGPSVEVQAPDIDVQGPGSKLNVPKMKVPKFSVSGAKGEETGIDVTLPTGEVTVPGVSGDVSLPEIATGGLEGKMKGTKVKTPEMIIQKPKISMQDVDLSLGSPKLKGDIKVSAPGVQGDVKGPQVALKGSRVDIETPNLEGTLTGPRLGSPSGKTGTCRISMSEVDLNVAAPKVKGGVDVTLPRVEGKVKVPEVDVRGPKVDVSAPDVEAHGPEWNLKMPKMKMPTFSTPGAKGEGPDVHMTLPKGDISISGPKVNVEAPDVNLEGLGGKLKGPDVKLPDMSVKTPKISMPDVDLHVKGTKVKGEYDVTVPKLEGELKGPKVDIDAPDVDVHGPDWHLKMPKMKMPKFSVPGFKAEGPEVDVNLPKADVDISGPKIDVTAPDVSIEEPEGKLKGPKFKMPEMNIKVPKISMPDVDLHLKGPNVKGEYDVTMPKVESEIKVPDVELKSAKMDIDVPDVEVQGPDWHLKMPKMKMPKFSMPGFKAEGPEVDVNLPKADVDISGPKVGVEVPDVNIEGPEGKLKGPKFKMPEMNIKAPKISMPDVDLHMKGPKVKGEYDMTVPKLEGDLKGPKVDVSAPDVEMQGPDWNLKMPKIKMPKFSMPSLKGEGPEFDVNLSKANVDISAPKVDTNAPDLSLEGPEGKLKGPKFKMPEMHFRAPKMSLPDVDLDLKGPKMKGNVDISAPKIEGEMQVPDVDIRGPKVDIKAPDVEGQGLDWSLKIPKMKMPKFSMPSLKGEGPEVDVNLPKADVVVSGPKVDIEAPDVSLEGPEGKLKGPKFKMPEMHFKTPKISMPDVDLHLKGPKVKGDVDVSVPKVEGEMKVPDVEIKGPKMDIDAPDVEVQGPDWHLKMPKMKMPKFSMPGFKGEGREVDVNLPKADIDVSGPKVDVEVPDVSLEGPEGKLKGPKFKMPEMHFKAPKISMPDVDLNLKGPKLKGDVDVSLPEVEGEMKVPDVDIKGPKVDISAPDVDVHGPDWHLKMPKVKMPKFSMPGFKGEGPEVDVKLPKADVDVSGPKMDAEVPDVNIEGPDAKLKGPKFKMPEMSIKPQKISIPDVGLHLKGPKMKGDYDVTVPKVEGEIKAPDVDIKGPKVDINAPDVEVHGPDWHLKMPKVKMPKFSMPGFKGEGPEVDMNLPKADLGVSGPKVDIDVPDVNLEAPEGKLKGPKFKMPSMNIQTHKISMPDVGLNLKAPKLKTDVDVSLPKVEGDLKGPEIDVKAPKMDVNVGDIDIEGPEGKLKGPKFKMPEMHFKAPKISMPDVDLHLKGPKVKGDMDVSVPKVEGEMKVPDVDIKGPKVDIDAPDVEVHDPDWHLKMPKMKMPKFSMPGFKAEGPEVDVNLPKADIDVSGPSVDTDAPDLDIEGPEGKLKGSKFKMPKLNIKAPKVSMPDVDLNLKGPKLKGEIDASVPELEGDLRGPQVDVKGPFVEAEVPDVDLECPDAKLKGPKFKMPEMHFKAPKISMPDVDLHLKGPKVKGDADVSVPKLEGDLTGPSVGVEVPDVELECPDAKLKGPKFKMPDMHFKAPKISMPDVDLHLKGPKVKGDVDVSVPKLEGDLTGPSVGVEVPDVELECPDAKLKGPKFKMPEMHFKTPKISMPDVDLHLKGPKVKGDMDVSVPKVEGEMKVPDVDIKGPKMDIDAPDVDVHGPDWHLKMPKMKMPKFSMPGFKAEGPEVDVNLPKADVVVSGPKVDVEVPDVSLEGPEGKLKGPKLKMPEMHFKAPKISMPDVDLHLKGPKVKGDVDVSLPKLEGDLTGPSVDVEVPDVELECPDAKLKGPKFKMPEMHFKTPKISMPDVNLNLKGPKVKGDMDVSVPKVEGEMKVPDVDIRGPKVDIDAPDVDVHGPDWHLKMPKMKMPKFSMPGFKGEGPEVDVNLPKADVDVSGPKVDVEVPDVSLEGPEGKLKGPKFKMPEMHFKTPKISMPDVDFNLKGPKIKGDVDVSAPKLEGELKGPELDVKGPKLDADMPEVAVEGPNGKWKTPKFKMPDMHFKAPKISMPDLDLHLKSPKAKGEVDVDVPKLEGDLKGPHVDVSGPDIDIEGPEGKLKGPKFKMPDMHFKAPNISMPDVDLNLKGPKIKGDVDVSVPEVEGKLEVPDMNIRGPKVDVNAPDVQAPDWHLKMPKMKMPKFSMPGFKAEGPEVDVNLPKADVDISGPKVDIEGP|lllclpgwnaglsdspasas* 03BR010 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 12 4 0 122 37 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGC)GTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 03BR010 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 8 5 1 43 22 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGT)GGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 03BR010 ENSG00000236193.3(46806),ENSG00000272519.1(52477) ENSG00000030419.16 ./- -/- chr2:213214518 chr2:213148644 intergenic CDS/splice-site deletion/read-through 6 6 0 31 53 high . . |C2H2-type_zinc_finger(100%),Zinc_finger__C2H2_type(100%) . . . ENSG00000030419.16 . ENST00000342002.6 upstream downstream duplicates(2) CAAGAGTGCCAGTTGCTCATGGCTAGCTGACACCATGACTGGAATTCCAGAGACATCCCAGCAGCTGCCAATAATGCTTTTGTCTCAGAGATTCTCCCTTCTTTCTTCCTTCTTCTTGGTATCAGCTGCCTGTAAAGCTTTGCTGGTGC...TATTGACAGGCTCCAAGACTG___AGGGTGTCAGAAGCGGGATCTGAAGTGGAGCTTCTAGCGACCCCAGGAGCCCTGAGTGAATATGCAAGGCACCTGCAGGACCCACTGGTGTCCATTGATCTCTCAGAGCGCTGGAGATCGTGG|CATTGCACTTTGACTATGGAAACAGAGGCTATTGATGGCTATATAACGT___GTGACAATGAGCTTTCACCCGAAAGGGAGCACTCCAATATGGCAATTGACCTCACCTCAAGCACACCCAATGGACAGCATGCCTCACCAAGTCACATGACAAGCA___CAAATTCAGTAAAGCTAGAAATGCAGAGTGATGAAGAGTGTGACAGGAAAC(CCCTGAGCCGTGAAGATGAGATCAGGGGCCATGATGAGGGTAGCAGCCTAGAAGAACCCCTAATTGAGAGCAGCGAGGTGGCTGACAACAGGAAAGTCCAGGAGCTTCAAGGCGAGGGAGGAATCCGGCTTCCGAATGGTAAACTGAAATGTGACGTCTGTGGCATGGTTTGCATTGGGCCCAATGTGCTTATGGTACATAAAAGGAGTCACACTG___GTGAACGCCCCTTCCACTGTAACCAGTGTGGAGCTTCTTTTACTCAGAAGGGCAACCTTCTGAGACACATAAAGTTACACTCTGGAGAGAAGCCGTTCAAATGTCCTTTCTGTAGCTACGCCTGTAGAAGAAGGGACGCCCTCACAGGACACCTCAGGACCCATTCTG___TGGGTAAACCTCACAAGTGCAACTACTGTGGACGAAGCTACAAGCAGCGCAGTTCACTGGAGGAGCACAAGGAACGCTGCCACAACTATCTCCAGAATGTCAGCATGGAGGCTGCTGGGCAGGTCATGAGTCACCATG___TACCTCCTATGGAAGATTGTAAGGAACAAGAGCCTATTATGGACAACAATATTTCTCTGGTGCCTTTTGAGAGACCTGCTGTCATAGAGAAGCTCACGGGGAATATGGGAAAACGTAAAAGCTCCACTCCACAAAAGTTTGTGG___GGGAAAAGCTCATGCGATTCAGCTACCCAGATATTCACTTTGATATGAACTTAACATATGAGAAGGAGGCTGAGCTGATGCAGTCTCATATGATGGACCAAGCCATCAACAATGCAATCACCTACCTTGGAGCTGAGGCCCTTCACCCTCTGATGCAGCACCCGCCAAGCACAATCGCTGAAGTGGCCCCAGTTATAAGCTCAGCTTATTCTCAGGTCTATCATCCAAATAGGATAGAAAGACCCATTAGCAGGGAAACTGCTGATAGTCATGAAAACAACATGGATGGCCCCATCTCTCTCATCAGACCAAAGAGTCGACCCCAGGAAAGAGAGGCCTCTCCCAGCAATAGCTGCCTGGATTCCACTGACTCAGAAAGCAGCCATGATGACCACCAGTCCTACCAAGGACACCCTGCCTTAAATCCCAAGAGGAAACAAAGCCCAGCTTACATGAAGGAGGATGTCAAAGCTTTGGATACTACCAAGGCTCCTAAGGGCTCTCTGAAGGACATCTACAAGGTCTTCAATGGAGAAGGAGAACAGATTAGGGCCTTCAAGTGTGAGCACTGCCGAGTCCTTTTCCTAGACCATGTCATGTACACCATTCACATGGGTTGCCATGGCTACCGGGACCCACTGGAATGCAACATCTGTGGCTACAGAAGCCAGGACCGTTATGAGTTTTCATCACACATTGTTCGAGGGGAGCACACATTCCACTAGGCCTTTTCATTCCAAAGGGGACCCCTATGAAGTAAAGAACTGCACATGAAGAAATACTGCACTTACAATCCCACCTTTCCTCAAATGTTGACATACCTTTTATTTTTTTTAATATTATTACTGTTGATAATTCTTATTTTGTGGAGGCAGTGTCATTTGCTCTGCCTAATTACGATAAGGAAGAAACAGAAGAGAGAAGGGGCGGGAATATTGTTTCTTTATCACCTGGCTTGTTTATTTTGTGGGAATTTAAGAGCAGTCCATTTCTACCAAGGCATATCATGCTTTGAAAAATCACTTGATTCATAAAGATTCACCTAAGAGATTCTGATTTGCCACTGATATTCAGAATTATGATGGAAGACAGGAAAGTTCAGAGTTTTCTGGGTAGGACTTTGGTGGTTTAAAAATGGTATAAGTAACTTTATTCTTGAAAGAAGAATGTGTTTCAAACTGTAAACCAATTTTTTGTTCTTCAGAGATCATGGAACACAAACACATTGTTATTTTCAGTGATAACTCCTAAGAGGAGCTGAGTTGTTGTGGGTTCTATGTTTACTTCCCCTATGGAATTTATAATTCAGTATGTTTTACACTGTACCATATAGCAAAACTTTTAAACTACAGGTAGTTAAGGGCCACCTACAATACATCTGAGGTCCTGTGATCTTATTTTTCTAAACGTAAGCACTGTTTTTCCATAGTTTTGATGACTGGCATTTTATAGACACCCTGGCAGCCTTACTTTTAACACCTTTAAGGAATAGTATTTTTATGTAGTTTTCAGAATAACATATGGTCTAAGAGTGGATAAAAGGCAGTCAATAATTTCTGGGAGGGACTTCTACTTTCATAAATTTGTTTGAGAGGTTTTCTTTTAAAGTTGTAATGTGATGGCAGCATAGTATATGTATTTGTTTCTAAAAGTATGCTTACGATTGTCACTTTATCAGCATTTAATCAGTGTTAACCAGTCAGCAGAAAAATATAATTATGCTAACAGTAGGGGGAGAAAACCCACTTAGAAATCCCTTTTCTGGTATTTCTCTTTTCACTAGTTTTTTTCAAGATGTGACCTCCCGGTGTTCTGTCCATAGTTCATTCATCCTTTACTCTTCGAGTAGAAGGTCTTAAAAGTCTTCCTGTCGGCTGTTTCTTTCAAAATCTCCTCAGAGCAATTGCTAATTTGGCCTGAATCTGGTAACTTGAACCCTGTAAGGTTACAGAACTAGGGCTATTTATTTTAGCATTTCTTCAGTAGTATTTACTACTCTTGTTGCAAAGAAAAGGGAATGGGACTTCTTTGTAACCTGTACCTTGGACAACAGATAAAAGAAACAAAAAAATAAGAAAGTTTACTTTTACCCTTCTTGGAGTCTAGAATGTGACAGAACCCCCAAAGGAAAGTCCTGCACATTTTTCTGTTTCCAAAACATTTAATTGTGTAAGTCCTTGTCAGAAATGAATCTCAATCCCTTAGTATAGAATTCCCCTTACATGGTATAGGTTGCCATATTTCATGTGCAGATTTTAATTTCATTTATGTGGGCGCTCTGTTTTTTCTTTGCAGTCCAGCCACATTAGAGGGGAGGAACCGAGTGATATTGATTCAAGTCATTTTAGGGGGACATACTTGGAAGGCAGAACTTGCTGCTTCTGTTTGGGGAGGACAGACCTGACTGTGACTGGATTATCTGATAACCATTTGTGAATACTGAAATTCTGTTAGGCAGTAACTGATAACTGCTCTAAAGGATCATTAAATAGGATGCTGAAATTATGTATCTTAATACAGTGTGGTATGAGAATTACCAAGTCAAGAGAATTGTGGACATAAGCAAGTTTGGCCCCAATACTGCTCTTAACTCATTTTCCAGCTTACTATTTGCTATTTAAATGGTAGGCACCAGCTAAGCACTTCTAAGCACTAACACAGCTAGAACTAGGCAAAAATGGTTAGAACTCAGCTCTCTTCTACTAGTCCCTGTCATAATTAT)$ . 03BR010 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 4 6 0 10 11 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream . TGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACgGCGAAG___...GTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___...GTTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGG(AGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 03BR010 ENSG00000014138.9 ENSG00000255504.2(142918),ENSG00000137672.13(99196) +/+ ./- chr11:65295990 chr11:101352368 CDS/splice-site intergenic inversion 4 1 0 13 4 high out-of-frame . DNA_polymerase_alpha/epsilon_subunit_B(100%),DNA_polymerase_alpha_subunit_B_N-terminal(100%)| . . ENSG00000014138.9 . ENST00000265465.8 . downstream downstream . ^(AGTTCTGCCACCGTCACTGAGAAGCTCAGCGGTAGCTTTTGGGAAGCAGGACGTTCTCACCAGGAGAGCGTCCTCTCGAGATTTCTGCTCCCTCCATTCAGGGCGTTTGGGAGCCACCCCTTCATTTTTTAAAAAAAGTATTTCTCTGTGACCGACGGCCGGGGCCTTCTGACGGTCTGAGGTCTTGCTTGGGCCAGTCACCTCCTGTCACGGTCCGCGGAGGGGGGAAGGATAAGAGGGCGAGGAGCTCATCGCTCGCCACCCCCGTGGGCTTCTTGGGCGCAGGTCGGAGCTGGGTGGGCCGGCTCCCCGGCCCCTGGCTTGGGCGACCATGTCCGCATCCGCCCAGCAGCTGGCGGAGGAGCTGCAGATCTTCGGCCTAGACTGCGAGGAGGCTCTAATTGAGAAAT___TGGTAGAGCTTTGTGTTCAGTATGGACAGAATGAGGAGGGAATGGTAGGCGAGCTTATAGCCTTCTGCACCAGCACACATAAAGTTGGCCTTACCTCAGAGATCCTGAACTCTTTTGAGCATGAG___TTTCTGAGCAAAAGATTATCGAAAGCCAGGCATAGTACCTGCAAGGACAGTGGCCATGCAGGAGCTAGAGACATTGTTTCCATTCAAGAGCT___AATTGAAGTGGAAGAAGAAGAGGAAATCCTCTTGAACTCTTACACCACACCTTCAAAG___GGTTCTCAGAAGCGAGCTATCTCTACCCCAGAAACCCCCCTAACAAAAAGGAGTGTGTCAACTCGTAGCCCCCATCAGCTACTCTCACCGTCAAGTTTCTCTCCAAG___TGCTACTCCCTCCCAGAAATACAACTCACGAAGTAACCGAGGAGAAGTGGTTACCTCCTTCGGCTTAGCACAGGGAGTATCTTGGTCTGGGAGAGGAGGAGCTGGAAACATCAGCCTGAAGGTCTTGGGATGTCCAGAGGCACTAACTGGGAGCTACAAATCCATGTTTCAGAAGCTCCCAGACATTCGAGAAG___TTCTGACCTGTAAGATAGAAGAACTTGGCAGCGAACTCAAGGAACATTACAAGATTGAAGCTTTCACTCCTTTGCTAGCCCCAGCACAG___GAGCCTGTCACTCTGCTGGGCCAGATTGGCTGTGATAGCAACGGGAAGCTGAACAACAAGTCAGTGATTCTCGAGGGAGACCGGGAACATTCCTCGGGTGCTCAAATTCCAGTGGATTTATCTGAGCTTAAGGAATATTCTCTGTTTCCTGGACAG___GTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAG___GGTGTGCCACTTCCATTTTATCAGCCCACTGAAGAGGATGCAG___ACTTTGAGCAAAGCATGGTCCTGGTTGCCTGTGGACCATACACCACATCTGACAGCATCACGTATGACCCCCTGCTTGACCTGATTGCTGTCATCAACCATGACCGGCCAGATGTCTGCATCCTG___TTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAG___AATTGTCTACTGACAAGTCCATTTGAAGACATTTTCAAGCAGTGTCTACGAACAATTATTGAAGGCACAAGAAG___CTCCGGCTCCCACCTTGTCTTTGTCCCGTCATTGAGAGATGTGCACCATGAGCCTGTGTACCCCCAGCCGCCTTTCAGCTACTCCGATCTGTCTCGAGAGGACAAAAAG___CAAGTACAGTTTGTGTCCGAGCCCTGCAGCCTCTCCATAAACGGAGTGATCTTCGGCTTGACATCCACAGATCTGCTTTTCCACCTGGGGGCCGAGGAGATCAGTAG___TTCTTCCGGAACTTCA)GACAGATTCAGCCGAATACTCAAGCACATCTTGACCCAGAGGAG___CTACTACCCACTCTACCCGCCCCAAGAAGACATGGCCATTGACTATGAGTCGTTCTATGTTTACGCACAGCTGCCTGTCACCCCAGATGTCCTCATCATCCCGTCAGAGCTGAGGTACTTCGTGAAG|TTCTGCACCCCAGGAAACCCCTCGGTCCCAGACAAATGGAGAAGATTGGGCATCCTCCTGTAGGAGTTTACAAGCTGATCATGTTGGGAAAACCATGTCTTTTAAAAGTATGTATCCCAAGACTCTGCTGGGCATATAATAAATAGCAAATATTCACTTATCCTGGACACTAACTGGAATGCTTTCAAAAGAGACTGTTTTCCCAGACAATTCCCAAAAATTTACTAATACTACCCTCACATGATTAGAATTATCTCAGAAAATCTTTT MSASAQQLAEELQIFGLDCEEALIEKLVELCVQYGQNEEGMVGELIAFCTSTHKVGLTSEILNSFEHEFLSKRLSKARHSTCKDSGHAGARDIVSIQELIEVEEEEEILLNSYTTPSKGSQKRAISTPETPLTKRSVSTRSPHQLLSPSSFSPSATPSQKYNSRSNRGEVVTSFGLAQGVSWSGRGGAGNISLKVLGCPEALTGSYKSMFQKLPDIREVLTCKIEELGSELKEHYKIEAFTPLLAPAQEPVTLLGQIGCDSNGKLNNKSVILEGDREHSSGAQIPVDLSELKEYSLFPGQVVIMEGINTTGRKLVATKLYEGVPLPFYQPTEEDADFEQSMVLVACGPYTTSDSITYDPLLDLIAVINHDRPDVCILFGPFLDAKHEQVENCLLTSPFEDIFKQCLRTIIEGTRSSGSHLVFVPSLRDVHHEPVYPQPPFSYSDLSREDKKQVQFVSEPCSLSINGVIFGLTSTDLLFHLGAEEISSSSGTSDRFSRILKHILTQRSYYPLYPPQEDMAIDYESFYVYAQLPVTPDVLIIPSELRYFVK|fctpgnpsvpdkwrrlgill* 03BR010 ENSG00000134780.10 ENSG00000182463.16 +/+ +/- chr11:61680504 chr20:53211712 5'UTR/splice-site intron translocation/5'-5' 2 3 0 3 12 high . . . . . ENSG00000134780.10 ENSG00000182463.16 ENST00000257215.10 . downstream downstream . ^(CTTCGCGCCGGCGCCGGC)GCCCTGCGGAAGCGGCGTTAGTGAATCGGGGCCTTGGGGAGCCCAGGATGGAGGTGGCGGTCGCGGCGGCGGGCCGAGCCCTGCGGCGGGCGGGAG|ACACAGGGTCTCACTCTGTCACCCAGGCCGGAATGCAGCGGCATAATTGTAACTCACTGCAGCCTCCATCTCCTGGCTCAAGCGATCCTCCCATCTGAGCCTGCTGAGTATTGGGATTGCAG___GCAAAATTTATTACACTTTG . 03BR010 ENSG00000285816.1 ENSG00000255504.2(142918),ENSG00000137672.13(99196) +/+ ./- chr11:65295990 chr11:101352368 CDS/splice-site intergenic inversion 4 1 0 13 4 high out-of-frame . . . . ENSG00000285816.1 . ENST00000649896.1 . downstream downstream . ^(GCACAAACCATTTGGCGGGTTTTTCCGGCCACTCAGTTCTGCCACCGTCACTGAGAAGCTCAGCGGTAGCTTTTGGGAAGCAGGACGTTCTCACCAGGAGAGCGTCCTCTCGAGATTTCTGCTCCCTCCATTCAGGGCGTTTGGGAGCCACCCCTTCATTTTTTAAAAAAAGTATTTCTCTGTGACCGACGGCCGGGGCCTTCTGACGGTCTGAGGTCTTGCTTGGGCCAGTCACCTCCTGTCACGGTCCGCGGAGGGGGGAAGGATAAGAGGGCGAGGAGCTCATCGCTCGCCACCCCCGTGGGCTTCTTGGGCGCAGGTCGGAGCTGGGTGGGCCGGCTCCCCGGCCCCTGGCTTGGGCGACCATGTCCGCATCCGCCCAGCAGCTGGCGGAGGAGCTGCAGATCTTCGGCCTAGACTGCGAGGAGGCTCTAATTGAGAAAT___TGGTAGAGCTTTGTGTTCAGTATGGACAGAATGAGGAGGGAATGGTAGGCGAGCTTATAGCCTTCTGCACCAGCACACATAAAGTTGGCCTTACCTCAGAGATCCTGAACTCTTTTGAGCATGAG___TTTCTGAGCAAAAGATTATCGAAAGCCAGGCATAGTACCTGCAAGGACAGTGGCCATGCAGGAGCTAGAGACATTGTTTCCATTCAAGAGCT___AATTGAAGTGGAAGAAGAAGAGGAAATCCTCTTGAACTCTTACACCACACCTTCAAAG___GGTTCTCAGAAGCGAGCTATCTCTACCCCAGAAACCCCCCTAACAAAAAGGAGTGTGTCAACTCGTAGCCCCCATCAGCTACTCTCACCGTCAAGTTTCTCTCCAAG___TGCTACTCCCTCCCAGAAATACAACTCACGAAGTAACCGAGGAGAAGTGGTTACCTCCTTCGGCTTAGCACAGGGAGTATCTTGGTCTGGGAGAGGAGGAGCTGGAAACATCAGCCTGAAGGTCTTGGGATGTCCAGAGGCACTAACTGGGAGCTACAAATCCATGTTTCAGAAGCTCCCAGACATTCGAGAAG___TTCTGACCTGTAAGATAGAAGAACTTGGCAGCGAACTCAAGGAACATTACAAGATTGAAGCTTTCACTCCTTTGCTAGCCCCAGCACAG___GAGCCTGTCACTCTGCTGGGCCAGATTGGCTGTGATAGCAACGGGAAGCTGAACAACAAGTCAGTGATTCTCGAGGGAGACCGGGAACATTCCTCGGGTGCTCAAATTCCAGTGGATTTATCTGAGCTTAAGGAATATTCTCTGTTTCCTGGACAG___GTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAG___GGTGTGCCACTTCCATTTTATCAGCCCACTGAAGAGGATGCAG___ACTTTGAGCAAAGCATGGTCCTGGTTGCCTGTGGACCATACACCACATCTGACAGCATCACGTATGACCCCCTGCTTGACCTGATTGCTGTCATCAACCATGACCGGCCAGATGTCTGCATCCTG___TTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAG___AATTGTCTACTGACAAGTCCATTTGAAGACATTTTCAAGCAGTGTCTACGAACAATTATTGAAGGCACAAGAAG___CTCCGGCTCCCACCTTGTCTTTGTCCCGTCATTGAGAGATGTGCACCATGAGCCTGTGTACCCCCAGCCGCCTTTCAGCTACTCCGATCTGTCTCGAGAGGACAAAAAG___CAAGTACAGTTTGTGTCCGAGCCCTGCAGCCTCTCCATAAACGGAGTGATCTTCGGCTTGACATCCACAGATCTGCTTTTCCACCTGGGGGCCGAGGAGATCAGTAG___TTCTTCCGGAACTTCA)GACAGATTCAGCCGAATACTCAAGCACATCTTGACCCAGAGGAG___CTACTACCCACTCTACCCGCCCCAAGAAGACATGGCCATTGACTATGAGTCGTTCTATGTTTACGCACAGCTGCCTGTCACCCCAGATGTCCTCATCATCCCGTCAGAGCTGAGGTACTTCGTGAAG|TTCTGCACCCCAGGAAACCCCTCGGTCCCAGACAAATGGAGAAGATTGGGCATCCTCCTGTAGGAGTTTACAAGCTGATCATGTTGGGAAAACCATGTCTTTTAAAAGTATGTATCCCAAGACTCTGCTGGGCATATAATAAATAGCAAATATTCACTTATCCTGGACACTAACTGGAATGCTTTCAAAAGAGACTGTTTTCCCAGACAATTCCCAAAAATTTACTAATACTACCCTCACATGATTAGAATTATCTCAGAAAATCTTTT MSASAQQLAEELQIFGLDCEEALIEKLVELCVQYGQNEEGMVGELIAFCTSTHKVGLTSEILNSFEHEFLSKRLSKARHSTCKDSGHAGARDIVSIQELIEVEEEEEILLNSYTTPSKGSQKRAISTPETPLTKRSVSTRSPHQLLSPSSFSPSATPSQKYNSRSNRGEVVTSFGLAQGVSWSGRGGAGNISLKVLGCPEALTGSYKSMFQKLPDIREVLTCKIEELGSELKEHYKIEAFTPLLAPAQEPVTLLGQIGCDSNGKLNNKSVILEGDREHSSGAQIPVDLSELKEYSLFPGQVVIMEGINTTGRKLVATKLYEGVPLPFYQPTEEDADFEQSMVLVACGPYTTSDSITYDPLLDLIAVINHDRPDVCILFGPFLDAKHEQVENCLLTSPFEDIFKQCLRTIIEGTRSSGSHLVFVPSLRDVHHEPVYPQPPFSYSDLSREDKKQVQFVSEPCSLSINGVIFGLTSTDLLFHLGAEEISSSSGTSDRFSRILKHILTQRSYYPLYPPQEDMAIDYESFYVYAQLPVTPDVLIIPSELRYFVK|fctpgnpsvpdkwrrlgill* 03BR010 ENSG00000020256.20 ENSG00000054965.10(771),ENSG00000270323.1(41519) -/- ./- chr20:52160123 chr11:73598960 CDS/splice-site intergenic translocation 1 4 0 38 11 high out-of-frame . C2H2-type_zinc_finger(100%)| . . ENSG00000020256.20 . ENST00000371518.6 . upstream downstream . ^(ACATCCGTCCTCCCCGCCTCGCAGAGTTGGGAGAAGGCAGGGTGGGGGGTGTGGAAAAATAAAAGGAAAAGTCCTTGCACCATGTAGATCAGCGTCCCCCACTTTGGCATCCCGGCCGGCCGGGGACCTCCCAGTCTGCGGCCATGAACGCGAGCAGCGAGGGCGAGAGCTTCGCGGGCTCGGTGCAAA___TTCCAGGTGGCACAACGGTGCTGGTGGAGCTGACTCCCGACATCCATATCTGCGGCATCTGCAAGCAGCAGTTTAACAACCTGGATGCCTTTGTAGCTCACAAGCAAAGTGGCTGCCAGCTGACAGGCACATCCGCAGCAGCCCCCAGCACGGTCCAGTTTGTATCGGAGGAAACAGTGCCTGCCACCCAGACTCAGACCACCACCAGAACCATCACCTCGGAGACCCAGACAATCACAG___TTTCAGCTCCAGAATTTGTTTTTGAACATGGCTATCAAACTTACCTGCCCACGGAAAGTAATGAAAACCAGACAGCCACTGTCATCTCTCTCCCTGCCAAGTCACGCACCAAAAAGCCCACAACACCACCTGCTCAGAAAAGGCTTAACTGTTGCTATCCAG___GTTGCCAATTCAAGACTGCTTATGGCATGAAGGACATGGAGCGGCATTTAAAAATTCACACGG___GAGACAAACCCCATAAGTGTGAAGTCTGTGGCAAGTGCTTTAGCCGGAAAGACAAGCTGAAAACTCACATGCGGTGCCACACGGGCGTGAAGCCCTACAAGTGTAAGACGTGTGACTACGCCGCTGCCGACAGCAGCAGCCTCAACA)AGCACCTGAGGATCCACTCGGACGAGCGGCCCTTCAAATGCCAGATCTGCCCCTACGCCAGCCGCAACTCCAGCCAGCTCACTGTCCACCTGCGATCCCACACGG|GTAAATTCTTAAAAGTAATGGAGCTGGGTCAAGAAGAGGATATGCCCTTTGTCGTTTGGATTCAAGTTGCCGAATCGTCCTCAAATTTGCAGGGAGACCAGCGAGGAAGCTCCGGCATTAGTTCTGGTGAGAGACAGCTGAAACGGAGATGGCGAGGGATGAACAGAATCACAGGTGATCTAGCCCATCAAGG MNASSEGESFAGSVQIPGGTTVLVELTPDIHICGICKQQFNNLDAFVAHKQSGCQLTGTSAAAPSTVQFVSEETVPATQTQTTTRTITSETQTITVSAPEFVFEHGYQTYLPTESNENQTATVISLPAKSRTKKPTTPPAQKRLNCCYPGCQFKTAYGMKDMERHLKIHTGDKPHKCEVCGKCFSRKDKLKTHMRCHTGVKPYKCKTCDYAAADSSSLNKHLRIHSDERPFKCQICPYASRNSSQLTVHLRSHT|gkflkvmelgqeedmpfvvwiqvaesssnlqgdqrgssgissgerqlkrrwrgmnritgdlahq 03BR010 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 1 2 0 116 8 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAG)CAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAG(TCACCAGTGTCAAG___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 03BR010 ENSG00000138768.14 ENSG00000246375.3 +/+ +/+ chr4:75757573 chr4:88311796 CDS/splice-site exon/splice-site deletion 1 2 0 36 2 high out-of-frame . . . . ENSG00000138768.14 ENSG00000246375.3 ENST00000264904.8 ENST00000652965.1 downstream upstream . ^(AGCCGCCACGTAATGCCACGTCCCCGCGCATGCGCATCTTGGCCGCTGCTGGCGGCTGTTTCCGGGCTTAGAGGGCTGGAGTGGCCGCCGAGTTGGAGGCGGTGGTGGCAGCAGTAGGAGTGTGTAGAGTGCGGGATTGGGGCCCAGGCCCTGCGGAGGGCGGGGGAAGTTGTCTTCTTTTTTTTCCGGAGGGGCCGGTAAACCTGGTGGCTGAACGGCAAGATGAATTTCCTCCGCGGGGTAATGGGGGGTCAGAGTGCCGGACCCCAGCACACAGAAGCCGAGACG___ATTCAAAAGCTTTGTGACAGAGTAGCTTCATCTACTTTATTGGATGATCGAAGAAATGCTGTTCGTGCTCTCAAATCATTATCTAAG___AAATACCGCTTGGAAGTG)GGTATACAAGCTATGGAACATCTTATTCATGTTTTACAAACAGATCG___TTCAGATTCTGAAATAATAGGTTATGCTTTGGACACACTATATAATATAATATCTAATGAAGAAGAAGAAGAAGTAG|CCACTCGATGTCTTTTGATTGGAGAGTTTAATCAAACAGAAGGAGTCTTCCATTGTGGCCACCACAGCTGGGAATG___AGCTAAGGTCTTGCTATGTTGCCTAGACTGGTTTTGAACTCCTGGGCTGAAGCAATCCTCCCACTTCGGCCTCTCAAAGTGCTGGGATATCAGAC(ATGAGCCACCTGCCATGCTTGGCCTAT___AATCATGAAAAGATCAACCCCAAGAAAGAAAAGGAAACATGGAAGGACCTGGACTGGAGTCACGCCAGTACAAGGAGGATACTGGCAAAGATGAG___GCTAGTCAAGTGGAGCAGTGGGAGTGAAGATGGAATAAAGAAATCCATAACTGGTTGTGATTAAGTAGTTGTAAACACCAACTGCACTCAGACCAACCCATATATATATTTTTAATTGTAAGCATAGTATATATAAAACTTCAATTCCTGCTTTTTTTTACCTAACATTATATCATATGCATTTTCCATACTGTTTCACAATTCCTTGTATTCGTAATTGTTTAATCCTGCAAAATAATGCTTCGAATGAACATATGATCATTTCCTTAAGTATTCCCCTACTATTAGAAGTGAAGTTTCTTCCAGCATTTTTCTCTTTGCTGTGATGAATATTTTTAAGTATAGAGATTTTTCAGTTTGGTTATGAGTTTTTGAAAATCTACTTTACCAAAAACAAAGAAAACCCATGTCTTTCTTTAGTACCTTTGCCAAGATATTACTTTTACTTGACATTCAACAAGTATAGGATGAAAGTACACAAGTCTGCAAGGGACCTTGGAAGTAACTTGTTTCTGTCTAATTTCTATAAAATTTCCAGGAGATAGTCATACAGCTTTAATTTGATCGCATCCACTAGTTTTGGCATTGGTATTGCCATATTGATTATGGACACATAAAACTGTAACTCCTGGAGCCAACCTCTCAGGCTTTCCTACATGAAACCAATGCCACCATCCCACCCGCACTCTAGCACCTTCTATCCACTGATTTTAGTCATTGACTTGCTCTCTTCCTCTTTCTGTTTGTTGTCTTCCAGTTTGTCTCTTTCATTCCTCCCCTCCCTTCTCTATCCTGCTCTCTGACCCAAGAGGCTGACCTGTATGAACCACATCAGTGATTGGCTGGTGGGGCCCCCCAGCAAAGAGGATGGAGTGAAGTGAGGGTATTTACTTGCTTAATTGCCTCCAGGCTGGGTCACTCACAGCTGGCCATGTCCTTCCATCAAAGATCAGAGCTCTCCTCAAGGTAGCCCTCTCCACAAACTTTCTTGAGTTTCTCTTTCTGGGTTTTGTTAACCATTTTCTCAACTTGTCCCTTCATGCCTAGAGGTAATAGCAGGTGGGGAATGCTGTGCTATTCCATTTGGTTTTCCTGCACCCTTCCCATGTTTGTATGTAGTCCCTTTCATCAAAGTACTGGGACTGTCCTAATTCGAATGTGCCATCTTTTTTGTTTCCTGCTAAGAACTGTTCAACTCACTCT)$ MNFLRGVMGGQSAGPQHTEAETIQKLCDRVASSTLLDDRRNAVRALKSLSKKYRLEVGIQAMEHLIHVLQTDRSDSEIIGYALDTLYNIISNEEEEEV|atrclligefnqtegvfhcghhswe* 03BR010 ENSG00000089597.18 ENSG00000150995.19 -/- +/+ chr11:62625711 chr3:4757076 3'UTR intron translocation 9 9 4 264 62 medium stop-codon . Galactose_mutarotase-like(100%),Glycosyl_hydrolases_family_31_(100%)|Ion_transport_protein(100%),RyR_and_IP3R_Homology_associated(100%) . . ENSG00000089597.18 ENSG00000150995.19 ENST00000540933.5 . upstream upstream mismatches(11) ^(AGACAGCTGCCCGGCGGCGCTCAGGTCGAACCAATCATAAGGCCGGAAGGGGCGGGAACTAGGATACGTGGCTGAGCGCGCGCGATGGGGCGGGAGGTTTGGGGTCAAGGAGCAAACTCTGCACAAGATGGCGGCGGTAGCGGCAGTGGCGGCGCGTAGGAGGCG___GTCTTGGGCGTCTTTGGTACTGGCTTTTTTAGGGGTCTGCCTGGGGATTACCCTTGCTGTGGATAGAAGCAACTTTAAGACCTGTGAAGAGAGTTCTTTCTGCAA___GTGTTGCTGGTGCTAGAGCTTCAGGGGCTTCAAAAGAACATGACTCGGTTCAGGATTGATGAGCTGGAGCCTCGGCGACCCCGATACCGTGTACCAGATGTTTTGGTGGCTGATCCACCAATAGCCCG___GCTTTCTGTCTCTGGTCGTGATGAGAACAGTGTGGAGTTAACCATGGCTGAGGGACCCTACAAGATCATCTTGACAGCACGGCCATTCCGCCTTGACCTACTAGAGGACCGAAGTCTTTTGCTTAGTGTCAATGCCCGAGGACTCTTGGAGTTTGAGCATCAGAGGGCCCCTAGGGTCTC___GCAAGGATCAAAAGACCCAGCTGAGGGCGATGGGGCCCAGCCTGAGGAAACACCCAGGGATGGCGACAAG___CCAGAGGAGACTCAGGGGAAGGCAGAGAAAGATGAGCCAGGAGCCTGGGAGGAGACATTCAAAACTCACTCTGACAGCAAGCCGTATG___GCCCCATGTCTGTGGGTTTGGACTTCTCTCTGCCAGGCATGGAGCATGTCTATGGGATCCCTGAGCATGCAGACAACCTGAGGCTGAAGGTCACTGA___GGGTGGGGAGCCATATCGCCTCTACAATTTGGATGTGTTCCAGTATGAGCTGTACAACCCAATGGCCTTGTATGGGTCTGTGCCTGTGCTCCTGGCACACAACCCTCATCGCGACTTGGGCATCTTCTGGCTCAATGCTGCAGAGACCTGGGTTGATATATCTTCCAACACTGCCGGGAAG___ACCCTGTTTGGGAAGATGATGGACTACCTGCAGGGCTCTGGGGAGACCCCACAGACAGATGTTCGCTGGATGTCAGAGACTGGCATCATTGACGTCTTCCTGCTGCTGGGGCCCTCCATCTCTGATGTTTTCCGGCAATATGCTAGTCTCACAG___GAACCCAGGCGTTGCCCCCACTCTTCTCCCTCGGCTACCACCAGAGCCGTTGGAACTACCGGGACGAGGCTGATGTGCTGGAAGTGGATCAGGGCTTTGATGATCACAACCTGCCCTGTGATGTCATCTGGCTAGACATTGAACATGCTGATGGCAAGCGGTATTTCACCTGGGACCCCAGTCGCTTCCCTCAGCCCCGCACCATGCTTGAGCGCTTGGCTTCTAAGAGGCGGAAG___CTGGTGGCCATCGTAGACCCCCACATCAAGGTGGACTCCGGCTACCGAGTTCACGAGGAGCTGCGGAACCTGGGGCTGTATGTTAAAACCCGGGATGGCTCTGACTATGAGGGCTGGTGCTGGCCAG___GCTCAGCTGGTTACCCTGACTTCACTAATCCCACGATGAGGGCCTGGTGGGCTAACATGTTCAGCTATGACAATTATGAG___GGCTCAGCTCCCAACCTCTTTGTCTGGAATGACATGAACGAACCATCTGTGTTCAATGGTCCTGAGGTCACCATGCTCAAGGATGCCCAGCATTATGGGGGCTGGGAGCACCGGGATGTGCATAACATCTATGGCCTTTATGTG___CACATGGCGACTGCTGATGGGCTGAGACAGCGCTCTGGGGGCATGGAACGCCCCTTTGTCCTGGCCAGGGCCTTCTTCGCTGGCTCCCAGCGCTTTG___GAGCCGTGTGGACAGGGGACAACACTGCCGAGTGGGACCATTTGAAGATCTCTATTCCTATGTGTCTCAGCTTGGGGCTGGTGGGACTTTCCTTCTGTGGGG___CGGATGTGGGTGGCTTCTTCAAAAACCCAGAGCCAGAGCTGCTTGTGCGCTGGTACCAGATGGGTGCTTACCAGCCATTCTTCCGGGCACATGCCCACTTGGACACTGGGCGACGAGAGCCATGGCTGTTACCATCTCAGCACAATGATATAATCCGAGATGCCTTGGGCCAGCGATATTCTTTGCTGCCCTTCTGGTACACCCTCTTATATCAGGCCCATCGGGAAGGCATTCCTGTCATGAG___GCCCCTGTGGGTGCAGTACCCTCAGGATGTGACTACCTTCAATATAGATGATCAGTACTTGCTTG___GGGATGCGTTGCTGGTTCACCCTGTATCAGACTCTGGAGCCCATGGTGTCCAGGTCTATCTGCCTGGCCAAGGGGAG___GTGTGGTATGACATTCAAAGCTACCAGAAGCATCATGGTCCCCAGACCCTGTACCTGCCTGTAACTCTAAGCAGT___ATCCCTGTGTTCCAGCGTGGAGGGACAATCGTGCCTCGATGGATGCGAGTGCGGCGGTCTTCAGAATGTATGAAGGATGACCCCATCACTCTCTTTGTTGCACTTAGCCCTCAG___GGTACAGCTCAAGGAGAGCTCTTTCTGGATGATGGGCACACGTTCAACTATCAGACTCGCCAAGAGTTCCTGCTGCGTCGATTCTCATTCTCTGGCAACACCCTTGTCTCCAG___CTCAGCAGACCCTGAAGGACACTTTGAGACACCAAT)CTGGATTGAGCGGGTGGTGATAATAGGGGCTGGAAAGCCAGCAGCTGTGGTACTCCAGACAAAAG___GATCTCCAGAAAGCCGCCTGTCCTTCCAGCATGACCCTGAGACCTCTGTGTTGGTCCTGCGCAAGCCTGGCATCAATGTGGCATCTGATTGGAGTATTCACCTGCGATAACCCAAGGGATGTTCTGGGTTAGGGGGAGGGAAGGGGAGCATTAGTGCTGAGAGATATTCTTTCTTCTGCCTTGGAGTTCGGCCCTCCCCAGACTTCACTTATGC|AATTGCCCAC?ATCACATGGCTGGATAGCAAGGAGCCAAGGCCAAAATGTAGGTTTCCCGAGTTCCAGTTCTCCAGGCACTCTCTGCCTACCCAGGTGTGTTTTATTACCTAGTTCATGGTTCCTGGTCTTTGAGTTTTGATTGTAATCATTGGTTTCTAAAAAAGGACTCCAGACCCACAGCAGTCATTGTGTGACAATGGTTTTGTTAATAATTTATTACCC . 03BR010 ENSG00000124942.14 ENSG00000233499.1(6849),ENSG00000273408.1(13971) -/+ ./- chr11:62517678 chr11:58373612 CDS intergenic inversion 2 5 0 1105 11 medium . . . . . ENSG00000124942.14 . . . downstream downstream mismatches(1) CAGCTCACGGCCAGAGAAGGTAAATTTGGGGATCTTCATTTTAGGGAATGTTACTTTTtCAGATCCACTTTCCAAGTGACCTTGAGGCCCAGcCtCACTCAGCCCAGGAGCCTGGAGTCCAATCTGACCTCCTTTCACACCTCCTTCCACCTTTGGTCCTGAGAAATGAAGGCCCCCAGCAAACTTAGATGTGTCCAAGTTGAGAGCAGAGGAGACTTGGGGTCCCTTCCACTCACCCCCGGAACCTTTAACACTCAAATGCCCTTtACCAAGGCTGATGT|ATTAGTAATCTACCaAACATTTGATATGTGCTAGAAATTGTTCTTTGCTTTGCAATATGTGATATGATAATCTTGGCAATTTCAAAAGGATGAGATGACATTATCTCCTTTCTTACAGAAGAGAAATTAAAGTTAGTG . 03BR010 ENSG00000054793.14 ENSG00000137672.13 -/- -/- chr20:51651826 chr11:101451668 intron 3'UTR translocation 1 0 2 5 3 medium out-of-frame . Cation_transport_ATPase_(P-type)(100%),E1-E2_ATPase(100%),Phospholipid-translocating_ATPase_N-terminal(100%)| . . ENSG00000054793.14 ENSG00000137672.13 ENST00000338821.6 ENST00000344327.8 upstream downstream . ^(AAGGCGGGCGGCGCCGCCGACATGACGGACAACATCCCGCTGCAGCCGGTGCGCCAGAAGAAGCGGATGGACAGCAGGCCCCGCGCCGG___GTGCTGCGAGTGGCTGAGATGCTGCGGTGGAGGGGAGGCCAGGCCCCGCACTGTCTGGCTGGGGCACCCCGAGAAGAGAGACCAGAGGTATCCTCGGAATGTCATCAACAATCAGAAGTACAATTTCTTCACCTTTCTTCCTGGG___GTGCTGTTCAACCAGTTCAAATACTTTTTCAACCTCTATTTCTTACTTCTTGCCTGCTCTCAGTTTGTTCCCGAAATGAGACTTGGTGCACTCTATACCTACTGGGTTCCCCTG___GGCTTCGTGCTGGCCGTCACTGTCATCCGTGAGGCGGTGGAGGAGATCCGATGCTACGTGCGGGACAAGGAAGTCAACTCCCAGGTCTACAGCCGGCTCACAGCACGAG___GCACAGTGAAGGTGAAGAGTTCTAACATCCAAGTTGGAGACCTTATCATCGTTGAAAAG___AACCAGCGGGTCCCTGCCGACATGATCTTCCTGAGGACATCAGAAAAAAACG___GGTCATGCTTCTTGCGGACGGATCAGCTGGATGGGGAGACGGACTGGAAGCTGCGGCTTCCCGTGGCCTGCACGCAGAGGCTCCCCACGGCCGCC___GACCTTCTTCAGATTCGATCGTATGTGTACGCAGAAGAGCCAAATATTGACATTCACAACTTCGTGGGAACTTTTACCCGA___GAAGACAGCGACCCCCCGATCAGCGAGAGCCTGAGCATAGAGAACACGCTGTGGGCTGGCACTGTGGTCGCATCAG___GTACTGTTGTGGGTGTTGTTCTTTACACTGGCAGAGAACTCCGGAGTGTCATGAATACCTCAAATCCCCGAAGTAAG___ATCGGCCTGTTCGACTTGGAAGTGAACTGCCTCACCAAGATCCTCTTTGGTGCCCTGGTGGTGGTCTCGCTGGTCATGGTTGCCCTTCAGCACTTTGCAGGCCGTTGGTACCTGCAGATCATCCGCTTCCTCCTCTTGTTTTCCAACATCATCCCCATTAG___TTTGCGTGTGAACCTGGACATGGGCAAGATCGTGTACAGCTGGGTGATTCGAAGGGACTCGAAAATCCCCGGGACCGTGGTTCGCTCCAGCACGATTCCTGAGCAGCTGGGCAGGATTTCGTACTTACTCACAGACAAGACAG___GCACTCTTACCCAGAACGAGATGATTTTCAAACGGCTCCATCTCGGAACAGTAGCCTACGGCCTCGACTCAATGGACGAAGTACAAAGCCACATTTTCAGCATTTACACCCAG___CAATCCCAGGACCCACCGGCTCAGAAGGGCCCAACGCTCACCACTAAGGTCCGGCGGACCATGAGCAGCCGCGTGCACGAAGCCGTGAAGGCCATCGCGCTCTGCCACAACGTGACTCCCGTGTATGAGTCCAACGGTGTGACTG)ATCAGGCTGAGGCCGAGAAGCAGTACGAAGACTCCTGCCGCGTATACCAGGCATCCAGCCCCGATGAG___GCGCTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGTGGTGTGATCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAACCATTCTTCTGCCTCAGCC|CAGATCAGAAAATACAGCTGAAAATTTATATTCAGTGATTTTGTATTTGTGGATACTACTTATGGAAAAGTTACTTGGTGATACATAAAGATCGATTTTCAAATA$ MTDNIPLQPVRQKKRMDSRPRAGCCEWLRCCGGGEARPRTVWLGHPEKRDQRYPRNVINNQKYNFFTFLPGVLFNQFKYFFNLYFLLLACSQFVPEMRLGALYTYWVPLGFVLAVTVIREAVEEIRCYVRDKEVNSQVYSRLTARGTVKVKSSNIQVGDLIIVEKNQRVPADMIFLRTSEKNGSCFLRTDQLDGETDWKLRLPVACTQRLPTAADLLQIRSYVYAEEPNIDIHNFVGTFTREDSDPPISESLSIENTLWAGTVVASGTVVGVVLYTGRELRSVMNTSNPRSKIGLFDLEVNCLTKILFGALVVVSLVMVALQHFAGRWYLQIIRFLLLFSNIIPISLRVNLDMGKIVYSWVIRRDSKIPGTVVRSSTIPEQLGRISYLLTDKTGTLTQNEMIFKRLHLGTVAYGLDSMDEVQSHIFSIYTQQSQDPPAQKGPTLTTKVRRTMSSRVHEAVKAIALCHNVTPVYESNGVTDQAEAEKQYEDSCRVYQASSPDEallrqslalspsgvilahcnlrlpgsnhssasa|qirkys* 03BR010 ENSG00000171940.13 ENSG00000255240.6(26305),ENSG00000255151.2(1343) -/- ./+ chr20:53593756 chr11:59084964 5'UTR/splice-site intergenic translocation 0 3 0 32 37 medium out-of-frame . . . . ENSG00000171940.13 . ENST00000371471.6 . upstream upstream . ^(ATTCAAACCCGGCCGGCCCGAGTGGTGTCAGCTCAGTCCCGGCCGCCGCCGCGC)GAGGAAATGGCCGAGGAGCCGGAGCCGCAG|ATTGTGTCAGAAGCAGAATCTGAAGTGGAGCTTCTAGTATCCCCAGGAGCACTGAGTAAACACAGAAGGTACCTGCAGGATCCACTTGTGTCCATTGATCTCTCAGAGCAGCTGAGGATCAAAG___AGTTTTTTTCTTGAAG 03BR010 ENSG00000134824.14 ENSG00000255240.6(26305),ENSG00000255151.2(1343) +/+ ./+ chr11:61816426 chr11:59084964 CDS/splice-site intergenic duplication 0 2 0 12 37 medium out-of-frame . . . . ENSG00000134824.14 . ENST00000257261.10 . downstream upstream . ^(AGAGACCTGAGGCTCGGGGCTGCAGATGGAATGCACGGCAGGGAGGCGGGACCCTTTGTTTGTGTGTGCGTGTTGTTGGCCTCCATCCCCACTCCCCAGA)CTCCACTTCTCCAGGCCTCTCTCCCGCCTTTTCATCCCGCATCCGCAGGACACCCAATCACCGGGCAACAG|ATTGTGTCAGAAGCAGAATCTGAAGTGGAGCTTCTAGTATCCCCAGGAGCACTGAGTAAACACAGAAGGTACCTGCAGGATCCACTTGTGTCCATTGATCTCTCAGAGCAGCTGAGGATCAAAG MHGREAGPFVCVCVLLASIPTPQTPLLQASLPPFHPASAGHPITGQQ|ivseaesevellvspgalskhrrylqdplvsidlseqlrik 03BR010 ENSG00000149480.7 ENSG00000054803.4(188105),ENSG00000222118.1(11428) -/- ./+ chr11:62601423 chr20:56193624 CDS/splice-site intergenic translocation 0 2 0 21 8 medium out-of-frame . BAH_domain(100%)| . . ENSG00000149480.7 . ENST00000278823.7 . upstream upstream . ^(AGTGGGCCTTGTTCTCCGGATCGGCCGAAGGTGTTCCGGAAGGAGGCGAACCCTGAGGCGGGCCCGGCAAGCCTTCCCTGCGGCCGGCAGAGCCCAACGACTAGTGGGACTCCGCGGGGGCGGGGGTAGCTGGAGCCTGGCTCTGGCCTGGCAGGAGCCGAGCTCGTTCCGGAAGAAGCCGAGCGGACGGGGGCCAGCCTCAGCGTCCCGGGAGTGAGGCGATAGCTGCGGCGGCGACAGCGCGGGCCGGGATGAACCGCGACGGCTGAGGCAGCGGAGGTGCCGGCTGCGCGGGCCCCAGTGAGACTCCCTCGAAGCGGCAGCCCACCGTTCGGGGCTTTGCCTCGAGCCGAGCCCTGCCCCCGCGAGCCTCCCGGACC)CCTTTGTGCGGCCGGAGGCGGCGGCGGGAACGGCCATGGCGGCCAACATGTACCGGGTGGGAG|GTACCACCTCACCTGCTCACATAGGACCTCCAGGTTTGCCTGCAAAACCAACCACCTTCAACCGTAACTATGTCTAGGCGTCCTTGAAGGACTCTGAGAAAATATTTCTATGTTCTTTTACAGCCTCCAACTTAAAAAAAGCCACTGTCCTTTGTGGAGGGTCTCCTCACTGCCATGGTGGCTGGTGTCCTCCAAG MAANMYRVG|gttspahigppglpakpttfnrnyv* 03BR013 ENSG00000279470.1(13146),ENSG00000248789.5(30440) ENSG00000251601.1 ./+ -/- chr5:51977591 chr5:50933810 intergenic exon/splice-site inversion 24 20 0 124 33 high . . . . . . ENSG00000251601.1 . ENST00000514113.1 downstream downstream duplicates(6) GCATGAGTGACTATGCTGGCACAAACTTACGGCAATTTGAGACTAAGGCTTAGAGTCCATTTAATAAAG___TGATCTAGACTCACGTAGTTCATCAGAACATAGGAGAAAGGAAAAGTCATTTCAACTCCAGAAGGTGACCTGGATCCTATCTAGCACCTCAG|AATATCCAGAACTATTCCTAAGCCACATCGTGTATTATTATCAAATGGCCTGTGAAGCAGATTCTCTTGCTGGGACAGTTTTTAAGACCTCTCTATACTGAATTGGGACACTGCCTGGAAGTTGTCCAAACTCTGCCTTTTGAAAGAATATTGATGACTAAGAAAACTTGCCCTGAATAAACTAATGTTAGGACACAG___GAAAGCACCCTCACTTCAAGTCATGTTCATTCC(ACAATCTCATATTTCAGATGTCATGGTTGCAGGATTGGTCGTGTTGTGTTGGAGCTGAGAAGAGGCAGTGCCCATCAATCAGCAGTTCCTGC)$ . 03BR013 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 16 12 0 28 30 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismappers(2) GGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGC(CTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 03BR013 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 7 8 0 62 31 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1),mismatches(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCT)GTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 03BR013 ENSG00000130822.16(12140),ENSG00000130821.16(1425) ENSG00000130822.16 ./- -/- chrX:153686501 chrX:153673078 intergenic CDS/splice-site deletion/read-through 6 8 0 16 28 high . . |Protein_kinase_domain(100%) . . . ENSG00000130822.16 . ENST00000447676.6 upstream downstream . GGGGCATTAGAGAAGTGACTCATAGATGGCCTAAAGAAGCGGGGCCACTCAAGGACCCAGGACAGAGGGAAGAGGGCCAACCCAGCTGGACCACAGGCAAACCCCATTGCCTTTGAGAGAAAGAAGAGGACCCGGTGAA|ACATGCTGCTGCTGAAGAAACACACGGAGGACATCAGCAGCGTCTACGAGATCCGCGAGAGGCTCGGCTC___GGGTGCCTTCTCCGAGGTGGTGCTGGCCCAGGAGCGGGGCTCCGCACACCTCGTGGCCCTCAAGTGCATCCCCAAGAAGGCCCTCCGGGGCAAGGAGGCCCTGGTGGAGAACGAGATCGCAGTGCTCCGTAG___GATCAGTCACCCCAACATCGTCGCTCTGGAGGATGTCCACGAGAGCCCTTCCCACCTCTACCTGGCCATGGAACT___GGTGACGGGTGGCGAGCTGTTTGACCGCATCATGGAGCGCGGCTCCTACACAGAG(AAGGATGCCAGCCATCTGGTGGGTCAGGTCCTTGGCGCCGTCTCCTACCTGCACAGCCTGGGGATCGTGCACCGGGACCTCAAG___CCCGAAAACCTCCTGTATGCCACGCCCTTTGAGGACTCGAAGATCATGGTCTCTGACTTTGGACTCTCCAAAATCCAGGCTGGGAACATGCTAGGCACCGCCTGTGGGACCCCTGGATATGTGG___CCCCAGAGCTCTTGGAGCAGAAACCCTACGGGAAGGCCGTAGATGTGTGGGCCCTGGGCGTCATCTCCTACATCCT___GCTGTGTGGGTACCCCCCCTTCTACGACGAGAGCGACCCTGAGCTCTTCAGCCAGATCCTGAGGGCCAGCTATGAGTTTGACTCTCCTTTCTGGGATGACATCTCAGAATCAG___CCAAAGACTTCATCCGGCACCTTCTGGAGCGAGACCCCCAGAAGAGGTTCACCTGCCAACAGGCCTTGCGGCACCTTTG___GATCTCTGGGGACACAGCCTTCGACAGGGACATCTTAGGCTCTGTCAGTGAGCAGATCCGGAAGAACTTTGCTCGGACACACTGGAAG___CGAGCCTTCAATGCCACCTCGTTCCTGCGCCACATCCGGAAGCTGGGGCAGATCCCAGAGGGCGAGGGGGCCTCTGAGCAGGGCATGGCCCGCCACAGCCACTCAGGCCTCCGTGCTGGCCAGCCCCCCAAGTGGTGATGCCCAG___GCAGATGCCGAGGCCAAGTGGACTGACCCCCAGATTTCCTTCCCTTGGATGCTTTCGGTCCCCTCCCCCAACCCCTCCCCCTGGGGCTGGCCTCTGCTGGATTTTGAGATT)$ . 03BR013 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 7 6 0 158 39 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAA)ATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 03BR013 ENSG00000153310.19 ENSG00000153310.19(20768),ENSG00000153317.15(14664) -/- ./- chr8:129862229 chr8:130037440 CDS/splice-site intergenic duplication 5 7 0 347 22 high out-of-frame . . . . ENSG00000153310.19 . ENST00000519110.5 . upstream downstream mismappers(2) ^(GGGGAGGCGCGTCGCGAGGCGAGCGTCCTCCTTTTGTGCGAGCGCCGGCGGCTCGGCTTCTCGAAG___GAGAAGAAACTGAGGCCTGGAATTTGATTAACTCATTCAAGGTTACCCAGTTG___GTAATTCATTTGCACACCTGTTAGCAAGAAACAGAAGTTGAAGGACTGGAACAAGTGAACTAGGAAAGAGGGAACGCCAATCCAAGG___ATAGAAGGACAAGGACAGAATCACCAGCACTGGCTGAAG___GTACCTTAACATGGGGAATCTTCTTAAA)GTTTTGACATGCACAGACCTTGAGCAGGGGCCAAATTTTTTCCTTGATTTTGAAA___ATGCCCAGCCTACAGAGTCTGAGAAGGAAATTTATAATCAGGTGAATGTAGTATTAAAAGATGCAGAAGGCATCTTGGAGGACTTGCAGTCATACAGAGGAGCTGGCCACGAAATACGAGAG___GCAATCCAGCATCCAGCAGATGAGAAGTTGCAAGAGAAGGCATGGGGTGCAGTTGTTCCACTAGTAGGCAAATTAAAGAAATTTTACGAATTTTCTCAGAGGTTAG|AAATTAGCCGGGCGTGGTGACACGTGCCTGTGATTCCAGCTACTTGGGCGGCTGACACACAAGAATCACTTGTACCCAGAGGGCGGAGGTTGCAATGAGTCAAGATCACGCCACTGCACTCCAGCCTGGACAACAGAGCAAGAATGTCTCAAAATGAATAAATAAATAAATAAATAAATAAATAAGCAAGC MGNLLKVLTCTDLEQGPNFFLDFENAQPTESEKEIYNQVNVVLKDAEGILEDLQSYRGAGHEIREAIQHPADEKLQEKAWGAVVPLVGKLKKFYEFSQRL|eisraw* 03BR013 ENSG00000177570.14 ENSG00000229140.10 -/- -/- chr8:118379560 chr8:129399684 CDS/splice-site exon/splice-site duplication 6 3 0 49 3 high out-of-frame . SAM_domain_(Sterile_alpha_motif)(100%)| . . ENSG00000177570.14 ENSG00000229140.10 ENST00000524796.6 ENST00000664043.1 upstream downstream . ^(GACCGCGGCAGGTTGGTCCTGGAGCAGATAAGCGCAGAATATTTAGGCGAAAGCGAGAGGAAGGGGGGAGCGCGGGGCAGGAGGAGTACCTCGGCCAAGAAAATTATGCATGCGTTAGGGAAGCTCTGAGAGAATGGCTGTGGAAG___CTCTCCACTGTGGTTTGAATCCACGGGGTATTGATCACCCTGCCCATGCTGAAGGTATTAAACTGCAAATTGAAGGTGAAGGTGTGGAATCTCAATCCATTAAAAATAAAAATTTCCAGAAGGTGCCTGACCAGAAAGGAACTCCCAAGCGACTGCAGGCAGAAGCTGAGACGGCTAAG___TCAGCTACGGTGAAGCTATCTAAACCGGTGGCTCTATGGACCCAGCAGGATGTCTGCAAGTGGTTGAAGAAACATTGTCCGAATCAGTATCAGATCTACAGTGAGTCATTCAAACAGCATGACATAA)CTG___GGCGAGCCCTGCTGAGACTTACTGACAAAAAGCTCGAGCGAATGGGGATTGgCCAGGAGAACCTCCGGCAGCACATCTTACAACAGGTGCTCCAGCTGAAGGTGCGAGAAGAAGTCAGAAATCTACAGTTACTCACACAAG|CAAACTTGGAAATCATGTCTTAGAGATCAAGGAGCCAAGAGATGAGACAAGCCTGGGTTCCTAGGTGATAGGGTGTGGCTGTGTCCCCACCCAAATCTCGTCTTGAATTGTAGCTCCCATAATCCCCACATGTTGTGGAGGGACCCTGTGGAAGGTAATTGAATTATGGAG(___ATTGTGCCTGCAGCCTGGCCTGTTGCCCACAGCGGTCTACCTGCCACACTGGGAAAGATCGAGCAGAGACAGAGAAGAAAAGGAGGCTCCATTTTTCAGGCTGCTCTCCCGCAGGCTCATGTTTTGTGTTCATGCCAGGCAGAGAACACAAAATGTTCCAATAAATAAGTATCAAAG___GCTACACAGAAGCACTGCTGATTTCAGCCCTGGCAGGACTCCTGTTTAAACATACTTCCCAGAAATCTTGGGCAGCTTGCCATG___CATCTACTTGTTTCCAAAGTTATTTGGGTCAGCATTTTCCTCCACCCACCACTTAAAACTGATTTGTTTCATACATTTGAAATGTATGAAAAGCCAGAAATCCAGGACCCACCCTGGCCTGCTCCCTTTTTCTCACCTACTGTGTTAAG___GATAAGTCAATTGAGCTTCACTTCTCTAATTGAAATCACCGTGCTGATGGAGTCTGTCTGTGGAAATGAAAGGTGGCTACCATAATCTGTTGGGAGTTGAATTAATCCTCTGGGAGTGAGGCTGACCTAATTACTCAGAAATACTGGGCTTGCTTTCATTCTGTGGAATACAGCCATGAGAAAGAGGCCAGCATGCCATTTCCTAATCTTTTCTTGAATTGCCTGAAACTCACCTAACATGAAACTGAGAAGCCTTTTCATTTGAAAGTGGTATTTCTTATGTTTTTTATCTTTTTGCTTGAAAGTATTCTTAAACTAAAGAAAGGAGAAACAGAAAAGGTGAAGAAGCCAAGAGGCTGGAGTTTCCTTTTGAATGGATATTCATCCATGAAGCTGTTGATTCTGTTTTTCTGTTCCTCCAGATGTCTACACTTTTACCTCTGCTTGCCTGATACAACCACCACCAGTCACCTCACAGAATAACTCACTCCTTAAGAATCTGATCAGGAATCAGCCTTCCCTGATCACAAACACTGAGTTTAGAAGTCCCTCCACAGTGTCCCCCGTAACCCTGTGCTACCTCACTGCCTCATAGTTTAGTGCCGTTTGTGTACATGCCTATCTTCGTCCATGGATCCAGAACAACTTGTAAAAATGACTGTACTTATCACCTTCAGTATTCAATGACTAAACTATAATTTTAACATATCTGGCAGAATGAATCACTTGGGGATTTCTGCCAACACTACCAATATATTACTCCTAATTTGTAATTATTACTTAGCATGGATTATAGTACCGGCTGTTGGAGAGCCAATGTGGCAGACCCTAAGTGGAATAAAATGTCAGTAGCAGTCTAGGAGCATATATTTATTGGAATAGATCATTCATTCATTTGTTCATTAACTAATTTGTTCATTAAATAAACATTTATTAAG)$ MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQKVPDQKGTPKRLQAEAETAKSATVKLSKPVALWTQQDVCKWLKKHCPNQYQIYSESFKQHDITGRALLRLTDKKLERMGIgQENLRQHILQQVLQLKVREEVRNLQLLTQ|anleims* 03BR013 ENSG00000249859.11 ENSG00000249816.7 +/+ +/+ chr8:127939676 chr8:124941463 exon/splice-site exon/splice-site duplication 2 4 0 31 15 high . . . . . ENSG00000249859.11 ENSG00000249816.7 ENST00000657449.1 ENST00000660300.1 downstream upstream . ^(GGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA___GTGGGAAGTGAGTGATGACCCTGAAGTGAGGACTCATCTCTAGATCTCCAAGGGCTGCAGCTCAGCCAGCACTTTACAAGGGTGATCTGGAGCCAAACTGGCCTGTTGGCTGACCATAGGTGACTCTGGGTAGCCCATACCCAGGCTCAGCAGCAGTTGGGGAGCTGCCTCGATTTCTGGTTACAGAATTCCTGGAACTGAGTCACTGCAGTAATTGCTGTGATGAATTGTGTTTACTTTGTGTGGGATTCCAAACTGTAGCAGCAGTGACTACAGCTGGAAGACAGCATGATCAGCAGCTTCCAAGGCAGAGCCTGGCGTCAGAAAGCTGCATTGCGCTAATGCTGAAGCCTGTGGGAGCCTGTTGGAGAGACACTTGGATGTTTAGCGAGCTGGTGACTCTCCTTGTCATGA___GCCTGATCTTTTGGCCAGAAGGAGATTAAAAAGATGCCCCTCAAGATGGCTGTGCCTGTCAGCTGCATGGAGCTTCGTTCAAGTATTTTCTGAGCCTGATGGATTTACAGTGATCTTCAGTGGTCTGGGGAATAACGCTGGTGGAACCATGCACTGGAATGACACACGCCCGGCACATTTCAGGATACTAAAAGTGGTTTTAAGGGAGGCTGTGGCTGAATGCCTCATGGATTCTTACAGCTTGGATGTCCATGGGGGACGAAGGACTGCAGCTGGCTGAGAGGGTTGAGATCTCTGTTTACTTAGATCTCTGCCAACTTCCTTTGGGTCTCCCTATGGAATGTAAGACCCCGACTCTTCCTGGTGAAGCATCTGATGCACGTTCCATCCGGCGCTCAGCTGGGCTTGAG___CTGACCATACTCCCTGGAGCCTTCTCCCGAGGTGCGCGGGTGACCTT)GGCACATACAGCCATCATGATGGTACTTTAAGTGGAGGCTGAATCATCTCCCCTTTGAGCTGCTTGGCACGTGGCTCCCTTGGTGTTCCCCTTTTACTGCCAGGACACTGAGATTTGGAGAG|GTGAAGGATCTAAAACCTGAAAAGAGGCCAAATGATTCCTCAAAACCACGCAAGTACGAAGTAGCAGAGCGGATCTCAAATCCAG(___AGCACTGCGTGTTTTGAAATATACAAATAGTGGGAAACGAAATCTTTGTTCTGGATGCAGTTATAATTTGGAAAGCGAGGAAATAAATTATAACAAGGGGAAAAAACAG___ACACAGAGGGATTGAAATGCATAACAATAGAGATGAAACACGAAGAGTGATAAATGAAGATTGAGTGTGCACACCTTCTGGAGGAGCCCTGATTGAGTATTTTAA___AATACTACTAAAGTCATGCCGTGTGACTTCTGAAGCTAGCTCCTAAGAAGTCCTTGCAGCTTCTGCCTGCGACTCTTAGAACACTTGCTTTGAAGGATGCCAGATGCTGTCTTAAAAGTCTGAGCACTCTGAAACCATCATGCTGTGAGGAAGCCCAAGCTAACCACATGGGCAAAAAAGATGCCCTCTGACTGCCACCATTTGAGACACTCTAATTAAGAACTGCCTCATTGAGCCCATGAGGCCCTGTGAATGATAATAATAAATTGTTTTTAACCACTATGTTTTTGGATTTGTTATAAGTTTATAGATAACAAGAAAAAGTTATATTAGCATGGTAATAAAATTATGGATATGT)$ . 03BR013 ENSG00000153310.19 ENSG00000164808.17 -/- +/- chr8:129903312 chr8:47697278 5'UTR/splice-site intron deletion/5'-5' 2 3 0 375 11 high . . . . . ENSG00000153310.19 ENSG00000164808.17 ENST00000519540.5 . upstream downstream mismappers(2) ^(CGGCGCCCTCACTTCCTGGCATTCCCTCCTCCCCCTCCCCGTCGTTACCCTGTACATCCGGGTCACTTGCCCTCCCCGCTCGGAGCTGCCGCCTGGCTTGTCGCGGCTCTGCCACAGGGGCAGGTGTTGAGGGGCTCCCGGTCCGGCTGCCGCCGCTCCCCCGCTCCGGACCCGGGGCTCCCCCTAGCGCCGCTGAGGAGCCGCCTCTGCGGCTCCAGGAGGGCGCAGGAGCGGGACTGAGAGCGCCTGGAGGCTCGAGCGGAGG___GTAATTCATTTGCACACCTGTTAGCAAGAAACAGAAGTTGAAGGACTGGAACAAGT)GAACTAGGAAAGAGGGAACGCCAATCCAAGG___ATAGAAGGACAAGGACAGAATCACCAGCACTGGCTGAAG|GGTCTCTCGCTCTGTCATCCAGGCTGGAGTGGAGCAATCATGGCTCACTGAGGCCAACCCTACGGCTGTTTTCAAGTCTTCCACACTCTTTAAAGGAAGGCCACCCCGACATGTCACGAGTCAATGAAAT___ATATGTCTACATTCGTGGAGAAAGATGTGAAAGATTACTTACC . 03BR013 ENSG00000183020.14 ENSG00000132740.9 +/+ +/+ chr11:959505 chr11:68911440 CDS/splice-site CDS/splice-site deletion 2 1 0 66 43 high in-frame . Adaptin_N_terminal_region(100%)|AAA_domain(100%),AN1-like_Zinc_finger(100%),R3H_domain(100%) . . ENSG00000183020.14 ENSG00000132740.9 ENST00000332231.9 ENST00000255078.8 downstream upstream . ^(GCTCGCGTGCGTGCGCGTGCGTGCTGGTGCGGGCGCCGTACGTGCGCGCGCGCGGCGGCCCAGAAAGCGGCGCTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCC)CGCTCCCCGCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTGGCGGTCTTCATCTCGGATATCCGCAACT___GTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAATTTAAAG|ACCCGCTGACATTCTTCAACACCTGCCTGGACACCTCCCAGAAAGAAGCGGTTTcATTTGCGCTGTCTCAGAAAGAACTTGCCATCATCCATGGACCTCCTGGCACTGGGAAAACCACGACTGTGGTTGAGATCATTCTTCA(AGCTGTGAAACAAGGCTTAAAG___GTTCTGTGCTGCGCCCCCTCCAACATCGCCGTGGACAATCTGGTGGAGCGCCTGGCTCTGTGTAAGCAGCGGATTCTGCGCCTGGGACACCCTGCCCGCCTCCTGGAGTCCATTCAGCAGCACTCCCTGGATGCGGTTTTAGCGCGGAGCGACAGTGCCCAGATTGTTGCAGATATCAGGAAGGACATCGACCAGGTCTTT___GTGAAAAACAAAAAGACCCAGGATAAGAGAGAGAAAAGTAATTTTCGAAATGAAATTAAGCTGTTAAGAAAAGAACTGAAGGAGAGGGAAGAAGCAGCTATGCTCGAGAGCCTCACTTCGGCAAACGTGGTCCTTGCAACAAACACAG___GTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAA___GGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAG___GGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTG___GCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAG___GTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAG___GTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAG___GACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAG___ATCCATGGCTGCGGTGAGAGGGCTCGCGCCCATGCCCGGCAGAGAATCAGCCGGGAAGGGGTCCTCTATGCCGGCAGCGGGACCAAGAACGGATCCCTGGACCCAGCCAAGAGGGCCCAGCTGCAGAGGAGGCTGGATAAGAAGCTGAGTGAGCTCAGCAACCAGAGGACCAGCCGGAGGAAGGAGAGGGGGACGTGACCGGCCGCATCCTTGCACGCCCCGCGGAGCTCTCTCCATGGTAGCCCAGGGCGCTGGCAGACCATGCTCCGCCTCCACCAGGGCCACAGAGGAGCGGAGGGGCCTATGGGGGAGGAGCGGAGGGCCCTGTTGGGGAAGGTTGGGTTTTTGGACCCCAGGGATAAGCTTTTCCGATGTCACAATGTGGAGGAAAGCACCTGGGGGACAACAGTGCTCGTGCAGGTGGGGCTTGGGAAATGCACGTCCCTTCCCCTTACTCCCCGCCAAAACCCACATCCCAGCCTCTGGATCCTGGGGAAGGTTCCAGTCCCTGGAGAATACCCAGGGCCTCAAACTTGAAGTCACTCCTCCAATGTCTGGGACTTGCCAGCTCAGCCCGTTAGGATGAGGGTGCTGAGAGGAAACAGGAAACAAGACTGCGAATGGCGCTCAGGCAGGGAGCAGGGAGTGGCGTTTGGCTTGCACGTTCCCATGTGGCCAGATGCTGGGGCCACTTTCCTTCTGTCTGCTGGTGACTGCAGTGTTCCCCCTCCTCCTCACCACGGGGCTCCTGTGAGTCTGGGGGGCACCTCTTTCTGGCCTGTGCACCTCTCTCTGGCTTATAAAGGTGCCTGGCCTGTGCCAGCCCCTCCTTGTTGCGCCTCACCGTGGGGACCAGGTGAGCCGGCTCTCCCACGTGGTTGTCCCGGGAAAGCTGCCCCACAGCCTCAGCATCTTCAGCACTTACCGATCCAGAGCCTCCCGGCCTTCTCCGGTGTCCTGTACCAACTCTTCTATTTAAGAGAACCTCAGATGATGTACCTGAGCCTCAGGGTTTTGTTTCAGAGGGATATAAATTATTTAAAAATTAAATGAAAACGTTGCACACTG)$ MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFK|dPLTFFNTCLDTSQKEAVsFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLCCAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDIDQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGDHKQLPPTTVSHKAALAGLSLSLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAATEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSPYNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVAVTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSSHAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGVESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFITVSKRAPRPRAALGPPAGTGGPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQRVRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFAKCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGSLDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT* 03BR013 ENSG00000152582.14 ENSG00000109381.20 +/+ -/+ chr5:35628562 chr4:139068393 CDS/splice-site intron translocation/5'-5' 1 2 0 21 3 high out-of-frame . CH-like_domain_in_sperm_protein(100%)| . . ENSG00000152582.14 ENSG00000109381.20 ENST00000356031.8 . downstream upstream . ^(CTTTCGCCTAGTTCCAGCCTGGATACGCTTCCATAGCAAAGGGTTGCCCTTGGCTACAGGAGGACGCGGGCTGGCAGGCTTGGTTCCTGGCGAGTTTCTAAGCCCCCGCCTGCGGTCTGAGGCACCGGCTGAACCATGTCGGAGATCCTGTGCCAGTGGCTCAACAAGGAGTTGAAGGTGTCC)CGGACCGTGA___GTCCCAAGTCATTTGCAAAGGCATTTTCCAGTGGCTATCTACTTGGAGAAGTTCTACACAAGTTTGAACTTCAGGATGATTTTTCAGAATTTTTGGACAGCAG|GATGGTGAGAAACAGCTTTAGCAACTTATTGCAGAAGATCTGATAATTTGCAAAGCCCTTTGAACTCAAATGAGGAAAAGTAAAAAATATCAAACACTCTCTACTGCTCTGGATCAGTTAATTCACCAGAATTCAAGCATAAGTGTTTCAATT MSEILCQWLNKELKVSRTVSPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSr|mvrnsfsnllqki* 03BR013 ENSG00000279470.1(25729),ENSG00000248789.5(17857) ENSG00000251601.1 ./+ -/- chr5:51990174 chr5:50933810 intergenic exon/splice-site inversion 1 2 0 4 33 high . . . . . . ENSG00000251601.1 . ENST00000514113.1 downstream downstream duplicates(2) GTAGAACTTTCTGTGAAGATGAAAGTGTTATATAACTCTGCTGTCTAATGCTGGAACCAATACACCCATATGTGCCTACTGAGCACTTGAAATGGATGAATGCTACTGAGGGATGGACACAGGGTACCTAGAATACCCTCAGTCTTCACTAG|AATATCCAGAACTATTCCTAAGCCACATCGTGTATTATTATCAAATGGCCTGTGAAGCAGATTCTCTTGCTGGGACAGTTTTTAAG(ACCTCTCTATACTGAATTGGGACACTGCCTGGAAGTTGTCCAAACTCTGCCTTTTGAAAGAATATTGATGACTAAGAAAACTTGCCCTGAATAAACTAATGTTAGGACACAG___GAAAGCACCCTCACTTCAAGTCATGTTCATTCCACAATCTCATATTTCAGATGTCATGGTTGCAGGATTGGTCGTGTTGTGTTGGAGCTGAGAAGAGGCAGTGCCCATCAATCAGCAGTTCCTGC)$ . 03BR013 ENSG00000164808.17 ENSG00000285992.1 +/+ +/+ chr8:47729465 chr8:47129734 CDS/splice-site intron duplication 1 2 0 218 4 high out-of-frame . Domain_of_unknown_function_(DUF4502)(100%),Domain_of_unknown_function_(DUF4503)(100%)| . . ENSG00000164808.17 ENSG00000285992.1 ENST00000297423.9 ENST00000648949.1 downstream upstream . ^(GCTCAGGCGGCGCTCCCGGAGATGCCCCGCGGCAGCCGCGCTCGGGGCTCTAAG___AGAAAAAGGAGTTGGAATACAGAATGCCCATCCTTTCCAGGAGAAAGACCACTGCAGGTCAGAAGAGCAGGTCTCAGGACAGCAGGGGCAGCTGCCTCTCTCTCTGAAGCATGGCTCAGGTGTGGAGAAGGGTTTCAGAACACTTCTGGGAATCCG___TCATTAACAGCTGAAGAGAAGACGATTACAGAAAAGCACCTTGAATTATGCCCTAGACCCAAGCAAG___AAACCACCACATCTAAAAGCACCAGTGGGCTTACAGACATAACATGGAGCTCCAGTGGAAGTGATTTGTCGGATGAAGATAAGACACTTTCTCAGTTACAGAGAG___ATGAATTACAGTTTATCGACTGGGAGATTGACAGTGACAGGGCAGAGGCTAGTGACTGTGATGAATTTGAAGATGACGAGGGTGCTGTGGAAATCTCAGACTGTGCTTCTTGTGCAAGTAATCAGTCTTTGACAAGTGATGAGAAGCTGTCGGAGCTTCCCAAG___CCAAGTTCTATAGAAATTTTAGAGTATTCATCAGATAGTGAAAAAGAAGATGATTTGGAAAATGTCCTACTCATTGATTCAGAATCCCCTCACAAATACCACGTGCAGTTTGCATCGGATGCAAGACAGATTATGGAGAGACTGATAGATCCAAGGACAAAATCAACAGAGACCATTTTGCATACACCTCAGAAACCCACAGCTAAGTTTCCCAGGACTCCAGAAAATTCAGCAAAGAAGAAGCTTTTAAG___AGGTGGACTAGCAGAAAGACTAAATGGACTGCAGAATCGAGAGAGATCTGCTATTTCTTTGTGGAGACATCAATGTATTTCTTACCAAAAGACACTTTCAG___GTAGAAAATCTGGTGTATTAACTGTGAAAATTTTAGAGCTGCATGAGGAATGTGCCATGCAAGTTGCCATGTGTGAGCAGTTATTGGGGTCACCAGCCACCAGCTCCTCCCAAAGTGTGGCTCCCAGGCCTGGAGCTGGCCTGAAAGTTCTCTTCACCAAGGAGACTGCAGGCTACCTCAGGGGCCGTCCCCAGGACACTGTCCGGATCTTCCCTCCCTG___GCAAAAACTGATTATTCCAAGTGGAAGTTGCCCTGTTATTCTGAATACTTACTTTTGTGAGAAAGTTGTTGCCAAAGAAGATTCAGAAAAAACTTGTGAAGTGTACTGTCCGGACATACCCCTTCCAAGAAGAAGCATCTCTTTGGCCCAGATGTTTGTAATTAAGGGTCTAACAAATAATTCACCTGAAATCCAG___GTTGTGTGTAGTGGTGTAGCCACTACAGGGACAGCCTGGACCCATGGGCACAAAGAAGCAAAACAGCGCATCCCAACCAGCACTCCCCTGAGGGATTCTCTCCTGGATGTGGTGGAAAGCCAGGGAGCTGCCTCGTGGCCAGGAGCTGGAGTCCGAGTGGTGGTGCAAAGAGTGTATTCTCTTCCCAGCAGAGACAGCACCAGGGGTCAGCAGGGGGCCAGCTCAGGACACACAGACCCAGCTGGAACTCG___AGCCTGCCTTCTGGTACAAGATGCCTGTGGAATGTTCGGTGAAGTGCACTTGGAGTTCACCATGTCGAAGGCAAGACAGTTGGAAGGGAAGTCTTGCAGCCTGGTGGGAATGAAGGTTCTACAGAAAGTCACCAGAGGAAG___GACAGCGGGGATTTTCAGTTTGATTGACACCCTGTGGCCCCCAGCGATACCTCTGAAAACACCTGGCCGCGACCAGCCCTGTGAAGAG___ATAAAAACTCATCTGCCTCCTCCAGCCTTGTGTTACATCCTCACAGCTCATCCAAATCTGGGACAAATTGATATAATTGACGAAGACCCCATTTATAAGCTTTACCAGCCTCCAGTTACCCGCTGCTTAAGAGACATTCTCCAG___ATGAATGATCTTGGTACCCGTTGCAGTTTCTATGCCACGGTGATTTACCAAAAACCACAG___CTGAAGAGTCTGCTGCTTCTGGAGCAAAGGGAGATCTGGCTGCTAGTGACCGATGTCACTCTGCAAACGAAGGAGGAGAGAGACCCCAGGCTCCCCAAAACCCTGCTGGTCTATGTGGCCCCCTTGTGTGTGCTGGGCTCTGAAGTCCTGGAGGCACTCGCTGGGGCTGCCCCTCACAGCCTCTTCTTCAAGGACGCTCTCCGTGACCAGG___GTCGGATTGTTTGTGCTGAACGAACTGTCCTCTTGCTTCAGAAGCCCCTTTTGAGTGTGGTCTCTGGTGCAAGTTCCTGTGAGCTGCCTGGCCCGGTGATGCTCGACAGCCTGGACTCTGCAACACCTGTCAACTCCATCTGCAGTGTTCAAG___GCACTGTGGTTGGCGTGGACGAGAGCACTGCTTTCTCATGGCCTGTGTGTGACATGTGTGGCAACGGGAGATTGGAACAGAGGCCGGAAGACAG___AGGCGCCTTTTCCTGTGGGGACTGCTCCCGGGTG)GTCACATCTCCTGTTCTCAAGAGGCACCTGCAGGTCTTCCTGGACTGCCGCTCAAGACCGCAGTGCAGAGTGAAGGTCAAG___CTGTTGCAGCGCAGCATTTCCTCCCTGCTGAGGTTTGCCGCCGGTGAAGATGGG|GACCACCCAGAGCAGGTATCCACAACTCCCAGGCCACAGACTGGTACCAGTCCATGGCCTTTTTGGAACCACGCCACACAGGAGGAGaTG...___ATGGGACCATTTAATTGCAGG MPRGSRARGSKRKRSWNTECPSFPGERPLQVRRAGLRTAGAAASLSEAWLRCGEGFQNTSGNPSLTAEEKTITEKHLELCPRPKQETTTSKSTSGLTDITWSSSGSDLSDEDKTLSQLQRDELQFIDWEIDSDRAEASDCDEFEDDEGAVEISDCASCASNQSLTSDEKLSELPKPSSIEILEYSSDSEKEDDLENVLLIDSESPHKYHVQFASDARQIMERLIDPRTKSTETILHTPQKPTAKFPRTPENSAKKKLLRGGLAERLNGLQNRERSAISLWRHQCISYQKTLSGRKSGVLTVKILELHEECAMQVAMCEQLLGSPATSSSQSVAPRPGAGLKVLFTKETAGYLRGRPQDTVRIFPPWQKLIIPSGSCPVILNTYFCEKVVAKEDSEKTCEVYCPDIPLPRRSISLAQMFVIKGLTNNSPEIQVVCSGVATTGTAWTHGHKEAKQRIPTSTPLRDSLLDVVESQGAASWPGAGVRVVVQRVYSLPSRDSTRGQQGASSGHTDPAGTRACLLVQDACGMFGEVHLEFTMSKARQLEGKSCSLVGMKVLQKVTRGRTAGIFSLIDTLWPPAIPLKTPGRDQPCEEIKTHLPPPALCYILTAHPNLGQIDIIDEDPIYKLYQPPVTRCLRDILQMNDLGTRCSFYATVIYQKPQLKSLLLLEQREIWLLVTDVTLQTKEERDPRLPKTLLVYVAPLCVLGSEVLEALAGAAPHSLFFKDALRDQGRIVCAERTVLLLQKPLLSVVSGASSCELPGPVMLDSLDSATPVNSICSVQGTVVGVDESTAFSWPVCDMCGNGRLEQRPEDRGAFSCGDCSRVVTSPVLKRHLQVFLDCRSRPQCRVKVKLLQRSISSLLRFAAGEDG|dhpeqvsttprpqtgtspwpfwnhatqee 03BR013 ENSG00000160973.8(2278),ENSG00000160972.9(11903) ENSG00000160972.9 ./+ +/+ chr8:144478127 chr8:144490034 intergenic 5'UTR deletion/read-through 7 7 0 17 42 medium . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000160972.9 . ENST00000292539.8 downstream upstream mismatches(2) GGTGCGGGGCCCGCCCCCGCAGCGCCTCAGGGAGCGCGGGGCCCACTGACCCGCGGAAGCCAGCGGACCCACTTGTGCGGCGGTCGGCGCGGGGCGCaAG|GTACTGGCACACGGATGAGGAGTCGTAGAAGAGGGGCCTGCAGATTGTGCTCTCAGCAAGCCTGTCGTCTAGTGGAAGACACTGGCCGGGACACAGAGCCCACGTGTGGACACCGCTGTGGGTTGGTGGCAGGGGTCGAGCAGGTGCCATCAGGCACATGAACGGTGGAGTCTTCAAAG___GTGTGAGCAGCTGCTGGAAGAGGAGGTGCTCCTGAAGACACTGCGGCCGGCCCGCCTGTGCCCTTGGTGCCCTGGCTGCCTAGAGAGCCTCAC(CCCTGGGCCCTGGGGCCAGGACTCCAGGACTCTGACTACCTGCCCTCCCCCAGCCTCAGCGGCTGCACCTCCTCGTTAGTACTGATGCACTGACCTCGGCACACAGCTGGGAGGGGTTGGGGGCTGGGTCATGGCTGCTCCCAGGCCCCACCCAGGCTCCTGAGCCTAGAAGGTGAAAAGAGGACTCTCAGGGGCTCACAGGGGCTCTCACTGCTGGTTGGCCCTGCCCTCCCTTCCCCCTCAGCAGGGTGCCCGGAAGCTGGAACCTTGTTATCTGGGTAATTAGTTTCAGACCCTGCACTGAGGCCGGCCAGGTCTCGGGGCTGCCTCCCATAGGTTGTGCACCCTGACCCCGAGAGGGAGGCGAGGCGCTGCTTGTCGACAGCTAGAGGCTGGCCTGGGGAGCAGGTTTGGGGTGCCCTCCCACACTGCCCTCCCTGCCCCGGCCCATGCCCCCCAGGGCTGCCTGGGCCTGGTTATTGTGTGGGGCCTCCTGACCCAGCCAAGGGCACGAAGCTCTGGGAAGGGGATGCCCCCGAGGGTGCCAGTCCAGCTAGCTGCCCCACCCCTCAGGCCCAGCCTGGCCCCCAAGCTCCCCACTCTGGTGCCCCGAGCAGCCCTGTGGGCAAGCAGCCGCCGCCATGGCCGAGCACCTGGAGCTGCTGGCAGAGATGCCCATGGTGGGCAGGATGAGCACACAGGAGCGGCTGAAGCATGCCCAGAAGCGGCGCGCCCAGCAGGTGAAGATGTGGGCCCAGGCTGAGAAGGAGGCCCAGGGCAAGAAGGGTCCTGGGGAGCGTCCCCGGAAGGAGGCAGCCAGCCAAGGGCTCCTGAAGCAGGTCCTCTTCCCTCCCAGTGTTGTCCTTCTGGAGGCCGCTGCCCGAAATGACCTGGAAGAAG___TCCGCCAGTTCCTTGGGAGTGGGGTCAGCCCTGACTTGGCCAACGAGGACGGCCTGACGGCCCTGCACCAG___TGCTGCATTGATGATTTCCGAGAGATGGTGCAGCAGCTCCTGGAGGCTGGGGCCAACATCAATGCCTGTGACAGTGAGTGCTGGACGCCTCTGCATGCTGCGGCCACCTGCGGCCACCTGCACCTGGTGGAGCTGCTCATCGCCAG___TGGCGCCAATCTCCTGGCGGTCAACACCGACGGGAACATGCCCTATGACCTGTGTGATGATGAGCAGACGCTGGACTGCCTGGAGACTGCCATGGCCGACCGTG___GCATCACCCAGGACAGCATCGAGGCCGCCCGGGCCGTGCCAGAACTGCGCATGCTGGACGACATCCGGAGCCGGCTGCAGGCCGGGGCAGACCTCCATGCCCCCCTGGACCACGGGGCCACGCTG___CTGCACGTCGCAGCCGCCAACGGGTTCAGCGAGGCGGCTGCCCTGCTGCTGGAACACCGAGCCAGCCTGAGCGCTAAGGACCAAGACGGCTGGGAGCCGCTGCACGCCGCGGCCTACTGGGGCCAG___GTGCCCCTGGTGGAGCTGCTCGTGGCGCACGGGGCCGACCTGAACGCAAAGTCCCTGATGGACGAGACGCCCCTTG___ATGTGTGCGGGGACGAGGAGGTGCGGGCCAAGCTGCTGGAGCTGAAGCACAAGCACGACGCCCTCCTGCGCGCCCAGAGCCGCCAGCGCTCCTTGCTGCGCCGCCGCACCTCCAGCGCCGGCAGCCGCGG___GAAGGTGGTGAGGCGGGTGAGCCTAACCCAGCGCACCGACCTGTACCGCAAGCAGCACGCCCAGGAGGCCATCGTGTGGCAACAGCCGCCGCCCACCAGCCCGGAGCCGCCCGAGGACAACGATGACCGCCAGACAGGCGCAGAGCTCAGGCCGCCGCCCCCGGAG___GAGGACAACCCCGAAGTGGTCAGGCCGCACAATGGCCGAGTAGGGGGCTCCCCAGTGCGGCATCTATACTCCAAGCGACTAGACCGGAGTGTCTCCTACCAGCTGAGCCCCCTGGACAGCACCACCCCCCACACCCTGGTCCACGACAAGGCCCACCACACCCTGGCTGACCTGAAGCGCCAGCGAGCTGCTGCCAAGCTGCAGCGACCCCCACCTGAGGGGCCCGAGAGCCCTGAGACAGCTGAGCCTGGCCTGCCTGGTGACACGGTGACCCCCCAGCCTGACTGTGGCTTCAGGGCAGGCGGGGACCCACCCCTGCTCAAGCTCACAGCCCCGGCGGTGGAGGCTCCCGTGGAGAGGAGGCCGTGCTGCCTGCTCATGTGAGGCTGTTGCTCAGCATGCAGGGGCCCTGTCGCGGGCACAGCCCAAGGCTGCCTCCCCACGGTGCGTGCCCTGGTGCTGCGGGTGCAGCACGGAAACCCCGGCTTCTACTGTACAGGACACTGGCCCCTCTCAGGTCAGAAGACATGCCTGGAGGGATGTCTGGCTGCAAAGACTATTTTTATCCTGCAACTCTTGATAAAGGGCTGTTTTGCCATGGA)$ . 03BR013 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 9 5 0 193 38 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream low_entropy(1) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCATCGACAGGGAAAACTTCGTGGACATTGTTGATGCCAAG___TTGAAGATTCCTGTCTCTGGATCCAAATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGG)CCCCTTTCAGAG___GTGGCACCTTGACGAGGTCTTTTTAGAGCTCAAGGATGGTCAGCAGATTCCTGTGTTCAAGCTCAGTGGGGAAAACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCAcAGTGGACCTTTATTGTCTCCTGAGC...GTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCTCTTCCTCCAGAGTTGGAGCCTATGACACTGATGACACTGGCATGGAAAGCCAAAGCCCTAC . 03BR013 ENSG00000134352.20 ENSG00000279470.1(11104),ENSG00000248789.5(32482) -/- ./+ chr5:55994784 chr5:51975549 5'UTR/splice-site intergenic inversion 0 13 0 49 55 medium . . . . . ENSG00000134352.20 . ENST00000381298.7 . upstream upstream . ^(GGATCTGACAGTGTTCCGGAGCCGGGGCGAGCAGCCAAAAGGCCCGCGGAGTCGCGCTGGGCCGCCCCGGCGCAGCTGAACCGGGGGCCG)CGCCTGCCAGGCCGACGGGTCTGGCCCAGCCTGGCGCCAAGGGGTTCGTGCGCTGTGGAGACGCGGAGGGTCGAGGCGGCGCGGCCTGAG|TGACAGAGTCTTGCTTTGTTGTCCAGGCTGCTCTCCACCAACTGGCCTCAAGCAATCTTCTCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGTGACTATGCTGGCACAAACTTACGGCAATTTGAGACTAAGGCTTAGAGTCCATTTAATAAAG___TGATCTAGACTCACGTAGTTCATCAGAACATAGGAGA . 03BR013 ENSG00000166387.13 ENSG00000172188.5(8261),ENSG00000181927.3(19207) +/+ ./- chr11:7649654 chr11:55615906 CDS/splice-site intergenic inversion 5 0 0 35 0 medium out-of-frame . SAM_domain_(Sterile_alpha_motif)(100%)| . . ENSG00000166387.13 . ENST00000299492.9 . downstream downstream duplicates(1),mismatches(1) ^(AGTTGGTCGGTGGGCCAGTGGCCCGTCGCTCGCTTCTGGGCTCTCATGTTTGAAGGTGGGAGGGACACGGGAGCGGCCCGCACACCTGAGCCGCCCGGAGAGGAGCCTCGGCCCCGTACCCAG___TAAGAAGAGGAGGAGGCCAGGCAGGCAAAAGGAGTCATGGCTTCTGATGCTAGTCATGCGCTGGAAGCTGCCCTGGAGCAAATGGACGGGATCATTGCAG___GCACTAAAACAGGTGCAGATCTTAGTGATGGTACTTGTGAGCCTGGACTGGCTTCCCCGGCCTCCTACATGAACCCCTTCCCGGTGCTCCATCTCATCGAGGACTTGAGGCTGGCCTTGGAGATGCTGGAGCTTCCTCAGGAGAGAGCAGCCCTCCTGAGCCAGATCCCTGGCCCAACAGCTGCCTACATAAAGGAATGGTTTGAAGAGAGCTTG___TCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAG___GTGAGTGTCCTCACAGACCAAGTAGAAGCCCAGGGAGAAAAGATTCGAGACCTGGAAGTGTGTCTGGAAGGACACCAGGTGAAACTCAATGCTGCTGAAGAGATGCTTCAACAG___GAGCTGCTAAGCCGCACATCTCTTGAGACCCAGAAGCTCGATCTGATGACTGAAGTGTCTGAGCTGAAGCTCAAGCTGGTTGGCATGGAGAAGGAGCAGAGAGAGCAGGAGGAGAAGCAGAGAAAAGCAGAG___GAGTTACTGCAAGAGCTCAGGCACCTCAAAATCAAAGTGGAAGAGTTGGAAAATGAAAGGAATCAGTATGAATGGAAGCTAAAGGCCACTAAG___GCTGAAGTCGCCCAGCTGCAAGAACAGGTGGCCCTGAAAGATGCAGAAATTGAGCGTCTGCACAGCCAGCTCTCCCGGACAGCAGCTCTCCACAGTGAGAGTCACACAGAGAGAG___ACCAAGAAATTCAACGTCTGAAAATGGGGATGGAAACTTTGCTGCTTGCCAATGAAGATAAG___GACCGTCGGATAGAGGAGCTTACGGGGCTGTTAAACCAGTACCGGAAGGTAAAGGAGATTGTGATGGTCACTCAAG___GGCCTTCGGAGAGAACTCTCTCAATCAATGAAGAAGAACCGGAGGGAGGTTTCAGCAAGTGGAACGCTACAAATAAGGACCCTGAAGAATTATTTAAACAAGAG___ATGCCTCCAAGATGTAGCTCTCCTACAGTGGGGCCACCTCCATTGCCACAGAAATCACTGGAAACCAG___GGCTCAGAAAAAGCTCTCTTGTAGTCTAGAAGACTTGAGAAGTGAATCTGTGGATAAG___TGTATGGATGGGAACCAGCCCTTCCCGGTGTTAGAACCCAAG___GACAGCCCTTTCTTGGCGGAGCACAAATATCCCACTTTACCTGGGAAGCTTTCAGGAGCCACGCCCAATGGAGAGGCTGCCAAATCTCCTCCCACCATCTGCCAGCCTGACGCCACGGGGAGCAGCCTGCTGAGGCTGA___GAGACACAGAAAGTGGCTGGGACGACACTGCTGTGGTCAATGACCTCTCATCCACATCATCGGGCACTGAATCAGGTCCTCAGTCTCCTCTGACACCAGATGGTAAACGGAATCCCAAAGGCATTAAGAAGTTCTGGGGAAA___AATCCGAAGAACTCAGTCAGGAAATTTCTACACTGACACGCTGGGGATGGCAGAGTTTCGACGAGGTGGGCTCCGGGCAACCGCAGGGCCAAGACTCTCTAGGACCAGGGACTCCAAGGGACAGAAAAG___TGACGCCAATGCCCCCTTTGCCCAGTGGAGCACAGAGCGTGTGTGTGCATGGCTGGAGGACTTTGGCCTGGCTCAGTATGTGATCTTTGCCAGGCAGTGGGTATCTTCTGGCCACACCTTATTGACAGCCACCCCTCAGGACATGGAAAAG___GAGCTAGGAATTAAGCACCCACTCCACAGGAAGAAGCTTGTTTTAGCAGTGAAAGCCATCAACACCAAACAGGAGGAGAAGTCTGCACTGCTAGACCACATTTGGGTGACAA___GGTGGCTTGATGATATTGGCTTACCCCAGTACAAAGACCAGTTTCATGAATCTAGAGTTGACAGACGA)ATGCTGCAATACCTAACTGTG___AACGATTTACTCTTCTTAAAAGTCACCAGCCAACTACATCATCTCAGCATCAAATGTGCCATTCACGTGCTGCATGTCAACAAGTTCAACCCCCACTGCCTGCACCGGCGGCCAGCTGATGAG|ATCCAAGATAATCAGACTGGAGAATTGTGAGGCCTATTTTAAGAAATATGAAACTGACTCCAAC MASDASHALEAALEQMDGIIAGTKTGADLSDGTCEPGLASPASYMNPFPVLHLIEDLRLALEMLELPQERAALLSQIPGPTAAYIKEWFEESLSQVNHHSAASNETYQERLARLEGDKESLILQVSVLTDQVEAQGEKIRDLEVCLEGHQVKLNAAEEMLQQELLSRTSLETQKLDLMTEVSELKLKLVGMEKEQREQEEKQRKAEELLQELRHLKIKVEELENERNQYEWKLKATKAEVAQLQEQVALKDAEIERLHSQLSRTAALHSESHTERDQEIQRLKMGMETLLLANEDKDRRIEELTGLLNQYRKVKEIVMVTQGPSERTLSINEEEPEGGFSKWNATNKDPEELFKQEMPPRCSSPTVGPPPLPQKSLETRAQKKLSCSLEDLRSESVDKCMDGNQPFPVLEPKDSPFLAEHKYPTLPGKLSGATPNGEAAKSPPTICQPDATGSSLLRLRDTESGWDDTAVVNDLSSTSSGTESGPQSPLTPDGKRNPKGIKKFWGKIRRTQSGNFYTDTLGMAEFRRGGLRATAGPRLSRTRDSKGQKSDANAPFAQWSTERVCAWLEDFGLAQYVIFARQWVSSGHTLLTATPQDMEKELGIKHPLHRKKLVLAVKAINTKQEEKSALLDHIWVTRWLDDIGLPQYKDQFHESRVDRRMLQYLTVNDLLFLKVTSQLHHLSIKCAIHVLHVNKFNPHCLHRRPADE|iqdnqtgel* 03BR013 ENSG00000166016.6 ENSG00000236088.10 -/- -/+ chr11:34356701 chr17:14023294 CDS/splice-site intron translocation/5'-5' 0 2 0 11 15 medium out-of-frame . . . . ENSG00000166016.6 ENSG00000236088.10 ENST00000435224.3 . upstream upstream . ^(GCAGAAGTTTGCAGAGCGCTTTCTCGCCGGCTGGTCCCGGACTCGCGCTGCGCCCTGCGCCCTGCGCCGCCGCCTCCTCCTTCTGCCGCCGCCGCCCTGTTCTCCCGGGATTCCTTCTCTGTGGAGGACTGACTCTCTGCTTGTGGGAATTAGAGGTGGACAAGGGGGAGTGCCGGGGGGTAGCGACGGGGTTCTTTCCAGTGGCAGCTGCGAGTCGGGACGCCGGGAGCGTGGGGCTCCTGCTGGCCACGGATCTCGGCCACCTTCCCGCGGCCTCCGGGCAGGCAATGCGGCCGCCGAGCCCCGCGACGCAGAGAGGAAGGAGGGTGGCCCGGAGGGCCTAGAGCTTGTTTCTGCCCACTTGGGAAAGAGGGCATGGAGTTGTGAGTGCCCCTCGCTCGGCGACGCCGCCCTCGGCAGGCTCCCCATGGCCGGGACGTACAGCTCGACTCTGAAGACGCTGGAGGACTTGACCTTGGACTCCGGGTATGGGGCCGGGGACTCGTGCCGCTCGCTCAGCCTCTCGTCCTCCAAGTCCAACTCGCAGGCGCTCAACTCTTCGGCGCAGCAGCACCGCGGGGCGGCCTGGTGGTGCTACTCCGGCTCCATGAACAGCCGCCACAACAGCTGGGACACGGTGAACACGGTGCTGCCCGAGGACCCCGAAGTGGCCGACCTCTTCTCGCGCTGTCCGCGGCTCCCCGAGCTGGAGGAGTTCCCCTGGACCGAAGGAGACGTGGCCCGGGTGCTCCGCAAAGGCGCTGGCGGCCGGCGGCTGCCCCAGTTCTCCGCCGAGGCGGTGAGGCGCCTGGCCGGGCTGCTCCGCAGGGCACTGATCCGCGTGGCCCGCGAGGCGCAGCGCCTGAGCGTGCTGCACGCCAAGTGCACCCGCTTTGAGGTGCAGAGCGCCGTGCGCCTGGTGCACAGCTGGGCGCTGGCCGAGAGCTGCGCGCTGGCAGCCGTCAAGGCGCTGTCCCTGTACAGCATGAGCGCCGGCGACGGGCTGCGCCGGGGCAAGTCCGCGCGCTGCGGCCTCACCTTCTCAGTGGGTCGCTTTTTCCGCTGGATGGTGGACACCCGAATCTCCGTGCGCATCCACGAGTACGCAGCCATCTCCCTCACCGCCTGCATGGAGAACCTGGTGGAGGAGATCCGGGCCAGGGTGATGGCCAGCCACAGCCCTGATGGCGGAGGGGCCGGAGGCGGGGAGGTGTCTGCTGAGGCCCTGGAGATGGTCAT)CAACAACGACGCCGAGCTCTGGGGCGTCTTGCAGCCCTATGAGCATCTCATCTGCGGCAAGAACGCCAATG|GTAACTGTGAAGCAGCCTCAGGCAGTTTCTTCAGGAGGTTTCCAGAAGAAGGCATTCTTATCAAGGAGATGACAGCTCCATGCCTGTTACTGCCCCTGAAGACCTTCCGGTGGGACAAGATGTGGAGGTAGAGGACAGTGAAATTGATGATCCTGACCCTGCTTAGCCTTAGGCGAAAGTGTCTGGTTGTGTCTTGTTTTTTAACAACAAAC MAGTYSSTLKTLEDLTLDSGYGAGDSCRSLSLSSSKSNSQALNSSAQQHRGAAWWCYSGSMNSRHNSWDTVNTVLPEDPEVADLFSRCPRLPELEEFPWTEGDVARVLRKGAGGRRLPQFSAEAVRRLAGLLRRALIRVAREAQRLSVLHAKCTRFEVQSAVRLVHSWALAESCALAAVKALSLYSMSAGDGLRRGKSARCGLTFSVGRFFRWMVDTRISVRIHEYAAISLTACMENLVEEIRARVMASHSPDGGGAGGGEVSAEALEMVINNDAELWGVLQPYEHLICGKNAN|gnceaasgsffrrfpeegilikemtapclllplktfrwdkmwr* 05BR001 ENSG00000140105.18 ENSG00000258592.1(52121),ENSG00000070367.16(35726) -/- ./- chr14:100360554 chr14:57164781 CDS/splice-site intergenic deletion 17 9 0 781 86 high out-of-frame . . . . ENSG00000140105.18 . ENST00000355338.6 . upstream downstream . ^(TGTCAAGCCCTATGCTGGGTCTGGTGTGGGTGGAAATCAAACACAAAACACAGATCCCCCCGGAGGCCCCAGAGCGATGAAAGCAACAAACAAGATACGACCAGAGATGGGTTTTGAAGGATGAATAGGAGTTAGCTGAGCTGTCAATAGTAAGAAGTAAGGTTGGTCCAAGGCACAGCGCTTTCTGAAGGAACAGGAAGTGAAAGGAAGGCGAGCGGCTATGAGAGACCGCGTTAAGCGGCACGGGGCGCTTTAGGCGCTGCCCAGTCCCGGCCCCTCCAGCCCGGGGCCCGCCGCTCACCACACGCACCGGAAGCGCTCGGTTCTCCCGGAGGCAGACCGGCCAGCACACTACCATCCAGTCACGTTCCGACGCGACGCCGCGGCCGCCAGCCAATCAGTGGCGGCCTCTGCCCCGCCCCCGCGCGAACAGCCAATGACGGCGCCGTCGGGCCGGAAGTTGTTCCGTCCGGACGGCGTTTCCACGGACGCCCAGGAGACAGCCGGTTGCTGAGCCGGGAGCGCTGACTGGCCCGGCTGGGCAGG___TCTTGACTCGTCTGCTGAACAAATCCTCTGACCTCAGGCCGGCTGTGAACGTAGTTCCTGAGAGATAGCAAACATGCCCAACAGTGAGCCCGCATCTCTGCTGGAGCTGTTCAACAGCATCGCCACACAAGGGGAGCTCGTAAGGTCCCTCAAAGCGGGAAATGCGTCAAAG___GATGAAATTGATTCTGCAGTAAAGATGTTGGTGTCATTAAAAATGAGCTACAAAGCTGCCGCGGGGGAGGATTACAAGGCTGACTGTCCTCCAGGGAACCCAGCACCTACCAGTAATCATGGCCC)AGATGCCACAGAAGCTGAAGAGGATTTTGTGGACCCATGGACAGTACAGACAAGCAGTGCAAAAGGCATAGACTACGATAAGCTCATTG___TTCGGTTTGGAAGTAGTAAAATTGACAAAGAGCTAATAAACCGAATAGAGAGAGCCACCGGCCAAAGACCACACCACTTCCTGCGCAGAGGCATCTTCTTCTCACACAG|GAAGAATAGAAACTTTTGAAGCTGTGGcGCTTTCCAGGAAGATTATCAGCAACATCGGAGAGCACCCATTCCAGGAATGGCCTGCAGAAGTCAGCCCCACTTTTCCCATCTGGAAACATCCCACCCATCACTGCTTCCCCACCCTCTCTTCATGCCCTCAGCTGCAGATAACATACTAGACATTCTGCCATGAAGACTCCGCTGGCCCATATGCGAGACTCTCCGTGTTCACAGCTTATCACATAATATCATTTCCTGCTCTTCACAATCTTCCTTTCAAATGCTTT MPNSEPASLLELFNSIATQGELVRSLKAGNASKDEIDSAVKMLVSLKMSYKAAAGEDYKADCPPGNPAPTSNHGPDATEAEEDFVDPWTVQTSSAKGIDYDKLIVRFGSSKIDKELINRIERATGQRPHHFLRRGIFFSHr|knrnf* 05BR001 ENSG00000173848.19 ENSG00000229765.2(710),ENSG00000221583.1(6964) +/+ ./+ chr10:5429229 chr6:10215072 CDS/splice-site intergenic translocation 5 19 0 42 35 high out-of-frame . . . . ENSG00000173848.19 . ENST00000355029.9 . downstream upstream duplicates(1),mismatches(5) ^(AAATCCCCGGATGACGGCGGTGGCGGCTGCAGTCCGCTGACAGGCGCTTTCTGCCTGGCAGAGGCTGGCGGGCATCGTGCCCGTCCCTGCCGGTCTCCCGGGCACCCGGCCACCGCCCCACCCCCTCCTCCGTGCCATGGAGCCCGAGCTGGCGGCTCAGAAGCAGCCTCGACCGCGGAGGCGAAGCCGCCGGGCCTCTGGGCTCAGCACGGAGGGAGCGACGGGGCCTTCGGCCGACACCTCCGGGTCGGAGCTGGACG)GGAG___ATGTTCCCTTCGGAGAGGCAGCTCCTTCACATTCTTAACACCTGGCCCCAACTGGGACTTCACTTTG___AAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAG|AACAGTAGTATTTTCCACCAGAAAAGAAGAAATAAACTTGAAGAAGAGAGAGAAAAAGGAGAAAAAGGCATTGTAAAAGAACCAAAAAAAAGGGGAGGGGACTAGTACAAAGCTGATCTTCTATACAGCGTTTCACTTTGCTGAACTGCATGAGAGATTCCCTAATAAACTTCTTCTCACACTTGAATATCTTGTTCCAAAAAGTAGGAGATGT MEPELAAQKQPRPRRRSRRASGLSTEGATGPSADTSGSELDGRCSLRRGSSFTFLTPGPNWDFTLKRKRREKDDDVVSLSSLDLK|nssifhqkrrnkleeerekgekgivkepkkrggd* 05BR001 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 9 0 115 55 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCA)TGAcCACCAATTAAaGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHdHQLkLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05BR001 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 5 0 18 16 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream . AGGAGCTCTGTGAGGAA___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGG(GGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05BR001 ENSG00000054793.14 ENSG00000054793.14 -/- -/+ chr20:51622074 chr20:51646767 CDS/splice-site intron inversion/5'-5' 5 6 0 40 12 high out-of-frame . Cation_transport_ATPase_(P-type)(100%),E1-E2_ATPase(100%),Phospholipid-translocating_ATPase_N-terminal(100%)| . . ENSG00000054793.14 ENSG00000054793.14 ENST00000338821.6 . upstream upstream . ^(AAGGCGGGCGGCGCCGCCGACATGACGGACAACATCCCGCTGCAGCCGGTGCGCCAGAAGAAGCGGATGGACAGCAGGCCCCGCGCCGG___GTGCTGCGAGTGGCTGAGATGCTGCGGTGGAGGGGAGGCCAGGCCCCGCACTGTCTGGCTGGGGCACCCCGAGAAGAGAGACCAGAGGTATCCTCGGAATGTCATCAACAATCAGAAGTACAATTTCTTCACCTTTCTTCCTGGG___GTGCTGTTCAACCAGTTCAAATACTTTTTCAACCTCTATTTCTTACTTCTTGCCTGCTCTCAGTTTGTTCCCGAAATGAGACTTGGTGCACTCTATACCTACTGGGTTCCCCTG___GGCTTCGTGCTGGCCGTCACTGTCATCCGTGAGGCGGTGGAGGAGATCCGATGCTACGTGCGGGACAAGGAAGTCAACTCCCAGGTCTACAGCCGGCTCACAGCACGAG___GCACAGTGAAGGTGAAGAGTTCTAACATCCAAGTTGGAGACCTTATCATCGTTGAAAAG___AACCAGCGGGTCCCTGCCGACATGATCTTCCTGAGGACATCAGAAAAAAACG___GGTCATGCTTCTTGCGGACGGATCAGCTGGATGGGGAGACGGACTGGAAGCTGCGGCTTCCCGTGGCCTGCACGCAGAGGCTCCCCACGGCCGCC___GACCTTCTTCAGATTCGATCGTATGTGTACGCAGAAGAGCCAAATATTGACATTCACAACTTCGTGGGAACTTTTACCCGA___GAAGACAGCGACCCCCCGATCAGCGAGAGCCTGAGCATAGAGAACACGCTGTGGGCTGGCACTGTGGTCGCATCAG___GTACTGTTGTGGGTGTTGTTCTTTACACTGGCAGAGAACTCCGGAGTGTCATGAATACCTCAAATCCCCGAAGTAAG___ATCGGCCTGTTCGACTTGGAAGTGAACTGCCTCACCAAGATCCTCTTTGGTGCCCTGGTGGTGGTCTCGCTGGTCATGGTTGCCCTTCAGCACTTTGCAGGCCGTTGGTACCTGCAGATCATCCGCTTCCTCCTCTTGTTTTCCAACATCATCCCCATTAG___TTTGCGTGTGAACCTGGACATGGGCAAGATCGTGTACAGCTGGGTGATTCGAAGGGACTCGAAAATCCCCGGGACCGTGGTTCGCTCCAGCACGATTCCTGAGCAGCTGGGCAGGATTTCGTACTTACTCACAGACAAGACAG___GCACTCTTACCCAGAACGAGATGATTTTCAAACGGCTCCATCTCGGAACAGTAGCCTACGGCCTCGACTCAATGGACGAAGTACAAAGCCACATTTTCAGCATTTACACCCAG___CAATCCCAGGACCCACCGGCTCAGAAGGGCCCAACGCTCACCACTAAGGTCCGGCGGACCATGAGCAGCCGCGTGCACGAAGCCGTGAAGGCCATCGCGCTCTGCCACAACGTGACTCCCGTGTATGAGTCCAACGGTGTGACTGATCAGGCTGAGGCCGAGAAGCAGTACGAAGACTCCTGCCGCGTATACCAGGCATCCAGCCCCGATGAG___GTGGCCCTGGTACAGTGGACGGAAAGTGTGGGCTTAACCCTGGTGGGCCGAGACCAGTCTTCCATGCAGCTGAGGACCCCTGGCGACCAGATCCTGAACTTCACCATCCTACAGATCTTCCCTTTCACCTATGAAAGCAAACGTATGGGCATCATCGTGCGG___GATGAATCAACTGGAGAAATTACGTTTTACATGAAGGGAGCAGATGTGGTCATGGCTGGCATTGTGCAGTACAATGACTGGTTGGAGGAAGAG___TGTGGCAACATGGCCCGAGAAGGGCTGCGGGTGCTCGTGGTGGCAAAGAAGTCTCTTGCAGAGGAGCAGTATCAGGACTTTGAA___GCCCGCTACGTCCAGGCCAAGCTGAGTGTGCACGACCGCTCCCTCAAAGTGGCCACGGTGATCGAGAGCCTGGAGATGGAGATGGAACTGCTGTGCCTGACGGGCGTGGAGGACCAGCTGCAGGCAGATGTGCGGCC)CACGCTGGAGACCCTGAGGAATGCTGGCATCAAG___GTTTGGATGCTGACAGGGGACAAGCTGGAGACAGCTACGTGCACAGCGAAGAATGCACATCTGGTGACCAGAAACCAAGACATCCACGTTTTTCGGCTG|CATGAAACAAACAAAACACAGCCTGCTAGGAATCAGCGGAAGAGACAGTGGCATAAAAGGTCACTTCTTGCCgGGCGCAGTGGCTCACGCCTGTAATCCCAACACCTTGGGAGGCTGAAGTGGaCaGATCACCTGAGGTATGGAGCCTCAAGACCAGCCTGGCCAACATAGTG MTDNIPLQPVRQKKRMDSRPRAGCCEWLRCCGGGEARPRTVWLGHPEKRDQRYPRNVINNQKYNFFTFLPGVLFNQFKYFFNLYFLLLACSQFVPEMRLGALYTYWVPLGFVLAVTVIREAVEEIRCYVRDKEVNSQVYSRLTARGTVKVKSSNIQVGDLIIVEKNQRVPADMIFLRTSEKNGSCFLRTDQLDGETDWKLRLPVACTQRLPTAADLLQIRSYVYAEEPNIDIHNFVGTFTREDSDPPISESLSIENTLWAGTVVASGTVVGVVLYTGRELRSVMNTSNPRSKIGLFDLEVNCLTKILFGALVVVSLVMVALQHFAGRWYLQIIRFLLLFSNIIPISLRVNLDMGKIVYSWVIRRDSKIPGTVVRSSTIPEQLGRISYLLTDKTGTLTQNEMIFKRLHLGTVAYGLDSMDEVQSHIFSIYTQQSQDPPAQKGPTLTTKVRRTMSSRVHEAVKAIALCHNVTPVYESNGVTDQAEAEKQYEDSCRVYQASSPDEVALVQWTESVGLTLVGRDQSSMQLRTPGDQILNFTILQIFPFTYESKRMGIIVRDESTGEITFYMKGADVVMAGIVQYNDWLEEECGNMAREGLRVLVVAKKSLAEEQYQDFEARYVQAKLSVHDRSLKVATVIESLEMEMELLCLTGVEDQLQADVRPTLETLRNAGIKVWMLTGDKLETATCTAKNAHLVTRNQDIHVFRL|hetnktqparnqrkrqwhkrsllagrsgsrl* 05BR001 ENSG00000162980.17 ENSG00000271952.2(16098),ENSG00000162975.5(10718) -/- ./+ chr2:151814169 chr2:10901216 CDS/splice-site intergenic inversion 7 1 0 127 16 high out-of-frame . ADP-ribosylation_factor_family(100%)| . . ENSG00000162980.17 . ENST00000295087.13 . upstream upstream mismatches(1) ^(GCAGACAACGCGGCGGCGATGTCCGCGAGCCAGGCGAGTGCCGCGGCGGCAGCGGCGGGGCCTTGCGCGCGGCAGGGCGGCCTGGGCTTCGGCCTCCCTCCGGTTCCCTGGAAGCGGGCCCGCGACCAGCGCGGGAGCAGCAGCAGAGGCGGAGGCTCCAGCGCGTCTCTCTCCTCCCCCTCAGCCTGAGCCGGGGGAAGCCAGGCGGCCCGGGTGTCTGGAGGGGGGGGGTCCGCTGCCCGAGAATGGGAATTCTCTTCACTAGAATATGGAGACTGTTCAATCACCAGG___AGCACAAAGTTATCATTGTTGGGCT)GGATAATGCAGGGAAAACTACCATTCTTTACCAATT___TTCTATGAATGAAGTTGTACATACATCTCCTACAATAGGAAGTAATGTAGAAGAGATAGTGATTAATAATACACGTTTCCTAATGTGGGATATTGGTGGCCAAGAATCTCTTCGTTCTTCCTGGAACACTTACTATACTAACACAGAG|ATCTCAGGCCCAGAGGGGTCCTACCCGCAGCCTCTGGGGCAGCTGAATGCGCCCAAAGCCTCTGACATCTTTCTACACATCTGGGGTGTGTGGCAACCCTGTCCCGG MGILFTRIWRLFNHQEHKVIIVGLDNAGKTTILYQFSMNEVVHTSPTIGSNVEEIVINNTRFLMWDIGGQESLRSSWNTYYTNTE|isgpegsypqplgqlnapkasdiflhiwgvwqpcp 05BR001 ENSG00000162980.17 ENSG00000271952.2 -/- +/+ chr2:151814169 chr2:10884834 CDS/splice-site exon/splice-site inversion 2 5 0 127 19 high out-of-frame . ADP-ribosylation_factor_family(100%)| . . ENSG00000162980.17 ENSG00000271952.2 ENST00000295087.13 ENST00000670239.1 upstream upstream . ^(GCAGACAACGCGGCGGCGATGTCCGCGAGCCAGGCGAGTGCCGCGGCGGCAGCGGCGGGGCCTTGCGCGCGGCAGGGCGGCCTGGGCTTCGGCCTCCCTCCGGTTCCCTGGAAGCGGGCCCGCGACCAGCGCGGGAGCAGCAGCAGAGGCGGAGGCTCCAGCGCGTCTCTCTCCTCCCCCTCAGCCTGAGCCGGGGGAAGCCAGGCGGCCCGGGTGTCTGGAGGGGGGGGGTCCGCTGCCCGAGAATGGGAATTCTCTTCACTAGAATATGGAGACTGTTCAATCACCAGG___AGCACAAAGTTATCATTGTTGGGCTGGATAATGCAGGGAAAACTACCATTCTTTACCAATT___TTCTATGAATGAAGTTGTA)CATACATCTCCTACAATAGGAAGTAATGTAGAAGAGATAGTGATTAATAATACACGTTTCCTAATGTGGGATATTGGTGGCCAAGAATCTCTTCGTTCTTCCTGGAACACTTACTATACTAACACAGAG|GAAGGTCCACAGAAAACATCCTGGGGTCCTGAGCTGAAGTGTGATGGGAGGAGTCCTCTGTATCTCAGTCTGATCCTGGTCTCCCTCTCGGCCATGGTCTCACACTAGTGCTGCTGGGAAACCATCCCTCACATCCAGTCCTGGCATCGGGCAGTGACTCTGGTCCAACTGTTGTCCAACTCAAG(GGTTTAGCTGCTTAGATTTTCCTAAAACTTGAATTTCATTTTCCTCTAGCCATGGAATACAGATTAATCCTTTACAATTAAAATCCAAGTTCAGA)$ MGILFTRIWRLFNHQEHKVIIVGLDNAGKTTILYQFSMNEVVHTSPTIGSNVEEIVINNTRFLMWDIGGQESLRSSWNTYYTNTE|egpqktswgpelkcdgrsplylslilvslsamvsh* 05BR001 ENSG00000106009.16 ENSG00000151746.15 -/- +/- chr7:2554305 chr12:32216450 CDS/splice-site CDS translocation/5'-5' 1 4 0 27 11 high out-of-frame . . . . ENSG00000106009.16 ENSG00000151746.15 ENST00000340611.9 . upstream downstream . ^(GGGCGAGGGGTGGTTGCGGCGGAGGACGCAACCGAGCG___GGCCTGCGGCCTCACCATGGACCCAGAATGCGCCCAGCTGCTC)CCGGCTCTCTGTGCTGTTCTGGTAGATCCCAGGCAGCCGGTGGCAGATGACACCTGTTTGGAGAAGCTCCTGGACTGGTTTAAAACGGTCACTGAAGGAG|ATCCTGCACGACTGCGGTGAGCCTCTCGTTTTCTGCCTGTACATTAGTGACCACAGCCCGGCTCTGTTTCAGCTCGTTCTGCATCTCCAAGATCTTCCCCAGATAGTAAGCCTCCTTCGATGCTGACTCCTGCAGAAGCGTTTCC MDPECAQLLPALCAVLVDPRQPVADDTCLEKLLDWFKTVTEG|dparlr* 05BR001 ENSG00000141027.21 ENSG00000257683.1(6108),ENSG00000123066.8(61627) -/- ./+ chr17:16138158 chr12:115892245 CDS/splice-site intergenic translocation 3 2 0 46 4 high out-of-frame . G-protein_pathway_suppressor_2-interacting_domain(100%)| . . ENSG00000141027.21 . ENST00000268712.8 . upstream upstream . ^(GAGTCAAGATGGCGGCCAAGGTGGCGAAGCAGCAGCCGCGGCGGCGGCGGCGGCTGGAGTGAGCGTCCGACTCGCCGCGCCGAACGAGGTCCCGGTGTAGGGCCGCGCGCCGTGGCCGCGTCCCACTCCTCAGGCCGGGGCGCACGTCGGCTCCCACGCTTAGCCAGCTCCCG___GTGGTTTCCTAGAAACATGATTGTTTATTGGCATTGATCTCACAGTCTGGTGAGGACTTCTTTACTGATAATGTCAAGTTCAGGTTATCCTCCCAACCAAGGAGCATTCAGCACAGAACAAAGTCGTTATCCTCCTCACTCTGTCCAGTATACATTTCCCAACACCCGCCACCAGCAG___GAGTTCGCAGTCCCTGATTATCGTTCCTCTCATCTTGAAGTGAGTCAGGCATCACAGCTTTTGCAGCAACAGCAGCAGCAACAGCTTCGAAGGCGACCTTCCTTGCTTTCAGAATTTCACCCAGGTTCTGACAG___GCCTCAAGAAAGGAGAACTAGTTATGAACCGTTTCATCCAGGCCCATCCCCAGTGGATCATGATTCACTGGAATCGAAGCGACCACGTCTGGAACAGGTTTCTGATTCTCATTTTCAGCGTGTCAGTGCTGCGGTTTTGCCTTTAGTGCACCCGCTGCCAGAAGGGCTGAGGGCTTCTGCAGATGCTAAGAAG___GATCCAGCATTCGGAGGCAAACATGAAGCTCCATCCTCTCCAATTTCGGGGCAACCATGTGGAGATGATCAAAATGCTTCACCTTCAAAACTCTCAAAGGAAGAGTTAATACAGAGTATGGATCGTGTAGATCGAGAAATTGCAAAAGTAGAACAGCAGATCCTTAAACTGAAAAAGAAACAA___CAACAGCTTGAAGAAGAGGCAGCTAAACCTCCTGAGCCTGAGAAGCCCGTGTCCCCTCCTCCTGTGGAGCAGAAACACCGCAGTATTGTCCAAATTATTTATGATGAGAATCGG___AAAAAAGCAGAAGAAGCTCATAAAATTTTTGAAGGTCTTGGCCCAAAAGTTGAACTG___CCACTGTATAACCAGCCATCAGATACCAAGGTGTACCATGAGAACATCAAGAC___AAACCAGGTGATGAGGAAAAAACTCATTTTATTTTTTAAAAGAAGAAATCATGCAAGAAAACAAAGG___GAACAAAAAATCTGCCAGCGTTATGATCAGCTCATGGAGGCATGGGAGAAAAAAGTGGACAGAATAGAAAATAATCCTCGGAGGAAAGCTAAAGAAAGCAAAACAAGGGAATACTATGAAAAGCAGTTTCCAGAAATTCGAAAACAAAGAGAACAGCAAGAAAGATTTCAGCG___AGTTGGGCAGAGGGGAGCTGGTCTTTCAGCCACCATTGCTAGGAGTGAGCATGAGATTTCTGAAATTATTGATGGGCTCTCTGAGCAGGAG___AATAATGAGAAACAAATGCGGCAG)CTCTCTGTGATTCCACCTATGATGTTTGATGCAGAACAAAGACGAGTCAAGTTCATTAACATGAATGGGCTTATGGAGGACCCTATGAAAGTGTATAAAGATAGGCAGTTTATGAATGTTTGGACTGACCATGAAAAGGAGATCTTTAAGGACAA___GTTTATCCAGCATCCAAAAAACTTTGGACTAATTGCATCATACTTGGAGAGGAAG|GCACCATGCTGTCAGGAAGCTGATCTAGACCACTGGAGGAAGTGGGGCCACATGAAGAACTGAGGCCCCAGCCAAGAGCCAGAACCAACTATTAGATGTGTGAGGAAAGCGGCCTTGGACATCCCAGCCTCAGTCACACCTCCAGCTGAATGCAGCCACAAGAGTGGCCCCAGCCAACACCACACAGAACAGAAACGAACGTTCTCTGCTGAGCCCTGTGCAAATCACAAAATTGTGAGCAAATAAAT MSSSGYPPNQGAFSTEQSRYPPHSVQYTFPNTRHQQEFAVPDYRSSHLEVSQASQLLQQQQQQQLRRRPSLLSEFHPGSDRPQERRTSYEPFHPGPSPVDHDSLESKRPRLEQVSDSHFQRVSAAVLPLVHPLPEGLRASADAKKDPAFGGKHEAPSSPISGQPCGDDQNASPSKLSKEELIQSMDRVDREIAKVEQQILKLKKKQQQLEEEAAKPPEPEKPVSPPPVEQKHRSIVQIIYDENRKKAEEAHKIFEGLGPKVELPLYNQPSDTKVYHENIKTNQVMRKKLILFFKRRNHARKQREQKICQRYDQLMEAWEKKVDRIENNPRRKAKESKTREYYEKQFPEIRKQREQQERFQRVGQRGAGLSATIARSEHEISEIIDGLSEQENNEKQMRQLSVIPPMMFDAEQRRVKFINMNGLMEDPMKVYKDRQFMNVWTDHEKEIFKDKFIQHPKNFGLIASYLERK|apccqeadldhwrkwghmkn* 05BR001 ENSG00000111530.13 ENSG00000151468.11 +/+ -/- chr12:67282053 chr10:12898679 CDS/splice-site CDS/splice-site translocation 2 2 0 55 56 high out-of-frame . . . . ENSG00000111530.13 ENSG00000151468.11 ENST00000545606.6 ENST00000378839.1 downstream downstream duplicates(1) ^(CTTTTGCCCTAGGGAGCGAGTGCGGAGCGAGTGGGAGCGAGACGGCCCTGAGTGGAAGTGTCTGGCTCCCCGTAGAGGCCCTTCTGTACGCCCCGCCGCCCATGAGCTCGTTCTCACGCGAACAGCGCCGTCGTTAGGCTGGCTCTGTAGCCTCGGCTTACCCCGGGACAGGCCCACGCCTCGCCAGGGAGGGGGCAGCCCGTCGAGGCGCCTCCCTAGTCAGCGTCGGCGTCGCGCTGCGACCCTGGAAGCGGGAGCCGCCGCGAGCGAGAGGAGGAGCTCCAGTGGCGGCGGCGGCGGCGGCAGCGGCAGCGGGCAGCAGCTCCAGCAGCGCCAGCAGGCGGGATCGAGGCCGTCAACATGGCGAGCGCCTCGTAC)CACATTTCCAATTTGCTGGAAAAAATGACATCCAGCGACAAGGACTTTAG___GTTTATGGCTACAAATGATTTGATGACGGAACTGCAGAAAGATTCCATCAAGTTGGATGATGATAGTGAAAGGAAAGTAGTGAAAATGATTTTGAAGTTATTGGAAGATAAAAATGGAGAGGTACAGAATTTAGCTGTCAAATG|CTCATGTGCTCCTCGGTGCAGAAGGCCTTGTTTGAGGAGGAGGACCACGTCAAGAAACTGCAGCAGAAAGTGGCCACCCTGGAGAAGCGC(AACCGGCAGCTCCGGGAGCGAGTGAAGAAGGTCAAGAGGTCCTTGCGGCAGGCGCGTAAGAAGGGCCGCCACCTGGAGCTGGCGAACCAGAAACTCAGTGAGAAGCTGGCGGCGGGCGCGCTGCCGCACATCAATGCCCGGGGGCCCGTGCGCCCCCCCTACCTGCGGGGGTAACGGGCCTGGGGGCTGCCAGGTGTGCAGGGCCAATCCTGACGGTAATTGAGAATGAGTGAGGTTTCGTACATGCAGCTATTTCAAGGGTTGTAAGAGTTTTTGTTTTTAATCACGCATTTGGTAGAGTCTAAATGGATAAAATGCAAGGCTTGCTTTCCCCTTGGGTGCTGGCCTCAATGTCAGACCCCACGCGCTGCCCCTTCCTGGCCTGACCCCAGACGCAGTGCCTGGCAGTCCAGAGGCAGTGGGATCCCTGAGTGCTGAATGCTCGCCTGCAGAGCAGCCCAGAAAGAGCCCTGACTGGGGAGAGAACATTTTAGAATCTCTAGTGTAAAAGACATCAACGTGCTTAGCCTTTATTTCAGAAAAAAATCAGGGTGGTTCCCAGCTCCCCAGTCCAGGACAACCATTAGTCCTGATGAGTGAGCTGACGCTGGTGCTGGAACCTGCTGGCACCTCACTGGCCACATCTTTGGAAGGGGATGGTGGCCTTGCATCCAAGATGCCTGAAAATCAGCACGTGCAGGGCCTCCCTATCCAGCCAGCATTTTCCTTCCAGCTGAGGCAGGTGAAGACTTCATAAGCTCATCACAGGGGAGGGAATTAGGAGCAGGGCAGCAGGTAATTAAACAAGATAAATTATACCTGATTTCCAACACCAGCTACAAAGAGTTGAAGATGATACCTATGGGTCGCGTTAACACAGGGGGCAACTGCCTTGATCGGCCTGCCATGGGTCATCAGACTGCTTCCTAAATTGAGAGAAACTGAGCAATCTCTCAGCCACTGCTATAGTCTAACTTCTTGTTTGCTGAGTAATTGTTTCTAATGTCTCTGAACTCAAAGTGAGGTGCTCCAAGACGCTGTGAACTTCTGCAAAGACACCTCCTTACCTACTGGGATCACGTGACCTGACCTCACTCCCAGCCAGGCTCCCAAAGGGCTCATTCCAGCCATTCCAATCTCTTCTTCTTTATGCAAACACTTTTCCCCCACAACAAGCCTTGTTTGTTCCGATAGGAATACGTGTACGTCAGTGCACTTGTCCTTACGTCAGTTCCTTACACCACCAAAGCACTTCACCTTTCTGGAAATAAAACTTTTAAGACACTACTATAAGTAAAAATGAGAGTATTCACTAGACTTATTGCTCAGGCACATTTGAGTGGGTCCCAGCTGTGTGATTAAGAAGTCAACTGGGTGGCCTTTTCTGGGTTATCTTCTGATCATGGCCTTTCAACCCAACAAGGGCCCTTCCCTGCTCTTCCACCAGTAAAGGCTCCTGGCCTCTCATCAGGATCTGCCCCCCAGAGACCCCCCCCAGACACTGCAGGGCCTGGTGATGCTGTCCTCTGTACCGGAAATGGCAGGCACTGTCAGATTTCCACTCTTCTGCCTTTAGGAAGGCTGGGTGCTTCTTGCTCTGACAGCCAGTCTGGGGAGATGACTCTTACGTTGCTTGAGTCTTGGTGGCAGGCTGCTGTCCACGGGGGAGAAGTCTCTGCTCTGGACTGGACAGAAGAGAGACTTTTACCCTGGGGCACTCACACGGCCAAGCTTCTGCCACCACTTCATTAGCTGTATTCTCCATAGTATGGTGAAATAGCAGGTGCGTCTTCTAGTTTATTCCTCCTGGGGACATTTCCTCAAAGCAGTTTTGCGCCCCCGCAAGGGAATGGTCAGCCTAAGGGTAATGTACAGCCCGTGCTTGGAGAACCATGGAAGCTACACCCCTACAGGTGCATACTGTTCTGCTTTTCCAATAAATACGAGCGGCGATTTCAACCAC)$ MASASYHISNLLEKMTSSDKDFRFMATNDLMTELQKDSIKLDDDSERKVVKMILKLLEDKNGEVQNLAVKc|scaprcrrpclrrrttsrncsrkwppwrsatgssgse* 05BR001 ENSG00000225492.6 ENSG00000213512.3(3316),ENSG00000162654.9(1825) +/+ ./+ chr1:89410508 chr1:89179319 exon/splice-site intergenic duplication 0 3 1 63 36 high . . . . . ENSG00000225492.6 . ENST00000513638.5 . downstream upstream . ^(AAAATATTAGTCCAAGGATCCAGTGAGAGACACAGAAGTGCTAGAAGCCACTCCTCATGAACTAAGGAGAAAAAGAACAG___ACAAGGGAACACCCCAGACATGGTATCAGAGATCCACATGACAGGCCCAATGTGCCTCATTGAGAA)CACTAATGcGCGACTGATGGCGAATCCAGAAGCTCTGAAGATCCTTTCTGCCATTACGCAGCCTGTGGTGGTGGTGGCGACTGTGGGCCGCTAGCGCACAGGAAAATCCTACCTGATTAACAAGCTGGCTCAGAAGAAAAAGG|AGACCATCAAGCTTCAGAAGATCATGTGACAAATGTTCCAGCCAGTTCCAGTTGAAGACACCACCCCTGGCCATCAAGAAGCTACTCTGCCTCCACTAGACAGAGCAGGGTGACAGTTCCGTGATCCCCAATAGGTAGGGACTTTGCTTCAAGCCAGCATGAGGCAGTT . 05BR001 ENSG00000118922.17 ENSG00000286422.2 -/- -/- chr13:73764938 chr13:88522234 CDS/splice-site exon/splice-site duplication 2 1 0 11 8 high out-of-frame . . . . ENSG00000118922.17 ENSG00000286422.2 ENST00000377669.6 ENST00000662407.1 upstream downstream . ^(AATGTGACTCTAAGAACAAATGGATGAATGAATATCCATATGAAGAGAAAAACAATAAAG___AATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGG___TCTCCAAACGTCCACAACTATCCCGATATGGAAGCCGTTCCCCTGTTGCTAAATAATGTGAAAGGGGAGCCCCCGGAGGACTCGTTATCTGTAGATCACTTCCAAACACAAACTGAGCCAGTGGACTTGTCAATAAACAAAGCCAGGACGTCCCCTACTGCCGTTTCATCCTCCCCAGTTTCCATGACAGCATCTGCCTCCTCACCTTCTTCAACTTCAACCTCTTCATCGTCTTCTAGTCGTCTAGCCTCATCCCCAACTGTTATCACATCAGTATCTTCAGCGTCATCTTCGTCAACAGTATTAACTCCAGGGCCCCTTGTGGCCTCTGCATCTGGTGTTGGAGGCCAGCAGTTTTTGCACATTATCCATCCCGTACCGCCTTCAAGTCCCATGAATTTACAGTCTAACAAACTGAGTCATGTTCACCGCATCCCCGTGGTGGTACAGTCGGTGCCTGTTGTCTACACAGCTGTAAGGTCACCTGGAAATGTGAACAACACTATTGTCGTGCCGCTTTTGGAGGATGGGAGAGGCCATGGCAAAG___CACAAATGGACCCCCGAGGCCTATCTCCCAGACAAAGTAAAAGTGACAGTGATGATGATGACCTGCCAAATGTGACCTTAGATAGCGTTAATGAAACTGGATCTA)CGGCCCTTTCCATAGCCAGAGCAGTACAAGA___GGTACATCCGTCCCCAGTATCAAGGGTCCGGGGaAATCGAATGAATAATCAAAAGTTTCCTTG|GACACACACTCTTGGAACCCAACAACTATGCTATAAGAAAGCCCAAATTA$ MNIHMKRKTIKNINTFENRMLMLDGMPAVRVKTELLESEQGSPNVHNYPDMEAVPLLLNNVKGEPPEDSLSVDHFQTQTEPVDLSINKARTSPTAVSSSPVSMTASASSPSSTSTSSSSSSRLASSPTVITSVSSASSSSTVLTPGPLVASASGVGGQQFLHIIHPVPPSSPMNLQSNKLSHVHRIPVVVQSVPVVYTAVRSPGNVNNTIVVPLLEDGRGHGKAQMDPRGLSPRQSKSDSDDDDLPNVTLDSVNETGSTALSIARAVQEVHPSPVSRVRGNRMNNQKFPw|thtlgtqqlcykkaqi 05BR001 ENSG00000076258.10 ENSG00000094963.14 +/+ +/+ chr1:171324300 chr1:171207718 CDS/splice-site CDS/splice-site duplication 1 2 0 18 13 high in-frame . Flavin-binding_monooxygenase-like(100%)|Flavin-binding_monooxygenase-like(100%) . . ENSG00000076258.10 ENSG00000094963.14 ENST00000367749.4 ENST00000209929.10 downstream upstream . ^(ACACAACTTTTTTTCCTTAGTCTGTATACTTTCTGCTGTCACTAGCATAACAGAAAAGACGAATGGCTTTTGTTTTAAACTGAGGGCACTTTTACAAAAGTCATCTTTCCATTTATTTTTCTTTCAGAAAAAAGAATTTGGGTTTTGAGCTTTTTTAAAAAAAAAAGACAAACACTTTCCTTGACTTTGAGAAATAATTTAAGTCAAAGAATCTGCTCTATGCTAACCAAG___AGATAGAGCACAGCAAAGATCTGCCAGCCCCAGGCCTCTACCTAGTGGCCTGGAAATTCAAGTATTCTTATTGGTGGAGGCCATTTGTTTCTGATTAGAAGCTGTCTAAACCTCCTACTCCTCAACTCAAAGGAAAACACAG___AGCATACCATGGCCAAGAAAGTTGCAGTGATTGGAGCTGGTGTGAGTGGCCTCTCCTCCATCAAATGCTGTGTGGATGAGGACCTGGAGCCCACCTGCTTTGAGAGAAGTGATGACATTGGGGGATTATGGAAGTTTACT___GAATCTTCCAAAGATGGGATGACCAGGGTCTATAAGTCATTAGTGACAAATGTCTGTAAGGAAATGTCATGTTACAGTGACTTCCCTTTCCACGAAGATTATCCTAATTTCATGAACCATGAAAAATTTTGGGACTATCTCCAAGAATTTGCTGAGCACTTTGACCTCCTGAAATACATTCAGTTTAAG___)ACCACTGTGTGCAGCATAACGAAGCGTCCAGACTTCTCCGAAACTGGTCAGTGGGATGTTGTCACAGAGACAGAGGGCAAGCAAAATAGAGCTGTCTTTGATGCTGTTATGGTTTGCACTGGACATTTCCTGAATCCCCATTTACCTTTGGAAGCCTTTCCTG|GCTTGTGTAGCCTGCCCTCAGAGAGAACTATGATGATGGACATTATCAAAAGGAATGAAAAAAGAAT(TGACCT___GTTTGGAGAAAGCCAGAGCCAGACGTTGCAGACCAATTATGTTGACTACTTGGACGAGCTCGCCTTAGAGATAGGTGCGAAGCCAGATTTCTGCTCTCTCTTGTTCAAAGATCCTAAACTGGCTGTGAGACTCTATTTCGGACCCTGCAACTCCTATCAGTATCGCCTGGTTGGGCCTGGGCAATGGGAAGGAGCCAGAAATGCCATCTTCACCCAGAAACAAAGAATACTGAAGCCACTCAAGACTCGGGCCCTGAAGGATTCATCTAATTTCTCAGTTTCTTTTCTGTTGAAAATCCTGGGCCTTCTTGCTGTTGTTGTGGCCTTTTTTTGCCAACTTCAATGGTCCTAGTCAGCATAATGCTTTGGGCTTTATTATCTTGTCAGTCACTACCTCCTAAAGAAAAAAAAAAAGGCTAGAAGAAAAAACATTACATTCATGTTCTAATTATAGATTTTAGAGTTAGGTAGTACAGGTAAGGGGGAAATTGTAAAGAATTAGCAGAATTAGGCATATGTACAAAACCAAAATTTTGTCATGAAATTTTGCCTTTCCACGCTTCCCTCAGTTCACCAAAGTTACCAAAATGTAAAATAAAATAAGACTGGCTCAGGTAAGTAGTGCTGCCAACCCTGATATAGGGGAGTTGTATGGAAAAATAGTAGAATTACACAGCATGAAAAGCAGCCCATGGTTTAAATTATTGGACAATTTAAATTGTGGGTAAATATTTAAAACTCCTGAACAATGTTTCTGATGGTCTTCTATCCACCCTACTTGGTAACAAAGTTCTCAGATGTTAGGTCATGTTTCATTTGCTCAGTCGGGGATCACTCAAAACTACTAGACAAAAAAGTGAGAGGATAGATTTAGAAAACATCAGTGATGCTCAGATAAACTTTTAGGACCTCATATTAAGAGCTAAGCAAATGGCCACATTTCCTATATTTTGACAGAGATACTGCTGGAAAAATTAAAATTAAAATGCCATAATAGCTACCTAACAAATATATATGTTTAATGTTTATCATAGGCCAGACATTGTGCTATGTGCATATCATATGTATTATTTCATTTAATTCTCACAACAATTCTGTGAAATGGTTACAGCTATTATAGTCATTTCACAGATGATGAAACTAAGATTCAGAGCAGCTGATCTTGTGAGGCAGCTGGAATTGGAACTCAGATTTGTTGAACTCTAGAACTAAAGATCATAATGTTGTCTTGTAATATATTTATTTACAAAACACTTCATTATTTATAAAGAATTTACTAACAGTTTATCTTATTTATACCCATACATCTGCTACTTTGGGAGGCCCTTTACATAGAAAACAGCATTCTTTTTGCCAAATATGACCAAATTACTTTTATTTATAATTTTTGATTTATATTTCAGCTAGATCTAAAAAGCATCTGAAGGAATTTACAATGAAAGATACCTATGCAATAACATTTAGGATAATCTTTGACATTTTGGAAAAATAAGAATTGAGGAAAAAAAGTGTATCTTTCAAGTAGATGCAAAGCATTATAATGACTGACACTTGTATCTAACTCCAGTCTTACAGATAACTAAGGCAAAAAGCTAAATAAACAATATGTAACCTCTAACATTTGGTAAAAGGAAGTATACTGGTCTGTTAGCAGAGACAAACTTTTTTTAGAATTGAAGTCTGAAACAAACAAAAGCAATTCAATGTCAATAGACATTAAGCAACATAATAGACAAACATCTCCTAAGGGAACATTTGTTACAGCTGCTCCTTCCCTGAACTGTGCTTTGGAAGATAAGCTCTGTCCTGAGTCCAAACCAAGCCCTTCCAAGAGAGAACAAAGGTCAGAGATGTTGAAGATTCCAGCAAATTTCTCCTCTTATTTCTACCAAGCCTTTGTGAACATTGCTCTTCATTTTGGCCTGTACTTCTCCCTCAGGGACGTAGAACAATGGAATGTCAGTCAGTCTCTGTAGTTAAAACTTTTTCTTTAAAATTCAATTAAGGTACTTCTCCCTCAGGGACGTAGAACAATGGAATGTCAGTCAGTCTCTGTAGTTAAAACTTTTTCTTTAAAATTCAATTAAGGTACTTCTCCCTCAGGGACGTAGAACAATGGAATGTCAGTCAGTCTCTGTAGTTAAAACTTTTTCTTTAAAATTCAATTAAGTTACACCAGAATTTACAGGCAAGATTTTTTTTTTCATTGCTCCCATAAGCAAATTTGTTTTAAAATAATTGTAAATGAGGTATATACTTAGTTCTTGGTTAAAAAATATATTGCTTTGTTAAGTATTAAAGATTATTTGTAAGTCATTGTATTAATAATACTAATAAAATTTATCAAGCCTTTATAGCAAGGGTCAGTGAATTACCACTGCCTGTGGGCCAAATCTAGCTCACTATCTGTTTTTGTAAATAAAATTTTATAATAGTACACAGCCACACTCATTCATTTATTTTCTGTGGTTGCTTTCAAGCTACAATTGTAGAGTTGGGTAGTCGCAACAGAATCTCTGTGGCCCACAAGGCTAAAATATTTACATTCTCACCCATTACAGAAAAAGTTTGATAATTCCTGCTTTATAATATGTAAGGCATTGTCCCATTTTGCATAACTTGCCTTATTTCATCATTATCACTACCCATTTAGTAGCTATGGTTGTTATCTTACTTCTACAGTGGAAGAGATTGAAAAGCATTTGTCAGGTTAATGCTAAATCAGTGCGGAAATATAGCTCCACTAGGAAAATATTATTAAATTTATATCCCTAAAATTTTTAGAAATCTCTCAAAATCTTTCCAAATGTTCTGGTATCTTTGAAAAATGTAAATAGTTTATTTATAGAGAACCCTACCTCTGAGGTTGACTCAAAGGTTAAAGAAGGCTCATCAGTCTATCCTTCTGCCTCCATATATCCTGAACATCAAACTATCCCAGGAAAACCATCTAGAGTAGTTTGTTTCAAAATATTAGCCACAGACCACCTACATCACAATAACTCAGGGAGCTTATAGAAGTGAAGATTCCTGAATATAAACATAGTAATAATTCAACCTACTGAATGGAAATCTCTGCTGAAATCCACAGTTTTCATAAGCTCCCCAGATGATTCCTGTGTACATTAAATCTAGAAACCATTAGTTTGAGATCTCTCAAAAATAAAAATAAAAATTGCTTTCAGAGAGTAGCCCATGAAATTTCCCATTCTTCAAGGACAAATTCCTTCTGTTCAGCCTTGGTCCTCCAACTGCAGTTTACAATTTTTGTTCTTCTCCTGTAAAGAATGTCAATGGTTATCACCTTCAATAGTTTCAATATGTCCCCCAAAGTTATGTGTTTGAAACTTGCAATAGTATTGGGAGATGGGGCCTAATGAGGTGATTAGGTGAAGTCTCTGCCCTCATGAAAAGATTAATCCCATTATCTCAGGAGTGTGTTGGTTATAAAAGCAAGTTTGGCTCCCTCTTTTCCTCACACACTCTTTTTCCCTTCTGCCTTCACCTTTGCCGTGGGTGGACACAGCAAGAAGGCCCTCATCAGATGCTGGCCCCTTGGTCTTGAATTTCCTAGCCTCTACAACTAAGCCAAATAAATTTCTGTTTATTATAAATAACCCAGTCTCAGATATTCTGTTACAGAAACACAAAATGGACTAAGACACCACCCTTTTCCAAAATCTCTCCTTGTGATGGCTCCCTTTACTAACCTTTCTTTTAGCTATTCCCTTTATGATAGTTTCTTAATTTTTTCTATCAAAAGCTAAATATGGCACACTTGTTCTTTACAGAAAAATAAAGATATTTTAAACAAAATACTAGGGCCATGGTATGTAATAAAATTTGAAACAATAATTTCAAATAATAAAGATTGAAAATGCTTAACCCAGAAA)$ MAKKVAVIGAGVSGLSSIKCCVDEDLEPTCFERSDDIGGLWKFTESSKDGMTRVYKSLVTNVCKEMSCYSDFPFHEDYPNFMNHEKFWDYLQEFAEHFDLLKYIQFKTTVCSITKRPDFSETGQWDVVTETEGKQNRAVFDAVMVCTGHFLNPHLPLEAFP|gLCSLPSERTMMMDIIKRNEKRIDLFGESQSQTLQTNYVDYLDELALEIGAKPDFCSLLFKDPKLAVRLYFGPCNSYQYRLVGPGQWEGARNAIFTQKQRILKPLKTRALKDSSNFSVSFLLKILGLLAVVVAFFCQLQWS* 05BR001 ENSG00000128989.10 ENSG00000047346.12 -/- -/- chr15:52557100 chr15:52601165 CDS/splice-site CDS/splice-site duplication 5 2 0 180 53 medium in-frame . |Chromosome_segregation_during_meiosis(100%),Domain_of_unknown_function_(DUF4210)(100%) . . ENSG00000128989.10 ENSG00000047346.12 ENST00000566423.5 ENST00000261844.11 upstream downstream . ^(AGAAACTACAATTCCCAGGAAGCACTCGGCAGCCACAAACGGATGTGAGGTGAGGCAGGAGCGGCGACCTTTGAAGGAAAAAAGGAAGTGTTTGGA)CGACAGCGAGCGGGAGAAGCGGGGTCAA___AGGGAGCACTATGTCTGCGGAAGTCCCCGAGGCAGCCTCCGCGGAGGAGCAGAAG___GAAATGGAAGATAAAGTGACTAGTCCAGAGAAAGCAGAAGAAGCAAAATTAAAAGCAAGATATCCTCATCTGGGACAAAAGCCTGGAGGTTCAGATTTCTTAAGGAAACGGTTGCAGAAAGGG|GTTCCTCAAAGAAAAACACAATCAGGTTGCTTTGATCTGGATTCTTCATTACTACATCTGAAAAGCTTCTCATCTAGAAG___TCCTCGACCATGTTTAAACATTGAAGATGATCCAGATATTCATGAAAAACCATTTTTGAGTTCTAGTGCTCCACCTATAACAAGTC(TTAGTCTCCTAGGAAATTTTGAG___GAATCTGTCTTGAACTATCGTTTCGATCCTCTCGGCATTGTTGATGGTTTTACTGCCGAGGTAGGGGCAAGTGGTGCTTTCTGCCCCACACATTTGACTCTTCCAGTTGAAGTGTCATTCTACAGTGTTTCAGATGACAATGCTCCCTCTCCTTATATG___GGTGTGATTACTTTAGAGTCCCTTGGTAAAAGGGGTTATCGAGTACCTCCTTCAGGAACAATACAAGTG___ACCTTATTTAATCCTAATAAGACTGTGGTGAAGATGTTTGTTGTGATATATGATTTACGAGATATGCCAGCCAATCATCAGACATTCCTACGACAAAGAACTTTTTCTGTACCTGTTAAACAAGAAGTGAAGAGAAGTGTTAATAAAGAGAACATCCGACACACAGAAGAACGGTTATTACGCTACCTCATACATCTGAG___GTTCCAGAGTTCTAAATCTGGAAAGATCTACCTCCATAGAGACGTACGGCTCCTGTTCTCTAGAAAGTCAATGGAGGTTGATAGCGGTGCTGCATATGAACTCAAATCTTACACTGAATCACCAACAAACCCTCAGTTTTCACCAAGATGTTGATAAGGAGTGATGATTTAAAGTATTTACTCAGTACCCAAGTTTGCAAGTAAAAATTAGCATAGAATGGAGTGTACCAAATTAACAATCAGGAGAGTGGATTCTCTCCTGTTATCCTGGACCAGTTTTTATGAAAGGATTCCTGAAATGAAATCCATATATTCCATGTAGACTGGAAAAACTCATGTCCTAATCCTTTTTGTACTGTTGAAACCACTTCATTGGACATGTTGCAATAGCAAAACCCCCAGTTAGATTAGTGTTTACACATTTTCTCAGTTATTTAATATTTAATGTTTTCCTTAATACTCAAGTGATGTTTGTCTCTAGTGTTCTAATGTAGCACAAATCCTATGTAAAATCATACTATGTATTTTTGACATTAATGTTGAAATCAAATATATGCACAAGTCTTTAATTTTGTGTAATGTGTTAAGTGCTGTTCATTTAAGTTATTGAAAATGAGAATAAAATGTTGAGCTTCTTTAAAAGTAACACACTATGCAAGCATGTGTACTTTTTATATCTCTCATGTTTAGTTTTTATAACACCATATCCAGGTTGCTATCTCACATAGTAGTCCTTTAACATATTGTATTAGCAGTGCAATGTGGACTAAGCTGCTTCACTTTCCCTTTGCAAGTTCAGATCATCATGCCCATTCATAGCCAGGATTCCTTATCCCCAAAACAGTTCTATTTTTCCTTAATCACTACTATAGAGTCTTTACATTAAATTACTGTCGTATGCTAGATAATTTTCTCAAATTGTTAAAAGAATATGTACTTTGGAAACAAATTAGTATTTATATTGTAAATATATTCAAAAAAAACTAA)$ MSAEVPEAASAEEQKEMEDKVTSPEKAEEAKLKARYPHLGQKPGGSDFLRKRLQKG|VPQRKTQSGCFDLDSSLLHLKSFSSRSPRPCLNIEDDPDIHEKPFLSSSAPPITSLSLLGNFEESVLNYRFDPLGIVDGFTAEVGASGAFCPTHLTLPVEVSFYSVSDDNAPSPYMGVITLESLGKRGYRVPPSGTIQVTLFNPNKTVVKMFVVIYDLRDMPANHQTFLRQRTFSVPVKQEVKRSVNKENIRHTEERLLRYLIHLRFQSSKSGKIYLHRDVRLLFSRKSMEVDSGAAYELKSYTESPTNPQFSPRC* 05BR001 ENSG00000050344.9 ENSG00000100038.19(1834),ENSG00000197549.9(6449) +/+ ./- chr7:26185596 chr22:21984650 CDS intergenic translocation 2 2 0 91 10 medium out-of-frame . . . . ENSG00000050344.9 . ENST00000056233.4 . downstream downstream . ^(GGAGCTTGGCCACCGCGCCGGGCTGCGGGCGGCTGGGCGAACGGGCTCGGCGCTCAGGTGGCTCCTTCTTCGCTTCTCCCGATCCCCGGCGGTGCCAGGCACGGTGCCGGCTGCCGAGGGAACGCCTTTGTGCCCGGTGCTGGGAACCCGCGACGGCCGCCACGCGCCCCGGTCCATTGTTTCGCTTATCTGGGTTCCAGGCAGGTGCGGGCGGCGCGCGGGGTCCGCACGTGTCACCCCGGCGGCTGGGGCGCCGGGACCCGCGGGCGCCGGCAGGGGCGTTCCCGGGCGCGCGGCGGCGATGAAGCACCTGAAGCGGTGGTGGTCGGCCGGCGGCGGCCTCCTGCACCTCACCCTCCTGCTGAGCTTGGCGGGGCTCCGCGTAGACCTAGATCTTTACCTGCTGCTGCCGCCGCCCACCCTGCTGCAGGACGAGCTGCTGTTCCTGGGCGGCCCGGCCAGCTCCGCCTACGCGCTCAGCCCCTTCTCGGCCTCGGGAGGGTGGGGGCGCGCGGGCCACTTGCACCCCAAGGGCCGGGAGCTGGACCCTGCCGCGCCGCCCGAGGGCCAGCTGCTCCGGGAGGTGCGCGCGCTCGGGGTCCCCTTCGTCCCTCGCACCAGCGTGGATGCATGGCTGGTGCACAGCGTGGCTGCCGGGAGCGCGGACGAGGCCCACGGGCTGCTCGGCGCCGCCGCCGCCTCGTCCACCGGAGGAGCCGGCGCCAGCGTGGACGGCGGCAGCCAGGCTGTGCAGGGGGGCGGCGGGGACCCCCGAGCGGCTCGGAGTGGCCCCTTGGACGCCGGGGAAGAGGAGAAGGCACCCGCGGAACCGACGGCTCAGGTGCCGGACGCTGGCGGATGTGCGAGCGAG___GAGAATGGGGTACTAAGAGAAAAGCACGAAGCTGTGGATCATAGTTCCCAGCATGAGGAAAATGAAGAAAGGGTGTCAGCCCAGAAGGAGAACTCACTTCAGCAGAATGATGATGATGAAAACAAAATAGCAGAGAAACCTGACTGGGAGGCAGAAAAGACCACTGAATCTAGAAATGAG___AGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAG___GGCATCTCATTGGGAGATATTCCTCTTCCAGGCAGTATCAGTGATGGCATGAATTCTTCAGCACATTATCATGTAAACTTCAGCCAGGCTATAAGTCAGGATGTGAATCTTCATGAGGCCATCTTGCTTTGTCCCAACAATACATTTAGAAGAGATCCAACAGCAAGGACTTCACAGTCACAAGAACCATTTCTGCAGTTAAATTCTCATACCACCAATCCTGAGCAAACCCTTCCTGGAACTAATTTGACAGGATTTCTTTCACCGGTTGACAATCATATGAGGAATCTAACAAGCCAAGACCTACTGTATGACCTTGACATAAATATATTTGATGAGATAAACTTAATGTCATTGGCCACAGAAGACAACTTTGATCCAATCGATGTTTCTCAGCTTTTTGATGAACCAGATTCTGATTCTGGCCTTTCTTTAGATTCAAGTCACAATAATACCTCTGTCATCAAGTCTAATTCCTCTCACTCTGTGTGTGATGAAGGTGCTATAGGTTATTGCACTGACCATGAATCTAGTTCCCATCATGACTTAGAAGGTGCTGTAGGTGGCTACTACCCAGAACCCAGTAAGCTTTGTCACTTGGATCAAAGTGATTCTGATTTCCATGGAGATCTTACATTTCAACACGTATTTCATAACCACACTTACCACTTACAGCCAACTGCACCAGAATCTACTTCTGAACCTTTTCCGTGGCCTGGGAAGTCACAGAAGATAAGGAGTAGATACCTTGAAGACACAGATAGAAACTTGAGCCGTGATGAACAGCGTGCTAAAGCTTTGCATATCCCTTTTTCTGTAGATGAAATTGTCGGCATGCCTGTTGATTCTTTCAATAGCATGTTAAGTAGATATTATCTGACAGACCTACAAGTCTCACTTATCCGTGACATCAGACGAAGAGGGAAAAATAAAGTTGCTGCGCAGAACTGT)CGTAAACGCAAATTGGACATAATTTTGAATTTAGAAGATGATGTATGTAACTTGCAAGCAAAGAAGGAAACTCTTAAGAGAGAGCAAGCACAATGTAACAAAGCTATTAACAT|TCGAGTCACAATATTTTCAACTTAAGATGGGTTTATGTGGATGTAGTTCCATCTGAAGTTGAGGAGCATCTGTATTGTAAAGACAGTAATGGCAGGATTTGTGGGTGGTCCAGGATGCTCCCAGGCgCTGTCCCTGAGCAACCAGGAAGATGGAGTTGCCATTTT MKHLKRWWSAGGGLLHLTLLLSLAGLRVDLDLYLLLPPPTLLQDELLFLGGPASSAYALSPFSASGGWGRAGHLHPKGRELDPAAPPEGQLLREVRALGVPFVPRTSVDAWLVHSVAAGSADEAHGLLGAAAASSTGGAGASVDGGSQAVQGGGGDPRAARSGPLDAGEEEKAPAEPTAQVPDAGGCASEENGVLREKHEAVDHSSQHEENEERVSAQKENSLQQNDDDENKIAEKPDWEAEKTTESRNERHLNGTDTSFSLEDLFQLLSSQPENSLEGISLGDIPLPGSISDGMNSSAHYHVNFSQAISQDVNLHEAILLCPNNTFRRDPTARTSQSQEPFLQLNSHTTNPEQTLPGTNLTGFLSPVDNHMRNLTSQDLLYDLDINIFDEINLMSLATEDNFDPIDVSQLFDEPDSDSGLSLDSSHNNTSVIKSNSSHSVCDEGAIGYCTDHESSSHHDLEGAVGGYYPEPSKLCHLDQSDSDFHGDLTFQHVFHNHTYHLQPTAPESTSEPFPWPGKSQKIRSRYLEDTDRNLSRDEQRAKALHIPFSVDEIVGMPVDSFNSMLSRYYLTDLQVSLIRDIRRRGKNKVAAQNCRKRKLDIILNLEDDVCNLQAKKETLKREQAQCNKAINi|rvtifst* 05BR001 ENSG00000175895.4 ENSG00000113593.12 +/+ +/+ chr8:95134030 chr5:65583038 5'UTR/splice-site CDS/splice-site translocation 0 4 0 29 101 medium . . |Cyclophilin_type_peptidyl-prolyl_cis-trans_isomerase/CLD(100%) . . ENSG00000175895.4 ENSG00000113593.12 ENST00000315367.4 ENST00000535264.5 downstream upstream . ^(AGAGGCCAGCCCAGGCAGCCGTTGTCGGGTTCGACTGGAGGGGCGGGGGAGTCACCTGCGAGCGGCTGCGCTGGCGGCCAGCCCGCCCACCGCGTCTGGATCGCGCCGGCTGCGCGGGGCTGCGGACAGCACACACCCTGGAAGGCCCCGGCGGGGAACGGGCAGAGTCCGCGCCCTGCGTC)CGCGACCAGGAGGATCGGACCTTCGCCTTCGCTGTCGCCGCCGCCGCCGCCCGCGGCCGTCGGG|TTTACCAAACGAGAACCAGAAGATACGAAAAGTGCAGATTCTGATCGAGATGTTTTTAATGAGAAACCTTCTAAAGAAGAAGTCATGGCAGCTACTCAAGCTGAAGGACCTAAACGAGTTTCGGAC(AGTGCCATTATCCACACCAGCATGGGAGACATTCACACCAAACTTTTTCCTGTTGA___GTGCCCTAAGACAGTGGAAAACTTCTGTGTTCACAGCAGAAATGGTTATTATAATGGGCATACATTTCACCGTATAATTAAG___GGCTTTATGATTCAGACTGGAGATCCAACAGGTACTGGTATGGGAGGAGAAAGCATATGGGGAGGAGAATTTGAAGATGAATTTCATTCAACATTACGACATGACAGGCCATACACACTCAGCATGGCTAACGCGGGATCAAATACTAATGGATCCCAGTTTTTCATAACGGTAGTACCAACG___CCTTGGCTTGATAATAAGCATACAGTATTTGGACGAGTGACTAAAGGAATGGAAGTTGTACAGAGGATCTCCAACGTCAAAGTCAATCCCAAAACAGATAAGCCCTATGAGGATGTCAGCATCATAAATATTACTGTCAAGTAAAATAAGATTTGTTTTAATGTACTTGCAAATAAAAATACAATATTAAACAGATTATTTTACATTAGGAAGCTTAGGACTTGCTGAATATACAGATCATGTTTCAAAGATACAGTATTTTTGTATTTTTTATTAAAGGCTATTTTTT)$ . 05BR001 ENSG00000131171.13 ENSG00000102021.11 +/+ +/+ chrX:81202245 chrX:115301992 CDS/splice-site CDS/splice-site deletion 2 2 0 378 16 medium out-of-frame . SH3-binding__glutamic_acid-rich_protein(100%)| . . ENSG00000131171.13 ENSG00000102021.11 ENST00000373212.6 ENST00000371920.4 downstream upstream . ^GCCAACCGCTGTTTCAGCCCCTAGCTGGATTCCAGCCATTGCTGCAGCTGCTCCACAGCCCTTTTCAGGACCCAAACAACCGCAGCCGCTGTTCCCAGGATGGTGATCCGTGTATATATTGCATCTTCCTCTGGCTCTACAGCG|ACGACATTATAATCTATAAAGAGTTAGAAGGGACAAATGCTGAAGAAGAAAAGAATAAAAGACAGAACCATAGTAAAAAGGAATCGCCTTCAAGACAGC(AATCAAAAGCTCATAGACATCGCCATCGGAGAG___GCTACTCAAGATGCAGAAGCAACTCTGAGGAAGGAAATCATGATAAAAAACCATCCCAAAAACCTTCTGGATTCAAGTCTGGACAACACCCTTTAAATGGGCAGCCTTTAATTGAGCAG___GAGAAGTGCAGTGACAATTATGAGGCCCAAGCAGAGAAGAATCAAGGCCAGTCAGAGGGGAACCAGCATCAATCAGAAGGAAATCCGGACAAATCAGAAGAATCCCAGGGCCAACCAGAAGAAAATCATCATTCTGAGCGATCCCGAAACCACTTAGAGAGATCTCTTTCTCAGTCAGACAGATCTCAAGGGCAGCTAAAGAGACATCATCCCCAATATGAGAGATCTCATGGCCAATACAAGAGATCTCATGGTCAATCTGAGAGATCTCATGGCCACTCAGAGAGATCTCATGGTCACTCAGAGAGATCTCATGGTCACTCAGAGAGATCTCATGGTCACTCAAAGAGATCTCGTAGCCAGGGAGATCTTGTGGACACTCAGAGTGATCTCATAGCCACTCAGAGAGATCTCATAGCCACTCAGAAAGATCTCATAGCCACTCAGAGAGATCTCATAGCCACTCAGAGAGATCTCATAGTCACTCAGAGAGATCTCGTGGCCACTGAGAGAGATCTCATAAATCAGTCAGGGAGATCTCATGGCCAATCAGAAAGACATCAGAGATACTCAACAGGTAAAAATACAATAACTACTTAATCATCAGAACAATGTGTTGAATTCTGTGGAAATAGAAAAGCATATATCTATATTCTAATGGCTAAATATGTATTTGTTGAAACATGTATATTGGGACAAAGACATAAATATTAGAATGGAGGTAATACATACATAGTATCAATATTGTTTCAACTTGATGTCCTCTAAGCTATCATCCAGTTACCCAGGATGTCCCATTAAGTTGTTCCCGGTAGGTCTGCTTTCCCTGGAAGAGCCGTATGTACTCAGCCTTTCCTATTGGGCCTTCCCCACAATTAGAATATTTTGACTTAGTGTCCTGTCCCCCTTGGACGTTCCAACTTGACTTAGTGTCCAGTGCCCCTTGGACATTCCAACCTGGTAGGTAAGCTAATCTAACAACTAACTGCCAAATTGATAATATATAATCTATGATAATGAATATCTCTTTTGTGTCTCCTTCCTAAGCCATCCTCAGAGAGTCCTTAGCAGACAAATGGTAGATGTATCTTTGGGCAGCTGAACTTTTCTGCTTTCCTCAAATCAGACCATATGAGAGGATATATTCTATGCATAGATGTAATGCTAACCTTCTGAATATATTTTGAATACATTTATATATTCACTGTTGCCTTATAAAACTGTTAGGGTAGGTCTGTCTACCCTAGCAAAAGAAACACAGAAATTTAAATGTACTGGGAGTTATGTTGTTAAAAACACAAGATATGTTAACTGCAGTTTGTTTGGTTATTCAATAAAAGTTTTAGTTTTAATTTCTCA)$ MVIRVYIASSSGSTA|ttl* 05BR001 ENSG00000064042.18 ENSG00000145990.11 +/+ -/- chr4:41698322 chr6:13386872 3'UTR intron translocation 2 1 0 37 3 medium stop-codon . Calponin_homology_(CH)_domain(100%),Domain_of_unknown_function_(DUF4757)(100%),LIM_domain(100%)|Oxidoreductase_family__C-terminal_alpha/beta_domain(100%),Oxidoreductase_family__NAD-binding_Rossmann_fold(100%) . . ENSG00000064042.18 ENSG00000145990.11 ENST00000513024.5 . downstream downstream . ^(GGATCGGGAGACCATTATGGGATGGGGAAGCCTTTACCATACCTAGGCCTGGGAGGTTGAGTGGGACAAGAGGAGATGAGGAACCTTCTGGAAACCCCCTAACCACCTGCAGGAAGGGACGAGATAAATAAATGCACGTCTCTCTTCAGCTCACTGACCATCTGCCTACCTCCCGTTAATGGAACCGCGACTCACAG___CAAGTAACTGGCAGAAGTTTTGGTGATAAAGATTTTCGGACAGGTTTAGAAAATGGAATCCTCCTCTGCGA___GTTGCTGAATGCTATAAAGCCAGGACTTGTTAAAAAGATCAATAGATTGCCTACCCCCATTGCAGGACTG___GACAATATTATCTTATTCTTGAGAGGTTGTAAAGAGCTCGGCCTTAAAGAATCTCAACTTTTTGACCCGAGTGACCTCCAGGATACATCCAACAGAGTAACAGTCAA___GAGCCTTGATTATAGTAGGAAGCTGAAAAAT___GTATTAGTTACCATTTACTGGCTGGGAAAAGCAGCAAACAGCTGCACATCCTACAGCGGAACGACACTAAACCTGAAGGAGTTTGAAGGATTGTTGGCTCAGATGCGAAAG___GACACTGATGACATTGAAAGTCCTAAACGCAGTATCCGAGACAGTGGCTACATCGACTGCTGGGATTCCGAGCGCAGCGACTCCCTCTCTCCTCCTCGCCACGGCAGAGATGATTCCTTCGACAGCCTGGATTCCTTTGGCTCTCGCTCTCGGCAGACGCCTTCACCAGATGTAGTCCTCAGGGGAAGCAGCGATG___GGAGAGGAAGCGACTCTGAATCCGACTTGCCTCATCGGAAGCTGCCAGATGTGAAGAAGGATGACATGTCTGCACGGCGGACTTCCCATGGTGAGCCGAAATCAGCAGTGCCTTTTAACCAGTACCTCCCGAACAAAAGCAATCAGACGGCCTACGTCCCCGCGCCTCTGAGAAAGAAGAAAGCAGAGAGAGAGGAATACCGCAAGAGCTGGAGTACCGCCACCTCCCCGCTGGGTGGGGAGAGGCCCTTCAG___GAGCACCAGCATGTTTGACATGCGGTGTGAGGAGGAGGCCGCGGTGCAGCCGCACAGCAGGGCCCGCCAGGAGCAGCTGCAGCTGATAAATAACCAGCTGAGGGAAGAGGACGACAAATGGCAAGAT___GACCTGGCTCGTTGGAAGAGTCGTAGAAGAAGTGTTTCTCAGGACTTAATCAAGAAAGAGGAAGAAAGGAAAAAAATGGAGAAGTTACTGGCTGGAGAAGATGGGACAAGTGAACGAAGGAAAAGCATCAAAACCTACAGAGAAATTGTTCAAGAAAA___AGAGCGGAGAGAGAGAGAGCTGCATGAAGCATATAAGAACGCTCGGTCCCAGGAGGAGGCAGAGGGGATCCTTCAACAGTACATTGAGAGGTTCACCATCAGTGAGGCTGTTCTCGAACGCTTGGAGATGCCAAAAATTCTGGAAAGAAGCCATTCAACAGAGCCAAATTTATCCTCCTTCCTGAATGACCCCAATCCCATGAAATACCTGCGGCAACAGTCACTGCCTCCACCCAAATTCACTGCCACTGTTGAAACCACCATTGCTCGTGCCAGTGTTCTGGATACCAGCATGTCAGCAGGCAGTGGGTCTCCAAGCAAAACTGTCACTCCCAAAGCAGTGCCTATGCTGACACCCAAGCCTTACTCCCAGCCCAAAAATTCTCAAGATGTTCTGAAGACCTTTAAG___GTAGACGGGAAAGTCAGTGTGAATGGAGAGACGGTTCATAGAGAGGAGGAGAAGGAAAGAGAGTGTCCCACGGTGGCACCTGCCCACTCCTTAACCAAATCCCAGATGTTTGAAGGTGTGGCCAGAGTGCACGGGTCTCCACTGGAGCTGAAACAAGACAACGGTAGCATCGAGATCAACATAAAGAAGCCAAACTCTGTTCCCCAAGAGCTCGCA___GCAACCACTGAGAAAACGGAACCGAATAGTCAAGAGGACAAGAATGATGGTGGAAAATCAAGAAAAGGGAATATAGAACTTGCCTCATCAG___AACCACAGCATTTTACAACAACTGTGACTCGATGCAGCCCGACCGTGGCCTTTGTGGAATTTCCCTCCAGCCCCCAGCTGAAGAATGATGTGTCGGAAGAAAAAGACCAGAAGAAACCAGAAAATGAAATGAGTGGAAAGGTGGAGTTGGTGCTGTCACAAAAG___GTGGTAAAGCCAAAATCTCCAGAACCCGAAGCAACGCTGACATTTCCATTTCTGGACAAAATGCCTGAAGCCAACCAACTACATTTGCCAAATCTCAATTCTCAAG___AGTCGCCTGGCACTGCCAGTGTTCCGCTTAGAGTTCAGAACTCTTGGCGACGATCCCAGTTTTTCTCCCAGTCAG___TGGATTCTCCAAGCAGTGAGAAGTCACCTGTTATGACACCT___TTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAG___GAGAGATACCAGAAGGAGCAGGACAAGCTGAAAGAAGAGTGGGAAAAGGCCCAAAAGGAGGTGGAAGAGGAAGAACGCAGATACTATGAGGAG___GAGCGTAAGATAATTGAAGACACTGTGGTTCCATTTACTGTTTCTTCAAGTTCCGCTGACCAGCTGTCTACCTCTTCCTCCATGACTGAAGGCAGTGGGACAATG___AATAAGATAGACCTGGGAAACTGTCAAGATGAAAAACAAGACAGAAGATGGAAGAAATCATTCCAGGGAGATGACAGTGACTTATTGCTGAAGACTAGGGAAAGTGATCGACTGGAGGAGAAGGGCAG___CCTAACTGAAGGGGCCTTGGCTCATTCTGGGAACCCTGTATCAAAAGGAGTCCATGAAGACCATCAGCTGGATACCGAGGCTGGGGCCCCACACTGTGGAACAAACCCACAGCTTGCTCAGG___ATCCATCCCAGAATCAGCAGACATCAAATCCAACGCACAGTTCAGAAGATGTGAAGCCAAAAACCCTCCCGCTGGATAAAAGCATTAACCATCAGATCGAGTCTCCCAGTGAAAGGCGGAA___GTCTATAAGTGGAAAGAAGCTGTGCTCTTCCTGTGGGCTTCCTTTGGGTAAAGGAGCTGCAATGATCATCGAGACCCTCAATCTCTATTTTCACATCCAGTGTTTCAGG___TGTGGAATTTGTAAAGGCCAGCTTGGAGATGCAGTGAGTGGGACGGATGTTAGGATTCGAAATGGTCTCCTGAACTGTAATGATTGCTACATGCGATCCAGAA___GTGCCGGGCAGCCTACAACATTGTGACACGGCTTTCAAGCTTCCGGATCACTCACCATTTCTTTACTGAGAGTGTCCCCTGGCAACTGCTTAACAAAATCCCAAGCTCAGGGGCTTCTCAGCATTTACCTAATTTCTGAAAGGCTCTTCTGAAAGGTGGTATCTGTTCTTTCGTAGCACAGTGTTTATGTTTTTCCTGTTTATTGTTTTGGTTTTTTTTTTTTTTTTGCATTTGCACAGTATACACAAAAGAATATGGGGTTGTAATGATCCTGAATAGCTCAAAAAAGGTTTTAGCATGGTCAAACAGGCTTATGGTTTAAAATGTGTTATTCTCTTCTTTGGGAATTAGCTAAATGATGCAATAAACCTGTTTTGTTTTAGAATGTCTAGGAATTAAACACTTTATGTTTACAGAATTGAGCTGCAGAAAGTGCAAGACATGCCAATTTGAGACACACGGTCTTCTAAGACTGAAGGATAAATTTAATGCATTTCAGAAACTAAACATCACAGCAAGCTCTATCTCTGAGCTATAATTTGTTTTTAATGCAAAGACACTAGTTTGATAATATATACTGTAATCCTGAAACATTTGTGTTACTTACCTTTGGAGGTAGAAATTATACCAATAAATTATTGCACCGTTAGTATTAGATTCTGTGTACCTTGGAAGTTATGTCATTAATATAGGCTGGTTCATCAAATAAAGCAAAACCTTGCAATATCAGCTAGATTTACACTCCGGGACGTTGCCCAAAGGTAGGAAGAAAGCAGAGGGAAATATTTCAGTCATCATTTCCAAAGTCATTATCAAAATCTGTGAGGAAGTTTAATCTTCCAAAGAGTCAATGTCAGACATCAGGCCTCTGTTGCCTGCTTCTCTCGAGGCACTAGATTAGGAGTCTTCAATAAGAGACTTAACATGAGGTATATGGAAGATGAGGCACCGAGATAAGTTCATCATTAGGTGTGAGCACTGCTCACCCTTGCTGGCAA)GTTCTCCTTAAGGGCCTGAAGCACAGGTGTCCAAAGAAAAGCGTTAAGTCCATCTTAATAGAATCTATGTGGTATATGATGTGGTCAGCCCCTGGTCTGTGATCAGCAAGAACCTACAGCACAGATTATGCCCTGCCCACTTCAATGAATACCTACTCTCCTCCA|ATCTTGAACCCCCTGTAGGGCCGGTGTTCCTCAGAAACGCTTCAGAACAGCTGTTGTAGTCCCATCTCGCTTTGCCAATGAGGAAATGGTGCCCAAGGCCACACAGATGGTGGCTGAGTCAGGACTGGGACACGAGACCAG . 05BR001 ENSG00000152894.14 ENSG00000236068.2 -/- -/- chr6:127990769 chr5:64416146 CDS/splice-site intron translocation 3 0 0 48 1 medium out-of-frame . Fibronectin_type_III_domain(100%),Immunoglobulin_I-set_domain(100%),MAM_domain__meprin/A5/mu(100%),Protein-tyrosine_phosphatase(100%)| . . ENSG00000152894.14 ENSG00000236068.2 ENST00000368226.8 . upstream downstream . ^(AGAAGCGCCCGGAGCCCGCGGGGCGACGTCACCCCCGGCTCCGCCCCCGTCCCTCCCCGAGCAAAGTAACTCTTGACTAACAGGAGCAGCCTCCGCCGAGCATGGAGAGCTGCCGCCGCGGCCGGCCGGCGACGCTGGCGACGCTTTCGCCCCTGAGGTAGTTTGGCGACCGCGAAGAAGGAAAAAGGGCGGGCGGGCGGCTGTCCTCTCACCGTCCTCACCCCGCGAGGCCCGGCCCGCTCCTCCGTCGTGGATTTCGCGGCGATCCCCCCGGCAGCTCTTTGCAAAGCTGCTTGAAACTTCTCCCAAACTCGGCATGGATACGACTGCGGCGGCGGCGCTGCCTGCTTTTGTGGCGCTCTTGCTCCTCTCTCCTTGGCCTCTCCTGGGATCGGCCCAAGGCCAGTTCTCCGCAG___GTGGCTGTACTTTTGATGATGGTCCAGGGGCCTGTGATTACCACCAGGATCTGTATGATGACTTTGAATGGGTGCATGTTAGTGCTCAAGAGCCTCATTATCTACCACCCGAGATGCCCCAAG___GTTCCTATATGATAGTGGACTCTTCAGATCACGACCCTGGAGAAAAAGCCAGACTTCAGCTGCCTACAATGAAGGAGAACGACACTCACTGCATTGATTTCAGTTACCTATTATATAGCCAGAAAGGACTGAATCCTGGCACTTTGAACATATTAGTTAGGGTGAATAAAGGACCTCTTGCCAATCCAATTTGGAATGTGACTGGATTCACGGGTAGAGATTGGCTTCGGGCTGAGCTAGCAGTGAGCACCTTTTGGCCCAATGAATATCAG___GTAATATTTGAAGCTGAAGTCTCAGGAGGGAGAAGTGGTTATATTGCCATTGATGACATCCAAGTACTGAGTTATCCTTGTG___ATAAATCTCCTCATTTCCTCCGTCTAGGGGATGTAGAGGTGAATGCAGGGCAAAACGCTACATTTCAGTGCATTGCCACAGGGAGAGATGCTGTGCATAACAAGTTATGGCTCCAG___AGACGAAATGGAGAAGATATACCAGTAGCCCAGACTAAGAACATCAATCATAGAAGGTTTGCCGCTTCCTTCAGATTGCAAGAAGTGACAAAAACTGACCAGGATTTGTATCGCTGTGTAACTCAGTCAGAACGAGGTTCCGGTGTGTCCAATTTTGCTCAACTTATTGTGAGAG___AACCGCCAAGACCCATTGCTCCTCCTCAGCTTCTTGGTGTTGGGCCTACATATTTGCTGATCCAACTAAATGCCAACTCGATCATTGGCGATGGTCCTATCATCCTGAAAGAAGTAGAGTACCGAATGACATCAGGATCCTGGACAGAAACCCATGCAGTCAATGCTCCAACTTACAAATTATGGCATTTAGATCCAGATACCGAATATGAGATCCGAGTTCTACTTACAAGACCTGGTGAAGGTGGAACGGGGCTCCCAGGACCTCCACTAATCACCAGAACAAAATGTGCAG___AACCTATGAGAACCCCAAAGACATTAAAGATTGCTGAAATACAGGCAAGACGGATTGCTGTGGACTGGGAATCCTTGGGTTACAACATTACGCGTTGCCACACTTTTAATGTCACTATCTGCTACCATTACTTCCGTGGTCACAACGAGAGCAAGGCAGACTGTTTGGACATGGACCCCAAAGCCCCTCAGCATGTTGTGAACCATCTGCCACCTTATACAAATGTCAGCCTCAAGATGATCCTAACCAATCCAGAGGGAAGGAAGGAGAGTGAAGAGACAATTATTCAAACTGATGAAGATG___TGCCTGGTCCCGTACCAGTAAAATCTCTTCAAGGAACATCCTTTGAAAATAAGATCTTCTTGAACTGGAAAGAACCTTTGGATCCAAATGGAATCATCACTCAATATGAG___ATCAGCTATAGCAGTATAAGATCATTTGATCCTGCAGTTCCAGTGGCTGGACCTCCCCAGACTGTATCAAATTTATGGAACAGTACACACCATGTCTTTATGCATCTCCACCCTGGAACCACGTACCAGTTTTTCATAAGAGCCAGCACGGTCAAAGGCTTTGGTCCAGCCACAGCCATCAATGTCACCACCAATATCTCAG___CTCCAACTTTACCTGACTATGAAGGAGTTGATGCCTCTCTCAATGAAACTGCCACCACAATAACTGTATTGTTGAGACCAGCACAAGCCAAAGGTGCTCCTATCAG___TGCTTATCAGATTGTTGTGGAAGAACTGCACCCACACCGAACCAAGAGAGAAGCCGGAGCCATGGAATGCTACCAGGTTCCTGTCACATACCAAAATGCCATGAGTGGGGGTGCACCGTATTACTTTGCTGCAGAACTCCCCCCGGGAAACCTACCTGAGCCTGCCCCGTTCACTGTGGGTGACAATCGGACCTACCAAGGCTTTTGGAACCCTCCTTTGGCTCCGCGCAAAGGATACAACATCTATTTCCAGGCGATGAGCAGTGTGGAGAAG___GAAACTAAAACCCAGTGCGTACGCATTGCTACAAAAG___CAGCAGCAACAGAAGAACCAGAAGTGATCCCAGATCCCGCCAAGCAGACAGACAGAGTGGTGAAAATAGCAGGAATTAGTGCTGGAATTTTGGTGTTCATCCTCCTTCTCCTAGTTGTCATATTAATTGTAAAAAAGAG___CAAACTTGCTAAAAAACGCAAAGATGCCATGGGGAATACCCGGCAGGAGATGACTCACATGGTGAATGCAATGGATCGAAGTTATGCTGATCAGAGCACTCTGCATGCAGAAGATCCTCTTTCCATCACCTTCATGGACCAACATAACTTTAGTCCAAGAT___ATGAGAACCACAGTGCTACAGCAGAGTCCAGTCGCCTTCTAGACGTACCTCGCTACCTCTGTGAGGGGACGGAATCCCCTTACCAGACAGGACAGCTGCATCCAGCCATCAGGGTAGCTGATTTACTGCAGCACATTAATCTCATGAAGACATCAGACAGCTATGGGTTCAAAGAGGAATATGAG___AGCTTTTTTGAAGGACAGTCAGCATCTTGGGATGTAGCTAAAAAAGATCAAAATAGAGCAAAAAACCGATATGGAAACATTATAGCAT___ATGATCACTCCAGAGTGATTTTGCAACCCGTAGAGGATGATCCTTCCTCAGATTATATTAATGCCAACTATATTGAT___GGCTACCAGAGACCAAGTCATTACATTGCAACCCAAG___GTCCCGTTCATGAAACAGTGTATGATTTCTGGAGGATGATTTGGCAAGAACAATCTGCTTGCATTGTGATGGTTACAAATTTAGTTGAGGTTGGCCGG___GTTAAATGCTATAAATATTGGC)CTGATGATACTGAAGTTTATGGTGACTTCAAAGTAACGTGTGTAGAAATGGAACCACTTGCTGAATATGTAGTTAGGACATTCACCCTGGAAAGG|GCACTCCTGATGATTCCCACGAGTTAAAGTGACGACAGATCTCTTGCTAGGCAACCCAAGATGG MDTTAAAALPAFVALLLLSPWPLLGSAQGQFSAGGCTFDDGPGACDYHQDLYDDFEWVHVSAQEPHYLPPEMPQGSYMIVDSSDHDPGEKARLQLPTMKENDTHCIDFSYLLYSQKGLNPGTLNILVRVNKGPLANPIWNVTGFTGRDWLRAELAVSTFWPNEYQVIFEAEVSGGRSGYIAIDDIQVLSYPCDKSPHFLRLGDVEVNAGQNATFQCIATGRDAVHNKLWLQRRNGEDIPVAQTKNINHRRFAASFRLQEVTKTDQDLYRCVTQSERGSGVSNFAQLIVREPPRPIAPPQLLGVGPTYLLIQLNANSIIGDGPIILKEVEYRMTSGSWTETHAVNAPTYKLWHLDPDTEYEIRVLLTRPGEGGTGLPGPPLITRTKCAEPMRTPKTLKIAEIQARRIAVDWESLGYNITRCHTFNVTICYHYFRGHNESKADCLDMDPKAPQHVVNHLPPYTNVSLKMILTNPEGRKESEETIIQTDEDVPGPVPVKSLQGTSFENKIFLNWKEPLDPNGIITQYEISYSSIRSFDPAVPVAGPPQTVSNLWNSTHHVFMHLHPGTTYQFFIRASTVKGFGPATAINVTTNISAPTLPDYEGVDASLNETATTITVLLRPAQAKGAPISAYQIVVEELHPHRTKREAGAMECYQVPVTYQNAMSGGAPYYFAAELPPGNLPEPAPFTVGDNRTYQGFWNPPLAPRKGYNIYFQAMSSVEKETKTQCVRIATKAAATEEPEVIPDPAKQTDRVVKIAGISAGILVFILLLLVVILIVKKSKLAKKRKDAMGNTRQEMTHMVNAMDRSYADQSTLHAEDPLSITFMDQHNFSPRYENHSATAESSRLLDVPRYLCEGTESPYQTGQLHPAIRVADLLQHINLMKTSDSYGFKEEYESFFEGQSASWDVAKKDQNRAKNRYGNIIAYDHSRVILQPVEDDPSSDYINANYIDGYQRPSHYIATQGPVHETVYDFWRMIWQEQSACIVMVTNLVEVGRVKCYKYWPDDTEVYGDFKVTCVEMEPLAEYVVRTFTLER|allmipts* 05BR001 ENSG00000065526.12 ENSG00000224081.9 +/+ -/- chr1:15876678 chr1:94673271 CDS/splice-site exon inversion 2 0 0 18 11 medium out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000065526.12 ENSG00000224081.9 ENST00000375759.8 ENST00000424505.2 downstream downstream . ^(AGTGGGAAGCGTCCGGCTGCCACAGCGCCAGCTCCGTCGTAGTCGCTGCCGCCCGTGTCCCGCTCGCCCCTCCTCCCGCTCCCCCGCCCGCCCCTGCCCGGGCGCATGCGCTGCCGGAGCGCGAGGGTCGGCTTCGGGTGTGTGGTGGCGGCAGAGCTGAGCTGCGAGGCCCGAGAGTCAGAACCTGGGGGAGAGGGATGGTCTCTGCACGGGGGGGAGCCGGAGGAGCCGCCGCCGCTGCCGACGCCACCGCCGCAGCCGCCGCCGCCGCCGCCCCGGCACCCGCCTCCCGGCGCTGACGGTCTCGTACGAAGCCGGCGAGGGGGAGCCAGCAGCGGCGGTCGCCGGCACGCCGCCCAGCATGGTCCGGGAAACCAGGCATCTCTGGGTGGGCAACTTACCCGAGAACGTGCGGGAAGAGAAGATCATCGAGCATTTCAAACG___ATATGGCCGCGTGGAAAGTGTCAAAATTCTTCCCAAGAGGGGATCTGAAGGAGGAGTGGCTGCCTTTGTGGATTTTGTGGACATCAAAAGTGCACAGAAAGCTCACAACTCGGTCAACAAAATGGGTGACAGAGACCTACGCACGGATTATAATGAACCAGGCACCATCCCGAGTGCTGCTCGGGGATTGGATGATACAGTTTCCATAGCATCTCGTAGTAGAGAGGTTTCTGGGTTCAGAGGAGGTGGTGGAGGGCCTGCTTATGGTCCCCCACCGTCACTTCATGCACGAGAAGGACGTTATGAGCGGAGACTTGATGG___GGCTTCAGATAACAGGGAGCGTGCTTATGAACATAGTGCCTATGGACACCATGAACGGGGGACGGGAGGATTTGATCGGACAAGACATTACGATCAGGATTACTATAGAGATCCTCGAGAGCGGACTTTACAACATGGGCTCTATTACGCTTCTCGGAGTCGAAGTCCAAATCGCTTTGATGCTCATGACCCCCGATATGAACCTAGGGCTCGCGAGCAGTTTACACTGCCCAGTGTGGTACACAGGGATATCTACAGGGATGATATTACCCGGGAGGTACGAGGCAGAAGGCCAGAGCGGAATTACCAGCACAGCAGGAGTCGGTCACCACATTCATCCCAGTCTAGA)AATCAGTCTCCTCAGAGACTGGCTAGCCAAGCATCTAGACCCACAAGGTCCCCTAGCGGCAGCGGCTCTAGAAGTAGATCCTCCAGTAGTGATTCAATCAGCAGCAGCAGTAGTACCAGCAGTGACAG|TGCTAAGCTCCTACATCCTGTTCTGGAAGGACAATCCTGAGCACACGATGAG(CCATATAAACTTCAGACTGACGCTGAGTGAAAGAATGCTGGAAAAGCATCACAGGCCAGGGCAGCAAAGTCTTCAAGGTCATCCGTGCTCTGATGATGTCACGCTTCTTCCCTGTCTGGAAGACATTTCCCCAAGAGCATACCACCAACATCAGGGAAATGGAATCCAACTGGTCGCTGCAAAGTTTGCTGAGCACACAGTGATAAAGATGGCAAGAAGGTCCTGAGAGAAACGCAATATTTTTGTGCAGAATGGGATGTTCTGCCTTTGTCCCATGCTTTGAAATTTACCACATGAAAAAT)$ MVRETRHLWVGNLPENVREEKIIEHFKRYGRVESVKILPKRGSEGGVAAFVDFVDIKSAQKAHNSVNKMGDRDLRTDYNEPGTIPSAARGLDDTVSIASRSREVSGFRGGGGGPAYGPPPSLHAREGRYERRLDGASDNRERAYEHSAYGHHERGTGGFDRTRHYDQDYYRDPRERTLQHGLYYASRSRSPNRFDAHDPRYEPRAREQFTLPSVVHRDIYRDDITREVRGRRPERNYQHSRSRSPHSSQSRNQSPQRLASQASRPTRSPSGSGSRSRSSSSDSISSSSSTSSDs|akllhpvlegqs* 05BR001 ENSG00000109466.14 ENSG00000145416.13(206765),ENSG00000251162.1(6904) +/+ ./+ chr4:165238899 chr4:164590815 CDS/splice-site intergenic duplication 2 0 0 25 8 medium out-of-frame . BTB/POZ_domain(100%)| . . ENSG00000109466.14 . ENST00000226725.11 . downstream upstream . ^(AGTCCCGTCACAGCGTCGGCGCCGGCCGGGGCCGAACCCGGAAGTGGCCGAGCCCGCGCGCCCGCCGGTCCCGTCGCCGCCGCCCCGCACTCGGGCGAGCGCGGGAGCCGCGCAGTAGACGGAGCGCGCCCGGCCGAGCGGGCCATGGCCGCGGGGGCCGCCGCCGCAGGTGGTGGCGCGCGGTGAGGAGAGCGCGGCGCCCCCTCCGGGGCGGATGGAACGCGGCTCGGCGGGCGGGCAGTGCCGGCGTCCGCGGCTGGAATGGTGCTGGCTGTGTTGGTCGGTGCCTGCGTTCTGAAGCCCGAGAGGAGCCACAATGGAGACGCCGCCGCTGCCTCCCGC___ATGCACAAAGCAGGGTCATCAGAAGCCTCTCGATTCAAAAGATGATAATACCGAAAAACACTGCCCAGTGACAGTGAATCCTTGGCATATGAAGAAAGCTTTCAAAGTCATGAACGAATTAAGAAG___TCAAAATTTGCTGTGCGATGTCACAATTGTGGCAGAAGACATGGAAATTTCTGCTCATAGAGTGGTGCTGGCCGCCTGTAGTC)CTTATTTTCATGCCATGTTTACAG___GTGAGATGAGTGAGAGCCGAGCAAAGAGAGTTAGAATAAAAGAGGTAGATGGCTGGACCCTGAGGATGCTAATTGATTATGTTTACACTGCAGAAATTCAGGTTACAGAAGAAAATGTACAG|TCTTTATAAAAAGAGGAAATTTGGACACAGACATGGACAGAG METPPLPPACTKQGHQKPLDSKDDNTEKHCPVTVNPWHMKKAFKVMNELRSQNLLCDVTIVAEDMEISAHRVVLAACSPYFHAMFTGEMSESRAKRVRIKEVDGWTLRMLIDYVYTAEIQVTEENVQ|sl* 05BR001 ENSG00000112624.12 ENSG00000156535.15 +/+ +/- chr6:42782101 chr6:73820373 5'UTR/splice-site intron inversion/3'-3' 1 1 0 3 6 medium . . . . . ENSG00000112624.12 ENSG00000156535.15 ENST00000614467.4 . downstream downstream . ^(CCCTGCCCTCCCCGAGCTCGGTCCCGGCCACTCCCTCCGCAGCTGGGCGTCGCCGGCCGCGCTGGG___GCGAGAACCGAAGTTTGGAGGTAGACGAGCAGGCGAGCGGTTTGCCCGGGCGCAGAGCATGAAGGCCGGGCGGGCGCGGGGAGCGGCGC___CCGCCGCCGCCGC)CGCCCCTGTTGCGATGGCGCAGAAACCCCGTTGACAAGGCACTGCTTTTTCATGACG|GAAACAGAGACTAACACTTAGGGAGGATTTCTACATGTCAGATACTGCA___CCAGGCATGGCGGCTCACACCTGTAATCCCAACACTTTGAGAAGCCAAGACCAGAAGATCAC . 05BR003 ENSG00000242553.1 ENSG00000128513.16 +/+ -/- chr21:37221597 chr7:124829342 exon/splice-site CDS/splice-site translocation 238 259 8 614 575 high . . . . . ENSG00000242553.1 ENSG00000128513.16 ENST00000440629.1 ENST00000393329.5 downstream downstream duplicates(85),low_entropy(2),mismatches(6) ^GCAGGAAGGAACTGAGAACACCAGCATCTGCTGCCGCCCTGAATCAGCGTTAGCATGTGGAGGCAACCTCAGCCCCCAGTTTTTGAAGAAGGTGATTCAGATTCAGACACAGGAATTATGGTGACGGTAGAAATGGACTGGAAGGTTCGTTCCCCTTGCCCACCAAGACTCCAGAGCAG|ATGTAAACAGTGTTCTAGTTTGAGATCCATACAAAATCTAAATTCCCTGGTTGATAAAACATCGTGGATTCCTTCTTCTGTGGCAGAAG___CACTGGGTATTGTACCCCTCCAATATGTGTTTGTTATGACCTTTACACTTGATGATGGAACAGGAGTACTAGAAGCCTATCTCATGGATTCT___GACAAATTCTTCCAGATTCCAGCATCAGAAGTTCTGATGGATGATGACCTTCAGAAAAGTGTGGATATGATCATGGATATGTTTTGTCCTCCAGGAATAAAAATTG___ATGCATATCCGTGGTTGGAATGCTTCATCAAGTCATACAATGTCAC(AAATGGAACAGATAATCAAATTTGCTATCAGATTTTTGACACCACAGTTGCAGAAGATGTAATCTAATATTGCCATCCAATTTAGCATACATAAAATGTTGCCACTCACCTTCCCTGTTTGAGCTTCTTTTCCTGACCTGAGTTTTGTATCAGCAATGTTGATGATGTTAGCATGGGTATGGGATTAGAAAATGTCCTTACCTTAAATCTCTTGGCTTTTACTGGGTGCAAGGTAAATAATGGCTATGGATTTTGTTTTGCTTTCTGTTTTGCTTTTGTACAAAGAGACCTGCTTAAACAAGTACTGCTGAGATAAGTGTCTGATCAAGCTACAGTGTACTTTAAGTAGAAATGGCAAAGTTGCTTTGTTGGGGTGCTGATACTGATGATTTTAGGATAAATTCATTTCTTTAAACTTGTAATACATGGTTTTATTGCTTGTTTCTCTCCAGGATAGTAGAGATTTCTCTATTTCACCTCAACCTAATAAAAGTGGTCAGATTTATAATGTTAATGACTTAATATTATCCTTTTCTAATAGTCTCATGTAAAATATGCCGCTATTACAACTTACAACTAATTGAATGAGATGTTAACTTAGTAAAATAGTTTGATTTTTACCTGACAGTGTTTGTCAAATTTAAAATCATGAATATTCAATTTTATACAAACATTTATATATATATATATAGATTTGTGTATGTTATTTGCCAAAGACAGATATAAATTACCTGGTTTAATATTAGTGAAGAATAAATAAGTGCACACATTTCAACTGTTTCATTTATTTGCCCTAAGTTGAGCTGAAAAATGATATGAGGCAAAGAATCGAAATAGGTGTGGCAATGCAGCAGATGTTTAGGGCTGTCTACATCCCAGGTACTGTGCTAAGCACTAAACATGTATTTGATCCTCACAGCAACCTATTTTTCCGATAAGAAATCTGAGGCTTGATTGATAAGCTGACTTGACTAAGTTCACACAGTTTGTAAAAGCTAGAGTCTGTGCCTTAATTCACATAATCTCTATTCAGAGCCTGTACTGTTAACCACTCAAGGATTCTGGAACAGAAGCTAACAGTTTTCTGCAACGAGTCTTTGACTTAAACATCTGAAATAACATTGGAAATAGATTATAAGAGGAGTCAGTGTGTTTTTCTATAGTTTCAAAATACTTTTAACATCTTATTGTCAAAAAGATTGGATAACTGACTTTCTTTGCTCATAATAACTCTAAATTCTAGTTCCTGAGTACATTAACACATCTTCTTTACCTAACTACCAATGTCCCCCATCATCGACTTATCAGCTTGTTTGAGACAATGAGAAAGACTGATTTTATTTTCAAGAATATAGACTCTTGGTTCAAAACATTTTCAGGAAAAATATTTTAAAACCCTACAGTTGAACAGGTGTGTTTCCGTGTTGATGATGTGCTCAGGATACAAAGGTGAAATAAACATTTTTTCTGCCTTCAGGAAGCCCTCAATCTAGAAGAGTAGAGGTCCAAAGGTGCCATATGTTCACACTGTGAGCCTGCAAGATCTCCACGTTAACAAAGGAAAACTCTTCCTATGAATCTTCATGATGATAGGCCATGTCTCTTCTTATTTTTGTTTTAAATAAACATCCACCTTATCATG)$ . 05BR003 ENSG00000242553.1 ENSG00000128513.16 +/+ -/- chr21:37221597 chr7:124827305 exon/splice-site CDS/splice-site translocation 32 4 1 614 797 high . . . . . ENSG00000242553.1 ENSG00000128513.16 ENST00000440629.1 ENST00000393329.5 downstream downstream . ^GCAGGAAGGAACTGAGAACACCAGCATCTGCTGCCGCCCTGAATCAGCGTTAGCATGTGGAGGCAACCTCAGCCCCCAGTTTTTGAAGAAGGTGATTCAGATTCAGACACAGGAATTATGGTGACGGTAGAAATGGACTGGAAGGTTCGTTCCCCTTGCCCACCAAGACTCCAGAGCAG|CACTGGGTATTGTACCCCTCCAATATGTGTTTGTTATGACCTTTACACTTGATGATGGAACAGGAGTACTAGAAGCCTATCTCATGGATTCT___GACAAATTCTTCCAGATTCCAGCATCAGAAGTTCTGATGGATGATGACCTTCAGAAAAGTGTGGATATGATCATGGATATGTTTTGTCCTC(CAGGAATAAAAATTG___ATGCATATCCGTGGTTGGAATGCTTCATCAAGTCATACAATGTCACAAATGGAACAGATAATCAAATTTGCTATCAGATTTTTGACACCACAGTTGCAGAAGATGTAATCTAATATTGCCATCCAATTTAGCATACATAAAATGTTGCCACTCACCTTCCCTGTTTGAGCTTCTTTTCCTGACCTGAGTTTTGTATCAGCAATGTTGATGATGTTAGCATGGGTATGGGATTAGAAAATGTCCTTACCTTAAATCTCTTGGCTTTTACTGGGTGCAAGGTAAATAATGGCTATGGATTTTGTTTTGCTTTCTGTTTTGCTTTTGTACAAAGAGACCTGCTTAAACAAGTACTGCTGAGATAAGTGTCTGATCAAGCTACAGTGTACTTTAAGTAGAAATGGCAAAGTTGCTTTGTTGGGGTGCTGATACTGATGATTTTAGGATAAATTCATTTCTTTAAACTTGTAATACATGGTTTTATTGCTTGTTTCTCTCCAGGATAGTAGAGATTTCTCTATTTCACCTCAACCTAATAAAAGTGGTCAGATTTATAATGTTAATGACTTAATATTATCCTTTTCTAATAGTCTCATGTAAAATATGCCGCTATTACAACTTACAACTAATTGAATGAGATGTTAACTTAGTAAAATAGTTTGATTTTTACCTGACAGTGTTTGTCAAATTTAAAATCATGAATATTCAATTTTATACAAACATTTATATATATATATATAGATTTGTGTATGTTATTTGCCAAAGACAGATATAAATTACCTGGTTTAATATTAGTGAAGAATAAATAAGTGCACACATTTCAACTGTTTCATTTATTTGCCCTAAGTTGAGCTGAAAAATGATATGAGGCAAAGAATCGAAATAGGTGTGGCAATGCAGCAGATGTTTAGGGCTGTCTACATCCCAGGTACTGTGCTAAGCACTAAACATGTATTTGATCCTCACAGCAACCTATTTTTCCGATAAGAAATCTGAGGCTTGATTGATAAGCTGACTTGACTAAGTTCACACAGTTTGTAAAAGCTAGAGTCTGTGCCTTAATTCACATAATCTCTATTCAGAGCCTGTACTGTTAACCACTCAAGGATTCTGGAACAGAAGCTAACAGTTTTCTGCAACGAGTCTTTGACTTAAACATCTGAAATAACATTGGAAATAGATTATAAGAGGAGTCAGTGTGTTTTTCTATAGTTTCAAAATACTTTTAACATCTTATTGTCAAAAAGATTGGATAACTGACTTTCTTTGCTCATAATAACTCTAAATTCTAGTTCCTGAGTACATTAACACATCTTCTTTACCTAACTACCAATGTCCCCCATCATCGACTTATCAGCTTGTTTGAGACAATGAGAAAGACTGATTTTATTTTCAAGAATATAGACTCTTGGTTCAAAACATTTTCAGGAAAAATATTTTAAAACCCTACAGTTGAACAGGTGTGTTTCCGTGTTGATGATGTGCTCAGGATACAAAGGTGAAATAAACATTTTTTCTGCCTTCAGGAAGCCCTCAATCTAGAAGAGTAGAGGTCCAAAGGTGCCATATGTTCACACTGTGAGCCTGCAAGATCTCCACGTTAACAAAGGAAAACTCTTCCTATGAATCTTCATGATGATAGGCCATGTCTCTTCTTATTTTTGTTTTAAATAAACATCCACCTTATCATG)$ . 05BR003 ENSG00000242265.5 ENSG00000227646.7 +/+ -/+ chr7:94665139 chr7:90153799 CDS intron duplication/5'-5' 144 89 6 613 188 high out-of-frame . Domain_of_unknown_function_(DUF4939)(100%)| . . ENSG00000242265.5 ENSG00000227646.7 ENST00000617526.4 . downstream upstream duplicates(34),mismatches(21) ^(CATCCTTCCTGTCTTCGCAGAGGAGTCCTCGCGTG___AAATAAGCGGGTTTTGAAAACAAAAAAAAGAAGGAGTGGAAGAGGGGGCCAGGATCCAGGCCTCCATCCCCACAGAAGTGAAGCTACAGCTGGGAGGTCTCCTCCCACCCCAACCGTCACCCTGGGTCCCGACTGCCCACCTCCTCCTCCTCCCCCTCCCCCCAACAACAACAACAACAACAACTCCAAGCACACCGGCCATAAGAGTGCGTGTGTCCCCAACATGACCGAACGAAGAAGGGACGAGCTCTCTGAAGAGATCAACAACTTAAGAGAGAAGGTCATGAAGCAGTCGGAGGAGAACAACAACCTGCAGAGCCAGGTGCAGAAGCTCACAGAGGAGAACACCACCCTTCGAGAGCAAGTGGAACCCACCCCTGAGGATGAGGATGATGACATCGAGCTCCGCGGTGCTGCAGCAGCTGCTGCCCCACCCCCTCCAATAGAGGAAGAGTGCCCAGAAGACCTCCCAGAGAAGTTCGATGGCAACCCAGACATGCTGGCTCCTTTCATGGCCCAGTGCCAGATCTTCATGGAAAAGAGCACCAGGGATTTCTCAGTTGATCGTGTCCGTGTCTGCTTCGTGACAAGCATGATGACCGGCCGTGCTGCCCGTTGGGCCTCAGCAAAGCTGGAGCGCTCCCACTACCTGATGCACAACTACCCAGCTTTCATGATGGAAATGAAGCATGTCTTTGAAGACCCTCAGAGGCGAGAGGTTGCCAAACGCAAGATCAGACGCCTGCGCCAAGGCATGGGGTCTGTCATCGACTACTCCAATGCTTTCCAGATGATTGCCCAGGACCTGGATTGGAACGAGCCTGCGCTGATTGACCAGTACCACGAGGGCCTCAGCGACCACATTCAGGAGGAGCTCTCCCACCTCGAGGTCGCCAAGTCGCTGTCTGCTCTGATTGGGCAGTGCATTCACATTGAGAGAAGGCTGGCCAGGGCTGCTGCAGCTCGCAAGCCACGCTCGCCACCCCGGGCGCTGGTGTTGCCTCACATTGCAAGCCACCACCAGGTAGATCCAACCGAGCCGGTGGGAGGTGCCCGCATGCGCCTGACGCAGGAAGAAAAAGAAAGACGCAGAAAGCTGAACCTGTGCCTCTACTGTGGAACAGGAGGTCACTACGCTGACAATTGTCCTGCCAAGGCCTCAAAGTCTTCGCCG___GGGAAACTCCCCGGCCCCGCTGTAGAGGGACCTTCAGCGACCGGGCCAGAAATAATAAGGTCCCCACAAGATGATGCCTCATCTCCACACTTGCAAGTGATGCTCCAGATTCATCTTCCGGGCAGACACACCCTGTTCGTCCGAGCCATGATCGATTCTGGTGCTTCTGGCAACTTCATTGATCACGAATATGTTGCTCAAAATGGAATTCCTCTAAGAATCAAGGACTGGCCAATACTTGTGGAAGCAATTGATGGGCGCCCCATAGCATCGGGCCCAGTTGTCCACGAAACTCACGACCTGATA)GTTGACCTGGGAGATCACCGAGAGGTGCTGTCATTTGATGTGACTCAGTCTCCATTCTTCCCTGTCGTCCTAGGGGTTCGCTGGCTGAGCACACATGATCCCAATATCACATGGAGCACTCGATCTATCGTCTTTGATTCTGAATACTGCCGCTACCACTGCCGGATGTATTCTCCAATACCACCATCGCTCCCACCACCAGCACCACAACCGCCACTCTATTATCCAGTAGATGGATACAGAGTTTACCAACCAGTGAGGTATTACTATGTCCAGAATGTGTACACTCCAGTAGATGAGCACGTCTACCCAGATCACCGCtgG|CTGAAAATACAAAAATTAGCCGGGCACAGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGGCTGGAGGTTGCAGTGAGCCAAGATCGCGCCACCGCACTCCAGCCTGGGCAACAGACTGAGACTCCGTCTCAAAAAAAATAAAAATAAAATAAAAATAAATAAGCTAACGTGTGGGAGGGTTTGTAAGCTCTAAACGGTCTATCTCAAAGTGTGATCTGGGAATGCTTCCATATCTCATGGGAACTTGTTACAAATGAGAATCTCAGACCCCATCCCAGACATACTGAACCGGAAACTGTGGGCGGACAGCCCAACAATCGGTGTTTTAATAAGCCCCCGGGTAATCTTATACACGCTAtAGTCTGAGAACCACTGC MTERRRDELSEEINNLREKVMKQSEENNNLQSQVQKLTEENTTLREQVEPTPEDEDDDIELRGAAAAAAPPPPIEEECPEDLPEKFDGNPDMLAPFMAQCQIFMEKSTRDFSVDRVRVCFVTSMMTGRAARWASAKLERSHYLMHNYPAFMMEMKHVFEDPQRREVAKRKIRRLRQGMGSVIDYSNAFQMIAQDLDWNEPALIDQYHEGLSDHIQEELSHLEVAKSLSALIGQCIHIERRLARAAAARKPRSPPRALVLPHIASHHQVDPTEPVGGARMRLTQEEKERRRKLNLCLYCGTGGHYADNCPAKASKSSPGKLPGPAVEGPSATGPEIIRSPQDDASSPHLQVMLQIHLPGRHTLFVRAMIDSGASGNFIDHEYVAQNGIPLRIKDWPILVEAIDGRPIASGPVVHETHDLIVDLGDHREVLSFDVTQSPFFPVVLGVRWLSTHDPNITWSTRSIVFDSEYCRYHCRMYSPIPPSLPPPAPQPPLYYPVDGYRVYQPVRYYYVQNVYTPVDEHVYPDHRw|lkiqklaghsgrrl* 05BR003 ENSG00000242265.5 ENSG00000164647.9 +/+ +/+ chr7:94665075 chr7:90159758 CDS 5'UTR/splice-site duplication 14 81 8 1092 825 high in-frame . Domain_of_unknown_function_(DUF4939)(100%)| . . ENSG00000242265.5 ENSG00000164647.9 ENST00000617526.4 ENST00000297205.7 downstream upstream duplicates(5),low_entropy(1),mismatches(2) ^(CATCCTTCCTGTCTTCGCAGAGGAGTCCTCGCGTG___AAATAAGCGGGTTTTGAAAACAAAAAAAAGAAGGAGTGGAAGAGGGGGCCAGGATCCAGGCCTCCATCCCCACAGAAGTGAAGCTACAGCTGGGAGGTCTCCTCCCACCCCAACCGTCACCCTGGGTCCCGACTGCCCACCTCCTCCTCCTCCCCCTCCCCCCAACAACAACAACAACAACAACTCCAAGCACACCGGCCATAAGAGTGCGTGTGTCCCCAACATGACCGAACGAAGAAGGGACGAGCTCTCTGAAGAGATCAACAACTTAAGAGAGAAGGTCATGAAGCAGTCGGAGGAGAACAACAACCTGCAGAGCCAGGTGCAGAAGCTCACAGAGGAGAACACCACCCTTCGAGAGCAAGTGGAACCCACCCCTGAGGATGAGGATGATGACATCGAGCTCCGCGGTGCTGCAGCAGCTGCTGCCCCACCCCCTCCAATAGAGGAAGAGTGCCCAGAAGACCTCCCAGAGAAGTTCGATGGCAACCCAGACATGCTGGCTCCTTTCATGGCCCAGTGCCAGATCTTCATGGAAAAGAGCACCAGGGATTTCTCAGTTGATCGTGTCCGTGTCTGCTTCGTGACAAGCATGATGACCGGCCGTGCTGCCCGTTGGGCCTCAGCAAAGCTGGAGCGCTCCCACTACCTGATGCACAACTACCCAGCTTTCATGATGGAAATGAAGCATGTCTTTGAAGACCCTCAGAGGCGAGAGGTTGCCAAACGCAAGATCAGACGCCTGCGCCAAGGCATGGGGTCTGTCATCGACTACTCCAATGCTTTCCAGATGATTGCCCAGGACCTGGATTGGAACGAGCCTGCGCTGATTGACCAGTACCACGAGGGCCTCAGCGACCACATTCAGGAGGAGCTCTCCCACCTCGAGGTCGCCAAGTCGCTGTCTGCTCTGATTGGGCAGTGCATTCACATTGAGAGAAGGCTGGCCAGGGCTGCTGCAGCTCGCAAGCCACGCTCGCCACCCCGGGCGCTGGTGTTGCCTCACATTGCAAGCCACCACCAGGTAGATCCAACCGAGCCGGTGGGAGGTGCCCGCATGCGCCTGACGCAGGAAGAAAAAGAAAGACGCAGAAAGCTGAACCTGTGCCTCTACTGTGGAACAGGAGGTCACTACGCTGACAATTGTCCTGCCAAGGCCTCAAAGTCTTCGCCG___GGGAAACTCCCCGGCCCCGCTGTAGAGGGACCTTCAGCGACCGGGCCAGAAATAATAAGGTCCCCACAAGATGATGCCTCATCTCCACACTTGCAAGTGATGCTCCAGATTCATCTTCCGGGCAGACACACCCTGTTCGTCCGAGCCATGATCGATTCTGGTGCTTCTGGCAACTTCATTGATCACGAATATGTTGCTCAAAATGGAATTCCTCTAAGAATCAAGGACTGGCCAATACTTGTGGAAGCAATTGATGGGCGCCCCATAGCATCGGGCCCAGTTGTCCACGAAACTCACGACCTGATAGTTGACCTGGGAGATCACCGAGAGGTGCTGTC)ATTTGATGTGACTCAGTCTCCATTCTTCCCTGTCGTCCTAGGGGTTCGCTGGCTGAGCACACATGATCCCAATATCACATGGAGCACTCGATCTATCGTCTTTGATTCTGAATACTGCCGCTACCACTGCCGGATGTATTCTCCAATACCACCATCGCTCCCACCACCAGCACCACAACCGCCACTCTATTATCCAGTAGATGGATACAGAGTTTACCAACCAGTGAG|GTGGCTGAAGCCATACTATTTTATAGAATTAATGGAAAGCAGAAAAGACATCACAAACCAAGAAGAACTTTGGAAAATGAAGCCTAGGAGAAATTTAGAAGAAGACGATTATTTG___CATAAGGACACGGGAGAGACCAGCATGCTAAAAAGACCTGTGCTTTTGCATTTGCACCAAACAGCCCATGCTGATGAATTTGACTGCCCTTCAGAACTTCAGCACACACAGGAACTCTTTCCACAGTGGCA(CTTGCCAATTAAAATAGCTGCTATTATAGCATCTCTGACTTTTCTTTACACTCTTCTGAGGGAAGTAATTCACCCTTTAGCAACTTCCCATCAACAATATTTTTATAAAATTCCAATCCTGGTCATCAACAAAGTCTTGCCAATGGTTTCCATCACTCTCTTGGCATTGGTTTACCTGCCAGGTGTGATAGCAGCAATTGTCCAACTTCATAATGGAACCAAGTATAAGAAGTTTCCACATTGGTTGGATAAGTGGATGTTAACAAGAAAGCAGTTTGGGCTTCTCAGTTTCTTTTTTGCTGTACTGCATGCAATTTATAGTCTGTCTTACCCAATGAGGCGATCCTACAGATACAAGTTGCTAAACTGGGCATATCAACAG___GTCCAACAAAATAAAGAAGATGCCTGGATTGAGCATGATGTTTGGAGAATGGAGATTTATGTGTCTCTGGGAATTGTGGGATTGGCAATACTGGCTCTGTTGGCTGTGACATCTATTCCATCTGTGAGTGACTCTTTGACATGGAGAGAATTTCACTATATTCAG___AGCAAGCTAGGAATTGTTTCCCTTCTACTGGGCACAATACACGCATTGATTTTTGCCTGGAATAAGTGGATAGATATAAAACAATTTGTATGGTATACACCTCCAACTTTTATGATAGCTGTTTTCCTTCCAATTGTTGTCCTGATATTTAAAAGCATACTATTCCTGCCATGCTTGAGGAAGAAGATACTGAAGATTAGACATGGTTGGGAAGACGTCACCAAAATTAACAAAACTGAGATATGTTCCCAGTTGTAGAATTACTGTTTACACACATTTTTGTTCAATATTGATATATTTTATCACCAACATTTCAAGTTTGTATTTGTTAATAAAATGATTATTCAAGGA)$ MTERRRDELSEEINNLREKVMKQSEENNNLQSQVQKLTEENTTLREQVEPTPEDEDDDIELRGAAAAAAPPPPIEEECPEDLPEKFDGNPDMLAPFMAQCQIFMEKSTRDFSVDRVRVCFVTSMMTGRAARWASAKLERSHYLMHNYPAFMMEMKHVFEDPQRREVAKRKIRRLRQGMGSVIDYSNAFQMIAQDLDWNEPALIDQYHEGLSDHIQEELSHLEVAKSLSALIGQCIHIERRLARAAAARKPRSPPRALVLPHIASHHQVDPTEPVGGARMRLTQEEKERRRKLNLCLYCGTGGHYADNCPAKASKSSPGKLPGPAVEGPSATGPEIIRSPQDDASSPHLQVMLQIHLPGRHTLFVRAMIDSGASGNFIDHEYVAQNGIPLRIKDWPILVEAIDGRPIASGPVVHETHDLIVDLGDHREVLSFDVTQSPFFPVVLGVRWLSTHDPNITWSTRSIVFDSEYCRYHCRMYSPIPPSLPPPAPQPPLYYPVDGYRVYQPVr|wlkpyyfielMESRKDITNQEELWKMKPRRNLEEDDYLHKDTGETSMLKRPVLLHLHQTAHADEFDCPSELQHTQELFPQWHLPIKIAAIIASLTFLYTLLREVIHPLATSHQQYFYKIPILVINKVLPMVSITLLALVYLPGVIAAIVQLHNGTKYKKFPHWLDKWMLTRKQFGLLSFFFAVLHAIYSLSYPMRRSYRYKLLNWAYQQVQQNKEDAWIEHDVWRMEIYVSLGIVGLAILALLAVTSIPSVSDSLTWREFHYIQSKLGIVSLLLGTIHALIFAWNKWIDIKQFVWYTPPTFMIAVFLPIVVLIFKSILFLPCLRKKILKIRHGWEDVTKINKTEICSQL* 05BR003 ENSG00000242265.5 ENSG00000164647.9 +/+ +/+ chr7:94656580 chr7:90159758 5'UTR/splice-site 5'UTR/splice-site duplication 18 34 4 525 825 high . . . . . ENSG00000242265.5 ENSG00000164647.9 ENST00000482108.1 ENST00000297205.7 downstream upstream duplicates(3),mismatches(1) ^(CTCCTCGGTGCAACCTATATAAGGCTCACAGTCTGCGCTCCTGGTACACGCGCTT)CAACTTCGGTTGGTGTGTGTCGAAGAAACCTGACTGCGCCCTGAGGAGAACAGCGGAGAAGGTCCACCGAGCCTGGCGAAAGGTCCGCTGAGCGGGCTGTCGTCCGGAGCCACTCCGGGCTGCGGAGCACCCAGTGGAGACCGCGCCTGGCTCAGGTGTGGGACCCCATCCTTCCTGTCTTCGCAGAGGAGTCCTCGCGTG|GTGGCTGAAGCCATACTATTTTATAGAATTAATGGAAAGCAGAAAAGACATCACAAACCAAGAAGAACTTTGGAAAATGAAGCCTAGGAGAAATTTAGAAGAAGACGATTATTTG___CATAAGGACACGGGAGAGACCAGCATGCTAAAAAGACCTGTGCTTTTGCATTTGCACCAAACAGCCCATGCTGATGAATTTGACTGCCCTTCAGAACTTCAGCACACACAGGAACTCTTTCCACAGTGGCACTTGCCAATTAAAAT(AGCTGCTATTATAGCATCTCTGACTTTTCTTTACACTCTTCTGAGGGAAGTAATTCACCCTTTAGCAACTTCCCATCAACAATATTTTTATAAAATTCCAATCCTGGTCATCAACAAAGTCTTGCCAATGGTTTCCATCACTCTCTTGGCATTGGTTTACCTGCCAGGTGTGATAGCAGCAATTGTCCAACTTCATAATGGAACCAAGTATAAGAAGTTTCCACATTGGTTGGATAAGTGGATGTTAACAAGAAAGCAGTTTGGGCTTCTCAGTTTCTTTTTTGCTGTACTGCATGCAATTTATAGTCTGTCTTACCCAATGAGGCGATCCTACAGATACAAGTTGCTAAACTGGGCATATCAACAG___GTCCAACAAAATAAAGAAGATGCCTGGATTGAGCATGATGTTTGGAGAATGGAGATTTATGTGTCTCTGGGAATTGTGGGATTGGCAATACTGGCTCTGTTGGCTGTGACATCTATTCCATCTGTGAGTGACTCTTTGACATGGAGAGAATTTCACTATATTCAG___AGCAAGCTAGGAATTGTTTCCCTTCTACTGGGCACAATACACGCATTGATTTTTGCCTGGAATAAGTGGATAGATATAAAACAATTTGTATGGTATACACCTCCAACTTTTATGATAGCTGTTTTCCTTCCAATTGTTGTCCTGATATTTAAAAGCATACTATTCCTGCCATGCTTGAGGAAGAAGATACTGAAGATTAGACATGGTTGGGAAGACGTCACCAAAATTAACAAAACTGAGATATGTTCCCAGTTGTAGAATTACTGTTTACACACATTTTTGTTCAATATTGATATATTTTATCACCAACATTTCAAGTTTGTATTTGTTAATAAAATGATTATTCAAGGA)$ . 05BR003 ENSG00000242265.5 ENSG00000164647.9 +/+ +/+ chr7:94656591 chr7:90159758 CDS/splice-site 5'UTR/splice-site duplication 0 11 5 611 825 high in-frame . . . . ENSG00000242265.5 ENSG00000164647.9 ENST00000488574.5 ENST00000297205.7 downstream upstream . ^(ACACGCGCTTCAACTTCGGTTGGTGTG)TGTCGAAGAAACCTGACTGCGCCCTGAGGAGAACAGCGGAGAAGGTCCACCGAGCCTGGCGAAAGGTCCGCTGAGCGGGCTGTCGTCCGGAGCCACTCCGGGCTGCGGAGCACCCAGTGGAGACCGCGCCTGGCTCAGGTGTGGGACCCCATCCTTCCTGTCTTCGCAGAGGAGTCCTCGCGTGGTGAGTATGCG|GTGGCTGAAGCCATACTATTTTATAGAATTAATGGAAAGCAGAAAAGACATCACAAACCAAGAAGAACTTTGGAAAATGAAGCCTAGGAGAAATTTAGAAGAAGACGATTATTTG___CATAAGGACACGGGAGAGACCAGCATGCTAAAAAGACCTGTGCTTTTGCATTTGCACCAAACAGCCCATGCTGATGAATTTGACTGCCCTTCAGAACTTCAGCACACACAGGAACTCTTTC(CACAGTGGCACTTGCCAATTAAAATAGCTGCTATTATAGCATCTCTGACTTTTCTTTACACTCTTCTGAGGGAAGTAATTCACCCTTTAGCAACTTCCCATCAACAATATTTTTATAAAATTCCAATCCTGGTCATCAACAAAGTCTTGCCAATGGTTTCCATCACTCTCTTGGCATTGGTTTACCTGCCAGGTGTGATAGCAGCAATTGTCCAACTTCATAATGGAACCAAGTATAAGAAGTTTCCACATTGGTTGGATAAGTGGATGTTAACAAGAAAGCAGTTTGGGCTTCTCAGTTTCTTTTTTGCTGTACTGCATGCAATTTATAGTCTGTCTTACCCAATGAGGCGATCCTACAGATACAAGTTGCTAAACTGGGCATATCAACAG___GTCCAACAAAATAAAGAAGATGCCTGGATTGAGCATGATGTTTGGAGAATGGAGATTTATGTGTCTCTGGGAATTGTGGGATTGGCAATACTGGCTCTGTTGGCTGTGACATCTATTCCATCTGTGAGTGACTCTTTGACATGGAGAGAATTTCACTATATTCAG___AGCAAGCTAGGAATTGTTTCCCTTCTACTGGGCACAATACACGCATTGATTTTTGCCTGGAATAAGTGGATAGATATAAAACAATTTGTATGGTATACACCTCCAACTTTTATGATAGCTGTTTTCCTTCCAATTGTTGTCCTGATATTTAAAAGCATACTATTCCTGCCATGCTTGAGGAAGAAGATACTGAAGATTAGACATGGTTGGGAAGACGTCACCAAAATTAACAAAACTGAGATATGTTCCCAGTTGTAGAATTACTGTTTACACACATTTTTGTTCAATATTGATATATTTTATCACCAACATTTCAAGTTTGTATTTGTTAATAAAATGATTATTCAAGGA)$ Mr|wlkpyyfielMESRKDITNQEELWKMKPRRNLEEDDYLHKDTGETSMLKRPVLLHLHQTAHADEFDCPSELQHTQELFPQWHLPIKIAAIIASLTFLYTLLREVIHPLATSHQQYFYKIPILVINKVLPMVSITLLALVYLPGVIAAIVQLHNGTKYKKFPHWLDKWMLTRKQFGLLSFFFAVLHAIYSLSYPMRRSYRYKLLNWAYQQVQQNKEDAWIEHDVWRMEIYVSLGIVGLAILALLAVTSIPSVSDSLTWREFHYIQSKLGIVSLLLGTIHALIFAWNKWIDIKQFVWYTPPTFMIAVFLPIVVLIFKSILFLPCLRKKILKIRHGWEDVTKINKTEICSQL* 05BR003 ENSG00000001629.10 ENSG00000223665.1(183968),ENSG00000127989.14(43449) +/+ ./- chr7:92392292 chr7:91827480 CDS/splice-site intergenic inversion 27 17 0 167 44 high out-of-frame . Ankyrin_repeat(100%),IBR_domain__a_half_RING-finger_domain(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%)| . . ENSG00000001629.10 . ENST00000265742.8 . downstream downstream duplicates(4),mismatches(1) ^(GGGTCGGCGGCCGGGCTGCTGCCGTTCCTGCTCCTTTTCACTGGACCTGCAGTCTCTCAGGGGCTGGTGGCAGGCGACTAGGAGACTAGGGTGGTGGCGGTGGGGGTGCCAGCGGCTGAGCCGGAGCCGGAGCCGGAGGCGGGGGAGGGGAAGAGGGCGGCCGGGGCTGCGAGCGCGCAAGGCTGGAACATGAGCCGGGCTTGACCGCGAGGCGGAGGCAAGAGCCACCGCCCCCTCTTCCCCTCCCCCGAGTGAGGCGGCGCAGCGGCCGGAGAGGGATGGGGGGCGCCCACCCAGTCTGAGCCTCGCCGCGGGCGCCTTCGGCTCACGCAGCGCTTCCCGCGGGCCGCCAGTGCGCACCCTCGGCCACATCAGCCTCCGCCTGGCGGGTGCACCCGGGCCGGCGAGGAAGGGGCAACCGTCCGGGTGGGTGGGGCGGGCTGGGTACCTGAGGTCACCAGCTCGGCTGTAGAGGCAGGGGCGGCGGAGGCGGAACTGCGGAGTTGCTGGGTCCACCGACCCTTACCCTCAGCGAGAGAAGTAACC___AATGTGAAAGATGTTGCAGAAGTGTTCCAGAAGTGGCTGAAGATAGAAGGAAAAAAGTGCCACTGCCTATCAGAAAAAACAAAACAAAACATGGGAAATACAACCACCAAATTCCGTAAAGCACTCATCAATGGTGATGAAAACCTGGCCTGCCAAATATATGAAAACAATCCTCAGCTAAAAGAATCTCTTGATCCAAATACATCTTATGGGGAGCCCTACCAGCACAATACTCCATTACATTATGCTGCTAGACATGGAATGAATAAAATATTAGG___GACTTTTCTTGGTAGAGATGGAAATCCAAATAAACGGAATGTGCACAATGAAACATCTATGCATTTGTTGTGTATGGGACCTCAAATTATGATATCTGAAGGAGCCCTTCATCCTCGCTTGGCACGCCCCACAGAAGATGATTTCAGAAGAGCAGATTGTCTGCAGATGATCTTAAAATGGAAAGGAGCAAAACTTGACCAGGGTGAATATGAGAGAGCAGCTATTGATGCTGTTGATAACAAAAAAAACACACCCTTGCACTATGCTGCTGCCTCAGGGATGAAAGCCTGTGTAGAG___CTTTTAGTAAAACATGGAGGAGACTTGTTTGCTGAGAATGAAAATAAAGATACTCCTTGTGATTGTGCTGAAAAGCAACACCACAAAGATTTGGCCCTCAATCTGGAATCTCAAATGGTATTCTCACGGGATCCCGAGGCTGAAGAAATAGAAGCTGAATATGCTGCATTAGACAAACGAGAG___CCATATGAAGGATTAAGGCCTCAGGATCTTCGTAGACTAAAAGATATGCTTATTGTGGAAACTGCAGACATGCTTCAGGCTCCTCTCTTTACTGCTGAAGCTTTACTTCGAGCTCATG___ACTGGGACAGGGAGAAATTACTTGAAGCTTGGATGTCCAACCCGGAGAACTGCTGCCAACGATCAGGTGTTCAAATGCCAACTCCACCACCAAGTGGGTATAATGCCTGGGACACGCTCCCATCTCCAAGAACTCCAAGGACTACACGCTCTTCTGTCACCTCCCCAGATGAAATCAGCTTATCTCCTGGGGATTTAGACACCAGTTTG___TGTGACATTTGTATGTGCAGTATCTCTGTATTTGAAGACCCTGTGGATATGCCCTGTGGACATGACTTTTGTAGAGGATGTTGGGAGTC___GTTTTTGAATCTGAAAATTCAAGAAGGTGAAGCTCACAACATTTTTTGCCCTGCATATGATTGCTTCCAACTTGTACCTGTGGATATCATAGAAAGTGTAGTTTCAAAGGAGATGGACAAACGATACCTACAGTTTGATATTAAG___GCCTTTGTTGAAAATAATCCTGCCATTAAATGGTGTCCTACTCCAGGCTGTGACAGAGCAGTAAGACTAACGAAACAAGGGTCAAATACATCTGGATCTGATACACTCAGCTTCCCATTGCTGAGAGCTCCTGCTGTTGATTGTGGAAAAGGACACCTCTTCTGCTG___GGAGTGCCTTGGTGAAGCACATGAGCCTTGTGACTGCCAAACATGGAAGAATTGGCTGCAAAAAATAACCGAAATGAAACCAGAAGAAC___TTGTGGGAGTTAGTGAAGCCTACGAGGATGCCGCCAATTGTCTCTGGTTATTAACTAACTCCAAGCCTTGTGCCAACTGTAAGTCTCCAATACAGAAGAATGAAGGCTGCAATCACATGCAGTGTGCTAAG___TGCAAGTATGACTTTTGCTGGATTTGCCTTGAAGAGTGGAAAAAACATAGTTCGTCCACTGGAGGTTATTACAGATGTACTCGCTATGAAGTCATTCAACACGTGGAGGAGCAATCCAAGGAAATGACTGTGGAG___GCTGAGAAAAAACACAAACGATTTCAGGAACTTGACAGATTTATGCACTATTATACAAGATTTAAAAACCATGAGCATAGTTATCAG___CTAGAACAACGCCTTCTTAAAACAGCCAAAGAAAAGATGGAGCAATTGAGCAGAGCTCTCAAAGAAA___CTGAAGGAGGCTGTCCAGATACCACTTTCATTGAAGATGCAGTTCATGTGCTCTTAAAAACTCGGCGCATTCTCAAGTGTTCTTATCCATATGGATTTTTCTTGGAACCTAAAAGCACAAAGAAAGAAATTTTTGAACTAATGCAA___ACAGACCTAGAAAT)GGaCACTGAAGACCTTGCCCAGAAAGTCAATAGGCCTTACCTTCGCACACCCCGCCACAAGATCATCAAAGCAGCATGCCTTGTACAGCAGAAGAGGCAAGAATTCCTGGCATCTGTGGCTCGGGGAGTAGCTCCTGCAGACTCACCAGAAGCTCCAAGGCGCAG___CTTTGCTGGTGGAACATGGGATTGGGAATATTTAGGATTTGCATCACCAGAG|AGAGAACAACCTGACATAAACTAGCAAGCCAACAGGTGAAGTTTCGACACACCTCCTTTAATAAAG___GCCCATAAAAGCCCTGGATTCAGCCAGACGAGGATACAATGGGACGGCTAGCTGCG...___GTGTCAAAACTATTGTGCCTAGATAACCTGAAGACAAGAGCAG MGNTTTKFRKALINGDENLACQIYENNPQLKESLDPNTSYGEPYQHNTPLHYAARHGMNKILGTFLGRDGNPNKRNVHNETSMHLLCMGPQIMISEGALHPRLARPTEDDFRRADCLQMILKWKGAKLDQGEYERAAIDAVDNKKNTPLHYAAASGMKACVELLVKHGGDLFAENENKDTPCDCAEKQHHKDLALNLESQMVFSRDPEAEEIEAEYAALDKREPYEGLRPQDLRRLKDMLIVETADMLQAPLFTAEALLRAHDWDREKLLEAWMSNPENCCQRSGVQMPTPPPSGYNAWDTLPSPRTPRTTRSSVTSPDEISLSPGDLDTSLCDICMCSISVFEDPVDMPCGHDFCRGCWESFLNLKIQEGEAHNIFCPAYDCFQLVPVDIIESVVSKEMDKRYLQFDIKAFVENNPAIKWCPTPGCDRAVRLTKQGSNTSGSDTLSFPLLRAPAVDCGKGHLFCWECLGEAHEPCDCQTWKNWLQKITEMKPEELVGVSEAYEDAANCLWLLTNSKPCANCKSPIQKNEGCNHMQCAKCKYDFCWICLEEWKKHSSSTGGYYRCTRYEVIQHVEEQSKEMTVEAEKKHKRFQELDRFMHYYTRFKNHEHSYQLEQRLLKTAKEKMEQLSRALKETEGGCPDTTFIEDAVHVLLKTRRILKCSYPYGFFLEPKSTKKEIFELMQTDLEMdTEDLAQKVNRPYLRTPRHKIIKAACLVQQKRQEFLASVARGVAPADSPEAPRRSFAGGTWDWEYLGFASPE|reqpdin* 05BR003 ENSG00000160299.17 ENSG00000160299.17 +/+ +/- chr21:46339233 chr21:46445414 intron 3'UTR inversion/3'-3' 17 14 0 32 79 high . . . . . ENSG00000160299.17 ENSG00000160299.17 . . downstream downstream duplicates(1) GTTTTACCATGTTGGCCAGGCTGATCTCGAACTCATGATCTCAGGTGATCTGCTCACCTCGGCCTCCCAAAGTGCTGGGATTACTGGTGTGAACAACTGTGCCTGGCCTGTTTTTATTTCCCTTCT|GCTGTCCCACGAGCTTCCTTGGGAAAAGGGAAAAACAAATCTTTTCCTCAAATAGAATTGTCGCAGGAAAGAGCCATGACATTTTATTCACTGTTTAATCATCGGGTGGCAGGATTTCTTTGAAGTAGAATCTGCATATAAATAAAAATGAGGCAGCAAATTGGTTACAAGGCTTCACAGATTTTTTGAAAAGAATTCCA . 05BR003 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 18 8 1 151 70 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream mismatches(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCA)TGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCT...AGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAAGCCTCTATAGCTTGGCCTGTCTTCGTAGGAAACCCTGGCATCATATCTCAGCAAGGCTAGAGGGGACTCTCAGCTTCGCCTTGCCCTCCTCTTTCCTCACTGGTGTAATGCG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05BR003 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 24 0 34 161 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),mismappers(3),mismatches(1) GCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAAT(AGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05BR003 ENSG00000146540.15 ENSG00000271368.1(141044),ENSG00000237064.1(53817) -/- ./+ chr7:1127257 chr7:109905401 CDS/splice-site intergenic inversion 12 7 0 121 27 high out-of-frame . . . . ENSG00000146540.15 . ENST00000397100.6 . upstream upstream duplicates(1) ^(GCCGGAAGGCGGCG)TCCGCGACGCAGCTGTTCACGCTTAG___GATGGCAAAACAGAAGAGAAAAGTTCCTGAAGTGACAGAGAAAAAGAACAAAAAGCTGAAGAAGGCGTCAGCAGAGGGGCCACTGCTGGGCCCTGAGGCTGCACCAAGTGGCGAAGGAGCCGGCTCCAAG|CTTTACAGGTACTTTAAGAAAATATCGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCAGTCTACAGCTCCCAGCGTGAGCAACGCAGTCGACGGGTGATTTCTGCATTTCCATCTGAGGTACTGAGTTATTCTCACTAGGGAGTGCCAGACAGTGGGCGCAGGTCAGTGGGTACAGCGCATCcTGCGCGAGCCGAAGCAGGGCGAGGCATCACCTCACCCGGGAAGTGCAAG MAKQKRKVPEVTEKKNKKLKKASAEGPLLGPEAAPSGEGAGSK|lyryfkkisgeeprwpnrnssslqlpa* 05BR003 ENSG00000157224.16 ENSG00000226066.1(131639),ENSG00000231244.1(93915) +/+ ./- chr7:90405608 chr7:136619956 5'UTR/splice-site intergenic inversion 9 8 1 214 75 high . . . . . ENSG00000157224.16 . ENST00000287916.8 . downstream downstream inconsistently_clipped(1) ^(GCCATCCAGGGCATTGCCGTTCAGGGCCACGGGAAAACCTGACTGCGCTCC)CAGAAGCCTCCGGTGTACCTCGCTGGGAACGCACTTCCTGGGACGCTGAGAGGGAGACGCTCCAAGAGGCTCCTCAGTGTGGGCGAGTAAAATGCCCTGCGTGTGAGAAGCAG___GCTCAGATTATTGCTACTCTGTATTCAGATCTTCATGTGTCTCTTCTAAGCTGAATAAAGCTGTTTTGGAACTGTCAGGTACCTCAAAGC|GTCAGTTTCCCTGCACATGCTCTCTTGCCTGCCACCATGAAGACGTGACTTTGCTCCTCCTTCACCTTCTGTCACGATTGTGAGGCCTCCCCAGCCATGTGGAACT___GAGGCTGGATTTTAGGCTATACCATGACTTTGCAAGAGATCACTGCATTTTAACCCCTTTAGAAGAATTTCCCTTTGAGTCTTGG . 05BR003 ENSG00000285953.1 ENSG00000128513.16 -/- -/- chr7:92234449 chr7:124842963 CDS/splice-site CDS/splice-site duplication 10 7 1 130 51 high out-of-frame . . . . ENSG00000285953.1 ENSG00000128513.16 ENST00000650585.1 ENST00000393329.5 upstream downstream mismappers(2),mismatches(1) ^(AAGCGATTTCATAGCCACGGTAACGGCGGGGTGGAAAGCTAAGGCCTTTGAAGACCTGGGACCCCGTAGTTTCGGGAGAGGGTGAGGGGTGAATGGTGCTGAGGTGCGAGGAGAGGGAAGGACAGTAAAGAGCAG___CCTCACCAGAAGTCTTTCATCTCGGTGGTCCAACTCAGGATCTCAGCCTCATTATTTTCTTACCCTTCTGGAGTGCATATGTGCCTTTACAGTTTCTGTTTGCAAACGCTGTCTAGCATACTAAGAGGATGTTAGCAAACCTGTTCCATGGACACTAAATGGCAGTTGTACATCTCCCCTCATCAGTCATAGTGACAACCAGAAATGCCCTCCATATTTTCCAGTGATCCCAG___TCTTCAATGCGTCTGTCTCATAATTTGTAAACGTTTATTATCTTGAAGTCATTGTTAATCTGTGGTGAAAAGTAATTGCTAAATAGAAATTCTGAGAAGAAAAAGGCCTCATCCTTTTCACATGATGTAGGAAGGTCTGTTGCATGAG___CAATGGGAAATCCAGAAAACATAGAAGATGCATATGTTGCTGTTATTCGTCCAAAGAATACTGCCAGTCTCAATTCTCGGGAATACAGAGCTAAGTCATATGAA___ATTTTGTTGCATGAAGTTCCCATTGAAGGACAGAAAAAAAAGAGAAAGAAAGTTTTATTGGAAACGAAACTTCAAGGCAACAGTGAAATAACACAAGGCATATTGGATTACGTAGTAGAAACCACCAAACCAATTTCTCCTGCAAACCAGGGTATCAGAG___GAAAACGAGTTGTACTAATGAAAAAATTTCCTCTGGATGGAGAGAAGATGGGCAGAGAAGCATCATTATTTATTGTTCCATCAGTTGTCAAAG___ATAATACTAAATACACATATACCCCAGGATGCCCAATTTTTTACTGCTTACAAGATATTATGCGAGTCTGTAGTGAATCCAGTACTCATTTTGCTACACTTACAGCAAGGATGTTAATAGCCTTGGATAA___GTGGTTAGATGAACGTCATGCACAATCTCACTTTATTCCAGCTTTATTCCGACCTTCTCCTCTTGAGCGGATAAAAACTAATGTCATAAATCCTGCATATGCTACTGAATCAGGTCAGACAGAAAACTCACTACATATGGGCTATAGTGCACTAGAAATAAAGAGTAAAATGTTAGCCCTAGAGAAAGCAGATACCTGTATTTACAACCCTTTGTTTGGATCAGATCTTCAGTATACAAATCGG___GTAGATAAAGTGGTAATAAAT)CCATACTTTGGTCTAGGAGCTCCAGACTACTCAAAAATCCAAATACCTAAACAGGAAAAATGGCAGAGAAGCATGAGCAGTGTCACAGAAGACAA___GGAACGACAGTGGGTAGATGATTTTCCTCTCCACCGAAGCGCCTGTGAAGGAGATTCAGAATTACTAAGCCGTCTTCTCAGTGAAAGATTTTCAGTCAACCAGTTAGATAGTGACCACTGGGCACCCATTCATTATGCATGCTG|TACTTACAGATCATCAGTATTTGGAGAGGACACCACTATGTGCCATTTTGAAACAAAAAGCTCCTCAACAATACCGCATCCGAGCAAAATTGAGGTCATATAAGCCCAGAAGACTATTTCAGTCTGTTAAACTTCATTGCCCTAAATGTCATTTGCT___GCAAGAAGTTCCACATGAGGGCGATTTGGATATAATTTTTCAGGATGGTGCAACTAAAACCCCAGATGTCA(AGCTACAAAATACATCATTATATGATTCAAAAATCTGGACCACTAAAAATCAAAAAGGACGAAAAGTAGCAGTTCATTTTGTGAAAAATAATGGTATTCTCCCGCTTTCAAATGAATGTCTACTTTTGATAGAAG___GAGGTACACTCAGTGAAATTTGCAAACTCTCGAACAAGTTTAATAGTGTAATTCCTGTGAGATCTGGCCACGAAGACCTGGAACTTTTGGACCTTTCAGCACCATTTCTTATACAAGGAACAATACATCACTATGG___ATGTAAACAGTGTTCTAGTTTGAGATCCATACAAAATCTAAATTCCCTGGTTGATAAAACATCGTGGATTCCTTCTTCTGTGGCAGAAG___CACTGGGTATTGTACCCCTCCAATATGTGTTTGTTATGACCTTTACACTTGATGATGGAACAGGAGTACTAGAAGCCTATCTCATGGATTCT___GACAAATTCTTCCAGATTCCAGCATCAGAAGTTCTGATGGATGATGACCTTCAGAAAAGTGTGGATATGATCATGGATATGTTTTGTCCTCCAGGAATAAAAATTG___ATGCATATCCGTGGTTGGAATGCTTCATCAAGTCATACAATGTCACAAATGGAACAGATAATCAAATTTGCTATCAGATTTTTGACACCACAGTTGCAGAAGATGTAATCTAATATTGCCATCCAATTTAGCATACATAAAATGTTGCCACTCACCTTCCCTGTTTGAGCTTCTTTTCCTGACCTGAGTTTTGTATCAGCAATGTTGATGATGTTAGCATGGGTATGGGATTAGAAAATGTCCTTACCTTAAATCTCTTGGCTTTTACTGGGTGCAAGGTAAATAATGGCTATGGATTTTGTTTTGCTTTCTGTTTTGCTTTTGTACAAAGAGACCTGCTTAAACAAGTACTGCTGAGATAAGTGTCTGATCAAGCTACAGTGTACTTTAAGTAGAAATGGCAAAGTTGCTTTGTTGGGGTGCTGATACTGATGATTTTAGGATAAATTCATTTCTTTAAACTTGTAATACATGGTTTTATTGCTTGTTTCTCTCCAGGATAGTAGAGATTTCTCTATTTCACCTCAACCTAATAAAAGTGGTCAGATTTATAATGTTAATGACTTAATATTATCCTTTTCTAATAGTCTCATGTAAAATATGCCGCTATTACAACTTACAACTAATTGAATGAGATGTTAACTTAGTAAAATAGTTTGATTTTTACCTGACAGTGTTTGTCAAATTTAAAATCATGAATATTCAATTTTATACAAACATTTATATATATATATATAGATTTGTGTATGTTATTTGCCAAAGACAGATATAAATTACCTGGTTTAATATTAGTGAAGAATAAATAAGTGCACACATTTCAACTGTTTCATTTATTTGCCCTAAGTTGAGCTGAAAAATGATATGAGGCAAAGAATCGAAATAGGTGTGGCAATGCAGCAGATGTTTAGGGCTGTCTACATCCCAGGTACTGTGCTAAGCACTAAACATGTATTTGATCCTCACAGCAACCTATTTTTCCGATAAGAAATCTGAGGCTTGATTGATAAGCTGACTTGACTAAGTTCACACAGTTTGTAAAAGCTAGAGTCTGTGCCTTAATTCACATAATCTCTATTCAGAGCCTGTACTGTTAACCACTCAAGGATTCTGGAACAGAAGCTAACAGTTTTCTGCAACGAGTCTTTGACTTAAACATCTGAAATAACATTGGAAATAGATTATAAGAGGAGTCAGTGTGTTTTTCTATAGTTTCAAAATACTTTTAACATCTTATTGTCAAAAAGATTGGATAACTGACTTTCTTTGCTCATAATAACTCTAAATTCTAGTTCCTGAGTACATTAACACATCTTCTTTACCTAACTACCAATGTCCCCCATCATCGACTTATCAGCTTGTTTGAGACAATGAGAAAGACTGATTTTATTTTCAAGAATATAGACTCTTGGTTCAAAACATTTTCAGGAAAAATATTTTAAAACCCTACAGTTGAACAGGTGTGTTTCCGTGTTGATGATGTGCTCAGGATACAAAGGTGAAATAAACATTTTTTCTGCCTTCAGGAAGCCCTCAATCTAGAAGAGTAGAGGTCCAAAGGTGCCATATGTTCACACTGTGAGCCTGCAAGATCTCCACGTTAACAAAGGAAAACTCTTCCTATGAATCTTCATGATGATAGGCCATGTCTCTTCTTATTTTTGTTTTAAATAAACATCCACCTTATCATG)$ MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGDSELLSRLLSERFSVNQLDSDHWAPIHYACc|tyrssvfgedttmchfetkssstiphpskievi* 05BR003 ENSG00000285953.1 ENSG00000128513.16 -/- -/- chr7:92234808 chr7:124842963 CDS/splice-site CDS/splice-site duplication 1 0 1 170 51 medium out-of-frame . . . . ENSG00000285953.1 ENSG00000128513.16 ENST00000650585.1 ENST00000393329.5 upstream downstream . ^(AAGCGATTTCATAGCCACGGTAACGGCGGGGTGGAAAGCTAAGGCCTTTGAAGACCTGGGACCCCGTAGTTTCGGGAGAGGGTGAGGGGTGAATGGTGCTGAGGTGCGAGGAGAGGGAAGGACAGTAAAGAGCAG___CCTCACCAGAAGTCTTTCATCTCGGTGGTCCAACTCAGGATCTCAGCCTCATTATTTTCTTACCCTTCTGGAGTGCATATGTGCCTTTACAGTTTCTGTTTGCAAACGCTGTCTAGCATACTAAGAGGATGTTAGCAAACCTGTTCCATGGACACTAAATGGCAGTTGTACATCTCCCCTCATCAGTCATAGTGACAACCAGAAATGCCCTCCATATTTTCCAGTGATCCCAG___TCTTCAATGCGTCTGTCTCATAATTTGTAAACGTTTATTATCTTGAAGTCATTGTTAATCTGTGGTGAAAAGTAATTGCTAAATAGAAATTCTGAGAAGAAAAAGGCCTCATCCTTTTCACATGATGTAGGAAGGTCTGTTGCATGAG___CAATGGGAAATCCAGAAAACATAGAAGATGCATATGTTGCTGTTATTCGTCCAAAGAATACTGCCAGTCTCAATTCTCGGGAATACAGAGCTAAGTCATATGAA___ATTTTGTTGCATGAAGTTCCCATTGAAGGACAGAAAAAAAAGAGAAAGAAAGTTTTATTGGAAACGAAACTTCAAGGCAACAGTGAAATAACACAAGGCATATTGGATTACGTAGTAGAAACCACCAAACCAATTTCTCCTGCAAACCAGGGTATCAGAG___GAAAACGAGTTGTACTAATGAAAAAATTTCCTCTGGATGGAGAGAAGATGGGCAGAGAAGCATCATTATTTATTGTTCCATCAGTTGTCAAAG___ATAATACTAAATACACATATACCCCAGGATGCCCAATTTTTTACTGCTTACAAGATATTATGCGAGTCTGTAGTGAATCCAGTACTCATTTTGCTACACTTACAGCAAGGATGTTAATAGCCTTGGATAA___GTGGTTAGATGAACGTCATGCACAATCTCACTTTATTCCAGCTTTATTCCGACCTTCTCCTCTTGAGCGGATAAAAACTAATGTCATAAATCCTGCATATGCTACTGAATCAGGTCAGACAGAAAACTCACTACATATGGGCTATAGTGCACTAGAAATAAAGAGTAAAATGTTAGCCCTAGAG)AAAGCAGATACCTGTATTTACAACCCTTTGTTTGGATCAGATCTTCAGTATACAAATCGG___GTAGATAAAGTGGTAATAAATCCATACTTTGGTCTAGGAGCTCCAGACTACTCAAAAATCCAAATACCTAAACAGGAAAAATGGCAGAGAAGCATGAGCAGTGTCACAGAAGACAA|TACTTACAGATCATCAGTATTTGGAGAGGACACCACTATGTGCCATTTTGAAACAAAAAGCTCCTCAACAATACCGCATCCGAGCAAAATTGAGGTCATATAAGCCCAGAAGACTATTTCAGTCTGTTAAACTTCATTGCCCTAAATGTCATTTGCT___GCAAG(AAGTTCCACATGAGGGCGATTTGGATATAATTTTTCAGGATGGTGCAACTAAAACCCCAGATGTCAAGCTACAAAATACATCATTATATGATTCAAAAATCTGGACCACTAAAAATCAAAAAGGACGAAAAGTAGCAGTTCATTTTGTGAAAAATAATGGTATTCTCCCGCTTTCAAATGAATGTCTACTTTTGATAGAAG___GAGGTACACTCAGTGAAATTTGCAAACTCTCGAACAAGTTTAATAGTGTAATTCCTGTGAGATCTGGCCACGAAGACCTGGAACTTTTGGACCTTTCAGCACCATTTCTTATACAAGGAACAATACATCACTATGG___ATGTAAACAGTGTTCTAGTTTGAGATCCATACAAAATCTAAATTCCCTGGTTGATAAAACATCGTGGATTCCTTCTTCTGTGGCAGAAG___CACTGGGTATTGTACCCCTCCAATATGTGTTTGTTATGACCTTTACACTTGATGATGGAACAGGAGTACTAGAAGCCTATCTCATGGATTCT___GACAAATTCTTCCAGATTCCAGCATCAGAAGTTCTGATGGATGATGACCTTCAGAAAAGTGTGGATATGATCATGGATATGTTTTGTCCTCCAGGAATAAAAATTG___ATGCATATCCGTGGTTGGAATGCTTCATCAAGTCATACAATGTCACAAATGGAACAGATAATCAAATTTGCTATCAGATTTTTGACACCACAGTTGCAGAAGATGTAATCTAATATTGCCATCCAATTTAGCATACATAAAATGTTGCCACTCACCTTCCCTGTTTGAGCTTCTTTTCCTGACCTGAGTTTTGTATCAGCAATGTTGATGATGTTAGCATGGGTATGGGATTAGAAAATGTCCTTACCTTAAATCTCTTGGCTTTTACTGGGTGCAAGGTAAATAATGGCTATGGATTTTGTTTTGCTTTCTGTTTTGCTTTTGTACAAAGAGACCTGCTTAAACAAGTACTGCTGAGATAAGTGTCTGATCAAGCTACAGTGTACTTTAAGTAGAAATGGCAAAGTTGCTTTGTTGGGGTGCTGATACTGATGATTTTAGGATAAATTCATTTCTTTAAACTTGTAATACATGGTTTTATTGCTTGTTTCTCTCCAGGATAGTAGAGATTTCTCTATTTCACCTCAACCTAATAAAAGTGGTCAGATTTATAATGTTAATGACTTAATATTATCCTTTTCTAATAGTCTCATGTAAAATATGCCGCTATTACAACTTACAACTAATTGAATGAGATGTTAACTTAGTAAAATAGTTTGATTTTTACCTGACAGTGTTTGTCAAATTTAAAATCATGAATATTCAATTTTATACAAACATTTATATATATATATATAGATTTGTGTATGTTATTTGCCAAAGACAGATATAAATTACCTGGTTTAATATTAGTGAAGAATAAATAAGTGCACACATTTCAACTGTTTCATTTATTTGCCCTAAGTTGAGCTGAAAAATGATATGAGGCAAAGAATCGAAATAGGTGTGGCAATGCAGCAGATGTTTAGGGCTGTCTACATCCCAGGTACTGTGCTAAGCACTAAACATGTATTTGATCCTCACAGCAACCTATTTTTCCGATAAGAAATCTGAGGCTTGATTGATAAGCTGACTTGACTAAGTTCACACAGTTTGTAAAAGCTAGAGTCTGTGCCTTAATTCACATAATCTCTATTCAGAGCCTGTACTGTTAACCACTCAAGGATTCTGGAACAGAAGCTAACAGTTTTCTGCAACGAGTCTTTGACTTAAACATCTGAAATAACATTGGAAATAGATTATAAGAGGAGTCAGTGTGTTTTTCTATAGTTTCAAAATACTTTTAACATCTTATTGTCAAAAAGATTGGATAACTGACTTTCTTTGCTCATAATAACTCTAAATTCTAGTTCCTGAGTACATTAACACATCTTCTTTACCTAACTACCAATGTCCCCCATCATCGACTTATCAGCTTGTTTGAGACAATGAGAAAGACTGATTTTATTTTCAAGAATATAGACTCTTGGTTCAAAACATTTTCAGGAAAAATATTTTAAAACCCTACAGTTGAACAGGTGTGTTTCCGTGTTGATGATGTGCTCAGGATACAAAGGTGAAATAAACATTTTTTCTGCCTTCAGGAAGCCCTCAATCTAGAAGAGTAGAGGTCCAAAGGTGCCATATGTTCACACTGTGAGCCTGCAAGATCTCCACGTTAACAAAGGAAAACTCTTCCTATGAATCTTCATGATGATAGGCCATGTCTCTTCTTATTTTTGTTTTAAATAAACATCCACCTTATCATG)$ MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDn|tyrssvfgedttmchfetkssstiphpskievi* 05BR003 ENSG00000001631.15 ENSG00000128513.16 -/- -/- chr7:92234449 chr7:124842963 CDS/splice-site CDS/splice-site duplication 10 7 1 130 51 high out-of-frame . NUDIX__or_N-terminal_NPxY_motif-rich___region_of_KRIT(100%)| . . ENSG00000001631.15 ENSG00000128513.16 ENST00000394507.5 ENST00000393329.5 upstream downstream mismappers(2),mismatches(1) ^(GCTCCGGCTCAGCCGCTGGCACCCCCACCGCCACCACCCTAGTCTCCTAGTCGCCTGCCACCAGCCCCTGAGAGACTGCAGGTCCAGTGAAAAGGAGCAGGAACGGCAGCAGCCCGGCCGCCGACCCGGAAGCTCTTTCACCGCCAACCGCGAGGCTGCAAAGGGTGTGAACCCGGAAGCGATTTCATAGCCACG___GTGACTGTCCCACCCATTTAGTTGAATGTAGCGGCCAGAGAGGCACTCGCGGCAGCCCGTACGGGTGGGACCTCTCGGTGTCCTTCGGGAAACAGGAGGAGCAAGTTCGACTCCAGCGAGGGAAAACGGAGGTGGGAGACTGAACCATCTCCACATCTAGTTGCCCCAG___GTTTTTGGCTTTCATCGCTTTTTCTACATGTTTTTAGCCTCACCAGAAGTCTTTCATCTCGGTGGTCCAACTCAGGATCTCAGCCTCATTATTTTCTTACCCTTCTGGAGTGCATATGTGCCTTTACAGTTTCTGTTTGCAAACGCTGTCTAGCATACTAAGAGGATGTTAGCAAACCTGTTCCATGGACACTAAATGGCAGTTGTACATCTCCCCTCATCAGTCATAGTGACAACCAGAAATGCCCTCCATATTTTCCAGTGATCCCAG___TCTTCAATGCGTCTGTCTCATAATTTGTAAACGTTTATTATCTTGAAGTCATTGTTAATCTGTGGTGAAAAGTAATTGCTAAATAGAAATTCTGAGAAGAAAAAGGCCTCATCCTTTTCACATGATGTAGGAAGGTCTGTTGCATGAG___CAATGGGAAATCCAGAAAACATAGAAGATGCATATGTTGCTGTTATTCGTCCAAAGAATACTGCCAGTCTCAATTCTCGGGAATACAGAGCTAAGTCATATGAA___ATTTTGTTGCATGAAGTTCCCATTGAAGGACAGAAAAAAAAGAGAAAGAAAGTTTTATTGGAAACGAAACTTCAAGGCAACAGTGAAATAACACAAGGCATATTGGATTACGTAGTAGAAACCACCAAACCAATTTCTCCTGCAAACCAGGGTATCAGAG___GAAAACGAGTTGTACTAATGAAAAAATTTCCTCTGGATGGAGAGAAGATGGGCAGAGAAGCATCATTATTTATTGTTCCATCAGTTGTCAAAG___ATAATACTAAATACACATATACCCCAGGATGCCCAATTTTTTACTGCTTACAAGATATTATGCGAGTCTGTAGTGAATCCAGTACTCATTTTGCTACACTTACAGCAAGGATGTTAATAGCCTTGGATAA___GTGGTTAGATGAACGTCATGCACAATCTCACTTTATTCCAGCTTTATTCCGACCTTCTCCTCTTGAGCGGATAAAAACTAATGTCATAAATCCTGCATATGCTACTGAATCAGGTCAGACAGAAAACTCACTACATATGGGCTATAGTGCACTAGAAATAAAGAGTAAAATGTTAGCCCTAGAGAAAGCAGATACCTGTATTTACAACCCTTTGTTTGGATCAGATCTTCAGTATACAAATCGG___GTAGATAAAGTGGTAATAAAT)CCATACTTTGGTCTAGGAGCTCCAGACTACTCAAAAATCCAAATACCTAAACAGGAAAAATGGCAGAGAAGCATGAGCAGTGTCACAGAAGACAA___GGAACGACAGTGGGTAGATGATTTTCCTCTCCACCGAAGCGCCTGTGAAGGAGATTCAGAATTACTAAGCCGTCTTCTCAGTGAAAGATTTTCAGTCAACCAGTTAGATAGTGACCACTGGGCACCCATTCATTATGCATGCTG|TACTTACAGATCATCAGTATTTGGAGAGGACACCACTATGTGCCATTTTGAAACAAAAAGCTCCTCAACAATACCGCATCCGAGCAAAATTGAGGTCATATAAGCCCAGAAGACTATTTCAGTCTGTTAAACTTCATTGCCCTAAATGTCATTTGCT___GCAAGAAGTTCCACATGAGGGCGATTTGGATATAATTTTTCAGGATGGTGCAACTAAAACCCCAGATGTCA(AGCTACAAAATACATCATTATATGATTCAAAAATCTGGACCACTAAAAATCAAAAAGGACGAAAAGTAGCAGTTCATTTTGTGAAAAATAATGGTATTCTCCCGCTTTCAAATGAATGTCTACTTTTGATAGAAG___GAGGTACACTCAGTGAAATTTGCAAACTCTCGAACAAGTTTAATAGTGTAATTCCTGTGAGATCTGGCCACGAAGACCTGGAACTTTTGGACCTTTCAGCACCATTTCTTATACAAGGAACAATACATCACTATGG___ATGTAAACAGTGTTCTAGTTTGAGATCCATACAAAATCTAAATTCCCTGGTTGATAAAACATCGTGGATTCCTTCTTCTGTGGCAGAAG___CACTGGGTATTGTACCCCTCCAATATGTGTTTGTTATGACCTTTACACTTGATGATGGAACAGGAGTACTAGAAGCCTATCTCATGGATTCT___GACAAATTCTTCCAGATTCCAGCATCAGAAGTTCTGATGGATGATGACCTTCAGAAAAGTGTGGATATGATCATGGATATGTTTTGTCCTCCAGGAATAAAAATTG___ATGCATATCCGTGGTTGGAATGCTTCATCAAGTCATACAATGTCACAAATGGAACAGATAATCAAATTTGCTATCAGATTTTTGACACCACAGTTGCAGAAGATGTAATCTAATATTGCCATCCAATTTAGCATACATAAAATGTTGCCACTCACCTTCCCTGTTTGAGCTTCTTTTCCTGACCTGAGTTTTGTATCAGCAATGTTGATGATGTTAGCATGGGTATGGGATTAGAAAATGTCCTTACCTTAAATCTCTTGGCTTTTACTGGGTGCAAGGTAAATAATGGCTATGGATTTTGTTTTGCTTTCTGTTTTGCTTTTGTACAAAGAGACCTGCTTAAACAAGTACTGCTGAGATAAGTGTCTGATCAAGCTACAGTGTACTTTAAGTAGAAATGGCAAAGTTGCTTTGTTGGGGTGCTGATACTGATGATTTTAGGATAAATTCATTTCTTTAAACTTGTAATACATGGTTTTATTGCTTGTTTCTCTCCAGGATAGTAGAGATTTCTCTATTTCACCTCAACCTAATAAAAGTGGTCAGATTTATAATGTTAATGACTTAATATTATCCTTTTCTAATAGTCTCATGTAAAATATGCCGCTATTACAACTTACAACTAATTGAATGAGATGTTAACTTAGTAAAATAGTTTGATTTTTACCTGACAGTGTTTGTCAAATTTAAAATCATGAATATTCAATTTTATACAAACATTTATATATATATATATAGATTTGTGTATGTTATTTGCCAAAGACAGATATAAATTACCTGGTTTAATATTAGTGAAGAATAAATAAGTGCACACATTTCAACTGTTTCATTTATTTGCCCTAAGTTGAGCTGAAAAATGATATGAGGCAAAGAATCGAAATAGGTGTGGCAATGCAGCAGATGTTTAGGGCTGTCTACATCCCAGGTACTGTGCTAAGCACTAAACATGTATTTGATCCTCACAGCAACCTATTTTTCCGATAAGAAATCTGAGGCTTGATTGATAAGCTGACTTGACTAAGTTCACACAGTTTGTAAAAGCTAGAGTCTGTGCCTTAATTCACATAATCTCTATTCAGAGCCTGTACTGTTAACCACTCAAGGATTCTGGAACAGAAGCTAACAGTTTTCTGCAACGAGTCTTTGACTTAAACATCTGAAATAACATTGGAAATAGATTATAAGAGGAGTCAGTGTGTTTTTCTATAGTTTCAAAATACTTTTAACATCTTATTGTCAAAAAGATTGGATAACTGACTTTCTTTGCTCATAATAACTCTAAATTCTAGTTCCTGAGTACATTAACACATCTTCTTTACCTAACTACCAATGTCCCCCATCATCGACTTATCAGCTTGTTTGAGACAATGAGAAAGACTGATTTTATTTTCAAGAATATAGACTCTTGGTTCAAAACATTTTCAGGAAAAATATTTTAAAACCCTACAGTTGAACAGGTGTGTTTCCGTGTTGATGATGTGCTCAGGATACAAAGGTGAAATAAACATTTTTTCTGCCTTCAGGAAGCCCTCAATCTAGAAGAGTAGAGGTCCAAAGGTGCCATATGTTCACACTGTGAGCCTGCAAGATCTCCACGTTAACAAAGGAAAACTCTTCCTATGAATCTTCATGATGATAGGCCATGTCTCTTCTTATTTTTGTTTTAAATAAACATCCACCTTATCATG)$ MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGDSELLSRLLSERFSVNQLDSDHWAPIHYACc|tyrssvfgedttmchfetkssstiphpskievi* 05BR003 ENSG00000001631.15 ENSG00000128513.16 -/- -/- chr7:92234808 chr7:124842963 CDS/splice-site CDS/splice-site duplication 1 0 1 170 51 medium out-of-frame . NUDIX__or_N-terminal_NPxY_motif-rich___region_of_KRIT(100%)| . . ENSG00000001631.15 ENSG00000128513.16 ENST00000394507.5 ENST00000393329.5 upstream downstream . ^(GCTCCGGCTCAGCCGCTGGCACCCCCACCGCCACCACCCTAGTCTCCTAGTCGCCTGCCACCAGCCCCTGAGAGACTGCAGGTCCAGTGAAAAGGAGCAGGAACGGCAGCAGCCCGGCCGCCGACCCGGAAGCTCTTTCACCGCCAACCGCGAGGCTGCAAAGGGTGTGAACCCGGAAGCGATTTCATAGCCACG___GTGACTGTCCCACCCATTTAGTTGAATGTAGCGGCCAGAGAGGCACTCGCGGCAGCCCGTACGGGTGGGACCTCTCGGTGTCCTTCGGGAAACAGGAGGAGCAAGTTCGACTCCAGCGAGGGAAAACGGAGGTGGGAGACTGAACCATCTCCACATCTAGTTGCCCCAG___GTTTTTGGCTTTCATCGCTTTTTCTACATGTTTTTAGCCTCACCAGAAGTCTTTCATCTCGGTGGTCCAACTCAGGATCTCAGCCTCATTATTTTCTTACCCTTCTGGAGTGCATATGTGCCTTTACAGTTTCTGTTTGCAAACGCTGTCTAGCATACTAAGAGGATGTTAGCAAACCTGTTCCATGGACACTAAATGGCAGTTGTACATCTCCCCTCATCAGTCATAGTGACAACCAGAAATGCCCTCCATATTTTCCAGTGATCCCAG___TCTTCAATGCGTCTGTCTCATAATTTGTAAACGTTTATTATCTTGAAGTCATTGTTAATCTGTGGTGAAAAGTAATTGCTAAATAGAAATTCTGAGAAGAAAAAGGCCTCATCCTTTTCACATGATGTAGGAAGGTCTGTTGCATGAG___CAATGGGAAATCCAGAAAACATAGAAGATGCATATGTTGCTGTTATTCGTCCAAAGAATACTGCCAGTCTCAATTCTCGGGAATACAGAGCTAAGTCATATGAA___ATTTTGTTGCATGAAGTTCCCATTGAAGGACAGAAAAAAAAGAGAAAGAAAGTTTTATTGGAAACGAAACTTCAAGGCAACAGTGAAATAACACAAGGCATATTGGATTACGTAGTAGAAACCACCAAACCAATTTCTCCTGCAAACCAGGGTATCAGAG___GAAAACGAGTTGTACTAATGAAAAAATTTCCTCTGGATGGAGAGAAGATGGGCAGAGAAGCATCATTATTTATTGTTCCATCAGTTGTCAAAG___ATAATACTAAATACACATATACCCCAGGATGCCCAATTTTTTACTGCTTACAAGATATTATGCGAGTCTGTAGTGAATCCAGTACTCATTTTGCTACACTTACAGCAAGGATGTTAATAGCCTTGGATAA___GTGGTTAGATGAACGTCATGCACAATCTCACTTTATTCCAGCTTTATTCCGACCTTCTCCTCTTGAGCGGATAAAAACTAATGTCATAAATCCTGCATATGCTACTGAATCAGGTCAGACAGAAAACTCACTACATATGGGCTATAGTGCACTAGAAATAAAGAGTAAAATGTTAGCCCTAGAG)AAAGCAGATACCTGTATTTACAACCCTTTGTTTGGATCAGATCTTCAGTATACAAATCGG___GTAGATAAAGTGGTAATAAATCCATACTTTGGTCTAGGAGCTCCAGACTACTCAAAAATCCAAATACCTAAACAGGAAAAATGGCAGAGAAGCATGAGCAGTGTCACAGAAGACAA|TACTTACAGATCATCAGTATTTGGAGAGGACACCACTATGTGCCATTTTGAAACAAAAAGCTCCTCAACAATACCGCATCCGAGCAAAATTGAGGTCATATAAGCCCAGAAGACTATTTCAGTCTGTTAAACTTCATTGCCCTAAATGTCATTTGCT___GCAAG(AAGTTCCACATGAGGGCGATTTGGATATAATTTTTCAGGATGGTGCAACTAAAACCCCAGATGTCAAGCTACAAAATACATCATTATATGATTCAAAAATCTGGACCACTAAAAATCAAAAAGGACGAAAAGTAGCAGTTCATTTTGTGAAAAATAATGGTATTCTCCCGCTTTCAAATGAATGTCTACTTTTGATAGAAG___GAGGTACACTCAGTGAAATTTGCAAACTCTCGAACAAGTTTAATAGTGTAATTCCTGTGAGATCTGGCCACGAAGACCTGGAACTTTTGGACCTTTCAGCACCATTTCTTATACAAGGAACAATACATCACTATGG___ATGTAAACAGTGTTCTAGTTTGAGATCCATACAAAATCTAAATTCCCTGGTTGATAAAACATCGTGGATTCCTTCTTCTGTGGCAGAAG___CACTGGGTATTGTACCCCTCCAATATGTGTTTGTTATGACCTTTACACTTGATGATGGAACAGGAGTACTAGAAGCCTATCTCATGGATTCT___GACAAATTCTTCCAGATTCCAGCATCAGAAGTTCTGATGGATGATGACCTTCAGAAAAGTGTGGATATGATCATGGATATGTTTTGTCCTCCAGGAATAAAAATTG___ATGCATATCCGTGGTTGGAATGCTTCATCAAGTCATACAATGTCACAAATGGAACAGATAATCAAATTTGCTATCAGATTTTTGACACCACAGTTGCAGAAGATGTAATCTAATATTGCCATCCAATTTAGCATACATAAAATGTTGCCACTCACCTTCCCTGTTTGAGCTTCTTTTCCTGACCTGAGTTTTGTATCAGCAATGTTGATGATGTTAGCATGGGTATGGGATTAGAAAATGTCCTTACCTTAAATCTCTTGGCTTTTACTGGGTGCAAGGTAAATAATGGCTATGGATTTTGTTTTGCTTTCTGTTTTGCTTTTGTACAAAGAGACCTGCTTAAACAAGTACTGCTGAGATAAGTGTCTGATCAAGCTACAGTGTACTTTAAGTAGAAATGGCAAAGTTGCTTTGTTGGGGTGCTGATACTGATGATTTTAGGATAAATTCATTTCTTTAAACTTGTAATACATGGTTTTATTGCTTGTTTCTCTCCAGGATAGTAGAGATTTCTCTATTTCACCTCAACCTAATAAAAGTGGTCAGATTTATAATGTTAATGACTTAATATTATCCTTTTCTAATAGTCTCATGTAAAATATGCCGCTATTACAACTTACAACTAATTGAATGAGATGTTAACTTAGTAAAATAGTTTGATTTTTACCTGACAGTGTTTGTCAAATTTAAAATCATGAATATTCAATTTTATACAAACATTTATATATATATATATAGATTTGTGTATGTTATTTGCCAAAGACAGATATAAATTACCTGGTTTAATATTAGTGAAGAATAAATAAGTGCACACATTTCAACTGTTTCATTTATTTGCCCTAAGTTGAGCTGAAAAATGATATGAGGCAAAGAATCGAAATAGGTGTGGCAATGCAGCAGATGTTTAGGGCTGTCTACATCCCAGGTACTGTGCTAAGCACTAAACATGTATTTGATCCTCACAGCAACCTATTTTTCCGATAAGAAATCTGAGGCTTGATTGATAAGCTGACTTGACTAAGTTCACACAGTTTGTAAAAGCTAGAGTCTGTGCCTTAATTCACATAATCTCTATTCAGAGCCTGTACTGTTAACCACTCAAGGATTCTGGAACAGAAGCTAACAGTTTTCTGCAACGAGTCTTTGACTTAAACATCTGAAATAACATTGGAAATAGATTATAAGAGGAGTCAGTGTGTTTTTCTATAGTTTCAAAATACTTTTAACATCTTATTGTCAAAAAGATTGGATAACTGACTTTCTTTGCTCATAATAACTCTAAATTCTAGTTCCTGAGTACATTAACACATCTTCTTTACCTAACTACCAATGTCCCCCATCATCGACTTATCAGCTTGTTTGAGACAATGAGAAAGACTGATTTTATTTTCAAGAATATAGACTCTTGGTTCAAAACATTTTCAGGAAAAATATTTTAAAACCCTACAGTTGAACAGGTGTGTTTCCGTGTTGATGATGTGCTCAGGATACAAAGGTGAAATAAACATTTTTTCTGCCTTCAGGAAGCCCTCAATCTAGAAGAGTAGAGGTCCAAAGGTGCCATATGTTCACACTGTGAGCCTGCAAGATCTCCACGTTAACAAAGGAAAACTCTTCCTATGAATCTTCATGATGATAGGCCATGTCTCTTCTTATTTTTGTTTTAAATAAACATCCACCTTATCATG)$ MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDn|tyrssvfgedttmchfetkssstiphpskievi* 05BR003 ENSG00000128513.16 ENSG00000271368.1(77213),ENSG00000237064.1(117648) -/- ./- chr7:124835279 chr7:109841570 CDS/splice-site intergenic deletion 10 4 0 61 20 high out-of-frame . Telomeric_single_stranded_DNA_binding_POT1/CDC13(100%),ssDNA-binding_domain_of_telomere_protection_protein(100%)| . . ENSG00000128513.16 . ENST00000393329.5 . upstream downstream duplicates(1) ^(GTCAGTATTTCGCCAAACCTCCAGGCGCCATCAGTGTGTGAACCGTTACGCAGCTGGTCCACCGCGGGCGGAGAACAAGCGACTATGCCCAGGGATCCTGCACGCATGCGTGGAGCTGAACCGTCAGCGTGCGTGTGACGTCACCTGCGCGCCCGCCTAAACTCTTCCTAGGGTTCTTTCTAGAGTACGG___CAGCAAGTTGTCAGATTCCCTAGTTGAATTTGCTTTGGACATCAGTGTGAAGCAGAACTGATATGCCACTTGAATTAATAAAGGAAGTCAATGGGGTGCCTGAAGTTCAGCCGCTGAGTAAATTACATAAAGTAGATTTCGGATCCCTACAGCCAGGTTACAATTATAGCAAGAAATATATTCAG___GGAAAACTTTCACTTATCTCTTCTTTAACTTATCGTGGAAATAAAACAGCTGTTTTGCAGATTGGACTACAAG___GACACCATTGCAGTGGCTAGATTTATTGTTTTTTTAGCTTCTTCATCTACAAGCAGAGATGGTAAACCTTGCATATTTTTGAAAGCATTTGAAGACCTCAAATCAACTGTTTAT___GTTTATGTCAAATCTTTAAGAGATTTTTCTACAGAATCAATGTCTTTG___GTTCCAGCAACAAATTATATATATACACCCCTGAATCAACTTAAGGGTGGTACAATTGTCAATGTCTATGGTGTTGTGAAGTTCTTTAAGCCCCCATATCTAAGCAAAGGAACTG___ATTCAAGTATATAAAAAGGAGACTCAGGGTATCACCAGCTCTGGCTTTGCATCTTTGACGTTTGAGGGAACTTTGGGAGCCCCTATCATACCTCGCACTTCAAGCAAGTATTTTAACTTCACTACTGAGGACCACAAAATGGTAGAAGCCTTACGTGTTTGGGCATCTACTCATATGTCACCGTCTTGGACATTACTAAAATTGTGTGATGTTCAGCCAATGCAGTATTTTGACCTGACTTGTCAGCTCTTGGGCAAAGCAGAAGTGGACGGAGCATCATTTCTTCTAAAG___GTATGGGATGGCACCAGGACACCATTTCCATCTTGGAGAGTCTTAATACAAGACCTTGTTCTTGAAGGTGATTTAAGTCACATCCATCGGCTACAAAATCTGACAATAGACATTTTAGTCTACGATAACCATGTTCATGTGGCAAGATCTCTGAAG___GTTGGAAGCTTTCTTAGAATCTATAGCCTTCATACCAAACTTCAATCAATGAATTCAGAGAATCAGACAATGTTAAGTTTAGAGTTTCATCTTCATGGAGGTACCAGTTACGGTCGGGGAATCAGGGTCTTGCCAGAAAGTAACTCTGATGTGGATCAACTGAAAAA___GGATTTAGAATCTGCAAATTTGACAGCCAATCAGCATTCAGATGTTATCTGTCAATCAGAACCTGACGACAGCTTTCCAA___GCTCTGGATCAGTATCATTATACGAGGTAGAAAGATGTCAACAGCTATCTGCTACAA___TACTTACAGATCATCAGTATTTGGAGAGGACACCACTATGTGCCATTTTGAAACAAAAAGCTCCTCAACAATACCGCATCCGAGCAAAATTGAGGTCATATAAGCCCAGAAGACTATTTCAGTCTGTTAAACTTCATTGCCCTAAATGTCATTTGCT___GCAAGAAGTTCCACATGAGGGCGATTTGGATATAATTTTTCAGGATGGTGCAACTAAAACCCCAGATGTCAAGCTACAAAATACATCATTATATGATTCAAAAATCTGGACCACTAAAAATCAAAAAGGACGAAAAGT)AGCAGTTCATTTTGTGAAAAATAATGGTATTCTCCCGCTTTCAAATGAATGTCTACTTTTGATAGAAG___GAGGTACACTCAGTGAAATTTGCAAACTCTCGAACAAGTTTAATAGTGTAATTCCTGTGAGATCTGGCCACGAAGACCTGGAACTTTTGGACCTTTCAGCACCATTTCTTATACAAGGAACAATACATCACTATGG|CTGCTTTTAATTGGTAGACTTTGTTGAGTGTGTCACCATCAACCACACACAAAAAATGGAAACATGTATGAATGACTCTTAAAGAATTAATAGATTCAAGCCTGCTGATTCCTTGTCAACAG___GTCTACATGAAGAAGAAATGATGGGACCAAACAATCAGGAAGCAG MVEALRVWASTHMSPSWTLLKLCDVQPMQYFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTIDILVYDNHVHVARSLKVGSFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLESANLTANQHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSVIPVRSGHEDLELLDLSAPFLIQGTIHHYg|cf* 05BR003 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 1 11 0 9 22 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream low_entropy(1) ATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCC(TCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 05BR003 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 5 5 1 12 20 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1) CTCACCCTCAA___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAG(ACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05BR003 ENSG00000127995.17 ENSG00000226066.1(141877),ENSG00000231244.1(83677) +/+ ./- chr7:94539056 chr7:136630194 CDS/splice-site intergenic inversion 7 4 0 167 26 high out-of-frame . 10_TM_Acyl_Transferase_domain_found_in_Cas1p(100%)| . . ENSG00000127995.17 . ENST00000297273.9 . downstream downstream duplicates(1) ^(GAGACAGGCGTCCAGGGCGCCTGGGGAACCGGCACGGCGGAGCAGCGGCGGCGGGGCTGGGGGGAGGCCGCCGAGTCGGCCGCGGCCGAGGAGGGGCAGGCGGAGGTCGGGGGCGCCGCGGCCGCGGGGTCAGGTTCCCCGGCGGGAGGCGCAGGTGGCGGCCTGGGGAGCTGGCGGCCGCTCCTCGCCTGGCTGCAGCGGCGGCAGCCCCAGTGCTGCCCCTGTGCGGCGCCCCTTTCCCGCTCCGCCGCGCACTGTTGTCATGGAGGAACCAAGATGGCGGCTCTGGCCTACAACCTGGGCAAGCGGGAGATCAACCACTACTTCAGCGTGAGGAGCGCCAAGGTGCTGGCGCTGGTGGCCGTGCTGCTGCTCGCAGCGTGCCACCTCGCCTCCCGCCGCTACCGAG___GCAATGATTCGTGTGAATACCTTCTCTCAAGTGGCAGATTTCTTGGAGAGAAAGTTTGGCAACCTCACAGTTGTATGATGCATAAATACAAAATCAG___TGAAGCAAAGAACTGCCTTGTAGATAAACATATTGCATTTATTGGAGATTCCAGAATTCGTCAATTGTTTTATTCTTTTGTAAAAATAATTAATCCCCAATTCAAAGAAGAAGGAAATAAG___CATGAAAACATTCCTTTTGAAGACAAGACTGCATCAGTTAAAGTG___GATTTTCTGTGGCATCCTGAAGTTAATGGTTCTATGAAACAGTGTATCAAAGTGTGGACTGAG___GATTCCATTGCAAAGCCACATGTGATTGTAGCAGGAGCTGCCACA___TGGTCCATCAAGATTCACAATGGTAGCAGTGAAGCGCTTTCTCAATATAAAATGAACATCACCTCCATAGCACCACTTTTAGAAAAATTGGCAAAGACTAGTGATGTTTATTGGGTCTTACAAG___ATCCTGTTTATGAAGATCTATTAAGTGAAAATAGGAAGATGATCACTAATGAGAAGATAGATGCTTACAATGAAGCTGCAGTCAGTATTTTGAATAGTAGCACCAGAAATTCTAAATCAAATGTTAAGATGTTCAGTGTTTCCAAATTAATTGCTCAAGAAACCATCATGGAATCTTTGGATGGCTTACATCTTCCTGAATCGAGCAGAGAAACT___ACTGCAATGATTCTTATGAATGTGTATTGCAATAAGATTTTGAAGCCTGTAGATGGGTCCTGTTGTCAACCTCGGCCTCCTGTTACTCTCATACAGAAGCTAGCTGCTTGTTTTTTCACTTTATCTATTATCGGATATTTAATTTTTTACATAATTCATCGTAATGCTCATCGGAAGAATAAGCCGTGTACTGATTTGGAAAGTGGAGAGGAAAAGAAAAATATTATCAATACCCCTGTGTCTTCATTAGAAATACTTTTACAATCTTTCTGCAAACTTGGCCTGATTATGGCATATTTCTATATGTGTGACCGTGCAAATCTGTTCATGAAGGAAAACAAATTTTATACACATTCATCTTTCTTTATTCCAATTATCTACATTTTGGTTTTGGGAGTATTTTATAATGAAAATAC)TAAtGAG___ACTAAAGTATTAAATAGAGAACAAACAGACGAATGGAAAGGCTGGATGCAACTTGTGATTTTGATTTATCACATTTCTGGAGCAAGTACA|CTACCCCACCGTTTATGAGCCATCACCCTGATCCATCAGCAGCCATCAACATCAAGGCAAGACCCTCCACCAGAAAAAAAAGATAACAACTCACTGAAAGCTTACATGATG___AATTGAAGAGAGTTAGTGTGTCTGGAATTGGTTCCTTCTGGTTGGTTCTTGGTCTCACTGACTTCAAGAATGAAGCCGCGGACCTTCGGG___GTCAGTTTCCCTGCACATGCTCTCTTGCC MAALAYNLGKREINHYFSVRSAKVLALVAVLLLAACHLASRRYRGNDSCEYLLSSGRFLGEKVWQPHSCMMHKYKISEAKNCLVDKHIAFIGDSRIRQLFYSFVKIINPQFKEEGNKHENIPFEDKTASVKVDFLWHPEVNGSMKQCIKVWTEDSIAKPHVIVAGAATWSIKIHNGSSEALSQYKMNITSIAPLLEKLAKTSDVYWVLQDPVYEDLLSENRKMITNEKIDAYNEAAVSILNSSTRNSKSNVKMFSVSKLIAQETIMESLDGLHLPESSRETTAMILMNVYCNKILKPVDGSCCQPRPPVTLIQKLAACFFTLSIIGYLIFYIIHRNAHRKNKPCTDLESGEEKKNIINTPVSSLEILLQSFCKLGLIMAYFYMCDRANLFMKENKFYTHSSFFIPIIYILVLGVFYNENTnETKVLNREQTDEWKGWMQLVILIYHISGAST|lphrl* 05BR003 ENSG00000183570.16 ENSG00000157542.11 +/+ -/- chr21:45735429 chr21:37625484 5'UTR/splice-site CDS/splice-site inversion 1 8 1 12 29 high . . |Inward_rectifier_potassium_channel(100%) . . ENSG00000183570.16 ENSG00000157542.11 ENST00000400314.5 ENST00000645093.1 downstream downstream . ^(TCGGGCTGGAGCGCCTGAAGCCGCGACCGCCGCCTCAGCCGCCTCAGCCGCGGTCGCCGCCGCTTCGGCTGACTTAGGCTCCGCCGCCGCCTCCTCACCCGCCTCGCCCCGACCCCGCC)CGGGCCTCCCGGCCTCTCCCCGCCGGCCCGCGGGCTCGCCGTCCGGCGCAGGGCAG___AGAAAGTTGTATGGAGATTGTG___GACTGTCTACAAGAGAGAAGCTCCCCACGTGGTTCCGT|GGATGACATGCCAAGCTCGAAGCTCCTACATCACCAGTGAGATCCTGTGGGGTTACCGGTTCACACCTGTCCTGACCCTGGAGGAtGGGTTCTACGAAGTTGACTACAACAGCTTCCATGAGACCTATGAGACCAGCACCCCATCCCTTAGTGCCAAAGAGCTGGCCGAGTTAGCCAGCAGGGCAGAGCTGCCCCTGAGTTGGTCTGTATCCAGCAAACTCAACCAACATGCAGAACTGGAGACTGAAGAGGAAGAAAAGAACCTCGAAGAGCAAACAGAAAGAAATGGTGATGTGGCAAACCTG(GAGAATGAATCCAAAGTTTAGTGCCCTAGCTGGGCAAACCCTTCTCTTCTCCCCCCAACACAATCTTTCCTTGTCTCTCATTCTCTTTCTTTTTCTGTCTCTCTTGCTTTGTTCTTTATTTGTTTATATTTAATTTTTACATGACCAGAAAACAAATCTTCAAGGTGTAAAATATCTACCTGCCCTCTCTCAGTTATTCAGATTGACAAGGTAGACATGGATTTGATGAAAGTGCAAAGTGCCCTCATTTGTGGCCCAAGCCTGGTCTCCTCCCAAAATACTACACATCCAACTCCTGGAGATTTCAGTTACTTACCTGCATGTGTTGTACAATACCAGATCACTCAAAAAGGTGTGTCAAAGATTTTACCTGGGATATGACAAGCAAGGTTTCTGGTGCCTATTTATTCATTCAGTGAGACACAGAGTGGAGCCCTCAGTTTTATGGATCCCAATTCATTTCATCTACTACAGGGTGAGGTGCTTGCCCCCATGTGGGTGTGGCAGTTACAGGGCCCAGGTGAGCTGAAGACAAACCACTGTACATATATATGCCTTATGTAATTATTTTCTTTTTGTAATTAGTAATAAAACCCAGCATGTACAAAAGTACCATAGAACAGAACTGCTAAATACTGTACATAGATGTATCATTAATGTAGGTTTAGATATATAACTTTAGAAATAAGAAGCAAAAAAAAAAAGAAAGAAAGAAAGATTCCTAACATGCAGTAGGCATTTCTGTTTTGATGTCTGTGTTTTCCAGGTTATTTTGATCCAGTTGACGGCTGGCCCTTCAGTGCATGGCCTTTGTTTGTGTCTCAGACTGGCAGACGTTAGGGTACCTCACTGTTCCCACACGGATCCTTTCATTGAATCCAACAAGCCATAGGTCTGGGGGAAATTGAGAGGTCTGGTAGATGGCAAAACCCACCACCAATATGCTGATATACTGTGAAATGTTACAAAACAGATGTCTTTTTTTAAAAGATAACAAGGGCCTCACTAACTGGCCTGGAGGAGGGGGAATACCAGGAAGGAAATATTCTCTAGCCTGTCACCAAAGGTATGTTTTTACTTTTCACATGAGCTCTTGCCCTTTGTAGTACAATAATTTAGGAAACTTTTCTGCAAAACCATTGATTCTCCAGCTGTAGTTTCTCTACACTCTTACAATGAGACATGGTAAGTTAGCAGAAGATGGTTTGGGTCTAAAGCCGTGAAATTCACAAAGGCATGTAGTGAGTGGCATGCATTATAATCATCGACCTCTCACTTTGACTCTATCTGGCTTTCTGAGAATGACATCTCGCCTGTCCCTGGGGCTTATCCATCAGCATTTCTTGCATTGTGATCTTTTATTATTTTGAAATGACCAGAGTTCAGTATTCAAAGATTAGATCAACAATCTTGATGATTGTCTAAGAAATGTCTCTAGAGTATGCCACAGGCTAGAAATCAAATCCAGTGTCTGTCAATCAAAAGAAAACAAATAAAAAAATTCCAGCCTTAATTCACTTTAATCTGCAAAAAGGAAAGAAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGTATTTGTACTGGAAATCTGAATTTTAAAATGAAAAAAATAA)$ . 05BR003 ENSG00000128513.16 ENSG00000271368.1(103162),ENSG00000237064.1(91699) -/- ./- chr7:124835279 chr7:109867519 CDS/splice-site intergenic deletion 8 1 0 61 8 high out-of-frame . Telomeric_single_stranded_DNA_binding_POT1/CDC13(100%),ssDNA-binding_domain_of_telomere_protection_protein(100%)| . . ENSG00000128513.16 . ENST00000393329.5 . upstream downstream . ^(GTCAGTATTTCGCCAAACCTCCAGGCGCCATCAGTGTGTGAACCGTTACGCAGCTGGTCCACCGCGGGCGGAGAACAAGCGACTATGCCCAGGGATCCTGCACGCATGCGTGGAGCTGAACCGTCAGCGTGCGTGTGACGTCACCTGCGCGCCCGCCTAAACTCTTCCTAGGGTTCTTTCTAGAGTACGG___CAGCAAGTTGTCAGATTCCCTAGTTGAATTTGCTTTGGACATCAGTGTGAAGCAGAACTGATATGCCACTTGAATTAATAAAGGAAGTCAATGGGGTGCCTGAAGTTCAGCCGCTGAGTAAATTACATAAAGTAGATTTCGGATCCCTACAGCCAGGTTACAATTATAGCAAGAAATATATTCAG___GGAAAACTTTCACTTATCTCTTCTTTAACTTATCGTGGAAATAAAACAGCTGTTTTGCAGATTGGACTACAAG___GACACCATTGCAGTGGCTAGATTTATTGTTTTTTTAGCTTCTTCATCTACAAGCAGAGATGGTAAACCTTGCATATTTTTGAAAGCATTTGAAGACCTCAAATCAACTGTTTAT___GTTTATGTCAAATCTTTAAGAGATTTTTCTACAGAATCAATGTCTTTG___GTTCCAGCAACAAATTATATATATACACCCCTGAATCAACTTAAGGGTGGTACAATTGTCAATGTCTATGGTGTTGTGAAGTTCTTTAAGCCCCCATATCTAAGCAAAGGAACTG___ATTCAAGTATATAAAAAGGAGACTCAGGGTATCACCAGCTCTGGCTTTGCATCTTTGACGTTTGAGGGAACTTTGGGAGCCCCTATCATACCTCGCACTTCAAGCAAGTATTTTAACTTCACTACTGAGGACCACAAAATGGTAGAAGCCTTACGTGTTTGGGCATCTACTCATATGTCACCGTCTTGGACATTACTAAAATTGTGTGATGTTCAGCCAATGCAGTATTTTGACCTGACTTGTCAGCTCTTGGGCAAAGCAGAAGTGGACGGAGCATCATTTCTTCTAAAG___GTATGGGATGGCACCAGGACACCATTTCCATCTTGGAGAGTCTTAATACAAGACCTTGTTCTTGAAGGTGATTTAAGTCACATCCATCGGCTACAAAATCTGACAATAGACATTTTAGTCTACGATAACCATGTTCATGTGGCAAGATCTCTGAAG___GTTGGAAGCTTTCTTAGAATCTATAGCCTTCATACCAAACTTCAATCAATGAATTCAGAGAATCAGACAATGTTAAGTTTAGAGTTTCATCTTCATGGAGGTACCAGTTACGGTCGGGGAATCAGGGTCTTGCCAGAAAGTAACTCTGATGTGGATCAACTGAAAAA___GGATTTAGAATCTGCAAATTTGACAGCCAATCAGCATTCAGATGTTATCTGTCAATCAGAACCTGACGACAGCTTTCCAA___GCTCTGGATCAGTATCATTATACGAGGTAGAAAGATGTCAACAGCTATCTGCTACAA___TACTTACAGATCATCAGTATTTGGAGAGGACACCACTATGTGCCATTTTGAAACAAAAAGCTCCTCAACAATACCGCATCCGAGCAAAATTGAGGTCATATAAGCCCAGAAGACTATTTCAGTCTGTTAAACTTCATTGCCCTAAATGTCATTTGCT___GCAAGAAGTTCCACATGAGGGCGATTTGGATATAATTTTTCAGGATGGTGCAACTAAAACCCCAGATGTCAAGCTACAAAATACATCATTATATGATTCAAAAATCTGGACCACTAAAAATCAAAAAGGACGAAAAGTAGCAGTTC)ATTTTGTGAAAAATAATGGTATTCTCCCGCTTTCAAATGAATGTCTACTTTTGATAGAAG___GAGGTACACTCAGTGAAATTTGCAAACTCTCGAACAAGTTTAATAGTGTAATTCCTGTGAGATCTGGCCACGAAGACCTGGAACTTTTGGACCTTTCAGCACCATTTCTTATACAAGGAACAATACATCACTATGG|TTCACTGATCATTTAATGGGAGCCACATCTATTAAATGTCTTCATGCTGTTATGAGGAATATTTTATCACTGGAAATAAAGCTAAACTCTTCAGGAAGTCAGGGAAAGAACCCTACAAAAACAGAATAACAAACACTTTGGAGTCAGCTGATCTTCAATCTG___CTGCTTTTAATTG MVEALRVWASTHMSPSWTLLKLCDVQPMQYFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTIDILVYDNHVHVARSLKVGSFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLESANLTANQHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSVIPVRSGHEDLELLDLSAPFLIQGTIHHYg|slii* 05BR003 ENSG00000162105.19 ENSG00000168014.16 -/- -/- chr11:71224697 chr11:74139828 5'UTR/splice-site CDS/splice-site duplication 4 3 0 47 30 high . . |C2_domain(100%) . . ENSG00000162105.19 ENSG00000168014.16 ENST00000601538.5 ENST00000334126.11 upstream downstream . ^CTCTAGAATACAGACAGTTCCTGCTCTAAGAGGCCATCTGTGAGGCTCAGTCTCCCAACACCTCTG|GTCTCACTTGCCCTGGAACCTCTGTCAGAAACTTACGACAGCTACCATCCACTTCCTACCACTGACATGACAGAAAATGTGCTTTTATCTAAGCAGGGATTCAGAGAGAATACTGAACCCAGCAGTACCCAGTTTCAGGTTCCATCAAGGCCTCGCGACATACATACCATCAAAATTGATGGAAAAGAGTTAGCAGCCAACAGC(AGTAGATCAACCACTCCGAG___GGGAAAAGACCATGTATGCTTTGCAGAGAACCCTGATACAATAAAGGATTCTTCCTTTGGACTACAGCACAGTCTTAATTCAGGACAGAGTTTAGAGTCTGTAACTCTGAAAGGCAGAGCTCCACGGAAGCAGATGTCCCTTCTGAACAGTTCTGAATTCCAGCCTCAAATTAGAACAGTTGCCAAGAGTCACAGTGACTCATGCATTCTTTCTTCAAACAACCTCCCTACCAAGGATCTTCTTTCAG___CTCTGTTAGAACAAGGCAATAAACTGCGTAATGCCATGGTGATTTCTGCAATGAAATCAAGCCCAGAGACCAGCATGTTGTTGGACCAAGTTCATCCTCCTATTAATGAAGATTCTCTTAGAGCATCAACACA___GATCAGAGCCTTTTCTAGGAATCGGTTTAAAGACCACATTGAAGATCACCTCCTCCCTTCAACTGAGAATACATTTTGGAGACATGACACAAAAGCTGATACCAGAGCTATACAGCTGCTATTAGGCAG___TGCTGAATTATCCCAAGGCAATTTCTGGGATGGGCTAGGCTCTCCTCCAGATTCCCCATCTCCTGGGAGTGATGTGTATTGCATCAGTGAGCTGAATGACCCTCAGTATGACCAGAGTCTTCTGGAGAATTTATTTTATACAGCACCT___AAATCTGATACCAGCATCAGTGATTTCCTCAGTGAAGAGGATGATATCGTCCCTTCTAAAAAAATAAGCCAGTCAACAGCTCTTGCCAGATCATCTAAGGTTCTGGAGTCAAGTGATCATAAGCTGAAGAAGAGGTCAGCAGGCAAGAGAAATAG___AAATTTGGTTGAACAACAGATGCTCTCAGAAACTCCAGAAGATGCCCAAACGATGACACTAAGTGTGGATAGACTGGCCCTTTTGGGTAGAACACATTCAGTCAGAATCATCATCGAAACCATGGGAGTTCCTCCAGATAGTCCTCAGATGACCCCTGGCAAAAAAAGCTATGCTGGTCCACCACCTAAGGTGACTACAGCAAAAAAGCG___CACTTTCTTTGTAGAATATCACTTTCCTGTGGGCTTTTCGGAAAGCGGATTGGGAAAGACAGCTTTGATCACTGAGGTTGTTCGACTCGCCTCCAGTAAAATTACAGATGGAA___AGGTGAAGTTCCAGCAGCGATTTGTGTTTCCAGTACAGTTTGGTGGCCCAATGATAGAGCACTGGTGGAATTCCAACCTCACTTTCCAAATTTATGTAAAGAAAACTCCACAGAAAAAG___CCAGAAGTCATTGGATCTGTGTCACTTTCTTTGCGAGCTGTCATTCAATCAGAGCTGCTTTCTTTCAGTGATCAGCTTCCAGTGCAACAAGAAAATGGTCAGTCTCCATTTGGCCCCCTCAAG___GTAACCATGGAGCTTATTACAGATAACAAAGATTTCACTGGTATCAATACTAAGTTAAGTGGCAACACCCATTATACCCCACTTTGTGCTCCTACAAGTCCAAATAAGGCACTACCAGAACTTAACCAAGATATGACCTGTACCAAAAATCCACAAAACTTAAACCAAATTCATGAGGAAACTGCAAAGAAAGCACAGAACTTGGTGCTCCCCAACCGAAAGTCACCAAGCCCTGTAGCACCACATCCTTCAACCTTCGTAGCTACGCCAGCCTCCCATAATTTAGTCAATCAGACAAATGGGACAACAAAAGAGAGTGCTTTGCTGTTGCATGTGCTGTTGATGGTGCCAGATGGGAAAGATTTTATTAGTGGAGAATCTGAGAAACAATCACCATGCAATGTTTATTTAAATTGTAAACTCTTCAGCACAGAGGAAGTCACCAGATCTGTCATCGCATGGGGCACAACACAACCGGTCTTTAACTTTTCTCAG___GTGATTCCTGTCTCTCTGTCTTCCAAATACCTGGAAAGGCTTAAGAACAATGTGATGGTAATTGAAACTTGGAATAAGGTGCGGAGCCCAGGACAGGACAAGCTGCTCGGGCTGGTGAAACTTCCCCTCCACCAGTTTTACATGTCATTCAA___AGATGCTAAGATTTCTCGCCTGCTGCTGGATGCCCAGTACCCAGTTGTTGCTGTCGACAGCTACATGCCTGTGATTGATGTGTTTTCAGGCCACCAAAATGGGAGTCTTCGAGTCTTTTTAGCTATGGGTTCTTCAAATCAAATAATGGCACTACAAAGATTAAAGAATGAAGAAGGAACACTCCCTCCCTTCAGCCCTAGGCCAGCCCATTTCCTGGACCAGCCAACTGCAGCATCTGTTGCTATG___GCAGAGGACCGAGGAAATGGACTGATGGAGCACTGCTTTGAGATCCATATAGAGATGGTTAAAGGGCTAGCCCCTCTTCAGGCAACAGTCTGGGGAGAAGCAGATTGTTATGTCCAGTACTACTTTCCAGTTCAACACTCTCAATCCAGTGTGCTGAAAGGACCTGAGTTCCTTGAAAATG___GAATTACTCTGAAGCCCTTCAGAACTGCAACCACACTCTGTGTTCCAGATCCCATCTTTAATAGTGAACACCATCACTCTCTCCTGTTGCCAGCTGAGGTTCCAGTGCAAAGGCTCCTACTAAGTGCTTTCTCTGCACAGGGCCTCGTGCCTGGAGGTGGAGTCCAGTTTGAAATCTGGTGCAG___ATACTATTATCCTAATGTGAGAGACCAGAAGGTCGCCAAAGGAACCTTGCCATTATCAAGGATCTGTGCTATGGTAACCACCCAGCATCGTGAGGATGTGGGAATACAGACCTTTAATCTCCCTTTAACCCCCAGGATTGAGAACAGGAAAGAATTGAGGAACCAGTCATCAG___GTTTACTGGATGTGGGCCTAAGGTACAGGCGTAGTCCAAGAACAGCAGAGGGAGTTCTTGCTGCCCGAACTGTTTCCATCTCAGTCCAGATTATCAGAGCCTGTGGTCTGCAAGCAGCAGCCAA___GGCTTTGGCTGAACGGGAACCCGCTCTACAGTTTAGTGCCACAGTCGGGGTCAATGCCTCTGTCACCACTCATCTCTCCTTCCTGCCCCAGGGAGAACAGCGCCGAACCCACCCTGTGGCCTGTTCTTTCTGCCCTGAGTTCTCCCATCACGTTGAGTTCACATGTAACTTGGTGACTCAGCACTGTAGTGGAGAGGCCTGTTTCCTAGCAGAGTTGTTGGAGTTTGCAGAAGTTATTTTTGCTGTCTATCATGAAAATACCAAGTCAG___CAAGTGATATAATCAGTATTGAGTCATGCAAAGAGTATCTGCTTGGAGTAGTAAAAGTTCCAACAAAAGAGCTGCTGATCAAGAGATCTG___GGATCACAGGATGGTATCCTATCATTTTACCAGAAGACGGGGGCCTACCTCATGGCCTGGAGCTCATGCAGAAGATCGTGGGTGGTCTGGAGCTTTCGATTTCCTTCACGCATCGTGGAGATAGAGAACGGGTGTTGGAAGCTGCTGAGCATTTGGGCTGGAGCTTTGAGAACAGCCTGAAAGATTTTGTCAGAATGGATGAAGGGGAGCCAGCCACTGTCACCATCTCCACCCCAAGGCTGTGGCTGCCCATCCATTGTGTGCTGCTTGCTGGCCACAACCACATTCATAAGAATACATATTGCTACCTTCGCTACAAGTTCTATGATCATGAAGCCTTTTGGACCCCTCTCAAGAAGCCTAAGGAATCTGTAAACAAAAAGCAGATTATGGTCACTTTCAAGGCATCCAAAAGAGCAGAAGTCACCAGGGGCCCATCACTGCTTTGGTACTTCAGGGAGGAGAGGCTAGAGATCCAAGTGTGGCGAGCTTATGGCAATGACAGTGTGGAGAGACCCCATCAGACAGACAGCTGGATTGGCTCAGCCTATGTGGACCTGGCCAGACTTGGGGAGAGGTCAGCGAGGACGCTAACTGTCAGTG___GTGTGTATCCTCTGTTTGGACGAAATGCTTCCAACCTCTCAGGAGCTGCCTTGCGAGTTCATGTGGTTCTTTCCTCTCTTTCCTCACACCTTGAGCCCACTCATGAGCTGGACTCCATGGACTGCAGCAGCCACAGTGAGTCTGAGCAGCTCCCCAGAAGGAATGATGAGGTCCAGCTCTCTCCACCAGAAGTCATCTCCTGCCACCAGAAGTCTCCTGCCTCCACCCAGGTCCCCTGCAGCAGCACCACAGCTGAAGTCCGCCTGACGCAGGAGGGCCCTGCTGATTTGGATGGAACGTTTGCAGTCAGCATCCTAGTAGAAAGAGCAATGCACTTGAGCTTGAAAG___GGAGCCCCTTGACAGAGCGGAAAGTATCGATACCCAGTTGTTGTGTATCCTTTGCAACAGCCGATGAGTCATCTCCTGTATACACCCAAGTGGTTGAAAACACAGATTCCCCCATCTGGAATTTTCAACAGCAGTCAAG___GCTATCAAAAGAGCTGCTTCTGGACCCACAACAAACCCTGGTCTTCAAAGTTTGGCATAAAGGAG___ATGAGGAGAGGGTGATTGGCTTTGCCTCGGTGGACCTCTCCCCACTTCTCTCTGGCTTCCAGTTTGTCTGTGGCTGGTACAACATCACAGACTTCAGTGGAGAGTGCCAGGGGCAGATAAAAGTTGCTGTCTCCCCTTTGGAGAGTTTGATACACTTCAAAGAAGAAAGGCAAGCAAGGCGTGGAGTGGAGACCTCAAAATCACTG___ATCCCAATATACAGTCCCTTTTCCTTCCCTGCCTCTGATACGTATGCTGCATTCTCCAGCCACATGGCAAGGCAGACCCTAGACCAACTTGCTCATGCCTCCTCAAAGGAGCTTGATTTCTCCTCTCCTGGGAG___AAGTGATACCACAAGAAGCCAAGCATCACGCCATGAAGAGCATGTGCAGAACATTCGCCGGTTTCATGAATCCCTGCATCTTCAGGGAGAGGCACCCTTGCCATGTGATGACAAACTGACCACATCACCTTTGTCCTCCCAAACCTCCATTCTGACTTCTCTCAG___GAAGAATCTGAGTGAGCTTGATCAGATTCAGAGGTACTTCCGCCAGAAGCTCACCAAGCCTTTCCTACCCCTCAGCCCTCAGACTCAAACGGCCATCTCACAGCACCAGGAGAGCTGTAGGGACCATCTTGGGCCAGGTGCCAGCAGCCTAGACCCTGGGAGCCAGTGTATCCTGGAGAAATCCAGTAACCTGGTGTTGCAAGTCAGCTCCTTAATCACAG___ATCTGCAGACTATCACCAGGGATTCGCAAGCAGCTTTGAGTTCTCACCGAGCCAGGAGTAGAAGCAACAAGGCCACCACCCTCCCAGATGCTCAGGACACAGAAGCACTGCAAGAACGATGCACAATGCCAGATGAGCCATTGGTAAGAGCTCCAGATAAAGGCACAGATTCCCCATCACCCCCTCCTCTCGAAGAGACTTCAAATGGAGGAAGAATGCTCCATGAGTCCCTGAGGCATGCAGTACCCATTACAAGGATGCAGAGCAGTGAAGACACTGAGGCAGGCCCAGCCTACAGTGATGAGGACTATGAAGAAGACATCATTGAGCCCAGGACCTTAAATGAGATCACCACGGTGACAGACAAAACTAGCCCTTGGTCTAGTGTCATATCAGACACAAGTGAGGTCATCAGCCCTCAGCCTGACGAGGTGCAGAGGGAAGGCCCCTCTTGTCCTTCTCCAGGGCCTTTCTGCAGAGAGGAGCTTATGGTCAAAAGTAGCTTTCTCTCCAGCCCAGAAAGGGCTGTCAACCCCCACCTGCCTAGGCAGGGTTCTCCTAGCCAAAGTCTTGTTGCTTGTGAGTGTGAGGCCTCTAAGGCCAGGGTTGGTGGCGAGTCTGCCTCAGCCAACCCTCAGCCCATCCCATGCCCAACACTCTCAGGAGCTCAACAGAGCAGCACGTTTGTTGGATGGAGCTCACCACAGACAGATCAGAACAAGGAGCCCAAGTCAGAGGCCCCAGCTGAGAATGAAGCTGCCACCAGTGAGCTCGGTGACTCTGCTGATAGCTTCAAGAAGTTGCCGCTAAATCTAGCCTCCCAGAGCAGAAGGGAAAACCATAAGGGACCACCCATCGACTCCTCTGACATCAGGCAGAGGCAGGTGACAACTGGATCAGAGACGTCCACAAAGCAGAGCCTCCTGCT___CCCAGGGCCCATTGTGGTGCCCAACTTCTTTTTGCCTCCCCAGCAGTTGGAGGCTTCCCTGCGGATGCTTTCACTCTCAGCAACTTTGCCACCAGCAGCCACAACAGATCAG___GACAAGAGCGAAGCCACCAGGGGAGCTCTCTCCCAAAGGCCTTGTCGCCCCAGACCTAACTCGCTCCCCCTCAACCTGCCTGAGGAAGAAACTCTCAGGATTGCACGGATATTTTCTTCTCAGTACTCCCAGAAAGACTGACGCAGCCTGAGGGGCTGGGGGGAAGGAGACACCTGCCCACCCTCCGTCAGCTTTGTCCAGCTTGCAGGAGGCACCAGGTCTGGCTCCTTCAGGGCTGTCACAGTCCTGAAACCACCACTTGCCTAGGCCACGGATGCCTCAAGAGACCCGGTCAGCCCAGACTGGAGGAGTGCCCCAAACCAGTCCAGTGTCCACTTGCCAGAATTTCAGCTCCTTTTTTCTGTGGTGAGGCAAAGGCTAGAAATAAAATGGAATCCGCGCCCAAGTGGGACCCAAGCAGGCATCTTTCGGTGGAGAAACGCCCCCCAGTGTCCTTGACACAGCTGACTGCTGGCATGAGCCCACCCTCTGCCTGAAGATGCAGGACCATTTTTGCCTTAAAAGTTGGGGAGGAGGGACATGTAGATTGTGTGCATTGTGCATAGTCAAGGAAATCCTAGGGCCACCTCCAGTTCATTTGTGTGGGAACAAGGATATTTTATAGATACAAATTATTTTTATGCTGTGTTGAATTAATCAATTAGGAGAGGAAGGGGAAATCACTTCCTTCAAACTTTTTATCTGATTGTCTAAAATTCTAACCATGCTTTTAACTTATTATTTTTACCCAGCTCTGAAGGTCATTGTTCTTGCCTGTGTTTGAATAAAATCATATTGGTGTTTGTAATCTG)$ . 05BR003 ENSG00000081803.16 ENSG00000106034.18 -/- +/+ chr7:122663237 chr7:121266227 CDS/splice-site CDS/splice-site inversion 2 4 1 155 55 high in-frame . . . . ENSG00000081803.16 ENSG00000106034.18 ENST00000313070.11 ENST00000310396.10 upstream upstream . ^(ATTCAATTCCACGTGTTGCTTGTTGTAGGCGCCACAGGTTCCCCACCTGCGTCCGGGCGCTCGGGCGGCTCCGCCTCTGCCGGCGGGCTCTGGGGAACCGCTGGGTCGGCGCGCCCGGGGCTGGCGGAGCAATTCCTGAGGCGCCCAAGCTCACCCCCAACGCTAACTCCGCCTATTCAGTCCCGGCGGCTCCCCCTCTCCCCCCTCCCAATCCTCCTCCCGGCTCCTGCCCGCCCCTTTCGCCCTGGTGGTAGGAAACACTCCTGAATCTAACTCGACGTGTCCGGAAAGCCCTGGCCAGTTTTCCTTTCGTTCTGCGGCCGCTGCAGCCAGCCCCGCGGCTCCCTCAGACCCGCGGGCGCAGCCGCCGGGGGTGAGGCGCTTGGGGACCGCGGGCCGAGCGGCGGGGATCCCCGAGCACCATGCTGGACCCGTCTTCCAGCGAAGAGGAGTCGGACGAGGGGCTGGAAGAGGAAAGCCGCGATGTGCTGGTGGCAGCCGGCAGCTCGCAGCGAGCTCCTCCAGCCCCGACTCGGGAAGGGCGGCGGGACGCGCCGGGGCGCGCGGGCGGCGGCGGCGCGGCCAGATCTGTGAGCCCGAGCCCCTCTGTGCTCAGCGAGGGGCGAGACGAGCCCCAGCGGCAGCTGGACGATGAGCAGGAGCGGAGGATCCGCCTGCAGCTCTACGTCTTCGTCGTGAGGTGCATCGCGTACCCCTTCAACGCCAAGCAGCCCACCGACATGGCCCGGAGGCAGCAGAAG___CTTAACAAACAACAGTTGCAGTTACTGAAAGAACGGTTCCAGGCCTTCCTCAATGGGGAAACCCAAATTGTAGCTGACGAAGCATTTTGCAACGCAGTTCGGAGTTATTATGAG___GTTTTTCTAAAGAGTGACCGAGTGGCCAGAATGGTACAGAGTGGAGGGTGTTCTGCTAATGACTTCAGAGAAGTATTTAAGAAAAACATAGAAAAACGTGTGCGGAGTTTGCCAGAAATAGATGGCTTGAGCAAAGAGACAGTGTTGAGCTCATGGATAGCCAAATATG)ATGCCATTTACAGAGGTGAAGAGGACTTGTGCAAACAGCCAAATAGAATGGCCCTAAGTGCAGTGTCTGAACTTATTCTGAGCAAGGAACAACTCTATGAAATGTTTCAGCAGATTCTGGGTATTAAAAAACTaGAACACCAGCTCCTTTATAATGCATGTCAG|ATTCTGTTCATTGGAGATTCAACCAACAGAGGGATCATGTACTATCTTATTGAAAGGCTGAATGAAACGTTGCAGGAATGGCAGAAAGTACATGGCACTAAATTCTATCACAACGTCAATGGTGGGAAGACTTTGATCAGTTATTCCTACTATCCC(CAGTTCTGGATAAGCCCTTCATTGAGACCAACATTTGAAAATGCACTTGAACACCTCTTGCAAAG___ATCACGTCCCCTAGAGAATACTGGCCAGACTGTATTGGTTGTTGGTGGTGTTCAGTGGCTTAATTCCAATCACCTGCAAATTATTCACAAAGTTTTGAAGAG___GGAAAATTTACTCAATATCCTAGTGATCATCAAAACTTTGGGAATTGGATTTCATCTGCCAGTGGATGGAGTACATTTCTTAACACAG___AGTGAAGTACAGAACTTATGGAAAGAAAATTTGATTATTCTGGATACTGCAAAAAAACATGGCTATGAAGTAGTTGACACATTCACTATAACAATGGGGCGTTACAAAGAGTTTCTACAGGGGAAGTGTGGATGTCATTTCCATGAG___GTAGTGAAATCAAAGTTATCCAAAGAATATAACTTTATTAAAATGAAAAGATCAAGAAATCATATCATGGGAAGATATTTCAGCAATCAAAGCAAACTACAACAAGGCACTGTAACAAATTTTCGATCGCCATATCATGTCAGAGGTCCAATAAATCAGGTTTGTTCTGAAATCCTTCTCAGCAGGATGTGTGCAAATAAAAGGACTATGTAGGCTCCCTGCAGGAGAGCTGAATCTGGAGCTGGAGACGAGCTAGTCACCCGGACAATGGTCTAGGAGCCAAGCGCTGCACATCGCACACATTTGGGATCGACCACACACACTTGTGCACACCAGCACATGCATGCACACCAGTACACACACAGTTAAATAATGATAACACTTCTTACAGCTTTATGAATTCAAGATGTGACCTTGAACACCAGTCCATTTCACAGTGAAAGATATACCTAGAGAAACGTTACTTGAAGCATAATTATTAACCAGAACCACTGTGGGCCAGGTATGGCATTGTGATAATAAAGAGAAATATAGACACTTAAAATTATGTGAAAAAAAGGATAATGCTCTTTCATGTTGTCTTACCATATCTATAGGTACATCAATATTGAAAAGGAGAAAAACCAATGACATTCCACTGGCAAGTAGAAGTTGTCCTTTCATTCTTTACCAGGAGAAAATGTGATGTTTATGATGGCTTAGGCTTTGTGAATCTAATGCTTATGAAAAACATTTCTTCCTATACTTTTTAAATTTTATTACTGAAAGGAAAAGAACAGGAATGTTCCACAAGGGAATTTGAAGAGATTCTGTGAGAGAGATATGAAATATTTTATAGTTAAAACACCAATATATTCAACTTTACACTTCTTGTGTTTTTCATAAACATTCCCTCTTGTCTTATCTGTGTACTTCGATGGGTAACTGCAGTCTGAATTAATGAAATATGTAATTTTAAAGTAAGTAACAAAATGTAGTTCCTCATGTATTACTGTACTATGTTTCATTGATGATATTACTTAAATCTTGTGTTTGCCATTACAGCCCTATGTAACTTAAAATTACAATTATATTTTATGTAAATATTTTGCAAAGGACTATGCATTCTGAAATGCATAGGTGCTTTTTCCCACCAAGCATTTGCATATGTCCACAAATAGTATTATGTTACTAGTATCTATATTTTGATTTTCCTGAGCAACTGTATCAAATCCAAATTTAGATTAGACAAAAAATTATTATTTTAATTAAACTGTGGCATACATATAATACATACCTAATTATAGTAGTGAGAACTATTTCTTTTATCTCTTTAGGTTCAAAATGGTGAATTTCTTTATTATATGAATGCTTTGTTGTGAGATAACATCACACTGTTACAATGGATTTTAGAGGTTTGTCTTTTTTGGGTGGGGTGGGAAGCTGAGAGGGTTAATTCAATACATGGCTGAAATTACCAAATGTATAAATACCTCATTTTCACTACCATACAAGAAAAAAACACCTATTTTGATTGATCAGTTCTTTTGTATGAATATCCACCTCCTTTAAATACTCTATTTTTATATATATTTTTATATGAAGATAAACATGAATTTATATTTAACTGTCTTAAATTATATTTACATAAATGCAAATATCACTTGATATAAACAATACAAATCTGCATCTTACAGATGATAATTTTTTTAGAAGAATGATACAGAATTAACTTTAAAAATAAAACTTTTCTAATATACACTTAAATGCAAACATCATTTTTAAATTTTCAGTGATTTTTTTAATGACATAAAACGTTACCAATGTGTGCAGCCTCTCCATCATGTTTTAACATACTGTATACTCTATAGCAGTATTACAGTCAGTATTTCATATAATTTTCTTTAGACCTAACTGTTACCATCTGACTGAGGTTACTCTGGTATTTATCTCTTCGCTGCTGAAATAATAATGGATTTTAGAAACAATTGTAATAATATCATTAATAAATGTCTTACTAGTAA)$ MARRQQKLNKQQLQLLKERFQAFLNGETQIVADEAFCNAVRSYYEVFLKSDRVARMVQSGGCSANDFREVFKKNIEKRVRSLPEIDGLSKETVLSSWIAKYDAIYRGEEDLCKQPNRMALSAVSELILSKEQLYEMFQQILGIKKLEHQLLYNACQ|ILFIGDSTNRGIMYYLIERLNETLQEWQKVHGTKFYHNVNGGKTLISYSYYPQFWISPSLRPTFENALEHLLQRSRPLENTGQTVLVVGGVQWLNSNHLQIIHKVLKRENLLNILVIIKTLGIGFHLPVDGVHFLTQSEVQNLWKENLIILDTAKKHGYEVVDTFTITMGRYKEFLQGKCGCHFHEVVKSKLSKEYNFIKMKRSRNHIMGRYFSNQSKLQQGTVTNFRSPYHVRGPINQVCSEILLSRMCANKRTM* 05BR003 ENSG00000132313.15 ENSG00000227791.3(36860),ENSG00000275588.1(114454) +/+ ./+ chr2:86206295 chr2:64702924 CDS/splice-site intergenic duplication 2 2 1 133 8 high out-of-frame . . . . ENSG00000132313.15 . ENST00000337109.9 . downstream upstream mismatches(1) ^(AAACCCAAAGCGGCCGCCGTAG)GCGAAGGTGAAGATGGCTGCCTCTGCCTTTGCTGGTGCtGTGAGAGCAGCTTCAG___GAATCCTACGGtCCCTGAATATTTTGGCATCTTCAACCTACCGCAACTGTGTCAAGAATGCCTCTCTTATTTCTGCATTGTCCACTGGACGTTTTAGTCATATTCAGACACCAGTTGTTTCCTCCACTCCCAGACTTACCACATCTGAGAGAAACCTGACATGTGGGCATACCTCAGTGATCCTTAATAG|AGATATAAGACCTAAGGGAAAGGCCTAGGCTAGACCAGCAACCAACTGAAGCATCCTGAGGAAATAATTTGTTTTATCTTCGGAATAAATGAACGATGCTCTTCGGAACCTTCCCCATCCCTGAACTTGCTACCGCTCAAATAATGGTATCTTGTAAATAATGCTCTTCTGAATTTGCACAAAAAGCAAAGGTATATGAGGAACTATGAGGGAACAAATGAAGGCCATAAAGACTTGTTCAGATGGTTGTTGTGTCAATTTTGAC MAASAFAGAVRAASGILRsLNILASSTYRNCVKNASLISALSTGRFSHIQTPVVSSTPRLTTSERNLTCGHTSVILNr|dirpkgka* 05BR003 ENSG00000205485.13 ENSG00000286738.1 +/+ +/+ chr7:76551522 chr7:45383580 exon/splice-site intron duplication 3 0 1 44 35 high . . . . . ENSG00000205485.13 ENSG00000286738.1 ENST00000418663.5 . downstream upstream . ^(GGTCATCGCTTGCTCTGGTTCCCAGGCTTTGGCCTCTAGTGGACGAGAATCACCGAGTCTGCGGGGCTAGACGCTGACCGCCCGGGCCAGCACCTAGGCGGGCGGGAGCTGTGCGGCCCAGGGTTCGCGCGGGCCGGGTAGAGGCTCGAGCCAGGACCCCCGAGCGTGAACCCCGGAGCCGGCGGCGCTGGGGCCAGAGGGGCCGGGCGGGAGGTGATGGCGGAGGCGAAGGGGCGACGGGACCTGGGCCTGGCCCGTGTGTGTCCTCAGAGGCCTGGCGCCGGCCGTCGCTGTACGGTGAGCCCCAGGGAGGCGGATCTGGGCCCCGAGAAGGACACCCACCTGGATTTGCCCCATAGGCCCGGCCCGGGCCCCTCGGGAGCAGAACAGCCTTGGTGAGGTGGACAGGAGGGGACCTCGTGAGCAGACGCGTGCGCCAGCGACAGCAGCCCGCC)CCGGCCTCTCAGGAGCCGTGGGGCAGAGGCTGCGGAGCCCCAGGAGG___GCCGGAGCCCTCATGACTTCAGTGACCTGCTTCTGCCCCTCTAGGTCTATCAGCCACAGTCTCTGCAAGTTTCCAAGAGCAGCAGAAAATGAACACATTGCAG|AAATCACTAGAATACCAAAAAAATTGGAGTCCAGATCCATGTGGTATTCAGAACTGGGTCTATGAGGATGTAAAGAATAAAC . 05BR003 ENSG00000134508.12 ENSG00000053747.16 +/+ +/+ chr18:23136607 chr18:23747943 CDS/splice-site CDS/splice-site deletion 1 2 0 15 17 high out-of-frame . |Laminin_B_(Domain_IV)(100%),Laminin_Domain_I(100%),Laminin_Domain_II(100%),Laminin_EGF_domain(100%),Laminin_G_domain(100%),Laminin_N-terminal_(Domain_VI)(100%) . . ENSG00000134508.12 ENSG00000053747.16 ENST00000256925.11 ENST00000313654.13 downstream upstream . ^(ATGGCGGCGGCGGCGGCGGCCGCCACCACGGCCGCCTGCAGCAGCGGCAGCGCCGGCACCGACGCCGCGGGCGCCAGCGGATTGCAGCAGCCGCCGCCGCAGCCCCAGCCTCAGCCCGCGGCCGCCGCGCCGGCCCAGCCGCCGCCCGAACCCCCCCGGAAGCCGCGCATGGACCCGCGGCGCCGCCAGGCTGCCCTCTCCTTCCTCACCAACATCTCGCTGGACGGCCGGCTGCCGCCGCAGGACGCGGAGTGGGGCGGTGGCGAGGAGGGCGGCGCGGCCAAGCCGGGCGCCGGCGGCGCCTGCGGCGCGAGGACTCGGTTCAGCTTGCTCGCCGCTGCCGAGCGGGGCGGCTGCATCGCGCTCGCCGCGCCGGGCACGCCGGCTGCGGGGTTAGCCGCTGGGTCCGGCCCCTGCCTCCCACAGCCCTCGTCGCTGCCGCCCTTGATTCCTGGCGGCCATGCGACCGTGTCCGGCCCCGGGGTGGCGCGGGGGTTCGCGAGTCCCCTGGGCGCCGGCCGGGCGTCGGGGGAGCAGTGGCAGCCGCCCCGGCCGGCGCCTCTCGCCGCCTGTGCCCAACTGCAGCTGCTCGACGGGTCCGGGGCCGCCGGGCAGGAGGAGTTGGAGGAGGACGATGCCTTTATCAGCGTGCAGGTGCCGGCGGCCGCCTTTTTGGGCTCCGGGACCCCCGGGAGTGGGAGCGGCAGTCGGGGACGCCTCAACTC)GTTCACTCAGGGAATCCTGCCCATCGCCTTCTCCAGGCCGACTTCGCAGAACTACTGCTCCCTGGAGCAGCCAGGCCAGGGCGGCAGCACCAGCGCCTTCGAGCAGCTGCAGAGGTCCCG|CTCTTCCATGTGGCCTATATTTTAATCAAATTTGCAAATTCTCCTCGCCCTGATCTTTGGGTCTTGGAAAGATCTGTAGACTTTGGAAGCAC(CTACTCACCATGGCAATATTTTGCTC___ATTCTAAAGTAGACTGTTTAAAAGAATTTGGGCGGGAGGCAAATATGGCTGTCACCCGGGATGATGATGTACTTTGTGTTACTGAATATTCCCGTATTGTACCTTTGGAAAATGGTGAG___GTTGTGGTGTCCTTGATAAACGGTCGTCCAGGTGCAAAAAATTTTACTTTCTCTCACACCCTGAGGGAGTTTACCAAGGCAACAAACATCCGCTTGCGTTTTCTTAGAACCAATACGCTTCTTGGACACCTCATCTCCAAAGCCCAGCGAGATCCAACTGTCACTCGGCGG___TATTATTACAGCATAAAGGACATCAGCATTGGTGGGCAGTGTGTTTGCAATGGCCATGCTGAAGTGTGCAATATAAACAATCCTGAAAAACT___GTTTCGGTGTGAATGCCAGCACCACACCTGTGGGGAGACGTGTGATCGCTGCTGCACAGGGTACAATCAGAGGCGCTGGCGGCCCGCCGCTTGGGAGCAGAGCCACGAGTGTGAAG___CATGCAACTGCCACGGCCATGCCAGCAACTGTTACTATGATCCAGATGTTGAGCGGCAGCAGGCAAGCTTGAATACCCAGGGCATCTATGCTGGTGGAGGGGTCTGCATTAACTGTCAG___CACAACACAGCTGGAGTAAACTGTGAACAGTGTGCTAAGGGCTATTACCGCCCTTATGGGGTTCCAGTGGATGCCCCTGATGGCTGCATCC___CCTGCAGCTGTGACCCTGAGCATGCGGATGGCTGTGAACAGGGTTCAGGCCGCTGTCACTGCAAGCCAAATTTCCACGGAGACAACTGTGAGAAGTGTGCAATTGGATACTACAATTTCCCATTTTGCTTGA___GAATTCCCATTTTTCCTGTTTCTACACCAAGTTCAGAAGATCCAGTAGCTGGAGATATAAAAG___GGTGTGACTGTAATCTGGAAGGTGTTCTCCCTGAAATATGTGATGCCCACGGACGGTGCCTGTGCCGCCCTGGGGTTGAGGGCCCTCGATGTGATACCTGCCGCTCTGGTTTCTACTCATTCCCTATTTGCCAAG___CCTGCTGGTGTTCAGCCCTTGGATCCTACCAGATGCCCTGCAGCTCAGTGACTGGACAGTGTGAATGTCGGCCAGGAGTTACAGGACAGCGGTGTGACAGGTGTCTCTCAGGAGCTTATGATTTCCCCCACTGCCAAG___GTTCCAGCAGTGCTTGTGACCCAGCTGGTACCATCAACTCCAATTTG___GGGTATTGCCAATGCAAGCTTCATGTTGAAGGTCCTACTTGTAGCCGCTGCAAACTGTTATATTGGAATCTGGACAAAGAAAACCCCAGTGGATGTTCAG___AATGCAAGTGCCATAAGGCGGGAACAGTGAGTGGAACTGGAGAGTGTAGGCAG___GGAGATGGTGACTGTCACTGCAAGTCCCATGTGGGTGGCGATTCCTGCGACACCTGTGAAGATGGATATTTTGCTTTGGAAAAGAGCAATTACTTTGGGTGTCAAG___GGTGTCAGTGTGACATTGGTGGGGCATTGTCCTCCATGTGCAGTGGGCCCTCGGGAGTGTGCCAGTGCCGAGAGCATGTCGTGGGAAAGGTGTGCCAGCG___GCCTGAAAACAACTACTATTTCCCAGATTTGCATCATATGAAGTATGAGATTGAAGACGGCAGCACACCTAATGGGAGAGACCTTCGATTTGGATTTGATCCGCTGGCATTTCCTGAGTTTAGCTGGAGAGGATATGCCCAAATGACCTCAGTACAG___AATGATGTAAGAATAACATTGAATGTAGGGAAGTCAAGTGGCTCCTTGTTTCGTGTTATTCTGAGATACGTTAACCCTGGAACTGAAGCAGTATCTGGCCATATAACTATTTATCCATCCTGGG___GTGCTGCTCAAAGCAAAGAGATCATCTTCCTGCCGAGTAAGGAGCCAGCCTTTGTCACTGTCCCTGGAAATGGTTTTGCAGACCCATTTTCAATCACACCAGGAATATGGGTTGCTTGTATTAAGGCAGAAGGAGTCCTTCTG___GATTACCTGGTGCTGCTCCCCAGGGACTACTATGAAGCCTCTGTACTGCAGCTGCCAGTCACAGAACCATGTGCCTACGCAGGACCTCCCCAAGAAAA___TTGCTTACTCTACCAGCATTTGCCAGTGACCAGATTCCCCTGTACCCTGGCTTGTGAGGCCAGACACTTCCTGCTTGATGGGGAGCCAAGACCCGTGGCAGTGAGGCAGCCCACACCTGCACACCCTGTCATGGTGGACCTCAGCGGGAGAGAG___GTGGAATTGCATCTGCGGCTGCGCATCCCACAGGTTGGCCACTACGTGGTTGTGGTCGAGTATTCCACGGAGGCAGCTCAGCTGTTTGTGGTTGATGTGAATGTGAAGAGCTCCGGGTCTGTTCTGGCAGGCCAGGTGAACATTTACAGCTGCAACTACAG___TGTTCTCTGCCGGAGTGCTGTGATTGATCACATGAGCCGCATCGCCATGTATGAGCTATTGGCAGATGCAGACATTCAGCTCAAGGGACACATGGCCCGATTCCTTCTG___CATCAAGTTTGTATCATACCTATTGAAGAATTCTCAGCTGAGTATGTGAGACCACAAGTCCACTGCATTGCCAGTTATGGGCGATTTGTCAATCAAAG___TGCCACCTGTGTCTCCTTGGCCCATGAAACTCCTCCAACAGCATTAATTTTGGATGTTCTAAGTGGCAGGCCTTTCCCTCACCTGCCCCAGCAGTCGTCACCTTCTGTTGATGTTCTTCCTGGGGTCACCTTGAAGGCACCGCAG___AATCAAGTGACCCTGAGAGGACGTGTACCACACCTGGGCCGATACGTCTTTGTCATCCATTTTTACCAAGCAGCGCACCCGACGTTTCCCGCGCAGGTGTCGGTGGATGGCGGGTGGCCACGGGCAG___GCTCCTTCCATGCCTCTTTTTGCCCCCATGTGCTTGGCTGCCGGGATCAAGTGATTGCCGAAGGCCAGATTGAGTTTGACATCTCAGAGCCTGAAGTGGCCGCAACTGTGAAGGTTCCAGAAGGAAAGTCCTTGGTTTTG___GTCCGTGTTCTAGTGGTGCCTGCAGAAAACTATGACTACCAAATACTTCACAAAAAATCCATGGACAAGTCACTCGAGTTTATCACCAATTGTGGAAAAAACAGCTTTTACCTTGA___CCCCCAGACAGCCTCCAGATTCTGTAAGAATTCCGCCAGGTCCCTGGTGGCCTTTTACCACAAGGGCGCCCTGCCTTGTGAGTGCCACCCCACTGGGGCCACCGGCCCTCACTGCAGCCCTGAGGGTGGGCAGTGCCCATGCCAGCCCAACGTCATCGGGCGGCAGTGCACCCGCTGTGCAACAGGCCACTACGGATTCCCACGCTGCAAGC___CGTGCAGCTGTGGTCGGCGCCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGCCCTCCCCGCACGGTCAGGCCCCAGTGTGAGGTGTGTGAGACACACTCATTCAGCTTCCACCCCATGGCCGGCTGCGAAGGCTGCAACTGTTCCAGGAGGGGCACCATCGAGGCTGCCATGCCGGAGTGTGACCGGGACAGCGGGCAGTGCAG___ATGCAAGCCCAGAATCACAGGGCGGCAGTGTGACCGATGTGCTTCCGGGTTTTACCGCTTTCCTGAGTGTGTTCCCTGCAATTGCAACAGAGATGGGACTGAGCCAGGAGTGTGTGACCCAGGGACCGGGGCTTGCCTCTGCAAG___GAAAATGTAGAAGGCACAGAGTGTAATGTGTGTCGAGAAGGCTCATTCCATTTGGACCCAGCCAATCTCAAGGGTTGTACCAGCTGTTTCTGTTTTGGAGTAAATAATCAATGTCACAGCTCACATAAGCGAAGGACTAAG___TTTGTGGATATGCTGGGCTGGCACCTGGAGACAGCAGACAGAGTGGACATCCCTGTCTCTTTCAACCCAGGCAGCAACAGTATGGTGGCGGATCTCCAGGAGCTGCCCGCAACCATCCACAGCGCGTCCTGGGTCGCACCCACCTCCTACCTGGGGGACAAG___GTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACT___GGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAG___GGAAACTTCAGACATGCCAGCAGCCGTGCCCCAGTGTCTAGGGAGGAGCTGATGACAGTGCTGTCTAGACTGGCAGATGTGCGCATCCAAGGCCTCTACTTCACAGAGACTCAAAGGCTCACCCTGAGCGAGGTGGGGCTAGAGGAAGCCTCTGACACAGGAAGTGGGCGCATAGCACTTGCTGTGGAAATCTGTGCCTGCCCCCCTGCCTACGCTGGTGACTCTTGTCAG___GGTTGTAGCCCTGGATACTATCGGGATCATAAAGGCTTGTATACCGGACGGTGTGTTCCCTGCAATTGCAACGGACATTCAAATCAATGCCAGGATGGCTCAGGCATATGTGTT___AACTGTCAGCACAACACCGCGGGAGAGCACTGTGAACGCTGCCAGGAGGGCTACTATGGCAACGCCGTCCACGGATCCTGCAGGGCCTGCCCATGTCCTCACACTAACAG___CTTTGCCACTGGCTGTGTGGTGAATGGGGGAGACGTGCGGTGCTCCTGCAAAGCTGGGTACACAGGAACACAGTGTGAAAG___GTGTGCACCGGGATATTTCGGGAATCCCCAGAAATTCGGAGGTAGCTGCCAACCATGCAGTTGTAACAGCAATGGCCAGCTGGGCAGCTGTCATCCCCTGACTGGAG___ACTGCATAAACCAAGAACCCAAAGATAGCAGCCCTGCAGAAGAATGTGATG___ATTGCGACAGCTGTGTGATGACCCTCCTGAACGACCTGGCCACCATGGGCGAGCAGCTCCGCCTGGTCAAGTCTCAGCTGCAGGGCCTGAGTGCCAGCGCAGGGCTTCTGGAGCAGATGAGGCACATGGAGACCCAGGCCAAGGACCTGAGG___AATCAGTTGCTCAACTACCGTTCTGCCATTTCAAATCATGGATCAAAAATAGAAGGCCTGGAAAGAGAACTGACTGATTTGAATCAAGAATTTGAGACTTTGCAAGAAAAG___GCTCAAGTAAATTCCAGAAAAGCACAAACATTAAACAACAATGTTAATCGGGCAACACAAAGCGCAAAAGAACTGGATGTGAAGATTAAAAATGTCATCCGGAATGTGCACA___TTCTTTTAAAGCAGATCTCTGGGACAGATGGAGAGGGAAACAACGTGCCTTCAGGTGACTTTTCCAGAGAGTGGGCTGAAGCCCAGCGCATGATGAGGGAACTGCGGAACAGGAACTTTGGAAAGCACCTCAGAGAAGCAGAAGCTGATAAAAGGGAGTCGCAGCTCT___TGCTGAACCGGATAAGGACCTGGCAGAAAACCCACCAGGGGGAGAACAATGGGCTTGCTAACAGTATCCGGGATTCTTTAAATGAATACGAAGCCAAACTCAGTGACCTTCGTGCTCGGCTGCAGGAGGCAGCTGCCCAAGCCAAGCAGGCAAATGGCTTGAACCAAGAAAACGAGAGAGCTTTGGGAGCCATTCAG___AGACAAGTGAAAGAAATAAATTCCCTGCAGAGTGATTTCACCAAGTATCTAACCACTGCAGACTCATCTTTGTTGCAAACCAACATTGCGCTGCAGCTGATGGAGAAAAGCCAGAAG___GAATATGAAAAATTAGCTGCCAGTTTAAATGAAGCAAGACAAGAACTAAGTGACAAAGTAAGAGAACTTTCCAGATCTGCTGGCAAAACATCCCTTGTGGAGGAGGCAGAAAAGCACGCGCGGTCCTTACAAGAGCTGGCAAAGCAGCTGGAAGA___GATCAAGAGAAACGCCAGCGGGGATGAGCTGGTGCGCTGTGCTGTGGATGCCGCCACCGCCTACGAGAACATCCTCAATGCCATCAAAGCGGCCGAGGACGCAGCCAACAGGGCTGCCAGTGCATCTGAATCTGCCCTCCAG___ACAGTGATAAAGGAAGATCTGCCAAGAAAAGCTAAAACCCTGAGTTCCAACAGTGATAAACTGTTAAATGAAGCCAAGATGACACAAAAGAAGCTAAAGCAAG___AAGTCAGTCCAGCTCTCAACAACCTACAGCAAACCCTGAATATTGTGACAGTTCAGAAAGAAGTGATAGACACCAATCTCACAACTCTCCGAGATGGTCTTCATGGGATACAGAGAG___GTGATATTGATGCTATGATCAGTAGTGCAAAGAGCATGGTCAGAAAGGCCAACGACATCACAGATGAGGTTCTGGATGGGCTCAACCCCATCCAGACAGATGTGGAAAGAATTAAGGACACCTATGGGAGGACACAGAACGAAGACTTCAAAAAGGCTCTGACTGATGCAGATAACTCGG___TGAATAAGTTAACCAACAAACTACCTGATCTTTGGCGCAAGATTGAAAGTATCAACCAACAGCTGTTGCCCTTGGGAAACATCTCTGACAACATGGACAGAATACGAGAACTAATTCAGCAGGCCAGAGATGCTGCCAGTAAG___GTTGCTGTCCCCATGAGGTTCAATGGTAAATCTGGAGTCGAAGTCCGACTGCCAAATGACCTGGAAGATTTGAAAGGATATACATCTCTGTCCTTGTTTCTCCAAAGGCCCAACTCAAGAGAAAATGGGGGTACTGAGAATATGTTTGTGATGTACCTTGGAAATAAAGAT___GCCTCCCGGGACTACATCGGCATGGCAGTTGTGGATGGCCAGCTCACCTGTGTCTACAACCTGGGGGACCGTGAGGCTGAACTCCAAGTGGACCAGATCTTGACCAAGAGTGAGACTAAGGAGGCAGTTATGGATCGGGTGAAATTTCAGAG___AATTTATCAGTTTGCAAGGCTTAATTACACCAAAGGAGCCACATCCAGTAAACCAGAAACACCCGGAGTCTATGACATGGATGGTAGAAATAGCAATACACTCCTTAATTTGGATCCTGAAAATGTTGTATTTTATGTTGGAGGTTACCCACCTGATTTTAAA___CTTCCCAGTCGACTAAGTTTCCCTCCATACAAAGGTTGTATTGAATTAGATGACCTCAATGAAAATGTTCTGAGCTTGTACAACTTCAAAAAAACATTCAATCTCAACACAACTGAAGTGGAGCCTTGTAGAAG___GAGGAAGGAAGAGTCAGACAAAAATTATTTTGAAGGTACGGGCTATGCTCGAGTTCCAACTCAACCACATGCTCCCATCCCAACCTTTGGACAGACAATTCAGACCACCGTGGATAGAGGCTTGCTGTTCTTTGCAGAAAACGGG___GATCGCTTCATATCTCTAAATATAGAAGATGGCAAGCTCATGGTGAGATACAAACTGAATTCAGAGCTACCAAAAGAGAGAGGAGTTGGAGACGCCATAAACAACGGCAGAGACCATTCG___ATTCAGATCAAAATTGGAAAACTCCAAAAGCGTATGTGGATAAATGTGGACGTTCAAAACACTATAATTGATGGTGAAGTATTTGATTTCAGCACATATTATCTGGGAGGAATTCCAATTGCAATCAGGGAAAG___ATTTAACATTTCTACGCCTGCTTTCCGAGGCTGCATGAAAAATTTGAAGAAAACCAGTGGTGTCGTTAGATTGAATGATACTGTGGGAGTAACCAAAAAGTGCTCGGAAGACTGGAAG___CTTGTGCGATCTGCCTCATTCTCCAGAGGAGGACAATTGAGTTTCACTGATTTGGGCTTACCACCTACTGACCACCTCCAGGCCTCATTTGGATTTCAGACCTTTCAACCCAGTGGCATATTATTAGATCATCAGACATGG___ACAAGGAACCTGCAGGTCACTCTGGAAGATGGTTACATTGAATTGAGCACCAGCGATAGCGGCGGCCCAATTTTTAAATCTCCACAGACGTATATGGATGGTTTACTGCATTATGTATCTGTAATAAGCGACAACTCTGG___ACTACGGCTTCTCATCGATGACCAGCTTCTGAGAAATAGCAAAAGGCTAAAACACATTTCAAGTTCCCGGCAGTCTCTGCGTCTGGGCGGGAGCAATTTTGAGGGTTGTATTAGCAATGTTTTTGTCCAGAG___GTTATCACTGAGTCCTGAAGTCCTAGATTTGACCAGTAACTCTCTCAAGAGAGATGTGTCCCTGGGAGGCTGCAGTTTAAACAAACCACCTTTTCTAATGTTGCTTAAAGGTTCTACCAGGTTTAACAAGACCAAGACTTTTCGTATCAACCAG___CTGTTGCAGGACACACCAGTGGCCTCCCCAAGGAGCGTGAAGGTGTGGCAAGATGCTTGCTCACCACTTCCCAAGACCCAGGCCAATCATGGAGCCCTCCAGTTTGGGGACATTCCCACCAGCCACTTGCTATTCAAGCTTCCTCAGGAGCTGCTGAAACCCAG___GTCACAGTTTGCTGTGGACATGCAGACAACATCCTCCAGAGGACTGGTGTTTCACACGGGCACTAAGAACTCCTTTATGGCTCTTTATCTTTCAAAAGGACGTCTGGTCTTTGCACTGGGGACAGATGGGAAAAAATTGAGGATCAAAAGCAAGGAGAAATGCAATGATGGGAAATGGCACACG___GTGGTGTTTGGCCATGATGGGGAAAAGGGGCGCTTGGTTGTGGATGGACTGAGGGCCCGGGAGGGAAGTTTGCCTGGAAACTCCACCATCAGCATCAGAGCGCCAGTTTACCTGGGATCACCTCCATCAGGGAAACCAAAG___AGCCTCCCCACAAACAGCTTTGTGGGATGCCTGAAGAACTTTCAGCTGGATTCAAAACCCTTGTATACCCCTTCTTCAAGCTTCGGGGTGTCTTCCTGCTTGGGTGGTCCTTTGGAGAAAGGCATTTATTTCTCTGAAGAAGGAGGTCATGTCGTCTTGG___CTCACTCTGTATTGTTGGGGCCAGAATTTAAGCTTGTTTTCAGCATCCGCCCAAGAAGTCTCACTGGGATCCTAATACACATCGGAAGTCAGCCCGGGAAGCACTTATGTGTTTACCTGGAGGCAGGAAAG___GTCACGGCCTCTATGGACAGTGGGGCAGGTGGGACCTCAACGTCGGTCACACCAAAGCAGTCTCTGTGTGATGGACAGTGGCACTCGGTGGCAG___TCACCATAAAACAACACATCCTGCACCTGGAACTGGACACAGACAGTAGCTACACAGCTGGACAGATCCCCTTCCCACCTGCCAGCACTCAAGAGCCACTACACCTTGGAGGTGCTCCAG___CCAATTTGACGACACTGAGGATCCCTGTGTGGAAATCATTCTTTGGCTGTCTGAGGAATATTCATGTCAATCACATCCCTGTCCCTGTCACTGAAGCCTTGGAAGTCCAGGGGCCTGTCAGTCTGAATGGTTGTCCTGACCAGTAACCCAAGCCTATTTCACAGCAAGGAAATTCACCTTCAAAAGCACTGATTACCCAATGCACCTCCCTCCCCAGCTCGAGATCATTCTTCACTCAGGACACAAACCAGACAGGTTTAATAGCGAATCTAATTTTGAATTCTGACCATGGATACCCATCACTTTGGCATTCAGTGCTACATGTGTATTTTATATAAAAATCCCATTTCTTGAAGATAAAAAAATTGTTATTCAAATTGTTATGCACAGAATGTTTTTGGTAATATTAATTTCCACTAAAAAATTAAATGTCTTTTAAGAAACATTCTTTTCCACTTGTTAAAAAAATTAAATATATTTTAAAGCACTTTAAGAATATGAAACTTTCATATATGTTAAAGGATTATAATTTATGGAATTAAAAAATGCAGTGTAGTCCTTAAA)$ MAAAAAAATTAACSSGSAGTDAAGASGLQQPPPQPQPQPAAAAPAQPPPEPPRKPRMDPRRRQAALSFLTNISLDGRLPPQDAEWGGGEEGGAAKPGAGGACGARTRFSLLAAAERGGCIALAAPGTPAAGLAAGSGPCLPQPSSLPPLIPGGHATVSGPGVARGFASPLGAGRASGEQWQPPRPAPLAACAQLQLLDGSGAAGQEELEEDDAFISVQVPAAAFLGSGTPGSGSGSRGRLNSFTQGILPIAFSRPTSQNYCSLEQPGQGGSTSAFEQLQRSr|ssmwpif* 05BR003 ENSG00000136237.19 ENSG00000173852.14 -/- -/- chr7:22154455 chr7:35018596 CDS/splice-site CDS/splice-site duplication 1 2 0 45 16 high in-frame . RasGEF_N-terminal_motif(100%),RasGEF_domain(100%)|Q-cell_neuroblast_polarisation(100%) . . ENSG00000136237.19 ENSG00000173852.14 ENST00000665637.1 ENST00000310974.8 upstream downstream . ^(AGTCGCGCCCTCTCGCTTCCTGGCGAAGGCGCGGACGGCGCGCGGAGGCGAGCGCGGTGGAGAGGAGCCCCCGGCGCCGCAGCGCCGTCAGGGCATGAGGATGGCCGTGGGCTCCGTCAAGATGCAGCCGCCGTGCGAGAGCCCGGCCCTGGCCGCCGCGGCGGCGGTGGTGGCGGCAGACGGCCCCCTGCGCCGCAGCCCCAGCGCCCGGGAGCCCGAGCGCGAGCAGCCGCCGGCGTCGCTGCGGCCGCGGCTGAGGGACCTGCCCGCGCTGCTGCGGAGCGGGCTCACGCTGCGGAGGAAGCGGAGCGCCGCTGGGGGCCGG___ACTCTATCAAGAAGAATATCTAATCCGTACCTTGAACATACGCCTTCCCAG___ATTTATGGAGAGAATTCTTCTTGTGCAGGAAGAGCATTGAGGAATATTATTATCGTTCAAGCAGCTGACCTGATAAAGGACAGAGTGAACCTCAAGGGGTTTTACAG___GAGGAGCTGCGTTGGGTCAGAGCTGGTAGACTGGCTTCTAGAACACTGTCCTTTCGTCCAGTGCAGATCTATGGCCATAGGAGTCTGGCAACTCCTACTGGACATGGGAATTATGTTATCAG___TGGACCAGCATCTATACTTTCAAGATACTTATGTTTTCTACCAGTTTTCCTCTGATGAATGTAGCTACTTGTACTGTGAATTTGAAAGAGAAGAAGAATGGCAAAATGGTGTCAAGCTTTTACTGCAACTTGTGCCTCTCATTCCTGCCAGAGGTGGCATCTGTGAACT___GTCTCATCAGAAAATTGAAGACTCCGAAGAAAGCAGTGATGAAATTCTTGTGCGTCTAACATCTGCG___GTGCAGAGAGAGCTAGCAGCTGTTATTGCTTTGAAAGCAAGGAAGTCTG___CAATTGAACAAGATGAAGAAAACAACGACAAACATGTAGCTGTAACAGAAGCCGAAAGTGTTCCAGATTCTCAG___GCAGGGGTGATGTGCAAGCTCCAGGAAAGAGATGAAATCGGACGAATTGAACTAGTCCAGAAGCTGGCAAAAGAAAACTATCAGTTTTTGCAGACGGACAAAAAAGAACAGGAGAAGTCTGAACAC___CAAGATGATGAAGTGACGACTGTTCAGGTTAAAGAGCAAGACCAGAGCGTCCTGGTGCTGAAGAAAGTGCAGTGCTGTGGCCCAGCCCCCACAGCTGGGAGTGCGGAGAGCCATTGGAG___ATATGTGGTGGTGTCCGGGACCCCGGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTGGAAGAAGTCCAGGACAAAGAAACAG___AGACCCTCCTGGATGACTTCCTTCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCCAGGCTCTGTTAAGGCA___CTATTCTGCTAAGAAGTATCAAGGCAAAGAGGAAAACTCAGACGTTCCGCGTAGGAAACGTAAAGTCTTGCATCTTGTTTCCCAGTGGATTGCTCTGTACAAAGACTGGTTACCTGAAGATGAACATTCAAAAATGTTTTTAAAG___ACCATATATAGGAATGTACTGGATGATGTTTATGAATATCCAATACTTGAAAAAGAATTGAAAGAATTTCAAAAGATACTTGGAATGCACCGTCGTCA___CACTGTAGATGAATATTCACCACAAAAAAAG___AATAAAGCCCTTTTCCACCAATTCAGTCTTAAGGAGAACTGGCTCCAGCATAGAGGAACTGTGACTGAAACGGAGGAAA___TTTTCTGCCACGTGTATATAACAGAGCACTCCTATGTCAGTGTGAAGGCAAAAGTTTCCAGTATAGCCCAAGAGATCCTAAAAGTCGTGGCAG)AAAAGATCCAGTATGCAGAAGAGGATCTGGCTCTGGTGGCCATCACATTCTCTGGGG|CTGTTTTTGCAGCAGTGTTGCACTG___GAGCCATATAACACACCTCTTTGAAAATGACCGTCATTTTTCTCACCTCTCAACATTGGAAAGGGAGATGGCTTTTCGCACTGAAATG(___GGACTATATTATTCCTATTTCAAGACTATTGTGGAAGCACCCTCATTTTTGAATGGAGTATGGATGATTATGAATGATAAACTGACTGAATACCCCCTTGTCATTAATACATTAAAAAGATTCAATCTTTACCCTGAG___GTAATTTTGGCCAGTTGGTACCGGATTTATACCAAAATAATGGACTTGATTGGTATTCAAACCAAGATATGTTGGACGGTTACCAGAGGAGAAGGACTCAGTCCTATTGAAAGCTGTGAAG___GATTGGGAGATCCTGCTTGCTTTTATGTTGCTGTAATTTTTATTTTAAATGGACTAATGATGGCATTATTCTTCATATATGGCACATATTTAAG___TGGCAGCCGATTAGGAGGCCTGGTTACAGTGTTGTGCTTCTTTTTCAATCATGGAGAG___TGTACCCGTGTAATGTGGACACCACCTCTCCGTGAAAGCTTCTCATATCCATTTCTTGTTCTTCAGATGTTGCTAGTGACTCATATTCTCAG___GGCTACAAAACTTTATAGAGGAAGCTTGATTGCACTCTGCATTTCCAATGTATTTTTCATGCTTCCTTGGCAGTTTGCTCAGTTTGTACTTCTTACTCAG___ATTGCATCATTATTTGCAGTATATGTTGTCGGGTACATTGATATATGTAAATTACGGAAGATCATTTATATACACATG___ATTTCTCTTGCACTTTGTTTTGTTTTGATGTTTGGGAACTCAATGTTATTAACTTCTTATTATGCTTCTTCTTTGGTAATTATTTGG___GGTATTCTGGCAATGAAACCACATTTCCTGAAAATAAATGTATCTGAACTTAGTTTATGG___GTTATTCAAGGATGTTTTTGGTTATTTGGAACTGTCATACTTAAATACTTGACATCTAAAATTTTTGGTATTGCAGATGAC___GCTCATATTGGCAACTTACTAACATCAAAATTCTTTAGTTATAAGGATTTTGATACTTTATTGTATACCTGTGCAGCGGAGTTTGACTTTATGGAAAAAGAG___ACTCCACTGAGATACACAAAGACATTATTGCTTCCAGTTGTTCTTGTAGTGTTTGTTGCTATTGTTAGAAAG___ATTATTAGTGATATGTGGGGTGTCTTAGCTAAACAACAGACACATGTAAG___AAAACACCAGTTTGATCATGGAGAG___CTGGTTTACCATGCATTGCAATTGTTAGCATATACAGCCCTTGGTATTTTAATTATGAGACTAAAACTCTTCTTGACACCACACATGTGTGTTATGGCATCACTGATCTGCTCAAGACAG___CTATTTGGATGGCTCTTTTGCAAAGTACATCCTGGTGCTATTGTGTTTGCTATATTAGCAGCAATGTCAATACAAGGTTCAGCAAATCTGCAAACCCAGTGGAATATTGTAGGGGAGTTCAGCAATTTGCCCCAAGAAGAACTTATAGAATGGATCAAATATAGTACTAAACCAG___ATGCAGTGTTTGCGGGTGCCATGCCCACGATGGCAAGTGTTAAGCTCTCTGCACTTCGGCCCATTGTGAATCATCCACATTATGAAGACGCAGGCTTGAG___AGCCAGAACAAAAATAGTATACTCAATGTATAGTCGGAAAGCAGCCGAAGAAGTGAAGCGAGAACTGATAAAGTTAAAAGTGAACTATTACATTCTAGAAGAGTCATGGTGTGTAAGAAGATCCAA___GCCTGGTTGCAGTATGCCTGAAATTTGGGATGTAGAAGATCCTGCCAATGCTGGGAAAACTCCCTTATGTAACCTCTTGGTGAAGGATTCCAAACCTCACTTCACCACTGTATTCCAGAACAGTGTTTACAAAGTCCTAGAAGTTGTAAAAGAATGACTGCTACATGACCTGCTGCCTACGGAGAACTACATCTGTAATGGTTTTAATGTTTTGCTAAGTCATGTGTTGTTCATATCCCAAAAACTTTTATAGGTAACTGTTTTCAAATAGAAAACGTTTTATTTGGTCAATTTGAATGTCATTCTAATTATAAAAATGACTTACACCTTTATCAATTGGTTACTATTTCAATGCACCCTTTAAAATTTGCTATGCAAATGAGTATATGCTTGTACTTGACTTTAATATTTGTGCTAAAGTGAGCAAAGCTACCTGTATAAAGAAAACACAGTGGGTTGTGACAAGGATGACATGAAAATACAGGACAATTCTGACAATGTAGGGGCTGATTTTATAGTGTAAGAACTATTAATGCCCCTTGCTTCTTTTTTCTGCCTCTTGCTCTTGTCTTTTGGACATTTCAGTGATTGTAAGTTCTTCGGTCATGTCAGCCCCTGTCATCAACTTGAGTTACAGTAGATGGGGCAGACATGGAGTGTTTGCTATATAGAACTATCTGTTTGTTTTACTTCCTTGTGCGCTTTTTGTTCTCTGTTCTCTTGTTAATGAAGCTTTTCCTGCCCATTATTAATCCAAACTCTTGGACCTTGTGGTTAGGAAATTCCCTTAACTTCCAGCCATATGGCATTATCGTGTCTCTTTCTCTCTCTCTCTTGCTCTCTCTCTTCTCCTCTTCCCCATATTTTCTGTCAAATAAGTACTGTTTACTCATTTAGTTGCTTATCAAGTACTTATTCTTGGTTTTAAAAAAAATTAATGGTAACTGTATTTTTCTCATTTTTAGCATTATTCAAATGTTTATATTTTAATACCTTTAAACCACTTTAAAGTTTTTTCATGTTTAATTATAGTTTTAAGAAAAACTATTTTGAACAACCCCAAATATAGTGCATCTAGAAACTAATGTATATTTGATTAGACATCATTTATAGTGGAACAGTAGACTGTAGTACATGGTAATTTTTCTTTTACTATTAAGATACAATAAAACATGACTAATTTTGCTGTCAAAAATGTAAAGAATAATGATAAATGGAGTTTTTATATTTTACTTTTAAGATTGCCTGTCTTTAATAAGACAAAGCCTTAAGCCTTATGTTATAATTTTGGTTCTAAAAACCATCATTTCAGTATAAGGAATAAGTATATTTCGTCCTCCTCTTTAGTTTTTTTCTTCCTATTTATTTTTATTTTGAAAAATTTCTACACCTTCTTTGAATTCCTTGTATGAATTTTTGTTTCTTAGAAGTTAATTTGTGTGAAATGAGATTCTTCAAAACGATGAAACCTCATAGCTCTGAGAAAAGGTTTTAGGGTTTTAAATTCTAAGCAAAGCGTGACTATGGCTGACAGACTACACATTTAATTATACAGCTTCTCTTTCTTAACCACAGGCAGATTAACCTCATTGTGGATTGTCCTTCAGACCTTAGTCCTCAGGCATGGTTTCTGGTGCCCACTCCTGGAAGCCGCTGTTCCCTTTCTACCTTCTTACCAGAGCCCAAGGGCAGGCCTGGTCCCGGGGAAGCAGCAGCTTGCTGACATAAGTCAGCTGCAAAGGCTGAGGAGTGTGCCCTCAGAGAAGCACCGCCCCCCAGTCTTGTGCCAGCGCCTAGAGCCGCAGCTCCCAGGGATGCTCCTTCCCTGGAGGCAGCCCAGGAGAGGGACTCTGGCAGCGTTCTTCAGATTTGTGGCCACTGTTTCTCATTTGCTGGTTGACTGTTTTTATTTCTTAGGCTTTTGCTAGTTTTAGAAAATAGGGAAGCAGCCCTTGATTTGTGGATTAAAAGCAACATTTGAGCGATGATGCACAACAGTCCAGGAAAATGGGCGGTGGACACTTGAGGCTGAGGATGGGAGTTGACATGAGCAGGGAGAGGGAGGTGCGCGCTGCTTATCTGTGATTGTTGCTCACCTGAGTGTGGCTGATTGTGTACATCCAGCAGTTACAATTTTTAAAAATTATACTTTTACATTTATTTTATATTTTTCTCACCCCCAGTAATTTCCTTCCAAAGAAGTTCACATGTAATAAGTAGAAATTCTGTATAGGAAAAAAGCATTAAAAATACTATTATAACTGCTTCATTTGCTGGGAACCATTAAAAGTAATATAAATTAGCTTTTTCCAGAAGGATCCTTTTGTAGCAGTGTTTATGAATGTAACCCCCAGCAAAATATGGCTATATATTAGGGGAGCCAGTTTGGAGCAGAGGCCTGAAGGTCCCTGCTATGCAGCCGTGGCCACAGCTCGCAGCCCAAGCACTGTGGAGCATCCACACCTTTGATGGCAATGCAGATTGGTAGCAGGTTCCATAGGCGTACAAAACAGTATTAAAGCTCAGTGTTTTGCATATTGTTAGCATTTACAAATATTTTTGCTTTAGTATGAGGAAAGTAAGGATGGGCAAAGAAGCGATCAAAATAGCTATTGCTACAACATTTTCGAAAACAAAGTTGGGGCTGTATTTCTTTAAAAAGATAAGCCTCTAAAAATGCTTGGCAAAAAAAATATAGTGTTAAAATAGGCCAGTGATATTAATGAGAAAATGAAAGTATGTATCAGGAATAAAGTGATATTGCATAGGAGTATTGTATTTTTATGAATTTTATGCCAGTTGTTTACATGTACTATATATGTTAAATTAAAAAAAATCATGAGTAATGAGGGAA)$ MRMAVGSVKMQPPCESPALAAAAAVVAADGPLRRSPSAREPEREQPPASLRPRLRDLPALLRSGLTLRRKRSAAGGRTLSRRISNPYLEHTPSQIYGENSSCAGRALRNIIIVQAADLIKDRVNLKGFYRRSCVGSELVDWLLEHCPFVQCRSMAIGVWQLLLDMGIMLSVDQHLYFQDTYVFYQFSSDECSYLYCEFEREEEWQNGVKLLLQLVPLIPARGGICELSHQKIEDSEESSDEILVRLTSAVQRELAAVIALKARKSAIEQDEENNDKHVAVTEAESVPDSQAGVMCKLQERDEIGRIELVQKLAKENYQFLQTDKKEQEKSEHQDDEVTTVQVKEQDQSVLVLKKVQCCGPAPTAGSAESHWRYVVVSGTPEKILEHLLNDLHLEEVQDKETETLLDDFLLTYTVFMTTDDLCQALLRHYSAKKYQGKEENSDVPRRKRKVLHLVSQWIALYKDWLPEDEHSKMFLKTIYRNVLDDVYEYPILEKELKEFQKILGMHRRHTVDEYSPQKKNKALFHQFSLKENWLQHRGTVTETEEIFCHVYITEHSYVSVKAKVSSIAQEILKVVAEKIQYAEEDLALVAITFSG|aVFAAVLHWSHITHLFENDRHFSHLSTLEREMAFRTEMGLYYSYFKTIVEAPSFLNGVWMIMNDKLTEYPLVINTLKRFNLYPEVILASWYRIYTKIMDLIGIQTKICWTVTRGEGLSPIESCEGLGDPACFYVAVIFILNGLMMALFFIYGTYLSGSRLGGLVTVLCFFFNHGECTRVMWTPPLRESFSYPFLVLQMLLVTHILRATKLYRGSLIALCISNVFFMLPWQFAQFVLLTQIASLFAVYVVGYIDICKLRKIIYIHMISLALCFVLMFGNSMLLTSYYASSLVIIWGILAMKPHFLKINVSELSLWVIQGCFWLFGTVILKYLTSKIFGIADDAHIGNLLTSKFFSYKDFDTLLYTCAAEFDFMEKETPLRYTKTLLLPVVLVVFVAIVRKIISDMWGVLAKQQTHVRKHQFDHGELVYHALQLLAYTALGILIMRLKLFLTPHMCVMASLICSRQLFGWLFCKVHPGAIVFAILAAMSIQGSANLQTQWNIVGEFSNLPQEELIEWIKYSTKPDAVFAGAMPTMASVKLSALRPIVNHPHYEDAGLRARTKIVYSMYSRKAAEEVKRELIKLKVNYYILEESWCVRRSKPGCSMPEIWDVEDPANAGKTPLCNLLVKDSKPHFTTVFQNSVYKVLEVVKE* 05BR003 ENSG00000131873.7 ENSG00000277654.6 -/- +/- chr15:101235082 chr15:94882668 CDS/splice-site intron deletion/5'-5' 2 1 0 75 3 high out-of-frame . Chondroitin_N-acetylgalactosaminyltransferase(100%)| . . ENSG00000131873.7 ENSG00000277654.6 ENST00000254190.4 . upstream downstream . ^(ATTCACTTTTGCGCCAATCGCGCGGCGCGGACGGATCCCGAGAGGGGCCACGGCTCGCCGCCGGCGGGGCCACTTCATAACGCGCCGTGCGTGACGTGAGGGGCTCCTGTTGCAATGGCGAGCTAAGCCGGAGGATGTGCAGCTGCGGCGGCGGCGCCGGCTACGAAGAGGACGGGGACAGGCGCCGTGCGAACCGAGCCCAGCCAGCCGGAGGACGCGGGCAGGGCGGGACGGGAGCCCGGACTCGTCTGCCGCCGCCGTCGTCGCCGTCGTGCCGGCCCCGCGTCCCCGCGCGCGAGCGGGAGGAGCCGCCGCCACCTCGCGCCCGAGCCGCCGCTAGCGCGCGCCGGGCATGGTCCCCTCTTAAAGGCGCAGGCCGCGGCGGCGGGGGCGGGCGTGCGGAACAAAGCGCCGGCGCGGGGCCTGCGGGCGGCTCGGGGGCCGCGATGGGCGCGGCGGGCCCGCGGCGGCGGCGGCGCTGCCCGGGCCGGGCCTCGCGGCGCTAGGGCGGGCTGGCCTCCGCGGGCGGGGGCAGCGGGCTGAGGGCGCGCGGAGCCTGCGGCGGCGGCCCGGCGGGCGGAGCGGCGCGGGCATGGCCGCGCGCGGCCGGCGCGCCTGGCTCAGCGTGCTGCTCGGGCTCGTCCTGGGCTTCGTGCTGGCCTCGCGGCTCGTCCTGCCCCGGGCTTCCGAGCTGAAGCGAGCGGGCCCACGGCGCCGCGCCAGCCCCGAGGGCTGCCGGTCCGGGCAGGCGGCGGCTTCCCAGGCCGGCGGGGCGCGCGGCGATGCGCGCGGGGCGCAGCTCTGGCCGCCCGGCTCGGACCCAGATGGCGGCCCGCGCGACAGGAACTTTCTCTTCGTGGGAGTCATGACCGCCCAGAAATACCTGCAGACTCGGGCCGTGGCCGCCTACAG___AACATGGTCCAAGACAATTCCTGGGAAAGTTCAGTTCTTCTCAAGTGAGGGTTCTGACACATCTGTACCAATTCCAGTAGTGCCACTACGGGGTGTGGACGACTCCTACCCGCCCCAGAAGAAGTCCTTCATGATGCTCAAGTACATGCACGACCACTACTTGGACAAGTATGAATGGTTTATGAGAGCAGATGATGACGTGTACATCAAAGGAGACCGTCTGGAGAACTTCCTGAGGAGTTTGAACAGCAGCGAGCCCCTCTTTCTTGGGCAGACAGGCCTGGGCACCACGGAAGAAAT)GGGAAAACTGGCCCTGGAGCCTGGTGAGAACTTCTGCATGGGGGGGCCTGGCGTGATCATGAGCCGGGAGGTGCTTCGGAGAATGGTGCCGCACATTGGCAAGTGTCTCCGGGAGATGTACACCACCCATGAGGACGTGGAGGTGGGAAGGTGTGTCCGGAGGTTTGCAGGGGTGCAGTGTGTCTGGTCTTATGAG|GACAAGAACTCGGAACCCACTGGCAGATGGAAAGTAGCTGTACCACTGTAGCCCTCCTACCCTCCACCAGCGCCAAGCAGCTGCCCCACGTGACAGAAAGTGGCAGCAGGGCAGGGCCTGTCCAGGAGCTGTGGGCCAGAGCTGGGTGGCAGACTG MAARGRRAWLSVLLGLVLGFVLASRLVLPRASELKRAGPRRRASPEGCRSGQAAASQAGGARGDARGAQLWPPGSDPDGGPRDRNFLFVGVMTAQKYLQTRAVAAYRTWSKTIPGKVQFFSSEGSDTSVPIPVVPLRGVDDSYPPQKKSFMMLKYMHDHYLDKYEWFMRADDDVYIKGDRLENFLRSLNSSEPLFLGQTGLGTTEEMGKLALEPGENFCMGGPGVIMSREVLRRMVPHIGKCLREMYTTHEDVEVGRCVRRFAGVQCVWSYE|dknseptgrwkvavpl* 05BR003 ENSG00000100100.13 ENSG00000079308.19 -/- -/+ chr22:31289334 chr2:217951623 CDS intron translocation/5'-5' 17 17 3 127 63 medium out-of-frame . Kringle_domain(100%)| . . ENSG00000100100.13 ENSG00000079308.19 ENST00000215912.10 . upstream upstream mismatches(3) ^(AGTTCTAAAGAGAGGCTGTTTACCAGAACAGCATAACAAGGGCAGGTCTGACTGCAAGGCTGGGACTGGGAGGCAGAGCCGCCGCCAAGGGGGCCTCGGTTAAACACTGGTCGTTCAATCACCTGCAAGACGAAGGAGGCAAGGATGCTGTTGGCCTGGGTACAAGCATTCCTCGTCAGCAACATGCTCCTAGCAGAAGCCTATGGATCTGGAG___GCTGTTTCTGGGACAACGGCCACCTGTACCGGGAGGACCAGACCTCCCCCGCGCCGGGCCTCCGCTGCCTCAACTGGCTGGACGCGCAGAGCGGGCTGGCCTCGGCCCCCGTGTCGG___GGGCCGGCAATCACAGTTACTGCCGAAACCCGGACGAGGACCCGCGCGGGCCCTGGTGCTACGTCAGTGGCGAGGCCGGCGTCCCTGAGAAACGGCCTTGCGAGGACCTGCGCTGTCCAG___AGACCACCTCCCAGGCCCTGCCAGCCTTCACGACAGAAATCCAGGAAGCGT)CTGAAGGGCCAGGTGCAGATGAGGTGCAGGTGTTCGCTCCTGCCAACGCCCTGCCCGCTCGGAGTGAGGCGGCAGCTGTGCAGCCAGTGATTGGGATCAGCCAGCGGGTGCGGATGAACTCCAAGGAGAAAAAGGACCTGGGAACTCTGGGTATGACGGTC?CCCACCCCTGCCCTtGTTGGGATTCATCAAGAGATGTCATTTGCTGATTGTCTAGGGTGTGGCTAATGGGACCTTGTGTCCTATCCTTGGCAGGCTACGTGCTGGGCATTACCATGATGGTGATCATCATTGCCATCGGAGCTGGCATCATCT|GGCTCGCCCGCCCCTGCCTACACACCCCAGGCCCTCAGGGCTCACTCCCCATCCTCAAGGCGGCTCCCACCACTGGGGGAAACCTGCTTCCTGGAACCCTTGGTTTTGCTTCAGGGAACAAATCTCCCCAAAGCTTTATTCAACACACACACACACACAGCCACGCAATCACTGGAAGTCTCCCATAGTGGTAGCTTCACAGGCTAGACGTCCCCAGGTTTTTCAGTTTCTGTACTCTTCCACATGCCAGGTGCTCAGTGGTTCTTTCTCTGGTTCTGATCCTTTTCCAGTTGGCTCCATCCCATCTGTCCCTCACCCCTTC MLLAWVQAFLVSNMLLAEAYGSGGCFWDNGHLYREDQTSPAPGLRCLNWLDAQSGLASAPVSGAGNHSYCRNPDEDPRGPWCYVSGEAGVPEKRPCEDLRCPETTSQALPAFTTEIQEASEGPGADEVQVFAPANALPARSEAAAVQPVIGISQRVRMNSKEKKDLGTLgmtv?hpcpcwdssrdvic*lsrvwlmgpcvlslaGYVLGITMMVIIIAIGAGII|wlarpclhtpgpqgslpilkaapttggnllpgtlgfasgnkspqsfiqhththshaitgslp* 05BR003 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 11 10 0 252 57 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream low_entropy(2) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCATCGACAGGGAAAACTTCGTGGACATTGTTGATGCCAAG___TTGAAGATTCCTGTCTCTGGATCCAAATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGGCCCCTTTCAGAG___GTGGCACCTTGACGAGGTCTTTTTAGAGCTCAAGGATGGT)CAGCAGATTCCTGTGTTCAAGCTCAGTGGGGAAAACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCAcAGTGGACCTTTATTGTCTCCTGAGCACCCATTCTTTGTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCTCTTCCTCCAGAGTTGGAGCCTATGACACTGATGACACTGGCATGGAAAGCCAAAGCCCTACACCAACCAGCACACTTACTGGTTCC . 05BR003 ENSG00000162105.19 ENSG00000168040.5(48583),ENSG00000254721.1(48583) -/- ./- chr11:71118829 chr11:70255973 CDS/splice-site intergenic deletion 0 8 0 40 13 medium out-of-frame . N-terminal_or_F0_domain_of_Talin-head_FERM(100%)| . . ENSG00000162105.19 . ENST00000601538.5 . upstream downstream . ^(CTCTAGAATACAGACAGTTCCTGCTCTAAGAGGCCATCTGTGAGGCTCAGTCTCCCAACACCTCTG___ACACAGGCAGCCATGCCGCGCAGCCCAACATCCAGCGAGGACGAGATGGCCCAGAGCTTCTCCGACTACTCCGTGGGGTCGGAGTCAGACAGCTCCAAAGAAGAGACCATCTATGACACGATCCGGGCCACTGCGGAGAAGCCGGGCGGTGCCAGGACGGAGGAGAGCCAGGGCAACACGCTGGTGATCCGCGTGGTCATCCATGACCTGCAGCAGACG___AAATGCATTCGATTTAACCCGGATGCCACAGTGTGGGTTGCAAAGCAGCGGATCCTGTGTACATTAACCCAGAGTTTGAAAGAT)GTCCTGAACTACGGCCTGTTCCAGCCGGCCAGCAATGGGCGTGACGGCAAGTTCCTGGATGAGGAGCGGCTCCTGCGCGAGTACCCACAGCCCGTGGGTGAGGGCGTTCCTTCCCTGGAG|ACATTCTGGTGTGGAGCCACTTTATGCCAGGCACCGGGCCAGGTGCTGAGAGTACATCAATAAATCAAGACATCATAACACACAGTCTTGACGGCTAAACAGATGAAGAAGTAAAAAATATGTAAATCAAGACATCAGAACGCATAGTCTCGGTGGCTAAACAGATGAAGAAGC MPRSPTSSEDEMAQSFSDYSVGSESDSSKEETIYDTIRATAEKPGGARTEESQGNTLVIRVVIHDLQQTKCIRFNPDATVWVAKQRILCTLTQSLKDVLNYGLFQPASNGRDGKFLDEERLLREYPQPVGEGVPSLE|tfwcgatlcqapgqvlrvhq* 05BR003 ENSG00000230366.9 ENSG00000271368.1(130831),ENSG00000237064.1(64030) +/+ ./+ chr21:37216644 chr7:109895188 intron intergenic translocation 3 5 0 7 7 medium . . . . . ENSG00000230366.9 . ENST00000585273.5 . downstream upstream . ^(CTTCTACCCGGGGGCTCCAGTGCATCTGGCTTTATCTCTGGG___GTGCTTCCATACAAAGGGGACAGAAGAGATGATGGAAGGCCTCAGTACTGCAGGAGGGGAGACGGATGTCATCTACAATCACACAATACATGGGAGGTCACAG___GGTCTCGGGCCGGGTGCAGTGGCTCACTCCTCTAATCTCAGCACTTTGGGAAGCCGAG___GTCTACAACATCCAGAGCAGCCACATTG)CAAGTGCcCAGTAGCCACATGTGGCTGGCACATGTGGCCCATGGCAACTGTGCTGGACATGGTGGGTCCAGcCCTCACTTCATTTTATGTATAAACACCAAGTATCTTGTGAGCTTTACTGTACGTGAATTTCTCAGGAATGCTGTAACTGTGCACATTGAGGTTTGAGGTTTGATTGCCCTTTTGTTGTTTTTTTCTGAACGTTACTAAGG|CCAATACCCTCATATTTAAACCTTAGTCCATAGCTCTGCTCAGGTCATAATGGTGGATTCTGACGGATAGAATTAGCACAGGCTATGAATATCTTTAAGGCTCTAGACACATACTATGAAATTAGTTTCTAGAAAATCTGAGATAAATTATGTTGCCAATACTAAATATAGTTGTGCCTGTCTTCTGG...CACCAAATTACCACCAAaTaGAGGCATAAAACAATACTCTTATTATCTTAGAGTTCTATGGATCAGAAATTCAGGCACAGTATGGTTCAGCTGgTTCTCTGGTCCTGGTTTCACAAGGCTGAAATCAAAGTGTGAGTACAGCTGTGT . 05BR003 ENSG00000091129.21 ENSG00000146809.13 -/- +/- chr7:108312665 chr7:123570974 5'UTR/splice-site intron duplication/5'-5' 5 0 0 20 8 medium . . . . . ENSG00000091129.21 ENSG00000146809.13 ENST00000379028.8 . upstream downstream . ^(AGCCTCGCTTCGCCAGGGTCGCTGGCGGACGCGCGCCGCAGTCCGAGCCTCAGACGCGCGGGCGCGGGGGACGGCGCAGGGGCCGCCTGGCTGGAGCAGCCAGAGGGGATAGCTTCGTCGAGAACGGAGGACACCGGCGGTCCAGG)GTCCTGGGCAGTCGCGCCAGAGCTGAGCGGAGGGCGCGGCGCGAGAAC___GAATCTTTGTGACATTCTCTCTCAGCATTCTTTATCCCCTGTTTGCTGAAGACTTCGACcAAAGCTGGTCTTAGCTGTTGGCATTCTCCTGAGAAAAGGATAGCTTCAGAAATCAGAAAAACATTTGGGAGGTGTCTAGCCCAGTGGACCTTCTGAAG___AGCAATGCTAAGAAGACGTTTGGTTTAAAGAATTAAAAGGAAGAACAACTTAAGAGCTTCTTCAAAG|ATGGAAATATTGGCATAGTTCCAGAGGAGTTAAAGGACTCAC . 05BR003 ENSG00000030419.16 ENSG00000100154.14 -/- -/- chr2:213049713 chr22:28163599 CDS/splice-site CDS/splice-site translocation 0 4 0 6 14 medium out-of-frame . C2H2-type_zinc_finger(100%),Zinc_finger__C2H2_type(100%)|CHAT_domain(100%),Tetratricopeptide_repeat(100%) . . ENSG00000030419.16 ENSG00000100154.14 ENST00000457361.5 ENST00000397906.6 upstream downstream . ^(AACCCTGCTCCTCGCTGAAGATGGAGGAAGTAAAAACAGGATTACCCTTAGCTACAGATCCACTGCCTTAGTTTCCACCACCAACTGCAGTGCACAAACACACGTTAGGCACAGGAAAGAAAGAAAGACAGAGGACACATTAACAGTAAACACAAACAAAAGGGTGATGGGATTATTTTACTGCATGCACTGCTGAG___CCCGACATTGTCACCTCCTCTTTGAGGGGTTAGAAGAAGCTGAGATCTCCCGACAGAGCTGGAAATGGTGATGAATCTTTTTTAATCAAAGGACAATTTCTTTT___CATTGCACTTTGACTATGGAAACAGAGGCTATTGATGGCTATATAACGT___GTGACAATGAGCTTTCACCCGAAAGGGAGCACTCCAATATGGCAATTGACCTCACCTCAAGCACACCCAATGGACAGCATGCCTCACCAAGTCACATGACAAGCA___CAAATTCAGTAAAGCTAGAAATGCAGAGTGATGAAGAGTGTGACAGGAAACCCCTGAGCCGTGAAGATGAGATCAGGGGCCATGATGAGGGTAGCAGCCTAGAAGAACCCCTAATTGAGAGCAGCGAGGTGGCTGACAACAGGAAAGTCCAGGAGCTTCAAGGCGAGGGAGGAATCCGGCTTCCGAATG___GTGAACGCCCCTTCCACTGTAACCAGTGTGGAGCTTCTTTTACTCAGAAGGGCAACCTTCTGAGACACATAAAGTTACACTCTGGAGAGAA)GCCGTTCAAATGTCCTTTCTGTAGCTACGCCTGTAGAAGAAGGGACGCCCTCACAGGACACCTCAGGACCCATTCTG|GCAGCTTCATCAGCCTTGAGCAGTCTGGGCCACGTGTACACAGCCATTGGAGACTACCCCAATGCACTGGCCAGTCACAAACAGTGTGTTCTTCTTGCCAAGCAATCCAAAGATGAACTTTCTGAAGCCCGAGAACTTGGCAACATGGGAGCTGTGTATATTGCCATGGGTGACTTTGAGAATGCTGTGCAGTGCCATGAGCAGCATCTGAAGATAGCCAAGGACCTGGGGAACAAGCGAGAAGAGGCCCGGGCTTATAGCAACCTGGGCAGTGCCTATCACTACCG(GAGGAACTTTGACAAGGCCATGTCTTACCATAACTATGTCCTGGAGCTGGCACAGGAGTTGATGGAGAAGGCTATTGAGATGCGGGCCTATGCTGGACTAGGCCATGCTGCCAGGTGCATGCAGGATTTGGAGAGAGCTAAACAATACCATGAGCAGCAGCTGGGCATTGCTGAGGATCTCAAGGACCGGGCTGCAGAGGGGCGAGCATCCTCCAATCTAG___GAATCATACACCAGATGAAAGGTGATTATGACACTGCACTGAAACTCCACAAGACCCACCTGTGCATTGCCCAGGAGCTGAGTGATTATGCTGCCCAGGGCCGTGCCTATGGGAATATGGGCAATGCCTACAATGCCCTGGGCATGTACGACCAGGCGGTCAAATACCATCGGCAGGAGCTGCAGATCTCCATGGAAGTGAATGACCGCGCCTCACAGGCCTCCACACATGGGAACCTTGCCGTGGCCTACCAGGCCCTGGGTGCCCATGACCGGGCCCTGCAACACTATCAGAACCACTTGAACATCGCCCGGGAGCTACGAGACATCCAGAGCGAGGCCCGGGCCCTCAGCAACCTGGGCAATTTCCACTGCTCTCGGGGAGAGTATGTCCAGGCTGCCCCCTATTATGAACAGTACCTCCGGCTTGCTCCCGACCTTCAAGACATGGAAGGAGAAGGGAAGGTCTGCCACAATCTTGGCTATGCCCATTACTGCCTTGGAAACTATCAGGAGGCAGTGAAGTACTACGAACAGGATCTGGCACTGGCTAAAGACCTTCACGACAAGTTGAGCCAAGCAAAAGCCTACTGCAACTTGGGCCTAGCATTCAAGGCTCTGCTGAATTTCAGTAAAGCTGAAGAGTGTCAGAAGTACCTACTGTCCCTAGCCCAGTCTCTGAATAATTCCCAGGCTAAATTTCGAGCCCTAGGAAACCTGGGCGATATATTCATCTGTAAAAAAGATATAAATGGTGCAATAAAATTCTATGAGCAGCAACTGGGCTTAGCTCACCAGGTAAAGGACAGAAGATTAGAAGCCAGTGCATATGCAGCCCTGGGCACTGCATACCGAATGATCCAGAAGTATGACAAGGCCCTGGGTTATCACACACAGGAACTGGAGGTATATCAGGAGCTGAGTGACTTGCCAGGGGAGTGCAGAGCTCATGGGCACCTGGCTGCTGTCTACATGGCCCTTGGGAAATACACAATGGCATTCAAGTGTTATGAAGAGCAACTGGATCTAGGGCAAAAGCTGAAGGATCCGAGTCTGGAAGCCCAGGTCTATGGCAACATGGGCATCACAAAGATGAACATGAATGTGATGGAAGAAGCCATTGGCTACTTTGAGCAGCAATTGGCCATGCTGCAGCAGCTAAGTGGAAATGAGTCTGTGCTCGACAGGGGCCGGGCCTATGGCAACCTGGGGGATTGCTACGAAGCCCTGGGTGACTATGAGGAAGCTATCAAATACTATGAACAATATTTATCTGTCGCGCAGAGTCTGAATCGCATGCAAGACCAAGCCAAGGCTTACCGGGGCCTGGGAAATGGACACAG___GGCAATGGGGAGCTTGCAGCAAGCCCTTGTGTGCTTTGAAAAGAGGCTCGTGGTTGCTCATGAACTTGGAGAGGCCTTCAATAAAGCCCAGGCCTATGGAGAGCTGGGAAGTCTGCACAGCCAATTAGGGAATTACGAACAAGCCATTTCCTGCCTTGAACGCCAGCTGAACATTGCTAGAGATATGAAAGACCGAGCCCTGGAGAGTGACGCAGCCTGTGGCCTGGGGGGCGTTTACCAGCAGATGGGGGAGTATGACACAGCCCTGCAGTACCACCAGCTTGATCTACAGATAGCAGAGGAAACCAACAACCCCACGTGCCAGGGCCGAGCCTATGGGAACCTGGGCCTGACTTATGAATCCCTGGGCACCTTCGAGAGGGCTGTGGTCTATCAAGAACAGCACTTGAGCATTGCTGCACAGATGAATGACTTGGCGGCCAAGACGGTGTCATATAGTAGCCTTGGAAGGACCCATCATGCCTTGCAGAACTATTCCCAAGCAGTCATGTACTTACAGGAAG___GTTTAAGGTTAGCTGAGCAACTGGGCCGAAGAGAAGATGAGGCAAAAATTCGCCATGGCCTTGGCCTCTCCCTTTGGGCTAGTGGAAACTTGGAGGAGGCCCAACACCAG___CTTTATAGGGCATCAGCCTTGTTTGAAACAATCCGACATGAGGCACAGCTGAGCACGGACTACAAACTCTCCCTCTTTGACCTGCAGACATCATCCTACCAGGCCTTGCAGCGGGTGCTCGTCAGCCTAG___GCCATCATGATGAAGCCCTGGCTGTGGCAGAAAGGGGACGGACAAGGGCATTTGCTGATCTTCTGGTGGAACGACAAACAGGACAACAAGACTCCGACCCCTACTCCCCAGTCACTATTGATCAGATCTTAGAGATGGTAAATGGCCAGAGGGGACTAGTGCTTTACTATTCCCTGGCTGCAGGCTATCTGTATAGCTGGCTGCTGGCTCCTGGGGCAG___GAATTGTGAAGTTTCATGAACACTACCTGGGTGAGAACACAGTGGAAAACTCAAGTGACTTCCAGGCCAGCAGCAGTGTAACCCTTCCAACAGCAACCGGCTCAGCCCTGGAGCAGCACATTGCCAGTGTCCGGGAGGCCCTGGGGGTGGAGTCTCACTACTCAAG___GGCCTGTGCCAGCAGTGAGACAGAGAGTGAAGCGGGAGACATCATGGACCAGCAATTTGAAGAGATGAACAACAAACTCAACTCGGTCACTGACCCCACTGGCTTTCTGCGGATGGTTCGCCGCAATAACCTGTTTAACAG___GAGCTGCCAGAGCATGACGAGCCTGTTCAGTAACACTGTGTCACCGACCCAGGACGGGACCTCCTCTCTTCCCAGGAGGCAGAGCTCGTTTGCCAAGCCCCCGCTCCGTGCCCTGTATGACCTGCTCATCGCGCCCATGGAAGGG___GGCCTGATGCACTCCAGCGGCCCCGTGGGCCGGCACCGGCAGCTCATCCTGGTTCTGGAGGGGGAGCTCTACCTCATTCCTTTCGCCCTCCTGAAGGGAAGCTCCTCCAATGAGTACCTCTACGAGCGCTTCGGCCTCCTTGCTGTCCCTTCCATCCGCTCCCTCAGCGTGCAGTCCAAG___TCTCACTTACGGAAGAACCCGCCCACATACTCCAGCTCCACATCCATGGCGGCTGTCATCGGCAACCCCAAGCTACCATCGGCCGTGATGGACAGGTGGCTGTGGGGGCCCATGCCATCGGCCGAGGAAGAGGCCTACATGGTGTCCGAGCTGCTGGGCTGCCAGCCCCTAGTGGGCAGTGTGGCCACCAAGGAGAGGGTCATGAGTGCCCTGACCCAGGCTGAATGCGTCCACTTTGCCACCCACATCTCCTGGAAGCTGTCGGCCTTGGTCCTCACGCCCAGCATGGACGGCAACCCTGCCAGCAGCAAGAGCTCCTTCGGCCACCCCTACACGATCCCTGAGTCCTTGCGGGTGCAGGACGATGCCAGTGATGGGGAGAGCATCTCGGACTGCCCGCCCCTGCAGGAGCTGCTGCTTACTGCCGCCGACGTCCTGGACCTGCAGCTGCCTGTGAAGCTGGTGGTGCTTGGCTCCTCCCAGGAGTCCAACAGCAAAGTCACAGCCGACGGGGTCATCGCGCTGACAAGGGCCTTCCTGGCTGCCGGCGCTCAGTGTGTCCTCGTGTCTCTGTGGCCTGTGCCAGTGGCTGCTTCTAAGATGTTCATCCATGCCTTCTACTCATCCCTGCTGAACGGCCTGAAAGCCAGCGCCGCCCTGGGGGAGGCCATGAAGGTGGTGCAGAGCAGCAAGGCCTTCTCGCACCCCTCCAACTGGGCAG___GGTTCATGCTCATCGGGAGTGACGTTAAGCTGAACAGCCCCTCATCACTCATCGGCCAGGCCCTCACAGAGATCCTGCAGCACCCGGAGCGTGCGCGGGACGCCCTGCGAGTGCTGCTGCACCTG___GTGGAGAAATCCCTGCAGCGCATCCAGAATGGGCAGCGCAATGCCATGTACACATCCCAGCAGAGTGTGGAGAACAAAGTGGGCGGCATCCCTGGCTGGCAGGCCCTCCTCACCGCTGTGGGCTTCCGGCTGGACCCCCCAACCAGTGGCCTGCCAGCGGCTGTCTTCTTCCCAACCTCCGACCCGGGCGACCGGCTCCAGCAGTGCAGCAGCACACTCCAGTCCCTGCTGG___GTCTGCCCAATCCTGCCCTCCAAGCCCTTTGCAAACTCATCACTGCCTCCGAGACGGGCGAGCAGCTCATCAGCCGG___GCTGTTAAAAATATGGTTGGAATG___CTCCACCAGGTGCTGGTTCAGCTCCAGGCTGGCGAGAAGGAGCAGGACTTGGCATCAGCTCCCATTCAGGTCTCCATCAGCGTCCAGCTGTGGCGGCTCCCGGGATGCCACGAGTTCCTGGCAGCTCTAG___GTTTTGATCTCTGTGAAGTTGGTCAGGAGGAAGTAATCCTGAAAACCGGGAAGCAAGCTAATCGACGGACTGTGCACTTCGCGCTCCAGTCCCTGCTGTCTCTGTTTG___ATTCTACTGAGCTACCCAAGCGCCTCAGCCTTGACAGCTCCTCCTCCCTCGAGTCTCTTGCTTCTGCTCAGTCTGTTTCCAACGCCCTGCCCTTGGGTTACCAGCAACCCCCCTTCTCTCCCACCGGTGCGGACAGCATCGCCTCAGATGCCATCTCTGTGTACAGTCTGAGCTCCATTGCCTCCTCAATGAGCTTTGTCTCCAAACCCGAGGGTGGATCAGAGGGTGGAGGCCCCGGAGGACGGCAGGACCATGACCGGTCCAAGAACGCTTACCTGCAGAGATCCACCCTGCCTAGGAGCCAGCTGCCTCCCCAGACCCGCCCTGCAGGCAACAAAGATGAAGAAGAATATGAAGGGTTTTCTATCATCAGTAACGAGCCCTTGGCGACCTACCAAGAAAACCGAAACACATGCTTCTCACCAGACCACAAACAACCCCAACCTGGGACAGCCGGAGGCATGAGAGTCTCGGTGAGCTCCAAAGGGAGCATCAGCACTCCAAATTCTCCAGTGAAAATGACTCTGATTCCCAGCCCCAACTCACCCTTCCAAAAGGTGGGAAAACTAGCAAGCTCAGATACAGGAGAATCAGACCAGTCTAGCACAGAAACGGACAGTACCGTGAAATCCCAAGAAGAAAGCAACCCAAAACTGGATCCACAAGAGTTAGCCCAGAAAATTCTGGAGGAGACACAGAGTCATCTCATTGCGGTGGAGCGTCTTCAGAGGAGCGGCGGCCAGGTGAGCAAGAGTAATAACCCTGAAGACGGCGTTCAGGCGCCCAGCAGCACTGCTGTCTTCAGAGCGTCAGAAACCAGTGCGTTCAGCAGGCCTGTTCTCTCCCATCAGAAGAGTCAGCCATCACCAGTCACTGTTAAACCAAAGCCCCCAGCCAGGAGCTCCTCCCTGCCCAAGGTGAGTTCCGGATATAGCAGCCCCACCACCTCAGAGATGTCCATCAAAGACAGCCCGAGCCAGCACAGTGGCCGGCCATCGCCCGGCTGCGACTCACAGACTTCCCAGCTGGACCAGCCTCTCTTTAAACTGAAGTACCCCAGCTCTCCTTACAGCGCTCACATTTCCAAATCACCAAGGAACATGTCCCCAAGCTCCGGCCACCAGTCTCCTGCTGGCAGTGCACCCTCCCCAGCTCTCTCCTACTCCTCAGCTGGATCTGCTCGCTCAAGTCCAGCAGACGCTCCCGACATAGACAAACTGAAAATGGCAGCCATTGATGAAAAGGTGCAGGCTGTCCATAACCTGAAGATGTTCTGGCAGAGCACACCCCAGCATTCCACAGGGCCAATGAAGATCTTCCGGGGGGCTCCTGGCACGATGACTTCCAAAAGGGATGTCCTCAGTCTGTTGAATTTGTCACCACGGCACAATAAGAAGGAGGAGGGAGTGGATAAGCTTGAACTGAAGGAGCTGTCCCTGCAGCAGCATGACGGAGCTCCACCGAAAGCCCCTCCCAACGGACACTGGCGCACCGAGACCACCTCGCTGGGCTCACTGCCGCTGCCCGCCGGCCCTCCCGCCACAGCCCCCGCGCGCCCTTTGAGGCTTCCTTCTGGAAATGGCTACAAGTTCCTGTCTCCAGGAAGATTTTTCCCTTCTTCCAAATGCTAAAGCATCTTTTATACCCACTGACTCTGAGCAGCCTGCAGATGGGGGCCTGGCGTTTGCTTCAGCCCTTCCCTGAGTGCAGTCCCCCCACAGCCACCAGCACCCTCATGATGCTGTGCTCTGCAGGCGAGGGGCACCACCACGTCCAAAGGCTGCCACACACACTGGTGGCTTTTCTGGGCCACATTCACCAAAAGCCAGGACTTCTGTGGGGCTGGTACAGGAGGCTCATGGAATTTCCTACACACTTCACCAAATGTTTGTTTACCTTTGAACTCCCTGCTTCTCATCTTTGATATGATTCTTCACCAGGATTTTGTACAAAAATGATCATGGTTCTGGGGTGGGGAGAGGAAAGGGAGCACATATTTTGCTAAGAGGTATATATGCAGTACCTTTTATACACAGAAATACAAATAGAGCTTTTTCTAAGGCTTTCGGTTGCTGGTTGGGGGTGGGATATATGAAATTTCAGTTGAATTCTACAGGAAAGTGTTATATTAGCCAAAAACAGAAAAATGGTTTTTAAAATGCCAATGATTTGTAATTAAATTGTAGCAATTTTGGTCTCATGATAGTGTAATATCTCAGCAACAATGCAATAATTCACATTGAAACAGCGCTTCCATTCTGAACTCTGCTCTGCAAATGTCTTTTGGGTCCCGCTGTCAACCAAACTTGAATTTTCTTAAAAAAAAAATTATGTAACTCTTATCCAGGCATTTTAGAACTATGCAATTGTGATTTAAAATGCAACTTTGTGCTTTTAAAACATTATTGACCTTTTTTGTATATGGATAAACAACTTGGTTTTATTATCAATAGTACTTTGCATTTATAGCTATTATTTTTAAAAGCTCAAAAAGTTTTTTAAAATGTCAAATTTTGAATAGTCATCAATAAGTAATTATCAAGTTTGGAAGGAAAGGTTGAAATGACTCCGTTTCCTTATAAGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTCCATGGCTAACTAGATTTAACCAGAATCCCGCCTTCCAGGCTCCTGTTCCCTTTTATTAGCTGCTGAATTTTATTCCCTTTTCCCAACTCCAGGTCCCTCAGTTGTCTTATATCTAAATCCTTTGCCAGGTCCCCACAATCCCAGCACCTGCCTCTGTGAGCTGCCCCCAGGCCCTCACCTTGGCCCTGGCCAGCCTCCTGTGCTCCTGCTGTCTGAAGGACTGGCCCCTCCCCCACTGCTGAAGCCACACGTACAGATCCTAAGCAACAGGGCCTTTTGCTGGGACGTATGCCTGGATTATGGCCAACCGGGAAGAGAGAGATGTATCTTAAAAAGTGGAGGTGGACTTCTCCTACAGCTCTGACGGTAACTTAAATTGTTGCCAGCTTGAGGCAAGACAAGGGAATCATCTAGTTAGGGGTAACCATTAATTTATTTTATAAAGAAAGGAAATGCTGAAAGTCGTATTAGTACTGAGTTTAGTTGGAGAATTTAGATAAGTAAGTATCTTTTAGGTAATTCTAAAATTAAAATCCTACCCACCTCACTACAGGGTTCCTCATGAAGGTGGGCGGCCACCTGGCCTGGGCCACCAGCAGCACATGGAGCAGACCTGAGGGGCCTGGCAGGGGGCACTGACCTCAGGATCCCCAGGTGGGGGTTTTAACCATGGGTGGGATCTCAGCTTCTGCGCATACACTGACAATCTCACCTGTTCCTCAGTGTACTCCTCTGAAAAGAAGAAAGGATAATATTTATCCAATCTGTGTTCTCCTGAGCTCCATCCTAGGGGTTTTTAATTTAACCAACAGCCATGTTGACAAAAGCCAACAATAAGCATGTCTTATTCTAGCCCTGATCCCAACACTGAAAGCGAAGTACTTTATAAAGAAGCCAGCAATTATGAGGGTTTCTTTATGTTAGTAGGGGAAAAAATGGTAATAAAAGTACCAGTGTAGCAAGTGAAGACCAAATTTATAGCACTGTGCATTAGATAGCAAAATCAGGTTCTTAACAATGAAAAGTAAACCTCAAGTTTCTAAATCCATATGCAGATGGTTAGGCTGTCCCTCTCTTAGCAAATCTCTCAGCCTCCTTCTTTCCCAAGTGCCAAGGATCCCTGGAGTAAAGCTCTGGGGTCTGTGCTCTCTTTCTGTGAGGGGAAGGCTGCGGCCCTATTTGCCCCTCTCTAGCAAACACCCCCACCACCCTGCCGCTTCCTGTGGTTATTGAGCCAGCTAGGAGTTACTCATGGACTCTAACCTGGTTTTAGTCCCATGTACATCGTTGTTTTAGGTTTCATACTGAAGAGCCAATGGTTTATGTGGTTTTATTCTGTCTTAAATATAAGTTTCAAGGAAGGGAAAACAAAAGTGATAAAATGATAGAACAGTCTAGAGGCCACTGTAAAGTCACCGCCACTTTACGTGTATGTCAGTCTTGGTGTTCTTGTATGAGTAAAATGGATGTAAAATCATAAAATCACAGTGAATGTTTCAGGCTACACTGGAAAAAGTATGCACTTAGAATTAAAGGAAATTGTATAATTCACCAAGATTTCTTTGTGTAGATCAGGGGTTGGCAACTATGACCCACAGGCTAAGACTGGTCAGCGGTCTGGTTTTTCACAGCCATGAGCTAAGTTACCTTTTTAAAGGGTTATATAAGTAATTACATCATATTTTTGATTTTGCCTTTGGCCCACACCACATAAAATATTCAATACCTGGCCTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGATAGAGTGCACTGGTGCGATTTTGGCTCACTGCAACCTCTTCCTCCTGGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTAAGTAGCTGGGACTACAGGCACCCACTACCATGCCTTGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGGGATCCGCCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGTGAGCCACTGCGCCCAGCCAATACCTGGCCTTTTAAGAAGTTTGCTGACTCCTGGTATGGATGACAGAAAATGGAATAACGTTTTGTTTCTCCAGTCTAGGAAAAGCAAGTCAGGTAGTGGATAGACTGACTGGCGTCCGGGGAGCCCAGGGTATGTGAGGGCCACGTGGATGGAAGCAAATGCCTCCTGCATAGCCCTTGGCTCTTTGTCCCACTTGGGAGGAGTCCATGGATGTAATATTTACAAAACAATTTTTTCCTTACCATTTGCAGAAAGCATTGCATATATTTCCTTTTAGCTCAGGAAACTGGCATGCCCCACCCTCTGCTACTCCATCAGATGTAAATACAATGACTATAAGCCGTACAACTCCCCTCTCTTAGAAACCTCAGCAGGACCACAGAGCAAGGGAGTCAAAGCTTTCTTAATTCTCTCCAGTAAATGACTCAACTAATTTGATTTTTTTAATTAAGTCAAAATATCAAGAGAAAAATTGCTACTAAAACTTACATTTTGATCCACACTGATGTGCAACACAAAATGAAAGTTTTCACCTCCATTCCATTTTTTAAAAATTCACGGTCCACACTGAAACTTGCTGGGTTTTAGCAGGAGACAAAGGTGTCACCCACGCTGTCCTCATCCTGCTCTCTCTGTCCCAGTGACGCTCCAGCATATGATCACTGCAGCCGGTCCCTGGCCCGTGCCGATTCTGCCACCTCCCAGCCACACACATTTGCAGACCCACAAGAAGAACTGTAGCCTTGATAATTTCAGTTCAGGCTGGAAAAATGCCATGCAATAATCTGGTTTGCTTTCAGTAAGTAGGCAACAAGTGAAAACTGTATAATTTTCATCACCTATTCTGCTGTTCTATCTAAAATGAGTGTACCTGTGGTTTGTGAACTGGGCCCTTGTTTGTGCCAGATCCTTCAAAGATGTTCCCTGTCAGGACACCTGTGGCCCTGCCCCTCCTCAGACACCTTCCCACTGGCATTCACGTTCCTTATATGCAGTGTTAGCCATCTTTGGCCTACGTGGACTTTTTTTGTAAATTACACCATTTCCAGACATTAAACTTTTTATATTATGAAATTTACCATGTAAAAAGAACTTCATATTTTTATTGAGATTGCTAAGGCACTTGGCCTTCCTCCTTTGTGATTTTCAGTGTCTATTAAAGCATGAGTTCCCTCAGTTTTAA)$ MTSTNSVKLEMQSDEECDRKPLSREDEIRGHDEGSSLEEPLIESSEVADNRKVQELQGEGGIRLPNGERPFHCNQCGASFTQKGNLLRHIKLHSGEKPFKCPFCSYACRRRDALTGHLRTHS|gsfisleqsgprvhshwrlpqctgqsqtvcsscqaiqr* 05BR003 ENSG00000273299.1 ENSG00000226066.1(131639),ENSG00000231244.1(93915) +/+ ./- chr7:90405612 chr7:136619956 exon/splice-site intergenic inversion 1 1 1 214 75 medium . . . . . ENSG00000273299.1 . ENST00000480135.1 . downstream downstream duplicates(1) ^(TCC)CAGAAGCCTCCGGTGTACCTCGCTGGGAACGCACTTCCTGGGACGCTGAGAGGGAGACGCTCCAAGAGGCTCCTCAGTGTGGGCGAGTAAAATGCCCTGCGTGTGAGAAGCAG___GCTCAGATTATTGCTACTCTGTATTCAGATCTTCATGTGTCTCTTCTAAGCTGAATAAAGCTGTTTTGGAACTGTCAGGTACCTCAAAGCGTAA|GTCAGTTTCCCTGCACATGCTCTCTTGCCTGCCACCATGAAGACGTGACTTTGCTCCTCCTTCACCTTCTGTCACGATTGTGAGGCCTCCCCAGCCATGTGGAACT___GAGGCTGGATTTTAGGCTATACCATGACTTTGCAAGAGATCACTGCATTTTAACCCCTTTAGAAGAATTTCCCTTTGAGTCTTGG . 05BR003 ENSG00000158161.16 ENSG00000009709.12(21181),ENSG00000179002.5(69552) -/- ./- chr1:28088524 chr1:18770047 5'UTR/splice-site intergenic deletion 0 2 0 9 6 medium . . . . . ENSG00000158161.16 . ENST00000540618.5 . upstream downstream . ^(CCTAGCGATGCGCATCCGGGTCACGCTAACGCCGCGGTTTC)CTCCGCTCGATTGGTTCTACTGTGGGTCTGGACTGATCTCCATGTCCTGTTGTGGGGCTTTTACAGCCTTTGG|GCTTCGTTTAGGTAGAAGGACAACCCCCTGAAGTGGAGGAGACTTGGGCCAGACTAGACTAGCCAGGATGGAGGAAGAGCCAGAATAATCCTTAAGGAGGGAAAGGCAGGGCACAGCTGGCCCAAAGAGTGATGTGAGACCACGCAACAGATAGG . 05BR003 ENSG00000150938.10 ENSG00000212168.1(55554),ENSG00000271615.1(155275) +/+ ./+ chr2:36522313 chr2:57600153 CDS/splice-site intergenic deletion 0 2 0 137 5 medium out-of-frame . Antistasin_family(100%),Insulin-like_growth_factor_binding_protein(100%),von_Willebrand_factor_type_C_domain(100%)| . . ENSG00000150938.10 . ENST00000280527.7 . downstream upstream mismappers(1) ^(AGGAGTGAGGCGAGCGGGGCGCGCGGAGCGGACGCCGCGGATCTTGTGCTGCGCCACCGCGCCCACTCGGCAGCTCGGGAGGCGGGGACCGGCCCGGAGGCTGCGCCGCTGCGGGGCCGGCCGACTCGGAGGAGGAGAGGGAGGAGGCGCCGCCGGCCCGGGCTGGAGCCGAGCGCAGCAGCCACCGCCGCCGCCGCGCCAGAAGTTTGGGTTGAACCGGAGCTGCCGGGAGGAAACTTTTTTCTTTTTTCCCCCTCCCTCCCGGGAGGAGGAGGAGGAGGAGGAGGGGAAGCTGCCGCCGGCGCCAAGGCTCGTGGGCTCGGGGTCGGCGCGGCCCGCAGAAGGGGCGGGGGCCTCGCCCCGCGAGGGGAGGCGCGCCCCGGGGGCCCCGAGAGGGGCGGTGAGGACCGCGGGCTGCTGGTGCGGCGGCGGCGGCGCGTGTGCCCCGCGCAGGGGAGGGCGCCCGCCCCGCTCCCGGCCCGGCTGCGAGGAGGAGGCGGCGGCGGCGCAGGAGGATGTACTTGGTGGCGGGGGACAGGGGGTTGGCCGGCTGCGGGCACCTCCTGGTCTCGCTGCTGGGGCTGCTGCTGCTGCTGGCGCGCTCCGGCACCCGGGCGCTGGTCTGCCTGCCCTGTGACGAGTCCAAGTGCGAGGAGCCCAGGAACTGCCCGGGGAGCATCGTGCAGGGCGTCTGCGGCTGCTGCTACACGTGCGCCAGCCAGAGGAACGAGAGCTGCGGCGGCACCTTCGGGATTTACGGAACCTGCGACCGGGGGCTGCGTTGTGTCATCCGCCCCCCGCTCAATGGCGACTCCCTCACCGAGTACGAAGCGGGCGTTTGCGAAG___ATGAGAACTGGACTGATGACCAACTGCTTGGTTTTAAACCATGCAATGAAAACCTTATTGCTGGCTGCAATATAATCAATGGGAAATGTGAATGTAACACCATTCGAACCTGCAGCAATCCCTTTGAGTTTCCAAGTCAGGATATGTGCCTTTCAGCTTTAAAGAGAATTGAAG___AAGAGAAGCCAGATTGCTCCAAGGCCCGCTGTGAAGTCCAGTTCTCTCCACGTTGTCCTGAAGATTCTGTTCTGATCGAGGGTTATGCTCCTCCTGGGGAGTGCTGTCCCTTACCCAGCCGCTGCGTGTGCAACCCCGCAGGCTGTCTGCGCAAAGTCTGCCAGCCGGGAAACCTGAACATACTAGTGTCAAAAGCCTCAGGGAAGCCGGGAGAGTGCTGTGACCTCTATGAGTGCAAACCAG___TTTTCGGCGTGGACTGCAGGACTGTGGAATGCCCTCCTGTTCAGCAGACCGCGTGTCCCCCGGACAGCTATGAAACTCAAGTCAGACTAACTGCAGATGGTTGCTGTACTTTGCCAACAAG___ATGCGAGTGTCTCTCTGGCTTATGTGGTTTCCCCGTGTGTGAGGTGGGATCCACTCCCCGCATAGTCTCTCGTGGCGATGGGACACCTGGAAAGTGCTGTGATGTCTTTGAATGTGTTAATG___ATACAAAGCCAGCCTGCGTATTTAACAATGTGGAATATTATGATGGAGACATGTTTCGAATGGACAACTGTCGGTTCTGTCGATGCCAAGGGGGCGTTGCCATCTGCTTCACCGCCCAGTGTGGTGAGATAAACTGCGAGAGGTACTACGTGCCCGAAGGAGAGTGCTGCCCAGTGTGTGAAG___ATCCAGTGTATCCTTTTAATAATCCCGCTGGCTGCTATGCCAATGGCCTGATCCTTGCCCACGGAGACCGGTGGCGGGAAGACGACTGCACATTCTGCCAGTGCGTCAACGGTGAACGCCACTGCGTTGCGACCGTCTGCGGACAGACCTGCACAAACCCTGTGAAAGTGCCTGGGGAGTGTTGCCCTGTGTGCGAAG___AACCAACCATCATCACAGTTGATCCACCTGCATGTGGGGAGTTATCAAACTGCACTCTGACAGGGAAGGACTGCATTAATGGTTTCAAACGCGATCACAATGGTTGTCGGACCTGTCAGTGCATAAACA___CCGAGGAACTATGTTCAGAACGTAAACAAGGCTGCACCTTGAACTGTCCCTTCGGTTTCCTTACTGATGCCCAAAACTGTGAGATCTGTGAGTGCCGCCCAAGGCCCAAGAAGTGCAGACCCATAATCTGTGACAAGTATTGTCCACTTGGATTGCT___GAAGAATAAGCACGGCTGTGACATCTGTCGCTGTAAGAAATGTCCAGAGCTCTCATGCAGTAAGATCTGCCCCTTGGGTTTCCAGCAGGACAGTCACGGCTGTCTTATCTGCAAGTGCAGAG___AGGCCTCTGCTTCAGCTGGGCCACCCATCCTGTCGGGCACTTGTCTCACCGTGGATGGTCATCATCATAAAAATGAGGAGAGCTGGCACGATGGGTGCCGGGAATGCTACTGTCTCAATGGACGGGAAATGTGTGCCCTGATCACCTGCCCGGTGCCTGCCTGTGGCAACCCCACCATTCACCCTGGACAGTGCTGCCCATCATGTGCAG___ATGACTTTGTGGTGCAGAAGCCAGAGCTCAGTACTCCCTCCATTTGCCACGCCCCTGGAGGAGAATACTTTGTGGAAGGAGAAACGTGGAACATTGACTCCTGTACTCAGTGCACCTGCCACAGCGGACGGGTGCTGTGTGAGACAGAGGTGTGCCCACCGCTGCTCTGCCAGAACCCCTCACGCACCCAGGATTCCTGCTGCCCACAGTGTACAG___ATCAACCTTTTCGGCCTTCCTTGTCCCGCAATAACAGCGTACCTAATTACT)GCAAAAATGATGAAGGGGATATATTCCTGGCAGCTGAGTCCTGGAAGCCTGACGTTTGTACCAGCTGCATCTGCATTGATAGCGTAATTAGCTGTTTCTCTGAGTCCTGCCCTTCTGTATCCTGTGAAAGACCTGTCTTGAGAAAAGGCCAGTGTTGTCCCTACTGCATAG|ACATTTACTGAAGATCTGCTTTGGCTGGACATACCATTATGCTCCACTACTGTATG___ATCACTGATCCAGTTAGAAATCATATGTCTTTACGGTATGAAATATAAGTCAAG___GGACCTGTTTTATGACCCAGCATATCGGTAAATTG___CTAGGACCTCCAGTATAATGCTGAATAGAAGTGGTAAGAGAAGACATCCTTGTCTGGTGCGCATCTTAGCAGGAAGCATTCATTTTTTCACTGTT MYLVAGDRGLAGCGHLLVSLLGLLLLLARSGTRALVCLPCDESKCEEPRNCPGSIVQGVCGCCYTCASQRNESCGGTFGIYGTCDRGLRCVIRPPLNGDSLTEYEAGVCEDENWTDDQLLGFKPCNENLIAGCNIINGKCECNTIRTCSNPFEFPSQDMCLSALKRIEEEKPDCSKARCEVQFSPRCPEDSVLIEGYAPPGECCPLPSRCVCNPAGCLRKVCQPGNLNILVSKASGKPGECCDLYECKPVFGVDCRTVECPPVQQTACPPDSYETQVRLTADGCCTLPTRCECLSGLCGFPVCEVGSTPRIVSRGDGTPGKCCDVFECVNDTKPACVFNNVEYYDGDMFRMDNCRFCRCQGGVAICFTAQCGEINCERYYVPEGECCPVCEDPVYPFNNPAGCYANGLILAHGDRWREDDCTFCQCVNGERHCVATVCGQTCTNPVKVPGECCPVCEEPTIITVDPPACGELSNCTLTGKDCINGFKRDHNGCRTCQCINTEELCSERKQGCTLNCPFGFLTDAQNCEICECRPRPKKCRPIICDKYCPLGLLKNKHGCDICRCKKCPELSCSKICPLGFQQDSHGCLICKCREASASAGPPILSGTCLTVDGHHHKNEESWHDGCRECYCLNGREMCALITCPVPACGNPTIHPGQCCPSCADDFVVQKPELSTPSICHAPGGEYFVEGETWNIDSCTQCTCHSGRVLCETEVCPPLLCQNPSRTQDSCCPQCTDQPFRPSLSRNNSVPNYCKNDEGDIFLAAESWKPDVCTSCICIDSVISCFSESCPSVSCERPVLRKGQCCPYCI|diy* 05BR004 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 20 26 0 53 64 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(5),mismappers(1),mismatches(1) GACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGcAGAC(GACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05BR004 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 22 16 0 276 165 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(4),inconsistently_clipped(2),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCA)GGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGG...___ACAAAAGGACGTGGAATGTACTTTCTGC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05BR004 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 14 20 0 162 74 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(4),low_entropy(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGA)GTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05BR004 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 5 28 0 43 93 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),mismappers(2),mismatches(3) GGAGCGTGTGGGCAGCAGCAGCaGCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCT(ATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05BR004 ENSG00000100345.22 ENSG00000172650.13 -/- -/+ chr22:36387807 chr10:73697539 5'UTR/splice-site CDS translocation/5'-5' 8 9 0 112 66 high . . . . . ENSG00000100345.22 ENSG00000172650.13 ENST00000216181.11 . upstream upstream inconsistently_clipped(1) ^(GCAGATCA)CCGCGGTTCCTGGGCAGGGCACGGAAGGCTAAGCAAGGCTGACCTGCTGCAGCTCCCGCCTCGTGCGCTCGCCCCACCCGGCCGCCGCCCGAGCGCTCGAGAAAGTCCTCTCGGGAGAAGCAGCGCCTGTTCCCGGGGCAGATCCAGGTTCAG|GCATCTCCTGGTCACGAATGTGGTGCATGTGGAGGTCCTCACCAACTTCAACGGTCACCTCAGCAGGCTGCACAGCAGCAGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCTCATAGATCTCAGATTCAGAGGGACACACCGACCCCTGTTGCTGG . 05BR004 ENSG00000100345.22 ENSG00000242288.9 -/- -/+ chr22:36387807 chr10:73697539 5'UTR/splice-site exon translocation/5'-5' 8 9 0 112 66 high . . . . . ENSG00000100345.22 ENSG00000242288.9 ENST00000216181.11 . upstream upstream inconsistently_clipped(1) ^(GCAGATCA)CCGCGGTTCCTGGGCAGGGCACGGAAGGCTAAGCAAGGCTGACCTGCTGCAGCTCCCGCCTCGTGCGCTCGCCCCACCCGGCCGCCGCCCGAGCGCTCGAGAAAGTCCTCTCGGGAGAAGCAGCGCCTGTTCCCGGGGCAGATCCAGGTTCAG|GCATCTCCTGGTCACGAATGTGGTGCATGTGGAGGTCCTCACCAACTTCAACGGTCACCTCAGCAGGCTGCACAGCAGCAGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCTCATAGATCTCAGATTCAGAGGGACACACCGACCCCTGTTGCTGG . 05BR004 ENSG00000083799.17 ENSG00000286456.1(4447),ENSG00000287317.1(32374) +/+ ./- chr16:50742841 chr7:64619281 5'UTR/splice-site intergenic translocation 2 9 0 31 33 high . . . . . ENSG00000083799.17 . ENST00000311559.13 . downstream downstream . ^(GGGGGCGGGCCCAGGTAGCAGGTTTGGCTGC)GCGGGGGCCGCGCGTCGGAG___TTTCCCCCTTTCTAGGGTGAGGATGGTTCTACACAGCCACCCGGAGTTCCTTAGTTGAAAGGTGCGCCCTGCTGTGACAG|GTGGTGCTGTTGGCTTAGAAATACCATGTACTCACGGAGGACGTGTATTGGGTTAGTATGGCATTTGCCGATCTTTCCTAACAGAACTGTTCCCCCGAATTGTAAAAATTCCTGCACATTTCATACACAGAGAAAAGACATGGTGACTGCAGATAGAAAAGGAGAAATTTTGCAACAGGATAGATGGAG . 05BR004 ENSG00000101000.6 ENSG00000200301.1(20470),ENSG00000229230.3(2116) +/+ ./+ chr20:35176446 chr20:35215893 CDS/splice-site intergenic deletion/read-through 5 6 0 77 19 high out-of-frame . MHC-I_family_domain(100%)| . . ENSG00000101000.6 . ENST00000216968.5 . downstream upstream . ^(ACTTCTCTTTTCCCTAGACTGCAGCCAGCGGAGCCCGCAGCCGGCCCGAGCCAGGAACCCAGGTCCGGAGCCTCAACTTCAGGATGTTGACAACATTGCTGCCGATACTGCTGCTGTCTGGCTGGGCCTTTTGTAGCCAAGACGCCTCAGATG___GCCTCCAAAGACTTCATATGCTCCAGATCTCCTACTTCCGCGACCCCTATCACGTGTGGTACCAGGGCAACGCGTCGCTGGGGGGACACCTAACGCACGTGCTGGAAGGCCCAGACACCAACACCACGATCATTCAGCTGCAGCCCTTGCAGGAGCCCGAGAGCTGGGCGCGCACGCAGAGTGGCCTGCAGTCCTACCTGCTCCAGTTCCACGGCCTCGTGCGCCTGGTGCACCAGGAGCGGACCTTGGCCT___TTCCTCTGACCATCCGCTGCTTCCTGGGCTGTGAGCTGCCTCCCGAGGGCTCTAGAGCCCATGTCTTCTTCGA)AGTGGCTGTGAATGGGAGCTCCTTTGTGAGTTTCCGGCCGGAGAGAGCCTTGTGGCAGGCAGACACCCAGGTCACCTCCGGAGTGGTCACCTTCACCCTGCAGCAGCTCAATGCCTACAACCGCACTCGGTATGAACTGCGGGAATTCCTGGAGGACACCTGTGTGCAGTATGTGCAGAAACATATTTCCGCGGAAAACACGAAAG|ATCTCTACTAAGAATGTCACTCTGGCCGGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTTGGGAGTTCGAGACCAGCATGACCAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGGGGTTGCGGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCTACAAGAGC MLTTLLPILLLSGWAFCSQDASDGLQRLHMLQISYFRDPYHVWYQGNASLGGHLTHVLEGPDTNTTIIQLQPLQEPESWARTQSGLQSYLLQFHGLVRLVHQERTLAFPLTIRCFLGCELPPEGSRAHVFFEVAVNGSSFVSFRPERALWQADTQVTSGVVTFTLQQLNAYNRTRYELREFLEDTCVQYVQKHISAENTK|dly* 05BR004 ENSG00000261349.1(604),ENSG00000187010.21(4699) ENSG00000117616.18 ./- -/- chr1:25267740 chr1:25247029 intergenic 5'UTR/splice-site deletion/read-through 8 6 0 49 247 medium . . |Arginine/Serine-Rich_protein_1(100%) . . . ENSG00000117616.18 . ENST00000243189.12 upstream downstream . GCCCGGGCGCTGGGTTCAGGGGCTTTCCGCCGCTCTGGGTTCACAGCTGGACGTCGGGAGTGCTAGTTTGGAGTACGCCATTTGAGAGTAGGCGTGAGAAGTTGCTCTGTGTGCTGAGCGTTCTAAAGGAAGcCGTCCGTTGGCCTTCGTACCCGTCTTGATTGAG|GAAGTCCTGAGTTGAGGCTTGCGGGATCCTTTCCGGAGAAAGCGCAGGCTAAAGCCGCAGGTGAAGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCCGCAGGAGAAGGATTCGCCCTCGACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAG(CCGCTCTTTTTCCAGAAGCTCTCGGTCCCATTCCCGCGTCTCGAGCCGGTTTTCGTCCAGGAGTCGGAGGAGCAAGTCCAGGTCCCGTTCCCGAAGGCGCCACCAGCGGAAGTACAGGCGCTACTCGCGGTCATACTCGCGGAGCCGGTCGCGATCCCGCAGCCGCCGTTACCGAGAGAGGCGCTACGGGTTCACCAGGAGATACTACCGGTCTCCTTCGCGGTACCGGTCCCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTGTACCCGGAGGAGCACAGCAGATGGAGGGACAGATCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAG___ATCGAATGGAGCTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAGGAACAACCAACATTGACTTGCCAGCTAGTCTCAGAACTGTTCCTTCAGCCAAAGAAACAAGCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAA___CTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATGAAAAACCTACCCAGCAAAGAAGCATAGCTTTTAGCTCTAAT___AATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCAAGATCACCAAAAATAGATCAGAAAAAAAGTCCATATGGACTGTGGATACCTATCTAAAAGAAGAAAACTGATGGCTAAGTTTGCATGAAAACTGCACTTTATTGCAAGTTAGTGTTTCTAGCATTATCCCATCCCTTTGAGCCATTCAGGGGTACTTGTGCATTTAAAAACCAACACAAAAAGATGTAAATACTTAACACTCAAATATTAACATTTTAGGTTTCTCTTGCAGATATGAGAGATAGCACAGATGGACCAAAGGTTATGCACAGGTGGGAGTCTTTTGTATATAGTTGTAAATATTGTCTTGGTTATGTAAAAATGAAATTTTTTAGACACAGTAATTGAACTGTATTCCTGTTTTGTATATTTAATAAATTTCTTGTTTTCATTCTTA)$ . 05BR004 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 1 8 1 18 15 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCC)GGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCG...___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyertt 05BR004 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 4 6 0 11 686 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream duplicates(2) ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCG)CTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTG(GCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 05BR004 ENSG00000035403.18 ENSG00000172650.13 +/+ -/- chr10:74074903 chr10:73682794 CDS/splice-site CDS/splice-site inversion 0 6 0 103 118 medium in-frame . Vinculin_family(100%)|Ankyrin_repeats_(3_copies)(100%),Putative_GTPase_activating_protein_for_Arf(100%) . . ENSG00000035403.18 ENSG00000172650.13 ENST00000372755.7 ENST00000581191.5 downstream downstream duplicates(1),mismappers(1) ^(GTAGTCGCTGCACAGTCTGTCTCTTCGCCGGTTCCCGGCCCCGTGGATCCTACTTCTCTGTCGCCCGCGGTTCGCCGCCCCGCTCGCCGCCGCGATGCCAGTGTTTCATACGCGCACGATCGAGAGCATCCTGGAGCCGGTGGCACAGCAGATCTCCCACCTGGTGATAATGCACGAGGAGGGCGAGGTGGACGGCAAAGCCATTCCTGACCTCACCGCGCCCGTGGCCGCCGTGCAGGCGGCCGTCAGCAACCTCGTCCGG___GTTGGAAAAGAGACTGTTCAAACCACTGAGGATCAGATTTTGAAGAGAGATATGCCACCAGCATTTATTAA___GGTTGAGAATGCTTGCACCAAGCTTGTCCAGGCAGCTCAGATGCTTCAGTCAGACCCTTACTCAGTGCCTGCTCGAGATTATCTAATTGATGGGTCAAGGGGCATCCTCTCTGGAACATCAGACCTGCTCCTTACCTTCGATGAGGCTGAG___GTCCGTAAAATTATTAGAGTTTGCAAAGGAATTTTGGAATATCTTACAGTGGCAGAGGTGGTGGAGACTATGGAAGATTTGGTCACTTACACAAAGAATCTTGGGCCAG___GAATGACTAAGATGGCCAAGATGATTGACGAGAGACAGCAGGAGCTCACTCACCAGGAGCACCGAGTGATGTTGGTGAACTCGATGAACACCGTGAAAGAGTTGCTGCCAGTTCTCATTTCAG___CTATGAAGATTTTTGTAACAACTAAAAACTCAAAAAACCAAGG)CATAGAGGAAGCTTTAAAAAATCGCAATTTTACTGTAGAAAAAATGAGTGCTGAAATTAATGAGATAATTCGTGTGTTACAACTCACCTCTTGGGATGAAGATGCCTGGGCCAGCAAG|GTATCTACTGAGCGTTTCAGTCAACAATACAGCTCGTGTTCGACAATATTCCTTGATGACAGCACAGCCAGCCAGCATTATCTTACAATGACAATAATATC___TGTGACCTTGGAGATACCTCATCATATCACACAAAG___AGATGCAGATAGATCTTTGAGCATACCTGATGAACAGTTACACTCATTTGCG___GTTTCCACCGTGCACATTACGAAGAACAGAAATGGAGGTGGGAG(TTTAAATAACTATTCCTCCTCCATTCCATCGACTCCCAGCACCAGCCAGGAGGACCCTCAGTTCAGTGTTCCTCCCACTGCCAACACACCCACCCCCGTTTGCAAGCGGTCCATGCGCTGGTCCAACCTGTTTACATCTGAGAAAGGGAGTCACCCAGACAAAGAGAGGAAAGCCCCGGAGAATCATGCTGACACCATCGGGAGCGGCAGAGCCATCCCCATTAAACAGGGCATGCTCTTAAAGCGAAGTGGGAAATGGCTGAAGACATGGAAAAAGAAATACGTCACCCTGTGTTCCAATGGCGTGCTCACCTATTATTCAAGCTTAGGTGATTATATGAAGAATATTCATAAAAAAGAGATTGACCTTCGGACATCTACCATCAAAGTCCCAGGAAAGTGGCCATCCCTAGCCACATCGGCCTGTGCACCCATCTCCAGCTCTAAAAGCAATGGCCTATCCAAGGACATGGACACCGGGCTGGGTGACTCCATATGCTTCAGCCCCAGTATCTCCAGCACCACCAGCCCCAAGCTCAACCCGCCCCCCTCTCCTCATGCCAATAAAAAGAAACACCTAAAGAAGAAAAGCACCAACAACTTTATGATTGTGTCTGCCACTGGCCAAACATGGCACTTTGAAGCCACGACGTATGAGGAGCGGGATGCCTGGGTCCAAGCCATCCAGAGCCAGATCCTGGCCAGCCTGCAGTCATGCGAGAGCAGTAAAAGCAAGTCCCAGCTGACCAGCCAGAGCGAGGCCATGGCCCTGCAGTCGATCCAAAACATGCGTGGGAACGCCCACTGTGTGGACTATGAGACCCAGAATCCTAAGTGGGCCAGTTTGAACTTGGGAGTCCTCATGTGTATTGAATGCTCAGGAATCCACCGCAGTCTTGGCACCCGCCTTTCCCGTGTGCGATCTCTGGAGCTGGATGACTGGCCAGTTGAGCTCAGGAAGGTTATGTCATCTATTGGCAATGACCTAGCCAACAGCATCTGGGAAGGGAGCAGCCAGGGGCAGACAAAACCCTCAGTAAAGTCCACGAGGGAAGAGAAGGAACGGTGGATCCGTTCCAAATATGAGGAGAAGCTCTTTCTGGCCCCACTACCCTGCACTGAGCTGTCCCTGGGCCAGCACCTGCTGCGGGCCACCGCTGATGAGGACCTGCAGACAGCCATCCTGCTGCTGGCACATGGCTCCCGTGAGGAGGTGAACGAGACCTGTGGGGAGGGAGACGGCTGCACGGCGCTCCATCTGGCCTGCCGCAAGGGGAATGTGGTCCTGGCACAGCTCCTGATCTGGTACGGGGTGGACGTCATGGCCCGAGATGCCCACGGGAACACAGCGCTGACCTACGCCCGGCAGGCCTCCAGCCAGGAGTGCATCAACGTGCTTCTGCAGTACGGCTGCCCCGACGAGTGCGTGTAGTATCTGTTTTATTTGACTGCAGTCTCCTTGGTGCAAAAACAAAATGGGAAAAATAAGGATAACTCAGAATTTCAAAAGGAAATCACAAATTCAGCTAGTAATAGCATTTTCAGTACTTTTCATAAACTAAGTAAATACACAAAATGTTGATTTTTCTGACCATAAGACATATTTTATGTCCTTTTGCCAAGGTGGATGTGTTAGTCTCAGGCCCTCCTGGCCACATTGCCCAAGTCACACAGGCTTCTGTATTATGTATTTAGATAAAATGTGTGAAAATATATTTGAAAAAAAAGTTCATAAATATGCATTGA)$ MPVFHTRTIESILEPVAQQISHLVIMHEEGEVDGKAIPDLTAPVAAVQAAVSNLVRVGKETVQTTEDQILKRDMPPAFIKVENACTKLVQAAQMLQSDPYSVPARDYLIDGSRGILSGTSDLLLTFDEAEVRKIIRVCKGILEYLTVAEVVETMEDLVTYTKNLGPGMTKMAKMIDERQQELTHQEHRVMLVNSMNTVKELLPVLISAMKIFVTTKNSKNQGIEEALKNRNFTVEKMSAEINEIIRVLQLTSWDEDAWASK|VSTERFSQQYSSCSTIFLDDSTASQHYLTMTIISVTLEIPHHITQRDADRSLSIPDEQLHSFAVSTVHITKNRNGGGSLNNYSSSIPSTPSTSQEDPQFSVPPTANTPTPVCKRSMRWSNLFTSEKGSHPDKERKAPENHADTIGSGRAIPIKQGMLLKRSGKWLKTWKKKYVTLCSNGVLTYYSSLGDYMKNIHKKEIDLRTSTIKVPGKWPSLATSACAPISSSKSNGLSKDMDTGLGDSICFSPSISSTTSPKLNPPPSPHANKKKHLKKKSTNNFMIVSATGQTWHFEATTYEERDAWVQAIQSQILASLQSCESSKSKSQLTSQSEAMALQSIQNMRGNAHCVDYETQNPKWASLNLGVLMCIECSGIHRSLGTRLSRVRSLELDDWPVELRKVMSSIGNDLANSIWEGSSQGQTKPSVKSTREEKERWIRSKYEEKLFLAPLPCTELSLGQHLLRATADEDLQTAILLLAHGSREEVNETCGEGDGCTALHLACRKGNVVLAQLLIWYGVDVMARDAHGNTALTYARQASSQECINVLLQYGCPDECV* 05BR004 ENSG00000035403.18 ENSG00000242288.9 +/+ -/- chr10:74074903 chr10:73682794 CDS/splice-site exon/splice-site inversion 0 6 0 103 118 medium out-of-frame . Vinculin_family(100%)| . . ENSG00000035403.18 ENSG00000242288.9 ENST00000372755.7 ENST00000399449.3 downstream downstream duplicates(1),mismappers(1) ^(GTAGTCGCTGCACAGTCTGTCTCTTCGCCGGTTCCCGGCCCCGTGGATCCTACTTCTCTGTCGCCCGCGGTTCGCCGCCCCGCTCGCCGCCGCGATGCCAGTGTTTCATACGCGCACGATCGAGAGCATCCTGGAGCCGGTGGCACAGCAGATCTCCCACCTGGTGATAATGCACGAGGAGGGCGAGGTGGACGGCAAAGCCATTCCTGACCTCACCGCGCCCGTGGCCGCCGTGCAGGCGGCCGTCAGCAACCTCGTCCGG___GTTGGAAAAGAGACTGTTCAAACCACTGAGGATCAGATTTTGAAGAGAGATATGCCACCAGCATTTATTAA___GGTTGAGAATGCTTGCACCAAGCTTGTCCAGGCAGCTCAGATGCTTCAGTCAGACCCTTACTCAGTGCCTGCTCGAGATTATCTAATTGATGGGTCAAGGGGCATCCTCTCTGGAACATCAGACCTGCTCCTTACCTTCGATGAGGCTGAG___GTCCGTAAAATTATTAGAGTTTGCAAAGGAATTTTGGAATATCTTACAGTGGCAGAGGTGGTGGAGACTATGGAAGATTTGGTCACTTACACAAAGAATCTTGGGCCAG___GAATGACTAAGATGGCCAAGATGATTGACGAGAGACAGCAGGAGCTCACTCACCAGGAGCACCGAGTGATGTTGGTGAACTCGATGAACACCGTGAAAGAGTTGCTGCCAGTTCTCATTTCAG___CTATGAAGATTTTTGTAACAACTAAAAACTCAAAAAACCAAGG)CATAGAGGAAGCTTTAAAAAATCGCAATTTTACTGTAGAAAAAATGAGTGCTGAAATTAATGAGATAATTCGTGTGTTACAACTCACCTCTTGGGATGAAGATGCCTGGGCCAGCAAG|GTATCTACTGAGCGTTTCAGTCAACAATACAGCTCGTGTTCGACAATATTCCTTGATGACAGCACAGCCAGCCAGCATTATCTTACAATGACAATAATATC___TGTGACCTTGGAGATACCTCATCATATCACACAAAG___AGATGCAGATAGATCTTTGAGCATACCTGATGAACAGTTACACTCATTTGCG___GTTTCCACCGTGCACATTACGAAGAACAGAAATGGAGGTGGGAG(TTTAAATAACTATTCCTCCTCCATTCCATCGACTCCCAGCACCAGCCAGGAGGACCCTCAGTTCAGTGTTCCTCCCACTGCCAACACACCCACCCCCGTTTGCAAGCGGTCCATGCGCTGGTCCAACCTGTTTACATCTGAGAAAGGGAGTCACCCAGACAAAGAGAGGAAAGCCCCGGAGAATCATGCTGACACCATCGGGAGCGGCAGAGCCATCCCCATTAAACAGGGCATGCTCTTAAAGCGAAGTGGGAAATGGCTGAAGACATGGAAAAAGAAATACGTCACCCTGTGTTCCAATGGCGTGCTCACCTATTATTCAAGCTTAGGTGATTATATGAAGAATATTCATAAAAAAGAGATTGACCTTCGGACATCTACCATCAAAGTCCCAGGAAAGTGGCCATCCCTAGCCACATCGGCCTGTGCACCCATCTCCAGCTCTAAAAGCAATGGCCTATCCAAGGACATGGACACCGGGCTGGGTGACTCCATATGCTTCAGCCCCAGTATCTCCAGCACCACCAGCCCCAAGCTCAACCCGCCCCCCTCTCCTCATGCCAATAAAAAGAAACACCTAAAGAAGAAAAGCACCAACAACTTTATGATTGTGTCTGCCACTGGCCAAACATGGCACTTTGAAGCCACGACGTATGAGGAGCGGGATGCCTGGGTCCAAGCCATCCAGAGCCAGATCCTGGCCAGCCTGCAGTCATGCGAGAGCAGTAAAAGCAAGTCCCAGCTGACCAGCCAGAGCGAGGCCATGGCCCTGCAGTCGATCCAAAACATGCGTGGGAACGCCCACTGTGTGGACTATGAGACCCAGAATCCTAAGTGGGCCAGTTTGAACTTGGGAGTCCTCATGTGTATTGAATGCTCAGGAATCCACCGCAGTCTTGGCACCCGCCTTTCCCGTGTGCGATCTCTGGAGCTGGATGACTGGCCAGTTGAGCTCAGGAAGGTTATGTCATCTATTGGCAATGACCTAGCCAACAGCATCTGGGAAGGGAGCAGCCAGGGGCAGACAAAACCCTCAGTAAAGTCCACGAGGGAAGAGAAGGAACGGTGGATCCGTTCCAAATATGAGGAGAAGCTCTTTCTGGCCCCACTACCCTGCACTGAGCTGTCCCTGGGCCAGCACCTGCTGCGGGCCACCGCTGATGAGGACCTGCAGACAGCCATCCTGCTGCTGGCACATGGCTCCCGTGAGGAGGTGAACGAGACCTGTGGGGAGGGAGACGGCTGCACGGCGCTCCATCTGGCCTGCCGCAAGGGGAATGTGGTCCTGGCACAGCTCCTGATCTGGTACGGGGTGGACGTCATGGCCCGAGATGCCCACGGGAACACAGCGCTGACCTACGCCCGGCAGGCCTCCAGCCAGGAGTGCATCAACGTGCTTCTGCAGTACGGCTGCCCCGACGAGTGCGTGTAGTATCTGTTTTATTTGACTGCAGTCTCCTTGGTGCAAAAACAAAATGGGAAAAATAAGGATAACTCAGAATTTCAAAAGGAAATCACAAATTCAGCTAGTAATAGCATTTTCAGTACTTTTCATAAACTAAGTAAATACACAAAATGTTGATTTTTCTGACCATAAGACATATTTTATGTCCTTTTGCCAAGGTGGATGTGTTAGTCTCAGGCCCTCCTGGCCACATTGCCCAAGTCACACAGGCTTCTGTATTATGTATTTAGATAAAATGTGTGAAAATATATTTGAAAAAAAAGTTCATAAA)$ MPVFHTRTIESILEPVAQQISHLVIMHEEGEVDGKAIPDLTAPVAAVQAAVSNLVRVGKETVQTTEDQILKRDMPPAFIKVENACTKLVQAAQMLQSDPYSVPARDYLIDGSRGILSGTSDLLLTFDEAEVRKIIRVCKGILEYLTVAEVVETMEDLVTYTKNLGPGMTKMAKMIDERQQELTHQEHRVMLVNSMNTVKELLPVLISAMKIFVTTKNSKNQGIEEALKNRNFTVEKMSAEINEIIRVLQLTSWDEDAWASK|vsterfsqqysscstiflddstasqhyltmtiisvtleiphhitqrdadrslsipdeqlhsfavstvhitknrngggslnnysssipstpstsqedpqfsvpptantptpvckrsmrwsnlftsekgshpdkerkapenhadtigsgraipikqgmllkrsgkwlktwkkkyvtlcsngvltyysslgdymknihkkeidlrtstikvpgkwpslatsacapisssksnglskdmdtglgdsicfspsissttspklnpppsphankkkhlkkkstnnfmivsatgqtwhfeattyeerdawvqaiqsqilaslqscessksksqltsqseamalqsiqnmrgnahcvdyetqnpkwaslnlgvlmciecsgihrslgtrlsrvrslelddwpvelrkvmssigndlansiwegssqgqtkpsvkstreekerwirskyeeklflaplpctelslgqhllratadedlqtailllahgsreevnetcgegdgctalhlacrkgnvvlaqlliwygvdvmardahgntaltyarqassqecinvllqygcpdecv* 05BR004 ENSG00000260809.1 ENSG00000129636.13 +/+ -/+ chr16:35104834 chr16:47182756 exon intron deletion/5'-5' 2 1 1 7 5 medium . . . . . ENSG00000260809.1 ENSG00000129636.13 ENST00000563400.1 . downstream upstream . ^(GCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATTCCTG___GATAAAAACAAGCTTATGGATGCTCTAAAACATGCTTCTAATATGCTTGGTGAACTCCGGACTTCTATGTTATCACCAAAGAGCTACTATGAACTTT___ATATGTCCATTTCTGATAACTGCACTACTTGGAGGTCTACCTGACAGATGAGTTTGCTAAAGGAAGGAAAGTGGCAGATCTCTATGAACTTGTACAGTATGCTGGAAACATTATCCCAAGGCT___TTACCTTTTGATCACAGTTGGAGTTGTATATGCCAAGTCATTTCCTCAATCCAGGAAGGACATTTTGAAAGATTTGGTAGAAATGTGCCGTGGTGTGCAGCATCCCTTGAGGGGTCTGTTTCTTCGAAATTACCTTCTTCAGTGTACCAGAAATATCTTACTTGATGAAGGAGAGCCAACAGA___CGAAGAAACAACTAGCAATATCAGTGATTCCATGGATTTTGTACTGCTCAACTTTGCAGAAATGAACAAGTTCTGGGTGCGAATGCAGCATCAAGGACATAGCTGAGATAGAGAAAAAAGAGAGCGAGAAAGACAAGAACTGAGAATTTTAGTGGGAACACATTTGGTGCACCTCAGTCAGTTGGAAGGTGTAAATGTAGAACATTACAAACAG___ATTGTTTTGTCTGGCATATTGGAGCAAGTTGTAAACTGTAGGGATACTTTGGCTCAAGAATATCTCATGAGGTGTGTTATTCAG___GTTTTCCCTGATGAATTTCACCTCCAGACTTTGAATCCCTTTCTTCGAACCTGTGCTGAGTTACACCAGAATGTAAACGTGAAAAACATAATCATTGCTTTAATTGATAG___ATTAGCTTTATTTGCCACTGTGAAGATGGACCTGGAATCCCAGCAGATATTAAACTTTTTGATATATTTTCACAGCAGGTGGCTACAGTGATACAG___TCTAGACAAGACATGCCTTCAGAGGATGTTTTATCTTTACAAGTCTCTCTCGTTAATCTTGACATGAAATGTTACCCTGATCGTGTGGACTATATTGATAAAGTTCTAGAAACAGCAGCGGAGATATTCAATAAGCTCAACCTTGAACA___TATTTCCACCAGTAGTGCAGTTTCAAAGGAACTCACCAGACTTTTGAAAACACCAGCTGACACTTACAAAAATATTTTAACAGTCTTGAAATTAAAACATTTCACCCACTCTTTGAGTACTTTGACTATGAGTCCAGAAAGAGCATGAGTTGTTATGTGTTAAGTAGTGTTCTGGATTATAACACAGAAATTGTCTCTCAAG)ACCcG___GTGGATTCCATAATGAATTTGGTATCCACGTTGATTCAAGATCAGCCAGATCAACCTGTAGAAGACCCTGATCCAGAAGATTTTGCTGATGAGCAGAGCGTTGTGGGCCCTTCATTCATCTGCTGCGCTCTGAGGACCCTGACCAGCAGTACTTG|GTGGGAGGAGCCAAGATGGCCGAATAGGAAAAGCTCCGGTCTACAGCTCCCAGCGTGAGCAACGCAGAAGACGGGTGATTTCTGCATTTCCATCTGAGGTACCGG . 05BR004 ENSG00000187166.1(3020),ENSG00000258273.1(456) ENSG00000178078.11 ./- -/- chr12:48333299 chr19:4334044 intergenic CDS/splice-site translocation 3 0 0 7 93 medium . . . . . . ENSG00000178078.11 . ENST00000594605.5 upstream downstream . AGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCTGGCAGCCACCCCATCTGGGAA|GATTACAAGAAGTTCTGGGCAGGCCTGCAGGGTCTCACCATTTATTTCTACAATAGCAATCGGGACTTCCAG(___CACGTGGAGAAGCTCAACTTGGGAGCATTTGAGAAACTCACAGATGAGATTCCCTGGGGAAGCTCACGTGACCCTGGCACCCACTTCAGCCTGATTCTCCGGGATCAGGAGATCAAGTTCAAG___GTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAG___CTCCGTGTCCCGACCGACTTGACCCTGCTTCCTGGGCACCTATACATGATGTCTGAAGTCTTGGCCAAAGAGGAGGCGCGCCGTGCACTGGAGACACCCTC___GTGCTTCCTGAAGGTGAGCCGGCTGGAGGCACAACTGCTCCTGGAGCGCTACCCCGAGTGCGGGAACCTGCTGCTGCGGCCCAGCGGGGACGGCGCCGACGGCGTGTCGGTCACCACGCGGCAGATGCACAACGG___GACGCACGTGGTCCGGCATTACAAGGTGAAGCGGGAGGGCCCCAAGTACGTGATCGATGTGGAACAGCCG___TTCTCTTGCACCTCCCTGGACGCCGTGGTCAACTATTTCGTGTCGCATACCAAAAAGGCGCTGGTGCCATTCCTGTTAGACGAGGACTACGAGAAGGTGCTAG___GCTACGTGGAAGCCGATAAGGAGAATGGCGAGAATGTGTGGGTGGCGCCCTCCGCTCCGGGCCCAG___GTCCTGCACCCTGCACAGGTGGCCCCAAGCCGCTGTCACCTGCGTCTAGCCAGGACAAGCTGCCCCCACTGCCCCCACTACCGAACCAGGAAGAGAACTACGTGACCCCCATTGGAGATGGCCCAGCTGTTGACTATGAGAACCAAGATG___TGGCTTCCTCTAGTTGGCCAGTCATCCTGAAGCCAAAGAAGTTGCCAAAGCCTCCTGCCAAGCTTCCAAAGCCACCCGTTGGACCCAAGCCAG___AGCCCAAAGTCTTTAATGGTGGCTTGGGCAGGAAGCTGCCAGTCAGTTCAGCCCAGCCTCTCTTCCCCACAGCCG___GGCTGGCAGACATGACGGCAGAGCTACAGAAGAAGCTGGAGAAGAGGCGGGCACTGGAGCACTGATTCGGACACACCAGGGACCAGCGGGCTAGTCCCAGGGCATGGCCCAGCGGCCAGATTCTTTTTCCCAGGATTAAAACTCTGACCCCAGGA)$ . 05BR005 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 21 7 0 107 98 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(3),mismatches(3) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGA)AGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05BR005 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 5 0 19 25 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismatches(1) GGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAG(CGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05BR005 ENSG00000198231.13 ENSG00000108506.12 +/+ -/+ chr17:63811173 chr17:61924916 CDS/splice-site intron duplication/5'-5' 5 7 0 333 61 high out-of-frame . DEAD/DEAH_box_helicase(100%)| . . ENSG00000198231.13 ENSG00000108506.12 ENST00000578681.5 . downstream upstream duplicates(1) ^(CAAGAGTGTCGCTCTAGTAGTATATGCAACAGTTTAAACTATAGGCATGTTCATGTAAATATGGTTTCTGTCCAACCCGTTTTCTCTTGGGATTTTTGGCTAGCCCCTTGACGCCACTTTTTCTTCATTCGCAGACCCACTTTCTAGATGGGTCATGAACACTGTCCACCCAACTGCAGTTTCCCGTCAGAGTATCTGAGGAGCCTGTGAGGCGTTCTGGAGCTTTAAGGTCAGGCGCCTTCCGGGAGCCGTAGCCCCGGCCCCGCCCTTCTGCCCGCGCGTTCCTCACTGCGCATGTCGCGTTTTTGTTCCCCTCCCCCCTTCAGCAACGGGCCGTGAGGCGGTGGCGGTGGTGGCGGTGGCGGCGGCGGTGGTGGTGGTGGCGGCGGCGGCGGCGAAGGGGGCGGAGAGGAAGGAGCGCGGCGGGACCGGGCCGGGACAGCGCGTACTTTGGGCTCCGGGATTCGCTCCGCGCCCGCGGTTGTAGCAGCTGCCGCTGCAGCCATAGCAGCAG___GACTTCCTCAAGCGCAGGGACTATGTCTTAAGGCGCTTTGCAGAGCCAAGCTCATTTCTGGCACATAAGAG___GTCAGTCATTGGCACCATGAACTGGAATAAAGGTGGTCCTGGCACTAAGCGAGGATTTGGCTTTGGAGGTTTTGCCATCAGTGCTGGGAAAAAGGAGGAACCCAAACTCCCACAGCAGTCCCACAGTGCCTTTGGGGCAACCAGCTCTTCTTCTGGATTTGGAAAGTCAGCTCCACCACAGCTTCCTTCTTTCTACAAAATTGGATCTAAGCGGGCCAACTTTGATGAAGAAAATGC___CTATTTTGAAGATGAGGAAGAAGATTCTAGCAACGTTGATTTACCTTACATTCCTGCTGAAAACTCACCAACTCGCCAGCAATTCCATTCCAAGCCAGTAGATTCTGACAGCGATGATGATCCCTTGGAGGCATTCATGGCTGAAGTGGAG___GATCAGGCAGCTAGAGACATGAAGAGGCTTGAAGAAAAGGACAAGGAAAGAAAAAACGTAAA___GGGTATTCGAGATGACATTGAAGAGGAAGATGACCAA___GAAGCTTATTTTCGATACATGGCAGAAAACCCAACTGCTGGTGTGGTTCAGGAGGAAGAGGAAGACAATCTAGAATATGATAGTGACGGAAATCCAATTGCACCTACCAAAAAAATCATTGATCCTCTTCCCCCCATTGATCATTCAGAG___ATTGACTATCCACCATTTGAAAAAAACTTTTACAATGAGCATGAAGAGATAACCAACCTCACTCCACAGCAGTTAATAGATCTCCGGCATAAGCTCAATCTTCGG___GTCTCTGGTGCTGCACCTCCTAGACCAGGAAGTAGCTTTGCTCATTTTGGGTTTGACGAACAACTTATGCACCAGATTCGGAAATCTGAATACACACAGCCCACTCCAATACAGTGCCAG___GGTGTGCCTGTGGCATTAAGTGGTAGAGACATGATTGGTATTGCCAAAACAGGTAGTGGGAAAACTGCAGCCTTCATTTGGCCCATGTTGATTCATATAATGGACCAGAAGGAGTTGGAACCAGGTGATGGACCAATTGCAGTGATTGTGTGTCCTACCAGGGAGCTTTGCCAGCAG___ATCCATGCAGAATGTAAGCGGTTTGGAAAAGCATATAATCTTCGATCAGTGGCCGTATATGGAGGAGGGAGTATGTGGGAGCAGGCCAAGGCCCTTCAGGAGGGGGCAGAGATTGTTGTGTGTACCCCA___GGTCGACTGATAGATCATGTGAAAAAGAAAGCTA)CCAATCTTCAAAGAGTCTCTTACCTTGTGTTTGATGAAGCAGATCGAATGTTTGACATGGGATTTG___AGTACCAAGTTCGATCCATAGCAAGTCATGTTCGTCCTGACAGGCAGA___CTCTCTTATTTAGTGCAACTTTTCGGAAGAAGATTGAAAAGTTGGCCAGAGACATCCTGATCGACCCTATTCGAGTGGTGCAGGGAGATATTGGAGAG|ACATCAAATCATGCATACTTTGAGCTGTGGTTAAAAGAAATGCACCTTGTTCATAATTGCCAACAGTTCACTAAGCACAAGACGCAATCGACGAGGTGAATCACTGTGTTCAAACTCTAACGTCAGTCCATGCTGAAGCTGTGATACCAGGATGCTCTCTCCACTGCCTCCTCCAAGTTTATGCCTAATGAAGTACAAAACATGTAACAATTATGAAAACACTGATATGGAA MNWNKGGPGTKRGFGFGGFAISAGKKEEPKLPQQSHSAFGATSSSSGFGKSAPPQLPSFYKIGSKRANFDEENAYFEDEEEDSSNVDLPYIPAENSPTRQQFHSKPVDSDSDDDPLEAFMAEVEDQAARDMKRLEEKDKERKNVKGIRDDIEEEDDQEAYFRYMAENPTAGVVQEEEEDNLEYDSDGNPIAPTKKIIDPLPPIDHSEIDYPPFEKNFYNEHEEITNLTPQQLIDLRHKLNLRVSGAAPPRPGSSFAHFGFDEQLMHQIRKSEYTQPTPIQCQGVPVALSGRDMIGIAKTGSGKTAAFIWPMLIHIMDQKELEPGDGPIAVIVCPTRELCQQIHAECKRFGKAYNLRSVAVYGGGSMWEQAKALQEGAEIVVCTPGRLIDHVKKKATNLQRVSYLVFDEADRMFDMGFEYQVRSIASHVRPDRQTLLFSATFRKKIEKLARDILIDPIRVVQGDIGE|tsnhayfelwlkemhlvhncqqftkhktqstr* 05BR005 ENSG00000120733.14 ENSG00000275740.1 +/+ +/- chr5:138427319 chr5:146300684 CDS/splice-site intron inversion/3'-3' 3 3 0 90 22 high out-of-frame . . . . ENSG00000120733.14 ENSG00000275740.1 ENST00000314358.10 . downstream downstream duplicates(2) ^(GAACGGCGGCCGCGGGTGGTGCGGAGGGAGGCCTTGCGGGCGGATCGGGCGCTTGGCGGCGGAGGTGGTGGGAGGCGGCGGGCGGGAGCGCGGGTCAGGCCGGCCCCGGCGATGGCGGACGCGGCGGCCTCCCCGGTGGGCAAGCGGCTGCTGCTGCTGTTCGCGGACACTGCGGCCTCAGCCTCGGCCTCGGCTCCCGCGGCGGCAGCGGCGAGCGGAGATCCGGGGCCTGCGCTGCGCACTCGAGCCTGGCGGGCCGGCACGGTGCGGGCCATGAGCGGGGCGGTGCCCCAGGACCTAGCG___ATCTTTGTAGAATTTGATGGCTGTAACTGGAAGCAACACTCCTGGGTAAAAGTTCATGCTGAGGAAGTTATCGTGCTTCTGCTGGAAGGGTCTCTTGTATGGGCGCCCCGTGAGGACCCAGTCCTTCTCCAGGGCATTCGAGTCTCCATTGCACAATGGCCAGCCCTG___ACTTTTACTCCCCTTGTAGATAAACTGGGTTTGGGTTCTGTGGTTCCAGTGGAATATCTTCTGGATCGAGAGCTTCGGTTCCTGTCAGATGCCAATGGGTTGCATCTGTTTCAG___ATGGGAACAGATAGCCAAAACCAGATTCTTTTGGAACATGCTGCACTGAGAGAAACAGTTAATGCTTTGATCAGTGACCAAAAGCTACAAGAGATATTCAGCCGAG___GTCCCTACAGTGTTCAAGGTCACAGGGTCAAAATATATCAGCCAGAGGGGGAAGAAGGGTGGCTCTATGGTGTTGTGAGCCATCAGGACTCCATCACTCGTCTTATGGAGGTGTCTGTAACTGAG___AGTGGTGAGATCAAGTCGGTAGATCCCAGACTAATCCATGTGATGCTGATGGATAATTCAGCGCCTCAAAGCGAG___GGGGGTACGTTAAAAGCAGTAAAATCTTCCAAAGGAAAGAAGAAGAGAGAAAGCATAGAGGGGAAAGATGGCCGGAGGAGGAAAAGTGCTTCGGACTCTGGGTGTGACCCTGCATCAAAGAAATTAAAAGGAGACAGGGGTGAAGTAGACAGTAATGGGAGCGATGGAGGTGAGGCAAGCCGAGGGCCCTGGAAAGGAGGGAATGCCAGTGGAGAGCCAGGGCTGGATCAGAGAGCCAAGCAGCCACCGTCTACATTTGTCCCCCAGATAAACCGCAACATTCGCTTTGCCACTTACACCAAAGAAAACGGCAGGACTCTGGTGGTGCAGGATGAGCCTGTAGGTGGGGACACACCTGCATCTTTCACTCCATATTCTACAGCCACAGGTCAGACACCTTTGGCCCCAGAGGTGGGTGGAGCCGAAAACAAAGAGGCAGGAAAAACACTGGAACAAGTTGGCCAGGGCATAGTGGCTTCCGCAGCTGTGGTCACTACCGCCAGCTCCACCCCAAACACAGTGAGGATCTCAGACACTGGCCTTGCAGCAGGGACTGTGCCAGAAAAACAGAAAGGCAGCCGGTCGCAGGCCTCGGGAGAG___AATTCAAGAAATTCTATTCTGGCCTCTTCTGGATTTGGAGCACCTCTCCCTAGTTCATCGCAACCTTTGACTTTTGGAAGTGGAAGGAGCCAGTCCAATGGTGTTCTAGCCACAGAGAACAAACCTTTGGGCTTCTCTTTTGGCTGTAGCTCTGCACAAGAGGCACAGAAAGACACTGATCTCTCCAAAAACTTGTTTTTTCAATGCATGTCCCAAACTTTACCTACCAGTAACTACTTCACTACTGTTTCAGAGAGTTTGGCTGATGATTCTTCTAGTCGGGACTCATTCAAACAAAGCCTTGAGAGCCTGAGCTCAGGCCTGTGTAAAGGCAGATCCGTTCTTGGAACAGACACTAAGCCAGGCTCTAAGGCTGGCAGCTCTGTGGACCGGAAAGTGCCTGCAGAGTCCATGCCCACCCTCACTCCAGCCTTCCCACGGAGCCTCCTAAATGCCCGTACCCCAGAGAATCATGAAAATCTATTTTTACAGCCCCCCAAATTGTCCCGAGAAGAGCCTTCTAATCCTTTCCTGGCATTTGTGGAGAAAGTTGAACACAGCCCTTTCAGTAGTTTTGCATCTCAGGCATCAGGTAGCTCCTCTTCTGCTACCACTGTCACCTCCAAGGTGGCACCCAGCTGGCCCGAGTCTCACTCCTCTGCAGATTCGGCATCTTTAGCAAAGAAGAAACCCCTCTTCATTACAACTGACTCCTCCAAGCTAGTATCTGGTGTTCTGGGCTCAGCTCTTACCAGTGGGGGCCCAAGCCTCTCTGCCATGGGGAATGGCCGCTCCAGCTCGCCCACCAGCAGCCTCACTCAGCCCATTGAGATGCCAACTCTCTCCTCTAGCCCCACAGAGGAGAGGCCAACTGTGGGGCCTGGGCAGCAGGACAATCCCCTCCTCAAAACCTTTAGTAACGTCTTTGGCAGGCACTCAGGCGGCTTTCTGTCCTCCCCGGCAGATTTTTCACAGGAGAACAAAGCTCCTTTTGAAGCTGTGAAAAGGTTCTCACTGGATGAACGAAGCTTGGCTTGCAGACAAGACTCGGACTCCAGCACCAACAGTGACCTGTCAGATTTGAGTGACTCTGAGGAGCAGCTGCAGGCTAAGACAGGCCTGAAGGGAATTCCAGAGCACCTGATGGGGAAGCTGGGCCCCAATGGGGAGCGCAGTGCTGAGCTGTTGCTGGGCAAAAGCAAAGGGAAGCAGGCCCCCAAGGGCCGGCCTCGGACTGCCCCCCTGAAAG___TTGGCCAGTCAGTGCTGAAAGATGTAAGCAAAGTGAAGAAGCTGAAGCAATCTGGAGAGCCCTTCCTGCAGGATGGGTCATGCATCAATGTGGCACCTCATCTGCACAAGTGTCGTGAATGCCGCCTGGAGCGGTACCGGAAGTTTAAGGAACAGGAGCAAGATGATTCTACTGTAGCCTGCCGTTTCTTTCACTTCCGGAG___GTTGATCTTCACTCGAAAAGGGGTACTCCGTGTGGAGGGGTTTTTAAGCCCCCAGCAAAGTGACCCTGATGCCATGAACCTGTGGATTCCCTCTTCCTCCCTAGCAGAAGGGATAGATCTAGAGACCTCAAAATACATCCTGGCCAATGTTGGGGACCAGTTCTGCCAGCTCGTAATGTCTGAGAAGGAGGCCATGATGATGGTGGAGCCACACC___AGAAAGTGGCATGGAAGCGAGCTGTGCGTGGTGTACGGGAGATGTGTGATGTGTGTGAAACAACTCTCTTCAACATCCACTGGGTTTGTCGCAAATGTGGATTTGGGGTCTGCCTTGACTGTTACCGGCTCAGGAAAAGCCGGCCACGCAGTG___AGACAGAAGAGATGGGTGATGAAGAAGTTTTCTCCTGGTTGAAGTGTGCAAAGGGACAGTCCCACGAACCAGAGAATCTCATGCCCACACAAATTATTCCTGGCACAG___CTCTTTACAATATTGGAGACATGGTACATGCTGCCCGGGGCAAGTGGGGAATTAAAGCAAACTGCCCTTGTATCAGTCGACAGAACAAATCTGTATTGAGACCTGCCGTCACCAATGGGATGTCACAG___CTTCCTAGCATAAACCCTAGTGCCTCTTCTGGAAACGAAACTACCTTCTCTGGTGGAGGAGGACCGGCACCAGTAACAACTCCAGAGCCGGACCATGTTCCCAAAGCCGACAGCACTGACATCAGATCTGAAGAGCCTCTGAAAACAGACAGTTCGGCATCAAATAGCAATAGTGAACTGAAAGCCATCAGGCCTCCTTGCCCTGACACGGCCCCACCCTCCTCCGCCCTGCACTGGTTGGCAGATTTAGCAACTCAGAAGGCTAAAGAAGAAACAAAAG___AAGCAGGGTCCCTGAGGTCGGTGCTCAATAAAGAGTCTCATTCACCCTTTGGGCTGGACTCGTTCAACTCCACTGCAAAGGTCTCTCCGCTGACTCCAAAGCTTTTTAACAGTCTGTTGCTGGGTCCCACTGCCTCCAACAACAAAACCGAAGGGTCTAGCCTTCGAGACCTCCTTCACTCCGGGCCGGGAAAACTTCCTCAAACCCCCTTGGACACAGGCATACCCTTTCCCCCGGTCTTCTCTACATCCTCAGCA___GGAGTGAAGAGCAAGGCCAGCCTACCCAACTTTCTTGACCACATCATTGCCTCAGTGGTAGAAAATAAGAAAACCTCAGATGCTTCAAAGCGGGCCTGCAACTTGACTGATACCCAGAAGGAAGTGAAGGAGATGGTGATGGGGTTAAATGTGCTAGATCCCCATACTTCTCACTCCTGGCTTTGTGATGGGAGGCTTCTGTGTCTCCATGACCCCAGCAACAAAAACAATTGGAAGATCTTCCGGGAGTGTTGGAAGCAAGGTCAG___CCAGTGCTGGTTTCGGGGGTACATAAAAAGCTCAAGTCTGAGCTCTGGAAGCCAGAAGCCTTTAGCCAGGAATTTGGAGACCAGGATGTAGACTTGGTGAACTGCAGGAACTGTGCTATAATTTCCGATGTGAAAGTTCGGGATTTCTGGGATGGTTTCGAGATCATATGCA___AACGACTACGGTCAGAAGATGGGCAGCCAATGGTGCTCAAACTCAAGGACTGGC)CTCCTGGGGAAGATTTTCGAGACATGATGCCAACCAG___GTTTGAAGATCTGATGGAGAACCTTCCTCTGCCAGAATATACCAAACGAGATGGCAGGCTCAATCTGGCCTCTAGGCTACCTAGCTACTTTGTAAGGCCTGATCTGGGCCCCAAGATGTACAACGCCTATG|GTGCTTACCCTTTGGGGTGACAGTGGAGTGTTAGAATGGAATCCACAG___GTGTTTTTTCCCTTCTCCCTATTCTACTTAAGGAAAATGTCCCTCCTACTGATGGCAG MADAAASPVGKRLLLLFADTAASASASAPAAAAASGDPGPALRTRAWRAGTVRAMSGAVPQDLAIFVEFDGCNWKQHSWVKVHAEEVIVLLLEGSLVWAPREDPVLLQGIRVSIAQWPALTFTPLVDKLGLGSVVPVEYLLDRELRFLSDANGLHLFQMGTDSQNQILLEHAALRETVNALISDQKLQEIFSRGPYSVQGHRVKIYQPEGEEGWLYGVVSHQDSITRLMEVSVTESGEIKSVDPRLIHVMLMDNSAPQSEGGTLKAVKSSKGKKKRESIEGKDGRRRKSASDSGCDPASKKLKGDRGEVDSNGSDGGEASRGPWKGGNASGEPGLDQRAKQPPSTFVPQINRNIRFATYTKENGRTLVVQDEPVGGDTPASFTPYSTATGQTPLAPEVGGAENKEAGKTLEQVGQGIVASAAVVTTASSTPNTVRISDTGLAAGTVPEKQKGSRSQASGENSRNSILASSGFGAPLPSSSQPLTFGSGRSQSNGVLATENKPLGFSFGCSSAQEAQKDTDLSKNLFFQCMSQTLPTSNYFTTVSESLADDSSSRDSFKQSLESLSSGLCKGRSVLGTDTKPGSKAGSSVDRKVPAESMPTLTPAFPRSLLNARTPENHENLFLQPPKLSREEPSNPFLAFVEKVEHSPFSSFASQASGSSSSATTVTSKVAPSWPESHSSADSASLAKKKPLFITTDSSKLVSGVLGSALTSGGPSLSAMGNGRSSSPTSSLTQPIEMPTLSSSPTEERPTVGPGQQDNPLLKTFSNVFGRHSGGFLSSPADFSQENKAPFEAVKRFSLDERSLACRQDSDSSTNSDLSDLSDSEEQLQAKTGLKGIPEHLMGKLGPNGERSAELLLGKSKGKQAPKGRPRTAPLKVGQSVLKDVSKVKKLKQSGEPFLQDGSCINVAPHLHKCRECRLERYRKFKEQEQDDSTVACRFFHFRRLIFTRKGVLRVEGFLSPQQSDPDAMNLWIPSSSLAEGIDLETSKYILANVGDQFCQLVMSEKEAMMMVEPHQKVAWKRAVRGVREMCDVCETTLFNIHWVCRKCGFGVCLDCYRLRKSRPRSETEEMGDEEVFSWLKCAKGQSHEPENLMPTQIIPGTALYNIGDMVHAARGKWGIKANCPCISRQNKSVLRPAVTNGMSQLPSINPSASSGNETTFSGGGGPAPVTTPEPDHVPKADSTDIRSEEPLKTDSSASNSNSELKAIRPPCPDTAPPSSALHWLADLATQKAKEETKEAGSLRSVLNKESHSPFGLDSFNSTAKVSPLTPKLFNSLLLGPTASNNKTEGSSLRDLLHSGPGKLPQTPLDTGIPFPPVFSTSSAGVKSKASLPNFLDHIIASVVENKKTSDASKRACNLTDTQKEVKEMVMGLNVLDPHTSHSWLCDGRLLCLHDPSNKNNWKIFRECWKQGQPVLVSGVHKKLKSELWKPEAFSQEFGDQDVDLVNCRNCAIISDVKVRDFWDGFEIICKRLRSEDGQPMVLKLKDWPPGEDFRDMMPTRFEDLMENLPLPEYTKRDGRLNLASRLPSYFVRPDLGPKMYNAY|gayplg* 05BR005 ENSG00000197813.6 ENSG00000159217.10 -/- +/+ chr19:49334674 chr17:49043427 intron intron translocation 5 1 0 13 19 high . . |KH_domain(100%) . . ENSG00000197813.6 ENSG00000159217.10 . ENST00000290341.8 upstream upstream . TTTATTTATATATTTGTTTCTTTTTGAGACAGGGTCTCACTTTTCACCCAGGCTGGAGTACGGTGGGGAAAACAGCTCACTGTAGCCTGGGCTCAAGCTATCCTCCCACCTCTGCCTTCTGAGTAGCTGGGATTACAGGTGCACACTACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAAATGGGGTCTTGCTATGGAGTGGGAGTGTTGTATTTTTTATATTTAATTAA|GCTGCAGTCTCACCTGATCCCTGGCCTGAACCTGGCTGCTGTAGGTCTTTTCCCAGCTTCATCCAGCGCAGTCCCGCCGCCTCCCAGCAGCGTTACTGGGGCTGCTCCCTATAGCTCCTTTATG(___CAGGCTCCCGAGCAGGAGATGGTGCAGGTGTTTATCCCCGCCCAGGCAGTGGGCGCCATCATCGGCAAGAAGGGGCAGCACATCAAACAGCTCTCCCGGTTTGCCAGCGCCTCCATCAAG___ATTGCACCACCCGAAACACCTGACTCCAAAGTTCGTATGGTTATCATCACTGGACCGCCAGAGGCCCAATTCAAG___GCTCAGGGAAGAATCTATGGCAAACTCAAGGAGGAGAACTTCTTTGGTCCCAAGGAGGAAGTGAAGCTGGAGACCCACATACGTGTGCCAGCATCAGCAGCTGGCCGGGTCATTGGCAAAGGTGGAAAAACG___GTGAACGAGTTGCAGAATTTGACGGCAGCTGAGGTGGTAGTACCAAGAGACCAGACCCCTGATGAGAACGACCAGGTCATCGTGAAAATCATCGGACATTTCTATGCCAGTCAG___ATGGCTCAACGGAAGATCCGAGACATCCTGGCCCAGGTTAAGCAGCAGCATCAGAAGGGACAGAGTAACCAGGCCCAGGCACGGAGGAAGTGACCAGCCCCTCCCTGTCCCTTCGAGTCCAGGACAACAACGGGCAGAAATCGAGAGTGTGCTCTCCCCGGCAGGCCTGAGAATGAGTGGGAATCCGGGACACCTGGGCCGGGCTGTAGATCAGGTTTGCCCACTTGATTGAGAAAGATGTTCCAGTGAGGAACCCTGATCTCTCAGCCCCAAACACCCACCCAATTGGCCCAACACTGTCTGCCCCTCGGGGTGTCAGAAATTCTAGCGCAAGGCACTTTTAAACGTGGATTGTTTAAAGAAGCTCTCCAGGCCCCACCAAGAGGGTGGATCACACCTCAGTGGGAAGAAAAATAAAATTTCCTTCAGGTTTTAAAAACATGCAGAGAGGTGTTTTAATCAGCCTTAAAGGATGGTTCATTTCTTGACCTTAATGTTTTTCCAATCTTCTTCCCCCTACTTGGGTAATTGATTAAAATACCTCCATTTACGGCCTCTTTCTATATTTACACTAATTTTTTTATCTTTATTGCTACCAGAAAAAAATGCGAACGAATGCATTGCTTTGCTTACAGTATTGACTCAAGGGAAAAGAACTGTCAGTATCTGTAGATTAATTCCAATCACTCCCTAACCAATAGGTACAATACGGAATGAAGAAGAGGGGAAAATGGGGAGAAAGATGGTTAAAATACATAATAATCCACGTTTAAAAGGAGCGCACTTGTGGCTGATCTATGCCAGATCACCATCTTCAAATTGGCACAACTGAAATTTCCCCACTCTGTTGGGGCTTCCCCACCACATTCATGTCCCTCTCCCGTGTAGGTTTCACATTATGTCCAGGTGCACATAGGTGGTATTGAATGCTCAGCAGGGTAGGGGCTGACCACTGTCCCTGATTCCCATCGTTCTCAGGCGGATTTTATATTTTTTTAAAGTCTATTTTAATGATTGGATATGAGCACTGGGAAGGGGACGCTAACTCCCCTTGATAAAGTCTCGGTTCCATGGAGGACTTGAGTGGCCCCAAAGGCTGCCACGGTGCCCTCACCCCAGCCCATGTGCTCCCATAAGGGCTGGTTCCTAGAGGCAGGGGTTGTGGGGCACTCCCAGCCACGGCACTGTTACCTTGGTGGTGGGACTTGGAACCCAACCCTGAGCTCCCGATAAAGCTAAAGTCCATCATCTGGCAAATTCAGTAAATTGGAGAGTACTTGCTTCTGTTTGTATCTGAGAGGAATTTTTAACTGACGGCTTCTGTCTCCATGAATCATTATCAGCATGATGAAAGGTGTGTCTAAAAAACAATTCAGAATACCAGCAGCATTGTACAGCAAGGGGTAAATAAGCTTAATTTATTAATTTACCAGGCTTAATTAAGATCCCATGGAGTGTTTAGCCCTTGTGGGAGACAGAAGCCATCAGTTAAATGAGGTTAGGCCTCTCCTCCTAATATACTGATTGACAATGCATATTAGCCAGGTAATGCACTTTAGCTACCCTGGACAATGCTATCAAGTGTGCTGGGAAGGGAGGAAGGCCTCTCTACATATGGAAAAGCCCATGCGTGGAGTTCCCCTCCTTTCAACATTGCAACAACAGTAACAACAAGACAACCGCAACATGTGGGCGTAGTCAGGCAATGCTGTGTGCGAAGTAAACTACCTCAAGGTATGAAGTTACCTCAGCAATTATTTTCCTTTTTGTTCCCCCCAACCCCATTAAAAAAATTTTTTTTTGATTTTTGTTTTTTTGCAGCTTGCTGATATTTTATATAAAAAAGAAAAGCAAAGCAAAAGAGAAGCTGATAGTCTTGAATATTTTATTTTTTTAATGAAAAGAAAAAACAAGAAAGTTATGTTTCATAATTTCTTACAACATGAGCCAGTAACCCTTTAGGAACTCTCTATGGAGAACAGGCCTGGTGGGAAAGGCTTTGGGGGCTGCCCCCTTAGGAGGAGGCTAGTGCTAAGAGGGAAGGCCCAGGTTTGAGAGAGCCCAGAGGGGCAGAGCCCAGAGCCTTGTTTGGCCCTGATCTCTGACTTCTAGAGCCCCAGCTGCTGGCGGCTGCTGGAATATCCTACCTGATAGGATTAAAAGGCCTAGTGGAGCTGGGGGCTCTCAGTGGTTAAACAATGCCCAACAACCAACCAGCTGGCCCTTGGTCTCCTCTCTTTCCTCCTTTGGTTAAAGAGCATCTCAGCCAGCTTTTCCCACCAGTGGTGCTGTTGAGATATTTTAAAATATTGCCTCCGTTTTATCGAGGAGAGAAATAATAACTAAAAAATATACCCTTTAAAAAAACCTATATTTCTCTGTCTAAAAATATGGGAGCTGAGATTCCGTTCGTGGAAAAAAGACAAGGCCACCCTCTCGCCCTCAGAGAGGTCCACCTGGTTTGTCATTGCAATGCTTTTCATTTTTTTTTTTTGTTATTGTTTCATTTCAGTTCCGTCTTGCTATTCTTCCTAATCTATATCCATAGATCTAAGGGGCAAACAGATACTAGTTAACTGCCCCCACCTCTGTCTCCCTGTCTTCTTTAGATCGGTCTGATTGATTTTAAAAGTGGACCCAAACTTAGGGAATTCTTGATTTAGGGTGGCTGGTGGCAAGGAGGGGCAGGGGATATGGGGACGTGACTGGGACAGGTTCCTGCCTTATCATTTTCTCCCTAGGACATTCCCTTGTAGCCCCCAGAATTGTCTGGCCCAAATTGAATAGAAGCAGAAAAACATTTAGGGATAACATCAGGCCAGTAGAATTAAGCCTCTCCACCTGTCCCAACCATAAAAAGGGTCTCCCAGCTTTCCATCTCTGGCTCTATATGCTTTATCCCAAAACAAAGCAGATAACGTTCAGACGTCGGCCATTTAGTAATTTAAAGCGAATTTCCAGCAGCAAGCATGCTTTGATATCTGGTTCAGACTATCATCAGGAAGAAAAAAAAATCCCACAGTACCTGAAATGTGATTGTTGCAGTGTTCAGTTTCCTTGGGGGCCTGCTCCCTTCACACCTTGAGCCCAAGTCCTTTTCCGTTGGCTGATTCAGCTCCCAGAAGAGACGAGGAAGTGTGTGGCAAGGGACTGGAAAACTTCACTTGCTTGGATTAGGCAAGGCTCCACTCATTGTTGATATTTGCCCAGCAGGAAAATCATGTAAGTTATACCACCAGAAAGCAAAAGGAGCATGGTTTGGTGGTTAAGGTTTAGTGGGATGAAGGACCTGTCTTGGTGGGCCGGGCCCTCTTGTGCCCCGTAGGCTAGGTCTTAGGGCAACTCCTTGCCCTCCTGCTCAGCACCTCCATTTCCCCATCCTTGGTGAGATAACAAGCTATCGCGAAAAGCACTTGGGAGATTTGGATGATTTGAGAAGAGTGACTTAAAAAAAATGCTTCTGTGCTCTAAGATATATATGTGTGTGTGTGTGCTACATATATATTTTTAAGAAAGGACCATCTCTTTAGGATATATTTTTAAATTCTTTGAAACACATAACCAAAATGGTTTGATTCACTGACTGACTTTGAAGCTGCATCTGCCAGTTACACCCCAAATGGCTTTAATCCCCTCTCGGGTCTGGTTGCCTTTTGCAGTTTGGGTTGTGGACTCAGCTCCTGTGAGGGGTCTGGTTAGGAGAGAGCCATTTTTAAGGACAGGGAGTTTTATAGCCCTTTTCTACTTTCCTCCCCTCCTCCCAGTCCTTATCAATCTTTTTTCCTTTTTCCTGACCCCCTCCTTCTGGAGGCAGTTGGGAGCTATCCTTGTTTATGCCTCACTATTGGCAGAAAAGACCCCATTTAAAACCCAGAGAACACTGGAGGGGGATGCTCTAGTTGGTTCTGTGTCCATTTTCCTCTGTGCCAAAGACAGACAGACAGAGGCTGAGAGAGGCTGTTCCTGAATCAAAGCAATAGCCAGCTTTCGACACATACCTGGCTGTCTGAGGAGGAAGGCCTCCTGGAAACTGGGAGCTAAGGGCGAGGCCCTTCCCTTCAGAGGCTCCTGGGGGATTAGGGTGTGGTGTTTGCCAAGCCAAGGGGTAGGGAGCCGAGAAATTGGTCTGTCGGCTCCTGGTTGCACTTTGGGGAAGGAGAGGAAGTTTGGGGCTCCAGGTAGCTCCCTGTTGTGGGACTGCTCTGTCCCCTGCCCCTACTGCAGAGATAGCACTGCCGAGTTCCCTTCAGGCCTGGCAGACGGGCAGTGAGGAGGGGCCTCAGTTAGCTCTCAAGGGTGCCTTCCCCTCCTCCCAACCCAGACATACCCTCTGCCAAACTGGGAACCAGCAGTGCTAGTAACTACCTCACAGAGCCCCAGAGGGCCTGCTTGAGCCTTCTTGCTCCACAGGAGAAGCTGGTGCCTCTAGGCAACCCCTTCCTCCCACCTCTCATCAGGGGTGGGGGTTCTCCTTTCTTTCCCCTGAAGTGTTTATGGGGAGATCCTAGTGGCTTTGCCATTCAAACCACTCGACTGTTTGCCTGTTTCTTGAAAACCAGTAGAAGGGAAACAGCACAGCCTGTCACAGTAATTGCAGGAAGATTGAAGAAAAATCCTCATCAATGCCAGGGGACATAAAAGCCATTTCCCTTCCAAATACTCGACAATTTAGATGCAGAACATTTCTCTGTATTCAGACTTAGAGTAACACCAGCTGAAAACTGCAGTTTCTTTCCTTTGGATACATAAGGCTTCTCTATCGGGGTACGGGACAGGGAGGAGGCCTCATGTCTGAAGGGGGATTTAGGGGCGAGAGCCCCAGCCCTGACCCTCGGTCCTGTGCACCGCTTTGGGGCACAGTCTGATGGCGCCTTTGCTGGCGCCTTAGTATGGTTGACTCCGGATGGACAAAAGAAAAAAAATTTTTTTTCTTGAATGAAATAGCAGGAAGCTCCTCGGGAGCATGTGTTTTGATTAACCGCAGGTGATGGATGCTACGAGTATAAATGGATTAACTACCTCAATCCTTACAGTAAGATTGGAACTAAGGGCAGGGACTCATGCATAAGGGTATGAATCCCAGCCAGGACAAGTGAGTTGAGGCTTGTGCCACAAAAGGTTTGTCCTTGGGGAACAGGCAGGCCTGCCAGGATCCCCCCCATATCGATTGGGCTGGGAGGGCTGGCCATGAGGTCCCCACTTTCTGCTTTCCTTGCCCATGTGTCACCCCTTTGGCCTCCAGCTTGTCCCTCTCTCACTTTCTATAGCTTTGTTGGACCAGATGGTGAGGAAAGGAATGGCCTCTTCCCTTCTAGAGGGGGCTGGCTGGAGTGAGACCTGGGGCTTGGCCTGGAACCCACCACACAGCCCCAAAGTCAGGAAGCCTGGGGAAACCAGAGCTGAGACCTCTTCAACAGGGTTTCTTTGAGATCCTACACCTCCATTGGGCCCTTTTTCAGTCTTCAATGGGGGCCCAGTTGGCTCTAGAAGGAGAAGAGGTGAAGCAGGATCCTTTGCCCTGGGGGAGTCTGAGGGCGCGGTCCTTGGACTCATTCAGGCCGTCTTTGTAGTTGGGGGAGTTCCACTGGGCGATCCCAGCCCCTCCCCACCCACCCTCTAATGGACCTCCTCATAGAAGCCCCATTTCACTTTTGTTTTATCTACCTCTTAGCAAAACAATAGATAAATTAGGTAGTGGCAGCTCCACTTGCTTAGGTTAGGGGGGGAAAAAGATTTCTTTTTCCAAAGGAAAAAAATATTACCTTGAGAATACTTTCCAAAAAATAAAATTAAAAAAAAAAAAACCAAAAAAAAAAATTTTTTTTTAAAAGGGAGACATTTTCCAGTGACCACTGGATTGTTTTAATTTCCCAAGCTTTTTTTTCCCCCATAAATAAGTTTCACTCTTTGGCGATTTTCTTCACTTGTTTAAGATAACGTGCTAGCTATTCCAACAGGTAACAGCTTTCACAGTCTGCCCCTGGCCTGTCTCACCCCATCCCCCACCCTATTCCTGCCAGTGAGTCCTTCCTGTGCTTCTCTCCCTTCTCCCCTCCCAGCCAGCTGACTTCAGTCACCCCTGTCCCCCCTCCCCTGCCAATAAGCTCCCCCAGGAATAAAGGCTTTGTTTTGGGGATGCTTAAATCTTGACTGGCACTTCCCGGCTGTGGGGGCTGGGGAGCCACTTGTAACATTTCTGTGCAGATTTTATGTTAGCCACTGCTATGTAAAAGCACGTTCAAAATGAATTTCAGCAGATTATGTGTTACCATAATGAATAAACGTCCTCTATCACCATTTGGAGTCTCCCTTTTCTCCAGGATCTTGATCCTGGTCCCCAAAACCAGAGTGAATCAAAAGAGCTTCCTCCCCTGAGGCAAAGTGGATTTGTAAGCAGTTCTGAAACATCACTTACTCAGAAGAGGGAACGATGTATTTTGATGAGTGCAAATTGGGAAGAGCTGGAGGCCTACTGCTTGGGACAGTTTTTTTTTTTTTTTTTTTTTTAAATATGAGTGCTAGCTTATTCTGTAATTGCGGCAACTTTGAAAATTGTATTTTACTGGAAATCTGCCAGCCATCACCACCCGATTTTGATTGTATCCTTCCTCCCATCCTTTAATCTGTTCATTGCTTTGGGGGAGGTGGGGCAGCTGGCTCACACGTTGGAGTTTGTTCTTTGATGGATGAACGAACACTCCAGTTTTCTTTCCCGTGAAGGTTGTTTCAGCCACAAACCACTTCATTTTGCTGTTTCAATTTCAAAATAAAAGGAAACTTATATTGAAAGACAA)$ . 05BR005 ENSG00000236532.6 ENSG00000265148.6 -/- +/+ chr21:28163602 chr17:58337448 exon/splice-site exon/splice-site translocation 3 2 0 5 7 high . . . . . ENSG00000236532.6 ENSG00000265148.6 ENST00000453420.5 ENST00000580022.5 upstream upstream . ^(CAAGATAGGTTGAAAGGGGAGTTCGTAGTCATCTCTTCTAATCAGGAGATCCCTGAAAGCCGAACATTTAAATGTTCTCTTCTTGAAATAAAAATACCATAGTTTTAGTTAGGAATGTGCTATGTTGAAAATAACAGAAAAACTGACCTCTGTGGCTTAAACAAGTAAGGATTTATTTTCCTTCCGTAGCTGGAGGAAGGGAGGTGCAGCTTTGGCTCAGCTCTTAACAGTGCAACATCTAGTGCCTCTATAGTTCTCTTGGACACAGATGGCTGCTTTCGAAGAAGAAAGAAGTGGAAAGTGATG___GAGTTTCTATGCTCCAGCTCTCTTTGCCTGCTGCCATCCACGTAAGATGTGACTTGCTCCTCTTTGCCTTCTGCCATAATTGTGAGCCCCCCTCAGCCATGTGGAATG___GCCCACAGCCAAGCCATTGAGAGACAAGTCCATGGGAGACAAATTAGCTCATGCAGCTGAGATGTCCTGGAGATTTTCCACAGCACCACTTGGCCAGTGCCTAGACAAG___AGGCCATCTTTGAAGAAGTAAACAAGTACCATACACTAAAGGGATGACAGAACAACGAAACAAAAG___)GCTTCCGAGGCGATCCGGCAgCATCAGTCTTCAGCCGCTAAGCCAAGAAGATCTGGGAAGGAGTCAATCAGAGAGCCTTGtGCCAGAGTTCCAGGGGCTGTGGAAGTGGCTGCCAG|CCTCCTGCCCCCAACAGGATTCCTCACATCCCAGGACCAGCTGGAAAAGGTGGTGAGAGTTGGAAAGAGACTGCTCAGTGAGGACTGCCCTGCGAACCAGCTTGGATTCATCCCGTTCACCTCCACGTTCTGCACTCGGGGCCGAGGGAAGGGAGGCAGCCCAGGCAGCTAGAGAACTTGATGAAACACACTCAcTCTGAATCTCGCTTGATCGTCATGCTGACCCAGTGAG___GCCACTCCTCGACTTTTCAGCTCCC(GCACGATTCCTGAAGCAGGAAAAGAAACAGTTCTGTGAG___TCTACTCAGGGTCAGGCATCCTTTCCGACTACTCACTCAGCAGCGGATCCCCACCCGCCTCTGACTCCCAGTGTCTTTCGGCTCCAACGTAAGTTCACCGAACGTCTAAGAGCTGAGGATTCAAAGGCATGTAAGACCGCCCCTGCCCTCAGCTGCAAGACCTGTCCGCGATCCTACGAG___CCCCATTCCGCCCTCTTTCCCCGACCTTGGTCCCCCATGGGCCCTACAACCAGGTCCCCGACTGACACCTTGACCAGCGAACACAGCAAACAGGCCCGCAGATGCCGCAGGTCCTTCGGCACCGTCTCCAGGGCCATCTTCGCCGATGGGAAGAACAACAGGGAGATAGACGACCACAGCCTGTGCACCCGCAGGAAGTAAATAGCTCGTTACCCAGAATGCCCACCACTTCCGGCGCTTAGACTTCCTCTTCCGGTGTGGGCGGACGCCAGCTCCGCCCCTACCCCCGCCAGAGGAGATGGTTTCTCCCGCCAGCAGGCGGGGAGGCTGGGCGGCCGGCCGCCACCTGGGCCGGAGCGCGTCGCAGCCACCTGAGCCCGCCGAGGGCGCGGCGGAGGCTGTGTGGGGTAGTCAGCGGGCCCCCGGGGCGGGGGGGCGGCTGCGCTTGCGCGGGAGTGTGTCGGGCTGAGCCGCAGCGCCGAGACGCGGGCTGTTTGATCTGGGCTGGTGGCCCTGGGCGTCGGTCCTGTTCCCCGATGGTAACCCGAAGTTTGTTTTTTTTTGTTTTGTCTCCCCGTTTTAGAAGCATTGGGGGCAGTGAATCCACTGTCTCCCTCTGGATTGTCTCTGCAGAGACCGAGAAGAAATCCAGGGACAGCCCCACCCCTCCTTCCTAACTGCGAGAGCGCTATAGGGTTTCCACTTGCTTCCCACAGGAATGCTGGCCTGGGAGCTACGGCGGAAAAAAATGCGTATTTATCTTTTAAAACTCCGTCTGTTTGCTCGTTCCGGCTGATAATTTATACTTTGCGCAGTTCTTAGCGCTTAGACACGGTTCCTTTACTAAAGACCATTTGTAGGAGATTAGGTGTCCTTTTTTTCCCTTTCATTTCACCGTCTAGGAAGCGAAATGCCTTGTTCTATAGGCACTAAACCACCACCCCTACCAAACCTTTCTCGGGGAAGCAGAAGGGGAACTTGTGCCTTGTGAGGAAGCGACAAAGGCCCCTTCTGGCCCTGGAGACTTCACGCCAATGGAGCACCAGCTCTCTGTCCTCGCAATAGCCCGAGTGCAGGCAGAACGCAGTCATTTGTGTTTATCTGAGAGGAGCTTTGGGATATAAATAGTTTCAGGCCCCGCTGCGCTGTCATTCCAGCCCAGCCTCCTGATTGAGCTGCTTCCGGGCGGGCTTTCTTCTTGTTGGCGGTCCCATGCTGTGTTCAGATGGGCTCTGTGACAGGTTTGGATGTTTTCTATCACTGAATAAAACTTTCCACTTTGGAACATATTTTCTACACTCTATTATCTCATGTAAGTCCTGCAACAACTATTAAGTAGGCCCATTTTATGGACTGAAAAAGCGAGGCACAGAGTATTTGCCCAAGGTCTGAGTCACTGAAGTATGATAATGTGTGAAGTGAACAGTATAATAATAATGACTGAAGCACAGTAAGAATCCAGTCATGCTTTCTCCTTCCCTGATCTCACTAAGCCACACTTTTAGGGGCTTACAAACCAGTTCTTATTGCCAAGCCCTCTACTCTACCCTATCCTTTCATGAATCGGAGCCTAGCCTCTGATAACATAAATAATTTACTTCTCTTGATGTAGAAAGAGATGACGTTGTTACCCTGAGTGACAGTCACGACAGAACAAAACCACAAGACCAGACCACATTTGTGGATAAATATATTAGCAAATAAATATATTTCTTAACATA)$ . 05BR005 ENSG00000198265.12 ENSG00000154975.14 -/- -/- chr17:67086829 chr17:52072393 CDS/splice-site CDS/splice-site deletion 1 3 0 124 5 high in-frame . AAA_domain(100%),Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%)|Eukaryotic-type_carbonic_anhydrase(100%) . . ENSG00000198265.12 ENSG00000154975.14 ENST00000358691.10 ENST00000442502.6 upstream downstream . ^(GTGGGGACGTTGACAAGTGGATCCAAGATGGCGTAGAAAGTAATGACAG___GATTTGGATGAAGTAATGGATCACTAATGAACTACAGTGCTGGTGAGATGTGTAAG___AAATTATAAAGAGCTCTGATGGGCTATTTGGGTGATACCCAGTGCAGTGAACTGCAG___GATTTTTGTCCCTGAGTCATGGAAGACAGAAGAGCTGAAAAGTCATGTGAACAAGCATGTGAATCACTTAAGAGGCAGGACTATGAAATGGCCCTCAAGCACTGCACAGAGGCCCTTCTTTCTCTTGGCCAGTACTCCATGGCAGACTTCACAGGGCCTTGTCCATTGGAAATAGAACGCATCAAAATCGAGAGTCTTCTCTACAGAATTGCCTCATTTTTGCAACTG___AAAAATTATGTGCAAGCTGATGAAGATTGTAGACATG___TGCTGGGAGAAGGACTGGCCAAGGGAGAAGATGCCTTTCGGGCAGTGCTTTGCTGCATGCAGCTGAAAGGGAAGCTCCAACCTGTATCCACCATTCTTGCCAAGTCACTCACAGGAGAGTCCCTG___AATGGGATGGTAACAAAGGATTTGACAAGACTAAAAACACTTCTCTCAGAAACAGAG___ACAGCAACTAGTAACGCCCTCTCTGGATATCACGTGGAAGACTTAGATGAGG___GGTCTTGTAATGGTTGGCATTTCCGCCCACCACCTAGGGGAATCACAAGCAGCGAGGAATATACTTTGTGTAAAAG___ATTTTTAGAACAAGGAATCTGTAGGTATGGTGCCCAGTGTACTTCAGCACATTCCCAGGAAGAACTAGCAGAATGGCAGAAAAGATATGCTTCACGGCTGATAAAATTGAAACAGCAAAATGAGAATAAACAGCTCTCAGGCAGTTACATGGAAACCTTGATAGAAAAGTGGATGAATTCATTGTCTCCTGAGAAAGTG___CTTAGTGAATGTATAGAAGGAGTAAAGGTAGAGCACAATCCTGACCTGTCAGTTACTGTCAGCACCAAAAAATCCCACCAGACATGGACCTTTGCTCTCACTTGTAAG___CCTGCAAGAATGCTGTATCGTGTAGCATTGCTTTATGATGCTCATCGTCCTCATTTTAGTATCATTGCAATATCTGCCGGAGATAGTACTACCCAGGTATCACAAGAAGTCCCAGAAAACTGTCAAGAATGGATAGGAGGAAAGATGGCCCAAAATGGATTAGATCATTACGTGTATAAAGTCGGGATAGCATTTAACACAGAAATATTTGGAACTTTTCGCCAAACCATAGTTTTCGACTTTGGATTGGAACCAGTACTCATGCAAAGAGTAATGATTGATGCAGCTTCTACAGAAG___ATCTCGAATACCTGATGCATGCAAAACAGCAGCTAGTAACCACAGCTAAACGTTGGGATTCTTCCTCTAAGACTATTATAGATTTTGAACCTAATGAAACTACTGATTTGGAGAAGAGCCTTCTTATCAGATACCAAATTCCCCTCTCTGCTGACCAGCTATTTACTCAGTCCGTTTTAGACAAATCATTGACCAAGAGCAACTATCAGTCACGGTTACATGACCTTCTTTATATTGAGGAGATAGCCCAGTATAAAGAAATCAGCAA___GTTCAACCTTAAAGTGCAATTGCAGATTCTGGCAAGCTTCATGCTCACTGGTGTTTCTGGAGGTGCAAAGTATGCTCAGAATGGACAACTTTTTGGTCGCTTTAAGCTTACTGAAACACTTTCTGAAGATACTTTGGCTGGACGACTGGTGATGACCAAAGTCAATGCTGTTTATTTATTACCAGTCCCTAAACAGAAGTTAGTACAGACCCAGGGAACCAAAGAGAAGGTTTATGAAGCTACTATTGAAGAAAAAACAAAGGAATATATATTTTTAAGGCTATCTAGGGAATGCTGTGAAGAACTTAATCTTCGGCCTGACTGTGACACACAG___GTTGAACTTCAGTTTCAATTAAATCGATTACCCCTCTGTGAAATGCACTATGCACTAGACAGGATCAAGGACAATGGGGTTTTGTTTCCAGACATCAGTATGACTCCCACCATACCATGGAGTCCTAACAG___ACAATGGGATGAACAGTTGGATCCTCGACTAAATGCAAAACAGAAAGAGGCTGTTCTGGCCATTACCACTCCACTTGCAATCCAGCTGCCGCCTGTGCTTATCATCGGACCCTATGGGACAGGCAAAACGTTCACTCTAGCTCAGGCTGTCAAACATATTCTGCAGCAACAGGAGACTAG___GATTCTCATTTGCACCCATTCTAATAGTGCTGCTGATCTCTACATAAAGGATTATTTACATCCATATGTAGAAGCAGGCAATCCCCAGGCAAGACCTCTCAG___GGTATATTTCAGAAATCGCTGGGTAAAGACTGTCCACCCAGTTGTGCATCAGTACTGTTTGATCTCAAGCGCACATTCCACCTTTCAGATGCCCCAGAAAGAAGATATTCTTAAACATCGAGTGGTGGTTGTTACCTTGAATACTTCCCAGTACCTCTGTCAGTTGGACCTTGAACCTG___GGTTTTTTACACACATTCTATTAGATGAAGCTGCCCAGGCCATGGAGTGTGAAACCATTATGCCTCTAGCATTAGCAACTCAAAACACTCGGATTGTCTTGGCTGGTGATCACATGCAG___CTCAGTCCTTTTGTTTACAGCGAGTTTGCCAGGGAGAGAAACCTTCACGTTTCATTACTTGACCGACTCTATGAGCATTACCCTGCTGAGTTCCCATGTAGGATTCTCCTGTGTGAGAACTACCGCTCCCATGAAGCTATCATCAA___TTATACCTCTGAGCTTTTCTATGAGGGCAAACTGATGGCCAGTGGGAAGCAGCCAGCACACAAAGATTTCTACCCACTAACTTTCTTTACAGCACGAGGAGAAGATGTACAAGAAAAAAATAGCACAGCTTTTTATAATAATGCAGAG___GTGTTTGAAGTGGTGGAACGTGTAGAAGAGTTAAGAAGGAAGTGGCCAGTAGCGTGGGGGAAGTTAGATGATGGCAGTATTGGTGTGGTGACTCCATATGCTGATCAAGTGTTTAGAATACGTGCTGAACTTCGAAAAAAGAGATTATCTGATGTTAATGTAGAAAGGGTGCTAAATGTTCAAG___GAAAGCAATTCAGAGTTTTGTTTCTTAGCACAGTACGTACAAGACATACTTGTAAACATAAACAGACACCAATTAAAAAGAAAGAGCAACTTCTGGAAGATTCCACAGAGGACTTAGATTATGGTTTTTTATCTAACTACAAGCTTCTCAATACTGCCATCACAAGAGCACAATCCCTGGTTGCTGTGGTGGGTGATCCCATTGCTCTGTGCTCTATTGGAAGATGCAG___GAAATTTTGGGAACGGTTTATTGCCCTGTGTCATGAAAACAGTAGCCTACATGGAATCACTTTTGAACAGATCAAAGCCCAGTTAGAGGCTTTAGAACTAAAGAAGACATATGTGTTGAATCCGCTGGCACCTGAATTTATCCCCCGGGCTCTAAGACTGCAGCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAG___GGGAAAAGTCTTCATCATACCCAGAATGATCACTTCCAGAATGATGGAATTG___TTCAGCCCAATCCTTCTGTACTTATTGGCAATCCTATTAGAGCATATACTCCTCCACCCCCTCTTGGACCTCACCCAAATTTGGGAAAATCTCCAAGCCCTGTTCAAAGAATAGATCCTCACACTGGGACAAGTATTCTTTATGTACCTGCTGTCTATGGAGGGAATGTAGTTATGTCGGTGCCTTTACCT___GTACCATGGACAGGATACCAGGGTAGGTTTGCAGTTGATCCTCGAATTATTACACATCAGGCAGCAATGGCCTATAACATGAACCTATTACAGACACATGGACGAGGATCTCCTATTCCTTATGGCCTTGGACATCACCCACCTGTCACCATAGGCCAGCCACAAAATCAGCATCAGGAGAAGGATCAACATGAGCAAAATCGAAATG___GTAAAAGTGATACAAATAATTCCGGACCTGAAATTAATAAGATTCGAACACCAGAGAAAAAGCCAACAGAACCAAAACAG___GTTGATTTGGAATCAAATCCACAGAACAGAAGTCCTGAATCACGTCCTAGTGTTGTTTATCCCAGTACCAAATTTCCTCGCAAAGATAATCTCAACCCAAGACACATAAATCTTCCCCTTCCTGCTCCCCACGCACAGTATGCAATCCCTAATCGCCACTTTCATCCCCTTCCCCAGCTACCAAGACCACCCTTTCCAATTCCACAGCAGCACACCTTGTTAAATCAGCAGCAGAATAATTTGCCTGAACAACCAAATCAGATACCACCTCAGCCAAATCAGGTAGTCCAGCAGCAAAGTCAGTTGAATCAGCAGCCTCAGCAGCCACCTCCTCAGCTTTCTCCTGCATATCAGGCGGGACCCAACAATGCTTTTTTTAATAGTGCAGTTGCTCATCGGCCACAGTCTCCTCCTGCAGAAGCTGTAATTCCGGAGCAGCAGCCCCCTCCCATGCTGCAAGAAGGCCACAGTCCTCTGAGAGCCATTGCACAACCCGGCCCCATTCTTCCTTCACATCTGAATAGCTTCATTGATGAGAACCCCTCGGGATTACCTATAGGGGAGGCTTTAG___ATCGTATACATGGGAGTGTCGCTCTGGAAACATTAAGGCAGCAGCAGGCACGGTTCCAGCAGTGGAGCGAGCATCATGCCTTTCTCAGTCAGGGCAGCGCTCCATACCCACACCATCACCATCCTCACCTCCAGCATCTTCCTCAGCCGCCCCTGGGATTACATCAGCCGCCAGTGAGGGCAGACTGGAAGCTCACCAGCAGTGCCGAAGATGAAGTGGAGACCACATACTCAAG___GTTTCAAGACTTAATCAGAGAACTGTCTCATCGTGATCAAAGTGAAACACGGGAACTAGCTGAAATGCCACCACCTCAATCAAGACTTTTGCAATATAGACAAGTACAGAGTAGAAGCCCACCAGCAGTCCCATCTCCCCCATCCAGTACAGACCACAGTAGCCACTTTTCTAACTTTAATGATAACAGCAGAGACATTGAAGTAGCCAGCAACCCAGCATTTCCACAGCGCCTCCCACCCCAGATATTCAACTCACCTTTCTCGTTGCCATCTGAACACCTTGCCCCTCCTCCCTTGAAATACCTGGCACCTGATGGAGCATGGACTTTTGCTAACTTGCAACAGAATCACCTAATGGGGCCAGGTTTTCCCTATGGCCTACCTCCATTGCCTCACAGGCCACCGCAGAACCCTTTTGTACAAATACAGAATCATCAACATGCTATTGGTCAAGAGCCATTTCACCCATTGTCATCTCGAACAGTATCTTCTTCTTCGCTCCCTAGCTTAGAAGAG___TATGAGCCCAGAGGACCTGGTCGGCCCTTGTACCAAAGAAGAATCTCATCTAGCTCAGTTCAACCTTGTT)CTGAAGAAGTAAGCACTCCTCAAGACAGTCTGGCTCAGTGTAAAGAGCTTCAGGACCACAGTAACCAATCTTCTTTCAACTTTTCATCCCCGGAGTCCTGGGTAAACACCACCTCATCTACTCCTTATCAGAACATTCCGTGCAATGGATCCAGCAGGACAGCTCAGCCCAGAGAGTTGATAG|CTCAACAGAATTCACCAAAAATCCATGAAGGCTGGTGGGCATACAAGGAGGTGGTCCAGGGAAGCTTTGTTCCAG___TTCCTTCTTTCTGGGGATTGGTGAACTCAGCTTGGAATCTTTGCTCTGTGGGGAAACGGCAGTCGCCAGTCAACATAGAGACCAG(TCACATGATCTTCGACCCCTTTCTGACACCTCTTCGCATCAACACGGGGGGCAGGAAG___GTCAGTGGGACCATGTACAACACTGGAAGACACGTATCCCTTCGCCTGGACAAGGAGCACTTGGTCAACATATCTGGAGGGCCCATGACATACAGCCACCGGCTGGAGGAGATCCGACTACACTTTGGGAGTGAGGACAGCCAAGGGTCGGAGCACCTCCTCAATGGACAGGCCTTCTCTGGGGAG___GTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGCAAAGAGTCCAAATGGATTGGTGGTAGTTTCTATATTTATAAAA___GTTTCTGATTCATCAAACCCATTTCTTAATCGAATGCTCAACAGAGATACTATCACAAGAATAACATATAAAA___ATGATGCATATTTACTACAGGGGCTTAATATAGAGGAACTATATCCAGAGACCTCTAGTTTCATCACTTACGATGGGTCGATGACTATCCCACCCTGCTATGAGACAGCAAGTTGGATCATAATGAACAAACCTGTCTATATAACCAGGATGCAG___ATGCATTCCTTGCGCCTGCTCAGCCAGAACCAGCCATCTCAGATCTTTCTGAGCATGAGTGACAACTTCAGGCCTGTCCAGCCACTCAACAACCGCTGCATCCGCACCAATATCAACTTCAGTTTACAGGGGAAGGACTGTCCAAACAACCGAGCCCAGAAGCTTCAGTATAGAG___TAAATGAATGGCTCCTCAAGTAGGGAACAAAGCCAAGAAGAATCCCACCTCAGTGAAATGCTACAACTGTGAATTGACGTAACCTAGAATGTCCCCCTTCTTGCTTCTCTCTCCTTCTTTCCCCCAAGCCTCATTCATTCTTGGGATTGGCCCTTTCTTCATGAAAAGTGTCTGCAAAACCATGGCAGAGGAATACATCTCTCACACATACTCACAAACACACACACAAGCACTTGCACATACATACAAACACATGCAAACATACCTACACACACACACACTCTTACAACCTCCATCATGGGAAGTCAAGTTTCAGAAACAAAAGTCTCATTCATAAGAGGTCTTAGAAGAAAATAACCAGTTAACCTGATTTCAATTTTGATACCGTTTTCCTGAACTAATAAATCTACCCAATGAGACTTTTCAGCCTTTGTACATACAAAATTCTTCCAAAAGAGAGAGGAGAAAATACAGCTCTGATGGCATCAAACGGACTTTGCATCAAGTAATTTCAGATAGTGTCCTAGGATCCTTTGAGGGTGCTGGTAGCAGGTGAGCAGGACAAAGTTGACCAAGGACACTTATTTCTAGATTATGATTCTTCTGTTTACTCAACAATTTACAAAGAAAAAAAGGACAGACATTGAAGAGCTACACATTGTATATATATCACCACAGACTATAAGGAAATGGAATTATTTCCCTCTTTGTCACATATCTGTAGTAGGATTTGCCAAGATCAGAAATGATCCATTTGCTGTTTCTTGTTTTCCAAAGGTCATACATTGTGTTTGGTTATTGTTACCAGCTCAATAAATGTGTTTAACGAGTTAATTTCATTTTTCTGGCTTTGGTCTGTTCTCCTTCCTTACAGGCTAAGCCCTGGCTCCATGCAACTGCATTCTTTGATTTCACTTGTTCCTTCATCTACATGTTTTGTTCATTTGCAGCCAGTTTTTACTGAGTTTGTGGCAATCAGGAATGCATTTGCTAAGCAAGTATGACTTTAATTCCACTCCATGGCTCAATCATTCACATGAGGTGAGCTTCAGCCTGAGATAGCAGGCGACAGACTTCTTGCGTTTCAAAACTGCCATGCCCCCCTGTGATGCTCCCGTGAAGGAATGCACTTTGCCTTGTAAGTTCCTGGGAAAGGGGTATGTTTTCTCTCCAGGTGCAGCCAGATCTCACAAAGTACAAAACGAATGCCTTTCTTTTCTTGTTTATAATGGTCACTCACTGTGTTTGGTTACTGTCAAGAAATCAATAAATGTGTTTAACAAGTTACCCAGTA)$ MEDRRAEKSCEQACESLKRQDYEMALKHCTEALLSLGQYSMADFTGPCPLEIERIKIESLLYRIASFLQLKNYVQADEDCRHVLGEGLAKGEDAFRAVLCCMQLKGKLQPVSTILAKSLTGESLNGMVTKDLTRLKTLLSETETATSNALSGYHVEDLDEGSCNGWHFRPPPRGITSSEEYTLCKRFLEQGICRYGAQCTSAHSQEELAEWQKRYASRLIKLKQQNENKQLSGSYMETLIEKWMNSLSPEKVLSECIEGVKVEHNPDLSVTVSTKKSHQTWTFALTCKPARMLYRVALLYDAHRPHFSIIAISAGDSTTQVSQEVPENCQEWIGGKMAQNGLDHYVYKVGIAFNTEIFGTFRQTIVFDFGLEPVLMQRVMIDAASTEDLEYLMHAKQQLVTTAKRWDSSSKTIIDFEPNETTDLEKSLLIRYQIPLSADQLFTQSVLDKSLTKSNYQSRLHDLLYIEEIAQYKEISKFNLKVQLQILASFMLTGVSGGAKYAQNGQLFGRFKLTETLSEDTLAGRLVMTKVNAVYLLPVPKQKLVQTQGTKEKVYEATIEEKTKEYIFLRLSRECCEELNLRPDCDTQVELQFQLNRLPLCEMHYALDRIKDNGVLFPDISMTPTIPWSPNRQWDEQLDPRLNAKQKEAVLAITTPLAIQLPPVLIIGPYGTGKTFTLAQAVKHILQQQETRILICTHSNSAADLYIKDYLHPYVEAGNPQARPLRVYFRNRWVKTVHPVVHQYCLISSAHSTFQMPQKEDILKHRVVVVTLNTSQYLCQLDLEPGFFTHILLDEAAQAMECETIMPLALATQNTRIVLAGDHMQLSPFVYSEFARERNLHVSLLDRLYEHYPAEFPCRILLCENYRSHEAIINYTSELFYEGKLMASGKQPAHKDFYPLTFFTARGEDVQEKNSTAFYNNAEVFEVVERVEELRRKWPVAWGKLDDGSIGVVTPYADQVFRIRAELRKKRLSDVNVERVLNVQGKQFRVLFLSTVRTRHTCKHKQTPIKKKEQLLEDSTEDLDYGFLSNYKLLNTAITRAQSLVAVVGDPIALCSIGRCRKFWERFIALCHENSSLHGITFEQIKAQLEALELKKTYVLNPLAPEFIPRALRLQHSGSTNKQQQSPPKGKSLHHTQNDHFQNDGIVQPNPSVLIGNPIRAYTPPPPLGPHPNLGKSPSPVQRIDPHTGTSILYVPAVYGGNVVMSVPLPVPWTGYQGRFAVDPRIITHQAAMAYNMNLLQTHGRGSPIPYGLGHHPPVTIGQPQNQHQEKDQHEQNRNGKSDTNNSGPEINKIRTPEKKPTEPKQVDLESNPQNRSPESRPSVVYPSTKFPRKDNLNPRHINLPLPAPHAQYAIPNRHFHPLPQLPRPPFPIPQQHTLLNQQQNNLPEQPNQIPPQPNQVVQQQSQLNQQPQQPPPQLSPAYQAGPNNAFFNSAVAHRPQSPPAEAVIPEQQPPPMLQEGHSPLRAIAQPGPILPSHLNSFIDENPSGLPIGEALDRIHGSVALETLRQQQARFQQWSEHHAFLSQGSAPYPHHHHPHLQHLPQPPLGLHQPPVRADWKLTSSAEDEVETTYSRFQDLIRELSHRDQSETRELAEMPPPQSRLLQYRQVQSRSPPAVPSPPSSTDHSSHFSNFNDNSRDIEVASNPAFPQRLPPQIFNSPFSLPSEHLAPPPLKYLAPDGAWTFANLQQNHLMGPGFPYGLPPLPHRPPQNPFVQIQNHQHAIGQEPFHPLSSRTVSSSSLPSLEEYEPRGPGRPLYQRRISSSSVQPCSEEVSTPQDSLAQCKELQDHSNQSSFNFSSPESWVNTTSSTPYQNIPCNGSSRTAQPRELI|aQQNSPKIHEGWWAYKEVVQGSFVPVPSFWGLVNSAWNLCSVGKRQSPVNIETSHMIFDPFLTPLRINTGGRKVSGTMYNTGRHVSLRLDKEHLVNISGGPMTYSHRLEEIRLHFGSEDSQGSEHLLNGQAFSGEVQLIHYNHELYTNVTEAAKSPNGLVVVSIFIKVSDSSNPFLNRMLNRDTITRITYKNDAYLLQGLNIEELYPETSSFITYDGSMTIPPCYETASWIIMNKPVYITRMQMHSLRLLSQNQPSQIFLSMSDNFRPVQPLNNRCIRTNINFSLQGKDCPNNRAQKLQYRVNEWLLK* 05BR005 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 2 2 0 358 14 high . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000560197.5 upstream downstream . CCTAGAACCCGTGTTCTTAATATACATGCTGTGGAGCTGCCCTTGGTGACGACAACAAGGACAGGTCAGTTCTCCACGTCCCTGAGAGGCTAAGATGCTTACATCTCTTGTCACACTCCTGAATGTGGCAGGTCCGTGTCTGGACCGAGG...CTCACATCGGTTGTTGAGGCTATCGCAGGAGCGGCCGCGCTGCTGAATTCCATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG(___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 05BR005 ENSG00000111877.17 ENSG00000136450.13 -/- -/- chr6:118911650 chr17:58005041 CDS/splice-site CDS/splice-site translocation 3 6 0 23 4935 medium in-frame . MCM2/3/5_family(95%)| . . ENSG00000111877.17 ENSG00000136450.13 ENST00000316316.10 ENST00000584773.5 upstream downstream duplicates(2) ^(TCCATCCGGAAGAGCCGCCGGGGCAGGGAAGTTGAGGCGGTGCGCGGCCCGGCGTCGGTCGAGAGCGCAGGCCCGGCAGAGCCGCAGGCGCTAGGCCGCCCGACACAGCCCGCGCGTCCCCGCGGCCGGTGGCGCCTCGAGCGGCCACGTGCACGCGCGCACTCCGCCTCACCAGCCTTCTTGCGCCGGAGACGAACCCGCTGCCTGGCTGGAGCTCTCTGGGCCCTTCGGCCTCGGGAGCAACGCGTTCCCGGCGACTTCTGACACAGCCA___TTACCTAGATTCAAGATGAATAGCGATCAAGTTACACTGGTTGGTCAAGTGTTTGAGTCATATGTTTCGGAATACCATAAGAATGATATTCTTCTAATCTTGAAGGAAAGGGATGAAGATGCTCATTACCCAGTTGTGGTTAATGCCATGACTCTGTTTGAGACCAACATGGAAATCGGGGAATATTTCAACATGTTCCCCAGTGAAGTGCTTACAATTTTTGATAGTGCACTGCGAAGGTCAGCCTTGACAATTCTCCAGTCCCTTTCTCAGCCTGAGGCTGTTTCCATGAAACAGAATCTTCATGCCAGGATATCAG___GTTTGCCTGTCTGTCCTGAGCTGGTGAGGGAACACATACCTAAAACCAAGGATGTGGGACACTTTTTATCTGTCACTGGGACAGTGATTCGAACAAGTCTGGTGAAGGTTCTGGAGTTTGAGCGGGATTACATGTGTAACAAATGCAAGCATGTGTTTGTGATCAAGGCTGACTTTGAGCAGTATTACACCTTTTGCCGGCCATCCTCGTGTCCCAGCTTGGAGAGCTGTGATTCCTCTAAATTCACTTGCCTCTCAGGCTTGTCTTCGTCTCCAACCAGGTGTAGAGATTACCAGGAAATCAAAATTCAGGAACAG___GTTCAAAGGCTATCTGTTGGAAGTATTCCACGATCTATGAAGGTTATTCTGGAAGATGACTTAGTGGATAGTTGCAAATCTG___GTGATGACCTCACTATTTACGGGATTGTAATGCAACGGTGGAAGCCCTTTCAGCAAGATGTGCGCTGTGAAGTGGAGATAGTCCTGAAAGCAAATTACATCCAAGTAAATAATGAGCAGTCCTCAGGGATCATCATGGATGAGGAGGTCCAAAAGGAATTCGAAGATTTTTGGGAATACTATAAGAGCGATCCCTTTGCAG___GAAGGAATGTAATATTGGCTAGCTTGTGCCCTCAAGT)GTTTGGAATGTATCTAGTAAAGCTTGCTGTGGCCATGGTGCTGGCTGGTGGGATTCAAAGGACTGATGCTACAGGAACACGGGTCAGAG___GAGAATCTCATCTTTTATTGGTTGGGGATCCTGGCACAGGGAAATCTCAGTTCCTCAAATATGCAGCAAAGATTACACCAAGATCTGTGCTGACCACAGGAATTGGATCTACTAGTGCAG|ACATATCTGAAGAGATGGATTAAGAATGCTTTGGATTAAGGATTGTGGAGCACATTTCAATCATTTTAGGATTGTCAAAAGGAGGATTGAGGAGGATCAGATCAATAATGGAGGCAATG MNSDQVTLVGQVFESYVSEYHKNDILLILKERDEDAHYPVVVNAMTLFETNMEIGEYFNMFPSEVLTIFDSALRRSALTILQSLSQPEAVSMKQNLHARISGLPVCPELVREHIPKTKDVGHFLSVTGTVIRTSLVKVLEFERDYMCNKCKHVFVIKADFEQYYTFCRPSSCPSLESCDSSKFTCLSGLSSSPTRCRDYQEIKIQEQVQRLSVGSIPRSMKVILEDDLVDSCKSGDDLTIYGIVMQRWKPFQQDVRCEVEIVLKANYIQVNNEQSSGIIMDEEVQKEFEDFWEYYKSDPFAGRNVILASLCPQVFGMYLVKLAVAMVLAGGIQRTDATGTRVRGESHLLLVGDPGTGKSQFLKYAAKITPRSVLTTGIGSTSA|dISEEMD* 05BR005 ENSG00000148513.18 ENSG00000136450.13 +/+ -/- chr10:37169724 chr17:58005041 CDS/splice-site CDS/splice-site translocation 2 7 0 877 4935 medium in-frame . Ankyrin_repeat(100%),Ankyrin_repeats_(3_copies)(100%)| . . ENSG00000148513.18 ENSG00000136450.13 ENST00000374660.6 ENST00000584773.5 downstream downstream duplicates(1) ^(GGGGGTGGTGGCTGGGAAGGGCGATCGGGAGGCGCGGGCACTCTCTAGCAGGTGGCCGCAGCCATGGAGGAGATCTCTGCCGCCGCTGTCAAGGTCGTGCCGGGCCCGGAGCGCCCGAGCCCTTTCAGCCAGCTAGTCTATACCAGCAACGACTCCTACATCGTCCACTCTGGGGATCTTAGAAAGATCCATAAAGCTGCCTCCCGGGGACAAGTCCGGAAGCTGGAGAAGATGACAAAGAGGAAGAAGACCATCAACCTTAATATACAAGACGCCCAGAAGAG___GACTGCTCTACACTGGGCCTGTGTCAATGGCCATGAGGAAGTAGTAACATTTCTGGTAGACAGAAAGTGCCAGCTTGACGTCCTTGATGGCGAACACAGGACACCTCTGATGAAG___GCTCTACAATGCCATCAGGAGGCTTGTGCAAATATTCTGATAGATTCTGGTGCCGATATAAATCTCGTAGATGTGTATGGCAACACGGCTCTCCATTATGCTGTTTATAGTGAGATTTTGTCAGTGGTGGCAAAACTGCTGTCCCATGGTGCAGTCATCGAAGTGCACAACAAG___GCTAGCCTCACACCACTTTTACTATCCATAACGAAAAGAAGTGAGCAAATTGTGGAATTTTTGCTGATAAAAAATGCAAATGCGAATGCAGTTAATAAGTATAAATG___CACAGCCCTCATGCTTGCTGTATGTCATGGATCATCAGAGATAGTTGGCATGCTTCTTCAGCAAAATGTTGACGTCTTTGCTGCAGATATATGTGGAGTAACTGCAGAACATTATGCTGTTACTTGTGGATTTCATCA___CATTCATGAACAAATTATGGAATATATACGAAAATTATCTAAAAATCATCAAAATACCAATCCAG___AAGGAACATCTGCAGGAACACCTGATGAGGCTGCACCCTTGGCGGAAAGAACACCTGACACAGCTGAAAGCTTGGTGGAAAAAACACCTGATGAGGCTGCACCCTTGGTGGAAAGAACACCTGACACGGCTGAAAGCTTGGTGGAAAAAACACCTGATGAGGCTGCATCCTTGGTGGAGGGAACATCTGACAAAATTCAATGTTTGGAGAAAGCGACATCTGGAAAGTTCGAACAGTCAGCAGAAGAAACACCTAGGGAAATTACGAGTCCTGCAAAAGAAACATCTGAGAAATTTACGTGGCCAGCAAAAGGAAGACCTAGGAAGATCGCATGGGAGAAAAAAGAAGACACACCTAGGGAAATTATGAGTCCCGCAAAAGAAACATCTGAGAAATTTACGTGGGCAGCAAAAGGAAGACCTAGGAAGATCGCATGGGAGAAAAAAGAAACACCTGTAAAGACTGGATGCGTGGCAAGAGTAACATCTAATAAAACTAAAGTTTTGGAAAAAGGAAGATCTAAGATGATTGCATGTCCTACAAAAGAATCATCTACAAAAGCAAGTGCCAATG___ATCAGAGGTTCCCATCAGAATCCAAACAAGAGGAAGATGAAGAATATTCTTGTGATTCTCGG___AGTCTCTTTGAGAGTTCTGCAAAGATTCAAGTGTGTATACCTGAGTCTATATATCAAAAAGTAATGGAGATAAATAGAGAAGTAGAAG___AGCCTCCTAAGAAGCCATCTGCCTTCAAG___CCTGCCATTGAAATGCAAAACTCTGTTCCAAATAAAGCCTTTGAATTGAAGAATGAACAAACATTGAGAGCAG___ATCCGATGTTCCCACCAGAATCCAAACAAAAGGACTATGAAGAAAATTCTTGGGATTCTGAG___AGTCTCTGTGAGACTGTTTCACAGAAGGATGTGTGTTTACCCAAGGCTACACATCAAAAAGAAATAGATAAAATAAATGGAAAATTAGAAG___AGTCTCCTAATAAAGATGGTCTTCTGAAG___GCTACCTGCGGAATGAAAGTTTCTATTCCAACTAAAGCCTTAGAATTGAAGGACATGCAAACTTTCAAAGCAG___AGCCTCCGGGGAAGCCATCTGCCTTCGAG___CCTGCCACTGAAATGCAAAAGTCTGTCCCAAATAAAGCCTTGGAATTGAAAAATGAACAAACATTGAGAGCAG___ATGAGATACTCCCATCAGAATCCAAACAAAAGGACTATGAAGAAAATTCTTGGGATACTGAG___AGTCTCTGTGAGACTGTTTCACAGAAGGATGTGTGTTTA)CCCAAGGCTGCGCATCAAAAAGAAATAGATAAAATAAATGGAAAATTAGAAG___GGTCTCCTGTTAAAGATGGTCTTCTGAAG___GCTAACTGCGGAATGAAAGTTTCTATTCCAACTAAAGCCTTAGAATTGATGGACATGCAAACTTTCAAAGCAG|ACATATCTGAAGAGATGGATTAAGAATGCTTTGGATTAAGGATTGTGGAGCACATTTCAATCATTTTAGGATTGTCAAAAGGAGGATTGAGGAGGATCAGATCAATAATGGAGGCAATG MEEISAAAVKVVPGPERPSPFSQLVYTSNDSYIVHSGDLRKIHKAASRGQVRKLEKMTKRKKTINLNIQDAQKRTALHWACVNGHEEVVTFLVDRKCQLDVLDGEHRTPLMKALQCHQEACANILIDSGADINLVDVYGNTALHYAVYSEILSVVAKLLSHGAVIEVHNKASLTPLLLSITKRSEQIVEFLLIKNANANAVNKYKCTALMLAVCHGSSEIVGMLLQQNVDVFAADICGVTAEHYAVTCGFHHIHEQIMEYIRKLSKNHQNTNPEGTSAGTPDEAAPLAERTPDTAESLVEKTPDEAAPLVERTPDTAESLVEKTPDEAASLVEGTSDKIQCLEKATSGKFEQSAEETPREITSPAKETSEKFTWPAKGRPRKIAWEKKEDTPREIMSPAKETSEKFTWAAKGRPRKIAWEKKETPVKTGCVARVTSNKTKVLEKGRSKMIACPTKESSTKASANDQRFPSESKQEEDEEYSCDSRSLFESSAKIQVCIPESIYQKVMEINREVEEPPKKPSAFKPAIEMQNSVPNKAFELKNEQTLRADPMFPPESKQKDYEENSWDSESLCETVSQKDVCLPKATHQKEIDKINGKLEESPNKDGLLKATCGMKVSIPTKALELKDMQTFKAEPPGKPSAFEPATEMQKSVPNKALELKNEQTLRADEILPSESKQKDYEENSWDTESLCETVSQKDVCLPKAAHQKEIDKINGKLEGSPVKDGLLKANCGMKVSIPTKALELMDMQTFKA|dISEEMD* 05BR005 ENSG00000113732.9 ENSG00000108469.15 +/+ -/- chr5:172983964 chr17:75631668 CDS/splice-site CDS/splice-site translocation 7 0 0 393 21 medium in-frame . |RecQ_helicase_protein-like_5_(RecQ5)(100%),RecQ_zinc-binding(100%) . . ENSG00000113732.9 ENSG00000108469.15 ENST00000519374.6 ENST00000317905.10 downstream downstream . ^(GCACACGCTGGTCACGCGGTCAGCTATTGACACTTCCTGGTGGGATCCGAGTGAGG)CGACGGGGTAGGGGTTGGCGCTCAGGCGGCGACCATGGCGTATCACGGCCTCACTGTGCCTCTCATTGTGATGAGCGTGTTCTGGGGCTTCGTCGGCTTCTTGGTGCCTTGGTTCATCCCTAAGGGTCCTAACCGGGG|GTGCCGCCATGCCGCCATTGCCAAGTACTTCGGGGATGCGCTGCCTGCCTGCGCCAAAGGCTGCGAC(CACTGCCAGAACCCCACGGCCGTGCGGAGGCGGCTGGAGGCCTTGGAGCGCAGCAGCAGCTGGAGCAAGACCTGCATCGGGCCCTCCCAGGGGAACGGCTTTGACCCCGAGCTGTATGAGGGAGGCCGCAAGGGCTACGGGGACTTCAGCAG___GTATGACGAAGGTTCTGGAGGCAGCGGGGATGAAGGCAGAGATGAGGCCCACAAGCGGGAGTGGAACCTCTTCTATCAGAAGCAGATGCAGCTGCGCAAG___GGCAAAGACCCCAAGATAGAAGAATTTGTACCCCCAG___ATGAGAACTGTCCCCTGAAAGAGGCTTCTAGCAGGAGGATCCCCAGGCTGACTGTGAAG___GCACGGGAGCACTGCCTGCGGCTTCTGGAGGAGGCGCTGAGCAGCAACCGCCAGTCAACACGTACCGCTGATGA___AGCTGACCTCCGGGCCAAGGCCGTGGAGCTGGAACATGAGACATTCCGGAACGCCAAGGTGGCCAACCTCTACAAGGCCAGCGTGCTGAAGAAG___GTGGCCGATATCCACAGAGCCTCCAAGGATGGGCAGCCCTATGACATGGGAGGCAGTGCCAAGAGCTGCAGTGCCCAAGCTGAGCCCCCGGAGCCCAATGAGTATGACATTCCACCAGCCTCCCATGTGTACTCG___CTCAAACCCAAGCGGGTGGGAGCTGGTTTCCCCAAAGGCTCCTGCCCGTTCCAGACGGCCACGGAACTGATGGAGACAACTCGGATCAGGGAGCAAGCCCCCCAGCCCGAGCGGGGAGGCGAGCACGAGCCCCCGAGCCGGCCCTGTGGCCTCCTGGATGAGGATGGGAGTGAGCCCCTCCCTGGGCCCAGAGGGGAGGTCCCTGGAGGCAGCGCTCACTATGGGGGGCCCTCCCCTGAGAAGAAGGCAAAAAGTTCCTCTGGGGGCAGCTCCCTTGCCAAGGGCCGGGCTAGCAAGAAACAGCAGCTCCTAGCCACAGCGGCCCACAAGGATTCTCAGAGCATCGCCCGCTTCTTCTGCCGAAGGGTGGAAAGCCCAGCTCTGCTGGCATCAGCCCCAGAGGCAGAAGGTGCCTGCCCCTCCTGTGAGGGGGTTCAGGGACCCCCGATGGCCCCAGAGAAGTACACAGGGGAGGAAGATGGAGCCGGGGGACATTCGCCTGCCCCTCCCCAGACTGAGGAGTGCCTCAGGGAGAGGCCAAG___CACCTGCCCGCCCAGAGACCAGGGCACCCCTGAAGTCCAGCCCACCCCTGCAAAGGACACATGGAAGGGCAAGCGGCCTCGATCCCAGCAG___GAGAACCCAGAGAGCCAGCCTCAGAAGAGGCCACGCCCCTCAGCCAAGCCCTCCGTCGTAGCTGAGGTCAAGGGCAGCGTCTCGGCCAGCGAACAGGGCACCTTGAATCCCACGGCTCAAGACCCCTTCCAGCTCTCCGCTCCTGGCGTCTCCTTGAAGGAGGCTGCAAATGTTGTGGTCAAGTGCCTCACCCCTTTCTACAAGGAGGGCAAGTTTGCTTCCAAG___GAGTTGTTTAAAGGCTTTGCCCGCCACCTCTCACACTTGCTGACTCAGAAGACCTCTCCTGGAAGGAGCG___TGAAAGAAGAGGCCCAGAACCTCATCAGGCACTTCTTCCATGGCCGGGCCCGGTGCGAGAGCGAAGCTGACTGGCATGGCCTGTGTGGCCCCCAGAGATGACCAACTGCTGGCTGGGCAGGGCCCGCGTCCTCCCCCAGATTCTAGCATGGGTCATCCTGGGCCTCACCTGCTGATGCCAGGGCCATCGTCTTTTCTCAGTCCTTCTCCTTTCCAACCATACTTGGCTTTGGGGATGACCCCAGACACCCCCTGAATCCAGGTCAGAGGTCAGCCCACCTTTCTTTCTGCTTGCAAAGCCTATAGACCCTTCTCAGAGCGGTCCTCATGGCTGGGTTTTCTGGGACACATGTCGAGGACAGAAGGTGGAGGGTGGTGGAGCTGCTGCTGGAAGAAGGGGAAGGAAGAGTGGCCCCTCCCCGAGTTCTAAGTCAGGATGAGGCCCACCTGTCCAAGGTATCGGAACCTACCCAGGGGACCCTCAGATCCTCCACCCACTCCCCCATCCATTACGATGCCAGCTTCCAGCCTTGCCCAGGTCAGAGCTGTGGCAGAGGAGAGGCAGCCAGGCCCTGTTCCTGCTCAGCTCCTGCTCAGGAAGGCCAGGCCTGACAGATGTTTGGGAGAGGAATAAAGTTGTGTTGTTGTGGGGCATGCAGGCGTGCACACA)$ MAYHGLTVPLIVMSVFWGFVGFLVPWFIPKGPNRg|CRHAAIAKYFGDALPACAKGCDHCQNPTAVRRRLEALERSSSWSKTCIGPSQGNGFDPELYEGGRKGYGDFSRYDEGSGGSGDEGRDEAHKREWNLFYQKQMQLRKGKDPKIEEFVPPDENCPLKEASSRRIPRLTVKAREHCLRLLEEALSSNRQSTRTADEADLRAKAVELEHETFRNAKVANLYKASVLKKVADIHRASKDGQPYDMGGSAKSCSAQAEPPEPNEYDIPPASHVYSLKPKRVGAGFPKGSCPFQTATELMETTRIREQAPQPERGGEHEPPSRPCGLLDEDGSEPLPGPRGEVPGGSAHYGGPSPEKKAKSSSGGSSLAKGRASKKQQLLATAAHKDSQSIARFFCRRVESPALLASAPEAEGACPSCEGVQGPPMAPEKYTGEEDGAGGHSPAPPQTEECLRERPSTCPPRDQGTPEVQPTPAKDTWKGKRPRSQQENPESQPQKRPRPSAKPSVVAEVKGSVSASEQGTLNPTAQDPFQLSAPGVSLKEAANVVVKCLTPFYKEGKFASKELFKGFARHLSHLLTQKTSPGRSVKEEAQNLIRHFFHGRARCESEADWHGLCGPQR* 05BR005 ENSG00000189067.12 ENSG00000262117.5 -/- -/- chr16:11586886 chr16:11820297 5'UTR/splice-site exon/splice-site duplication 0 5 0 29 61 medium . . . . . ENSG00000189067.12 ENSG00000262117.5 ENST00000622633.4 ENST00000573319.1 upstream downstream duplicates(1),mismatches(1) ^(CCTTTTCTCGGGGCGCC)CGAGAGGCCAGCTCAGACCTCCCGGCTCGACAGGCGGCGCGGGCGGCG|CAAAAAATCACCATGTACCAACCTATCCAAACTTATCCATGGATGAATCTATCCAGAAGACGGGAGTTCCGATGCTTGTCTTGCTCTGAATGTCTGCTTGTCACCTGCTTAGGGTTATCGACTGTGATTCTGGGACTCATTGTTGTTCTACAGGACCCCTCTGACTCTGTGGTTTTCTCTACTGGATTAACAATGATAGCCATAGGTGCcTTTTTTGTTGTCCTCACTGGAGTGACAGCCCTGTGTACGGTTACAGTCGACGAGAACTTGCAGAAAACCACGAGGCTAAGACTAGGAGTGAgACGAAAAAGCGGAAGTCTCCAAGGAACTACAGAGCCTTCCATGACTCACTCAATAATCGCTAGCACCTCGCTGTAGTTGTACATTGAACCCTGGC(ATCTTCGTCTTTGGAACTAAGTCTCCTGAGCATTGTTTTTAAATAGAAATA)$ . 05BR005 ENSG00000189067.12 ENSG00000262117.5 -/- -/- chr16:11586886 chr16:11821755 5'UTR/splice-site exon/splice-site duplication 0 3 0 29 13 medium . . . . . ENSG00000189067.12 ENSG00000262117.5 ENST00000622633.4 ENST00000573319.1 upstream downstream . ^(CCTTTTCTCGGGGCG)CCCGAGAGGCCAGCTCAGACCTCCCGGCTCGACAGGCGGCGCGGGCGGCG|GGTCTTGTCCTGTCACTCTGGCTGGAATACAATGGCGTAATCATgGCTCACTGCGGCCTCCATCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCAAGTATCTGGGACTACAGGCAT(___CAAAAAATCACCATGTACCAACCTATCCAAACTTATCCATGGATGAATCTATCCAGAAGACGGGAGTTCCGATGCTTGTCTTGCTCTGAATGTCTGCTTGTCACCTGCTTAGGGTTATCGACTGTGATTCTGGGACTCATTGTTGTTCTACAGGACCCCTCTGACTCTGTGGTTTTCTCTACTGGATTAACAATGATAGCCATAGGTGCTTTTTTTGTTGTCCTCACTGGAGTGACAGCCCTGTGTACGGTTACAGTCGACGAGAACTTGCAGAAAACCACGAGGCTAAGACTAGGAGTGATACGAAAAAGCGGAAGTCTCCAAGGAACTACAGAGCCTTCCATGACTCACTCAATAATCGCTAGCACCTCGCTGTAGTTGTACATTGAACCCTGGCATCTTCGTCTTTGGAACTAAGTCTCCTGAGCATTGTTTTTAAATAGAAATA)$ . 05BR005 ENSG00000108443.14 ENSG00000154217.15 +/+ +/+ chr17:59893325 chr17:67532802 CDS/splice-site CDS/splice-site deletion 5 0 0 32 209 medium in-frame . |Phosphatidylinositol_transfer_protein(100%) . . ENSG00000108443.14 ENSG00000154217.15 ENST00000225577.9 ENST00000299954.13 downstream upstream . ^(GCACTGAGCCTAAGCAGCCGGTGATGGCG)GCAGCGGCTGTGGTGGCTGCGGCGGGTCCGGGCCCATGAGGCGACGAAGGAGGCGGGACGGCTTTTACCCAGCCCCGGACTTCCGAGACAGGGAAGCTGAGGACATGGCAGGAGTGTTTGACATAGACCTGGACCAGCCAGAGGACGCGGGCTCTGAGGATGAGCTGGAGGAGGGG|TACAAAATTGGACAGCTGTACATGATCAGCAAACACAGCCATGAACAGAGTGACCGGGGAGAAGGGGTGGAGGTCGTCCAGAATGAG(CCCTTTGAGGACCCTCACCATGGCAATGGGCAGTTCACCGAGAAGCGGGTGTATCTCAACAG___CAAACTGCCTAGTTGGGCTAGAGCTGTTGTCCCCAAAATATTTTATGTGACAGAGAAGGCTTGGAACTATTATCCCTACACAATTACAG___AGTGTTCCTTTCTGCCGAAATTCTCCATTCATATAGAAACCAAGTATGAGGACAACAAAGGAAGCAATGACACC___ATTTTCGACAATGAAGCCAAAGACGTGGAGAGAGAAGTTTGCTTTATTGATATTGCCTGCGATGAAATTCCAGAGCGCTACTACAAAGAATCTGAG___GATCCTAAGCACTTCAAGTCAGAGAAGACAGGACGGGGACAGTTGAGGGAAGGCTGGAGAGATAGTCATCAGCCTATCATGTGCTCCTACAAGCTGGTGACTGTGAAGTTTGAGGTCTGGGGGCTTCAGACCAGAGTGGAACAATTTGTACACAAG___GTGGTCCGAGACATTCTGCTGATTGGACATAGACAGGCTTTTGCATGGGTTGATGAGTGGTATG___ATATGACAATGGATGATGTTCGGGAATACGAGAAAAACATGCATGAACAAACCAACATAAAAGTTTGCAATCAGCATTCCTCCCCTGTGGATGACATAGAGAGTCATGCCCAAACAAGT___ACATGACAATGGATGAAGTCCGAGAATTTGAACGAGCCACTCAGGAAGCCACCAACAAGAAAATCGGCATTTTCCCACCTGCAATTTCTATCTCCAGCATCCCCCTGCTGCCTTCTTCCGTCCGCAGTGCGCCTTCTAGTGCTCCATCCACCCCTCTCTCCACAGACGCACCCGAATTTCTGTCCGTTCCCAAAGATCGGCCCCGGAAAAAGTCTGCCCCAGAAACTCTCACACTTCCAGACCCTGAGAAAAAAGCCACCCTGAATTTACCCGGCATGCACTCTTCAGATAAGCCATGTCGGCCCAAATCTGAGTAACTTTATATAAATATCTCATGGGGTTTTATATTTTCATTTGTTGTTGTTGTTTTTTTTTAAGAATCTTCTGATAGAGAAAAAGACTGCTTTGTCACTCAAACATGTTCCTTCGACCTTTCAGTGTGCATGTGACTCAGTAACTTCACATAGAATATGATTCCCTAAGTATGCTACACAGCATCATATTAGATGTAAGATGTAAGACTTGCAAAGGACAGAAGGAATCTTCTGTAACCACATAGCTGTATGCCAGAGAGGAAGCCTTGTTATTGGGCATTTGATGAGGTTTGGCATGGACTTCAAGGATAAATGAATGAAAACTTTGCACCACTTTTGTTACAAGGTACGGTAGAAAATAGTGAAGTCAGTTTCCTCTCATCAAATCTAAAATTCTCCAAAATACTCTCAGGCATAACATACTTAGCTGTTAAATTTTGAACTGCTAATTACTAATACTTGAATACCAATAGTTACTGAGATTCCTATTTTGTGGTTAGTCTGACTCAGGATTTGGAGCCTAATTAACTCTAAACTTTTGAAAATTTTAATCATCAAGCTATAGAGGCTCCAAGTGCAATTAATAATAACTCATTTATACCTTCCACAGAATTTAATAAAGATTCTACTTGTTTCTGTCTTTTAATAACTTTCCCCTTTTGTGCCCTTGTGGCCTCAGAAATCCTTAAGAATTGCATGGATGAATGTGACCATAACTGATTTTGGAATGGTTCAGTTTAGGAACCAAGAGGCCCAGGTGAGGCAACATCTTTTTTCTCTACAGGTACCAACAAACCTTGACTTGTCAGCTTCCATCATCAATTAAGATTCTCAGAATTTGCAATTAATTGAATAGAATTCATTTACTATCTGCCCACTCAAAGAAGTACAAGGGTAGAGTAAGCTAACTGGGCTTTAACATGGTCAGAATGTCTGGTGCATGAACTATAAAAAAGAGAACTGTCTCCCATCCCCTTCCTTGTTTTACTCTTAGTAACATCCAGAATTCCCTGGAACAGATTGCCTACCACCAGACCTTAGAAAAGACTGTCATTCTCTTGCTCCTTACTTGAAATACAAATATTGGGAATGTCACAGACATCAAGCAACTACTGTCAAGTGGGAGGAGAGAATGAGCAGAATTGCTGACTCCTATTTGTAGAGTGAAAAGGAGGAGTGATAATAGATGCCCTTCTGTCTAGCTTTCCTTTCTTCAACTAGTGGTAATGCAAGATTAGAATCAAGGTTGACAGGAGGCAAGGTCACTCACTGAAGTGACAGAAAGACAATTCTCCTTTGCTCCAAAGAGAGAAATCTGTCACCTTTGCACCTCACTGCCTTTAAACACAGACGGGAGGGCAGGCCAAATCTCAGCATTGACTTTTGTCCTCCAAGAGAGGAAGAGAAGAAGTAATTGGGCAACTTGGAGGCCCACGCCCCAGCTAGCCTTCCTGATCGTAACCTCCAACCTCAGGAAAGGGACCTTCCCAAAACACAGATCCCAAAGGAAACAAAATAGACCAAGGAGCATAATCTGCTTCTCTCACACAGCCTCTCTGCCAGTGGACCCTGCCTGCTTCCCTCTCAGTGCTCAGCACTCTGTGTAGTGTCTTTCAGGTTGATACACTCTCCCAAGGTGCAGGCGCTGGCCCCATGAGCCCAGCACCAAAGTTTTCTAAGTCATAGGTCAGACTGTCAAGATCATTTCTTTATCTATAGGTTGATATTTAGCTTAAAAAAAAAGAATAAACCTAGAACTCAAAGGAAACCTGTTGCAAATAGCTTAGATCAACAGTGTATCTCTTCCCTAAGAATGATAGTATCTTAGTAAGACACCTTCTATGCATGGTATGGAAGCATGATTTTTGCTTGTGGGAAAACCTAATATTTTATCAGACCCCTCGGACTTCTCAATCCCTCCCTCTCCACACAGTAGTACTTAATGAAAATGTTTTGCTTTAGAGAGCAAAATGCTACTTTCAGAAGACACTGAAATAGTATATGTATTTGCTTACCATTTGCAAGCTAAAATCAAGGTGGGATGGGGTCATTATTTTCACATAGAATGTATTTATTTTGTGCAGGCTGTTAAACACATCTGGCACCTAGTTTTTCCATTAAGAGCATTGCTATTTTCCCTTTTTATAAAGTAGCTTCTGCTGTCAAGGTTAACAATTCTATATGCTTTAGGAAGCTAAGTTCTAATTTCCTTTTGTGAGTTTCATTTCTTTTATAACCAGTATGTTACCACAGACATCAGTTGCAAAGCTACGATGATAGTGTGATTCTTAGCCGAAAAAAAAGCGTGTGCTCTTAAAGTATGTTCAGTTTTTCTGTCTACATATGCTTTGTGTGAGTTAAAAAGGGGGTGGGTGGTGTAAATATTCCTTTAGCTGCTTTGCATATTTAACCCAGTCATCAAAAGGCATAAATGACTTCAATATTTTATATATCTTGGTTTTCAAGTATCATTTCACATTCTCTATACATGACTTTGTTATTGTGGAATACAAGCCTGCAATGGATGTATATATACAGAACATTAATAATTCTTAGAAGGATGGAAGCCAAATGGCTGCATGATGGAAATTAGAAGAAAAAAAAAGCAGAAACTTGAATTTGCTAAGCATGTTTGGGGGGAAATAGAATCCTTAACTCAGTGCCTCTGTCTGCGATATGGAAACCTTCAACTTTGTTCACCAAAATTGTATTATACCTGTGTATATATATATATATATATATATATAAATATAAATATAGTATAGTGAATCAGACACCATCAGTTTTAAGTCTCTGGTAGCCAAACTTAAATAAATAATCCATAGAATATCACATACGTTCACTCCATCTTCATCTCTGAAGTTAGTGGAGACCATCAAAATGACTGTACATTTCATAACTCTGGGAAGATTTCAAATGTGAAGTGCCCCTGTGCATTTTCTTGGCCATAGCACGGCATTCTTGCTTTAGCTGTGCTTTCCTGGGATGAGAAGATCTTGGTGTATTTAACACATAAGCTTTGTTAGAAATCACCTCTGAAGATCATTTCATTTTCTCACTTTGGGTTGTTGCAAGACAAAGCAAAGGAAAAGGAACACAATGAAGGAGGCCGTGACATTTTTAGTTGCCACCGTTGTAACTCAAACAATATGGGTTTGTTGGTGAACTGATTTATCAAGGCTTCTGTTACGGTTTTGCATCTGTGTGTGAGGAAAATTTTAATTTATTTGGAAGTATTTATTAGCCATGTTGTTGGTCCTGAAAATAAATCTCTAAGTAGCACAGTTGTGGGTATATTATGCAGACACTTACCACAATACCTGCAAAAGTAACTGTGGTTTTCTTTCAAGACACTGTAATAAACAGTGAACTAAGAGAATAGATTCTGATACATCTCGATAAATCATTCTCTGCAAAAGTTTCAGGGCTAATGTATTTATGTGTATTTTTAAATTCTACTTTCTTTGGCATCTCTTCATGGCTCAGCGACAACAAAGTAATAGGTCATTGGCTGGCTTACGTCGATAGGAATTTTACTCTTAAGAAGGGCCAGTGTATAGCTGACTCTACATATAATGTGTAATCAGATAATCCAATAGAGAGGAATTGTCCAAATAGTTTTAGTACCTTTCTGATCATCTGACTCAGTAGGCTAGGAGACAATCTGTCATCTGAGCCATAGTTCTTGAGATTTAAAAAGTCTGTCCAGTGACTGCAATCTGATTATGAATAAACTATTTTAACTATTCATTCTTGCTGAAACTGAAGTGTACACAATAGCACACTGTTGGCATGCTGAGGCAAAACATTGGGTTCTTTTGTGTTCTACCTTCAAAACAATCTGTTTGCATTTGAAATATAAGTGTTTAAGCTTTTTAGGAGTTAGTGTAATAAGAGAATGTGAATATGTTGGGAAATTTTCAGATGCCATTAATAATTGTAATTTTGTTGTTAAATTAACAAGGACTTTAGGATAAGCCTCTTGATGTTTTTTGCTTTAAATTGAAAGCATGTCTGTCAAATTGCAAGTCTCCCTTCAGTTTCTATATATCACCCAGGAGAGGGTCTCTGAGTTGGTGTTGTACCTGTACCACTCACATGTAGCTCAAGTGTAATTTGTAGTGTTTACATTCAAGCTGGGATCTTGATTGGTTAAATTAATCCACATACCACTGCCACTGCTGAAGGACCAGGTGTTGGAATACACAGCATTACAGACTATAAGCAAAGCAAACAAAAGTTGATCCTTACATATGCCATCCTTCTGTGTCATTTTGTGGCTGTTCTGTGTTTTTCTTCCTAGTTATTTATTATTGTTAATAACTTACTTTTTCTTACATTCTGTTGTAAATAAAATACAAAGCAATCTTCTTTGC)$ MRRRRRRDGFYPAPDFRDREAEDMAGVFDIDLDQPEDAGSEDELEEG|YKIGQLYMISKHSHEQSDRGEGVEVVQNEPFEDPHHGNGQFTEKRVYLNSKLPSWARAVVPKIFYVTEKAWNYYPYTITECSFLPKFSIHIETKYEDNKGSNDTIFDNEAKDVEREVCFIDIACDEIPERYYKESEDPKHFKSEKTGRGQLREGWRDSHQPIMCSYKLVTVKFEVWGLQTRVEQFVHKVVRDILLIGHRQAFAWVDEWYDMTMDDVREYEKNMHEQTNIKVCNQHSSPVDDIESHAQTST* 05BR005 ENSG00000263069.6 ENSG00000263069.6 -/+ -/- chr17:80370026 chr17:80352511 intron exon inversion/3'-3' 1 2 0 11 25 medium . . . . . ENSG00000263069.6 ENSG00000263069.6 . ENST00000575034.5 downstream downstream . AACATGGAGACTTGCTTCTGGAAAGCCCTGGCTTTTTCTCTTCATCGCAGCGTTTTGTTACCAAGTCTTCTTGTCGTGACTAGTAGCTAGTACATGATCTTGGGGAGCTTTTTCGGTGAGACACAGCCTGGTTACTTGTACTGGTTGTGTA|GCTGGTGACCATTCCTTGGAAAAAAAGAGATCTGAAGATAGTCCaACCCCCGCCACTCTCCCTCCCCGCCAAACAGGCGTATCGGTGCGTTCCTGACAGTGTCTGTCGGGAGTCGGGAGTCTCCACGCCGTGTGACCTACATGCTAAGAGGTGAGGAGCTTGCCTAGAGTCAGTCCAGGAGAGGTGCACGCAGCCTCCCATCCCAGGATTCATGTTTTCATGGTAATCAGTGGTAAGAAATCTAATTGCATCTGGA(AAGAATCCTCTTGAGGTTAACAATAATATTCTAATTTCAGACTGTACAACACAGAACCAAATGAGAAACAGTTCCAACATGACTTAAATAAATACACTGACTGGGCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGAGCGGATCATGAGGTCAACGGATTGAGACCATCTAGGCCAACGTGGTGAAACCCCGTCACTACTAAACATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATGCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATTGAGGTTGTAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAATAAATAGATACAAATAAATAAATAAATACATAAATAAATA)$ . 05BR005 ENSG00000151692.15 ENSG00000185158.12 +/+ +/+ chr2:6917622 chr17:32034910 5'UTR/splice-site CDS/splice-site translocation 0 2 0 2 16 medium . . |LRRC37A/B_like_protein_1_C-terminal_domain(100%),Leucine_rich_repeat(100%) . . ENSG00000151692.15 ENSG00000185158.12 ENST00000320892.11 ENST00000543378.6 downstream upstream duplicates(1) ^(CTCTGTGCGCGCTCGCGCCCCGCCCGCGCAGCCGCTTCTCCCCGCGCGGGCTCTCGGCAGGCGGGAGGCGGCAGGGCTGGCATTGCAGTGCGGGCCGTGCGGGCTGCGCGGGCGCGGGGAGGCGCGGGCGGCAAACTGCGGGCA)CCCGGCACCCCGCAGCCAGTACCGGGCGGAGGCGTCAGAGCCGCGCACCGCGGACGAGCAGGCCCAG|AATTCTCAATCGCAATCCTCTGACTACTGTCGAAGATCCATATCTCTTTGAACTGCCGGCATTAAAATATCT___AGACATGGGAACAACACACATCACACTTACAACACTTAAGAACATTCTCACGATGACTGTTGAACTGGAAAAACT___GATCTTACCTAGCCATATGGCCTGCTG(CCTCTGCCAATTTAAAAATAGCATTGAGGCTGTCTGCAAGACAGTCAAGCTGCATTGCAACACTGCATGTCTGACTAACAGCATACATTGTC___CTGAAGAAGCATCTGTAGGGAATCCAGAAGGAGCGTTCATGAAGATGTTACAAGCCCGGAAGCAGCACATGAGCACTCAGCTGACTATTGAGTCGGAGGCGCCCTCAGACAGCAGTGGCATCAACTTGTCAGGCTTTGGGG___GTGATCAGCTTGAAATTCAGCTAACCGAGCAGCTACGGTCCCTCATCCCCAACGAGGATGTGAGAAAGTTCATGTCTCATGTTATCCGGACCTTGAAAATGGAATGTTCAGAAACACATGTGCAAGGGAGCTGTGCCAAGCTCATGTTGCGAACAGGCCTCCTGATGAAGCTTCTCAGCGAGCAGCAGGAAGCAAAGGCATTGAATGTAGAATGGGATACGGACCAACAAAAAACAAATTATATTAATGAGAACATGGAACAGAATGAACAGAAAGAGCAGAAGTCAAGTGAG___CTCATGAAAGAAGTTCCAGGAGATGACTATAAGAACAAACTCATCTTCGCAATATCTGTGACTGTAATACTAATAATTTTGATTATAATTTTTTGTCTTATAGAG___GTGAATTCACATAAAAGGGCATCAGAAAAATACAAAGACAACCCATCAATATCAGGAGCCTGAGCATGAGTTAAAGCATGTGGATGGCCTGGAGCTATGTTTTTAAAATTGTTATTAAATATTGGTTTTTTACTTAAATCAATGAAAACTTTCTTTACTTTGTGGTTGTGTTCCTCAAAATGAGAATTTTTAACAATAATAAAAATAAAGCTTGTTAGATC)$ . 05BR005 ENSG00000108468.15 ENSG00000187775.17 -/- -/- chr17:48100755 chr17:78460223 5'UTR/splice-site CDS duplication 0 2 0 7 7 medium . . |ATP-binding_dynein_motor_region_D5(100%),Dynein_heavy_chain_and_region_D6_of_dynein_motor(100%),Microtubule-binding_stalk_of_dynein_motor(100%) . . ENSG00000108468.15 ENSG00000187775.17 ENST00000393408.7 ENST00000389840.7 upstream downstream . ^(GTGAGGGAACGCGCTTTCGAGGCGGAGGTTAGGAGCGGGGAGCGCGCCCGGGTCCAGCGTCCTGCTTCTCCGCTTCCCGCGCTGAGCTCTTCGCCTGTCGCTGAGGCGTCGGTGCCAGCTGCGTGAAGGATGGAGAGGGCGGGGCGCGAATCCTGAGCCAGAGACTGAGTGCTTGGGGGTGGGCCGAGCACTTGGGGGCCGCTCTTCGGGGCCCGGGTGGTCTGGAACAATGTTGCTTGGCTGGGCGGCTGCGGGATAGGGCGGAAGGGGACAGGCTTGAGGCTTGGATAGGCGTGAGGAGGCGCATACGACCGCACAACCCGAGGTTTGTAACTGTATTCGGAAGA)CGCCGGGTCCGGCTGGGACTGCCAGAGGAACCTGGCTTTGCAGGACTACGGAGGAGTAACGTCGAGTGAATTGGAAGAGGGCCCAGGGCCGCACAAG|ACCTGGCCAAAGCAGAACCGGCCCTGCTGGCAGCCCAGGAGGCTCTGGACACTCTGAATAAG___AACAACCTGACAGAGCTGAAGTCCTTTGGGTCCCCGCCGGATGCTGTGGTCAACGTCACCGCCGCCGTCATGATTCTGACCGCACCTGGGG(GCAAGATCCCCAAGGACAAGAGCTGGAAGGCGGCCAAGATCATGATGGGCAAGGTGGACACCTTCCTAGACTCCCTGAAGAAGTTCGACAAGGAGCACATCCCTGAGGCCTGCCTGAAGGCCTTCAA___GCCCTACCAAGGCAACCCGACGTTCGACCCCGAGTTCATCCGCTCCAAGTCCACGGCCGCCGCCGGCCTGTGCTCCTGGTGCATCAACATCGTCCGCTTCTACGAGGTCTACTGCGACGTGGCGCCCAAGAGGCAGGCACTGGAGGAGGCTAATGCAGAGCTGGCAGAGGCACAAGAGAAGCTGTCCCGGATCAAAAACAAGATTGCC___GAACTTAACGCCAACCTGAGCAACCTAACCTCAGCGTTTGAAAAAGCAACAGCTGAGAAAATCAAGTGTCAGCAAGAGGCCGATGCCACGAACAGGGTGATCTTACTGGCGAACAG___GCTGGTCGGGGGATTAGCATCGGAAAACATCCGCTGGGCTGAGTCTGTGGAGAACTTCAGGAGCCAGGGGGTCACGCTGTGTGGGGACGTCCTGCTCATCTCTGCCTTCGTGTCCTACGTGGGCTACTTCACCAAGAAATACCGGAATGAGCTGATGGAGAAATTCTGGATCCCTTACATACATAACTTAAAG___GTCCCCATCCCGATCACGAATGGCCTGGATCCCTTGAGCCTGCTGACAGATGACGCGGACGTGGCCACCTGGAACAACCAGGGCCTCCCCAGCGACCGCATGTCCACCGAGAATGCCACCATCCTGGGCAACACCGAGCGGTGGCCGCTGATCGTGGACGCCCAGCTCCAAGGAATCAAGTGGATCAAAAACAAATACAGGAGTGAACTGAAAGCCATCCGCCTGGGACAGAAGAG___CTACCTGGATGTCATCGAGCAGGCCATCTCGGAAGGGGACACCTTGCTCATTGAGAACATCGGCGAAACCGTGGACCCCGTGCTGGACCCTCTACTGGGCAGGAACACGATTAAAAAGGGAAA___GTACATTAAGATCGGTGACAAGGAGGTGGAGTACCACCCCAAGTTCCGCCTGATCCTACACACCAAGTACTTCAACCCACACTACAAGCCAGAGATGCAGGCTCAGTGCACCCTCATCAACTTCCTGGTCACCAGGGATGGACTCGAGGACCAACTCTTGGCCGCTGTGGTGGCCAAAGAGCGCCCAGATCTGGAACAGCTGAAG___GCAAACCTCACCAAGTCTCAAAACGAATTTAAGATTGTTCTGAAAGAGCTGGAAGATTCGCTCCTGGCCCGTCTGTCGGCTGCGTCGGGGAACTTTCTGGGAGACACGGCCTTGGTGGAGAATCTGGAGACCACCAAGCACACAGCCAGCGAGATCGAGGAGAAG___GTGGTGGAGGCAAAAATCACAGAAGTTAAAATCAACGAAGCGAGAGAGAACTACCGCCCGGCTGCGGAGAGGGCATCTCTGCTCTACTTCATACTGAACGATCTCAACAAAATCAACCCCGTCTACCAGTTCTCCCTCAAG___GCCTTCAACGTGGTGTTTGAGAAAGCCATCCAGAGGACCACCCCTGCCAACGAGGTGAAGCAGCGGGTGATCAACCTGACGGACGAGATCACCTACTCCGTCTACATGTACACGGCCCGGGGACTCTTCGAGAGGGACAAACTCATTTTCCTGGCACAAGTTACGTTTCAG___GTCCTGTCCATGAAGAAGGAGCTGAACCCAGTGGAGCTGGATTTCCTCCTGCGGTTCCCTTTTAAGGCCGGAGTGGTCTCACCAGTGGACTTCCTCCAGCATCAAGGCTGGGGCGGGATCAAG___GCCCTCTCGGAGATGGATGAGTTCAAAAATCTGGACAGTGACATCGAAGGATCTGCCAAGCGCTGGAAAAAGCTGGTGGAGTCGGAAGCCCCCGAGAAGGAGATCTTCCCCAAGGAGTGGAAGAACAAGACGGCCCTGCAGAAGCTGTGCATGGTGCGCTGCCTGCGGCCAGATCGCATGACCTACGCTATCAA___GAACTTCGTGGAGGAAAAGATGGGCAGCAAGTTCGTGGAAGGCCGGAGTGTTGAGTTTTCTAAGTCCTACGAGGAGAGCAGCCCCTCCACGTCAATCTTCTTCATCCTCTCCCCGGGGGTTGACCCCTTGAAAGACGTGGAAGCCCTGG___GAAAAAAACTAGGGTTTACCATAGACAATGGAAAACTCCATAATGTGTCCCTGGGGCAGGGACAAGAGGTGGTGGCTGAGAACGCCCTGGACGTGGCTGCAGAGAAAGGACACTGGGTCATTCTGCAG___AATATCCACCTGGTGGCCCGGTGGCTGGGAACACTGGACAAGAAGCTGGAGCACTACAGCACGGGCAGCCATGAGGACTACCGGGTGTTCATCAGCGCGGAGCCTGCCCCCAGCCCCGAGACCCACATCATCCCCCAGGGCATTCTGGAGAACGCCATCAAGATCACCAACGAGCCCCCCACGGGCATGCACGCCAACTTGCACAAGGCCCTGGACCTGTTCACCCAG___GACACCCTGGAGATGTGCACCAAGGAGATGGAGTTCAAGTGCATGCTCTTCGCCCTGTGCTACTTCCACGCTGTGGTGGCAGAGAGGCGCAAGTTCGGCGCCCAGGGCTGGAACCGGTCGTACCCCTTCAACAACGGGGACCTCACCATCTCCATCAACGTGCTCTACAACTACCTGGAGGCCAACCCCAAG___GTGCCCTGGGACGATCTCCGCTACCTTTTTGGTGAAATCATGTATGGCGGCCACATCACAGATGACTGGGACCGTCGGCTGTGCAGGACCTACCTGGCTGAATACATCCGGACGGAGATGCTGGAGGGAGACGTCCTGCTGGCCCCCGGCTTTCAGATCCCCCCCAACCTGGACTACAAG___GGTTACCACGAATACATCGATGAGAACCTGCCCCCTGAGAGTCCCTATCTGTATGGCCTGCACCCCAACGCAGAGATTGGCTTTCTGACGGTCACCTCAGAGAAGCTGTTCCGCACTGTCCTGGAAATGCAGCCAAAAGAGACGGACTCGGGGGCAGGCACGGGAGTGTCCCGCGAGGAGAAG___GTGAAGGCCGTGCTGGACGACATCCTGGAGAAGATTCCGGAGACTTTCAACATGGCTGAGATCATGGCAAAGGCAGCGGAAAAGACCCCCTACGTGGTAGTCGCCTTTCAAGAATGTGAAAGAATGAACATCCTGACCAACGAAATGCGCCGTTCGCTCAAGGAGCTGAACCTGGGGCTGAAG___GGAGAACTGACCATCACGACCGACGTGGAAGATCTGTCCACGGCTCTCTTCTATGACACCGTGCCTGATACGTGGGTGGCCCGGGCCTACCCCTCCATGATGGGCCTGGCGGCCTGGTACGCAGACCTGCTGCTCCGCATCAGG___GAACTCGAGGCCTGGACGACAGACTTTGCCCTGCCCACCACCGTGTGGCTGGCCGGCTTCTTCAACCCCCAGTCGTTCCTCACGGCCATCATGCAGTCCATGGCCAGGAAGAACGAGTGGCCCCTGGACAAGATGTGTCTGTCTGTCGAGGTGACCAAGAAAAACCGAGAGGACATGACCGCTCCTCCGCGAGAGGGCTCCTACGTGTACGGACTCTTCATGGAAG___GGGCTCGCTGGGACACCCAGACTGGAGTCATCGCTGAAGCGCGGCTGAAAGAGCTGACCCCGGCCATGCCTGTCATCTTCATCAAGGCCATTCCTGTGGACCGCATGGAGACCAAGAACATCTATGAGTGTCCCGTGTACAAAACACGCATCCGCGGCCCCACCTATGTCTGGACCTTTAACTTGAAGACCAAAGAGAAGGCAGCGAAGTGGATCCTGGCAGCCGTGGCGCTGCTCCTACAGGTTTAGCTCGCTCCTGCCTCACAGCCCACACTCCCTGGGGCTGGACCACAACTCAGCCCTTCACCTGTGCACCTGTGACTTATTCTTTACAGGAACTGGTGGTGGTTTTTCGTTCTCTTAAATAATCAGGTGCTTTGTAACCAAGCACATCGGAACCAGAGGGTGGAGGTTGGTGTGGAAGAGGTGGGGCAGATTAAAGCCAGTGGAGCCACTCA)$ . 05BR009 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 20 17 1 81 49 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream low_entropy(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACA)GGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05BR009 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 9 8 0 40 21 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream mismatches(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGC)CAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTGGTGAGGCAtAGC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvgea* 05BR009 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 8 1 17 21 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream . AGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGgCATCTTCATCACCAGCGTGGcCGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGC?CCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGgCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAG(ACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05BR009 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 6 0 124 53 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGG)CATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTT...___AACAGACAAAAGGACGTGGAATGTACTTTCTGCTACAGCCATTACAGTCAACTAGATTTGAGTGCTGCCGCTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05BR009 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 9 3 0 21 14 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream inconsistently_clipped(2) GATGGCAACTGTCGTGAGAGTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGcTGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATT(AGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 05BR009 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 10 0 12 68 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream . GCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTAT(GCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05BR009 ENSG00000243378.1(11420),ENSG00000260377.1(35964) ENSG00000058063.16 ./+ +/+ chr3:182703705 chr3:182820260 intergenic CDS/splice-site deletion/read-through 5 4 1 139 142 medium . . |Cation_transport_ATPase_(P-type)(100%),E1-E2_ATPase(100%),Phospholipid-translocating_ATPase_N-terminal(100%),Phospholipid-translocating_P-type_ATPase_C-terminal(100%) . . . ENSG00000058063.16 . ENST00000323116.10 downstream upstream duplicates(2),mismappers(1) CAGAGTTCAGCTGGAGATTTCCTTCTCCCTGTGGCCTATTCCCAGGGCCTCTAGCTGCCCTCCCAAAGGATCCCTGTGAGGCCAGGAAGGAATGGCCTTCCTGGGGACCCAGGAGCTCCCAGCACCTTTCCGGCTGCTTCCTCTACCTCTGTATTTTGCTCAGCTCTCTAAATTGACTCAGCTCCAG|GGTTTTGACCCACCACATCAGAGTGACACAAGAACCATCTACGTAGCCAACAGGTTTCCTCAGAATGGCCTTTACACACCTCAGAAATTTATAGATAACAGGATCATTTCATCTAAG___TACACTGTGTGGAATTTTGTTCCAAAAAATTTATTTGAACAGTTCAGAAG(AGTGGCAAACTTTTATTTTCTTATTATATTTTTGGTTCAG___CTTATGATTGATACACCTACCAGTCCAGTTACCAGTGGACTTCCATTATTCTTTGTGATAACAGTAACTGCCATAAAGCAG___GGATATGAAGATTGGTTACGGCATAACTCAGATAATGAAGTAAATGGAGCTCCTGTTTATGTTGTTCGAAGTGGTGGCCTTGTAAAAACTAGATCAAAAAACATTCGG___GTGGGTGATATTGTTCGAATAGCCAAAGATGAAATTTTTCCTGCAGACTTGGTGCTTCTGTCCTCAGATCGACTGGATGGTTCCTGTCACGTTACAACTGCTAGTTTGGACGGAGAAACTAACCTGAAG___ACACATGTGGCAGTTCCAGAAACAGCATTATTACAAACAGTTGCCAATTTGGACACTCTAGTAGCTGTAATAGAATGCCAGCAACCAGAAGCAGACTTATACAG___ATTCATGGGACGAATGATCATAACCCAACAAATGGAAGAAATTGTAAG___ACCTCTGGGGCCGGAGAGTCTCCTGCTTCGTGGAGCCAGATTAAAAAACACAAAAGAAATTTTTG___GTGTTGCGGTATACACTGGAATGGAAACTAAGATGGCATTAAATTACAAGAGCAAATCACAGAAACGATCTGCAGTAGAAAA___GTCAATGAATACATTTTTGATAATTTATCTAGTAATTCTTATATCTGAAGCTGTCATCAGCACTATCTTGAAGTATACATGGCAAGCTGAAGAAAAATGGGATGAACCTTGGTATAACCAAAAAACAGAACATCAAAGAAATAGCAGTAAG___ATTCTGAGATTTATTTCAGACTTCCTTGCTTTTTTGGTTCTCTACAATTTCATCATTCCAATTTCATTATATGTGACAGTCGAAATGCAGAAATTTCTTGGATCATTTTTTATTGGCTGGGATCTTGATCTGTATCATGAAGAATCAGATCAGAAAGCTCAAGTCAATACTTCCGATCTGAATGAAGAGCTTGGACAG___GTAGAGTACGTGTTTACAGATAAAACTGGTACACTGACAGAAAATGAGATGCAGTTTCGGGAATGTTCAATTAATGGCATGAAATACCAAGAAATTAATGGTAGACTTGTACCCGAAGGACCAACACCAGACTCTTCAGAAGGAAACTTATCTTATCTTAGTAGTTTATCCCATCTTAACAACTTATCCCATCTTACAACCAGTTCCTCTTTCAGAACCAGTCCTGAAAATGAAACTGAACTA___ATTAAAGAACATGATCTCTTCTTTAAAGCAGTCAGTCTCTGTCACACTGTACAGATTAGCAATGTTCAAACTGACTGCACTGGTGATGGTCCCTGGCAATCCAACCTGGCACCATCGCAGTTGGAGTACTATGCATCTTCACCAGATGAAAAGGCTCTAGTAGAAGCTGCTGCAAG___GATTGGTATTGTGTTTATTGGCAATTCTGAAGAAACTATGGAGGTTAAAACTCTTGGAAAACTGGAACG___GTACAAACTGCTTCATATTCTGGAATTTGATTCAGATCGTAGGAGAATGAGTGTAATTGTTCAGGCACCTTCAG___GTGAGAAGTTATTATTTGCTAAAGGAGCTGAGTCATCAATTCTCCCTAAATGTATAGGTGGAGAAATAGAAAAAACCAGAATTCATGTAGATGAATTTGCTTTG___AAAGGGCTAAGAACTCTGTGTATAGCATATAGAAAATTTACATCAAAAGAGTATGAGGAAATAGATAAACGCATATTTGAAGCCAGGACTGCCTTGCAGCAGCGGGAAGAGAAATTGGCAGCTGTTTTCCAGTTCATAGAGAAAGACCTGATATTACTTGGAGCCACAGCAGTAGAAGACAG___ACTACAAGATAAAGTTCGAGAAACTATTGAAGCATTGAGAATGGCTGGTATCAAAGTATGGGTACTTACTGGGGATAAACATGAAACAGCTGTTAGTGTGAGTTTATCATGTGGCCATTTTCATAGAACCATGAACATCCTTGAACTTATAAACCAGAAATCAGACAGCGAGTGTGCTGAACAATTGAGGCAGCTTGCCAGAAG___AATTACAGAGGATCATGTGATTCAGCATGGGCTGGTAGTGGATGGGACCAGCCTATCTCTTGCACTCAGGGAGCATGAAAAACTATTTATGGAAGTTTGCAGAAATTGTTCAGCTGTATTATGCTGTCGTATGGCTCCACTGCAGAAAGCAAAA___GTAATAAGACTAATAAAAATATCACCTGAGAAACCTATAACATTGGCTGTTGGTGATGGTGCTAATGACGTAAGCATGATACAAGAAGCCCATGTTGGCATAG___GAATCATGGGTAAAGAAGGAAGACAGGCTGCAAGAAACAGTGACTATGCAATAGCCAGATTTAAGTTCCTCTCCAAATTGCTTTTTGTTCATGGTCATTTTTATTATATTAGAATAGCTACCCTTGTACAGTATTTTTTTTATAAG___AATGTGTGCTTTATCACACCCCAGTTTTTATATCAGTTCTACTGTTTGTTTTCTCAGCAA___ACATTGTATGACAGCGTGTACCTGACTTTATACAATATTTGTTTTACTTCCCTACCTATTCTGATATATAGTCTTTTGGAACAGCATGTAGACCCTCATGTGTTACAAAATAAGCCCACCCTTTATCG___AGACATTAGTAAAAACCGCCTCTTAAGTATTAAAACATTTCTTTATTGGACCATCCTGGGCTTCAGTCATGCCTTTATTTTCTTTTTTGGATCCTATTTACTAATAGGGAAAGATACATCTCTGCTTGGAAATGGCCAG___ATGTTTGGAAACTGGACATTTGGCACTTTGGTCTTCACAGTCATGGTTATTACAGTCACAGTAAAG___ATGGCTCTGGAAACTCATTTTTGGACTTGGATCAACCATCTCGTTACCTGGGGATCTATTATATTTTATTTTGTATTTTCCTTGTTTTATGGAGGGATTCTCTG___GCCATTTTTGGGCTCCCAGAATATGTATTTTGTGTTTATTCAGCTCCTGTCAAGTGGTTCTGCTTGGTTTGCCATAATCCTCATGGTTGTTACATGTCTATTTCTTGATATCATAAAGAAGGTCTTTGACCGACACCTCCACCCTACAAGTACTGAAAAGGCACAG___CTTACTGAAACAAATGCAGGTATCAAGTGCTTGGACTCCATGTGCTGTTTCCCGGAAGGAGAAGCAGCGTGTGCATCTGTTGGAAGAATGCTGGAACGAGTTATAGGAAGATGTAGTCCAACCCACATCAGCAG___ATCATGGAGTGCATCGGATCCTTTCTATACCAACGACAGGAGCATCTTGACTCTCTCCACAATGGACTCATCTACTTGTTAAAGGGGCAGTAGTACTTTGTGGGAGCCAGTTCACCTCCTTTCCTAAAATTCAGTGTGATCACCCTGTTAATGGCCACACTAGCTCTGAAATTAATTTCCAAAATCTTTGTAGTAGTTCATACCCACTCAGAGTTATAATGGCAAACAAACAGAAAGCATTAGTACAAGCCCCTCCCAACACCCTTAATTTGAATCTGAACATGTTAAAATTTGAGAATAAAGAGACATTTTTCATCTCTTTGTCTGGTTTGTCCCTTGTGCTTATGGGACTCCTAATGGCATTTCAGTCTGTTGCTGAGGCCATTATATTTTAATATAAATGTAGAAAAAAGAGAGAAATCTTAGTAAAGAGTATTTTTTAGTATTAGCTTGATTATTGACTCTTCTATTTAAATCTGCTTCTGTAAATTATGCTGAAAGTTTGCCTTGAGAACTCTATTTTTTTATTAGAGTTATATTTAAAGCTTTTCATGGGAAAAGTTAATGTGAATACTGAGGAATTTTGGTCCCTCAGTGACCTGTGTTGTTAATTCATTAATGCATTCTGAGTTCACAGAGCAAATTAGGAGAATCATTTCCAACCATTATTTACTGCAGTATGGGGAGTAAATTTATACCAATTCCTCTAACTGTACTGTAACACAGCCTGTAAAGTTAGCCATATAAATGCAAGGGTATATCATATATACAAATCAGGAATCAGGTCCGTTCACCGAACTTCAAATTGATGTTTACTAATATTTTTGTGACAGAGTATAAAGACCCTATAGTGGGTAAATTAGATACTATTAGCATATTATTAATTTAATGTCTTTATCATTGGATCTTTTGCATGCTTTAATCTGGTTAACATATTTAAATTTGCTTTTTTTCTCTTTACCTGAAGGCTCTGTGTATAGTATTTCATGACATCGTTGTACAGTTTAACTATATCAATAAAAAGTTTGGACAGTATTTAAATATTGCAAATATGTTTAATTATACAAATCAGAATAGTATGGGTAATTAAATGAATACAAAAAGAAGAGCCTCTTTCTGCAGCCGACTTAGACATGCTCTTCCCTTTCTATAAGCTAGATTTTAGAATAAAGGGTTTCAGTTAATAATCTTATTTTCAGGTTATGTCATCTAACTTATAGCAAACTACCACAATACAGTGAGTTCTGCCAGTGTCCCAGTACAAGGCATATTTCAGGTGTGGCTGTGGAATGTAAAAATGCTCAACTTGTATCAGGTAATGTTAGCAATAAATTAAATGCTAAGAATGATTAATCGGGTACATGTTACTGTAATTAACTCATTGCACTTCAAAACCTAACTTCCATCCTGAATTTATCAAGTAGTTCAGTATTGTCATTTGTTTTTGTTTTATTGAAAAGTAATGTTGTCTTAAGATTTAGAAGTGATTATTAGCTTGAGAACTATTACCCAGCTCTAAGCAAATAATGATTGTATACATATTAAGATAATGGTTAAATGCGGTTTTACCAAGTTTTCCCTTGAAAATGTAATTCCTTTATGGAGATTTATTGTGCAGCCCTAAGCTTCCTTCCCATTTCATGAATATAAGGCTTCTAGAATTGGACTGGCAGGGGAAAGAATGGTAGAGACAGAAATTAAGACTTTATCCTTGTTTGCTTGTAAACTATTATTTTCTTGCTAATGTAACATTTGTCTGTTCCAGTGATGTAAGGATATTAAGTTATTAAGCTAAATATTAATTTTCAAAAATAGTCCTTCTTTAACTTAGATATTTCATAGCTGGATTTAGGAAGATCTGTTATTCTGGAAGTACTAAAAAGAATAATACAACGTACAATGTCTGCATTCACTAATTCATGTTCCAGAAGAGGAAATAATGAAGATATACTCAGTAGAGTACTAGGTGGGAGGATATGGAAATTTGCTCATAAAATCTCTTATAAAACGTGCATATAACAAAATGACACCCAGTAGGCCTGCATTACATTTACATGACCGTGTTTATTTGCCATCAAATAAACTGAGTACTGACACCAGACAAAGACTCCAAAGTCATAAAATAGCCTATGACCAACTGCAGCAAGACAGGAGGTCAGCTCGCCTATAATGGTGCTTAAAGTGTGATTGATGTAATTTTCTGTACTCACCATTTGAAGTTAGTTAAGGAGAACTTTATTTTTTTAAAAAAAGTAAATGGCAACCACTAGTGTGCTCATCCTGAACTGTTACTCCAAATCCACTCCGTTTTTAAAGCAAAATTATCTTGTGATTTTAAGAAAAGAGTTTTCTATTTATTTAAGAAAGTAACAATGCAGTCTGCAAGCTTTCAGTAGTTTTCTAGTGCTATATTCATCCTGTAAAACTCTTACTACGTAACCAGTAATCACAAGGAAAGTGTCCCCTTTGCATATTTCTTTAAAATTCTTTCTTTGGAAAGTATGATGTTGATAATTAACTTACCCTTATCTGCCAAAACCAGAGCAAAATGCTAAATACGTTATTGCTAATCAGTGGTCTCAAATCGATTTGCCTCCCTTTGCCTCGTCTGAGGGCTGTAAGCCTGAAGATAGTGGCAAGCACCAAGTCAGTTTCCAAAATTGCCCCTCAGCTGCTTTAAGTGACTCAGCACCCTGCCTCAGCTTCAGCAGGCGTAGGCTCACCCTGGGCGGAGCAAAGTATGGGCCAGGGAGAACTACAGCTACGAAGACCTGCTGTCGAGTTGAGAAAAGGGGAGAATTTATGGTCTGAATTTTCTAACTGTCCTCTTTCTTGGGTCTAAAGCTCATAATACACAAAGGCTTCCAGACCTGAGCCACACCCAGGCCCTATCCTGAACAGGAGACTAAACAGAGGCAAATCAACCCTAGGAAATACTTGCATTCTGCCCTACGGTTAGTACCAGGACTGAGGTCATTTCTACTGGAAAAGATTGTGAGATTGAACTTATCTGATCGCTTGAGACTCCTAATAGGCAGGAGTCAAGGCCACTAGAAAATTGACAGTTAAGAGCCAAAAGTTTTTAAAATATGCTACTCTGAAAAATCTCGTGAAGGCTGTAGGAAAAGGGAGAATCTTCCATGTTGGTGTTTTTCCTGTAAAGATCAGTTTGGGGTATGATATAAGCAGGTATTAATAAAAATAACACACCAAAGAGTTACGTAAAACATGTTTTATTAATTTTGGTCCCCACGTACAGACATTTTATTTCTATTTTGAAATGAGTTATCTATTTTCATAAAAGTAAAACACTATTAAAGTGCTGTTTTATGTGAAATAACTTGAATGTTGTTCCTATAAAAAATAGATCATAACTCATGATATGTTTGTAATCATGGTAATTTAGATTTTTATGAGGAATGAGTATCTGGAAATATTGTAGCAATACTTGGTTTAAAATTTTGGACCTGAGACACTGTGGCTGTCTAATGTAATCCTTTAAAAATTCTCTGCATTGTCAGTAAATGTAGTATATTATTGTACAGCTACTCATAATTTTTTAAAGTTTATGAAGTTATATTTATCAAATAAAAACTTTCCTATATAA)$ . 05BR009 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 2 2 0 40 4 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATA)GTGTCAATGAGAAGCTGTCAGcCAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTG?CCACATTGAGGAATCGTGTAAAATGAATGTATGTGCTCGTAAGTGAAATATATGCAGTGTTCCAACTCAATATGTTGGATCCTAATAGACC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSaSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnps?hieesckmnvcark* 05BR009 ENSG00000259984.1 ENSG00000117616.18 -/- -/- chr1:25337040 chr1:25247029 exon/splice-site 5'UTR/splice-site deletion/read-through 2 2 0 21 86 medium . . |Arginine/Serine-Rich_protein_1(100%) . . ENSG00000259984.1 ENSG00000117616.18 ENST00000570165.1 ENST00000243189.12 upstream downstream inconsistently_clipped(1) ^(ATGACTTAGCTACGTGAAAGACTTGCGGCCGGGCTCGCCCCTCTTCTAGAAGCCGTCAGTTTGGGTCTCGCGTCTGGAATCACCGTCAAGGAGTCAGATCCAGCCCCGGAGAGGGAGCAGGGTCGAGGTCTCCTTGCAGAAGGCGCCACCGCAGGAAGCACAGGCGCAACGTGCGGTCTCCCTAGCGGAGGCGCTCGCGATCCTGCAGCCGCCGGTCCGGGAGGTGCTCGGTAGCCCTCCTTGGTGCCTGTCCGGTAGCTG)GTCACTCTCGGGGGAAGGTCGTGTGCAGAAGGGCACATGCGATCACACAGAGACGGCGTTGCTGCGGCTTTGACCCGATGGTGCACCCGAAAGAACACAGAGGGTGAAGGGAGAGATCCAGGAAGTGGTCGCGGAGCAGAACCCCCCTTCACTTCAGTTAAAAAG|GAAGTCCTGAGTTGAGGCTTGCGGGATCCTTTCCGGAGAAAGCGCAGGCTAAAGCCGCAGGTGAAGATGTCCAACTACGTGAACGACATGTGGCCGGGCgCGCCGCAGG(AGAAGGATTCGCCCTCGACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATTCCCGCGTCTCGAGCCGGTTTTCGTCCAGGAGTCGGAGGAGCAAGTCCAGGTCCCGTTCCCGAAGGCGCCACCAGCGGAAGTACAGGCGCTACTCGCGGTCATACTCGCGGAGCCGGTCGCGATCCCGCAGCCGCCGTTACCGAGAGAGGCGCTACGGGTTCACCAGGAGATACTACCGGTCTCCTTCGCGGTACCGGTCCCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTGTACCCGGAGGAGCACAGCAGATGGAGGGACAGATCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAG___ATCGAATGGAGCTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAGGAACAACCAACATTGACTTGCCAGCTAGTCTCAGAACTGTTCCTTCAGCCAAAGAAACAAGCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAA___CTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATGAAAAACCTACCCAGCAAAGAAGCATAGCTTTTAGCTCTAAT___AATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCAAGATCACCAAAAATAGATCAGAAAAAAAGTCCATATGGACTGTGGATACCTATCTAAAAGAAGAAAACTGATGGCTAAGTTTGCATGAAAACTGCACTTTATTGCAAGTTAGTGTTTCTAGCATTATCCCATCCCTTTGAGCCATTCAGGGGTACTTGTGCATTTAAAAACCAACACAAAAAGATGTAAATACTTAACACTCAAATATTAACATTTTAGGTTTCTCTTGCAGATATGAGAGATAGCACAGATGGACCAAAGGTTATGCACAGGTGGGAGTCTTTTGTATATAGTTGTAAATATTGTCTTGGTTATGTAAAAATGAAATTTTTTAGACACAGTAATTGAACTGTATTCCTGTTTTGTATATTTAATAAATTTCTTGTTTTCATTCTTA)$ . 05BR009 ENSG00000261349.1(604),ENSG00000187010.21(4699) ENSG00000117616.18 ./- -/- chr1:25267740 chr1:25247029 intergenic 5'UTR/splice-site deletion/read-through 2 2 0 13 86 medium . . |Arginine/Serine-Rich_protein_1(100%) . . . ENSG00000117616.18 . ENST00000243189.12 upstream downstream . GTTCACAGCTGGACGTCGGGAGTGCTAGTTTGGAGTACGCCATTTGAGAGTAGGCGTGAGAAGTTGCTCTGTGTGCTGAGCGTTCTAAAGGAAGcCGTCCGTTGGCCTTCGTACCCGTCTTGATTGAG|GAAGTCCTGAGTTGAGGCTTGCGGGATCCTTTCCGGAGAAAGCGCAGGCTAAAGCCGCAGGTGAAGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCCGCAGGAGAAGGATTCGCCCTCGACCTCGCGGTCGGGCGGGgCCAGCCGG(CTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATTCCCGCGTCTCGAGCCGGTTTTCGTCCAGGAGTCGGAGGAGCAAGTCCAGGTCCCGTTCCCGAAGGCGCCACCAGCGGAAGTACAGGCGCTACTCGCGGTCATACTCGCGGAGCCGGTCGCGATCCCGCAGCCGCCGTTACCGAGAGAGGCGCTACGGGTTCACCAGGAGATACTACCGGTCTCCTTCGCGGTACCGGTCCCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTGTACCCGGAGGAGCACAGCAGATGGAGGGACAGATCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAG___ATCGAATGGAGCTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAGGAACAACCAACATTGACTTGCCAGCTAGTCTCAGAACTGTTCCTTCAGCCAAAGAAACAAGCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAA___CTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATGAAAAACCTACCCAGCAAAGAAGCATAGCTTTTAGCTCTAAT___AATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCAAGATCACCAAAAATAGATCAGAAAAAAAGTCCATATGGACTGTGGATACCTATCTAAAAGAAGAAAACTGATGGCTAAGTTTGCATGAAAACTGCACTTTATTGCAAGTTAGTGTTTCTAGCATTATCCCATCCCTTTGAGCCATTCAGGGGTACTTGTGCATTTAAAAACCAACACAAAAAGATGTAAATACTTAACACTCAAATATTAACATTTTAGGTTTCTCTTGCAGATATGAGAGATAGCACAGATGGACCAAAGGTTATGCACAGGTGGGAGTCTTTTGTATATAGTTGTAAATATTGTCTTGGTTATGTAAAAATGAAATTTTTTAGACACAGTAATTGAACTGTATTCCTGTTTTGTATATTTAATAAATTTCTTGTTTTCATTCTTA)$ . 05BR016 ENSG00000120262.10(35570),ENSG00000091831.23(33733) ENSG00000091831.23 ./+ +/+ chr6:151656763 chr6:151701875 intergenic 5'UTR/splice-site deletion/read-through 14 33 0 64 80 high . . |Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Oestrogen-type_nuclear_receptor_final_C-terminal_(100%),Oestrogen_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%) . . . ENSG00000091831.23 . ENST00000440973.5 downstream upstream duplicates(2),low_entropy(2) ATTTGATTAATAGATTTTATTTTGGTAGATTCTAAGGTTCCAAGCAGTCAGAGAAATAATCGCAGAGCCTCAAATATCTCCAAAATCTGATACCAATCCTTTTGATTGTGAATTATATTCTGTAGCTACCAAAGAAG|GAAGAAGAAAACTAGGAAGGAGTAAGCACAAAGATCTCTTCACATTCTCCGGGACTGCGGTACCAAATATCAGCACAGCACTTCTTGAAAAAGGATGTAGATTTTAATCTGAACTTTGAACCATCACTGAG___GTGGCCCGCCGGTTTCTGAGCCTTCTGCCCTGCGGGGACACGGTCTGCACCCTGCCCGCGGCCACGGACCATGACCATGACCCTCCACACCAAAGCATCcGG(GATGGCCCTACTGCATCAGATCCAAGGGAACGAGCTGGAGCCCCTGAACCGTCCGCAGCTCAAGATCCCCCTGGAGCGGCCCCTGGGCGAGGTGTACCTGGACAGCAGCAAGCCCGCCGTGTACAACTACCCCGAGGGCGCCGCCTACGAGTTCAACGCCGCGGCCGCCGCCAACGCGCAGGTCTACGGTCAGACCGGCCTCCCCTACGGCCCCGGGTCTGAGGCTGCGGCGTTCGGCTCCAACGGCCTGGGGGGTTTCCCCCCACTCAACAGCGTGTCTCCGAGCCCGCTGATGCTACTGCACCCGCCGCCGCAGCTGTCGCCTTTCCTGCAGCCCCACGGCCAGCAGGTGCCCTACTACCTGGAGAACGAGCCCAGCGGCTACACGGTGCGCGAGGCCGGCCCGCCGGCATTCTACAG___GCCAAATTCAGATAATCGACGCCAGGGTGGCAGAGAAAGATTGGCCAGTACCAATGACAAGGGAAGTATGGCTATGGAATCTGCCAAGGAGACTCGCTACTGTGCAGTGTGCAATGACTATGCTTCAGGCTACCATTATGGAGTCTGGTCCTGTGAGGGCTGCAAGGCCTTCTTCAAGAGAAGTATTCAAG___GACATAACGACTATATGTGTCCAGCCACCAACCAGTGCACCATTGATAAAAACAGGAGGAAGAGCTGCCAGGCCTGCCGGCTCCGTAAATGCTACGAAGTGGGAATGATGAAAGGTG___GGATACGAAAAGACCGAAGAGGAGGGAGAATGTTGAAACACAAGCGCCAGAGAGATGATGGGGAGGGCAGGGGTGAAGTGGGGTCTGCTGGAGACATGAGAGCTGCCAACCTTTGGCCAAGCCCGCTCATGATCAAACGCTCTAAGAAGAACAGCCTGGCCTTGTCCCTGACGGCCGACCAGATGGTCAGTGCCTTGTTGGATGCTGAGCCCCCGATACTCTATTCCGAGTATGATCCTACCAGACCCTTCAGTGAAGCTTCGATGATGGGCTTACTGACCAACCTGGCAGACAGGGAGCTGGTTCACATGATCAACTGGGCGAAGAGGGTGCCAG___GCTTTGTGGATTTGACCCTCCATGATCAGGTCCACCTTCTAGAATGTGCCTGGCTAGAGATCCTGATGATTGGTCTCGTCTGGCGCTCCATGGAGCACCCAGGGAAGCTACTGTTTGCTCCTAACTTGCTCTTGGACAG___GAACCAGGGAAAATGTGTAGAGGGCATGGTGGAGATCTTCGACATGCTGCTGGCTACATCATCTCGGTTCCGCATGATGAATCTGCAGGGAGAGGAGTTTGTGTGCCTCAAATCTATTATTTTGCTTAATTCTG___GAGTGTACACATTTCTGTCCAGCACCCTGAAGTCTCTGGAAGAGAAGGACCATATCCACCGAGTCCTGGACAAGATCACAGACACTTTGATCCACCTGATGGCCAAGGCAGGCCTGACCCTGCAGCAGCAGCACCAGCGGCTGGCCCAGCTCCTCCTCATCCTCTCCCACATCAGGCACATGAG___TAACAAAGGCATGGAGCATCTGTACAGCATGAAGTGCAAGAACGTGGTGCCCCTCTATGACCTGCTGCTGGAGATGCTGGACGCCCACCGCCTACATGCGCCCACTAGCCGTGGAGGGGCATCCGTGGAGGAGACGGACCAAAGCCACTTGGCCACTGCGGGCTCTACTTCATCGCATTCCTTGCAAAAGTATTACATCACGGGGGAGGCAGAGGGTTTCCCTGCCACGGTCTGAGAGCTCCCTGGCTCCCACACGGTTCAGATAATCCCTGCTGCATTTTACCCTCATCATGCACCACTTTAGCCAAATTCTGTCTCCTGCATACACTCCGGCATGCATCCAACACCAATGGCTTTCTAGATGAGTGGCCATTCATTTGCTTGCTCAGTTCTTAGTGGCACATCTTCTGTCTTCTGTTGGGAACAGCCAAAGGGATTCCAAGGCTAAATCTTTGTAACAGCTCTCTTTCCCCCTTGCTATGTTACTAAGCGTGAGGATTCCCGTAGCTCTTCACAGCTGAACTCAGTCTATGGGTTGGGGCTCAGATAACTCTGTGCATTTAAGCTACTTGTAGAGACCCAGGCCTGGAGAGTAGACATTTTGCCTCTGATAAGCACTTTTTAAATGGCTCTAAGAATAAGCCACAGCAAAGAATTTAAAGTGGCTCCTTTAATTGGTGACTTGGAGAAAGCTAGGTCAAGGGTTTATTATAGCACCCTCTTGTATTCCTATGGCAATGCATCCTTTTATGAAAGTGGTACACCTTAAAGCTTTTATATGACTGTAGCAGAGTATCTGGTGATTGTCAATTCATTCCCCCTATAGGAATACAAGGGGCACACAGGGAAGGCAGATCCCCTAGTTGGCAAGACTATTTTAACTTGATACACTGCAGATTCAGATGTGCTGAAAGCTCTGCCTCTGGCTTTCCGGTCATGGGTTCCAGTTAATTCATGCCTCCCATGGACCTATGGAGAGCAGCAAGTTGATCTTAGTTAAGTCTCCCTATATGAGGGATAAGTTCCTGATTTTTGTTTTTATTTTTGTGTTACAAAAGAAAGCCCTCCCTCCCTGAACTTGCAGTAAGGTCAGCTTCAGGACCTGTTCCAGTGGGCACTGTACTTGGATCTTCCCGGCGTGTGTGTGCCTTACACAGGGGTGAACTGTTCACTGTGGTGATGCATGATGAGGGTAAATGGTAGTTGAAAGGAGCAGGGGCCCTGGTGTTGCATTTAGCCCTGGGGCATGGAGCTGAACAGTACTTGTGCAGGATTGTTGTGGCTACTAGAGAACAAGAGGGAAAGTAGGGCAGAAACTGGATACAGTTCTGAGGCACAGCCAGACTTGCTCAGGGTGGCCCTGCCACAGGCTGCAGCTACCTAGGAACATTCCTTGCAGACCCCGCATTGCCCTTTGGGGGTGCCCTGGGATCCCTGGGGTAGTCCAGCTCTTCTTCATTTCCCAGCGTGGCCCTGGTTGGAAGAAGCAGCTGTCACAGCTGCTGTAGACAGCTGTGTTCCTACAATTGGCCCAGCACCCTGGGGCACGGGAGAAGGGTGGGGACCGTTGCTGTCACTACTCAGGCTGACTGGGGCCTGGTCAGATTACGTATGCCCTTGGTGGTTTAGAGATAATCCAAAATCAGGGTTTGGTTTGGGGAAGAAAATCCTCCCCCTTCCTCCCCCGCCCCGTTCCCTACCGCCTCCACTCCTGCCAGCTCATTTCCTTCAATTTCCTTTGACCTATAGGCTAAAAAAGAAAGGCTCATTCCAGCCACAGGGCAGCCTTCCCTGGGCCTTTGCTTCTCTAGCACAATTATGGGTTACTTCCTTTTTCTTAACAAAAAAGAATGTTTGATTTCCTCTGGGTGACCTTATTGTCTGTAATTGAAACCCTATTGAGAGGTGATGTCTGTGTTAGCCAATGACCCAGGTGAGCTGCTCGGGCTTCTCTTGGTATGTCTTGTTTGGAAAAGTGGATTTCATTCATTTCTGATTGTCCAGTTAAGTGATCACCAAAGGACTGAGAATCTGGGAGGGCAAAAAAAAAAAAAAAGTTTTTATGTGCACTTAAATTTGGGGACAATTTTATGTATCTGTGTTAAGGATATGTTTAAGAACATAATTCTTTTGTTGCTGTTTGTTTAAGAAGCACCTTAGTTTGTTTAAGAAGCACCTTATATAGTATAATATATATTTTTTTGAAATTACATTGCTTGTTTATCAGACAATTGAATGTAGTAATTCTGTTCTGGATTTAATTTGACTGGGTTAACATGCAAAAACCAAGGAAAAATATTTAGTTTTTTTTTTTTTTTTTGTATACTTTTCAAGCTACCTTGTCATGTATACAGTCATTTATGCCTAAAGCCTGGTGATTATTCATTTAAATGAAGATCACATTTCATATCAACTTTTGTATCCACAGTAGACAAAATAGCACTAATCCAGATGCCTATTGTTGGATACTGAATGACAGACAATCTTATGTAGCAAAGATTATGCCTGAAAAGGAAAATTATTCAGGGCAGCTAATTTTGCTTTTACCAAAATATCAGTAGTAATATTTTTGGACAGTAGCTAATGGGTCAGTGGGTTCTTTTTAATGTTTATACTTAGATTTTCTTTTAAAAAAATTAAAATAAAACAAAAAAAAATTTCTAGGACTAGACGATGTAATACCAGCTAAAGCCAAACAATTATACAGTGGAAGGTTTTACATTATTCATCCAATGTGTTTCTATTCATGTTAAGATACTACTACATTTGAAGTGGGCAGAGAACATCAGATGATTGAAATGTTCGCCCAGGGGTCTCCAGCAACTTTGGAAATCTCTTTGTATTTTTACTTGAAGTGCCACTAATGGACAGCAGATATTTTCTGGCTGATGTTGGTATTGGGTGTAGGAACATGATTTAAAAAAAAACTCTTGCCTCTGCTTTCCCCCACTCTGAGGCAAGTTAAAATGTAAAAGATGTGATTTATCTGGGGGGCTCAGGTATGGTGGGGAAGTGGATTCAGGAATCTGGGGAATGGCAAATATATTAAGAAGAGTATTGAAAGTATTTGGAGGAAAATGGTTAATTCTGGGTGTGCACCAGGGTTCAGTAGAGTCCACTTCTGCCCTGGAGACCACAAATCAACTAGCTCCATTTACAGCCATTTCTAAAATGGCAGCTTCAGTTCTAGAGAAGAAAGAACAACATCAGCAGTAAAGTCCATGGAATAGCTAGTGGTCTGTGTTTCTTTTCGCCATTGCCTAGCTTGCCGTAATGATTCTATAATGCCATCATGCAGCAATTATGAGAGGCTAGGTCATCCAAAGAGAAGACCCTATCAATGTAGGTTGCAAAATCTAACCCCTAAGGAAGTGCAGTCTTTGATTTGATTTCCCTAGTAACCTTGCAGATATGTTTAACCAAGCCATAGCCCATGCCTTTTGAGGGCTGAACAAATAAGGGACTTACTGATAATTTACTTTTGATCACATTAAGGTGTTCTCACCTTGAAATCTTATACACTGAAATGGCCATTGATTTAGGCCACTGGCTTAGAGTACTCCTTCCCCTGCATGACACTGATTACAAATACTTTCCTATTCATACTTTCCAATTATGAGATGGACTGTGGGTACTGGGAGTGATCACTAACACCATAGTAATGTCTAATATTCACAGGCAGATCTGCTTGGGGAAGCTAGTTATGTGAAAGGCAAATAGAGTCATACAGTAGCTCAAAAGGCAACCATAATTCTCTTTGGTGCAGGTCTTGGGAGCGTGATCTAGATTACACTGCACCATTCCCAAGTTAATCCCCTGAAAACTTACTCTCAACTGGAGCAAATGAACTTTGGTCCCAAATATCCATCTTTTCAGTAGCGTTAATTATGCTCTGTTTCCAACTGCATTTCCTTTCCAATTGAATTAAAGTGTGGCCTCGTTTTTAGTCATTTAAAATTGTTTTCTAAGTAATTGCTGCCTCTATTATGGCACTTCAATTTTGCACTGTCTTTTGAGATTCAAGAAAAATTTCTATTCTTTTTTTTGCATCCAATTGTGCCTGAACTTTTAAAATATGTAAATGCTGCCATGTTCCAAACCCATCGTCAGTGTGTGTGTTTAGAGCTGTGCACCCTAGAAACAACATATTGTCCCATGAGCAGGTGCCTGAGACACAGACCCCTTTGCATTCACAGAGAGGTCATTGGTTATAGAGACTTGAATTAATAAGTGACATTATGCCAGTTTCTGTTCTCTCACAGGTGATAAACAATGCTTTTTGTGCACTACATACTCTTCAGTGTAGAGCTCTTGTTTTATGGGAAAAGGCTCAAATGCCAAATTGTGTTTGATGGATTAATATGCCCTTTTGCCGATGCATACTATTACTGATGTGACTCGGTTTTGTCGCAGCTTTGCTTTGTTTAATGAAACACACTTGTAAACCTCTTTTGCACTTTGAAAAAGAATCCAGCGGGATGCTCGAGCACCTGTAAACAATTTTCTCAACCTATTTGATGTTCAAATAAAGAATTAAACTAAA)$ . 05BR016 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 10 25 0 68 47 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATG)GGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05BR016 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 2 2 0 62 11 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream duplicates(1) ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACAT)CTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG(___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 05BR016 ENSG00000080608.10 ENSG00000092529.25 -/- +/+ chr9:2828693 chr15:42412088 CDS CDS/splice-site translocation 0 2 0 54 11 medium in-frame . . . . ENSG00000080608.10 ENSG00000092529.25 ENST00000397885.3 ENST00000561817.5 upstream upstream . ^(GGAGAGGCGGTCGGGATCCGCTGCGCGAGCTGTCTCGGTCCCACGTGTGCG___AGTTGCTACGATGGAAGTTAAAGGGAAAAAGCAATTCACAGGAAAGAGTACAAAGACAGCACAAGAAAAAAACAGATTTCATAAAAATAGTG___ATTCTGGTTCTTCAAAGACATTTCCAACAAGGAAAGTTGCTAAAGAAGGTGGACCTAAAGTCACATCTAGGAACTTTGAGAAAAGTATCACAAAACTTGGGAAAAAGGGTGTAAAGCAGTTCAAGAATAAGCAGCAAGGGGACAAATCACCAAAGAACAAATTCCAGCCGGCAAATAAATTCAACAAGAAGAGAAAATTCCAGCCAGATGGTAGAAGCGATG___AATCAGCAGCCAAGAAGCCCAAATGGGATGACTTCAAAAAGAAGAAGAAAGAACTGAAGCAAAGCAGACAACTCAGTGATAAAACCAACTATGACATTGTTGTTCGGGCAAAGCAGATGTGGGAGATTTTAAGAAG___AAAAGACTGTGACAAAGAAAAAAGAGTAAAGTTAATGAGTGATTTGCAGAAGTTGATTCAAGGGAAAATTAAAACT___ATTGCATTTGCACACGATTCAACTCGTGTGATCCAGTGTTACATTCAGTATGGTAATGAAGAACAGAGAAAACAGGCTTTTGAAGAATTGCGAG___ATGATTTGGTTGAGTTAAGTAAAGCCAAATATTCGAGAAATATTGTTAAGAAATTTCTCATGTATGG___AAGTAAACCACAGATTGCAGAGATAATCAGAAGTTTTAAAGGCCACGTGAGGAAGATGCTGCGGCATGCGGAAGCATCAGCCATCGTGGAGTACGCATACAATGACAAAGCCATTTTGGAGCAGAGGAACATGCTGACGGAAGAGCTCTATG)GGAACACATTTCAGCTTTACAAG___TCAGCAGATCACCGAACTCTGGACAAAGTGTTAGAGGTACAGCCAGAAAAATTAGAACTTATTATGGATGAAATGAAACAGATTCT|TGTCTGCAGAAGCACCTGCCGGTGGCACTCAGCACCTCCTTGTGCTAGAGCCCTCCATCACCTTCACGCTGTCCCACCATGGGCCAGGAACCAAACCAGCACTGGGTTCTACTGCTGTGGGGTAAACTAACTCAGTGGAATAGGGCTGGTTACTTTGGGC(TGTCCAACTCATAAGTTTGGCTGCATTTTGAAAAAAGCTGATCTAAATAAAGGCATGTGTATGGCTGGTC)$ MEVKGKKQFTGKSTKTAQEKNRFHKNSDSGSSKTFPTRKVAKEGGPKVTSRNFEKSITKLGKKGVKQFKNKQQGDKSPKNKFQPANKFNKKRKFQPDGRSDESAAKKPKWDDFKKKKKELKQSRQLSDKTNYDIVVRAKQMWEILRRKDCDKEKRVKLMSDLQKLIQGKIKTIAFAHDSTRVIQCYIQYGNEEQRKQAFEELRDDLVELSKAKYSRNIVKKFLMYGSKPQIAEIIRSFKGHVRKMLRHAEASAIVEYAYNDKAILEQRNMLTEELYGNTFQLYKSADHRTLDKVLEVQPEKLELIMDEMKQIl|VCRSTCRWHSAPPCARALHHLHAVPPWARNQTSTGFYCCGVN* 05BR026 ENSG00000186635.14 ENSG00000131748.16 -/- +/+ chr11:72732515 chr17:39662804 5'UTR/splice-site CDS/splice-site translocation 43 76 2 311 270 high . . |START_domain(100%) . . ENSG00000186635.14 ENSG00000131748.16 ENST00000393609.7 ENST00000336308.10 upstream upstream duplicates(5),mismatches(1) ^AATTTGGCGGTGGtGGTGTAAGTCGGTGGCGGCGCCGGTACGCCTGGTCCCCGCGTGGAGTCTTTACTCAAAACAG___CTCCCGCCTCAGGCCGAGATGAGGAGCCCTTCAGAATAGCTGCTGTCTCTGGGAGGACCCGGGCGTCCTTGGCAGCCCAGCTG|GGCCGCCTGCCCCGGTACCTCATCCACCAGAGCCTCGCGGCCACCATGTTTGAATTTGCCTTTCACCTGCGACAGCGCATCAGCGAGCTGGGGGCCCGGGCGTGACTGTGCCCCCTCCCACCCTGCGGGCCAGGGTCCTGTCGCCACCACTTCCAGAGCCAGAAAGGGTGCCAGTTGGGCTCGCACTGCCCACATGGGACCTGGCCCCAGGCTGTCACCCTCCACCGAGCCACGCAGTGCCTGGAGTTGACTGACTGAGCAGGCTGTGGGG(TGGAGCACTGGACTCCGGGGCCCCACTGGCTGGAGGAAGTGGGGTCTGGCCTGTTGATGTTTACATGGCGCCCTGCCTCCTGGAGGACCAGATTGCTCTGCCCCACCTTGCCAGGGCAGGGTCTGGGCTGGGCACCTGACTTGGCTGGGGAGGACCAGGGCCCTGGGCAGGGCAGGGCAGCCTGTCACCCGTGTGAAGATGAAGGGGCTCTTCATCTGCCTGCGCTCTCGTCGGTTTTTTTAGGATTATTGAAAGAGTCTGGGACCCTTGTTGGGGAGTGGGTGGCAGGTGGGGGTGGGCTGCTGGCCATGAATCTCTGCCTCTCCCAGGCTGTCCCCCTCCTCCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCGCCCACCCCCCACTCCCCGCTTTCCTGACCAGTTCAACTGAGCAGATGACTGGTCAGAAAAAAATGCCCCGCCCCCTGCCAGGCTTCAGCGGGGCAAGTTTAAAGTCTCTAGTCCAGGAATGGAGGTGGGGGTATGGGCACCTGGCAGTGCCCACAGCAAGCCTTGACTGTGTGGCCTGGAGATGGGGCCTGAGCTTCAGGGTCACTGAGGCACCTCTGGGATCCAGGCCACCTGGAGCCCCGGACCTCCCAGACTCCACTCACCCATTCCCTCTCCCCGCACGGCACTCACACCAGGGGCGGCCTGGAGCCCGGATCGCAGGGCGGGGCCAGGCCACTGCCTGCCTTCCTCCTCCCTCCCGGCTGGCCTGCCCCCTTGCCTGCCTGCATGCAGGCTTCCAGCAGAGCCAGCTTCTTCAGAGCCAGGTGGATCCTGTTTCGGTCCTGCCTAGGTGTGTGACCCTGGGCGAATCTACCTCTCTCAGCTTCTGCTTCCCACTTTATGAAAATGGGACTGATGTCACAGGGTTGTTATGAGATTAAAAGATATGAAGAACCGGG)$ . 05BR026 ENSG00000186635.14 ENSG00000173991.6 -/- +/+ chr11:72732515 chr17:39665716 5'UTR/splice-site CDS/splice-site translocation 69 41 0 311 197 high . . . . . ENSG00000186635.14 ENSG00000173991.6 ENST00000393609.7 ENST00000309889.3 upstream upstream duplicates(11),mismatches(1) ^AATTTGGCGGTGGtGGTGTAAGTCGGTGGCGGCGCCGGTACGCCTGGTCCCCGCGTGGAGTCTTTACTCAAAACAG___CTCCCGCCTCAGGCCGAGATGAGGAGCCCTTCAGAATAGCTGCTGTCTCTGGGAGGACCCGGGCGTCCTTGGCAGCCCAGCTG|CTGCTCCCTGCATGAGGAGGACACCCAGAGACATGAGACCTACCACCAGCAGGGGCAGTGCCAGGTGCTGGTGCAGCGCTCGCCCTGGCTGATGATGCGGATGGGCATCCTCGGCCGTGGGCTGCAGGAGTACCAGCTGCCCTACCAGCGGGTACTGCCGCTGCCCATCTTCACCCCTGCCAAGATGGGCGCCACCAAGGAGGAGCGTGAGGACACCCCCAT(CCAGCTTCAGGAGCTGCTGGCGCTGGAGACAGCCCTGGGTGGCCAGTGTGTGGACCGCCAGGAGGTGGCTGAGATCACAAAGCAGCTGCCCCCTGTGGTGCCTGTCAGCAAGCCCGGTGCACTTCGTCGCTCCCTGTCCCGCTCCATGTCCCAGGAAGCACAGAGAGGCTGAGAGGGACTGTGACTTGGGCTCCGCTGTGCCCGCCCTGGGCTGGGCCCTTCCTGGCTAGGACTGTGGAGGGGAGCTGCTGGCCATGGCTGCTTTGTAGTTTGCCCAGAGTTGGGGGCTAGGGGAGGGGGGAGCCAGAGGCCAGGATGCCTGAGCCCCCTGAGTTCCCAAAGGGAGGGTGGCAGAGACAGTGGGCACTAAGGGTGGAGAGTTGGGGGCCAGCACAGCTGAGGACCCTCAGCCCCAGGAGAAGGGACAAAAGGTACTGGTGAGGGCAAGAGGTGCCTGGGAGGAGTGGCCCTGATCCAGGAAAATGTGAGGGGAATCTGGAACGCTCTAGGCAGAAGAAGCTGGGAGGGAGGGGGAGGTGAAAAGGGCAGAGGCAAGGATGGTGGGGCCCCCAGCACCCTCTGTTAGTGCCGCAATAAATGCTCAATCATGTGCCAGA)$ . 05BR026 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 7 0 145 64 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAAT)GGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGAT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05BR026 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 19 0 28 84 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),mismappers(2) CGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCC(TGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05BR026 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 7 11 0 48 27 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTG)GGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05BR026 ENSG00000198382.9 ENSG00000159063.13 +/+ -/- chr11:75888903 chr11:78114392 CDS/splice-site CDS/splice-site inversion 6 8 0 215 1139 high in-frame . |ALG6__ALG8_glycosyltransferase_family(100%) . . ENSG00000198382.9 ENSG00000159063.13 ENST00000356136.8 ENST00000299626.10 downstream downstream . ^(GGTAATATGGCTCTTCCTTAGCCAGCGGCGGCAACGGCGGCAGCGGCGGCAGCGGCGGCGGCTACTGTCTGGGCTGAGCAGTAGTGCCTCTCGGGTGGCGGGTTTCTAGGCTGCAGGGGCTTGGTAGGTGGTGGCAAGGGGGCGGCGGCGGATGCCGGAAGAGTGCCCGCCCCGCCGCTTGGCGGCCCCTGGATCGAGATGAGCGCCTCCGCGTCGGTCGGGGGCCCCGTCCCCCAGCCACCCCCGGGCCCGGCCGCTGCTCTGCCTCCCGGTTCTGCCGCGCGGGCCCTGCATGTGGAGCTGCCGTCTCAGCAG___CGGCGTCTTCGACATCTTCGGAACATTGCTGCCCGGAACATTGTTAATAGAAATGGCCATCAGCTCCTTGATACCTACTTTACACTTCACTTGTGTAGTACTGAAAAGATATATAAAG___AATTTTATAGAAGTGAAGTGATTAAGAATTCCTTG___AATCCCACGTGGCGAAGTCTCGATTTTGGAATTATGCCAGACCGTCTTGATA)CATCTGTGTCTTGTTTCGTGGTGAAGATATGGGGTGGAAAGGAGAACATCTACCAGCTGTTGATTGAATGGAAAGTCTGTTTGGATGGGCTGAAATACTTGGGTCAGCAG___ATTCATGCCCGAAACCAAAATGAAATAATTTTTGGGCTGAATGATGGATACTATGGTGCTCCATTTGAACATAAG|AAAAGGCATATGGAAGGAGCATTTCTCTTTGCTGTTCTCCTACATTTCAAGCATATCTACCTCTATGTAGCACCAGCTTATGGTGTATATCTGCTGCGATCCTACTGTTTCACTGCAAATAAACCAG___ATGGGTCTATTCGATGGAAGAGTTTCAGCTTTGTTCGTGTTATTTCCCTGGGACTGGTTGTTTTCTTAGTTTCTGCTCTTTCATTGGGTCCTTTCCTGGCCTTG___AATCAGCTGCCTCAAGTCTTTTCCCG(ACTCTTTCCTTTCAAGAGGGGCCTCTGTCATGCATATTGGGCTCCAAACTTCTGGGCTTTGTACAATGCTTTGGACAAAGTGCTGTCTGTCATCG___GTTTGAAATTGAAATTTCTTGATCCCAACAATATTCCCAAGGCCTCAATGACAAGTGGTTTGGTTCAGCAGTTCCAACACACAGTCCTTCCCTCAGTGACTCCCTTGGCAACCCTCATCTGCACACTGATTGCCATATTG___CCCTCTATTTTCTGTCTTTGGTTTAAACCCCAAGGGCCCAGAGGCTTTCTCCGATGTCTAACTCTTTGTGCCTTGAGCTCCTTTATGTTTGGGTGGCATGTTCATGAAAAAGCCATACTTCTAGCAATTCTCCCAATGAG___CCTTTTGTCTGTGGGAAAAGCAGGAGACGCTTCGATTTTTCTGATTCTGACCACAACAGGACATTATTCCCTCTTTCCTCTGCTCTTCACTGCACCAG___AACTTCCCATTAAAATCTTACTCATGTTACTATTCACCATATATAGTATTTCGTCACTGAAGACTTTATTCAG___AAAAGAAAAACCTCTTTTTAATTGGATGGAAACTTTCTACCTGCTTGGCCTGGGGCCTCTGGAAGTCTGCTGTGAATTTGTATTCCCTTTCACCTCCTGGAAGGTGAAGTACCCCTTCATCCCTTTGTTACTAACCTCAGTGTATTGTGCAGTAGGCATCACATATGCTTGGTTCAAACTGTATGTTTCAGTATTGATTGACTCTGCTATTGGCAAGACAAAGAAACAATGAATAAAGGAACTGCTTAGA)$ MSASASVGGPVPQPPPGPAAALPPGSAARALHVELPSQQRRLRHLRNIAARNIVNRNGHQLLDTYFTLHLCSTEKIYKEFYRSEVIKNSLNPTWRSLDFGIMPDRLDTSVSCFVVKIWGGKENIYQLLIEWKVCLDGLKYLGQQIHARNQNEIIFGLNDGYYGAPFEHK|KRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYCFTANKPDGSIRWKSFSFVRVISLGLVVFLVSALSLGPFLALNQLPQVFSRLFPFKRGLCHAYWAPNFWALYNALDKVLSVIGLKLKFLDPNNIPKASMTSGLVQQFQHTVLPSVTPLATLICTLIAILPSIFCLWFKPQGPRGFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFLILTTTGHYSLFPLLFTAPELPIKILLMLLFTIYSISSLKTLFRKEKPLFNWMETFYLLGLGPLEVCCEFVFPFTSWKVKYPFIPLLLTSVYCAVGITYAWFKLYVSVLIDSAIGKTKKQ* 05BR026 ENSG00000198382.9 ENSG00000159063.13 +/+ -/- chr11:75888903 chr11:78109581 CDS/splice-site CDS/splice-site inversion 3 1 0 215 1502 medium out-of-frame . |ALG6__ALG8_glycosyltransferase_family(100%) . . ENSG00000198382.9 ENSG00000159063.13 ENST00000356136.8 ENST00000299626.10 downstream downstream . ^(GGTAATATGGCTCTTCCTTAGCCAGCGGCGGCAACGGCGGCAGCGGCGGCAGCGGCGGCGGCTACTGTCTGGGCTGAGCAGTAGTGCCTCTCGGGTGGCGGGTTTCTAGGCTGCAGGGGCTTGGTAGGTGGTGGCAAGGGGGCGGCGGCGGATGCCGGAAGAGTGCCCGCCCCGCCGCTTGGCGGCCCCTGGATCGAGATGAGCGCCTCCGCGTCGGTCGGGGGCCCCGTCCCCCAGCCACCCCCGGGCCCGGCCGCTGCTCTGCCTCCCGGTTCTGCCGCGCGGGCCCTGCATGTGGAGCTGCCGTCTCAGCAG___CGGCGTCTTCGACATCTTCGGAACATTGCTGCCCGGAACATTGTTAATAGAAATGGCCATCAGCTCCTTGATACCTACTTTACACTTCACTTGTGTAGTACTGAAAAGATATATAAAG___AATTTTATAGAAGTGAAGTGATTAAGAATTCCTTG___AATCCCACGTGGCGAAGTCTCGATTTTGGAATTATGCCAGACCGTCTTGATACATCTGTGTCTTGTTTC)GTGGTGAAGATATGGGGTGGAAAGGAGAACATCTACCAGCTGTTGATTGAATGGAAAGTCTGTTTGGATGGGCTGAAATACTTGGGTCAGCAG___ATTCATGCCCGAAACCAAAATGAAATAATTTTTGGGCTGAATGATGGATACTATGGTGCTCCATTTGAACATAAG|GTTTGAAATTGAAATTTCTTGATCCCAACAATATTCCCAAGGCCTCAATGACAAGTGGTTTGGTTCAGCAGTTCCAACACACAGTCCTTCCCTCAGTGACTCCCTTGGCAACCCTCATCTGCACACTGATTGCCATATTG(___CCCTCTATTTTCTGTCTTTGGTTTAAACCCCAAGGGCCCAGAGGCTTTCTCCGATGTCTAACTCTTTGTGCCTTGAGCTCCTTTATGTTTGGGTGGCATGTTCATGAAAAAGCCATACTTCTAGCAATTCTCCCAATGAG___CCTTTTGTCTGTGGGAAAAGCAGGAGACGCTTCGATTTTTCTGATTCTGACCACAACAGGACATTATTCCCTCTTTCCTCTGCTCTTCACTGCACCAG___AACTTCCCATTAAAATCTTACTCATGTTACTATTCACCATATATAGTATTTCGTCACTGAAGACTTTATTCAG___AAAAGAAAAACCTCTTTTTAATTGGATGGAAACTTTCTACCTGCTTGGCCTGGGGCCTCTGGAAGTCTGCTGTGAATTTGTATTCCCTTTCACCTCCTGGAAGGTGAAGTACCCCTTCATCCCTTTGTTACTAACCTCAGTGTATTGTGCAGTAGGCATCACATATGCTTGGTTCAAACTGTATGTTTCAGTATTGATTGACTCTGCTATTGGCAAGACAAAGAAACAATGAATAAAGGAACTGCTTAGA)$ MSASASVGGPVPQPPPGPAAALPPGSAARALHVELPSQQRRLRHLRNIAARNIVNRNGHQLLDTYFTLHLCSTEKIYKEFYRSEVIKNSLNPTWRSLDFGIMPDRLDTSVSCFVVKIWGGKENIYQLLIEWKVCLDGLKYLGQQIHARNQNEIIFGLNDGYYGAPFEHK|v* 05BR026 ENSG00000198382.9 ENSG00000159063.13 +/+ -/- chr11:75888903 chr11:78106946 CDS/splice-site CDS/splice-site inversion 1 1 0 215 1472 medium in-frame . |ALG6__ALG8_glycosyltransferase_family(100%) . . ENSG00000198382.9 ENSG00000159063.13 ENST00000356136.8 ENST00000299626.10 downstream downstream . ^(GGTAATATGGCTCTTCCTTAGCCAGCGGCGGCAACGGCGGCAGCGGCGGCAGCGGCGGCGGCTACTGTCTGGGCTGAGCAGTAGTGCCTCTCGGGTGGCGGGTTTCTAGGCTGCAGGGGCTTGGTAGGTGGTGGCAAGGGGGCGGCGGCGGATGCCGGAAGAGTGCCCGCCCCGCCGCTTGGCGGCCCCTGGATCGAGATGAGCGCCTCCGCGTCGGTCGGGGGCCCCGTCCCCCAGCCACCCCCGGGCCCGGCCGCTGCTCTGCCTCCCGGTTCTGCCGCGCGGGCCCTGCATGTGGAGCTGCCGTCTCAGCAG___CGGCGTCTTCGACATCTTCGGAACATTGCTGCCCGGAACATTGTTAATAGAAATGGCCATCAGCTCCTTGATACCTACTTTACACTTCACTTGTGTAGTACTGAAAAGATATATAAAG___AATTTTATAGAAGTGAAGTGATTAAGAATTCCTTG___AATCCCACGTGGCGAAGTCTCGATTTTGGAATTATGCCAGACCGTCTTGATACATCTGTGTCTTGTTTCGTGGTGAAGATATGG)GGTGGAAAGGAGAACATCTACCAGCTGTTGATTGAATGGAAAGTCTGTTTGGATGGGCTGAAATACTTGGGTCAGCAG___ATTCATGCCCGAAACCAAAATGAAATAATTTTTGGGCTGAATGATGGATACTATGGTGCTCCATTTGAACATAAG|CCCTCTATTTTCTGTCTTTGGTTTAAACCCCAAGGGCCCAGAGGCTTTCTCCGATGTCTAACTCTTTGTGCCTTGAGCTCCTTTATGTTTGGGTGGCATGTTCATGAAAAAGCCATACTTCTAGC(AATTCTCCCAATGAG___CCTTTTGTCTGTGGGAAAAGCAGGAGACGCTTCGATTTTTCTGATTCTGACCACAACAGGACATTATTCCCTCTTTCCTCTGCTCTTCACTGCACCAG___AACTTCCCATTAAAATCTTACTCATGTTACTATTCACCATATATAGTATTTCGTCACTGAAGACTTTATTCAG___AAAAGAAAAACCTCTTTTTAATTGGATGGAAACTTTCTACCTGCTTGGCCTGGGGCCTCTGGAAGTCTGCTGTGAATTTGTATTCCCTTTCACCTCCTGGAAGGTGAAGTACCCCTTCATCCCTTTGTTACTAACCTCAGTGTATTGTGCAGTAGGCATCACATATGCTTGGTTCAAACTGTATGTTTCAGTATTGATTGACTCTGCTATTGGCAAGACAAAGAAACAATGAATAAAGGAACTGCTTAGA)$ MSASASVGGPVPQPPPGPAAALPPGSAARALHVELPSQQRRLRHLRNIAARNIVNRNGHQLLDTYFTLHLCSTEKIYKEFYRSEVIKNSLNPTWRSLDFGIMPDRLDTSVSCFVVKIWGGKENIYQLLIEWKVCLDGLKYLGQQIHARNQNEIIFGLNDGYYGAPFEHK|PSIFCLWFKPQGPRGFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFLILTTTGHYSLFPLLFTAPELPIKILLMLLFTIYSISSLKTLFRKEKPLFNWMETFYLLGLGPLEVCCEFVFPFTSWKVKYPFIPLLLTSVYCAVGITYAWFKLYVSVLIDSAIGKTKKQ* 05BR026 ENSG00000189050.16 ENSG00000141376.22 -/- +/- chr17:59957224 chr17:61162787 CDS/splice-site intron duplication/5'-5' 10 3 0 192 16 high out-of-frame . . . . ENSG00000189050.16 ENSG00000141376.22 ENST00000305783.13 . upstream downstream . ^(GCCGTTGCCGCCGGGCTGAGAGAAGAGCTTGCGGGGTTTGCGGTTGATGGCCCCGACTGAAGGGCTGGAGGCGGTGTATGCCGCTGTTCTTGCTGTCGCTCCCGACACCTCCGTCCGCTTCTGGTCATGAGAG___GAGACAGAGGCCTGAAGCAAAGACATCTGGGTCAGAGAAAAAGTATTTAAGGGCCATGCAAGCCAATCGTAGCCAACTGCACAGTCCTCCAGGAACTGGAAGCAGTGAGGATGCCTCAACCCCTCAGTGTGTCCACACAAGATTGACAGGAGAGGGTTCTTGCCCTCATTCTGGAGATGTTCATATCCAGATAAACTCCATACCTAAAGAATGTGCAGAAAATGCAAGCTCCAGAAATATAAGGTCAGGTGTCCATAGCTGTGCCCATGGATGTGTACACAGTCGCTTACGGGGTCACTCCCACAGTGAAGCAAGGCTGACTGATGATACTGCCGCAGAATCTGGAGATCATGGTAGTAGCTCCTTCTCAGAATTCCGCTATCTCTTCAAGTGGCTGCAAAAAAGTCTTCCATATATTTTGATTCTGAGCGTCAAACTTGTTATGCAGCATATAACAG___GAATTTCTCTTGGAATTGGGCTGCTAACAACTTTTATGTATGCAAACAAAAGCATTGTAAATCAGGTTTTTCTAAGA___GAAAGGTCCTCAAAGATTCAGTGTGCTTGGTTACTGGTATTCTTAGCAGGATCTTCTGTTCTTTTATATTACACCTTTCATTCTCAGTCACTTTATTACAG___CTTAATTTTTTTAAATCCTACTTTGGACCATTTGAGCTTCTGGGAAGTATTTTGGATTGTTGGAATTA)CAGACTaCATaCTGAAATTCTTTTTCATGGGCTTAAAATGCCTTATTTTAgTGGTGCCTTCTTTCATCATGCCTTTTAAATCTAAG___GGTTACTGGTATATGCTTTTAGAAGAATTGTGTCAATACTACCGAACTTTTGTTCCCATACCAGTTTGGTTTCGCTACCTTATAAGCTATGGGGAGTTTGGTAACGTAACTAGATGGAGTCTTGGGATACTGCTGGCTTTACTCTACCTCATATTAAAA|GAGTGGTTCCTCGGGTTGCAGCCTCGGCTGGAGACGTTGCTCCTCCCCAAGGAGGGCATTATGACATGGAATCAGTTTCAGAAAGAGAAGTATATCCCTGAACTG MPLFLLSLPTPPSASGHERRQRPEAKTSGSEKKYLRAMQANRSQLHSPPGTGSSEDASTPQCVHTRLTGEGSCPHSGDVHIQINSIPKECAENASSRNIRSGVHSCAHGCVHSRLRGHSHSEARLTDDTAAESGDHGSSSFSEFRYLFKWLQKSLPYILILSVKLVMQHITGISLGIGLLTTFMYANKSIVNQVFLRERSSKIQCAWLLVFLAGSSVLLYYTFHSQSLYYSLIFLNPTLDHLSFWEVFWIVGITDyILKFFFMGLKCLILvVPSFIMPFKSKGYWYMLLEELCQYYRTFVPIPVWFRYLISYGEFGNVTRWSLGILLALLYLILK|ewflglqprletlllpkegimtwnqfqkekyipe 05BR026 ENSG00000108306.13 ENSG00000007216.15 -/- +/- chr17:39343180 chr17:28491846 CDS/splice-site CDS deletion/5'-5' 6 6 0 19 63 high out-of-frame . F-box-like(100%)| . . ENSG00000108306.13 ENSG00000007216.15 ENST00000577399.5 . upstream downstream . ^(GCCAAAGGAAGGGTTGCCCGGCTCCAGCCCTGCACCCCCGACCCCCGGCCTCAGGTGCAGCTCCGCAGCCATCCCCGGACCAGGGCGGGCACTTGGCCTGTTGCTCAGCGCAACCACCCTCGCCCTCCCGAGCCATGCACAGGGAGACAAGCGTCCGGCCCCGGCCCCCCAGGCCTCCCTGCAGCACCCCGTAATGTAATGCACTGGGGCGGGGGAGGCGGGGGAGGCGGCGGCGGCGGCAACCGCGGAGGCGCGGCGGCAGCCGCACTGCCCCAATCTAGACACATCCAGAAGAGGAGGAAAATGGCTCCGAGCAGGGACCGCCTGCTGCACTTTGGGTTCAAGGCGACA___)ATGTTCTCAAATAGTGATGAAGCTGTAATCAATAAAAAACTTCCCAAAGAACTCCTGTTACG|CCCAGGAAGAGGATCTGCAGCCACAACCAGGCCAGCAGCAGCAAGATGACCATGGTGGGGAAGGCGAAGCTGAACCAGGAGGCGAAGTTCACCACGTTGCCGTTTTGGGGGAAGAGCCTGAAGGAGGAACATGGGCTGCCGTGTGACATTGCCCCGAGAACTGCCCAGCCC MAPSRDRLLHFGFKATMFSNSDEAVINKKLPKELLLr|pgrgsaattrpaaar* 05BR026 ENSG00000068137.15 ENSG00000188825.14 -/- -/+ chr17:42669430 chr17:43377913 CDS/splice-site intron inversion/5'-5' 3 5 1 61 8 high out-of-frame . FERM_central_domain(100%),MyTH4_domain(100%),Ras_association_(RalGDS/AF-6)_domain(100%)| . . ENSG00000068137.15 ENSG00000188825.14 ENST00000591022.6 . upstream upstream duplicates(1),mismatches(1) ^(AGTCCCGGGGCTGCAGGGAGCGCAGCGCGCGCGGCCCGGGCCCCGGCCACCGGACGCCCTACCGGACACGACCCTCCCTGGAGCTTGGACAACTGCCCACCTCGGACGCTGCACCGGACACTGCCCCCCACAGGGCTGGACACTCCAACGGACACTACTTCCCAGCTCCGGACATTGCTCCCTCCTCTCCCGGGGCCCTGGACGCTTTTCCCCCTCCCCCCTCCGGGGGCCCAGACACTGAGCCCCCCTCAGCGTCTGGCTAGCGTCCCCTTGCACCCCAGCCCAGGACACTGCCTCCTCCCTGTCCTCTTCTCCCTTCTGCTCCTCCCACCTCATCTTTCCCCTGCTCGGGTCGGAGCCCCGCCAGTTCCTCCGACCCCCTACTGCTCGGCCGCGGCTGCCCGCGCCCCCATCCGCAGCTCCTCGCCCGGATGCCTCTCCCCGGGGGACTATGGTGGCTTCTCTGCTGCCGTCGAGGCTTCACTCTTCTGCACCGGGACTACGGGGACGGCGAGCTTAGCGGGGACGGGGACGAGGACGAGGACGAGGAAACCTTTGAGCTGCGGACCCCGAGTCCAGCGGGCGGCGGGAGG___GGTCCCCTGGAAGTGACGCTGACTCAGCCAGTGAGGAGCGGGCCTGTCTCCAACAG___GCTGCAGAGCTGGGAGGAGACTTGGAGCCTCATCCCGGAGAAAGGGCTGCCGGAGGACGACCCGGACATCGTTGTGAAAG___GTTGGCTGTACCGGGAGCCCCGCGGAGGAGGGGCGCGGCCCTGGCTGCCCCCGCGCCGAGCCTGGTTTGTGCTCACGCGGGACTCCCTGGATCAGTTCAGCAGCAGCGGGAAAGGGGCGCGGCGTCTCGGGAGCCTCGTGCTCACCAGCCTGTGCTCGGTGACCGGCCCAGAGCGCAGGCGTAAGGAGACAG___GTCTGTGGTCAGTGACTGTGTCTGGTCGGAAACACAGTGTCCGCCTCTGCTCCCCACGCCAGGCAGAGGCTGAGCGCTGGGGGGTGGCATTGCGGGAAGTGATCGCCTCCAAGGCACCCCTGGAGACCCCCACCCAGCTACTGCTCAGGGACATACAG___GAAAGTTGCGGGGACCCAGAGGCCGTTGCCCTCATTTACCTGAGGAACCCGATTCTGAGACACACTAGTGGAGCCTTGTATGCCCCACTCCTGCCCCTGCCCTATGGAGTCAGCGCCCCAG___GTCCGGGCTATGCACCCCTGCGCGAGGAGGCGGTGCGGCTGTTCTTGGCGCTGCAGGCGCTGGAGGGGGCGCGGCGCCCCGGGCCCTTGATGCAGGGTGTGCTCCAAACCTGCCGGGACTTGCCCGCGCTCCGGGATGAACTCTTCCTGCAGCTGGCTAAGCAGACCTCGGGCCCTGCAGGTCCCCCCGGGCTCCCGGCTACCCAAGACCCTGCGGCCCTGCGGTACTGGCAACTCCTCACCTGCATGAGCTGCACCTTCCGACCTGGGGGAGCTGTGCGGGGGCACCTCCTGGGGCACTTGGAGAG___GACCGAGCAGGCACTCCCGGACTCGGAACTGGCGGAATATGCGCGCTTCATCCGGAAAGCGCTGGGCCGGACGCGCGGCAGAGAGCTGGTGCCCTCGCTGGCGGAGATTTCCGCGTTGAGCCAACGGCAGGAGCTGCTGTGTACCGTGCACTGTCCGGGGGCTGGTGCCTGTGCTGTGGCCATCGACTCCCACACCACGGCGGGGGAG___GTGGCTCGAGAGCTGGTGGGGCGGCTGGGCTTGGCCCGGAGCCGCAACGCATTCGCGCTGTACGAGCAGCGAGGGGCCCAGGAGCGAGCCCTGGCTGGGGGGACCCTCGTGGCCGACGTGCTCACCAGGTTTGAGAA___CTTGGCCGCGGAGGAAGCTGGGTTGGAGGACTCGCCCGACTCCGGGTGGAGACTATGTCTGCGTCTTCACGGACCTCTGCACCCTGAGGGGCTGTCCCCAGACGGTCACGAACTGCCTTTCCTCTTTGAGCAG___GCTCACGCTCTGCTGCTGCGGGGCCGGCCGCCCCCACCCGACGACACGCTGCGCGCCCTGGCGGCGCTGCGCCTGCAGAGCCTGCAGCGGGACTTCTCTCCGCGGGTGCCCCTGCCCCGCCTGGACCGCCTGCTCCCGCCCCCGGCCCCGCCGCGCGAAGACCCGCCCCGCCCGACCCCCAGGCCGCCCCCTTCCGCTGCCCTGCTGGCCGGGGCGCTCTGGAGCCCGGGCCTGGCCAAGAGGCGGGCGGAGCGGGCCCGGCGCGGCGGGGCCGGCCGCACTGCGGGAAGCATTGCCCGCGAGGGAGGAGGCGGCGCCGGCACGGCAGCTGCCGTGCTGGGCGGCTGGAAGCGGCTACGGGGCATGGGCCGAGCTGAGGCCATGGCCGCCTACCTGGCCCTGGCGGCGCAGTGTCCGGGGTTCGGCGCTGCTCGGTATGACGTTCTGGAGCTGAGCACG___GAGCCT)GGTCGGGGTGCTCCACAGAAGCTGTGCCTGGGCTTGGGAGCCAAGGCCATGTCCCTCTCCCGGCCAGGGGAGACGGAGCCCATCCACAGTGTCAGCTATGGCCATGTGGCCGCCTGCCAGCTAATGGGCCCCCACACCCTGGCCTTGAGGGTGGGAGAGAGCCAGCTCCTCCTGCAGAGCCCCCAG|TAACCATGATCACGACCACATTTGAGAATCAGGGCTCTTTGCAGCTGGGGCAATACTTCTGGATCGGGAGCAACTTATCATGGAGGACCTGGTATTAGAGGACACGTTGAC...ACGATCAAGGCATTAAAAGTCCTCACATCAAGATGGACATGGCCTTCTCCCAGTCCATTCCACATACAGCATTTATTTGGCCGGCACTGCTGTCTATTTCTTCAAGAATGCATTTTCTCCTAATCATTCCATTTCAAACAGAGCCACGGC MPLPGGLWWLLCCRRGFTLLHRDYGDGELSGDGDEDEDEETFELRTPSPAGGGRGPLEVTLTQPVRSGPVSNRLQSWEETWSLIPEKGLPEDDPDIVVKGWLYREPRGGGARPWLPPRRAWFVLTRDSLDQFSSSGKGARRLGSLVLTSLCSVTGPERRRKETGLWSVTVSGRKHSVRLCSPRQAEAERWGVALREVIASKAPLETPTQLLLRDIQESCGDPEAVALIYLRNPILRHTSGALYAPLLPLPYGVSAPGPGYAPLREEAVRLFLALQALEGARRPGPLMQGVLQTCRDLPALRDELFLQLAKQTSGPAGPPGLPATQDPAALRYWQLLTCMSCTFRPGGAVRGHLLGHLERTEQALPDSELAEYARFIRKALGRTRGRELVPSLAEISALSQRQELLCTVHCPGAGACAVAIDSHTTAGEVARELVGRLGLARSRNAFALYEQRGAQERALAGGTLVADVLTRFENLAAEEAGLEDSPDSGWRLCLRLHGPLHPEGLSPDGHELPFLFEQAHALLLRGRPPPPDDTLRALAALRLQSLQRDFSPRVPLPRLDRLLPPPAPPREDPPRPTPRPPPSAALLAGALWSPGLAKRRAERARRGGAGRTAGSIAREGGGGAGTAAAVLGGWKRLRGMGRAEAMAAYLALAAQCPGFGAARYDVLELSTEPGRGAPQKLCLGLGAKAMSLSRPGETEPIHSVSYGHVAACQLMGPHTLALRVGESQLLLQSPQ|* 05BR026 ENSG00000108641.18 ENSG00000186642.16 -/- -/- chr17:19357840 chr11:72590244 CDS/splice-site CDS/splice-site translocation 3 2 0 152 21 high in-frame . Ciliary_basal_body-associated__B9_protein(100%)|3'5'-cyclic_nucleotide_phosphodiesterase(100%),GAF_domain(100%) . . ENSG00000108641.18 ENSG00000186642.16 ENST00000671102.1 ENST00000334456.10 upstream downstream . ^(GGGTCCCCCCGGCACCCCCAGACCTGCCATGGCGACCGCGAGTCCTAGCGTCTTTCTACTCATGGTCAACGGGCAGGTGGAGAGCGCCCAG___TTTCCAGAGTATGATGACCTCTACTGCAAGTACTGCTTTGTGTACGGCCAGGACTGGGCCCCCACAGCG___GGTCTG)GAGGAGGGGATCTCACAGATCACATCCAAGAGCCAAGATGTGCGGCAAGCACTGGTGTGGAACTTCCCCATTGATGTCACCTTTAAAAGCACCAACCCCTACGGCT|GGGAACTCTACGACCTGGATGCCTCTTCCCTGCAGCTCAAAGTGCTCCAATAC___CTGCAGCAGGAGACCCGGGCATCCCGCTGCTGCCTCCTGCTGGTGTCGGAGGACAATCTCCAGCTTTCTTGCAAG___GTCATCGGAGACAAAGTGCTCGGGGAAGAGGTCAGCTTTCCC___TTGACAGGATGCCTGGGCCA(GGTGGTGGAAGACAAGAAGTCCATCCAGCTGAAGGACCTCACCTCC___GAGGATGTACAACAGCTGCAGAGCATGTTGGGCTGTGAGCTGCAGGCCATGCTCTGTGTCCCTGTCATCAGCCGGGCCACTGACCAGGTGGTGGCCTTGGCCTGCGCCTTCAACAAGCTAGAAGGAGACTT___GTTCACCGACGAGGACGAGCATGTGATCCAGCACTGCTTCCACTACACCAGCACCGTGCTCACCAGCACCCTGGCCTTCCAGAAGGAACAGAAACTCAAGTGTGAGTGCCAG___GCTCTTCTCCAAGTGGCAAAGAACCTCTTCACCCACCTGG___ATGACGTCTCTGTCCTGCTCCAGGAGATCATCACGGAGGCCAGAAACCTCAGCAACGCAGAGAT___CTGCTCTGTGTTCCTGCTGGATCAGAATGAGCTGGTGGCCAAGGTGTTCGACGGGGGCGTGGTGGATGATGAG___AGCTATGAGATCCGCATCCCGGCCGATCAGGGCATCGCGGGACACGTGGCGACCACGGGCCAGATCCTGAACATCCCTGACGCATATGCCCATCCGCTTTTCTACCGCGGCGTGGACGACAGCACCGGCTTCCGCACGCGCAACATCCTCTGCTTCCCCATCAAGAACGAGAACCAGG___AGGTCATCGGTGTGGCCGAGCTGGTGAACAAGATCAATGGGCCATGGTTCAGCAAGTTCGACGAGGACCTGGCGACGGCCTTCTCCATCTACTGCGGCATCAGCATCGCCCAT___TCTCTCCTATACAAAAAAGTGAATGAGGCTCAGTATCGCAGCCACCTGGCCAATGAGATGATGATGTACCACATGAAG___GTCTCCGATGATGAGTATACCAAACTTCTCCATGATGGGATCCAGCCTGTGGCTGCCATTGACTCCAATTTTGCAAGTTTCACCTATACCCCTCGTTCCCTGCCCGAGGATGACACGTCCATG___GCCATCCTGAGCATGCTGCAGGACATGAATTTCATCAACAACTACAAAATTGACTGCCCGACCCTGGCCCG___GTTCTGTTTGATGGTGAAGAAGGGCTACCGGGATCCCCCCTACCACAACTGGATGCACGCCTTTTCTGTCTCCCACTTCTGCTACCTGCTCTACAAGAACCTGGAGCTCACCAACTACCTCGA___GGACATCGAGATCTTTGCCTTGTTTATTTCCTGCATGTGTCATGACCTGGACCACAGAGGCACAAACAACTCTTTCCAGGTGGCCTCG___AAATCTGTGCTGGCTGCGCTCTACAGCTCTGAGGGCTCCGTCATGGAG___AGGCACCACTTTGCTCAGGCCATCGCCATCCTCAACACCCACGGCTGCAACATCTTTGATCATTTCTCCCGGAAG___GACTATCAGCGCATGCTGGATCTGATGCGGGACATCATCTTGGCCACAGACCTGGCCCACCATCTCCGCATCTTCAAGGACCTCCAGAAGATGGCTGAGG___TGGGCTACGACCGAAACAACAAGCAGCACCACAGACTTCTCCTCTGCCTCCTCATGACCTCCTGTGACCTCTCTGACCAGACCAAGGGCTGGAAGACTACGAGAAAGATCGCG___GAGCTGATCTACAAAGAATTCTTCTCCCAGGGAGACCTG___GAGAAGGCCATGGGCAACAGGCCGATGGAGATGATGGACCGGGAGAAGGCCTATATCCCTGAGCTGCAAATCAGCTTCATGGAGCACATTGCAATGCCCATCTACAA___GCTGTTGCAGGACCTGTTCCCCAAAGCGGCAGAGCTGTACGAGCGCGTGGCCTCCAACCGTGAGCACTGGACCAAGGTGTCCCACAAGTTCACCATCCGCGGCCTCCCAAGTAACAACTCGCTGGACTTCCTGGATGAGGAGTACGAGGTGCCTGATCTGGATGGCACTAGGGCCCCCATCAATGGCTGCTGCAGCCTTGATGCTGAGTGATCCCCTCCAGGGACACTTCCCTGCCCAGGCCACCTCCCACAGCCCTCCACTGGTCTGGCCAGATGCACTGGGAACAGAGCCACGGGTCCTGGGTCCTAGACCAGGACTTCCTGTGTGACCCTGGACAAGTACTACCTTCCTGGGCCTCAGCTTTCTCGTCTGTATAATGGAAGCAAGACTTCCAACCTCACGGAGACTTTGTAATTTGTTTTCTGAGAGCACAGGGGTGACCAATGAGCAGTGGGCCCTACTCTGCACCTCTGACCACACCTTGGCAAGTCTTTCCCAAGCCATTCTTTGTCTGAGCAGCTTGATGGTTTCTCCTTGCCCCATTTCTGCCCCACCAGATCTTTGCTCCTTTCCCTTTGAGGACTCCCACCCTTTGGGGTCTCCAGGATCCTCATGGAAGGGGAAGGTGAGACATCTGAGTGAGCAGAGTGTGGCATCTTGGAAACAGTCCTTAGTTCTGTGGGAGGACTAGAAACAGCCGCGGGGCGAAGGCCCCCTGAGGACCACTACTATACTGATGGTGGGATTGGGACCTGGGGGATACAGGGGCCCCAGGAAGAAGCTGCCAGAGGGGCAGCTCAGTGCTCTGCAGAGAGGGGCCCTGGGGAGAAGCAGGATGGGATTGATGGGCAGGAGGGATCCCCGCACTGGGAGACAGGCCCAGGTATGAATGAGCCAGCCATGCTTCCTCCTGCCTGTGTGACGCTGGGCGAGTCTCTTCCCCTGTCTGGGCCAAACAGGGAGCGGGTAAGACAATCCATGCTCTAAGATCCATTTTAGATCAATGTCTAAAATAGCTCTATCGCTCTGCGGAGTCCCAGCAGAGGCTATGGAATGTTTCTGCAACCCTAAGGCACAGAGAGCCCAACCCTGAGTGTCTCAGAGGCCCCCTGAGTGTTCCCCTTGGCCTGAGCCCCTTACCCATTCCTGCAGCCAGTGAGAGACCTGGCCTCAGCCCTGGCAGGGCTCTCTCTTCAAGGCCATATCCACCTGTGCCCTGGGGCTTGGGAGACCCCATAGGGCCGGGACTCTTGGGTCAGCCCGGCCACTGGCTTCTCTCTTTTTCTCTGTTTCATTCTGTGTGCGTTGTGGGGTGGGGGAGGGGGTCCACCTGCCTTACCTTTCTGAGTTGCCTTTAGAGAGATGCGTTTTTCTAGGACTCTGTGCAACTGTCGTATATGGTCCCGTGGGCTGACCGCTTTGTACATGAGAATAAATCTATTTCTTTCTACCA)$ MATASPSVFLLMVNGQVESAQFPEYDDLYCKYCFVYGQDWAPTAGLEEGISQITSKSQDVRQALVWNFPIDVTFKSTNPYG|wELYDLDASSLQLKVLQYLQQETRASRCCLLLVSEDNLQLSCKVIGDKVLGEEVSFPLTGCLGQVVEDKKSIQLKDLTSEDVQQLQSMLGCELQAMLCVPVISRATDQVVALACAFNKLEGDLFTDEDEHVIQHCFHYTSTVLTSTLAFQKEQKLKCECQALLQVAKNLFTHLDDVSVLLQEIITEARNLSNAEICSVFLLDQNELVAKVFDGGVVDDESYEIRIPADQGIAGHVATTGQILNIPDAYAHPLFYRGVDDSTGFRTRNILCFPIKNENQEVIGVAELVNKINGPWFSKFDEDLATAFSIYCGISIAHSLLYKKVNEAQYRSHLANEMMMYHMKVSDDEYTKLLHDGIQPVAAIDSNFASFTYTPRSLPEDDTSMAILSMLQDMNFINNYKIDCPTLARFCLMVKKGYRDPPYHNWMHAFSVSHFCYLLYKNLELTNYLEDIEIFALFISCMCHDLDHRGTNNSFQVASKSVLAALYSSEGSVMERHHFAQAIAILNTHGCNIFDHFSRKDYQRMLDLMRDIILATDLAHHLRIFKDLQKMAEVGYDRNNKQHHRLLLCLLMTSCDLSDQTKGWKTTRKIAELIYKEFFSQGDLEKAMGNRPMEMMDREKAYIPELQISFMEHIAMPIYKLLQDLFPKAAELYERVASNREHWTKVSHKFTIRGLPSNNSLDFLDEEYEVPDLDGTRAPINGCCSLDAE* 05BR026 ENSG00000124422.12 ENSG00000154229.12 -/- +/+ chr17:21004202 chr17:66496201 CDS/splice-site CDS/splice-site inversion 3 1 1 163 9 high out-of-frame . Ubiquitin_carboxyl-terminal_hydrolase(100%),Zn-finger_in_ubiquitin-hydrolases_and_other_protein(100%)|C2_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000124422.12 ENSG00000154229.12 ENST00000537526.6 ENST00000413366.8 upstream upstream . ^(ATGGCGCCGGGTTGGCCCTCACTATCAGCGGGCTCCCGACAGGAGGCGCCCCAGCTTGCGGCCGGGGGCAGCGCCTACCAGGCAGTTGGCAGGCAGTTCCAGCCCCGGGCCACGGCACTGCAGGGCCCGAGCCAG___GCCAAGTCCTGTATCTGCCATGTCTGTGGCGTCCACCTCAACAGGCTGCATTCCTGCCTCTACTGTGTCTTCTTCGGCTGTTTCACAAAGAAGCATATTCACGAGCATGCGAAGGCGAAGCGGCACAACCTGG___CCATTGATCTGATGTACGGAGGCATCTACTGTTTTCTGTGCCAGGACTACATCTATGACAAAGACATGGAAATAATCGCCAAGGAGGAGCAGCGAAAAGCTTGGAAAATGCAAG___GCGTTGGAGAGAAGTTTTCAACTTGGGAACCAACCAAACGGGAGCTTGAACTGCTGAAGCACAACCCGAAAAGGAGAAAGATCACCTCGAACTGCACCATAG___GTCTGCGTGGGCTGATCAACCTTGGGAACACATGCTTCATGAACTGCATCGTGCAGGCCCTGACCCACACGCCACTTCTGCGGGACTTCTTCCTGTCTGACAGGCACCGCTGTGAGATGCAGAGCCCCAGCTCCTGTCTGGTCTGTGAGATGTCCTCACTGTTTCAGGAG___TTTTACTCTGGACACCGGTCCCCTCACATCCCGTATAAGTTGCTGCACCTGGTGTGGACCCACGCGAGGCACCTAGCAGGCTACGAGCAGCAGGACGCCCACGAGTTCCTCATCGCGGCCCTGGACGTGCTCCACCGACACTGCAAAG___GTGATGACAATGGGAAGAAGGCCAACAACCCCAACCACTGCAACTGCATCATAGACCAGATCTTCACAGGCGGGTTGCAGTCAGACGTCACCTGCCAAGTCTGCCA___TGGAGTCTCCACCACCATCGACCCCTTCTGGGACATCAGCTTGGATCTCCCCGGCTCTTCCACCCCATTCTGGCCCCTGAGCCCAGGGAGCGAGGGCAACGTGGTAAACGGGGAAAGCCACGTGTCGGGAACCACCACGCTCACGGACTGCCTGCGACG___ATTCACCAGACCAGAGCACTTGGGCAGCAGCGCCAAGATCAAGTGCAGCGGTTGCCATAGCTACCAGGAGTCCACAAAGCAGCTCACTATGAAGAAACTGCCCATCGTAGCCTGTTTTCATCTCAAA___CGATTTGAACACTCAGCCAAGCTGCGGCGGAAGATCACCACGTATGTGTCCTTCCCCCTGGAGCTGGACATGACCCCTTTCATGGCCT)CCAG___CAAAGAGAGCAGGATGAATGGACAGTACCAGCAGCCCACGGACAGTCTCAACAATGACAACAA___GTATTCCCTGTTTGCTGTTGTTAACCATCAAGGGACCTTGGAGAGTGGCCACTACACCAGCTTTATCCGGCAGCACAAAGACCAGTGGTTCAAGTGTGACGATGCCATCATCACCAAGGCCAGCATCAAGGACGTCCTGGACAGCGAAGG|TTTGCTGTTTTGTGGTCCACAAGAGGTGCCATGAATTTGTTACTTTTTCTTGTCCGGGTGCGGATAAGGGACCCGACACTGAT(___GACCCCAGGAGCAAGCACAAGTTCAAAATCCACACTTACGGAAGCCCCACCTTCTGCGATCACTGTGGGTCACTGCTCTATGGACTTATCCATCAAGGGATGAAATGTGACA___CCTGCGATATGAACGTTCACAAGCAATGCGTCATCAATGTCCCCAGCCTCTGCGGAATGGATCACACTGAGAAGAGGGGGCGGATTTACCTAAAGGCTGAGGTTGCTGATGAAAAGCTCCATGTCACAG___TACGAGATGCAAAAAATCTAATCCCTATGGATCCAAACGGGCTTTCAGATCCTTATGTGAAGCTGAAACTTATTCCTGATCCCAAGAATGAAAGCAAGCAAAAAACCAAAACCATCCGCTCCACACTAAATCCGCAGTGGAATGAGTCCTTTACATT___CAAATTGAAACCTTCAGACAAAGACCGACGACTGTCTGTAGAAATCTGGGACTGGGATCGAACAACAAGGAATGACTTCATGGGATCCCTTTCCTTTGGAGTTTCGGAGCTGATGAAGATGCCGGCCAGTGGATG___GTACAAGTTGCTTAACCAAGAAGAAGGTGAGTACTACAACGTACCCATTCCGGAAGGGGACGAGGAAGGAAACATGGAACTCAGGCAGAAATTCGAG___AAAGCCAAACTTGGCCCTGCTGGCAACAAAGTCATCAGTCCCTCTGAAGACAGGAAACAACCTTCCAACAACCTTGACCGAGTGAAACTCACGGACTTCAATTTCCTCATGGTGTTGGGAAAGGGGAGTTTTGGAAAG___GTGATGCTTGCCGACAGGAAGGGCACAGAAGAACTGTATGCAATCAAAATCCTGAAGAAGGATGTGGTGATTCAGGATGATGACGTGGAGTGCACCATGGTAGAAAAGCGAGTCTTGGCCCTGCTTGACAAACCCCCGTTCTTGACGCAGCTGCACTCCTGCTTCCAGACAGTG___GATCGGCTGTACTTCGTCATGGAATATGTCAACGGTGGGGACCTCATGTACCACATTCAGCAAGTAGGAAAATTTAAGGAACCACAAGCAGT___ATTCTATGCGGCAGAGATTTCCATCGGATTGTTCTTTCTTCATAAAAGAGGAATCATTTATAG___GGATCTGAAGTTAGATAACGTCATGTTGGATTCAGAAGGACATATCAAAATTGCTGACTTTGGGATGTGCAAGGAACACATGATGGATGGAGTCACGACCAGGACCTTCTGTGGGACTCCAGATTATATCGCCCCAGAG___ATAATCGCTTATCAGCCGTATGGAAAATCTGTGGACTGGTGGGCCTATGGCGTCCTGTTGTATGAAATGCTTGCCGGGCAG___CCTCCATTTGATGGTGAAGATGAAGACGAGCTATTTCAGTCTATCATGGAGCACAACGTTTCCTATCCAAAATCCTTGTCCAAGGAGGCTGTTTCTGTCTGCAAAGGA___CTGATGACCAAACACCCAGCCAAGCGGCTGGGCTGTGGGCCTGAGGGGGAGAGGGACGTGAGAGAGCATGCCTTCTTCCGGAGGATCGACTGGGAAAAACTGGAGAACAGGGAGATCCAGCCACCATTCAAGCCCAAAGTG___TGTGGCAAAGGAGCAGAGAACTTTGACAAGTTCTTCACACGAGGACAGCCCGTCTTAACACCACCTGATCAGCTGGTTATTGCTAACATAGACCAGTCTGATTTTGAAGGGTTCTCGTATGTCAACCCCCAGTTTGTGCACCCCATCTTACAGAGTGCAGTATGAAACTCACCAGCGAGAACAAACACCTCCCCAGCCCCCAGCCCTCCCCGCAGTGGGAAGTGAATCCTTAACCCTAAAATTTTAAGGCCACGGCCTTGTGTCTGATTCCATATGGAGGCCTGAAAATTGTAGGGTTATTAGTCCAAATGTGATCAACTGTTCAGGGTCTCTCTCTTACAACCAAGAACATTATCTTAGTGGAAGATGGTACGTCATGCTCAGTGTCCAGTTTAATTCTGTAGAAGTTACGTCTGGCTCTAGGTTAACCCTTCCTAGAAAGCAAGCAGACTGTTGCCCCATTTTGGGTACAATTTGATATACTTTCCATACCCTCCATCTGTGGATTTTTCAGCATTGGAATCCCCCAACCAGAGATGTTAAAGTGAGCCTGTCCCAGGAAACATCTCCACCCAAGACGTCTTTGGAATCCAAGAACAGGAAGCCAAGAGAGTGAGCAGGGAGGGATTGGGGGTGGGGGAGGCCTCAAAATACCGACTGCGTCCATTCTCTGCCTCCATGGAAACAGCCCCTAGAATCTGAAAGGCCGGGATAAACCTAATCACTGTTCCCAAACATTGACAAATCCTAACCCAACCATGGTCCAGCAGTTACCAGTTTAAACAAAAAAACCTCAGATGAGTGTTGGGTGAATCTGTCATCTGGTACCCTCCTTGGTTGATAACTGTCTTGATACTTTTCATTCTTTGTAAGAGGCCAAATCGTCTAAGGACGTTGCTGAACAAGCGTGTGAAATCATTTCAGATCAAGGATAAGCCAGTGTGTACATATGTTCATTTTAATCTCTGGGAGATTATTTTTCCATCCAGGGTGCCATCAGTAATCATGCCACTACTCACCAGTGTTGTTCACCAACACCCACCCCCACACACACCAACATTTTGCTGCCTACCTTGTTATCCTTCTCAAGAAGCTGAAGTGTACGCCCTCTCCCCTTTTGTGCTTATTTATTTAATAGGCTGCAGTGTCGCTTATGAAAGTACGATGTACAGTAACTTAATGGAAGTGCTGACTCTAGCATCAGCCTCTACCGATTGATTTTCCTCCCTTCTCTAGCCCTGGATGTCCACTTAGGGATAAAAAGAATATGGTTTTGGTTCCCATTTCTAGTTCACGTTGAATGACAGGCCTGGAGCTGTAGAATCAGGAAACCCGGATGCCTAACAGCTCAAAGATGTTTTGTTAATAGAAGGATTTTAATACGTTTTGCAAATGCATCATGCAATGAATTTTGCATGTTTATAATAAACCTTAATAACAAGTGAATCTATATTATTGATATAATCGTATCAAGTATAAAGAGAGTATTATAATAATTTTATAAGACACAATTGTGCTCTATTTGTGCAGGTTCTTGTTTCTAATCCTCTTTTCTAATTAAGTTTTAGCTGAATCCCTTGCTTCTGTGCTTTCCCTCCCTGCACATGGGCACTGTATCAGATAGATTACTTTTTAAATGTAGATAAAATTTCAAAAATGAATGGCTAGTTTACGTGATAGATTAGGCTCTTACTACATATGTGTGTGTATATATATGTATTTGATTCTACCTGCAAACAAATTTTTATTGGTGAGGACTATTTTTGAGCTGACACTCCCTCTTAGTTTCTTCATGTCACCTTTCGTCCTGGTTCCTCCGCCACTCTTCCTCTTGGGGACAACAGGAAGTGTCTGATTCCAGTCTGCCTAGTACGTTGGTACACACGTGGCATTGCCGCAGCACCTGGGCTGACCTTTGTGTGTGCGTGTGTGTGTGTTTCCTTCTTCCCTTCAGCCTGTGACTGTTGCTGACTCCAGGGGTGGGAGGGATGGGGAGACTCCCCTCTTGCTGTGTGTACTGGACACGCAGGAAGCATGCTGTCTTGCTGCCTCTGCAACGACCTGTCGTTTGCTCCAGCATGCACAAACTTCGTGAGACCAACACAGCCGTGCCCTGCAGGCACCAGCACGTGCTTTTCAGAGGCTGCGGACTTTCTTCCAGCCATTGTGGCATTGGCCTTTCCAGTCTTGGGAGGAGCGCGCTGCTTTGGTGAGACACCCCCATGCAAGGTCCTCAGAGTAGCCGGGTTCTACCACAAACAGAAACAGAATGAAAGTAGCTGTCAGTCCTTGTAGAGAGCCGCTCTGTTTCCTCCCAGAAGCATCTCCCAGCTAAGCTCGCATTATTTTTCTCCTCTGGCTGTTTGCCTGAAGTTCACAGAACACACAACCATGAAAGGCTTTTTGAGGTGAGAGGCCCAGGTGGTCCTGGCAACCCTGAGTAGAAGGAGAGACGGGGTAGGGAACGGGCCCGGCCAGAAAAGAACCATTTCTTCTGCCATCTTTTATGCACCATAGACATCGAGACTCCAGGGGGTCCTGGCTCCCCTGTCCCTGCAGCCCTGCAGGTCAGTGCATGATCTGGGTTCGTGTCCTGACCAGGTGCTCCTCCTTTGATCCGAGGGGAAAGGGACTGGTTTATAGAAAGAGCCTAGGAGACAAAAGGGCCAGTCCCCCTGCCCAGAATGGAGCAGCAGCAGGACAGACCCCCACGAGGCCCCCCAGAGAGGAGGAAGATCCCACGGAGGAACACATGAGGTTAGGGACCCTTGTTCAGCACCCCAAACAGCCTGCCTGTTTAAAGCAGGCAGCAGGCTTAGGCCTTCCCTGCAACCCCAACACCCACAAGTTTGTTTCTCTAGGAAACACATTCACTGTCTCAGCTGGCTGTTACTCTCTCAGACCATATGGCAAAGTTTTCCAAGAAAATGCCCCGACAGGGGTGCCCAGCACACTGCCTGAGGGACAACAGACATCAGAACAAACCCCCAGAGAGAAACAGTCAAAATCAGGGCCCGGTGCAGTGTTGTCATGTGGAACCTGCTTTATCCATTGCTGAGTGTTGAATGTGGGTAATGGTTAGGGCTTTCCAGATCTCAGCAGCCAAAGACAGTTATTGTTGGAAGACTGTCATGTAGATAACCATGAGCAATGGCTCGCCTCAGAATCAGTTCATAAAATTCTATGGTACTGGCCCCTTCGTGGGTATTGTGTGAAATGAGATGGTGGCGAGGGGTGCGCTGTGGAACTGCCGCAGCCACGCAGGAGGTCCCTGGGGGATGCTTTGGGAAGTCCTTGCCCCTGAGCACTGCCTGATTGCCAGGGCCTGTGGAGGTCTAGGCCGCCTGGCAGAATCTAGCACCGTCCGAATCCCCGCAGGACCCATGGAGCTATGACCACACCAGGCCATTCAAATGGCTCTGCATTATCTTCCCTTGGAAGGTGGCCACTCCTCGGTGGCAGGGCCTTTCCCTGAGGCTGCAGGCCGTGGGCTGGCAGCCCGTCTCTTGGCATTTCAATTGAAGGTCACCAGGTGCTGGGTTTGAAAGGAAGTCACTGGAGTGCTGCCAGGGGCCGCCCTCCAAGGTTAATGAGAGGCCCACATCCAGGCAAGAACTAATTCAAAAGGCAGATCAGAAACCACAGGAGTCAAAATTATTGCTCCGGCAGTGCTTCCCTTCCTTTCATCCACTGGCCTCGTGTGGTCCATGCAGGGCCACTGTCTGCCCTTTCTGATGCCACGTATTAGGCTTTCTTACTCAGAATTTTGATAGAAAACCATGGGGCCAAGAGCTCTGGAAGCCTGGCCGGAAAGACCAAGGTTCATGCAGCCCAACAAATGATTGTTGAGCACCTCTCGGAGCCAAAGTCCTTAGGCGAGTGTGGTGACTTCCTGGAAGGAGGATGCAGACTTCCAGAGAGCCCCCCCAACGGACGTGCTGAGAAGGGAGAGGGAGGCGGGGGCTGTAGTCAGGAAGGAGCCAGAGAAGAACAGGGTTTGGGTGCATCCAGAAATATGCCTGCAGTAGGAGGGAGAGGAAGGGGTGCCACCGTCAACGGCTTCCCATCGGAGGTGGTTGGTGCAGATGGAAGTTTCTGTCTGCTGGCCCTCAAGAGAGTGTTTTGCCAGGGACACAGTCTGTTCCTCCTCAGAAAACACCCCCCAAATGCTAACAACATCCCCACCAGCTGCTAGAAGCCCCTTTCCCCTCCCCACCTTGAAGTAGCTCATAGTTCTCTGGGCAGAGCCAGACCATCCAGTGTACCCCAGAGGCCAGTAGGTTCCTGCCCATTTTCCTCTCTGGCTTCCTGCCAAGAATTATGGCAGCTGAGGATGAATGGAGAAGTAAAAACAACTAACACCGCACAACTAACAACTAACACCGCAGTTCCCACCTGGGTTCCACTTAGCAGGAGACATTTCGGAGGGTTTTTTTTGTTTTTGTTCCTGTTTTTTTTTTTTTTGCTGGAATTTGTTTTCTCAGTACTGAAAAGAGAAAAAGTGACAATCTTGTATTTTTAAAAGCCTCGGAAAGGTGATACCATCTGACAGTCATTTTCTCACGTTGGTCTTCTAAAGTCACCTATTTCTTGTGTGTGCACATCACACCATTTCCTGTTTCTTTATAACCCGACAAGGGTAGGAGTGCCTGTTTCCCCTGCTGGGCACACCAGACAATCGTAATCACAAAACAGACACTGAGCCAGGGGCCCAAAGGGTGTGATCATGAGAGTTACCGGGACAGCAGTAGGCATGACAGTCACCAGGAAGGACAAGGGTGCTCTGTTGTTAGTGGCCACACACCAATTTGACAAGGAGTGTTGCGAAATTTTTATTTATTTATTTATTTATTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCGGTGGTACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAAATTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTTGAACCCCTGACCTCATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAAATATTTTTTTAAAGTCATTTTCCTTAAGCTGCTTGGGCTACATGTGAAATACACTGGACGGTCAACATTCCTGTCTCCTCCCATTTGGGCTGATGCAGCAGATCCAGGGAATGTTACCTGTTTCTGCTGCTAGAAGATCCAGGAAATTGGGAAGGTTACCTGACGCACACATGGATGAAGGCCATCATCTAGAAATGGGGTCAACCACAATTGTGTTAATTCCGTAGTGTCAGGGATTCTTCGGGAAGGTCAACAGTATGAAGGATTCTGACCCCTGTGCCTCCCATTTATGTGATCAGGTGACAGTTAATAACCGTGGAGGTCACACTCAGCCATCCAACAGCCTTACAGTGACCCTACACAAAAGCCCCCAAATTCCAAAGACTTTTTCTTAACCTAAAGGAAGAAATTATTTGTTAATTCCAGTAGAGCAACTGAATATACTGGGCTATTTGTACTTTTTTATAGAGAACTTTAATAATAATTCTTTAAAAATGAGTTTTTAGAACAAAGCAACTGACGATTTCCTAAGATTCCAATGCCCTGGAGCTTGTAGGAGGACTTAGCCTGGGTCAGCTGGAGCACCCCCGACCTGATCTCCCACTGCCAGATTTTCCCATGCTCCTAGGGTATGGAGTCCACGTGGGAATGACTGCAAGTTCAGGTGGAACTTGGCCGACTGATGCTCTGCGAGTTTTTAATAGACACTGGGGACAACTGCTTAAGGTTTAGAAACTTCCAAACCACAGGAAAGACATTTTTAGTGTCCCCCATCCAGAGGCAGCCCTGGAATAGGATTCCCAGGGGTTTCTGGGACCCCTTTCCTTGCTCCGTGAGGCTCTGTGGCCATCTTTTGGCAGGAGGAGGATGCTTCCTTGGCTCTGTGCCCAGACCCGCCTGGTCCCCAGGTCTCTCACCTTGGGTGAAGATTCAGAGATGCCCTGTAAGGATTTTGCCCACTGGGCAACTCAGAAATACTTCGATCTCCCAAGATATAAGAGGCAGCAGCAAACGTGCCTATTGACGTCTGTTTCATAGTTACCACTTACGCGAGTAGACAGAACTCGGCTTTTCAGAAAATAGGTGTCAAGTCCACTTTATAAGAACCTTTTTTTCTAAAATAAGATAAAAGGTGGCTTTGCATTTTCTGATTAAACGACTGTGTCTTTGTCACCTCTGCTTAACTTTAGGAGTATCCATTCCTGTGATTGTAGACTTTTGTTGATATTCTTCCTGGAAGAATATCATTCTTTTCTTGAAGGGTTGGTTTACTAGAATATTCAAAATCAATCATGAAGGCAGTTACTATTTTGAGTCTAAAGGTTTTCTAAAAATTAACCTCACATCCCTTCTGTTAGGGTCTTTCAGAATATCTTTTATAAACAGAAGCATTTGAAGTCATTGCTTTTGCTACATGATTTGTGTGTGTGAAGGACATACCACGTTTAAATCATTAATTGAAAAACATCATATAAGCCCCAACTTTGTTTGGAGGAAGAGACGGAGGTTGAGGTTTTTCCTTCTGTATAAGCACCTACTGACAAAATGTAGAGGCCATTCAACCGTCAAACACCATTTGGTTATATCGCAGAGGAGACGGATGTGTAAATTACTGCATTGCTTTTTTTTTCAGTTTGTATAACCTCTAATCTCCGTTTGCATGATACGCTTTGTTAGAAACATTAATTGTAGTTTGGAAGCAAGTGTGTATGAATAAAGATAATGATCATTC)$ MAPGWPSLSAGSRQEAPQLAAGGSAYQAVGRQFQPRATALQGPSQAKSCICHVCGVHLNRLHSCLYCVFFGCFTKKHIHEHAKAKRHNLAIDLMYGGIYCFLCQDYIYDKDMEIIAKEEQRKAWKMQGVGEKFSTWEPTKRELELLKHNPKRRKITSNCTIGLRGLINLGNTCFMNCIVQALTHTPLLRDFFLSDRHRCEMQSPSSCLVCEMSSLFQEFYSGHRSPHIPYKLLHLVWTHARHLAGYEQQDAHEFLIAALDVLHRHCKGDDNGKKANNPNHCNCIIDQIFTGGLQSDVTCQVCHGVSTTIDPFWDISLDLPGSSTPFWPLSPGSEGNVVNGESHVSGTTTLTDCLRRFTRPEHLGSSAKIKCSGCHSYQESTKQLTMKKLPIVACFHLKRFEHSAKLRRKITTYVSFPLELDMTPFMASSKESRMNGQYQQPTDSLNNDNKYSLFAVVNHQGTLESGHYTSFIRQHKDQWFKCDDAIITKASIKDVLDSEg|llfcgpqevp* 05BR026 ENSG00000124422.12 ENSG00000154229.12 -/- +/+ chr17:21000393 chr17:66346437 3'UTR intron inversion 2 4 2 159 6 medium stop-codon . Ubiquitin_carboxyl-terminal_hydrolase(100%),Zn-finger_in_ubiquitin-hydrolases_and_other_protein(100%)|C2_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000124422.12 ENSG00000154229.12 ENST00000537526.6 . upstream upstream . ^(ATGGCGCCGGGTTGGCCCTCACTATCAGCGGGCTCCCGACAGGAGGCGCCCCAGCTTGCGGCCGGGGGCAGCGCCTACCAGGCAGTTGGCAGGCAGTTCCAGCCCCGGGCCACGGCACTGCAGGGCCCGAGCCAG___GCCAAGTCCTGTATCTGCCATGTCTGTGGCGTCCACCTCAACAGGCTGCATTCCTGCCTCTACTGTGTCTTCTTCGGCTGTTTCACAAAGAAGCATATTCACGAGCATGCGAAGGCGAAGCGGCACAACCTGG___CCATTGATCTGATGTACGGAGGCATCTACTGTTTTCTGTGCCAGGACTACATCTATGACAAAGACATGGAAATAATCGCCAAGGAGGAGCAGCGAAAAGCTTGGAAAATGCAAG___GCGTTGGAGAGAAGTTTTCAACTTGGGAACCAACCAAACGGGAGCTTGAACTGCTGAAGCACAACCCGAAAAGGAGAAAGATCACCTCGAACTGCACCATAG___GTCTGCGTGGGCTGATCAACCTTGGGAACACATGCTTCATGAACTGCATCGTGCAGGCCCTGACCCACACGCCACTTCTGCGGGACTTCTTCCTGTCTGACAGGCACCGCTGTGAGATGCAGAGCCCCAGCTCCTGTCTGGTCTGTGAGATGTCCTCACTGTTTCAGGAG___TTTTACTCTGGACACCGGTCCCCTCACATCCCGTATAAGTTGCTGCACCTGGTGTGGACCCACGCGAGGCACCTAGCAGGCTACGAGCAGCAGGACGCCCACGAGTTCCTCATCGCGGCCCTGGACGTGCTCCACCGACACTGCAAAG___GTGATGACAATGGGAAGAAGGCCAACAACCCCAACCACTGCAACTGCATCATAGACCAGATCTTCACAGGCGGGTTGCAGTCAGACGTCACCTGCCAAGTCTGCCA___TGGAGTCTCCACCACCATCGACCCCTTCTGGGACATCAGCTTGGATCTCCCCGGCTCTTCCACCCCATTCTGGCCCCTGAGCCCAGGGAGCGAGGGCAACGTGGTAAACGGGGAAAGCCACGTGTCGGGAACCACCACGCTCACGGACTGCCTGCGACG___ATTCACCAGACCAGAGCACTTGGGCAGCAGCGCCAAGATCAAGTGCAGCGGTTGCCATAGCTACCAGGAGTCCACAAAGCAGCTCACTATGAAGAAACTGCCCATCGTAGCCTGTTTTCATCTCAAA___CGATTTGAACACTCAGCCAAGCTGCGGCGGAAGATCACCACGTATGTGTCCTTCCCCCTGGAGCTGGACATGACCCCTTTCATGGCCTCCAG___CAAAGAGAGCAGGATGAATGGACAGTACCAGCAGCCCACGGACAGTCTCAACAATGACAACAA___GTATTCCCTGTTTGCTGTTGTTAACCATCAAGGGACCTTGGAGAGTGGCCACTACACCAGCTTTATCCGGCAGCACAAAGACCAGTGGTTCAAGTGTGACGATGCCATCATCACCAAGGCCAGCATCAAGGACGTCCTGGACAGCGAAGG___GTACTTGCTGTTCTATCACAAACAGTTCCTGGAATACGAGTAGCCTTATCTGCAGCTGGTCAGAAAAACAAAGGCAATGCATTGGCAAGCCTCACAAAGTGATCCTCCCTGGCCCCCCCCTCCCCCAAGTCTCCCGCCGCCTCCCCGGCCTGGTGACACCACCTCCCATGCAGATGTGGCCCCTCTGCACCTGGGACCCATCGGGTCGGGATGGACCACACGGACGGGGAGGCTCCTGGAGCTGCTTTGAAGATGGATGAGATGAGGGGTGTGCTCTGGGTGGGAGGAGCAGCGTACACCCGTCACCAGAACATCTCTTGTGTCATGACATGGGGGTGCAACGGGGGCCTCACAGCACAGAGTGACCGCTGCCTGGCGTTCCCCAGCACTCGGTGTGGAAAGGCCCCTACCTGCTGTAAGATTATGGGTCCATGAAAGCAGTAAGCTGGACACAGAGGTGTAGTGTGCGGGACAGAGGGCCTTGCAGATGCCTTTCTGTTGGTGTTTTAGTGTTAAAATACGGAGAGTATGGAACTCTTCACCTCCATTTTCTCAGCGGCTGTGAAGCAGCCTCCTAGCTTCGGAAGTACGGACACTACGTCGCGTTTTCAAGCGTGTCTGTTCTGCAGGTAACAGCATCAAGCTGCACGTGGAAGCATCTCGCGGTTTTCTAGAAACAGGCATTTTCTTATCCCTCTCCCGCTCCTTTTTCCACAAAGGTGAATTTCATAAATGTAATACTAGTAAAGTGAATGAATTACTGAGTTTATACAGAAATTTAGGTAACTTCTCCTTTAGTCTCAAGAGCGAGTCTTGCTTTTTAATGGGTGCCGTTTATGTTGCTGCCCGCCCTGTGTGCCTGGCTCCTCTGGGTGCCTTGGTGTCTGCTGGTGGCTGGCAGTGGGCGCAGCGGAGGAGAGTTGTGCTGCAGCTCATACGGTGTGTCTGTCATCTCAGTCTGGAGTAAATGCAGTGTCTGCCGGTGTCTGATGGGTTCTGTCCCTCGTATTTTCTTTGCCTTCTATCCCATTGCCTGGCTACCGCTGCCTGGCAGCCAAGGGTGTTGGTCGCGAAGCTGGAGTGGCCTCTGGTGGAGCCTGCATCTTGTCTCGTCTGCCTCTGCTTTACATTTGGTGTACTTTCGGGCGTGGTGGCAGTAAAATGACACCGTGATTGAGCTTGTCAGCAGAGCTGAAAGAGAAAGTAGAAGGATGTGCATTGTTTCTTGTAAGATATCTTGCATGTATCTGTGTATTCAAATTCAAACAGAGATGGTTTGTCCATTTGTCCACTGAGAAATTAGAAACTAGGGACAAGGGGGAGGAAAAGTACTGAAATACAGTTTATGAAGCAAGTGTGTCTCGGGCTGTGCTTGTCCCAGGAGCCCCAGCAGCATCTGAACTGAGGCTTCTTCAGTCCTGCAGGAACAGGATCATCTGTCTCAGCGGTGGGCAGATGTTTTCATAGACAGCCAGGGAGTAAACACTGTTGGCTCTGTGGGCTGTATGGTCTCTGCCATAAATAGTACAGAGATGTGGCTGTGTCTAGTACAACTTTTAGACACAGAAATCTGAATGACATATATTGTTCTGTGTCAAGAAACTTAGATTTTTTTTTTAACTATTTAAAAACGTGAAACCTATTCTTAGCTCACAGGCCATGGAGAAGCTGGTGGGGACCAGACCCAGCTCCTTAGCTGGCTGGGCTGGGGAGGGGGTAGTGACAGTGGCAGCTGCTACTCACTGCTCAGTGTGGAAAACACAGGACTTGGCAATCACAGCCCGCAGAACCATCATGTGTGGCAGAAGCCTGAGGGATGCGGTTTCTTGCCCACGTGCTCTGTTCATTTTCTGTTGTTTTTCTGCACTTAAAGAATTCACATGGAAGCATGTTTTATAAAATGAATTACCAGAGAAACAGAGATGGGCCGAGATTTTCAGAAATGGTCCCATGTGACCAAGTTCTGCTGTTTGGGTGACAGTGCTTTGAAGATCTCCTTTGAGGATGTGCAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTGTTGCCCAGGCTGGAGTGAGTGGCACAGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAGTTCTCGTGCCGCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCTCAAACTCCTGACCTCAGGCGATCCACCCACCTCAGCGTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTATGAGTGGTCTTTTAATTAGGAACAAATCTAATGGAAAGGAGAGTTGACTGAAGTTGGCCCACAGGATTGTGAGCTGGGCAGTGCCTTCATGAAGGCTTGCCACCTTGGGACGCCCCAGTTTACTGGGGTGTCTTGCGGAGTGCAGAAGGCTTTCTGGCAGCTGCCTGGGTTTGGCCAGACCCTGCCTCCCCTCCCGCCGGCCAACCCCTAGTCCCCTTCCTGTCTCCACTTGCATTCAGGGGTGGCTGCTGTTCTGAGAACATTAGAACTGGGAAGAGA)GATGGAGTCACATGGATTTTTGGTGGGCATTATTCTgAACTTTCGTATCCAAGTTAGTCCCCCTTATTCCACTGTGGCATTGCCGTTCTAAGCAGTTACCTGATGCC|GAGTCTTGCTATATTGCCCGGGATGGACTTTTGAACTCTTGGGCTCAAGCTTCTTGCTTCAGCCTCCCAAGTGGTTGGTTTTACAGGTTTGCGCCACTGTGCCTGGCTGTTGGGTGGATTTTAGTATGAAAACT . 05BR026 ENSG00000048649.13 ENSG00000256347.1(1057),ENSG00000171631.14(13581) -/- ./- chr11:77764598 chr11:73250924 CDS/splice-site intergenic deletion 2 2 1 448 7 high out-of-frame . . . . ENSG00000048649.13 . ENST00000308488.10 . upstream downstream . ^(TTGTTTTCATTCCCCCTGTCACACGAGGCAGTGGCAAGCCCGAAGGGGAGGAGAGAAGGGGGCGGAAAGAGGGCGGAAAGTGAAAGGCGCCGAGGGCCGCTCTGTCTCCCGTCTGACTCGGTTCTCGACTGCTCCGGGCCGCCGATGTATTGTGGGATCGCGGAGCCGTCCCTGAGACGCTGGGATCCGCAGAGGAGCCCACTTGAGAGCGCCTCCTGTCGTCTGTAAGGTTGCCTTGCCATCCCTCGGCACCACAACTTCCCCCGCCCCCCCATCGCCTCCTCCTCCATCCTCCAGTTCAAAATGGCGACGGCGGCGGCAGCGGCGGCGGTGATGGCTCCTCCGGGCTGCCCGGGTTCGTGCCCCAACTTCGCCGTAGTCTGCTCCTTCTTGGAGCGCTACGGGCCGCTGCTAGACCTGCCTGAGTTGCC)GTTCCCTGAGCTGGAGCGGGTGCTGCAGGCGCCGCCGCCGGACGTCGGCAACGGAGAAG___TACCAAAAGAATTGGTGGAGCTCCATTTGAAGCTGATGAGGAAAATTGGCAAATCTGTTACTGCAGACAGATGGGAAAAATATTTGATCAAG|GAACTGGCTCACAGGATTATGGAATCTGAGAAGTCTCATGATCTACTGTCTGTCTGTAAATTGGAAAACCAGGAAAGCTGTTGGTGTCATTTAGGCCAAGTCTGAAGGCCCAAGGACCAGAACCCCAATTTCCAAGGGCAGGAGAAG___GAAAGGAATGTGCCGGGCACTGATGGGCACGGAGGATAAAGCAGTG MATAAAAAAVMAPPGCPGSCPNFAVVCSFLERYGPLLDLPELPFPELERVLQAPPPDVGNGEVPKELVELHLKLMRKIGKSVTADRWEKYLIK|elahrimesekshdllsvcklenqescwchlgqv* 05BR026 ENSG00000198382.9 ENSG00000255362.1(81759),ENSG00000137492.8(52172) +/+ ./- chr11:76065788 chr11:76297784 CDS/splice-site intergenic inversion 1 3 0 220 12 high out-of-frame . Vacuolar_sorting_38_and_autophagy-related_subunit_14(100%)| . . ENSG00000198382.9 . ENST00000356136.8 . downstream downstream mismappers(4) ^(GGTAATATGGCTCTTCCTTAGCCAGCGGCGGCAACGGCGGCAGCGGCGGCAGCGGCGGCGGCTACTGTCTGGGCTGAGCAGTAGTGCCTCTCGGGTGGCGGGTTTCTAGGCTGCAGGGGCTTGGTAGGTGGTGGCAAGGGGGCGGCGGCGGATGCCGGAAGAGTGCCCGCCCCGCCGCTTGGCGGCCCCTGGATCGAGATGAGCGCCTCCGCGTCGGTCGGGGGCCCCGTCCCCCAGCCACCCCCGGGCCCGGCCGCTGCTCTGCCTCCCGGTTCTGCCGCGCGGGCCCTGCATGTGGAGCTGCCGTCTCAGCAG___CGGCGTCTTCGACATCTTCGGAACATTGCTGCCCGGAACATTGTTAATAGAAATGGCCATCAGCTCCTTGATACCTACTTTACACTTCACTTGTGTAGTACTGAAAAGATATATAAAG___AATTTTATAGAAGTGAAGTGATTAAGAATTCCTTG___AATCCCACGTGGCGAAGTCTCGATTTTGGAATTATGCCAGACCGTCTTGATACATCTGTGTCTTGTTTCGTGGTGAAGATATGGGGTGGAAAGGAGAACATCTACCAGCTGTTGATTGAATGGAAAGTCTGTTTGGATGGGCTGAAATACTTGGGTCAGCAG___ATTCATGCCCGAAACCAAAATGAAATAATTTTTGGGCTGAATGATGGATACTATGGTGCTCCATTTGAACATAAG___GGTTATTCAAATGCTCAGAAGACTATTCTTCTGCAGGTGGATCAGAACTGTGTTCGCAATTCTTACGATGTCTTCTCTTTGCTACG___GCTTCATAGAGCCCAGTGTGCAATTAAACAGACTCAGGTAACTGTTCAGAAAATTGGAAAGGAAATTGAAGAAAAACTAAGACTCACATCTACAAGCAATGAACTG___AAAAAAAAAAGTGAATGCCTGCAGTTAAAAATTTTGGTGCTTCAGAATGAACTGGAACGGCAGAAGAAAGCTTTGGGACGGGAGGTGGCATTACTGCATAAGCAACAAATTGCATTACAAGACAAAG___GAAGTGCATTTTCAGCTGAGCACCTCAAACTTCAACTCCAGAAGGAATCCCTAAATGAGCTGAGGAAGGAGTGCACTGCAAAAAG___AGAACTCTTCTTGAAGACTAATGCTCAGTTGACAATTCGTTGCAGGCAGTTACTCTCTGAGCTTTCCTACATTTACCCTATTGATTTG___AATGAACATAAGGATTACTTTGTATGCGGTGTCAAGTTGCCTAATTCTGAGGACTTCCAAG___CAAAAGATGATGGAAGCATTGCTGTTGCCCTTGGTTATACTGCACATCTGGTCTCCATGATTTCCTTTTTCCTACAAGTGCCCCTCAGATATCCTATAATTCATAAGGGGTCTAGAT)CAACAATCAAAGACAATATCAATGACAAACTGACGGAAAAGGAGAGAGA___GTTTCCACTGTATCCAAAAGGAGGGGAGAAGTTGCAGTTTGATTATGGTGTCTATCTTCTGAACAAAAATATAGCACAG|GACACGAACCAAGACTCAGAGAGGTGAAGAGACTGGAAGAACAAGGTAGCCCTGGGGACGAGAAAGAGGAGGAGAAAGAAATGACCCAGGACAGGCTGTTCTGGGGACCACCCCCATCCCGACTACAGGGGGAGGCTTTTGTACCCAAGAA-TTGTATCCGTGACTGAGGATACAATTTATATCCCACCTCCACCCTTTATAT MSASASVGGPVPQPPPGPAAALPPGSAARALHVELPSQQRRLRHLRNIAARNIVNRNGHQLLDTYFTLHLCSTEKIYKEFYRSEVIKNSLNPTWRSLDFGIMPDRLDTSVSCFVVKIWGGKENIYQLLIEWKVCLDGLKYLGQQIHARNQNEIIFGLNDGYYGAPFEHKGYSNAQKTILLQVDQNCVRNSYDVFSLLRLHRAQCAIKQTQVTVQKIGKEIEEKLRLTSTSNELKKKSECLQLKILVLQNELERQKKALGREVALLHKQQIALQDKGSAFSAEHLKLQLQKESLNELRKECTAKRELFLKTNAQLTIRCRQLLSELSYIYPIDLNEHKDYFVCGVKLPNSEDFQAKDDGSIAVALGYTAHLVSMISFFLQVPLRYPIIHKGSRSTIKDNINDKLTEKEREFPLYPKGGEKLQFDYGVYLLNKNIAQ|dtnqdser* 05BR026 ENSG00000137513.10 ENSG00000260348.1 -/- -/- chr11:78559539 chr11:69909507 CDS/splice-site exon/splice-site deletion 3 1 0 97 12 high out-of-frame . OB-fold_nucleic_acid_binding_domain(100%),tRNA_synthetases_class_II_(D__K_and_N)_(100%)| . . ENSG00000137513.10 ENSG00000260348.1 ENST00000281038.10 ENST00000563932.1 upstream downstream duplicates(1) ^(GTAGCGTGATGACGTAAGCGGCGTTGGCGTGGTGTGGTAGGAGTGGTTGCGCGTGTTGCGGCCCGGGTTCTGTTCGTAGGTTTACAATTGTCGCGGGTAGTGGGGCGCCCCAGCTGCCAACTGCACGTGGTTTCTTTCTGGCGTTTGCCTAGTGTCCTGTCCATTCCGCCCCGTTGGGAAGTGGGAAGCGGAGAGGTTCTGTGGGGACAGAGCTGGGAGTCCTGAAGGAGAAAGCGCGCAGCCGAGGGGCTCTGGAGTGCCTTAGAGCAGAGCTGCGGCCGCGGAAGGGGAGCAGCTGAGAAAGGAGGGCCGCTGCAGGCGGGGTTCGAACCGTGGGGTCTGGGCTGCTCCCGCGGAGGGCCTGGGCGGACGCGGGATGCTGGGGGTCCGCTGCCTGCTGCGGTCCGTGCGCTTCTGTTCCTCCGCCCCCTTCCCCAAGCACAAACCTTCAGCCAAACTGAGCGTGCGGGACGCTCTCGGGGCTCAGAACGCGAGTGGGGAGCGCATTAAGATCCAG___GGATGGATTCGTTCTGTCCGATCCCAGAAGGAAGTCTTGTTCCTGCATGTAAATGATGGGTCATCTTTGGAAAGCCTTCAGGTTGTTGCAGATTCAGGCCTTGACAGTAG___AGAATTAAATTTTGGGAGTTCTGTGGAAGTACAAGGGCAGCTGATAAAAAGTCCATCCAAAAGGCAAAATGTGGAACTGAAGGCAGAAAAAATTAAAGTTATTGGAAATTGTGATGCCAAG___GATTTCCCC)ATCAAATATAAAGAGAGGCATCCTCTGGAGTAcCTGCGACAATATCCTCACTTTAGGTGTAGGACTAACGTTCTGGGTTCTATATTGAGGATTCGCAGTGAAGCGACAGCTGCTATTCATTCTTTCTTTAAG___GACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAA|GTGCACTGCTGGACAACTGCACCCGGTCCCACTCTGTCACTGACCAGCAGCGTGACGTGGGCAGTGTCTTCATCTCTCGTGCCTCAGTTTCCTCCTCTGTTAGATGGGGGTAGTGCTGCTACCTCCCTCCCTCCTGGAAGGGCGCTGACAAGGGAGCTGAGGTTCAGGAATCTCTCATGGTGACCCAGAGAGGAGCTGGCG(TCCAACAGCACGTGTGTCCACTTTTTGTGACACTTACCTGTGCCACTGCAGGTCAGGGGCTTGGCCCCGTGCACAGTAAGTGCTTACAGTTAGCATCATTATTCAGGGTGGACTATGAGTGCT)$ MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSGLDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLGSILRIRSEATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLE|vhcwttapgptlsltssvtwavssslvpqfpplldggsaatslppgraltrelrfrnlsw* 05BR026 ENSG00000131748.16 ENSG00000108349.17 +/+ +/- chr17:39661085 chr17:40158053 CDS/splice-site intron inversion/3'-3' 2 2 0 159 15 high out-of-frame . Cholesterol-capturing_domain(100%),START_domain(100%)| . . ENSG00000131748.16 ENSG00000108349.17 ENST00000336308.10 . downstream downstream duplicates(2) ^(CTTCTTCCGCTCTGAGGCGCTACTGAGGCCGCGGAGCCGGACTGCGGTTGGGGCGGGAAGAGCCGGGGCCGTGGCTGACATGGAGCAG___CCCTGCTGCTGAGGCCGCGCCCTCCCCGCCCTGAGGTGGGGGCCCACCAGGATGAGCAAGCTGCCCAGGGAGCTGACCCGAGACTTGGAGCGCAGCCTGCCTGCCGTGGCCTCCCTGGGCTCCTCACTGTCCCACAGCCAGAGCCTCTCCTCGCACCTCCTTCCGCCGCCTGAGAAGCGAAGGGCCATCTCTGATGTCCGCCGCACCTTCTGTCTCTTCGTCACCTTCGACCTGCTCTTCATCTCCCTGCTCTGGATCATCGAACTGAAT___ACCAACACAGGCATCCGTAAGAACTTGGAGCAGGAGATCATCCAGTACAACTTTAAAACTTCCTTCTTCGACATCTTT___GTCCTGGCCTTCTTCCGCTTCTCTGGACTGCTCCTAGGCTATGCCGTGCTGCGGCTCCGGCACTGGTGGGTGATTGCG___GTCACGACGCTGGTGTCCAGTGCATTCCTCATTGTCAAGGTCATCCTCTCTGAG___CTGCTCAGCAAAGGGGCATTTGGCTACCTGCTCCCCATCGTCTCTTTTGTCCTCGCCTGGTTGGAGACCTGGTTCCTTGACTTCAAAGTCCTACCCCAGGAAGCTGAAGAGGAGCGAT___GGTATCTTGCCGCCCAGGTTGCTGTTGCCCGTGGACCCCTGCTGTTCTCCGGTGCTCTGTCCGAGGGACAGTTCTATTCACCCCCAGAATCCTTTGCAG___GGTCTGACAATGAATCAGATGAAGAAGTTGCTGGGAAGAAAAGTTTCTCTGCTCAG___GAGCGGGAGTACATCCGCCAGGGGAAGGAGGCCACGGCAGTGGTGGACCAGATCTTGGCCCAGGAAGAGAACTGGAAGTTTGAGAAGAATAAT___GAATATGGGGACACCGTGTACACCATTGAAGTTCCCTTTCACGGCAAGACGTTTATCCTGAAG___ACCTTCCTGCCCTGTCCTGCGGAGCTCGTGTACCAGGAGGTGATCCTGCAGCCCGAGAGGATGGTGCTGTGGAACAAGACAGTGACTGCCTGCCAG___ATCCTGCAGCGAGTGGAAGACAACACCCTCATCTCCTATGACGTGTCTGCAGGGGCTGCGGGCGGCGTGGTCTCCCCAAG___GGACTTCGTGAATGTCCGGCG)CATTGAGCGGCGCAGGGACCGATACTTGTCATCAGGGATCGCCACCTCACACAGTGCCAAGCCCCCGACGCACAAATATGTCCG|AAGTTGCAGCAAGTATGCCTGCCTCTCCTTCCACTGCCTCTGTCACCCAAGGCAGCAAGATCAACCCCTCCTCTTCTGAAGTCTACTCAATGCAAAGATGATGAAGACCTTTATGATGATCCACTTCCACTGAAT MSKLPRELTRDLERSLPAVASLGSSLSHSQSLSSHLLPPPEKRRAISDVRRTFCLFVTFDLLFISLLWIIELNTNTGIRKNLEQEIIQYNFKTSFFDIFVLAFFRFSGLLLGYAVLRLRHWWVIAVTTLVSSAFLIVKVILSELLSKGAFGYLLPIVSFVLAWLETWFLDFKVLPQEAEEERWYLAAQVAVARGPLLFSGALSEGQFYSPPESFAGSDNESDEEVAGKKSFSAQEREYIRQGKEATAVVDQILAQEENWKFEKNNEYGDTVYTIEVPFHGKTFILKTFLPCPAELVYQEVILQPERMVLWNKTVTACQILQRVEDNTLISYDVSAGAAGGVVSPRDFVNVRRIERRRDRYLSSGIATSHSAKPPTHKYVr|scskyaclsfhclchprqqdqpllf* 05BR026 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 1 2 0 95 9 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAA)CTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAG(CCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 05BR026 ENSG00000198382.9 ENSG00000068097.15 +/+ -/+ chr11:76016980 chr17:60070202 CDS/splice-site intron translocation/5'-5' 2 1 0 278 4 high out-of-frame . Vacuolar_sorting_38_and_autophagy-related_subunit_14(100%)| . . ENSG00000198382.9 ENSG00000068097.15 ENST00000356136.8 . downstream upstream . ^(GGTAATATGGCTCTTCCTTAGCCAGCGGCGGCAACGGCGGCAGCGGCGGCAGCGGCGGCGGCTACTGTCTGGGCTGAGCAGTAGTGCCTCTCGGGTGGCGGGTTTCTAGGCTGCAGGGGCTTGGTAGGTGGTGGCAAGGGGGCGGCGGCGGATGCCGGAAGAGTGCCCGCCCCGCCGCTTGGCGGCCCCTGGATCGAGATGAGCGCCTCCGCGTCGGTCGGGGGCCCCGTCCCCCAGCCACCCCCGGGCCCGGCCGCTGCTCTGCCTCCCGGTTCTGCCGCGCGGGCCCTGCATGTGGAGCTGCCGTCTCAGCAG___CGGCGTCTTCGACATCTTCGGAACATTGCTGCCCGGAACATTGTTAATAGAAATGGCCATCAGCTCCTTGATACCTACTTTACACTTCACTTGTGTAGTACTGAAAAGATATATAAAG___AATTTTATAGAAGTGAAGTGATTAAGAATTCCTTG___AATCCCACGTGGCGAAGTCTCGATTTTGGAATTATGCCAGACCGTCTTGATACATCTGTGTCTTGTTTCGTGGTGAAGATATGGGGTGGAAAGGAGAACATCTACCAGCTGTTGATTGAATGGAAAGTCTGTTTGGATGGGCTGAAATACTTGGGTCAGCAG___ATTCATGCCCGAAACCAAAATGAAATAATTTTTGGGCTGAATGATGGATACTATGGTGCTCCATTTGAACATAAG___GGTTATTCAAATGCTCAGAAGACTATTCTTCTGCAGGTGGATCAGAACTGTGTTCGCAATTCTTACGATGTCTTCTCTTTGCTACG___GCTTCATAGAGCCCAGTGTGCAATTAAACAGACTCAGGTAACTGTTCAGAAAATTGGAAAGGAAATTGAAGAAAAACTAAGACTCACATCTACAAGCAATGAACTG___AAAAAAAAAAGTGAATGCCTGCAGTTAAAAATTTTGGTGCTTCAGAATGAACTGGAACGGCAGAAGAAAGCTTTGGGACGGGAGGTGGCATTACTGCATAAGCAACAAATTGCATTACAAGACAAAG___GAAGTGCATTTTCAGCTGAGCACCTCAAACTTCAACTCCAGAAGGAATCCCTAAATGAGCTGAGGAAGGAGTGCACTGCAAAAAG___AGAACTCTTCTTGAAGACTAATGCTCAGTTGACAATTCGTTGCAGGCAGTTACTCTCTGAGCTTTCCTACATTTACCCT)ATTGATTTG___AATGAACATAAGGATTACTTTGTATGCGGTGTCAAGTTGCCTAATTCTGAGGACTTCCAAG___CAAAAGATGATGGAAGCATTGCTGTTGCCCTTGGTTATACTGCACATCTGGTCTCCATGATTTCCTTTTTCCTACAAGTGCCCCTCAGATATCCTATAATTCATAAGGGGTCTAGATCAACAATCAAAGACAATATCAATGACAAACTGACGGAAAAGGAGAGAGA|CTATCTCTCTATTTGATGTGGGAGCAAGAGAATGCCACAAGGAAAGAATTACTTCTTACTTTGCTGGCTGAAGAAGCTGGGTCCCCAGAGATGCTGGCCTGACTTTCCGACTGACTGGCACGCTCGGAAGCTGCCCATTGACACACGTCTTGGTTGGCCTGTCTACTACTTGGAGGAG MSASASVGGPVPQPPPGPAAALPPGSAARALHVELPSQQRRLRHLRNIAARNIVNRNGHQLLDTYFTLHLCSTEKIYKEFYRSEVIKNSLNPTWRSLDFGIMPDRLDTSVSCFVVKIWGGKENIYQLLIEWKVCLDGLKYLGQQIHARNQNEIIFGLNDGYYGAPFEHKGYSNAQKTILLQVDQNCVRNSYDVFSLLRLHRAQCAIKQTQVTVQKIGKEIEEKLRLTSTSNELKKKSECLQLKILVLQNELERQKKALGREVALLHKQQIALQDKGSAFSAEHLKLQLQKESLNELRKECTAKRELFLKTNAQLTIRCRQLLSELSYIYPIDLNEHKDYFVCGVKLPNSEDFQAKDDGSIAVALGYTAHLVSMISFFLQVPLRYPIIHKGSRSTIKDNINDKLTEKERd|ylsi* 05BR026 ENSG00000224505.2 ENSG00000167916.5 -/- -/+ chr17:45156073 chr17:40698244 intron CDS inversion/5'-5' 7 11 1 28 56 medium . . . . . ENSG00000224505.2 ENSG00000167916.5 . . upstream upstream inconsistently_clipped(1),mismatches(6) GGCTGGAGTACGGTGGCGCGATCTCGGCTCACTACAACCTCTGCCTCCCgGGTTCAAGCAATTGTCCTGCCTC?GCCTaCCGAGTAGCTGGGATTACAGATACCCGCCACGATGCCTGGCTAATTTTTGTATTTTTA?TAGAGACGAGATTTTGCCATGTTGGCCAGGCTGGTTTCGAACTTTT|ACTTTCACCTCAGAAATACTGCTGACTTGAGACGAGACAACCTTGCCATCCACCAACTCCTCTACGATAGTCTTAGTCACTCTAGTCTTGCTTGAATCTGAAAATCATGGGATTGCAATGTCAGTCTGGAAACTCTCACAGAAACACAGAGCAAGAGAAATTCAATCACATGCATTCAACGTGTTCTGTCTGGGTAAGATTATGTAAAAAATAGCGG...___TGAACCTCTTGGCAAAGAAAGAAAACTGCATTTGCTTAACTCCCTGTTGGAAAATGTGAAAAGCTATTTGCACATACCATGGCCAGTTGGGACTGAAGCTCAATTTCCA . 05BR026 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 10 5 0 186 35 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream low_entropy(1) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCATCGACA)GGGAAAACTTCGTGGACATTGTTGATGCCAAG___TTGAAGATTCCTGTCTCTGGATCCAAATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGGCCCCTTTCAGAG___GTGGCACCTTGACGAGGTCTTTTTAGAGCTCAAGGATGGTCAGCAGATTCCTGTGTTCAAGCTCAGTGGGGAAAACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCAcAGTGGACCTTTATTGTCTCCTGAGCACCCATTCTTTGTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCTCTTCCTCCAGAGTTGGAGCCTATGACACTGATGACACTGGCATGGAAAGCCAAAGCCCTACACCAACCAGC . 05BR026 ENSG00000110092.4 ENSG00000137474.22 +/+ +/+ chr11:69643991 chr11:77155907 CDS/splice-site CDS/splice-site deletion 0 9 0 5197 35 medium out-of-frame . Cyclin__C-terminal_domain(100%),Cyclin__N-terminal_domain(100%)|FERM_central_domain(100%),IQ_calmodulin-binding_motif(100%),MyTH4_domain(100%),Myosin_head_(motor_domain)(100%) . . ENSG00000110092.4 ENSG00000137474.22 ENST00000227507.3 ENST00000409709.9 downstream upstream . ^(AGAGGGCTGTCGGCGCAGTAGCAGCGAGCAGCAGAGTCCGCACGCTCCGGCGAGGGGCAGAAGAGCGCGAGGGAGCGCGGGGCAGCAGAAGCGAGAGCCGAGCGCGGACCCAGCCAGGACCCACAGCCCTCCCCAGCTGCCCAGGAAGAGCCCCAGCCATGGAACACCAGCTCCTGTGCTGCGAAGTGGAAACCATCCGCCGCGCGTACCCCGATGCCAACCTCCTCAACGACCGGGTGCTGCGGGCCATGCTGAAGGCGGAGGAGACCTGCGCGCCCTCGGTGTCCTACTTCAAATGTGTGCAGAAGGAGGTCCTGCCGTCCATGCGGAAGATCGTCGCCACCTGGATGCTGGAG___GTCTGCGAGGAACAGAAGTGCGAGGAGGAGGTCTTCCCGCTGGCCATGAACTACCTGGACCGCTTCCTGTCGCTGGAGCCCGTGAAAAAGAGCCGCCTGCAGCTGCTGGGGGCCACTTGCATGTTCGTGGCCTCTAAGATGAAGGAGACCATCCCCCTGACGGCCGAGAAGCTGTGCATCTACACCGACAACTCCATCCGGCCCGAGGAGCTGCTG___CAAATGGAGCTGCTCCTGGTGAACAAGCTCAAGTGGAACCTGGCCGCAATGACCCCGCACGATTTCATTGAACACTT)CCTCTCCAAAATGCCAGAGGCGGAGGAGAACAAACAGATCATCCGCAAACACGCGCAGACCTTCGTTGCCCTCTGTGCCACAG|ACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAG___TGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCcGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAG(___CATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAG___GCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATG___GGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGG___CACGCACATTTGAAAACCTGGATGCCTGTGAGGTTCTCTTCTCCCCATCGCTGGCCACAGCTGCATCCCTGCTTGAG___GTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAG___GGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAG___CTTTGAGCAGCTCTGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAG___GGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAG___GCTTCCTGGAGAAGAACCGAGACACCCTGCATGGGGACATTATCCAGCTGGTCCACTCCTCCAGGAACAAGTTCATCAAGCAGATCTTCCAGGCCGATGTCGCCATG___GGCGCCGAGACCAGGAAGCGCTCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATG___CTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAGCTTCGTAGAGTTTGTGGAGCGGTACCGTGTGCTGCTGCCAGGTGTGAAGCCGGCCTACAAGCAG___GGCGACCTCCGCGGGACTTGCCAGCGCATGGCTGAGGCTGTGCTGGGCACCCACGATGACTGGCAGATAGGCAAAACCAAGATCTTTCTGAAG___GACCACCATGACATGCTGCTGGAAGTGGAGCGGGACAAAGCCATCACCGACAGAGTCATCCTCCTTCAGAAAGTCATCCGGGGATTCAAAGACAG___GTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTG___ATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAG___TATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAG___GAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAG___GACCTGGAGCGAGGGCGGAGGGAGATGGTGGAGGAGGACCTGGATGCAGCCCTGCCCCTGCCTGACGAGGATGAGGAGGACCTCTCTGAGTATAAATTTGCCAAGTTCGCGGCCACCTACTTCCAGGGGACAACCACGCACTCCTACACCCGGCGGCCACTCAAACAGCCACTGCTCTACCATGACGACGAGGGTGACCAGCTG___GCAGCCCTGGCGGTCTGGATCACCATCCTCCGCTTCATGGGGGACCTCCCTGAGCCCAAGTACCACACAGCCATGAGTGATGGCAGTGAGAAGATCCCTGTGATGACCAAGATTTATGAGACCCTGGGCAAGAAGACGTACAAGAGGGAGCTGCAGGCCCTGCAGGGCGAGGGCGAG___GCCCAGCTCCCCGAGGGCCAGAAGAAGAGCAGTGTGAGGCACAAGCTGGTGCATTTGACTCTGAAAAAGAAGTCCAAGCTCACAGAGGAG___GTGACCAAGAGGCTGCATGACGGGGAGTCCACAGTGCAGGGCAACAGCATGCTGGAGGACCGGCCCACCTCCAACCTGGAGAAGCTGCACTTCATCATCGGCAATGGCATCCTGCGGCCAGCACTCCG___GGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAG___TACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAG___GCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAG___GTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAG___GAGGACGACCTGGCTGAGCTGGCCTCCCAGCAGTACTTTGTAGACTATGGCTCTGAGATGATCCTGGAGCGCCTCCTGAACCTCGTGCCCACCTACATCCCCGACCGCGAGATCACGCCCCTGAAGACGCTGGAGAAGTGGGCCCAGCTGGCCATCGCCGCCCACAAGAAG___GGGATTTATGCCCAGAGGAGAACTGATGCCCAGAAGGTCAAAGAGGATGTGGTCAGTTATGCCCGCTTCAAGTGGCCCTTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAG___GCCCCAGTCTCCCCAAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGAGATCATGGCCGTGTCCAGCAGCAG___GGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCG___CAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTGGACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACGGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGACAGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTG___GCCCTGGTCACCATGACTCCCGATCAGAGGCAGGACGTTGTCCGGCTCTTGCAGCTGCGAACGGCGGAGCCCGAGGTGCGTGCCAAGCCCTACACGCTGGAGGAGTTTTCCTATGACTACTTCAG___GCCCCCACCCAAGCACACGCTGAGCCGTGTCATGGTGTCCAAGGCCCGAGGCAAGGACCGGCTGTGGAGCCACACGCGGGAACCGCTCAAGCAGGCGCTGCTCAAGAAGCTCCTGGGCAGTGAGGAGCTCTCGCAGGAGGCCTGCCTGGCCTTCATTG___CTGTGCTCAAGTACATGGGCGACTACCCGTCCAAGAGGACACGCTCCGTCAACGAGCTCACCGACCAGATCTTTGAGGGTCCCCTGAAAGCCGAGCCCCTGAAGGACGAGGCATATGTGCAGATCCTGAAGCAGCTGACCGACAACCACATCAG___GTACAGCGAGGAGCGGGGTTGGGAGCTGCTCTGGCTGTGCACGGGCCTTTTCCCACCCAGCAACATCCTCCTGCCCCACGTGCAGCGCTTCCTGCAGTCCCGAAAGCACTGCCCACTCGCCATCGACTGCCTGCAACGGCTCCAGAAAGCCCTGAG___AAACGGGTCCCGGAAGTACCCTCCGCACCTGGTGGAGGTGGAGGCCATCCAGCACAAGACCACCCAGATTTTCCACAAAGTCTACTTCCCTGATGACACTGACGAG___GCCTTCGAAGTGGAGTCCAGCACCAAGGCCAAGGACTTCTGCCAGAACATCGCCACCAGGCTGCTCCTCAAGTCCTCAGAGGGATTCAGCCTCTTTGTCAAAATTGCAGACAAG___GTCCTCAGCGTTCCTGAGAATGACTTCTTCTTTGACTTTGTTCGACACTTGACAGACTGGATAAAGAAAGCTCGGCCCATCAAGGACG___GAATTGTGCCCTCACTCACCTACCAGGTGTTCTTCATGAAGAAGCTGTGGACCACCACGGTGCCAGGGAAGGATCCCATGGCCGATTCCATCTTCCACTATTACCAG___GAGTTGCCCAAGTATCTCCGAGGCTACCACAAGTGCACGCGGGAGGAGGTGCTGCAGCTGGGGGCGCTGATCTACAGGGTCAAGTTCGAGGAGGACAAGTCCTACTTCCCCAGCATCCCCAAGCTGCTGCGGGAGCTGGTGCCCCAGGACCTTATCCGGCAGGTCTCACCTGATGACTGGAAGCGG___TCCATCGTCGCCTACTTCAACAAGCACGCAGGGAAGTCCAAGGAGGAGGCCAAGCTGGCCTTCCTGAAGCTCATCTTCAAGTGGCCCACCTTTGGCTCAGCCTTCTTCGAGGTGAAG___CAAACTACGGAGCCAAACTTCCCTGAGATCCTCCTAATTGCCATCAACAAGTATGGGGTCAGCCTCATCGATCCCAAAACGAAG___GATATCCTCACCACTCATCCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGAACTTGGTGCGCGGGAGCAAACTGCTCTGCGAGACGTCACTG___GGCTACAAGATGGATGACCTCCTGACTTCCTACATTAGCCAGATGCTCACAGCCATGAGCAAACAGCGGGGCTCCAGGAGCGGCAAGTGAACAGTCACGGGGAGGTGCTGGTTCCATGCCTGCTCTCGAGGCAGCAGTGGGTTCAGGCCCATCAGCTACCCCTGCAGCTGGGGAAGACTTATGCCATCCCGGCAGCGAGGCTGGGCTGGCCAGCCACCACTGACTATACCAACTGGGCCTCTGATGTTCTTCCAGTGAGGCATCTCTCTGGGATGCAGAACTTCCCTCCATCCACCCCTCTGGCACCTGGGTTGGTCTAATCCTAGTTTGCTGTGGCCTTCCCGGTTGTGAGAGCCTGTGATCCTTAGATGTGTCTCCTGTTTCAGACCAGCCCCACCATGCAACTTCCTTTGACTTTCTGTGTACCACTGGGATAGAGGAATCAAGAGGACAATCTAGCTCTCCATACTTTGAACAACCAAATGTGCATTGAATACTCTGAAACCGAAGGGACTGGATCTGCAGGTGGGATGAGGGAGACAGACCACTTTTCTATATTGCAGTGTGAATGCTGGGCCCCTGCTCAAGTCTACCCTGATCACCTCAGGGCATAAAGCATGTTTCATTCTCTGGCC)$ MEHQLLCCEVETIRRAYPDANLLNDRVLRAMLKAEETCAPSVSYFKCVQKEVLPSMRKIVATWMLEVCEEQKCEEEVFPLAMNYLDRFLSLEPVKKSRLQLLGATCMFVASKMKETIPLTAEKLCIYTDNSIRPEELLQMELLLVNKLKWNLAAMTPHDFIEHFLSKMPEAEENKQIIRKHAQTFVALCAT|dvyglhpggceplpaalhllarahppvyqqedwgdapphlchc* 05BR026 ENSG00000108306.13 ENSG00000263870.1 -/- -/- chr17:39343180 chr17:28444454 CDS/splice-site intron deletion 0 4 0 19 26 medium out-of-frame . F-box-like(100%)| . . ENSG00000108306.13 ENSG00000263870.1 ENST00000264658.11 . upstream downstream duplicates(1),mismappers(3) ^(GGAGAGAGCCGAGCTAGCGACGAGCAGTCGTTGCGGCCGCCGGCGCCGCGGGAGGTGGTGGAGGCCTAGCCGGAGCCGAGAGGTCTCTTGTTCCCGTCCCACGGTCCCGGCGTCACCCCTCCGGCGCCCAGTCCCCGTCCCGGAACTCCCGGGCCTGTCCTGGGCCCCCGGTCTGTGCACTCCGCTCGCCGCAGCGCCCGGCCCGGGCCGCACCCGCCGGCCCCATGAGGAGGGACGTGAACGGAGTGACCAAGAGCAGGTTTGAG___)ATGTTCTCAAATAGTGATGAAGCTGTAATCAATAAAAAACTTCCCAAAGAACTCCTGTTACG|AGTCTCAGTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCAGTGCAACCTCTGCCTCCCAGGCTCAAGTGATGTTCAAGCAATTCTCTCTCATGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCGG MRRDVNGVTKSRFEMFSNSDEAVINKKLPKELLLr|vsvcrpgwsavapsqlsatsasqaqvmfkqfslmpqple* 05BR026 ENSG00000246174.9 ENSG00000213275.2(39250),ENSG00000260877.2(28406) +/+ ./+ chr11:78149093 chr11:69343057 exon/splice-site intergenic duplication 4 0 0 15 8 medium . . . . . ENSG00000246174.9 . ENST00000530261.2 . downstream upstream . ^(AGGCGTTTGTAGCCACTTTTAAGTTTTATCAGCTAGTTCATGCTTGCGTTGAAAGAGTGGTCGTTTGCGCTGGGTCATCACTGTGTAGTATTGGGGATACTTAGGTGAGAAAAAAACTTAACGCTAGAGACGTTCACGCACTAGTGGAGAAGCCAGGATTGTTGCCCTAGAGTTACAGTAGATAAAAGTACCTCAGAGAACTGCGGGGGCTCCCAACCTGGACGCTTGCACCGGAGTATTAAATCCAGCTAGAGAATGGCATGTGCAAAGATACAGAG___)CTACAGTCAAATGGGCAGCTGAAGATGATGATGATGATGATCTTGACACCGAGAAGCAGAAGACCAATGAAGATGACCAGACAGCAAAAAAGGATAAGTTAAAAGAAG___GGTCTCGCTCTGTATCCCAGGCTGGAGTTCAGTGGCACGATCTCCGCTCGCTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGATTACAG|GACAGGGGCTGGGTCCCAGGCCCCCAGCCTCATGCCATCGTCTGCAAAACAGCCAGGGCCGCGTGCTTCTGTCTGAAGGGC . 05BR026 ENSG00000131626.18 ENSG00000008838.20 +/+ -/- chr11:70272436 chr17:40053657 CDS/splice-site CDS/splice-site translocation 4 0 0 388 175 medium out-of-frame . |Mediator_complex_subunit_24_N-terminal(100%) . . ENSG00000131626.18 ENSG00000008838.20 ENST00000253925.11 ENST00000394127.6 downstream downstream . ^(GCCGCGCAGCCGGGCCCGCTCCTCCTCCGCTCCGCCAGTGTCCGGCCGCGGGCCGGCCTTAGTGACTGGGGCGGCGGGCCCCGGGGCCGCGGCGTGGGGCGGGCAGGCGGACGCCGGCCGCGGGCTGCTTTCGTCGGCTCCCAAGCTCTCCCGGAGCGAGCAGCCGCCCGCGAGCCGCCGCGGAGCCTCCTCGCCCGCTCCCGCCGGCGAGCAAG___ATGATGTGCGAGGTGATGCCGACCATCAGCGAAGCAGAAGGCCCCCCTGGAGGAGGTGGAGGCC)ATGGTTCCGGCTCCCCTTCACAGCCAGATGCAGATTCACATTTTGAACAGTTGATGGTCTCCATGCTAGAAGAAAGGGACCGCCTTCTTGATACACTGAGAGAGACTCAAGAAACGCTGGCCTTAACCCAGGGGAAGTTACACGAGGTTGGTCATGAAAGAGATTCCTTGCAGAGACAGCTCAACACGGCACTTCCACAG|CTCCATTTCTTTCACCTCAAAGCTGGCCGCCACCGCTGCCACCTGCTCAGAGTGAAATAATGAAGGTGGTCAACCTGAAGCAAGCCATTTTGCAAGCCTGGAAGGAGCG(CTGGAGTGACTACCAATGGGCAATCAACATGAAGAAATTCTTTCCTAAAGGAGCCACCTGGGATATTCTCAACCTGGCAG___ATGCGTTACTAGAGCAGGCCATGATTGGACCATCCCCCAATCCTCTCATCTTGTCCTACCTGAAGTATGCCATTAGTTCCCAG___TTTGATGACTTTTCTCGGGACCTGTGTGTCCAGGCATTGCTGGACATCATGGACATGTTTTGTGACCGTCTGAG___CTGTCACGGCAAAGCAGAGGAATGCATCGGACTGTGCCGAGCCCTTCTTAGCGCCCTCCACTGGCTGCTGCGCTGCACGGCAGCCTCTGCAGAGCGGCTGCGGGAGGGGCTGGAGGCCGGCACTCCAGCCGCTGGGGAGAAGCAGCTTGCCATGTGCCTTCAGCGCCTGGAGAAAACCCTCAGCAGCACCAAGAACCGGGCCCTGCTGCACATCGCCAAACTAGAGGAGGCCT___CTTCTTGGACTGCCATCGAGCATTCTCTCTTGAAACTTGGAGAGATCCTGGCCAATCTCAGCAACCCGCAGCTCCGGAGTCAGGCCGAGCAGTGTGGCACCCTCATTAGGAG___CATCCCCACGATGCTGTCTGTGCATGCGGAGCAGATGCACAAGACCGGCTTCCCCACTGTCCACGCCGTGATCCTGCTCGAGGGCACCATGAACCTGACAGGCGAGACGCAGTCCCTGGTGGAGCAGCTGACGATGGTGAAGCGCATGCAG___CATATCCCCACCCCACTTTTTGTCCTGGAGATCTGGAAAGCTTGCTTCGTGGGGCTCATTGAGTCTCCCGAGGGTACGGAGGAGCTCAAGTGGACAGCTTTCACTTTCCTCAAG___ATTCCACAGGTTTTGGTGAAGTTGAAGAAGTACTCTCATGGAGACAAG___GACTTCACTGAGGATGTCAACTGTGCTTTTGAGTTCCTGCTGAAGCTCACCCCCTTGTTGGACAAAGCTGACCAGCGCTGCAA___CTGTGACTGTACAAACTTCCTGCTCCAAGAATGTGGCAAGCAGGGGCTTCTGTCTGAGGCCAGCGTCAACAACCTTATGGCTAAGCG___CAAAGCGGACCGAGAGCACGCACCCCAGCAGAAATCGGGAGAGAATGCCAACATCCAGCCCAACATCCAGCTGATCCTCCGGGCGGAGCCCACTGTCACAAACATCCTCAAG___ACGATGGATGCAGACCACTCTAAGTCACCGGAGGGACTGCTGGGAGTCCTGGGCCACATGCTGTCCGGGAAGAGTCTGGACTTGCTGCTGGCTGCCGCCGCCGCCACTGGAAAGCTGAAATCCTTCGCCCGGAAATTCATCAA___TTTGAATGAATTCACAACCTATGGCAGCGAAGAAAGCA___CCAAACCGGCCTCCGTCCGGGCCCTGCTGTTTGACATCTCCTTCCTCATGCTGTGCCATGTGGCCCAGACCTATGGTTCAGAG___GTGATTCTGTCCGAGTCGCGCACAGGAGCTGAGGTGCCCTTCTTCGAGACCTGGATGCAGACCTGCATGCCTGAGGAGGGCAAGATCCTGAACCCTGACCACCCCTGCTTCCGCCCCGACTCCACCAAAGTGGAGTCCCTGGTGGCCCTGCTCAACAACTCCTCGGAGATGAAGCTAGT___GCAGATGAAGTGGCATGAGGCCTGTCTCAGCATCTCAGCCGCCATCTTGGAAATCCTCAATGCCTGGGAGAATGGGGTCCTGGCCTTCGAGTCCATCCAG___AAAATCACTGATAACATCAAAGGGAAGGTATGCAGTCTGGCGGTGTGTGCTGTGGCTTGGCTTGTGGCCCACGTCCGGATGCTGGGGCTGGATGAGCGTGAGAAGTCGCTGCAGATGATCCGCCAGCTGGCAGGGCCACTGTTTAGTGAGAACACCCTGCAGTTCTACAATGAGAG___GGTGGTGATCATGAACTCGATCCTGGAGCGCATGTGTGCCGACGTGCTGCAGCAGACAGCCACGCAGATCAAGTTTCCCTCCACCGGGGTGGACACAATGCCCTACTGGAACCTGCTGCCCCCCAAGCGGCCCATCAAAGAGGTGCTGACGGACATTTTTGCCAAGGTGCTGGAGAAGGGCTGGGTGGACAGCCGCTCCATCCACATCTTTGACACCCTGCTGCACATGGGCGGCGTCTACTGGTTCTGCAACAACCTGATTAAG___GAGCTGCTGAAGGAGACGCGGAAGGAGCACACGCTGCGGGCAGTGGAGCTGCTCTACTCCATCTTCTGCCTGGACATGCAGCAAGTGACCCTGGTCCTGCTGGGCCACATCCTACCTGGCCTGCTCACTGACTCCTCCAAGTGGCACAGCCTCATGGACCCCCCGGGCACTGCTCTTGCCAA___GCTGGCCGTGTGGTGTGCCCTCAGTTCCTACTCCTCCCACAAGGGACAGGCGTCCACCCGCCAGAAGAAGAGACACCGCGAAGACATTGAG___GATTATATCAGCCTCTTCCCCCTGGACGATGTGCAGCCTTCGAAGTTGATGCGACTGCTGAGCTCTAATGAGGACGATGCCAACATCCTTTCGAGCCCCA___CAGACCGATCCATGAGCAGCTCCCTCTCAGCCTCTCAGCTCCACACGGTCAACATGCGGGACCCTCTGAACCGAGTCCTGG___CCAACCTGTTCCTGCTCATCTCCTCCATCCTGGGGTCTCGCACCGCTGGCCCCCACACCCAGTTCGTGCAGTGGTTCATGGAGGAGTGTGTGGACTGCCTGGAGCAGGGTGGCCGTGGCAGCGTCCTGCAGTTCATGCCCTTCACCACC___GTGTCGGAACTGGTGAAGGTGTCAGCCATGTCCAGCCCCAAGGTGGTTCTGGCCATCACGGACCTCAGCCTGCCCCTGGGCCGCCAGGTGGCTGCTAAAGCCATTGCTGCACTCTGAGGGGCTTGGCATGGCCGCAGTGGGGGCTGGGGACTGGCGCAGCCCCAGGCGCCTCCAAGGGAAGCAGTGAGGAAAGATGAGGCATCGTGCCTCACATCCGCTCCACATGGTGCAAGAGCCTCTAGCGGCTTCCAGTTCCCCGCTCCTGACTCCTGACCTCCAGGATGTCTCCCGGTTTCTTCTTTCAAAATTTCCTCTCCATCTGCTGGCACCTGAGGAGAGTGAGCAGCCTGGACCACAAGCCCAGTGGTCACCCCTGTGTGCGCCCGCCCCAGCCCAGGAGTAGTCTTACCTCTGAGGAACTTTCTAGATGCAAAGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTATTTTGTAATATGTGAGGGAAATCTACCTTCGTTCATGTATAAATAAAGCTCCTCGTGGC)$ MMCEVMPTISEAEGPPGGGGGHGSGSPSQPDADSHFEQLMVSMLEERDRLLDTLRETQETLALTQGKLHEVGHERDSLQRQLNTALPQ|lhffhlkagrhrchllrvk* 05BR026 ENSG00000131620.17 ENSG00000256568.2 +/+ +/+ chr11:70132079 chr11:73181172 CDS/splice-site exon/splice-site deletion 1 3 0 655 7 medium out-of-frame . Calcium-activated_chloride_channel(100%),Dimerisation_domain_of_Ca+-activated_chloride-channel__anoctamin(100%)| . . ENSG00000131620.17 ENSG00000256568.2 ENST00000355303.9 ENST00000660457.1 downstream upstream . ^(AAAGGCGGGCCGGCTGGCGTCCAAGTTCCTGACCAGGCGCGGGCCGGCCCGCGGGACCAGCAGCCGGGTGGCGGCGCGATCGGCCCCGAGAGGCTCAGGCGCCCCCCGCATCGAGCGCGCGGGCCGGGCGGGCCAGGGCGGCGGGCGGAGCGGGAGGCGGCCACGTCCCCGGCGGGCCTGGGCGCGGGGAGGCCCGGCCCCCTGCGAGCGCGCCGCGAACGCTGCGGTCTCCGCCCGCAGAGGCCGCCGGGGCCGTGGATGGGGAGGGCGCGCCGCCCGGCGGTCCCAGCGCACAGGCGGCCACGATGAGGGTCAACGAGAAGTACTCGACGCTCCCGGCCGAGGACCGCAGCGTCCACATCATCAACATCTGCGCCATCGAGGACATCGGCTACCTGCCGTCCGAGGGCACG___CTGCTGAACTCCTTATCTGTGGACCCTGATGCCGAGTGCAAGTATGGCCTGTACTTCAGGGACGGCCGGCGCAAGGTGGACTACATCCTGGTGTACCATCACAAGAGGCCCTCGGGCAACCGGACCCTGGTCAGGAGGGTGCAGCACAGCGACACCCCCTCTGGGGCTCGCAGCGTCAAGCAGGACCACCCCCTGCCGGGCAAGGGGGCGTCGCTGGATGCAGGCTCGGGGGAGCCCCCGATGGACTACCACGAGGATGACAAGCGCTTCCGCAGGGAGGAGTACGAGGGCAACCTCCTGGAGGCGGGCCTGGAGCTGGAGCGGGACGAGGAC___ACTAAAATCCACGGAGTCGGGTTTGTGAAAATCCATGCCCCCTGGAACGTGCTGTGCAGAGAGGCCGAGTTTCTGAAACTGAAGATGCCGACGAAGAAG___ATGTACCACATTAATGAGACCCGTGGCCTCCTGAAAAAAATCAACTCTGTGCTCCAGAAAATCACAGATCCCATCCAGCCCAAAGTGGCTGAGCACAGGCCCCAGACCATGAAGAGACTCTCCTATCCCTTCTCCCGGGAGAAGCAGCATCT___ATTTGACTTGTCTGATAAGGATTCCTTTTTCGACAGCAAAACCCGGAGCACGATT___GTCTATGAGATCTTGAAGAGAACGACGTGTACAAAGGCCAAGTACAGCATGG___GCATCACGAGCCTGCTGGCCAATGGTGTGTACGCGGCTGCATACCCACTGCACGAT___GGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAA___CTCCTGTACGAAGAGTGGGCACGCTATGGAGTTTTCTATAAGTACCAGCCCATCGACCTGGTCAG___GAAGTATTTTGGGGAGAAGATCGGCCTGTACTTCGCCTGGCTGGGCGTGTACACCCAGATGCTCATCCCTGCCTCCATCGTGGGAATCATTGTCTTCCTGTACGGATGCGCCACCATGGATGAAAACATCCCCAG___CATGGAGATGTGTGACCAGAGACACAATATCA)CCATGTGCCCGCTTTGCGACAAGACCTGCAGCTACTGGAAGATGAGCTCAGCCTGCGCCACGGCCCGCGCCAGCCACCTCTTCGACAACCCCGCCACGGTCTTCTTCTCTGTCTTCATGGCCCTCTGGG|GTGGCTAACAAATTTTTCCAGCAACACAGAGCTGAGAGGATTGGGATCTCAGAGAAGAAGGAGCCCTGCATTCTTGGCTTCATCTGCCTGGAGTGGAGTTTCCATCATGCTGAGCTGGAGGTGCACGGGGCCAGGGAAgGAGCAAGTCGTAGCTCAAATGTCCC(AGACTCTTACTATTCTTATTGAAATTTAGTAGGTTTTCTTGAATAAATGTTTCTTCATCTGCTGTATGCCCTTAGGACAATTCCCAGGAACATACATCTATATTGATATCAATATAAATATAAATAGATAATTATGTATGTATAACTTTAGCAGTTTTACTTGTTCTGCTGGAAAGAAGGTCTGGAAGGTTTGCAGAGCTGCTCATGCCACCATTCCAGAAGTTATCCACCAGTTCATTGCTTTTTGCACAGTAGTATTCCATTGCATGTCTATGCCACAATTTGTTTATCCATTCACCTGTTGATGGACATTTGAGCTGTTTCCTGTTTGAGGCTATTACAAATAAAGCTGCTTTACAAATAAAGCTGCTTTGAACATTTGTGTATAA)$ MRVNEKYSTLPAEDRSVHIINICAIEDIGYLPSEGTLLNSLSVDPDAECKYGLYFRDGRRKVDYILVYHHKRPSGNRTLVRRVQHSDTPSGARSVKQDHPLPGKGASLDAGSGEPPMDYHEDDKRFRREEYEGNLLEAGLELERDEDTKIHGVGFVKIHAPWNVLCREAEFLKLKMPTKKMYHINETRGLLKKINSVLQKITDPIQPKVAEHRPQTMKRLSYPFSREKQHLFDLSDKDSFFDSKTRSTIVYEILKRTTCTKAKYSMGITSLLANGVYAAAYPLHDGDYNGENVEFNDRKLLYEEWARYGVFYKYQPIDLVRKYFGEKIGLYFAWLGVYTQMLIPASIVGIIVFLYGCATMDENIPSMEMCDQRHNITMCPLCDKTCSYWKMSSACATARASHLFDNPATVFFSVFMALW|gg* 05BR026 ENSG00000123836.15 ENSG00000229989.4 +/+ -/+ chr1:207075283 chr1:198850721 3'UTR intron duplication/5'-5' 2 1 0 11 2 medium stop-codon . 6-phosphofructo-2-kinase(100%),Histidine_phosphatase_superfamily_(branch_1)(100%)| . . ENSG00000123836.15 ENSG00000229989.4 ENST00000367080.8 . downstream upstream . ^(GGTCCCGGCCACAAGCTGTCGGCTCGGTTCGGTCGCGTTACAGGGCAGGCGCCGGGGCCAAGGCAGGGAGGGATCTTAGGAGAGATCGTAGG___ACATCTGAAGAGCTGCCATGTCTGGGGCATCTTCCTCAGAACAGAACAACAACAGCTATGAAACCAAAACCCCAAATCTTCGAATGTCAGAGAAGAAATGTT___CATGGGCCTCCTACATGACCAACTCCCCGACTCTGATCGTTATGATTGGTTTGCCAGCCCGGGGTAAAACCTACGTGTCCAAGAAACTAACACGCTACCTCAACTGGATTGGAGTCCCCACCAAAG___TGTTTAATCTTGGGGTGTATCGGCGTGAAGCAGTCAAGTCCTATAAGTCCTACGACTTCTTTCGGCATGACAATGAGGAGGCCATGAAGATCCGCAA___ACAGTGTGCTCTGGTGGCGCTGGAAGATGTTAAGGCGTATCTCACTGAGGAGAATGGTCAGATTGCG___GTGTTTGATGCCACCAATACAACCCGGGAGAGGAGGGACATGATTTTGAACTTTGCTGAACAGAATTCCTTCAAG___GTATTCTTTGTGGAATCCGTCTGTGATGATCCTGATGTCATTGCTGCCAATATTCTG___GAGGTTAAGGTATCAAGCCCTGACTATCCTGAAAGGAACAGAGAGAACGTGATGGAGGACTTCCTGAAGAGAATTGAATGCTACAAAGTTACCTACCGACCTCTTGACCCAGACAACTATGACAA___GGATCTTTCTTTCATCAAGGTGATAAACGTGGGCCAGCGATTTTTAGTCAACAGAGTCCAGGACTACATCCAGAGCAAGATAGTCTACTACCTCATGAATATCCACGTCCAGCCTCGCACCATTTACCTTTGCCGGCATGGAGAAAGCGAGTTCAATCTCTTGGGGAAGATTGGGGGTGACTCTGGCCTCTCGGTGCGGGGAAAGCAG___TTTGCCCAAGCTCTAAGGAAATTTCTGGAGGAACAGGAAATAACAGACCTCAAAGTGTGGACAAGCCAGTTGAAGAGGACCATACAGACTGCTGAATCTCTCGGGGTGCCCTATGAGCAGTGGAAGATTCTGAATGAGATTGATGCT___GGTGTGTGTGAAGAGATGACCTATGCAGAGATTGAGAAACGGTACCCAGAAGAGTTTGCACTTCGAGATCAAGAGAAGTATCTGTATCGATATCCTGGTGGGGAG___TCATACCAGGACCTGGTGCAGCGGCTGGAGCCTGTCATCATGGAGCTGGAACGTCAGGGCAATGTCCTCGTCATCTCCCACCAGGCTGTCATGCGCTGCCTCCTGGCCTACTTCTTGGATAAGGGCGCAG___ATGAGCTACCATACTTGAGATGCCCTCTCCATACCATCTTCAAACTTACTCCTGTGGCCTATG___GGTGCAAAGTGGAAACAATTAAACTTAACGTGGAGGCTGTGAACACGCACCGTGACAAGCCAACT___AACAACTTCCCCAAGAACCAAACCCCTGTAAGGATGAGAAGGAACAGCTTTACGCCTCTGTCCAGTTCGAATACAATAAGGCGTCCAAGAAATTACAGTGTTGGGAGCCGGCCCCTCAAGCCCCTCAGCCCTCTCCGTGCCCAGGACATGCAAGAAGGGGCCGACTAGCCGAAGACCCAAGTCAGCATTCCGGTGGTGTAACTGTGTGTTTCCCTCCAGCCCTGGCCTCCTGCCCTTGTCACTAATCACCAAGGAGTCATTAACTTCCTCCCTCTATGCCCACCCCTGACACTTCACCATTAATCTTAACACAGAACATGAGGTTATGTGTTTATAGGACAACTTAAGCTGTTCTTCAGTTTGAAACATCTTTTCACCCAGGGGCAAGTTAGCAAATTGAGTCTTTTAGGACAGATTCTCAGATGGGATGATCTGGAGGAGGAGGAAAAAGATACACTCCCTTGGGGCTGAGCATGCCCCACACTCTTGGATCTTCTCTCTGTTCCCTGGTGTCTTCACTAATGTCCTCATGTTGGTGAAGTGTTGGGGGATGGAGGGCGGGTGAGCAGTCGGGGGACAAAAAGTCTATTTTTCCTTCACTTTTGTCTCTTCAATGTGTGTTTTCCTCACACTCCTTACTTGACTGCTTTCTTCCCCCACTTTCATGTCCCCTCTGGATTGTCCAGTGTAATGCATGGCATTGTGGTGTCTGTCTAGGAAGGAAGGGGTGATTGACAAGAGACAAGTCTGGCCCAGTTAATGCTTTCTGCAGTGGGTCTAAATGGATCTGGACTGGAGGAGTCTTTCCTTTCCTTTCTCCCTTCCTCTCCAGCCAGGTCCTGTAAGGGCCAGCCCAGACTACAGGACATCCACAGAATATTCTGGAGCTTGCAAGTAGACATAGGGTGAGAGTTCTTGCCTCCTTTCATGAGAAACAGTTCTAAGTCTTCGATGCCCTGGGAGAATCTGGCTCTGAGCATGTGGGAAATGTCTTGGTTTTTATTTTTAATTTAGAGTCAGGCCTGGGTCTTTTGAGGTCTGCAGAGTGGGGTTTAGGAGAGTAGGGTGGGCTCTAGCTCTTGCAGGGCTCTTAGAGAGCAGTCATGTCTTTTCTCCCATGACTCTCAGGTTCTTTGCCAATCACAGCAACTTTTCCTGCCAAAGCCAGTATCCTCTGGGGCTGTTTAGAAGGGCAGTTAGATTCAGGAGTCACCACTGATGTTTGAGTTGCTCAAGGCAAGAGGCAGAGAAGAGTTCACTAAAACTGCTTATTTTTGAATAATTTCAGCACACTGTCCTTAAGAAGAAAGAAACATCAAAACAAAATAGTTTTTACATGACCATTTTTTTCCCAAATGTGGAAAAGCTTGATGATGAATTTAATCTCTCTCATTGGAGTATTCTTTTGTTCATAAAGAGAAACTATCTCATCTTGATGTCCAGAGAAGTCCTTGGAACCCTGTGGGATCTAGCTCGTAACTGTTTGTATTTCTCTATTCACTTCTGTCATTTCATTTTCTTTGTAGGGTTAAACAGAAAATGTTTAGGGAAGAAATTCTTAGCCCCTTGATGACCATGATGGCTTATTCTCTTTCCCAATTTTGCATGCAAAATGTACGAATATATGTATGTTTTTCTGAGAGGCAAGTTTAGGGTTCTCATGGGATTTTAAAAAGAGATAGGTGACTCCCCACCTTAAAGTTATCTGCTGGTCTTTTAGAGGTAACCAGTGAGAAGGAGTTAGCTATTTTCCAAGGGTGTTTTCATTTGGTAATGGAAGACTTTTTGCTGTGGTTCTCATCCAGGAGTATTCCTTAGAATTGCCTTTAGGATTGTTGAATCATAAACATGCCTGTGTCCACCTTATGCTTAATACTGACTCAGAATCTCTGGGATCTGGGTCTGGACATGCATGTATTTAAGTAGCTTCCCGGATGATTCTGATTCATAGCTCGGGTTAAGAACTCCACCTTAGGAAGTTAGGTGGAAAAATACTGGATAGTAGTTTCTCAGACAAAAGTGTCAGCCTAGGAATTCTGAATTCCTCATAGTCCTGAAAGGACAGTTCTTTGGGTTTGATGTTTGAGCAGATCATAATGTTAAATGATATAACCCCCTGGAAGGCAGGCTGCTGTGTTTTAGAGGGTTATTCTAGGTTCTAGTCCCATCTTTAACCCTTTACATTGCTGAGTGATGTGGAACAAATCACTGAATTAAATAATTGTCTCTAGAGAGCAGCTGGGGATTTTAAGCACCCTGGAGAGAGGTGCAGACCCTGCCAGGATGATAAAGGTTGTCATCACTGGCAACTGACTCCTGACCCCGGGTCCTTTACTCGTATGTCCCAAGTAGGATACCATAGGCAGCTTCTAAAGGCTGCTTACCTAGATTCTTCTCAAAATTGTGTCCAAGATGTTAAGTAACCTGCTATTCCTGTTTAGTGGTTACATAACATGTACTTAGTGTCTTTGTGGAGCTTTGGGCTGGTAGGGGCAGGGATAGGGGAAAGCTAAACAGAAGTAGAAGAAAAGGTCCTTGTCCAGAGGAAGGTTATTTTAAGAGACAGGACATGTAATTTATAACAAATGGACATTTGCAATATAGCAACAGTCTGAGTCTAGAAGTGTTCAACCATCACATCGCTTCTCCTGACTTTTCTGTTGTCCTATGGCTATGAGACTACAGGGGTTGGGGGATGGGGATGCCCCCACCACCACCAGTGTGAGAATGAGATATGGTTGGGGAGGCGTGTTTGGCACTTTTACAAGGTTGCATTGTCCACATTTGCTTGGATGGTGGCATCTGTAGCCCAAATGGGCATTCAGTCTTTTCTTCTGCTGTGAGGTAAGAGTAATTCAGACCTAATGAATGAGAAGAGGGAGCACTTTGATCCACAGACTTTGGATTAACACTGTACCCACTCTTAGCAAAAGGGGACTTCTCTAACAAGCTAGCATT)GTGTTAACCTGTCATTAACCCAGCATTAGAGACAGGTCACTGGGATGTTCATTCTGGCTCTCAGCCTGCTGTTATTTCCCCACTCTCACCTGTGCTAGTTCGCTTTCTCCAGAAGAGGAGCT|ACAAGCTAAATTCTCAAAATTTGAATGTAAAGTAGATAACATAGCTTAGAGCCATCACTCTTATCAGTTCTGTGGCATCAGACATATTTTTATTATCTTGTGCTCAACTTTAGAATAGTATTTCCTTTCTCAAATGGTTCTTGTGAGGATTAAAGGAGACCATGTAGCCATATCATTGTGT . 05BR026 ENSG00000168517.10 ENSG00000167916.5 +/- -/+ chr17:45161257 chr17:40699921 intron intron inversion 1 2 0 38 92 medium . . . . . ENSG00000168517.10 ENSG00000167916.5 . . upstream upstream . GTTGGAGTCTCCTCGGCCGAGCCCGGTCCTCAAACCGTCCCGGCAGCCCCGCAGCCTCGCCTCTCACAGAGTGCGGGGTTCTTCG|TGAACCTCTTGGCAAAGAAAGAAAACTGCATTTGCTTAACTCCCTGTTGGAAAATGTGAAAAGCTATTTGCACATACCATGGCCAGTTGGGACTGAAGCTCAATTTCCAGGGCTTGCAGG___GTCAGAGCGGGTCATAGTCAGGTCATCCAGGACTTTCCGCAGGCCATTGATGTCAGCCTCCACGCTCTGCCGGAGACACAGCTCGTTCTCATACCTGGAAGGGGCAGCAGTAAGGCAAAAAATACTGTGAGCTCACCTGGCCGTGTTTCAAAGG___CTGTTGTAGGCTGATGAAAGGAGCAGAAGCGGCCGGTGTGTAGC . 05BR026 ENSG00000130940.15 ENSG00000133226.17(8106),ENSG00000284699.1(23507) -/- ./+ chr1:10760701 chr1:24681387 5'UTR/splice-site intergenic inversion 2 0 0 21 0 medium . . . . . ENSG00000130940.15 . ENST00000377022.8 . upstream upstream . ^(GCGCGCCCGCGGCGCTCCATCCCAAACACACACACATTTTTCCCCCGGACTTGGAAAGT)CACCCAAAGCCGCCCCAAGTGCAG___GCAAACAGACCTTGCTGACTGAAGGCAAAGACTCCTCCATCCCACCTGCCCTCCCAGCTGCCACGGCCATCGACCCCTCCTTTACAAGGGGCTCCTGCAACTCCCCAGCAGCACGTGTTGGAATGGACTTCGGACCCTGGCCTCTTGGGATGCAAAG|ACTGATCTTGAACTCCTGGCCTCAAGCAATTCTGCCTTGGCCTCCTGAAGTGCTGGGACTACATAT . 05BR026 ENSG00000145736.14 ENSG00000145736.14 -/- -/- chr5:71035220 chr5:71042439 3'UTR intron duplication 1 1 0 11 3 medium stop-codon . Ssl1-like(100%),TFIIH_C1-like_domain(100%)|TFIIH_C1-like_domain(100%) . . ENSG00000145736.14 ENSG00000145736.14 ENST00000274400.9 ENST00000274400.9 upstream downstream . ^(CTAGCTAGGCGGCTGGGAGCGTTTTCGTGGCGGGGAACGGAGGTTGAATTGCCCTGCCTGGGCTCATAGGGAAGGAGGATGTGAAGGAGCTTGTGAAGGCAGAGGAAG___ATTATTGAATAATAAAATACAGTTTTGAAAAAAATGGATGAAGAACCTGAAAGAACTAAGCGATGGGAAGGAGGCTATGAAAGAACATG___GGAGATTCTTAAAGAAGATGAATCTGGATCACTTAAAGCTACAATAGAAGACATTCTATTCAAGGCAAAGAGAAAAAG___AGTATTTGAGCACCATGGACAAGTTCGACTTGGAATG___ATGCGCCACCTTTATGTGGTAGTAGATGGATCAAGAACAATGGAAGACCAAGATTTAAAGCCTAATAGACTGACGTGTACTTTAAAG___TTGTTGGAATACTTTGTAGAGGAATATTTTGATCAAAATCCTATTAGTCAG___ATTGGAATAATTGTAACTAAGAGTAAAAGAGCTGAAAAATTGACTGAACTTTCAG___GAAACCCAAGAAAACATATAACGTCTTTGAAGAAAGCTGTGGATATGACCTGCCATGGAGAGCCATCTCTTTATAATTCCCTAAGCATAGCTATGCAGACTCTAAA___ACACATGCCTGGACATACAAGTCGAGAAGTACTAATCATCTTTAGCAGCCTTACAACTTGCGATCCATCTAATATTTATGATCTAATCAAG___ACCCTAAAGGCAGCTAAAATTAGAGTATCTGTTATTGGATTGTCTGCAGAAGTTCGCGTTTGCACTGTACTTGCTCGTGAAACTGGTG___GCACGTACCATGTTATTTTAGATGAAAGCCATTACAAAGAGTTGCTCACACATCATGTTAGTCCTCCTCCTGCTAGCTCAAGTTCTGAATGCTCACTTATTCGTATGG___GATTTCCTCAGCACACCATTGCTTCTTTATCTGACCAGGATGCAAAACCCTCTTTCAGCATGGC___GCATTTGGATGGCAATACTGAGCCAGGGCTTACATTAGGAGGCTATTTCTGCCCACAGTGTCGGGCAAAGTACTGTGAGCTACCTGTTGAGTGTAAAATCTGTG___GTCTTACTTTGGTGTCTGCTCCCCACTTGGCACGGTCTTACCATCATTTGTTTCCTTTGGATGCTTTTCAAGAAATTCCCCTAGAAGAATATAATGGAGAAAG___ATTTTGTTATGGATGTCAGGGGGAATTGAAAGACCAACAT___GTTTATGTTTGTGCTGTGTGCCAAAATGTTTTCTGTGTGGACTGTGATGTTTTTGTTCATGATTCTCTACACTGTTGCCCTGGCTGTATTCATAAGATTCCAGCTCCTTCAGGTGTTTGATTCCAGCATGTAGTATACATTGTATGTGTTAAAAAGAAATTTGCAACTGTGAATAAAAGGACTTCTTTAGAAGAAGCTTCATTTAAAACATGAAAGGATAATCTGACTTAAGAAACTTTTTGCTAAGAAAAGGTAATATTTTATTAAATTTTAAATTTGTGTTGTCACAGAAATACCTGAAATTCAGTAGTACTTCATTCAATTAATTTTGTTTTCTATTATTTTGAGTTATACTGTTTTCAAAGTCATTATGCAGTATGTATAAACTTATAAGAATTAAATTGATGTGATAATTTTATGTTTTTATAATTAAATATAGAATCTTTATG)ATTTATGTTAATTCATTAATTTAGTGTAAGAAGAAAGTTAAGTCTGAATGTAAATTCAGTGTAAGATGAAAATTTATCAATACTTATGAAATTAGGCTGGGCGCTGTGGCTC?CgCCTGTAATCCCAA|AGTGCTGGGATTACAGGTGTGAGCCTCTGCGCCCGGCCAAAAATACAGACTTTTAAATAGATTTTTAAATAGTGTCAAGATTTTAAGGTCAAGATAGCATGCTTTCCCGCTCTAACTTTTCAGATCATTATATATTACCCTTTTTCCCCCTACAGGCATTTGGATGGCAATACTGAGCCAGGGCTTACATTAGG(AGGCTATTTCTGCCCACAGTGTCGGGCAAAGTACTGTGAGCTACCTGTTGAGTGTAAAATCTGTG___GTCTTACTTTGGTGTCTGCTCCCCACTTGGCACGGTCTTACCATCATTTGTTTCCTTTGGATGCTTTTCAAGAAATTCCCCTAGAAGAATATAATGGAGAAAG___ATTTTGTTATGGATGTCAGGGGGAATTGAAAGACCAACAT___GTTTATGTTTGTGCTGTGTGCCAAAATGTTTTCTGTGTGGACTGTGATGTTTTTGTTCATGATTCTCTACACTGTTGCCCTGGCTGTATTCATAAGATTCCAGCTCCTTCAGGTGTTTGATTCCAGCATGTAGTATACATTGTATGTGTTAAAAAGAAATTTGCAACTGTGAATAAAAGGACTTCTTTAGAAGAAGCTTCATTTAAAACATGAAAGGATAATCTGACTTAAGAAACTTTTTGCTAAGAAAAGGTAATATTTTATTAAATTTTAAATTTGTGTTGTCACAGAAATACCTGAAATTCAGTAGTACTTCATTCAATTAATTTTGTTTTCTATTATTTTGAGTTATACTGTTTTCAAAGTCATTATGCAGTATGTATAAACTTATAAGAATTAAATTGATGTGATAATTTTATGTTTTTATAATTAAATATAGAATCTTTATGATTTATGTTAATTCATTAATTTAGTGTAAGAAGAAAGTTAAGTCTGAATGTAAATTCAGTGTAAGATGAAAATTTATCAATACTTATGAAATTAGGCTGGGCGCTGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCACTACTAAAAATACAAAAAATAATTAGCCGGGCATGGTGGTTCACGCCTGGAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCACCCTAGAGTGAGACTCCATCTCAAAAAAAAAAAAAGTTATGAAATTAATACATATGAAATGATGTACTGCTACATCCACCAGAGAGGTCTTTTTAGGTTTAACCAAACATCTGGAATATGTTTATCAAGTTAGTACATCTGAAATTATTTGTGGCTATGACCAACAGAAGTCACTTTACATTAAACATTCAAACTCACAAGACTGCCATGGCCATACTTGGTACCCGCTTACTCAGAAGGATATTAAACAGAAACAACAGCCTGCCAGCACAGCATCAAGCAGTCCTCATTAGCAGTGGAAGTCCTTGTAGCAGTCCACTAGTACAATTTGGGTGCAAGGAGATAAGATCCTCCACAGGCATCAAGGAACCAATATCTCTTAACAATTCCATAAACACAGCTTCCAGGTATCCACAAGGGATGTGTCAATTTCAAGAGTCACTACACTCAGGAAAGCCTAAAGCTTGAAGACTCCATTTATTTATAGTGCATCCCAATCCAGATACGTAACAATTAACGAGTTATTTTTACTATAAGCAAAGTTGCCTAAAATCATAGTTGATACTAATCATGGTTAACAGAGCTCTAAAGTTTGACAGAAAGTGAGATTCAAATCCTTTCACTCTCATATGCTAAACCTTTTGCCTTACTCTGGGTCATCAGAGAAATTTAGGTGAGAATGTATGATGAAGTCTGTGTTTTAGATTCAATGCAGATATATCATTGTGCGCAGAACTCTTTCTGGTTATATCCAGTTAAGAGTAAATCAGGCTTTCAGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAACATACAAAAAATTAGCTGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTATTCGGAAGGCTGGGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCTCCACTGCCCTCCAGCCTGGGCGACAGAGCTAGACTCTGTCTCAAGAAAAAAAAAAAAAGAGTAAATCAGGCTTTCATAGCAAAGGTATGTCTATTTTATGTATATAAACTTCAGGTACTCTAACTTGAGTTTCACTATGAAATTTGTGATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCCATCGCCCAGGCTGGAGTGCAGTGGCCTGCTGTTGGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGCATTTTTGGTAGAGACGGGGTTTCACCTTGTTGATCAGGCTGATCTCCAACTCCTGACCTCAGGTCATCCACCCACCTCCGCCACCGTGCCCGGCCGAAATTTGTGATTTTATAACTAAGAATTTTTAGTTAAGAACATTATCAGTAAAGACAACGTAATCCCACCCTGGAGAGTTTATTGGGAGCCCAGGAATATTCATTTTTAATACACACACACACACACACACACACACACACACACACACTGATCAGAGTAACAGGAGTTTCTCTCAGGAGTCATACTCCATGAGCCTGGACCCAGTGGTTCTTTACGTGGAAACAAATTTCACCTATAGGTAACCTGGTAACTGCTATTTTCTTCTGTGTGCTCTGTCAACAAAGTTATCAGTGGCTTGCAAGAGATGCCTTTAATACTCAGAGCATTCTATCTCCCCCTATCTGGTTTAGAAGGAAGGCCTTCATTAGTTACCTTTTGAGAAGTTACTAGAACTCTCTATTAGAGACTTACCCTCCTGACCTGATAAAAAGGGATACCCATGTCTCTATTAACAGCTTTATCTCTTTCTACAGTTTTGGGTATTTGATAAGGTTAAGGCAAAATTTTAGTTATGCTTAAGGAGGAGTTCTTTTTTCACAATTACAGAGAAAATTTTGGTTTGTTGAAGATTGCAGAAACAGCAATGGTAATGTAAGACAGTTTTGGCCTTTAATTTTTTTCTTGAAACTCTACAGTATACTACAATAGTGAAGGAAACTATTAACATGAGAGATCCTTCTGAATAGGATGTCTTTCTGAGTTCCACTATTCAGTTACAAAACTCCTTAATGCTTAAAATTCATTATGAAAATTAGATTTATTTTAAATACTTTCAAGTGTATACATTTTTATTTCATAATTTTTATTGTCTTTTAACTAAAGCATTTAGTTCATTTATATTTACTGTGTACCTTTTATATTTAATAAATATATTTACTTATTAAAAGATTA)$ . 05BR029 ENSG00000110841.14 ENSG00000285835.1 +/+ -/+ chr12:27524365 chr11:87871216 5'UTR/splice-site intron translocation/5'-5' 19 43 1 67 92 high . . . . . ENSG00000110841.14 ENSG00000285835.1 ENST00000545334.5 . downstream upstream duplicates(2),mismatches(2) ^(GGTAC)CTGGAACTGGGAGTGATGTCAGCTCCCAGCTCGGTGCCTGCCCGGATTCCTGACATGGTGTAGTGCAGGCAGGGTGGGGAAAGGACGGGGAAGGACTCGTGTGCTGCGAGCTGGCGGCCGGGCCGGAGTGCTGGGGCTTTGAACTCCGAGAGGAGGTGGACCAGAACTTTTGGAACTAGTGCCGGCGGCTCTCCACCCCCCAG|GACAAGCTGTGAAATGCCTAGATTCCAGAGCAACAGACTGTGATCCATTCCCAACAACCCCTCCCTACCGTCTGCCACCAGTTCCCTTAAAGCAGGAATCAGAGCTAGACTGACTCAACTAAG___AATTGTTTTGGAGAACTTGGAACTCAACATTCCATAAA___GCAAGAAGCTTGACATAGCATCGATGAGCCCAAGTCAACTATATGAACAAAACAATGTCTCAGGAGGGGCAGGGTATCACGTCAGAAGAATCCTGAGTCCTTAGATGACCTTGTAGAAAAGAGCCACAAACTTACTCTGGGC . 05BR029 ENSG00000131323.16 ENSG00000185215.10 +/+ +/+ chr14:102777675 chr14:103129740 5'UTR/splice-site CDS/splice-site deletion/read-through 9 42 0 84 118 high . . . . . ENSG00000131323.16 ENSG00000185215.10 ENST00000392745.8 ENST00000560869.6 downstream upstream duplicates(4),mismatches(1) ^(GCGGGGCTGCGTGAGGGAGCGAGGGAGCGAGGGAGCGCGGCGCGGCCGCCGCGTGCGCGAGCCGGGGTTGCAGCCCAGCCGGGACTTTCCAGCCGGCGGCA)GCCGCGGCGGCCGCCGGCTCTTCCCCGCCCCCCGCCATGGGGCAGCCCGGGGAGCAGAAtGCTGCGGACCGCGGCGGAGGACGCGCCCGGCGCCCCTGAGCCGGCCGAGCGGCGACGGACCGCGAG|TGACATCATCAACAGCCCCAAGCTGGTGGGTGAGCTGCAGGGTATGGGGCTCGGGAGCCTCCTGCCCCCCAGGCAGATCCGACTGCTGGAGGCCACATTCCTGTCCAGTGAGGCG___GCCAATGTGAGGGAGTTGATGGACCGAGCTCTGGAGCTAGAGGCACGGCGCTGGGCTGAGGAT(GTGCCTCCCCAGAGGCTGGACGGCCACTGCCACAGCGAGCTGGCCATCGACATCATCCAG___ATCACCTCCCAGGCCCAGGCCAAGGCCGAGAGCATCACGCTGGACTTGGGCTCACAGATAAAGCGGGTGCTGCTGGTGGAGCTGCCTGCGTTCCTGAGGAG___CTACCAGCGCGCCTTTAATGAATTTCTGGAGAGAGGCAAGCAGCTGACGAATTACAGGGCCAATGTTATTGCCAACATCAACAACTGCCTGTCCTTCCG___GATGTCCATGGAGCAGAATTGGCAGGTACCCCAGGACACCCTGAGCCTCCTGCTGGGCCCCCTGGGTGAGCTCAAGAGCCACGGCTTTGACACCCTGCTCCAGAACCTGCATGAGGACCTGAAG___CCACTGTTCAAGAGGTTCACGCACACCCGCTGGGCGGCCCCTGTGGAGACCCTGGAAAACATCATCGCCACTGTAGACACGAGGCTGCCTGAGTTCTCAGAGCTGCAGGGCTGTTTCCGGGAG___GAGCTCATGGAGGCCTTGCACCTGCACCTGGTGAAGGAGTACATCATCCAACTCAGCAAGGGGCGCCTGGTCCTCAAGACGGCCGAGCAGCAGCAGCAGCTGGCTGGGTACATCCTGGCCAATGCTGACACCATCCAGCACTTCTGCACCCAGCAC___GGCTCCCCGGCGACCTGGCTGCAGCCTGCTCTCCCTACGCTGGCCGAGATCATTCGCCTGCAGGACCCCAGTGCCATCAAGATTGAGGTGGCCACTTATGCCACCTGCTACCCTGACTTCAG___CAAAGGCCACCTGAGCGCTATCCTGGCCATCAAGGGGAACCTATCCAACAGTGAGGTCAAGCGCATCCGGAGCATCTTGGACGTCAGCATGGGGGCGCAGGAGCCCTCCCGGCCCCTATTTTCCCTTATAAAGGTTGGTTAGCTTTTCCTGTGGCCTGACCTGCCTGTGAGTGCCCAGCAAGCCTTGGGCACACCCCGCTGGGAGCTGTTAAGAGCAGCGCTGGTTCTCGGTTCCTCCCGGGTCTCCTGTGCTCTGATGCTACTTCTGCCTAGCCCTGGCGGAGGTGCAGGCCCTGTCAGCTGGAACTGGACAGACCTTGGTTTGTTTACATGTCCGATGGGGGCAGGAGCTCCCATCCTGGGCAGCCAACCAGGCAACACCAAGGACTCTTTGTAAACGATAGCTGATCGTGTGCACGCAAGGAAAGAACCAGGAGGGAGAGTGCAGCCAGGCTCAGGGATCCCCGGACACCTCTGTCCAGAGCCCCTCCACAGTCGGCCTCATGACTGTCCTCCTCGTGGGTGGGGCCGAGGGCCCTCTTCAGCTCTCTGGAGACAGGGGCCGAGCCTCACCCATCTGCCCTCTGCAGCCCAGGGCCGCCGTGAGCGGGATTCAGCAATGGTGGAATGGAAGACAGAACTGGAAGAGAAAGAAGGAAAAGATGAGCTCTCGTCTGGCAGGGGCTTTTAGGGTCCTGTGGCGAGCTGTGAGCACCGCCAGCATTAGACGTCACATCCAGGTGGCCCCACGGCCCCTACAGGCTGGCCCTGCAATGGGGCCCTGAGCCCTCCCTCTTCATCCCCCAAGGCCTCAACTAGAGGGTGGTCCCCCGAGGGCTTGGTGTCTACTACCGAAGGGCCCAAGACCTCCTGGGTCCTCTCAGGCTCCCCCTTCCCCAAGGCAGGGACAGGCCCTGGGGGTGCCACCGTGGGCCCTGCCACCCAGAAGTCTGGCTGAGGTCTGGGCAGGGGCAGGGCAAGCTTGACCTCTCACTGTTGACCCTTTGGCCTCTGTATTTGTTTCCTATTGCCGTGACAGGTTTCCACAAACTTCGTGGATCAAAACGAGGTCTTCCAGTTCTGCGGGTCAGAAGGCTGACCCGGGGCTCAAATCTGGGTGTCGGCAGTCCTGCACTCCTTCTGGAGGCTCTAGGGGAGAATTCATTTCTGGCCTTTTCATTTTTAGAGGCTGACCGTAATTCTTGACTTCAGGCTCCTCCATCTTCAGAGCCAGCTGTGGGTAGTTGAATCTTTTTCCCGTCACCTCATTGAGGCCTCCCCTCTCCTGCCTCCCTCCACCACTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCCTGGTCATGGCATCAAGGCTCACTGCAGCCTGGACCTCCTGGTTCAAGTGATCCTCTTGTCTCAGTCCCCTGAGACAATCCCCCACGCCCAGCTACATATTTTTTGTGGATACAGGGTCTCATTCTGTTGCCTAGGCTTGTCTGGAACTCCTGGGCTCAAGGGATCTTGTAGCCTTAGCCTCCTAAAGTGCTGGGATTATAGGCATGAGTCACTGTACCCGGCCTGCTCTACCGCTTTTAAGGACGCTTATGATCACATTGCGCCTACCCAGAGAACCCAGGTCGTCTTTCTATTTTCAGGTCAGCTGATTAGCCACCTTAGTTCCATCTGCAACTTTAGTTCCCACTGGCTGTGTAACCTAACATAGTCACAGGCTCTGGGGACTGTCACGTGGACATCTTTGGGAGGCCGTTATTCTGCCCACCGCACCCTCCGTTCATCCCCTGCCCTGCCGGGCACCTCGCTCTACCCCAGGAAAATGTGAGCTCGTTTTCCTGCTCGGCATGTGCTCCCCCTAAGGCTCTGCTCCTCCCTGGGCCTGAAAGTTCCTTCTCAGCCTGAGAGGGGGCCCTTCGGACTCAGGCATGACTCAGCCCGGCTGATGCCTCTGCAGTGCTGAGTCAGGATTTGGGGCCGGCTCTCTTGGGTCCGTCCCCTTTTCCCAGGTACTGCCTTACAAAGCTGTGGCCAGGAAGTGGCCGGTATAAAGGATGCCCAAGGTCTTTGTACGTGTGTAGGAGTTAGCGTGTTTGATATTGTTAATATAATAATAATTATTTTTTAGAGTACTGCTTTTGTATGTATGTTGAACAGGATCCAGGTTTTTATAGCTTGATATAAAACAGAATTCAAAAGTG)$ . 05BR029 ENSG00000131323.16 ENSG00000185215.10 +/+ +/+ chr14:102777675 chr14:103130002 5'UTR/splice-site CDS/splice-site deletion/read-through 1 9 0 84 153 high . . . . . ENSG00000131323.16 ENSG00000185215.10 ENST00000392745.8 ENST00000560869.6 downstream upstream duplicates(3) ^(GCGGGGCTGCGTGAGGGAGCGAGGGAGCGAGGGAGCGCGGCGCGGCCGCCGCGTGCGCGAGCCGGGGTTGCAGCCCAGCCGGGACTTTCCAGCCGGCGGCAGCCGCGGCGGCCGCCGGCTCTTCCCCGCCCCCCGCCA)TGGGGCAGCCCGGGGAGCAGAAtGCTGCGGACCGCGGCGGAGGACGCGCCCGGCGCCCCTGAGCCGGCCGAGCGGCGACGGACCGCGAG|GCCAATGTGAGGGAGTTGATGGACCGAGCTCTGGAGCTAGAGGCACGGCGCTGGGCTGAGGATGTGCCTCCCCAGAGGCTGGACGGCCACTGCCACAGCGAGCTGGCCATCGACATCATCCAG___ATCACCTCCCAGGCCCAGGCCAAGGCCGAGAGCATCACGCTGGACTTGGGC(TCACAGATAAAGCGGGTGCTGCTGGTGGAGCTGCCTGCGTTCCTGAGGAG___CTACCAGCGCGCCTTTAATGAATTTCTGGAGAGAGGCAAGCAGCTGACGAATTACAGGGCCAATGTTATTGCCAACATCAACAACTGCCTGTCCTTCCG___GATGTCCATGGAGCAGAATTGGCAGGTACCCCAGGACACCCTGAGCCTCCTGCTGGGCCCCCTGGGTGAGCTCAAGAGCCACGGCTTTGACACCCTGCTCCAGAACCTGCATGAGGACCTGAAG___CCACTGTTCAAGAGGTTCACGCACACCCGCTGGGCGGCCCCTGTGGAGACCCTGGAAAACATCATCGCCACTGTAGACACGAGGCTGCCTGAGTTCTCAGAGCTGCAGGGCTGTTTCCGGGAG___GAGCTCATGGAGGCCTTGCACCTGCACCTGGTGAAGGAGTACATCATCCAACTCAGCAAGGGGCGCCTGGTCCTCAAGACGGCCGAGCAGCAGCAGCAGCTGGCTGGGTACATCCTGGCCAATGCTGACACCATCCAGCACTTCTGCACCCAGCAC___GGCTCCCCGGCGACCTGGCTGCAGCCTGCTCTCCCTACGCTGGCCGAGATCATTCGCCTGCAGGACCCCAGTGCCATCAAGATTGAGGTGGCCACTTATGCCACCTGCTACCCTGACTTCAG___CAAAGGCCACCTGAGCGCTATCCTGGCCATCAAGGGGAACCTATCCAACAGTGAGGTCAAGCGCATCCGGAGCATCTTGGACGTCAGCATGGGGGCGCAGGAGCCCTCCCGGCCCCTATTTTCCCTTATAAAGGTTGGTTAGCTTTTCCTGTGGCCTGACCTGCCTGTGAGTGCCCAGCAAGCCTTGGGCACACCCCGCTGGGAGCTGTTAAGAGCAGCGCTGGTTCTCGGTTCCTCCCGGGTCTCCTGTGCTCTGATGCTACTTCTGCCTAGCCCTGGCGGAGGTGCAGGCCCTGTCAGCTGGAACTGGACAGACCTTGGTTTGTTTACATGTCCGATGGGGGCAGGAGCTCCCATCCTGGGCAGCCAACCAGGCAACACCAAGGACTCTTTGTAAACGATAGCTGATCGTGTGCACGCAAGGAAAGAACCAGGAGGGAGAGTGCAGCCAGGCTCAGGGATCCCCGGACACCTCTGTCCAGAGCCCCTCCACAGTCGGCCTCATGACTGTCCTCCTCGTGGGTGGGGCCGAGGGCCCTCTTCAGCTCTCTGGAGACAGGGGCCGAGCCTCACCCATCTGCCCTCTGCAGCCCAGGGCCGCCGTGAGCGGGATTCAGCAATGGTGGAATGGAAGACAGAACTGGAAGAGAAAGAAGGAAAAGATGAGCTCTCGTCTGGCAGGGGCTTTTAGGGTCCTGTGGCGAGCTGTGAGCACCGCCAGCATTAGACGTCACATCCAGGTGGCCCCACGGCCCCTACAGGCTGGCCCTGCAATGGGGCCCTGAGCCCTCCCTCTTCATCCCCCAAGGCCTCAACTAGAGGGTGGTCCCCCGAGGGCTTGGTGTCTACTACCGAAGGGCCCAAGACCTCCTGGGTCCTCTCAGGCTCCCCCTTCCCCAAGGCAGGGACAGGCCCTGGGGGTGCCACCGTGGGCCCTGCCACCCAGAAGTCTGGCTGAGGTCTGGGCAGGGGCAGGGCAAGCTTGACCTCTCACTGTTGACCCTTTGGCCTCTGTATTTGTTTCCTATTGCCGTGACAGGTTTCCACAAACTTCGTGGATCAAAACGAGGTCTTCCAGTTCTGCGGGTCAGAAGGCTGACCCGGGGCTCAAATCTGGGTGTCGGCAGTCCTGCACTCCTTCTGGAGGCTCTAGGGGAGAATTCATTTCTGGCCTTTTCATTTTTAGAGGCTGACCGTAATTCTTGACTTCAGGCTCCTCCATCTTCAGAGCCAGCTGTGGGTAGTTGAATCTTTTTCCCGTCACCTCATTGAGGCCTCCCCTCTCCTGCCTCCCTCCACCACTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCCTGGTCATGGCATCAAGGCTCACTGCAGCCTGGACCTCCTGGTTCAAGTGATCCTCTTGTCTCAGTCCCCTGAGACAATCCCCCACGCCCAGCTACATATTTTTTGTGGATACAGGGTCTCATTCTGTTGCCTAGGCTTGTCTGGAACTCCTGGGCTCAAGGGATCTTGTAGCCTTAGCCTCCTAAAGTGCTGGGATTATAGGCATGAGTCACTGTACCCGGCCTGCTCTACCGCTTTTAAGGACGCTTATGATCACATTGCGCCTACCCAGAGAACCCAGGTCGTCTTTCTATTTTCAGGTCAGCTGATTAGCCACCTTAGTTCCATCTGCAACTTTAGTTCCCACTGGCTGTGTAACCTAACATAGTCACAGGCTCTGGGGACTGTCACGTGGACATCTTTGGGAGGCCGTTATTCTGCCCACCGCACCCTCCGTTCATCCCCTGCCCTGCCGGGCACCTCGCTCTACCCCAGGAAAATGTGAGCTCGTTTTCCTGCTCGGCATGTGCTCCCCCTAAGGCTCTGCTCCTCCCTGGGCCTGAAAGTTCCTTCTCAGCCTGAGAGGGGGCCCTTCGGACTCAGGCATGACTCAGCCCGGCTGATGCCTCTGCAGTGCTGAGTCAGGATTTGGGGCCGGCTCTCTTGGGTCCGTCCCCTTTTCCCAGGTACTGCCTTACAAAGCTGTGGCCAGGAAGTGGCCGGTATAAAGGATGCCCAAGGTCTTTGTACGTGTGTAGGAGTTAGCGTGTTTGATATTGTTAATATAATAATAATTATTTTTTAGAGTACTGCTTTTGTATGTATGTTGAACAGGATCCAGGTTTTTATAGCTTGATATAAAACAGAATTCAAAAGTG)$ . 05BR029 ENSG00000102384.13 ENSG00000126950.8 +/+ +/+ chrX:101109998 chrX:101094573 CDS/splice-site CDS/splice-site duplication 28 16 3 119 54 high in-frame . Mis6_(100%)| . . ENSG00000102384.13 ENSG00000126950.8 ENST00000372927.5 ENST00000372930.5 downstream upstream duplicates(1),mismatches(3) ^(ACAGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTAGTGCAATCTCTGCTCACTGCAGCCTTCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCCAACTAGTTTTTGTATTTTTTAGCAGAGACGGGGTTTCCTCATATTGGCCAGGCTGGTCTCAAACTCCTGTACGCCTGACCTCAAGTCAGGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAG___AACATATGCAGTAATGTCACCTCAAAAGAGAGTTAAGAACGTCCAGGCACAAAACAGGACTTCACAAGGTAGTAGTAGTTTTCAGACCACGCTTTCAGCCTGGAAAGTAAAACAGGATCCAAGCAACTCGAAGAACATCTCAAAACATGGACAAAACAATCCAGTGGGAGATTATGAACATGCTGATGATCAAGCTGAAGAAGATGCTTTGCAAATGGCAGTGGGATATTTTGAGAAAG___GTCCCATTAAAGCTTCACAGAATAAAGATAAAAC)CTTGGAAAAACACTaGAAAACTGTGGAAAATGTGGCTTGGAAGAATGGGTTAGCTTCAGAAGAAATTGATATTCTATTAAATATTGCACTCAGTGGCAAATTTG___GAAATGCTGTAAACACACGGATATTGAAGTGCATGATCCCAGCAACAGTAATATCAGAAGATTCTGTGGTTAAGGCAGTCTCCTGGCTTTGTGTTGGCAAGTGTTCTGGTAGCACCAAG___GTACTTTTTTATCGTTGGCTGGTTGCAATGTTTGACTTCATTGATCGTAAGGAGCAAATTAACTTGCTCTATGGCTTCTTTTTTGCTTCATTGCAAGATGATGCACTG|AAACGTGCTTACAAGAGCTATGTTCGAGCCCTCCCTCTGCTGAAGAAAATGGGGATCAATTCCATTCTCCTCCGAAAAAGCATTGGTGCCCTTGAAGTGGCCTGTGGCATCGTCATGACCCTTGTGCCTGGGCGTCCCAAAGATGTGGCCAACTTCTTCCTACTGTTGCTGGTGTTGGCTGTGCTCTTCTTCCACCAGCTGGTCGGTGATCCTCTCAAACGCTACGCCCATGCTCTGGTGTTTGGAATCCTGCTCACTTGCCGCCTGCTGATTGCTCGCAAGCCCGAAGACCGGTCT(TCTGAGAAGAAGCCTTTGCCAGGGAATGCTGAGGAGCAACCCTCCTTATATGAGAAGGCCCCTCAGGGCAAAGTGAAGGTGTCATAGAAAAGTGGAAGTGCAAAGAGTGGACCTTCCAGGCAGTTGCGTCCATGACACCAGGAAGATGTCAGTGTGTGTTTTTCATTTGATTTATTTATCTTGGGGAAAGTGAAAAATGTAATCTGCAAGTTAATGACCCTATTGGCTTGTGTACATCTATATGCTAAAATGACTTCCCCACATTGACATTTGTGCGCCACCTTTAATCACTCTGGGGCAACTCTCACATCTTGCTGCATGTACATGTATACGGCTACTATTGAAGTGTAATTGTGAGATGGACTCCAACAAGCATGTGACTGTGAGATTGTGTGTGGGAAAATGTATTTAACTACTCTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCACGCGCACACACTCACGCACACACAAGCAGAGAAGGCGCTGATCTTGAACTAATCCTGCACAGGCATCCTTCCCTTTATAGATTGATTCCAGCAAAGGCGGAATAAAACAAATTTCCTATGAAGAGAATCCTGATATGAAACAAGTCATGTAGTCTCATGGCCGGGAATCTCTCCACAGATACTAACAACTTAAACTTACTACTTTAGGAGAAAAAAAAAAACATTCAATTTCGGACACTGAGTTATATATGAAATTAATTAGGCTCTAGTCCAACAGTTGTTTACATTTTAAATAGTCCATATTGAATTTAATTAAAACAAGGGATGCATGCAGTCAAATTGATAGTTTAATTCTTCAAGTGATAATATAGGAAGTTTCACCTTGCCTTTGTCCAAGCCCCACCTATTAAAACCCTTTACTCACAGTTTGAAACTGAAGCAGTAAACTTGTTTCCAGACATCTTTTTCAGATTGTCTTAAGCCCAAAGTTGCCTCACTTCCACTATTCTCAGCAGCCAACCAGGATTTGGCAGCTGCTCCACTGTTACGGTTGAGGGAACAGGGATCAGTCCTGTTAGAAGTCTGTGAGCCTCAAACTCTACCTGTTCTCTGCAATCATCCAAAATTTGAAAAAGAAGCTATATCCAGTGTTTCACTGCCAAACAGATTCACTACTCTTACTGATTCTTCACTGAGCTTTGCTAGTATAAGCAGAGTTCCAAGTCTCCCCTAGGGTTGTCTCTACATTTCTTTATCATTCCAGTGGGTAGGGTTTAGCTGGGGGAAGGACATTTCATAAGGGTTAGTTGGACTGAGCAGTATGGACATTTGCTTTTTTCATTACGTACTGTTGTTTTTCCTTGTTAGGTGTGCTTTGGTGGTTTTAATATTATTGTGCCAGGGATGGGGAAATGGGGGGGGTTGTGTGGGAAGAGTACTTATTATTGTGTTTTCTTCAGTGTAATTGTTCTTGGTAATTGATACCTCTCTGTTTTATTTCTCTCATTCTTTCAAAATAAAACTTTTTGAAATTTGGAGGAAA)$ MSPQKRVKNVQAQNRTSQGSSSFQTTLSAWKVKQDPSNSKNISKHGQNNPVGDYEHADDQAEEDALQMAVGYFEKGPIKASQNKDKTLEKH*KTVENVAWKNGLASEEIDILLNIALSGKFGNAVNTRILKCMIPATVISEDSVVKAVSWLCVGKCSGSTKVLFYRWLVAMFDFIDRKEQINLLYGFFFASLQDDAL|KRAYKSYVRALPLLKKMGINSILLRKSIGALEVACGIVMTLVPGRPKDVANFFLLLLVLAVLFFHQLVGDPLKRYAHALVFGILLTCRLLIARKPEDRSSEKKPLPGNAEEQPSLYEKAPQGKVKVS* 05BR029 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 13 8 1 325 54 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCA)GGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05BR029 ENSG00000081913.14 ENSG00000148737.17(56666),ENSG00000238380.1(129081) +/+ ./- chr18:62905284 chr10:113224344 CDS/splice-site intergenic translocation 6 15 0 87 25 high out-of-frame . Leucine_Rich_repeat(100%),Leucine_rich_repeat(100%),PH_domain(100%)| . . ENSG00000081913.14 . ENST00000262719.10 . downstream downstream . ^(CATAATCCCCTGGAACGGCCGCGCACAACGCCATTGGCTTCTCCCTTCTCCGCGCGCCGCCGCCGTCTCCCACCTCCGCCTCATCGCCTCCCTCTCCGCCCGCTGCCTCCGGAGCTGGGGGGGAAACGCGAAGCCCCACTGCAATGGAGCCCGCCGCCGCGGCCACGGTACAGCGACTCCCCGAGCTCGGCAGGGAGGACCGAGCTTCGGCTCCGGCGGCCGCCGCTGCGGCAGCAGCAGCAGCAGCGGCGGCCGCGGCGGCTCTGGCGGCGGCGGCCGGGGGCGGCCGGAGTCCGGAGCCCGCGCTGACCCCGGCGGCCCCGAGCGGCGGGAACGGCAGCGGCAGCGGGGCGCGGGAAGAGGCCCCAGGCGAGGCGCCGCCGGGGCCGCTGCCGGGCAGAGCGGGGGGTGCCGGGCGCAGGAGGCGGCGCGGGGCGCCCCAGCCCATTGCCGGCGGGGCTGCCCCCGTACCCGGGGCCGGCGGCGGCGCCAACTCCCTCCTGCTGAGGAGAGGGCGGCTGAAGAGGAATCTGTCCGCGGCCGCCGCGGCCGCCTCCTCGTCGTCGTCGTCCTCGGCCGCTGCTGCCTCGCACTCCCCCGGCGCTGCCGGCCTCCCCGCCTCCTGCTCGGCCTCGGCGTCGCTGTGCACCCGGAGCCTGGACAGGAAGACGCTGCTTCTGAAGCACCGGCAGACGCTGCAGCTGCAGCCGTCGGACCGGGACTGGGTGAGGCACCAGCTCCAGCGCGGCTGCGTGCACGTCTTCGACCGCCACATGGCCTCGACCTACCTGCGCCCGGTGCTCTGCACACTGGACACCACGGCCGGCGAGGTGGCCGCCCGCCTGCTGCAGCTGGGCCACAAAGGCGGCGGCGTGGTGAAGGTGCTGGGCCAGGGGCCCGGAGCCGCCGCCGCCCGGGAGCCCGCTGAACCGCCCCCCGAGGCCGGCCCCCGGCTGGCGCCCCCGGAGCCGCGGGACTCGGAGGTACCGCCCGCGAGGAGCGCGCCGGGTGCCTTCGGGGGGCCTCCGCGCGCGCCCCCCGCCGACCTACCCCTGCCCGTCGGCGGCCCGGGCGGGTGGTCGCGCCGCGCCAGCCCAGCGCCCTCGGACTCCAGCCCCGGCGAGCCGTTCGTTGGGGGCCCTGTCTCTTCGCCCCGCGCCCCACGGCCTGTGGTCTCCGACACCGAGAGCTTCAGTCTGAGTCCCAGCGCCGAGAGCGTGTCTGACCGGTTGGACCCCTACAGCAGCGGCGGCGGCTCCTCGTCGTCGTCGGAAGAGCTCGAGGCCGACGCAGCCTCGGCCCCGACGGGGGTCCCGGGCCAGCCCCGCCGTCCCGGCCACCCCGCGCAGCCCCTCCCGCTTCCCCAGACGGCTTCCTCGCCTCAGCCGCAGCAGAAAGCCCCGAGGGCCATTGACAGCCCGGGCGGGGCCGTCCGCGAGGGGTCGTGCGAGGAGAAGGCAGCGGCAGCCGTGGCCCCGGGAGGCCTCCAGTCTACCCCCGGGAGGAGCGGGGTGACCGCGGAGAAGGCGCCTCCGCCGCCCCCGCCGCCCACCCTGTACGTGCAGCTCCACGGAGAGACCACCCGGCGCTTGGAGGCGGAGGAGAAGCCATTGCAGATCCAAAATGACTACCTCTTCCAACTGGGATTTGGGGAGCTGTGGAGGGTGCAGGAGGAAGGCATGGACTCGGAGATTGGCTGCCTCATCCGCTTCTATGCAG___GAAAACCTCACAGCACGGGTAGCTCTGAACGGATTCAGCTCTCAGGAATGTATAATGTCCGTAAAGGCAAGATGCAGTTGCCAGTGAACCGATGGACAAGACGCCAAGTCATCCTATGTGGGACCTGCCTGATAGTATCATCTGTGAAAGACAGCTTGACCGGAAAGATGCATGTTCTGCCACTAATTGGTGGAAAA___GTAGAAGAAGTGAAAAAGCACCAACACTGTTTAGCATTTAGCTCCTCTGGACCCCAAAGCCAGACTTACTACATTTGCTTTGATACTTTCACAGAATACTTAAGGTGGCTGCGACAAGTCTCCAAG___GTTGCATCCCAGCGCATTAGCTCAGTGGACCTCTCGTGTTGTAGCCTGGAACATCTGCCTGCCAACCTCTTCTACAGCCAAGACCTCACTCATCTCAATTTAAAACAAAACTTCCTAAGGCAGAACCCTAGCCTTCCAGCTGCCAGGGGGCTTAATGAACTGCAAAG___GTTCACCAAGTTGAAGAGTCTTAACCTTTCCAATAATCATTTAGGGGACTTCCCACTGGCAGTCTGCAGTATTCCAACCCTGGCAGAGCTGAACGTGTCCTGCAATGCCCTGCGATCAGTCCCGGCAGCCGTTGGAGTGATGCACAA___CTTACAGACATTTTTGTTGGATGGAAACTTTCTCCAATCCCTTCCTGCTGAGTTGGAGAACATGAAGCAGCTTAGTTATCTGGGTCTTTCTTTCAATGAATTTACTGACATTCCCGAAGTATTGGAGAAATTGACTGCTGTGGATAAACTTTGTATGTCTGGAAACTGTGTGGAGACCCTTAGGCTACAGGCTTTAAGAAAAATGCCTCACATTAAACATGTGGATCTAAG___GTTGAACGTAATTAGGAAGCTGATAGCA)GATGAAGTGGACTTTCTACAGCATGTTACTCAGCTTGACCTACGAGACAATAAGCTTGGTGATCTAGATGCTATGATTTTCAACAACATTGAAGTTTTACACTGTGAAAGGAATCAACTGGTCACATTAGACATCTGTGGCTATTTCCTAAAAGCGCTCTATGCCTCTTCTAATG___AACTTGTTCAACTTGATGTTTACCCAGTTCCAAATTATCTGTCCTACATGGATGTTTCAAG|AAAAGAAGAGAACGGCAGTGTCAACTCACCTCTGGTCTCTTCTTGTTAGCAAGTTCAAGAGACACTTGGCGATATTGACTGCAGAATACAAAGATGAAATTCAAGGGTTCCTAGAGGGTGTCTGTCCGTAGAAACAAAGGACATCCTCATCTTGAAAACGTAAGTAGTAGATGTACAGTCATGACTCATTCCCTT MEPAAAATVQRLPELGREDRASAPAAAAAAAAAAAAAAAALAAAAGGGRSPEPALTPAAPSGGNGSGSGAREEAPGEAPPGPLPGRAGGAGRRRRRGAPQPIAGGAAPVPGAGGGANSLLLRRGRLKRNLSAAAAAASSSSSSSAAAASHSPGAAGLPASCSASASLCTRSLDRKTLLLKHRQTLQLQPSDRDWVRHQLQRGCVHVFDRHMASTYLRPVLCTLDTTAGEVAARLLQLGHKGGGVVKVLGQGPGAAAAREPAEPPPEAGPRLAPPEPRDSEVPPARSAPGAFGGPPRAPPADLPLPVGGPGGWSRRASPAPSDSSPGEPFVGGPVSSPRAPRPVVSDTESFSLSPSAESVSDRLDPYSSGGGSSSSSEELEADAASAPTGVPGQPRRPGHPAQPLPLPQTASSPQPQQKAPRAIDSPGGAVREGSCEEKAAAAVAPGGLQSTPGRSGVTAEKAPPPPPPPTLYVQLHGETTRRLEAEEKPLQIQNDYLFQLGFGELWRVQEEGMDSEIGCLIRFYAGKPHSTGSSERIQLSGMYNVRKGKMQLPVNRWTRRQVILCGTCLIVSSVKDSLTGKMHVLPLIGGKVEEVKKHQHCLAFSSSGPQSQTYYICFDTFTEYLRWLRQVSKVASQRISSVDLSCCSLEHLPANLFYSQDLTHLNLKQNFLRQNPSLPAARGLNELQRFTKLKSLNLSNNHLGDFPLAVCSIPTLAELNVSCNALRSVPAAVGVMHNLQTFLLDGNFLQSLPAELENMKQLSYLGLSFNEFTDIPEVLEKLTAVDKLCMSGNCVETLRLQALRKMPHIKHVDLRLNVIRKLIADEVDFLQHVTQLDLRDNKLGDLDAMIFNNIEVLHCERNQLVTLDICGYFLKALYASSNELVQLDVYPVPNYLSYMDVSr|keengsvnsplvssc* 05BR029 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 6 13 0 30 23 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream mismatches(1) AAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGC(CTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05BR029 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 4 13 0 26 45 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream duplicates(1),mismatches(1) GCCCGAGCCGGCGCAGCGCAGCCCGCACCCTCCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACCTTAGTTTCAAATAGCC(ACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 05BR029 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 7 7 0 15 18 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(1),mismatches(1) GACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGAC(ATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 05BR029 ENSG00000159086.15 ENSG00000261780.3(336771),ENSG00000265380.1(24679) -/- ./- chr21:32748499 chr18:73686650 CDS/splice-site intergenic translocation 12 2 0 127 16 high out-of-frame . . . . ENSG00000159086.15 . ENST00000331923.9 . upstream downstream . ^(GGAGAGCGCGCGTGCGCCGTCACGAGCTCGGCGCTGCCGGGGCCGCGGTGTGGAAGCGAGTATTCGACCGCCGTGCGGGCCGCGGGGATGTTCCGAAAGGCCCGGCGGGTGAACGTGCGCAAGCGGAACGACTCCGAAGAGGAAGAGCGGGAACGCGATGAGGAGCAGGAGCCGCCGCCGTTGTTGCCGCCGCCGGGCACGGGCGAAGAGGCGGGCCCCGGTGGCGGCGACAGGGCCCCTGGCGGGGAGTCGCTGCTGGGCCCGGGGCCGTCGCCGCCTTCCGCGCTGACCCCGGGCCTCGGGGCTGAGGCCGGGGGCGGCTTCCCCGGCGGCGCGGAGCCCGGCAACGGGCTGAAGCCGCGCAAGAGGCCTCGCGAGAACAAAGAGGTGCCCCGGGCCAGCCTGCTCAGCTTCCAGGACGAGGAGGAAG___AAAATGAAGAAGTTTTCAAAGTGAAGAAATCAAGTTATAGCAAAAAGATAGTAAAATTGCTCAAGAAGGAATATAAAGAAGATCTTGAAAAATCGAAGATTAAGACAGAACTCAACTCATCAGCTGAAA___GTGAACAACCTTTGGACAAAACAGGACATGTTAAGGATACAAATCAAGAAGATGGAGTTATCATCAGTGAACATGGTGAAGATGAAATGGATATGGAAAGTGAAAAAGAGGAAGAAAAGCCAAAGACTGGTGGAGCTTTTTCAAATGCTTTATCTTCATTGAATGTTCTTCGTCCAG___GAGAAATTCCAGATGCAGCTTTTATACATGCTGCAAGGAAAAAGCGCCAAATGGCCCGAGAATTGGGAGATTTCACTCCTCATGATAATGAGCCTGGTAAAGGCCGCCTTGTTAGAGAAGATGAGAATGATGCCAGTGATGATGAAGATGACGATGAGAAACGCCGGATAGTTTTTTCTGTGAAAGAAAAGTCACAAAGACAAAAAATTGCTGAGGAAATAG___GAATTGAGGGGAGTGATGATGATGCTTTAGTAACTGGAGAACAGGATGAAGAGCTCAGCCGATGGGAACAGGAGCAGATAAGGAAAGGAATTAATATCCCTCAG___GTTCAAGCCAGTCAACCCGCAGAAGTGAATATGTACTACCAGAACACTTACCAGACAATGCCTTACGGCTCATCCTATGGCATTCCTTATAGTTATACGGCCTATGGATCATCAGATGCCAAATCTCAAAAAACAGATAATACAGTCCCTTTCAAAACTCCCAGTAATGAGATGACTCCCGTTACTATTGATTTGGTAAAGAAACAGCTTAAAGACAG___GTTGGACTCCATGAAAGAATTGCACAAAACAAATCGACAGCAGCATGAGAAACATCTGCAAAGCCGAGTGGACTCTACCAGGGCTATTGAAAGATTAGAAGGGTCTTCTGGGGGTATTGGTGAACGGTATAAATTTTTGCAAGAAATGCGAGGGTATGTCCAAGACTTGCTTGAGTGTTTCAGTGAAAAG___GTGCCACTGATTAATGAACTTGAATCAGCAATACATCAGCTGTACAAACAGCGAGCTTCCCGCCTTGTCCAAAGACGACAAGATGATATTAAAGATGAATCTTCGGAGTTTTCAAGCCATTCAA___ACAAAGCTCTGATGGCACCAAATCTTGACTCCTTTGGACGCGATCGGGCACTGTATCAAGAGCATGCAAAACGTCGCATTGCAGAGCGGGAGGCCAGGAG___GACTCGTCGTAGACAAGCCAGAGAACAAACCGGTAAGATGGCAGATCA)CCTTGAAGGCCTTTCCAGTGATGATGAAGAAACTTCTACAGATATTACTAATTTCAATCTGGAAAAAG___ATCGAATTTCAAAAGAATCCGGCAAAGTTTTTGAAGATGTCCTTGAAAGTTTCTATTCAATTGACTGTATTAAATCACAGTTTGAAGCATGGCGTTCAAAATACTACACATCCTACAAAGATGCTTACATTGGCCTTTGTTTGCCAAAATTATTCAACCCCCTCATACGACTTCAGCTCCTCACTTGGACTCCTCTTGAG|CATCAACATGTTCACCTCTGCTCTGGTTACAAGAGGGATGCAGTGTTCCAGGTGTCACATGGAGATAGCCGGGCATCTCATGAAGACAGGGGCATTTTTGTCCTTTGATACTTTCTATGAATAAGGAAAAAATTATCTGATATCTCCC MFRKARRVNVRKRNDSEEEERERDEEQEPPPLLPPPGTGEEAGPGGGDRAPGGESLLGPGPSPPSALTPGLGAEAGGGFPGGAEPGNGLKPRKRPRENKEVPRASLLSFQDEEEENEEVFKVKKSSYSKKIVKLLKKEYKEDLEKSKIKTELNSSAESEQPLDKTGHVKDTNQEDGVIISEHGEDEMDMESEKEEEKPKTGGAFSNALSSLNVLRPGEIPDAAFIHAARKKRQMARELGDFTPHDNEPGKGRLVREDENDASDDEDDDEKRRIVFSVKEKSQRQKIAEEIGIEGSDDDALVTGEQDEELSRWEQEQIRKGINIPQVQASQPAEVNMYYQNTYQTMPYGSSYGIPYSYTAYGSSDAKSQKTDNTVPFKTPSNEMTPVTIDLVKKQLKDRLDSMKELHKTNRQQHEKHLQSRVDSTRAIERLEGSSGGIGERYKFLQEMRGYVQDLLECFSEKVPLINELESAIHQLYKQRASRLVQRRQDDIKDESSEFSSHSNKALMAPNLDSFGRDRALYQEHAKRRIAEREARRTRRRQAREQTGKMADHLEGLSSDDEETSTDITNFNLEKDRISKESGKVFEDVLESFYSIDCIKSQFEAWRSKYYTSYKDAYIGLCLPKLFNPLIRLQLLTWTPLE|hqhvhlcsgykrdavfqvshgdsrashedrgifvl* 05BR029 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 12 0 18 33 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) CGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC---??CAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGG(TCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05BR029 ENSG00000054965.10 ENSG00000082805.20 -/- +/+ chr11:73597923 chr12:1180540 5'UTR/splice-site CDS/splice-site translocation 3 10 0 38 114 high out-of-frame . |FIP_domain_(100%),RIM-binding_protein_of_the_cytomatrix_active_zone(100%) . . ENSG00000054965.10 ENSG00000082805.20 ENST00000064778.8 ENST00000543086.7 upstream upstream duplicates(1) ^(CCTTCTGAGCGGTCCCCCGCCTCCTCCCTCCGCCTCCTCCTCCCTCGCCCGCAGCCGAGCGTCCCCTCCCCCCACC)CGTCGGGCTCCTCGGCGGCTACTGCAGAGGATTCAGAGCCGAGTCGCTGAGGAGGAGGCTCCGGTCCCCGCGCGCCATCCGCCACCCTACTGGACACGGGCGAGAGCGTCGCCGCCGTAGCCTCCGGAGAAGACAAGGGCATCGCCGCCTCAGCCGCCGCCGCCGCCGTTTTCGCCTGCAGCTGCTCACCG|ATTGAAAATCTTCAAGAGCAGCTTAGAGACAAGGAAAAGCAGATGAGCAGCTTGAAAGAACGGGTCAAATCCTTGCAGGCTGACACCACCAACACTGACACTGCCTTGACAACTTTGGAGGAGGCCCTTGCAGAGAAA___GAGCGGACAATTGAACGCTTAAAGGAGCAGAGGGACAGAGATGAGCGAGAGAAGCAAGAG(GAAATTGATAACTACAAAAAAGATCTTAAAGACTTGAAGGAAAAAGTCAGCCTGTTGCAAGGCGACCTTTCAGAGAAAGAG___GCTTCACTTTTGGATCTGAAAGAGCATGCTTCTTCTCTGGCATCCTCAGGACTGAAAAAGGACTCACGGCTTAAGACACTAGAGATTGCTTTGGAGCAGAAGAAGGAGGAGTGTCTGAAAATGGAATCACAATTGAAAAAG___GCACATGAGGCAGCATTGGAAGCCAGAGCCAGTCCAGAGATGAGTGACCGAATACAGCACTTGGAGAGAGAGATCACCAGGTACAAAGATGAATCTAGCAAGGCCCAGGCAGAAGTTGATCGACTCTTAGAAATCTTGAAGGAGGTGGAAAATGAGAAGAATGACAAAGATAAGAAGATAGCTGAGTTGGAAAG___GCAAGTGAAAGACCAGAATAAGAAGGTAGCAAATCTGAAGCACAAGGAACAGGTGGAAAAAAAGAAGAGTGCACAAATGTTAGAGGAGGCGCGACGACGGGAGGACAATCTCAACGACAGCTCTCAGCAGCTACAG___GACAGTCTCCGTAAGAAGGATGACAGGATTGAAGAGCTGGAAGAAGCACTAAGAGAAAGTGTACAGATAACTGCAGAGCGGGAAATGGTGCTAGCACAAGAGGAATCAGCCAGGACCAATGCTGAAAAACAG___GTGGAGGAGTTACTGATGGCCATGGAGAAGGTAAAGCAGGAACTAGAATCCATGAAAGCAAAGCTGTCCTCCACCCAGCAGTCTCTGGCAGAAAAGGAAACTCACTTGACTAATCTTCGGGCAGAGAGAAGGAAACACTTAGAGGAAGTTCTGGAGATGAA___GCAAGAAGCTCTTCTGGCTGCCATTAGTGAAAAAGACGCCAATATAGCTCTCTTGGAGCTTTCGTCCTCTAAGAAGAAGACCCAAGAGGAAGTGGCTGCCCTGAAGCGGGAGAAGGATCGTCTGGTACAGCAGCTTAAGCAGCAG___ACGCAAAATCGAATGAAGCTAATGGCCGACAACTACGAGGATGACCACTTCAAATCCTCCCATTCCAATCAAACAAATCACAAGCCCTCCCCAGACCAG___ATCATCCAGCCCCTCTTAGAACTTGACCAAAATAGAAGTAAATTAAAGTTGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGACCCCCTGATCCTCCGTGGACTCACTCCACCAGCTTCCTATAACTTGGACGATGACCAGGCGGCTTGGGAGAATGAGCTGCAGAAGATGACCCGGGGGCAG___CTTCAGGATGAGTTAGAGAAAGGTGAACGGGACAATGCAGAACTGCAGGAGTTTGCCAACGCCATTCTTCAGCAGATAGCAGACCATTGTCCCGACATCCTAGAGCAAGTGGTCAACGCCCTGGAAGAGTCCTCTTGACCCTGCTTTATGGGGAAGCCTGAGGTAGTCAACCCAGGAGCCAAGAAAAGAGAACTACGAGGAACAGGTGCCCGGAACCTTCTTGGCACCAAACACTACAAACTTCATCCCAACTTGCTCACTTGAAGAAGTGTGATTCCAGCACCGTTTCTACATCTGCCATCTTACTCTGCCTTTCTGCTTTGGATGTGGTCTCTACACTAACCTTCTTGATGTCCAGGGTAGATAAAGGGTCGAATCTCTCTGAAGAACTGCCACCTGGTCATCAGCAGTGGAGAACTGTGGGAGCTGGTGGCTCTGCCCTGACAGAGAGCCATGGAGCAGAGGAGCCTCTCACCTCCTGTCCTCTGACATGAGAATGAAACCAGGAATGGACTTGGAGTTCAACAGGCTGAGAGGATGCCTCCAATGGACCAGAGAGCTGAGTGTTCTAATATCACAATAGGTGCTTTCTCCTAAAAGGGCAAAAAACAATCTCAAAAAGATTAGAAAAAGAGAAGGGGGGAAGGGAAGAGAAAATCGACTCTTCTTTTTACTGTCTCTTCTGCTTACTTTCCACATGAGATGCTTTGTACCGGGGAGCTGTGAGCAGGCCTCACGATGGCTTGGGAGCACTCGTTCTCCCAAGGTCTGAGTCTTCATCCAGCCCTGCCTGTCTGTCGCAGCCTTCCTCACTCTGTTCCTCGGCCAGTTAACAAGAAGATGGTGTGAGGTGTTCTCCACCAGTCTCTCCTGTTTGAGACTGTTGACGTTATCATACTGAGGTGTTAGATCAAATATCTCTAATTGAAGAACATGTGAGGTTGAAAGAGCACCAGCCAGGGCAACATAGCGTGACCCTGTCTCTACAAAAAATTAAAAAGAGAACATACAAAGTTGACATATGAGACCCTGTTGTCCCCGCCTGCAGCTTTGCCCCAGTAACAGATGCCCGTTGCTCTTGGGCTGGTTTCCCCTGAACACCTCCAAGAGGCTGCCTGCCTTGCCAGCACCCGTGTCCTGAGCTCCTGCAGCCCAGTGGCTGCTGAAGTTGTGATCCCTCACTCACCCTGCTAGCTTTGCCCTTGACTCGTCTTCTCTGAACCTCAGCCTCGTGCATTGCCTGGAACCTTCTTCTAGCATAAATGAAGGTTTTTCCTCCTACACACATTCCTTCCTCGGTTATTTCATTCAGAGAATATTTATGAAATGCCTACTGTGTGCAAGTCATCCATCCTTGAAAAGGCCACTTCTCAGTGAGGGAGAGATGTAGTGGATTCTGTGAGACATACCTGCTGGAGTTGAAGCAGTAAATAGCATGTCCTTCCCCTCCCCGATCTTAAGGTGTGTTTTCTAGAAAAGTTCCCTAATGGAATTCATGAGTTTGGGGGTCTCAGTCACCCGCTTGCCTGTAGGATTCCATTTGATGATTCTGGATTTTTGCTGTTTGTTATTGCCCTTAGAGGGGCTCTGAGTATCTACTTGTGGGTGGCCATTTCCTGACATCTGCATGTACCTCGTGGAATTCAGCCAGCTTCATGTTGCAAATCAGAAAGCTGACCCCAAGACTGCAAATCAATGAAGGTATTGGCATTGTTAAGGACGTAGCGTAGACAACAGCAGTCATAAATAATTAGGCAGGAACTTAACCCAAATCTAGTTCTTTGACCACCTCTACCACCAGAACCCAGCAGACACTCACATCTCCTGATAAGAGTTGCTGGACTCGATGTTTTTGTTTTGCATTTTCTCCTCTCCTTCCCCACTTACTCAGAGAATTTAAAGTCTGTAGAGTCAGCACAGCCCCATCAGTCCAGGAACTTCCCACCACCAGCCCTTGACTGTCCCATTAACTGACATGGTCAGATTTCCAGCTCCCCCTACTCCCTGCTGTGAAACAATCCCTCTCCCTGTGAGAGGAAACTGTGGAGCGTTTCTTATCGAAGGTTAAATGGACTCTGCTCATAAACCTCTTACTGAGATGCTTCCTGATAGCCAGGCTGGCCAGAGAGGGGTGCAGGGGTTAGATAGTAAGTGGTGGTCGTTTGTGGTCAGTTACCTCAATTCTGTTCATTGCAGTGCCCGTAAACCATGTAGAAAGCTCCCAGCACTGAAAGGCAGGAGTGTTAGCATCTCGCTTTATCCACCATAACGTAAAGAACTGCGGTGTGATAACAGCCTTCACGGGGCCACGGTGGAACCAAGACAGCAGGCGAGGCCATGCCTAAACAAGTGGTCTGGCACGGGCACTGGCCAGCTGCTCTCTCCAAGCAGGTGGCCCAGATCCCACCCACGTGGACTTTCTCATCAGGTGCAGCGCCTGCCACTCTCAGCCACTGGGTGTGTCACTCTCCTCTTCATCTCAGCATTCTCCATCACTTCCCCTCCAGAAAAACGGATGGAAGGAAGCCCTCTGTGACACTGCTTCTGAGAAGAAGCATTTCCGGGACCGATATCATCTGTCTGGTCTCTGTGAACAGCAAGGAATCTTCTTGACCGTTCTTGGGCACTGGAGGCTGGCTAGGAGTTCAGTAATAAACGTGGCCTTCGTGCTGTAGGGCAGAGTGGATGCAGTTTGTAGCTTTCAGAGTGTCTCATTGAGTCTAGATCATTGAACCAACACTTAACCAAATGTCCCACTCCCATCACACTAGGACTTGTCATTCCATGCCCCTCTCCTAGTGGTCATGGTTTCATATGGGCATACAACTGCTACTGAAGTTATATAGCCTTGAAAACTCAGTGCAGGTTGCCCTTAATTTTCCCCAAACCCCTCCATCGGCAAGTCTAGTTGCCCTTTAGCACCTAAAGATCTGCACCCCAAACCAATGTCACCATAAAGAGGGCACGAAGAAGAGTGGGTGTGATCCCAACGGGGTTTTGTAACTGAAGAAGCCCAGTGTGAGCTTCTCATCTTTTCATATACCTCTAACCCCCGGTACTCATTGAATCATTGATGAGGTATCTCAATTGAGATTTGCAAGGACTTTGATACCATTTGAAATGGAAAAATTTTGAACGGGCTTTAACATGTTTAAGAAATATGGATGGGGCCGGCCACAGTGGCTCACGCCTGTAATCCCAGAACTCTGGAAGGCTGAGGCAGGCGGATCACCTGAGATCAGGAGTTCGAGGCCAGCCTGGCCAAGATGGCAAAAACCCCGACTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCGTACGCCTGTAATCCCAGCTACTCAGGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGGCTGCGGTGAGCCGAGATCGTGTCACTGCACTCCAGCCTGGGTGACAGAGACTCCATTTAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATGGATGGGAATCACCAAATTCATCTCAGCTCTAACCTTTTAACCTTTGTCCTTGCACTTTACAATCTAAAGATCTACCTGTGGCTCTCAGACTTCCTCACACTTGGGTTTTAGAAATAACTTGTAAAGCAGACTGGACCCAAGGCCGCCTTCAGTGTCAAGAAGGGCATTGTGACTTGCCCCTCAATTTCTGTCCATTGAAGTCTGGTTTTCCATGAGGAACTTGCGGGCTCACCCACCCCCAGAGTGAGAGAAGAGGAAGGCGAAGTCATCACAGACACGGTCTTAGCCACCTGCTGAACTAATCCCTCCGCTATTGAGGGTCAGGGTTGTGAGGCAACCATCATGTGTCACCCCAAAATATAAATGTTTCTGAGCCGCCCATCCACTGGCATTTGGATTTGCTGCCAGAGTCCTGTTCCTCCCAGAACCATCCCGCCCTCCTGTTGACCATGTTACTTGAGTGTAGGCCCGGTGTCAAGACCCTCAGAGTCTTTGAGGAAAGAGCCAAGCAGAGAAGACCGCTGCGTGGAGTGTGACACCACATGGCATTTCTCAAGCCCAGCGGACCCTGTGTCAGCAAATACCAGTAATTTAACATCTGCTCCTGGCCTCCTCTTCACCTGCCTGGGTTCGGAACTGAGGAGGAAGGATGAGAAGAGACTGCAATGCAGCAGGCACCCTCTGCAGAGTGAGGCCGCCCGTCCATCACTGCCAGCCCTGGGCTGCTCAGGAGGGGACGTGAACCACTCAAAGGAATGTCTTAAAGAGGATCTGGAGTTTCCCCCATGCAAATTAGGGAAGAATTAGGCAAGAAAAGACATACATTACAGGGAAATCCTTCTGAACAAAATGGCTGTCTTCACCTACTCTTCTTGCAAGAAAAGACATACATTACAGGGAAATCCTTCTGAACAAAATGGCTATCTTCACCTACTCTTCAGCAAAAACCGTCTCCAGACTTTTTAGTGTCAAAAATGTAACCAACTGTCTCCTGATTTTTTCCAATGTGTTTGGCAAGTGCTGTGGCCCTGTTGTAGGTACTTCTCCTGACTCTTGGGGGAGAAGTGGTTTTAGGGATTGATTTGGGGGAGCGGGTTTTTGTCCCATCCCACCTCCTCTCTTCTTTCTCTGCTTGTCGATATTGTCTGTGTGATTCAGAGAATTGGGGCAGTTACATTGTGTCTGTTGTTGAGATTATTAAAAGATTAAAACGTAGTTGTAGAAATGAAAAATTAAACAGCTGTGTTTTAAAAATGCAAACCAATATCTTGTTAATAAAGGAATTCAAGCTATGGGGCAGCCACACTCCCCTCCTCCCAGGCTGGCATAGGTGGCCCTGGGCTGGCGGCTTAGGAAGCATGGAGCACACTTAGGGTAGTGCCTGCCTGGGCAAGAGACACCTGCCGAGCAAAAGGAACGAGAATCTGGGGCTCAGAGCCTCGCAGTTGTGCCAGGATTTTCCTATACATGTTCAGGACCTCTGGGTAGAGGTTTCACAGTTTGTGACCCCATAACCACCCTCACCCGACGTGGGTTCTAGCTCAGTGTGCCTAATACTGCATGGTAACCTGGGCTTGACCCTGAAGCCCCTGCCTGGCAGGCCACAGGACCTCTCCTGCCCACTTGGTGCTATCTCTTCCAGTGACCACCCAGCACGGGTGAGCACTGGCCAGCCTGGAGCCTGCAATCCAGGTGGAACAGACTGTCCTCCATGTCAGTTCCTTCTGGCTTCAGGCCCTCAATTATTTCCCTTTGAGCTTTTTTAGACCCTAGATCTCCTAGGCCCAGGCTCTCTCTTGACCCCAGAGAAGCCACTGTCAGGAAAGGAAGTGAACCCTACTGAAGCCAGAGAATTCACCCCGGCCAAAGCAGGCCCTCTGGGTCCAGCCCCTCATTCCACACCACGCCAGTATTGCATCCATCTACTGCAGCTACACATCCTGAGGGCAGCACCACCCACTCTGGCCTGCTGGCCCATCGCAGGACTAGCCCAGGCACCTGCCGGGCATTGCAGGATATCCAGTGGGGCCTGTGACTGCTCCCTGATGCGTCAGAAGAGAAGTGTTGCACTTTAGTGGAGGAGCTGAGGAGCACCTGCCCCCTTGTAGCTTGAGTTCCTTTTGGTAACAGTAGCAGCCTCCATGGTGGTGTCTGGGATGCACGTGCACCCGCTGCCTTCAGCTGTATGTGTGTGTTCCTGCTGGAGTTGTGTTACTGACAGGATAATGACATTACAAAGAAATTGTGTTATATTCAACTTTGCCTTGATAATTATTGTAAACACTTTGTTCATTTTTTCTTTTTTATTCACAAACTAAATCCACCAGGAAATTATAAAGTTATTTAAAAACCGT)$ IENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIERLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKAHEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERQVKDQNKKVANLKHKEQVEKKKSAQMLEEARRREDNLNDSSQQLQDSLRKKDDRIEELEEALRESVQITAEREMVLAQEESARTNAEKQVEELLMAMEKVKQELESMKAKLSSTQQSLAEKETHLTNLRAERRKHLEEVLEMKQEALLAAISEKDANIALLELSSSKKKTQEEVAALKREKDRLVQQLKQQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLCHDRDPLILRGLTPPASYNLDDDQAAWENELQKMTRGQLQDELEKGERDNAELQEFANAILQQIADHCPDILEQVVNALEESS* 05BR029 ENSG00000162613.16(527),ENSG00000273338.1(24727) ENSG00000162616.9 ./+ +/+ chr1:77979619 chr1:78013051 intergenic CDS/splice-site deletion/read-through 9 3 0 25 48 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream duplicates(2),mismatches(2) CTGGGTAATTGTTCCTGCAGGGTGGTGGGTGATAGTGGCCAGTTGACTGCGACTGTGTTTGGGTGGTGGGAAGCCgGAgGtgAAGGTTGTTTCTTACCGGTCGCTGCCgCAGGGAGGTAGTGCGGTAGAATTTTCCGCTATGGGTCATTCTCGGTGTCCGCGGGGAAGGGCGTGACAACGACGGGCGTGACGGCGAAGCAACAGTGTCTCGAGAGCGCTGCCGCCCGGAGGGCGCCAGGAGAAGTGCGTCCGAGACGCCGCGCGGTGATGCTCCTGAAAACGTCTGCCCGGCGTAGCGGGAACCCAGCATGATTTTCAGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTG(GTGGTAGAGATTCTGAAGAAATGGAAATAGATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGGAATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGATATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 05BR029 ENSG00000174437.17 ENSG00000173726.11 +/+ -/+ chr12:110296737 chr1:235123823 CDS/splice-site intron translocation/5'-5' 2 8 0 133 21 high out-of-frame . Cation_transporter/ATPase__N-terminus(100%),E1-E2_ATPase(100%)| . . ENSG00000174437.17 ENSG00000173726.11 ENST00000308664.10 . downstream upstream . ^(GCGCGGGAGGAGGGAGCCGGGAGGAGGGGGCGGGGCCGCGCCGCCCGCGCCGCGCTGGGCGCTCTCGGCCAATGAGCGGCGTCCACATGCCGCGGCGGCGGCGAAAGGGGAGGCAGCGGCCGATAAATGCTATTAGAGCAGCCGCCGCGGAGCCGTCCCCGACGCCACCTCCTTTTCCTTCGCCGCAGTTTCCTCCGCCGCTGTCGGGCGTGCGGCGCTGAGGGACCCGGGCGAGCGCGCCGCGCACCGCCCCGCCGGCTCGCCTCCCTCGCCGCGTTCCGCCCTCAGTGGTCTGCCGGGCGCCCCCTCCTCCGGCCCGGGCGGGGCCTCTGATCGCCTCAAGAGAGCGGGGAGGGGGCTCGGGGGCCGCGGCCTGCCCTCCCGGCGGGCGGCTGAGGGCGAGGGAGGCCCTCCCTTCTGGCGAGGGGAGGGAGGGTGGGTCAGGAGCCCCCAACCCGCCCTGCGGAGCTCGGGGCCGCGCGAGGGGCGGTTGTCTGGGGGAGGGGGCGCGGGGTGATTCAGCGCCCGGCGAGGCGGAAGCGGCCGCAAGAGGAGGAGGGGAGAGCCCGTCCGCGCCTGGGCTCCCGGGGTGGCACGAGCCCGCGGCCGGAGTGCGAGGCGGAGGCGAGGAGGCCGCGGGGACGGGAGGCGAGGCCGGCCGGGCCCCCGAAGCCATGGAGAACGCGCACACCAAGACGGTGGAGGAGGTGCTGGGCCACTTCGGCGTCAACGAGAGTACGGGGCTGAGCCTGGAACAGGTCAAGAAGCTTAAGGAGAGATGGGGCTCCAACG___AGTTACCGGCTGAAGAAG___GAAAAACCTTGCTGGAACTTGTGATTGAGCAGTTTGAAGACTTGCTAGTTAGGATTTTATTACTGGCAGCATGTATATCTTTT___GTTTTGGCTTGGTTTGAAGAAGGTGAAGAAACAATTACAGCCTTTGTAGAAC)CTTTTGTAATTTTACTCATATTAGTAGCCAATGCAATTGTGGGTGTATGGCAG___GAAAGAAATGCTGAAAATGCCATCGAAGCCCTTAAGGAATATGAGCCTGAAATGGGCAAAGTGTATCGACAGGACAGAAAGAGTGTGCAGCGGATTAAAGCTAAAGACATAGTTCCTGGTGATATTGTAGAAATTGCTG|GCAGAAAATAATGAGTGATAACAGACAACAATATCTAATTGCTAAATATCGTGGTCTACACTGGAACCTGTACTGGAGGGAGCGTAGCAAAACTAGAAAAGAAATGGAAGACTTCAAAGGATCTGGACATGAAGACAAGGAACGCTTGGAT___GACAATAACCCGAAG MENAHTKTVEEVLGHFGVNESTGLSLEQVKKLKERWGSNELPAEEGKTLLELVIEQFEDLLVRILLLAACISFVLAWFEEGEETITAFVEPFVILLILVANAIVGVWQERNAENAIEALKEYEPEMGKVYRQDRKSVQRIKAKDIVPGDIVEIA|grk* 05BR029 ENSG00000105186.16 ENSG00000197321.15 -/- -/+ chr19:32639356 chr10:29627479 CDS/splice-site intron translocation/5'-5' 3 1 2 69 8 high out-of-frame . Vacuolar_sorting_protein_9_(VPS9)_domain(100%)| . . ENSG00000105186.16 ENSG00000197321.15 ENST00000306065.9 . upstream upstream . ^(AGGGCCAGATCGCCGCGCGAGGGTGGTGGGCATCGAGGTCCCAGCAGCGGACGAGGGAGGTGCCGCCGTCGCCCAGGATGGGCTGGGAATGAAGCGATGTAGCCTTTTAA___GAGATTTGCTCTGACCCATCTGAAGTCCATATGGCTCTGTATGATGAAGACCTCCTGAAAAATCCTTTCTATCTGGCTCTGCAAAAGTGCCGCCCTGACTTGTGCAGCAAAGTGGCCCAAATCCATGGCATT___GTCTTAGTACCCTGCAAAGGAAGCCTGTCGAGCAGCATCCAGTCTACTTGTCAGTTTGAGTCCTACATTTTGATACCTGTGGAAGAGCATTTTCAGACCTTAAATGGAAAG___GATGTCTTTATTCAAGGGAACAGGATTAAATTAGGAGCTGGTTTTGCCTGTCTTCTCTCAGTGCCCATTCTCTTTGAAGAAACTTTCTACAATGAAAAAGAAGAGAGTTTCAGCATCCTGTGTATAGCCCATCCTTTGGAAAAGAGAGAGAGTTCAG___AAGAGCCTTTGGCACCCTCAGATCCCTTTTCCCTGAAAACCATTGAAGATGTGAGAGAGTTCTTGGGAAGACACTCCGAGCGATTTGACAGGAACATCGCCTCTTTCCATCGAACATTCCGAGAATGCGAGAGAAAGAGCCTCCGTCACCACATA___GACTCAGCGAATGCTCTCTACACCAAATGCCTCCAGCAGCTTCTGAGGGACTCTCACCTG___AAAATGCTCGCCAAGCAGGAGGCCCAGATGAACCTGATGAAGCAGGCAGTGGAG___ATATACGTCCATCATGAAATTTACAACCTGATCTTTAAATACGTGGGGACCATGGAGGCAAGTGAG___GATGCGGCCTTTAACAAAATCACAAGAAGCCTTCAAGATCTTCAGCAGAAAGATATTGGTGTGAAACCGGAGTTCAG___CTTTAACATACCTCGTGCCAAAAGAGAGCTGGCTCAGCTGAACAAATGCACCTCCCCACAGCAGAAGCTTGTCTGCTTGCGAAAAGTGGTGCAGCTCATTACACAGTCTCCAAGCCAGAGAG___TGAACCTGGAGACCATGTGTGCTGATGATCTGCTATCAGTCCTGTTATACTTGCTTGTGAAAA)CGGAGATCCCTAATTG___GATGGCAAATTTGAGTTACATCAAAAACTTCAGGTTTAGCAGCTTGGCAAAGGATGAACTGGGATACTGCCTGACCTCATTCGAAGCTGCCATTGAATATATTCGGCAAGGAAGCCTCTCTGCTAAACCCCCT|ATAAAATCTTCCTCCTGCACCGAGAGCAGGGAAAACACTTCTTTGGACTTTTGGGGAGGTAGGTGAATGAATGAAGGAAACAAAGCATGTTGGCTGTTATGGCCCCTACATCACTTTGCTCTGCTGTGTTCTCCACGCCACGTGCCC MALYDEDLLKNPFYLALQKCRPDLCSKVAQIHGIVLVPCKGSLSSSIQSTCQFESYILIPVEEHFQTLNGKDVFIQGNRIKLGAGFACLLSVPILFEETFYNEKEESFSILCIAHPLEKRESSEEPLAPSDPFSLKTIEDVREFLGRHSERFDRNIASFHRTFRECERKSLRHHIDSANALYTKCLQQLLRDSHLKMLAKQEAQMNLMKQAVEIYVHHEIYNLIFKYVGTMEASEDAAFNKITRSLQDLQQKDIGVKPEFSFNIPRAKRELAQLNKCTSPQQKLVCLRKVVQLITQSPSQRVNLETMCADDLLSVLLYLLVKTEIPNWMANLSYIKNFRFSSLAKDELGYCLTSFEAAIEYIRQGSLSAKPP|iksssctesrentsldfwggr* 05BR029 ENSG00000000457.14 ENSG00000100412.16 -/- +/+ chr1:169853705 chr22:41515377 3'UTR CDS/splice-site translocation 2 1 0 95 38 high stop-codon . Protein_kinase_domain(100%)|Aconitase_C-terminal_domain(100%),Aconitase_family_(aconitate_hydratase)(100%) . . ENSG00000000457.14 ENSG00000100412.16 ENST00000367771.11 ENST00000396512.3 upstream upstream . ^(GTAGTGGCCACAGCCTTACAGGCAGGCAGGGGTGGTTGGTGTCAACAGGGGGGCCAACAGGGTACCAGAGCCAAGACCCTCGGCCTCCTCCCCCGCCGCCTTCCTGCAG___ATCTGCTTGGCTTTGAGGAAGAGTGGCAGTACTGCCTCACTGCATAAGGGATGGGATCAGAGAACAGTGCTTTAAAGAGCTATACACTGAGAGAACCACCATTTACCTTACCCTCTGGACTTGCTGTTTATCCCGCTGTACTGCAAGATGGCAAATTTGCTTCAGTTTTTGTGTATAAGAGAGAAAATGAAGACAAGGTTAATAAAGCTGCCAAG___CATTTGAAGACACTTCGTCACCCTTGCTTGCTAAGATTTTTATCTTGTACTGTGGAAGCGGATGGCATTCATCTTGTCACTGAGCGAGTACAGCCCCTGGAAGTGGCTTTGGAAACATTGTCTTCTGCAGAGGTCTGTGCTGGGATCTATGACATATTGCTGGCTCTTATCTTCCTTCATGACAGA___GGACACCTAACACACAATAATGTCTGTTTATCATCTGTGTTTGTGAGTGAAGATGGACACTGGAAGCTAGGAGGAATGGAAACTGTTTGTAAAGTTTCTCAGGCCACACCAGAG___TTTCTGAGGAGTATTCAGTCAATAAGAGACCCAGCATCTATCCCTCCTGAAGAGATG___TCTCCAGAATTCACAACTCTCCCAGAGTGTCATGGACATGCCCGGGATGCCTTTTCATTTGGAACATTGGTGGAAAGTTTGCTCACAATCTTAAATGAACAGG___TTTCAGCGGATGTTCTCTCCAGCTTTCAACAGACCTTGCACTCAACTTTGCTGAATCCCATTCCAAAATGTCGGCCAGCGCTCTGCACCTTACTATCTCATGACTTCTTCAG___AAATGATTTTCTGGAAGTTGTGAATTTCTTGAAAAGTTTAACATTGAAGAGTGAAGAGGAGAAAACGGAATTCTTTAA___ATTTCTGCTGGACAGAGTCAGCTGCTTGTCAGAGGAATTGATAGCTTCAAGGTTGGTGCCTCTTCTGCTTAATCAGTTGGTGTTTGCAGAGCCAGTGGCTGTTAAGAGTTTTCTTCCTTATCTGCTTGGCCCCAAAAAAG___ATCATGCGCAGGGAGAAACTCCTTGCTTGCTCTCACCAGCCCTGTTCCAGTCACGGGTGATCCCCGTGCTTCTCCAGTTGTTTGAAGTTCATGAAGAGCATGTGCGGATGGTGCTGCTGTCTCACATCGAGGCCTACGTGGAGCACTTCACTCAGGAGCAGCTGAAGAAAGTCATCTTGCCACAG___GTTTTGCTGGGCCTGCGTGATACTAGCGATTCCATTGTGGCAATTACTCTGCATAGCCTAGCAGTGCTGGTCTCTCTGCTTGGACCAGAGGTGGTTGTGGGAGGAGAACGAACCAAGATCTTCAAACGCACTGCCCCAAGTTTTACTAAAAATACTGACCTTTCTCTAGAAG___GCGATCCATTTTCTCAGCCTATTAAATTTCCCATAAATGGACTCTCAGATGTAAAAAATACTTCGGAGGACAGTGAAAACTTCCCATCAAGTTCTAAAAAGTCTGAGGAGTGGCCTGACTGGAGTGAACCTGAGGAGCCTGAAAATCAAACTGTCAACATACAGATTTGGCCTAGAGAACCTTGTGATGATGTCAAGTCCCAGTGCACTACCTTGGATGTGGAAGAGTCATCTTGGGATGACTGCGAGCCCAGCAGCTTAGATACTAAAGTAAACCCAGGAGGTGGAATCACTGCTACAAAACCTGTTACCTCAGGGGAGCAGAAGCCTATTCCTGCTTTGCTTTCACTCACTGAAGAGTCTATGCCTTGGAAATCAAGCTTACCCCAAAAGATTAGCCTTGTACAAAGGGGGGATGACGCAGACCAAATCGAGCCGCCAAAAGTGTCATCACAAGAAAGGCCCCTTAAGGTTCCATCAGAACTTGGTTTAGGAGAGGAATTCACCATTCAAGTAAAAAAGAAGCCAGTAAAAGATCCTGAGATGGATTGGTTTGCTGATATGATCCCAGAAAT)TAAGCCTTCTGCTGCTTTTCTTATATTACCTGAACTGAGGACAGAAATGGTCCCAAAAAAGGATGATGTCTCCCCAGTGATGCAGTTTTCCTCAAAATTTGCTGCAGCAGAAATTACTGAG___GGAGAGGCTGAAGGCTGGGAAGAAGAAGGGGAGCTGAACTGGGAAGATAATAACTGGTGACAATAGAT|ATTATTCTGGAAAACTATGCGTACCCTGGTGTTCTTCTGATTGGCACTGACTCCCACACCCCCAATGGTGGCGGCCTTGGGGGCATCTGCATTGGAGTTGGG(GGTGCCGATGCTGTGGATGTCATGGCTGGGATCCCCTGGGAGCTGAAGTGCCCCAAG___GTGATTGGCGTGAAGCTGACGGGCTCTCTCTCCGGTTGGTCCTCACCCAAAGATGTGATCCTGAAGGTGGCAGGCATCCTCACGGTGAAAGGTGGCACAGGTGCAATCGTGGAATACCACGGGCCTGGTGTAGACTCCATCTCCTGCACTGGTGAGGAAGGCGGCCAGGCGACGTGGCCCCTACCCTGTGCTGGGCCTGATGGGTCTCCAGTTGGGAGTAGAAGCG___GCATGGCGACAATCTGCAACATGGGTGCAGAAATTGGGGCCACCACTTCCGTGTTCCCTTACAACCACAGGATGAAGAAGTACCTGAGCAAGACCGGCCGGGAAG___ACATTGCCAATCTAGCTGATGAATTCAAGGATCACTTGGTGCCTGACCCTGGCTGCCATTATGACCAACTAATTGAAATTAACCTCAGTGAG___CTGAAGCCACACATCAATGGGCCCTTCACCCCTGACCTGGCTCACCCTGTGGCAGAAGTGGGCAAGGTGGCAGAGAAGGAAGGATGGCCTCTGGACATCCGAGTGG___GTCTAATTGGTAGCTGCACCAATTCAAGCTATGAAGATATGGGGCGCTCAGCAGCTGTGGCCAAGCAGGCACTGGCCCATGGCCTCAAGTGCAAGTCCCAGTTCACCATCACTCCAGGTTCCGAGCAGATCCGCGCCACCATTGAGCGGGACGGCTAT___GCACAGATCTTGAGGGATCTGGGTGGCATTGTCCTGGCCAATGCTTGTGGCCCCTGCATTGGCCAGTGGGACAG___GAAGGACATCAAGAAGGGGGAGAAGAACACAATCGTCACCTCCTACAACAGGAACTTCACGGGCCGCAACGACGCAAACCCCGAGACCCATGCCTTTGTCACGTCCCCAGAG___ATTGTCACAGCCCTGGCCATTGCGGGAACCCTCAAGTTCAACCCAGAGACCGACTACCTGACGGGCACGGATGGCAAGAAGTTCAGGCTGGAGGCTCCGGATGCAGATGAGCTTCCCAAAGGG___GAGTTTGACCCAGGGCAGGACACCTACCAGCACCCACCCAAGGACAGCAGCGGGCAGCATGTGGACGTGAGCCCCACCAGCCAGCGCCTGCAGCTCCTGGAGCCTTTTGACAAGTGGGATGGCAAGGACCTGGAGGACCTGCAGATCCTCATCAAG___GTCAAAGGGAAGTGTACCACTGACCACATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGTGCCATCAACATTGAAAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTACAAG___AAACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCACCTTGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATCCACG___AGACCAACCTGAAGAAACAGGGCCTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTACAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAG___CCCCTGAAGTGCATCATCAAGCACCCCAACGGGACCCAGGAGACCATCCTCCTGAACCACACCTTCAACGAGACGCAGATTGAGTGGTTCCGCGCTGGCAGTGCCCTCAACAGAATGAAGGAACTGCAACAGTGAGGGCAGTGCCTCCCCGCCCCGCCGCTGGCGTCAAGTTCAGCTCCACGTGTGCCATCAGTGGATCCGATCCGTCCAGCCATGGCTTCCTATTCCAAGATGGTGTGACCAGACATGCTTCCTGCTCCCCGCTTAGCCCACGGAGTGACTGTGGTTGTGGTGGGGGGGTTCTTAAAATAACTTTTTAGCCCCCGTCTTCCTATTTTGAGTTTGGTTCAGATCTTAAGCAGCTCCATGCAACTGTATTTATTTTTGATGACAAGACTCCCATCTAAAGTTTTTCTCCTGCCTGATCATTTCATTGGTGGCTGAAGGATTCTAGAGAACCTTTTGTTCTTGCAAGGAAAACAAGAATCCAAAACCAGTGACTGTTCTGTGA)$ . 05BR029 ENSG00000158321.18 ENSG00000225718.2 +/+ -/+ chr7:69599962 chr7:69349221 CDS/splice-site intron duplication/5'-5' 1 2 0 9 4 high out-of-frame . . . . ENSG00000158321.18 ENSG00000225718.2 ENST00000342771.10 . downstream upstream . ^(AGTGCCCGGGCTCCCGCTGCAGCCGCCCGGGGACACGCCGTGCACCCTCCGGCTCGGGGCTTTCTCGGCGGCGGCGGCGGCAGCAGCAGCAGCGTTAGCGGCGGCGGCGAGAGCAGCGTTCCCGGCTGCGCTTCTCCCTCAGGCGGGGCGGCGAGAGAAGCGGCGGCGGCGGCGGCGGCACACCGGTGTCTCTCCCGCTGGAGATTTCTTTCTGCTTTCCTCATCGACTGACTGACTCACCCCCTCCCTTTTTTGAGGAAGGGTGACCTCTTCTCTGGGACTGGAAAAAATATTTTTGTGAGGAGGGGGGCGGGTGGCAGCGACAGGGTTTGCTTCTTCTCTTCTTTCATCTCCCTCTCCTCCCCCCTCGAAGACCGAAAAGCAAACCCCACAACTGCTCCAGCAGCATCCTCCTTCCCTTCCTCCGCCTCCCTTCTCCTCCGCCGCTCGCAGTTTCGCCCTCTCTTCCGCTAATGATTGCATTATTATGCTCCCCTCTCTGGGGGGTCTCGCCCCTCTTGGGTCGCTCCGGAGCCCCGGCCTCCCCTGGCTGCATTTCTTAAAAATTTGGGAGCCTGGGAGTGAGTTTTCTCCGAGGCGTGTGTGAGAGGCGGCGGGGGTGTTTTCCTGCGCGAGGGGCGGGTGAAGTTCATTGCCCCCACTTTTCCCGCGACCTTTTTCGGACCCGATTTTGGATCGAGTTGAGGGGGGCGCGGGCGTTTTCGGGGGGCGGGGGGCGCGGCGGAGAATGGCCGCGGGGAGGGCTCCCCGGAGCCTCCCAGTCTCTTGATCAAAGCATTCCGCTATTCTGATTTATTGCTTGCTTGGTGAGTTATTTTTTTTTCCTCTAAAGGAGACCTGTGTGTTCAGCCATTACTTTGCTCGGCGCTGCTCCCAGGCATCTCCGACCCTCGGTGCTGTGGGGAGCCCCACACTTGGGCTCCTCGCCTCTCGCCCTCGCTCCCCGTCCCTCCTCCCCTCTCTCCGCCCCTTCCCCCTTTTCTTTCTCCTCTCTTTCTTCCCCTCTCTCCCTTCTTTCGGCCGCCGTCTCCCCCGCGCCCTCCTCGGGGCGGAGGGAAGCCGTGAAGGGGGAGGGAGGGCTCGGTGTCAATTTTTTTTTGTGTGGCTGCGGCCGTAGCCTGTGGCGGGCAAGCGGGGAGACCCCGGCGCAGCAGAACCATGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAGCGGCGGTCGCGGTCGCAGCGAGACCGGGAGAGGCGCTCCCGGGGCGGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCCGGACCCGGGCGCTCTCACTCGCCTCGTCGTCGGGCTCC)GACAAGGAAGACAATGGGAAGCCCCCGTCCTCCGCCCCGTCCCGGCCCAGACCCCCGCGGAGGAAGCGGAGAGAGTCCACCTCGGCAGAAGAGGACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAAGCGCTGGAG|GTTCCCATTCACTGCAGAAGTGTAACCCCAAAACAATGAAATCAATCAGCACGGAAGCACTATCTTCAGCGTTCTGAATGCTGCCACTTGTACTTCAAGGCTCCTTGAATAAATAAACACTGGAAAGCTCATGGCTTTTTTCCCTTTTGTTTTAGTAATGGAAAGCCTTTA MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEALE|vpihcrsvtpkq* 05BR029 ENSG00000196187.12 ENSG00000255835.1 -/- -/- chr1:225859196 chr1:225905356 CDS/splice-site intron duplication 0 9 0 149 33 medium out-of-frame . Calcium-dependent_channel__7TM_region__putative_phosphate(100%),Cytosolic_domain_of_10TM_putative_phosphate_transporter(100%),Late_exocytosis__associated_with_Golgi_transport_(100%)| . . ENSG00000196187.12 ENSG00000255835.1 ENST00000366835.8 . upstream downstream . ^(AGTTTCACTTTGTAACTTTTAAGTGGTCGGAACACGCCCCGCGCTGCTGGGTCCCGCCAGACACGCCGCCGCCGCAG___GAAAGTCTACAGTTTGGTACCCCAGGACTCGCTGGTCAGGAAAGCCCTGCAGGACATGAGTGTTAGGCCCGACGCCTGGCCCTTGGCAGCTTGGGAGGTGGCTGGGGCTGCTTTTGCCTTTGCCAGAGACAGCTCCAACTGAGGACCTCTCCAACGGGCCCATCCACAGTCCTTCCTTCCCCTAGTGTCTG___GGAAGACAGGCGCGATGATGGACTCCCCGTTCCTGGAGCTGTGGCAGTCCAAGGCAGTGTCCATCAGGGAGCAGCTGGGACTCGGGGACCGGCCCAACGACTCCTATTGCTACAACTCGGCCAAAAACAGCACCGTGCTCCAGGGGGTCACCTTTGGTGGCATCCCCACTGTCCTGCTCATAGACGTCAGCTGCTTCCTG___TTCTTAATCTTGGTGTTTTCTATTATAAGAAGAAGATTCTGGGACTATGGCCGCATTGCCCTGGTGTCAGAAGCAGACAG___CGAGTCCAGATTTCAGAGATTGTCATCGACTTCCTCCTCAGGTCAACAAGACTTTGAAAATGAGCTG___GGATGCTGTCCCTGGCTGACTGCCATCTTCCGTCTGCA___TGATGACCAGATCCTGGAATGGTGTGGGGAGGACGCCATCCACTACCTGTCCTTCCAGAGGCACATCATCTTCCTGTTGGTGGTGGTCAGCTTTTTGTCCCTGTGTGTCATCCTGCCTGTCAACCTCTCAGGGGACTTGCTGG___ACAAAGACCCGTATAGTTTTGGGAGGACAACAATAGCAAACCTACAGACTGA___CAATGACCTCCTTTGGCTGCACACCATCTTTGCTGTCATTTACCTCTTCCTCACTGTGGGTTTCATGCGGCACCACACTCAGTCCATTAAGTACAAAGAGGAGAACCTG___GTGAGGCGGACCCTGTTCATCACAGGACTCCCCAGAGATGCCAGGAAGGAGACTGTGGAGAGCCACTTCCG___GGACGCGTATCCCACGTGTGAGGTGGTTGATGTGCAGCTGTGCTACAACGTGGCCAAACTGATCTACCTGTGCAAGGAGAA___AAAGAAGACTGAGAAGAGCCTGACCTATTACACAAACCTGCAGGTGAAGACAGGCCAGCGGACCCTCATCAACCCCAAGCCCTGTGGCCAGTTTTGCTGCTGTGAAGTGCTGGGCTGTGAGTGG___GAAGACGCCATCTCTTACTACACACGGATGAAGGACAGGCTGCTGGAGAGGATCACAGAGGAAGAACGCCACGTCCAGGACCAGCCCCTGGGAATGGCCTTCGTCACCTTCCAGGAGAAGTCCATGGCCACCTA___CATCCTGAAAGATTTCAATGCCTGCAAGTGTCAGAGCCTTCAGTGCAAAGGTGAGCCCCAGCCGTCCTCCCATAGCAGGGAGCTCTATACCTCCAAGTGGACAGTCACCTTTGCTGCTGACCCTGAGGACATCTGCTG___GAAGAACCTCTCTATCCAGGGCCTCCGCTGGTGGCTACAGTGGCTGGGCATCAACTTCACCCTCTT)CCTGGGGCTATTTTTCCTGACCACACCCTCCATCATCCTGTCCACCATGGACAAGTTTAATGTCACCAAACCCATCCATGCGCTGAAT|GATCTCTGTTCCTCAGACCCAAGGTGCAGAATGTCTTGGTTATGAGTCGGTGACAAAGCCCTGCCAAATCCAGGTCTCCAGACTCCACCCCAGGGGTCTCCCTGGTCTGACACTGCAAGCTGTGCTCCTCCCCAACCTCCCAACATCTGGACTCGCTGGGAGCTCCCTGGAGCTGGAAGCATGGGCTGGTTTCAGCAAGGACCTGCTGTCACTGGGCTGAGGAG MMDSPFLELWQSKAVSIREQLGLGDRPNDSYCYNSAKNSTVLQGVTFGGIPTVLLIDVSCFLFLILVFSIIRRRFWDYGRIALVSEADSESRFQRLSSTSSSGQQDFENELGCCPWLTAIFRLHDDQILEWCGEDAIHYLSFQRHIIFLLVVVSFLSLCVILPVNLSGDLLDKDPYSFGRTTIANLQTDNDLLWLHTIFAVIYLFLTVGFMRHHTQSIKYKEENLVRRTLFITGLPRDARKETVESHFRDAYPTCEVVDVQLCYNVAKLIYLCKEKKKTEKSLTYYTNLQVKTGQRTLINPKPCGQFCCCEVLGCEWEDAISYYTRMKDRLLERITEEERHVQDQPLGMAFVTFQEKSMATYILKDFNACKCQSLQCKGEPQPSSHSRELYTSKWTVTFAADPEDICWKNLSIQGLRWWLQWLGINFTLFLGLFFLTTPSIILSTMDKFNVTKPIHALN|dlcssdprcrmswl* 05BR029 ENSG00000000971.16(2868),ENSG00000116785.14(24441) ENSG00000092853.14 ./+ -/- chr1:196750372 chr1:35734367 intergenic 3'UTR inversion 6 1 0 10 16 medium . . . . . . ENSG00000092853.14 . ENST00000318121.8 downstream downstream duplicates(1) CGATTACTGAAACATAATGAAATACAAAATTAATACAGAACAGTAATGAGTAAGAAAAATGAACAAGTAATAAAAAGTCTCTCATCAAAAAAACAAAACAAAACAAAAAAAACTCATGGCTTCATGATGGATGGAATCCTACCAAACATTTAAAGAATCAAC|GTTGACTTTGACAATACTTATGTTTGTATACTTGTAATCTTATAATGGGGAAAATGTGTATAAAGATGTTTTAATATGTATGTAGTTTTTCAATAAATCTTAATGCCTTGAAGGG(AAGATTTGCTGTCCAGCTTGAATGCTCATTCTTGGGTCAGTGCCTGTCTAACCTTGAGGAGCATTTCATTTTCAGGTTATCTCCATCCCAGGGAAACCCTCTGGGTCTAAACTGAGAAGCTGCTGCAATTGTCCCCTCACTGGCTTCTCAGTCCTAGTGAATTGATCAAGTTAACTTACCAAGTGGTTTGGGTTCAGCTCAGGTGAAGAGGATAATTGAGTTTACATAAATGGTACCTTCTATTATAGCTCTTTGTTTAAAAAACTTATTTTTTAGAGACAGTCTCATTCTGTTGCCCAGGTTAGAGTGCAGTGGCACAATCATAGCTCACTGTACCCTTGAACTCCTGGGCTTCAGCATCCTCCTTCCTCAACCTTTGGAATAGCTGGGCCACATTACAGGCATATGCCACCATGCCCAGCTAATTATTTTATTTTAGTAGAGACAGGGTCTTGCTGTGTTGCCCCAGCTGATCTTGAACTCCTGGCCTCAAGTAATCCTCCCACCTTGGCCTCCCAAAATGCTGGGGTCACAGGCTCAGCCACCATGCCCAGCCTGTTACAGCTTTGATTGGCCTTTCTCTTTAGCTAAGTTTGTATGTACTTCATTTTATCCATGGGTTCAAGATACATGTTTTTGCCTCTTTCTTTGAACTCTCTAAACAGTTCCCAAGGCAAAGTAGCCCTTGCTGGGCAAAAGAGAACTGAGCAGGAAGGCTAGATATTTCTTCCCTCTTGTTTCCCTACATGTCTTTTGAGGAGAGATAGAAAAGACAATTGGAATTGACAACTGAGGATAAGAAAATTCAGCCAGGTCCGGTGGCTCACGCCAGCACTTTAGGAGACTGAGGTGGGTGCATTGCTTGAACTCAGGAGTTCGAGACCAGCCTGGGAAACATGGTGAAATCCCAACTCTAAAAAAAAAAAAAAAAAGAAAAAAAAAAGAAAATTAGTGCCTGAGAAATCCAGGGAGAAAATGGTTTCTGGGCTGGGCGTGGTGGCTTATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGCTGGATCACCTAAGGTCAGGAGTTGGAGACCAGACTGACCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCTTGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAGCATGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAAAAGAAAGAAAGAAAATGGTTTCTGATTGAGGCTCCTGGGAGAAAGCACTCTTTGGAGAAAGAAAACTTGAGTCAAACTCTGGGTTACTTTTCCTTATGCCAGGATGGCTGCTATAAAGTAAGCTAAGCCTTGATCTTGGTAACAGGATTGACATGGACAGTTTCAATCTGACCCATATGCCCTTTGCCCAAAGCACTGAGCCAGCAGCATCAGTTATGTTTTAATGAAATTGAAGCCCCAGGACCTGCCACTATGGCTCTGAGGAGGACTCAGCTTCACTAGCTTGGAAATTACATATTTGGAGGGATGAGAGCCCATGAGTGTGGGAGATAGGGTAGGCTCAGTGTCAGTGTTTTTGTTTCTTCCTTGTTCCATACACTTGAGTAGGGATACATGGTATTAACCTCTTTAAACAGGTCTCTAATTTCATCTCATTAATTCACAGTTGCACAGCCATACTAGGGTCTCTTCCATAAACCATAAGATTTTATTCACCAAAGCTCTAGAGACAAGGTACTCAGATCTCTGTGGCATCCCTCATTTTCTCAACTGCTTCTCTACAAACTTCTCCTCACTTTGAGAGTTTCTAATGCTCAGGCTGGGAGACTTTTTAGGGGGTGTTTTTGGTTTTTATCTCCTAGGGTTATGTCTAATCACTCTTGTGGCATCCTGTCCTGGGATTTGTGCTCCTAAGGATAGAGGAGAGTATTTCTGGGAGGAGTGTTCCCATGATACTATTTGATTATGTCATCCTTGAGATGGTATTGTATCTTCTACCCTTATATCCTACTCATCGCCTGGCACACAGCTTGGAATGTAGTGGTGCCTACCACAGTTTGAATAAATAACACTACACCTTTCA)$ . 05BR029 ENSG00000196975.16 ENSG00000169599.13 +/+ -/+ chr2:69742175 chr2:69409594 5'UTR/splice-site intron duplication/5'-5' 0 6 0 132 13 medium . . . . . ENSG00000196975.16 ENSG00000169599.13 ENST00000409920.5 . downstream upstream . ^(GCGCGGCCGTCCCGGCCCGGGGCCCCAGGTGCGCTTCCCCTAGAGAGGGATTTTCCGGTCTCGTGGGCAGAGGAACAACCAGGAACTTGGGCTCAGTCTCCACCCCACAGTGGGGCGGATCCGTCCCGGATAAGACCCGCTGTCT)GGCCCTGAGTAGGGTGTGACCTCCGCAGCCGCAGAGGAGGAGCGCAGCCCGGCCTCG|AAAAGTTGAAGACTTGGCATCTGGTGAGGACCTCAAGCTGCTTACCCCCATGGAAGAAGAAGGGGAGCTGGCCCATGCAGAGATCACATG___GGCCTTACTGGGAAAATGAGGAAACGAGACAAGGTATTTTCTTCCCTTCTGTGTGACATTCTGATTCTGCGTTTAGAAGAGGAGGGAATGCACCCGGTAGAGGGCCTGGGGGC . 05BR029 ENSG00000285292.1 ENSG00000285292.1 -/- -/- chr7:151214058 chr7:151216029 CDS/splice-site CDS/splice-site duplication 2 4 0 83 112 medium out-of-frame . |ABC_transporter(100%) . . ENSG00000285292.1 ENSG00000033050.9 ENST00000222388.6 ENST00000287844.7 upstream downstream . ^(CCCA___GCTCCCTGAAACAACAGTAACCTACCCCTGTGGGTCATCATCATGCCCTCCGACCTGGCCAAGAAGAAGGCAGCCAAAAAGAAGGAGGCTGCCAAAGCTCGACAGCGGCCCAGAAAAGGACATGAAGAAAATGGAGATGTTGTCACAGAACCACAGGTGGCAGAGAAGAATGAGGCCAATGGCAGAGAGACCACAG___AAGTAGATTTGCTGACCAAGGAGCTAGAGGACTTTGAGATGAAGAAAGCTGCTGCTCGAGCTGTCACTGGCGTCCTGGCCTCTCACCCCAACAGTACTGATGTTCACATCATCAACCTCTCACTTACCTTTCATGGTCAAGAGCTGCTCAGTGACACCAAACTGGAATTAAACTCAGGCCGTCGTTATGGCCTCATTGGTTTAAATGGAATTG___GAAAGTCCATGCTGCTCTCTGCTATTGGGAAGCGTGAAGTGCCCATCCCTGAGCACATCGACATCTACCATCTGACTCGAGAGATGCCCCCTAGTGACAAGACACCCTTGCATTGTGTGATGGAAGTCGACACAGAGCGGGCCATGCTGGAGAAAGAGGCAGAGCGGCTGGCTCATGAGGATG___CGGAGTGTGAGAAGCTCATGGAGCTCTACGAGCGCCTGGAGGAGCTGGATGCCGACAAGGCAGAGATGAGGGCCTCGCGGATCTTGCATGGACTGGGTTTCACACCTGCCATGCAGCGCAAGAAGCTAAAAGACTTCAGTGGGGGCTGGAGGATGAGGGTTGCCCTTGCCAG___AGCCCTCTTTATTCGGCCCTTCATGCTGCTCCTGGATGAGCCTACCAACCACCTGGACCTAGATGCTTGCGTGTGGTTGGAAGAAGAACTAAAAAC___TTTTAAGCGCATCTTGGTCCTCGTCTCCCATTCCCAGGATTTTCTGAATGGTGTCTGTACCAATATCATTCACATGCACAACAAGAAACTGAAGTATTATACG___GGTAATTATGATCAGTACGTGAAGACGCGGCTAGAGCTGGAGGAGAACCAGATGAAGAGGTTTCACTGGGAGCAAGATCAGATTGCACACATGAAG___AACTACATTGCGAGGTTTGGTCATGGCAGTGCCAAGCTGGCCCGGCAGGCCCAGAGCAAGGAGAAGACGCTACAGAAAATGATGGCATCAGGACTGACAGAGAGGGTCGTGAGCGATAAG___ACACTGTCATTTTATTTCCCACCATGTGGCAAGATCCCTCCACCTGTCATTATGGTGCAAAATGTGAGCTTCAAGTATACAAAAGATGGG___CCTTGCATCTACAATAATCTAGAATTTGGAATTGACCTTGACACACGAGTGGCTCTGGTAGGGCCCAATGGAGCAGGGAAGTCAACTCTTCTGAAGCTGCTAACTGGAGAG___CTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAG___CATTTACAAGAGCAGCTGGACTTAGATCTCTCACCTTTGGAGTACATGATGAAGTGCTACCCAGAGATCAAGGAGAAGGAAGAAATGAGGAAGATCATTGGGCGATACGGTCTCACTGGGAAACAACAG___GTGAGCCCAATCCGGAACTTGTCAGACGGGCAGAAGTGCCGAGTGTGTCTGGCCTGGCTGGCCTGGCAGAACCCCCACATGCTCTTCCTGGATGAACCCACCAATCACCTGGATATCGAGACCATCGACGCCCTGGCAGATGCCATCAATGAGTTTGA)GGGTGGTATGATGCTGGTCAGCCATGACTTCAGcCTCATTCAGCAG___GTTGCACAGGAAATTTGGGTCTGTGAGAAGCAGcCAATCACCAAGTGGCCTGGAGACATCCTGGCTTACAAGGAGCACCTCAAGTCCAAGCTGGTGGATGAGGAGCCCCAGCTCACCAAGAGGACCCACAACGT|CTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAG___CATTTACAAGAGCAGCTGGACTTAGATCTCTCACCTTTGGAGTACATGATGAAGTGCTACCCAGAGATCAAGGAGAAGGAAGAAATGAGGAAGATCATTGGGCGATACGGTCTCACTGGGAAACAACAG___GTGAGCCCAATCCGGA(ACTTGTCAGACGGGCAGAAGTGCCGAGTGTGTCTGGCCTGGCTGGCCTGGCAGAACCCCCACATGCTCTTCCTGGATGAACCCACCAATCACCTGGATATCGAGACCATCGACGCCCTGGCAGATGCCATCAATGAGTTTGAGGGTGGTATGATGCTGGTCAGCCATGACTTCAGACTCATTCAGCAG___GTTGCACAGGAAATTTGGGTCTGTGAGAAGCAGACAATCACCAAGTGGCCTGGAGACATCCTGGCTTACAAGGAGCACCTCAAGTCCAAGCTGGTGGATGAGGAGCCCCAGCTCACCAAGAGGACCCACAACGTGTGAGCCCTCTACCTGGGTTCGGGTCAGGAGCTCCATCTGGGAACTAACAGCTGCTAACCTGACCAGCCGCTCAGGACAGGACCCTGGGGCTACACTCCTGCATTGCTGCAATACTGCTCCCCCAGCCTCTCCCCTGCCCCTCAACCTGCCTTAGCTGCACTCTCTTACCTACAGCTGGACAGTACCTGTCTGTTTCCTGTCCTCCTTCCAGTTACATCTGTCCATGTCTGGACTCGGCTGGCCGTTCCCTCCAGCCCCTTGCTGGTTATCTTACTCTGAGTGTGATGCAGTCAGAGGCACCTGCGGGTTAGCCCAGGGGCCCAAGCCCTGGATTTGGCCTGCGGAGGAGCTTAGGATCCTCGTTTTCTGGGTTTTGGTGATGTTGGAGGAGTACCCCCCAGCCCACCGCCCCGATTCCTTTTTGCTTCTGGTTTGGAGCTCCGGACCAGGACCTTCGTCCTGGTCAGTTTTTAAATAATTATTTAGCAGTGTAACTTTTAGACCTGCGTGACATCTACAAAGCGCCCAATAAAGAAAGAGGAAGCCACGGTCCCTACCTTCCTTCTCGGGTCTCTGGGGCCTTCTCCTCCCTGCAGTGCCAACATGCACTGCCCACAGCAGGAGCTGGATCCAGCGTCAGTGTGTCGATGGGAACTGAAGACTAGTCCATAGGAGCTGGAAGAACTTTGTCCCTTTACTTCTGATTTGAAATTGTACCTTTTCTCAGGCCTGTGATTCACAGACTTTAACATGAATCAGAATCACCTGGAGGGCTCATGCAATCAGATTGCCAGATCTCGCCTCAGCGTTTCTGGTTCAATAGGTTTTGGGGGAGACCAAGAACGTTAACATTTCTAGCAAGTTTCCAGGTGATGCTGTTGTTGCTGGTCTAGAGACTATTTTGAGAACCACTGTCCAGGAGCGTGGTTTTCTGATTGTGATCTGAGGTTCTGCCCCAACTGCACAGCAGTTGGGCTGCTTGTTAAAAATGCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCGCTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGCTCAGGAGTTCAAGACCAGCTTGGGAAACATGGCAAAACCCGTCTTTATGTGCCTGGAATCCCACCTGCTCAGGTGGCTAGGGTGGATGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCATTCCAGCCTGGATGACAGAGCAAAACCCTGTCTCAAAAAAATGCAGACTGGCCAGGCACAGTGGCTCACACCTGTAATCCGACTGTAAGCTCATCACCTTGGGAGGCCACTGTAGGAGGATCAATTGAGCCTAGAAGTTCAAGACCAGCCTGGGCAAAGTAGGGAGACCCCTTCTCTACAAATAGTAATAAAATGAACCGGGCATAGTAGCATGTGCCTGCGGTCCCAGCTGCTCTGATAAGAGGAGGCTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCAGAGCGTGCCGCTACACTCCAGCCTGATGACAGACCGAGACACTGTCTCAAAAAAATAAAAAAATTCAGATTGCTGAGCATCAGACCTATTGATTAATCGCATTTGGTAGAATGAGAGAGGTGCAGAGATGGCCAGGAGTTTGCATTTTCACACCAACGTCTGTGAACCTCTCTTCCTATTGGGATACAGGAAATTTTGTATTTTTACCTGTCCACAGCCATAGTTATCATCACTGTTGAATTCACTTCCAGCCCAGGGCTCTGCATACCTTATCTGGGTCTTTTGAACTTCAATAGCATTTCACCAGTGGCCATCCTTCCTGGTGTGGATTCATCACTCTGCCTCTGAAATCAGCCATCCCTATGGGAAGACACAGCCATGATTTTTCAGTACTCATAATACAGCCAGGACTGGCGGGAGCAACTGTCCCAGATGGTGCTTAAACCCCTTAGGAGCTCATGATCTTCTTGGAAAGCCAGTAAGACAGAACCATACAGGACACAAATTAGATGCTAAATTGTGATTTAGATAGGAGACAGAAGTATTCAAAAAGGAGGGAAATTTCTTGTGAGTAGCTGCCCAGAAAGGTGGAATTGGTGTGCTCTCACTTGAAAAATGAGTAGGATCTTCTCAGATGGCCACAAAGTCCAGGAGCTGCCCTGGGCAACAGGGACAGGAGCCTCCCGTGAGACACTGCAGCTGAGACAGATGGGAGTCCTCTGACCCCAGAGGGTACTGGCTTGACTGCTTTATGCCTTAAGTGGGGCCTGGAGCAAAATGGCCCAGGTTAGTCTGTCCTGAGAGTCCAGAGCCTTGGTTCAGGGGAGAATGGCATCTGGAGAGTGGGCTGCTGGGATAATGGGGACAGTGAGGGACAGAGCCCTTGATACTTAAGGAAGTGCTGGATATTGCTAAGAATTCAGGTAGTCTCGGGATCTCCAGAGTCTCCATACTAGGACAGGAGATCTTCAGAACCTGGAGGAATGGAAATAGTCTAGTCAGCTTATTTGTCAAGAAAAATGTCAACCTTGGTAATTTAAATAATGCTTTAAAAGTCCACAAAATACATATTTCTAAAATTA)$ MPSDLAKKKAAKKKEAAKARQRPRKGHEENGDVVTEPQVAEKNEANGRETTEVDLLTKELEDFEMKKAAARAVTGVLASHPNSTDVHIINLSLTFHGQELLSDTKLELNSGRRYGLIGLNGIGKSMLLSAIGKREVPIPEHIDIYHLTREMPPSDKTPLHCVMEVDTERAMLEKEAERLAHEDAECEKLMELYERLEELDADKAEMRASRILHGLGFTPAMQRKKLKDFSGGWRMRVALARALFIRPFMLLLDEPTNHLDLDACVWLEEELKTFKRILVLVSHSQDFLNGVCTNIIHMHNKKLKYYTGNYDQYVKTRLELEENQMKRFHWEQDQIAHMKNYIARFGHGSAKLARQAQSKEKTLQKMMASGLTERVVSDKTLSFYFPPCGKIPPPVIMVQNVSFKYTKDGPCIYNNLEFGIDLDTRVALVGPNGAGKSTLLKLLTGELLPTDGMIRKHSHVKIGRYHQHLQEQLDLDLSPLEYMMKCYPEIKEKEEMRKIIGRYGLTGKQQVSPIRNLSDGQKCRVCLAWLAWQNPHMLFLDEPTNHLDIETIDALADAINEFEGGMMLVSHDFsLIQQVAQEIWVCEKQpITKWPGDILAYKEHLKSKLVDEEPQLTKRTHNv|yypqma* 05BR029 ENSG00000152117.17 ENSG00000173272.16 +/+ -/- chr2:131493140 chr2:131484218 exon/splice-site CDS/splice-site inversion 2 3 0 24 606 medium . . . . . ENSG00000152117.17 ENSG00000173272.16 ENST00000438378.2 ENST00000309451.7 downstream downstream . ^(TGCTTACGCGCACGCGCATTCCTTGCTAGGGAGAAAGTGCGTGAGCCCTACCTTGGGGCGCCAGAGGCCGCCACAACGCAGGCGCATTCAGCTAAGGACCACTCCCTCCCCCCGCACTCCTGCCTCGCCATTTCCCCTCCCTGGCCGGCCGGCCGGCCTTCTTCGCTTTGCGCACGTACCTTTTGAGGTAACGGCCCAAAGAGGTAGAAGCGCTTTTCCCGCCCGGCCGCGGGGCGTGGCTCTGCGCGCA)GCTTGATGACGACGTTTTGGgGCGGTGGCGGAATGGCGGCTTCCACCTCTGAAGCGGGCGACGCTATGGGTCCCACAG|GGAGAGACAAAGGCAGCGCTGCCCTCGGGGGAGTATTGGCCCTGGCGGAACGCAGCAACCACGAGGGATCCAGCCAGAGGATGCCACGCCAGCCCAGCGCTACCAGGCTGCCCAAGGGGGGCGGGCCTGGGAAGAGCCCTACGCAGGGCAGCACCTAGGATGGG(GCAGAGACTTGTCACATCTTTGTCCCCAGCAAAGGCTACATGTTACCTCCTTCAGTTGATAATAAACCTTTCTGAGATGCAGAGGGTCCAGGTCA)$ . 05BR029 ENSG00000207304.1 ENSG00000143384.13(20201),ENSG00000253047.1(600) -/- ./- chr11:93732244 chr1:150599939 exon intergenic translocation 2 2 0 507 55 medium . . . . . ENSG00000207304.1 . ENST00000384574.1 . upstream downstream . ^(TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCATCGTTGGTTTTCTTGGCTTTGTGCTTGTTAAACCTGGTATTTCTA)CTGATACAGTATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCACCTACAGTAAAAAG|GACCCTAAAGTAAATTGGTTGAAGAAATTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCAtATTAAAAcGAGAtGACAG-AAGCCAAAGTAATTATGGGCTGACAGGACAACTGGATCAGTTTCATTAAAAAG . 05BR029 ENSG00000174574.16 ENSG00000127603.29 +/+ +/+ chr1:38991600 chr1:39432535 CDS/splice-site CDS/splice-site deletion 0 3 0 36 76 medium out-of-frame . |EF-hand_domain_pair(100%),Growth-Arrest-Specific_Protein_2_Domain(100%),Spectrin_repeat(100%) . . ENSG00000174574.16 ENSG00000127603.29 ENST00000432648.8 ENST00000567887.5 downstream upstream duplicates(1) ^(GCTGGAGGCGCCATTGGAGCCGGCTTGGCTGGCGAGCCCGGCTGAGGAGCCTCTTGGGCCGCACTTACCGCCGCGTCCGCTCCCGGTCCCTGGCCCCTCAGCGGCATGGCGTGCGGGGCGACGCTGAAGCGGCCCATGGAGTTCGAGGCGGCGCTGCTGAGCCCCGGCTCCCCGAAGCGGCGGCGCTGCGCCCCTCTGCCCGGCCCCACTCCGGGCCTCAGGCCCCCGGACGCCGAGCCGCCGCCG)CCGTTTCAGACGCAGACCCCACCGCAGAGTCTGCAGCAGCCCGCCCCGCCCGGCAGCGAGCGGCGCCTTCCAACTCCGG|TATGAGCAAGCTGCCGATGCAGAACTAGCTTGGGTTGCTGAAACAAAACGGAAACTGATGGCTCTGGGTCCAATTCGCCTGGAACAGGACCAGACCACAGCTCAGCTTCAGGTACAGAAG___GCTTTCTCCATTGACATTATTCGAC(ACAAAGATTCAATGGATGAACTCTTCAGTCACCGTAGTGAAATCTTTGGCACATGTGGGGAGGAGCAAAAAACTGTATTACAG___GAAAAGACAGAGTCTCTAATACAGCAATATGAAGCCATTAGCCTACTCAATTCAGAGCGTTATGCCCGCCTAGAGCGGGCCCAGGTCTTAGTAAACCAGTTTTGGGAAACTTATGAAGAGCTCAGCCCCTGGATTGAGGAAACTCGGGCACTAATAGCACAGTTACCCTCTCCAGCCATTGATCATGAGCAGCTCAGGCAGCAACAAGAGGAAATGAGG___CAATTAAGGGAATCTATTGCTGAACACAAACCTCATATTGACAAACTACTAAAGATAGGCCCACAACTAAAGGAATTAAACCCTGAGGAAGGGGAAATGGTGGAAGAAAAATACCAGAAAGCAGAAAACATGTATGCCCAAATAAAGGAGGAGGTGCGCCAGCGAGCCCTGGCTCTGGATGAAGCCGTGTCCCAGTCCACACAG___TTTCATGATAAAATTGAGCCTATGTTGGAGACACTGGAGAATCTTTCCTCTCGCCTGCGTATGCCACCACTGATCCCTGCTGAAGTAGACAAGATCAGAGAGTGCATCAGTGACAATAAGAGTGCCACCGTGGAGCTAGAAAAACTGCAGCCATCCTTTGAGGCCTTGAAGCGCCGTGGAGAGGAGCTTATTGGACGATCTCAGGGAGCAGACAAGGATCTGGCTGCAAAAG___AAATCCAGGATAAATTGGATCAAATGGTATTCTTCTGGGAGGACATCAAAGCTCGGGCTGAAGAACGAGAAATCAAATTTCTTGATGTCCTTGAATTAGCAGAGAAGTTCTGGTATGACATGGCAGCTCTCCTGACCACCATCAAAGACACCCAGGATATTGTCCATGACTTGGAAAGCCCAGGCATTGATCCTTCCATCATCAAACAACAGGTTGAAGCTGCTGAG___ACTATTAAGGAAGAGACAGATGGTCTGCATGAAGAGCTGGAGTTTATTCGGATCCTTGGAGCAGATTTGATTTTTGCCTGTGGAGAAACTGAGAAGCCTGAAGTGAGGAAGAGCATTGATGAG___ATGAATAATGCTTGGGAGAACTTAAACAAAACATGGAAAGAGAGGCTAGAAAAACTTGAGGATGCTATGCAAGCTGCTGTGCAGTATCAGGACACTCTTCAG___GCTATGTTTGACTGGCTAGATAACACTGTGATTAAACTCTGCACCATGCCCCCTGTTGGCACTGACCTCAATACTGTTAAAGATCAGTTAAATGAAATGAAG___GAGTTCAAAGTAGAAGTTTACCAACAGCAAATTGAGATGGAGAAGCTTAATCACCAGGGTGAACTGATGTTAAAGAAAGCTACTGATGAGACGGACAGAGACATTATACGAGAACCACTGACAGAACTCAAACACCTCTGGGAGAACCTGGGTGAGAAAATTGCCCACCGACAG___CACAAACTAGAAGGGGCTCTGTTGGCCCTTGGTCAGTTCCAGCATGCCTTAGAGGAACTAATGAGTTGGCTGACTCATACCGAAGAGTTGTTAGATGCTCAGAGACCAATAAGTGGAGACCCAAAAGTCATTGAAGTTGAGCTCGCAAAGCACCAT___GTCCTAAAAAATGATGTTTTGGCTCATCAAGCCACAGTGGAAACAGTCAACAAAGCTGGCAATGAGCTTCTTGAATCCAGTGCTGGAGATGATGCCAGCAGCTTAAGGAGCCGTTTGGAAGCCATGAACCAATGCTGGGAGTCAGTGTTACAGAAAACAGAGGAGAGGGAGCAGCAGCTTCAGTCAACTCTGCAGCAG___GCCCAGGGCTTCCACAGTGAAATTGAAGATTTCCTCTTGGAACTTACTAGAATGGAGAGCCAGCTTTCTGCATCTAAGCCCACAGGAGGACTTCCTGAAACTGCTAGGGAACAGCTTGATACACATATG___GAACTCTATTCCCAGCTGAAAGCCAAGGAAGAGACTTATAATCAACTACTTGACAAGGGCAGACTCATGCTTCTAAGCCGTGACGACTCTGGGTCTGGCTCCAAGACAGAACAGAGTGTAGCACTTTTGGAGCAGAAGTGGCATGTGGTCAGCAGTAAGATGGAAGAAAGAAAG___TCAAAGCTGGAAGAGGCCCTCAACTTGGCAACAGAATTCCAGAATTCCCTACAAGAATTTATCAACTGGCTCACTCTAGCAGAGCAGAGTTTAAACATCGCTTCTCCACCAAGCCTGATTCTAAATACTGTCCTTTCCCAGATAGAAGAGCACAAG___GTTTTTGCTAATGAAGTAAATGCTCATCGAGACCAGATCATTGAGCTGGATCAAACTGGGAATCAATTAAAGTTCCTTAGCCAAAAGCAGGATGTTGTTCTGATCAAGAATTTGTTGGTGAGCGTGCAGTCTCGATGGGAGAAGGTTGTCCAGCGATCTATTGAAAGAGGGCGATCACTAGATGATGCCAGGAAGCGGGCAAAACAA___TTCCATGAAGCTTGGAAAAAACTGATTGACTGGCTAGAAGATGCAGAGAGTCACCTGGACTCAGAACTAGAGATATCCAATGACCCAGACAAAATTAAACTTCAGCTTTCTAAGCATAAG___GAGTTTCAGAAGACTCTTGGTGGCAAGCAGCCTGTGTATGATACCACAATTAGAACTGGCAGAGCACTGAAAGAAAAGACTTTGCTTCCCGAAGATAGTCAGAAACTTGACAATTTCCTAGGAGAAGTCAGAGACAAATGGGATACTGTTTGTGGCAAGTCTGTGGAGCG___GCAGCACAAGTTGGAGGAAGCCCTGCTCTTTTCGGGTCAGTTCATGGATGCTTTGCAGGCATTGGTTGACTGGTTATACAAGGTGGAGCCACAGCTGGCTGAGGACCAGCCCGTGCACGGGGACCTTGACCTCGTCATGAACCTCATGGATGCACACAAG___GTTTTCCAGAAGGAACTGGGAAAGCGAACAGGAACCGTTCAGGTCCTGAAGCGGTCAGGCCGAGAGCTGATTGAGAATAGTCGAGATGACACCACTTGGGTAAAAGGACAGCTCCAGGAACTGAGCACTCGCTGGGACACTGTCTGTAAACTCTCTGTTTCCAAACAAAGCCGGCTTGAGCAGGCCTTAAAACAA___GCGGAAGTGTTTCGAGACACAGTCCACATGCTGTTGGAGTGGCTTTCTGAAGCAGAGCAAACGCTTCGCTTTCGGGGAGCACTTCCTGATGACACAGAGGCCCTGCAGTCTCTCATTGACACCCATAAG___GAATTCATGAAGAAAGTAGAAGAAAAGCGAGTGGACGTTAACTCAGCAGTAGCCATGGGAGAAGTCATCCTGGCTGTCTGCCACCCCGATTGCATCACAACCATCAAACACTGGATCACCATCATCCGAGCTCGCTTCGAGGAG___GTCCTGACATGGGCTAAGCAGCACCAGCAGCGTCTTGAAACGGCCTTGTCAGAACTGGTGGCTAATGCTGAGCTCCTGGAAGAACTTCTGGCATGGATCCAGTGGGCTGAGACCACCCTCATTCAGCGGGATCAGGAGCCAATCCCGCAGAACATTGACCGAGTTAAAGCCCTTATCGCTGAGCATCAG___ACATTTATGGAGGAGATGACTCGCAAACAGCCTGACGTGGACCGGGTCACCAAGACATACAAAAGGAAAAACATAGAGCCTACTCACGCGCCTTTCATAGAGAAATCCCGCAGCGGAGGCA___GGAAATCCCTAAGTCAGCCAACCCCTCCTCCCATGCCAATCCTTTCACAGTCTGAAGCAAAAAACCCACGGATCAACCAGCTTTCTGCCCGCTGGCAGCAGGTGTGGCTGTTAGCACTGGAGCGGCAAAGGAAACTGAATGATGCCTTGGATCGGCTGGAGGAG___TTGAAAGAATTTGCCAACTTTGACTTTGATGTCTGGAGGAAAAAGTATATGCGTTGGATGAATCACAAAAAGTCTCGAGTGATGGATTTCTTCCGGCGCATTGATAAGGACCAGGATGGGAAGATAACACGTCAGGAGTTTATCGATGGCATTTTAGCATCCA___AGTTCCCCACCACCAAGTTAGAGATGACTGCTGTGGCTGACATTTTCGACCGAGATGGGGATGGTTACATTGATTATTATGAATTTGTGGCTGCTCTTCATCCCAACAAGGATGCGTATCGACCAACAACCGATGCAGATAAAATCGAAGATGAG___GTTACAAGACAAGTGGCTCAGTGCAAATGTGCAAAAAGGTTTCAGGTGGAGCAGATCGGAGAGAATAAATACCGG___TTCTTCCTCGGCAATCAG___TTTGGGGATTCTCAGCAGTTGCGGCTGGTCCGTATTCTGCGCAGCACCGTGATGGTTCGCGTTGGTGGAGGATGGATGGCCTTGGATGAATTTTTAGTGAAAAATGATCCCTGCCGAG___TTCACCATCCTGGGAGTAAAATAAAGCGCTCTGATTCCAGCTCTTCGATTTCCAGTCAGTCTCCCATAG___CACGAGGTAGAACTAACATTGAACTTAGAGAGAAATTCATCCTACCAGAGGGAGCATCCCAGGGAATGACCCCCTTCCGCTCACGGGGTCGAAGGTCCAAACCATCTTCCCGGGCAGCTTCCCCTACTCGTTCCAGCTCCAGTGCTAGTCAGAGTAACCACAGCTGTACATCCATGCCATCTTCTCCAGCCACCCCAGCCAGTGGAACCAAG___ACTTCACTTCAGTTCTCTCGCTGTTATGACAAACCCTGGTTGGTAAACAGTAAAGCTGGCACCCCTATCAGGGACAGCCATTCTCCTGACCTCCAGCTGCCCACCCCCGAG___GTTATCCCATCATCAGGTAGCAAGTTGAAACGACCAACACCAACTTTTCATTCTAGTCGGACATCCCTTGCTGGTGATACCAGCAATAGTTCTTCCCCGGCCTCCACAGGTGCCAAAACTAATCGGGCAG___ACCCTAAAAAGTCTGCCAGTCGCCCTGGGAGTCGGGCTGGGAGTCGAGCCGGGAGTCGAGCCAGCAGCCGGCGAGGAAGTGACGCTTCTGACTTTGACCTCTTAGAGACGCAGTCTGCTTGTTCCGACACTTCAGAAAGCAGCGCTGCAGGGGGCCAAGGCAACTCCAGGAGAGGGCTAAACAAACCTTCCAAAATCCCAACCATGTCTAAGAAGACCACCACTGCCTCCCCCAGGACTCCAGGTCCCAAGCGATAACACTGTCTAAGCACCCCCAAGCCACTATCCACTTTGAATCCTGCTCCATACATTGGGTGTATATTTATTCTGAACGGGAGAAGTTATATTGTTAAAAGTGTAAAAGAATAATTGTGTTATGAAGCTGCCTTATTTTTTTTCTTTTTGTAAGTTACTATTTTCATGTGAATATTTATGTAGATAAAATTTGCCTCCTGGTAACCCTGTAATGGATGGGGCCCAGAAATGAAATATTTGAGAAAAACAAGTGAAAAGGTCAAGATACAAATGTGTATTAAAAAAAAAAAAGCCTATTAATAGGGTTTCTGCGCGGTGCAGGGTTGTAAACCTGCTTTATCTTTTAGGATTATTCCTAAATGCATCTTCTTTATAAACTTGACTTGCTATCTCAGCAAGATAAATTATATTAAAAAAATAAGAATCCTGCAGTGTTTAAGGAACTCTTTTTTTGTAAATCACGGACACCTCAATTAGCAAGAACTGAGGGGAGGGCTTTTTCCATTGTTTAATGTTTTGTGATTTTTAGCTAAAGAGAGGGAACCTCATCTAAGTAACATTTGCACATGATACAGCAAAAGGAGTTCATTGCAATACTGTCTTTGGATATTGTTTCAGTACTGGGTGTTTAAAGGACAAATAGCTGCTAGAATTCAGGGGTAAATGTAAGTGTTCAGAAAACGTCAGAACATTTGGGGTTTTAAACTGATTTGTTGCTCCCTATCCAGCCTAGACACCAGTAACTCTTGTGTTCACCAGGACCCAGACCCTTGGCAAGGGATAGGCTCGTTGGTGACATTGTGAATTTCAGATTTGTTTTATCCACTTTTTTTGCTATTTATTTAAATGGTCGATCAACTTCCCACAAACTGAGGAATGAATTCCACGAGCCTGTTCTGAAAATGTGGACGTAAGACAAACACGTGCTCGTCCTTTAATGGAGTTCACCAGCACACTTGTTAACCAGTCCTGTTTGCTTTCGTCTTTTTTTGTGCGTAATAAAGTCAACTGACCAAGTGACCATGAAAAGGGGCTGTCTGGGGCTCCTGTTTTTTAGCTGCTGTTCTTCAGCTCCGACCATGTTGCTGTGTGATTATCTCAATTGGTTTTAATTGAGGCAGAAACTGAAGCTCTACCAATGAACTGTTTAGAAACAAGACACACTTTTGTATTAAAATTGCTTGCAGTAACAAATATTTTGTATTTCCTGATTTTCTTTTCAACTATTACCTTATCTATAAATGTTACCCTGGGGTATAATCATGTTGTAGGTACTTAAATGCATTCCGCAAATCAAAATATCTTGATGGATAAATTATAGAGCTTAATAGATCTTGTTTTATTTCATCCTTGTTAATTTTGTTTAATATGGCTGGGCATGGTGGC)$ MACGATLKRPMEFEAALLSPGSPKRRRCAPLPGPTPGLRPPDAEPPPPFQTQTPPQSLQQPAPPGSERRLPTP|v* 05BR029 ENSG00000253715.1(6221),ENSG00000253728.5(15797) ENSG00000197965.12 ./- +/+ chr8:142818341 chr1:167789756 intergenic 3'UTR translocation 2 1 0 5 276 medium . . . . . . ENSG00000197965.12 . ENST00000359523.7 upstream upstream . GGAGTGGTACGAAGAGGGTGCTGAGAGCTGCGCAGTTTGGGAAGGAGAAGGAGAGGCGAGCAGAGGCCGGTGGGGTGGTCCCATCCTGCAGGTGAGGAAACTCGAGGTCCTGCCCAGCATTGGGGAGCAGTGGGCAGGCAGCAGAGGAGGCCTGGTGCAA|AAACGCCTGCCCTGCTGCCTTCCATGTTCATAGGCCCAGCCCAAGAGAGTGACACACAGTGCTGGCCCTGAGACATTTCCACAAAGTGGTCAACTCTGCCTTGCATCCTAAAACTTTTTGGGCATCTATTTTGAAAACTATAGGAGCCTTTGGAAGGCCTCTTATGTTTGGA(GGGGAAGGGTGTTGAGATTGTCACCATCCTTCAAGCTGAGACTCCTGGTGAGCCTTTGCCACCATGAAAACCACATAGCTGACCAGGGCTGTGCTTGAGGTACAGAGGACACACATTGTAGACAGGCCTGTGTCATGTTTCCTTACAGTCGTTTTTTACAGAGAAAAGGGGCATTGTTTTTTCACTGCTTTCTCAACAGTTCCTGTGAATAAATGAAACATTTCGGAGCTCCCTGAGAGCAAGAGCCTTCACTTCTTCTTGCGGTGCCGGGACCATGTGTTGGTGAAGCTGGTGCTGTGGGGGCCACTCACTCGAATGACACCTGGAGGCCTGTTCCTCCCTTACCACTCCCTTCCCCAGCCCGACTTCTTGGCCTCCTGCCCAACCAGACACCTCAAACTCTGTCAGTGCCCTGGCATTCTGGCAGAGAATCCTCACCAGTTCTCACCAACCTTCCCCCCAGGCAAGGGCAGCTGCCAGCATGGTGCTCTGCCAGGACAGGTTTCCCTGAAGGAAGCTGCTCACACTGAGATGAGCCTCTCAGGGCAGGACCTCTTCCCAAGCCCTGCACACCCACCCCTGCAGCCCTTTTGGCTCCCCTTTTCCCTGTGCCTCAGCACTCCTTTCCTGGTTGCAGATAACGAACTAAGGTTGCCTAAAGGGCAGATCTGCCCTCTCCATGTCTTCGTCCTGGCAAACAGGGTCGTCTTAAAATTATGCGCTAATTCTGTATGGGAGCACTCAAAAGGCATTACTTAGAGATTGAAATTTCAAACTATCTCTAGTTTTTCAATGGAAATATATCAGCTAGGGAAAAACCATCAAGCTCATTATTATTTTTTGATCTTCAGTTGTATTTTTGTGAATATTTTAATACATCTTTTTCAATTTCTGAATTGTGTTGTGTGCTCATTTTGACCAGAATAGAAAAAGAGATATGCCTTTCACTCATATCATTCCAGCTACACCTGCCTTCTTTTCTTCAAAAATGCCGTCCGTGTGCCTGCTTCTGGGCCTTTGCACATGCTGTTCCCTGGGCCTGAAGCATGCCTTCTGCCAATATTCCTGTGGTTTGCTCTCTGACTTCCTTTAAGCCTCTGCTCAAATGTTACCTCCTCAGGGAGACCTTCTGTGATATATAAAAGAGCAAGCCCCCCACCCCACCGCCTCAGCCTTCCTGGCCCCCTCAGTTCTGCTCTAGTTACTCTATTTCTCTCCCTCTTTCCCAGTACACACTTGTCTGTTCTCCCGCATTAGAACATAGTTAACAAGAGACCAGAACCTTGCTGTTTTGTTCACTGCTCCGTCTGCAGTAAAGGGAACAGCACCTGGCACTTAGCTGCTCAATACATGTTACGTGGATGGATGAGTAGGTGGAAGCATTCATCCATTCAGCAACCTACACTGAGAACAATCCTGTGCCAAGCACTGTGCTAAGCATAAGGAAACAAAACAAGACAAAGCTCCTCAAGGAGCTTGCCACAGGGTGGAGGTGACAGGTGACATGAATGGAAGTAACTAGTAGTTACCAAATACTTGGTGTGAGCCAGGCACTTTGCATTTCTTTCTCTATTATTTCTGTGAGTTAACAGTAATTGTACTAATCTTAATCCCATTGTTTGAAAGATTATATGGCTTACCCAGGGCCACTTAGCTAATAAAGGAACAGAGAAGAGGGGCTGGGCCTGGGGCCGCTGTTTGATCCACAGCCTTGTTCCTAACCACTATGCCCTGTGGCCTCTCACACCAAAAGGAAGTACCAAACTGCTTCCTTACTCAAATAAATGTGCTGAAATGCAGTTGCAGTTTTCTCCCAGTCCCTTAGGAGCTGGTTAGAGAGTCCCTTAGGAACTTGAGAGGGTAGTGTAGTCTAGGTGGTAGGCACAGATGTCTGAGAGCTTTAACCTCAGTCTGGAAGACAATGTGGTGACTTAATTTGTTGAGAACTATGTTACAAATAATGTGTTACTAATAAAACATTGAGGCTTCGCA)$ . 05BR029 ENSG00000272145.1 ENSG00000066136.20 -/- +/- chr1:40690783 chr1:40697755 exon intron duplication/5'-5' 2 1 0 13 1 medium . . . . . ENSG00000272145.1 ENSG00000066136.20 ENST00000606277.1 . upstream downstream . ^(ACACGGACCCCACGAGCGCGGCGGCGGCGACAGCAGCGGGCCAGGCAAGAGCACAACATGGCGGCGGGCAGGACGGACCGAGCTACAGCAGCGGCCGCGCGAGGAAGTGAGGTCTCTGGCGAAGGCGGGAAGCGCTGCCCCTCCCCCCGCCGCCGCTTCCCTATCACCCTCGCACAGAAACTCCCGCACACTCACACACCTCTGCTCAGGAGTCCAGGAAGAGCAGGAGCCGCCCCCGCGCTCCTACGGAGTCGGGCAATGCAGAGGCCCAGGCGCGGCGGAGGGGAGGGGGAAGTGTGCGTCACGGAGAACGGAGCGCGCGCGAAGCGGGGGCACAAGCAAGATGGCGGCCACGCCGTTTGCACCGTTTCCCCTTTTCCCTTCCCCCTCCCTTGGCGCCTGGACTCCCAGTATCGTGCGGTGCGCAGAAGCTGTGCTCCTTGAGGTCTCGCGAGAATTGGGAAGGGGCGACGACAGAGGGAGGCGGAATGAGATCTGAGAGTTTTAACCCCGCCCCCTTTCGGGAGCTCGAGATCTGAGTTTTGACCCCGCCCCCTTTCGGGGGATCCGGAGGCGCTGCCCAGTGACCTCCACCACCCTGCCTATCCTTGTGGATCTCCTTGGTGCGAGCTTGAATTTTAGGAAATAAGTAGGTGTGTGCGCGTGCCCTTGAGTTTTAGGAACTAAGTAGGGGCGTGTGTGTGTATTTGTGTTTTTAATTTGGGGAGAAAGAACTGGGGGATGAAGGTCGACATGGCGTTCCAGATTAAGCATGCCGTTCAAGTAGACAGCTACTGGCACCTTAAATTCATAAAAGAGCATTTAGCACCAAACTGTAAAGTGATGTCCTCTAGAATAAAGAACAGTACTTACCAAGAATAGTTAGCTTGTAACCTTACGTCGACATAGTTGTTCTTATTTGAATGCAGATTTTAAAGTTTTATCACGCAGTTGGAAACCACAGCTACTATGAGCATGGATTTTTTCATACTTATCTCTTTCATTTCCGTGACCACTTGGTCCAAAGGCATCAGGATTGTATCCATTTTACAAATGATAAAACTGAAGCTCAAAAAGGTTAAGTAACTTGATCTAAGTCCCCACAGCTAGTAAGT)GTCAAAACCCCATCCGAATAACTTCAAAACCTGTAGGTATAGTCATCAAATGTGTCTTGAATGGAATTACCTACAGTGAGAGTTAGTGCATTAGGTAACAAGCGCAGAGAGGAATGACTGCCTCTGCTGATGGTAACCTTGAATTTTACAAATGACACTGGAGCCTTTC|CACAATACTGTCTAACTGCTTACTTCAAAGAAAACGTTACTCAAGTGACTACAAATCACACAAACCAAACCAACG . 05BR038 ENSG00000136770.11 ENSG00000279631.1(1429),ENSG00000261671.1(1768) -/- ./- chr10:21904522 chr10:22256018 CDS/splice-site intergenic duplication 20 14 0 715 50 high out-of-frame . DnaJ_domain(100%)| . . ENSG00000136770.11 . ENST00000376980.8 . upstream downstream duplicates(2),mismatches(1) ^(ACTGTGCAGCCCAGGCGCCGGGCGCTGCCTCTACAGCTGTGTGTAGGCCTGGGGGCGAGGGTCTTCGGAACGTAGCGCTGGCTGCGGCCCCGCCCGCCTACCCACCCGCCCGTCCGGCAGCCGGCTCCCGCCGCCTCCGCGCTCTGTCTGGGGCCAGCCACCTGGCGGGCCGCTCCGGTGCGCCTGCCCGCGCTTTTCACTGACAGGCGCTGTTCCCCACAGCCAGCGCCGCCCGCCACGTCCCAGCTCTCGGCCAACGGAGCTGCGCGGCGGGTGACCTTTCCGAGCCCAGCGCGATGACGGCTCCTTGCTCCCAGCCGGCGCAGCTTCCTGGACGCCGCCAGCTCGGGCTGGTGCCGTTCCCGCCGCCGCCGCCGCGGACGCCGCTGCTGTGGCTGCTGCTGCTGCTGCTGGCCGCCGTGGCGCCGGCGCGCGGCTGGGAGAGCGGAGACCTGGAGTTGTTTGACTTAGTGGAGGAGGTGCAGCTCAACTTCTACCAGTTCCTCGGGGTGCAGCAG___GATGCATCATCTGCAGACATCAGAAAAGCATATCGTAAGCTTTCACTAACTTTACATCCAGACAAGAATAAAGATGAAAATGCAGAAACTCAGTTTAGACAA___TTGGTGGCCATTTATGAAGTTTTAAAGGATGATGAACGAAGGCAGAG___GTATGATGATATTCTGATCAATGGACTTCCAGATTGGCGACAGCCTGTATTCTACTACAGGCGGGTGAGAAAAATGAGCAATGCTGAGCTGGCATTACTCTTGTTCATTATTCTCACAGTGGGTCATTATGCTGTGGTTTGGTCAATCTACCTGGAAAAACAACTG___GATGAACTACTAAGTAGAAAAAAGAG)AGAAAAGAAAAAAAAGACTGGCAGCAAGAGTGTGGATGTATCAAAACTCGGTGCTTCAGAAAAAAATGAAAG___ATTGCTGATGAAACCACAGTGGCATGATTTGCTTCCATGCAAACTGGGGATTTGGTTTTGCCTTACACTAAAAGCATTACCTCACCTCATCCAG___GATGCTGGGCAGTTTTATGCTAAATATAAAGAAACAAGATTGAAGGAAAAGGAAGATGCACTGACTAGAACTGAACTTGAAACACTTCAAA|GTCTTTACAATTACCTAAGGAATTGCCTGAGGCATTGAACATATTGCCGGATATTTAGCTGCAAACAAACAAAAATGTTTTCAAACAAGGATGTAGATGAAAAAGCTATACAATGATTTTAATACCACCTCCACTCCATCACCTCTACACCACCAGCACTGTCACACATACTCTCAGAATGTTTGGTATCATATACAACTCTCCTAAAGCAAGAGAT...AACTTCCTGTATATATTAATATTTGTTTTCAACACACTAATTGCCTTGGACCTCTATGAATTTTATGTATTTAATAAATTAATGCAAGTGTTCATCTTAATTTTAGATTTACATTTGTTATCTTTGAACTATATCAATTTCTCATAAAAC MTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVEEVQLNFYQFLGVQQDASSADIRKAYRKLSLTLHPDKNKDENAETQFRQLVAIYEVLKDDERRQRYDDILINGLPDWRQPVFYYRRVRKMSNAELALLLFIILTVGHYAVVWSIYLEKQLDELLSRKKREKKKKTGSKSVDVSKLGASEKNERLLMKPQWHDLLPCKLGIWFCLTLKALPHLIQDAGQFYAKYKETRLKEKEDALTRTELETLQ|slynylrnclrh* 05BR038 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 21 1 91 37 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTC)TGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05BR038 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 12 1 29 34 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismatches(2) GTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGG(ACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05BR038 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 7 4 0 100 51 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCA)TGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05BR038 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 10 0 17 95 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2) GGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTG(AATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05BR038 ENSG00000185630.19 ENSG00000212538.2(320327),ENSG00000225719.2(98805) +/+ ./+ chr1:164792738 chr1:164244200 CDS/splice-site intergenic duplication 1 2 0 65 3 high out-of-frame . PBC_domain(100%)| . . ENSG00000185630.19 . ENST00000420696.7 . downstream upstream . ^(AAACAAAAGCAGGAGGCTGACGGGGCTGCTGGAGTTTGCAGAGACACGGAGGAGGAGAGAGCCTGTGCTTTGCCTGCCGCCGCGGCTGGGGGAGATCTGGCTTTTGCAACAGCCCACCCCCTTTGAGATCACTCTGGCCCGGAGTGGGGGTGGGGGGCAGCGGGGGGTGGGGGGGGAAAGTTTGCATTGCAATCCCCCTGCCTTCCTCTCCTTTCTCCCGATCAATGCATATTTGCAAAAGGATTAAGCCACAGATTTAAGCGCCGGGAGCCCATTTCTGCCTTGCAAAGGAGACCGGACTGAAAAACCTAAAGCCAGCTCTGATTTCTTTTCGCCAAGTGGGAAGGTGGTTTATTTTTCTTGCTTTTTGGAGTCAACACCCTTCCCCACCAGCCCTTATCCCCACCCTCACCCCGCAACCCCTTCACGCCCCCTCCCCCTCCCCCTCCTCATCCTCCCACCATCCTCTAAAGAGGCAAAGGGATTTTTTTTTTCTTTTGGTCTTCTTTTTTCCCCCTTCCCTGTTTATCCTGAAAAGGATTTGAAGACAAGCTTGAAGGATAAAAAGCCTTGGTGCTTCCCAGGAGCCGAGCCGAGGAGCAGAAGAGGAAGAGCCGGGGGCTGCCGTAGCCTTTGGAGATGGACGAGCAGCCCAGGCTGATGCATTCCCATGCTGGGGTCGGGATGGCCGGACACCCCGGCCTGTCCCAGCACTTGCAGGATGGGGCCGGAGGGACCGAGGGGGAGGGCGGGAGGAAGCAGGACATTGGAGACATTTTACAGCAAATTATGACCATCACAGACCAGAGTTTGGATGAGGCGCAGGCCAG___AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTGTTGTGTGAAATCAAAGAAAAAACAG___TTTTGAGTATCCGAGGAGCCCAGGAGGA)GGAACCCACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCTGAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGgTCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATCTACCATACGGAGCTGGAGAAATACGAGCAG|GAATAGTCATGTGAGGACCAGAGAGAAGGCAGCCATCTTCAAGCCAGGAAGAGAGACCTCATCAGAGCTCAACAATGGCAGTGCCTTGACTTTGGACTTCCAGCCTCCAGAACTGTGAGAAGATAAATTTCTCTTGTTTCAGCCACCCAGTCTATGGCATTTTACTGTGGTAGCCCAAGATGACTA MDEQPRLMHSHAGVGMAGHPGLSQHLQDGAGGTEGEGGRKQDIGDILQQIMTITDQSLDEAQARKHALNCHRMKPALFNVLCEIKEKTVLSIRGAQEEEPTDPQLMRLDNMLLAEGVAGPEKGGGSAAAAAAAAASGGAGSDNSVEHSDYRAKLSQIRQIYHTELEKYEQ|e* 05BR038 ENSG00000171940.13 ENSG00000241721.1(58829),ENSG00000236352.1(5774) -/- ./+ chr20:53568705 chr20:53934386 3'UTR intergenic inversion 1 5 0 34 25 medium stop-codon . . . . ENSG00000171940.13 . ENST00000371471.6 . upstream upstream . ^(ATTCAAACCCGGCCGGCCCGAGTGGTGTCAGCTCAGTCCCGGCCGCCGCCGCGCGAGGAAATGGCCGAGGAGCCGGAGCCGCAG___GGTTTGGAAATCCCTTGTCTCCAGGTTGCTGGGATTGACTTCTTGCTCAATTGAAACACTCATTCAATGGAGACAAAGAGAACTAATGCTTTGTGCTGATTCATATTTGAATCGAGGCATTGGGAACCCTGTATGCCTTGTTTGTGGAAAGAACCAGTGACACCATCACTGAGCTTCCTAAAAGTTCGAAGAAGTTAGAGGACTATACACTTTCTTTTGAACTTTTATAATAAATATTTGCTCTGGTTTTTGGAACCCAGGGCTGTTAGAGGGGTGAGTGACAAGTCTTACAAGTGGCCTTATTCCAACTCCAGAAATTGCCCAACGGAACTTTGAGATTATATGCAATCGAAAGTGACAGGAAACATGCCAACTCAATCCCTCTTAATGTACATGGATGGGCCAGAAGTGATTGGCAGCTCTCTTGGCAGTCCGATGGAGATGGAGGATGCCTTGTCAATGAAAGGGACCGCTGTTGTTCCATTCCGAGCTACACAAGAAAAAAATGTCATCCAAATCGAGGGGTATATGCCCTTGGATTGCATGTTCTGCAGCCAGACCTTCACACATTCAGAAGACCTTAATAAACATGTCTTAATGCAACACCGGCCTACCCTCTGTGAACCAGCAGTTCTTCGGGTTGAAGCAGAGTATCTCAGTCCGCTTGATAAAAGTCAAGTGCGAACAGAACCTCCCAAGGAAAAGAATTGCAAGGAAAATGAATTTAGCTGTGAGGTATGTGGGCAGACATTTAGAGTCGCTTTTGATGTTGAGATCCACATGAGAACACACAAAGATTCTTTCACTTACGGGTGTAACATGTGCGGAAGAAGATTCAAGGAGCCTTGGTTTCTTAAAAATCACATGCGGACACATAATGGCAAATCGGGGGCCAGAAGCAAACTGCAGCAAGGCTTGGAGAGTAGTCCAGCAACGATCAACGAGGTCGTCCAGGTGCACGCGGCCGAGAGCATCTCCTCTCCTTACAAAATCTGCATGGTTTGTGGCTTCCTATTTCCAAATAAAGAAAGTCTAATTGAGCACCGCAAGGTGCACACCAAAAAAACTGCTTTCGGTACCAGCAGCGCGCAGACAGACTCTCCACAAGGAGGAATGCCGTCCTCGAGGGAGGACTTCCTGCAGTTGTTCAACTTGAGACCAAAATCTCACCCTGAAACGGGGAAGAAGCCTGTCAGATGCATCCCTCAGCTCGATCCGTTCACCACCTTCCAGGCTTGGCAGCTGGCTACCAAAGGAAAAGTTGCCATTTGCCAAGAAGTGAAGGAATCGGGGCAAGAAGGGAGCACCGACAACGACGATTCGAGTTCCGAGAAGGAGCTTGGAGAAACAAATAAGGGCAGTTGTGCAGGCCTCTCGCAAGAGAAAGAGAAGTGCAAACACTCCCACGGCGAAGCGCCCTCCGTGGACGCGGATCCCAAGTTACCCAGTAGCAAGGAGAAGCCCACTCACTGCTCCGAGTGCGGCAAAGCTTTCAGAACCTACCACCAGCTGGTCTTGCACTCCAGGGTCCACAAGAAGGACCGGAGGGCCGGCGCGGAGTCGCCCACCATGTCTGTGGACGGGAGGCAGCCGGGGACGTGTTCTCCTGACCTCGCCGCCCCTCTGGATGAAAATGGAGCCGTGGATCGAGGGGAAGGTGGTTCTGAAGACGGATCTGAGGATGGGCTTCCCGAAGGAATCCATCTGG___ATAAAAATGATGATGGAGGAAAAATAAAACATCTTACATCTTCAAGAGAGTGTAGTTATTGTGGAAAGTTTTTCCGTTCAAATTATTACCTCAATATTCATCTCAGAACGCATACAG___GTGAAAAACCATACAAATGTGAATTTTGTGAATATGCTGCAGCCCAGAAGACATCTCTGAGGTATCACTTGGAGAGACATCACAAGGAAAAACAAACCGATGTTGCTGCTGAAGTCAAGAACGATGGTAAAAATCAGGACACTGAAGATGCACTATTAACCGCTGACAGTGCGCAAACCAAAAATTTGAAAAGATTTTTTGATGGTGCCAAAGATGTTACAGGCAGTCCACCTGCAAAGCAGCTTAAGGAGATGCCTTCTGTTTTTCAGAATGTTCTGGGCAGCGCTGTCCTCTCACCAGCACACAAAGATACTCAGGATTTCCATAAAAATGCAGCTGATGACAGTGCTGATAAAGTGAATAAAAACCCTACCCCTGCTTACCTGGACCTGTTAAAAAAGAGATCAGCAGTTGAAACTCAGGCAAATAACCTCATCTGTAGAACCAAGGCGGATGTTACTCCTCCTCCGGATGGCAGTACCACCCATAACCTTGAAGTTAGCCCCAAAGAGAAGCAAACGGAGACCGCAGCTGACTGCAGATACAGGCCAAGTGTGGATTGTCACGAAAAACCTTTAAATTTATCCGTGGGGGCTCTTCACAATTGCCCGGCAATTTCTTTGAGTAAAAGTTTGATTCCAAGTATCACCTGTCCATTTTGTACCTTCAAGACATTTTATCCAGAAGTTTTAATGATGCACCAGAGACTGGAGCATAAATACAATCCTGACGTTCATAAAAACTGTCGAAACAAGTCCTTGCTTAGAAGTCGACGTACCGGATGCCCGCCAGCGTTGCTGGGAAAAGATGTGCCTCCCCTCTCTAGTTTCTGTAAACCCAAGCCCAAGTCTGCTTTCCCGGCGCAGTCCAAATCCCTGCCATCTGCGAAGGGGAAGCAGAGCCCTCCTGGGCCAGGCAAGGCCCCTCTGACTTCAGGGATAGACTCTAGCACTTTAGCCCCAAGTAACCTGAAGTCCCACAGACCACAGCAGAATGTGGGGGTCCAAGGGGCCGCCACCAGGCAACAGCAATCTGAGATGTTTCCTAAAACCAGTGTTTCCCCTGCACCGGATAAGACAAAAAGACCCGAGACAAAATTGAAACCTCTTCCAGTAGCTCCTTCTCAGCCCACCCTCGGCAGCAGTAACATCAATGGTTCCATCGACTACCCCGCCAAGAACGACAGCCCGTGGGCACCTCCGGGAAGAGACTATTTCTGTAATCGGAGTGCCAGCAATACTGCAGCAGAATTTGGTGAGCCCCTTCCAAAAAGACTGAAGTCCAGCGTGGTTGCCCTTGACGTTGACCAGCCCGGGGCCAATTACAGAAGAGGCTATGACCTTCCCAAGTACCATATGGTCAGAGGCATCACATCACTGTTACCGCAGGACTGTGTGTATCCGTCGCAGGCGCTGCCTCCCAAACCAAGGTTCCTGAGCTCCAGCGAGGTCGATTCTCCAAATGTGCTGACTGTTCAGAAGCCCTATGGTGGCTCCGGGCCACTTTACACTTGTGTGCCTGCTGGTAGTCCAGCATCCAGCTCGACGTTAGAAG___GAAAAAGGCCTGTGTCATATCAACACTTATCTAACAGCATGGCACAAAAGAGAAACTATGAGAATTTTATTGGGAATGCACATTATCGACCAAATGACAAAAAAACTTGATTCACTAATTAGGGGGAAAAAAG___GTCTTGGTGGATGTCAGTGCTTACTCCCCATGAAATTAAATTTTACTTCATCCTTTGAGAAGCGAATGGTGAAAGCTACTGAAATAAGCTGTGATTGTACTGTACATAAAACATATGAGGAATCTGCAAGGAACACTACAGTTGTGTAAAGTTGTTCTGTTAACTTTTGTACCAAATAGCAATACAAACTAGTTGGAACAGTTGGAACTTACATACATGGGGACTGGAAATCTCTATTTTGTCCCTGAATAATATTTTTCTTAGAATTGACCAAATAAGAAGTGGAATTTTTGCATACTTGAGCGCTGCTGAAAAGAAATCATTTGGGTTGGGTGGGGCGGGATGGGGGAAA)AGTATATAATGCTTGCACCTCAGGTAAAAATCTGTAAATATCTAAGTTGTAAACCTGCTTGTTCAAATACTGTGTGTATTCCTTTTCTCTAATGCAGCTCATCACTTGGAGCAGTTTCTGCTATTGTGCTCTTTCATTTAAAATGTATGTTTTTTTTTTTTTAAACTGTCAATGATTTTGTATTATGTTGAATCCACCCAAATCTATT|CTTCTAGTAGACAGCCCCCAGTAGATTCCTTAACTTTTCAAATGGCATTGAAAAAGCGAGGAAGTTATTTCACCTCTTTGGGAGGCTGTCTCAGTCCTCTCTATCCATTGGAGGGCAGGGCAGCCACTCAATAAGTGTCTGTTGCATGAGTCAAGTAAAGGATCAGACCGGGGTGTCTCAGAGCCTTCCCTGCTC...TCTATTCTCTGTTAAGCCACTGAATGAAGAAGGCTGCCACATTTTCCTCTGGGTCAATATCAACAGCAAAACAATATCCCAGAACGGTCATTTCTGGGACAATAAATAGTTTTCCAGAGCTGCTATCTTAGGCCTCTCTGCCACTAAGGG . 05BR038 ENSG00000134243.12 ENSG00000134202.11 -/- -/- chr1:109316850 chr1:109739908 CDS/splice-site CDS/splice-site duplication 3 1 0 90 699 medium in-frame . BNR-Asp_box_repeat(100%),Sortilin__neurotensin_receptor_3_(100%),Sortilin__neurotensin_receptor_3__C-terminal(100%)|Glutathione_S-transferase__C-terminal_domain(100%),Glutathione_S-transferase__N-terminal_domain(100%) . . ENSG00000134243.12 ENSG00000134202.11 ENST00000256637.8 ENST00000361066.7 upstream downstream mismatches(1) ^(GTCGGCGTCGGCGGCATTCGGCGGCGATGGAGCGGCCCTGGGGAGCTGCGGACGGCCTCTCGCGCTGGCCCCATGGCCTCGGCCTCCTCCTCCTCCTGCAGCTGCTGCCGCCGTCGACCCTCAGCCAGGACCGGCTGGACGCGCCGCCGCCGCCCGCTGCGCCGCTGCCGCGCTGGTCTGGCCCCATCGGGGTGAGCTGGGGGCTGCGGGCGGCCGCAGCCGGGGGCGCGTTTCCCCGCGGCGGCCGTTGGCGTCGCAGCGCGCCGGGCGAGGACGAGGAGTGCGGCCGGGTCCGGGACTTCGTCGCCAAGCTGGCCAACAACACGCACCAG___CATGTGTTTGATGATCTCAGAGGCTCAGTATCCTTGTCCTGGGTTGGAGATAGCACTGGG___GTCATTCTAGTCTTGACTACCTTCCATGTACCACTGGTAATTATGACTTTTGGACAGTCCAAGCTATATCGAAG___TGAGGATTATGGGAAGAACTTTAAGGATATTACAGATCTCATCAATAACACCTTTATTCGGACTGAATTTGGCATGGCTATTGGTCCTGAGAACTCTGGAAAG___GTGGTGTTAACAGCAGAGGTGTCTGGAGGAAGTCGTGGAGGAAGAATCTTTAGATCATCAGATTTTGCGAAGAATTTTGTGCAAACAGATCTCCCTTTTCATCCTCTCACTCAGATGATGTATAGCCCTCAGAATTCTGATTATCTTTTAGCTCTCAGCACTGAA___AATGGCCTGTGGGTGTCCAAGAATTTTGGGGGAAAATGGGAAGAAATCCACAAAGCAGTATGTTTGGCCAAATG___GGGATCAGACAACACCATCTTCTTTACAACCTATGCAAATGGCTCCTGCA___AAGCTGACCTTGGGGCTCTGGAATTATGGAGAACTTCAGACTTGGGAAAAAGCTTCAAAACTATTGGTGTGAAAATCTACTCATTTGGTCTTGGGGGACGTTTCCTTTTTGCCTCTGTGATGGCTGATAAG___GATACAACAAGAAGGATCCACGTTTCAACAGATCAAGGGGACACATGGAGCATGGCCCAGCTCCCCTCCGTGGGACAGGAACAGTTCTATTCTATTCTGGCAGCAAATGATGACATGGTATTCATGCATGTAGATGAACCTGGAG___ACACTGGGTTTGGCACAATCTTTACCTCAGATGATCGAGGCATTGTCTATTCCAAGTCTTTGGACCGACATCTCTACACTACCACAGGCGGAGAGACGGACTTTACCAACGTGACCTCCCTCCGCGGCGTCTACATAACAAGCGTGCTCTCCGAAG___ATAATTCTATCCAGACCATGATCACTTTTGACCAAGGAGGAAGGTGGACGCACCTGAGGAAGCCTGAAAACAGTGAATGTGATGCTACAGCAAAAAACAAGAATGAG___TGCAGCCTTCATATTCATGCTTCCTACAGCATCTCCCAGAAACTGAATGTTCCAATGGCCCCACTCTCAGAGCCGAATGCCGTAGGCATTGTCATTGCTCATG___GTAGCGTGGGGGATGCCATCTCAGTGATGGTTCCAGATGTGTACATCTCAGATGATGGGGGTTACTCCTGGACAAAGATGCTGGAAGGACCCCACTATTACACCATCCTGGATTCTGGAGGCATCATTGTGGCCATTGAGCACAGCAGCCGTCCTATCAATGTGATTAA___GTTCTCCACAGACGAAGGTCAATGCTGGCAAACCTACACGTTCACCAGGGACCCCATCTATTTCACTGGCCTAGCTTCAGAACCTGGAGCTAGGTCCATGAATATCAGCATTTGGGGCTTCACAGAATCTTTCCTGACCAGCCAGTGGGTCTCCTACACCATTGATTTTAAAGATATCCTTGAAAGGAACT___GTGAAGAGAAGGACTATACCATATGGCTGGCACACTCCACAGACCCTGAAGATTATGAAGATGGCTGCATTTTGGGCTACAAAGAACAGTTTCTGCGGCTACGCAAGTCATCCGTGTGTCAGAATGGTCGAGACTATGTTGTGACCAAGCAGCCCTCCAT)CTGCCTCTGTTCCCTGGAGGACTTTCTCTG___TGATTTTGGCTACTACCGTCCAGAAAATGACTCCAAGTGTGTGGAACAGCCAGAACTGAAGGGCCACGcgCTGGAGTTTTGTCTGTACGGAAGAGAAGAACACCTAACAACAAATGG___GTACCGGAAAATTCCAGGGGACAAATGCCAGGGTGGGGTAAATCCAGTTCGAGAAGTAAAAGACTTGAAAAAGAAATGCACAAGCAACTTTTTGAGTCCGGAAAAACAG|CTGGCGCACGCCATCCGCCTGCTCCTGGAGTTCACGGATACCTCTTATGAGGAGAAACGGTACACGTGCGGGGAAG___CTCCTGACTAT(GATCGAAGCCAATGGCTGGATGTGAAATTCAAGCTAGACCTGGACTTTCCTAAT___CTGCCCTACCTCCTGGATGGGAAGAACAAGATCACCCAGAGCAATGCCATCTTGCGCTACATCGCTCGCAAGCACAACATGT___GTGGTGAGACTGAAGAAGAAAAGATTCGAGTGGACATCATAGAGAACCAAGTAATGGATTTCCGCACACAACTGATAAGGCTCTGTTACAGCTCTGACCAC___GAAAAACTGAAGCCTCAGTACTTGGAAGAGCTACCTGGACAACTGAAACAATTCTCCATGTTTCTGGGGAAATTCTCATGGTTTGCCGGGGAAAAG___CTCACCTTTGTGGATTTTCTCACCTATGATATCTTGGATCAGAACCGTATATTTGACCCCAAGTGCCTGGATGAGTTCCCAAACCTGAAGGCTTTCATGTGCCGTTTTGAG___GCTTTGGAGAAAATCGCTGCCTACTTACAGTCTGATCAGTTCTGCAAGATGCCCATCAACAACAAGATGGCCCAGTGGGGCAACAAGCCTGTATGCTGAGCAGGAGGCAGACTTGCAGAGCTTGTTTTGTTTCATCCTGTCCGTAAGGGGTCAGCGCTCTTGCTTTGCTCTTTTCAATGAATAGCACTTATGTTACTGGTGTCCAGCTGAGTTTCTCTTGGGTATAAAGGCTAAAAGGGAAAAAGGATATGTGGAGAATCATCAAGATATGAATTGAATCGCTGCGATACTGGCATTTCCCTACTCCCCAACTGAGTTCAAGGGCTGTAGGTTCATGCCCAAGCCCTGAGAGTGGGTACTAGAAAAAACGAGATTGCACAGTTGGAGAGAGCAGGTGTGTTAAATGGGACTGGAGTCCCTGTGAAGACTGGGTGAGGATAACACAAGTAAAACTGTGGTACTGATGGACTTAACCGGAGTTCGGAAACCGTCCTGTGTACACATGGGAGTTTAGTGTGATAAAGGCAGTATTTCAGACTGGTGGGCTAGCCAATAGAGTTGGGACAATTGCTTACTCATTAAAAATAATAGAGCCCCACTTGACACTATTCACTAAAATTAATCTGGAATTTAAGGCCCAACATTAAACACAAAGCTGTTGAAATATTGATGAAAATGTAAGAATTTTTGTGACCACGGGGTAGGAGAAGTTTCTTTAAAGACGTAAAAAGAAAAAAACCATAGGCTGCTCTGCCTGTGGAGTAGCCATTCTTTATTCTTTTACTTTTTAAAATAATAACAATCACAAAGGAAAGATTTGCCAATTGAATAGGATCAAATTCTACAACTTTTCCTAAGGCACCCACAAATAAATGACAAGTGAGACAAAAAGCACTAGTATAAAGATTATATAAAGACCTATAAATCATTAAGACAACTGAGTTTTTAAAAATGGACAAAATCCATGAACAATTTATAAAATAGAAATATAGCCAAAAATGTCTAAAAGATGTTTATGATGTAAGGAATTATCAATTACAACAGTGAGAAACCATATTTCCTTCTATCCGATGAGTAAAAAGTTTCTAAAGTGTTGGCAAGGCTTAGGAAAGTGATATGCATTTCCTGCTGGTCAAGTTGTAAATTAGTATAGCTACTTTGGAGGACAATTGTAAAATTTAAATCATATCCTATGACCCAGCAATTCCATGCTATAAAAACTCATCCATGGCCGGGCTTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGATGAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCTACAGGGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTCAAAGAGACATATACTAAGATGTTCACTGTGGCATTGTCTGTAATGACAAATAAGTGGAAACCGTGTAAATACCTGTCAATACTATGGAGTACCATGTGGCAACGGAAGAATGAGACTGAACTGTGTGAACTAACATGCAAAGATCCCCAAAACAGGCCAGGTGTGGTTGCTCACAGCTGTAATAACAACACCTTCAGAGGCTGAGGTGAGAGGATCAGTTGAGGCCAGGAGTTTAAGACCAGCCTGGGCAACATAGTGAGACCCCTGTCTCCCAAAAATTTTTTTTAATTAGCTGTGCGCAATTGCTCATGCATAGTCCCAGCTACCCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAATTTGAAGCTGCAGTGAGCTGTGTTCTTGCCACTGCACTCCAATCTGGGTGACTGAGCAAGACCCTGTCTCTTAAAAAAATAAAAAAGATCTCCAAGCATAGAGAAGAGTCTGGAGGGAAACACCAAACTCATAACAGTCTTACTGCAGGCAAGTGGGATAAAGGCCCAGACTCCATGGTGGAAGTTAAAGGGCATTTCCAAGTTAAGGCTAAGACTTGCTTTTCTAACTAAGAGAATGTGCTCATGCATTGCTTGTGTAGTAGAAACTAGTTTTTAGAAAAGAAAGCAAACTTAAGAAACACTGACTCCTGTGGAGATGACTTGGCACCACTCTCCTTTCACAGAGCAGAGTCTGAATAGTCTTCAGAGATAGGCCTGTGGGCCAGATTGCCATCCCCTATGGACCAGAAGCCAAGGATCTCTCTAGTGATGGTCAGAGGGCCCAAATGGCAGGGATACCCAGTGATGTCAGGAGGAATAGTACAGACAGAAGGTGCTAAGCAGACAATTCAACTGCCATGTTTTGCCACCCCCTGTGAGCAGGGATTAGGTGTTCAGGCCAGTATCTTGGGCATGGGGGAGCCTTTGGCCAGAAGAGGTATAAAGCTCAGAAGTTTTTCAGTCTGATAACTATTGATATAATTTCCATAGTGTGAGGGAGCGGTATGCTCTACCCTTGTGTATTTAAGGCAGGACAGAGAAATTGAGGATGCCCCTGGGGCTAGATCGATGATATGACCAGAAATCAAAAAGGGAATGCATTATTTATTGCTGTGTAACACTGTTAAGAGAGGAGGTAGTTAAGGGATGGATAGGCACATAGAGAGGGAAGGTCTCAGGAGAAGGGATAGAAAGGAACTATGTTCACAAGAACAACGGCAAGACAGTGCCTATACTGCCTCTACAGTTAATAGGAAAAACGGAAGAAGTTACCCTTAAGCTAGGATGTTGCTCAGAAGTGACCATCCCAACTTTGGTGCGGGCACAATAAATCAGCCTAAATGTCCCTAATTTAACCCAGCTCATTATAATGTCATTAAACATGACATTAGCATTGTGGTTTTAGCACCCCCATGGGTTTTGCTTAGGCACTCATGGGTAATAACCAAGATGGAGTCCCTTTGGCAAAACTTAGGCATGCACAGCTGTAGTACCCCAAGAAGAAAATGTTACTTCTCTCATCTGGGCAAAACCCACAGAAGACTTCCCAGCTTCTGCCACATAAAAGACACAGAACACAGACGCCTTACTGGCAACCTGCTTTCAAGACCCCTGTCTTTGCTGAGAGCTTTCCTTTTTCCCAATAAATTCTACTCTGCCCTACTCA)$ MERPWGAADGLSRWPHGLGLLLLLQLLPPSTLSQDRLDAPPPPAAPLPRWSGPIGVSWGLRAAAAGGAFPRGGRWRRSAPGEDEECGRVRDFVAKLANNTHQHVFDDLRGSVSLSWVGDSTGVILVLTTFHVPLVIMTFGQSKLYRSEDYGKNFKDITDLINNTFIRTEFGMAIGPENSGKVVLTAEVSGGSRGGRIFRSSDFAKNFVQTDLPFHPLTQMMYSPQNSDYLLALSTENGLWVSKNFGGKWEEIHKAVCLAKWGSDNTIFFTTYANGSCKADLGALELWRTSDLGKSFKTIGVKIYSFGLGGRFLFASVMADKDTTRRIHVSTDQGDTWSMAQLPSVGQEQFYSILAANDDMVFMHVDEPGDTGFGTIFTSDDRGIVYSKSLDRHLYTTTGGETDFTNVTSLRGVYITSVLSEDNSIQTMITFDQGGRWTHLRKPENSECDATAKNKNECSLHIHASYSISQKLNVPMAPLSEPNAVGIVIAHGSVGDAISVMVPDVYISDDGGYSWTKMLEGPHYYTILDSGGIIVAIEHSSRPINVIKFSTDEGQCWQTYTFTRDPIYFTGLASEPGARSMNISIWGFTESFLTSQWVSYTIDFKDILERNCEEKDYTIWLAHSTDPEDYEDGCILGYKEQFLRLRKSSVCQNGRDYVVTKQPSICLCSLEDFLCDFGYYRPENDSKCVEQPELKGHaLEFCLYGREEHLTTNGYRKIPGDKCQGGVNPVREVKDLKKKCTSNFLSPEKQ|LAHAIRLLLEFTDTSYEEKRYTCGEAPDYDRSQWLDVKFKLDLDFPNLPYLLDGKNKITQSNAILRYIARKHNMCGETEEEKIRVDIIENQVMDFRTQLIRLCYSSDHEKLKPQYLEELPGQLKQFSMFLGKFSWFAGEKLTFVDFLTYDILDQNRIFDPKCLDEFPNLKAFMCRFEALEKIAAYLQSDQFCKMPINNKMAQWGNKPVC* 05BR038 ENSG00000284770.2 ENSG00000284770.2 +/- +/- chr1:235445733 chr1:235449152 intron 3'UTR duplication 1 1 0 8 24 medium . . . . . ENSG00000284770.2 ENSG00000284770.2 . . upstream downstream . ACTTAGATTCTTACTATCTTTACCATTACAAATGCTGCAAGATACAATGCTTGGTCAGAGCATATGTGTATTTTTAACTTTTTATAGTAGTTCCCACATGACTTTAAAAAAGGGT|TTCTAGTAACCCTTTAAAATAGTAGTTTCAATAGAGAATTCCATTAAAACTAGTCTTATGACAGATATTAACTGTGTTCAGATTTTATTAGGCTAGCTAGTTTCTTTCTATTTAATATTTAAATCTTATCATGAAATGCAGTGATGAaCTGTAAAAATAAATATGAAATAAGATCAGAAAATCA . 05BR038 ENSG00000164168.8 ENSG00000249004.1(13791),ENSG00000151617.17(7805) +/+ ./+ chr4:147631505 chr4:147473112 CDS/splice-site intergenic duplication 0 2 0 44 4 medium out-of-frame . . . . ENSG00000164168.8 . ENST00000508208.5 . downstream upstream . ^(CTGAAAGTCTTGGTTTGGCCTTGGGTTCCGCTGTAGGGGAGGTCCCGTGCGAAAGAATGAGGAGATCCTGGGGCCTTACCTACTAGCGGAATCGACTGAAGAGACGCCTGCCAGTGCGGGAGGTAGGAAGCTCGATCCCCAAAGAAAAGAGCGAGTGGGCAGGCAGCTGCGAGACAGAACCGGAGTGTGCAGGGTCCCTAGAGGCCGGTTCCTGGTCTGTGCTGCTCTCCTGGAAGCCATGGTACAGGCAGAGCTCAGGGCGATCCCCAGGTGAGGGCAGCGGCTCTGCCTGGGATTCCACCGCAGTACAACCGGGTAGATGCGGGGTGGAGAAGAAAGGATGTTGCCTGCACTGCTCGCCAATAGCACCCTGAGAGGCTACATTTGCAGAAGCAGCAGCAGCAGAAGACACAGCGCCGGTCCAGGAGGCGGCTCGAGCTGTTCGTAAAGTCGCCCGACAGCTTTTTCTCCGTAGTATGCGAGTTGACAAAACAGCCAGAGAACAGGGCTCCCCATTACAATCTTTTCGAGATCTTTTCCCTTGCTAACCGGATCTGATTTGTGCGAAAACATGCCTTGCACTTGTACCTGGAGGAACTGGAGACAGTGGATTCGACCTTTAGTAGCGGTCATCTACCTGGTGTCAATAGTGGTTGCGGTTCCCCTATGCGTGTGGGAATTACAGAAACTGGAG___GTTGGAATACACACCAAGGCTTGGTTTATTGCTGGAATCTTTTTGCTGTTGACTATTCCTATATCACTGTGGGTGATATTGCAACACTTAGTGCATTATACACAACCTGAACTACAAAAACCAATAATAAG___GATTCTTTGGATGGTACCTATTTACAGTTTAGATAGT___TGGATAGCTTTGAAATATCCCGGAATTGCAATATATGTGGATACCTGCAGAGAATGCTATGAAGCTTATGTAATTTACAACTTTATGGGATTCCTTACCAATTATCTAACTAACCGGTATCCAAATCTGGTATTAATCCTTGAAGCCAAAGATCAACAGAAACATTTCCCTCCTTTATGTTGCTGTCCACCATGGGCTATGGGAGA___AGTATTGCTGTTTAGGTGCAAACTAGGTGTATTACAGTACACAGTTGTCAGACCTTTCACCACCATCGTTGCTTT___AATCTGTGAGCTGCTTGGTATATATGACGAAGGGAACTTTAGCTTTTCAAATGCTTGGACTTATTTGGTTATAATAAACAACATGTCACAGTTG___TTTGCCATGTATTGTCTCCTGCTCTTTTATAAAGTACTAAAAGAAGAACTGA)GCCCAATCCAACCTGTTGGCAAATTTCTTTGTGTAAAGCTGGTGGTTTTTGTTTCTTTTTG|GCTTTTTAAGAGACAATATCTTTATATACTACTGTATCGTTTGAAGTGACAATATATCTATGCACTACCTGTAAAATTTTTTTGGTGAGACAAGAATTCACTACTGCTACCACCACCATCACCCAAGAGGAAGCACAAAGAACATTATAAATGGCTTTTTGTTTTTCTTAGTGATGTTGTCTATCTGCAAGCTAGCCCACTAATATTTG MPCTCTWRNWRQWIRPLVAVIYLVSIVVAVPLCVWELQKLEVGIHTKAWFIAGIFLLLTIPISLWVILQHLVHYTQPELQKPIIRILWMVPIYSLDSWIALKYPGIAIYVDTCRECYEAYVIYNFMGFLTNYLTNRYPNLVLILEAKDQQKHFPPLCCCPPWAMGEVLLFRCKLGVLQYTVVRPFTTIVALICELLGIYDEGNFSFSNAWTYLVIINNMSQLFAMYCLLLFYKVLKEELSPIQPVGKFLCVKLVVFVSFw|lfkrqylyillyrlk* 05BR038 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 2 0 0 450 10 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTC)ATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCAC(CAGTGTCAAG___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 05BR042 ENSG00000082898.17 ENSG00000270335.1(64739),ENSG00000228541.1(47649) -/- ./- chr2:61522611 chr2:62415478 CDS/splice-site intergenic duplication 19 23 4 507 54 high out-of-frame . Importin-beta_N-terminal_domain(100%)| . . ENSG00000082898.17 . ENST00000401558.7 . upstream downstream duplicates(4) ^(AGGTTCCAAACGCTCCGCGGCGCCATGGGCTGAAAACTCAACCGAGATGGAATCTCCCAGTCTGAACCGGTTTCAACCGGTTCCGAGTTTGAGGCACTAGGAGGAGGGGGAGAAGCGGCTGCAGCGGCCGCGGCAGGAGCAGCGGGAGCTACAGCATCAGCAAGAGCAACAGTAGCTACAGCCCCGGCGGCGGTGCCTGTTCCAGTCTTTGCTGCTGCAGTCCGTGCAACCACCCAGAGGGGGAGGGGGGAACCACCAGTCGCTGAGGAACAAGAGAAGGGGGGAAAGTTTAGGCGAGCCTTGGGGGGGGGGGGGCCAGCGCCGGAGCCGCGTGAGAGAGGGAGCCGTGTTTTGGTAGGGGGGAGTCGGACTGCAACTGGCAGCAGAGCGTCTCCCCGGCCGTGTGGACTCTACACCCCCTACTCCTGCCGCTTCTGCTGCTGCCTGTGGCTGGAGGGTCCCCCTGGGGCTGAATCTTTGGGACTTGACCCCGTTCCCTCCCCCTTCCCTCACTCCCCAGCCGGGCGGGAGCATTTATTCCCCAGATTAATTCCCCTTTTGGGGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGGGGAAGCGTCCCTGAAATAGTAAATATTATTGAGCTCTTTTTGCCCTTTTCCTGTCCGTTTTTTTAATTTCCTTTTTTGAGGTGGGAA)AACTGAAACCCACCTTGATTCGTCCCCTCTCCCCCCTCCCCACCTTCCCTCGCCCTAATCCCCCAACGAGGAAGGAAGGAGCAGTTGGTTCAATCTCTGG___TAATCTATGCCAGCAATTATGACAATGTTcGCAGACCATGCAGCTCGTCAGCTGCTTGATTTCAGCCAAAAACTGGATATCAACTTATTAGATAATGTGGTGAATTGCTTATACCATGGAGAAGGAGCCCAG___CAAAGAATGGCTCAAGAAGTACTGACACATTTAAAGGAGCATCCTGATGCTTGGACAAGAGTCGACACAATTTTGGAATTTTCTCAGAATATGAATACGAAA___TACTATGGACTACAAATTTTGGAAAATGTGATAAAAACAAGGTGGAAGATTCTTCCAAGGAACCAGTGCGAAG|GTACATCCACTGGATTAGTTTCAAGGCAGCAATGACCTGCCTTCCTTACCTGCACACAGGCCCAGGTACAGGCTCAGCCAGAAGAGGAATCTCCCAGGAGGGCCTCTCCCCAGGCCCAGGCAGGGAAGCACTGCCATGGATAGCATCTGCCAGGACAAGCTGACCTGCACAAGAGACAGTCCACCGTGAAGAGCCGAGCATGAGTTGGCAGCTGCTGTCAGCTCAAATTGTCCAGTACGCAAACTTGGTCTTCAGAGGACTGACTTCCTCTTGGATAGAAGAACCCTCTGAAACCATGACTGTCAAGAACACACCCAAATAAAGCAGCTGCC MPAIMTMfADHAARQLLDFSQKLDINLLDNVVNCLYHGEGAQQRMAQEVLTHLKEHPDAWTRVDTILEFSQNMNTKYYGLQILENVIKTRWKILPRNQCE|gtstglvsrqq* 05BR042 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 21 12 1 42 46 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(4),mismatches(1) ACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCgTGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGAC(GACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05BR042 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 10 23 0 61 48 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(5) GCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCA(CCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05BR042 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 20 10 1 310 120 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(5),mismatches(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCA)GAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05BR042 ENSG00000188157.15 ENSG00000199849.1(4748),ENSG00000213070.3(631) +/+ ./+ chr1:1049058 chr1:164356136 CDS/splice-site intergenic deletion 15 12 1 226 64 high out-of-frame . Agrin_NtA_domain(100%),EGF-like_domain(100%),Kazal-type_serine_protease_inhibitor_domain(100%),Laminin_EGF_domain(100%),SEA_domain(100%)| . . ENSG00000188157.15 . ENST00000379370.7 . downstream upstream duplicates(8),low_entropy(1) ^(AGTCCCGTCCCCGGCGCGGCCCGCGCGCTCCTCCGCCGCCTCTCGCCTGCGCCATGGCCGGCCGGTCCCACCCGGGCCCGCTGCGGCCGCTGCTGCCGCTCCTTGTGGTGGCCGCGTGCGTCCTGCCCGGAGCCGGCGGGACATGCCCGGAGCGCGCGCTGGAGCGGCGCGAGGAGGAGGCGAACGTGGTGCTCACCGGGACGGTGGAGGAGATCCTCAACGTGGACCCGGTGCAGCACACGTACTCCTGCAAG___GTTCGGGTCTGGCGGTACTTGAAGGGCAAAGACCTGGTGGCCCGGGAGAGCCTGCTGGACGGCGGCAACAAGGTGGTGATCAGCGGCTTTGGAGACCCCCTCATCTGTGACAACCAGGTGTCCACTGGGGACACCAGGATCTTCTTTGTGAACCCTGCACCCCCATACCTGTGGCCAGCCCACAAGAACGAGCTGATGCTCAACTCCAGCCTCATGCGGATCACCCTGCGGAACCTGGAGGAGGTGGAGTTCTGTGTGGAAG___ATAAACCCGGGACCCACTTCACTCCAGTGCCTCCGACGCCTCCTGATG___CGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCG___GCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTG___ACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAG___ACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTG___ACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTG___ACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGACCCTGTG___AGACCTGTGGAGATGCCGTGTGTGCTTTTGGGGCTGTGTGCTCCGCAGGGCAGTGTGTGTGTCCCCGGTGTGAGCACCCCCCGCCCGGCCCCGTGTGTGGCAGCGACGGTGTCACCTACGGCAGTGCCTGCGAGCTACGGGAAGCCGCCTGCCTCCAGCAGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCGAGCAGG___CCGAGTGCGGTTCCGGAGGCTCTGGCTCTGGGGAGGACGGTGACTGTGAGCAGGAGCTGTGCCGGCAGCGCGGTGGCATCTGGGACGAGGACTCGGAGGACGGGCCGTGTGTCTGTGACTTCAGCTGCCAGAGTGTCCCAGGCAGCCCG___GTGTGCGGCTCAGATGGGGTCACCTACAGCACCGAGTGTGAGCTGAAGAAGGCCAGGTGTGAGTCACAGCGAGGGCTCTACGTAGCGGCCCAGGGAGCCTGCCGAG___GCCCCACCTTCGCCCCGCTGCCGCCTGTGGCCCCCTTACACTGTGCCCAGACGCCCTACGGCTGCTGCCAGGACAATATCACCGCAGCCCGGGGCGTGGGCCTGGCTGGCTGCCCCA___GTGCCTGCCAGTGCAACCCCCATGGCTCTTACGGCGGCACCTGTGACCCAGCCACAGGCCAGTGCTCCTGCCGCCCAGGTGTGGGGGGCCTCAGGTGTGACCGCTGTGAGCCTGGCTTCTGGAACTTTCGAGGCATCGTCACCGATGGCCGGAGTGGCTGTACAC___CCTGCAGCTGTGATCCCCAAGGCGCCGTGCGGGATGACTGTGAGCAGATGACGGGGCTGTGCTCGTGTAAGCCCGGGGTGGCTGGACCCAAGTGTGGGCAGTGTCCAGACGGCCGTGCCCTGGGCCCCGCGGGCTGTGAAGCTG___ACGCTTCTGCGCCTGCGACCTGTGCGGAGATGCGCTGTGAGTTCGGTGCGCGGTGCGTGGAGGAGTCTGGCTCAGCCCACTGTGTCTGCCCGATGCTCACCTGTCCAGAGGCCAACGCTACCAAG___GTCTGTGGGTCAGATGGAGTCACATACGGCAACGAGTGTCAGCTGAAGACCATCGCCTGCCGCCAGGGCCTGCAAATCTCTATCCAGAGCCTGGGCCCGTGCCAGG___AGGCTGTTGCTCCCAGCACTCACCCGACATCTGCCTCCGTGACTGTGACCACCCCAGGGCTCCTCCTGAGCCAGGCACTGCCGGCCCCCCCCGGCGCCCTCCCCCTGGCTCCCAGCAGTACCGCACACAGCCAGACCACCCCTCCGCCCTCATCACGACCTCGGACCACTGCCAGCGTCCCCAGGACCACCGTGTGGCCCGTGCTGACGGTGCCCCCCACGGCACCCTCCCCTGCACCCAGCCTGGTGGCGTCCGCCTTTGGTGAATCTGGCAGCACTGATGGAAGCAGCGATGAGGAACTGAGCGGGGACCAGGAGGCCAGTGGGGGTGGCTCTGGGG___GGCTCGAGCCCTTGGAGGGCAGCAGCGTGGCCACCCCTGGGCCACCTGTCGAGAGGGCTTCCTGCTACAACTCCGCGTTGGGCTGCTGCTCTGATGGGAAGACGCCCTCGCTGGACGCAGAGGGCTCCAACTGCCCCG___CCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACC___CTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCA___CCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTG___ACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGG___)TGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCA|TGGATGAACCTGGAGGATATTATGCTAAACAAAATAATCCAGGCACAAAGACAAATACTACGTGATCATACTTCTGTATGGAATCTAAAAATGTCAAATCACAGAAGCAAAGAATAATATGGTGGTTGCCAGGGACTTGGAGTAGGGAAAATGGGGAGATATTGATCAAAAG MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQL|mdepggyyakqnnpgtktntt* 05BR042 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 7 18 0 29 94 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream mismappers(1) CGAGCCCGACGGCGGCTGCAGGGCGCTCCGGCAGCCCGAGCCGGCGCAGCGCAGCCCGCACCCTCCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACCTTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAG(CGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 05BR042 ENSG00000249859.11 ENSG00000249859.11 +/+ +/- chr8:127794734 chr8:127914597 exon/splice-site intron inversion/3'-3' 9 14 0 215 49 high . . . . . ENSG00000249859.11 ENSG00000249859.11 ENST00000651587.1 . downstream downstream duplicates(9) ^(AGAG)CGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA|TTGAATACTGTTTGCTATTCTTCCGCGGACAGACATTGGACATCTGGGTTGTTCCCACCTTCTGGCTGTTGTGAGTAGTGCACATGCCTGTAAAAGCTTTTTGTGGACATACGCCTTCAACTCTCTTGGATATACACCTAGGAGTGGAATTGC...___GTATTTCCACTAGCTGAGGCCCTGCCGAAGACATTTGGAAGAAAAACGAAAAACAGGCTGCGTCTATTCCCTACCCAACACCAACAGACCAC . 05BR042 ENSG00000134250.20 ENSG00000228502.1(23652),ENSG00000241992.3(111239) -/- ./- chr1:120069334 chr1:96471970 CDS/splice-site intergenic deletion 4 13 0 46 28 high out-of-frame . . . . ENSG00000134250.20 . ENST00000256646.7 . upstream downstream duplicates(4) ^(AGGCTGCTTCGTTGCACACCCGAGAAAGTTTCAGCCAAACTTCGGGCGGCGGCTGAGGCGGCGGCCGAGGAGCGGCGGACTCGGGGCGCGGGGAGTCGAGGCATTTGCGCCTGGG)CTTCGGAGCGTAGCGCCAGGGCCTGAGCCTTTGAAGCAGGAGGAGGGGAGGAGAGAGTGGGGCTCCTCTATCGGGACCCCCTCCCCATGTGGATCTGCCCAGGCGGCGGCGGCGGCGGCGGAGGAGGAGGCGACCGAGAAGATGCCCGCCCTGCGCCCCGCTCTGCTGTGGGCGCTGCTGGCGCTCTGGCTGTGCTGCGCGGCCCCCGCGCATG|AGTGATTTGAGGAACTGTCATGTGCCAAGGAATGCAGATGGCCTCCAGAAGCTAGCAAAGGCAAGGAAACAGGTTCTCTCTGAGTGTCTCCTGAAGAAACCAGCCCTGCAGACACCTTGATGTTATACAGTGAAACTGATGGAGGACTTCTGACTTCCAGAATAGTAAGAGAG MPALRPALLWALLALWLCCAAPAH|e* 05BR042 ENSG00000055483.19 ENSG00000287539.1 -/- +/+ chr17:78838587 chr17:78845860 5'UTR/splice-site exon/splice-site inversion 10 4 3 177 88 high . . . . . ENSG00000055483.19 ENSG00000287539.1 ENST00000312010.10 ENST00000667381.1 upstream upstream duplicates(1) ^(AGCGCAGCGCGAACGCTGGGTGCGGCGCCTTTAAGCGTCGCGGTGACACGTGTGTGAGGCGCCGGAGGCCCGGATGGTGCGCGTGCTGGGCCGCGGGCCGAA)GGAGTCGCCAGGGCTGCGTAGGCTTGTGGCGCGCCCGCGGAGAGGCCGGG___GCTCTGACGCCCGCTCTGCGGCTTCGGTGTTTGAACAGGCCACAGTCCAGGAGCGCTTACATTCAGGAGCTCCGCGTAGCACCTGCCCAACCAAACTCAGCCCTCCGTTAAGATCCTGGTTCCATGCCGCAGTAGGACAGCAGGCCCAAGTCTGCACATCCCAG|GTCTTTTATTGAATCATCTAAATATCACAGATACTTAGGTCTGAGGAGTCATCCAACATCGTGTTTCTGTAGCTGGACAACTCTTAGAACCTCCTCAGCAGCCTGCGGAACTGTTCCTTTTTAGGAGACGTAGACAGCACCCCAACATTTTCTGATATCCTTGTTTTTAACTATTGCTGCTTGCTGAATCAGAGCAGCTGAATTTGAACAAGACTGAAACAAGC(TCAATGTCGCTTCCTTCAAAGATTAATTCGACATTCTGGGCTTGAGATACTGAATAAGCAACACCTGGCCTCATCCGAACCCTGCAGATGGATTTTCCACCCAAGATGTTTCAGATTTCAACGAGAGTCCCGTTCTCCTGGATAACGACGTTTCTGGGGAAGTGAGCACCCACAGAGGTCATCTTGTAATGGAACCCAGGGCAACCCCTTTGACCATGCTCCGTACACGACTATGAACAGTCCCAACGGCAGCCGGCTCCCTTCAGTTTCCCCACCGTTTGTCAACCCGGAGCCTCTTTTCCTTTCCAAGGAGACTGAGTTCTACATTGATGTGATTGAAGTCTCTCCTCAAGGCTGTGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCAGAGGCAGGCGGATCACTTGAGGCCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACCATGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCTCAGCTACTAGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTC)$ . 05BR042 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 4 13 0 44 61 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(4) CCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC---???AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAG(GGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05BR042 ENSG00000188157.15 ENSG00000213070.3 +/+ +/+ chr1:1048365 chr1:164356830 CDS/splice-site exon deletion 5 9 0 227 152 high out-of-frame . Agrin_NtA_domain(100%),EGF-like_domain(100%),Kazal-type_serine_protease_inhibitor_domain(100%),Laminin_EGF_domain(100%),SEA_domain(100%)| . . ENSG00000188157.15 ENSG00000213070.3 ENST00000379370.7 ENST00000444896.1 downstream upstream duplicates(2) ^(AGTCCCGTCCCCGGCGCGGCCCGCGCGCTCCTCCGCCGCCTCTCGCCTGCGCCATGGCCGGCCGGTCCCACCCGGGCCCGCTGCGGCCGCTGCTGCCGCTCCTTGTGGTGGCCGCGTGCGTCCTGCCCGGAGCCGGCGGGACATGCCCGGAGCGCGCGCTGGAGCGGCGCGAGGAGGAGGCGAACGTGGTGCTCACCGGGACGGTGGAGGAGATCCTCAACGTGGACCCGGTGCAGCACACGTACTCCTGCAAG___GTTCGGGTCTGGCGGTACTTGAAGGGCAAAGACCTGGTGGCCCGGGAGAGCCTGCTGGACGGCGGCAACAAGGTGGTGATCAGCGGCTTTGGAGACCCCCTCATCTGTGACAACCAGGTGTCCACTGGGGACACCAGGATCTTCTTTGTGAACCCTGCACCCCCATACCTGTGGCCAGCCCACAAGAACGAGCTGATGCTCAACTCCAGCCTCATGCGGATCACCCTGCGGAACCTGGAGGAGGTGGAGTTCTGTGTGGAAG___ATAAACCCGGGACCCACTTCACTCCAGTGCCTCCGACGCCTCCTGATG___CGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCG___GCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTG___ACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAG___ACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTG___ACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTG___ACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGACCCTGTG___AGACCTGTGGAGATGCCGTGTGTGCTTTTGGGGCTGTGTGCTCCGCAGGGCAGTGTGTGTGTCCCCGGTGTGAGCACCCCCCGCCCGGCCCCGTGTGTGGCAGCGACGGTGTCACCTACGGCAGTGCCTGCGAGCTACGGGAAGCCGCCTGCCTCCAGCAGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCGAGCAGG___CCGAGTGCGGTTCCGGAGGCTCTGGCTCTGGGGAGGACGGTGACTGTGAGCAGGAGCTGTGCCGGCAGCGCGGTGGCATCTGGGACGAGGACTCGGAGGACGGGCCGTGTGTCTGTGACTTCAGCTGCCAGAGTGTCCCAGGCAGCCCG___GTGTGCGGCTCAGATGGGGTCACCTACAGCACCGAGTGTGAGCTGAAGAAGGCCAGGTGTGAGTCACAGCGAGGGCTCTACGTAGCGGCCCAGGGAGCCTGCCGAG___GCCCCACCTTCGCCCCGCTGCCGCCTGTGGCCCCCTTACACTGTGCCCAGACGCCCTACGGCTGCTGCCAGGACAATATCACCGCAGCCCGGGGCGTGGGCCTGGCTGGCTGCCCCA___GTGCCTGCCAGTGCAACCCCCATGGCTCTTACGGCGGCACCTGTGACCCAGCCACAGGCCAGTGCTCCTGCCGCCCAGGTGTGGGGGGCCTCAGGTGTGACCGCTGTGAGCCTGGCTTCTGGAACTTTCGAGGCATCGTCACCGATGGCCGGAGTGGCTGTACAC___CCTGCAGCTGTGATCCCCAAGGCGCCGTGCGGGATGACTGTGAGCAGATGACGGGGCTGTGCTCGTGTAAGCCCGGGGTGGCTGGACCCAAGTGTGGGCAGTGTCCAGACGGCCGTGCCCTGGGCCCCGCGGGCTGTGAAGCTG___ACGCTTCTGCGCCTGCGACCTGTGCGGAGATGCGCTGTGAGTTCGGTGCGCGGTGCGTGGAGGAGTCTGGCTCAGCCCACTGTGTCTGCCCGATGCTCACCTGTCCAGAGGCCAACGCTACCAAG___GTCTGTGGGTCAGATGGAGTCACATACGGCAACGAGTGTCAGCTGAAGACCATCGCCTGCCGCCAGGGCCTGCAAATCTCTATCCAGAGCCTGGGCCCGTGCCAGG___AGGCTGTTGCTCCCAGCACTCACCCGACATCTGCCTCCGTGACTGTGACCACCCCAGGGCTCCTCCTGAGCCAGGCACTGCCGGCCCCCCCCGGCGCCCTCCCCCTGGCTCCCAGCAGTACCGCACACAGCCAGACCACCCCTCCGCCCTCATCACGACCTCGGACCACTGCCAGCGTCCCCAGGACCACCGTGTGGCCCGTGCTGACGGTGCCCCCCACGGCACCCTCCCCTGCACCCAGCCTGGTGGCGTCCGCCTTTGGTGAATCTGGCAGCACTGATGGAAGCAGCGATGAGGAACTGAGCGGGGACCAGGAGGCCAGTGGGGGTGGCTCTGGGG___GGCTCGAGCCCTTGGAGGGCAGCAGCGTGGCCACCCCTGGGCCACCTGTCGAGAGGGCTTCCTGCTACAACTCCGCGTTGGGCTGCTGCTCTGATGGGAAGACGCCCTCGCTGGACGCAGAGGGCTCCAACTGCCCCG___CCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACC___CTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCA___CCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTG___ACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCA)GCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGG|ACAAGTAGAGAAGAACATAAGAAGAAAAACCCAGAGGTCCCTGTCAATTTTGTGGAATTTTCCAAGAAGTGCTCTGAGAGGTGGAAGACATGTCCGGGAAACAGAAATCTAAATTTGATGAAATGGCAAAGGCAGATAAAGTGCGCTATGATCGGGAAATGAAGGATTATGGACCAGCTAAGGGAGGCAAGAAGAAGAAGGATCCCAATGCTCCCAAAAGGCCACCGTCTGGATTCTTCCTGTTCTGTTCAGAATTCCACCCCAAAATCAAATCCACAAACCCCGG(CATCTCTATTGGAGACGTGGCAAAAAACCTGAGTGAGATGTGGAATAATTTAAATGACAGTGAAAAGCAGCCTTACATCACTAAGGCTGCAAAGCTGAAGGAGAAGTATGAGAAGGATGTTGCTGACTATAAGTCGAAAGGAAAGTTTGATGGTGCAAAGGTCCTGCTAAAGTTGCCCGGAAAAAGGTGGAAGAGGAAGAGGAAGAGAAGGAGGAAGAAGAGGAGGAGGAGGAGGATGAGGAGAAGGAG)$ MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEK|dk* 05BR042 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 6 7 0 25 200 high . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream duplicates(4) ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAG)GGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGC(ATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 05BR042 ENSG00000008441.16 ENSG00000161860.8 +/+ -/+ chr19:13025552 chr19:12913995 CDS/splice-site intron duplication/5'-5' 4 8 1 492 15 high out-of-frame . MH1_domain(100%),Nuclear_factor_I_protein_pre-N-terminus(100%)| . . ENSG00000008441.16 ENSG00000161860.8 ENST00000397661.6 . downstream upstream duplicates(2) ^(GCGAGCGCGGCGGCGGCGGCGGCAGCGGCGGCCCCGGAGCCGGCGGGGCCGAGCTTGCGAGCGGCGAGCGCGGAGCGGCGCCGGGCCGAGCGCGGGGCCGCGGGCCGGGCGGGCGCAGCGCGGCGGAGGCCGGAGGAGCCGAGCCGGAGCCCGAGCCCGAGCGCGGCCGCCGCCTGCCGGGCCTCCCCTCGCCGCGGCCGGCCGCCGCGCTCCCGCCCGGGCGCCCAGCTATGTACTCCCCGTACTGCCTCACCCAG___GATGAGTTCCACCCGTTCATCGAGGCACTGCTGCCTCACGTCCGCGCTTTCTCCTACACCTGGTTCAACCTGCAGGCGCGGAAGCGCAAGTACTTCAAGAAGCATGAAAAGCGGATGTCGAAGGACGAGGAGCGGGCGGTGAAGGACGAGCTGCTGGGCGAGAAGCCCGAGATCAAGCAGAAGTGGGCATCCCGGCTGCTGGCCAAGCTGCGCAAGGACATCCGGCCCGAGTTCCGCGAGGACTTCGTGCTGACCATCACGGGCAAGAAGCCCCCCTGCTGCGTGCTCTCCAACCCCGACCAGAAGGGCAAGATCCGGCGGATTGACTGCCTGCGC)CAGGCTGACAAGGTGTGGCGGCTGGACCTGGTCATGGTGATTTTGTTTAAGGGGATCCCCCTGGAAAGTACTGATGGGGAGCGGCTCTACAAGTCGCCTCAGTGCTCGAACCCCGGCCTGTGCGTCCAGCCACATCACATTGGAGTCACAATCAAAGAACTGGATCTTTATCTGGCTTACTTTGTCCACACTCCGG|GTGAGCTCATTCATTCCACAGCTGCTGCTGAAACAATGACTCCCACAGAACCATCTCCAGACCCTCACCCCACCCCGAGTTCCGGGTCAGAAAGTTGAACTGTATCCTGGACATGTGGATGTCCCTGGCCACCGAAAGTGGCTCAGATAAACAAGGACAACACAGAACTCATGTTCTTGTCTCTGCCAGAGAAGCCACCACCTACCGGAAAC MYSPYCLTQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRKDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTP|gelihstaaaetmtptepspdphptpssgses* 05BR042 ENSG00000184992.13 ENSG00000139364.10 +/+ +/- chr12:125012636 chr12:125345881 CDS/splice-site intron inversion/3'-3' 3 9 0 82 20 high out-of-frame . . . . ENSG00000184992.13 ENSG00000139364.10 ENST00000341446.9 . downstream downstream duplicates(3),mismappers(1) ^(GGTGGCGCAGCAGCGGCGGCGGCGGCTGTGGGTAAAGGCGCGGCGCGCGGCCCCCGAGCGCGCCAACCTTGCCCTAGCCGGAGCCCGCTGCGGCCCAGCGCACGGCCCTCACCCCGCATCGCGACCCCGCGCCCCGCCGGCCGAGCATGGGCGCGCGCGCCTCAGGCGGGCCCCTGGCCCGGGCCGGGCTCCTGCTGCTGCTGCTGCTGCTGCTGCTGCTCGGGCTGCTGGCCCCGGGCGCGCAGGGGGCGCGGGGCCGCGGCGGCGCGGAGAAGAACAGCTACCGCCGCACGGTCAACA)CCTTCTCCCAGAGCGTCAGCAGCCTGTTCGGCGAGGACAACGTGCGCGCCGCTCAGAAG___TTCTTGGCCAGGCTGACTGAGAGATTTGTGCTGGGAGTGGATATGTTCGTGGAGACACTGTGGAAAGTCTGGACCGAGCTCTTGGATGTTCTTGGACTTGACG|GTAGACCGTGTGGCCCGCGTTCTGAACGTGAAATGAGGCCCTATTCAGTCTGCCGATTTCCTAGAGAGGTATTTACCACTGGACAGAACGAGGTGGGCCCTGAGAGCAGGAAATGAGGAAGGAGCAATGAGGCCCAGCTGAAAAGAACTTCTCATCACTGCCCTCCTTATGAGCCAAGAAGAGAGTCAAGTTCAGGTTCAGAGAGAACACAAGGTGCACCAGACAGATGCTCTGTGGCTAAAGGATGCTCCGACTCAAAATACCAATGGCAGATGGCTCCAAGGAAGCCCTAAAGACAGCCTCGGCAGGAAGAGAGG MGARASGGPLARAGLLLLLLLLLLLGLLAPGAQGARGRGGAEKNSYRRTVNTFSQSVSSLFGEDNVRAAQKFLARLTERFVLGVDMFVETLWKVWTELLDVLGLD|grpcgprseremrpysvcrfprevfttgqnevgpesrk* 05BR042 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 6 6 0 12 23 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(1) AGGAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGG(TTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 05BR042 ENSG00000004700.16 ENSG00000284634.1 -/- +/- chr12:21490199 chr12:9449733 CDS/splice-site intron deletion/5'-5' 6 6 0 85 12 high out-of-frame . DEAD/DEAH_box_helicase(100%)| . . ENSG00000004700.16 ENSG00000284634.1 ENST00000444129.7 . upstream downstream duplicates(1) ^(GTGGATGCTCTCAGCTGGCTGGCGGGAAGATTTTACTCCCGAGTAGCGGAAAGATCTGCTCGAGGCCTGGGTGCTTTGGTGTCGGAGATCCGAGAGTCGGAGATCGGAGAGTCGGACACAGGACAGTCGGACACCGGACAGTCAAACACCGGAGAGTTAGACCGGGCTTCTCGGTGGGGAGAGGCTCTGGGATAACTACTGTTACAGCTTTGAAGGGTCAAGGGTGTGCGCTTTTTGTTTCATCCTTCCCTTTCCTGCTGCAGGGCGAGGCCGGTCTGTAGCGGATCACTTCCTTTCGCCCACACATTGGCGGAGGAGAAACCGGAAAGTTAATCACTGCCCTGCTCTGAGAACTCGGGCCTTTAGGGGCACGTTCGCCTGCTGACCGGTCTTCTGATCTCCCCATTCTTTTCCATGCAGGAGGATTGGCCACCAAAGCCTGTTTATTAGCAGCTGCCATTTGTTG___AAAGAAATTTGGATTATTTTAGAAACAAATTTGGAAAGAAAAAGAATGGCGTCCGTTTCAG___CTCTAACTGAGGAACTGGATTCTATAACCAGTGAGCTACATGCAGTAGAAATTCAAATTCAAGAACTTACGGAAAGGCAACAAGAGCTTATTCAGAAAAAAAAAGTCCTGACA)AAGAAAATAAAGCAGTGTTTAGAGGATTCTGATGCCGGGGCAAGCAATGAATATGATTCTTCACCTGCCGCTTGGAATAAAGAAG___ATTTTCCATGGTCTGGTAAAGTTAAAGATATTCTGCAAAATGTCTTTAAACTGGAAAAGTTCAGACCACTTCAGCTTGAAACTATTAACGTAACAATGGCTGGAAAGGAGGTATTTCTTGTTATGCCTACAGGAGGTGGAAAGAGCTTATGTTACCAGTTACCAGCATTATGTTCAGATG|GTCTGCACTGCCTTTACGAGCTGTAACACTCACTGTAAATGTCTGCAGCTTCACTCCTGAAGCTAGTGAGAGCACGAACCCACCGGGGTGAACGAGCAACTCCAGTACACGCCGTCTTAAAAGCTGTAACACTCAGGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCAAGACCACAAACCCACCAGAAGGAAAAAACTCCGAACCTATTGGAACATCCGAGGGAACAAACTCCAG MASVSALTEELDSITSELHAVEIQIQELTERQQELIQKKKVLTKKIKQCLEDSDAGASNEYDSSPAAWNKEDFPWSGKVKDILQNVFKLEKFRPLQLETINVTMAGKEVFLVMPTGGGKSLCYQLPALCSD|glhclyel* 05BR042 ENSG00000130939.20 ENSG00000223665.1(157756),ENSG00000127989.14(69661) +/+ ./- chr1:10161286 chr7:91801268 CDS/splice-site intergenic translocation 3 5 2 91 61 high out-of-frame . Ubiquitin_elongating_factor_core(100%)| . . ENSG00000130939.20 . ENST00000672724.1 . downstream downstream . ^(GACGGGGTGGGACGGAGGCGGGGAGAGGACGCAGGCGAGAGGAACTCGGCGGCGCGGCGCCCGCGGCCTATTGGCTGCCACGTCCCGGCGCCAGAAGCCCCGCCTCCCTGACGGGGGTCACGTGATCCCTTTCAAAGATGGCCGCCCTGTTGTTTTGATGAATAATACTTGGTGGGGCGAGGGGGAAAGAGTAGGGGTGGAGGGGTAGGAGGATTTACTCTTCCAGCGAGAGCTACGCGCATCCCATCCTCCCCCTCCCCCCTACCCGGGCTCCGGCGTGGAGGCGGGGCGTGGCCGGCCTGCTTTGGGAGGGGAGGGGCTTCCCTTACAGTGCTGGGCTCTGCCAGGACGGCTGTGGGGTCGCCTTACCTCGGGGTATCCACTCTGCAGTCGACCAGTTCCCGCCAGGAGCAAAGGGTAGGAAGGAGAGCAGGATCTGCTGTAGGAACGCAGCTACCGCGCCACTATCACGAAGAAACAGCAGGCTCGGGGCACGAGACGAACTGGAGACCGCGCTGCCTAGCTGGGTAACCTGGGAAGCAGAGGGTAATAAGTGGCGCCTTAAGACAACCCTGTAGCAGCAGCAGTGGCGGCCAAAGGAGGCTGCTCAGGGAACAAGCGGCTGTAGTAGTCTGTGGGGCGACTGGAGTGACCGAAGCCAAGGCAGTTTAGTGCCTCTCGTGTTCTTATTTTTTAACCTCTGACTATGCAATTCTGAAACCTCCCCCATTCGGGGGACCAGACAGCCTGATAGACACCTTCCACTCTCCTTCCTCCCGCCGTGGTCTCGAGAACAGAAGGATCTCTCCTTAACGCCTTTCACCATTAAGAGGAAAGCGATGGAGGAGCTGAGCGCTGATGAG___ATTCGACGGAGGCGCCTTGCACGACTTGCTGGTGGACAGACCTCTCAGCCAACCACCCCACTCACCTCTCCCCAGAGGGAGAACCCTCCGGGGCCTCCCATAGCGGCATCAGCCCCAGGACCCTCTCAGAGTCTTGGTCTCAATGTCCACAACATGACCCCAGCTACCTCCCCAATAGGTGCATCAG___GAGTAGCCCATCGAAGCCAGAGCAGTGAAGGAGTCAGTTCTCTCAGCAGCTCGCCCTCTAATAGCCTTGAAACGCAATCTCAGTCTCTCTCACGTTCCCAGAGCATGGATATCGATGGTGTCTCATGTGAGAAAAG___CATGTCCCAGGTGGATGTGGATTCAGGAATTGAAAACATGGAGGTTGATGAAAATGATCGAAGAGAAAAGCGGAGCCTCAGTGATAAG___GAGCCTTCCTCGGGCCCTGAAGTGTCTGAAGAGCAGGCCTTACAGCTGGTCTGTAAGATCTTCCGTGTCTCTTGGAAGGACCGGGACAGAGATGTCATCTTTCTTTCTTCTCTTTCTGCACAGTTTAAGCAGAACCCAAAAGAAG___TATTCTCCGATTTTAAGGACTTGATTGGCCAGATTTTAATGGAAGTGCTAATGATGTCCACTCAGACCAGAGATGAAAACCCATTTGCCAGTCTGACAGCCACATCACAGCCAATTGCTGCAGCAGCACGGTCACCAGACAGAAATCTCTTGCTAAACACTGGCTCCAATCCAGGAACAAGCCCCATGTTCTGCAGCGTGGCTTCCTTTGGTGCCAGCTCTTTGTCTAG___CCTCTATGAAAGTAGTCCGGCTCCCACTCCCAGTTTCTGGAGCTCTGTTCCCGTGATGGGCCCGTCTCTTGCCTCACCTTCCCGTGCAGCCAGCCAGTTGGCTGTGCCTTCCACTCCCCTCAGTCCTCACAGTGCAGCCTCTGGAACTGCTGCGGGAAGCCAGCCTTCATCCCCGCGGTATCGCCCCTACACTGTCACTCACCCATGGGCGTCCTCAGGCGTCTCCATTCTGTCGAGCTCCCCAAGTCCCCCTGCCCTCGCCAGTAGCCCCCAAGCAGTGCCCGCCAGCAGTTCCAGACAGAGGCCCAGCAGCACGGGTCCACCCCTACCACCCGCCTCACCCAGTGCCACGAGCAGACGCCCCTCCTCCCTGAGGATCTCTCCTAG___TATGTACGACAATCCTTTCTCCTTCCTCTTCCTCGCACTTTCTGGGGACAGTAGTGATGAAGAAGATGAAGAAGAAGATGATGATGATGGTGATGGTGATGATGAAGGTGGTGGTGGTGGTGATGATTTTTCTTGTGTCCAGTTTGGGTCCAG___TTTGGGAGCCTCTGGTGGAGCAAGTAATTGGGATTCCTACAGTGACCATTTCACCATTGAAACCTGCAAAGAGACAGATATGCTGAACTACCTCATCGAGTGTTTCGACCGAGTTGGAATAGAGGAAAAAAAAGCACCAAAG___ATGTGCAGCCAGCCAGCAGTCAGCCAGCTTCTGAGCAACATCCGCTCACAGTGCATATCCCATACTGCTTTAGTACTACAAGGCTCCCTAACACAGCCCAG___GTCCTTGCAGCAGCCGTCCTTCCTAGTGCCGTATATGCTGTGTAGGAATCTCCCATATGGCTTCATTCAGGAACTGGTGAGAACCACTCACCAGGATGAAGAAGTGTTCAAGCAG___ATATTTATCCCCATTTTACAAGGCCTGGCTCTTGCTGCCAAAGAGTGCTCCCTCGACAGTGACTACTTTAAATACCCCCTCATG___GCACTAGGTGAGCTCTGTGAAACCAAGTTTGGGAAGACACACCCTGTGTGCAATTTG___GTTGCTTCTTTGCGGTTGTGGTTGCCGAAATCCTTAAGTCCTGGCTGTGGGCGGGAGCTGCAGAGACTCTCTTACTTAGGGGCTTTCTTTAGCTTCTCAGTCTTTGCAGAAGATGAT___GTTAAAGTGGTTGAAAAATACTTCTCAGGGCCTGCCATTACCCTGGAAAACACTCGTGTGGTTAGCCAATCATTGCAGCATTACTTAGAGCTCGGAAGG___CAAGAGCTTTTTAAGATTCTGCATAGTATTTTGTTAAATGGCGAAACCCGTGAGGCTGCTCTCAGTTACATGGCGGCTGTCGTCAATGCCAATATGAAGAAAGCACAGATGCAG___ACAGATGATAGATTGGTGTCTACAGATGGATTTATGCTGAATTTCCTTTGGGTACTGCAGCAGCTAAGTACAAAAATCAAGTTAGAAACAGTTGATCCCACGTATATTTTTCACCCAAGATGTCGGATTACTCTTCCCAATGATGAGACGCGTGTGAATGCAACGATGGAAGATGTGAATGACTGGCTGACTGAACTCT___ATGGCGATCAGCCTCCATTTTCTGAGCCGAAATTCCCTACGGAGTGCTTCTTTCTCACCCTGCATGCTCACCACCTCTCTATTCTGCCTAGTTGCCGTCGCTATATCCGCAGACTCCGGGCTATCCGGGAGCTCAATAG___AACTGTAGAAGATTTGAAAAATAATGAAAGCCAATGGAAAGATTCCCCACTGGCAACTAGACACCGCGAAATGCTGAAGCGCTGTAAAACTCAGCTTAAG___AAACTGGTACGGTGCAAGGCCTGTGCTGATGCTGGCCTACTTGACGAGAGCTTCCTGAGAAGATGTCTGAATTTTTATGGCCTTCTCATTCAGCTGCTGCTCCGCATCCTGGACCCCGCATATCCCGA___TATAACACTGCCTTTAAATTCAGATGTCCCCAAGGTATTTGCAGCGTTGCCTGAGTTTTATGTAGAAGATGTTGCAGAATTTTTATTTTTTATTGTACA___ATACTCTCCCCAGGCGCTTTATGAGCCCTGTACTCAGGATATTGTGATGTTCCTTGTTGTGATGTTGTGCAACCAGAACTACATCCGAAACCCATATTTGGTGGCCAAACTGGTAGAAGTCATGTTTATGACCAACCCTGCTGTTCAGCCACGAACCCAGAAGTTTTTTGAAATGATTGAGAACCATCCTCTCTCCACCAAGTTGTTGGTACCTTCCCTGATGAAGTTTTATA)CAG___ATGTTGAGCATACCGGAGCCACCAGTGAGTTTTATGACAAGTTCACAATTCGCTATCATATTAGCACCATTTTTAAAAGCCTTTGGCAAAACATAGCTCACCATGGCACCTTTATGGAGGAGTTCAA___CTCCGGGAAGCAGTTTGTTCGCTATATAAACATGTTGATAAACGACACGACGTTTTTGCTCGATGAAAGTCTGGAGTCTCTGAAGCGAATCCATGAAGTGCAGGAAGAGATGAAGAACAAAGAACAGTGGGACCAGTTGCCCCGG|GCCCATAAAAGCCCTGGATTCAGCCAGACGAGGATACAATGGGACGGCTAGCTGCGGAGAGAAGCTACCTGCTCAAGAGTCTCCCTTTTGCTGAGAGCTGAGTAGATGACGAAACAACCTGTGTGGAGAGAGGAGCTCCTCACTCCAGGGTCTCCTCTCTGCTCAGAGCTGAACACTCACTGGGACACCCTGGCTGTGGAGAGGAGCTACCCTCTGTGGGTCTCCTCTGAGCTGTTCTGTCACCCAA MEELSADEIRRRRLARLAGGQTSQPTTPLTSPQRENPPGPPIAASAPGPSQSLGLNVHNMTPATSPIGASGVAHRSQSSEGVSSLSSSPSNSLETQSQSLSRSQSMDIDGVSCEKSMSQVDVDSGIENMEVDENDRREKRSLSDKEPSSGPEVSEEQALQLVCKIFRVSWKDRDRDVIFLSSLSAQFKQNPKEVFSDFKDLIGQILMEVLMMSTQTRDENPFASLTATSQPIAAAARSPDRNLLLNTGSNPGTSPMFCSVASFGASSLSSLYESSPAPTPSFWSSVPVMGPSLASPSRAASQLAVPSTPLSPHSAASGTAAGSQPSSPRYRPYTVTHPWASSGVSILSSSPSPPALASSPQAVPASSSRQRPSSTGPPLPPASPSATSRRPSSLRISPSMYDNPFSFLFLALSGDSSDEEDEEEDDDDGDGDDEGGGGGDDFSCVQFGSSLGASGGASNWDSYSDHFTIETCKETDMLNYLIECFDRVGIEEKKAPKMCSQPAVSQLLSNIRSQCISHTALVLQGSLTQPRSLQQPSFLVPYMLCRNLPYGFIQELVRTTHQDEEVFKQIFIPILQGLALAAKECSLDSDYFKYPLMALGELCETKFGKTHPVCNLVASLRLWLPKSLSPGCGRELQRLSYLGAFFSFSVFAEDDVKVVEKYFSGPAITLENTRVVSQSLQHYLELGRQELFKILHSILLNGETREAALSYMAAVVNANMKKAQMQTDDRLVSTDGFMLNFLWVLQQLSTKIKLETVDPTYIFHPRCRITLPNDETRVNATMEDVNDWLTELYGDQPPFSEPKFPTECFFLTLHAHHLSILPSCRRYIRRLRAIRELNRTVEDLKNNESQWKDSPLATRHREMLKRCKTQLKKLVRCKACADAGLLDESFLRRCLNFYGLLIQLLLRILDPAYPDITLPLNSDVPKVFAALPEFYVEDVAEFLFFIVQYSPQALYEPCTQDIVMFLVVMLCNQNYIRNPYLVAKLVEVMFMTNPAVQPRTQKFFEMIENHPLSTKLLVPSLMKFYTDVEHTGATSEFYDKFTIRYHISTIFKSLWQNIAHHGTFMEEFNSGKQFVRYINMLINDTTFLLDESLESLKRIHEVQEEMKNKEQWDQLPR|ahkspgfsqtriqwdg* 05BR042 ENSG00000279334.1(5025),ENSG00000280097.1(25873) ENSG00000196498.13 ./- -/- chr12:124567308 chr12:124495368 intergenic 5'UTR/splice-site deletion/read-through 6 4 0 36 91 high . . |G-protein_pathway_suppressor_2-interacting_domain(100%),Myb-like_DNA-binding_domain(100%) . . . ENSG00000196498.13 . ENST00000404621.5 upstream downstream duplicates(1) CCCAGCCCGATCGGCACCGCCACTTGCCTGAGCGCCCCGGCGGCCCGAGCGCGCCCCAAGCCCGGGCGCCACCGCTGCCACCTCCGCGAG|GTGCCAGTGACGGGGTGGCCCGTGAGCTGATGACGAGGACTGGCTTTTAATCCTTGGTGGTGATTAAGAGAAAGCTTATTGGGGCCTGGGAGCAGCTCCCCGCCGACCCCCACCACCATGTCGGGATCCACACAGCCTGTGGCACAGACGTGGAGGGCCACTGAGCCCCGCTACCCGCCCCACAGCCTTTCCTAC(CCAGTGCAGATCGCCCGGACGCACACG___GACGTCGGGCTCCTGGAGTACCAGCACCACTCCCGCGACTATGCCTCCCACCTGTCGCCCGGCTCCATCATCCAGCCCCAGCGGCGGAGGCCCTCCCTGCTGTCTGAGTTCCAGCCCGGGAATGAACG___GTCCCAGGAGCTCCACCTGCGGCCAGAGTCCCACTCATACCTGCCCGAGCTGGGGAAGTCAGAGATGGAGTTCATTGAAAGCAAGCGCCCTCGGCTAGAGCTGCTGCCTGACCCCCTGCTGCGACCGTCACCCCTGCTGGCCACGGGCCAGCCTGCGGGATCTGAAGACCTCACCAAG___GACCGTAGCCTGACGGGCAAGCTGGAACCGGTGTCTCCCCCCAGCCCCCCGCACACTGACCCTGAGCTGGAGCTGGTGCCGCCACGGCTGTCCAAGGAGGAGCTGATCCAGAACATGGACCGCGTGGACCGAGAGATCACCATGGTAGAGCAGCAGATCTCTAAGCTGAAGAAGAAGCAG___CAACAGCTGGAGGAGGAGGCTGCCAAGCCGCCCGAGCCTGAGAAGCCCGTGTCACCGCCGCCCATCGAGTCGAAGCACCGCAGCCTGGTGCAGATCATCTACGACGAGAACCGG___AAGAAGGCTGAAGCTGCACATCGGATTCTGGAAGGCCTGGGGCCCCAGGTGGAGCTG___CCGCTGTACAACCAGCCCTCCGACACCCGGCAGTATCATGAGAACATCAAAAT___AAACCAGGCGATGCGGAAGAAGCTAATCTTGTACTTCAAGAGGAGGAATCACGCTCGGAAACAATGG___GAGCAGAAGTTCTGCCAGCGCTATGACCAGCTCATGGAGGCCTGGGAGAAGAAGGTGGAGCGCATCGAGAACAACCCCCGGCGGCGGGCCAAGGAGAGCAAGGTGCGCGAGTACTACGAGAAGCAGTTCCCTGAGATCCGCAAGCAGCGCGAGCTGCAGGAGCGCATGCAGAG___GGTGGGCCAGCGGGGCAGTGGGCTGTCCATGTCGGCCGCCCGCAGCGAGCACGAGGTGTCAGAGATCATCGATGGCCTCTCAGAGCAGGAG___AACCTGGAGAAGCAGATGCGCCAGCTGGCCGTGATCCCGCCCATGCTGTACGACGCTGACCAGCAGCGCATCAAGTTCATCAACATGAACGGGCTTATGGCCGACCCCATGAAGGTGTACAAAGACCGCCAGGTCATGAACATGTGGAGTGAGCAGGAGAAGGAGACCTTCCGGGAGAA___GTTCATGCAGCATCCCAAGAACTTTGGCCTGATCGCATCATTCCTGGAGAGGAAG___ACAGTGGCTGAGTGCGTCCTCTATTACTACCTGACTAAGAAGAATGAGAACTATAAGAGCCTGGTGAGACGGAGCTATCGGCGCCGCGGCAAGAGCCAG___CAGCAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCCCATGCCCCGCAGCAGCCAGGAGGAGAAAGATGAGAAGGAGAAGGAAAAGGAGGCGGAGAAGGAGGAGGAGAAGCCGGAGGTGGAGAACGACAAGGAAGACCTCCTCAA___GGAGAAGACAGACGACACCTCAGGGGAGGACAACGACGAGAAGGAGGCTGTGGCCTCCAAAGGCCGCAAAACTGCCAACAGCCAGGGAAGACGCAAAGGCCGCATCACCCGCTCAATGGCTAATGAGGCCAACAGCGAGGAGGCCATCACCCCCCAGCAGAGCGCCGAGCTGG___CCTCCATGGAGCTGAATGAGAGTTCTCGCTGGACAGAAGAAGAAATGGAAACAGCCAAGAAAG___GTCTCCTGGAACACGGCCGCAACTGGTCGGCCATCGCCCGGATGGTGGGCTCCAAGACTGTGTCGCAGTGTAAGAACTTCTACTTCAACTACAAGAAGAGGCAGAACCTCGATGAGATCTTGCAGCAGCACAAGCTGAAGATG___GAGAAGGAGAGGAACGCGCGGAGGAAGAAGAAGAAAGCGCCGGCGGCGGCCAGCGAGGAGGCTGCATTCCCGCCCGTGGTGGAGGATGAGGAGATGGAGGCGTCGGGCGTGAGCGGAAATGAGGAGGAGATGGTGGAGGAGGCTGAAG___CCACTGTCAACAACAGCTCAGACACCGAGAGCATCCCCTCTCCTCACACTGAGGCCGCCAAGGACACAGGGCAGAATGGGCCCAAGCCCCCAGCCACCCTGGGCGCCGACGGGCCACCCCCAGGGCCACCCACCCCACCACCGGAGGACATCCCGGCCCCCACTGAGCCCACCCCGGCCTCTGAAGCCACCGGAGCCCCTACGCCCCCACCAGCACCCCCATCGCCCTCTGCACCTCCTCCTGTGGTCCCCAAGGAGGAGAAGGAGGAGGAGACCGCAGCAGCGCCCCCAGTGGAGGAGGGGGAGGAGCAGAAGCCCCCCGCGGCTGAGGAGCTGGCAGTGGACACAGGGAAGGCCGAGGAGCCCGTCAAGAGCGAGTGCACGGAGGAAGCCGAGGAGGGGCCGGCCAAGGGCAAGGACGCGGAGGCCGCTGAGGCCACGGCCGAGGGGGCGCTCAAGGCAGAGAAGAAGGAGGGCGGGAGCGGCAGGGCCACCACAGCCAAGAGCTCGGGCGCCCCCCAGGACAGCGACTCCAGTGCTACCTGCAGTGCAGACGAGGTGGATGAGGCCGAGGGCGGCGACAAGAACCG___GCTGCTGTCCCCAAGGCCCAGCCTCCTCACCCCGACTGGCGACCCCCGGGCCAATGCCTCACCCCAGAAGCCACTGGACCTGAAGCAGCTGAAGCAGCGAGCGGCTGCCATCCCCCCCATC___CAGGTCACCAAAGTCCATGAGCCCCCCCGGGAGGACGCAGCTCCCACCAAGCCAGCTCCCCCAGCCCCACCGCCACCGCAAAACCTGCAGCCGGAGAGCGACGCCCCTCAGCAGCCTGGCAGCAGCCCCCGGGGCAAGAGCAGGAGCCCGGCACCCCCCGCCGACAAGGAGG___CAGAGAAGCCTGTGTTCTTCCCAGCCTTCGCAGCCGAGGCCCAGAAGCTGCCTGGGGACCCCCCTTGCTGGACTTCCGGCCTGCCCTTCCCCGTGCCCCCCCGTGAGGTGATCAAGGCCTCCCCGCATGCCCCGGACCCCTCAGCCTTCTCCTACGCTCCACCTG___GTCACCCACTGCCCCTGGGCCTCCATGACACTGCCCGGCCCGTCCTGCCGCGCCCACCCACCATCTCCAACCCGCCTCCCCTCATCTCCTCTGCCAAGCACCCCAGCGTCCTCGAGAGGCAAATAGGTGCCATCTCCCAA___GGAATGTCGGTCCAGCTCCACGTCCCGTACTCAGAGCATGCCAAGGCCCCGGTGGGCCCTGTCACCATGGGGCTGCCCCTGCCCATGGACCCCAAAAAGCTGG___CACCCTTCAGCGGAGTGAAGCAGGAGCAGCTGTCCCCACGGGGCCAGGCTGGGCCACCGGAGAGCCTGGGGGTGCCCACAGCCCAGGAGGCGTCCGTGCTGAGAG___GGACAGCTCTGGGCTCAGTTCCGGGCGGAAGCATCACCAAAGGCATTCCCAGCACACGGGTGCCCTCGGACAGCGCCATCACATACCGCGGCTCCATCACCCAC___GGCACGCCAGCTGACGTCCTGTACAAGGGCACCATCACCAGGATCATCGGCGAGGACAGCCCGAGTCGCTTGGACCGCGGCCGGGAGGACAGCCTGCCCAAGGGCCACGTCATCTACGAAGGCAAGAAGGGCCACGTCTTGTCCTATGAGG___GTGGCATGTCTGTGACCCAGTGCTCCAAGGAGGACGGCAGAAGCAGCTCAGGACCCCCCCATGAGACGGCCGCCCCCAAGCGCACCTATGACATGATGGAGGGCCGCGTGGGCAGAGCCATCTCCTCAGCCAGCATCGAAG___GTCTCATGGGCCGTGCCATCCCGCCGGAGCGACACAGCCCCCACCACCTCAAAGAGCAGCACCACATCCGCGGGTCCATCACACAAG___GGATCCCTCGGTCCTACGTGGAGGCACAGGAGGACTACCTGCGTCGGGAGGCCAAGCTCCTAAAGCGGGAGGGCACGCCTCCGCCCCCACCGCCCTCACGGGACCTGACCGAGGCCTACAAGACGCAGGCCCTGGGCCCCCTGAAGCTGAAGCCGGCCCATGAGGGCCTGGTGGCCACGGTGAAGGAGGCGGGCCGCTCCATCCATGAGATCCCGCGCGAGGAGCTGCGGCACACGCCCGAGCTGCCCCTGGCCCCGCGGCCGCTCAAGGAGGGCTCCATCACGCAG___GGCACCCCGCTCAAGTACGACACCGGCGCGTCCACCACTGGCTCCAAAAAGCACGACGTACGCTCCCTCATCGGCAGCCCCGGCCGGACGTTCCCACCCGTGCACCCGCTGGATGTGATGGCCGACGCCCGGGCACTGGAACGTGCCTGCTACGAGGAGAGCCTGAAGAGCCGGCCAGGGACCGCCAGCAGCTCGGGGGGCTCCATTGCGCGCGGCGCCCCGGTCATTGTGCCTGAGCTGGGTAAGCCGCGGCAGAGCCCCCTGACCTATGAGGACCACGGGGCACCCTTTGCCGGCCACCTCCCACGAGGTTCGCCCGTGACCACGCGGGAGCCCACGCCGCGCCTGCAGGAGG___GCAGCCTTTCGTCCAGCAAGGCATCCCAGGACCGAAAGCTGACGTCGACGCCTCGTGAGATCGCCAAGTCCCCGCACAGCACCGTGCCCGAGCACCACCCACACCCCATCTCGCCCTATGAGCACCTGCTTCGGGGCGTGAGTGGCGTGGACCTGTATCGCAGCCACATCCCCCTGGCCTTCGACCCCACCTCCATACCCCGCGGCATCCCTCTGGACGCAG___CCGCTGCCTACTACCTGCCCCGACACCTGGCCCCCAACCCCACCTACCCGCACCTGTACCCACCCTACCTCATCCGCGGCTACCCCGACACGGCGGCGCTGGAGAACCGGCAGACCATCATCAATGACTACATCACCTCGCAGCAGATGCACCACAACGCGGCCACCGCCATGGCCCAGCGAGCTGATATGCTGAGGGGCCTCTCGCCCCGCGAGTCCTCGCTGGCACTCAACTACGCTGCGGGTCCCCGAG___GCATCATCGACCTGTCCCAAGTGCCACACCTGCCTGTGCTCGTGCCCCCGACACCAGGCACCCCAGCCACCGCCATGGACCGCCTTGCCTACCTCCCCACCGCGCCCCAGCCCTTCAGCAGCCGCCACAGCAGCTCCCCACTCTCCCCAG___GAGGTCCAACACACTTGACAAAACCAACCACCACGTCCTCGTCCGAGCGGGAGCGAGACCGGGATCGAGAGCGGGACCGGGATCGGGAGCGGGAAAAGTCCATCCTCACGTCCACCACGACGGTGGAGCACGCACCCATCTGGAGACCTG___GTACAGAGCAGAGCAGCGGCAGCAGCGGCGGGGGTGGGGGCAGCAGCAGCCGCCCCGCCTCCCACTCCCATGCCCACCAGCACTCGCCCATCTCCCCTCGGACCCAGGATGCCCTCCAGCAGAGACCCAGTGTGCTTCACAACACAGGCATGAAGGGTATCATCACCGCTGTGGAGCCCAGCACGCCCACGGTCCTGAG___GTCCACCTCCACCTCCTCACCCGTTCGCCCGGCTGCCACATTCCCACCTGCCACCCACTGCCCACTGGGCGGCACCCTCGATGGGGTCTACCCTACCCTCATGGAGCCCGTCTTGCTGCCCAAGGAGGCCCCCCGGGTCGCCCGGCCAGAGCGGCCCCGAGCAGACACCGGCCATGCCTTCCTCGCCAAGCCCCCAGCCCGCTCCGGGCTGGAGCCCGCCTCCTCCCCCAGCAAGGGCTCGGAGCCCCGGCCCCTAGTGCCTCCTGTCTCTGGCCACGCCACCATCGCCCGCACCCCTGCGAAGAACCTCGCACCTCACCACGCCAGCCCGGACCCGCCGGCGCCACCTGCCTCGGCCTCGGACCCGCACCGGGAAAAGACTCAAAGTAAACCCTTTTCCATCCAGGAACTGGAACTCCGTTCTCTGG___GTTACCACGGCAGCAGCTACAGCCCCGAAGGGGTGGAGCCCGTCAGCCCTGTGAGCTCACCCAGTCTGACCCACGACAAGGGGCTCCCCAAGCACCTGGAAGAGCTCGACAAGAGCCACCTGGAGGGGGAGCTGCGGCCCAAGCAGCCAG___GCCCCGTGAAGCTTGGCGGGGAGGCCGCCCACCTCCCACACCTGCGGCCGCTGCCTGAGAGCCAGCCCTCGTCCAGCCCGCTGCTCCAGACCGCCCCAGGGGTCAAAGGTCACCAGCGGGTGGTCACCCTGGCCCAGCACATCAGT___GAGGTCATCACACAGGACTACACCCGGCACCACCCACAGCAGCTCAGCGCACCCCTGCCCGCCCCCCTCTACTCCTTCCCTGGGGCCAGCTGCCCCGTCCTGGACCTCCGCCGCCCACCCAGTGACCTCTACCTCCCGCCCCCGGACCATGGTGCCCCGGCCCGTGGCTCCCCCCACAGCGAAGGGGGCAAGAG___GTCTCCAGAGCCAAACAAGACGTCGGTCTTGGGTGGTGGTGAGGACGGTATTGAACCTGTGTCCCCACCGGAGGGCATGACGGAGCCAGGGCACTCCCGGAGTGCTGTGTACCCGCTGCTGTACCGGGATGGGGAACAGACGGAGCCCAG___CAGGATGGGCTCCAAGTCTCCAGGCAACACCAGCCAGCCGCCAGCCTTCTTCAGCAAGCTGACCGAGAGCAACTCCGCCATGGTCAAGTCCAAGAAGCAAGAGATCAACAAGAAGCTGAACACCCACAACCGGAATGAGCCTGAATACA___ATATCAGCCAGCCTGGGACGGAGATCTTCAATATGCCCGCCATCACCGGAACAG___GCCTTATGACCTATAGAAGCCAGGCGGTGCAGGAACATGCCAGCACCAACATGGGGCTGGAGGCCATAATTAGAAAGGCACTCATGG___GTGGCGGCGGGAAGGCCAAGGTCTCTGGCAGACCCAGCAGCCGAAAAGCCAAGTCCCCGGCCCCGGGCCTGGCATCTGGGGACCGGCCACCCTCTGTCTCCTCAGTGCACTCGGAGGGAGACTGCAACCGCCGGACGCCGCTCACCAACCGCGTGTGGGAGGACAGGCCCTCGTCCGCAG___GTTCCACGCCATTCCCCTACAACCCCCTGATCATGCGGCTGCAGGCGGGTGTCATGGCTTCCCCACCCCCACCGGGCCTCCCCGCGGGCAGCGGGCCCCTCGCTGGCCCCCACCACGCCTGGGACGAGGAGCCCAAGCCACTGCTCTGCTCGCAGTACGAGACACTCTCCGACAGCGAGTGACTCAGAACAGGGCGGGGGGGGGGGCGGTGTCAGGTCCCAGCGAGCCACAGGAACGGCCCTGCAGGAGCAGGGCGGCTGCCGACTCCCCCAACCAAGGAAGGAGCCCCTGAGTCCGCCTGCGCCTCCATCCATCTGTCCGTCCAGAGCCGGCATCCTTGCCTGTCTAAAGCCTTAACTAAGACTCCCGCCCCGGGCTGGCCCTGTGCAGACCTTACTCAGGGGATGTTTACCTGGTGCTCGGGAAGGGAGGGGAAGGGGCCGGGGAGGGGGCACGGCAGGCGTGTGGCAGCCACACGCAGGCGGCCAGGGCGGCCAGGGACCCAAAGCAGGATGACCACGCACCTCCACGCCACTGCCTCCCCCGAATGCATTTGGAACCAAAGTCTAAACTGAGCTCGCAGCCCCCGCGCCCTCCCTCCGCCTCCCATCCCGCTTAGCGCTCTGGACAGATGGACGCAGGCCCTGTCCAGCCCCCAGTGCGCTCGTTCCGGTCCCCACAGACTGCCCCAGCCAACGAGATTGCTGGAAACCAAGTCAGGCCAGGTGGGCGGACAAAAGGGCCAGGTGCGGCCTGGGGGGAACGGATGCTCCGAGGACTGGACTGTTTTTTTCACACATCGTTGCCGCAGCGGTGGGAAGGAAAGGCAGATGTAAATGATGTGTTGGTTTACAGGGTATATTTTTGATACCTTCAATGAATTAATTCAGATGTTTTACGCAAGGAAGGACTTACCCAGTATTACTGCTGCTGTGCTTTTGATCTCTGCTTACCGTTCAAGAGGCGTGTGCAGGCCGACAGTCGGTGACCCCATCACTCGCAGGACCAAGGGGGCGGGGACTGCTGGCTCACGCCCCGCTGTGTCCTCCCTCCCTCCCTTCCTTGGGCAGAATGAATTCGATGCGTATTCTGTGGCCGCCATCTGCGCAGGGTGGTGGTATTCTGTCATTTACACACGTCGTTCTAATTAAAAAGCGAATTATACTCCA)$ . 05BR042 ENSG00000082898.17 ENSG00000270335.1(83087),ENSG00000228541.1(29301) -/- ./- chr2:61522611 chr2:62433826 CDS/splice-site intergenic duplication 3 3 1 507 16 high out-of-frame . Importin-beta_N-terminal_domain(100%)| . . ENSG00000082898.17 . ENST00000401558.7 . upstream downstream duplicates(2) ^(AGGTTCCAAACGCTCCGCGGCGCCATGGGCTGAAAACTCAACCGAGATGGAATCTCCCAGTCTGAACCGGTTTCAACCGGTTCCGAGTTTGAGGCACTAGGAGGAGGGGGAGAAGCGGCTGCAGCGGCCGCGGCAGGAGCAGCGGGAGCTACAGCATCAGCAAGAGCAACAGTAGCTACAGCCCCGGCGGCGGTGCCTGTTCCAGTCTTTGCTGCTGCAGTCCGTGCAACCACCCAGAGGGGGAGGGGGGAACCACCAGTCGCTGAGGAACAAGAGAAGGGGGGAAAGTTTAGGCGAGCCTTGGGGGGGGGGGGGCCAGCGCCGGAGCCGCGTGAGAGAGGGAGCCGTGTTTTGGTAGGGGGGAGTCGGACTGCAACTGGCAGCAGAGCGTCTCCCCGGCCGTGTGGACTCTACACCCCCTACTCCTGCCGCTTCTGCTGCTGCCTGTGGCTGGAGGGTCCCCCTGGGGCTGAATCTTTGGGACTTGACCCCGTTCCCTCCCCCTTCCCTCACTCCCCAGCCGGGCGGGAGCATTTATTCCCCAGATTAATTCCCCTTTTGGGGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGGGGAAGCGTCCCTGAAATAGTAAATATTATTGAGCTCTTTTTGCCCTTTTCCTGTCCGTTTTTTTAATTTCCTTTTTTGAGGTGGGAAAACTGAAACCCACCTTGATTCGTCCCCTCTCCCCCCTCCCCACCTTCCCTCGCCCTAATCCCCCAACGAGGAAGGAAGGAGCAGTTGGTTCAATCTCTGG___TAATCTATGCCAGCAATTATGACAATGTTAGCAGACCATGCAGCTCGTCAGCTGCTTGATTTCAGCCAAAAACTGGATATCAA)CTTATTAGATAATGTGGTGAATTGCTTATACCATGGAGAAGGAGCCCAG___CAAAGAATGGCTCAAGAAGTACTGACACATTTAAAGGAGCATCCTGATGCTTGGACAAGAGTCGACACAATTTTGGAATTTTCTCAGAATATGAATACGAAA___TACTATGGACTACAAATTTTGGAAAATGTGATAAAAACAAGGTGGAAGATTCTTCCAAGGAACCAGTGCGAAG|TGTCATCCACCTCTTCAAGAGCTCCTCTGCCTGGGTCACTGGGTTTCTGGGCCTGAGGCGTTTGCCTGGCATCCCCCAAGATGACGGATTTCCCGAG___GTACATCCAC...___GCCCAGGTACAGGCTCAGCCAGAAGAGGAATCTCCCAGGAGGGCCTCTCCCCAGGCCCAGGCAGGGAAGCACTGCCATGGATAGCATCTGCCAGGACAAGCTGACCTGCACAAGAGACAGTCCACCGTGAAGAG MPAIMTMLADHAARQLLDFSQKLDINLLDNVVNCLYHGEGAQQRMAQEVLTHLKEHPDAWTRVDTILEFSQNMNTKYYGLQILENVIKTRWKILPRNQCE|vsstssraplpgslgfwa* 05BR042 ENSG00000008441.16 ENSG00000266975.1 +/+ +/+ chr19:13025552 chr19:12933149 CDS/splice-site exon/splice-site duplication 1 5 0 492 74 high out-of-frame . MH1_domain(100%),Nuclear_factor_I_protein_pre-N-terminus(100%)| . . ENSG00000008441.16 ENSG00000266975.1 ENST00000397661.6 ENST00000592636.1 downstream upstream duplicates(1),mismatches(1) ^(GCGAGCGCGGCGGCGGCGGCGGCAGCGGCGGCCCCGGAGCCGGCGGGGCCGAGCTTGCGAGCGGCGAGCGCGGAGCGGCGCCGGGCCGAGCGCGGGGCCGCGGGCCGGGCGGGCGCAGCGCGGCGGAGGCCGGAGGAGCCGAGCCGGAGCCCGAGCCCGAGCGCGGCCGCCGCCTGCCGGGCCTCCCCTCGCCGCGGCCGGCCGCCGCGCTCCCGCCCGGGCGCCCAGCTATGTACTCCCCGTACTGCCTCACCCAG___GATGAGTTCCACCCGTTCATCGAGGCACTGCTGCCTCACGTCCGCGCTTTCTCCTACACCTGGTTCAACCTGCAGGCGCGGAAGCGCAAGTACTTCAAGAAGCATGAAAAGCGGATGTCGAAGGACGAGGAGCGGGCGGTGAAGGACGAGCTGCTGGGCGAGAAGCCCGAGATCAAGCAGAAGTGGGCATCCCGGCTGCTGGCCAAGCTGCGCAAGGACATCCGGCCCGAGTTCCGCGAGGACTTCGTGCTGACCATCACGGGCAAGAAGCCCCCCTGCTGCGTGCTCTCCAACCCCGACCAGAAGGGCAAGATCCGGCGGATTGACTGCCTGCGCCAGGCTGACAAGGTGTGGCGGCTGGACCTGGTCATG)GTGATTTTGTTTAAGGGGATCCCCCTGGAAAGTACTGATGGGGAGCGGCTCTACAAGTCGCCTCAGTGCTCGAACCCCGGCCTGTGCGTCCAGCCACATCACATTGGAGTCACAATCAAAGAACTGGATCTTTATCTGGCTTACTTTGTCCACACTCCGG|AGAACAGACTCAGCCGTCACCTGCACCAGGCCGCTCTCCCTGACCCCCAAGGCTGGGTCAGCTGTCACAGCTGGGTCCCCTGTTTTCCCCCATCACTCTGGTTCTTGAAGCACCTTCCTATTACGTCGCAACCTGCGTGAGGGCAGCA$ MYSPYCLTQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRKDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTP|enrlsrhlhqaalpdpqgwvschswvpcfppslwflkhlpitsqpa* 05BR042 ENSG00000213079.9 ENSG00000288520.1 +/+ -/+ chr6:154733930 chr6:154378218 CDS/splice-site intron duplication/5'-5' 2 1 0 85 12 high out-of-frame . . . . ENSG00000213079.9 ENSG00000288520.1 ENST00000367186.7 . downstream upstream duplicates(1),mismappers(5) ^(GCGGATCCCCGAACTGCGCGGCCCGACTCGAGTCCGCCATATTGGATGCCGCAGCCGCTGCTGCCAGCGCTTCCTCCTCTGTCTTCGCCGAGCGGGGCTGGTTCCTGCGGCCCGAGCGGCGGGGAG___)TGCAGTGGCCGCCGCCTCTTCCGCCGCCGGGCTCGGGGCCTCCGCAGCGACAACATGGAGGCCGTGAAGACCTTCAATAGCGAG|GTACAATCTGCCGGGCACGGTGGCTCACGACTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGACAGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCATCTACTCGGGAGGCTGAGACAGGAGAATGGCGTcAACCCGGGAGACGGAG MPQPLLPALPPLSSPSGAGSCGPSGGECSGRRLFRRRARGLRSDNMEAVKTFNSE|vqsaghggsrl* 05BR042 ENSG00000160294.11 ENSG00000284668.2 -/- +/+ chr21:46242802 chr1:3979584 CDS/splice-site intron translocation 1 2 0 153 12 high out-of-frame . Binding_region_of_GANP_to_ENY2(100%),MCM3AP_domain_of_GANP(100%),Nucleoporin_homology_of_Germinal-centre_associated_nuclear_protein(100%),SAC3/GANP_family(100%)| . . ENSG00000160294.11 ENSG00000284668.2 ENST00000397708.1 . upstream upstream duplicates(1) ^(AGTGCTGAGCGAACCGGAAGTCGGTCCGCGGCGTTTTCTGCCCGCGGTGCGCAGCGCTGAGTGTCGCGGCAGCAGCCTGTGCTTGCGCCTCAAGTCTTTCCGAGGGGCCAGTGGGCAGCGCGGGCCTCGGGGTCCTGGGGCGAGACG___CTTGTTCTAAAGACGAAGGGGAACTCCCTAGTGCTACAGGCTGTTTCAGGAAGCCAATTAATTTTGTACACATAATACTTAATTACCTTCTAATAATTGGAGCAGAAGATGAACCCAACTAATCCTTTCAGTGGGCAGCAGCCTAGTGCTTTTTCGGCGTCTTCTAGTAATGTAGGAACACTTCCATCTAAGCCGCCATTTCGATTTGGTCAACCTTCTCTTTTTGGACAAAACAGTACCTTATCTGGGAAGAGCTCGGGATTTTCACAGGTATCCAGCTTTCCAGCGTCTTCTGGAGTAAGTCATTCCTCTTCAGTGCAAACATTAGGGTTCACCCAAACCTCAAGTGTTGGACCCTTTTCTGGACTTGAGCACACTTCCACCTTTGTGGCTACCTCTGGGCCTTCAAGTTCATCTGTGCTGGGAAACACAGGATTTAGTTTTAAATCACCCACCAGTGTTGGGGCTTTCCCAAGCACTTCTGCTTTTGGACAAGAAGCTGGAGAAATAGTGAACTCTGGTTTTGGGAAAACAGAATTCAGCTTTAAACCTCTGGAAAATGCAGTGTTCAAACCAATACTGGGGGCTGAATCTGAGCCAGAGAAAACCCAGAGCCAAATTGCTTCTGGGTTTTTTACATTTTCCCACCCAATTAGTAGTGCACCTGGAGGCCTGGCCCCTTTCTCTTTTCCTCAAGTAACAAGTAGTTCAGCTACCACTTCAAATTTTACCTTTTCAAAACCTGTTAGTAGTAATAATTCATTATCTGCCTTTACCCCTGCTTTGTCAAACCAAAATGTAGAGGAAGAGAAGAGAGGACCTAAGTCAATATTTGGAAGTTCTAATAATAGCTTCAGTAGCTTCCCTGTATCATCTGCGGTTTTGGGCGAACCTTTCCAGGCTAGCAAAGCAGGTGTCAGGCAGGGGTGTGAAGAAGCTGTTTCCCAGGTGGAACCACTTCCCAGCCTAATGAAAGGACTGAAAAGGAAGGAGGACCAGGATCGCTCCCCAAGGAGACATGGCCACGAGCCAGCAGAAGATTCGGATCCTCTGTCCCGGGGCGATCATCCTCCAGACAAACGACCTGTCCGCCTGAATCGACCCCGGGGAGGTACTTTATTTGGTCGGACGATACAGGATGTTTTCAAAAGCAATAAGGAAGTAGGTCGTCTGGGCAACAAGGAGGCCAAAAAGGAAACTGGCTTTGTTGAGTCTGCAGAAAGTGACCACATGGCTATCCCAGGAGGGAATCAGTCTGTCCTGGCACCTTCCCGGATTCCAGGTGTGAATAAAGAGGAAGAAACTGAAAGTAGAGAGAAGAAAGAAG___ATTCTCTAAGAGGAACTCCGGCGCGTCAGAGTAACAGAAGCGAGAGCACAGACAGTCTTGGGGGCTTGTCTCCCTCTGAAGTCACAGCCATCCAGTGCAAGAACATCCCTGACTACCTCAACGACAGGACCATTCTGGAGAACCATTTTGGCAAAATTGCTAAAGTGCAGCGCATCTTTACCAGGCGCAGCAAAAAGCTTGCAGTGGTACATTTCTTTGATCAT___GCATCTGCAGCCCTGGCTAGAAAGAAGGGGAAAAGTTTGCATAAAGACATGGCTATCTTTTGGCACAGGAAGAAAATAA___GCCCCAATAAGAAACCCTTTTCCCTGAAGGAGAAGAAACCAGGTGACGGTGAAGTCAGCCCGAGCACAGAGGATGCACCCTTTCAGCACTCTCCTCTTGGCAAGGCCGCAGGGAGGACTGGTGCTAGCAGCCTCCTGAATAAAAG___CTCTCCAGTGAAGAAGCCAAGTCTTCTAAAGGCCCACCAATTCGAGGGAGACTCTTTTGACTCAGCCTCCGAGGGCTCCGAGGGCCTCGGGCCATGTGTGCTCTCCCTCAGTACCCTGATAGGCACTGTGGCTGAGACATCCAAGGAGAAGTACCGCCTGCTTGACCAGAGAGACAGGATCATGCGGCAAG___CTCGGGTGAAGAGAACCGATCTGGACAAAGCGAGGACTTTTGTTGGCACCTGCCTGGATATGTGTCCTGAGAAGGAGAGGTACATGCGGGAGACCCGTAGCCAGCTGAGCGTGTTCGAAGTGGTCCCAGGGACTGACCAG___GTGGACCACGCAGCAGCTGTGAAAGAGTACAGTCGGTCCTCGGCGGATCAGGAGGAGCCCCTGCCCCACGAGCTGCGGCCCTTGCCAGTGCTCAGCAGGACCATGGACTACCTGGTGACCCAGATCATGGACCAGAAGGAGGGCAGCCTGCGGGATTGGTATGACTTCGTGTGGAACCGCACGCGTGGCATACGGAAG___GATATCACGCAGCAGCACCTCTGTGACCCCCTGACGGTGTCCCTGATTGAGAAGTGCACCCGGTTTCACATCCACTGTGCCCACTTCATGTGTGAGGAGCCCATGTCCTCCTTTGATGCCAAGATCAATAATGAGAACATGACCAAGTGCCTGCAGAGCCTGAAGGAGATGTACCAGGACCTGAGAAACAAGGGTGTCTTCTGTGCCAGCGAAGCGGAGTTCCAGGGCTACAATGTTCTGCTCAGTCTCAACAAGGGAGACATCCTAAG___AGAAGTACAACAGTTCCATCCTGCTGTTAGAAACTCATCTGAGGTGAAATTTGCTGTTCAGGCTTTTGCTGCATTGAACAGTAATAATTTTGTGAGATTTTTCAAACTGGTCCAGTCAGCTTCTTACCTGAACGCTTGTCTTTTACACTGTTACTTCAGTCAG___ATCCGCAAGGATGCTCTCCGGGCGCTCAACTTTGCGTACACGGTGAGCACACAGCGATCTACCATCTTTCCCCTGGATGGTGTGGTGCGCATGCTGCTGTTCAGAGACTGTGAAGAGGCCACCGACTTCCTCACCTGCCACGGCCTCACCGTTTCCGACGG___CTGTGTGGAGCTGAACCGGTCTGCATTCCTGGAACCAGAGGGATTATCCAAGACCAGGAAGTCGGTGTTTATTACTAGGAAGCTGACGGTGTCAGTCGGGGAAATTGTGAACGGAGGGCCATTGCCCCCCGTCCCTCGTCATACCCCTGTGTGCAGCTTCAACTCCCAGAACAAGTACATCGGGGAGAGCCTGGCCGCGGAGCTGCCCGTCAGCACCCAGAGACCCGGCTCCGACACAGTGG___GCGGAGGGAGAGGAGAGGAGTGTGGTGTAGAGCCGGATGCACCCCTGTCCAGTCTCCCACAGTCTCTACCAGCCCCTGCGCCCTCACCAGTGCCTCTGCCTCCTGTCCTGGCACTGACCCCGTCTGTGGCGCCCAGCCTCTTCCAGCTGTCTGTGCAGCCTGAACCACCGCCTCCAGAGCCCGTGCCCATGTACTCTGACGAG___GACCTGGCGCAGGTGGTGGACGAGCTCATCCAGGAGGCCCTGCAGAGGGACTGTGAGGAAGTTGGCTCTGCGGGTGCTGCCTACGCAGCTGCCGCCCTGGG___TGTTTCTAATGCTGCTATGGAGGATTTGTTAACAGCTGCAACCACGGGCATTTTGAGGCACATTGCAGCTGAAGAAGTGTCTAAGGAAAGAGAGCGAAGGGAGCAGGAGAGGCAGCGGGCTGAAGAGGAAAG___GTTGAAACAAGAGAGAGAGCTGGTGTTAAGTGAGCTGAGCCAGGGCCTGGCCGTGGAGCTGATGGAACGCGTGATGATGGAGTTTGTGAGGGAAACCTGCTCCCAGGAGTTGAA___GAATGCAGTAGAGACAGACCAGAGGGTCCGTGTGGCCCGTTGCTGTGAGGATGTCTGTGCCCACTTAGTGGACTTGTTTCTCGTGGAGGAAATCTTCCAGACTGCAAAGGAGACCCTCCAGGAGCTTCAGTGCTTCTGCAAGTATCTACAGCG___GTGGAGGGAAGCTGTCACAGCCCGCAAGAAACTGAGGCGCCAAATGCGGGCTTTCCCTGCTGCGCCCTGCTGCGTGGACGTGAGCGACCGGCTGAGGGCGCTGGCGCCCAGCGCAGAGTGCCCCATTGCTGAAGAGAACCTGGCCAGGGGCCTCCTGGACCTGGGCCATGCAGGGAGATTGGGCATCTCCTGCACCAG___GTTAAGGCGGCTCAGAAACAAGACAGCTCACCAGATGAAGGTTCAGCACTTCTACCAGCAGCTGCTGAG___TGATGTGGCATGGGCGTCTCTGGACCTGCCATCCCTCGTGGCTGAGCACCTCCCTGGGAGGCAGGAGCATGTGTTTTGGAAGCTGGTGCTGGTGTTGCCGGATGTAGAGGAGCAGTCCCCAGAGAGTTGTGGCAG___AATTCTAGCAAATTGGTTAAAAGTCAAGTTCATGGGAGATGAAGGCTCAGTGGATGACACATCCAGCGATGCTGGTGGGATTCAGACGCTTTCGCTTTTCAACTCACTTAGCAGCAAAGGGGATCAGATGATTTCTGTTAACGTGTGTATAAAG___GTGGCCCATGGCGCCCTCAGTGATGGTGCCATTGATGCTGTGGAGACACAGAAGGACCTCCTGGGAGCCAGTGGGCTCATGCTGCTGCTTCCCCCCAAAATGAAGAGTGAGGACATGGCAGAGGAGGACGTGTACTGGCTGTCGGCCTTGCTGCAGCTCAAGCAGCTCCTGCAGGCTAAGCCCTTCCAGCCTGCGCTTCCTCTGGTGGTTCTTGTGCCTAGCCCAGGAGGGGACGCCGTTGAGAAGGAAGTAGAAGATG___GTCTGATGCTACAGGACTTGGTTTCAGCTAAGCTGATTTCAGATTACACTGTTACCGAGATCCCTGATACCATTAATGATCTACAAGGTTCAACTAAG___GTTTTGCAAGCAGTGCAGTGGCTGGTTTCCCACTGCCCCCATTCCCTTGACCTCTGCTGCCAGACTCTCATTCAGTACGTCGAAGACGGGATTGGCCATGAGTTTAGTGGCCGCTTTTTCCATGACAGAAGAGAGAGGCGTCTGGGCGGTCTTGCTTCTCAGGAGCCTGGCGCCATCATTGAGCTGTTTAACAGTGTGCTGCAGTTCCTGGCTTCTGTGGTGTCCTCTGAACAGCTGTGTGACCTGTCCTGGCCTGTCACTGAGTTTGCTGAGGCAGGGGGCAGCCGGCTGCTTCCTCACCTGCACTGGAATGCCCCAGAGCACCTGGCCTGGCTGAAGCAGGCTGTGCTCGGGTTCCAGCTTCCGCAGATGGACCTTCCACCCCTGGGGG___CCCCCTGGCTCCCCGTGTGCTCCATGGTTGTCCAGTACGCCTCCCAGATCCCCAGCTCACGCCAGACACAGCCTGTCCTCCAGTCCCAGGTGGAGAACCTGCTCCACAGAACCTACTGTAGGTGGAAGAGCAAGAGTCCCTCCCCAGTCCATGGGGCAGGCCCCTCGGTCATGGAGATCCCATGGGATGATCTTATCGCCTTGTGTATCAACCACAAG)CTGAGAGACTGGACGCCCCCCCGGCTTCCTGTTACATCAG___AGGCGCTGAGTGAAGATGGTCAGATATGTGTGTATTTTTTTAAAAACGATTTGAAAAAATATGATGTTCCTTTGTCGTGGGAACAAGCCAGGTTGCAGACGCAGAAGGAGCTACAGCTGAGAGAGGGACG|GGAGGCATTTGCCCAGGAAGGCTGTGCCTGTGGCAGAGACTCATGGCTCCGGCCTATAACAAGGGCCATGTACATCTTGCAGCCTGGTGGAGGCCGTGGAACACCATCCTGCAGTTCTGGGTCCCCTGACAACTGAATGTAGCACCCAC MNPTNPFSGQQPSAFSASSSNVGTLPSKPPFRFGQPSLFGQNSTLSGKSSGFSQVSSFPASSGVSHSSSVQTLGFTQTSSVGPFSGLEHTSTFVATSGPSSSSVLGNTGFSFKSPTSVGAFPSTSAFGQEAGEIVNSGFGKTEFSFKPLENAVFKPILGAESEPEKTQSQIASGFFTFSHPISSAPGGLAPFSFPQVTSSSATTSNFTFSKPVSSNNSLSAFTPALSNQNVEEEKRGPKSIFGSSNNSFSSFPVSSAVLGEPFQASKAGVRQGCEEAVSQVEPLPSLMKGLKRKEDQDRSPRRHGHEPAEDSDPLSRGDHPPDKRPVRLNRPRGGTLFGRTIQDVFKSNKEVGRLGNKEAKKETGFVESAESDHMAIPGGNQSVLAPSRIPGVNKEEETESREKKEDSLRGTPARQSNRSESTDSLGGLSPSEVTAIQCKNIPDYLNDRTILENHFGKIAKVQRIFTRRSKKLAVVHFFDHASAALARKKGKSLHKDMAIFWHRKKISPNKKPFSLKEKKPGDGEVSPSTEDAPFQHSPLGKAAGRTGASSLLNKSSPVKKPSLLKAHQFEGDSFDSASEGSEGLGPCVLSLSTLIGTVAETSKEKYRLLDQRDRIMRQARVKRTDLDKARTFVGTCLDMCPEKERYMRETRSQLSVFEVVPGTDQVDHAAAVKEYSRSSADQEEPLPHELRPLPVLSRTMDYLVTQIMDQKEGSLRDWYDFVWNRTRGIRKDITQQHLCDPLTVSLIEKCTRFHIHCAHFMCEEPMSSFDAKINNENMTKCLQSLKEMYQDLRNKGVFCASEAEFQGYNVLLSLNKGDILREVQQFHPAVRNSSEVKFAVQAFAALNSNNFVRFFKLVQSASYLNACLLHCYFSQIRKDALRALNFAYTVSTQRSTIFPLDGVVRMLLFRDCEEATDFLTCHGLTVSDGCVELNRSAFLEPEGLSKTRKSVFITRKLTVSVGEIVNGGPLPPVPRHTPVCSFNSQNKYIGESLAAELPVSTQRPGSDTVGGGRGEECGVEPDAPLSSLPQSLPAPAPSPVPLPPVLALTPSVAPSLFQLSVQPEPPPPEPVPMYSDEDLAQVVDELIQEALQRDCEEVGSAGAAYAAAALGVSNAAMEDLLTAATTGILRHIAAEEVSKERERREQERQRAEEERLKQERELVLSELSQGLAVELMERVMMEFVRETCSQELKNAVETDQRVRVARCCEDVCAHLVDLFLVEEIFQTAKETLQELQCFCKYLQRWREAVTARKKLRRQMRAFPAAPCCVDVSDRLRALAPSAECPIAEENLARGLLDLGHAGRLGISCTRLRRLRNKTAHQMKVQHFYQQLLSDVAWASLDLPSLVAEHLPGRQEHVFWKLVLVLPDVEEQSPESCGRILANWLKVKFMGDEGSVDDTSSDAGGIQTLSLFNSLSSKGDQMISVNVCIKVAHGALSDGAIDAVETQKDLLGASGLMLLLPPKMKSEDMAEEDVYWLSALLQLKQLLQAKPFQPALPLVVLVPSPGGDAVEKEVEDGLMLQDLVSAKLISDYTVTEIPDTINDLQGSTKVLQAVQWLVSHCPHSLDLCCQTLIQYVEDGIGHEFSGRFFHDRRERRLGGLASQEPGAIIELFNSVLQFLASVVSSEQLCDLSWPVTEFAEAGGSRLLPHLHWNAPEHLAWLKQAVLGFQLPQMDLPPLGAPWLPVCSMVVQYASQIPSSRQTQPVLQSQVENLLHRTYCRWKSKSPSPVHGAGPSVMEIPWDDLIALCINHKLRDWTPPRLPVTSEALSEDGQICVYFFKNDLKKYDVPLSWEQARLQTQKELQLREGr|eafaqegcacgrdswlrpitramyilqpgggrgtpscssgspdn* 05BR042 ENSG00000185009.12 ENSG00000111859.17 -/- -/+ chr10:74150755 chr6:11320386 5'UTR/splice-site intron translocation/5'-5' 1 2 0 37 2 high . . . . . ENSG00000185009.12 ENSG00000111859.17 ENST00000355264.8 . upstream upstream duplicates(1) ^(GGGACCCCAGACTGCGTTAGGCAGCAGATGACCGCCTGAATCTAGATGGAGAGAAACCCACCATTTTTCTAGGCCCTGGATTATGTAGAAGATTTAGATACTAAGCCTCAAGAGACGTCTTTCCTCTCATTTACGGTCTTCCTGCATA)TTTAAAATTTCTAATACGGTAGACAGAGTCGGTGTCTTTGAAGCTGTTAATCAGGCAATTTCCTGGGCACTCCAGCTGCGGGTCCTCGCGGCCTTCTCGGCTTCTCCAGCTTCGGTAGGAGAGGATCCGGCGCCGAATCACTGACTGGCACAGGTGTTGGG|GAAAGCCTCAGGAACTTGTTGCAATAGGGACTGCCAGGTCCCGTTGCACTATTGGTGGAAGAGAGGTCCACACGGTGCCTACGATAAGCGATTTGTTCGTATCTATCCAGACTGCAGGTGCATACAGCCACTCATCCTCAAATGCCATCCTCAGGAGTTTATGCTGCACACAGACTGGCACATGTGCAGGAAGACATAGTGCAGGGCTACGTGCTACAACATTGTTG . 05BR042 ENSG00000174579.4 ENSG00000240086.7(118215),ENSG00000242222.1(367788) -/- ./- chr3:136194972 chr3:135558103 CDS/splice-site intergenic deletion 2 1 0 109 10 high out-of-frame . zinc_RING_finger_of_MSL2(100%)| . . ENSG00000174579.4 . ENST00000309993.3 . upstream downstream . ^(GCGCATGCGTGCGAGCGCTAGCGACGACGGCGGCGGGGGAGTCTCGGGGATGACAGTGGCTTTGCCCGTTGGGGTAACGGTCGTCGTCGCCGCCAGCAGAGGCCTGAGGCGCCACACAGCCCGCGGGATCCATTAAGGCCGCAGCAGCCCGGGCCCTACCGAGCTGGAGTGGCGCGTGGAGTCGGGGTGAGGGCGGCGAGGCACGGGGGAGGGGCCTGCGGCGGGGCCTTGCTGTGTGCGCTGGGCGGCGGCGGGGCCTGGCGGTGTGAGCGCTTGCCTTCCGCGGCCGGGGAGTGCTGAGGGCGGCGGCGGCCGTCGTGCTCGGCGGAGGAGTCGTCTGTGTGTGTGGCGCCGAAAAAATGGCCGGGCAGTGAGGGGGCGGCGCTTGAGTCTGGTGACCCCGGAGTGTGCGACTGAGGCGCGAGGGGCGCCGCCGCGGCCCGGCCGGGCTTGCCCCCCGCCCCCTCCCGCCCGCCGGCGGCGGCCCGCGCACTTCCTCCCCGGCCTTCCCCTCCGGGTTGAGGACTCCCGCCCGCCTCGCCACCTCGGGGAACTGCGGGCTGCAACCCACGGGGCGGAGAGCCAGGGCGCAGTCTGGGCCCCGCGTCCGATATGGAGAGCGCGGCGGCGGCGTCCGCCAGCCGCAACATCAACCTTCGTCGCCGCCGCGGCGTCTTGCACTAGATCCGGGAAGCCGCTGCCCGACCGTCGTCCTTGCCGTCGCCGCCGCCTCCGCGCCCTGTACTGGGATGGAGTAAGAGGCCCTGCAGCCCGGGAGAAGCGTGCCGCGCCTCAGACGGGGCCGGGGCCTGCTCCCGCGCCTGCCAGCTCGACTTGAGGAGGCGCCTCCGTGTCCGGAGATGGAGCTCGAGTGCAGGCCGCCTGCCGAGCCGCGGGGCTAGACTGAGCTCCGAGTCCCGCCCCGAGCGCCCAAGCCGCCGCGTTCTGCGCTCTGTGGTCGCTCCGGACGAACTCGAACGCTGGTTTCTCTCTCATATTTTTGGTCTGGAAGTCTCAGGGACGGAGGGGCGCCAAGGCCCCATGTGTGGGAGGATTGTTTCAGCTCCACAAACTTGCACGGATTTTGGTTACTTGTTTGGCCAATGGTTCGGCTCTGATTTCTTCCGAATTGTTGCAAATTCGCCATCGTTCCCTGGCTGCTTACTAAGTTGGATCCGGAATTTCTTTTCAACCGGGAGCCATTGGTGTCGA)AGTGTCTGCAATGAACCCCGTGAATGCTACTGCTCTCTACATTTCCGCGAGCCGCCTAGTGCTCAACTACGACCCCGGAGACCCCAAGGCGTTTACTGAGATTAACAGGCTCTTGCCTTACTTCCGACAGTCCCTTTCGTGCTGTGTTTGCG|GCCTTTAGAACTGGACTGGAATTGTACTTTCCTGGGTCTCCAGCTTGCAGATGGCAGATTGTGGAACTTCTCAGCCTGCATAATCGT___TCCCGACCCTGCATTCCAGAAACCTAGAAATTCACAGAAGACTTGTCTGTG___ACCTGGAGGCAAAGGTATGGATG MNPVNATALYISASRLVLNYDPGDPKAFTEINRLLPYFRQSLSCCVC|gl* 05BR042 ENSG00000127603.29 ENSG00000174574.16 +/+ +/+ chr1:39105717 chr1:38998171 intron CDS/splice-site duplication 1 2 0 29 139 high . . . . . ENSG00000127603.29 ENSG00000174574.16 . ENST00000432648.8 downstream upstream . GGCTCGGCGAGAAGGCGGTGCGGGCGGCCATGGCCGGCTACGTGCCGGGTCAGCAGCCGGCCAACCGCAGCCAGGAGAAGGAGTTCGTGCAGGCGTACGAGGATGTGCTGGAGCGGTACAAAG|AGCAAATTTTTCAGAACATAAAACAAGAATATAGTCGTTATCAGAGGTGGAGACATTTAGAAGTTGTTCTTAATCAGAGTGAAGCTTGTGCTTCGGAAAGTCAACCTCACTCCTCAGCACTCACAGCACCTAGCTCTCCAG(___GTTCCTCATGGATGAAGAAGGACCAGCCCACATTTACCCTCCGACAAGTTGGCATAATATGTGAGCGCCTCTTAAAAGACTATGAAGATAAAATTCGGGAGGAGTATGAGCAAATCCTCAATACCAAACTAGCAG___AACAATATGAATCTTTTGTGAAATTCACACATGATCAGATTATGCGACGGTATGGGACAAGGCCAACAAGCT___ATGTGTCATGAAGCTTTGTCACATATCTGGGTACCAGGTTTGACCTCAAGAGATGGCTGCTGTACACTTTTTGCAACTGGTTTGATGTCACATTTCAGCTCCAACTTTGCATCCTGAGAACACTTAAACGTTTCTGCAGGTCCATTTTATACAACTTGAAAGACCGTAAAACTTTCTGGTTGCCACAAGCATATCTTTCTTTTCTGCTCATCCAATAAACAGCTGTGCCCTACTGTGATAGATTTTCCAAACAAAAATACCTGGAGCAGCAGTTTAGCAAAATATGCCTTCAGTGGCATTCAACAAATGGAGTTTCCCCAAGCACAGTTCTGTAAGAAGTGCGTGTGAGAGTGTGTGTATATGTGTGTATGTGTATTTTAAGTTATTATTTGTATTGTGCAAAAATTTTTTTTTGATCTTGGGGATTCTGGCTGTGAATTTGGTGCACGACAATTATGGTAAAAAAACATTTGCTTGGTCTAAAGAAGATCATTAATGTTTTGTGACCATACAAGTTGTAACAGTGGATTGTTTTTATGTGTAGGTATTGTTAAATACAGGGACTGTTTCCAGGCACAGAATATGAATCGTAAGTTAGGATGGACATTAGATGTGATTATGATGATAAAGCGAAGGTCTGCGGTCCTATATCTACAGACACGTGGTGAGAAATTAGAACAAACTGGAGACGGGCCATTGACACATGGACTCTGCCTGGGCATGTTAGGTTAATTCTTTGACTCCAAGCCTTAAAATACTCACATGGAGTCAGCGCTCACCTCATTCACACAATTATCATAGAGCTCCCTGGACACTGAACCTCTAAAGGGAAAAGGTCTACCCTGGAGCCAGGAGCATCAGGGTTGGCTTGGGAGCATGAGAGGTGAGCCCAGGGCTAGGCCTGGGCCAGGCCCCGGCAGCACTGCTACTTGGGAGGAGCCACTTCACCTTTGTATTAGTTATTAAAAAATATAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCATGCGGATCACTTGAGGTCAGGAGTTCGAGACCACCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAACAAAGTTAGCCGGGCGTGGTGGCAGGCGTCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGCGGTTGCAGTGAGCACAGATCATGCCACTGCACTCCAGCCTGGGCAACAAAACGAGACTTCGTCTCAAAAAAAAAAAAAAAACATAGAATTTGGATCCTTTGGTCGGGTTCTCCCAAATTCTTTTGAGGTGTCCATGGTCAACTGCTTCAGCTTTGTTTTGGCAACCCCCTGCCCGAAGTCGCATATAGGCTGTTCTTCACCTTGTTTCCAAGGCTGAGGAACAGAAAGTAGCCTCTGTTTTGAGGAGGTGGAAGTTAAGTATACATTTATTTTTTACTGTGACTTGTTCAGGACCACATTTTACAAAATGCCTTGTTTCCTTCATTGTTTCTGGAAAGGAAAGTTCTATTAATATTGTTTTACTTTGAATATAGAATAGTTTTTTTAATTAGGGCTTATTTTGAAAAATTCTGAGTTTAATTCAAATGTATGCCAATACCTTCCAAAGTAAGGTAATATTCAGAGACAGTTGTTGTGATCAGATGGCTTAGAGAAATTTCTGGAATATTCACATTCGAAGATTCCTTATTAATGAATGTCTTTGACTTAAATCTAACCAAAAACTGCAACATTATTCTTTGTACATTTTCATTATATAGTGTTAACAAGCTTAGTTGCAAACAAATAAAATACTTAAGCTATTTGTTTACCTTGCCTTCTTAATACTGTGATAATGTTTATTAATTCAAATAACTTATGTGAGAGCTGCTATAACCATTTCCCCAGTTCAACATTGCATTGAAAATTTATGGACCTTTAAAAAAAAAAGCCCAACAGTGATTTTTTTTTAATAATTAAAGAATGATTTTACTTTGTA)$ . 05BR042 ENSG00000183020.14 ENSG00000177600.9 +/+ +/+ chr11:926088 chr11:811597 CDS/splice-site CDS/splice-site duplication 5 29 0 89 14585 medium out-of-frame . . . . ENSG00000183020.14 ENSG00000177600.9 ENST00000332231.9 ENST00000321153.9 downstream upstream duplicates(5) ^(GCTCGCGTGCGTGCGCGTGCGTGCTGGTGCGGGCGCCGTACGTGCGCGCGCGCGGCGGCCCAGAAAGCGGCGCTGGGACCCTGAGGCGGCCGTG)GTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCCGCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTGGCGGTCTTCATCTCGGATATCCGCAACT|GTTATCAGTGAGCTGAATGGAAAAAACATTGAAGACGTCATTGCCCAGG___GTATTGGCAAGCTTGCCAGTGTACCTGCTGGTGGGGCTGTAGCCGTCTCTGCTGCCCCAGGCTCTGCAGCCCCTGCTGCTGGTTCTGCCCCTGCTGCAG___CAGAGGAGAAGAAAGATGAGAAGAAGGAGGAGTCTGAAGAGTCAGATGATGACATGGGAT(TTGGCCTTTTTGATTAAATTCCTGCTCCCCTGCAAATAAAGCCTTTTTACACATCTC)$ MPAVSKGDGMRGLAVFISDIRN|cyq* 05BR042 ENSG00000284194.3 ENSG00000215386.13 -/- +/+ chr22:50525997 chr21:16132651 intron intron translocation 7 18 0 277 63 medium . . . . . ENSG00000284194.3 ENSG00000215386.13 ENST00000535425.5 . upstream upstream duplicates(5) ^GCAGGCACCGTGGAGCTGGTCCGGGCGCTGCCGCTGGCGCTGGTGCTGCACGAGCTCGGGGCCGGGCGCAGCCGCGCTGGGGAGCCGCTCCGCCTGGGGGTGGGCGCAGAGCTGCTGGTCGACGTGGGTCAGAGGCTGCGCCGTGGTGA|TTTCTCCCAGTCAGGAGGCATGGGGGTCAGGGACCCGCTTGAGGACACAGTCTGTCCCTTAGCCGAGCTTGAGCACCGTGCTGGGAGATCCTGCTGGGAGCCAGCAGGCAGGAACGTTTAAGTCTGCTGAAGCTTCACCCACAGCTGCCCCTTCCCCCAGGTGCTCTGCCCCAGGGAGATGGGAGTTTTATCTATAAGCCCCTGATTGGGGCTGCTGCCTTTCTTTCAGAGATGCCCTGCCTAGAGAGGAGGAATCTAGAAAGGCAGTCTGGCTACAGCGGCTTTCCCAAGCTGCCATGGGCTCTGCCCAGTTCGAACTTCCCTGAGGCTTTGTATCCACGGTGAGGGGAAAACCGCCTACTCAAGCCTCAGTAATGGCAGA . 05BR042 ENSG00000025708.14 ENSG00000215386.13 -/- +/+ chr22:50525997 chr21:16132651 intron intron translocation 7 18 0 277 63 medium out-of-frame . Glycosyl_transferase_family__a/b_domain(100%),Glycosyl_transferase_family__helical_bundle_domain(100%),Pyrimidine_nucleoside_phosphorylase_C-terminal_domain(100%)| . . ENSG00000025708.14 ENSG00000215386.13 ENST00000395681.6 . upstream upstream duplicates(5) ^(AGTGGACCGCTGTGCGCGAACCCTGAACCCTACGGTCCCGACCCGCGGGCGAGGCCGGGTACCTGGGCTGGGATCCGGAGCAAGCGGGCGAGGGCAGCGCCCTAAGCAG___GCCCGGAGCGATGGCAGCCTTGATGACCCCGGGAACCGGGGCCCCACCCGCGCCTGGTGACTTCTCCGGGGAAGGGAGCCAGGGACTTCCCGACCCTTCGCCAGAGCCCAAGCAGCTCCCGGAGCTGATCCGCATGAAGCGAGACGGAGGCCGCCTGAGCGAAGCGGACATCAGGGGCTTCGTGGCCGCTGTGGTGAATGGGAGCGCGCAGGGCGCACAGATCG___GGGCCATGCTGATGGCCATCCGACTTCGGGGCATGGATCTGGAGGAGACCTCGGTGCTGACCCAGGCCCTGGCTCAGTCGGGACAGCAGCTGGAGTGGCCAGAGGCCTGGCGCCAGCAGCTTGTGGACAAGCATTCCACAGGGGGTGTGGGTGACAAGGTCAGCCTGGTCCTCGCACCTGCCCTGGCGGCATGTGGCTGCAAG___GTGCCAATGATCAGCGGACGTGGTCTGGGGCACACAGGAGGCACCTTGGATAAGCTGGAGTCTATTCCTGGATTCAATGTCATCCAGAGCCCAGAGCAG___ATGCAAGTGCTGCTGGACCAGGCGGGCTGCTGTATCGTGGGTCAGAGTGAGCAGCTGGTTCCTGCGGACGGAATCCTATATGCAGCCAGAGATGTGACAGCCACCGTGGACAGCCTGCCACTCATCACAG___CCTCCATTCTCAGTAAGAAACTCGTGGAGGGGCTGTCCGCTCTGGTGGTGGACGTTAAGTTCGGAGGGGCCGCCGTCTTCCCCAACCAGGAGCAGGCCCGGGAGCTGGCAAAGACGCTG___GTTGGCGTGGGAGCCAGCCTAGGGCTTCGGGTCGCGGCAGCGCTGACCGCCATGGACAAGCCCCTGGGTCGCTGCGTGGGCCACGCCCTGGAGGTGGAGGAGGCGCTGCTCTGCATGGACGGCGCAGGCCCGCCAGACTTAAGGGACCTGGTCACCACGCTCG___GGGGCGCCCTGCTCTGGCTCAGCGGACACGCGGGGACTCAGGCCCAGGGCGCTGCCCGGGTGGCCGCGGCGCTGGACGACGGCTCGGCCCTTGGCCGCTTCGAGCGGATGCTGGCGGCGCAGGGCGTGGATCCCGGTCTGGCCCGAGCCCTGTGCTCGGGAAGTCCCGCAGAACGCCGGCAGCTGCTGCCTCGCGCCCGGGAGCAGGAGGAGCTGCTGGCGCCCGCAGATG___)CCCCTCTCCCCGCAGGCACCGTGGAGCTGGTCCGGGCGCTGCCGCTGGCGCTGGTGCTGCACGAGCTCGGGGCCGGGCGCAGCCGCGCTGGGGAGCCGCTCCGCCTGGGGGTGGGCGCAGAGCTGCTGGTCGACGTGGGTCAGAGGCTGCGCCGTGGTGA|TTTCTCCCAGTCAGGAGGCATGGGGGTCAGGGACCCGCTTGAGGACACAGTCTGTCCCTTAGCCGAGCTTGAGCACCGTGCTGGGAGATCCTGCTGGGAGCCAGCAGGCAGGAACGTTTAAGTCTGCTGAAGCTTCACCCACAGCTGCCCCTTCCCCCAGGTGCTCTGCCCCAGGGAGATGGGAGTTTTATCTATAAGCCCCTGATTGGGGCTGCTGCCTTTCTTTCAGAGATGCCCTGCCTAGAGAGGAGGAATCTAGAAAGGCAGTCTGGCTACAGCGGCTTTCCCAAGCTGCCATGGGCTCTGCCCAGTTCGAACTTCCCTGAGGCTTTGTATCCACGGTGAGGGGAAAACCGCCTACTCAAGCCTCAGTAATGGCAGA MAALMTPGTGAPPAPGDFSGEGSQGLPDPSPEPKQLPELIRMKRDGGRLSEADIRGFVAAVVNGSAQGAQIGAMLMAIRLRGMDLEETSVLTQALAQSGQQLEWPEAWRQQLVDKHSTGGVGDKVSLVLAPALAACGCKVPMISGRGLGHTGGTLDKLESIPGFNVIQSPEQMQVLLDQAGCCIVGQSEQLVPADGILYAARDVTATVDSLPLITASILSKKLVEGLSALVVDVKFGGAAVFPNQEQARELAKTLVGVGASLGLRVAAALTAMDKPLGRCVGHALEVEEALLCMDGAGPPDLRDLVTTLGGALLWLSGHAGTQAQGAARVAAALDDGSALGRFERMLAAQGVDPGLARALCSGSPAERRQLLPRAREQEELLAPADAPLPAGTVELVRALPLALVLHELGAGRSRAGEPLRLGVGAELLVDVGQRLRRgd|fsqsggmgvrdpledtvcplaelehragrscwepagrnv* 05BR042 ENSG00000237296.9 ENSG00000243716.10 +/+ +/+ chr16:22491825 chr16:22513520 exon 5'UTR deletion/read-through 2 9 1 52 251 medium . . |Nuclear_pore_complex_interacting_protein_(NPIP)(100%) . . ENSG00000237296.9 ENSG00000243716.10 ENST00000309865.11 ENST00000517539.5 downstream upstream duplicates(3),inconsistently_clipped(1),multimappers(6) ^(ATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCGGCGGCGGCGGCACCAACGGCACCAACTATTCGCGGAGCTGGAATGACTGGCAACCCAG___AACTGATAGTGCATCAGCCGACCCAGGTAATTTAAAATATTCTTCATCCAGAGATAGAGGTGGTTCTTCCTCTTACGGACTGCAACCTTCAAATTCAGCTGTGGTGTCTCGGCAAAGGCACGATGATACCAGAGTCCACGCTGACATACAGAATGACGAAAAGG___GTGGCTACGGTGTCAATGGGGGATCTGGGGAAAATACTTATGGTCGGAAGTCATTGGGGCAAGAGCTGAGGGTTAACAATGTGACCAGCCCTGAGTTCACCAGTGTTCAGCATGGCAGTTGTGCTTTAGCCACCAAAGACATGAGGAAATCACAGG___AGAGATCGATGTCTTATTGTGATGAGTCTCGACTGTCATATCTTCTTCGGAGGATCACCCGGGAAAACGACCGAGACCGAAGATTGGCTACTGTAAAGCAGTTGAAAGAATTTATTCAGCAACCAGAAAATAAGCTG___GTACTAGTTAAACAATTGGATATCTTGGCTGCTGTACATGATGTGCTTAATGAAAG___TAGCAAATTGCTTCAGGAGTTGAGACAGGAGGGAGCTTGCTGTCTCGGCCTTCTTTGTGCTTCTCTGAGCTATGAGGCTGAGAAGATCTTCAAGTGGATTTTTAGCAAATTTAGCTCATCTGCAAAAGATGAAGTTAAACTCCTCTACTTATGTGCCACCTACAAAGCACTAGAGACTGTAGGAGAAAAGAAAGCCTTTTCATCTGTAATGCAG___CTTGTAATGACCAGCCTGCAGTCAATTCTTGAAAATGTGGATACACCAGAATTGCTTTGCAAATGTGTTAAGTGCATTCTTTTGGTGGCTCGATGTTACCCTCATATTTTCAGCACTAATTTTAGG___GATACAGTTGGTATATTAGTTGGATGGCATAGAGATCATACTCAGAAACCTTCGCTCACGCAGCAGGTATCTG___GGTGGTTGCAGAGTTTGGAGCCATTTTGGGTAGCTGATCTTGCATTTTCTACGCCTCTACTTGGTCAGTTTCTAGAAGACATGGAAGCATATGCTGAG___GACCTCAGCCATGTGGCCGCTGGGGAATCAGTGGATGAAGACGTCCCTCCTCCATCAGTGTCATTACCAAAGCTGGCTGCGCTTCTCCGGGTATTTAGTACTGTGGTGAGGAGCACTGGGGAAAGCCTCAGCCCAATTCGGGCCCTCCAATTACTGAGGCATACGTAACAGAT___GTTCTGTACAGAGTAATGAGATGTGTGACGGCTGCAAACCAGGTGTTTTTTTCTGAGGCTGTGTTGACAGCTGCTAATGAGCGTGTTGGTGTTTTGCTCGGCAGCTTGGATCCTAGCATGACTATACATTGTGACATGGTCATTACATATGGATTAGACCAACTGGAGAATTGCCAGACTTGTGGTACCGATTATATCATCTCAGTCTTGAATTTACTCACGCTG___ATTGTTGAACAGATAAATACGAAACTGCCATCATCATTTGTAGAAAAACTGTTTATACCATCATCTAAACTACTATTCTTGCGTTATCATAAAGAAAAAGAG___GTTGTTGCTGTAGCCCGTGCTGTTTATCAAGCAGTGCTCAGCTTGAAGAATATTCCTGTTTTGGAGACTGCCTATAAGTTAATATTGGGAGAAATGACTTGTGCCCTAAACAACCTCCTGCACAGTCTGCAGCTTCCTGAGTCCTGTTCTGAAATAAAACATGAGGCTTTTAAGAATCATGTGTTCAATGTAGACAATGCAAAATTTGTAGTTAAATTTGACCTCAGTGCCCTGACTACAATTGGAAATGCCAAAAACTCACTAATAGGG___ATGTGGGCGCTATCTCCAACTGTCTTTGCACTTCTGAGTAAGAATCTGATGATTGTGCACAGTGACCTGGCTGTTCACTTCCCTGCCATTCAGTATGCTGTGCTCTACACATTGTATCCTCATTGTACCAG___GCATGATCACTTTATCTTTAGTAGCCTCAGTTCTTCCTCTCCTTCTTTGTTTGATGGAGCTGTGATTGGCACTGTAACTATGGCCACAAAGAAACATTTCTCAATTATATTAAATCTTCTGGGAATGTTACTTAAGAAAGATAACCAGGACACGAG___GAAACTGTTAATGACTTGGGCTTTGGAAGTAGCTGTTGTAATGAAGAAGTCCGAAACATATGCACCTTTATTCTGTCTTCCGTCTTTCCATAAATTTTGCAAAGGCCTTTTAGCCGACA___CTCTCGTTGAAGATGTGAATATCTGTCTGCAGGCATGCAGCAGTCTACATGCTCTATCCTCTTCCTTGCCAGATGATCTTTTACAGAG___ATGTGTTGATGTTTGCCGTGTCCAACTAGTGCACCGTGGAACTTGTATTCGACAAGCATTTGGAAAACTGTTGAAATCAATTCCTTTAGGTGTTTTCCTAAG___CGATAACAATCACACAGAAATTCAAGAAATTTCTTTAGCATTAAGAAGTCACATGAGTAAAGCACCAAGTAATACATTCCACCCCCAAGATTTCTCTGATGTTATTAGTTTTATTTTGTATGGGAACTCTCATAGAACAGG___GAAGGACAATTGGTTGGAAAGACTGTTCTATAGCTGCCAGAGACTGGATAAGCGTGACCAGTCAACAATTCCACGCAATCTCCTGAAGACAGATGCTATCCTTTGGCAGTGGGCCATATGGGAAGCTGCACAATTCACTGTTCTTTCTAAGCTGAGAACCCCACTGGGCAGAGCTCAAGACACCTTCCAGACAATTGAAG___GTATCATTCGAAGTCTCGCAGGTCACACATTAAACCCTGATCAGGATGTTAGTCAGTGGACAACTGCAGACAGTGATGAAGGCCATGGTAACAACCAACTTAGACTTGTTCTTCTTCTGCAGTATCTGGAAAATCTGGAGAAATTAATGTATAATGCATACGAGGGATGTGCTAATGCCTTAACTTCACCTCCCAAG___GTCATTAGAACTTTTTTGTATACCAATCGCCAAACTTGTCAGGACTGGCTAACGCGGATTCGACTCTCCATCATGAGGGTAGGATTGTTGGCAGGCCAGCCTGCAGTGACAGTGAGACATGGCTTTGACTTGCTTACAGAGATGAAAACAACCAGCCTATCTCAG___GGGAATGAATTGGAAGTAAGCATTATGATGGTGGTAGAAGCACTATGTGAACTTCATTGTCCTGAAGCTATACAGGGAATTGCTGTCTGGTCATCATCTATTGTTGGAAAACATCTTCTGTGGATTAACTCAGTGGCTCAACAGGCTGAAGGGAG___GTTTGAAAAGGCCTCTGTGGAGTACCAGGAACACCTGTGTGCCATGACAGGTGTTGATTGCTGCATCTCCAGCTTTGACAAATCGGTGCTCACCTTAGCCAGTGCTGGGTGTAAGAGTGCCAGCCTGAAACATTGTCTGAATG___GTGAATCCAGAAAAAGTGTGCTGTCCAAACCGACTGACTCTTCCCCTGAGGTTATAAATTATTTAGGAAACAAAGCATGTGAGTGCTACATCTCAACTGCCGATTGGGCTGCTGTGCAGGAATGGCAGAACGCTATCCATGACTTGAAAAAGAGTACCAGTAGCACTTCCCTCAACCTGAAAGCTGACTTCAACTATATAAA___ATCATTAAGCAGCTTTGAGTCTGGAAAATTTGTCGAATGTACCGAGCAATTAGAATTGTTACCAGGAGAAAATATCAATCTACTTGCTGGAGGATCAAAAGAAAAAATAG___ACATGAAAAAACTGCTTCGTAACATGTGAAGTCCAGATCCAAGGGAACCTCAGAAATCCATTGAAGTTCCATTGTTAAGAAGTTCTGTTTGTTTGGCAACTGCTTTAAACC)CGATAGAACAAGATCAGAAGTGGCAGTCTATAACTGA___AAATGTGGTAAAGTACTTGAAGCAAACATCCCGCATCGCTATTGGACCTCTGAGACTTTCTACTTTAACAGTTTCACAGTCTTTGCCAGTTCTAAGTACCTTGCAGCTGTATTGCTCGTCTGCTTTGGAGACCACAGTTTCTAACAGACTTTCAACAGAG___GACTGTCTTATTCCACTCTTCGGCGAAGCTTTACGTTCATGTAAACAGCATGACGTGAGGCCGTGGATGCAGGCATTAAGGTATACTGTGTACCAGAATCAGTTGTTGGAGAAAATTAA|AGGTATGATCTCGTGAAATCTTGAGAGAAACTGAATGACGAATGAAACTATTGTTCCTGTTTCACACAGAAGAAAACTGAGGTTAAAAGGG(___GTTGGCACTCATCATGAGCCCCTGTTCTCATTCTGCAAATGGTGAAGCTCTCTATTGTCCTGACCCCACAGTTCCTGTCCCATGACCAGGGCCAGCTCACCAAGGAGCTGCAGCAGCATGTAAAGTCAGTGACATGCCCATGCGAGTACCTGAGGAAG___GTTATCAATACTCTGGCTGACCATCATCATCGTGGGACTGACTTTGGTGGAAGTCCTTGGTTACATGTCATTATTGCGTTTCCGACAAGTTATAAAGTTGTCATTACCCTCTGGATAGTTTACCTTTGG___GTGTCTCTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATGGATCCACGGATGTACAGCAGAGAGCCTGGAGGTCCAACCGCCGTAGACAGGAAG___GGCTGAGGTCCATTTGTATGCACACAAAGAAAAGAGTTTCTTCCTTTCGAGGAAATAAAATTGGCCTGAAAGACGTCATTACTCTACGGAGACATGTGGAAACAAAAGTTAGAGCTAAAATCCGTAAGAGGAAGGTGACAACGAAAATCAACCATCATGACAAAATCAATGGAAAGAGGAAGACCGCCAGAAAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGCGGCGAGCAGAGGACTACCACAAATGCAAA___ATCCCCCCTTCTGCAAGAAAGGCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCACCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTGTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTGTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCTGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCTACCCTCAGCTCCACCCTCAGCGGATGATAATCTCAAGACACGTGCCGAGTGTCTGCTCCATCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCTGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTGCCCTTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCTTCCACCCTCAGCGGATGATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGATACCTGCTGAGCGTCTGCGGATTCCGCTTCCACCATCAGCCGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTGAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCAGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCAGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCTTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCCGATGATAATCTCAAGACACCTCCCTTAGCTACTCAGGAGGCTGAGGCAGAAAAACCACGCAAACCCAAGAGGCAGAGGGCGGCTGAGATGGAACCACCTCCCGAACCCAAGAGGCGGAGGGTCGGTGACGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATCACCCGAACCCAAGAGGCGGAGGGTCGGTGATGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATCACCCGAACCCAAGAGGCGGAGGGTCGGTGACGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATTACCCGAACCCAAGAGGCGGAGGTTGAGCTGAGAAGAGGCCAGTGCACTCAAGCCTGAGCAATAAGAATAAAACCGAGTAGAACAAAATAAAAAATTCAAAAAACAAAACAAAACCCACACTCC)$ . 05BR042 ENSG00000126261.13 ENSG00000126261.13 +/+ +/- chr19:34460566 chr19:34459223 CDS/splice-site intron inversion/3'-3' 1 10 0 877 33 medium out-of-frame . ThiF_family(100%),Ubiquitin-activating_enzyme_active_site_(100%),Ubiquitin/SUMO-activating_enzyme_ubiquitin-like_domain(100%)| . . ENSG00000126261.13 ENSG00000126261.13 ENST00000246548.9 . downstream downstream mismatches(1) ^(GCGGCTCGGTTCTCCCGCCTCCGCCTCCGCCGCGGCTCGTGGTTGTCCCGCCATGGCACTGTCGCGGGGGCTGCCCCGGGAGCTGGCTGAGGCGGTGGCCGGGGGCCGGGTGCTGGTGGTGGGGGCGGGCGGCATCGGCTGCGAGCTCCTCAAGAATCTCGTGCTCACCGGTTTCTCCCACATCGACCTG___ATTGATCTGGATACTATTGATGTAAGCAACCTCAACAGACAGTTTTTGTTTCAAAAGAAACATGTTGGAAGATCAAAGGCACAG___GTTGCCAAGGAAAGTGTACTGCAGTTTTACCCGAAAGCTAATATCGTTGCCTACCATGACAGCATCATGAA___CCCTGACTATAATGTGGAATTTTTCCGACAGTTTATACTGGTTATGAATGCTTTAGATAACAGAG___CTGCCCGAAACCATGTTAATAGAATGTGCCTGGCAGCTGATGTTCCTCTTATTGAAAGTGGAACAGCTGGGTATCTTGGACAAGTAACTACTATCAAAAAG___GGTGTGACCGAGTGTTATGAGTGTCATCCTAAGCCGACCCAGAGAACCTTTCCTGGCTGTACAATTCGTAACACACCTTCAGAACCTATACATTGCATCGTTTGGGCAAAGTACTTGTTCAA___CCAGTTGTTTGGGGAAGAAGATGCTGATCAAGAAGTATCTCCTGACAGAGCTGACCCTGAAGCTGCCT___GGGAACCAACGGAAGCCGAAGCCAGAGCTAGAGCATCTAATGAAGATGGTGACATTAAACGTATTTCTACTAAGGAATGGGCTAAATCAACTGGATATGATCCAGTTAAACTTTTTACCAAG___CTTTTTAAAGATGACATCAGGTATCTGTTGACAATGGACAAACTATGGCGGAAAAGGAAACCTCCAGTTCCGTTGGACTGGGCTGAAGTACAAAGTCAAG___GAGAAGAAACGAATGCATCAGATCAACAGAATGAACCCCAGTTAGGCCTGAAAGACCAGCAGGTTCTAGATGTAAAGAGCTATGCACGTCTTTTTTCAAAGAGCATCGAGACTTTGAGAGTTCATTTAGCAGAAAAGGGGGATGGAGCTGAGCTCATATGGGATAAG___GATGACCCATCTGCAATGGATTTTGTCACCTCTGCTGCAAACCTCAGGATGCATATTTTCAGTATGAATATGAAGAGTAGATTTGATATCAAAT___CAATGGCAGGGAACATTATTCCTGCTATTGCTACTACTAATGCAGTAATTGCTGGGT)TGATAGTATTGGAAGGATTGAAGATTTTATCAGGAAAAATAGACCAGTGCAGAACA___ATAGTGAAAGAAAAATTTGCTATGGTAGCACCAGATGTCCAAATTGAAGATGGGAAAGGAACAATCCTAATATCTTCCGAAGAGGGAGAGACGGAAG|AATTTACCCACTGCCTGGGAAGCAAAGAGCAAAGAAGTCCTCTGCTTGCTGTGATACTGTGCCACCACTGTGCTGCAGATTCCAGTCAAATACTCCTACTCCATTCTGGGAATGTGAGGCACTTATTCTGGAACCACAGACAGAAAAGCCTGCAGGAATCCAGAAGGCAAAATAACCCAGGAAATCACAGCCACACATCTCTGCAGTTGGAC MALSRGLPRELAEAVAGGRVLVVGAGGIGCELLKNLVLTGFSHIDLIDLDTIDVSNLNRQFLFQKKHVGRSKAQVAKESVLQFYPKANIVAYHDSIMNPDYNVEFFRQFILVMNALDNRAARNHVNRMCLAADVPLIESGTAGYLGQVTTIKKGVTECYECHPKPTQRTFPGCTIRNTPSEPIHCIVWAKYLFNQLFGEEDADQEVSPDRADPEAAWEPTEAEARARASNEDGDIKRISTKEWAKSTGYDPVKLFTKLFKDDIRYLLTMDKLWRKRKPPVPLDWAEVQSQGEETNASDQQNEPQLGLKDQQVLDVKSYARLFSKSIETLRVHLAEKGDGAELIWDKDDPSAMDFVTSAANLRMHIFSMNMKSRFDIKSMAGNIIPAIATTNAVIAGLIVLEGLKILSGKIDQCRTIVKEKFAMVAPDVQIEDGKGTILISSEEGETE|efthclgskeqrspllavilchhcaadssqilllhsgnvrhlfwnhrqkslqesrrqnnpgnhshtslql 05BR042 ENSG00000165637.13 ENSG00000285810.1 +/+ +/+ chr10:75222402 chr10:75041872 CDS/splice-site exon duplication 0 7 0 838 72 medium out-of-frame . Eukaryotic_porin(100%)| . . ENSG00000165637.13 ENSG00000285810.1 ENST00000543351.5 ENST00000649504.1 downstream upstream duplicates(1) ^(GGCAGTCCCAAAAAGCCTCTCAGGCACACAACCCAGCACAGCAAGGCAGTCACACCAAG___ATTCCCCTCTTCCCGCGGCCTCGCCATGGCGACCCACGGACAGACTTGCGCGCGTC___CAATGTGTATTCCTCCATCATATGCTGACCTTGGCAAAGCTGCCAGAGATATTTTCAACAAAGGATTTG___GTTTTGGGTTGGTGAAACTGGATGTGAAAACAAAGTCTTGCAGTGGCGTG___GAATTTTCAACGTCCGGTTCATCTAATACAGACACTGGTAAAGTTACTGGGACCTTGGAGACCAAATACAAGTGGTGTGAGTATGGTCTGACTTTCACAGAAAAGTGGAACACTGATAACACTCTGGGAACAGAAATCGCAATTGAAGACCAG___ATTTGTCAAGGTTTGAAACTGACATTTGATACTACCTTCTCACCAAACACAGG___AAAGAAAAGTGGTAAAATCAAGTCTTCTTACAAGAGGGAGTGTATAAACCTTGGTTGTGATGTTGACTTTGATTTTGCTGGACCTGCAATCCATGGTTCAGCTGTCTTTGGTTATGAGGGCTGGCTTGCTGGCTACCAGATGACCTTTGACAGTGCCAAATCAAAGCTGACAAGGAATAACTTTGCAGTGGGCTACAGGACTGGGGACTTCCAGCTACACACTAATGT___CAATGATGGGACAGAATTTGGAGGATCAATTTATCAGAAAGTTTGTGAAGATC)TTGACACTTCAGTAAACCTTGCTTGGACATCAGGTACCAACTGCACTCGTTTTGGCATTGCAGCTAAATATCAGTTGGATCCCACTGCTTCCATTTCT|GCCTAAGCTTCAACTTGAGAGCCTGATTCTTTCTGGATTTGGCAGTGGGGGCAGACCCTAAAATTGAGTGCCAGGAACCTACAACAAGCTTTCAT___GCGAAGAAGCTGAAAGTCACAAAGCCTGAGTGACTTGCCCAAGGCCACACAGAAACCAGTGTTCAGTCCAGACACTGTGGACCCAGAGCAGATGCTTGGC(CGCTCCACCTATCTCCACAAAAAGGAGCAAGGAAAAGAGTGAGCTTCATCTTAGAG___GCTGGCAAGATCTCAAATCAGGGCTGCTCTATCACCCTGGGTCCTAGAGTAAAGTGGCCGGGAGCGCAGCAGAGCTGGCCCACCATGGACTGCATTGTGAGTGAGAAAGAATCATTGCTGTGGCCGGCCACCAAGATGTTGGG___CTCCAAGCAAGGTGTCCAGTAAAGGGTTACTGGCTGACTGAATGAATGAATGAACTCTCTGAGCTGTGACTTGTCCATTTGTAAAATGGGAATAATATTTGTAAAATGGTTCCTCCTTTATAGGGTTGTTGAGGAGTCTAAATGATGCCTAGCACAAGGCATGACACCTACCACCTAAGAATTCAATACAACTTAACTATTATTATTATAAGCCATAGGAAAGGTAAATACAGTATATAATATACAGAGAAAAAGCTTACTTCTCACTATGGGGATTGGAGGAAGCTAGCTTCATGGCAGAAGTGACTTGAATGGACTTTGAAGAATGCATAGGATCTGGACTTGGACATGAGGTGCAGGGAAAGACATTTTAGACAAAGGGAACAGCATGGATAAAGATACAGAGACAGTTTAAGTCTTAAAATCTTAATCTTTCCTCAGTTGTACCATTTCTAGGGTCAGATCTAAGGAAATAATTCTAAATATAGAAAAAACATTATGTGTAAAGATGTCCACTGCAGTGTTGTTTATAAAAGTGAAAACATAAAAATAACTGATATGCCCAACAATAAGGAAGTAGTTAAATGAATGCTCTTCTGTTCATCTGATATATTGTCATGTCTATTATAATTAAATATATAAGAAGTAATAAAAGAAAATGTTTATGAATGATGCTATGTGAGAAATAAGAGAAAATGAATAATCATTATAGTTACAATTATATAAAAACAAATTCCAAAACCAAAAGTAATATTCGGAAAGTCTAGGAGGAAATATACCACAATATTAATAGGAGTATCTTTGAAGTAATGGCCTTTGGTGACTGCTTTGGGATATTGAAAGCAATCTTTCTTACATTTATCATTTTTTTATTATCATAGCTAAACTTTACTGAGCACTTCCTATGTACTAGGCAGTGCACTATTTTACACACATTACCCAACTTAATCCATACAGCCCTGTGAGGAAGGTTATCTTATTAGCCTCTTACCAATAGGGAAACCGAGACTTCTCTATTTACACAATGAGCATATGTTACTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGACTAGAGTGCAGTGGCACCATTACAGCTCACTGTAGCCATGACCTCCTGGACTCAAGTGATCCGCCCACCTCAGCCCCCCAAGTAGCTGGGACTATAGGTACATGCCACCAAGCCCAGAAAATTTTTAAAAATTTTTGGTAGAGATGGTGTCTTGCTATATTGCTCAGGCTACTTGCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTTACAGGGTTACAGGGGTGAGCCATCATGCCCGGCCTATTACTTTCATTATAGGAAATATTTACTACATTTATTTAATATTTTGTTATTAAAAGACTAGAGATGTCAGTCCCTCCTTTTTTTTTTTGCTACTTCAAACAGTGTTATAATAAGCATCGCTGCACATATTTTCTCATTATTGCTACTCTTATTTCTGTAAATTACATTTCTTAAAGTGATATTTTGGGTCAAAATATATGTGTGCCTTTTTTATTCTGAACTAATTTTAGACTTACAGAAACGTGCAAATATCACACAGAGATTGGCAATAAAAAGGAATCAAATACTGATACAAGTACAATTTGGATGAACCTGGAAAACATTATACAAAGTAAAAGAAAGCCAGGAACATATTATAACATTCCATTTATACAGAATGTCTGGGAATCAGTAAATCTATAAAAACAGAAAGTAGATTGGTGGTTGCCAGGGCCTGAGAGGCAGGTAGGGAATGGGGAGTGACTGTTTAGTGGGTTCAGGGTTTCCTTTTGAGGTGACAAAAATATTCTGAAATTAGAGAGTGGTGATGTTTGCACAACTCTGTAAATATAACAAAAGCTCTGAATTGTATACTTTAAAAGGGTGAACTTTATGGTCTATGAATTATTTCT)$ MATHGQTCARPMCIPPSYADLGKAARDIFNKGFGFGLVKLDVKTKSCSGVEFSTSGSSNTDTGKVTGTLETKYKWCEYGLTFTEKWNTDNTLGTEIAIEDQICQGLKLTFDTTFSPNTGKKSGKIKSSYKRECINLGCDVDFDFAGPAIHGSAVFGYEGWLAGYQMTFDSAKSKLTRNNFAVGYRTGDFQLHTNVNDGTEFGGSIYQKVCEDLDTSVNLAWTSGTNCTRFGIAAKYQLDPTASIS|a* 05BR042 ENSG00000008441.16 ENSG00000179218.14 +/+ +/+ chr19:13025552 chr19:12939134 CDS/splice-site CDS/splice-site duplication 5 1 0 492 3800 medium in-frame . MH1_domain(100%),Nuclear_factor_I_protein_pre-N-terminus(100%)|Calreticulin_family(100%) . . ENSG00000008441.16 ENSG00000179218.14 ENST00000397661.6 ENST00000316448.10 downstream upstream . ^(GCGAGCGCGGCGGCGGCGGCGGCAGCGGCGGCCCCGGAGCCGGCGGGGCCGAGCTTGCGAGCGGCGAGCGCGGAGCGGCGCCGGGCCGAGCGCGGGGCCGCGGGCCGGGCGGGCGCAGCGCGGCGGAGGCCGGAGGAGCCGAGCCGGAGCCCGAGCCCGAGCGCGGCCGCCGCCTGCCGGGCCTCCCCTCGCCGCGGCCGGCCGCCGCGCTCCCGCCCGGGCGCCCAGCTATGTACTCCCCGTACTGCCTCACCCAG___GATGAGTTCCACCCGTTCATCGAGGCACTGCTGCCTCACGTCCGCGCTTTCTCCTACACCTGGTTCAACCTGCAGGCGCGGAAGCGCAAGTACTTCAAGAAGCATGAAAAGCGGATGTCGAAGGACGAGGAGCGGGCGGTGAAGGACGAGCTGCTGGGCGAGAAGCCCGAGATCAAGCAGAAGTGGGCATCCCGGCTGCTGGCCAAGCTGCGCAAGGACATCCGGCCCGAGTTCCGCGAGGACTTCGTGCTGACCATCACGGGCAAGA)AGCCCCCCTGCTGCGTGCTCTCCAACCCCGACCAGAAGGGCAAGATCCGGCGGATTGACTGCCTGCGCCAGGCTGACAAGGTGTGGCGGCTGGACCTGGTCATGGTGATTTTGTTTAAGGGGATCCCCCTGGAAAGTACTGATGGGGAGCGGCTCTACAAGTCGCCTCAGTGCTCGAACCCCGGCCTGTGCGTCCAGCCACATCACATTGGAGTCACAATCAAAGAACTGGATCTTTATCTGGCTTACTTTGTCCACACTCCGG|ACGGGTGGACTTCCCGCTGGATCGAATCCAAACACAAGTCAGATTTTGGCAAATTCGTTCTCAGTTCCGGCAAGTTCTACGGTGACGAGGAGAAAGATAAAG___GTTTGCAGACAAGCCAGGATGCACGCTTTTATGCTCTGTCGGCCAGTTTCGAGCCTTTCAGCAACAAAGGCCAGACGCTGGTGGTGCAGTTCACGGTGAAACATGAGCAGAACATCGACTGTGGG(GGCGGCTATGTGAAGCTGTTTCCTAATAGTTTGGACCAGACAGACATGCACGGAGACTCAGAATACAACATCATGTTTG___GTCCCGACATCTGTGGCCCTGGCACCAAGAAGGTTCATGTCATCTTCAACTACAAGGGCAAGAACGTGCTGATCAACAAGGACATCCGTTGCAAG___GATGATGAGTTTACACACCTGTACACACTGATTGTGCGGCCAGACAACACCTATGAGGTGAAGATTGACAACAGCCAGGTGGAGTCCGGCTCCTTGGAAGACGATTGGGACTTCCTGCCACCCAAGAAGATAAAGGATCCTGATGCTTCAAAACCGGAAGACTGGGATGAGCGGGCCAAGATCGATGATCCCACAGACTCCAAGCCTGAG___GACTGGGACAAGCCCGAGCATATCCCTGACCCTGATGCTAAGAAGCCCGAGGACTGGGATGAAGAGATGGACGGAGAGTGGGAACCCCCAGTGATTCAGAACCCTGAGTACAAG___GGTGAGTGGAAGCCCCGGCAGATCGACAACCCAGATTACAAGGGCACTTGGATCCACCCAGAAATTGACAACCCCGAGTATTCTCCCGATCCCAGTATCTATGCCTATGATAACTTTGGCGTGCTGGGCCTGGACCTCTGGCAG___GTCAAGTCTGGCACCATCTTTGACAACTTCCTCATCACCAACGATGAGGCATACGCTGAGGAGTTTGGCAACGAGACGTGGGGCGTAACAAAG___GCAGCAGAGAAACAAATGAAGGACAAACAGGACGAGGAGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGACAAGGAGGATGATGAGGACAAAGATGAGGATGAGGAGGATGAGGAGGACAAGGAGGAAGATGAGGAGGAAGATGTCCCCGGCCAGGCCAAGGACGAGCTGTAGAGAGGCCTGCCTCCAGGGCTGGACTGAGGCCTGAGCGCTCCTGCCGCAGAGCTGGCCGCGCCAAATAATGTCTCTGTGAGACTCGAGAACTTTCATTTTTTTCCAGGCTGGTTCGGATTTGGGGTGGATTTTGGTTTTGTTCCCCTCCTCCACTCTCCCCCACCCCCTCCCCGCCCTTTTTTTTTTTTTTTTTTAAACTGGTATTTTATCTTTGATTCTCCTTCAGCCCTCACCCCTGGTTCTCATCTTTCTTGATCAACATCTTTTCTTGCCTCTGTCCCCTTCTCTCATCTCTTAGCTCCCCTCCAACCTGGGGGGCAGTGGTGTGGAGAAGCCACAGGCCTGAGATTTCATCTGCTCTCCTTCCTGGAGCCCAGAGGAGGGCAGCAGAAGGGGGTGGTGTCTCCAACCCCCCAGCACTGAGGAAGAACGGGGCTCTTCTCATTTCACCCCTCCCTTTCTCCCCTGCCCCCAGGACTGGGCCACTTCTGGGTGGGGCAGTGGGTCCCAGATTGGCTCACACTGAGAATGTAAGAACTACAAACAAAATTTCTATTAAATTAAATTTTGTGTCTC)$ MYSPYCLTQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRKDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTP|dGWTSRWIESKHKSDFGKFVLSSGKFYGDEEKDKGLQTSQDARFYALSASFEPFSNKGQTLVVQFTVKHEQNIDCGGGYVKLFPNSLDQTDMHGDSEYNIMFGPDICGPGTKKVHVIFNYKGKNVLINKDIRCKDDEFTHLYTLIVRPDNTYEVKIDNSQVESGSLEDDWDFLPPKKIKDPDASKPEDWDERAKIDDPTDSKPEDWDKPEHIPDPDAKKPEDWDEEMDGEWEPPVIQNPEYKGEWKPRQIDNPDYKGTWIHPEIDNPEYSPDPSIYAYDNFGVLGLDLWQVKSGTIFDNFLITNDEAYAEEFGNETWGVTKAAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDKEDDEDKDEDEEDEEDKEEDEEEDVPGQAKDEL* 05BR042 ENSG00000285567.2 ENSG00000127580.17 +/+ -/- chr16:5143146 chr16:687676 intron CDS inversion 3 2 0 6 18 medium . . |WD_domain__G-beta_repeat(100%) . . ENSG00000285567.2 ENSG00000127580.17 . ENST00000293883.9 downstream downstream duplicates(2) CTCTCTGTCTTAGGGAGTCTCTCCCAGAAGGGCTGTTGTGCCAGGGGGATTGGACTCTGCCGGCTTTGTTTCCTGCTTAGGACCACCAAGCTCGTGGTACCCCCAGGACTCTTGGAATCCTGTCTAGGCAGCTTGGAGGGCTGTCTACGTG|CCTTTGAGAACGGCAATGTGCAGCTCTGGGACATCCGGCGTCCCGACCGGTGCGAGAGGATGTTCACAGCCCACAACGGACCCGTCTTCTGCTGCGACTGGCACCCCGAGGACAG(___GGGCTGGTTGGCCACTGGAGGGCGCGACAAGATGGTGAAGGTCTGGGACATGACCACGCACCGTGCCAAGGAGATGCACTGTGTGCAGACCATCGCCTCGGTGGCCCGTGTGAAGTGGCGGCCAGAGTGCCGCCACCACCTGGCCACGTGCTCCATGATGGTGGACCACAACATCTATGTTTGGGACGTGCGCCGGCCCTTCGTGCCAGCTGCCATGTTTGAGGAACACCGAGACGTCACCACGGGAATTGCCTGGCGCCACCCCCACGACCCCTCCTTCCTGCTGTCTGGCTCCAAGGACAGCTCGCTGTGCCAGCACCTGTTCCGCGACGCCAGCCAGCCCGTCGAGCGCGCCAACCCTGAGGGCCTCTGCTACGGCCTCTTCGGGGACCTGGCCTTCGCCGCCAAGGAGAGCCTCGTGGCTGCCGAGTCGGGGCGCAAGCCCTACACTGGCGACCGGCGCCACCCCATCTTCTTTAAGCGCAAGCTGGACCCTGCCGAGCCCTTCGCAGGCCTCGCCTCCAGTGCCCTCAGTGTCTTTGAGACGGAGCCAGGTGGCGGCGGCATGCGCTGGTTTGTGGACACAGCTGAGCGTTATGCGCTGGCTGGCCGGCCACTGGCCGAGCTCTGTGACCACAACGCAAAGGTGGCTCGAGAGCTTGGCCGCAACCAG___GTGGCGCAAACGTGGACCATGCTGCGGATCATCTACTGCAGCCCTGGCCTAGTGCCCACTGCAAACCTCAACCACAGTGTGGGCAAGGGTGGCTCCTGTGGCCTCCCGCTCATGAACAG___TTTCAACCTGAAGGATATGGCCCCAGGGTTGGGCAGTGAGACGCGGCTGGACCGCAGCAAAGGAGATGCACGGAGCGACACAGTTCTGCTCGACTCCTCGGCCACACTCATCACCAATGAGG___ATAACGAGGAAACCGAGGGCAGCGACGTACCTGCCGACTACCTGCTGGGTGACGTGGAAGGTGAGGAGGACGAGCTGTACCTGCTGGATCCGGAACACGCGCACC___CCGAGGACCCTGAGTGCGTGCTGCCGCAGGAGGCCTTTCCGCTGCGCCACGAGATCGTGGACACGCCTCCCGGGCCCGAGCACCTGCAGGACAAGGCCGACTCCCCGCACGTGAGCGGCAGCGAGGCGGATGTGGCCTCCCTGGCCCCCGTGGACTCCTCCTTCTCGCTCCTGTCTGTCTCACACGCGCTCTACGACAGCCGCCTGCCGCCCGACTTCTTCGGCGTGCTGGTGCGCGACATGCTGCACTTCTACGCTGAGCAGGGCGACGTGCAGATGGCTGTGTCTGTGCTCATCGTCCTGGGTGAACGGGTGCGCAAGGACATCGACGAGCAGACCCAG___GAGCACTGGTACACTTCCTACATCGACCTGCTGCAGCGCTTCCGCCTCTGGAACGTGTCCAACGAGGTGGTCAAGCTGAGCACCAGCCGCGCCGTCAGCTGCCTCAACCAGGCCTCCACCACCCTGCACGTCAACTGCAGCCACTGCAAGCGGCCCATGAGCAGCCGGGGCTGGGTCTGCGACAG___GTGCCACCGCTGCGCCAGCATGTGTGCCGTCTGCCACCACGTAGTCAAGGGTCTCTTCGTGTGGTGCCAGGGCTGCAGCCACGGCGGCCACCTGCAGCACATCATGAAGTGGCTGGAAGGCAGCTCCCACTGTCCCGCAGGCTGCGGCCACCTCTGCGAGTACTCCTGACGGGGCATCTGCTGGGCTTGCCCGGGCGGCCGCGTGCAGAACCCCGCCTGGTCTTGTGCCCGAGACGGGCGGAGGCTGGAACTTGAGACCTCAATAAAGGAAGTAGAGCCGC)$ . 05BR042 ENSG00000273963.1 ENSG00000127580.17 -/+ -/- chr16:5143146 chr16:687676 intron CDS inversion/3'-3' 3 2 0 6 18 medium . . |WD_domain__G-beta_repeat(100%) . . ENSG00000273963.1 ENSG00000127580.17 . ENST00000293883.9 downstream downstream duplicates(2) CTCTCTGTCTTAGGGAGTCTCTCCCAGAAGGGCTGTTGTGCCAGGGGGATTGGACTCTGCCGGCTTTGTTTCCTGCTTAGGACCACCAAGCTCGTGGTACCCCCAGGACTCTTGGAATCCTGTCTAGGCAGCTTGGAGGGCTGTCTACGTG|CCTTTGAGAACGGCAATGTGCAGCTCTGGGACATCCGGCGTCCCGACCGGTGCGAGAGGATGTTCACAGCCCACAACGGACCCGTCTTCTGCTGCGACTGGCACCCCGAGGACAG(___GGGCTGGTTGGCCACTGGAGGGCGCGACAAGATGGTGAAGGTCTGGGACATGACCACGCACCGTGCCAAGGAGATGCACTGTGTGCAGACCATCGCCTCGGTGGCCCGTGTGAAGTGGCGGCCAGAGTGCCGCCACCACCTGGCCACGTGCTCCATGATGGTGGACCACAACATCTATGTTTGGGACGTGCGCCGGCCCTTCGTGCCAGCTGCCATGTTTGAGGAACACCGAGACGTCACCACGGGAATTGCCTGGCGCCACCCCCACGACCCCTCCTTCCTGCTGTCTGGCTCCAAGGACAGCTCGCTGTGCCAGCACCTGTTCCGCGACGCCAGCCAGCCCGTCGAGCGCGCCAACCCTGAGGGCCTCTGCTACGGCCTCTTCGGGGACCTGGCCTTCGCCGCCAAGGAGAGCCTCGTGGCTGCCGAGTCGGGGCGCAAGCCCTACACTGGCGACCGGCGCCACCCCATCTTCTTTAAGCGCAAGCTGGACCCTGCCGAGCCCTTCGCAGGCCTCGCCTCCAGTGCCCTCAGTGTCTTTGAGACGGAGCCAGGTGGCGGCGGCATGCGCTGGTTTGTGGACACAGCTGAGCGTTATGCGCTGGCTGGCCGGCCACTGGCCGAGCTCTGTGACCACAACGCAAAGGTGGCTCGAGAGCTTGGCCGCAACCAG___GTGGCGCAAACGTGGACCATGCTGCGGATCATCTACTGCAGCCCTGGCCTAGTGCCCACTGCAAACCTCAACCACAGTGTGGGCAAGGGTGGCTCCTGTGGCCTCCCGCTCATGAACAG___TTTCAACCTGAAGGATATGGCCCCAGGGTTGGGCAGTGAGACGCGGCTGGACCGCAGCAAAGGAGATGCACGGAGCGACACAGTTCTGCTCGACTCCTCGGCCACACTCATCACCAATGAGG___ATAACGAGGAAACCGAGGGCAGCGACGTACCTGCCGACTACCTGCTGGGTGACGTGGAAGGTGAGGAGGACGAGCTGTACCTGCTGGATCCGGAACACGCGCACC___CCGAGGACCCTGAGTGCGTGCTGCCGCAGGAGGCCTTTCCGCTGCGCCACGAGATCGTGGACACGCCTCCCGGGCCCGAGCACCTGCAGGACAAGGCCGACTCCCCGCACGTGAGCGGCAGCGAGGCGGATGTGGCCTCCCTGGCCCCCGTGGACTCCTCCTTCTCGCTCCTGTCTGTCTCACACGCGCTCTACGACAGCCGCCTGCCGCCCGACTTCTTCGGCGTGCTGGTGCGCGACATGCTGCACTTCTACGCTGAGCAGGGCGACGTGCAGATGGCTGTGTCTGTGCTCATCGTCCTGGGTGAACGGGTGCGCAAGGACATCGACGAGCAGACCCAG___GAGCACTGGTACACTTCCTACATCGACCTGCTGCAGCGCTTCCGCCTCTGGAACGTGTCCAACGAGGTGGTCAAGCTGAGCACCAGCCGCGCCGTCAGCTGCCTCAACCAGGCCTCCACCACCCTGCACGTCAACTGCAGCCACTGCAAGCGGCCCATGAGCAGCCGGGGCTGGGTCTGCGACAG___GTGCCACCGCTGCGCCAGCATGTGTGCCGTCTGCCACCACGTAGTCAAGGGTCTCTTCGTGTGGTGCCAGGGCTGCAGCCACGGCGGCCACCTGCAGCACATCATGAAGTGGCTGGAAGGCAGCTCCCACTGTCCCGCAGGCTGCGGCCACCTCTGCGAGTACTCCTGACGGGGCATCTGCTGGGCTTGCCCGGGCGGCCGCGTGCAGAACCCCGCCTGGTCTTGTGCCCGAGACGGGCGGAGGCTGGAACTTGAGACCTCAATAAAGGAAGTAGAGCCGC)$ . 05BR042 ENSG00000156170.13 ENSG00000164941.14 +/+ +/+ chr8:95044595 chr8:94851553 intron CDS/splice-site duplication 5 0 0 12 224 medium stop-codon . Squalene/phytoene_synthase(100%)| . . ENSG00000156170.13 ENSG00000164941.14 ENST00000396113.5 ENST00000523731.6 downstream upstream . ^(CGCCTGGCCAAGTGCGGCTCTGCTCTCCCCAGTCCCGGTCCGCGACCACCCGGAGCCCGCTCCGCCGGCCTTGCGCGGCGCGCCCAGGGAAGGCATTTCCAGCCCGCCCACCCAG___GACTGTTCTAGAAAAAGTCTTAAAGGCCTACCCTCCTACTGATGACCCAGAGACTGTCCCTGCCCAGTCACTGCTACTGTTGACCTTGGCTCCTGCCCAGGGATGGAGGCTCTCAACTGGGCTGGTTCTACATGGAG___GTCTCTTCTTCGGCCTTTCTGACATGGTGCCAGCCCTACTGGAGTCAGCAGGAGTCCAGCACAACAGATGGTGGTCAGTGGTGACTTCGGCACAGGCAGTTCGTGAGGAGTGGTTGGTGGCCATGGAGTCCTGACTGGAGTAGGTTAAAAAGAAGGAGGAAAATCACAAGAAAGAGAGACTGGAG___GTGGAGGTTGGGGAGAAAAGAGATAATGGTATGGTGAGATGTCTACTGAACTGCTCCTGCCAAGGCCCCTCCCCATGTACTCTCAACGAAAGTTGCAG___CCACCCATTCTCATTTTGTGGATATAATTCCCTGCTTTAGTTTTCTGAGCACAAGAAATCAACTTTGGCTGCACATTGGAATATCTGAGAAGCTTAAAAATACTGATGTTTGGACCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAG___CCACCTCTCAACAACCCATGAAGTGTCTGGAGCTCCACCCTCTGCTCAAGAGGAACGGCACATGACCCAGGCCTATGCCAATCAGCATTTCACATTCCTCATGGTTGGTTCAAAG___TGAAGCAACTTTCCCAGAAGCACCACAGTGGACTTGTTCTCAAGTCTAATTGGCCAGATCAGGGAAATATGCACTGTCCTGGACCAGTCACTGGTGATGAAAGGGTAACACCCACCACCGGGGTTCTGCTACTACACAGGATGAAGAAAG___GAAACGGGATTATGAAGGTTATTTATGCTCCCTGCTGCTCCCTGCAGAATCCCGAAGCTCTGTTTTTGCACTGAGGGCCTTTAATGTGGAACTGGCTCAGGCTG___GTTAAAGACTCAGTCTCTGAGAAAACAATTGGACTGATGCGAATGCAGTTTTGGAAAAAAACTGTGGAAGATATA)TACTGTGACAATCCACCACATCAGCCTGTGGCCATTGAACTATGGAAG___GCTGTTAAAAGACATAATCTGACTAAAAGATGGCTTATGAAAATCGTCGATGAAAGA___AGTCTCACTCTTGTCGCCCAGGCTGGAGTACAATGGCACGACCTTGGCTCACTACAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCtGAGTAGCTGGGATTACAG|CTTCAGCAAGTGTCAACATTGGTCAGTTAGAGCATCAACTTATATTGTCAG(TGGATCCTTGGAGGATTAGACAAATTTTAATTGAATTACATGGTATGACTTCAGAGCGCCAGTTCTGGACAGTGTCTAATAAG___TGGGAAGTACCTTCTGTCTATAGTGGTGTTATCCTGGGAATTAAAGACAATTTAACAAGAGATTTGGTTTATATTCTTATGGCCAAAGGTTTGCACTGCAGTACTGTTAAG___GACTTTTCCCATGCTAAACAGCTCTTTGCTGCTTGTTTGGAGTTGGTAACAGAGTTCTCACCGAAGCTTCGTCAGGTCATGCTGAATGAGATGTTGCTTTTGGATATTCATACACACGAAGCTGGGACAGGGCAGGCAGGAGAGAGACCGCCATCCGACCTTATAAGTAGAGTACGAGGCTATCTGGAAATGAGGCTTCCTG___ATATTCCTCTTCGTCAAGTTATAGCTGAGGAATGTGTTGCCTTTATGTTAAACTGGAGAGAAAATGAATACCTTACACTCCAAGTTCCTGCATTTTTGCTTCAGAGTAATCCATATGTAAAG___CTTGGACAGCTTTTAGCAGCTACATGCAAAGAACTTCCAGGCCCTAAAGAAAGTAGACGGACTGCCAAAGACCTTTGGGAAGTTGTTGTTCAAATCTGTAGTGTGTCCAGTCAGCACAAACGAGGAAATGATGGCAGAGTTAGTTTAATAAAACAGAGGGAATCTACGTTAGGTATCATGTATCG___GAGTGAACTGCTTTCTTTTATCAAAAAATTACGA___GAACCACTCGTTTTGACTATTATTTTATCACTCTTTGTGAAACTTCACAATGTTCGG___GAGGACATTGTGAATGATATTACAGCTGAACACATTTCTATTTGGCCATCTTCCATTCCCAA___CCTCCAGTCTGTGGACTTTGAAGCTGTGGCAATCACAGTGAAAGAGCTAGTTCGATATACACTCAGTATAAATCCAAATAACCATTCTTGGTTAATTATCCAGGCAGATATTTACTTTG___CAACGAATCAGTATTCAGCAGCTCTTCACTATTACCTCCAGGCAGGAGCTGTGTGTTCTGACTTCTTTAACAAGGCTGTGCCCCCTGATGTTTATACAGACCAG___GTAATAAAACGAATGATAAAATGTTGTTCTTTGCTGAATTGCCACACACAG___GTGGCCATTTTATGTCAGTTCCTCAGAGAAATTGACTACAAAACAGCGTTTAAATCTCTGCAAGAACAAAACAG___TCATGATGCTATGGACTCCTACTACGACTACATATGGGATGTTACCATTTTGGAATACTTGACTT___ATCTTCATCATAAAAGAGGAGAAACAGATAAAAGACAAATTGCA___ATCAAAGCCATCGGCCAGACAGAGTTGAATGCAAGCAATCCAGAAGAAGTGTTACAGCTGGCAGCGCAGAGAAGGAAAAAAAAGTTTCTCCAAGCAATGGCAAAACTTTACTTTTAAGCAGTTAAATTTTTTTAACTTTTATTTTTTAAACAATGGGCTAAAAATAAACAGTATTAAAAGGTTAAGTTTATATAATACATATGTACACAATTAGTGGTGTTTTCTTTTCAGACAAAATACTGAAACAAATATTAGTTTAAAAACAAACTATACAGAAGACTTCATACCGTAACAATAAATGTATAGTTTCTTCAAAGGGAGAAGAGATTCACATATCTGATAACAAAATAAACTAGCAATCTAGTTTTCTAATCTACTTTATGAGGCTGGATTTTTTTTTTAGAAAAGCTAATTTAAAATATTTAGAAATAGCTAGCCTATGTACAGCAAGTTTTCATGTCTTTTTTTAATAAATAGATTTCTAGGAGTCAGTATATATTTAATACTCTTCTTCCTTAAGAAAATAGAAGTTTAGGTCAAGTGTTAAGCTTTATCACTTTGACACTGTCCTTATCTCACAATGGAGGAATTTAGAAAGGACCTTAACAGTTTCACAAACATAAATAAAGCCTTAGTCACACTAAATTAAAAAAAAAAATTCCTTAGGGATATCTTAGAGTAGTAAAGTGACTTCCTCATATAAATAGTTTGAAAGGGTACTTAAGTTTTTCACCCAAATTGTGATATACAAAAAGGTTATTACCAAGCAACCTACATGTCAAGAAAGCCCCAGTTAGGAAGGAGCCACAGCATTTATCTTGTTTATAATTTCTTTGGTACTCCCACTGTTTAGAGCACAGGTTGAACACCATGTTCATCTAAGCCTTATTAGTTAAAAAATGTGTTATGGCAAGGCAAATAAACTAGTTTAAAAAACATTAAATTTCACCATTTGTAGAAATTCAAGTTTTATAATAGCTTGCTATAGCAGCTATAGATAAATTAGTCACCTTATTACAAAACTAAACCTTTGTAAACAAGTTTAAATTTAATTTTCAAGAACCAAATTGCACTAGTCAAGAGTGTAGGAATTTTGAGAATCTAACAACTAGATTCAAAGTACTGTATCACTTAGTATACCCTTTAAGGTAGCACTTATCCAGTCCAAAACTCCAGTGACAAAATTCCTAGTTTATCAAGATAAACACAGTAACACTGGATTAAAGGAAAAACATTGCTATGGTATAGACTGTGGTTGGCTTCTATCCAGTAACCTTGGGAATGAAGACATCTTTGTAAACAAGTCCTGCTGTTTCTTTAACAGCTAACATAGGAAATAATTAAATGTATTCTTTAGTGCCAATTGTAAGTTTTAAAATCAGAATGGCAGTGTAACTTGTGAATTGGCTAGGGCAATCAATCACAGCACTACTTTCTGTAAAACTTTAGTAGTTCAGTGATACCAGTTCTACCCAATCTTGGTGAATTCCAACTTGTTTGCTTAGTTATCTTCTTTAGTGTTTTCCTGGTGGTTTTTCAGTGCTCTTCGGTGGTGTCATAATGCCTCCATTGCACACTGGTGACAACTGTCCCCCTTTTCTGAAGGTGTTTATGTAATTTACTTCCTCC)$ . 05BR042 ENSG00000156170.13 ENSG00000164941.14 +/+ +/+ chr8:95041626 chr8:94851553 CDS/splice-site CDS/splice-site duplication 3 0 0 232 224 medium out-of-frame . Squalene/phytoene_synthase(100%)| . . ENSG00000156170.13 ENSG00000164941.14 ENST00000396124.9 ENST00000523731.6 downstream upstream . ^(GGGCACGCAGTGCCGGCGTCATGGCGGCCTCCGCGCACGGCTCTGTCTGGGGGCCGTTGCGGCTTGGCATCCCCGGCCTGTGCTGCCGCCGGCCGCCTCTGGGTCTGTACGCGCGCATGCGGCGGCTGCCCGGGCCGGAGGTGTCTGGGCGGAGCGTGGCTGCGGCCAGCGGACCGGGCGCCTGGGGCACTGACCACTACTGCCTGGAGCTGCTGCG___GAAACGGGATTATGAAGGTTATTTATGCTCCCTGCTGCTCCCTGCAGAATC)CCGAAGCTCTGTTTTTGCACTGAGGGCCTTTAATGTGGAACTGGCTCAG___GTTAAAGACTCAGTCTCTGAGAAAACAAgTGGACTGATGCGAATGCAGTTTTGGAAAAAAACTGTGGAAGATATATACTGTGACAATCCACCACATCAGCCTGTGGCCATTGAACTATGGAAG___GCTGTTAAAAGACATAATCTGACTAAAAGATGGCTTATGAAAATCGTCGATGAAAGA|CTTCAGCAAGTGTCAACATTGGTCAGTTAGAGCATCAACTTATATTGTCAGTGGATCCTTGGAGGATTAGACAAATTTTAATTGAATTAC(ATGGTATGACTTCAGAGCGCCAGTTCTGGACAGTGTCTAATAAG___TGGGAAGTACCTTCTGTCTATAGTGGTGTTATCCTGGGAATTAAAGACAATTTAACAAGAGATTTGGTTTATATTCTTATGGCCAAAGGTTTGCACTGCAGTACTGTTAAG___GACTTTTCCCATGCTAAACAGCTCTTTGCTGCTTGTTTGGAGTTGGTAACAGAGTTCTCACCGAAGCTTCGTCAGGTCATGCTGAATGAGATGTTGCTTTTGGATATTCATACACACGAAGCTGGGACAGGGCAGGCAGGAGAGAGACCGCCATCCGACCTTATAAGTAGAGTACGAGGCTATCTGGAAATGAGGCTTCCTG___ATATTCCTCTTCGTCAAGTTATAGCTGAGGAATGTGTTGCCTTTATGTTAAACTGGAGAGAAAATGAATACCTTACACTCCAAGTTCCTGCATTTTTGCTTCAGAGTAATCCATATGTAAAG___CTTGGACAGCTTTTAGCAGCTACATGCAAAGAACTTCCAGGCCCTAAAGAAAGTAGACGGACTGCCAAAGACCTTTGGGAAGTTGTTGTTCAAATCTGTAGTGTGTCCAGTCAGCACAAACGAGGAAATGATGGCAGAGTTAGTTTAATAAAACAGAGGGAATCTACGTTAGGTATCATGTATCG___GAGTGAACTGCTTTCTTTTATCAAAAAATTACGA___GAACCACTCGTTTTGACTATTATTTTATCACTCTTTGTGAAACTTCACAATGTTCGG___GAGGACATTGTGAATGATATTACAGCTGAACACATTTCTATTTGGCCATCTTCCATTCCCAA___CCTCCAGTCTGTGGACTTTGAAGCTGTGGCAATCACAGTGAAAGAGCTAGTTCGATATACACTCAGTATAAATCCAAATAACCATTCTTGGTTAATTATCCAGGCAGATATTTACTTTG___CAACGAATCAGTATTCAGCAGCTCTTCACTATTACCTCCAGGCAGGAGCTGTGTGTTCTGACTTCTTTAACAAGGCTGTGCCCCCTGATGTTTATACAGACCAG___GTAATAAAACGAATGATAAAATGTTGTTCTTTGCTGAATTGCCACACACAG___GTGGCCATTTTATGTCAGTTCCTCAGAGAAATTGACTACAAAACAGCGTTTAAATCTCTGCAAGAACAAAACAG___TCATGATGCTATGGACTCCTACTACGACTACATATGGGATGTTACCATTTTGGAATACTTGACTT___ATCTTCATCATAAAAGAGGAGAAACAGATAAAAGACAAATTGCA___ATCAAAGCCATCGGCCAGACAGAGTTGAATGCAAGCAATCCAGAAGAAGTGTTACAGCTGGCAGCGCAGAGAAGGAAAAAAAAGTTTCTCCAAGCAATGGCAAAACTTTACTTTTAAGCAGTTAAATTTTTTTAACTTTTATTTTTTAAACAATGGGCTAAAAATAAACAGTATTAAAAGGTTAAGTTTATATAATACATATGTACACAATTAGTGGTGTTTTCTTTTCAGACAAAATACTGAAACAAATATTAGTTTAAAAACAAACTATACAGAAGACTTCATACCGTAACAATAAATGTATAGTTTCTTCAAAGGGAGAAGAGATTCACATATCTGATAACAAAATAAACTAGCAATCTAGTTTTCTAATCTACTTTATGAGGCTGGATTTTTTTTTTAGAAAAGCTAATTTAAAATATTTAGAAATAGCTAGCCTATGTACAGCAAGTTTTCATGTCTTTTTTTAATAAATAGATTTCTAGGAGTCAGTATATATTTAATACTCTTCTTCCTTAAGAAAATAGAAGTTTAGGTCAAGTGTTAAGCTTTATCACTTTGACACTGTCCTTATCTCACAATGGAGGAATTTAGAAAGGACCTTAACAGTTTCACAAACATAAATAAAGCCTTAGTCACACTAAATTAAAAAAAAAAATTCCTTAGGGATATCTTAGAGTAGTAAAGTGACTTCCTCATATAAATAGTTTGAAAGGGTACTTAAGTTTTTCACCCAAATTGTGATATACAAAAAGGTTATTACCAAGCAACCTACATGTCAAGAAAGCCCCAGTTAGGAAGGAGCCACAGCATTTATCTTGTTTATAATTTCTTTGGTACTCCCACTGTTTAGAGCACAGGTTGAACACCATGTTCATCTAAGCCTTATTAGTTAAAAAATGTGTTATGGCAAGGCAAATAAACTAGTTTAAAAAACATTAAATTTCACCATTTGTAGAAATTCAAGTTTTATAATAGCTTGCTATAGCAGCTATAGATAAATTAGTCACCTTATTACAAAACTAAACCTTTGTAAACAAGTTTAAATTTAATTTTCAAGAACCAAATTGCACTAGTCAAGAGTGTAGGAATTTTGAGAATCTAACAACTAGATTCAAAGTACTGTATCACTTAGTATACCCTTTAAGGTAGCACTTATCCAGTCCAAAACTCCAGTGACAAAATTCCTAGTTTATCAAGATAAACACAGTAACACTGGATTAAAGGAAAAACATTGCTATGGTATAGACTGTGGTTGGCTTCTATCCAGTAACCTTGGGAATGAAGACATCTTTGTAAACAAGTCCTGCTGTTTCTTTAACAGCTAACATAGGAAATAATTAAATGTATTCTTTAGTGCCAATTGTAAGTTTTAAAATCAGAATGGCAGTGTAACTTGTGAATTGGCTAGGGCAATCAATCACAGCACTACTTTCTGTAAAACTTTAGTAGTTCAGTGATACCAGTTCTACCCAATCTTGGTGAATTCCAACTTGTTTGCTTAGTTATCTTCTTTAGTGTTTTCCTGGTGGTTTTTCAGTGCTCTTCGGTGGTGTCATAATGCCTCCATTGCACACTGGTGACAACTGTCCCCCTTTTCTGAAGGTGTTTATGTAATTTACTTCCTCC)$ MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGPGAWGTDHYCLELLRKRDYEGYLCSLLLPAESRSSVFALRAFNVELAQVKDSVSEKTsGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDER|lqqvstlvs* 05BR042 ENSG00000008441.16 ENSG00000179115.11 +/+ -/+ chr19:13025552 chr19:12930276 CDS/splice-site CDS duplication/5'-5' 2 2 1 492 897 medium out-of-frame . MH1_domain(100%),Nuclear_factor_I_protein_pre-N-terminus(100%)| . . ENSG00000008441.16 ENSG00000179115.11 ENST00000397661.6 . downstream upstream duplicates(1) ^(GCGAGCGCGGCGGCGGCGGCGGCAGCGGCGGCCCCGGAGCCGGCGGGGCCGAGCTTGCGAGCGGCGAGCGCGGAGCGGCGCCGGGCCGAGCGCGGGGCCGCGGGCCGGGCGGGCGCAGCGCGGCGGAGGCCGGAGGAGCCGAGCCGGAGCCCGAGCCCGAGCGCGGCCGCCGCCTGCCGGGCCTCCCCTCGCCGCGGCCGGCCGCCGCGCTCCCGCCCGGGCGCCCAGCTATGTACTCCCCGTACTGCCTCACCCAG___GATGAGTTCCACCCGTTCATCGAGGCACTGCTGCCTCACGTCCGCGCTTTCTCCTACACCTGGTTCAACCTGCAGGCGCGGAAGCGCAAGTACTTCAAGAAGCATGAAAAGCGGATGTCGAAGGACGAGGAGCGGGCGGTGAAGGACGAGCTGCTGGGCGAGAAGCCCGAGATCAAGCAGAAGTGGGCATCCCGGCTGCTGGCCAAGCTGCGCAAGGACATCCGGCCCGAGTTCCGCGAGGACTTCGTGCTGACCATCACGGGCAAGAAGCCCCCCTGCTGCGTGCTCTCCAACCCCGACCAGAAGGGCAAGATCCGGCGGATTGACTGCCTGCGCCAGGCTGACAAGGTGTGGCGGCTGGACCTGGTCATGGTGATTTTGTTTAAG)GGGATCCCCCTGGAAAGTACTGATGGGGAGCGGCTCTACAAGTCGCCTCAGTGCTCGAACCCCGGCCTGTGCGTCCAGCCACATCACATTGGAGTCACAATCAAAGAACTGGATCTTTATCTGGCTTACTTTGTCCACACTCCGG|CTTCTCAGCCTGTCCCCCCCGGACCAGCTGGAGCCGCCGCTGCACCTCATCCTCCATGCTGTCCACCTGCCAGGATAAGGAGTGTGAGGGGTATGAGGGCCAGGGGCCCATGTGCCCGTCCACCTGCCCCCTGACCAGCCCGCAGGAACGCACCACTCGGAACACCCGGGGCCCGTCAGCCGCACTCTTGTCCACCCGAATCCACTTGTTGGACATGGCCTTGCTGAAGCC MYSPYCLTQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRKDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTP|asqpvppgpagaaaaphppccpparirsvrgmrargpcarppap* 05BR042 ENSG00000215424.10 ENSG00000284668.2 +/- +/+ chr21:46241655 chr1:3979500 exon intron translocation/3'-3' 2 1 0 30 1 medium . . . . . ENSG00000215424.10 ENSG00000284668.2 . . upstream upstream . TCCTGGTTTCCCGGAATGTCTTTCTCATTAACATATGAGTTCTCAGGGCCTGTATGTGCAAAGGAAACCTGAACCATTGAGGTTCAGACTAGGTTGTTGACAGGATACAATGCTGTGAAGATGTCAGTACTGGTAAGTTCTAAAATTCATCAGGATAAACAAATATGCAcCAATTGCTGAGAAAGTT|c|AACCAGCTATTATTAGATTTCCAAGCTCATATTTATGTTTTATTAATCTGTGTAATGAAGTTCCCTTTCTCCCGACACCATCAGGGAGGCATTTGCCCAGGAAGGCTGTGCCTGTGGCAGAGACTCATGGCTCCGGCCTATAACAAGGGCCATGTACATCTTGCAGCCTGGTGGAGGCCGTGGAACACCATCCTGCAGTTCTGGG . 05BR042 ENSG00000235347.1 ENSG00000100364.18 -/+ -/+ chr22:45793186 chr22:45214353 exon intron duplication 1 2 0 4 3 medium . . . . . ENSG00000235347.1 ENSG00000100364.18 . . downstream upstream duplicates(1) AATCAAATGATTTACATGTTTACTGACAAGAGCTTTTTTAGTTCCACCCAAATGCTTTCTCCTAATAGCCCAGCCAGGCCTTTTGCAGGCTCTGCAGTTGCTTCTCAGGACCGTGGTCACCAGGTTTGTCTACAGTTCTCCCACAAAACC...CTTAAAATTCAAAAACAATTGTATTGTACTCTGTTGATGTCCAACAGACTTTTCTTATTTTAAAAAATCTCCATAACCATaA|CCACAAACTGGAAACCAGGAGAATGCACACATGTCACAATAAAAACAAACTAGTGATCCACACTACACTGTGGATAAACCTCAAACTTGTCCTGCAGAGCAAAAGAAGTCAGGCGCAAAAAGCTATTTACTGTATGATCACATTCACACGATGTTTCGGAAAAGGCGGAATCGTAGTGACTTAAAGCAGGAGGGTGGTTGCCCTGAAAGGTTCTAGATCTTGATTGTGACGCTGGTTTCACAGGTGCGTATAACCATCAAAAC . 05BR042 ENSG00000249859.11 ENSG00000253438.4 +/+ +/+ chr8:127794734 chr8:127398893 exon/splice-site exon/splice-site duplication 0 3 0 215 10 medium . . . . . ENSG00000249859.11 ENSG00000253438.4 ENST00000651587.1 ENST00000646670.1 downstream upstream duplicates(1) ^(AGAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCA)GTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA|ATTTCTGTTCAGAAAACACATCTTCAGGAAAATCACCCCTGACTCACCCAGGCTAAGTCACAAGCTTTTGTTATAAGGTCTCATCACACCATATGCCTCTCTTTCAAAACCAGCACCTGCAGAAATGTcAaTG(TACATTGATTTATGTAAGTATTTGAATTATGACTGTTTTTGTATATGTCCATGAGCTCCCTGAAGGCAAGTACTTTGTCTGCTTCCGCCTGTTTCATAACTATCATGCCTAACACACAATAACCTCTCAATTAATAGCCAAGTTTATTAGCAAAAAAAATTGACTGAAAAAGTGAATGAACGAAAA)$ . 05BR042 ENSG00000171346.16 ENSG00000244086.1(6873),ENSG00000002834.18(7316) -/- ./- chr17:41515885 chr17:38862543 CDS/splice-site intergenic deletion 2 0 0 323 0 medium out-of-frame . Intermediate_filament_protein(100%)| . . ENSG00000171346.16 . ENST00000393976.6 . upstream downstream . ^(GCACAGCTGGTAAATGGGAAAAGAGGGGTTTAAAG___CATTCAGGCACATAGAGCCTTCTGCAGCGGCCCGTCCCCAGCCAGCACTTGACAGGACAGATGGGGGCTAATCTGGCCCTGCTAAGCAGCGACATGCCTCTCCTGGAGAAGGCAGGGGCTTCCTGGAACTTGCCCCAGCCTTATCAGCGGAGGTTTGCCCCAACACATCCCAGAAACGAGCAAAGGTTCAGCGCCGTGCAGTTGGCAGGTGTCGGGATCATCAGTCATCCCCTTGTCAGTCCCAAGCCTGCTGGGCTTTTGTGAGGGTGCCAGGAACACAGGCTGGAGGATGGCAGGAGGGGAGTAGAGGTGGGAGGAGGGGAGTCCATCTGCAGCACCAGGTAAGGGGATGGATGCTGGCTCCTCTGGTCACCTCAGCTGGAACACTACTCAAGGTCCCTGGCTCCTGTCCTCCACCTGCCCCCAGGGGCCCTGCATTCCCATCCCCAGGGCCTCCACTCTCCCTGAGCCCTGCAGTCTCTCACTCACTCACTCACTCACTCATTCACTCACTCACTCACTCACAGG___GTGTGCAGGCAGCTGTGTTTGTCAGGAAGGCAGAAGGAGTTGGCTTTGCTTTAGGGGAGGAGACGAGGTCCCACAACACCCTCTGAAGGGTATATAAGGAGCCCCAGCGTGCAGCCTGGCCTGGTACCTCCTGCCAGCATCTCTTGGGTTTGCTGAGAACTCACGGGCTCCAGCTACCTGGCCATGACCACCACATTTCTGCAAACTTCTTCCTCCACCTTTGGGGGTGGCTCAACCCGAGGGGGTTCCCTCCTGGCTGGGGGAGGTGGCTTTGGTGGGGGGAGTCTCTCTGGGGGAGGTGGAAGCCGAAGTATCTCAGCTTCTTCTGCTAGGTTTGTCTCTTCAGGGTCAGGAGGAGGATATGGGGGTGGCATGAGGGTCTGTGGCTTTGGTGGAGGGGCTGGTAGTGTTTTCGGTGGAGGCTTTGGAGGGGGCGTTGGTGGGGGTTTTGGTGGTGGCTTTGGTGGTGGCGATGGTGGTCTCCTCTCTGGCAATGAGAAAATTACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTACGTGCCCTGGAGGAGGCCAATGCTGACCTGGAGGTGAAGATCCATGACTGGTACCAGAAGCAGACCCCAACCAGCCCAGAATGCGACTACAGCCAATACTTCAAGACCATTGAAGAGCTCCGGGACAAG___ATCATGGCCACCACCATCGACAACTCCCGGGTCATCCTGGAGATCGACAATGCCAGGCTGGCTGCGGACGACTTCAGGCTCAA___GTATGAGAATGAGCTGGCCCTGCGCCAGGGCGTTGAGGCTGACATCAACGGCTTGCGCCGAGTCCTGGATGAGCTGACCCTGGCCAGGACTGACCTGGAGATGCAGATCGAGGGCCTGAATGAGGAGCTAGCCTACCTGAAGAAGAACCACGAAGAG___GAGATGAAGGAGTTCAGCAGCCAGCTGGCCGGCCAGGTCAATGTGGAGATGGACGCAGCACCGGGTGTGGACCTGACCCGTGTGCTGGCAGAGATGA)GGGAGCAGTACGAGGCCATGGCGGAGAAGAACCGCCGGGATGTCGAGGCCTGGTTCTTCAGCAAG___ACTGAGGAGCTGAACAAAGAGGTGGCCTCCAACACAGAAATGATCCAGACCAGCAAGACGGAGATCACAGACCTGAGACGCACGATGCAGGAGCTGGAGATCGAGCTGCAGTCCCAGCTCAGCATG|GAGCCAGGGGAAGAGGAAGTGATTGAAGATGCTGGAGAAAATGGAGACAACGG MTTTFLQTSSSTFGGGSTRGGSLLAGGGGFGGGSLSGGGGSRSISASSARFVSSGSGGGYGGGMRVCGFGGGAGSVFGGGFGGGVGGGFGGGFGGGDGGLLSGNEKITMQNLNDRLASYLDKVRALEEANADLEVKIHDWYQKQTPTSPECDYSQYFKTIEELRDKIMATTIDNSRVILEIDNARLAADDFRLKYENELALRQGVEADINGLRRVLDELTLARTDLEMQIEGLNEELAYLKKNHEEEMKEFSSQLAGQVNVEMDAAPGVDLTRVLAEMREQYEAMAEKNRRDVEAWFFSKTEELNKEVASNTEMIQTSKTEITDLRRTMQELEIELQSQLSM|epgeeeviedagengdn 05BR043 ENSG00000163626.17 ENSG00000249051.2 -/- -/- chr4:73069317 chr4:73777730 CDS/splice-site exon duplication 128 34 1 272 73 high out-of-frame . . . . ENSG00000163626.17 ENSG00000249051.2 ENST00000295890.8 ENST00000508565.2 upstream downstream duplicates(44),mismatches(5) ^(GTTGCTGGCGCGTGCGCGTATCAGCCTTGGCTGGCCGG)TGTATGTCCGCTGGATTGTGAGGCCCGGGATCTGGGCTCCGCCGTGGTGCAGAAATGCTGTGCCGGCTCGGCGGTCGGTGGCTGCGGCCGCTCCCTGCCCTGCAGCTTTGGGCTAGGGACCTGCCGCTTGCGCCGGTTCCTACGAGCGGCGCCAAGCGCCCCACTCTCCCAGTGTGGGCAGTGGCACCAGTCTCTGCAGTACATGCGAACGGCTGGTACGAGGCCCTGGCCGCGTCTTCGCCGGTGCGGGTTGCGGAGGAAGTACTGCTCGGCGTGCACGCCGCCACGGGCCTGCCCTGGTGGGGCAGCATTCTGCTCTCCACCGTGGCCTTACGGGGTGCTGTCACGCTGCCTTTGGCAGCCTACCAGCACTACATCCTGGCCAAG|GCCAAGATGACAACGAGCCCAGCTGAAGCTGACATCCCAGCAAATTGCATGACAAATTGCAAAGACGACTAACCCACAACCTACTCTTCTGGAAA$ MLCRLGGRWLRPLPALQLWARDLPLAPVPTSGAKRPTLPVWAVAPVSAVHANGWYEALAASSPVRVAEEVLLGVHAATGLPWWGSILLSTVALRGAVTLPLAAYQHYILAK|akmttspaeadipancmtnckdd* 05BR043 ENSG00000185787.15 ENSG00000285579.1 +/+ +/- chr15:78891572 chr8:70953033 CDS/splice-site intron translocation/5'-5' 35 17 2 1195 74 high out-of-frame . MRG(100%),RNA_binding_activity-knot_of_a_chromodomain_(100%)| . . ENSG00000185787.15 ENSG00000285579.1 ENST00000379535.8 . downstream downstream duplicates(7) ^(AACCCATGGCCGGGAAAAGAAGCTCCTGCTCCCCGCTCCACTCCCGGCGTCTTCACACTTGGGGAAGGGAGAGGCAGGAAGTGCAAGGACCGCGCAAGACCCGGCCCCCCGAGCCGCCAGGGGCCGCGCCAGCAGCCCAGATGCGGTGGGCGGGAGCTGGGGGGGCGGCGGGGTCCCGCGAAGACCTGCGACCTGGCGCCCTCGCCGGCTGTGTCCCGGCCAGCCCGCTTTCCAGGCGAGCCTCGCTAAGGAGTGTGAGAAACCAAATCCTCAGTGGGTAAACCGCGCTCCGTCCAGCCCACTCGGACGAGAGCTCTCCCGGGAGCCAGGCGCGTTGCTGCACCCGAGGTGGGGAAACCGGAGCCCGAAGAGCGGAAGGGGCTTATTCCAGGCGACAGGCAGTGTCAGTAACTGAATCAGGGGCCGAGGAAGTTTCCCCAGAAGCGCGGCTTCGCTCCCGGCCCGGCCCGACCCCGACTACTGTCCCCTAATACCCAGGGAGCGGAAGACGCGACCAACTCCAGGCACAGCGGAGCCGGCGCGGGGTCCACAAAG___CAAAAAAGAATGATCCCCTTCCCCCATCCTCAAGTGACTGATGCTCTTGGAAGATACTCCAACTATATCCTGAGTAGCACTGTGGAGAGCCCCAGTCTGAGAAGCATGAACTTTGAGAAGCAAG___GTGAGCGAGTGCTGTGCTTTCATGGGCCTCTTCTTTATGAAGCAAAG___TGTGTAAAGGTTGCCATAAAGGACAAACAAGTGAAATACTTCATACATTACAGTGGTTGGAATAAAAA___TTGGGATGAATGGGTTCCGGAGA)GCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAGCGAGAACTTCAAAAAGCCAATCA___GGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAGGAAAGAAGACATCTGGTCTGCAACAGAAAAATGTTGAAGT___GAAAACGAAAAAGAACAAACAGAAAA___CACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGACCCCTCAGCCTCCTCGGAAGAAAAGGGCCCGGGTAGATCCTACTGTTGAAAAT|AATGCAGCTCATGCCACATTCAGTTCTCCGTGCGAACTTGACAACTGAACTGGTCTACACCACAATTAATGAG___GGTCAGAAAGACCTCTTCTAGAAGCTGTCCTATGGTAGTGGTGACCGGTGTCTGTTGAGCCCTCCAGGCCCTTTCTCCTGAGCCTGGGGAGCTAAAGGCATCCTGAAGTAAAAGTGTCACTAAAAGCTGCAATAAAAGGAATAATAGATGTAACTCTCTGAATGACACaAGTCTGGGCACAGTCCGACGTCTACGGAGAGAAAGAGAGAGAGGAACAAGAAAAGGAGAAGGAAGGCCAGG MIPFPHPQVTDALGRYSNYILSSTVESPSLRSMNFEKQGERVLCFHGPLLYEAKCVKVAIKDKQVKYFIHYSGWNKNWDEWVPESRVLKYVDTNLQKQRELQKANQEQYAEGKMRGAAPGKKTSGLQQKNVEVKTKKNKQKTPGNGDGGSTSETPQPPRKKRARVDPTVEN|naahatfsspceldn* 05BR043 ENSG00000198363.18 ENSG00000243122.1(183597),ENSG00000166069.13(259926) -/- ./- chr8:61684039 chr15:37674700 CDS/splice-site intergenic translocation 16 36 1 427 134 high out-of-frame . Aspartyl_beta-hydroxylase_N-terminal_region(100%)| . . ENSG00000198363.18 . ENST00000379454.9 . upstream downstream duplicates(16),mismappers(6) ^(AGTCACAGGTTCGTACACGCGAGGCCGGGCGCGCGCAGCCGGCAGGCGGGTGAAGTCTTCCCAGGTGCTGCAGGCGGTGCTGAGGCACAGGGTCTGCTGCAGGAGCAGCGGCCCGAACCCGCTCCAGCGGCCCGCCGCCGCCAGCGGTTCC)CGCGTCGCGTGTGTACCCCCGCGCACTGAAGGAGGTCCaCCAGCCCTCACCAGCCCCCGCGGACCGTGCAATGGCCCAGCGTAAGAATGCCAAGAGCAGCGGCAACAGCAGCAGCAGCGGCTCCGGCAGCGGTAGCACGAGTGCGGGCAGCAGCAGCCCCGGGGCCCGGAGAG___AGACAAAGCATGGAGGACACAAGAATGGGAGGAAAGGCGGACTCTCAGGAACTTCATTCTTCACGTGGTTTATGGTGATTGCATTGCTGGGCGTCTGGACATCTGTAGCTGTCGTTTGGTTTGATCTTGTTGACTATGAGGAAGTTCTAG|ACTGGAGGGCAGTGGCATGAGGATAGATCACAGCAGTGTTGAACTCCTGGTCTCGAGTGATCCTCCCTCCTTGGCCTCACAAAGCACTGGGATTACAAGGCACGAACCCTTACGACCACCCCAGAATCAAAGTTTTGAAGCAAGTTATAATAAACGAAGCTTAGCTTTCATTTCTGGTTATTTCACTCTAATTCTTCTCTTTCCCC MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARRETKHGGHKNGRKGGLSGTSFFTWFMVIALLGVWTSVAVVWFDLVDYEEVL|dwrava* 05BR043 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 14 30 0 81 89 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(3),mismatches(1) AAAAGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAG(TGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05BR043 ENSG00000158092.7 ENSG00000240086.7(470950),ENSG00000242222.1(15053) +/+ ./+ chr3:136862319 chr3:135910838 5'UTR/splice-site intergenic duplication 3 32 0 70 123 high . . . . . ENSG00000158092.7 . ENST00000288986.6 . downstream upstream duplicates(4) ^ACCGCGCGTGCCCCGCCTCTCTCCCAAGAGCTACGCGGCGGCGGCGGAGCGCAGGCCTCGTGCCGTTACGGCCATCACGGCGGCCGCAGTGGCGTCCTGGAGCCCTCCTCAG|GTGAAAGACAAAGCCAGAAAGAAAGCCACCCCATGTATGTGACATCCAAATACACTGTGCCCTCTTCCTCCAGGAAGCAGGGGCCGAGCCTACACCCCGGAATCCAGTCCTATGAAAAGTCCCTCTTCACGTTTAACAG___TTCACAGGTGCAGAAATTGAAGAGGATCTGGAAAAGGTAGTTAAAATCGCCATGCTGTGCAACAAACAAAACAGATGTGAGGTGACATTTGTCTGAGGAACTTTGTGC . 05BR043 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 6 23 1 52 81 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(4),mismatches(1) AAAAAAAAAAGAGGTGAAACTGCGGGACCGGCGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCC(AGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05BR043 ENSG00000038382.20 ENSG00000154122.14 +/+ -/+ chr5:14476963 chr5:14780079 CDS/splice-site intron deletion/read-through/5'-5' 15 10 0 194 32 high out-of-frame . CRAL/TRIO_domain(100%),PH_domain(100%),RhoGEF_domain(100%),SH3-RhoGEF_linking_unstructured_region(100%),SH3_domain(100%),Spectrin_repeat(100%)| . . ENSG00000038382.20 ENSG00000154122.14 ENST00000344204.9 . downstream upstream duplicates(1),mismatches(2) ^(ATTGAAATCAAGATGGAGGCTCGCGGCAGCCGCCGGCGCCCGTGATCCCGGAGGTCTCGCCGGCCACGGGCCCCCGCCCTCGCGACTGCGCGTCCGGGAGGCGCGTGCTGCTGCCCGCGCTCCGGCCGGCGCCCGGGAGGCCGTGGCTCCGCGCCTCCGCCCCTCGGCCAGCTCGCGGCTACCGGGCGGAGTCCTCGTCTATGTGGGCGCGCTCCTTGGGCCGAGCCGCCGCCGCCGCCCCCCGCCGCCCCGGGGCTCTGCGTCCGCGCGCCGGGCGCGGGCAGCTGGGTGCTCGGCGCCGCCAGGCCCGGCGCGGAGCGGGCGGCACGCGGCGCTAGGGGCGCGGGGCCCGAGGCGGGCGCGGCCGCGGGCGCCGCCGCAGCCATGAGCGGCAGCAGCGGCGGAGCCGCCGCCCCCGCCGCGTCCTCCGGCCCCGCCGCGGCGGCCAGCGCGGCTGGCTCGGGCTGCGGGGGCGGTGCCGGCGAGGGGGCAGAGGAGGCGGCCAAGGACCTGGCCGACATCGCGGCCTTCTTCCGATCCG___GGTTTCGAAAAAACGATGAAATGAAAGCTATGGATGTTTTACCAATTTTGAAGGAAAAAGTTGCATACCTTTCAG___GTGGGAGAGATAAACGTGGAGGTCCCATTTTAACGTTTCCGGCCCGCAGCAATCATGACAGAATACGACAGGAGGATCTCAGGAGACTCATTTCCTATCTAGCCTGTATTCCCAG___CGAGGAGGTCTGCAAGCGTGGCTTCACGGTGATCGTGGACATGCGTGGGTCCAAGTGGGACTCCATCAAGCCCCTTCTGAAGATCCTGCAGGAGTCCTTCCCCTGCTGCATCCATGTGGCCCTGATCATCAAGCCAGACAACTTCTGGCAGAAACAGAGGACTAATTTTGGCAGTTCTAAATTTGAATTTGAG___ACAAATATGGTCTCTTTAGAAGGCCTTACCAAAGTAGTTGATCCTTCTCAGCTAACTCCTGAGTTTGATGGCTGCCTGGAATACAACCACGAAGAATGGATTGAAATCAGAGTTGCTTTTGAAGACTACATTAGCAATGCCACCCACATGCTGTCTCGGCTGGAGGAACTTCAGGACATCCTAGCTAAGAAGGAGCTGCCTCAGGATTTAGAGGGGGCTCGGAATATGATCGAGGAACATTCTCAGCTGAAGAAGAAGGTGATTAAGGCCCCCATCGAGGACCTGGATTTGGAGGGACAGAAGCTGCTTCAGAGGATACAGAGCAGTGAAAGCTTTCCCAAAAAGAACTCAGGCTCAGGCAATGCGGACCTGCAGAACCTCTTGCCCAAGGTGTCCACCATGCTGGACCGGCTGCACTCGACACGGCAGCATCTGCACCAGATGTGGCATGTGAGGAAGCTGAAGCTGGACCAGTGCTTCCAGCTGAGGCTGTTTGAACAGGATGCTGAGAAG___ATGTTTGACTGGATCACACACAACAAAGGCCTGTTTCTAAACAGCTACACAGAGATTGGGACCAGCCACCCTCATGCCATGGAGCTTCAGACGCAGCACAATCACTTTGCCATGAACTGTATG___AACGTGTATGTAAATATAAACCGCATCATGTCGGTGGCCAATCGTCTGGTGGAGTCTGGCCACTATGCCTCGCAGCAGATCAGGCAGATCGCGAGTCAGCTGGAGCAGGAGTGGAAGGCGTTTGCGGCAGCCCTGGATGAGCGGAGCACCTTGCTGGACATGTCCTCCATTTTCCACCAGAAGGCCGAAAAG___TATATGAGCAACGTGGATTCATGGTGTAAAGCTTGCGGTGAGGTAGACCTTCCCTCAGAGCTGCAGGACCTAGAAGATGCCATTCATCACCACCAGGGAATATATGAACATATCACTCTTGCTTATTCTGAG___GTCAGCCAAGATGGGAAGTCGCTCCTTGACAAGCTCCAGCGGCCCTTGACTCCCGGCAGCTCCGATTCCCTGACAGCCTCTGCCAACTACTCCAAGGCCGTGCACCATGTCCTGGATGTCATCCACGAGGTGCTGCACCACCAGCGGCAGCTGGAGAACATCTGGCAACACCGCAAGGTCCGGCTGCATCAGAGGCTGCAGCTGTGTGTTTTCCAGCAGGACGTTCAGCAG___GTGCTAGACTGGATCGAGAACCACGGAGAAGCATTTCTGAGCAAACATACAGGTGTGGGGAAATCTCTTCATCGGGCCAGAGCATTGCAGAAACGTCATGAAGATTTTGAAGAAGTGGCACAG___AACACATACACCAATGCGGATAAATTACTGGAAGCAGCAGAACAGCTGGCTCAGACTGGGGAATGTGACCCCGAAGAGATTTATCAGGCTGCCCATCAGCTGGAAGACCGGATTCAAGATTTCGTTCGGCGTGTTGAGCAGCGAAAGATCCTACTGGACATGTCAGTGTCCTTTCACACCCATGTGAAAGAG___CTGTGGACGTGGCTGGAGGAGCTGCAGAAGGAGCTGCTGGACGACGTGTATGCCGAGTCGGTGGAGGCCGTGCAGGACCTCATCAAGCGCTTTGGCCAGCAGCAGCAGACCACCCTGCAGGTGACTGTCAACGTGATCAAGGAAGGGGAGGACCTCATCCAGCAGCTCAG___GGACTCTGCCATCTCCAGTAACAAGACCCCCCACAACAGCTCCATCAACCACATTGAGACGGTGCTGCAGCAGCTGGACGAGGCGCAGTCGCAGATGGAGGAGCTCTTCCAGGAGCGCAAGATCAAGCTGGAGCTCTTCCTGCAGCTGCGCATCTTCGAGAGGGACGCCATCGAC___ATTATCTCAGACCTCGAGTCTTGGAATGATGAGCTTTCTCAGCAAATGAATGACTTCGACACAGAAGATCTCACGATTGCAGAGCAGCGCCTCCAGCACCATGCAGACAAAGCCTTGACCATGAACAACTTGACTTTTGACGTCATCCACCAAGGGCAAGATCTTCTGCAGTATGTCAATGAGGTCCAGGCCTCTG___GTGTGGAGCTGCTGTGTGATAGAGATGTAGACATGGCAACTCGGGTCCAGGACCTGCTGGAGTTTCTTCATGAAAAACAGCAGGAATTGGATTTAGCCGCAGAGCAGCATCGGAAACACCTGGAGCAGTGCGTGCAGCTGCGCCACCTGCAGGCAGAAGTGAAACAG___GTGCTGGGTTGGATCCGCAACGGAGAGTCCATGTTAAATGCCGGACTTATCACAGCCAGCTCGTTACAAGAGGCAGAGCAGCTCCAGCGAGAGCACGAGCAGTTCCAGCATGCCATTGAG___AAAACACATCAGAGCGCGCTGCAGGTGCAGCAGAAGGCAGAAGCCATGCTACAGGCCAACCACTACGACATGGACATGATCCGGGACTGCGCCGAGAAGGTGGCGTCTCACTGGCAACAGCTCATGCTCAAGATGGAAGATCGCCTCAAGCTCGTCAACGCCTCTGTCGCTTTCTACAAAACCTCAGAGCAG___GTCTGCAGCGTCCTCGAGAGCCTGGAACAGGAGTACAAGAGAGAAGAAGACTGGTGTGGCGGGGCGGATAAGCTGGGCCCAAACTCTGAGACGGACCACGTGACGCCCATGATCAGCAAGCACCTGGAGCAGAAGGAGGCATTCCTGAAG___GCTTGCACCCTTGCTCGGAGGAATGCAGACGTCTTCCTGAAATACCTGCACAGGAACAGCGTGAACATGCCAGGAATGGTGACGCACATCAAAGCTCCTGAACAGCAAGTGAAAA___ATATCTTGAATGAACTCTTCCAACGGGAGAACAGGGTATTGCATTACTGGACCATGAGGAAGAGACGGCTGGACCAGTGTCAGCAGTACGTGGTCTTTGAGAGGAGTGCCAAGCAG___GCTTTGGAATGGATCCATGACAATGGCGAGTTCTACCTTTCCACACACACCTCCACGGGCTCCAGTATACAGCACACCCAGGAGCTCCTGAAAGAGCACGAGGAGTTCCAGATAACTGCAAAG___CAAACCAAAGAGAGAGTGAAGCTATTGATACAGCTGGCTGATGGCTTTTGTGAAAAAGGGCATGCCCATGCGGCAGAGATAAAAAAATGTGTTACTGCTGTGGATAAGAGGTACAGAGATTTCTCTCTGCGGATGGAGAAGTACAGGACCTCTTTGGAAAAAGCCCTGGGGATTTCTTCAGATTCCAACAAATCG___AGTAAAAGTCTCCAGCTAGATATCATTCCAGCCAGTATCCCTGGCTCAGAGGTGAAACTTCGAGATGCTGCTCATGAACTTAATGAAGAGAAGCGGAAATCTGCCCGCAGGAAAGA___GTTCATAATGGCTGAGCTCATTCAAACTGAAAAGGCTTATGTAAGAGACCTCCGGGAATGTATGGAT___ACGTACCTGTGGGAAATGACCAGTGGCGTGGAAGAGATTCCACCTGGCATTGTAAACAAAGAACTCATCATCTTCGGAAACATGCAAGAAATCTACGAATTTCATAATAA___CATATTCCTAAAGGAGCTGGAAAAATATGAACAGTTGCCAGAGGATGTTGGACATTGTTTTGTTACTTGG___GCAGACAAGTTTCAGATGTATGTCACATATTGCAAAAATAAGCCTGATTCTACTCAGCTGATATTGGAACATGCAGGGTCCTATTTTGAC___GAGATACAGCAGCGACATGGATTAGCCAATTCCATTTCTTCCTACCTTATTAAACCAGTTCAGCGAATAACGAAGTATCAGCTCCTTTTAAAA___GAGCTGCTGACGTGCTGTGAGGAAGGAAAGGGAGAGATTAAAGATGGCCTGGAGGTGATGCTCAGCGTGCCGAAGCGAGCCAATGATGCCATGCACCTCAGCATGCTGGAAG___GGTTTGATGAAAACATTGAGTCTCAGGGAGAACTCATCCTACAGGAATCCTTCCAAGTGTGGGACCCAAAAACCTTAATTCGAAAGGGTCGAGAACGGCATCTCTTCCTTTTTGAAATGTCCTTAGTATTTAGTAAAGAAGTGAAAGATTCCAGTGGGAGAAGCAAGTACCTTTATAAAAGCAAATTGTTT___ACCTCAGAGTTGGGTGTCACAGAACATGTTGAAGGAGACCCTTGCAAATTTGCACTGTGGGTGGGGAGAACACCAACTTCAGATAATAAAATTGTCCTTAAG___GCTTCCAGCATAGAGAACAAGCAGGACTGGATAAAGCATATCCGCGAAGTCATCCAGGAGCGGACGATCCACCTGAAGGGAGCCCTGAAGGAGCCCATTCACATCCCTAAGACCGCTCCCGCCACAAGACAGAAGGGAAGGAG___GGATGGAGAGGATCTGGACAGCCAAGGAGACGGCAGCAGCCAGCCTGATACGATTTCCATCGCCTCACGGACGTCTCAGAACACGCTGGACAGCGATAAG___CTCTCTGGTGGCTGTGAGCTGACAGTGGTGATCCATGACTTCACCGCTTGCAACAGCAACGAGCTGACCATCCGACGGGGCCAGACCGTGGAAGTTCTGGAGCGGCCGCATGACAAGCCTGACTGGTGTCTGGTGCGGACAACTGACCGCTCCCCAGCGGCAGAAGGCCTGGTCCCCTGTGGTTCACTGTGCATCGCCCACTCCAGAAGTAGCATGGAAATGGAGGGCATCTTCAACCACAAAG___ACTCGCTCTCCGTCTCCAGCAATGACGCCAGTCCACCCGCATCCGTGGCTTCCCTCCAGCCCCACATGATCGGGGCCCAGAGCTCGCCGGGCCCCAAGCGGCCGGGCAACACCCTGCGCAAGTGGCTCACCAGCCCCGTGCGGCGGCTCAGCAGCGGCAAGGCCGACGGGCACGTGAAGAAGCTGGCGCACAAGCACAAGAAGAGCCGCGAGGTCCGCAAGAGCGCCGACGCCGGCTCGCAGAAGGACTCCGACGACAGTGCGGCCACCCCGCAGGACGAGACGGTCGAGGAG___AGAGGCCGGAACGAGGGCCTGAGCAGCGGTACTCTCTCCAAATCCTCCTCCTCGGGGATGCAGAGCTGTGGAGAAGAGGAAGGCGAGGAGGGGGCCGACGCCGTGCCCCTGCCGCCACCCATGGCCATCCAGCAGCACAGCCTCCTCCAGCCAGACTCACAGGATGACAAG___GCCTCTTCTCGGTTATTAGTCCGCCCCACCAGCTCCGAAACACCGAGTGCAGCCGAGCTCGTCAGTGCAATTGAGGAACTCGTGAAAAGCAAGATG___GCACTGGAGGATCGCCCCAGCTCACTCCTTGTTGACCAGGGAGATAGTAGCAGCCCTTCCTTCAACCCTTCGGATAATTCCCTTCTCTCTTCCTCCTCGCCCATTGATGAGATGGAAGAAAGGAAATCCAGCTCTTTAAAGAGA)AGACA___CTACGTTTTGCAAGAACTAGTGGAGACAGAGCGTGACTATGTGCGGGACCTTGGCTATGTGGTTGAG___GGCTACATGGCACTTATGAAAGAAGATGGTGTTCCTGATGACATGAAAGGAAAAGACAAAATTGTGTTCGGCAACATCCATCAGATTTACGACTGGCACAGAGA___CTTTTTTTTAGGAGAGTTAGAGAAGTGCCTTGAAGATCCAGAAAAACTAGGATCCCTTTTTGTTAAACAC|GCCCTGGAGAAGCTGAGTGTGCCGCTGACAGAGAACCACGTTTCACTGTGAATGAACGGTGCCTGGATGGGCGACAGGGCATTCAGGAGAAGTGGCTGTGCAAGTCAGGACGTGCCAAGGGCTGCTGGGCCCTGACCTTGTTATACACATTCATGAC MSGSSGGAAAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEMKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDILAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIRQIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKTHQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRNADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQYVVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLIQLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQLDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLWEMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTLIRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVGRTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRRDGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRGQTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVSSNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSKMALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVETERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLEDPEKLGSLFVKH|aleklsvpltenhvsl* 05BR043 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 8 12 0 27 61 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream duplicates(2) GCCCGAGCCCGAGCCCGACGGCGGCTGCAGGGCGCTCCGGCAGCCCGAGCCGGCGCAGCGCAGCCCGCACCCTCCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTC(GGCAGCAGAATGACCTTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 05BR043 ENSG00000253649.5 ENSG00000253641.6(1858),ENSG00000272505.1(2561) -/- ./- chr8:10497712 chr8:10484246 CDS/splice-site intergenic deletion/read-through 10 8 0 60 91 high out-of-frame . Trypsin(100%)| . . ENSG00000253649.5 . ENST00000647727.1 . upstream downstream duplicates(4),mismatches(1) ^(GGCAATTTTGGACTGGAATTGACAAGAAGATGTTCCAGCTTCTAATTCCCCTGCTTTTGGCACTCAAGGGACATGCCCAGGACAATCCAG___AAAACGTACAATGTGGCCACAGGCCTGCTTTTCCAAACTCGTCATGGTTACCATTTCATGAACGGCTTCAAGTCCAGAATGGTGAGTGCCCGTGGCAAGTGAGTATCCAGATGTCACGGAAACACCTCTGTGGAGGCTCAATCTTACATTGGTGGTGGGTTCTGACAGCCGCACACTGCTTCCGAAGAACCCT___ATTAGACATGGCCGTGGTAAATGTCACTGTGGTCATGGGAACGAGAACATTCAGCAACATCCACTCGGAGAGAAAGCAAGTGCAGAAGGTCATTATT)CACAAAGATTACAAACCGCCCCAGCTCGACAGTGACCTCTCTCTGCTTCTACTTGCCACACCAGTGCAATTCAGCAATTTCAAAATGCCTGTCTGCCTGCAGGAGGAGGAGAGGACCTGGGACTGGTGTTGGATGGCACAGTGGGTAACGACCAATGGGTATG|AGTAGAATCCTGTTTCCTTCTGAAGCCCTTCCTAATTGATATACTTAGGGCCATCTTCCTTAACACCCCAGACCTGCTGGTTTCGGAGCCATCGACCTCCTCATTTCCACCGCAGAGGGCTGGAGGAGATTCAGAAAATCAGGGCAGGGCCCAGGAGAAG___GTTCTTTCAGAGCATGGCTTCAGCCTGGTTACTTCTGACACCAGCCAGGAGGAACAGACTTCTTCC...AAAGATTTGTGTGGCCTTTCACTTTGCACGCTGAAGCTTAACCCTGGCTGCAACGGGACGGGGGGCCACCAAGGAAGTCATTAAGGTTAACTAAGGTATAGGGTGGTGCCCTGGTTGACAGGATGGTGGCCTTATGAGGACACTTACAAG MFQLLIPLLLALKGHAQDNPENVQCGHRPAFPNSSWLPFHERLQVQNGECPWQVSIQMSRKHLCGGSILHWWWVLTAAHCFRRTLLDMAVVNVTVVMGTRTFSNIHSERKQVQKVIIHKDYKPPQLDSDLSLLLLATPVQFSNFKMPVCLQEEERTWDWCWMAQWVTTNGY|e* 05BR043 ENSG00000055609.18 ENSG00000261455.1(85328),ENSG00000231139.1(39764) -/- ./- chr7:152435626 chr7:152550877 CDS/splice-site intergenic duplication 12 5 1 76 38 high out-of-frame . . . . ENSG00000055609.18 . ENST00000262189.11 . upstream downstream duplicates(4) ^(GGTGCGCGCGCCCGCGCCGATGTGTGTGAGTGCGTGTCCTGCTC)GCTCCATGTTGCCGCCTCTCCCGGTACCTGCTGCTGCTCCCGGGGCTGCGGGAAATGCGAGAGGCTGAGCCGGGGAGGAGGAACCCGAGCAGCAGCGGCGGCGGCGGCGGCCGCGGCGGCGGGAGCCCCCCAGGcGGAGGACCGGGATCCATGTGTCTTTCCTGGTGACTAGGATGTCGTCGGAGGAGGACAAGAGCGTGGAGCAGCCGCAGCCGCCGCCACCACCCCCCGAGGAGCCTGGAGCCCCGGCCCCGAGCCCCGCAGCCGCAGACAAAAGACCTCGGGGCCGGCCTCGCAAAGATGGCGCTTCCCCTTTCCAGAGAGCCAGAAAGAA|GTGGATGAAACACAAACAAGAAAGGCAACGTCAGCATGAACATGGAGGAGGACGTCTTCGAGGGAGAGCTGGCAGG___GCAAGTTCAAGA...___GTCTAGCACAGACCCGATGTGTATCCTGTAGCCTCAAGCTGTCCAGAAAGCTGCCATCAGCCCTCCCTGATGTGGGGTGCCGGCTGTCCGGGCTGAGCCACCAATGCACAAGACACACCCTGGCCCAAAGTGCATCACTAAGAGCCTCTCACATTCTTCTGCTTCAAACAGGACCCAGGAGTACCGACTGAGGCATTCGCC MSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKk|wmkhkqerqrqhehgggrlrgragrass 05BR043 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 8 0 23 27 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(2) CCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGC(CTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05BR043 ENSG00000232677.8 ENSG00000277654.6(32580),ENSG00000248441.7(6649) -/- ./+ chr19:36315957 chr15:95202444 exon/splice-site intergenic translocation 8 8 0 95 35 high . . . . . ENSG00000232677.8 . ENST00000658126.1 . upstream upstream duplicates(7) ^(GGACTCGTGGGCGCTCGCACTGGCGCTGATGTAGTTTCCTGACCTCTGACCCGTATTGTCTCCAGATTAAAG___GTACGACATTTGGAGGCCCCAGCGAGAAACGTCACCGGGAGAAACGTCACCGGGCGAGAGCCGGGCCCGCTGTGTGCTCCCCCGGAAGGACAGCCAGCTTGTAGGGGGGAGTGCCACCTGAAAAAAAAATTTCCAGGTCCCCAAAGGGTGACCGTCTTCCGGAGGACAGCGGATCGACTACCATGTGGGTGCCCACAAAAATTCCACCTCTGAGTCCTCAACTGCTGACCCCGGGGTCAG___TAGACACGGGGTTTCACCATGTTGGCCAGGCCGGTCTTGAACTTGTGACGTCAGGTGATGCACCCGCCTTGGCCTCCCAAAGTGCTGGG)ATTACAG___GTCCAGATTTTGAACAAATCTCtCTAGAGATTGAACAG___AGCTGCGCCTGGATCCCGCCgCAGTGAGGAGACCTGAAGACCAGAGAAAACACAGCAA___GCCCCTGGATCCTCCTGGAATCCCCGATCCCTCTTGCTCCCTGGCAGAGTTTTCTAGTCCCTCTTACTTGAAGCATGTCTTTCAGAGCCCGGCACCACCCATCTTGAGTATCTG|CCATGTGAAGAGGGACATGTTTCCTTCCCCTATGATTGCAAGTCTTTGGATTTTGGAGGCAACACATTCTTCATTTGGGCGAGTTACTCCAGGCAATTTATCAAGTGACTCAAAGGGCTGCCAGTTTTGAGTGGGGCCCAGAATAGGAGAAGGCTCTGCAACAGG . 05BR043 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19759323 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 5 0 163 90 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream mismappers(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCA)GTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCC...TTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAAGCCTCTATAGCTTGGCCTGTCTTCGTAGGAAACCCTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHk|vikenvaevtrssacsviqks* 05BR043 ENSG00000154380.17 ENSG00000143742.13(10357),ENSG00000234112.2(2323) -/- ./- chr1:225652686 chr1:225800825 CDS/splice-site intergenic duplication 7 6 2 668 34 high out-of-frame . . . . ENSG00000154380.17 . ENST00000366844.7 . upstream downstream duplicates(2) ^(GGTTCCTCGCGGCGATCCCGACTCTCCTCCCGCGGCTGCAGCAGCTGCCGGTTGCACACGGCCTCGGCGGCGGCGCGGCGAGCGCGGGCCTGTGGAGCGGCGGCCGGGCGCGCGGCCCCGGCGGGCACCCCTCAGAGGGCGGCCGAGGAAGCTCCGGGAGGAGGAGC)AGGACCACGAGGAGGTGGGAGGCGGCGGCCGCCTGGGGACCAGCTCCGCGCCTCGGCCTCTCCGCCCCCTCCCCAGCCTTTCTCTCGCCCTCTTCTCCCACACTCCCGGCCGGCGCCTCGGCTTTGTGCGAGGAGATGGTGTAGCCCCCTGGCCGCCGAAGGAGGAGCCGGACACTTGTCTCCCGTCTCCGAGCTGCTCCCCACCCCTGGAGGAGAGACCCCCCCCTCGGCTCGGCGCCTTCTGCGTCTCCCGGCTGGTGGGGAAGCCTCTGCGCCGCCGGCACCATGAG|CCCCCATGGCCTGGTGTTGGGCCTGATCACCCCAACATTTCTGGTGCCCAGCGTGGGGCTATGAAGACCCCAGTAGCTAGAGCATGTGGAAGTGGAGGACGCATCATCAAAGGAAACCTGAGGATGACCGAAAGGAGCTCG___GAAGTGAGGAGCATCTCTGCCTG Ms|phglvlglitptflvpsvgl* 05BR043 ENSG00000167522.16 ENSG00000280441.3 -/- +/+ chr16:89490245 chr21:8450147 5'UTR/splice-site exon/splice-site translocation 1 12 0 23 110 high . . . . . ENSG00000167522.16 ENSG00000280441.3 ENST00000301030.10 ENST00000651813.1 upstream upstream duplicates(2) ^(AGAGGCCGCCCTGAGACGGTGCGCGATGGACCGAGGGCCCCAGCCGGGGAGGCGCCGCCGCCGAGCCCGCGGCCAGACGCCCCATCAGTAGCGTCCGCACCGGGAGCCGCGGCTCTCGCCCGAGCCGTGGGCGCGCCCGAGGGGCGGGCTCGCCTCCCGCCGTCCCTCGCAGCTCTGCCGGGCCCGAGCCCGCGCCGCCGCCGCCGCCGCCTTGCCGCTCGGG)CCGCGCGGCCCGGGAAACGCGGCCGCGGGCTGCATGGGCAGCGCCCGCGCCCCGCCGCTGAGCCGTCGCGGAGCCGCGCAGCCCTCGGAGCACG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCCGGCTAATTTTTCTATTTTTACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGG(TTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ . 05BR043 ENSG00000165813.20 ENSG00000287246.1(25884),ENSG00000286687.1(22873) -/- ./+ chr10:114135891 chr10:4474576 CDS/splice-site intergenic inversion 7 4 1 60 49 high out-of-frame . . . . ENSG00000165813.20 . ENST00000369287.8 . upstream upstream duplicates(4) ^(ATCTTTGTTGATGTGTCAGCTCCGCAGGGGTTTGGGGAAACGGCCGCTGAGTGAGGCGTCGGCTGTGTTTCTCACCGCGGTCTTTTCCTCCCACTCTTGGCTGGTTGGACCCCGCTATGGAAAAGTTGGCCCCTGAGCCAGAGCTCCAGCAGCCTTGTTAGGGCGTGGCCTGAGGCTTGGATAAGTGGG___ATGTAAAACGAAGATCAGGAGCAGATTTGAAGAATTACAAAGTGAATTGGTGCCAGTCAGCATGTCAGAGACAGACCACATAGCCTCTACTTCCTCTGATAAAAATGTTGGGAAAACACCTGAATTAAAGGAAGACTCATGCAACTTGTTTTCTGGCAATGAAAGCAGCAAATTAGAAAATGAGTCCAAACTATTGTCATTAAACACTGATAAAACTTTATGTCAACCTAATGAGCATAATAATCGAATTGAAGCCCAGGAAAATTATATTCCAGATCATGGTGGAGGTGAGGATTCTTGTGCCAAAACAGACACAGGCTCAGAAAATTCTGAACAAATAGCTAATTTTCCTAGTGGAAATTTTGCTAAACATATTTCAAAAACAAATGAAACAGAACAGAAAGTAACACAAATATTGGTGGAATTAAGGTCATCTACATTTCCAGAATCAGCTAATGAAAAGACTTATTCAGAAAGCCCCTATGATACAGACTGCACCAAGAAATTTATTTCAAAAATAAAGAGCGTTTCAGCATCAGAGGATTTGTTGGAAGAAATAGAATCTGAGCTCTTATCTACGGAGTTTGCAGAACATCGAGTACCAAATGGAATGAATAAGGGAGAACATGCATTAGTTCTGTTTGAAAAGTGTGTGCAAGATAAATATTTGCAGCAGGAACATATCATAAAAAA___GTTAATTAAAGAAAATAAGAAGCATCAGGAGCTCTTCGTAGACATTTGTTCAGAAAAAGACAATTTAAGAGAAGAACTAAAGAAAAGAACAGAAACTGAGAAGCAGCATATGAACACAATTAAACAG___TTAGAATCAAGAATAGAAGAACTTAATAAAGAAGTTAAAGCTTCCAGAGATCAACTAATAGCTCAAGACGTTACAGCTAAAAATGCAGTTCAGCAGTTACACAAAGAGATGGCCCAACGGATGGAACAG___GCCAACAAGAAATGTGAAGAGGCACGCCAAGAAAAAGAAGCAATGGTAATGAAATATGTAAGAGGTGAGAAGGAATCTTTAGATCTTCGAAAGGAAAAAGAGACACTTGAGAAAAAACTTAGAGATGCAAATAAGGAACTTGAGAAAAACACTAACAAAATTAAGCAGCTTTCTCAGGAGAAAGGACGGTTGCACCAGCTGTATGAAACTAAG___GAAGGCGAAACGACTAGACTCATCAGAGAAATAGACAAATTAAAGGAAGACATTAACTCTCACGTCATCAAAGTAAAGTGGGCACAAAACAAATTAAAAGCTGAAATGGATTCACACAAG___GAAACCAAAGATAAACTCAAAGAAACAACAACAAAATTAACACAAGCAAAG)GAAGAAGCAGATCAGATACGAAAAAACTGTCAGGATATGATAAAAACATATCAG___GAGTCAGAAGAAATTAAATCAAATGAGCTTGATGCAAAGCTTAGAGTCACAAAAGGAGAACTTGAAAAACAAATGCAAGAAAAATCTGACCAGCTAGAG___ATGCATCATGCCAAAATAAAGGAACTAGAAGATCTGAAGAGAACATTTAAGGAGGGTATGGATGAGTTAAGAACACTGAGAACAAAG|GAGCTGTAAGAAGAGAAGTTCCCTGTTATGGAAATTTATTGCACCCAGTAAGTATAAGATATCCCTGAGAGGAAGTTTTTCCCTTTTCTTTTTTTAAAAAAATTTGTTGGGATGACTGTATATACTGCATGTGTATAAACTGTATTCTGAAAATGGAAGAAGACAAATCAGATAATTCACCAAAAGAACTGCCTGCTGAGGAGAG MSETDHIASTSSDKNVGKTPELKEDSCNLFSGNESSKLENESKLLSLNTDKTLCQPNEHNNRIEAQENYIPDHGGGEDSCAKTDTGSENSEQIANFPSGNFAKHISKTNETEQKVTQILVELRSSTFPESANEKTYSESPYDTDCTKKFISKIKSVSASEDLLEEIESELLSTEFAEHRVPNGMNKGEHALVLFEKCVQDKYLQQEHIIKKLIKENKKHQELFVDICSEKDNLREELKKRTETEKQHMNTIKQLESRIEELNKEVKASRDQLIAQDVTAKNAVQQLHKEMAQRMEQANKKCEEARQEKEAMVMKYVRGEKESLDLRKEKETLEKKLRDANKELEKNTNKIKQLSQEKGRLHQLYETKEGETTRLIREIDKLKEDINSHVIKVKWAQNKLKAEMDSHKETKDKLKETTTKLTQAKEEADQIRKNCQDMIKTYQESEEIKSNELDAKLRVTKGELEKQMQEKSDQLEMHHAKIKELEDLKRTFKEGMDELRTLRTK|el* 05BR043 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 7 0 36 22 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(4) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAG)GTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05BR043 ENSG00000163472.19 ENSG00000143199.18 +/- -/- chr1:156291403 chr1:167818267 CDS CDS/splice-site duplication/3'-3' 2 8 0 122 23 high . . . . . ENSG00000163472.19 ENSG00000143199.18 . ENST00000545172.5 upstream downstream duplicates(1) AGTGAGCATGCGCTCCGGCTCCACCACGAACATGTAGTAGAGGTTCCACATCAGCATCGACAGCAGTGGCAGAAACGTCAGGCCGTAGCCGAAGCCTCGGAAGGAGCGGCCCACGGCAAAG|GTATGCCAGACTTCAGGAATGGGACAACTTTTACAAATTTTCCAATAGAGCTAAAAATCTTTTGCCAAGAAGAACCATGACACTTACTTACTATGACGGAATATCTAGGTACATGGAGGGGCAAGTTCTTCACCTTCAAAAACAAATCAAAGAACAGTCAGAGAATGCCCAAGCCAGTGGGGAGGAGCTACTCAAG___GAATCATGGTACTCAACCTCTGAGTTAAAAGAAGACCAATGGCTTCAGACGATCTTGAGTCTCCCATCATGGGAAAAAATTGTAGCAGGCAGGGTAAACATTCAGGATCTTCAAAAAAACAAATTCCTGATGAGAGCTAATACCGTGGACAATCATTTCTAACATGTCAAAGAAAAAAGATTTTAATAAGCACTATGTCCTTGTGATTATCTATTATTGACC(TTTCTCCGTGGCTGGCCCACTCCAGGTTCCTACATAATCTCTTCTGTTCCAGACACAGAAACAGACATGTTGATTTCTTCTCTTTCTGGAGGGCCTACAAGGGTCAGGAGTGTCATGGTTTACTTCTTCCTAATGTTACAAAAAATTGCTTTTACCATTCATGTTGTTTTAGCTTGACCTGTTTATTTCAGCCCATGCAAAACTGTATCATATTACAAATTATTAATCTC)$ . 05BR043 ENSG00000145916.19 ENSG00000204677.13 +/+ +/+ chr5:178138258 chr5:178086244 CDS/splice-site exon/splice-site duplication 3 4 2 78 28 high out-of-frame . . . . ENSG00000145916.19 ENSG00000204677.13 ENST00000313386.9 ENST00000651413.2 downstream upstream . ^(GACAGTGGCGCCGGAAGCCGGGGCCGGGGCTGCGGGGCGAG___TTGTCGGCCCTGGGCCGGGAGCTGGAGTCCCAGACTCATAGGTCCCGGCCCAGCC)CCCGAAGAGCCGCCTCAGCCGGGGGGAGTTGCTCGGACTCAAACGTCCAGTCCTCGTGCGACCGCGCTGGGTCGGAAGTGAGCAG___GCTGAGGCCACCATGGAGCAGTGTGCGTGCGTGGAGAGAGAGCTGGACAAGGTCCTGCAGAAGTTCCTGACCTACGGGCAGCACTGTGAGCGGAGCCTGGAGGAGCTGCTGCACTACGTGGGCCAGCTGCGGGCTGAGCTGGCCAGCGCAG|ACTCGACAAGGCACACTGAACAAGTGGACAGTGCGCCGGCGTGGAACATGGTAGGGCCAACAGTGTCTCCCGAGGGTACCTGGCCCCAGAAACCCAGACTGGCGGTCATCCTGCACAAAAGAGGCGGTTGAATCACCTGCAGCGCCTGGAGATGAGGAG MEQCACVERELDKVLQKFLTYGQHCERSLEELLHYVGQLRAELASA|dstrhteqvdsapawnmvgptvspegtwpqkprlavilhkrgg* 05BR043 ENSG00000135476.12 ENSG00000182544.9(4739),ENSG00000135476.12(9154) +/+ ./+ chr12:53277608 chr12:53259145 CDS/splice-site intergenic duplication 5 3 0 35 19 high out-of-frame . . . . ENSG00000135476.12 . ENST00000257934.9 . downstream upstream duplicates(1) ^(GGTTACATTTTGGATCCTCGCGGAGTACTGGTCAGGCGGTTAAGTCCTGTACCTAGGAAAGAGGGCGAGCTCTGGGGCG___CTCTCCGGTGTCATGAGGAGCTTCAAAAGAGTCAACTTTGGGACTCTGCTAAGCAGCCAGAAGGAGGCTGAAGAGTTGCTGCCCGCCTTGAAG___GAGTTCCTGTCCAACCCTCCAGCTGGTTTTCCCAGCAGCCGATCTGATGCTGAGAGGAGACAAGCTTGTGATGCCATCCTGAGGGCTTGCAACCAGCAGCTGACTGCTAAGCTAGCTTGCCCTAGGCATCTGGGGAGCCTGCTGGAGCTGGCAGAGCTGGCCTGTGATGGCTACTTAGTGTCTACCCCACAGCGTCCTCCCCTCTACCTGGAACGAATTCTCTTTGTCTTACTGCGGAATGCTGCTGCACAAGGAAGCCCAGAGGCCACACTCCGCCTTGCTCAGCCCCTCCATGCCTGCTTGGTGCAGTGCTCTCGCGAGGCTGCTCCCCAGGACTATGAGGCCGTGGCTCGGGGCAGCTTTTCTCTGCTTTGGAAGGGGGCAGAAGCCCTGTTGGAACGGCGAGCTGCATTTGCAGCTCGGCTGAAGGCCTTGAGCTTCCTAGTACTCTTGGAGGATGAAAGTACCCCTTGTGAGGTTCCTCACTTTGCTTCTCCAACAGCCTGTCGAGCGGTAGCTGCCCATCAGCTATTTGATGCCAGTGGCCATGGTCTAAATGAAGCAGATGCTGATTTCCTAGATGACCTGCTCTCCAGGCACGTGATCAGAGCCTTGGTGGGTGAGAGAGGGAGCTCTTCTGGGCTTCTTTCTCCCCAGAGGGCCCTCTGCCTCTTGGAGCTCACCTTGGAACACTGCCGTCGCTTTTGCTGGAGCCGCCACCATGACAAAGCCATCAGCGCAGTGGAGAAGGCTCACAGTTACCTAAGGAACACCAATCTAGCCCCTAGCCTTCAGCTATGTCAGCTGGGGGTTAAGCTGCTGCAGGTTGGGGAGGAAGGACCTCAGGCAGTGGCCAAGCTTCTGATCAAGGCATCAGCTGTCCTGAGCAAGAGTATGGAGGCACCATCACCCCCACTTCGGGCATTGTATGAGAGCTGCCAGTTCTTCCTTTCAGGCCTGGAACGAGGCACCAAGAGGCGCTATAGACTTGATGCCATTCTGAGCCTCTTTGCTTTTCTTGGAGGGTACTGCTCTCTTCTGCAGCAGCTGCGGGATGATGGT___GTGTATGGGGGCTCCTCCAAGCAACAGCAGTCTTTTCTTCAGATGTACTTTCAGGGACTTCACCTCTACACTGTGGTGGTTTATGACTTTGCCCAAGGCTGTCAG___ATAGTTGATTTGGCTGACCTGACCCAACTAGTGGACAGTTGTAAATCTACCGTTGTCTGGATGCTGGAGGCCTTAGAGGGCCTGTCGGGCCAAGAGCTGACGGACCACATGGGGATGACCG___CTTCTTACACCAGTAATTTGGCCTACAGCTTCTATAGTCACAAGCTCTATGCCGAGGCCTGTGCCATCTCTGAGCCGCTCTGTCAGCACCTGGGTTTGGTGAAGCCAGGCACTTATCCCGAGGTGCCTCCTGAGAAG___TTGCACAGGTGCTTCCGGCTACAAGTAGAGAGTTTGAAGAAACTGGGTAAACAGGCCCAGGGCTGCAAGATGGTGATTTTGTGGCTGGCAGCCCTGCAACCCTGTAGCCCTGAACACATGGCTGAGCCAGTCACTTTCTGGGTTCGGGTCAAGATGGATGCGGCCAGGGCTGGAGACAAGGAGCTACAGCTAAA___GACTCTGCGAGACAGCCTCAGTGGCTGGGACCCGGAGACCCTGGCCCTCCTGCTGAGGGAGGAGCTGCAGGCCTACAAGGCGGTGCGGGCCGACACTGGACAGGAACGCTTCAACATCATCTGTGACCTCCTGGAGCTGAGCCC)CGAGGAGACACCAGCCGGGGCCTGGGCACGAGCCACCCACCTGGTAGAACTGGCTCAGGTGCTCTGCTACCACGACTTTACGCAGCAGACCAACTG___CTCTGCTCTGGATGCTATCCGGGAAGCCCTGCAGCTTCTGGACTCTGTGAGGCCTGAGGCCCAGGCCAGAGATCAGCTTCTGGACGATAAAGCACAGGCCTTGCTGTGGCTTTACATCTGTACTCTGGAAGCCAAAATaCAGGAA___GGTATCGAGCGGGATCGGAGAGCCCAGGCCCCTGGTAACTTGGAGGAATTTGAAGTCAATGACCTGAACTATGAAGATAAACTCCAGGAAGATCGTTTCCTATACAGTAACATTGCCTTCAACCTGGCTGCAGATGCTG|CTGGAAACATGATTATTTGATCTGGAGCTTTTAAGCGATCCTGAGGAGAAAAGAGAAACATCCTGGGGACCCAGGAGCCAATGAACGAGGAGGCAGGAGGACTGGGGCAGGAAGACAGTACAGGGTTCTGAGGCCTGGAGGATGACCTCTTCCTGGAAATTCAGTCCCTGCCCTGGGAG MRSFKRVNFGTLLSSQKEAEELLPALKEFLSNPPAGFPSSRSDAERRQACDAILRACNQQLTAKLACPRHLGSLLELAELACDGYLVSTPQRPPLYLERILFVLLRNAAAQGSPEATLRLAQPLHACLVQCSREAAPQDYEAVARGSFSLLWKGAEALLERRAAFAARLKALSFLVLLEDESTPCEVPHFASPTACRAVAAHQLFDASGHGLNEADADFLDDLLSRHVIRALVGERGSSSGLLSPQRALCLLELTLEHCRRFCWSRHHDKAISAVEKAHSYLRNTNLAPSLQLCQLGVKLLQVGEEGPQAVAKLLIKASAVLSKSMEAPSPPLRALYESCQFFLSGLERGTKRRYRLDAILSLFAFLGGYCSLLQQLRDDGVYGGSSKQQQSFLQMYFQGLHLYTVVVYDFAQGCQIVDLADLTQLVDSCKSTVVWMLEALEGLSGQELTDHMGMTASYTSNLAYSFYSHKLYAEACAISEPLCQHLGLVKPGTYPEVPPEKLHRCFRLQVESLKKLGKQAQGCKMVILWLAALQPCSPEHMAEPVTFWVRVKMDAARAGDKELQLKTLRDSLSGWDPETLALLLREELQAYKAVRADTGQERFNIICDLLELSPEETPAGAWARATHLVELAQVLCYHDFTQQTNCSALDAIREALQLLDSVRPEAQARDQLLDDKAQALLWLYICTLEAKiQEGIERDRRAQAPGNLEEFEVNDLNYEDKLQEDRFLYSNIAFNLAADA|agnmii* 05BR043 ENSG00000075391.16 ENSG00000143355.16(3182),ENSG00000151414.15(218338) +/+ ./- chr1:178300118 chr1:197938660 CDS/splice-site intergenic inversion 3 3 0 21 5 high out-of-frame . . . . ENSG00000075391.16 . ENST00000367649.7 . downstream downstream duplicates(1) ^(GAAGAAGGCGGCTCCGAGGAGGTGGGAGGGCGAGCCTCCCCTCCCGGGTTCTTCTGCGTCCTCTCCCGGGAGGGACCCACACACACCTGAGCCCGGACCCACCCTTGGTCGGGGCCACGCTGGATCCTCCTCCCGGCCTGGGTCCCGCCCGCCGACTGCAGGTGGGCTGCATCGCCCGAGCCTCGGGCAGTGGGCGACGGGGAAGGAGGTGAGAGGTGTCCGCGCCGGCTGCCGCTCGGGTCCCTGCCCTCGCTGCGCGCTCTCCTCCTCCCCTTACCGCAGGCAGGGCGCGGAGCCGCGCGCCAGCCCGCCCCGAAGCCGCCGCCTCGTCCCCCTCCCGCCTCGGGGCACCATGGAGCTCTCTCCGTCGTCCGGAGGAGCCGCGGAGGCGCTGTCCTGGCCGGAGATGTTCCCGGCGCTGGAGTCCGACTCGCCGCTGCCCCCGGAGGACCTGGACGCGGTTGTCCCAGTCAGTGGAGCCGTCGCCGGTGGCATGTTGGATCGGATCCTTCTGGAGTCCGTGTGCCAGCAACAGAGCTGGGTCCGGGTGTACG___ATGTGAAAGGACCACCCACCCACCGTCTGTCTTGTGGTCAGTCACCCTACA)CCGAGACAACAACGTGGGAGCGGAAGTATTGCATCCTCACAGACAGCCAGTTGGTATTGCTCAACAAGGAGAAGGAG___ATACCTGTGGAAGGGGGACAGGAGCAGCAGACAGATTCCACCAAAGGGCGATGCCTGAGGAGAACTGTCAGTGTCCCTTCCGAGGGTCAGTTTCCCGAGTACCCACCAGAGGGCGCCACTAAACTGG|GCTGCAGAGAGTGAAGATGGAGGAAACAGCACAAAACCTGAAACAACTCATATGATGTCCTATAGAGAATATCTTCCCACCAATTAAGAAAACTTGGTTCTAGTGAGTACAATGATCAGGGGGATGTCAAAAATAAAATAAAA----------GAAGTAGATCAAGACTGAGATtAAAAACATAGAATGAAGAAAGGATCAATAGGATTTGGTAACAAAATGATACAAGATAATTTcAAAAAGAAAAAAAAAGAAGGA MELSPSSGGAAEALSWPEMFPALESDSPLPPEDLDAVVPVSGAVAGGMLDRILLESVCQQQSWVRVYDVKGPPTHRLSCGQSPYTETTTWERKYCILTDSQLVLLNKEKEIPVEGGQEQQTDSTKGRCLRRTVSVPSEGQFPEYPPEGATKL|gcre* 05BR043 ENSG00000110497.14 ENSG00000170959.14 -/- -/+ chr11:46508191 chr11:31171488 CDS/splice-site intron inversion/5'-5' 3 1 1 49 3 high out-of-frame . . . . ENSG00000110497.14 ENSG00000170959.14 ENST00000458649.6 . upstream upstream duplicates(1) ^(AAATGAAGGGCCCTTAATCATAAGCAATTTCCTAGTTACACGACCTCAGTGCTCCCAGAAGGGGATTAATGAAGAGCCACCAGACTATCTTTATGGAGAATCTAGATTGGGAAGTTAAGCTAAGAATGTGCATTTTTGAAAAAGTTTTTATGGTAGAAGAGAATGTATATCAGAGGAAAGAATGTAGAGAAGAAAGCAACATTGTCCACTGGGAATTGATAAGTTCTGCGTAGAATTTAGAGTTATAAGGACTATCTCATTGGCTCCTAATGAATGCTAAATAACAAATGGAAATTGCT___ATTTCCATGAGGACAACTTACAAGGACCTGTATGGCCTCATTTTAGCTGCTTCAGTGTGTTGGAGCTGTTACTTGCTCCTTCATTTCCTGGGCCTGGTGTGACAGTGGCTACTGAGCGCCATGAAGGTTGTCCCAGAAAAGAATGCTGTCCGGATACTCTGGGGGCGAGAACGGGGTGCTCGGGCCATGGGAGCTCAGCGGCTTCTGCAGGAGCTGGTAGAAGATAAAACCCGGTGGATGAAATGGGAGGGCAAG___AGAGTAGAACTGCCGGATAGTCCACGCTCTACCTTCTTATTGGCCTTCAGCCCAGACAG___GACTCTCTTAGCCTCCACCCATGTGAACCATAATATCTATATTACGGAGGTGAAGACTGGCAAGTGTGTTCATTCCCTGATTGGACACCGCCGTACTCCATGGTGTGTCACTTTTCATCCCACCATCTCAGGCCTTATTGCTTCTGGCTGCCTAGATGGGGAGGTTAGGATTTGGGATTTACAC___GGTGGCAGTGAAAGCTGGTTCACAGATAGCAACAATGCCATTGCCTCCCTGGCTTTCCACCCTACGGCTCAGCTCCTGCTGATTGCCACTGCCAATGAGATCCACTTCTGGGACTGGAGTCGACGGGAACCCTTTGCTGTGGTGAAGACAGCTAGTGAGATGGAACGGGTCCG___TCTGGTGAGATTTGATCCACTTGGACACTACTTACTCACAGCAATTGTTAACCCCTCTAATCAACAG___GGTGATGACGAACCAGAGATCCCCATAGATGGAACAGAATTATCCCACTACCGTCAGCGTGCCCTCCTGCAATCACAGCCAGTTCGCCGGACGCCTCTCCTCCACAATTTCCTGCACATGCTGTCCTCCCGCTCTTCTGGCATCCAGGTGGGAGAGCAAAGCACAGTGCAAGATTCTGCTACCCCCTCACCCCCACCGCCTCCCCCTCAGCCCTCCACGGAGCGCCCCAGGACTTCCGCTTACATCAGGCTCCGACAGCGGGTCAGTTACCCCACAGCTGAGTGCTGCCAGCACCTTGGGATCCTGTGCCTTTGCAGCCGCTGCTCTGGCACTCGAGTTCCTTCCCTCTTGCCACACCAGGACAGTGTCCCCCCTGCTTCTGCCAGAGCTACTACCCCTTCCTTTTCTTTTGTACAGACCGAGCCCTTCCATCCCCCGGAGCAGGCCTCGTCAACGCAGCAGGACCAGGGCCTCCTGAACCGGCCGTCTGCCTTCAGTACAGTCCAGAGCAGCACTGCCGGCAACACGCTCCGCAACCTCAGTCTGGGTCCTACCCGCCGCTCTTTGGGAGGGCCTCTGTCTAGCCACCCTTCTAGGTATCACCGAGAAATAGCTCCTGGGTTGACAGGATCTGAGTGGACCCGGACAGTACTCAGTCTGAACTCCCGCTCTGAGGCGGAATCCATGCCCCCGCCCAGAACCAGTGCCTCTTCGGTGAGTTTGCTGTCTGTGCTGAGACAGCAGGAAGGTGGCTCTCAGGCATCTGTGTACACTTCAGCCACAGAAGGGAGGGGTTTTCCGGCATCAGGGTTGGCAACTGAGTCAGATGGAGGGAATGGCTCCAGCCAAAACAACTCGGGCAGCATTCGCCATGAGCTTCAGTGTGACCTGAGACGCTTCTTTCTGGAGTATGACCGGCTTCAGGAGCTGGATCAGAGCCTGAGTGGGGAAGCTCCCCAGACCCAACAGGCCCAGGAAATGCTCAACAATAACATTGAATCTGAGAGGCCAGGCCCTTCCCACCAGCCCACCCCACACAGCAGTGAGAACAACTCCAACCTGTCCCGTGGCCACCTGAATCGCTGTCGTGCTTGCCACAATCTCCTGACCTTCAACAACGATACCCTGCGCTGGGAAAGAACCACACCTAACTACTCCTCTGGCGAGGCTAGTTCCTCTTGGCAGGTCCCCAGCTCCTTTGAGAGTGTGCCATCAAGTGGCAGCCAGTTGCCACCTCTCGAGCGGACTGAGGGCCAAACGCCCAGCTCCAGCAGGCTGGAGTTGAGCAGCTCTGCTAGTCCGCAGGAGGAGAGGACTGTGGGGGTGGCCTTTAACCAGGAGACAGGCCACTGGGAAAGAATTTACACCCAGTCCAGCAGATCTGGAACTGTGTCACAGGAGGCCTTACATCAGGATATGCCTGAGGAGAGCTCTGAGGAGGATTCACTCAGGAG___GAGGCTG)CTGGAATCTTCCCTCATTTCATTATCCCGTTATGATGGAGCAGGATCCAGAGAGCACCCAATTTACCCAGACCCAGCGAG___ATTATCTCCTGCTGCATACTACGCCCAGAGGATGATCCAGTATCTCTCACGGAGAGACAGTATTCGCCAGCGCTCCATGCGCTACCAACAGAACCGTCTCCGTTCTTCCACCTCCTCCTCTTCCTCAGACAACCAGGGTCCATCAGTAGAGGGAACCGACTTGGAATTTGAGGACTTTGA|GTTGACTGGATACACCATATCTCTTCACTCACTCAAAGACCCAAACTGATGGAGAAGTAAACATCCCTACCAGTCACAGTGGCAGAAGGAAAGAAAGCTTTGAAGTGTCTTCAACTGGAAATCAAATTCTCCATCCTAGAAGAGACGATCATTATTTCCTTAATGATTAATTATTTACAACTTGTGGACCCGGAGTCATTATATGACCTACCCC MKVVPEKNAVRILWGRERGARAMGAQRLLQELVEDKTRWMKWEGKRVELPDSPRSTFLLAFSPDRTLLASTHVNHNIYITEVKTGKCVHSLIGHRRTPWCVTFHPTISGLIASGCLDGEVRIWDLHGGSESWFTDSNNAIASLAFHPTAQLLLIATANEIHFWDWSRREPFAVVKTASEMERVRLVRFDPLGHYLLTAIVNPSNQQGDDEPEIPIDGTELSHYRQRALLQSQPVRRTPLLHNFLHMLSSRSSGIQVGEQSTVQDSATPSPPPPPPQPSTERPRTSAYIRLRQRVSYPTAECCQHLGILCLCSRCSGTRVPSLLPHQDSVPPASARATTPSFSFVQTEPFHPPEQASSTQQDQGLLNRPSAFSTVQSSTAGNTLRNLSLGPTRRSLGGPLSSHPSRYHREIAPGLTGSEWTRTVLSLNSRSEAESMPPPRTSASSVSLLSVLRQQEGGSQASVYTSATEGRGFPASGLATESDGGNGSSQNNSGSIRHELQCDLRRFFLEYDRLQELDQSLSGEAPQTQQAQEMLNNNIESERPGPSHQPTPHSSENNSNLSRGHLNRCRACHNLLTFNNDTLRWERTTPNYSSGEASSSWQVPSSFESVPSSGSQLPPLERTEGQTPSSSRLELSSSASPQEERTVGVAFNQETGHWERIYTQSSRSGTVSQEALHQDMPEESSEEDSLRRRLLESSLISLSRYDGAGSREHPIYPDPARLSPAAYYAQRMIQYLSRRDSIRQRSMRYQQNRLRSSTSSSSSDNQGPSVEGTDLEFEDFe|ltgytislhslkdpn* 05BR043 ENSG00000008513.16 ENSG00000253583.1 -/- +/+ chr8:133571693 chr8:63588823 5'UTR/splice-site exon/splice-site inversion 2 3 0 103 7 high . . . . . ENSG00000008513.16 ENSG00000253583.1 ENST00000399640.3 ENST00000523265.1 upstream upstream duplicates(1) ^(CCCGCCTCCTCGCTTCCTCGGCTCCAGCCTCCGCCGGCGGAGCCCACTATGCCAGACAGTTTCGACACTTTGCAAAGACAAAGAGCCCTAGACCGGAGGGA)GGAGGAGGAGGAAGAAGAGCGGAGAGAGAAGGAAGAGGCGATGTGAGCTGGGAAGGGGGCAAGTGTCCGGGACACCCACACCCCTGTATTCTCCTCCGAACCCCTTCATGCCCAAATCCCGGAAACTCCAGCGTGTCTCCAGCCGTG|GAATACATGGTTTCAGGCCTCATGTTTAAGTCTCTGGTAGTTCTTTATAGCAATGCAAGAACGGACTAATACACCTGGACACTGATCTCATCTGGTGAAAGACTGTGGGTAATCAAAGCATTTCTGCGGAGTGGTTGCAAGGCATGCCTGCGACGAGACAG(GTTGTTGGCAGTGAGTGAGTGTAGCATTGTTCTTTCTCAAGATTGCTTTAGCTGTCTTCTTGATCTTGTGGTTCCATGTAAATTTTATGGTTTCATACAATTTTTAATATTACTTTTTTTGTTTCTGTAAATAAATGTCATTGAAATTTTAACAGAGATTGCATTCAGTCTGTAAATTGCTTTGGGTAGCATGGACATTTTAACAATATTAATTGTTCCAGTCCATAAACATAGGACATCTTTCCATTTATTTGTGTCTACTTCAAATTCTTTCATCCACGTTTTACAGTTTTCAGTGTACAGATTTTTCACCTCCTTTGTTAAATTTATTCTTTGTTACTTTATTCTTTCTGACACTGTTGTAAATGGAACTTTATAAAGAATAATATGTTTCGGGTGTTTATTAAATATAGAAACACAGCTGA)$ . 05BR043 ENSG00000198929.13 ENSG00000162739.14(8265),ENSG00000234425.1(5546) +/+ ./+ chr1:162154476 chr1:160531527 CDS/splice-site intergenic duplication 3 1 0 22 7 high out-of-frame . . . . ENSG00000198929.13 . ENST00000361897.10 . downstream upstream duplicates(1) ^(ACAGGAGGAGCCGCTCGCTGGCGGCTGATCCAGCGTCTCCGTGACAGGCACCCTGCTCCGCCGCCACCGCCACCGCCACCGCCACCGTCGCCTTTTCTTCTTCGTCCCGGGCGGTGCGTTCCACTGCTCTGGGGCCGGCGCCGCGCCCAGTCCCGCTTCGGGCCGCAAGCCCCACCGCTCCCCTCCCCGGGCAGGGGCGCCGCGCAGCCCGCTCCCGCCGCCACCTCCTCCCCTGCCGCCCTCCTAGCCGGCAGGAATTGCGCGACCACAGCGCCGCTCGCGTCGCCCGCATCAGCTCAGCCCGCTGCCGCTCGGCCCTCGGCACCGCTCCGGGTCCGGCCGCCGCGCGGCCAGGGCTCCCCCTGCCCAGCGCTCCCAGGCCCCGCCACGCGTCGCCGCGCCCAGCTCCAGTCTCCCCTCCCCGGGGTCTCGCCAGCCCCTTCCTGCAGCCGCCGCCTCCGAAGGAGCGGGTCCGCCGCGGGTAACCATGCCTAGCAAAACCAAGTACAACCTTGT)GGACGATGGGCACGACCTGCGGATCCCCTTGCACAACGAGGACGCCTTCCAGCACGGCATCTGCTTTGAGGCCAAG___TACGTAGGAAGCCTGGACGTGCCAAGGCCCAACAGCAGGGTGGAGATCGTGGCTGCCATGCGCCGGATACGG|CCTGCCGAATGCCTGGGATTCCAGGCATGTGCTGCCACACCTGACTGGTTTTTGTATTTTTGGTGGAGACGGGGTTTTGCCGTGTTGACTGGGCTGGTCTCCAGCTCCTGACCTCGAG MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPRPNSRVEIVAAMRRIR|paeclgfqacaatpdwflyfwwrrgfavltglvsss* 05BR043 ENSG00000175697.10 ENSG00000113924.12 -/- -/- chr3:120285029 chr3:120675863 5'UTR/splice-site CDS/splice-site duplication 3 1 0 5 13 high . . |homogentisate_1_2-dioxygenase(100%) . . ENSG00000175697.10 ENSG00000113924.12 ENST00000464295.5 ENST00000283871.10 upstream downstream duplicates(1) ^GGGGACCGTGGGCGTCCTGCACATAGCAGCGGGCTTGGCGCTTCTCGGCGGTCCGACGCTGATGAG|TACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAG___AATAATCCTCAGGTCTGCCCCTACAATCTCTATGCTGAGCAGCTCTCAGGATCGGCTTTCACTTGTCCACGGAGCACCAATAAGAGAAG___CTGGCTGTATAGGATTCTACCTTCAGTTTCTCACAAGCCCTTTGAATCCATTGACGAAGGC(CAAGTCACTCACAACTGGGATGAAGTTGATCCTGATCCTAACCAG___CTTAGATGGAAACCATTTGAGATTCCAAAAGCATCTCAGAAGAAAGTAGACTTTGTGAGT___GGCCTGCATACCTTGTGTGGAGCTGGAGACATAAAGTCTAACAATGGGCTTGCTATCCACATTTTCCTCTGCAATACCTCCATGGAGAACAG___ATGCTTTTACAATTCAGATGGGGACTTCTTGATTG___TTCCGCAGAAAGGGAACCTTCTCATTTACACCGAGTTTGGCAAGATGCTTGTACAGCCCAATGAGATCTGCGTCATTCAG___AGAGGAATGCGGTTCAGCATAGATGTCTTTGAGGAGACCAGGGGCTACATCTTGGAGGTCTATGGTGTCCACTTTGAGTTACCTGACCTTGGACCAATTG___GGGCCAATGGCTTGGCCAATCCTCGTGATTTCTTGATACCCATTGCCTGGTATGAGGATCGCCAAGTACCAGGTGGTTACACGGTCATTAATAAATACCAGGGCAAGCTGTTTGCTGCCAAACAG___GATGTCTCCCCGTTCAATGTTGTGGCCTGGCACGGGAATTATACACCCTACAAGTACAACCTGAAGAATTTCATGGTTATCAACTCAGTGGCCTTTGACCATGCA___GACCCATCCATTTTCACAGTATTGACTGCTAAGTCTGTCCGCCCTGGAGTGGCCATTGCTGATTTTGTCATCTTCCCACCTCGATGGGGGGTTGCTGATAAGACCTTCAGGCCTCCTTATTACCATA___GGAACTGCATGAGTGAGTTCATGGGACTCATCCGAGGTCACTATGAGGCAAAGCAAGGTGGGTTCCTGCCAGGGGGAGGGAGTCTACACAGCACAATGACCCCCCATGGACCTGATGCTGACTGCTTTGAGAAGGCCAGCAAGGTCAAGCTGGCACCTGAGAGGATTGCCGATGGCACCATG___GCATTTATGTTTGAATCATCTTTAAGTCTGGCGGTCACAAAGTGGGGACTCAAGGCCTCCAGGTGTTTGGATGAGAACTACCACAAGTGCTGGGAGCCACTCAAGAGCCACTTCACTCCCAACTCCAGGAACCCAGCAGAACCTAATTGAGACTGGAACATTGCTACCATAATTAAGAGTAGATTTGTGAAGATTTCTTCAGAATCTCATGCTTTCTGGTAGTATTGGAGGAGGGGGTTGGTTAAAATGAAAATTCACTTTTCATAGTCAAGTAACTCAGAACTTTTATGGAAACGCATTTGCAAAGTTCTATGGCTGTCACCTTAATTACTCAATAAACTTGCTGGTGTTCTGTGGA)$ . 05BR043 ENSG00000073711.11 ENSG00000261826.1(32254),ENSG00000224085.3(2157) +/+ ./+ chr3:136003493 chr3:140900037 CDS/splice-site intergenic deletion 1 2 1 125 11 high out-of-frame . . . . ENSG00000073711.11 . ENST00000264977.8 . downstream upstream duplicates(3),mismappers(2) ^(GCGCTCGGGCCTCCGCTCTTCACGCGCCGCATTCGTAGCCCGAGAGTCCGCGCCGCGGGGAGGCTTGGAGGCAAGCGCTGCCCGCGAGCTGAGCCGCCGGAGGAGGAGCCGCGGGCAACGAG___GTTTCTCTGTCATTCACAGAAAAATGAATCATTTAAACCTTTGGAGGACTCAGTTATCACAATACTTCTCTACTACCAACTAAGATTTATGATAGTAAATTTATGAGAGCAAATTTCCATGTTATAGAACTGTTGAAGAACTAAAAGAGGATATTCTTTCATCAAAATAATTCTGCAGTATCATAATATTACTAAATAAAATTAAAAAGCACAATTATTAAATTATTAAATTTGCCACACATGTGCAGCAGCTACTGTATCCTGATAGTGACCAAACCTCAAATATAAATGGTTTCCCTTCATGGGAAAAGCCATTATATTTGGAAGAAACCACTGAACATTGTTATTAAATATATTTTCAGCTAACTGTCATTTAGGAGAATTTTCATGAAACAAGTTCTAGAAAGTTCCAAGTCCCACCAGTAAGTGGATTTGATATTATGGCAGCAACTTACAGACTTGTGGTTAGTACTGTGAACCACTACAGCAGCGTGGTGATAGACCGGCGTTTTGAACAAGCTATACATTATTGCACTGGAACCTGCCACACCTTCACACATGGAATTGACTGCATTGTGGTACACCATAGTGTTTGTGCAGACCTCTTGCACATCCCTGTGTCTCAGTTCAAAGATGCAGATCTGAACTCTATGTTTCTACCCCATGAAAATGGGCTTTCTTCGGCTGAAGGAGACTATCCCCAACAGGCCTTCACAGGCATACCCAGGGTCAAGAGAGGATCTACATTTCAGAATACCTACAACTTAAAGGATATTGCAGGAGAAGCAATCAGTTTTGCCAGTGGGAAAATAAAAGAATTTTCCTTTGAAAAACTCAAAAACTCTAACCATGCAGCTTACAGAAAGGGAAGGAAAGTTAAGTCTGACTCATTTAATAGGAGGTCAGTTGATTTGGACTTGCTTTGTGGCCATTATAACAACGATGGGAACGCCCCATCCTTTGGTTTACTGCGGAGTTCCTCAGTTGAGGAAAAACCTTTGTCTCATAGAAACTCACTGGATACGAACCTGACTTCCATGTTTCTTCAAAACTTTTCTGAAGAAGACTTGGTTACTCAGATTTTGGAAAAACATAAAATAGATAATTTTTCTTCTGGGACAGACATAAAGATGTGCTTGGACATCTTATTGAAATGCTCCGAGGATTTAAAAAAATGCACAGACATCATAAAACAATGCATAAAGAAAAAATCAGGGAGTAGCATCAGTGAAGGAAGTGGTAATGATACAATTTCTAGCTCTGAAACTGTCTATATGAATGTAATGACCAGGTTAGCATCCTATCTGAAAAAGTTACCATTTGAATTCATGCAGTCTGGGAATAATGAGGCTCTAGATTTAACAGAACTGATCAGTAATATGCCTAGCTTACAACTGACTCCCTTCTCCCCAGTGTTTGGCACTGAACAACCCCCTAAATATGAAGATGTTGTCCAGCTCTCAGCTTCTGACTCTGGACGATTTCAAACTATTGAATTGCAAAATGACAAGCCTAATTCTAGGAAGATGGACACTGTACAATCCATTCCAAACAACTCCACAAATTCCTTATATAACTTAGAGGTAAATGATCCTAGAACTCTAAAAGCTGTCCAGGTCCAATCACAGTCATTAACCATGAATCCTTTAGAAAATGTTTCTTCTGACGACTTAATGGAAACTCTTTATATTGAAGAAGAGTCAGATGGAAAGAAAGCATTAGATAAAGGACAAAAGACAGAGAATGGACCTAGTCATGAGTTATTAAAGGTAAATGAACATAGAGCAGAATTTCCAGAACATGCTACTCATCTTAAAAAATGCCCCACCCCAATGCAAAATGAAATTGGTAAGATATTTGAGAAATCATTTGTTAATCTACCTAAGGAAGACTGTAAATCAAAAGTTTCTAAATTTGAAGAGGGAGACCAGAGAGATTTTACAAATTCCAGTAGCCAGGAAGAGATAGATAAATTGTTAATGGATTTGGAATCTTTTTCACAGAAGATGGAGACCTCTCTAAGAGAGCCACTTGCGAAGGGTAAAAACTCTAATTTTTTAAATAGTCACAGTCAGTTGACCGGTCAGACCCTTGTAGATCTTGAGCCTAAATCTAAAGTCTCTTCACCCATAGAAAAAGTCTCACCTTCCTGTCTAACAAGGATTAT)TGAAACCAATGGACACAAAATAGAGGAAGAGGATCGAGCCCTCTTACTGCGAATCCTGGAAAGCATTGAAGACTTTGCTCAAGAACTAGTTGAATGCAAATCAAGCAGAGGGAGCCTATCACAAGAAAAGGAAATGATGCAAATTCTACAGGAAACCTTGACAACTTCCTCCCAGGCCAATTTATCAGTCTGTAGAgGTCCTGTTGGTGATAAAGCCAAAGATACTACTTCAGCAGTTTTGATTCAGCAGACTCCAGAGGTGATCAAG|ACAGAGTCTCTCTGTGTCACCAGGCTGGAGTGCAGTGGCACgATCTCAGCTCACTGCAACCTCTGCCTCCCAAATTCAAGCGATTCTCCTGCCTCAGCCTCATGAGTAGCTGGGATTACAGGTACCCACCACCACGCCCGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGACTCAGCCTCCTAAAATGCTG MAATYRLVVSTVNHYSSVVIDRRFEQAIHYCTGTCHTFTHGIDCIVVHHSVCADLLHIPVSQFKDADLNSMFLPHENGLSSAEGDYPQQAFTGIPRVKRGSTFQNTYNLKDIAGEAISFASGKIKEFSFEKLKNSNHAAYRKGRKVKSDSFNRRSVDLDLLCGHYNNDGNAPSFGLLRSSSVEEKPLSHRNSLDTNLTSMFLQNFSEEDLVTQILEKHKIDNFSSGTDIKMCLDILLKCSEDLKKCTDIIKQCIKKKSGSSISEGSGNDTISSSETVYMNVMTRLASYLKKLPFEFMQSGNNEALDLTELISNMPSLQLTPFSPVFGTEQPPKYEDVVQLSASDSGRFQTIELQNDKPNSRKMDTVQSIPNNSTNSLYNLEVNDPRTLKAVQVQSQSLTMNPLENVSSDDLMETLYIEEESDGKKALDKGQKTENGPSHELLKVNEHRAEFPEHATHLKKCPTPMQNEIGKIFEKSFVNLPKEDCKSKVSKFEEGDQRDFTNSSSQEEIDKLLMDLESFSQKMETSLREPLAKGKNSNFLNSHSQLTGQTLVDLEPKSKVSSPIEKVSPSCLTRIIETNGHKIEEEDRALLLRILESIEDFAQELVECKSSRGSLSQEKEMMQILQETLTTSSQANLSVCRgPVGDKAKDTTSAVLIQQTPEVIK|teslcvtrlecsgtisahcnlclpnssdspasas* 05BR043 ENSG00000008513.16 ENSG00000287844.1 -/- +/+ chr8:133571693 chr8:63691731 5'UTR/splice-site exon/splice-site inversion 1 3 0 103 26 high . . . . . ENSG00000008513.16 ENSG00000287844.1 ENST00000399640.3 ENST00000662470.1 upstream upstream . ^(CCCGCCTCCTCGCTTCCTCGGCTCCAGCCTCCGCCGGCGGAGCCCACTATGCCAGACAGTTTCGACACTTTGCAAAGACAAAGA)GCCCTAGACCGGAGGGAGGAGGAGGAGGAAGAAGAGCGGAGAGAGAAGGAAGAGGCGATGTGAGCTGGGAAGGGGGCAAGTGTCCGGGACACCCACACCCCTGTATTCTCCTCCGAACCCCTTCATGCCCAAATCCCGGAAACTCCAGCGTGTCTCCAGCCGTG|GCTGAAATAATCGTGTACCTGGACTATCTGCGGCTGCCTTTTCCAGCACCTTCCTGTGGACTGCTCCAGGGCACTCTCTAGAAGTCAGAATGGACTCCTGCTGATTCTCTCGCATATTTGTCTTGAATAAAAGAATGGTGTATGCCAGTGGATTTCAAAGCTTCTCACAAAACATCTCCACATCTGAAGTCTCAAGAGTTTATGTCAAGC(ATTTGTATTACTTACAACTAATTAAATATACCATTCCTGTTTTACAACATGAACACATTTGCTGATAATGTTGTAACTTGTATTATTATTATTTGTTTGAAACAATACATTAATAATTAATGACTGGTCAGTAATATAATACTAATATCTTGACCTATTTAGAATAGACATTAATTATCACATGTATAGAAAATAGTGTGATTTTAAATTTTTTTTCACAAAAAATAATTTGGAAGCATGTTAAAGTGCCTTATTTCCATATTATTTATTTACGTGATTTGGAGAATATTGTTTAAAGTTTTATTTTACAAGACTAAGCAGACTGTCAAAAAAGGTAGATTATGAATACTAAAGAAAAGGCAAGAGAGTTGGCATTTAGAAGTTAATTGTAGTGATTTGTTGAGGTTATCTAAGGGAAAATACCTGATGACCCCATTATTGGATTTGAATATAAAAATGCTGGATGCATTATATGTGGCAGCCTGAGATCTATTCTTCTTATCAGAGAGATATAAAATTACCGAGATTTAACTGAAGGCAGCTGTCAAACTCTGTAAAAGAACTGATATTCTTCAGAGGAGTGCAAATTCTATGTCAAAGACACAAAACAGATTCTTATTGCTTAATAATCTCCCACAGTTCAATAGTGACAGAAATTGGTTTCCTTTTTGCCCCCTACCCCTACTGTCTTATTTCTACAATTTTCTCTACAGTTACCAGTTTTGGGATGACTGATTCTGGTGTTTACTATATGATCACTTGATCAATGGAGACCTGCCCATCCTGCTTCTGACTATCGTGATGTCATAGTAGAGCTGCTTTAGATGAATCCGAAGTACTCACTCCTTTCTCCAATTTCTTCTTATCTGGTTTAAGAAAACAGTAACTTATTTTTGGCAGAGTCTATCAAAAATGAGAGGAATTGTCTATAGTATAATTTTAGTTTGAGTACAGAGAATAATAAAAATTATTGCTAAAATAAAATCTGATTTATCTAAGTATCAACTCTATTTAACTTTTTCTTTAATAACGTAACTATTTTATGCTGCATAAAGCAGAATACAGGTTCCAGTGCTCGTTTGGCCACTTAGAACCTCATCTTCTTTATCTATAAAATGGAAATACAAAAACTGTGTTGGGTTTAATAGGGAAAATAAAATAATGTACAGGAGAATATCATGTAATAATGTTTTATAGAAAAAATAATTATTTTATCTGTTAGAAGATTTTTTTCTTGTCAGTTAATGCATTACTAATGATTTACTTTTAAAAAATTAAATATGCTAAAAAAGTAAATAAGTCAAAGCCA)$ . 05BR043 ENSG00000138316.11 ENSG00000112699.11 +/+ -/- chr10:70674995 chr6:1742586 CDS/splice-site CDS/splice-site translocation 3 1 0 15 297 high in-frame . Reprolysin_family_propeptide(100%)|GDP-mannose_4_6_dehydratase(100%) . . ENSG00000138316.11 ENSG00000112699.11 ENST00000373207.2 ENST00000380815.5 downstream downstream duplicates(2) ^(ACTGCGCGGGCGGGCTGACCGACCAGCCGGCAGTTGGCACCGGGTGCGCTGGCGCGTCAGTGGCCCCGCTCTCCAGCCGGCAGCCTCGCGCGCCCGGAGCCAGCGGTCCAGGCGGCGGCGCCGCGCAGGGGACCCGGAGCAGGCGGGAGGGAAGCAGCTAGGCGGGGAGGCGGCTGAGGCGGCAGCGGCGGCAGCCAGCCGGTGCTCCGACAGCCCGGGGCGCACCCTAGCCTCGCCGCCCTCAGCCTGGGACTTGGGGATCGGGCGCTTGCCCAGCCCGCGTCCCAGCGCGGCCACATGGCTCCACTCCGCGCGCTGCTGTCCTACCTGCTGCCTTTGCACTGTGCGCTCTGCGCCGCCGCGGGCAGCCGGACCCCAG___AGCTGCACCTCTCTGGAAAGCTCAGTGACTATGGTGTGACAGTGCCCTGCAGCACAGACTTTCGGGGACGCTTCCTCTCCCACGTGGTGTCTGGCCCAGCAGCAGCCTCTGCAGGGAGCATGGTAGTGGACACGCCACCCACACTACCACGACACTCCAGTCACCTCCGGGTGGCTCGCAGCCCTCTGCACCCAGGAGGGACCCTGTGGCCTGGCAGGGTGGGGCGCCACTCCCTCTACTTCAATGTCACTGTTTTCGGGA)AGGAACTGCACTTGCGCCTGCGGCCCAATCGGAGGTTGGTAGTGCCAGGATCCTCAGTGGAGTGGCAGGAGGATTTTCGGGAGCTGTTCCGGCAGCCCTTACGGCAGGAGTGTGTGTACACTGGAGGTGTCACTGGAATGCCTGGGGCAGCTGTTGCCATCAGCAACTGTGACGGATTG|GCTATGTGGTTGATGTTGCAGAATGATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTGCACATTGGAAAAACCATTGT___GTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGtATCTCAAGTACTACCGGCCAACTGAAGTG___GAC(TTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGAT___GAGCTGGTGAGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCCGCCCTCCGGCTACAATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCCCCTGCTGCCGCTGCGCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGTCGCTTTGCGTTTGTCGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTACACAACAAATTGTGGGGCCTTCAAATTGTTTTTCTCTTTTCATATTAAAAATGGTCTTTCTGTGAACTAGCA)$ MAPLRALLSYLLPLHCALCAAAGSRTPELHLSGKLSDYGVTVPCSTDFRGRFLSHVVSGPAAASAGSMVVDTPPTLPRHSSHLRVARSPLHPGGTLWPGRVGRHSLYFNVTVFGKELHLRLRPNRRLVVPGSSVEWQEDFRELFRQPLRQECVYTGGVTGMPGAAVAISNCDGL|AMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKVHVTVyLKYYRPTEVDFLQGDCTKAKQKLNWKPRVAFDELVREMVHADVELMRTNPNA* 05BR043 ENSG00000163904.13 ENSG00000287915.1(82611),ENSG00000182718.17(41251) +/+ ./+ chr3:185600855 chr15:60305883 CDS/splice-site intergenic translocation 1 2 0 165 22 high out-of-frame . . . . ENSG00000163904.13 . ENST00000296257.10 . downstream upstream . ^(ACAAATCAGCGACCGAACTCTGGCGGTGGTGGTTAAGACGGCGAAGGCGGCAGCGGCGGCGACAGCTCTGGGGTTTGCGTCTCGGGGTGTGTCGGCCGCCGCTGCTGCTTGGGCCTGGTATGTACAGATGGCTGGTTAGGATTCTCGGCACCATTTTCCGTTTCTGCGACCGGTCGGTGCCCCCTGCCCGGGCCCTCCTGAAGAGGCGGCGCTCAGACAG___CACTCTGTTTTCTACAGTGGACACTGATGAAATACCAGCCAAAAGACCAAGATTAG___ATTGCTTTATTCACCAAGTGAAAAACAGTCTCTACAATGCTGCCAGCTTATTTGGATTCCCATTCCAGCTGACCACAAAGCCCATGGTAACTTCTGCTTGTAATGGAACACGGAATGTGGCCCCTTCAGGAGAG___GTATTTTCGAACTCTTCATCTTGTGAACTGACAG)GTTCTGGATCCTGGAACAACATGCTGAAACTGG___GTAATAAATCTCCTAATGGAATAAGTGACTATCCAAAGATCAGAGTGACAGTTACCCGAGATCAGCCACGCAGAGTCCTGCCTTCCTTTGG|GTTCCACCTGCAACATTGGAGATTACATTTCCACGTGATATTTGGGTAAGGAC...___GTGTTTGTATTTCCTTTCAGAGTGAAGATATCCTCAAATGTCTAGTGATCCTTAACTGTCTGTTCACaTTTAAGACTACAG MYRWLVRILGTIFRFCDRSVPPARALLKRRRSDSTLFSTVDTDEIPAKRPRLDCFIHQVKNSLYNAASLFGFPFQLTTKPMVTSACNGTRNVAPSGEVFSNSSSCELTGSGSWNNMLKLGNKSPNGISDYPKIRVTVTRDQPRRVLPSFg|fhlqhwrlhfhvifg* 05BR043 ENSG00000150760.12 ENSG00000107518.18 +/+ +/+ chr10:127127764 chr10:115265193 CDS/splice-site CDS/splice-site duplication 1 1 1 55 9 high out-of-frame . C2_domain_in_Dock180_and_Zizimin_proteins(100%),DOCK_N-terminus(100%),Variant_SH3_domain(100%)|Kelch_motif(100%),Lectin_C-type_domain(100%),Plexin_repeat(100%) . . ENSG00000150760.12 ENSG00000107518.18 ENST00000280333.9 ENST00000355044.8 downstream upstream duplicates(1) ^(CTCCGCCGCAAACTTTTTCCTCCCCATCCTGTCGCGGCTCGAAAGGAATGGAAAATGGCGGCCTAGACGCGGAGTTTCCTGCCCGACCCGCGGCGGCTCCGGCGGCGCCATGACGCGCTGGGTGCCCACCAAGCGCGAGGAGAAGTACGGCGTGG___CTTTTTATAACTATGATGCCAGAGGAGCGGATGAACTTTCTTTACAGATCGGAGACACTGTGCACATCTTAGAAACATATGAAG___GGTGGTACCGAGGTTACACGTTACGAAAAAAGTCTAAGAAG___GGTATATTTCCTGCTTCATATATTCATCTTAAAGAAGCGATAGTTGAAGGAAAAGG___GCAACATGAAACAGTCATCCCGGGTGACCTCCCCCTCATCCAGGAAGTCACCACGACACTCCGAGAGTGGTCCACCATCTGGAGGCAGCTCTACGTG___CAAGATAACAGGGAGATGTTTCGAAGTGTGCGGCACATGATCTATGACCTTATTGAATGGCGATCACAAATTCTTTCTGGAACTCTGCCTCAGGATGAACTCAAAGAACTGAAGAAGAAGGTCACAGCCAAAATTGATTATGGAAACAG___AATTCTAGATTTGGACCTGGTGGTTAGAGATGAAGATGGGAATATTTTGGATCCAGAATTAACTAGCACGATTAGTCTCTTCAGAGCTCATGAAATAGCTTCTAAACAAGTGGAGGAAAGGTTACAAGAGGAAAAA___TCTCAAAAGCAGAACATAGATATTAACAGACAAGCCAAGTTTGCTGCAACCCCTTCTCTGGCCTTGTTTGTGAACCTCAAAAATGTGGTTTGTAAAATAGGAGAAGATGCTGAAGTCCTCATGTCTCTATATGACCCTGTGGAGTCCAAATTCATCAG___TGAGAACTACCTGGTTCGCTGGTCCAGTTCAGGATTACCTAAAGACATAGACAGATTACATAATTTGCGAGCCGTGTTTACT___GACCTCGGAAGCAAAGACCTGAAAAGGGAGAAAATCAGTTTTGTCTGTCAGATTGTTCGCGTGGGTCGCATGGAGCTGAGGGACAACAACACCAGGAAACTGACCTCGGGGTTGCGGCGACCTTTTGGAGTGGCTG___TGATGGATGTAACAGATATAATAAATGGAAAAGTAGATGATGAAGATAAGCAGCATTTCATTCCCTTTCAGCC___GGTGGCAGGGGAGAATGACTTCCTTCAGACTGTTATAAACAAAGTCATCGCTGCCAAAGAAGTCAACCACAAGGGGCAGG___GTTTGTGGGTAACATTGAAATTACTTCCTGGAGATATCCATCAGATCCGAAAAGAGTTTCCGCATTTAGTGGACAGGACCACAGCTGTGGCTCGAAAAACAGGGTTTCCGGAGATAATCATGCCTG___GTGATGTTCGAAATGATATCTATGTAACATTAGTTCAAGGAGATTTTGATAAAGGAAGCAAAACAACAGCGAAGAACGTGGAGGTCACGGTGTCTGTGTACGATGAGGATGGGAAACGATTAGAG___CATGTGATTTTCCCGGGTGCTGGTGATGAAGCGATTTCAGAGTACAAATCTGTGATTTACTACCAAGTAAAGCAGCCACGCTGGTTTGAGACTGTTAAG___GTGGCCATTCCCATCGAGGACGTTAACCGCAGTCACCTTCGGTTTACCTTCCGCCACAGGTCATCACAGGACT___CTAAGGATAAATCTGAGAAAATATTTGCACTAGCATTTGTCAAGCTGATGAGATACGATGGTACCACCCTGCGAGACGGAGAGCACGATCTTATCGTCTATAAG___GCCGAAGCAAAGAAGCTGGAAGATGCTGCCACGTACTTGAGTCTGCCCTCCACGAAGGCAGAGTTGGAAGAAAAGGGCCACTCGGCCACCGGCAAGAGCATGCAGAGCCTTGGGAGCTGCACCATTAGCAAGGACTCCTTCCAGATCTCCACGCTCGTGTGCTCCACCAAACTGACTCAGAACG___TGGACCTTCTGGGGCTCTTGAAATGGCGCTCCAACACCAGCCTGCTGCAGCAGAACTTGAGGCAGCTGATGAAAGTCGATGGTGGTGAAGTAGTGAAG___TTTCTTCAGGACACGTTGGATGCCCTCTTCAACATCATGATGGAGAACTCAGAGAGTGAGACTTTTGACACGTTAGTCTTTGATGCTCTG___GTATTTATCATTGGACTGATTGCTGATAGAAAATTTCAGCATTTTAATCCTGTTTTGGAAACTTACATTAAGAAACACTTTAGTGCAACGTTAGCCTACAC___GAAGTTGACAAAAGTGTTGAAGAACTACGTGGACGGTGCTGAGAAGCCGGGAGTAAATGAGCAGCTGTACAAAGCCATGAAAGCGCTAGAATCCATCTTCAAGTTCATCGTGCGCTCCAGGATCCTGTTCAATCA___ACTGTATGAAAACAAGGGAGAGGCTGACTTCGTGGAATCTTTGCTGCAGCTCTTCAGGTCCATCAATGACATGATGAGCAGCATGTCAGACCAGACCGTCCGGGTGAAG___GGGGCAGCACTGAAATACTTACCAACGATCGTCAACGATGTGAAATTGGTGTTTGATCCCAAAGAGCTCAG___CAAAATGTTTACTGAATTCATCCTCAATGTTCCCATGGGCTTGCTGACCATCCAGAAACTCTACTGCTTGATCGAAATCGTCCACAGTGACCTCTTCACACAGCATG___ACTGCAGAGAGATCCTGCTTCCCATGATGACCGATCAGCTCAAGTACCATCT)GGAGAGACAGGAGGACCTGGAGGCCTGCTGTCAGCTGCTCAGCCACATCCTGGAGGTGCTGTACAGGAAGGACGTG___GGGCCAACCCAGAGGCACGTCCAGATTATCATGGAGAAACTTCTCCGGACCGTGAACCGAACCGTCATTTCCATGGGACGgGATTCTGAACTCATT|CTTGTGATGAATGGAAAATACTACCAAAACCAAATCTTCATAGAGATGTCAACAGATTTGGACACTCTGCAGTAGTCATTAACGG___GTCCATGTATATATTTGGGGGATTTTCTAGTGTAC(TCCTTAATGATATCCTTGTATACAAGCCTCCAAATTGCAAGGCTTTCAGAGATGAAGAACTTTGTAAAAATGCTGGTCCAGGGATAAAATGTGTTTGGAATAAAAATCACTGTGAATCTTGGGAATCTGGGAATACTAATAATATTCTTAGAGCAAAGTGCCCTCCTAAAACAG___CTGCTTCTGATGACAGATGTTACAGATATGCAGATTGTGCCAGCTGTACTGCCAATACAAATGGGTGCCAATGGTGTGATGACAAGAAATGCATTTCGGCAAATAGTAACTGCAGTATG___TCTGTCAAGAACTACACCAAATGTCATGTGAGAAATGAGCAGATTTGTAACAAACTTACCAGCTGTAAAAGCTGTTCACTAAACTTGAATTGCCAGTGGGATCAGAGACAGCAAGAATGCCAGGCTTTACCAG___CTCATCTTTGTGGAGAAGGATGGAGTCATATTGGGGATGCTTGTCTTAGAGTCAATTCCAGTAGAGAAAACTATGACAATGCAAAACTTTATTGCTATAATCTTAGTGGAAATCTTGCTTCATTAACAACCTCAAAAGAAGTAGAATTTGTTCTGGATGAAATACAGAAGTATACACAACAG___AAAGTATCACCTTGGGTAGGCTTGCGCAAGATCAATATATCCTATTGGGGATGGGAAGACATGTCTCCTTTTACAAACACAACACTACAGTGGCTTCCTGGCGAACCCAATGATTCTGGGTTTTGTGCATATCTGGAAAGGGCTGCAGTGGCAGGCTTAAAAGCTAATCCTTGTACATCTATGGCAAATGGCCTTGTCTGTGAAAAACCTGTTG___TTAGTCCAAATCAAAATGCGAGGCCGTGCAAAAAGCCATGCTCTCTGAGGACATCATGTTCCAACTGTACAAGCAATGGCATGGAGTGTATGTGGTGCAGCAGTACGAAACGATGTGTTGACTCTAATGCCTATATCATCTCTTTTCCATATGGACAATGTCTAGAGTGGCAAACTGCCACCTGCTCCC___CTCAAAATTGTTCTGGATTGAGAACCTGTGGACAGTGTTTGGAACAGCCTGGATGTGGCTGGTGCAATGATCCTAGTAATACAGGAAGAGGACATTGCATTGAAGGTTCTTCACGGGGACCAATGAAGCTTATTGGAATGCACCACAGTGAGATGGTTCTTGACACCAATCTTTGCCCCAAAGAAAAGAACTATGAGTGGTCCTTTATCCAGTGTCCAG___CTTGCCAGTGTAATGGACATAGCACTTGCATCAATAATAATGTGTGCGAACAGTGTAAAAATCTCACCACAGGAAAGCAGTGTCAAGATTGTATGCCAGGTTATTATGGAGATCCAACCAATGGTGGACAGTGCACAG___CTTGTACATGCAGTGGCCATGCAAATATCTGTCATCTGCACACAGGAAAATGTTTCTGCACAACTAAAGGAATAAAAGGTGACCAATGCCAATT___ATGTGACTCTGAAAATCGCTATGTTGGTAATCCACTTAGAGGAACATGTTATT___ACAGCCTTTTGATTGATTATCAATTTACCTTCAGCTTATTACAGGAAGATGATCGCCACCATACTGCCATAAACTTTATAGCAAACCCAGAACAG___TCGAACAAAAATCTGGATATATCAATTAATGCATCAAACAACTTTAATCTCAACATTACGTGGTCTGTCGGTTCAACAG___CTGGAACAATATCTGGGGAAGAGACTTCTATAGTTTCCAAGAATAATATAAAGGAATACAGAGATAGTTTTTCCTATGAAAAATTTAACTTTAGAAGCAATCCTAACATTACATTCTATGTGTACGTCAGCAACTTTTCCTGGCCTATTAAAATACAG___ATTGCATTCTCACAACACAATACAATCATGGACCTTGTGCAGTTTTTTGTCACCTTCTTCAG___TTGTTTCCTATCCTTATTGCTGGTGGCTGCTGTGGTATGGAAGATCAAACAAACTTGTTGGGCTTCTCGACGGAGAGAG___CAACTGCTTCGAGAACGACAGCAGATGGCCAGCCGTCCCTTTGCTTCTGTTGATGTAGCTCTGGAAGTGGGAGCTGAACAAACAGAGTTTCTGCGAGGGCCATTAGAG___GGGGCACCCAAGCCAATTGCCATTGAACCATGTGCTGGGAACAGAGCTGCTGTTCTGACTGTGTTTCTTTGTCTACCACGAGGATCATCAGGTGCCCCTCCCCCTGGGCAGTCAG___GCCTTGCAATTGCCAGTGCCCTAATAGATATTTCACAACAGAAAGCTTCAGATAGTAAAGATAAGACTTCTGGAGTCCGGAATCGAAAACACCTTTCAACACGTCAAGGAACTTGTGTCTGAGAAATGGAAACCGCTCCTGTATATTCTGTACTGTTTTACTTCGGGCTTCTGTTAAAGCTGTTCTATGGCCTTGGATTTTATGGAGGCAGATCTCTGTATCATCCAGAGCCTGAGTACAGTTTCCTTCCAAATGGACAATGACCCAGGTGGCCAAAGAATGTTCATGAGTTTTATAAAAGTATTGATGGTCACAGGTGATAAAGTCAGTTTTTACCACTATCTTAGGCTTATTATAGCTAACATTAAATTACTCTGGAAAAAGATGTATATTGTTTCTTAATGAAGATGAAAAATATGTAATTCATATAAATCAACTGTTTATATCCCAAGACTTGAAAGAAAGACATTTTTTAATGCCTGAATGATGAGAATTGTACAGTTTTTGCCTCATAAGCAAACTTGAATCACCTGTGTATGAACAGGGAATGAACACATTGCAATGGCTTTAAATGCTCTTTTATCTCGTTGTAAAGGTAAGGCAAGATTTTGATGTAGTAGGATGTAGGTAATGTATTTAAATATTTCATATGACCATATCGTGTCCAAACTCAGTCTGAGAATGTGACAGCTTTCCGCCTAACTAGAATGCAGACCAGAATGAGTTCAACTCATTCTGTGCAACTTCACAGGGGGTTTATTAGAATGCTCAGTGTAGAGGACATTCCTGTCATCCATGCCAACTACCTAACTCGTTATCAGAGCTGATAGAGCATGGAAAAGTCTGTCCAGCGATCAGTTGTTCCCCTCCTTCCAAAAACAGCCTCCAATACCACAACCTGAAAAGAGCCGAAATGGTTATTTTACAGCATACAAGCTTCTGCTCCAGTATGATAATTTTTAATTGCCTAAGAATCATTGGATCAGACCTAAATGATCCATCTGCATTTTTATAAGAATGGATCTTTCTTTGCCCTTCCTCTCCTAGCTGCTAGATTTTAACTACCTTTTACAAATGTTACAAAATGTATTTTAGAGGCGACATCTCTCAAGATGACCTGAGTTCCTTCCTGCCAACTGTTCCACCTAGAATACAAGTAGAGAAGAGCACTGGCTGGCAAGCATCAACAGGAGTCTTCTTCCCAACACGAGCGCATCCATGTCCTGAGAAAAAGTCTGTGGTTTAGAAAATATGTCCATGGTTGCCCACAGTCAGCACACTCTTAGTGACTCAAAATTCTGAATTATGGCAGAAAGGAAAAATAAAACATACTTCACATTAGAACACAGAATCATTTACATCCTAATACTGACCACAGTTCACTAAAGCTCAGTAGCATTAACAGATATAGTTTGGAATTGCAGTTTCCTCACTTCAGGGTGACAAGATATGTATAACAGTGACAGAAATCTCCAAAGCTGCTGTATATGATATAGCTTTGTTAAATATGAAGGTCCTTTAAATACAATTGATGTTTAGTACTATATATGTACTTTTCACATTCTTTGGATTTCTGGAAGGTTATGACACTTTACTGTTTACAGCTAATGCATAGTTACTTGCATGCCATGGTTGTACAGTAGCAGACTATGACCCTATTGTGATATTAAGTGTTTATTTCATAATGCCATTTATACATAGCTGAATTTGATGAGGATTGAATGTCATATATAAGAGGAATGATCATACAATATGTAGTTGCATCTTATATAAGATTTCTAGGTTGCATCTAACCATGACTATGTCATTATTTTGATAATTAGGCATTTATGAATTATAGTATATATTCCTCATGTTGGCATGATAATTTTGCTATTTTCCATGCATTAAAAATAAGACAAATTCTTAGAGTAATTTTAGTAATTTTATCTATAATCTGTGGGGTTTTTTTGGAGGGGGAGGCCACTGGTTGTTTCTACTTCCCTGTGATATTTTCTCTCTCATTAAAGGAATGAGCTAAGTTTGTAAATATCTCCTAAAAACAATCAAGTAATTTTATTAGCTTCTTTTGGACCCTCTAAATATTGACTTCTCTCATGAAAAAATAAATTGATGAAACTAATGATTACAAAGATATAATCATTTTTTAAAAAGTGATTGCCCAATGTATTTCTCTAACAATTGTCACAAGAGAAAGCATAACAATAAAAATACAAAAACATACAGATTTAGATGTAAAATCTATATAAGCTATATTTTTAGGGAGGCTAAGCAGATAGTATTACTGTGGAAGAATTATCAAGTTTTATTCACCTCAAATCCCACTGGGTTCTTAAAACTTGAAAATTCAAATTGTAGAGAATTATGAGACACAATGTGATGTTTAGTTAAAGTCATGCTATACCTTTCTGGGCCACATATTGCTAACTCTGTGGCTAATTATGCAATTAATTCTCAACGTATCAAAGCTTTTCACTGGCAGTAAATTCTTTGCCCTCAGGTGAAGTGGATTGAAAAGACATCAAGGATCAAGGATAATCACTTTGAATCTGTTGGTTTTTCCCCCTACATTCCAGACACTTTAAATTTGGATGCTTTCATTTTTTTTAAATCAAACCACACAAATATGCAGATACTTTCCCAGAATTTCGCAGTTAAATGGCTGATCCTCTTGAAAACTAACCTTAATGGAATTCTAAACATTTCAGTTTAGAATGACTTTGAAAAATTCCTTAGATTTTTAGGATGTTTTATTCTGCCAAGTATGAAAAAAAAATGGTTAAATACAATGGAGTTTTAAAAATTAACCTGGGGATTCTATTTGAACTAGAAAATTCCTATTGGAAAAGAATTTGCACATACTTACAGATTCAGCTAATAAATTTTAAGAGGATTAGGATTCTCATAATTCTTTAAATGAAAATTTGTTTTAGTGATACACAGAGATGCCGTATACTATAGTGTTATGTTCAGTAGGAAAACTTCAAATAGTTCGTATTTAAAAAGGTAATTGATCCTTGCTGTACTTCCCAACATCTCATCTTCTTTTAGCTGCAGTAAGATAGAGGTGACTGTATGGCTACAGTTCATGGTATAAGGTCATTTAGGGTGCACACTGGCACACAGGCTGGAAAACGGGCACTGGACCCAGCTTTCAGGTGTGTGGTGCTGGGTAAGTTTCACCTTTGAAGCCTCAGCCTTCCATCTGTAAAGGGCGGTAATGGTGCCCACCTTTCGAGGCATTGCGAGGCTAGATGGTAACACACAGAAAGCTCCCACAGTGGGACCTTGATGCAGCGTAGCTGGTATTAACAACCGTGGGGACACCAGGCCACTCTTTTTCTACCAGTTGTTTTATGAATCCACCTATTAATTTTCATCCATCTTTTGGTCGTAGGTAAAGGTCAATCAGGTTTTTCAAAAAGACTCCCTGAATAACTTAAGTTCCTGTATTTCTAAGATATAGGGATTTCTACAAAACGACTTTGACATTTAGTCAATAAAGACTTAAACTCTTCTTAAATCTATAGTTTTAGGAGAGTTTTTCTTAAAATTACTGACTGATGACATTGAGACAAGAGCATCAATGATCACCTTTCACGTACAAACTAGGCAAGACAGGGTCAGTGCTTACATTTTGTGGTTATACATGATACATCTTTTCTCAGTGAACATAAAACTATGATTTGAAAGGTGTCTTATATTTAAAAAAGATTGTAAAATGAAAACTGACCAAATGAACTAATTCTACCCACCTATGGTCTTTTTAAATGTCGAGTTTCAAAACCCATTTGCCGTATACTAGAGTGAGCTTGGAAACTTACCTGATTACAGGAATTGCTTGGGTTCAGGCAGATTCCCACTTTCACCTCTAGAGATTTAGATTCAGAAACACTGGGGTAGGCCCTGGAGAGCAGTACTCTTAACAAGCTCCTCAGTGCTTCTTACCATTAGGCAAATTAGGGAAACACTGCATTGGGTCAAAGTGCTGCCTTTAATCGACCATTAGAGGGAGTTCTCTAAATAACAAAGTTATTACTCTAATTCAAAATGCTTTAAAGAATTTTCCAAGGAATACAAGCCATCTGGTTGGTGTTAGTTATAGCAGTGATTTCATTAGAGTGTACATTTAACATTTTAGTTTTATCAAAATTTTTTGAAATTAAGAATTAGAACCAGAGCTCCTATCAGTATATATGTACACAGGTGTGCATGCCAGTGTTCAAAAGATTGTGTAAAAGTTCAAGCCCGTTTTAGAAAGCCAACATTTTATGTTATAATATGCTGTTAATCAGGACTTTATTAAATAAAAACATTGGCTCTTCCAACCCCCACTGCCAAA)$ MTRWVPTKREEKYGVAFYNYDARGADELSLQIGDTVHILETYEGWYRGYTLRKKSKKGIFPASYIHLKEAIVEGKGQHETVIPGDLPLIQEVTTTLREWSTIWRQLYVQDNREMFRSVRHMIYDLIEWRSQILSGTLPQDELKELKKKVTAKIDYGNRILDLDLVVRDEDGNILDPELTSTISLFRAHEIASKQVEERLQEEKSQKQNIDINRQAKFAATPSLALFVNLKNVVCKIGEDAEVLMSLYDPVESKFISENYLVRWSSSGLPKDIDRLHNLRAVFTDLGSKDLKREKISFVCQIVRVGRMELRDNNTRKLTSGLRRPFGVAVMDVTDIINGKVDDEDKQHFIPFQPVAGENDFLQTVINKVIAAKEVNHKGQGLWVTLKLLPGDIHQIRKEFPHLVDRTTAVARKTGFPEIIMPGDVRNDIYVTLVQGDFDKGSKTTAKNVEVTVSVYDEDGKRLEHVIFPGAGDEAISEYKSVIYYQVKQPRWFETVKVAIPIEDVNRSHLRFTFRHRSSQDSKDKSEKIFALAFVKLMRYDGTTLRDGEHDLIVYKAEAKKLEDAATYLSLPSTKAELEEKGHSATGKSMQSLGSCTISKDSFQISTLVCSTKLTQNVDLLGLLKWRSNTSLLQQNLRQLMKVDGGEVVKFLQDTLDALFNIMMENSESETFDTLVFDALVFIIGLIADRKFQHFNPVLETYIKKHFSATLAYTKLTKVLKNYVDGAEKPGVNEQLYKAMKALESIFKFIVRSRILFNQLYENKGEADFVESLLQLFRSINDMMSSMSDQTVRVKGAALKYLPTIVNDVKLVFDPKELSKMFTEFILNVPMGLLTIQKLYCLIEIVHSDLFTQHDCREILLPMMTDQLKYHLERQEDLEACCQLLSHILEVLYRKDVGPTQRHVQIIMEKLLRTVNRTVISMGRDSELI|lvmngkyyqnqifiemstdldtlq* 05BR043 ENSG00000110435.12 ENSG00000110422.12 +/+ +/+ chr11:34970286 chr11:33328510 CDS/splice-site CDS/splice-site duplication 1 2 0 52 66 high out-of-frame . 2-oxoacid_dehydrogenases_acyltransferase_(catalytic_domain)(100%),Biotin-requiring_enzyme(100%),e3_binding_domain(100%)|Protein_kinase_domain(100%) . . ENSG00000110435.12 ENSG00000110422.12 ENST00000448838.7 ENST00000303296.9 downstream upstream . ^(AAACGCCCGGCCCGCTACCCTGCGCCCAGCTCCAGCCGCCGGGTCCCGCCTGGGCCTCTCCTCCTGGGAATACCGGGCACCGGTGGCCCCGCCCCTACCTGCGCGCCGCATCTCCGGGAACAACAGTCTCCCTCCCGAGCATCACAGCCAGACATGGCCCAGACCAGGGACCCGCGCGGCCTCCAATCTCCGCACGGCTTTGCGCGCGGCGCTTAGCCTGGGATACGGCAGCGAGGCCGCAAATGCAATCAGGCGGCGCTGAGGGCAGCCCGGGGGCGGGGCGAACGGGGCGGGGGCCGGGGTCTGGTAAGGCCCCGCCGGCTGAGATATCCAGCGGCGCACCTGACTTCCCGGGAG___GTGATCCCATTAAGATACTAATGCCATCACTGTCTCCTACAATGGAAGAAGGAAACATTGTGAAATGGCTGAAAAAGGAAG___GTGAAGCGGTGAGTGCTGGAGATGCATTATGTGAAATTGAGACTGACAAAGCTGTGGTTACCTTAGATGCAAGTGATGATGGAATCTTGGCCAAAATCGTG___GTTGAAGAAGGAAGTAAAAATATACGGCTAGGTTCACTAATTGGTTTGATAGTAGAAGAAGGAGAAGATTGGAAACATGTTGAAATTCCCAAAGACGTAGGTCCTCCACCACCAGTTTCAAAACCTTCAGAGCCTCGCCCCTCACCAGAACCACAGATTTCCATCCCTGTCAAGAAGGAACACATACCCGGGACACTACG___GTTCCGTTTAAGTCCAGCTGCCCGCAATATTCTGGAAAAACACTCACTGGATGCTAGCCAGGGCACAGCCACTGGCCCTCGGGGGATATTCACTAAAGA___GGATGCTCTCAAACTTGTCCAGTTGAAACAAACGGGCAAGATTACCGAGTCCAGACCAACTCCAGCCCCCACAGCCACTCCCACAGCACCTTCGCCCCTACAGGCCACAGCTGGACCATCTTATCCCCGGCCTGTGATCCCACCAGTATCAACTCCTGGACAACCCAATGCAGTG___GGCACATTCACTGAAATCCCCGCCAGCAATA)TTCGAAGAGTcATTGCCAAGAGATTAACTGAATCTAAAAGTACTGTACCTCATGCATATGCTACTGCTGACTGTGACCTTGGAGCTGTTTTAAAAGTTAGGCAAGATCTGGTCAAAG|AGCTCCAGAGATTATATTGGGGTTGCCATTTTGTGAAGCCATAGACATGTGGTCATTGGGATGTGTGATTGCAGAATTATTTCTTGGATGGCCGCTCTACCCAGGAGCCTTGGAGTATGATCAG___ATTCGATACATTTCTCAGACTCAAGGTTTGCCAGGAGAACAGTTGTTAAATGTG(GGTACTAAATCCACAAGATTTTTTTGCAAAGAAACAGATATGTCTCATTCTGGTTGGAGATTAAAG___ACATTGGAAGAGCATGAGGCAGAGACAGGAATGAAGTCTAAAGAAGCCAGAAAATACATTTTCAACAGTCTGGATGATGTAGCGCAT___GTGAACACAGTGATGGATTTGGAAGGAAGTGATCTTTTGGCTGAGAAAGCTGATAGAAGAGAATTTGTTAGTCTGTTGAAGAAAATGTTGCTGATTGATGCAGATTTAAGAATTACTCCAGCTGAGACCCTGAACCATCCTTTTGTTAATATGAAACATCTTCTAGATTTCCCTCATAGCAACCA___TGTAAAGTCCTGTTTTCATATTATGGATATTTGTAAGTCCCACCTAAATTCATGTGACACAAATAATCACAACAAAACTTCACTTTTAAGACCAGTTGCTTCAAGCAGTACTGCTACACTGACTGCAAATTTTACTAAAATCGGAACATTAAGAAGTCAG___GCATTGACCACATCTGCTCATTCAGTTGTGCACCATGGAATACCTCTGCAGGCAGGAACTGCTCAGTTTGGTTGTGGTGATGCTTTTCAGCAGACATTGATTATCTGTCCCCCAGCTATTCAAG___GTATTCCTGCAACACATGGTAAACCCACCAGTTATTCAATAAGGGTAGATAATACAGTTCCACTTGTAACTCAGGCCCCAGCTGTGCAGCCACTACAGATCCGACCAGGAGTTCTTTCTCAG___ACGTGGTCTGGTAGAACACAGCAGATGCTGGTGCCTGCCTGGCAACAGGTGACACCCCTGGCTCCTGCTACTACTACACTAACTTCTGAGAGTGTGGCTGGTTCACACAGGCTTGGAGACTGGGG___GAAGATGATTTCATGCAGCAATCATTATAACTCAGTGATGCCGCAGCCTCTTCTGACCAATCAGATAACTTTATCTGCCCCTCAGCCAGTTAGTGTGGGGATTGCACATGTTGTCTGGCCTCAGCCTGCCACTACCAAGAAAAATAAACAGTGCCAGAACAG___AGGTATTTTGGTAAAACTAATGGAATGGGAGCCAGGAAGAGAGGAAATAAATGCTTTCAGTTG___GAGTAATTCATTACAGAATACCAATATCCCACATTCAGCATTTATTTCTCCAAAGATAATTAATGGGAAAGATGTCGAGGAAGTAAGTTGTATAGAAACACAGGACAATCAGAACTCAGAAGGAGAGGCAAGAAATTGCTGTGAAACATCTATCAGACAGGACTCTGATTCATCAGTTTCAGACAAACAGCGGCAAACCATCATTATTGCCGACTCCCCGAGTCCTGCAGTGAGTGTCATCACTATCAGCAGTGACACTGATGAGGAAGAGACTTCCCAGAGACATTCACTCAGAGA___ATGTAAAGGTAGTCTAGATTGTGAAGCTTGCCAGAGCACTTTGAATATTGATCGGATGTGTTCATTAAGTAGTCCTGATAGTACTCTGAGTACCAGCTCCTCAGGGCAGTCCAGCCCATCCCCCTGCAAGAGACCGAATAG___TATGTCAGATGAAGAGCAAGAAAGTAGTTGTGATACGGTGGATGGCTCTCCGACATCTGACTCTTCCGGGCATGACAGTCCATTTGCAGAGAGCACTTTTGTGGAGGACACTCATGAAAACACAGAATTGGTATCCTCTGCTGACACAGAAACCAAGCCAGCTGTCTGTTCTGTTGTGGTGCCACCAGTGGAACTAGAAAATGGCTTAAATGCCGATGAGCATATGGCAAACACAG___ATTCTATATGCCAGCCATTAATAAAAGGACGATCTGCCCCTGGAAGATTAAACCAGCCTTCTGCAGTGGGTACTCGTCAGCAAAAATTGACATCAGCATTCCAGCAGCAGCATTTGAACTTCAGTCAG___GTTCAGCACTTTGGATCTGGGCATCAAGAGTGGAATGGAAACTTTGGGCACAGAAGACAGCAAGCTTATATTCCTACTAGTGTTACCAGTAATCCATTCACTCTTTCTCATGGAAGTCCCAATCACACAGCAGTGCATGCCCACCTGGCTGGAAATACACACCTCGGAGGACAGCCTACTCTACTTCCATACCCATCATCAGCCACCCTCAGTAGTGCTGCACCAGTGGCCCACCTGTTAGCCTCTCCGTGTACCTCAAGACCTATGTTACAGCATCCAACTTATAATATCTCCCATCCCAGTGGCATAGTTCACCAAGTCCCAGTGGGCTTAAATCCCCGTCTGTTACCATCCCCAACCATTCATCAGACTCAGTACAAACCAATCTTCCCACCACATTCTTACATTGCAGCATCACCTGCATATACTGGATTTCCACTGAGTCCAACAAAACTCAGCCAGTATCCATATATGTGAAAAACAGTATATTGGGGAAGCTCAATGATACAAACATTTGATTAAAAATAAAAACATGGTATTTAATATTAGCCATGGCACAAGAAAATTATTTTTGAATCATGTAGACTTGGGTGCAATTTAAACAACTTTGAGCTTTAAAAACTCACTTTTGATGTGTTTTGCACATTTGGTATAACTTGTCTTTGGTCATGTTATCTTCTTATGTAGTAACTCTAGACAGGTGACTTATGGGAGCAGAAGTCCAGTTTTGCTCCTGCTATTTTTTATAAATTGCCTTCTAACTAGTGCAAGACACGTCTACATTTGGGAAGCCATTCTGTGTACAGACTTAGAGCAACAGATGCACATATGTCAGAATTACAGCATACAAGTGAATTGTATTATCCGTGTCTTAGTGTATAAATGTTGGGTCACTTACCTAAGAAATTGAGCTATTGTTCTTTACATTTGCATGTGTCTTTTGCATGGGCAAAATGTTGCCTAGACTTTGCTCTTAAATGTTGTTCTAATAATCTCAGCTGCATTGTAAACCGTTCCTACACATAGTGCCTTAAATATTTGAGGTTGTTAATGTTATTACCTATATATAAATGTTGAGGACTGCAGCACTTAAAATTCAGACCTACTATTTAGTTTCCTTTTGATAGCGTAATGTTCATTTTTGTTTTTGTGTGGTATGATTTCAGGTAGTAGCTGTTTTTTTCCTTATTAAGAGGGCAGCATGTTTGCTATAGCTGAATTCTGCTGTCTGATTTTTCAGAATGATCTAGCTTCAAGAAAAGCAAGCAGTTAGTAGTGCTTAAGAAAAATTGATTCAGTATCTAATGGATAGTTGATAACTGTCACAGCACAGCATTTTATATACTGTTAAGTGAAACTGCAATACAATCTAAGTTTATTTTGAGAGTGTTTGCTGTATAATTGGACTTAATAAAATGTTTAGAGGTACAGTAGGCATGACTTTGGGTAGATAATAAAATGCAAAATGCTCATTGATTCATGATGTGGTTTTATCTTAGCTTGGGCAAACCATGCAGTATTTAATAAATAGTAGCAGAACTTTTACTATTGAAGCTTGAAAAGATGTGAGTTCTTTGTGTGCAATTTTTGATTTATGCATGTGAGAGGGTTTTTTTTTTTTTTAAGTATTTTTACATTGCAGTACTTGTTTTGCTTGTTGGTGATGTTTGCTTATTTAATACATTCCGTCAGGGACAGAAATTACATGCTTTTTTTTCTTTCTAGGAAGTGTGTTGAGTTCCCCCCTTCCCCGACATTTTTTTCTTTTTTGGGTGGTGGTGATGGTAGTGGTTATGTCTGTTTAAATGAAGTTGCTTTTACAGCACCAAAGACTTAATCATCCATTTCCTATATAAAGGTAGCTACTTTTTGCATAGACCTCAAGTATATTGTAGTGTAAAGGTGGAATTTAAGGAAAGGTATTAAATTGAGGCTGTGTTTTAGCTTACAGGCAAGTAATAAATTGTATCATTTATCTTGAATGTATCATAGATAAGCTGCTATATAACGATTGCCACTTCAGATAGCTGTGAAATTAGGTGATTAACTAGTTGTTATTTAGCCTTCTAATTTCTGTATAAGTCTAATTACATGAATAGAAATTGGGGTTTTGATTTTTTACTTTGCTTTTCTGTTTGGAGTGTCATTGTAACTACTGTATTGTAAATGGTGGAAAATAATTGCATTTGTTACTTTGGGGTGTGTTATTTGCATCAGTATTTTATCTCTATTAATGTTTGTGCTCATCACTGCATATTAAAAAAACTTGGATGTATCAGTGTAACTTAATTTTTTATTTTCATACTGGCATTGTAGACACTTGAGAAAGCTGTATCTTGCAGGCTTGACTTAACTTTTTTCCTTAAAAATCTGGAATATAATCTTACAGCATTTACTGGAATAAACAGTACAAAGCATTGGAGTGTAAAACTCTAGATGTTTTGGATTTACAGCGTTTCTTTGATAAATGAATTGTATACCACTAGTACAGCTCTAGTACAGCGTTCACAATAAGCTAATAATGGATAAGTTTTCTTCACTCCATTAACACAAGCAGTGTTTTATTTAATAATCATCAATGAAATAAATGTGCCTGAAATTGATTTTAAAAATTACAGTATTAGATCATAAAGTAAAAACCAGCAGTACATTTTTAGTCACACTGAAAATGAAGGACTTAATTTTCCCCACAAGTTTCAGTGTTTTTAGTAATTAATTCTATGCATTTTATACAAATAGAAATATATATATATAAAAAATTAAATGTTTAAAAAGGAGTAGCCTAAGATTAATTTAAAAGATTATTTACAGATGACACATTTATGGGGTCACTATTTAAGTAAATTTGCTGCCCTCCACAGCCTTCTAATTTTATTTATATGTTCCAGCAGATTATTAGGATCTGCTTACTTCTTAGGAAAGAATCAATGCTGGCAACACATTGTTTCAGAAACACCAAGTGCAAAGGATTGATTGTATCACAACAGGTACAAAACTGACAGAGTTTTCTTTTTGTTTAGGGCCATGTTTACTACCCTGAAATGTTGTATTTTTTGTCTTTAATTTCCAAGACTTAAAGCAGTCTTGTTAAATTGACATAAATGGTAAACTTCAACATTTTCATAATACAGTATTAATGTTTGATAAAGGTATATCCCAGTTAACTACACTGCTCTTTAATTGCAATCATGGGCATTTTAATGTATTTTAAAATAAATTTCAAAATTCTGCTAAATTCTTAATTTAGCATATTGACAAAGTAATCTGGATTTATACCTTTTAAAAACCATTTTGACCAGTTTTCTTCGGTTTTAATGCTTTCTTAAATAAAACACTGCATGATTTCCAAGTTGCATATTTGCATACTATTTTAATTTGCAAAATGTTTTTTAAATCAAATATCCTGATATTTAGTTGTTTTTTTTTTCCTCCAGCGTGTTTAATTAAATATGTTACTGTATTAGCAAAACATTTTCATTTTTAAAATCTGCTAATTTTAAACTTGGACTGTGTTAAGTAAAAGTTAAATCATACACTGCAAGGTGTAGGAAGATTTGTTTTAATGAATCCAATGATACAGATTTGATTACTAAGTTTGAACTGTTAATTGTTTAACAATTTTAGACTTGTGGCTTTCTTTCTTTGGTTTATTTGTTTTTGCTTTTACTCCTATGCTACACTAGTTTGCCATGTAGCAATTGCACTGTGCAATATTACAATAAGGACTGGGAAAATTTTATGGATGTAATGTCTATTACGGTTTGCGATAGTATTTCTCTCTAGTTCTCAGTGATTTAAATGTGACCAAGCCTTCTGTACTTTGTCACAAAAAGCGGGTTTTCCAGGTGACTATTTTGGTGAGTGTCAAAATAAGAATTTATGGTGTATTACTGTCGATTCACTTTGAATTAAAATATATATATTGCAGCAAA)$ MQSGGAEGSPGAGRTGRGPGSGKAPPAEISSGAPDFPGGDPIKILMPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSKNIRLGSLIGLIVEEGEDWKHVEIPKDVGPPPPVSKPSEPRPSPEPQISIPVKKEHIPGTLRFRLSPAARNILEKHSLDASQGTATGPRGIFTKEDALKLVQLKQTGKITESRPTPAPTATPTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPASNIRRVIAKRLTESKSTVPHAYATADCDLGAVLKVRQDLVK|elqrlywgchfvkp* 05BR043 ENSG00000186470.14 ENSG00000104885.18 +/+ +/+ chr6:26374798 chr19:2229785 3'UTR/splice-site CDS/splice-site translocation 1 2 0 158 78 high stop-codon . Immunoglobulin_V-set_domain(100%)| . . ENSG00000186470.14 ENSG00000104885.18 ENST00000508906.6 ENST00000398665.8 downstream upstream duplicates(1),inconsistently_clipped(1) ^(ACCTCTGAGCCAATCAAAAAACTAATTCTTCCAAAGAGCGACTCTTACTGTTTCTCATGGTGAGAAGACAATATTTGCTTTCTCTTTTTCCTTTCTTCCGGATGAGAGGCTAAGCCATAATAGAAAGAATGGAGAATTATTGATTGACCGTCTTTATTCTGTGGGCTCTGATTCTCCAATGGGAATACCAAGGG___ATGGTTTTCCATACTGGAACCCAAAGGTAAAGACACTCAAGGACAGACATTTTTGGCAGAG___CTCAGTTTTCTGTGCTTGGACCCTCTGGGCCCATCCTGGCCATGGTGGGTGAAGACGCTGATCTGCCCTGTCACCTGTTCCCGACCATGAGTGCAGAGACCATGGAGCTGAAGTGGGTAAGTTCCAGCCTAAGGCAGGTGGTGAACGTGTATGCAGATGGAAAGGAAGTGGAAGACAGGCAGAGTGCACCGTATCGAGGGAGAACTTCGATTCTGCGGGATGGCATCACTGCAGGGAAGGCTGCTCTCCGAATACACAACGTCACAGCCTCTGACAGTGGAAAGTACTTGTGTTATTTCCAAGATGGTGACTTCTATGAAAAAGCCCTGGTGGAGCTGAAGGTTGCAG___CACTGGGTTCTAATCTTCACGTCGAAGTGAAGGGTTATGAGGATGGAGGGATCCATCTGGAGTGCAGGTCCACCGGCTGGTACCCCCAACCCCAAATACAGTGGAGCAACGCCAAGGGAGAGAACATCCCAGCTGTGGAAGCACCTGTGGTTGCAGATGGAGTGGGCCTATATGAAGTAGCAGCATCTGTGATCATGAGAGGCGGCTCCGGGGAGGGTGTATCCTGCATCATCAGAAATTCCCTCCTCGGCCTGGAAAAGACAGCCAGCATTTCCATCGCAG___ACCCCTTCTTCAGGAGCGCCCAGCCCTGGATCGCAGCCCTGGCAGGGACCCTGCCTATCTTGCTGCTGCTTCTCGCCGGAGCCAGTTACTTCTTGTGGAGACAACAGAAGGAAATAACTGCTCTGTCCAGTGAGATAGAAAGTGAGCAAGAGATGAAAGAAATGGGATA)TGCTGCAACAGAGCGGGAAATAAGCCTAAGAG___AGAGCCTCCAGGAGGAACTCA___AGAGGAAAAAAATCCAGTACTTGACTC___GTGGAGAGGAGTCTTCGTCCGATACCAATAAGTCAGCCTGATGCTCT___AATGGAAAAATGGCCCTCTTCAAGCCTG|GTAACTAGGATTTCTACCTCAACCGCGAGACCTATGCAAGGACGGTGTGGACCAACTCGCGCCCGCGGCATGGTGCCCGCCGGCCTGCCGGGCTCCCACCCCTGGACGGCAGAGGCAAGGACGGACGGGAGCTCCACTGTGAATCGGCGGCACGCGCCGCAGGAGGCTGGGACTGGT(CCAGTTTGTACTGTCGATAGTTTTAGATAAAGTATTTATCATTTTTTAAAAAGTATAAACAATTCTGACTTATTTTATTCCATCTAAGTGGTAAAAGGCAACTTATTGAGAAATATAAATATCTATATATGAGAGCTCTATATAAAGACACGTGTCTGCAGGGCGGGCCCGCCAGCGGATTCGCCACAGCCTGCCCCGGTGCTATCTCGTCCCCAGGCCCGCGCCTGCCTCCACCCGCTTGGTGCTGACTAGACGCTGACAACGCCGAACCCCGTTCTCGGAAACGCCGCCCGGCCGGCTCCCCCGACGCGCTGCTCCCGTACCAAAGGCAGGCCCGTCGCCACCACATTCCTCGGAGGCCTCCCCGCGGCCTGAGCCCCTTCCTGAGCGCCCTGGCGCCTGCCCTGAGCTCTTCACCTTTACCCCGGCACTGTGAACCCCCAGACTGTTCACCCTCCGGGGCGTGGGTTGCGCCCTTGCATGTGAAGGGGCCTGCGCGGTGACGCAGCTGGCCATGTGCTGCGCGATGGTGCTGTGAGGACGGCGCGGGCACGTTGAACAAGTGCATTTACTTTTGTATTTCTCGGCTGTCCATGGCTCGCAGCATGCCCTGCGATGCGGGGCAGGCCTGTCGTGGGTCCCTTGGTGTTTCTGTACAGGAGAGAGTCACACTAATGAGTGGCAGTATTTTATAGAGATGTGATGAGAATTTATAAATTTCATAGATTTGACAGCTTTTATTTTTAGATGGTATAATGCACAGTGAAGAGGAAAGAAAAGCGAGGGGAAAAAACCTTATTTATTCAAACAGTGCACAAAATGGCCCCAGCGTCAGCCCCGACCCTAGACCCCTCAGTTGCAGCTCCCAGCAGCCCAGACAGAGCTGCCGGCGCCCCTGCCTGCCCCACATCCCTTCCTGTCAGGGCCACGCCTGGCACCCATCCCTTGGAGCCTGTGCTGGTTCTCCCAGCTGCTGTGGGTGTGCTGGGGCCAGGGTGCACTGCTGAAACCTGGCCTCTCTGGCCCTAGGCCCCAGGGTGACGTCGGCCCCCCACTCTGCAGCCTTGGCGGGTGCCTGGGACTGGGTGTGGAAGGAGAGGAGCTGAGGCCGGGGTGTAGCAGGCAGGCAGGGCCACTCCAGTGCTTCTGGAGCCCTGAGCAGTCAGGGCCTGGGTTGTCTGAGCAGTGGTGGCTCTGTGCCCTCCCTGGAGGATGGGATCTGGGAGTCTGAGCTCCCCGCATCTGGCCCTGGGCTGTGTGGCACTTGCTGAGCCCACCTTCTCAAGTGCTTGCTCCTGTGAGATGGCATCGGGGAGCCCCTTCCCCAAGGTGCCACAGATCCACCCTCCAGGGAGCTGCCAGCCCTGTGTTCTGGTTCCCAAGGGCAGGATGGACACACGTCACATCCCTACCACGTGGCCTCCAAAGGGAGCCACGGAGGAAAGGCTTCTGTGGTTGCTAGGTGGGGGAGTCCTGTGTGGGAGGGCCTGAAGACCCCTGCTTGTGCCTGGTGAGGGGGGTGCTGCCTCCCCCAGCCCCCAACAACCTCTCAGACCCCCACCCTCCAACATAGCTGAGTTCTGAAGATGGTGCTCCGGACCTGTCCTCTTAAGTGGTGCCCAGTGCCCTCCCCACCCCACGTTGGTGCTCTCAGCTAGAAGGTGCTGTGCCTCTGCCTGAGCCCCAAGCCCCGAGCCTGGCCTTCAGGACAGGCAGCCTGCTCTGTGTCGCCACGGGCCGGATACGCCACAGGGTTGATGGCAGAGACGGCCGAGTCCCTGGTCTAGAACAAGACACATTCTTTAAACACTGTATTACTTCTGCCTCCCTCTAGGTGACAGTGGCAGTCCGGGTGCCATCACGGGTCCTGCAGATGGCCATGCAGGGCTCCTGCCCACGCAGGCCACCGTATGTTCAGGACACGCACTGGGTCTCAGAGCCACTGGCCCAGGCAGAAGTCTCCTTGAGCCCACTGGGTCATATGCGTGTCACCACACGTGAACTAGTGTGGTGGCTGCCTGCGGACACCCTCCTGTTCTGAGCCCTGGGCCTGTGTTCTTCTCAGACACTCCCAGACTGAGGGGTGGTGTGTGGCGGGTGGCAGGGTGGCTGTGGAGACTGGGGATCTGGAGCCTGGTGCTGGCACCTGGCCTGAGTTTCCGTGGGCAGCTGGCGGGGACCTGTGCTGCTGCTGCTGACTGTGGGTGGGCGGGCGGCGCCTGGGAGTGGCTCTTGCTCAGGAATTGATAGGAACCCTAAAAACTAGGATACCCCCTCCTCGGCCCATGAGGCACGCACAGTGACTTATTTAAGACTTCCCCCTTAATTTATCTGCCCCCAGGATGCGTCAGTCTGTTCAGTGGTCAGCAGGCCCCCCACCCCCCGCCGACTGCCCTCGCCATCGTGGTCAGACCCCCCTCCCAACACAACACGCTGCTGGTCTGTGTCAGCCTTTGTAACGTGGGAGGCTCTGCCGTGTCTTCCGGGTGAACTGTATTTGGATTGCGCGCATTGTCACGGTCCGCCCCTGGGCTGCAGGCGCCCCTTCCTCTGGGCACCCCTGCATTCTGCATCCCCACCTCTAGACGCTGTAATAAACAGACTGTTTTCACTCGGA)$ . 05BR043 ENSG00000186470.14 ENSG00000104885.18 +/+ +/+ chr6:26377036 chr19:2229445 3'UTR intron translocation 10 4 0 169 23 medium stop-codon . Immunoglobulin_V-set_domain(100%)| . . ENSG00000186470.14 ENSG00000104885.18 ENST00000508906.6 ENST00000398665.8 downstream upstream duplicates(1) ^(ACCTCTGAGCCAATCAAAAAACTAATTCTTCCAAAGAGCGACTCTTACTGTTTCTCATGGTGAGAAGACAATATTTGCTTTCTCTTTTTCCTTTCTTCCGGATGAGAGGCTAAGCCATAATAGAAAGAATGGAGAATTATTGATTGACCGTCTTTATTCTGTGGGCTCTGATTCTCCAATGGGAATACCAAGGG___ATGGTTTTCCATACTGGAACCCAAAGGTAAAGACACTCAAGGACAGACATTTTTGGCAGAG___CTCAGTTTTCTGTGCTTGGACCCTCTGGGCCCATCCTGGCCATGGTGGGTGAAGACGCTGATCTGCCCTGTCACCTGTTCCCGACCATGAGTGCAGAGACCATGGAGCTGAAGTGGGTAAGTTCCAGCCTAAGGCAGGTGGTGAACGTGTATGCAGATGGAAAGGAAGTGGAAGACAGGCAGAGTGCACCGTATCGAGGGAGAACTTCGATTCTGCGGGATGGCATCACTGCAGGGAAGGCTGCTCTCCGAATACACAACGTCACAGCCTCTGACAGTGGAAAGTACTTGTGTTATTTCCAAGATGGTGACTTCTATGAAAAAGCCCTGGTGGAGCTGAAGGTTGCAG___CACTGGGTTCTAATCTTCACGTCGAAGTGAAGGGTTATGAGGATGGAGGGATCCATCTGGAGTGCAGGTCCACCGGCTGGTACCCCCAACCCCAAATACAGTGGAGCAACGCCAAGGGAGAGAACATCCCAGCTGTGGAAGCACCTGTGGTTGCAGATGGAGTGGGCCTATATGAAGTAGCAGCATCTGTGATCATGAGAGGCGGCTCCGGGGAGGGTGTATCCTGCATCATCAGAAATTCCCTCCTCGGCCTGGAAAAGACAGCCAGCATTTCCATCGCAG___ACCCCTTCTTCAGGAGCGCCCAGCCCTGGATCGCAGCCCTGGCAGGGACCCTGCCTATCTTGCTGCTGCTTCTCGCCGGAGCCAGTTACTTCTTGTGGAGACAACAGAAGGAAATAACTGCTCTGTCCAGTGAGATAGAAAGTGAGCAAGAGATGAAAGAAATGGGATATGCTGCAACAGAGCGGGAAATAAGCCTAAGAG___AGAGCCTCCAGGAGGAACTCA___AGAGGAAAAAAATCCAGTACTTGACTC___GTGGAGAGGAGTCTTCGTCCGATACCAATAAGTCAGCCTGATGCTCT___AATGGAAAAATGGCCCTCTTCAAGCCTG___GTGAGGAAATGCTTCAGATGAGGCTCCACCTTGTTAAATAAATTGGATGTATGGAAAAATAGACTGCAGAAAAGGGGAACTCATTTAGCTCACGAGTGGTCGAGTGAAGATTGAAAATTAACCTCTGAGGGCCAGCACAGCAGCTCATGCCTGTAATCCTAGCACTTTGGAAGGCTGAGGAGGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAAAAAATTAGCCGGGCATGGTGACGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGAAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCTGTCTCAAGAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAATTAACCTCTGAGTATAAAGCATCAGTGGGCAGAATCAATGTGGGGAGGGAAACAACAAAAATGTAGAAAGAGGATCCTTGTTGCTTCTTGGGGCCGCATCAGGGTATTGGGTTAGGCAGATACTGACCTTACTTTCATTTCCCCTCTGGTCACTAGACCCCTGGGGCTTTCACCAATGACATTGATGAGAGAATCACATTCAGGGCAGGCTAGGGACACGGGGTTCTGGAAGGACCTCCTCAGCATGGCCCAAGCCTTGCATGCTGTGGCTCTTAAATCCAGGAAAAATGGCTGACCCCATGGACACCTCCTCAAACTCTCTGCAGCAGATGTAATTCTGTATCCAGACATGGCAAATGCCATCCTCCTTGTTTCTGAGGACCAGAGGAGTGTACAGCGTGCTGAGGAGCCCCATGACCTACCAGACAACCCTGAGAGATTTGAATGGCGTTACTGTGTGCTTGGCTGTGAAAGCTTCATGTCAGAGAGACACTACTGGGAGGTGGAAGTGGGGGACAGAAAAGAGTGGCATATTGGGGTATGTA)GTAAGAACGTGGAGAGGAAAAAAGTTTGGGTCAAAATGACACCGGAGAAtGGATACTGGACTATGGGCCTGACTGATGGGAATAAGTATCGGGCTCTCACTGAGCCCAGAACCAACCTGAAACTTCCTGAGCCTCCTAGGAAAGTGGGGGTCATCCTGGACTATGAGACTGGACATATCTCGTTCTACAATGCCACGGATGGATCTCATATCTACACATTTCTGCACGCCTCTTCCTCTGAGCCT|GGCGGGTCAATGCGGGCACCTGCGGGCTGGACAAGCTATGCTGGGTCTCTTAGGAGATGAGCTGCAG___GTAACTAGGATTTCTACCTCAACCGCGAGACCTATGCAAGGACGGTGTGGACCAACTCGCGCCCGCGGCATGGTGCCCGCCGGCCTGCCGGGCTCCCACCCCTGGACGGCAGAGGCAAGGACGGACGGGAGCTCCACTGTGAATCGGCGGCACGCGCCGCAGGAGGCTGGGACTGGTCCAGTTTGTACTGTCGAT(AGTTTTAGATAAAGTATTTATCATTTTTTAAAAAGTATAAACAATTCTGACTTATTTTATTCCATCTAAGTGGTAAAAGGCAACTTATTGAGAAATATAAATATCTATATATGAGAGCTCTATATAAAGACACGTGTCTGCAGGGCGGGCCCGCCAGCGGATTCGCCACAGCCTGCCCCGGTGCTATCTCGTCCCCAGGCCCGCGCCTGCCTCCACCCGCTTGGTGCTGACTAGACGCTGACAACGCCGAACCCCGTTCTCGGAAACGCCGCCCGGCCGGCTCCCCCGACGCGCTGCTCCCGTACCAAAGGCAGGCCCGTCGCCACCACATTCCTCGGAGGCCTCCCCGCGGCCTGAGCCCCTTCCTGAGCGCCCTGGCGCCTGCCCTGAGCTCTTCACCTTTACCCCGGCACTGTGAACCCCCAGACTGTTCACCCTCCGGGGCGTGGGTTGCGCCCTTGCATGTGAAGGGGCCTGCGCGGTGACGCAGCTGGCCATGTGCTGCGCGATGGTGCTGTGAGGACGGCGCGGGCACGTTGAACAAGTGCATTTACTTTTGTATTTCTCGGCTGTCCATGGCTCGCAGCATGCCCTGCGATGCGGGGCAGGCCTGTCGTGGGTCCCTTGGTGTTTCTGTACAGGAGAGAGTCACACTAATGAGTGGCAGTATTTTATAGAGATGTGATGAGAATTTATAAATTTCATAGATTTGACAGCTTTTATTTTTAGATGGTATAATGCACAGTGAAGAGGAAAGAAAAGCGAGGGGAAAAAACCTTATTTATTCAAACAGTGCACAAAATGGCCCCAGCGTCAGCCCCGACCCTAGACCCCTCAGTTGCAGCTCCCAGCAGCCCAGACAGAGCTGCCGGCGCCCCTGCCTGCCCCACATCCCTTCCTGTCAGGGCCACGCCTGGCACCCATCCCTTGGAGCCTGTGCTGGTTCTCCCAGCTGCTGTGGGTGTGCTGGGGCCAGGGTGCACTGCTGAAACCTGGCCTCTCTGGCCCTAGGCCCCAGGGTGACGTCGGCCCCCCACTCTGCAGCCTTGGCGGGTGCCTGGGACTGGGTGTGGAAGGAGAGGAGCTGAGGCCGGGGTGTAGCAGGCAGGCAGGGCCACTCCAGTGCTTCTGGAGCCCTGAGCAGTCAGGGCCTGGGTTGTCTGAGCAGTGGTGGCTCTGTGCCCTCCCTGGAGGATGGGATCTGGGAGTCTGAGCTCCCCGCATCTGGCCCTGGGCTGTGTGGCACTTGCTGAGCCCACCTTCTCAAGTGCTTGCTCCTGTGAGATGGCATCGGGGAGCCCCTTCCCCAAGGTGCCACAGATCCACCCTCCAGGGAGCTGCCAGCCCTGTGTTCTGGTTCCCAAGGGCAGGATGGACACACGTCACATCCCTACCACGTGGCCTCCAAAGGGAGCCACGGAGGAAAGGCTTCTGTGGTTGCTAGGTGGGGGAGTCCTGTGTGGGAGGGCCTGAAGACCCCTGCTTGTGCCTGGTGAGGGGGGTGCTGCCTCCCCCAGCCCCCAACAACCTCTCAGACCCCCACCCTCCAACATAGCTGAGTTCTGAAGATGGTGCTCCGGACCTGTCCTCTTAAGTGGTGCCCAGTGCCCTCCCCACCCCACGTTGGTGCTCTCAGCTAGAAGGTGCTGTGCCTCTGCCTGAGCCCCAAGCCCCGAGCCTGGCCTTCAGGACAGGCAGCCTGCTCTGTGTCGCCACGGGCCGGATACGCCACAGGGTTGATGGCAGAGACGGCCGAGTCCCTGGTCTAGAACAAGACACATTCTTTAAACACTGTATTACTTCTGCCTCCCTCTAGGTGACAGTGGCAGTCCGGGTGCCATCACGGGTCCTGCAGATGGCCATGCAGGGCTCCTGCCCACGCAGGCCACCGTATGTTCAGGACACGCACTGGGTCTCAGAGCCACTGGCCCAGGCAGAAGTCTCCTTGAGCCCACTGGGTCATATGCGTGTCACCACACGTGAACTAGTGTGGTGGCTGCCTGCGGACACCCTCCTGTTCTGAGCCCTGGGCCTGTGTTCTTCTCAGACACTCCCAGACTGAGGGGTGGTGTGTGGCGGGTGGCAGGGTGGCTGTGGAGACTGGGGATCTGGAGCCTGGTGCTGGCACCTGGCCTGAGTTTCCGTGGGCAGCTGGCGGGGACCTGTGCTGCTGCTGCTGACTGTGGGTGGGCGGGCGGCGCCTGGGAGTGGCTCTTGCTCAGGAATTGATAGGAACCCTAAAAACTAGGATACCCCCTCCTCGGCCCATGAGGCACGCACAGTGACTTATTTAAGACTTCCCCCTTAATTTATCTGCCCCCAGGATGCGTCAGTCTGTTCAGTGGTCAGCAGGCCCCCCACCCCCCGCCGACTGCCCTCGCCATCGTGGTCAGACCCCCCTCCCAACACAACACGCTGCTGGTCTGTGTCAGCCTTTGTAACGTGGGAGGCTCTGCCGTGTCTTCCGGGTGAACTGTATTTGGATTGCGCGCATTGTCACGGTCCGCCCCTGGGCTGCAGGCGCCCCTTCCTCTGGGCACCCCTGCATTCTGCATCCCCACCTCTAGACGCTGTAATAAACAGACTGTTTTCACTCGGA)$ . 05BR043 ENSG00000122482.21 ENSG00000232393.1(166186),ENSG00000162669.16(69776) -/- ./- chr1:90982310 chr1:91190990 CDS/splice-site intergenic duplication 2 1 0 74 9 high out-of-frame . . . . ENSG00000122482.21 . ENST00000361321.5 . upstream downstream . ^(GAGAACAGTGGTGCACTGTTTCCGCTGCCCTCGTTTGTCTAATTGGCCCAGACGCTCCACCAGCGCGAAGCTTCCCGGGAGCTCCTCGCTGGCCACCCCCGCGGCCCGCAGCCCGGCAGAGGCGGGAAAGCAGCGCGCCTGCGCCGTGGGAA)CCGGGGCTGGAGGCGAAAAGCGGGGAGCGGAGGGGGGCCGCTGGAGCCGAGTAGCGTACAGAGCGGCGTGTGACGCGGGGACGCCGCGTGCTCCCAACGTCGCCCCGGTTTGACGCACACGGCACCAAACT___GTTTGATTTAATTTTGGATGAGATCGTTCTTGCAGCAAGATGTTAATAAGACAAAATCTAG|GTGCTGCACTTGCCTTCTTCAAGGTCCCGAAGGTAAAAATGTGTcTGGGACTCATGGGATTGCCCAATGTGTGCCCCAACTGAGCTCATCCTTCGTAAGCCATCACATTTTCTCAACATCTTAACGTCTATTTTCTTTTCCTCACAGCTACTTCTTTAACCAGCCATAAATGAAACCAGAC[t]TTTTTAAAGCCAATATTTTGCATTCTTTGTTTTTAATTTTTAAAACAAAT MLIRQNL|gaalaffkvpkvkmclglmglpnvcpn* 05BR043 ENSG00000163694.15 ENSG00000272209.1(46503),ENSG00000180537.13(51369) -/- ./- chr4:40595828 chr6:13873077 intron intergenic translocation 27 29 1 76 81 medium . . . . . ENSG00000163694.15 . ENST00000514014.1 . upstream downstream duplicates(11),mismappers(1) AGCGCACTAAAATGAGCCACTTCTGAACGAGCAGCGCCCAGGCCCCAGGCCCTGCTGCGAAGGCCCCGGCAAAGGTCAGGGCCCCGTCCGCGTGACGCTCCTGCCTGCGCGCGGCCAAGCCATGCTCGGCCCCAG___...GTTAA...___...TTGCTCCTGGGCTGTGAATGGTGTTAATTTCTGAAGTGGGCGGCTCCAAAAACTTAACAAGGAAAG___...TTTTTCCTGTGCTACATATG___GGGGGACGAAGTTTCACTCTGTTGCCCAGCCTGGAGAACAGTGATGAGATCTCAGCTCACTGCAAGCTCTGCCTCCCGG|CATCACATATTGGATTAAGGCCCACCCTAGTGGCCTCATTTTACCTCAGTCACCTCTGTAAAGACCTTATCTCCAAATATGGTGACATT...___GTTCACGCTGCTTTTATAAGCTGTAACACTCACCTGGAAGGTCTACAACTTCACTCCTGAAGCCAGCAAGACTGCAAGCCCAC...___GTGAGGAAGCTGAAGCCCACAGAGGATAAGAAGCATCTCAAGGCATCACAGA . 05BR043 ENSG00000177697.19 ENSG00000177685.17 +/+ +/+ chr11:834472 chr11:828582 intron 5'UTR duplication 20 30 0 99 287 medium . . |EF-hand_domain_pair(100%) . . ENSG00000177697.19 ENSG00000177685.17 ENST00000397421.5 ENST00000528542.6 downstream upstream duplicates(10),low_entropy(1),mismappers(5),mismatches(22) CAGCGCTGGGAGCCGCCGCCCCCGCA---GCTGCCGCCGCCGCCAGGGCCCGGACTCGGACGCGTGGTAG___...CTGTAATCCCAGTGACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCGAAACTCCATCTCAAAAAAAGAAAAAAAGAAAAAAACAAAATGTCTTGTGCCTTGCCCCACCCTAGCCCAGACTAAAATACCGGGCTTGGCCACTCCTCTCTCTGCCTCCAGAATGAACCCGGCCCA|AGGCCAGGCTGAGGCCCCCTGCTCTCATGGCCAGCCCTGGAAAGCCTGGGGCTGATGAGGCCCAGGAGGAGGAGGGGGAACTCGAGGGGGGCTCTGCAGGGCCGCGGGCTGCAATACTGGAGCAGGCTGAGGAGCTGTTTCTGCTGTGTGACAAGGAGGCTAAGGGCTTCATCACCAAGCACGACCTGCAG___GGTCTCCAGAGCGACCTGCCCCTCACGCCAGAGCAGCTGGAGGCTGTGTTTGAAAGTCTGGACCaGGCTCACACTGGCTTCCTCACCGCCAGGGAGTTCTGCCTGGGCCTGG(___GGATGTTTGTGGGGGTGGCGTCAGCCCAGGGAGCGAACCCCTGCAGGACTCCCGAGGAGACCTTTGAGTCGGGCGGGCTCGACGTGCAGGGCACGGCGGGCTCTCTGGATGAGGAGGAGGAAGAGGAGGAGCGATTCCACACTGTGCTGGAGCAGCTGGGGGTGGCCCCGGTCCTGGGCAA___GCAGCGGGCTGTGAGGACGCTCTGGGCCAGGCTGCAGCGCGAGCGCCCCGAGCTGCTGGGCTCTTTCGAGGATGTTCTGATACGCGCGTCGGCCTGCCTGGAGGAGGCGGCCCGGGAGCGCGACGGCCTGGAGCAGGCGCTGCGGAG___GCGCGAGAGCGAGCACGAGAGGGAGGTGCGCGCTCTGTACGAGGAGACGGAGCAGCTTCGGGAGCAGAGCCGGCGCCCGCCGAGTCAG___AACTTCGCCCGCGGGGAGCGGAGAAGCCGTCTGGAGCTGGAGCTGCAGAGCCGCGAGCAGGACCTGGAACGCGCGGGCCTGCGGCAGCGGGAG___AGACGTGGTCGCCGTCTCCAGGAACATGCAGAAAGAGAAAGTCAGCCTGCTACGGCAACTGGAGCTGCTCAG___GGAGCTGAATACACGGCTGCGGGATGACAGGGACGCCTGCGAGGCCAGGCGGGCGGGCAGCAGCTGCAGGAAGGCTCTGACAACAGCCCGCCTGCCTGGGCCCACCTGCTGCTGCTGCTGTTGCTGGGCTCGGCCCCCCAGACGCGGCTCTGGCCACCTTCCCAGTGCCCGGTGACCAGCCCCGAGTGACTCACGGACCATGAGCTAGAAGCTGCCCTTGCAGGAGGCTTGTCATGGGTCGGGGGTGCCCACTCAGGATGCAGGCTCTCCCCAGTGGGCCCCAGGCTCGCCTGACTGAAGACATGAAGGACCTAGCCTAGGAGTGGTCAGGGTCCCGGGAGTGGCCAGGGTCCCGTGTGTGCCCTCTGCCAGTCTTCGCTCTGTCCCCGTTCAATCAACCCCATCTCAGTTCAGCAGAAAACCCCCTCGTCAAATAAAACCCACTGACTGCA)$ . 05BR043 ENSG00000274447.1(45968),ENSG00000105428.6(114753) ENSG00000105426.17 ./- -/- chr19:5340664 chr19:5286234 intergenic 5'UTR deletion/read-through 6 11 0 24 54 medium . . |Fibronectin_type_III_domain(100%),Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Protein-tyrosine_phosphatase(100%) . . . ENSG00000105426.17 . ENST00000587303.5 upstream downstream duplicates(3),low_entropy(1) CGGCAGCCCGGCCGGCGCGCGCACGCCGCGAGCCGCTGGCGCTCGGGCTCCGCTCGGATCCCATGCAACAGCCACGATGTGAAGCGGGGCAGAGCCGGGGGAGCCCAGCCCAGCCAGCCTCCAG|ACGTTGCCCCATCTGACGCTCGGCTCGAGGCCTCTCTGTGAGGGACCGGGGGGCCATCCCCCTCCAGGGCGGAGATCGGAGGTCGCTGCCAAGCATGGCGCCCACCTGGGGCCCTGGCATGGTGTCTGTGGTTGGTCCCATGGGCCTCCTTGTGGTCCTGCTCGTTGGAGGCTGTGCAGCAGAAG___AGCCCCCCAGGTTTATCAAAGAACCCAAGGACCAGATCGGCGTGTCGGGGGGTGTGGCCTCTTTCGTGTGTCAGGCCACGGGTGACCCCAAGCCACGAGTGACCTGGAACAAGAAGGGCAAGAAGGTC(AACTCTCAGCGCTTTGAG___ACGATTGAGTTTGATGAGAGTGCAGGGGCAGTGCTGAGGATCCAGCCGCTGAGGACACCGCGGGATGAAAACGTGTACGAGTGTGTGGCCCAGAACTCGGTTGGGGAGATCACAGTCCATGCCAAGCTTACTGTCCTCCGAG___AGGACCAGCTGCCCTCTGGCTTCCCCAACATCGACATGGGCCCACAGTTGAAGGTGGTGGAGCGGACACGGACAGCCACCATGCTCTGTGCAGCCAGCGGCAACCCTGACCCTGAGATCACCTGGTTCAAGGACTTCCTGCCTGTGGATCCTAGTGCCAGCAATGGACGCATCAAACAGCTGCGATCAG___AAACCTTTG___AAAGCACTCCGATTCGAG___GAGCCCTGCAGATTGAAAGCAGTGAGGAAACCGACCAGGGCAAATATGAGTGTGTGGCCACCAACAGCGCCGGCGTGCGCTACTCCTCACCTGCCAACCTCTACGTGCGAG___AGCTTCGAGAAG___TCCGCCGCGTGGCCCCGCGCTTCTCCATCCTGCCCATGAGCCACGAGATCATGCCAGGGGGCAACGTGAACATCACCTGCGTGGCCGTGGGCTCGCCCATGCCATACGTGAAGTGGATGCAGGGGGCCGAGGACCTGACCCCCGAGGATGACATGCCCGTGGGTCGGAACGTGCTGGAACTCACAGATGTCAAGGACTCGGCCAACTACACCTGCGTGGCCATGTCCAGCCTGGGCGTCATTGAGGCGGTTGCTCAGATCACGGTGAAAT___CTCTCCCCAAAGCTCCCGGGACTCCCATGGTGACTGAGAACACAGCCACCAGCATCACCATCACGTGGGACTCGGGCAACCCAGATCCTGTGTCCTATTACGTCATCGAATATAAATCCAAGAGCCAAGACGGGCCGTATCAGATTAAAGAGGACATCACCACCACACGTTACAGCATCGGCGGCCTGAGCCCCAACTCGGAGTACGAGATCTGGGTGTCGGCCGTCAACTCCATCGGCCAGGGGCCCCCCAGCGAGTCCGTGGTCACCCGCACAGGCGAGCAGGCCCCGGCCAGCGCGCCGCGGAACGTGCAAGCCCGGATGCTCAGCGCGACCACCATGATTGTGCAGTGGGAGGAGCCGGTGGAGCCCAACGGCCTGATCCGCGGCTACCGCGTCTACTACACCATGGAACCGGAGCACCCCGTGGGCAACTGGCAGAAGCACAACGTGGACGACAGCCTGCTGACCACCGTGGGCAGCCTGCTGGAGGACGAGACCTACACCGTGCGGGTGCTCGCCTTCACCTCCGTCGGCGACGGGCCCCTCTCGGACCCCATCCAGGTCAAGACGCAGCAGGGAG___TGCCGGGCCAGCCCATGAACCTGCGGGCCGAGGCCAGGTCGGAGACCAGCATCACGCTGTCCTGGAGCCCCCCGCGGCAGGAGAGTATCATCAAGTACGAGCTCCTCTTCCGGGAAGGCGACCATGGCCGGGAG___GTGGGAAGGACCTTCGACCCGACGACTTCCTACGTGGTGGAGGACCTGAAGCCCAACACGGAGTACGCCTTCCGCCTGGCGGCCCGCTCGCCGCAGGGCCTGGGCGCCTTCACCCCCGTGGTGCGGCAGCGCACGCTGCAGTCCA___AACCGTCAGCCCCCCCTCAAGACGTTAAATGTGTCAGCGTGCGCTCCACGGCCATTTTGGTAAGTTGGCGCCCGCCGCCGCCGGAAACGCACAACGGGGCCCTGGTGGGCTACAGCGTCCGCTACCGACCGCTGGGCTCAGAGGACCCGGAACCCAAGGAGGTGAACGGCATCCCCCCGACCACCACTCAGATCCTGCTGGAGGCCTTGGAGAAGTGGACCCAGTACCGCATCACGACTGTCGCTCACACAGAGGTGGGACCAGGGCCCGAGAGCTCGCCCGTGGTCGTCCGCACCGACGAGGATG___TGCCCAGCGCGCCGCCGCGGAAGGTGGAGGCGGAGGCGCTCAACGCCACGGCCATCCGCGTGCTGTGGCGCTCGCCCGCGCCCGGCCGGCAGCACGGCCAGATCCGCGGCTACCAGGTCCACTACGTGCGCATGGAGGGCGCCGAGGCCCGCGGGCCGCCGCGCATCAAGGACGTCATGCTGGCCGATGCCCAG___TGGGAGACGGATGACACGGCCGAATAT___GAGATGGTCATCACAAACTTGCAGCCTGAGACCGCGTACTCCATCACGGTAGCCGCCTACACCATGAAGGGCGATGGCGCTCGCAGCAAACCCAAGGTGGTTGTGACCAAGGGAGCAG___TGCTGGGCCGCCCAACCCTGTCGGTGCAGCAGACCCCCGAGGGCAGCCTGCTGGCACGCTGGGAGCCCCCGGCTGGCACCGCGGAGGACCAGGTGCTGGGCTACCGCCTGCAGTTTGGCCGTGAGGACTCGACGCCCCTGGCCACCCTGGAGTTCCCGCCCTCCGAGGACCGCTACACGGCATCAGGCGTGCACAAGGGGGCCACGTATGTGTTCCGGCTTGCGGCCCGGAGCCGCGGCGGCCTGGGCGAGGAGGCAGCCGAGGTCCTGAGCATCCCGGAGGACACGCCCCGTGGCCACCCGCAGATTCTGGAGGCGGCCGGCAACGCCTCGGCCGGGACCGTCCTTCTCCGCTGGCTGCCACCCGTGCCCGCCGAGCGCAACGGGGCCATCGTCAAATACACGGTGGCCGTGCGGGAGGCCGGTGCCCTGGGCCCTGCCCGAGAGACTGAGCTGCCGGCAGCGGCTGAGCCGGGCGCGGAGAACGCGCTCACGCTGCAGGGCCTGAAGCCCGACACGGCCTATGACCTCCAAGTGCGAGCCCACACGCGCCGGGGCCCTGGCCCCTTCAGCCCCCCCGTCCGCTACCGGACGTTCCTGCGGGACCAAG___TCTCGCCCAAGAACTTCAAGGTGAAAATGATCATGAAGACATCAGTTCTGCTCAGCTGGGAGTTCCCTGACAACTACAACTCACCCACACCCTACAAG___ATCCAGTACAATGGGCTCACACTGGATGTGGATGGCCGTACCACCAAGAAGCTCATCACGCACCTCAAGCCCCACACCTTCTACAACTTTGTGCTGACCAATCGCGGCAGCAGCCTGGGCGGCCTCCAGCAGACGGTCACCGCCTGGACTGCCTTCAACCTGCTCAACGGCAAGCCCAGCGTCGCCCCCAAGCCTGATGCTGACGGCTTCATCATGGTGTATCTTCCTGACGGCCAGAGCCCCGTGCCTGTCCA___GAGCTATTTCATTGTGATGGTGCCACTGCGCAAGTCTCGTGGAGGCCAATTCCTGACCCCGCTGGGTAGCCCAGAGGACATGGATCTGGAAGAG___CTCATCCAGGACATCTCACGGCTACAGAGGCGCAGCCTGCGGCACTCGCGTCAGCTGGAGGTGCCCCGGCCCTATATTGCAGCTCGCTTCTCTGTGCTGCCACCCACGTTCCATCCCGGCGACCAGAAGCAGTATGGCGGCTTCGATAACCGGGGCCTGGAGCCCGGCCACCGCTATGTCCTCTTCGTGCTTGCCGTGCTTCAGAAGAGCGAGCCT___ACCTTTGCAGCCAGTCCCTTCTCAGACCCCTTCCAGCTGGATAACCCGGACCCCCAGCCCATCGTGGATGGCGAGGAGGGGCTTATCTGGGTGATCGGGCCTGTGCTGGCCGTGGTCTTCATAATCTGCATTGTCATTGCTATCCTGCTCTACAAGAA___CAAACCCGACAG___TAAACGCAAGGACTCAGAACCCCGCACCAAATGCCTCCTGAACAATGCCGACCTCGCCCCTCACCACCCCAAGGACCCTGTGGAAATGAGACGCATTAACTTCCAGACTCCAG___ATTCAGGCCTCAGGAGCCCCCTCAGGGAGCCGGGGTTTCACTTTGAAA___GCATGCTTAGCCACCCGCCAATTCCCATCGCAGACATGGCGGAGCACACGGAGCGGCTCAAGGCCAACGACAGCCTCAAGCTCTCCCAGGAGTATGAG___TCCATCGACCCTGGACAGCAGTTCACATGGGAACATTCCAACCTGGAAGTGAACAAGCCGAAGAACCGCTATGCCAACGTCATCGCCTATGACCACTCCCGTGTCATCCTCCAGCCCATTGAAG___GCATCATGGGCAGTGATTACATCAATGCCAACTACGTGGACGGCTACCGGTGTCAGAACGCGTACATTGCCACGCAGGGGCCGCTGCCTGAGACCTTTGGGGACTTCTGGCGTATGGTGTGGGAGCAGCGGTCGGCGACCATCGTCATGATGACGCGGCTGGAGGAGAAGTCACGG___ATCAAGTGTGATCAGTATTGGCCCAACAGAGGCACGGAGACCTACGGCTTCATCCAGGTCACGTTGCTAGATACCATCGAGCTGGCCACATTCTGCGTCAGGACATTCTCTCTGCACAAG___AATGGCTCCAGTGAGAAACGCGAGGTCCGCCAGTTCCAGTTTACGGCGTGGCCGGACCATGGCGTGCCCGAATACCCAACGCCCTTCCTGGCTTTCCTGCGGAGAGTCAAGACCTGCAACCCGCCAGATGCCGGCCCCATCGTGGTTCACTGCAG___TGCCGGTGTGGGCCGCACAGGCTGCTTTATCGTCATCGACGCCATGCTTGAGCGGATCAAGCCAGAGAAGACAGTCGATGTCTATGGCCACGTGACGCTCATGAGGTCCCAGCGCAACTACATGGTGCAGACGGAGGACCAGTACAGCTTCATCCACGAGGCCCTGCTGGAGGCCGTGGGCTGTGGCAACACAGAAGTGCCCGCACGCAGCCTCTATGCCTACATCCAGAAGCTGGCCCAGGTGGAGCCTGGCGAACACGTCACTGGCATGGAACTCGAGTTCAAG___CGGCTGGCTAACTCCAAGGCCCACACGTCACGCTTCATCAGTGCCAATCTGCCTTGTAACAAGTTCAAGAACCGCCTGGTGAACATCATGCCCTATGAGAGCACACGGGTCTGTCTGCAACCCATCCGGGGTGTGGAGGGCTCTGACTACATCAACGCCAGCTTCATTGATGGCTACAG___GCAGCAGAAGGCCTACATCGCGACACAGGGGCCGCTGGCGGAGACCACGGAAGACTTCTGGCGCATGCTGTGGGAGAACAATTCGACGATCGTGGTGATGCTGACCAAGCTGCGGGAGATGGGCCGG___GAGAAGTGTCACCAGTACTGGCCGGCCGAGCGCTCTGCCCGCTACCAGTACTTTGTGGTAGATCCGATGGCAGAATACAACATGCCTCAGTATATCCTGCGAGAGTTCAAGGTCACAGATGCCCGG___GATGGCCAGTCCCGGACTGTCCGGCAGTTCCAGTTCACAGACTGGCCGGAACAGGGTGTGCCAAAGTCGGGGGAGGGCTTCATCGACTTCATTGGCCAAGTGCATAAGACTAAGGAGCAGTTTGGCCAGGACGGCCCCATCTCTGTCCACTGCAG___TGCCGGCGTGGGCAGGACGGGCGTCTTCATCACGCTTAGCATCGTGCTGGAGCGGATGCGGTATGAAGGCGTGGTGGACATCTTTCAGACGGTGAAGATGCTACGAACCCAGCGGCCGGCCATGGTGCAGACAGAG___GATGAGTACCAGTTCTGTTACCAGGCGGCACTGGAGTACCTCGGAAGCTTTGACCACTATGCAACCTAAAGCCATGGTTCCCCCCAGGCCCGACACCACTGGCCCCGGATGCCTCTGCCCCTCCCGGGCGGACCTCCTGAGGCCTGGACCCCCAGTGGGCAGGGCAGGAGGTGGCAGCGGCAGCAGCTGTGTTTCTGCACCATTTCCGAGGACGACGCAGCCCCTCGAGCCCCCCCACCGGCCCCGGCCGCCCCAGCGACCTCCCTGGCACCGGCCGCCGCCTTCAAATACTTGGCACATTCCTCCTTTCCTTCCAATTCCAAAACCAGATTCCGGGGTGGGGGGTGGGGGGATGGTGAGCAAATAGGAGTGCTCCCCAGAACCAGAGGAGGGTGGGGCACAGACCATAGACGGACCCCTCGTCCTCCCCCAGCGGTGGTAGGGGGACCCGGGGGGCTCCTCCCCGCTCTGCAGC)$ . 05BR043 ENSG00000154380.17 ENSG00000143819.12 -/- +/- chr1:225592865 chr1:225814252 intron intron duplication/5'-5' 6 7 2 14 14 medium . . . . . ENSG00000154380.17 ENSG00000143819.12 . . upstream downstream duplicates(7),low_entropy(1) AATGTGAACTATGAAACTCCTGAGAAATCTGTTTGCTCTTCAGGGTGGCTAGACGTCTTTAGTCTGTGTGTGGGGGGAAGGTCTACTATGTGCCATCTCTTATCAATCTTTTCTGGCATTTTTGTTATATGATAGTTATAGCTATATGGT...CTTGGAACTAAACTATTTTGAACTTCGTTTGATATAGCAAATTTGTGCCAGGGGTCATCTGGCATGTCATGTTTAGGGGCCGTATTCCTCATCTGTGTGGAGGAACTAGATGTGGAGAGAGAAAGAGAAATAAATATGTTTCCCCAGCTGTAGTGGACAGGCTGTTTTTCAGGACAGAATTTTACAACTTTTATAAAGT|TAATTTATTCTTTATAGAGACGAGGTCTCACTTTGTTGCCCAGGCTGGTCTCAGAACTCCTGGGCTCAAGTGATCCACCCACCTCAGCTTCCCAAAATGCTGGGATTACAGGTGTGCGCCATCTTGCCCAGCCACTTTTTCTGTTTTAAAAAGAATTAAAAATGAAGCTCAGATATGTGAAGTAGTTAATCCAGCTCTTAAGTACCAAAAAGACATTCAAATTCAGTCTCTATTCATCAAACTTCCCAAATGCTAAAGGCAGCAAAAACTCCTGCTCCCGACCTAAGAACAAG . 05BR043 ENSG00000167196.14 ENSG00000181234.9 +/+ +/- chr15:75938668 chr12:128327522 3'UTR intron translocation/5'-5' 0 9 2 54 15 medium stop-codon . F-box_domain(100%),FIST_C_domain(100%)| . . ENSG00000167196.14 ENSG00000181234.9 ENST00000308275.8 . downstream downstream duplicates(3),mismappers(5) ^(AGTGCGCGCCGGCCGGGCAACCCTATGCTGGCGTAATCGGGTTCCTCCGAGCCGCCGTAGGACTGGTTCCGGCGGGCTGGTGAGGAATGGAGCCGGTAGGCTGCTGCGGCGAGTGCCGCGGCTCCTCCGTAGACCCGCGGAGCACCTTCGTGTTGAGTAACCTGGCGGAGGTGGTGGAGCGTGTGCTCACCTTCCTGCCCGCCAAGGCGTTGCTGCGGGTGGCCTG___CGTGTGCCGCTTATGGAGGGAGTGTGTGCGCAGAGTATTGCGGACCCATCGGAGCGTAACCTGGATCTCCGCAGGCCTGGCGGAGGCCGGCCACCTGGAGGGGCATTGCTTGGTTCGCGTGGTAGCAGAGGAGCTTGAG___AATGTTCGCATCTTACCACATACAGTTCTTTACATGGCTGATTCAGAAACTTTCATTAGTCTGGAAGAGTGTCGTGGCCATAAGAGAG___CAAGGAAAAGAACTAGTATGGAAACAGCACTTGCCCTTGAGAAGCTATTCCCCAAACAATGCCAAGTCCTTGGGATTGTGACCCCAGGAATTGTAG___TGACTCCAATGGGATCAGGTAGCAATCGACCTCAGGAAATAGAAATTGGAGAATCTGGTTTTGCTTTATTATTCCCTCAAATTGAAGGAATAAAAATACAACCCTTTCATTTTATTAAGGATCCAAAGAATTTAACATTAGAAAGACATCAACTCACTGAAGTAG___GTCTTTTAGATAACCCTGAACTTCGTGTGGTCCTTGTCTTTGGTTATAATTGCTGTAAGGTGGGAGCCAGTAATTATCTGCAGCAAGTAGTCAGCACTTTCAGTGATATGAATATCATCTTGGCTGGAGGCCAGGTGGACAACCTGTCATCACTGACTTCTGAAAA___GAACCCTCTGGATATTGATGCCTCGGGTGTGGTTGGACTGTCATTTAGTGGACACCGAATCCAGAGTGCCACTGTGCTCCTCAACGAGGACGTCAGTGATGAGAAGACTGCTGAGGCTGCGATGCAGCGCCTCAAAGCGGCCAACATTCCAGAGCATAACACCATTGGCTTCATGTTTGCATGCGTTGGCAGGGGCTTTCAGTATTACAGAGCCAAGGGGAATGTTGAGGCTGATGCATTTAGAAAGTTTTTTCCTAGTGTTCCCTTATTCGGCTTCTTTGGAAATGGAGAAATTGGATGTGATCGGATAGTCACTGGGAACTTTATATTGAGGAAATGTAATGAGGTAAAAGATGATGATCTGTTTCATAGCTATACAACAATAATGGCACTCATACATCTGGGGTCATCTAAATAATAATTAAAGTGGCTTTCATAATATGTAACTTTTGGGTTCTGCCTTTTTCAGAAAATGGAAACTTGGGCCATGTGTATTTCAAACAAAAATAACTTTAGATATATCTTTTTTGTAGCTTTGATTGATGCTCTAAGATCACATGAGGGTAGTATTTAATATATTAGATGAAGGACAACTTTGGACATAACACTGACTAGGAGTTGAGAGCTTTTGCATCAGGCAGAAGCAAACTGATTATAGTTGTGTTGCACCAGATCATGTAGCTGCTGTGTAACATGACCTTAAATAGTCTTCCTGCATAGGAAGAGCAAAAGGGTATTCATCAATAGGATATAGATTTAAGACATTCCCTGACTACCCCTTGCGTTGTTAGGTGATGTCTTTTAGCAGAATCATGAAGACCTTTTTTCTCCCTTAATAAAGGAGAAAAATATACTGATGGCTGGAGAAATTTTTCTCTGCCTTTCAGTTTTATGAATTTTTTCAGAAGTAACAATATTATTATTGACTTTTTACTTATTTGATAAAAATTAAAGAACTATTTTTGTTTTGGTCAGATAAATTGACAAGACTAATCAGTATTTTATTATAAGTAAAAGATTTTTCTTCTTTCCTTAAAAATATTTTTTTTTCACCTAGGTCTAAATAGCTAACTAACTGGTAGACCAGAGTATTACATCATCTTATTTTGGTTTTATACCAATAAAACATAGCGTGGAACTCATTCAGGTAATGTTTTGCATTTCATTGCTTTTGGATGAACAAAGGAAGTAAACTAATCCTTTATAAATGAAAACCCAGAATAGTTGGTATGTCAGCTAGTCATTCCTGTCATATTCCCAGTAGAATGATTTTCAAGTTTGAATTTCTGTACAAATATCTAAATAAGAGATGTGCAGAGAGCACCAATTTTCCTTCAATATCCATTCTTTACTTTTCACATAATGATAGAACCTTTGATTTTTCAAGTGGGTATGCCTCCTAGAATAAAGACTACATTTCCCAGTCTCCTGTGCAGGTATGACTGTGTTCTGGACAATGGAATGTGAGGGGAAACGATTTTTTGTGTCCTTAAAATGGCATGACCATTTATTTGCCCCTTTCTCCATCCTGTTGCTTGGAATGTGGATCTGGTAGTGAGCCATCTTGGACCCTGAAGAGGAGGCAACACACCATTGTAGAAGAAAAACAACAGAAGGATCCTGGTCCCTGTACGACCTCATTGAAGAAACACCATAAGTGGCGTGGACTATCTACCTCCAGACTGTTTTACAAGAGAGAAATTAGCATATTCCATCTAATACAGTATGATGTAACTAATGTTACTTTTGTAACAGTCAGTGGTTTGTTCTAACAGGACAGTAGAACACTTGCAAGGTAAGTAAAACCAAATGTATTAGCATTATTCCTGCTTTTCCTTTTTTGTCACTTTTATCCTTTTTTTAAAACTGAAAATATTTTTCTCTTGCTATTTATATATATATGATAAAAATGCTTGGAAGAGTCCTTTAATTTATGGTTATTCTAAATCCTAGTTCCTGAGGCAAGTCCAAAGAAAAATTTGTCAAAACTTTTCATCTATGAATATTTATATTTAGCTCTTGCTATTTAGCTATTATCAAAATACCTCAAAATTTTAGTCCTTGAATGTGCTCATATAGCCCATAAGGCAAATATTTTTTAAACTTTATTGTCCCTGATATTAACCAGAATTGGTTGAATAGTAGAGGAAAAGGGATTTTTAAAACTGAAAATATGAACAAAATGAGCCTTAGAATTGAATGGATTATTTTAAACAAATTAATACTCATATAAAATGTTTTGCTGCTTCTCAAAGAGTCTGATACAGGGTAATTTCATACAATATTTGATGTTGTTAAAGCATTCCTTTTTATAGCTGAGCCTTTGGAGCTTGTTATGAACAGTAAAATCATTTAGTCACATGGTTGTAACCTTAGTGCAAAGTAAAAAGGGAAAAGTTGACCTAATAGAAACAATAGTAGTATTGATAAGAACAAAAGTCATCCTCCCTGCCTCTCAGAGGCCCTGAAGTCCTGTGAGGAAGGGAAATAGTAATTTAACCAAAGTTAAATCTGTGTAACTCATTTATTACAATTTTGAAAGGCTTGTCTTAGAAGCATTAAAGGAGTATTAGCTAAAAACAAACTAAATTCCTAGAGATGACAATCATTGTAGTCCTCTGTGAAACTGAAAATGATCACATGAAAAAAATGTGAGCATAAAAAAGAGAAGTAAAGGTGTACCATTAGCCTACATACTGAGCTGACGATCAGATCATAGAATACTTTATTTAATCAAGACATTTAAAAATACTTATTTCATCTACATACTTTCAAAGCAAAATAATTTCTGGGGCTAGTTTCCTTTGTATAAGGCTTAAGCAAGGAATATATTTCCATGCCCTTTGATCCAAGTAAAATCTAAGGAAGAGGGAAAGTAAACCTTGAAATTAAGACCTAGAAATAGATCCACCCTTGCAGACTGATAAAAGTGGGCAATCTAGTAGGCCAGTTCACATTACAGTTATCTCAGTTTTGCTTAAAGCAAACCCTAACCCTCAACCTACGAGGCCAGATAGCAAAAGACGTGCAACTGGTTTATATTGCAAATTTAACAAAGTGAACATGCAAAGAATTACAATAGAAATAAACTTTTACAAATCTGAGAACTTTCTTTTTTTTTGAGACGGAGTCCCGCTCTTTAGCCCAGGCCGGATTGCAATGGCACAATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCACAAATCTGAGAACTTTCTATGCAATCTGCAGAAATTTTTAAGAATATAAATATGCTTTTGTCATTTTATACCCAGTCTGGCCCAGGTTTGCACTGCCATAAATTCAGTTTTAATGGGAACAGAAGACTCCAGATCCTCTTGATGGGAAGAAATCATGAAATTTTAGATGATTGACTTGGTTTTCATTTGTAGAAACTGGGTATGAGTTGGCTTAATGAAAATCCTAAAATAATAAAATAAGCATTAGTAATAATATCCTTGTTAAATGAACAAAGTGAATACGATATAAAGAATGTGATACCAGAAAGTTACTTTAATATTGACCCTATATAGGGAAGAATAATCAAATATTTGCAAAATATGTTATTTTTGTTTTATATATTTAACTTCTACCCTATGCCACAACTGAAGACAGGTTACAAGAACATGTGCTACTACAAAGTAGGAAACTGGCAGAAGCCAATAAGTATCACTTAATATTTTGGTATGGAAACTTTTTTTTTTTTGAGAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTATAATGGCACAATCTCGACTCATTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTGTGTTGGTCAGGCTGGCCTCAGACTCCAACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCTGGAAACTTTCATTTCTTAAAACAGATTTATAAAAGTTTTTGCTATATAGTGACTGTTAGCCAGTAAAAACAGGGAAGATTGATTAATTTAGAAGAAATTGAAAGAAAATATATTTATTAATGTTGCTTTTAAATGCAAATTATCAGATTGAGGAGAATTTTGAGACCATTGACATTTTTCTAATTATGACTAAAATTTAATCACTATACTTAATAAACATACTCTATTCAAGGTCTTGTAATAAAATTATAGGGAGGAATAAAACATAATTGACCCCAGCGACATCAGCAAAAATGGGTGGACTAGGAAGCTGCAAGCTTTTGTTTGCCTATCAAAACATTAAAAAAAAAAAAGAGGCCGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAGTACACAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAATGGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGCAACTGTCTGAACGAACCTTGTTAGAGCTTTGGAAAACAGTCAAAGGTTTACAGCAACCAAAAGAATGCCCAATCATCTGCAGAATGGTAGGAAAATATTGTGACTTTTTAGTGGCTCTTGCCCGAGCCTCTCCCTACATTGTGGCAGTCTTAAAGCAGCAGAAGCCCAGTCCCCTCCCTTGAACTGGAGAAAACATGCTAGACCTTTTTTGCAAATTACTGTGTACATTTTTTTCTAACCTGTCTGCGGATACTTGAAGGACTGACACAAGGTCACATGTTTGTTTTGCCTAACTGGTAGGGTGGGCACTGCTTACAAAAGCTGCAAAGAACCACAGGTGCATGGGGCAAGAGGTTATGGGTGTAAACATAAAATAGAACAACTAAGGCCCAGAGGAGAATCTGGGGTAAGACTTTGGGAAATTAAGAACAGTTACATATACAGGGGGGATTTAAAATGCGACATGCATGCCCAGGGAAAACACTTGCCCGGAAAGTTCTAAGACCCAAGCTTTCACCTTGGTCTGGTCCCTAAGCCCAAAAGCAGGCCAAAGTAAGTATTGAAGGATTACCTGGGACAAAGCTGATTTGTAAAATCTAGGATTGCTCCTAGCATTCAAGGGAATTTATGTCAAAATAGCTGAACGTGACATAAAAGGAAGAGAGACTTCAGTGATCACACACAGAAGGAATAGTCTTTTATAAAAATAATTTGGAAAACTCTCAAAACAAATGGATGACAGCTTTTAAAAATAAAAAAACAATGAACCAGAAAACCGTGGGGAAAGGAAAGAATCTCATACCTAGAGTTACCATATTATAATAGTGAATATCCAACTCTCAAGGAAAAAAATCACAAACCATACAAAGGAACAGGAAAATAATGCGCATTCAAAAGATCAAAATTAATTGACCTTGTCCTAATGA)AGGACATTAAACTAGACATATACTTTAACTCAAATATGCCCAAAGAACTAAAGGAAAACATGAACAAAGAATTAAAGAAATCAGGAAAATGATAAATGAACAAAATCAGAATATCAACAGATAGGCATTATAAAAAAATTCTGGCAGAGAAAAGTATAATAAATGAAATTTTCACTACAGGGGTTCAGCAGCAGATATAAGCAGGTAG|TAGTCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATGGTGAGAAGCCAGGAGGCGGAGGTTGCAGTGAGCCGGGATCGCGCCACTACACTCCAGCCTGGGTGAAAGTGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACAAACAAACAAACAAACCAAGCTGCGCCCCGGGCACCTGGGGCACACGTTCTCAGGATCTCCTGTGGGCTGTGTCTCGGGCCATGGTCACTCATGTTTGGCTCAGAATAAGTCTCTTCAAATATTTTACAGGGTCTCTTTTTGTCGACAACTCCTTGTTTAATTTTCA . 05BR043 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 8 3 0 22 464 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream duplicates(3) ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGT)CAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGA(AGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 05BR043 ENSG00000165813.20 ENSG00000165813.20 -/- -/+ chr10:114134955 chr10:114135237 CDS intron inversion/5'-5' 5 3 1 20 15 medium out-of-frame . . . . ENSG00000165813.20 ENSG00000165813.20 ENST00000369287.8 . upstream upstream inconsistently_clipped(1),mismatches(1) ^(ATCTTTGTTGATGTGTCAGCTCCGCAGGGGTTTGGGGAAACGGCCGCTGAGTGAGGCGTCGGCTGTGTTTCTCACCGCGGTCTTTTCCTCCCACTCTTGGCTGGTTGGACCCCGCTATGGAAAAGTTGGCCCCTGAGCCAGAGCTCCAGCAGCCTTGTTAGGGCGTGGCCTGAGGCTTGGATAAGTGGG___ATGTAAAACGAAGATCAGGAGCAGATTTGAAGAATTACAAAGTGAATTGGTGCCAGTCAGCATGTCAGAGACAGACCACATAGCCTCTACTTCCTCTGATAAAAATGTTGGGAAAACACCTGAATTAAAGGAAGACTCATGCAACTTGTTTTCTGGCAATGAAAGCAGCAAATTAGAAAATGAGTCCAAACTATTGTCATTAAACACTGATAAAACTTTATGTCAACCTAATGAGCATAATAATCGAATTGAAGCCCAGGAAAATTATATTCCAGATCATGGTGGAGGTGAGGATTCTTGTGCCAAAACAGACACAGGCTCAGAAAATTCTGAACAAATAGCTAATTTTCCTAGTGGAAATTTTGCTAAACATATTTCAAAAACAAATGAAACAGAACAGAAAGTAACACAAATATTGGTGGAATTAAGGTCATCTACATTTCCAGAATCAGCTAATGAAAAGACTTATTCAGAAAGCCCCTATGATACAGACTGCACCAAGAAATTTATTTCAAAAATAAAGAGCGTTTCAGCATCAGAGGATTTGTTGGAAGAAATAGAATCTGAGCTCTTATCTACGGAGTTTGCAGAACATCGAGTACCAAATGGAATGAATAAGGGAGAACATGCATTAGTTCTGTTTGAAAAGTGTGTGCAAGATAAATATTTGCAGCAGGAACATATCATAAAAAA___GTTAATTAAAGAAAATAAGAAGCATCAGGAGCTCTTCGTAGACATTTGTTCAGAAAAAGACAATTTAAGAGAAGAACTAAAGAAAAGAACAGAAACTGAGAAGCAGCATATGAACACAATTAAACAG___TTAGAATCAAGAATAGAAGAACTTAATAAAGAAGTTAAAGCTTCCAGAGATCAACTAATAGCTCAAGACGTTACAGCTAAAAATGCAGTTCAGCAGTTACACAAAGAGATGGCCCAACGGATGGAACAG___GCCAACAAGAAATGTGAAGAGGCACGCCAAGAAAAAGAAGCAATGGTAATGAAATATGTAAGAGGTGAGAAGGAATCTTTAGATCTTCGAAAGGAAAAAGAGACACTTGAGAAAAAACTTAGAGATGCAAATAAGGAACTTGAGAAAAACACTAACAAAATTAAGCAGCTTTCTCAGGAGAAAGGACGGTTGCACCAGCTGTATGAAACTAAG___GAAGGCGAAACGACTAGACTCATCAGAGAAATAGACAAATTAAAGGAAGACATTAACTCTCACGTCATCAAAGTAAAGTGGGCACAAAACAAATTAAAAGCTGAAATGGATTCACACAAG___GAAACCAAAGATAAACTCAAAGAAACAACAACAAAATTAACACAAGCAAAGGAAGAAGCAGATCAGATACGAAAAAACTGTCAGGATATGATAAAAACATATCAG___GAGTCAGAAGAAATTAAATCAAATGAGCTTGATGCAAAGCTTAGAGTCACAAAAGGAGAACTTGAAAAACAAATGCAAGAAAAATCTGACCAGCTAGAG___ATGCATCATGCCAAAATAAAGGAACTAGAAGATCTGAAGAGAACATTTAAGGAGGGTATGGATGAGTTAAGAACACTGAGAACAAAG___)GTGAAATGTCTAGAAGATGAACGATTAAGAACAGAAGATGAATTATCAAAATATAAGGAAATTATTAATCGCCAAAAAGCTGAAATTCAGAATTTATTGGA|GTTTTAGCATGTCATTTCACTTTTTACTGAATCACCATCTCCTCACCTGAAAAAGAATATATCTCCTCTACCTCAAAAAACTGGCAAGAAGAACAAATAAGAAGGTGTATGAAAAACAATTTAAAATTATTAAGTGACCTCAAATTCAGGGTGGTTAAAGGACTACTTCTAAATAAATGAATGATACACATTCATATTCATATTAGAAGACATACTAATCTTACAATAAAGACTATAAAC MSETDHIASTSSDKNVGKTPELKEDSCNLFSGNESSKLENESKLLSLNTDKTLCQPNEHNNRIEAQENYIPDHGGGEDSCAKTDTGSENSEQIANFPSGNFAKHISKTNETEQKVTQILVELRSSTFPESANEKTYSESPYDTDCTKKFISKIKSVSASEDLLEEIESELLSTEFAEHRVPNGMNKGEHALVLFEKCVQDKYLQQEHIIKKLIKENKKHQELFVDICSEKDNLREELKKRTETEKQHMNTIKQLESRIEELNKEVKASRDQLIAQDVTAKNAVQQLHKEMAQRMEQANKKCEEARQEKEAMVMKYVRGEKESLDLRKEKETLEKKLRDANKELEKNTNKIKQLSQEKGRLHQLYETKEGETTRLIREIDKLKEDINSHVIKVKWAQNKLKAEMDSHKETKDKLKETTTKLTQAKEEADQIRKNCQDMIKTYQESEEIKSNELDAKLRVTKGELEKQMQEKSDQLEMHHAKIKELEDLKRTFKEGMDELRTLRTKVKCLEDERLRTEDELSKYKEIINRQKAEIQNLLe|f* 05BR043 ENSG00000176542.10 ENSG00000241560.7 -/- +/- chr3:113660591 chr3:114370560 CDS exon duplication/5'-5' 2 2 0 28 8 medium out-of-frame . Helix-loop-helix_DNA-binding_domain(100%)| . . ENSG00000176542.10 ENSG00000241560.7 ENST00000316407.9 . upstream downstream . ^(GGGAAAGTTGAGGCCGCGCTGCCGCCGGGTCTCCGGCCTTGAGGGCTCGGGCTCGCAGCGGCTGCGGTGGCCGCAAAAAGAGGCGGCGGGGGCGGGGGGAGAGGAGGGCCTGGGCCCGCGCTCCCCCAGCCCCGGAGGAGCAGGCGGTGGCCGCGGACGGAGAGATTCGCCCAGACGGTCAGACACTCCTGCCTTCCCCTCCTGGGATCATGACCCAGGCGGGGGTCGCCGCCGTCGCCGCCGCCACCGCGGCCGAGACCGCGCAGCCGGCGG___TAAGAAGAAAGCATAACCCATAGACCATCTTCTGGCAGAAGATGATACATTTGGATCAGAAACGGGAGGCATTGGAAGCCAGGAATCAAAAGTGAAGAAACTCTGCAAGCCCTTAG___GTTCCTATTACTGTAACCATGCCAGAAATGACAGAGAATGAGACGCCTACAAAAAAGCAGCACAG___AAAGAAAAACCGGGAGACACACAATGCAG___TGGAGAGGCATAGAAAGAAGAAAATTAATGCTGGGATAAACAGAATAGGAGAGCTGATCCCATGTTCTCCTGCCCTGAAGCAG___AGCAAGAATATGATCCTGGACCAAGCCTTTAAATATATAACAGAATTGAAAAGGCAAAATGATGAACTCCTGCTTAATGGAGGAAACAATGAACAAG___CTGAAGAAATAAAAAAGCTACGGAAACAACTGGAAGAAATCCAAAAAGAAAATGGCCGATATATTGAATTACTGAAAGCTAATGACATATGCTTATATGATGACCCGACAATTCACTGGAAAGGAAATCTTAAAAACTCAAAGGTCTCTGTTGTTATTCCTAGTGACCAGGTTCAAAAAAAAATTATTGTTTATTCCAACGGGAATCAGCCTGGTGGAAACAGCCAGGGAACAGCTGTTCAGGGGATAACTTTTAATGTTAGTCATAATTTACAAAAGCAGACCGCCAATGTGGTGCCAGTACAGAGGACTTGCAATCTTGTGACTCCTGTATCTATTTCTGGAGTTTACCCTTCTGAAAACAAGCCATGGCATCAGACCACAGTTCCTGCATTGGCTACCAACCAGCCTGTTCCTCTTTGTCTTCCTGCTGCCATTTCTGCTCAGAGTATTCTCGAGCTTCCCACCTCTGAAAGCGAATCAAATGTGCTTGGTGCCACTAGTGGCTCACTGATTGCTGTTTCAATTGAATCTGAGCCTCACCAACATCATTCTTTGCACACATGCCTAAATGATCAAAATTCTTCTGAAAATAAGAATGGACAAGAGAACCCCAAAGTATTGAAGAAAATGACCCCTTGTGTTACAAA)CATCCCCCACAGCTCCTCAGCAACTGCCACTAAAGTGCACCATGGAAACAAGTCCTGCCTGAGCATACAGGACTTCAGAGGTGATTTTCAAAACACTTTTGTTGTTTCAGTTACCACCACAGTCTGCTCGCAGCCTCCCAGAACTGCAGGTGATTCTTCTCCAATGAGCATTAGTAAGAGTGCAGA|AAAGAAAAGAGAGTTCTAAGGGATAGGAGAAAAACCAGGATAGTGCAGAGAGACCATCAGGGAGAGGAAGGATCAGCAGTCAGTATCAGGTGCCACAGACACCAACGAGGGAGAGACCTAGGAAAAGATTACCTTAGGTTTTGGGATTACTAGCCTCCTGATTGTTGTCAAGAAAA MPEMTENETPTKKQHRKKNRETHNAVERHRKKKINAGINRIGELIPCSPALKQSKNMILDQAFKYITELKRQNDELLLNGGNNEQAEEIKKLRKQLEEIQKENGRYIELLKANDICLYDDPTIHWKGNLKNSKVSVVIPSDQVQKKIIVYSNGNQPGGNSQGTAVQGITFNVSHNLQKQTANVVPVQRTCNLVTPVSISGVYPSENKPWHQTTVPALATNQPVPLCLPAAISAQSILELPTSESESNVLGATSGSLIAVSIESEPHQHHSLHTCLNDQNSSENKNGQENPKVLKKMTPCVTNIPHSSSATATKVHHGNKSCLSIQDFRGDFQNTFVVSVTTTVCSQPPRTAGDSSPMSISKSAe|kkref* 05BR043 ENSG00000251503.8 ENSG00000183087.15 +/+ -/- chr1:10430568 chr13:113848050 CDS/splice-site CDS/splice-site translocation 0 4 0 43 79 medium in-frame . |Calcium-binding_EGF_domain(100%),Coagulation_Factor_Xa_inhibitory_site(100%),Laminin_G_domain(100%),Vitamin_K-dependent_carboxylation/gamma-carboxyglutamic_(GLA)_domain(100%) . . ENSG00000251503.8 ENSG00000183087.15 ENST00000400900.6 ENST00000327773.7 downstream downstream duplicates(2) ^(GGAGCTCCTGATAATGTGTACTGCGTTACATGATCTGTAAATCGTGGGCTACGCATCCTCTACACCCGACTGGAACACGCTTTGCACCTATGCGCACACGTGTTTCGCGGAGAGTGGTGCTCAGCGTTGTGCCAGGCGCTGAATCAGGCTCTGGGGTGCAGCAGTGACCTCGGTGGTCATGTCCCCGCGTCGCCCGGCCACCTCCGCAGAGCAAGCTGAGCAGGGGGCTGGCTGGAGGCCGACGGCGGAATCCCCTCAACGGAGCGCCGCCAGGGGGCGCGCGAGGCAGGGCGGAGCTGCGTACTTTGTCCGCCCGCGCGGCCCGTCGCTCGCGCCGCGGCGGGAAAATCCGACCTGGCCGCGCACCACCGCCCCTT)CTCGGCCCTCCTGCGTTTGCCCAGGGTCGGCCCGCAGTGATGGAGGAGGAGGCGGAGACCGAGGAGCAGCAGCGATTCTCTTACCAACAG|GATTATTTTTACCCAAGATACTTAG___ACTGCATCAACAAGTATGGGTCTCCGTACACCAAAAACTCAGGCTTCGCCACCTGCGTGCAAA___ACCTGCCTGACCAGTGCACGCCCAACCCCTGCGATAGGAAGGGGACCCAAGCCTGCCAGGACCTCATGGGCAACTTCTTCTGCCTGTGTAAAGCTGGCTGGGGGGGCCGGCTCTGCGACAAAG___ATGTCAACGAATGCAGCCAGGAGAACGGGGGCTGCCTCCAGATCTGCCACAACAAGCC(GGGTAGCTTCCACTGTTCCTGCCACAGCGGCTTCGAGCTCTCCTCTGATGGCAGGACCTGCCAAG___ACATAGACGAGTGCGCAGACTCGGAGGCCTGCGGGGAGGCGCGCTGCAAGAACCTGCCCGGCTCCTACTCCTGCCTCTGTGACGAGGGCTTTGCGTACAGCTCCCAGGAGAAGGCTTGCCGAG___ATGTGGACGAGTGTCTGCAGGGCCGCTGTGAGCAGGTCTGCGTGAACTCCCCAGGGAGCTACACCTGCCACTGTGACGGGCGTGGGGGCCTCAAGCTGTCCCAGGACATGGACACCTGTGAG___GACATCTTGCCGTGCGTGCCCTTCAGCGTGGCCAAGAGTGTGAAGTCCTTGTACCTGGGCCGGATGTTCAGTGGGACCCCCGTGATCCGACTGCGCTTCAAGAGGCTGCAGCCCACCAG___GCTGGTAGCTGAGTTTGACTTCCGGACCTTTGACCCCGAGGGCATCCTCCTCTTTGCCGGAGGCCACCAGGACAGCACCTGGATCGTGCTGGCCCTGAGAGCCGGCCGGCTGGAGCTGCAGCTGCGCTACAACGGTGTCGGCCGTGTCACCAGCAGCGGCCCGGTCATCAACCATGGCATGTGGCAGACA___ATCTCTGTTGAGGAGCTGGCGCGGAATCTGGTCATCAAGGTCAACAGGGATGCTGTCATGAAAATCGCGGTGGCCGGGGACTTGTTCCAACCGGAGCGAGGACTGTATCATCTGAACCTGACCGTGGGAGGTATTCCCTTCCATGAGAAGGACCTCGTGCAGCCT___ATAAACCCTCGTCTGGATGGCTGCATGAGGAGCTGGAACTGGCTGAACGGAGAAGACACCACCATCCAGGAAACGGTGAAAGTGAACACGAGGATGCAGTGCTTCTCGGTGACGGAGAGAGGCTCTTTCTACCCCGGGAGCGGCTTCGCCTTCTACAGCCTGGACTACA___TGCGGACCCCTCTGGACGTCGGGACTGAATCAACCTGGGAAGTAGAAGTCGTGGCTCACATCCGCCCAGCCGCAGACACAGGCGTGCTGTTTGCGCTCTGGGCCCCCGACCTCCGTGCCGTGCCTCTCTCTGTGGCACTGGTAGACTATCACTCCACGAAGAAACTCAAGAAGCAG___CTGGTGGTCCTGGCCGTGGAGCATACGGCCTTGGCCCTAATGGAGATCAAGGTCTGCGACGGCCAAGAGCACGTGGTCACCGTCTCGCTGAGGGACGGTGAGGCCACCCTGGAGGTGGACGGCACCAGGGGCCAGAGCGAGGTGAGCGCCGCGCAGCTGCAGGAGAGGCTGGCCGTGCTCGAGAGGCACCTGCGGAGCCCCGTGCTCACCTTTGCTGGCGGCCTGCCAG___ATGTGCCGGTGACTTCAGCGCCAGTCACCGCGTTCTACCGCGGCTGCATGACACTGGAGGTCAACCGGAGGCTGCTGGACCTGGACGAGGCGGCGTACAAGCACAGCGACATCACGGCCCACTCCTGCCCCCCCGTGGAGCCCGCCGCAGCCTAGGCCCCCACGGGACGCGGCAGGCTTCTCAGTCTCTGTCCGAGACAGCCGGGAGGAGCCTGGGGGCTCCTCACCACGTGGGGCCATGCTGAGAGCTGGGCTTTCCTCTGTGACCATCCCGGCCTGTAACATATCTGTAAATAGTGAGATGGACTTGGGGCCTCTGACGCCGCGCACTCAGCCGTGGGCCCGGGCGCGGGGAGGCCGGCGCAGCGCAGAGCGGGCTCGAAGAAAATAATTCTCTATTATTTTTATTACCAAGCGCTTCTTTCTGACTCTAAAATATGGAAAATAAAATATTTACAGAAAGCTTTGTAA)$ MEEEAETEEQQRFSYQQ|DYFYPRYLDCINKYGSPYTKNSGFATCVQNLPDQCTPNPCDRKGTQACQDLMGNFFCLCKAGWGGRLCDKDVNECSQENGGCLQICHNKPGSFHCSCHSGFELSSDGRTCQDIDECADSEACGEARCKNLPGSYSCLCDEGFAYSSQEKACRDVDECLQGRCEQVCVNSPGSYTCHCDGRGGLKLSQDMDTCEDILPCVPFSVAKSVKSLYLGRMFSGTPVIRLRFKRLQPTRLVAEFDFRTFDPEGILLFAGGHQDSTWIVLALRAGRLELQLRYNGVGRVTSSGPVINHGMWQTISVEELARNLVIKVNRDAVMKIAVAGDLFQPERGLYHLNLTVGGIPFHEKDLVQPINPRLDGCMRSWNWLNGEDTTIQETVKVNTRMQCFSVTERGSFYPGSGFAFYSLDYMRTPLDVGTESTWEVEVVAHIRPAADTGVLFALWAPDLRAVPLSVALVDYHSTKKLKKQLVVLAVEHTALALMEIKVCDGQEHVVTVSLRDGEATLEVDGTRGQSEVSAAQLQERLAVLERHLRSPVLTFAGGLPDVPVTSAPVTAFYRGCMTLEVNRRLLDLDEAAYKHSDITAHSCPPVEPAAA* 05BR043 ENSG00000175279.22 ENSG00000183087.15 +/+ -/- chr1:10430568 chr13:113848050 CDS/splice-site CDS/splice-site translocation 0 4 0 43 79 medium in-frame . |Calcium-binding_EGF_domain(100%),Coagulation_Factor_Xa_inhibitory_site(100%),Laminin_G_domain(100%),Vitamin_K-dependent_carboxylation/gamma-carboxyglutamic_(GLA)_domain(100%) . . ENSG00000175279.22 ENSG00000183087.15 ENST00000309048.8 ENST00000327773.7 downstream downstream duplicates(2) ^(GCGCCGCGGCGGGAAAATCCGACCTGGCCGCGCACCACCGCCCCTT)CTCGGCCCTCCTGCGTTTGCCCAGGGTCGGCCCGCAGTGATGGAGGAGGAGGCGGAGACCGAGGAGCAGCAGCGATTCTCTTACCAACAG|GATTATTTTTACCCAAGATACTTAG___ACTGCATCAACAAGTATGGGTCTCCGTACACCAAAAACTCAGGCTTCGCCACCTGCGTGCAAA___ACCTGCCTGACCAGTGCACGCCCAACCCCTGCGATAGGAAGGGGACCCAAGCCTGCCAGGACCTCATGGGCAACTTCTTCTGCCTGTGTAAAGCTGGCTGGGGGGGCCGGCTCTGCGACAAAG___ATGTCAACGAATGCAGCCAGGAGAACGGGGGCTGCCTCCAGATCTGCCACAACAAGCC(GGGTAGCTTCCACTGTTCCTGCCACAGCGGCTTCGAGCTCTCCTCTGATGGCAGGACCTGCCAAG___ACATAGACGAGTGCGCAGACTCGGAGGCCTGCGGGGAGGCGCGCTGCAAGAACCTGCCCGGCTCCTACTCCTGCCTCTGTGACGAGGGCTTTGCGTACAGCTCCCAGGAGAAGGCTTGCCGAG___ATGTGGACGAGTGTCTGCAGGGCCGCTGTGAGCAGGTCTGCGTGAACTCCCCAGGGAGCTACACCTGCCACTGTGACGGGCGTGGGGGCCTCAAGCTGTCCCAGGACATGGACACCTGTGAG___GACATCTTGCCGTGCGTGCCCTTCAGCGTGGCCAAGAGTGTGAAGTCCTTGTACCTGGGCCGGATGTTCAGTGGGACCCCCGTGATCCGACTGCGCTTCAAGAGGCTGCAGCCCACCAG___GCTGGTAGCTGAGTTTGACTTCCGGACCTTTGACCCCGAGGGCATCCTCCTCTTTGCCGGAGGCCACCAGGACAGCACCTGGATCGTGCTGGCCCTGAGAGCCGGCCGGCTGGAGCTGCAGCTGCGCTACAACGGTGTCGGCCGTGTCACCAGCAGCGGCCCGGTCATCAACCATGGCATGTGGCAGACA___ATCTCTGTTGAGGAGCTGGCGCGGAATCTGGTCATCAAGGTCAACAGGGATGCTGTCATGAAAATCGCGGTGGCCGGGGACTTGTTCCAACCGGAGCGAGGACTGTATCATCTGAACCTGACCGTGGGAGGTATTCCCTTCCATGAGAAGGACCTCGTGCAGCCT___ATAAACCCTCGTCTGGATGGCTGCATGAGGAGCTGGAACTGGCTGAACGGAGAAGACACCACCATCCAGGAAACGGTGAAAGTGAACACGAGGATGCAGTGCTTCTCGGTGACGGAGAGAGGCTCTTTCTACCCCGGGAGCGGCTTCGCCTTCTACAGCCTGGACTACA___TGCGGACCCCTCTGGACGTCGGGACTGAATCAACCTGGGAAGTAGAAGTCGTGGCTCACATCCGCCCAGCCGCAGACACAGGCGTGCTGTTTGCGCTCTGGGCCCCCGACCTCCGTGCCGTGCCTCTCTCTGTGGCACTGGTAGACTATCACTCCACGAAGAAACTCAAGAAGCAG___CTGGTGGTCCTGGCCGTGGAGCATACGGCCTTGGCCCTAATGGAGATCAAGGTCTGCGACGGCCAAGAGCACGTGGTCACCGTCTCGCTGAGGGACGGTGAGGCCACCCTGGAGGTGGACGGCACCAGGGGCCAGAGCGAGGTGAGCGCCGCGCAGCTGCAGGAGAGGCTGGCCGTGCTCGAGAGGCACCTGCGGAGCCCCGTGCTCACCTTTGCTGGCGGCCTGCCAG___ATGTGCCGGTGACTTCAGCGCCAGTCACCGCGTTCTACCGCGGCTGCATGACACTGGAGGTCAACCGGAGGCTGCTGGACCTGGACGAGGCGGCGTACAAGCACAGCGACATCACGGCCCACTCCTGCCCCCCCGTGGAGCCCGCCGCAGCCTAGGCCCCCACGGGACGCGGCAGGCTTCTCAGTCTCTGTCCGAGACAGCCGGGAGGAGCCTGGGGGCTCCTCACCACGTGGGGCCATGCTGAGAGCTGGGCTTTCCTCTGTGACCATCCCGGCCTGTAACATATCTGTAAATAGTGAGATGGACTTGGGGCCTCTGACGCCGCGCACTCAGCCGTGGGCCCGGGCGCGGGGAGGCCGGCGCAGCGCAGAGCGGGCTCGAAGAAAATAATTCTCTATTATTTTTATTACCAAGCGCTTCTTTCTGACTCTAAAATATGGAAAATAAAATATTTACAGAAAGCTTTGTAA)$ MEEEAETEEQQRFSYQQ|DYFYPRYLDCINKYGSPYTKNSGFATCVQNLPDQCTPNPCDRKGTQACQDLMGNFFCLCKAGWGGRLCDKDVNECSQENGGCLQICHNKPGSFHCSCHSGFELSSDGRTCQDIDECADSEACGEARCKNLPGSYSCLCDEGFAYSSQEKACRDVDECLQGRCEQVCVNSPGSYTCHCDGRGGLKLSQDMDTCEDILPCVPFSVAKSVKSLYLGRMFSGTPVIRLRFKRLQPTRLVAEFDFRTFDPEGILLFAGGHQDSTWIVLALRAGRLELQLRYNGVGRVTSSGPVINHGMWQTISVEELARNLVIKVNRDAVMKIAVAGDLFQPERGLYHLNLTVGGIPFHEKDLVQPINPRLDGCMRSWNWLNGEDTTIQETVKVNTRMQCFSVTERGSFYPGSGFAFYSLDYMRTPLDVGTESTWEVEVVAHIRPAADTGVLFALWAPDLRAVPLSVALVDYHSTKKLKKQLVVLAVEHTALALMEIKVCDGQEHVVTVSLRDGEATLEVDGTRGQSEVSAAQLQERLAVLERHLRSPVLTFAGGLPDVPVTSAPVTAFYRGCMTLEVNRRLLDLDEAAYKHSDITAHSCPPVEPAAA* 05BR043 ENSG00000207304.1 ENSG00000143384.13(20201),ENSG00000253047.1(600) -/- ./- chr11:93732244 chr1:150599939 exon intergenic translocation 3 1 0 505 100 medium . . . . . ENSG00000207304.1 . ENST00000384574.1 . upstream downstream . ^(TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCATCGTTGGTTTTCTTGGCTTTGTGCTTGTTAAACCTGGTATTTCTACTGATA)CAGTATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCACCTACAGTAAAAAG|GACCCTAAAGTAAATTGGTTGAAGAAATTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCAtATTAAAAcGAGAtGACAG-AAGCCAAAGTAATTATGGGCTGACAGGAC . 05BR043 ENSG00000136147.18 ENSG00000102543.14 +/+ +/+ chr13:49496095 chr13:49255839 CDS/splice-site CDS/splice-site duplication 4 0 0 96 45 medium out-of-frame . |Cytidine_and_deoxycytidylate_deaminase_zinc-binding_region(100%) . . ENSG00000136147.18 ENSG00000102543.14 ENST00000378319.8 ENST00000251108.10 downstream upstream duplicates(1) ^(ACTTCCGGGATCT)CGCTATCCGGCCGCCACCCGCAGCTGCAGCACAGTCATGGCCCAGGCGTCGCCGCCCCGGCCCGAGAGGGTGCTCGGCGCCAGCAGCCCGGAGGCCCGGCCCGCGCAGGAGGCGCTCCTCCTTCCCACCG|AAAAATGAAGAGGGAAAGCATGGACCCTTAGGAGATAATGAAGAGAGGACCAGAGTATCTACTGACAAAAGACAG(___GTAAAGAGAACTGGTCTTGTGGTGGTGAAAAACATGAAAATTGTTGGTCTCCACTGTTCTAGTGAAGATTTACATGCCGGGCAGATTGCTCTTATTAAACATGGGTCAAGGCTGAAAAACTGTGATCTTTATTTTTCCAGAAAACCATGTTCTGCTTGTTTGAAAATGATTGTAAATG___CTGGAGTTAACCGAATTTCATACTGGCCTGCTGATCCAGAAATAAGTTTGCTTACGGAGGCTTCTAGTTCTGAAGATGCAAAGTTAGATGCCAAAGCAGTGGAAAGATTGAAGTCAAACAGTCGGGCCCATGTGTGTGTCTTACTTCAACCTTTGGTGTGTTATATGGTGCAGTTTGTAGAGGAGACCTCTTACAAATGTGACTTTATTCAAAAAATTACAAAAACATTGCCGGATGCTAACACTGACTTTTATTATGAATGTAAACAAGAAAGAATAAAAGAATATGAAATGTTATTTTTGGTTTCAAATGAAGAAATGCATAAGCAAATACTGATGACTATAGGTTTGGAGAACCTGTGTGAAAATCCATACTTTAGCAATCTAAGGCAAAACATGAAAGACCTTATCCTACTTTTGGCCACAGTAGCTTCCAGTGTGCCGAACTTTAAACACTTCGGATTTTACCGTAGCAATCCAGAACAGATTAATGAAATTCACAATCAAAGTTTGCCACAGGAAATTGCAAGGCACTGCATGGTTCAGGCCAGGTTATTGGCATATCGAACTG___AGGATCATAAAACAGGAGTTGGGGCAGTCATTTGGGCAGAAGGGAAATCT___AGAAGTTGTGATGGAACAGGTGCCATGTACTTTGTAGGATGTGGTTACAATGCTTTTCCTGTTGGATCTGAGTATGCTGACTTCCCACACATGGATGACAAGCAGAAAGACAGAGAAATAAGGAAATTCAGATACATCATACATGCGGAACAGAATGCCTTGACATTTAG___GTGTCAAGAAATAAAACCAGAAGAAAGAAGCATGATTTTTGTGACAAAGTGCCCATGTGATGAGTGTGTACCTTTAATTAAAGGTGCAGGCATAAAACAAATCTATGCAGGAGATGTAGATGTTGGAAAAAAGAAGGCAGACATCTCTTACATGAGGTTCGGGGAGCTTGAAGGTGTTAGCAAATTTACG___TGGCAGCTGAATCCATCAGGAGCTTATGGTCTTGAACAAAATGAGCCTGAAAGGAGAGAAA___ATGGTGTGTTGAGACCTGTCCCACAGAAGGAAGAGCAGCACCAGGACAAGAAGCTGCGCCTCGGAATCCACTAAGAAGGCCTGTCTACACTGCAGGGGAACCTCAAGAACTTTTCATTGCACTTCTAAAATTCAGCCTTGTTCATTCAGAAAATAAGGATGGATTTTGTGAATAATTGAAAAGATTTTTTAAGGAAGCTAATTTATTTCTAGGATACAAATGGTGTTAATAAGAATATTTGTCTTTTAGATTTATGTGTGGGTTTTCCATAATGTAGTAGTGTGTTATTTTATTACACGAAATGAGGGAGCAATAACTTCAACCAATGTAATCACCAACAGGGACTGATTTCTATTTATCTTGACTTTATATTAGCCAATTTGAAAGGGTCTGCTTCACAAGAGGTCATGCCTCTGCAGGGAATCACACACCTTTTGAGAAATATTAATTCTTTTGAATTACAAGAGTGACAGTTAGTAAACTGCTCCAGGGAAATAAGTGTCATCTTTTAAGAGTCAGTGTATAGCAAACCAAAAGATCACATTTATACCCAAAGCTTTCTAGTAATCAGAATTTACTTAATTAGAATTGACTCATAAAAATAAAGTTAGTGGACTTTGTCTCCATTTTTAAAGTATATTTTGTAAATGTTAATTCTGTGGTCCTGTTTATCACAGACTTTGGGTAGCAATAGGAAGAGAGTGTTATTCTGAGACAGTGTCGCTGCTTGATATCACTGACTCTTGAAATCACTAACAGTGAACCTCAAATTTGGTTATGATGTTAACAGAGAAGAAATATTTGAGTCTGGAATATTGAAACTAGCTTTCCTAGAATTCCATTAATAAATGCTGCTCCCCCATATAGTCTTCCCTTCTGTATAATTAACATAGGTTGTCTCATGGCTTTGATCTTCAAAAGGAAGAGCCTTTTAAAAACATTTGCCAACCTCAAGAATAAATACTGAAAGTCTTGAAAGTATGGTCATTTCAGCTATTCCAGATTGCTGTCTGTGATTTCTCACATTTTTATTTGCTGAGAAACATTCAGAAAATTATTCCAAAAATGAAGGTACATTTTCTGTTCTCTCCTAGGTTAGAGAGGGGTGGCCTGGGGTGCTTCATGAGAAATGTCTTCCTGGATCTGCGGTGGTCAGGTTTGCCTCTGCTTTTGTTCCCTGCCTTTCCGCCACATCACACGGCCTCACTGGGCTTCCTACCAGTTTCTCAGAATTACACGCACGACCATCCAAACATTGGCTCCATGCCAGGGCTGTGACTGCAGCCTGTGTAGGACCATGGGGAGTTCAGAGTCATCATACAAGGCAGCCAAGAACTGCCATAAACACTACACAGATGGAGGGCATGGGATAGGACAGGAGAGGAGGTGATGTACACTTAGAGGTAACTAAGGCTAGTTTGAAAACCGTGAATTAAGATATTCTTATCAGTATAAAAACACTGAGATTGCTTACCTCCCAAATTGCTTTATTGTATTAACTCTCATGCTTCAGCTCTTGGATTTGTTGTTTCTAACTAACATGTCATGTACACCAAACATTTTATAAATCAATCAGTAAATATTTTGTAAGACCCAAAATCCTGGCATATTGCCAGGTCTGTGGATTTGCCTGTTGGGTGTTGGGATGGGATATCAGAGGAAGAAGCATACAAGTGGGAAAAACTGTGATTAGAAAGGGAAAAATAGGCATTTCCACAGTACTATTAAGAGAGGCATGATAATGCCATTTTTTTTCTTCTGTACAACTGGTCAGATTTCAATAAATAATCATTGATGGTTTA)$ MAQASPPRPERVLGASSPEARPAQEALLLPT|ek* 05BR043 ENSG00000215421.9 ENSG00000133313.15 +/+ +/+ chr18:74781502 chr18:74505849 CDS/splice-site CDS/splice-site duplication 2 2 0 18 464 medium out-of-frame . |Peptidase_dimerisation_domain(100%),Peptidase_family_M20/M25/M40(100%) . . ENSG00000215421.9 ENSG00000133313.15 ENST00000299687.9 ENST00000324262.9 downstream upstream . ^(ATGATGGATAGTGAGAATAAACCCGAAAATGATGAGGATGAAAAGATAAACAAAGAAGCACAAGACTTGACAAAGCTTTCATCCCATAATGAAGACGGTGGGCCTGTATCTGATGTGATAGCAAGTTTCCCTGAGAATTCTATGGGCAAAAGAGGTTTTTCAGAATCATCGAACTCTGATAGTGTTGTTATAGGAGAAGACAGAAATAAACATGCTTCCAAACGCAGGAAATTAGATGAGGCAGAGCCCCTTAAATCTGGAAAGCAAGGTATTTGTAGATTAGAAACTTCTGAGAGCTCAGTCACAGAAGGGGGTATTGCATTAGATGAAACAGGGAAGGAGACCTTTCTGAGTGACTGCACAGTTGGAGGCACATGTCTCCCAAATGCCCTCTCCCCTTCTTGCAATTTTAGCACTATTGATGTTGTTTCTCTGAAAACAGACACTGAAAAAACATCTGCTCAGGAAATGGTTTCCCTTGATCTGGAAAGAGAATCTCCTTTCCCCCCGAAAGAAATTAGTGTTAGTTGTACCATTGGGAATGTAGATACAGTTCTCAAATGCAGCATCTGTGGGCATTTGTTTTCTTCTTGCTCTGACTTGGAAAAACATGCTGAGTCTCACATGCAGCAGCCTAAGGAACATACCTGTTGTCACTGCAGCCACAAAGCAGAGAGCAGCTCAGCACTACATATGCATATCAAACAAGCACATGGGCCACAGAAGGTCTTTTCCTGTGATCTTTGTGGTTTTCAGTGTTCAGAAGAAAACTTGTTGAATGCACATTATCTTGGCAAAACACATCTCCGTCGTCAGAATCTGGCTGCTCGTGGAGGATTTGTACAGATCTTAACAAAACAACCTTTTCCTAAAAAATCACGTACAATGGCAACAAAAAATGTTCACTCAAAACCAAGAACTTCTAAATCAATAGCAAAGAATAGTGATTCAAAAGGATTACGAAATGTGGGAAGCACGTTTAAAGATTTCAGAGGAAGTATTTCTAAACAAAGTGGTAGTAGCAGTGAGCTTCTTGTTGAAATGATGCCTTCCAGAAATACTTTGTCACAGGAAGTAGAGATTGTTGAAGAACATGTTACTTCCCTTGGTCTAGCTCAGAATCCTGAAAACCAGAGTAGAAAGCTAGACACCTTAGTAACCTCAGAGGGTCTCTTAGAGAAATTGGAATCTACAAAAAATACCCTTCAGGCAGCACACGGTAACAGTGTAACCTCGAGGCCAAGACCTGAGCGAAATATTCTCGTGTTGGGTAATAGCTTTCGTCGACGAAGCAGCACTTTCACCTTGAAGGGCCAGGCAAAGAAAAGGTTTAATCTTTTAGGAATTAAAAGAGGTACAAGTGAAACTCAGAGGATGTATATGAAACACTTGAGAACACAGATGAAAACACACGATGCAGAATCAGTGCTGAAACACCTGGAAGCGTGCAGCAGTGTGCAGAGAGTGTGTGTGACTACCTCAGAAACCCAGGAGGCAGAGCAGGGCCAGGGGAGTGCCCGTCCTCCGGACTCCGGGCTGCATTCCCTGACAGTGAAGCCAGCTTCTGGCTCTCAGACGTTGTGTGCTTGTACAGACTGTGGGCAAGTAGCTACAAATAGGACAGATTTGGAAATCCATGTGAAAAGGTGCCATGCCAGAGAGATGAAATTTTACTGCCGTACTTGTGACTTCTCTAGTATGTCAAGAAGGGACTTAGATGAACATTTGCACAGTAACCAGCATCAGCAAACTGCTTCTGTCCTGAGTTGTCAGTGTTGTTCATTTATATCCTTGGATGAAATAAATCTTAGAGACCACATGAAGGAAAAGCACAATATGCATTTTCTTTGCACCCCTTGTAATCTGTTCTTTTTGTCTGAAAAAGATGTGGAAGAACACAAAGCCACCGAGAAGCATATTAATTCATTGGTTCAACCAAAGACTTTGCAATCATCTAACAGTGATTTGGTTTTACAGACTTTACCTTTGAGTACTTTAGAATCAGAAAACGCAAAAGAGTCTATGGATGACTCAGGAAAAGCATCTCAGGAAGAACCTCTGAAGTCCAGGGTAAGCCATGGTAATGAAGTGAGGCATTCCAGTAAGCCTCAGTTTCAGTGTAAGAAGTGTTTTTATAAAACAAGATCTTCTACTGTTCTCACGAGACATATAAAGCTTCGGCATGGTCAAGACTATCATTTTCTTTGTAAAGCTTGTAATCTTTATTCATTGAGCAAAGAAGGAATGGAGAAACACATTAAAAGAAGCAAGCATCTTGAAAATGCTAAGAAAAATAATATTGGCTTAAGCTTTGAAGAATGTATTGAAAGGGTATGTATAGGTGCAAATGATAAAAAAGAAGAGTTTGATGTTTCCGGAAATGGAAGGATTGAAGGCCATATAGGTGTGCAATTACAAGAGCATTCCTATCTTGAGAAGGGCATGCTGGCGTCTGAGGAACTGTCACAGTCTGGTGGTAGCACCAAAGATGATGAATTAGCTTCAACCACTACTCCAAAGAGAGGGAGACCTAAAGGTAACATCTCACGGACGTGTTCACACTGTGGCCTTTTGGCCTCTAGTATTACAAACTTGACTGTTCACATTAGACGAAAACACAGTCACCAGTATAGTTATTTATGCAAAGTGTGTAAGTATTACACTGTAACTAAGGGAGATATGGAACGTCATTGTGCCACCAAGAAACATAAAGGACGGGTAGAAATAGAAGCAAGTGGAAAACACAGTTCAGATATCATTGTTGGCCCTGAAGGGGGTAGCCTTGAAGCTGGTAAAAAGAATGCTGGCTCAGCAGTGACCATGTCAGATGAACATGCTAACAAACCAGCTGAGTCACCCACCTCCGTTTTAGAGAAGCCAGATCGTGGAAACTCAATTGAAGCTGAAGTTGAAAATGTATTTCATTCTCTAGATGGAGAAGTTAACAGCCATCTTCTTGATAAAAAGGAGCAAATATCTTCAGAGCCAGAGGACTTCGCCCAGCCGGGGGATGTGTACTCCCAGAGAGATGTTACAGGCACAGGTGAGAATAAGTGTTTGCACTGTGAGTTTAGTGCTCACTCCTCTGCTTCTCTAGAGCTGCATGTAAAACGGAAACATACAAAAGAGTTTGAGTTTTATTGCATGGCATGCGATTACTACGCGGTGACTCGTCGCGAGATGACCAGGCATGCAGCAACAGAGAAGCACAAAATGAAAAGGCAGTCTTATCTCAACTCTGCTAATGTAGAAGCTGGTTCTGCAGACATGTCCAAAAACATCATTATGCCTGAAGAAGAGCATCAACAAAATTCTGAGGAATTTCAAATAATTTCAGGTCAACCATCTGATACTCTTAAATCTAGAAATGCTGCAGATTGCTCTATTTTAAATGAGAATACTAATTTAGATATGTCTAAAGTGCTCTGCGCTGCTGACTCTGTAGAAGTTGAGACTGAAGAAGAATCTAATTTCAATGAAGACCATTCCTTTTGTGAGACTTTCCAACAGGCTCCTGTCAAGGATAAAGTTAGGAAACCTGAGGAGATGATGTCACTTACTATGTCCTCAAACTATGGCTCCCCAAGCAGATTTCAAAATGAAAATTCAGGAAGCTCTGCCTTAAATTGTGAGACAGCAAAGAAAAACCATGAGATATCGAATGATGCAGGTGAGCTGCGTGTCCATTGTGAGGGTGAAGGAGGAAACGCAGGAGACGGTGGAGGTGTTGTCCCCCACAGACACCTGTGCCCTGTGACGCTCGATGGGGAGCGCTCGGCTGAAAGCCCTGTGCTCGTTGTGACAAGAATAACCAGAGAACAGGGAAATCTGGAGAGCGGGGGTCAGAACAGAGTTGCACGTGGGCATGGTTTGGAAGACTTGAAAGGTGTCCAAGAAGATCCCGTTCTGGGGAATAAGGAAATTCTGATGAATTCACAACATGAAACAGAATTTATTTTGGAGGAGGATGGCCCAGCTTCTGATAGCACAGTTGAAAGTAGTGATGTCTATGAAACTATAATTAGTATTGATGATAAAGGGCAGGCCATGTACAGTTTTGGTCGATTTGACTCCTCCATAATAAGAATAAAGAACCCTGAAGATGGTGAGTTGATAGACCAGTCTGAAGAGGGCTTGATAGCAACGGGAGTGAGAATTAGTGAGCTGCCCTTGAAAGACTGTGCTCAAGGTGTGAAAAAGAAGAAATCTGAGGGCAGTTCCATTGGTGAGTCTACACGAATTCGCTGTGATGATTGTGGCTTCTTAGCAGATGGACTGAGTGGACTGAATGTTCACATAGCCATGAAGCATCCTACAAAAGAGAAGCACTTCCATTGTTTACTCTGTGGAAAGTCGTTCTATACCGAAAGCAACCTTCACCAGCATCTGGCTAGTGCCGGCCACATGAGAAATGAGCAGGCCAGTGTGGAGGAGCTTCCGGAGGGAGGGGCCACCTTTAAATGTGTCAAGTGCACAGAGCCCTTTGATTCTGAACAGAATTTATTTTTACATATTAAAGGACAGCATGAGGAATTGCTGCGGGAGGTGAATAAGTATATAGTGGAAGACACTGAGCAAATCAACCGCGAGAGGGAGGAAAACCAGGGAAACGTCTGCAAGTATTGTGGGAAGATGTGTCGAAGCAGCAACTCGATGGCCTTCCTGGCACACATTCGCACTCACACAG___GATCAAAACCATTCAAGTGCAAGATATGCCATTTTGCAACAGCTCAGCTTGGAGATGCCAGAAACCATGTGAAAAGGCACCTTGGGATGAGGGAATACAAGTGTCATGTCTGTGG___)GGTTGCTTTTGTAATGAAGAAGCACTTAAATACTCATCTACTAGGCAAGCATGGAGTTGGCACCCCAAAAGAAAG|CTCCCTGATGGCTCGGAGATCCCGCTCCCTCCTATTCTGCTCGGCAGGCTGGGCTCCGACCCACAGAAGAAGACCGTGTGCATTTACGGGCACCTGGATGTGCAGCCTGCAGCCCTGGAGGACGGCTGGGACAGCGAGCCCTTCACCCTGGTGGAGCGAGACG___GCAAGCTGTATGGGAGAGGTTCGACTGATGATAAGGGCC(CGGTGGCCGGCTGGATAAACGCCCTGGAAGCGTATCAGAAAACAGGCCAG___GAGATTCCTGTCAACGTCCGATTCTGCCTCGAAGGCATGGAGGAGTCAGGCTCTGAGGGCCTAGACGAGCTGATTTTTGCCCGGAAAGACACATTCTTTAAGGATGTGGACTATGTCTGCATTTCTGACAATTACTGGCTGGGAAAGAAGAAGCCCTGCATCACCTACGGCCTCAGGGGCATTTGCTACTTTTTCATCGAG___GTGGAGTGCAGCAACAAAGACCTCCATTCTGGGGTGTACGGGGGCTCGGTGCATGAGGCCATGACTGATCTCATTTTGCTGATGG___GCTCTTTGGTGGACAAGAGGGGGAACATCCTGATCCCCGGCATTAACGAGGCCGTGGCCGCCGTCACGGAAGAGGAGCACAAGCTGTACGACGACATCGACTTTGACATAGAGGAGTTTGCCAAGGATGTGGGGGCGCAGATCCTCCTGCACAGCCACAAG___AAAGACATCCTCATGCACCGATGGCGGTACCCGTCTCTGTCCCTCCATGGCATCGAAGGCGCCTTCTCTGGGTCTGGGGCCAAGACCGTGATTCCCAGGAAGGTGGTTGGCAAGTTCTCCATCAGGCTCGTGCCGAACATGACTCCTGAAGTCGTCGGCGAGCAG___GTCACAAGCTACCTAACTAAGAAGTTTGCTGAACTACGCAGCCCCAATGAGTTCAAGGTGTACATGGGCCACGGTGGGAAGCCCTGGGTCTCCGACTTCAGTCACCCTCATTACCTGGCTGGGAGAAGAGCCATGAAGACAG___TTTTTGGTGTTGAGCCAGACTTGACCAGGGAAGGCGGCAGTATTCCCGTGACCTTGACCTTTCAGGAGGCCACGGGCAAGAACGTCATGCTGCTGCCTGTGGGGTCAGCGGATGACGGAGCCCACTCCCAGAATGAAAAGCTCAACAG___GTATAACTACATAGAGGGAACCAAGATGCTGGCCGCGTACCTGTATGAGGTCTCCCAGCTGAAGGACTAGGCCAAGCCCTCTGTGTGCCATCTCCAATGAGAAGGAATCCTGCCCTCACCTCACCCTTTTCCAACTTGCCCAGGGAAGTGGAGGTTCCCTCTTTCCTTTCCCTCTTGTCAGGTCATCCATGACTTTAGAGAACAGACACAAGTGTATCCAGCTGTCCACGGGTGGAGCTACCCGTTGGGCTTATGAGTGACCTGGAGTGACAGCTGAGTCACCCTGGGTAAGTTCTCAGAGTGGTCAGGATGGCTTGACCTGCAGAAGATACCCAAGGTCCAAAAGCACAAGGTCTGCGGAAAGTTCTGGTTGTCGGCCGGGCACCACGGCTCACACCTATAATCGAGCACTTTGGGAGGCCAAGACAGGAGGATCACTTGAGGCCAGGAGTCTGAGACAAGCCTAGGCAACAAAACAAGACTCTGTCTCTACAAAAAGTTTAAGAAATGAGCCAGACATGGTGGTGTATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGGCAGGAGGATCGCTTGAGACCAAGAGTTTGAGCCTGCGGTGAGCTGTGAATGCACCACGGCACTCAAGCCTGGGCAATGTAGCAAGATCCTGTCTCTACAAGAAATTTTTTAAAAATGAGCCAAGTGTGGTGGTGCATGCCTGTAGTTCCAGCTACTCAGGACACTGACGTAGGAGGGTTGCTTGAGACTGAGAGTTGGAGGCTGCGATGAGCCATGAATGCCCCACTGCACTCCAGCCTGGGCGACAGAACGAGACCCCATCTCAAAAAAAATAAGTTCTGGTTGTCATTGAATTGGGATAAACAGAGAGCTTGATGCTTTCTGCCTTCTGTCTCAGGTGATGCATTGCACATTTGGGATATTTGGAAAGGAAATGAGGAAAGAAATTAGGGCCTCCTCTGATCTCTCGCTATCTGCGGGTCCTGTCCTTTTCTCAAGACCTTCACCATTACTGGCATTTTCCTGTCTTCTCTTTAGTATGATCCCTCAAAACCTCACTAACTGGAAGGATGATTTTGTCTCAGTTTGTACTCCTAAATAAAAAGTAAACATGACACCTCTAAAAGAATCGCTCCATCTCAGTTGCTCGTCGCGTGCACACCATGCTTATTGAGTGGTGTCTGGTTGGTGGTGTCAGCTCAGGGCAGGGGACAGCAGGCAGGACCCGGAAAACAGAACCCAGGTCTTCCCAGGCGAGCACTCCCTCCCTCGTCCACACAAGTGGAGGCTCACTCGTGGCCCCCTGCATGTTCCGAGAAGTGTCCCTGTCTCTGCTCCTTAACGGCTGTGGGGCCACAGGAAGTCCAGCTGGCTTAAACAAAGAATTGATTGGCCCACTTGACATAAAAGAACAGAGTAAACTCAATGAAAGGAAAAGGCTCCTTGAAGTGGTTGGTTCCAGGGCTGGGCAGGGAAGATGCAAGATGAGTCTGGACCCTCTCACATCGGAACGTAAGGATGCGCTCCTGAGGGCGTGGGGCTGCGTCCAAGGACACAGGAGCCAGCCTGGAAGAGTTTGCAGGGGCCCAGGGGAGCAATTGGAGTGAGAAAATAGCAGTAGTGTTGGATTTTTACCATGGAATAAACAACAATCCATGAGTCCATACTAATATAAATAAAGTGACAAAGTGGGTGAGAAGGACCAGTGCCCCTGGATGAAGAATCTCTGCTCATGTGGGAGGAAGGTGGGAGATCAAAGCTGGAGCACTTGCTGCTGCAGGTGAGACCCCTGACACACTCTCAAATTGGTAGGCAAAGGTTTAAAGAACGGGATATTTGCTTAGCTTAAAAGCACCTCCCAAGGGGAAAACAGTAACTTCACAGTGGAGAGACCTGGCAGGCACCACCCTCAGATCAAAATGAACCTCAGCAGTAATGACACGTCCACATCAGCACCCCCAACACCACTCCCTGAGGAGGACATGCCAGTTCTGGGAACATCACACTCATCGTGACAAAACATCAGACAAACCCAAACGGATGAAATGTGAGGAAAATCTGTAGTTGGTTTTACGTGGATGTTAATCTCTTAGTTTTGATCATTGTGCTGTAGCTGCATAAGAGGTTAGCTGGGTGAAGTGTATCTGGGGACCCTCTATGGCTTTTGCATCTTTTCTCTAAGTCTCCTGTCATTTCAAAGTAAAAACAAAAAAAGAAGACAAGGGTAGCGGCTTCAGGTACAGCTGGACCCAGCACTCAGTGCTATCTGGGCTTGTGGCTCCAACTCAACTCCTCCATCAGAACTGTGAGAAATGCATTCTTTCAGCTTCTAATCCTGCAAAAAGAACTGCATGGTCTTCCCCCAGAAATCCTAAGAGTAGCTGCTGGTGTCTCATGCATGCGAGCTGCATATGGGCCCCCGTTAGTCAGGAACCCATGCTGAGAGGTGCTATGCTTTGAATGTTTGGCTCCTCCCAAACTCGTGTTGAAACTTAATAGCCATTGTAACAGTATTAAGAGGCAGGGCCTTCAAGAGCTGGTCAGGCCATGAGGGCCCTGTCCTCCTGACTGAGTGAATGCTGTTATTGTAGGAGTGGGCTTGTTTGGCCTCCTCTTGCTCTCTCTACCCCTCTCTGAGCCCTTGTGTTGTGGGATGACACAGCCAGAAGGCCCTTGCCAGGTTCCGGTCCCTCCACCTTGGACCTCCCAGCCTCCCGAACGTTGAGCCAATACATCTCTGCTCATTGTAAATTACCTAGTCTTGGGCATTGTGTTACAGCAGCAAAAAGCAGCCTACGGCAGTCACCGTGCTAACACCTGCAGCAGCCTGCGGCGGTCACCGTGCTAACACGTGCAGCAGCCTGTGTGGCTCAGGCCAGTCAGCTTCCCCTGGAAGCAAGTGTGAGGTCGTCGCCTCTGGAAGTGCTAGCGGAGGGTGATCTCCCGGAGGAAATCAGAGTGGTGTTCTACTAGAAGGCCGATGACTCCTGGGTAAAGTGCCAATGCTCACCTCCATCTCTGCAAGCTCAGTCCCTCGTGGAATTTCCAGGAGCACAAGGGCAATCTCGACAGCTCCACGTTCCCAGTGCCCGACCCAAGCCTGGCCCATGATCAGATAAATGCCTAAGTGGGGTGGCATGGACATTTGCACACGTCCAGACTGCTTTATGTTAGAAGCTGAGCTGGCATGCCACTAGCTGGTTTTGATGTAAACAACAATTTTGTAAAACCCTGGACTGAATGGGTCTGACTAACGGCTGGTTCTGTGAACTTGAGCCTCAGCGTCCTGTGTCAGAAGAGCACAAACCACTTTCCCAGAGAGGTTATGAAGACAGAAATGACCCTGTGACCCCTTTGCAAAGTATGAAGAACGGTTCCCACTCATGCATGGAGCTGGATCTTCTCAAGTGGGAAACAGGCGTGGTAAATAAATACTGTTGTTTCAGCTGGTGTAA)$ MMDSENKPENDEDEKINKEAQDLTKLSSHNEDGGPVSDVIASFPENSMGKRGFSESSNSDSVVIGEDRNKHASKRRKLDEAEPLKSGKQGICRLETSESSVTEGGIALDETGKETFLSDCTVGGTCLPNALSPSCNFSTIDVVSLKTDTEKTSAQEMVSLDLERESPFPPKEISVSCTIGNVDTVLKCSICGHLFSSCSDLEKHAESHMQQPKEHTCCHCSHKAESSSALHMHIKQAHGPQKVFSCDLCGFQCSEENLLNAHYLGKTHLRRQNLAARGGFVQILTKQPFPKKSRTMATKNVHSKPRTSKSIAKNSDSKGLRNVGSTFKDFRGSISKQSGSSSELLVEMMPSRNTLSQEVEIVEEHVTSLGLAQNPENQSRKLDTLVTSEGLLEKLESTKNTLQAAHGNSVTSRPRPERNILVLGNSFRRRSSTFTLKGQAKKRFNLLGIKRGTSETQRMYMKHLRTQMKTHDAESVLKHLEACSSVQRVCVTTSETQEAEQGQGSARPPDSGLHSLTVKPASGSQTLCACTDCGQVATNRTDLEIHVKRCHAREMKFYCRTCDFSSMSRRDLDEHLHSNQHQQTASVLSCQCCSFISLDEINLRDHMKEKHNMHFLCTPCNLFFLSEKDVEEHKATEKHINSLVQPKTLQSSNSDLVLQTLPLSTLESENAKESMDDSGKASQEEPLKSRVSHGNEVRHSSKPQFQCKKCFYKTRSSTVLTRHIKLRHGQDYHFLCKACNLYSLSKEGMEKHIKRSKHLENAKKNNIGLSFEECIERVCIGANDKKEEFDVSGNGRIEGHIGVQLQEHSYLEKGMLASEELSQSGGSTKDDELASTTTPKRGRPKGNISRTCSHCGLLASSITNLTVHIRRKHSHQYSYLCKVCKYYTVTKGDMERHCATKKHKGRVEIEASGKHSSDIIVGPEGGSLEAGKKNAGSAVTMSDEHANKPAESPTSVLEKPDRGNSIEAEVENVFHSLDGEVNSHLLDKKEQISSEPEDFAQPGDVYSQRDVTGTGENKCLHCEFSAHSSASLELHVKRKHTKEFEFYCMACDYYAVTRREMTRHAATEKHKMKRQSYLNSANVEAGSADMSKNIIMPEEEHQQNSEEFQIISGQPSDTLKSRNAADCSILNENTNLDMSKVLCAADSVEVETEEESNFNEDHSFCETFQQAPVKDKVRKPEEMMSLTMSSNYGSPSRFQNENSGSSALNCETAKKNHEISNDAGELRVHCEGEGGNAGDGGGVVPHRHLCPVTLDGERSAESPVLVVTRITREQGNLESGGQNRVARGHGLEDLKGVQEDPVLGNKEILMNSQHETEFILEEDGPASDSTVESSDVYETIISIDDKGQAMYSFGRFDSSIIRIKNPEDGELIDQSEEGLIATGVRISELPLKDCAQGVKKKKSEGSSIGESTRIRCDDCGFLADGLSGLNVHIAMKHPTKEKHFHCLLCGKSFYTESNLHQHLASAGHMRNEQASVEELPEGGATFKCVKCTEPFDSEQNLFLHIKGQHEELLREVNKYIVEDTEQINREREENQGNVCKYCGKMCRSSNSMAFLAHIRTHTGSKPFKCKICHFATAQLGDARNHVKRHLGMREYKCHVCGVAFVMKKHLNTHLLGKHGVGTPKEs|slmarrsrsllfcsagwapthrrrpcaftgtwmcslqpwrtagtaspspwwsetascmgevrlmirarwpag* 05BR043 ENSG00000049618.24 ENSG00000243004.6 +/+ -/+ chr6:156935576 chr7:19983325 CDS/splice-site intron translocation/5'-5' 0 3 0 98 28 medium out-of-frame . . . . ENSG00000049618.24 ENSG00000243004.6 ENST00000346085.10 . downstream upstream . ^(CACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACC___TTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCGGCGGGCCGCGTGGATGCGCACAGGAGGGGCCGCGGCCTGAAAAGTGGGGGTTATTGTCTCCCCCCGCCCCCCGCCCGGCCTCGCCACGCCGCGGCGATCATGGCCGCGCGGGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGCGGGCGCGGGCGCGGGCAGGCAGCGGCGAACGGCGGGCGCCCCCCGGGCCGCGGCCGGCGCCCGGAGCCCGGGACCTGGAGGCGGGGGCGCGCGGCGCGGCGGCGGCGGCGGCGGCACCGGGACCCATGCTGGGGGGCGGCGGCGACGGCGGCGGCGGCCTGAACAGTGTGCACCACCACCCCCTGCTCCCCCGTCACGAACTCAACATGGCCCATAACGCGGGCGCCGCGGCCGCCGCCGGCACCCACAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGGGTGGAAGCGCCGCCGCGCTGTCCTCCTCCTCCTCCTCCTCCGCGGCGGCAGCGGCGGCATCCTCTTCCTCCTCGTCGGGCCCGGGCTCGGCCATGGAGACGGGGCTGCTCCCCAACCACAAACTGAAAACCGTTGGCGAAGCCCCCGCCGCGCCGCCCCACCAGCAGCACCACCACCACCACCATGCCCACCACCACCACCACCATGCCCACCACCTCCACCACCACCACGCACTACAGCAGCAGCTAAACCAGTTCCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACATCCCATTTCCAACAACAACAGCTTGGGCGGCGCGGGCGGCGGCGCGCCTCAGCCCGGCCCCGACATGGAGCAGCCGCAACATGGAGGCGCCAAGGACAGTGCTGCGGGCGGCCAGGCCGACCCCCCGGGCCCGCCGCTGCTGAGCAAGCCGGGCGACGAGGACGACGCGCCGCCCAAGATGGGGGAGCCGGCGGGCGGCCGCTACGAGCACCCGGGCTTGGGCGCCCTGGGCACGCAGCAGCCGCCGGTCGCCGTGCCCGGGGGCGGCGGCGGCCCGGCGGCCGTCCCGGAGTTTAATAATTACTATGGCAGCGCTGCCCCTGCGAGCGGCGGCCCCGGCGGCCGCGCTGGGCCTTGCTTTGATCAACATGGCGGACAACAAAGCCCCGGGATGGGGATGATGCACTCCGCCTCCGCCGCCGCCGCCGGGGCCCCCGGCAGCATGGACCCCCTGCAGAACTCCCACGAAGGGTACCCCAACAGCCAGTGCAACCATTATCCGGGCTACAGCCGGCCCGGCGCGGGCGGCGGCGGCGGCGGCGGCGGCGGAGGAGGAGGAGGCAGCGGAGGAGGAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGAGCAGGAGCGGGAGCTGTGGCGGCGGCGGCCGCGGCGGCGGCGGCAGCAGCAGGAGGCGGCGGCGGCGGCGGCTATGGGGGCTCGTCCGCGGGGTACGGGGTGCTGAGCTCCCCCCGGCAGCAGGGCGGCGGCATGATGATGGGCCCCGGGGGCGGCGGGGCCGCGAGCCTCAGCAAGGCGGCCGCCGGCTCGGCGGCGGGGGGCTTCCAGCGCTTCGCCGGCCAGAACCAGCACCCGTCGGGGGCCACCCCGACCCTCAATCAGCTGCTCACCTCGCCCAGCCCCATGATGCGGAGCTACGGCGGCAGCTACCCCGAGTACAGCAGCCCCAGCGCGCCGCCGCCGCCGCCGTCGCAGCCCCAGTCCCAGGCGGCGGCGGCGGGGGCGGCGGCGGGCGGCCAGCAGGCGGCCGCGGGCATGGGCTTGGGCAAGGACATGGGCGCCCAGTACGCCGCTGCCAGCCCGGCCTGGGCGGCCGCGCAACAAAGGAGTCACCCGGCGATGAGCCCCGGCACCCCCGGACCGACCATGGGCAGATCCCAG___GGCAGCCCAATGGATCCAATGGTGATGAAGAGACCTCAGTTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAGCAGAGCAGTCCGTACCCAGGAGGTTCCTATGGCCCTCCAGGCCCACAGCGGTATCCAATTGGCATCCAGGGTCGGACTCCCGGGGCCATGGCCGGAATGCAGTACCCTCAGCAGCAG___GACTCTGGAGATGCCACATGGAAAGAAACATTCTGGTTG___ATGCCACCTCAGTATGGACAGCAAGGTGTGAGTGGTTACTGCCAGCAGGGCCAACAGCCATATTACAGCCAGCAGCCGCAGCCCCCGCACCTCCCACCCCAGGCGCAGTATCTGCCGTCCCAGTCCCAGCAGAGGTACCAGCCGCAGCAG___GACATGTCTCAGGAAGGCTATGGAA)CTAGATCTCAACCTCCTCTGGCCCCCGGAAAACCTAACCATGAAGACTTGAACTTAATACAGCAAGAAAGACCATCAAGTTTACCA|GCTCTGGAGCTCTACAATCAGCATGAGGCAAAGCCAGATAAGCCTGCGACCTGCTCTTCAGGGTGGTGAGATCCTCCAGACTCCAG___CACCCAGAGATGCTCTCCTGAGGCCCAGACCACCACTGCCAGCCATGGAGGAGGAGTGGCGTTGGCGATTCAGGACTGCTTTTTCTGTCTCTT MAARAAAAAAAAAARARARAGSGERRAPPGPRPAPGARDLEAGARGAAAAAAAPGPMLGGGGDGGGGLNSVHHHPLLPRHELNMAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQDSGDATWKETFWLMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLP|alelynqheakpdkpatcssgw* 05BR043 ENSG00000181090.21 ENSG00000232969.1(1608),ENSG00000260256.1(5689) +/+ ./- chr9:137619049 chr21:44342078 CDS/splice-site intergenic translocation 0 3 0 36 14 medium out-of-frame . . . . ENSG00000181090.21 . ENST00000460843.6 . downstream downstream duplicates(2) ^(GGGGCCA)CGCTGCGGGCCCGGGCCATGGCCGCCGCCGATGCCGAG|ACGGAGTCTCGCTCTTGTTGCGCAGACTGGAGTGCAATGGCACAGTCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGTTGGGATTACAGGCGCCCACTGTCAGGCCTCTGAGCCCAAGCTAAGCCACCATGTCCCCTGTGACCTGCACGTACACATCCAGATGGCTGGTTCTCGCCTTAACTGATGACATTCCACCATAAAAGAAG MAAADAE|tesrsccadwsamaqsrltatsasrvqaillpqppk* 05BR043 ENSG00000084710.14 ENSG00000224165.6 +/+ +/+ chr2:25149742 chr2:25035273 CDS/splice-site exon/splice-site duplication 0 3 0 51 5 medium out-of-frame . . . . ENSG00000084710.14 ENSG00000224165.6 ENST00000403714.8 ENST00000653368.1 downstream upstream duplicates(1) ^(AGCAGTGCCCAGCAACCCGAGCGGAGGCGGCCGCTGCAGCCCGGCGCTGAATGGGCTGGCGGCGCCCGGCTCCGTCCTGCCCGCGGCCGGCCCCCGCGTCTGCTCCCTCCCCGCCCGGGCCCCTGTCGGCCGCCGCCAGTCCCCGCCCCGACTGTGAATGAAAGGCGGGCGCCGCCGAGGGCTGGCTGGGAACGCCGCAGCGACGCCGGCCTCTCGAGAGGCGCGCGCCCCGCCGAGATGTACG___GTGTGTGTGGCTGCTGTGGTGCCCTACGCCCCAGGTACAAAAGGCTGGTTGACAACATCTTCCCTGAGGATCCCGAG___GATGGTCTGGTGAAGACCAACATGGAGAAGCTGACCTTCTATGCCCTCTCAGCTCCAGAAAAACTTGATCGTATTGGCGCCTACCTCTCTGAGAGGCTCATCCGTGACGTGGGTCGCCATCGATATGG___GTACGTGTGCATTGCTATGGAGGCTTTGGACCAGCTGCTCATGGCCTGCCACTGCCAGAGCATCAACCTCTTCGTGGAGAGCTTCCTCAAGATGGTGGCCAAGCTGCTGGAGTCAGAGAAACCCAACCTGCAGATCCTCGGCACCAACTCG___TTTGTGAAGTTTGCCAACATCGAGGAGGACACCCCGTCCTATCACCGGAGCTATGACTTCTTTGTGTCCCGATTCAGTGAAATGTGCCACTCGAGCCATGATGACTTAGAAATCAAGACCAA___AATTCGAATGTCAGGCATCAAAGGCCTGCAAGGGGTGGTGAGGAAGACGGTGAATGATGAACTGCAGGCCAATATCTGGGACCCACAGCACATGGATAAGATCGTTCCATCACTGCTTTTCAATCTACAGCATGTAGAGGAGGCAGAGAG___CCGGTCTCCCTCACCCCTCCAAGCACCTGAGAAGGAGAAAGAGAGCCCCGCGGAGCTGGCTGAGAGGTGTCTTCGGGAGCTGCTGGGCCGGGCTGCCTTTGGCAACATCAAAAACGCCATCAAGCCTGTTCTCAT___CCATCTGGATAACCATTCTCTTTGGGAACCCAAGGTGTTTGCCATCCGTTGCTTTAAAATCATCATGTACTCAATTCAG___CCGCAGCACTCACACCTGGTCATCCAGCAGCTCCTGGGCCACCTGGACGCCAACAGCCGCAGCGCTGCGACGGTGCGCGCGGGCATCGTGGAAGTCTTGTCGGAAGCCGCGGTCATCGCTGCCACCGGCTCTGTGG___GGCCCACAGTACTGGAGATGTTCAACACGCTGCTGAGGCAGCTGCGGCTCAGCATCGACTACGCGCTGACCGGGAGCTACGACGGGGCGGTCAGCCTCGGCACCAAGATCATCAAGGAGCACGAGGAGCGCATGTTCCAGGAGGCCGTCATCAAGACCGTGG___GCTCCTTTGCCAGCACGCTGCCCACCTACCAGCGCTCCGAGGTGATCCTCTTCATCATGAGCAAGGTCCCGCGGCCATCCCTGCACCAGGCGGTGGACACAGGCAGGACGGG___GGAGAATAGGAACCGTCTGACCCAGATTATGCTGCTAAAATCCCTCCTGCAG___GTATCCACAGGTTTCCAGTGCAACAACATGATGTCAGCCCTGCCTAGCAACTTCCTGGACCGCCTTCTCTCCACCGCCCTCATGGAGGATGCAGAAATTCGACTCTTTGTTCTAGAGATTCTCATCAGTTTCATTGATCGTCATGGCAACCGCCACAAGTTCTCTACCATCAG___TACCCTCAGTGACATCTCTGTCCTGAAGCTGAAAGTGGACAAGTGCTCTCGACAGGACACCGTCTTCATGAAGAAG___CACTCCCAGCAGCTCTACAGACACATCTACCTGAGCTGCAAGGAGGAAACAAACGTGCAGAAACACTACGAGGCGCTCTATGGCTTGCTGGCCCTCATCAGCATCGAGCTGGCTAACGAGGAGGTGGTGGTGGACCTCATCCGTCTGGTGCTGGCTGTTCAG___GACGTGGCCCAAGTCAATGAGGAGAACTTGCCTGTCTACAACCGCTGTGCCCTCTATGCTCTGGGCGCAGCCTACCTGAACCTCATCAGTCAGCTCACAACAGTGCCTGCCTTCTGCCAGCACATCCATGAG___GTGATAGAGACCAGGAAGAAAGAGGCTCCATACATGCTCCCCGAGGATGTGTTTGTGGAGAGGCCCAG___GCTGTCTCAGAATCTTGATGGGGTGGTCATTGAGCTCCTCTTCCGCCAGAGCAAGATCAGTGAAGTCCTGGGAGGCAGTGGCTACAACTCGGACCGGCTCTGCCTGCCCTACATTCCTCAGCTGACAG___ATGAGGATCGTTTATCCAAGAGGAGGAGCATTGGAGAGACCATCTCCCTGCAGGTGGAGGTAGAATCGAGGAACAGTCCGGAGAAGGAGGAG___)CGAGTGCCTGCCGAGGAGATCACCTATGAGACACTGAAGAAAGCCATTG|ATCAGCAGGAAGAAGAGATGGAAGCAACGCCATGGACCTTCACGTCCTTCAGAGTGTGGGTGGGCTTGGGCTTTGCAGTGAGAGCAAGTATCACCCAGGATGGAGATGGGAGGTAATGGGTGGCCCCGACAGGTGCCTCCTACTGCTGGCAGCAAG(GAGAGAGTGAAGAGGCAGAATTTCCTTGGTCTAGACTAGAGTCTGGGTCATGGGCATGGCAGTGCTTGAGCTTTTGACCAGAAGCAAGTGGACATGGATTTGAGCTTCGGGTAAGAAGGGAGACTTCTCTCCAGGGACCATAGGGGCTGGCAGCTGAAGAAGGTGACTTGGCCCCTCTCTAGAGGGTGAACGCAGGATCAATTCAAGGCCATGAAGTGGATGCAGCTGGGAGAGCCTGCTTGGTGCTTTTAAACCTCAACATGTCAACCGCAAATACCTCAAACACTGCTCACACCGTGGTAAAATCTAGTTGCGAAACCTGTCCCGCGGCAGCCTTCTCCATCCCAGGTGCCCAGGCCCCATCTCCTGGGAGCAGGCAGCTCTCCCCACCCCGATTCATGTCCCTCCTACAGCCCAAGGCAACTCCCTGCCACCTTGGTGAATGAAGCACATCATGCTGCCCAGGCTTCTGAGCTGTTTGCCGTGTTGCGGAGATGCAGCCTTCAGCCTTGGATACCCACCCACTCCTCTACTTGGGCATTGTTTTCACAGGCTGCTCTTCCCTGTAGCTTCAGAGAAGTAGGTCAAGTAGGTTAACTCGCTTTAAGGGAGAAGTGCCAGGGGTTCAAGTCACCCAGCCTGGAGGCAGGAATCCTGGGTTCTATTTTTGGCTTCACAGCTAATCCGCTGTGTGACAGTCGTTAGGAGCTCATTCTCCCCTCTGGGTCTCCCTGAGCCCTTCTCTAGGTCCCACAATTTTTTTTTTTTTCCCTGAAGCTATATTCCCTGGACTGTCATATTCTTCCCTCTTCCCTCCCTCTGGGAGGTGCTTTAAAGCCGTTGGCTGCTCAAGGCTGGCGCCCTAGGCAAGAGGGGCTGCAGTTGTTGTAGCTGATGAGGAGGAGATAAGAGGCTTTTCTGTAGACACAGTTGAGCTGATGGGCTGTGTGAGGCTGGAGTGCCAGGAAACCAGACTCCTGTAACTACAGGACAGGCCCTGGTGATGTGATGATGGGGATGTGACGGGGATGCTGAAGCCTGGAATGCGAGTGGGGGTTCCTGCGTTTTATGCAATGGCTGTAGATTTCCTCCCACTTCTAAGCCTCCCTTTCTGTGACACGCAGGGAAATTCAGTCTCTAGTTCATATGGAAACTTGGGACCTCACTGTGCTGCTTGCTCTTGGCAGAGGATATCATTTGAGCTGTCATAGCAGAGGACCACATTTACCAGGGTGCACTTTGGCCAAAGAATAGTAACCTTTCTAAGGCTTAGTTCCTCTGGCCTGACCAAACCAGTCCCAGGAGGCCCCTGGGTTCCAGTCAAGGTCATGGGAGAGGCCCACCATGGATGAGGCCTGGGGGAGCAGGGTGGAAATTAAGTGCCCAGGTATGTTATGGATAGCCTGCAGCCCTCTCCAATCCCTACCCTCCAAACCCAGTGAAGGGGGACATGAAACAGGTGAGGCAGAGGAGCAAATGCGGGTCAAGAATTCCGAACTATACTTGACTTACAGTGCAGCTGTGATGTGCACATTGGTGTGTGCCACGAGACAGCATAGTGTGGTGGAAAGAAAATGGGTTTTGAACAGAGTGTCCTGGGTTTGAATCTCTGCTTGCCCATGTACTAGAGAGTAGTCGAACCTCTCTGGGCCTCAATTTCCCAGATGTAAAATGGGAATAGTAGTACTTACCTTGCACGGGTGCTGAGAGAATTCCATGAGACGACACAACCCGTGTAAAGTGCCTGGCATAGGCATATCACATTAGGGCACTCAGTAAATGTGATGTCTTTTCTACTTGCCTTCCTGTCATACCGGTCCCCATGTTTTGGATTTCTGCAGCTAAAGTTAAGAAGCTTTTTAAGATAGGAATCCCAATTCTCACTTTGCCTCCTTTTCATAGCTCACCTAAATGGCTGACTTCTGTTCAGCACCTCTTCATGGGTGCACTATTCTGGAGAGGGAGATCCTAGAGTTCCCACCTTCTGTTTGTTTGTTTTTGTTTGTTTGTTTGTTTTTTTGTTTGGTTTGTTTTTGTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGATTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGTTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAGCTGAGACTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTCACCAGGCTGGTCTTGAACTCCTGACCTTGTGATCTACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCTGGCCAGCCCTTCTGTTCTAGACTGTGAGCCCGAAGACTGCATTCTCTCCCAGGCTCAGTTTCCTTATATACATAATGCCACCGTGGTCAACCTCTACAGCATCATTTCCTGCACATATTTTGTCTAAACACCTTGACTGCACCTCAGAGAAGCTGGGTATGGGCCGGATTCCTTTGCCATTTAATGCATACAGCCCGCAGAACAATGTTGTCTGCTGAGCCCCTGGGGGACAGCAGAGAATTGGAGCCTCTTTTCATGGTTCTCACAGGCCATGTGACACACAGATGGGAGAAGCTGGCATCTGCAGGGCCAAAGGCCTCTGGCCAAGGCACCCATACCAAAGGGGACAGACTGGCCAAAGCAGCCTTATCCCTATCTCCTTAGGAACCACATTCTAGTGGGATCTGTTTGGTGATACAGGTTGGGAGCATGGGTGGGGAAGCCTACCCCAGGCCTGATTCAGTCATGAGGATCCAGGAGCACCCTCCAATGGCTGTTGCTAACTACAGTTGCCAGATAAAACTTAGGTGGAATCTGAGTTTCAGAAAACAAACAAAAAATGTTTTTAGTATGTCTCACCTACTGCCTGGGGCGTACATTACAAATCAGTCCTTATATATTTGAAACTCAAATTACATTGGGCATCTTGTATTTTTATTTTTTTGAGACAGAGTCTCACACTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTTGCCATGTTGGCTAAGCTCGTCTGCTAACCCTAGAGCTGACAGGAAGGCTTTTGGGTTGGGCGGTTTTACGGGGAAAATACTCTGTAACAGCGTTTTTCCTTTACTCTCACATCACAACAATCAACGCAGAAGAGTTATGACCAAATGTCGGGGTGGGGGGGGGGCGTTTCCCCACACACCAAGCAGCTGGGTGTCCTCTAATGCAGTCTGACACTGAAAAGTAGTGTCAGATCCCACATTGGAGGGCTCAGTCCCCAAGACTGTTCCCCCAACACCAGTTGTAAGTCCAGACCTCCAGAACTTCTGACCAACTGGCTTCAAGTTGGGGTTCCCGTGACTCCCTCTTCGGGTTCAATTAATTTGCTGAAGTTGTTCAGAGGGACTGAAATTTACAAAGGTCAGAGATGGTAGAGGAAAGAGTATGGTAAGTGTGGTGTGCAAGCCCATCTAGTGGGAGCACAGTTGAGGAGGGAACAGGAGGTGGAAGCCAGGTGGGAAAGGAAGTCTGGGGCCCTGTTGGAAGGACCTTGAATGCTGTGTTGTTATGATAGACAGTTTTCCTCCATGATTCCTGGCTCATAACTCCCATAGCCCTTGTTACAGTCTTTTGTTGTAATATTGAGTGTGTTAGGCCACAGGAAACAGACTCTCTCCTTCTCCTGCCCTCCTTTCACCTGCCCCCAGGCAGGACTCTAATCTTTCCTGGACTTTCCAATGGTTGTTCTTAAGACCATTCCCAGAGAGGTTCCCACCCTATACCCCGGGGGAAGGAATGCTGACGTTATAAAGCTTTCATAAAAACCCAAGCGGACAGGGTTCAGGGAGCTTTGGGATAACTGAACACATCGAGGTTCCTGGAGGGTGGTGCCTGGGGGAGGGCTTGGAAGCCCTGTGCCCCTCCTCCCACACCTGAATTGTTTTTTCTTTTTCCCTTCATGAAACTCTTCCCTGCTCCTTGTATGTGCCTCCATAGTCATTATAA)$ MYGVCGCCGALRPRYKRLVDNIFPEDPEDGLVKTNMEKLTFYALSAPEKLDRIGAYLSERLIRDVGRHRYGYVCIAMEALDQLLMACHCQSINLFVESFLKMVAKLLESEKPNLQILGTNSFVKFANIEEDTPSYHRSYDFFVSRFSEMCHSSHDDLEIKTKIRMSGIKGLQGVVRKTVNDELQANIWDPQHMDKIVPSLLFNLQHVEEAESRSPSPLQAPEKEKESPAELAERCLRELLGRAAFGNIKNAIKPVLIHLDNHSLWEPKVFAIRCFKIIMYSIQPQHSHLVIQQLLGHLDANSRSAATVRAGIVEVLSEAAVIAATGSVGPTVLEMFNTLLRQLRLSIDYALTGSYDGAVSLGTKIIKEHEERMFQEAVIKTVGSFASTLPTYQRSEVILFIMSKVPRPSLHQAVDTGRTGENRNRLTQIMLLKSLLQVSTGFQCNNMMSALPSNFLDRLLSTALMEDAEIRLFVLEILISFIDRHGNRHKFSTISTLSDISVLKLKVDKCSRQDTVFMKKHSQQLYRHIYLSCKEETNVQKHYEALYGLLALISIELANEEVVVDLIRLVLAVQDVAQVNEENLPVYNRCALYALGAAYLNLISQLTTVPAFCQHIHEVIETRKKEAPYMLPEDVFVERPRLSQNLDGVVIELLFRQSKISEVLGGSGYNSDRLCLPYIPQLTDEDRLSKRRSIGETISLQVEVESRNSPEKEERVPAEEITYETLKKAI|dqqeeemeatpwtftsfrvwvglgfavrasitqdgdgr* 05BR043 ENSG00000282572.2 ENSG00000126856.14 -/- -/- chr7:31060 chr16:90075023 exon/splice-site CDS/splice-site translocation 2 0 0 152 4 medium . . |KRAB_box(100%),SSXRD_motif(100%) . . ENSG00000282572.2 ENSG00000126856.14 ENST00000633163.1 ENST00000449207.7 upstream downstream . ^(GCAGCAGCAGCAGCAACTGGATTTGCTTTTTCACCAGAGGATCCAGATTTCCCTGTGGCCTTGCAAACAAAAAAGAAGGAAGACGGAGCAGCACAGTCATCCCTTTGTGAAAAAAGCATTCAG___AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGCTGGTTTTTCAAAAGTCATGGCGTGTAATTGTCAGAACAGTGAACTTCGGAGATCCACCGGAGGGGCGAGGCCACAGCTCGACCGCGAGCACCTGAGCATCCTGCACCGCCTGCGACGGCCGTCAGGGGGCGCGATGCCGCCTCACAGAACCTCAAGCGGCGCCCGGGTTCCGGCACAGACGGCCTGCGGCTCCAGGGGGCGGAGCCGAGCCGTCTCCTCAGGACCTACGCAAGAGGCGCCGTCATCCCTACAGGGACACCTGAGAGGGCCCAGCCTCCTCCTCCTCAGGACCCACTCGGGAGA)CGCCGCTGGCTCTCTAGGAACACCTGGGGACCGTGGCCAGGGACGACCCAGCCTCCTTCTCCTCAGCTCCTCAGGAACGACTGGGGAAGCTGTGGCTTCATGGTCCCCGAGGCTGCCCGAGGAAAG|GTCTCAGAGCCACTCGACCAGCTTTCATGTGTCACCGAAGGCAGGCCATCAAACTCCAGGTGGATGACACAGAAGAgTCCGATGAAGAATGGACACCTAGGCAGCAAG(___TCAAACCTCCTTGGATGGCCTTCAGAGGAGAACAGAGTAAACACCAGAAG___GGAATGCCCAAGGCGTCATTCAATAATGAATCTAGTTTGAGAGAATTGTCAGGAACGCCAAATTTACTGAATACAAGTGACTCAGAGCAGGCTCAGAAACCAGTGTCCCCTCCTGGAGAAGCAAGTACCTCTGGACAGCACTCTAGACTAAAACTGG___AACTCAGGAGGAAGGAGACTGAAGGAAAGATGTATAGCCTGCGAGAAAGAAAGGGTCATGCATACAAAGAGATCAGCGAGCCACAGGATGATGACTACCTCT___ATTGTGAGATGTGTCAGAACTTCTTCATTGACAGCTGTGCTGCTCATGGGCCCCCTACATTTGTAAAGGACAGTGCAGTGGACAAGGGGCATCCCAACCGTTCAGCCCTCAGTCTGCCCCCGGGGCTGAGAATTGGGCCATCAGGCATCCCTCAGGCTGGGCTTGGAGTATGGAACGAGGCATCTGATCTGCCACTGGGTCTGCACTTTGGCCCCTATGAGGGCCGAATTACAGAAGACGAAGAGGCAGCCAACAGTGGATATTCCTGGCTA___ATCACCAAGGGGAGAAACTGCTATGAGTATGTGGATGGAAAAGATAAATCCTCGGCCAACTGGATGAG___GTATGTGAACTGTGCCCGGGATGATGAAGAGCAGAACCTGGTGGCCTTCCAGTACCACAGGCAGATCTTCTATAGAACCTGCCGAGTCATTAGGCCAGGCTGTGAACTGCTGGTCTGGTCTGGGGATGAGTATGGCCAGGAACTGGGCATCAGATCTTCTATAGAACCTGCCGAGTCATTAGGCCAGGCTGTGAACTGCTGGTCTGGTATGGGGATGAGTATGGCCAGGAACTGGGCATCAAGTGGGGCAGCAAGTGGAAGAAAGAGCTCATGGCAGGGAGAG___AACCAAAGCCAGAGATCCATCCATGTCCCTCATGCTGTCTGGCCTTTTCAAGTCAAAAATTTCTCAGTCAACATGTGGAACGCAATCACTCCTCTCAGAACTTCCCAGGACCATCTGCAAGAAAACTTCTCCAACCAGAGAATCCCTGCCCAGGGGATCAGAATCAGGAGCGGCAATATTCTGATCCACGCTGCTGTAATGACAAAACCAAAGGTCAAGAGATCAAAGAAAGGTCCAAACTCTTGAATAAAAGGACATGGCAGAGGGAGATTTCAAGGGCCTTTTCTAGCCCACCCAAAGGACAAATGGGGAGCTCTAGAGTGGGAGAAAGAATGATGGAAGAAGAGTCCAGAACAGGCCAGAAAGTGAATCCAGGGAACACAGGCAAATTATTTGTGGGGGTAGGAATCTCAAGAATTGCGAAAGTCAAATATGGAGAGTGTGGGCAAGGTTTCAGTGATAAGTCAGATGTTATTACACACCAAAGGACACACACAGGGGGGAAGCCCTACGTCTGCAGAGAGTGTGGGAGGGCTTTAGCCGGAAGTCAGACCTCCTCAGTCACCAGAGGACACACACAGGGGAGAAGCCTTATGTCTGCAGAGAGTGTGAGCGGGGCTTTAGCCGGAAGTCAGTCCTCCTCATTCACCAGAGGACACACAGGGGAGACGCCCCAGTCTGCAGGAAGGATGAGTAAGTCATTAGTAATAAAACCTTATCTCAATAGCCACAAGAAGACAAACGTGATCACCACA)$ . 05BR043 ENSG00000197965.12 ENSG00000198771.11 +/+ +/+ chr1:167765749 chr1:167683900 CDS/splice-site CDS/splice-site duplication 1 1 0 952 52 medium in-frame . Immunoglobulin_V-set_domain(100%)|RCSD_region(100%),WASH_complex_subunit_CAP-Z_interacting__central_region(100%) . . ENSG00000197965.12 ENSG00000198771.11 ENST00000359523.7 ENST00000367854.8 downstream upstream . ^(GCAGAGCTGGAGAGCCGCGGCTGGGACCGGAGTGGGGAGCGCGGCGTGGAGGTGCCACCCGGCGCGGGTGGCGGAGAGATCAGAAGCCTCTTCCCCAAGCCGAGCCAACCTCAGCGGGGACCCGGGCTCAGGGACGCGGCGGCGGCGGCGGCGACTGCAGTGGCTGGACGATGGCAGCGTCCGCCGGAGCCGGGGCGGTGATTGCAGCCCCAGACAGCCGGCGCTGGCTGTGGTCGGTGCTGGCGGCGGCGCTTGGGCTCT___TGACAGCTGGAGTATCAGCCTTGGAAGTATATACGCCAAAAGAAATCTTCGTGGCA)AATGGTACACAAGGGAAGCTGACCTGCAAGTTCAAGTCTACTAGTACGACTGGCGGGTTGACCTCAGTCTCCTGGAGCTTCCAGCCAGAGGGGGCCGACACTACTGTGTCG|GAAAGACCGGCAGAGACCAATGCCAATGTGGACAACTCGGCGTCCCCCTCGGTGGCCCAGCTGGCCGGGCGGTTTAGGGAGCAGGCGGCTGCAGCCAAGGAG___ACACCAGCCAGTAAACCAACCCGAAG(GAAACCGCCCTGTTCCCTCCCCCTGTTCCCCCCCAAGGTAGACCTGGGCCAGAATGGTGAGGAG___AAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAG___GCCAATTTAACCTTTGACCCAGCTGCTCTACTGCCTGGGGCCTCACCCAAGAGTCCTGGACTCAAGGCTATGGTGTCGCCATTTCACAGCCCACCTTCTACCCCCAGCAGCCCTGGTGTGCGATCTAGGCCCAGCGAGGCAGAGGAGGTGCCTGTCAGCTTCGACCAGCCCCCTGAAGGCAGTCATCTGCCCTGTTACAACAAG___GTGCGGACGAGGGGCTCAATAAAAAGGCGCCCTCCCTCCAGGCGATTCCGAAGGTCACAGTCAGACTGTGGAGAACTTGGAGATTTCAGGGCGGTGGAGTCATCTCAGCAGAACGGTGCTAAGGAAGAGGATGGGGATGAAGTGTTGCCATCCAAGAGCAAGGCCCCAGGATCCCCTTTGTCCAGTGAGGGAGCAGCGGGAGAGGGAGTGAGAACCCTGGGACCTGCTGAAAAGCCTCCTCTGAGGAGGTCACCCAGCAGGACAGAGAAGCAGGAGGAGGACAGGGCCACAGAGGAAGCCAAGAACGGTGAAAAGGCCAGGCGGAGTTCAGAGGAGGTGGACGGCCAGCACCCGGCCCAAGAGGAGGTCCCGGAATCGCCCCAGACCTCTGGCCCAGAGGCAGAAAATAGGTGTGGGAGCCCCAGGGAGGAAAAGCCAGCTGGAGAGGAAGCAGAGATGGAAAAGGCTACAGAGGTGAAGGGGGAGAGGGTGCAAAATGAAGAGGTGGGACCTGAACATGACAGCCAAGAAACAAAGAAGCTGGAGGAGGGAGCTGCAGTGAAGGAGACCCCCCACAGTCCCCCTGGAGGAGTGAAGGGCGGAGATGTCCCCAAGCAGGAAAAAGGCAAGGAAAAACAACAGGAGGGGGCAGTGCTCGAGCCAGGCTGCAGCCCCCAGACCGGCCCTGCCCAGCTGGAGACCAGCAGTGAGGTCCAGAGCGAGCCAGCAGTCCCCAAGCCGGAG___GATGACACTCCTGTCCAGGACACTAAAATGTGAAGAACAGCTCATTGTGCCCCAGTGATGAAGTTGCTGGACACATCTCTTTGCAGGTAGCAGCAACAGTTGTAGCAGCAGCAGACGAAGCCATTGCAGAGGCAGAATATGCTGAGTGTCTGGAGTCAGCCTGAAGACACAGGGTGGATTATTTCCTGGCCTCCACACCAAACGTTCCCTTGCAGATGGAGACTGAATCTGAGGGCAGCAGACTTTTATCAGCTTGAGTTTATGTCATTTGATGGACTTGGTTCAACAACAAGAACTTACTTAAAACAATGTACTGTGGTGATGAGTCCCAGGGGCACTGGTCAGCCTGTGGAGCCCTGGATGCTATCCACACCCACCTATCCCTGCAGCTAATTTAGCTGATCTCTAATTTAACTGAGCTCTAATTTAGCTGATCAGATTTTGCTTGGGTAAAGTTCCTTTTTAATGTTCTAAAGTGTTTACGGTTCTCAAATATCAGTTAAAAACTAATTTTAGGTGGCCATAAACATAAAATAGAAACCCTGTAAGTTACAGAAGACCCTAAATTGTATCAAAACCCTAGAGACAACTTTTCAATTTGATCCAAATTTGAACTGGCCAACCAGTCTTTAAAACACTGGACTAGAAGAGATAATGATTGAAACATTTAAAAAAAAAAAGTGCTCCATTCGCAGGAGCTTTTCCTGTCCTGTGGTTTTCCAGTTGGTGACCACCATGGGAGGTCGCTGGCTCGGCTCACTCCCTTCTCCCACCCTTGAGAATGTGGAGAACTCCCATGGAGAGGCAGAATGGCAGGAGGTTTCATGTCCCGCGTTGCATCTCCTCCTGAAAGAAAAGCAGTGATACCTGAATAATGCTGGCTCTCCGATTGATCCTGTGAGGATGAATTTGCATTTCCAGAATCCTTGAGCATGGATTAGATGTTTCCTGGGAGGTGCCTTGAGTACCATTATGTGCAAGCTACATAATTAAAACATTTTTCTTAGTTTCCCTGGGAAGCTTTTCTTGACTCACAGCCCAGGTTCTTCTGCCCAACACAAAAGGAGTGAGTTGGGGTCTTTAGTCTCTTCTTATTGGGTAGCTCTTGCTTTAATATTCTGTTTGGTGAGTGTAAGGGATTCTGCAAGGGACAGGGGGCCTGACTACCCAGTCTTTGACTTGTATCCTCTCCCCTCTTCATACACTCCTGCTGAAAAATGTTAATCCAAATACACATTTAAACTTAGGGTCGGTCCTTATTCTGATTTGAGTATTTTAATGTCTCAGTGTGCTGATTTGGTAGTTGGAAGAATTATTCTTCTGGAGGTCTGTTAGACTACATCCTACACTGACTTCAGAAAACAGTCTGTCAGACAAAAAGGCCTTATGTCACCACTGGTACCTCAGTTTCCTCATCCCATTTACAGTTTTTCTAACTCCAGGGTAGTGTTTAGTGTTAATATTTGGGATATATTTTTTTTCAAAACTGTTTTTAAGTAGTTTGTAATTTGTAACAAACTTGTAACCTGGTTGGGACTGATATTGTCATAGCTATGATAAACTTTGGATATTAGCAGAATTTGGGAGATGTGTGTGTCAATTATTTTGAGATCTATAAACTTGTCTGTCTATCTATCTAGCTGGCTAGCTTGCTATCAATCTAGCTACCATCCATTTATTGACAGAGAAGTCTACCCCTAAACAATACTTGGTTTTATTTATATATGTCTTTGGGTTGTTTATACACATGCACTATCTGGGCAAGTACTTTGTGAATATGTGCATGATTGTGAATGTGTGATGAAAAGGGCCACTTTACTTGAGGAAGGCATGGAACAGAAAGTATGGGGTTTAGATATGAAAAATGAAACTGCATTTTTCTTCTGGAGGGTCTAAACATAGTAGCAGACGAGAGAGGGGCAGTAAAAATGACAAGAATGTGACATTGCGGCACCATGCTTGTGGGCATCAGAATACCTTTCTATCCCCCAAGTCTCCTGTTAGTCACATTATTTGGTGTATTTTGTGAAAAAAATAGAGGCCCCATTCCCAGGGCTTGTTCATTAATAAAGGGGGCTCTTGGCAGGGAACTCATGAAGTACAGGGACTGATTTTTGTTGGTGCTGCAGCCCCACTGCTTAAAACTCTCCTTTCTCAAAGCAACCATGATCAGGTGTTTTATTTGCATGGTTGATACTGGAACTTCTAAATTTGGGATTAAAGAAATTCATCTGTGTCTTAGGTAGCACAAAGTTATTAACAGGCCAGGAAGACCTTGTTTCTTTCAGGCTTCCATAATGGGTTTGAAAGAAAACACGGATTCTTCTACAGCAACAGAGTTAAAGAAATAGTCATAGTCATTCTTCCACGATCTTTGTAGTCTAGCTTGAATTTCAAACTGTGTCCTTCCTTACTCCAGAGAGGGAGCAAGAAAAAAAACCTGGATGCTTTGAAGGGATCTGCCACTATTTAAAAGGGGATTAGGATTCTGTTTCAGCTGCATGTGGAACTAGGTAAGCTTCAGTGGCCTCAGAACTCCAGGCCCCTCACGGAGATCACCCTGAACAATGCCCAGTTTTTCATGCAGGTTTTGTCCTATGACCAGTTAACTACATGTTCAATAAATAAATGTCAAAGAAATAAATGCGTGAAAAGGCAACCAGTTCATCATCTTATGATTAGGTTTTCTTGATTAGGGATGTGTTTAGTACAGCTGAATGAACAAGTTCACCCAGCTGCTGGTGACAGAAACCCAACTCAAACTAGCTGATGAAAAACAGAACTATACAGATCAATGAATCTCTCCCCCTTTTTCAGCCTCATAGAACTGAAAAAAACAAACCTAAATACAGTCACCCAAGTGATGTCAGGAATCTCTCATGGTATTGGTCTCTGCTTTCCCTCGTATTGGCCATATTCTTTTTTTTTTCTTTTTTAAAAACTTATTTAATTAGTTTTCCTTAATAGTTGCAGCCAAGGCTGTCTCTTTTTTCTCTTCTTTTCTCTTCTTTTTTTTTGAATGAGACAGAGTCTCGCGCTGTCACTCAGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAACCTCTGCCTCCTGCATTCAAGCGATTCTCGTGCCTCAGCCTCCCAAGTACTGCAGTTACTTTTGCACCAACCTAATAGCTCGGATTACAAGTATGCACCACCATGCCCAGCTAATTTTTGTATTTTTTAGTAGAGACCAGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCTAGTGATCTGCCTGCCTCGGTCTCCCAAAGTGGGATTACAGGCATGAACCACCACGTCCAGCCAGTCATTTTCTTAAGTAGGTTCTTCCCAGCCTGCAAACCCAGTGAAAGGGCTTATTCTTTCACCATTACTGTGGGGAAAAAGTCCTGTAGAGGCTTTCCATAGGCCCTGTGTGACTCACGTGTCTATACCTGAATCAACTGTTACAACCAAGCAGATGCAGAGACTGCGTGCCCTCTCCTGGAGCTAGGAGCTAGGTGAGTCAATCCTGCACTTTCTCTACAAGGCTTGCAAAGGTGAGCAAGAAGATTCCCCAAAGTGAAATCAGGGTGCTGTTACCAAAAGAAGCTATGCTGGCAGGCAAAAAACAACAGCTGTTTCCCATAGGGCAAAACCTGAAACACCCAATTACTATCCCATTGTTTGCTTCAAAATTAAATTTTGTTTGACCCCAACTAGTTCTAGTCAAGTTTTTGCTCGATGGACCACGTGAAAAAAGGATAAACAATGTCTCTATATAATGCATGATCAGGTGGTTTATGAAGATGTCAAGAGCACTGAACAAAATCCAAATGCTCACATAAAATGGGATTAGGTTTCATAAGCCACCCAAGAAAATCAGTCTCATTATTTTATGTAATAATGTATTACTGTGCCCAGAGCTAACCTGTAGCTCTAGGGGAGTACAATGTGTTTGTATTATTCTTCATTGTACACAGTGCCTCAGACATAGTAGGTATTCAATAAATATTTGTTAAATCATGAA)$ MAASAGAGAVIAAPDSRRWLWSVLAAALGLLTAGVSALEVYTPKEIFVANGTQGKLTCKFKSTSTTGGLTSVSWSFQPEGADTTVS|ERPAETNANVDNSASPSVAQLAGRFREQAAAAKETPASKPTRRKPPCSLPLFPPKVDLGQNGEEKSPPNASHPPKFKVKSSPLIEKLQANLTFDPAALLPGASPKSPGLKAMVSPFHSPPSTPSSPGVRSRPSEAEEVPVSFDQPPEGSHLPCYNKVRTRGSIKRRPPSRRFRRSQSDCGELGDFRAVESSQQNGAKEEDGDEVLPSKSKAPGSPLSSEGAAGEGVRTLGPAEKPPLRRSPSRTEKQEEDRATEEAKNGEKARRSSEEVDGQHPAQEEVPESPQTSGPEAENRCGSPREEKPAGEEAEMEKATEVKGERVQNEEVGPEHDSQETKKLEEGAAVKETPHSPPGGVKGGDVPKQEKGKEKQQEGAVLEPGCSPQTGPAQLETSSEVQSEPAVPKPEDDTPVQDTKM* 05BR044 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 28 12 0 229 126 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(6),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGC)AGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05BR044 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 17 1 43 52 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(3),mismappers(1),mismatches(1) TGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___...AGGTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCG(ACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05BR044 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 16 10 1 143 130 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(6),low_entropy(1),mismatches(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTA)GCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 05BR044 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 6 21 0 38 132 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(5),mismappers(1),mismatches(1) CGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC------AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAG(TATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 05BR044 ENSG00000039068.19 ENSG00000103047.8 +/+ +/- chr16:68738411 chr16:68970129 CDS/splice-site intron inversion/3'-3' 9 16 0 362 50 high out-of-frame . Cadherin_prodomain_like(100%)| . . ENSG00000039068.19 ENSG00000103047.8 ENST00000611625.4 . downstream downstream duplicates(2) ^(AGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCAT)GGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAG___GTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAG|GTGTGAACTTGTATCCCAGGCTGGCCAGTTAGGATCTTCCATTCCATCCCCACCACCATGACTGGTTCAGGAACAGGGAATGAGATTCGATCCTGAAACCCACATTGACACTACTGGGAAAGATAAATTCCCCTCCCCACCACCCATTGAAGAGACTAATCTGGAGCTGCCAGTGGCCACCATGTGGAAAAAGCCCACACAAGAATGACACCAACACAGAGGGAGAGCCAGCCTGAGAGGGAGGGAGAAGAAGAAGAAGAGACCCGATGGCATCTTTTCAGCTCCGGGACCCAGGTGTACTCCACCCACTCGACTTTCT MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGR|gvnlyprlas* 05BR044 ENSG00000275597.1 ENSG00000185304.15 -/- -/- chr2:87980715 chr2:87818623 exon CDS/splice-site deletion/read-through 6 12 0 135 65 high . . |GRIP_domain(100%),Rab_binding_domain(100%),RanBP1_domain(100%) . . ENSG00000275597.1 ENSG00000185304.15 ENST00000617314.1 ENST00000398146.4 upstream downstream duplicates(3),mismatches(1) ^(GTGGGAAAGGTTTTTATTCCTGGACTGCCAGCTCCCTCTCTGACGATGTCCAACACAATGCCTCAGCCCAGTACTTCACTTGATGGCGTTAGTGCTCCAAAGCCTCTTAGTAAACTCCTTGGATCATTGGACGAG___GTTCTTCTGTTGTTCCCAGTTCCAGAACTGAGGGATTCTTCAAAACTTCATGATTCTCTCTATAATGAGGATTGTACTTTCCAACAGCTTGGAACTTACATTGATTCTATCAGAGATCCTGTCCATAACAGAGTCACCCTA___GAACTGAGTAATGGCTCCATGGTTAGGATCACTGTTCCTGAAATTGCCACCTCTGAGTTAG___TACAAACATGTTTGCAAACAATTAAGTTTATCCTGCCAAAAGAAATAGCAGTTCAGATGCTTGTCAAGTGGTACAATGTCCACAGTGCTCCAGTAGGA)CCCAGTTATCACTCAGAGTGGAATTTATTTGTGACTTGTCTCATGAACGTGATGGGTTTTAACACAGACCGCTTAGCATGGACTAGAAAT___TTTGACTTTGAAGGATCACTTTCCCCTGTCATTGCACCCAAAAAAGCAAGGCCTTCTGAGACTGGATCTGATGAT|AAGTTGAGAGGATTCTATTTTGCAAAGCTGTATTATGAAGCTAAAGAATATGATCTTGCTAAAAA___ATACGTATGTACTTACCTTAGTGTGCAAGAGAGGGATCCCAGAGCTCACAGATTTCTGGGTCTTCTTTATGAATTGGAAGAAAACACAGAGAAAGCCGTTGAATGTTACAGG___CGTTCACTGGAATTAAACCCACCACAAAAAGATCTTGTGTTGAAGATTGCAGAATTGCTTTGTAAAAATGATGTTACTGATGGAAGAGCAAAATACTGGGTTGAAAGGGCAGCGAAACTTTTCCCAGGAAGTCCTGCAATTTATAAACTAAAG___GAACATCTTCTAGATTGTGAAGGTGAAGATGGATG(GAATAAACTTTTTGACTGGATTCAGTCAGAACTTTATGTAAGACCTGATGACGTCCATATGAACATCCGGCTAGTGGAGTTGTATCGCTCAAATAAAAGATTGAAGGATGCTGTGGCCCGCTGCCATGAGGCAGAGAGGAACATAGCTTTGCGTTCAAGTTTAGAGTGGAATTCGTGTGTTGTACAGACCCTTAAG___GAATATCTGGAGTCTTTACAGTGTTTGGAGTCTGATAAAAGTGACTGGCGAGCAACCAATACAGACTTACTGCTGGCCTATGCTAATCTTATGCTTCTTACGCTTTCCACTAGAGATGTGCAGGAAAGTAGAGAATTACTGGAAAG___TTTTGATAGTGCTCTTCAGTCTGCAAAATCTTCTTTGGGTGGAAATGATGAACTGTCAGCTACTTTCTTAGAAATGAAAGGACATTTCTACATGCATGCTGGTTCTCTGCTCTTGAAGATGGGTCAGCATGGTAATAATGTTCAATGGCAAGCTCTTTCTGAGCTGGCTGCATTGTGCTATGTCATAGCATTTCAG___GTTCCAAGACCAAAGATTAAATTAATAAAAGGTGAAGCTGGACAAAATCTGCTGGAAATGATGGCCTGTGACCGACTGAGCCAATCAG___GGCATATGTTGCTAAACTTAAGTCGTGGCAAGCAAGATTTTTTAAAAGAGGTTGTTGAAACTTTTGCCAACAAAAGCGGGCAGTCTGTGTTATATAATGCTCTGTTTTCTAGTCAGTCATCTAAGGATACATCTTTTCTTGGTAGCGATGATATTGGAAACATTGATGTACAAGAACCAGAGCTTGAAGATTTGGCTAGATACGATGTTG___GTGCTATTCAAGCACATAATGGTAGTCTTCAGCACCTTACTTGGCTTGGCTTACAGTGGAATTCATTGCCTGCTTTACCTGGAATCCGAAAATGGCTAAAACAGCTTTTCCATCATTTGCCCCAGGAAACCTCAAGGCTTGAAACAAATGCACCTGAATCAATATGTATTTTAGATCTTGAA___GTATTTCTCCTTGGAGTAGTATATACCAGCCACTTACAATTAAAGGAGAAATGTAATTCTCACCACAGCTCCTATCAGCCGTTATGCCTGCCCCTTCCTGTGTGTAAACGGCTTTGTACAGAGAGACAAAAATCTTGGTGGGATGCGGTTTGTACTCTGATTCACAGAAAAGCAGT___ACCTGGAAACTCAGCAGAATTGAGACTTGTAGTTCAGCATGAAATAAACACTCTAAGAGCCCAGGAAAAACATGGCCTTCAACCTGCTCTGCTTGTACATTGGGCAAAATGCCTTCAGAAAATG___GGCAGGGGTCTTAATTCTTCTTATGATCAACAAGAATACATAGGGAGAAGTGTTCATTATTGGAAGAAAGTTTTGCCATTGTTGAAGATAATAAAGAAGAACAGTATTCCTGAACCTATTGATCCTCTGTTTAAACATTTTCATAGTGTAGACATTCAG___GCATCAGAAATTGTTGAGTATGAAGAAGATGCACACATAACTTTTGCTATATTGGATGCAGTACATGGAAATATAGAAGATGCTGTGACTGCTTTTGAATCTATAAAAAGTGTTGTTTCTTATTGGAATCTTGCACTG___ATTTTTCACAGGAAAGCAGAAGACATTGAAAATGATGCCGTTTTTCCTGAAGAACAAGAAGAATGCAAAAATTATCTGAGAAAGACCAGGGACTACCTAATAAAGATTATAGATGACAGTGATTCAAATCTTTCAGTGGTCAAGAAA___TTGCCTGTGCCCCTGGAGTCTGTAAAAGAGATGCTTAAGTCAGTCATGCAGGAACTCGAAGACTATAGTGAAGGAGGTCCTCTCTATAAAAATGGTTCTTTGCGAAATGCAGATTCAGAAATAAAACATTCTACACCATCTCCTACCAAATATTCACTATCACCAAGTAAAAGTTACAAG___TATTCTCCCAAAACACCACCTCGATGGGCAGAAGATCAGAATTCTTTACGGAAAATGATTTGCCAAGAAGTAAAGGCCATTACG___AAACTAAATAGCAGTAAGTCAGCATCCCGTCATCGTTGGCCCACAGAGAATTATGGACCAGACTCGGTGCCTGATGGATATCAGGGGTCACAGACATTTCATGGGGCTCCACTAACAG___TTGCAACTACTGGCCCTTCAGTATATTATAGTCAGTCACCAGCATATAATTCCCAGTATCTTCTCAGACCAGCAGCTAATGTTACTCCCACAAAG___GGTTCTTCTAATACAGAATTTAAGTCAACCAAAGAAGGATTTTCCATCGCTGTGTCTGCTGATGGATTTAAATTTGGCATTTCGGAACCAGGAAATCAAGAAAAGAAAAGTGAAAAGCCTCTTGAAAATGATACTGGCTTCCAGGCTCAGGATATTAGTGGCCAGAAGAATGGCCGTGGTGTGATTTTTGGCCAAACAAGTAGCACTTTTACATTTGCAGATGTTGCAAAATCAACTTCAGGAGAAGGATTTCAGTTTGGCAAAAAAGACCCCAATTTCAAGGGATTTTCAGGTGCTGGAGAAAAATTATTCTCATCACAATGCGGTAAAATGGCCAATAAAGCAAACACTTCCGGTGACTTTGAGAAAGATGATGATGCCTGTAAGACTGAGGACAGCGATGACATCCATTTTGAACCAGTAGTTCAAATGCCTGAAAAAGTAGAACTTGTAACAGGAGAAGAAGGTGAAAAAGTTCTGTATTCACAGGGGGTAAAACTATTTAGATTTGATGCTGAGATAAGTCAGTGGAAAGAAAGGGGCTTGGGGAACTTAAAAATTCTCAAAAATGAGGTCAATGGCAAACCAAGAATGCTGATGCGAAGAGACCAAGTACTAAAAGTGTGTGCTAATCATTGGATAACAACTACAATGAACCTGAAGCCCCTCTCTGGATCAGATAGAGCATGGATGTGGTTAGCCAGTGATTTCTCTGATGGTGATGCCAAACTAGAGCGGTTGGCAGCACAATTTAAAACACCAGAGCTGGCTGAAGAATTCAAGCAGAAATTTGAGGAATGCCAGCGGCTTCTGTTAGACATACCACTTCAAACTCCCCATAAACTTGTAGATACTGGCAGAGCTGCCAAGCTAATACAGAGAGCTGAAGAAATGAAGAGTGGACTGAAAGATTTCAAAACGTTTTTGACAAATGATCAAACAAAAGTCACTGAGGAAGAAAATAAGGGTTCAGGTACAGGTGCAGCCGGTGCCTCAGACACAACAATAAAACCCAATCCTGAAAACACTGGGCCCACATTAGAATGGGATAACTATGATTTAAGGGAAGATGCTTTGGATGATAATGTTAGTAGTAGCTCAGTACATGATTCTCCGTTGGCAAGTAGCCCTGTGAGAAAAAATATTTTCCGCTTTGATGAGTCAACAACAGGATTTAACTTCAGTTTTAAATCTGCTTTGAGTCTATCTAAGTCTCCTGCCAAGTTGAATCAGAGTGGGACTTCAGTTGGCACTGATGAAGAATCTGATGTTACTCAAGAAGAAGAGAGAGATGGACAGTACTTTGAACCTGTTGTTCCTTTACCTGATCTAGTTGAAGTATCCAGTGGTGAGGAAAATGAACAAGTTGTTTTTAGTCACATGGCAGAACTCTACAGATATGATAAAGATGTTGGTCAATGGAAAGAAAGGGGCATTGGTGATATAAAGATTTTACAGAATTATGATAATAAGCAAGTTCGTATAGTGATGAGAAGGGACCAAGTATTAAAACTTTGTGCCAATCACAGAATAACTCCAGACATGAGTTTGCAAAATATGAAAGGGACAGAAAGAGTATGGGTGTGGACTGCATGTGATTTTGCAGATGGAGAAAGAAAAGTAGAGCATTTAGCTGTTCGTTTTAAACTACAGGATGTTGCAGACTCATTTAAGAAAATTTTTGATGAAGCAAAAACAGCCCAGGAAAAAGATTCTTTGATAACACCTCATGTTTCTCGGTCAAGCACTCCCAGAGAGTCACCATGTGGCAAAATTGCTGTAGCTGTATTAGAAGAAACCACAAGAGAGAGGACAGATGTTATTCAGGGTGATGATGTAGCAGATGCAGCTTCAGAAGTTGAAGTGTCTAGCACATCTGAAACAACAACAAAAGCAGTGGTTTCTCCTCCAAAGTTTGTATTTGGTTCAGAGTCTGTTAAAAGAATTTTTAGTAGTGAAAAATCAAACCCATTTGCATTTGGCAACAGTTCTGCCACTGGGTCTTTGTTTGGATTTAGTTTTAATGCACCTTTGAAAAGTAACGATAGTGAAACTAGTTCAGTAGCCCAGAGTGGATCTGAAAGCAAAGTGGAACCTAAAAAATGTGAACTGTCAAAGAACTCTGATATCGAACAGTCTTCAGATAGCAAAGTCAAAAATCTCTCTGCTTCCTTTCCAATGGAAGAATCTTCAATCAACTACACATTTAAAACACCAGAAAAGG___AGCCTCCATTATGGCATGCTGAATTTACCAAAGAAGAATTGGTTCAGAAGCTCAGTTCCACCACAAAAAGTGCAGATCAGTTAAACGGCCTGCTTCGGGAAACAGAGGCAACCAGTGCAGTCCTTATGGAGCAAATTAAG___CTTCTCAAAAGTGAAATAAGAAGATTGGAAAGGAATCAAGAGGAGTCTGCAGCTAACGTGGAACACTTGAAGAACGTCTTGCTGCAGTTCATTTTCTTGAAGCCAGGTAGTGAGAGAGAGAGCCTTCTTCCTGTTATAAATACGATGTTGCAGCTCAGCCCTGAAGAAAAGGGAAAACTTGCTGCGGTTGCTCAAG___GTCTTCAAGAAACCTCCATACCCAAGAAAAAATAGAAAGCAACCATGTTCTACTATGGTGCCAAAAATAGTTGAACATCGACATCAAAAAGATTCTTTCTGTCTGCTTATTCACATATTCTGGTTTGAATTAAAAGTGATGAAATTATCCTAAATACAGTTGGCCCTCTGTATCCATGGGTTCCACATCCACAAATTCAACCAACTGTGGATGGAAAAGACTTGAAAAAGATGAGAGAAAATAACAATATGACAATAAAACATAATACAAATAAAAACAATACAGTATAACAACGATTACATAGCATTTACATTATATTAGGGATTGCACAAGAGAAGGTATGTAGGTTATATGCAAATACTGCACCATTTTACATAAGGGACTTGAGAAGCATGGATTTTGGTAGCCACAGGGGTCCTGGAACCAATCCCTCACAGACACAGACGGACACTTTACAGTAGATGAACACAAAGATGAAAGGAAAAGTCTGACCTAGGTCTGCGGGGAGAAGTGGAACTCCATTTTTGACAGGTGATGCCATTTTTTGTTTTGGACATCGTCCCTCTGTAGTTCTTTCCATTCCCAGTCTTGCACTCTGAAAGATACACTGAAGGAAAGTCCACACAGTGGTCAAAGTCTTTCACAAGACACCACGTGAAGGTCTGCACAGCACAGTCACATTGAGAAAAAGATCTCATGCACCAGACCCCCTGTTTCTGCTTTCTAAAAGATCATCTTTTGCACCTGCAAAAAGGCTGCAGTAAACTGGGCCATTCCATACTTTGATTCATGTATTCAAATGCTACTTATGAGCTCTCTGTGTATTGAGCCCCACCAGGATGCTGGGGACACACGGGGCACAGTGCAGCCAGAGGCTTGGCCATCATAGAGCTCACATTCTAGTGGAATCAGACAGGGGGGTTACAGGAAATATTCAAGTAAACAATATAAAATGAGATCACTTAATGATGATACATGGATACATGTTACATACATGATGAGACAGAGTAAGAGAATGGGGAAAGGGTTTTTAGATGGGGGAATGGCAGGCTTTTCCGAGGCTGAAAGAGATCCAACCCACTTCTATTTCTTCAGGCTCCCAGTGATATGAAAAAGTGCCAAACAGGACTATAAAATTGTGGTCTACTGTAAATGGTTTGCAGTAAAAGTTCTCAACCAGCTTCCACTCAACCAACTCACCAGTTAGACAATGGGCCCTCTCCTGTGTTTAAAACAGTCCGGTGCCCACCTGGGTCCACATGCAGCTGGCAGGTGTTTGCTAGTGTGCCCACCCATGTCTGTTCCCCCCACGTGAGTTATGTGCTTACAACGAGTCGTTTCTTTGCATTTTCCAACTTTCTTACATTTATATTTAATTAAAGATGATCTAAACTGAGAAATGAATGTGAAAAGAAACAAAGCTCTTTTTTGTTTGGTTTTTAACTAAATTAAATGTTTTTAACAAGT)$ . 05BR044 ENSG00000156052.11 ENSG00000136935.14 -/- -/- chr9:78031100 chr9:124889536 CDS/splice-site CDS/splice-site duplication 9 5 0 47 49 high out-of-frame . G-protein_alpha_subunit(100%)| . . ENSG00000156052.11 ENSG00000136935.14 ENST00000286548.9 ENST00000373555.9 upstream downstream duplicates(3) ^(GTTGCCGGGCGGGACGGGAACCGGGTCTGCGCGCGAGCCGGGCGGTGGGCGCGGACAGGGCCGAGGGCGCCCGGGAGCCGTGTCAGGCGGCGGCGAGGAGCGGGCGCGCCGGGCGCGGGGAGCCGTCGGCGGCCGCTCGCTGCGGGGACACCCCGGTGAATGAGCTCTCGCCGCCAGGCGCACGGCGTAGGGGAGCCTCGCAGGCGGCGGCGGCGGCGGCGGCTCGGGGGGCGAGGCGGGCCGCCTGTTCCCGGGGAAGGAGGCGCGGGCGTCTGAGCGAGGCCGGGCGCGGCGGCCTTCTCTCACGCGCCCCCCGAGCCAGCGCCCGCCTCCCGCGCCCGCCTCTCTTCTCCCGTCGGCCCAGACTATCCGCTCCCACCGCGCCCCCGGCCCACCTGGTGGCCCCGGCCCTGGCCGCCGCCCCCGCGGCGGTTCCCGGAGCTCGTCCCGGACGCGCGCCCGGGCGGCGGGGGCTCGGCGGCCACCGCTGCCTCGGGGGAGCGAGGGCGGGAGGGTGTGTGTGCGCGCTGT)GAGCAGGGGGTGCCGGCGGGGCTGCAGCGGAGGCACTTTGGAAGAATGACTCTGGAGTCCATCATGGCGTGCTGCCTGAGCGAGGAGGCCAAGGAAGCCCGGCGGATCAACGACGAGATCGAGCGGCAGCTCCGCAGGGACAAGCGGGACGCCCGCCGGGAGCTCAAGCTGCTGCTGCTCG|GCAGCTAACCTGACAGCCATAATAGACGAGAAGGAACAGAATCTGCGGGAAAAAACCGAAGTGCTTCTCCAGAAAGAGCAGGAGATTCTCCAGCTGGAGCGAG___GTCACAACTCTGCCCTGCTGCAGATACACCAGCTGCAGGCCGAGCTGGAGGCCCTGAGGACCCTCAAGGCGGAGGAGGCTGCAGTGGTCGCGGAGCAGGAGGAC(CTGCTGAGGCTGCGGGGCCCATTGCAGGCCGAAGCACTCTCAGTCAATGAGTCGCAC___GTGACCTCGAGGGCCATGCAGGACCCTGTGTTCCAGCTTCCAACTGCAGGAAGAACACCAAATGGTGAGGTTGGGGCCATGGATCTCACACAGCTACAGAAGGAGAAACAGGACTTGGAGCAGCAACTTCTGGAGAAAAATAAG___ACCATAAAGCAGATGCAGCAGCGGATGCTGGAGCTCCGGAAGACTCTGCAGAAGGAGCTG___AAAATCAGACCCGATAATGAGCTCTTCGAAGTCCGGGAGAAACCTGGACCTGAGATGGCAAACATGGCGCCTTCCGTCACGAATAACACTGACCTGACAGATGCCCGCGAGATCAACTTTGAGTACCTTAAACATGTGGTTTTAAAATTCATGTCTTGTCGCGAATCCGAG___GCTTTTCATCTTATAAAAGCTGTGTCAGTGTTGCTGAACTTTTCCCAAGAGGAGGAGAACATGCTCAAGGAAACTCTGGAATATAAG___ATGTCATGGTTTGGGTCCAAACCAGCTCCCAAGGGCAGCATCCGGCCGTCTATCTCAAACCCTCGGATACCATGGTCCTAGAGGGGACTACCCAAGGATGGAGCTCCGTGGGTTGACACTTTTTCTGTGAAAAGAACACTGACACACCAGTCTGGGTGGGTTTTTAATCACTGTAACTGCAGTATTTTGTACAAGTGTCTAAACATTGTTTACAAGACTAAGGCCCACTTCCCTGCAGGCTGACCTGAACCTCAGGGGGTAGCTGATCCTGTCATTCTGGTCACCAAACAGGAGGGTCCTGGCACTACCCAGATTTCCACAGTGCTGCTAATATCCCAGCTCCAGCCAGCACCCCATCTGCACCTGAATCCTCTAACTTCACGGTAGCACTTACAGCTGAAGCCATCAGCATCTGGCAGGCACACCTGAGTCACCATGTAGCGCTGCTACTGGAGGTAGAGACGGCCCTTTGAGATGGTGCCCAGCAGGCCAAACCCACCTGCCTCTGCCAGGAACAGCCAACTCCATGGGAACTCTATGGGAGTGGCTTTTAAAAATTCAGATGAGTTAGAAGCTTTTTATCCCTTCCTCTCAAGAAAATATTCTTTCACCCTGTCTCTCAAACCACCTAGAACTTTAGAGGATCCATCTTTAAGGGTCGGTGTGGATGAATGAGAAAATGCACCTTTCTGACAGTATCTCCACTTTACTTAAGAAAACTAGCAAATATATGAAAAGACCCTTAGTACCAAATACACTCAATTGCCTTTTTAATGAATGTACTTGTCTTGGATAGGTTGCTGGTAAACCATTTTAAACTATTTTTTATAGCTGAAGTTCTTCACTACTATAAACATGTCTTCTGTACTATAAAATCCATTTAACTGGTGTTCTTAAAATCAGAGCGTCCAGAGGAAATTCTTCCTAAAACTAGGATTCCTGTTCCTTTGTCTTCTCACTCGCACTCTGGCACTGCTCCCTCTGAAGTGCAGTGGGATCTCGTGTGCTTTGTCTTGATTCTGTGCTGCGCTGCCGCTGGGCGATGCAGACCACCTGTCTTCTACTGAAGGACAGTCCGCTGTCTCCAGTGGGGGCAGCAGCTGTCCCCCAGCCTCGATGGAGACACTGGGGCAGTCTGCCTTGTCTGTGGAGCTGCTCTCTCTCCCTCATCCCACCCCAAATACTTAAAATGACACTACACCCAGACGGCGCCCAGCTGGCTGCAGCACTTGTAGCATGCACATGACTCTGGTAGTAACCAACAAAAACTTGTTTTATGGATTCCTCGTTTACTGAGGAAAGGGAACATGCTGGTTCTGGAAAAGCCACAATATTGAATCTAAAAGGAAACCGTTTATTGTTTGATGAAAGTTTCACTGGTTAAATAAAAAACTAAATTAATAACTGGAGCCTCTAAATTTATTATCCATTATCCAGTGATGGAAAGTTGTATTTCTCAATCATGCTTAGGGCCAAAATAGGTATATAAAATGTGTCACAGAAAAACACGCATTTGCAACGTTAACCTAACGAAATTTCCATGAAGAACCAAGTCAGGGCAGCATCTCCTTAGTCCCAGCTCAGGCTCTCTGCCTTCCAGAGGCCGCTTCTCCAGTGACTAACCTCCTCCTCTGGCTCCTCCTTGCAGACAGTTATCCCTTGTTTAGAACACGAATTTCCATTTACCTGGTGGGAACACGAAACAGGAGTCTCTTCTGTTCTGCAAGTTTGATGGGTAAGAGGTAGCCTTTTTTCAAAGTAGGATTTCCTTTTTCAACTGTTCCAGGAAAGAATCTCTAAGACTGGGTAGCTCACAGCCAGCCAAAGGCAGCTACATTTCCACAGAAGCCCATCCGCTGCCTCCGTGGCTTCTCCAGCCATTGAACTGGTCCCACACGCACCCCAGGCCCCACTCCTCGGCAGTTTCAGGTGTAGCTGTGGGGCCCGTTCCTAGGTCTGTACTCACTTTAGGGAGGCTTCACTGACTAGGCTTTCCTCCTGCATGTTGAATTTCCTTCAGCTTTAAGAGGAAGAGTGGAATAAATATTCTAAGTGATTTAATGCACTTTGACTTGTATAAAACTTTCTGTGTTAGCGACGGTATCTATAGCCCTTTATACGAGCGATGGATCTTGAGCTCTCCTTCCATGTTGTAAATAGGGATTGTATTCTTGAAAACTGCTGTAGCAAATTCATCTGTGGTGCAATACACTTTTTGATTAAAGCTCTTCAATCCAGATGCAACTACAATGGATTTTACTAGTTTGGTGTGTCAGTATTTCTTTGACTCATTAAATCTGGTATTTTGTGTCTCATATTTAACACTCCAAGGCCAA)$ MTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLL|gs* 05BR044 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 5 5 0 10 18 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream . GCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTC(TGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 05BR044 ENSG00000065243.20 ENSG00000173369.16(31940),ENSG00000133216.16(17262) +/+ ./- chr1:88684628 chr1:22693577 CDS/splice-site intergenic inversion 2 7 0 24 19 high out-of-frame . . . . ENSG00000065243.20 . ENST00000370521.8 . downstream downstream duplicates(3) ^(GCGGCCGCAGCGCCCGCACGGAGAGGCTTGAGGCGGCTCCTGGCGTCGCCCAGAGGGAGCGACTAGACGAACAGTCCGGTGAGGGCGGCGAGAGGAAGCCCGCTACGAGTGCCCTAGCTCCCCGCCGCTCTCGATGAACCGGACGGAATAAGCCGCGCCTCCAGCAGGGGCTGCGCCTCCATGAATCCCTAGTTGTTTTTTTTTTTTTCTTTCTCTCCC)CTCTCCTCACCCCCACCCCGAGCCCCGTCCCGCCTTCTCCCTTCGCCAGAGGCGGCCGCGTCCAGGTGCGGAGTCCATACCGGAGCGCAATGGCGTCCAACCCCGAACGGGGGGAGATTCTGCTCACGGAACTGCAG|ATGAAAAAACCAAGGCTCAAAGAGAAGACACTTGCCTAAGTCTACTCAGTAAAGATGTGATGGACTCAAGACCTCAGTGCAGGGCCATCTGAATTAAAACCTGATGATATGTAT___GCAATATCGAGATCTAACAGCCACGTAAGTAATTGACGTCACAGTTTAAGTATGTTACAGCTGGACCTACGTATATACAAATTTAAGA MASNPERGEILLTELQ|mkkprlkektla* 05BR044 ENSG00000148200.17 ENSG00000148082.10 -/- -/- chr9:124535878 chr9:89112626 CDS/splice-site CDS/splice-site deletion 2 4 0 10 12 high out-of-frame . Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%)|Phosphotyrosine_interaction_domain_(PTB/PID)(100%),SH2_domain(100%) . . ENSG00000148200.17 ENSG00000148082.10 ENST00000487099.7 ENST00000375835.9 upstream downstream duplicates(1) ^(AGTGCTGAGGGGGCGCGGCGCGGAGGGGCGCGGAGCGGCGCGGAGCCGGGCGGCTCGGGGCCCAGAGAGAGCCGCGGCCGGGAGCTCGCGGGCTCCTGACAACCTCCTCCCCTCGGCGGACGACGACCACGGCGACTAGGGCGCCGGTCATGGCGGAGCAACAAACCCGGCGCGGACCCTAGGCACCACCGCATGGAGCGGGACGAACCGCCGCCTAGCGGAGGGGGAGGCGGCGGGGGCTCGGCGGGGTTCCTGGAGCCTCCCGCCGCGCTCCCTCCGCCGCCGCGCAACG___GTTTCTGTCAGGATGAATTGGCAGAGCTTGACCCAGGCACTA___TTTCTGTTTCAGATGATCGGGCTGAACAACGAACCTGTCTCATTTGTGGGGACCGCGCTACAGGCTTGCACTATGGGATCATCTCCTGTGAGGGCTGCAAAGGGTTTTTCAAGCGGAGCATTTGCAACAAACGGGTATATCGATGCAGTCGTGACAAGAACTGTGTCATGTCTCGGAAGCAGAGGAACAGGTGCCAGTACTGCCGCCTGCTCAAATGCCTCCAGATGGGGATGAACCGGAAGG___CTATCAGAGAAGATGGCATGCCTGGAGGCCGGAATAAGAGCATTGGGCCAGTCCAG___ATATCGGAAGAAGAAATCGAAAGGATCATGTCTGGGCAGGAGTTTGAGGAAGAGGCCAATCACTGGAGCAACCATGGTGATAGTGACCACAGTTCCCCTGGGAACAGGGCTTCGGAGAGCAACCAGCCCTCACCAGGCTCCACACTGTCTTCCAG___TAGGTCTGTGGAACTGAATGGATTCATGGCCTTCAGGGAACAGTACATGGGAATGTCTGTGCCTCCACATTACCAATATATACCGCACCTTTTTAGCTATTCTGGCCACTCACCACTTCTGCCCCAACAAGCTCGCAGCCTGGATCCCCAGTCATACAGTCTGATTCACCAGCTGTTATCAGCCGAGGACCTGGAACCATTGGGCACGCCCATGTTGATTGAAGATGG___ATACGCTGTGACACAGGCAGAACTATTTGCCCTGCTTTGCCGCCTGGCCGACGAGCTGCTCTTTAGGCAGATTGCCTGGATCAAGAAACTGCCTTTCTTCTGCGAGCTCTCAATCAAGGATTACACGTGCCTCTTGAGCTCTACGTGGC)AGGAGCTAATCCTGCTGTCTTCCCTCACCGTTTACAGCAAGCAGATCTTTGGGGAACTGGCTGATGTCACTGCCAAGTACTCGCCCTCCGATGAAGAACTACACAG|TACTTGGGGTGCATTGAAGTTCTGCGCTCAATGAGGTCTCTTGACTTCAGTACAAGAACACAAATTACCAG(___GGAAGCCATCAGCCGCGTCTGTGAAGCTGTGCCTGGTGCGAAGGGAGCCTTCAAGAAGAGAAAG___CCTCCAAGCAAAATGCTGTCCAGCATCTTGGGAAAGAGCAACCTCCAGTTTGCGGGAATGAGCATCTCTCTGACCATCTCCACGGCCAGTCTGAACCTGCGAACTCCGGACTCCAAACAG___ATCATAGCGAATCACCACATGCGGTCCATCTCCTTCGCCTCTGGGGGAGACCCG___GACACAACTGACTATGTTGCATATGTGGCTAAGGACCCTGTTAATCGCAGAG___CTTGTCACATTTTGGAATGCTGTGATGGGCTGGCCCAGGATGTCATCGGCTCCATCGGACAAGCCTTTGAGCTCCGGTTTAAGCAATATTTACAGTGTCCTACCAAGATTCCCGCTCTCCATGATCG___AATGCAGAGTCTGGATGAGCCATGGACGGAAGAGGAGGGAGATGGCTCAGACCACCCATACTACAACAGCATCCCAAGCAAGATGCCTCCTCCAGGGGGCTTTCTTGATACTAGACTGAAACCCAGACCCCATGCTCCTGACACAGCCCAG___TTTGCAGGAAAAGAGCAGACTTATTACCAGGGAAGACACTTAGGAGACACTTTTGGCGAAGACTGGCAGCAAACACCTTTAAGGCAAG___GGTCCTCGGACATCTACAGCACGCCAGAAGGGAAACTGCACGTGGCCCCCACGGGAGAAGCACCCACCTACGTCAACACTCAGCAGATCCCACCACAGGCCTGGCCGGCTGCGGTCAGCAGTGCTGAGAGCAGCCCAAGGAAAGACCTCTTTGACATGA___AACCTTTTGAAGATGCTCTCAAGAACCAGCCCTTGGGGCCCGTGTTAAGCAAGGCAGCCTCCGTGGAGTGCATCAGCCCTGTGTCACCTAGAGCCCCAGATGCCAAGATGCTGGAGGAACTGCAAGCCGAGACTTGGTACCAAGGAGAGATGAGCAGGAAGGAGGCAGAGGGGCTGCTGGAGAAAGACGGAGACTTCCTGGTCAGGAAGAGCACCACCAACCCGGGCTCCTTTGTCCTCACGGGCATGCACAATGGCCAGGCCAAGCACCTGCTGCTCGTGGACCCAGAAGGCACG___ATCCGGACAAAGGACAGAGTCTTTGACAGTATCAGCCACCTCATCAACCACCACCTAGAAAGCAGCCTGCCCATTGTCTCTGCAGGGAGTGAGCTGTGTCTCCAGCAGCCAGTGGAGAGGAAGCAGTGACCTGGCCAGCACTGCTCCCAGCACTGCGCACCAGGTCAGGAGGACCTGGAGTGGACTAGAATCGGGGCTGCTGGAACTGGGACAGCTGCCTGTGGCTCAGAGCCTTCTTCAAAAGCTTCAAAAGGAAGGCTTCCTTTAAGGTCAAGTTTCATAAACTTGGTTCTGAATTTCTCATATGCATATTAAAGGTGTACATACCTATACATCCTGTACAAATTATCCCTCTATATTTATATTTTTTAAGACTAAGAAAGATGTAAGACTAATGTTCTGTGCTGTATGTTTTTAATGAAAAAAAAAAATAAGTTTAACTGTAGTTGTCCAGGCAAAAATTTAATTCAACTGACCCATCCCACCGGGAAATGCCACTAGGAAGGTGTAGCCTGCAGTTTTACCTAATAAGCACAACTGGAGGGGAATAGAAACACAGAATTGTGAGGGAATCGCAAGGCATGCTGCTCAGAGCATGCCTAGCCCTGCACTGAAAGCTATGAGATACTGGTTCTGAGGCATGGCTGTGCTTGCTGGTGGGAGCGGGCATCCTCCCTTGGCCTCCCTGGGACACCTCCTGTGCTCCCTGCACTGCACTCCACGTGCCTGGGGTGTCTACACAACTCGCTGCAGCTTCACTAAAGAACAGGTGGCACTCCAGCTTCTCCGGGTCCTGCTGAGCACAGGGCCCCGCCACCCTTGACCCCAGTTGTGCGAGGAGTACTTGGGAATTCATTTCATGCCAAAATGGCACAAAATAAGCTTCACCAACCAAGATTTTGATTGACAAGTGCTTCCCTGTTCTCATGTATCTAATGCTAAAATGGGTATTTGTAGAAGGGTGGTCGGGGCAAATTCCTGGTTTGTGTCTCCCTCTAGTCAGCGGTTGACTACAGGCTGCTTATGGTAATTGCTAGTAAAGTCCCCCGCCCGCCTTATACAATAGGGGAGAAGCCTGTGTGACAGCAAGAGCAGGCACCCATCCCAGAGCTCAGTCCCGAAGACTCAGGTATTGAGGCTTCTGGGGCTGCATGTGCCAGAAACCCAGGAGTCACTGGAATCCATTTGAGGTACTGCCTCTGGCATGAGGGATGGGGGAAAGGCCTGCTGTCCCAACAACAAGGTTTCTCCGTTGCTGCAGGGAAGAGCATGTGCCTGCCCCCACTCTTTGTCTTGACTCCCTTTCTTCCAGGTAAAATACTGTCATTTCCTGAGGAGTCATTTGGTGTTAGAAAGCTGGCAATGTTTATACCTTTCAAATACTATCTGGGCTGAGATTGCCCTGTGATTTTCACAGATGCCCTTTAAAGAATAGATGGATCCATTTGCTTGCTGGCAGCGTGGCTCTTGTTCTGGTGAGACCCCACAGGGTACAGCACCCTGTAGGGTATGGGTCAGCAGAACAGAAAGACACACTAAACACGCTTAGAGTTGGATAGTGATAAATCTGATCCTGTAAGGAGAGTTATGAGGAGACTGAAAAATCTGGCAGATAATAATACTGCTAAGTTCTAATGCCAATGGTATGAGCCCCATTTCTGCCTTGGGGTGTGCGTGTGGCCAGATGGAAGGACAGGTTAGAGCTAACCAGTGAGGATGAGTCAGGGCAGGCCCCAGCCTTCATACATGGCCTTCTAGGGAGTCTTTGCCTTTGAGGGTCCAGTGAATTTGAGATGACAGTGAAGTCAGTGTTCTAGAATGTTCTGCAGTGGATTGAAACTCTGGAGAGTCTGACACTACTGTAGACTGCACTGCTGTTTTCTGAAATGGTTTTGGCTTCAGGCATCATGTGGATACTCTGCTTAGTGATCCAGAAGCAGACGGCTCCACGGGGTTGCTGGCAGCAGCTGCATCAGGCTCCTGCCCCAAGACAGCATAGACTTGGGTGCTCTGAGAGCTGCCCTGCACATCTGTCCTCTGGGAGGCTGGGAGCCCTGGAGAGACACACACAGCTCTGACCCACCTGTGCATGAATGTGCACCACATAGAAAAATGTGCGAAATGACCTTCTTTCTACATTCATGCATTCCCCACTTGTGAAAGGTCAAAATGCTATTATAACATTCAGGGACAATAGCAAAGTAGGAAATGCAAGTTAGGAGCTGTGAATGCTGTAACATTTGATTTACTTTATTTTTCTCTTGGGGGGACTTGAATGGTAACCTGCAGCTTTAGTAGCTCTTGCTGTGAAGTCAGTGTCTAGTTCGATGGTGATAGAAAATATATATATTTTTTGCATGAGAATCAATTTAGAAAATTTAAAGTATTGGAGTCGAATTTTTTCTTTTTAATATTAATTCAAAATATACATTTTTAAGCTCAGATTATATATTGGTTACACTAGAATAGTGCCAGTGAAGTGAGCAGGCTTCAGACATAGCAGATGGCAGCGATTTTCTAATCTTTGTTCCCTCCCATTTGTAAAGTGGGTTAGAGCACACATTAGTTATCCCAACTCTTCCCTCCAGCACTGTGTGGTGGGCCATTCCTGTGAGCCTCACAGACACATGGGGAAAGTGAGGCTGGGGCTGGTGCCACACCTTCCTGGAGGCCATGTTGTCATCTGGCTGCAGAGCTCTTCTGCTCACTCAGCATTTCGTGAGCCCTGCTGTGTGCCAGCCTGTGCTTTGAGCTCAGGATTCCAAGGCAAAAGCAATGGAGGCTCCTCCCTGTCTAGCCTGGGCCCCTCTTCCCCACACTTTCTCAGGCCACATCTCTGCCTGGGCAGGGCAGGGAAGCTGAACAATGAACGCAGCGGGAATGGCATTAGGCCTTGCGTTCCAGGGCCTCAGGCTTCCAGGGCACAGTCGCTGCTGCTGTGCTGGGCCACCCTGGTCCTGCAGAGTGCACCTGGGCCCTGCTGTCCCTCCAATGGGCACCCCCAACACTTAACCCCAAACTCTATGTCTTCTGGGAGTACAAGGTGGGGGCCAGCAGTCCTAAAACGGCCCCTCTGCCCTTACCGAGTGGCCCTAGAGACCCCCACCCACCTCCCCTAACCCCACGAATGAATCAGCTGTGCTTCAAATGACATCTCTGTCCCACGGAGGCCGGCTGGGCCTCTCATGGGGGTGCTCATTGTGGTTTAAGTCAGCTTTGATTCTTGACCTCCAAGGCTGCCTCTGAGTAGCTAACCGGAGAATCGGGTGGGGAGGTGAAAAACACCGCAGTCAAATGACTCAATCTTTAATCCTGTGCTTAAGACACCACTGTTGCTGTTTTTTATATTTGAAGCACCCAAAGACTGGGCGTCCGCTCAGCCTTGATGAGCGAGCAGCTATTTTGTCAGGCCATCTATGATGTTGGGATAATGGACAAAGGCCTGATTGGGCCATATATGGCCTTCTTTAGGGCCTCCTGGAGGTGGAGGAAGTTGTGGGTAATTTCTAATAAAGACGGGAAATGACAAGCCGTGTGTGTAGGTAAAGTCCTAACTTAAAAGGAAGGACAGGCCTAGGGAAGGGTGGACCCTAAAGGGCCCATGTGCCAGGGGAACAGTGGACATGTGTGTCCAGCCCAACCTCCATGTCTGGTGCTGGGATTCTGAAGGTGGCCCCCAGCTCCCAAAATAAAGCTTTCCTTTTCAGTAGCGTCCGACACTTGGGTAGCTTCTTTCTATAAGCAATGCTTGAAGATGGACGTCTGGGTCCTCATTTCCTCCAAACTGGCTGCTACCTGAAGGCAGTCACACATTTCTTTTCTGTTGGGCTGAGCTGGGCAGAAGCCTCGGACTATAGGCCTTTCCAGGGCAGAGGCAATGCGGGCCACGAGTAGATACCTCCATCCAGCCTCCACCCTGGCACACCCAGAACGGCGTGGACTCAGGCGGGTTGCTGGATTTCTCTGAGCCTTGGCGTGCTCTACACTGCAGGGCTATACATGTTCCCAGCTTGAGGGCGTGCTGGGGATTGACAAATATATGAAACATATAAGCGCAATGATTTTCTAAAATTGTGCATTCCCAGCGTGCCCATTGGTTCTCTCTCGCTGGCCCAACTTTGTGTGCTGTCCATAAATCCCTTTCTGTGGACGGTGACAGTAGGATTGGGAGTGAGTGGGAAGATTGTGGAAAGATTGCAAAGAGGTCATTGCAGGACTCAGACAGACCTTGCAGTGGGTTTCAGAGTAATACTCAGGTTCTCCCATGGAACTTTCAAAGCTGGCTCTAAGAAAGATGAAGAGGACAAACCCACTCCTGGACATAGTGCCAACCTAGAACTGTCAGCTCCACACAGGATCACAGGGAAGGGAGCTTGGTAAGACAGCCCAGTAGGGGGCCCTGCTTTTCAGAAGAGGAAACTGGAGCCATGCAAGGGCCTGGGGATCAACTTAGAAAAGAGCACAGGACTCACAGTCCTGGGCCTGCACGTAAAGCTAGCCCCCTGCCCCACGGAAATGGCAAGCAGTGCTTCCCTCCAGGGGTTCTACATCTGTGCTCCATCTCAAAATGCATAAAAGCCTGAGTCATTCAGATGGGAGAGACAGTGTTTCTACTTCCTCTTAGTTGGGGTTCCTCCAGAAGGAGACCCTGAGAGAGGACTTGAGGTTATGTAGTTTATTTGAGTGAAGATCCCGGAAGTAGGGAGAGAAGGAAGCTGACGGGGAAGGCGTGCATTATCAAGTAAGTTACCGTCATGTGCACAACTGGAGCTGAATCCCACCGGGGAACCCCGAGAGACAGAGCTGACACCCCAGAGTTCACCCAGCAAGGCGGGGAGACAGCTGGGGTATTTATTCACCAAGTCTATCACTTATGAAAGGCTGTTTCTGGAAACAATTTCTGACTGGCCCTGCACACACCTGAGCATACTTCCTAAGCCGGGGATGTCCCTGAGCTGAGACAGGCGTTCGTGACAAGCAGACTTCGAGTGGAAGGCAGGCATCAGAACCACCCTGTGAGCTGGTTCAGACAAAGATTGCAGGCCCTTCCACCCCCCTGGCCCCGCCAAGTTCCTGACTCCCTAGGTCTGGAGTGGGGCCCGGGAATTTGCATTTCAAAAAATCTCGAGGTGATGCTGGTGCAGCTGCTCTGAAGTCTTGACTTTGAGAACCACTCACTAGTGAGAGTTTCCAGCCCTTACCTGTCTCTTATTGATGGCTTTCCCCCCTCTAATTTATAATTATGCTTTCACACCACTTCATGTCACAGATCCCAGGGTCCGTGCTGTGAATTTAAAAGTGGAGAATTAATAAGCATTTATAACTCCATGCAACCATTGCTGGCAGCTTAAATGCCATCTGCCAGCCATAATTTATTTATAATGGGGTTTATACATATTTATAAGTTTGCAAGCAACAAATGCACAGTTTTAAAACTGGCACATTTTATAGCAGCCAGAAAAATTGCAACTTTATACCAGGACTTGTGAATGTGAATTGCATATGTATATACATATACGCATATACTTACATTGATTAAAAACGGATCTGCATCTCTGTACACACGCAGATTGGCTCTGTGTTGTGCACCTTGGGACTCCTCCCTGGGCTTTGGTTTTACAGCTAAGTAGGAAGTCAAACAAACGTGAAGAATTTGGGAATTGGCAGGCTGTGGCATCAGCCATGGAGGATGGTCCTGGATGCTGTAGGATGTGAGATCCAGCACAAAGAGAACAAGAACAGGACATGAGGACCACAGGGATTGGGGGAACCCACTGTGGGAAATGACAGAGAAGCCAGTGGGGGAAGACAAAGAAAGAAGAAGGTGGAGGCAGAATAAAGGTGAGAAGAAGGGAAGGGGAGGATAAAACAAGTCCAGATTTAGATCTTCCTTCATGCAGCCATGCATAGCTGTCTGAGGCCAGCAGGGAAGGAGGAGAAAGGGAAGGTGTGGTGGAGGAGGCTGTGCTCGTGATGTCATGCTTTCGTGTATTCCCAGGTGCAGCTGCATATACTTGGCACAGTTTCTTGGGATTTCTAGCCAGTTTCTTGGCCTCATTTGTGCATTAGTTAATATGTGGCTGGCCCTGTACTGGGATGGTGGGATAGAGAAGTGAATGTATGAGGCCTCTGCCTGAGTTTATAACCTAGAAAGAAATAAAGACACACACACACAAAGGTGTTGGAGTGTGACAAGCCTTAAGGTACCCGTGTGTCCAAGTAAAGTAGAACCAGCAAGGGTGGAGTGCCCAGGTCAGTCTGGGGACTCTGGAGGCTTCGCACTGCAGGCGTCAGATACTGAGTGTTAGTGGCACGGAGAAGAGTGTGGAAGGCTCAGGATGGGGGTGGACAGCCTGGAGTTGTCACTCTCAGTAGAGATGCTAGAAGGGGCGGGAGGTGATCCCAGCCTCCCTTCTTTCCTCCTCCTGGCTGTCACAGATGCTCTGAATTGATGAATCCTTCAGGCCAAAAACACACAGGCTCCTTCCCTAGGTCTGGAAAAATGGTTCTCGCTGAAAAAGCACCAGGAATAAAATCTCATACAATTTTAGGTGTCTATTTTGTTGTCTCACCTTGAAATACTGCAGACAGAAAAACATGCACATGGGGAGCTGTGGTCCTGAGCTTTGAGGTAATGAATTCCCACTCATGTGATCATTTTTACCATAACCAAAGTTTCTAACCATCAAAATCAAGTGACAATTAAAACAGGCATTAATGGATAAATCCGTCTTTAAATATTAATGGGGTTAATTTTGTTAACAGCTATGTGTTGGTTGCAAGTGGAATGTTCTCTGTTCATTTGACTTTTGAATATAACTTGTTCCAGAATATTGTAAAATTAAGTATGTGAATGTTTCTTTGTATTCAGAATTAAACATTTGGTGTTAAAATCCCAGGATTAGGAGACAACTCCATGTAAATTTAATGTGTAATAATAAGATAATAACTTTTTAAAAAGCATTTGGATGGCAAATTATACATACTGACAAATGAATATTATCTGAAAGTTGTTTTGTTTCCATTAACTTTTGTGAAACAAAAAGAATTACTGTAACAGTCTATGTCTTGGCGTATTGCCAATTCACCACTTTCTACTTTGTGCTGGAACAGAACTGGCTTTTTTGACATCCCTGAGGAGTGGAAATGCAAAACGAATTTCAAGTTCTCTAATCTTTGTTCTATGACAAATGAAAAAACCTAAGTTATCTGGTGTTTTGGAGATTTGAGAATACAGCAGGTGAAGAGAATTAGCTTAAATTCCCTCCTCCCTTTTGATAAATCCACAGGGATTCCTTCACTCTGTCAGGAAATGGTGTGGTTTCCAAGCATTAGCCCTTCATGATCTGTCTGGTGCATTTCTGTGCTCCTGGGATCGCCAAGTGCAGGCACGGCATCGCATCCCCAGGTGTCATCCTGTGACCCAGGAGGGGAAGATGACACACCCAATTTAGGTAATGCTGCACTTCTTGTTATAATTGGTTATTGGAAAATGTGCCTTTATTATCAGAACAGTGGTGTGCGCATTTCTGATTATGGAGCTAACTTTTGGATATCTGACTTAGATACTAAAAACATTTGGGTGTTGCAGTTTTGCACTTGTAGATACAACTTAAAAGCATGAAACTGGTGATTTAATTAGATGTTTTCTATAAAATGCACCTTGTTACATTTCTGTGAAAGGGTCTTACCAGCGTGGAATAACTGGCTCAAGGGTTGAGAGAAACAACCATTTTCTAAACAGTTAATTGTTTAAAGGACTATACATGTAAGTCTGCAGGCAATAAAGGCTGTTGTGAAAAGTA)$ MERDEPPPSGGGGGGGSAGFLEPPAALPPPPRNGFCQDELAELDPGTISVSDDRAEQRTCLICGDRATGLHYGIISCEGCKGFFKRSICNKRVYRCSRDKNCVMSRKQRNRCQYCRLLKCLQMGMNRKAIREDGMPGGRNKSIGPVQISEEEIERIMSGQEFEEEANHWSNHGDSDHSSPGNRASESNQPSPGSTLSSSRSVELNGFMAFREQYMGMSVPPHYQYIPHLFSYSGHSPLLPQQARSLDPQSYSLIHQLLSAEDLEPLGTPMLIEDGYAVTQAELFALLCRLADELLFRQIAWIKKLPFFCELSIKDYTCLLSSTWQELILLSSLTVYSKQIFGELADVTAKYSPSDEELHs|twgalkfcaq* 05BR044 ENSG00000267248.3 ENSG00000261115.6 -/- +/- chr17:60132436 chr7:141246438 exon/splice-site intron translocation/5'-5' 3 1 1 11 10 high . . . . . ENSG00000267248.3 ENSG00000261115.6 ENST00000661390.1 . upstream downstream duplicates(1) ^(GGAAGCGGCAGAAAAGGCCGGCGTGTGGGGCGGGCCTGGGGAAGGGACTCCCGCGGCCCTAAGGTGCTGGCGGGCGTTTGGCGTTGCAGCTGTGTGGGCGCTGGTGCGTGCGAGTAGCGCTCGAAGAAACCCAAAGGCGTCGTGGGGCTGCCGTGTGCCCCAGAGAGCACTGCAGGCCGGGTAGGGGCTAAGGCTCCCCGCAGTCTTCTGTGTGTCGTCCAGTACGCAGTTGAAATCGTTCTCCAACCTGGCCAGTCCTCCGAGGCCCTTCTCAGGCGACCAGACTCTGTTAACAGAGTCCATTGCTAAAACTCCTCGTTAGTATTTACCACTCCTCCAGTCTGTGTTTTGAAGCAGTGGTTTTCAACCACTGCCCGTTTTCAGAAGAAATCATCTCAAGCGTCCGTGTGCTGCTAGAAGCCGGGCCGGGAGGTCTTGGTGCCGGACTCCACCCTGCAGCCCTTCCCTTTCGCCACCGCCCTGTGCTTAGAGAAACCTTAGAGTGGAGCAATGAGTCGCCCTTGACTGAGTAACTCTTCGGGGTCAACTTCTCCTTCCACGCCAAGGAAAGGATTCCAGGGCGATGTTTCTGGAAATAGAGATCTGACCAAGCCACTGCTCTG___GTCCCGTGTTTCTGAGAGTCTCTTTCAGAGCAAT)GCAAACCTGAAACTACTCCTGCCAAGAAACGATTGCAGCTCTTCCCGGAAAAGTTAAAGCCTTTGAGAAACAAAGCTGAG___GTTGAAAGTATTAGTCCATTTTATAGATGAAGAAATGGAGGCCCAGAGAGATCACGTGACTTAGCCAAGTCCACCAA|AGGATGGACGTTACTCCAAATACCCTTTCGTAGTCTCAGAAACATCGTACTGAACCTGATAAATACATGCTGAAATCATGAATGAAAAGATTTGCCACTTGCATCCACATGGGGAAATGGGTCATTACTCT___GTGGCTACAAGAAAAATGTTAAATCTGTGGCTTATGTTCTGTTTCTACCGGACAGTGCTCAAGTGACC . 05BR044 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 1 3 0 228 23 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTC)AGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG(___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 05BR044 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39617735 chr15:39071608 CDS/splice-site exon/splice-site deletion 1 1 0 256 23 medium out-of-frame . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream duplicates(1) ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGA)AGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG(___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ MDIIKGNLDGISKPASNSRIRPGSRSSNASLEVLSTEPGSFKVDTASNLNSGKEDHSESSNTENRRTSNDDKQESCSEKIKLAEEGSDEDLDLVQHQIISECSDEPKLKELDSQLQDAIQKMKKLDKILAKKQRREKEIKKQGLEMRIKLWEEIKSAKYSEAWQSKEEMENTKKFLSLTAVSEETVGPSHEEEDTFSSVFHTQIPPEEYEMQMQKLNKDFTCDVERNESLIKSGKKPFSNTEKIELRGKHNQDFIKRNIELAKESRNPVVMVDREKKRLVELLKDLDEKDSGLSSSEGDQSGWVVPVKGYELAVTQHQQLAEIDIKLQELSAASPTISSFSPRLENRNNQKPDRDGERNMEVTPGEKILRNTKEQRDLHNRLREIDEKLKMMKENVLESTSCLSEEQLKCLLDECILKQKSIIKLSSERKKEDIEDVTPVFPQLSRSIISKLLNESETKVQKTEVEDADMLESEECEASKGYYLTKALTGHNMSEALVTEAENMKCLQFSKDVIISDTKDYFMSKTLGIGRLKRPSFLDDPLYGISVSLSSEDQHLKLSSPENTIA|difcnqkhsknntfihglnnyirsyqpvtskspvsrnisnwlkalfwrce* 05BR044 ENSG00000196642.19 ENSG00000169692.13(23756),ENSG00000165716.11(1359) +/+ ./+ chr9:136839352 chr9:136711213 CDS intergenic duplication 38 10 2 392 42 medium out-of-frame . Ras_family(100%),Ras_of_Complex__Roc__domain_of_DAPkinase(100%)| . . ENSG00000196642.19 . ENST00000311502.12 . downstream upstream duplicates(7),low_entropy(1) ^(AGATGGCGGCGCTGACTCCTGGAGAGCGGTCGCGCCGGAGGCCGCGGGGGCCGGAGCGGAGCAGCCGCGGCTGAGGTTCCCGAGTCGCCGCTCGGGGCTGCGCTCCGCCGCCGGGACCCCGGCCTCTGGCCGCGCCGGCTCCGGCCTCCGGGGGGGCCGGGGCCGCCGGGACATGGTGCCAGTCGCACCCCTTCCCCGCCGCCGCTGAGCTCGCCGGCCGCGCCCGGGCTGGGACGTCCGAGCGGGAAGATGTTTTCCGCCCTGAAGAAGCTGGTGGGGTCGGACCAGGCCCCGGGCCGGGACAAGAACATCCCCGCCGGGCTGCAGTCCATGAACCAGGCGTTGCAGAGGCGCTTCGCCAAGGGGGTGCAGTACAACA___TGAAGATAGTGATCCGGGGAGACAGGAACACGGGCAAGACAGCGCTGTGGCACCGCCTGCAGGGCCGGCCGTTCGTGGAGGAGTACATCCCCACACAGGAGATCCAGGTCACCAGCATCCACTGGAGCTACAAGA___CCACGGATGACATCGTGAAGGTTGAAGTCTGGGATGTAGTAGACAAAG___GAAAATGCAAAAAGCGAGGCGACGGCTTAAAGATGGAGAACGACCCCCAGGAG___GCGGAGTCTGAAATGGCCCTGGATGCTGAGTTCCTGGACGTGTACAAGAACTGCAACGGGGTGGTCATGATGTTCGACATTACCAAGCAGTG___GACCTTCAATTACATTCTCCGGGAGCTTCCAAAAGTGCCCACCCACGTGCCAGTGTGCGTGCTGGGAAACTACCGGGACATGGGCGAGCACCGAGTCATCCTGCCGGACGACGTGCGTGACTTCATCGACAACCTGGACAG___ACCTCCAGGTTCCTCCTACTTCCGCTATGCTGAGTCTTCCATGAAGAACAGCTTCGGCCTAAAGTACCTTCATAAGTTCTTCAATATCCCATTTTTGCAGCTTCAG___AGGGAGACGCTGTTGCGGCAGCTGGAGACGAACCAGCTGGACATGGACGCCACGCTGGAGGAGCTGTCGGTGCAGCAGGAGACGGAGGACCAGAACTACGGCAT___CTTCCTGGAGATGATGGAGGCTCGCAGCCGTGGCCATGCGTCCCCACTGGCGGCCAACGGGCAGAGCCCATCCCCGGGCTCCCAGTCACCAGTGGTGCCTGCAGGCGCTGTGTCCACGGGGAGCTCCAGCCCCGGCACACCCCAGCCCGCCCCACAGCTGCCCCTCAATGCCGCCCCACCATCCTCTGTGCCCCCTGTACCACCCTCAGAGGCCCTGCCCCCACCTGCGTGCCCCTCAGCCCCCGCCCCACGGCGCAGCATCATCTCTAGGCTGTTTGGGACGTCACCTGCCACCGAGGCAGCCCCTCCACCTCCAG___AGCCAGTCCCGGCCGCAGAGGGCCCAGCAACGGTCCAGAGTGTGGAGGACTTTGTTCCTGACGACCGCCTGGACCGCAGCTTCCTGGAAGACACAACCCCCGCCAGGGACGAGAAGAAGGTGGGGGCCAAGGCTGCCCAGCAG)GACAGCGACAG___TGATGGGGAGGCCCTGGGCGGCAACCCGATGGTGGCAGGGTTCCAGGACGATGTGGACCTCGAAGACCAGCCACGTGGGAGTCCCCCGCTGCCTGCAGGCCCCGTCCCCAGTCAAGACATCACTCTTTCGAGTGAGGAGGAAGCAGAAGTGGCAGCTCCCACAAAAGGCCCTGCCCCAGCTCCCCAGCAGTGCTCAGAGCCAGAGACCAAGTG___GTCCTCCATACCAGCTTCGAAGCCACGGAGGGGGACAGCTCCCACGAGGACCGCAGCACCCCCCTGGCCAGGCGGTGTCTCTGTTCGCACAGGTCCGGAGAAGCGCAGCAGCACCAGGCCCCCTGCTGAGA|AAAGAAAAGAAAGAAACTGTTAAGAGAATGAAAAGAAAGCCACAGACTGGGAGAAAAATCTTTGCAAATCACATGTGTAATAATGGGCAGATATCCAGAAGATATAAAGAAGTCTCGGACCAGGCATGGTGACTCACGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCACTCCGGCCTGGGCAACATAGCAAGACTCCCTCaaAAAAAAAAAAAAAAAAAAAA MFSALKKLVGSDQAPGRDKNIPAGLQSMNQALQRRFAKGVQYNMKIVIRGDRNTGKTALWHRLQGRPFVEEYIPTQEIQVTSIHWSYKTTDDIVKVEVWDVVDKGKCKKRGDGLKMENDPQEAESEMALDAEFLDVYKNCNGVVMMFDITKQWTFNYILRELPKVPTHVPVCVLGNYRDMGEHRVILPDDVRDFIDNLDRPPGSSYFRYAESSMKNSFGLKYLHKFFNIPFLQLQRETLLRQLETNQLDMDATLEELSVQQETEDQNYGIFLEMMEARSRGHASPLAANGQSPSPGSQSPVVPAGAVSTGSSSPGTPQPAPQLPLNAAPPSSVPPVPPSEALPPPACPSAPAPRRSIISRLFGTSPATEAAPPPPEPVPAAEGPATVQSVEDFVPDDRLDRSFLEDTTPARDEKKVGAKAAQQDSDSDGEALGGNPMVAGFQDDVDLEDQPRGSPPLPAGPVPSQDITLSSEEEAEVAAPTKGPAPAPQQCSEPETKWSSIPASKPRRGTAPTRTAAPPWPGGVSVRTGPEKRSSTRPPAE|krkernc* 05BR044 ENSG00000181090.21 ENSG00000156052.11 +/+ -/- chr9:137619049 chr9:77922345 CDS/splice-site CDS/splice-site inversion 0 7 0 21 53 medium out-of-frame . |G-protein_alpha_subunit(100%) . . ENSG00000181090.21 ENSG00000156052.11 ENST00000460843.6 ENST00000286548.9 downstream downstream . ^GGGGCCACGCTGCGGGCCCGGGCCATGGCCGCCGCCGATGCCGAG|GGACAGGAGAGAGTGGCAAGAGTACGTTTATCAAGCAGATGAGAATCATCCATGGGTCAGGATACTCTGATGAAGATAAAAGGGGCTTCACCAAGCTGGTGTATCAGAACATCTTCACGGCCATGCAGGCCATGATCAGAGCCATGGACACACTCAAGATCCCATACAAGTATGAGCAC(AATAAG___GCTCATGCACAATTAGTTCGAGAAGTTGATGTGGAGAAGGTGTCTGCTTTTGAGAATCCATATGTAGATGCAATAAAGAGTTTATGGAATGATCCTGGAATCCAGGAATGCTATGATAGACGACGAGAATATCAATTATCTGACTCTACCAAATA___CTATCTTAATGACTTGGACCGCGTAGCTGACCCTGCCTACCTGCCTACGCAACAAGATGTGCTTAGAGTTCGAGTCCCCACCACAGGGATCATCGAATACCCCTTTGACTTACAAAGTGTCATTTTCAG___AATGGTCGATGTAGGGGGCCAAAGGTCAGAGAGAAGAAAATGGATACACTGCTTTGAAAATGTCACCTCTATCATGTTTCTAGTAGCGCTTAGTGAATATGATCAAGTTCTCGTGGAGTCAGACAATGAG___AACCGAATGGAGGAAAGCAAGGCTCTCTTTAGAACAATTATCACATACCCCTGGTTCCAGAACTCCTCGGTTATTCTGTTCTTAAACAAGAAAGATCTTCTAGAGGAGAAAATCATGTATTCCCATCTAGTCGACTACTTCCCAGAATATGATG___GACCCCAGAGAGATGCCCAGGCAGCCCGAGAATTCATTCTGAAGATGTTCGTGGACCTGAACCCAGACAGTGACAAAATTATCTACTCCCACTTCACGTGCGCCACAGACACCGAGAATATCCGCTTTGTCTTTGCTGCCGTCAAGGACACCATCCTCCAGTTGAACCTGAAGGAGTACAATCTGGTCTAATTGTGCCTCCTAGACACCCGCCCTGCCCTTCCCTGGTGGGCTATTGAAGATACACAAGAGGGACTGTATTTCTGTGGAAAACAATTTGCATAATACTAATTTATTGCCGTCCTGGACTCTGTGTGAGCGTGTCCACAGAGTTTGTAGTAAATATTATGATTTTATTTAAACTATTCAGAGGAAAAACAGAGGATGCTGAAGTACAGTCCCAGCACATTTCCTCTCTATCTTTTTTTTAGGCAAAACCTTGTGACTCAGTGTATTTTAAATTCTCAGTCATGCACTCACAAAGATAAGACTTGTTTCTTTCTGTCTCTCTCTCTTTTTCTTTTCTATGGAGCAAAACAAAGCTGATTTCCCTTTTTTCTTCCCCCGCTAATTCATACCTCCCTCCTGATGTTTTTCCCAGGTTACAATGGCCTTTATCCTAGTTCCATTCTTGGTCAAGTTTTTCTCTCAAATGATACAGTCAGGACACATCGTTCGATTTAAGCCATCATCAGCTTAATTTAAGTTTGTAGTTTTTGCTGAAGGATTATATGTATTAATACTTACGGTTTTAAATGTGTTGCTTTGGATACACACATAGTTTCTTTTTTAATAGAATATACTGTCTTGTCTCACTTTGGACTGGGACAGTGGATGCCCATCTAAAAGTTAAGTGTCATTTCTTTTAGATGTTTACCTTCAGCCATAGCTTGATTGCTCAGAGAAATATGCAGAAGGCAGGATCAAAGACACACAGGAGTCCTTTCTTTTGAAATGCCACGTGCCATTGTCTTTCCTCCCTTCTTTGCTTCTTTTTCTTACCCTCTCTTTCAATTGCAGATGCCAAAAAAGATGCCAACAGACACTACATTACCCTAATGGCTGCTACCCAGAACCTTTTTATAGGTTGTTCTTAATTTTTTTGTTGTTGTTGTTCAAGCTTTTCCTTTCTTTTTTTTCTTGGTGTTTGGGCCACGATTTTAAAATGACTTTTATTATGGGTATGTGTTGCCAAAGCTGGCTTTTTGTCAAATAAAATGAATACGAACTTAAAAAATAAAAGCTGGTATCTTAAAATGTAAGAGAGTAAGACTGTGAAGCCTAAAATGACTGGCTGAGAATGAACCAGAAATGCCATTTGCCAAACAGTTGTAACTAGAAATTTGATTCTCACGGTCCATTCTTTTCTTTGTCCTTAAGATGACATTGTTAGTGTTCACGTCCCATGTTCAGTGTCCAAACCGGCAATGTAAAAAGTATCCTGTGTGGTTTAACAGGAAATCTGTTTATGTCTCTTTATTTGAAACCAGTTTTACTCTCAGTGGTTCTTTAAGTTCAATGAAGTCTGCCAGGAACATTGGTTGGTAGTATTATTCCGACACCTTTAATTTCCAAAATCTGAAGTTCCTGCTAGTTTACCACCTTCATGATCTTCTTGAACTGGTAACTGATTAGGTTGAACTTATGGAAGATTTGTGGACTTAACTCAAAAGTAACCTCTCAGTGTTCTATAGAACATGTATTTGTGTAACTGAACCTACCAGGAGAAATGTTTGGAATTCTATATGTGCAATTTTTCAACAAATGCAAAAAAAATACAGCACATGTATTGACAAGCTTCTGTCAAGCAGCTTGAGTTGAAATTTGATTTAAGAAAATAAATCATGATTGTTCAAAGCTGCTGGGACGTTAGAATTAGGCCATGATACTGGTCTCATTTTAACTACAGTGGTATTTGGCACTAGTGTAAACTTCCATATAAATCACTCTTTTGGAACAACAAAGGGGGAGGGAGAAAAATCACGGCCTGTTAAATGAGTACCAAAGCCGCCCAACAGTAATGAGATGTTCTCATCCTTGATTCTCCCAGCCTCAAACAACACAGCTTACTTTTTTTTTCCCTTGCTCAGAAAGTACCTGTAATTTAACAAACAGACTGCCTGTAGGTATAGTGCAATTACAAATGCTCTAATCATTGTACATACATCTCTCTTGATATTGCAGCATCCATACTGGCTTTGTAATCATTAATTTTTTGGCAGATTGAATGTGCTGTATTGATATGTATCTATGTAATTGTATTGTATGTCTATAGCTAATTCACGTTTTGAATAATGTTATTTTATTTACTTTTTTAAGAGAGGAGAATGTAAATTTGTCAGTTTATTTCTGACTAGGGATATTTTCTTTCCATTTAGAAAAGAAGAAAAAAAAAAAACCTTACTGTCATACAGAGCGGTACTAGCGTCGTGCTGTATAAAATCATTTGCACATTCCTGAGTAGAGGTATACTGATTATAAGACCCAAAGGTAATTTCATAGCAAAATACATAAAATCAGTCGGAGCTTTTATACAAACATGGAAACCAACTTTGTAGAACTTTTGCCATTTGATCTAGGATTGGAATATGAGCTTTTATACAATTCATATTCTTATTTGGCAAATGCACAGTTTAGTATTACCTCTCTGATGGCCTTTACTAGAAAGGCAGTTTTAGAAGCTATTGTGATCCACTAAGGAAATGTTTTAACAGCTAGAGACCACTGCTTGCCTGAAAGGGCGTTCTTAAATTTGGTGCAGCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAACAACAACATTTGAAGGCCTACAGTGTGTATAGAGAAAACCTCATCACAAGATCATAAGTGTTACAGTTTTAGGGAATCAAGATATTCTATTTAATAGAGCTATAGTAAATGTAGTCAATTAAACCTGATCTCAAAGCTTGAAGAAGCTGAGCAAAACAGGGAAAGATTGTTATATTTGTCTTTATGAAATTGGGATGGAATTTGCTATGCAGAATTGAGGTTTGTGGCTTCGCTGTTCCTGTAGGGTGCATGACAAGATCCCTTCTCTTGAGAAAGGAAAAAATTGATCACCCTAGCAGCAGTGATGCATAGAAACCTAATTTTAGCCACACCAGTCAATCGAAGCTAAAGGATTTTCTTTTTTGTTTCTTCGGGGTTTTATTGAAGGGGCTAGGGGCGGGACGGGATTCTTTTCAGTTTTGTATAAAAACAAAGTTTACTCATGCTTTATATTATATTGTGATTGCAAGCGTTATAAGCGTGTGCCACTGGCCTCCTATTGTTGATGCTTAGGTAATGGAGGCCTGTGGTGAGTTTTATGGTGACTTGGGCATGTCTTATTCAAAAACAAAAACATAAAACACAGAAACCTTTCTTCAGCATACCAAGGCAAGCAGCCATTTCATGACTCACTTAACACATTGCAGTGTACCAGTTTACAGATGATTTTTCCCTTTTTGCGTGACATGGCAGTTCTAACCCCCAGAGAATTCCTTATTTGTAAATTGGAAGTTTCTACTATGCCTTACAGAGCTTAAATTCAGAAGTTTGTGCCTCATATCTGAAACAAAGGGAAATAACACACCCATTCAAAAGTAAATAAATCTCCTAGAAGTTTTTGTTTTTAACATTTCCATATAAAGAGCTCTGTTGAATGTCATGAATAGACTGGAAAAAAAAATTTTAAGAACCTGCATATGTTGTTTACTAGCAGATGACAACTACAAAAGGAATCTGAAGAACACGTAAAACTTGTATTTTTTTTTTTTTGGTAGATTAACTAGCAGGCCTATTTTAAAAAGGTAATTCAGCTAAAGGGCAATTTACTTTTTTGTACTTCAGACTATCTTGATTGTCAAAGTGTACGAACTGTAATTTTAAAATTTATACTGCCACATGATTGTAAATTTTAGTTGTCTTAAGTTAGGAATTGGTGAAAAGCTATTTATGCTGGATTTGGGTCAAAATGACTTATTTGCAAAAAAATAAATAATGGGAAGAAAGGGCTGTATAATGAAATACTGCAAGACTCACATATTGGTTGGAAATTTCCCTCAAATCACCTACCGATTACCCTTGATTTCCCTTTGTTTTCAGTTTCTCAAAACGAATGAAATGAAATATAGCAGAATGTTAACCCATATAAAAATAAAGTGTACCCAAATATTGTAATGTATATTGCTGCTCTTCTTCAAATTAAATAAGGGTTTAAAACCACTTAATTGGTAATCAACATCTCAATTGATACAAATAAGGTGTGCTTGGTATACATTAATATTTTCTTCCAAAGATATATCTTTGGTTAGAAACACAAAAAAATAAAACTAGTAATATTGTATGTTTATCTATCTCTACATATTTCCAGCATATGTAGCGTTAATAGATCTGTCCTGGTAACTGTGTCTTTGGGATTTCATTTTGGTTCCATCAAATTAGGAAAAGAAATGGCTTAGTTGTATATGATTAGCTAGAGATTTTTGGAGCCAGACACCTGCTGTTTAGTAGATAACTTAGTACAGACCCTAAACTTGTCATTTGTTTTTCTCACAGAATAGCCATTTCCTGCTGTCTTCCCAATGATCACTGCCCTTTCAATAACACTCTTGCCTCTAGAATCATATGTTCAAAGTATGAATACACACCTAGCACATAGTAGGTGCTCAAATATTAATTTCCTCCTTGCCTTCCTTATCTACCCTGTGTCCTCCATTTCCCCGTATGATTCCAACCCAATATAGCAAATGACATTTACATGTTATGAAAACATCTATTGGGTAAAATCAGATCTTGGATAAAGAAATTCTGACTTTTATATAAGCTTTTGGTAGACAGAAAAAACAGAAAGGTATTCGTTGGTAGAACATTTTTAAGTTCAGGAAAGAAAGCTGGAATAATACTACGTAACTTTGTCCAGGTTACTTTGACTGAAACACGTTTTTGGTGGATTTCTTTTCCTCAAAGAACTCTCTAAATGCAACTCCTTGCTGGATTCCTCACCCATCATCCTGTTGGAAACCCTTACTAGACCTATGTATTTAGGGAGTTTTGTCAGAAAACATTTTTAACTTGCAGTATTTAAAAGAATATTTACTGTTCCTAAAATGTCATTCAAATGCATGTACTGTCTATTGTTTGGGGATGGGAACTAGTTTTGCAAAAAACACCTAATGTTGTATAATAATGCCCCAATGATCTTGCTGGTTAAAAATACAGTATTTTTGGCCATAATTTTGTACTATAGTATTCTTCATTGTTGAGTTTTGCTTCCATTAAAGTTGCCCGAGCCCCTCTCAGAATGTTTTGTATTAGTAGGAGTACTGAAATACATCTTTCCTTCCTTAACACACCTTGTGCATATTGCATTTTCCAAAATAAACAAGTTTAATGGTTTCAAAAAAAAAAAAA)$ MAAADAE|gqervarvrlssr* 05BR044 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51877282 chr19:51855967 CDS/splice-site intergenic deletion/read-through 4 2 0 143 91 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___)GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAGACCATCAGCCTTCAACCACCACCCTTGTATCAGAGGAGA MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|dlhyrwktaasepq* 05BR044 ENSG00000156052.11 ENSG00000135052.16 -/- -/- chr9:77815616 chr9:86079341 CDS/splice-site 5'UTR/splice-site duplication 6 0 0 34 73 medium stop-codon . G-protein_alpha_subunit(100%)| . . ENSG00000156052.11 ENSG00000135052.16 ENST00000286548.9 ENST00000388711.7 upstream downstream duplicates(2) ^(GTTGCCGGGCGGGACGGGAACCGGGTCTGCGCGCGAGCCGGGCGGTGGGCGCGGACAGGGCCGAGGGCGCCCGGGAGCCGTGTCAGGCGGCGGCGAGGAGCGGGCGCGCCGGGCGCGGGGAGCCGTCGGCGGCCGCTCGCTGCGGGGACACCCCGGTGAATGAGCTCTCGCCGCCAGGCGCACGGCGTAGGGGAGCCTCGCAGGCGGCGGCGGCGGCGGCGGCTCGGGGGGCGAGGCGGGCCGCCTGTTCCCGGGGAAGGAGGCGCGGGCGTCTGAGCGAGGCCGGGCGCGGCGGCCTTCTCTCACGCGCCCCCCGAGCCAGCGCCCGCCTCCCGCGCCCGCCTCTCTTCTCCCGTCGGCCCAGACTATCCGCTCCCACCGCGCCCCCGGCCCACCTGGTGGCCCCGGCCCTGGCCGCCGCCCCCGCGGCGGTTCCCGGAGCTCGTCCCGGACGCGCGCCCGGGCGGCGGGGGCTCGGCGGCCACCGCTGCCTCGGGGGAGCGAGGGCGGGAGGGTGTGTGTGCGCGCTGTGAGCAGGGGGTGCCGGCGGGGCTGCAGCGGAGGCACTTTGGAAGAATGACTCTGGAGTCCATCATGGCGTGCTGCCTGAGCGAGGAGGCCAAGGAAGCCCGGCGGATCAACGACGAGATCGAGCGGCAGCTCCGCAGGGACAAGCGGGACGCCCGCCGGGAGCTCAAGCTGCTGCTGCTCG___GGACAGGAGAGAGTGGCAAGAGTACGTTTATCAAGCAGATGAGAATCATCCATGGGTCAGGATACTCTGATGAAGATAAAAGGGGCTTCACCAAGCTGGTGTATCAGAACATCTTCACGGCCATGCAGGCCATGATCAGAGCCATGGACACACTCAAGATCCCATACAA)GTATGAGCACAATAAG___GCTCATGCACAATTAGTTCGAGAAGTTGATGTGGAGAAGGTGTCTGCTTTTGAGAATCCATATGTAGATGCAATAAAGAGTTTATGGAATGATCCTGGAATCCAGGAATGCTATGATAGACGACGAGAATATCAATTATCTGACTCTACCAAATA|ATTCTCAGCGCTGATTTTGAGATGATGGGCTTGGGAAACGGGCGTCGCAGCATGAAGTCGCCGCCCCTCGTGCTGGCCGCCCTGGTGGCCTGCATCATCGTCTTGGG(CTTCAACTACTGGATTGCGAGCTCCCGGAGCGTGGACCTCCAG___ACACGGATCATGGAGCTGGAAGGCAGGGTCCGCAGGGCGGCTGCAGAGAGAGGCGCCGTGGAGCTGAAGAAGAACGAGTTCCAGGGAGAGCTGGAGAAGCAGCGGGAGCAGCTTGACAAAATCCAGTCCAGCCACAACTTCCAGCTGGAGAGCGTCAACAAGCTGTACCAGGACGAAAAG___GCGGTTTTGGTGAATAACATCACCACAGGTGAGAGGCTCATCCGAGTGCTGCAAG___ACCAGTTAAAGACCCTGCAGAGGAATTACGGCAGGCTGCAGCAGGATGTCCTCCAGTTTCAGAAGAACCAGACCAACCTGGAGAGGAAGTTCTCCTACGACCT___GAGCCAGTGCATCAATCAGATGAAGGAGGTGAAGGAACAGTGTGAGGAGCGAATAGAAGAGGTCACCAAAAAGGGGAATGAAGCTGTAGCTTCCAGAGACCTGAGTGAAAACAACGACCAGAGACAGCAG___CTCCAAGCCCTCAGTGAGCCTCAGCCCAGGCTGCAGGCAGCAGGCCTGCCACACACAGAGGTGCCACAAGGGAAGGGAAACGTGCTTGGTAACAGCAAGTCCCAGACACCAGCCCCCAGTTCCGAAGTGGTTTTGGATTCAAAGAGACAAGTTGAGAAAG___AGGAAACCAATGAGATCCAGGTGGTGAATGAGGAGCCTCAGAGGGACAGGCTGCCGCAGGAGCCAGGCCGGGAGCAGGTGGTGGAAGACAGACCTGTAGGTGGAAGAGGCTTCGGGGGAGCCGGAGAACTGGGCCAGACCCCACAGGTGCAGGCTGCCCTGTCAGTGAGCCAGGAAAATCCAGAGATGGAGGGCCCTGAGCGAGACCAGCTTGTCATCCCCGACGGACAGGAGGAGGAGCAGGAAGCTGCCGGGGAAG___GGAGAAACCAGCAGAAACTGAGAGGAGAAGATGACTACAACATGGATGAAAATGAAGCAGAATCTGAGACAGACAAGCAAGCAGCCCTGGCAGGGAATGACAGAAACATAGATG___TTTTTAATGTTGAAGATCAGAAAAGAGACACCATAAATTTACTTGATCAGCGTGAAAAGCGGAATCATACACTCTGAATTGAACTGGAATCACATATTTCACAACAGGGCCGAAGAGATGACTATAAAATGTTCATGAGGGACTGAATACTGAAAACTGTGAAATGTACTAAATAAAATGTACATCTGAAGATGATTATTGTGAAATTTTAGTATGCACTTTGTGTAGGAAAAAATGGAATGGTCTTTTAAACAGCTTTTGGGGGGTACTTTGGAAGTGTCTAATAAGGTGTCACAATTTTTGGTAGTAGGTATTTCGTGAGAAGTTCAACACCAAAACTGGAACATAGTTCTCCTTCAAGTGTTGGCGACAGCGGGGCTTCCTGATTCTGGAATATAACTTTGTGTAAATTAACAGCCACCTATAGAAGAGTCCATCTGCTGTGAAGGAGAGACAGAGAACTCTGGGTTCCGTCGTCCTGTCCACGTGCTGTACCAAGTGCTGGTGCCAGCCTGTTACCTGTTCTCACTGAAAAGTCTGGCTAATGCTCTTGTGTAGTCACTTCTGATTCTGACAATCAATCAATCAATGGCCTAGAGCACTGACTGTTAACACAAACGTCACTAGCAAAGTAGCAACAGCTTTAAGTCTAAATACAAAGCTGTTCTGTGTGAGAATTTTTTAAAAGGCTACTTGTATAATAACCCTTGTCATTTTTAATGTACAAAACGCTATTAAGTGGCTTAGAATTTGAACATTTGTGGTCTTTATTTACTTTGCTTCGTGTGTGGGCAAAGCAACATCTTCCCTAAATATATATTACCAAGAAAAGCAAGAAGCAGATTAGGTTTTTGACAAAACAAACAGGCCAAAAGGGGGCTGACCTGGAGCAGAGCATGGTGAGAGGCAAGGCATGAGAGGGCAAGTTTGTTGTGGACAGATCTGTGCCTACTTTATTACTGGAGTAAAAGAAAACAAAGTTCATTGATGTCGAAGGATATATACAGTGTTAGAAATTAGGACTGTTTAGAAAAACAGGAATACAATGGTTGTTTTTATCATAGTGTACACATTTAGCTTGTGGTAAATGACTCACAAAACTGATTTTAAAATCAAGTTAATGTGAATTTTGAAAATTACTACTTAATCCTAATTCACAATAACAATGGCATTAAGGTTTGACTTGAGTTGGTTCTTAGTATTATTTATGGTAAATAGGCTCTTACCACTTGCAAATAACTGGCCACATCATTAATGACTGACTTCCCAGTAAGGCTCTCTAAGGGGTAAGTAGGAGGATCCACAGGATTTGAGATGCTAAGGCCCCAGAGATCGTTTGATCCAACCCTCTTATTTTCAGAGGGGAAAATGGGGCCTAGAAGTTACAGAGCATCTAGCTGGTGCGCTGGCACCCCTGGCCTCACACAGACTCCCGAGTAGCTGGGACTACAGGCACACAGTCACTGAAGCAGGCCCTGTTTGCAATTCACGTTGCCACCTCCAACTTAAACATTCTTCATATGTGATGTCCTTAGTCACTAAGGTTAAACTTTCCCACCCAGAAAAGGCAACTTAGATAAAATCTTAGAGTACTTTCATACTCTTCTAAGTCCTCTTCCAGCCTCACTTTGAGTCCTCCTTGGGGTTGATAGGAATTTTCTCTTGCTTTCTCAATAAAGTCTCTATTCATCTCATGTTTAATTTGTACGCATAGAATTGCTGAGAAATAAAATGTTCTGTTCAACTT)$ . 05BR044 ENSG00000107077.18 ENSG00000284418.2(16081),ENSG00000283982.1(45910) +/+ ./+ chr9:6849700 chr9:23454781 CDS/splice-site intergenic deletion 5 0 0 50 5 medium out-of-frame . JmjC_domain__hydroxylase(100%),jmjN_domain(100%)| . . ENSG00000107077.18 . ENST00000381309.7 . downstream upstream duplicates(1) ^(CGGCGCCCAGGAGGACGTGTGGCGCGTGGACTACATCAGGTCCAGCCCTGCGGGACCCCAGCCAGCGCTTCCGGGCAAGGTTCTGTGCACCTGTTTTCTCCTTCTACGCGAGTATCTTTCCCCTCCGGAAAGAATGGGATATGCCTGTGTCCAAAGGACAAGAAGATGCGCGCCAGCAAGCCTAAGTTAACCACAGCGCGGAAGTTGAGCCCAAAGCAAGAGCGTGCCGGGCACCTTTAAGCTGTTTGTAAGCCCACGTGACTCACCAAGTGCGGGCCCCAGCGGTCACGTGACGGCGCGCGCGCCCTCGCGCAGGGAGAGCCGGCGGTGCGCGCGCCTTCGCCGCTGCCTCCCACCCACCCCCTCGACGGGAGGGTGAGGCGCGGCGCAGTGATCGGGCGGCCGGGGTCCTGTGCGCGTGCGCAGCGAACAGCTGTCACCTAGTGCGGAACAAGTCTCCCAAATTTCCCAAATCTCCCTGGGCCGGAGGCCACTGTCTTCTCTTCCTCCTCCACCGAGTCGTGCTCTCGCCCCAACCCGCGCGCCAG___ACACTGCCCTAACCATCATGGAGGTGGCCGAGGTGGAAAGTCCTCTGAACCCCAGCTGTAAGATAATGACCTTCAGACCCTCCATGGAGGAGTTCCGGGAGTTCAACAAATACCTTGCATACATGGAGTCTAAAGGAGCCCATCGTGCGGGTCTTGCAAAG___GTGATTCCTCCTAAGGAGTGGAAGCCAAGACAGTGCTATGATGACATTGATAATTTGCTCATTCCAGCACCAATTCAGCAGATGGTCACAGGGCAGTCAGGACTGTTCACTCAGTACAACATCCAGAAAAAAGCGATGACTGTGAAGGAGTTCAGGCAGCTGGCCAACAGTGGCAA___ATATTGTACTCCAAGATACTTGGATTACGAAGATTTGGAGCGCAAGTACTGGAAGAACTTAACTTTTGTGGCACCTATCTATGGTGCAGATATTAATGGGAGCATATAT)GATGAG___GGTGTGGATGAATGGAACATAGCTCGCCTCAATACAGTCTTGGATGTGGTTGAAGAAGAGTGTGGCATTTCTATTGAGGGTGTAAATACCCCATATCTCTATTTTGGCATGTGGAAGACCACGTTTGCATGGCACACCGAAGACATGGACCTCTATAGCATTAATTATCTCCACTTTGGAGAGCCCAAGTCTTG|CAACAACGTGAAAAGTCCACTGAATAATGAAGAAGAATGACACACTGGTTACAAGATGCTACTGAAAAATATGCC MEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHRAGLAKVIPPKEWKPRQCYDDIDNLLIPAPIQQMVTGQSGLFTQYNIQKKAMTVKEFRQLANSGKYCTPRYLDYEDLERKYWKNLTFVAPIYGADINGSIYDEGVDEWNIARLNTVLDVVEEECGISIEGVNTPYLYFGMWKTTFAWHTEDMDLYSINYLHFGEPKSc|nnvksplnneee* 05BR044 ENSG00000109452.12 ENSG00000219622.1(4575),ENSG00000232891.1(85959) -/- ./- chr4:142305458 chr6:150514875 CDS/splice-site intergenic translocation 2 0 0 62 2 medium out-of-frame . . . . ENSG00000109452.12 . ENST00000513000.5 . upstream downstream . ^(CACACGCTCGCAAGCGAACGCAGGAAAGTCAGGCTAAAAGTGTCTGCTGCTGCTGCCGCCCCCCACTCCGCCTCCGGGAGAG___AATACAAAGAAATGGTGTTACCTGGCAAGAGGTCTTCTGTCTTTTATGAAAAATTAGACAAAG___GCTTTACAGGAGGCATAGTACTGGAAATCTGCTCCTGATGAGGTCTCAGAAAGCTTCCACTCGTGGTGGAAGGCAAAGGAGGAGCAGGCACATCACATG___AGCCTTGAAACCAGCGAAACAATAATCAAAGAGCAGTTCTGTCAAAGAAAACAACATAAATCAG___GTACAGAATTTCAGAGTGGGATATCAGATCTTTAGTGTGAAGATACATCTACATTAAACCAGGAATCACTAGAACTGACATTTGGACAAGAAAATTTGGAAAATTTTAAAACTGTGAAGGTTGATCATGGAAATTAAAGAGGAAGGGGCATCAGAAGAAGGGCAGCACTTTCTTCCTACAGCCCAGGCCAATGATCCCGGGGACTGTCAGTTCACAA___GTATCCAGAAGACTCCAAATGAACCGCAGTTGGAATTCATCCTTG___CATGCAAGGATCTCGTGGCTCCTGTCCGTGATCGTAAACTGAATACACTGGTGCAGATCTCCGTAATCCACCCCGTGGAGCAGAGTCTGACAAGATACTCCAGCACCGAAATTGTGGAG___GGAACAAGGGACCCACTGTTTTTGACTGGTGTCACATTCCCATCTGAGTATCCCATCTATGAGGAGA)CCAAAATAAAACTAACAGTCTATGATGTCAAGGATAAGTCTCATGAtACC___GTTCGAACCAGTGTCCTACCAGAACATAAGGATCCCCCGCCAGAAGTTGGG___CGAAGTTTCTTGGGCTATGCCAGTTTTAAAGTGGGAGAGCTGCTGAAGTCAAAGGAGCAATTGCTGGTCCTGAGCCTGAG|CAGCTGAACCACCCTACACCAAGGAGACATTGAAGAGTTTTTAATGACATGACCAGA MEIKEEGASEEGQHFLPTAQANDPGDCQFTSIQKTPNEPQLEFILACKDLVAPVRDRKLNTLVQISVIHPVEQSLTRYSSTEIVEGTRDPLFLTGVTFPSEYPIYEETKIKLTVYDVKDKSHDTVRTSVLPEHKDPPPEVGRSFLGYASFKVGELLKSKEQLLVLSLs|s* 05BR044 ENSG00000258710.8 ENSG00000280709.2 +/+ +/+ chr15:20942560 chr15:21595606 exon/splice-site 5'UTR/splice-site deletion 0 1 1 154 51 medium . . . . . ENSG00000258710.8 ENSG00000280709.2 ENST00000553416.5 ENST00000628444.1 downstream upstream multimappers(2) ^(GTTGCAGGCTATCGTGTGTTAACCTGTACTTCTGCCGCAGAGTTTGGAGAAAGCGGCAGCAGATTGTGCTGCCGCAGGCTGGAGCCTGGAACCTGGAGCCCTGGAGCCTTGAATGGTGTGTGGTGGCAATGGAGAGAGGCAGCTGGCAGTGACAGCTGCTCCGTGCTTGGCTACAGGAAGGAAAGAAGGAGAAAGCACCTACCATAGGCTGGAGGCTAGAGCCTGCAGGACTGCGGCTGGCCTCGCTGGCTCGCCTCCCTGGCTGGCCTCGCTGTGGTTGGTGGCAGCGACGGATACTGCAGCTGGCCAGAGTGTAGAAAGGCAATGGG___GAGCGCAGTCCTGGTGGGCCCAGCGGTTCCTGTGGATTGGAGCCAGGCAGTGTGATGTTACCAGTCACCACTCCAGGT)CCCAGTTCCTGGCCCGCTTGAGCCAAAAGGAGAGGCTGGACTTTGGAGGGTGGATATGAGTGCCTTCACTGAGACTGGCCCCTGCCACCCAGTGGCCAGGATGACAAG|TCCTGAAGATTTTCCTCAGATAATCTTTCATCTCTTTGTTCCTGAGACTATATATTAGAGGATTACAGAGTGGTGTTATCACAGAATAGAACAAG . 05BR044 ENSG00000258710.8 ENSG00000280709.2 +/+ +/+ chr15:20942560 chr15:21651926 exon/splice-site 5'UTR/splice-site deletion 1 1 0 154 38 medium . . . . . ENSG00000258710.8 ENSG00000280709.2 ENST00000553416.5 ENST00000628444.1 downstream upstream . ^(GTTGCAGGCTATCGTGTGTTAACCTGTACTTCTGCCGCAGAGTTTGGAGAAAGCGGCAGCAGATTGTGCTGCCGCAGGCTGGAGCCTGGAACCTGGAGCCCTGGAGCCTTGAATGGTGTGTGGTGGCAATGGAGAGAGGCAGCTGGCAGTGACAGCTGCTCCGTGCTTGGCTACAGGAAGGAAAGAAGGAGAAAGCACCTACCATAGGCTGGAGGCTAGAGCCTGCAGGACTGCGGCTGGCCTCGCTGGCTCGCCTCCCTGGCTGGCCTCGCTGTGGTTGGTGGCAGCGACGGATACTGCAGCTGGCCA)GAGTGTAGAAAGGCAATGGGGTAG___GAGCGCAGTCCTGGTGGGCCCAGCGGTTCCTGTGGATTGGAGCCAGGCAGTGTGATGTTACCAGTCACCACTCCAGGTCCCAGTTCCTGGCCCGCTTGAGCCAAAAGGAGAGGCTGGACTTTGGAGGGTGGATATGAGTGCCTTCACTGAGACTGGCCCCTGCCACCCAGTGGCCAGGATGACAAG|GCAGAAGAAATGAAGATAGCAAACAACACAGTAGTGACAGAATTTATCCTCCTTGGTCTGACTCAGTCTCAAGATATTCAG(CTCTTGGTCTTTGTGCTGATCTTAATTTTCTACCTTATCATCCTCCCTGGAAATTTTCTCATTATTTTCACCATAAGGTCAGACCCTGGGCTCACAGCCCCCCTCTATTTATTTCTGGGCAACTTGGCCTTCCTGGATGCATCCTACTCCTTCATTGTGGCTCCCAGGATGTTGGTGGACTTCCTCTCTGAGAAGAAGGTAATCTCCTACAGAGGCTGCATCACTCAGCTCTTTTTCTTGCACTTCCTTGGAGGAGGGGAGGGATTACTCCTTGTTGTGATGGCCTTTGACCGCTACATCGCCATCTGCCGGCCTCTGCACTGTTCAACTGTCATGAACCCTAGAGCCTGCTATGCAATGATGTTGGCTCTGTGGCTTGGGGGTTTTGTCCACTCCATTATCCAGGTGGTCCTCATCCTCCGCTTGCCTTTTTGTGGCCCAAACCAGCTGGACAACTTCTTCTGTGATGTCCGACAGGTCATCAAGCTGGCTTGCACCGACATGTTTGTGGTGGAGCTTCTGATGGTCTTCAACAGTGGCCTGATGACACTCCTGTGCTTTCTGGGGCTTCTGGCTTCCTATGCAGTCATCCTCTGCCATGTTCGTAGGGCAGCTTCTGAAGGGAAGAACAAGGCCATGTCCACATGCACCACTCGTGTCATTATTATACTTCTTATGTTTGGACCTGCTATCTTCATCTACATATGCCCTTTCAGGGCCTTACCAGCTGACAAGATGGTTTCTCTCTTTCACACAGTGATCTTTCCATTGATGAATCCTATGATTTATACCCTTCGCAACCAGGAAGTGAAAACTTCCATGAAGAGGTTATTGAGTCGACATGTAGTCTGTCAAGTGGATTTTATAATAAGAAACTGAGAAGGAGGAATTCTGGCTGGAATTCATATCATTCATTTAACAAGTCCTGTTTTTCACTGGTACCTCCCATTTGCCAGGTACCATTGTAGGCAATGGAGGAGAGTTATGCATAATGAGAGAATAAACTTATTATATTTAAAGAATATAAAGGAAACCCCAGAGTGGTTGAAGTATAATGAGTAAGTGTGAGAAATTTAAGGGTTAAGTTTTATGTGACTGCAAGGGTCTTTCGGTCTGAGGTAAGAATTTTTTCATATTTTAATTGTGGTAAGAACCCATTTTAATGTTTTAAGCAAAGGAGCAGTTCATCTACAATGCTTTCCTCTACTGGTTAGAGCAACATCAGCAAGATTTTAGGCAGAGATTAATAAACTGTAAAATATCAAAAACC)$ . 05BR045 ENSG00000186376.15 ENSG00000181433.9(4660),ENSG00000230162.1(24757) -/- ./- chrX:135341768 chrX:135917721 5'UTR/splice-site intergenic duplication 40 46 1 98 91 high . . . . . ENSG00000186376.15 . ENST00000370766.8 . upstream downstream duplicates(18),inconsistently_clipped(2) ^(AGACCTGATCCAATGGCCGCTTGATACAATGGTGTCGTTCGGGAAACGCAGCCCTAACGTTGGTCCTAAGCTGACAAATTGGTCTGTGGACGCCAAACTTCCGTGCTAGGACTTTCTGCGTGTGGACCGGGGGCCTAGTCCTGCGTGGGTCCAACACAGACAGGAGAAAGCTGCCTGCTTTTGTGCCTCCCGGAGGTCCTGGTAGAAGCGAAACGGGGACAGGAGCTGCAGCGTCCCAAGCCCAGTGAGGCGAAGCTACTGGAGACAGCTCTGCCGGGTCCAAAGTTGGGCTCACCGGCTGGAACTTGAAACCGGAGCACGCCGGACTCCTGCTGAAGCCATCATCTCTCTCTCCTGGCCCCGGGCGCCTTGGCCGGCGGGCACAACTGGTTTCGGGGCCAAGGTGGTCTGGAAGCCTGACTGTGGCGTCTGGCCTGGGCTCCCGCGAGCGGAAAAGGTTCCCCTCCTGTGAGAGGGAAACTATGGAAGTTCCTACGCCCGGAGCCAGAACTCCTGCTGCTCCCGCCCGACCCAAGGTCTAGCTTGGCGGCCTCCCACCTGTGCTTCTGAGGGTTCTGCTTCCAAGAGGCTGCTGGTGCCCGGGACACCAGCAGTTTCGCCATGGGTGTTTCGCCATGGGAGTTTCGCCATGGGTGACTTTGGCCTGAGATGCGCTCCATGGAGCAGATTCTGGAGTTGCTGGTGTTGGAGGAGTTCCTGACTATCCTGTCCCA)GGACATCCACAGCAGGGTGCAGAAGCTGCAACGGGCGAGCTGTGAAGAAGCTGTAACTCTTTTAAAGTATATGTATGACTTTTAAAAGAGAGAGCTTGTGAAACTGAGGGAATAG___TTATTGAGAAAAAAAGCATTTTCAAGGTCAAGAGGTACATACTAGGTTCCAGGGGATATGTTAATTTGCTCAAGAAATGAAACCACATCTGGAACAGCAGCTGCAATTGGAGTCATCACCTGGCTTAGTTTACAATGACCCACTACCATCTTCCAAGATCCATCTGCCTTCTGCATAGGCCAAACAG|CCTGCCCTGCTCCCGGTCCCACGCCTATAAAGATTCCAGATTCAGCCAGTAGAGACGAGAAGTAGCTGGACATCAGGGAGAGGTGACTTGACTTCAGAGATGATGGCTGCACGTCCGGGAGAAGCAACTTGACTTCGGAGGAGAGAGGCAGAGAGGCGACTTGACTTCAGGGGAGAGCtACCTGCCCTTCCCATACGCTTTCCAGC . 05BR045 ENSG00000152207.7 ENSG00000139687.15 +/+ +/+ chr13:48654017 chr13:48477355 5'UTR/splice-site CDS/splice-site duplication 4 49 0 24 155 high . . |Rb_C-terminal_domain(100%) . . ENSG00000152207.7 ENSG00000139687.15 ENST00000614739.4 ENST00000267163.5 downstream upstream duplicates(15) ^(AATGACAAAAAACCAGTCATTAGAGGGGCAGGGCAATTTTAGGTTTCTTCTTTTTAGACATAGCCCCTAACTGGAAATTTTCACCCTTCTTGAGAAGGGAGCTTGCACTAACATCTACAATGG)CTTCTAAAAAGCACAGATGACCTGCTACACTTCCTGACTTGCTTGCTATTGGTTGGCACTGTTCATAAATATAATTTGCTCTTTCACTTTTCTTTGAAATGAGCAACCTGAATTACTCGGAGGAGAAAGGCAGGAGAGATAGAGGCAGCAGAAGCCAGGGCAGCTGAAAGACAGAGACCTTCAG|TAAACATCTCCCAGGAGAGTCCAAATTTCAGCAGAAACTGGCAGAAATGA___CTTCTACTCGAACACGAATGCAAAAGCAGAAAATGAATGATAGCATGGATACCTCAAACAAGGAAGAGAAATGAGGATCTCAGGACCTTGGTGGACACTGTGTACACCTCTGGATTCATTGTCTCTCACAGATGTGACTGTATAACTTTCCCAGGTTCTGTTTATGGCCACATTTAATATCTTCAGCTCTTTTTGTGGATATAAAATGTGCAGATGCAATTGTTTGGGTGATTCCTAAGCCACTTGAAATGTTAG(TCATTGTTATTTATACAAGATTGAAAATCTTGTGTAAATCCTGCCATTTAAAAAGTTGTAGCAGATTGTTTCCTCTTCCAAAGTAAAATTGCTGTGCTTTATGGATAGTAAGAATGGCCCTAGAGTGGGAGTCCTGATAACCCAGGCCTGTCTGACTACTTTGCCTTCTTTTGTAGCATATAGGTGATGTTTGCTCTTGTTTTTATTAATTTATATGTATATTTTTTTAATTTAACATGAACACCCTTAGAAAATGTGTCCTATCTATCTTCCAAATGCAATTTGATTGACTGCCCATTCACCAAAATTATCCTGAACTCTTCTGCAAAAATGGATATTATTAGAAATTAGAAAAAAATTACTAATTTTACACATTAGATTTTATTTTACTATTGGAATCTGATATACTGTGTGCTTGTTTTATAAAATTTTGCTTTTAATTAAATAAAAGCTGGAAGCAAAGTATAACCATATGATACTATCATACTACTGAAACAGATTTCATACCTCAGAATGTAAAAGAACTTACTGATTATTTTCTTCATCCAACTTATGTTTTTAAATGAGGATTATTGATAGTACTCTTGGTTTTTATACCATTCAGATCACTGAATTTATAAAGTACCCATCTAGTACTTGAAAAAGTAAAGTGTTCTGCCAGATCTTAGGTATAGAGGACCCTAACACAGTATATCCCAAGTGCACTTTCTAATGTTTCTGGGTCCTGAAGAATTAAGATACAAATTAATTTTACTCCATAAACAGACTGTTAATTATAGGAGCCTTAATTTTTTTTTCATAGAGATTTGTCTAATTGCATCTCAAAATTATTCTGCCCTCCTTAATTTGGGAAGGTTTGTGTTTTCTCTGGAATGGTACATGTCTTCCATGTATCTTTTGAACTGGCAATTGTCTATTTATCTTTTATTTTTTTAAGTCAGTATGGTCTAACACTGGCATGTTCAAAGCCACATTATTTCTAGTCCAAAATTACAAGTAATCAAGGGTCATTATGGGTTAGGCATTAATGTTTCTATCTGATTTTGTGCAAAAGCTTCAAATTAAAACAGCTGCATTAGAAAAAGAGGCGCTTCTCCCCTCCCCTACACCTAAAGGTGTATTTAAACTATCTTGTGTGATTAACTTATTTAGAGATGCTGTAACTTAAAATAGGGGATATTTAAGGTAGCTTCAGCTAGCTTTTAGGAAAATCACTTTGTCTAACTCAGAATTATTTTTAAAAAGAAATCTGGTCTTGTTAGAAAACAAAATTTTATTTTGTGCTCATTTAAGTTTCAAACTTACTATTTTGACAGTTATTTTGATAACAATGACACTAGAAAACTTGACTCCATTTCATCATTGTTTCTGCATGAATATCATACAAATCAGTTAGTTTTTAGGTCAAGGGCTTACTATTTCTGGGTCTTTTGCTACTAAGTTCACATTAGAATTAGTGCCAGAATTTTAGGAACTTCAGAGATCGTGTATTGAGATTTCTTAAATAATGCTTCAGATATTATTGCTTTATTGCTTTTTTGTATTGGTTAAAACTGTACATTTAAAATTGCTATGTTACTATTTTCTACAATTAATAGTTTGTCTATTTTAAAATAAATTAGTTGTTAAGAGTCTTAA)$ . 05BR045 ENSG00000167487.12 ENSG00000105696.9 +/+ +/- chr19:18637137 chr19:18615302 CDS/splice-site intron inversion/3'-3' 16 26 0 31 52 high out-of-frame . . . . ENSG00000167487.12 ENSG00000105696.9 ENST00000595182.5 . downstream downstream duplicates(5),mismatches(1) ^GTCACTCGAACGCGCGACGGCGGGGGGAAGATGGCGGAGTCCGGCGGTAGCAGCGGTGGTGCTGGTGGCGGCGGCGCTTTCGGCGCGGGCCCGGGCCCCGAGCGCCCGAACAG|CGTCAAGACGGAGGTCTGATGGCCGGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGACGTGGGAAGATCACTTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGATGAAACCCTGTCTCTCCTAAAAATACAAAAATTAGCCGATTGTAGTGGGGGGTGCCTGTAATCTCACCTACAAAGGAGGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGGCTgGGCAACAGAGCA MAESGGSSGGAGGGGAFGAGPGPERPNs|vktev* 05BR045 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 19 19 1 50 52 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(7) GGGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAG(GACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 05BR045 ENSG00000166224.17 ENSG00000180644.8 +/+ -/+ chr10:70816880 chr10:70598888 CDS/splice-site CDS duplication/5'-5' 9 27 1 43 92 high out-of-frame . . . . ENSG00000166224.17 ENSG00000180644.8 ENST00000373202.8 . downstream upstream duplicates(6),mismatches(2) ^(ATTTCCGGGAGGGGCGAGGCCGGCGGCTGCCGGGC)CTCCAATCTCGGCGGCGGCGGCGGCAACAGGGGAGCCTGGGTCTCGCGGCCTGCGAGTCCGTCGCGTGCTGAGGGAGACGCAGGAGGTGGAGCCGGCCGGGTGCTCGAGGGAAGGAGACTGGAAGCTGGTTCCGGCGTGAGGAG___AGTCTGAAAAAGGGGAGCGCGGAGAGGAGGCTGGAAGAGGAAGATGCCTAGCACAGACCTTCTGATGTTG|GCCTTGGCTTCaGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAG___CAATGATCCTGGCC...___GCTAAATGACACTCTTACCA MPSTDLLML|alasaemlpwmpmltwastvrqsstslsvspsrassqvrravradmrppsstarmkwvp* 05BR045 ENSG00000173575.22 ENSG00000258647.6 +/+ -/+ chr15:92929091 chr15:92570231 CDS/splice-site exon duplication/5'-5' 16 11 1 42 53 high out-of-frame . . . . ENSG00000173575.22 ENSG00000258647.6 ENST00000394196.9 . downstream upstream duplicates(3) ^(AGAGCTGGGAAGGAGGCTCTAGATGGCGGCTGTGCCTTAGAGAGAGCGCGCTCTGCTCCCTGCCTTTGCCTCACTTTACGCAACTTTCCCTAACTTTCGGGCAGCCTCAGGGGGCCCCCGTAGCCCCCTGCCTTTCCTAGGGACTTACTGGGGTCGATTCGAACCTTTTTTTGGGAGAAAAGCAGCTTTTAGGAGCTTTCTTTTCGTGCCTTGTTGGAAAGAAGCAGCCGTACTGAGAGCCCAGGTCGTTGTTTTTTCCAGCTTAGAAGCCATGGCGCACCTCCATTTTTGTGCGCTCTCCTAATGAGGTTTTTTTTCTTTCGGACCTGTTTTAGTATTAATTATTGCTTTATTTTTTTGACCAGTTAACATATTTGAGGGTTATTTTATTTATTTTTCGTTTTTTAACGGAGGATTTTGCCTTTATTTTTAATTATTTGGGATCTGATATTTTTCTACTAGTAGATAGGACTCTTGGTTTGGACATACTACATGGATCAG___TAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCCTTAATATTTAAGAATTAAAAGATGATGAGAAATAAGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAATGCATCGAG___TCACTCAGCCTCTGAAGAAGCTTCGGGTTCAGACTCAGGCAGTCAGTCGGAAAGTGAGCAGGGAAGTGATCCAGGAAGTGGACATGGCAGCGAGTCGAACAGCAGC)TCTGAATCTTCTGAGAGTCAGTCGGAATCTGAGAGCGAATCAGCAGGTTCCAAATCCCAGCCAGTCCTCCCAGAAGCCAAAGAGAAGCCAGCCTCTAAGAAGGAACGGATAGCTGATGTGAAGAAG___ATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAG___GCAAGTAGCGGGTCTGAGAGTGGGAGCCCAAAAAGAAGAGGCCAGAGGCAGCTGAAAAAACA|GTTCTCTTATTCCATTCTGTACATGTCAGAAGCCGTCAGGAGCCTCAAGAGAAGAAGAAAGAGCCATG___ATCCTGAGGAATTGCCATTAGGACCTGGAAACAAATATGTTGCGTGGAAGACTTACTGACAAAGGAACTTTTACTGAAGTCCTCCTCTAGTGCT MMRNKDKSQEEDSSLHSNASSHSASEEASGSDSGSQSESEQGSDPGSGHGSESNSSSESSESQSESESESAGSKSQPVLPEAKEKPASKKERIADVKKMWEEYPDVYGVRRSNRSRQEPSRFNIKEEASSGSESGSPKRRGQRQLKKq|fsysilymseavrslkrrrkshdpeelplgpgnkyvawkty* 05BR045 ENSG00000164190.19 ENSG00000079215.14 +/+ +/+ chr5:36953760 chr5:36679627 CDS/splice-site CDS/splice-site duplication 12 12 2 28 30 high out-of-frame . |Sodium:dicarboxylate_symporter_family(100%) . . ENSG00000164190.19 ENSG00000079215.14 ENST00000282516.13 ENST00000612708.4 downstream upstream duplicates(3) ^(ATTTTGTTCTGAGAGGGAGAGACGGAACGAGAGAGAGACACACACAGGGCTCCTTCCCCCCGCCCTCCCCCCCCTCCCTCCGTCGGTACCGACTCACCCGACACCACCAAGCCGCAGGGAGGGACGCCCCCGCCGACAGGAGAATTGGTTCCCGGGCCCGCGGCGATGCCCCCCCGGTAGCTCGGGCCCGTGGTCGGGTGTTTGTGAGTGTTTCTATGTGGGAGAAGGAGGAGGAGGAGGAAGAAGAAGCAACGATTTGTCTTCTCGGCTGGTCTCCCCCCGGCTCTACATGTTCCCCGCACTGAGGAGACGGAAGAGGAGCCGTAGCCACCCCCCCTCCC)GGCCCGGATTATAGTCTCTCGCCACAGCGGCCTCGGCCTCCCCTTGGATTCAGACGCCGATTCGCCCAG___TGTTTGGGAAATGGGAAGTAATGACAGCTGGCACCTGAACTAAGTACTTTTATAGGCAACACCATTCCAGAAATTCAGGATGAATGGGGATATGCCCCATGTCCCCATTACTACTCTTGCGGGGATTGCTAGTCTCACAGACC|GTATGCCCCCGTGGGTATTCTCTTCCTGATTGCTGGGAAGATTGTGGAGATGGAAGACATGGGTGTGATTGGGGGGCAGCTTGCCATGTACACCGTGACTGTCATTGTTGGCTTACTCATTCACGCAGTCATCGTCTTGCCACTCCTCTACTTCTTGGTAACACGGAAAAACCCTTGGGTTTTTATTGGAGGGTTGCTGCAAGCACTCATCACCGCTCTGGGGACCTCTTCAAG___TTCTGCCACCCTACCCATCACCTTCAAGTGCCTGGAAGAGAAC(AATGGCGTGGACAAGCGCGTCACCAGATTCGTGCTCCCCGTAGGAGCCACCATTAACATGGATGGGACTGCCCTCTATGAGGCTTTGGCTGCCATTTTCATTGCTCAAGTTAACAACTTTGAACTGAACTTCGGACAAATTATTACAATCAG___CATCACAGCCACAGCTGCCAGTATTGGGGCAGCTGGAATTCCTCAGGCGGGCCTGGTCACTATGGTCATTGTGCTGACATCTGTCGGCCTGCCCACTGACGACATCACGCTCATCATCGCGGTGGACTGGTTCCT___GGATCGCCTCCGGACCACCACCAACGTACTGGGAGACTCCCTGGGAGCTGGGATTGTGGAGCACTTGTCACGACATGAACTGAAGAACAGAGATGTTGAAATGGGTAACTCAGTGATTGAAGAGAATGAAATGAAGAAACCATATCAACTGATTGCACAGGACAATGAAACTGAGAAACCCATCGACAGTGAAACCAAGATGTAGACTAACATAAAGAAACACTTTCTTGAGCACCAGGTGTTAAAAACCATTATAAAATCTTTCCATCTCATTACAGCTCATTCGCTCCAGCAAGCCCGTCATCTTCCCTTTCCTCCCTTCTGATAAGACTGGAAAATAGTCCTCCAAAACACAAGGGAGGATTTTGGGTGGCCAAAGTGTACAATTTTCATCCCACAATTGAAATTTTTAAATCATTTCATGTTAGTCTTACCGAATAAGGTACCAAGATCACAAATAGTGTTGATCAGATCTTACAAGTTTATGTGGCACACAATCCTATAAATGTGATTTTTTTATATAAGTTAAAGAGACAAATAGTAGGCTAAAAACATTTTAAAATCAACTTTTGAAATTTAAAAATCTTTCAGAATACAATTCAGTTTTAGTTTCAAAATGTTAACAACTTGAATTACAACCGGTTATCAGTTGGACAGTAAGATTTTATCCCTTTCTCTTCTGACTGGTATACCTATTTCATTAGTAGCTAGGTGCACATATACATCTAGCACAGCTGTGAGGACAGACAGAAGGCAAAGTTTCCATGTGGCCTTGAGCAAGTCCCATCTCACCTCTAGGCCTCAGTGTCCTCATCTATAAAATGAGGGACTTCCCTAGAAGTCTTCATGGTCTCTTCCAGCCCAGACATCCTGTGATGTCATGAAAGCACCTGCCCTCTGTTTCCCCTCAGAACACCCTGTACCATCCATGGAGCACGAGGCCTTCAGAAAAGACACTTCAATGGGAGTGAACATTTCTAACTAAGGACAGGATGGCTGTGTGTGGTGGTCACCAGGTCCTGTGAGCAAAGTGCAGGTTATGCAAGTCGCCAGGCAGGAGGCCATTCCAGGAGTGGGATTATTCATCAAACTCTTTGCCCAGTTCATCCCAATGGGGGAAGTATTCCCTTCTTTCCTACTCTGGGAAGAATGTCTCCTGCCACTCCTCAACTGATGATAGACTTCGAAAACAGATGAGAAGACTAGCAGCTAGCAAGGGTGCTTGTGGTCACACTGTGGAACACTAAAGAGCTAGGAAAGAGTTGAGCACAGGCAACATTACAAACAAAGGATTTGAAAACACCAAGAGTACAGGTCTTCTTTAAGGAAGAATAAAAAAGAAGAGGTTCATTTTTCTGGCTTTTTTTTTCACCTGAAACACTTTTTCTCGAGTCCAAAATCATTCCCCCCGTGAAGTCTGCTTACCAAAACATAAGACGACTTATATATTTGAAAGAAGTCAAATGAATGAGCTCTCTAATAGAAGTCCATGAGTTGAGTGGGTATTTCTTATTTGAAAGTGTTTTTCTTTAATCAAAAGTCCTTAGAATGAGGGAAACAAAATATTTATTTGTTTTGGAATCCCACTTATCAAATCATTCAAAACTTTCAGCTGGAGTGGGGTTTGCTTTTGTTTTGTTTGTGTCCATAAGAGAAATGGTAGAAGATGAATCAGTATGAAGACACTGTCAATGAGGTTATGAGAAAAAAACAGCAGGGGCATTAGTTTCAGGCAAGGCAGCTCCCAGGTTTAGAGATTAATTTTTACCCCCTAAGGAATATCCAGTCAAAGACGCTGAGTGGGAGCTGTCAGGCAGTAGCAGCTGTGTTTGAGTTTCTGGCTGAAAATGGTGAAGAATGGACTTAATTATGCTAACAAACTGAAAAATCTAGACATAGATCCTCTGATATACAATTAGAGATATTTTTATATAGACCCCAAGCATTCTGTGCATAAAAGTTAACATTAGGCTGTGGTGCAGTAACCATTTAATGTCGAGGCTCTATTTCGGAAATACACTACAAATGTTAAAGTACGTGGCTGTCCTCTTAAGACACTAGTAGAGCAAAGACTTAATCATATCAACTTAATTCTGTTACACAATATGTGTTTTTTAATATACTAACCATTTCTTATGGAAAGGTCCTGTGGGGAGCCCATCCTCTCGCCAAGCCATCACAGGCTCTGCATACACATGCACTCAGTGTGGACTGGGAAGCATTACTTTGTAGATGTATTTTCAATAAAGAAAAAAATAGTTTTACATT)$ MNGDMPHVPITTLAGIASLTD|rmppwvfss* 05BR045 ENSG00000261349.1(604),ENSG00000187010.21(4699) ENSG00000117616.18 ./- -/- chr1:25267740 chr1:25247029 intergenic 5'UTR/splice-site deletion/read-through 13 10 0 42 154 high . . |Arginine/Serine-Rich_protein_1(100%) . . . ENSG00000117616.18 . ENST00000243189.12 upstream downstream duplicates(5),mismatches(1) TGGGTTCACAGCTGGACGTCGGGAGTGCTAGTTTGGAGTACGCCATTTGAGAGTAGGCGTGAGAAGTTGCTCTGTGTGCTGAGCGTTCTAAAGGAAG?CGTCCGTTGGCCTTCGTACCCGTCTTGATTGAG|GAAGTCCTGAGTTGAGGCTTGCGGGATCCTTTCCGGAGAAAGCGCAGGCTAAAGCCGCAGGTGAAGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCCGCAGGAGAAGGATTCGCCCTCGACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATTCCCGCGTCTCGAGCCGGTTTTCGTCCAGGAGTCGGAGGAGCAAGTCCAGGTCCCGTTCCCGAAGGCGCCAC(CAGCGGAAGTACAGGCGCTACTCGCGGTCATACTCGCGGAGCCGGTCGCGATCCCGCAGCCGCCGTTACCGAGAGAGGCGCTACGGGTTCACCAGGAGATACTACCGGTCTCCTTCGCGGTACCGGTCCCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTGTACCCGGAGGAGCACAGCAGATGGAGGGACAGATCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAG___ATCGAATGGAGCTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAGGAACAACCAACATTGACTTGCCAGCTAGTCTCAGAACTGTTCCTTCAGCCAAAGAAACAAGCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAA___CTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATGAAAAACCTACCCAGCAAAGAAGCATAGCTTTTAGCTCTAAT___AATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCAAGATCACCAAAAATAGATCAGAAAAAAAGTCCATATGGACTGTGGATACCTATCTAAAAGAAGAAAACTGATGGCTAAGTTTGCATGAAAACTGCACTTTATTGCAAGTTAGTGTTTCTAGCATTATCCCATCCCTTTGAGCCATTCAGGGGTACTTGTGCATTTAAAAACCAACACAAAAAGATGTAAATACTTAACACTCAAATATTAACATTTTAGGTTTCTCTTGCAGATATGAGAGATAGCACAGATGGACCAAAGGTTATGCACAGGTGGGAGTCTTTTGTATATAGTTGTAAATATTGTCTTGGTTATGTAAAAATGAAATTTTTTAGACACAGTAATTGAACTGTATTCCTGTTTTGTATATTTAATAAATTTCTTGTTTTCATTCTTA)$ . 05BR045 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 13 0 46 50 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(6),inconsistently_clipped(1),mismappers(1),mismatches(1) GAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGC(TCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 05BR045 ENSG00000116984.13 ENSG00000077522.13 +/+ +/- chr1:236816543 chr1:236751833 CDS/splice-site intron inversion/3'-3' 9 11 1 26 19 high stop-codon . Homocysteine_S-methyltransferase(100%)| . . ENSG00000116984.13 ENSG00000077522.13 ENST00000366577.10 . downstream downstream duplicates(6) ^(AGAACTAACCGCGCTCTGAAAGGTTCTAAATGTCTGCGGGGCTCAGAGCCGGATGTCACGTCGTCCTCCTCTGCCGGTTTTCTCTTGGGTCCTTTTCCGTGCCGTCCCGCGACTCCGCCTCTGGCCGCGCGTGTCTGGCTGCTAGGCCGACACCAAGGACTGGCCGGGTACCCGGGAAGAAAGCACGTGCTCCAGCAGTTGCCGCGCCCAGCCCCGAGAGAGGCCCTAGGGCGCTGCGGGCTTTCGGGGTCCGCAGTCCCCCCGCGACGCGAGCCAACGGGAGGCGTCAAAAGACCCGGGCCTTGTGTGGCAGGCTCGCCTGGCGCTGGCTGGCGTGGCCCTTGGCCGTCGTCACCTGTGGAGAGCACGTCTTCTCTGCCGCGCCCTCTGCGCAAGGAGGAGACTCGACAACATGTCACCCGCGCTCCAAGACCTGTCGCAACCCG___AAGGTCTGAAGAAAACCCTGCGGGATGAGATCAATGCCATTCTGCAGAAGAGGATTATGGTGCTGGATGGAGGGATGGGGACCATGATCCAGCGGGAGAAGCTAAACGAAGAACACTTCCGAGGTCAGGAATTTAAAGATCATGCCAGGCCGCTGAAAGGCAACAATGACATTTTAAGTATAACTCAGCCTGATGTCATTTACCAAATCCATAAG___GAATACTTGCTGGCTGGGGCAGATATCATTGAAACAAATACTTTTAGCAGCACTAGTATTGCCCAAGCTGACTATGGCCTTGAACACTTG___GCCTACCGGATGAACATGTGCTCTGCAGGAGTGGCCAGAAAAGCTGCCGAGGAGGTAACTCTCCAGACAG___GAATTAAGAGGTTTGTGGCAGGGGCTCTGGGTCCGACTAATAAGACACTCTCTGTGTCCCCATCTGTGGAAA)GGCCGGATTATAGGAACATCA___CATTTGATGAGCTTGTTGAAGCATACCAAGAGCAGGCCAAAGGACTTCTGGATGGCGGGGTTGATATCTTACTCATTGAAACTATTTTTGATACTGCCAATGCCAAG___GCAGCCTTGTTTGCACTCCAAAATCTTTTTGAGGAGAAATATGCTCCCCGGCCTATCTTT___ATTTCAGGGACGATCGTTGATAAAAGTGGGCGGACTCTTTCCGGACAGACAGGAGAGGGATTTGTCATCAGCGTGTCTCATGGAGAACCACTCTG|ACGCTGCTGAAGGGTCCTTAAGAGTTTGTCACGTTTTGCCTGTGAAATTTGGGATAAAGGAAAATCCTGATCATGATGCAAAATGAGGCCGTCACCCTAAGTCCCCGAGGCGTTAACTTCCTCCTTCGACGTCAGCTTCAAGAATGCCCCCTGGTCCCACACCAGGCCCTCAGCCACCCACCTTGTCCCACTTGGTCCGGAGCTCATCCATGGTGACAGTGCTGTACGGGTTGCTTGAGCTGATTCTGATGTTGTAGCTCTGAATCACCTTCTCCACCTCGTTCTGGATGGCCATGATGGACTGCCGCTCTCCGTCCGCCTCGGGCAGC . 05BR045 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 15 5 0 87 44 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(4),inconsistently_clipped(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGG)CTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCAT...___TCTTGCCACTTGCCTAGTGAGGCTTTTCCGAACCTGGAAGGAGACGTCTAGAAATCCCAACTTTGCTGT___AACAGACAAAAGGACGTGGAATGTACTTTCTGCTACAGCCATTACAGTCAACTAGATTTGAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 05BR045 ENSG00000175455.15 ENSG00000160145.15 -/- +/- chr3:123931102 chr3:124395506 CDS/splice-site intron duplication/5'-5' 12 6 1 163 19 high out-of-frame . Coiled-coil_domain-containing_protein_14(100%)| . . ENSG00000175455.15 ENSG00000160145.15 ENST00000488653.6 . upstream downstream duplicates(2) ^(GACAAGCCGGGAAGCTTGGAGGGGTCTATTGCGTACGCCCAAGGCGCTGGGCCTGGAGCAGGAGAAAGGGAGTGGAGGCGCGTCGGAGACTATGAAGCGCGGCATTCGGCGGGATCCTTTCCGGAAGCGGAAGCTCGGCGGGCGGGCCAAGAAGGTCCGGGAGCCCACGGCGGTTAATTCTTTTTACCGTGAGGCTTCACTTCCCTCGGTCTGGGCTTCTCTGAGGCGGCGAGAGATGGTCAGGTCTGGAGCTCGACCGGGCCAG___GTGTTATCTTCAGGAAGGCACACTGGACCTGCTAAATTAACAAATGGAAAGAAAGC___GACCTATTTAAGAAAAATACCACGTTTTAATGCAGATTCTGGCTATTCCATCCATTCTGATTCAGAAAGTCAG___GCTGAAACTGTACACGGGCTTGATGGTTGTGCTTCTTTGCTGAGGGACATTTTGAGAAATGAAGATTCAG___CATCTTCAGATAATAAGAAACAGATACCTAATGAAGCTTCTGCTAGAAGTGAAAGAGACACATCAGACCTAGAGCAAAACTGGTCATTGCAAGATCATTATAGAATGTATTCACCCATAATATACCAAGCCCTCTGTGAGCACGTGCAGACTCAGATGTCACTGATGAATGACTTGACTTCAAAGAACATCCCTAATGGAATTCCTGCTGTACCATGCCATGCTCCCTCTCATTCTG___AATCTCAGGCAACTCCTCATTCTAGTTATGGCTTATGTACCTCCACCCCAGTCTGGTCACTTCAGCGGCCACCCTGCCCTCCAAAGGTTCATTCT___GAAGTTCAAACTGATGGCAACAGTCAGTTTGCATCACAAGGTAAAACAGTTTCTGCAACCTGTACTGATGTTCTACGGAATTCATTTAATACCAGTCCTGGAGTTCCATGTAGCCTGCCCAAAACTGACATATCAGCTATTCCAACATTGCAGCAACTGGGCCTTGTTAATGGAATTCTGCCACAACAAGGAATTCATAAGGAAACAGACCTACTAAAATGTATTCAAACATATTTGTCTCTTTTTCGATCTCATGGAAAAGAAACGCATCTGGACAGTCAGACACACCGAAGCCCTACTCAGTCACAACCAGCTTTCTTGGCCACTAATGAAGAAAAATGTGCCAGAGAGCAAATTAGAGAGGCCACAAGTGAAAGAAAGGATTTAAACATACATGTGCGAGATACAAAAACAGTGAAGGATGTACAGAAGGCAAAAAATGTGAACAAGACAGCTGAAAAAGTTAGAATTATAAAATATTTGTTGGGAGAGCTCAAGGCCCTGGTAGCAGAACAAG___AGGATTCAGAAATTCAGAGGTTGATTACAGAAATGGAGGCATGTATATCTGTACTTCCAACAGTAAGTGGAAACACAGATATTCAAGTTGAGATAGCACTGGCCATGCAACCATTAAGAAGTGAGAATGCTCAGTTACGAAG___GCAGTTGAGAATTTTGAACCAGCAACTCAGAGAACAACAGAAAACTCAAAAACCATCTGGTGCTGTGGATTGCAACCTTGAAT___TGTTTTCTCTTCAGTCATTGAATATGTCACTGCAAAATCAATTGGAGGAGTCACTAAAGAG)CCAGGAATTACTGCAGAGTAAAAATGAAGAGCTGTTAAAAGTGATTGAAAATCAGAAAGATGAAAACAAAAAATTTAGTAGTATATTTAAAGACAAAGATCAAACTATACTTGAAAATAAACAGCAATATGATATTGAGATAACAAGAATAAAAATTG___AATTGGAGGAAGCCCTAGTCAATGTGAAAAGCTCCCAGTTTAAGTTAGAAACTGCTGAAAAGGAAAACCAGATATTGGGGATAACATTACGTCAGCGTGATGCTGAGGTGACTCGACTAAGAGAATTAACCAG|ATTCAAGTTGAGTATGGTGCAGGCATTTTTACATCTTACAGATAAAGAAACCGAAGCTCACACAAGACCACAAAGCAAGATTTTGCTGAGTCAAGACTGGGACAGGACTTATCTCACGTCTAGCCCGAGGCATTTCCCACTGGAAAGCTCTGCCCATGCTGACCTGGCCTCGCTGGGCTCCCCGAGGGAGGGAGGCGCTGACCTGAGCTGCTGGATAAGGTCTTCGCCTTCCTTGATGACATTGAGT MKRGIRRDPFRKRKLGGRAKKVREPTAVNSFYREASLPSVWASLRRREMVRSGARPGQVLSSGRHTGPAKLTNGKKATYLRKIPRFNADSGYSIHSDSESQAETVHGLDGCASLLRDILRNEDSASSDNKKQIPNEASARSERDTSDLEQNWSLQDHYRMYSPIIYQALCEHVQTQMSLMNDLTSKNIPNGIPAVPCHAPSHSESQATPHSSYGLCTSTPVWSLQRPPCPPKVHSEVQTDGNSQFASQGKTVSATCTDVLRNSFNTSPGVPCSLPKTDISAIPTLQQLGLVNGILPQQGIHKETDLLKCIQTYLSLFRSHGKETHLDSQTHRSPTQSQPAFLATNEEKCAREQIREATSERKDLNIHVRDTKTVKDVQKAKNVNKTAEKVRIIKYLLGELKALVAEQEDSEIQRLITEMEACISVLPTVSGNTDIQVEIALAMQPLRSENAQLRRQLRILNQQLREQQKTQKPSGAVDCNLELFSLQSLNMSLQNQLEESLKSQELLQSKNEELLKVIENQKDENKKFSSIFKDKDQTILENKQQYDIEITRIKIELEEALVNVKSSQFKLETAEKENQILGITLRQRDAEVTRLRELTr|fklsmvqaflhltdketeahtrpqskillsqdwdrtyltssprhfplessahadlaslgspreggadlscwirsspslmtl 05BR045 ENSG00000169504.15 ENSG00000285959.1 +/+ +/+ chr1:24814219 chr1:22025292 CDS/splice-site exon/splice-site duplication 12 6 0 126 25 high out-of-frame . . . . ENSG00000169504.15 ENSG00000285959.1 ENST00000374379.9 ENST00000650360.1 downstream upstream duplicates(3) ^(AGTCCAGCGAGCAGCACGGCGGGAACCGGCAGCCGGAGCAGTCCCGGAGCAGAAGCAGCAGCAGCAGCAGCAGCCCTCGCCGTTCGCGGAGCGCAGCCGAGCCGGCCATGGCGTTGTCGATGCCGCTGAATGGGCTGAAGGAGGAGGACAAAGAGCCCCTCATC)GAGCTCTTCGTCAAG___GCTGGCAGTGATGGTGAAAGCATAGGAAACTGCCCCTTTTCCCAGAGGCTCTTCATGATTCTTTGGCTCAAAGGAGTTGTATTTAGTGTGACGACTGTTGACCTGAAAAG___GAAGCCAGCAGACCTGCAGAACTTGGCTCCCGGGACCCACCCACCATTTATAACTTTCAACAGTGAAGTCAAAACGGATGTAAATAAGATTGAGGAATTTCTTGAAGAAGTCTTATGCCCTCCCAA|TTGGGCAAACTGCGGCTCAGAAAGATAAAGAACTTCTCCGGAGCGAAAAAGCTGCTAAGAATGTATCCAAAACTCCGCACG___AAGTCTGGAACGTTTTTTCTTAGAGTTCCAGAATTGtGACTGAAGTGTACCCAGAGACACAAAGAAATACAGAAGTCCAGAATGATCAAATGAGATCACTAC(CCAATGAAATGATGGGCCGAGGAGCCAGAAGTTGTCCTACTACCTGCTTTCCAGGTCCAGATTCCACGAGAGCCTTCTGGGCTCCCACCAGAGACCCTCAGTGAAGACTCTGTTGAAGACTTTAAGACCATGCTAGAAAGCCTCCCGGCAGAGGTTCAGGAAGTTCTGCTATGAGGATGCAGCTGGCCCCAGGGATGTCCTCAGGCATCTCTAGGACCTTGCTGGACGGTGGTGGC)$ MALSMPLNGLKEEDKEPLIELFVKAGSDGESIGNCPFSQRLFMILWLKGVVFSVTTVDLKRKPADLQNLAPGTHPPFITFNSEVKTDVNKIEEFLEEVLCPPn|wancgser* 05BR045 ENSG00000167930.17 ENSG00000161981.11 +/+ +/+ chr16:234857 chr16:56539 5'UTR/splice-site CDS/splice-site duplication 1 15 0 63 401 high . . . . . ENSG00000167930.17 ENSG00000161981.11 ENST00000301679.7 ENST00000383018.7 downstream upstream duplicates(2) ^(GAAAGAAGGCGGGAAGAGGACAAGGTCGGGAGAGGAGGAGGAGGGGAGCGAGGACGCAGAGAAGGAGGGGAAAGAGGACGGAGAGGAGCGAGGACGGAGGGGGGACGGGAACGAAGAGGGGCGAGGACGTTCAGCATCCATTGCGACAGCGACAAACAGGACACCGCCAGGTTCCCGGCGGAGGCAGCGCCCAAGAT)CCCCGTTGCCGAGCAACCGAAGCATGGCGGTGGGGCGGGGTCGGAGCCTGCGCATTTCCGCCCCCGCCCGCCCGGCTGGTCGGAAGTGACGCCAGGGGGCGGGGCCAGCGGCGCGGgCGGGTGAGAGGCCGCGGCGGCAG|GTCCTACGTGTGGAGGACGTACCATCTGACCTCTGCAGGAGAGAAACTCACGGAAGACAGAAAGAAGCTCCGAGA___CTACGGCATCCGGAATCGAGACGAGGTTTCCTTCATCAAAAAGCTGAGGCAAAAGTGAGCCTCCAGACAGGACAACCCTCTTCATCACTGGTGGCTGAGCTTTTTCCCAGCAGGAATGGGTCCTCGAATCATCGTGCCTCTTTCACAGAAAGGACGTTGTGGTGGCCTCACCCCAGGCATGCCCAACAGgAACTGTCAGCATAAACCTGGGGGCCCTCAGGACTAGGA(CAGGGTGAGCCAGTGCTCCCTCCTTTCATGTACTTGGCCTGAGACTGACCTCTCCCTAGGTCCAAATGCCCTAGTCACATGGCAGACCCACGGCCTGGCCCACTGTATAAAATAAACCTGTTTGCTTCTTAGTTTGAAAAGTAGAAAGCCACAGTAACCTGGGTAGCAAAGACTGAGATTGCCCCATCACAGAGGTGAGTTAAGGGGAGAGAATTGGTACAGGCGAGTCCTATAGTCCAAGATGGCGCCACACCACCAAAGCCTTGAGGCCACACCACTCCCCAAACCACACAACTGTGTTACCATGATCTCCACAGCAAGGAGGAAATAAAAGCAGAGCGGCTTTAGGGTTTGC)$ . 05BR045 ENSG00000185104.20 ENSG00000284650.1 -/- +/+ chr1:50567077 chr1:37133487 CDS/splice-site exon inversion 6 5 0 126 49 high out-of-frame . UBA-like_domain(100%)| . . ENSG00000185104.20 ENSG00000284650.1 ENST00000396153.7 ENST00000642067.1 upstream upstream . ^(AACCAGGGGCGGAGGCGGCGGCCAGGGAGGAAGCGGAGGAGGCGGAGGCGGCCGCGGCGTTCGCCCGCCCGCTCGCTCGCTCGGTTTCCCCGCCCCCGCCGGGCTTAACGCCGCTGAAGGTATCCGGGTGCGCGCTGTCGCAACCTGCCCTCATCCTGGCCCGCGACTGTAAGACCGGACCCACATCCAGACCAATCTTCCTGTCCGGGCTGCTGCGACGCGGGCTCCGCAGGTTGCAGGCGGGCGGCCGGGGCGCCTGAAGGTTACCGAGTGCATGAGCGCCTAGCGCTTCCCGCGCTGCCCCGCCCGCTGGCCCGCCGACCCGCCCGCCGGCTCGCCCGCCAGCCCCTCGGCGCCCGGCGGCGGCGGCGGCGGTGGCGGCGACGGTCGCAGGAGGTGCCGTCTGCCTCCCAGGTGCGCGCTTCGCTCCCGGAGCCGCGGAACTCGGCGGCCGCCATGGCGTCCAACATGGACCGGGAGATGATCCTGGCGGATTTTCAG___GCATGTACTGGCATTGAAAACATTGACGAAGCTATTACATTGCTTGAACAAAATAATTGGGACTTAGTG___GCAGCTATCAATGGTGTAATACCACAGGAAAATGGCATTCTACAAAG___TGAATATGGAGGTGAGACCATACCAGGACCTGCATTTAATCCAGCAAGTCATCCAGCTTCAGCTCCTACTTCCTCTTCTTCTTCAGCGTTTCGACCTGTAATGCCATCCAGGCAGATTGTAGAAAGGCAACCTCGGATGCTGGACTTCAGGGTTGAATACAGAGACAGAAATGTTGATGTGGTACTTGAAGACACCTGTACTGTTG___GAGAGATTAAACAGATTCTAGAAAATGAACTTCAGATACCTGTGTCCAAAATGCTGTTAAAAGGCTGGAAGACGGGAGATGTGGAAGACAGT___ACGGTCCTAAAATCTCTACACTTGCCAAAAAACAACAGTCTTTATGTCCTTACACCAGATTTGCCACCACCTTCATCATCTAGTCATGCTGG___TGCCCTGCAGGAGTCATTAAATCAAAACTTCATGCTGATCATCACCCACCGAGAAGTCCAGCGGGAGTACAACCTGAACTTCTCAGGAAGCAGTACTATTCAAGAG___GTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCA___ATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAA___CAAATCACCGATGTTCATATGGTTAGTGATAGCGATGGAGATGACTTTGAAGATGCTACAGAATTTGGGGTGGATGATGGAGAAGTATTTGGCATGGCGTCATCTGCCTTGAGAAAATCTCCAATGA___TGCCAGAAAACGCAGAAAATGAAGGAGATGCCTTATTACAATTTACAGCAGA)GTTTTCTTCAAG___ATATGGTGATTGCCATCCTGTATTTTTTATTGGCTCATTAGAAGCTGCTTTTCAAGAGGCCTTCTATGTGAAAGCCCGAGAT___AGAAAGCTTCTTGCTATCTACCTCCACCATGATGAAAGTGTGTTAACCAACGTGTTCTGCTCACAAATGCTTTGTGCTGAATCCATTGTTTCTTATCTGAGTCAAAATTTTATAACCTGGGCTTGGGATCTGACAAAGGACTCCAACAGAGCAAG|ATGCTGCGAGCAACAGGGAGCAAGCCAGAGAGGCCGATGGAGGAAAAGTCAGAGACAAAGAGATGTTGCTGCCAAATCCCTTTCATCTCCAGCAGAGAGAGAGAGAGTCTGAAACTCCACG___ATGAGGAACTGAGACCCAGAGAGTGAAAGTCACTGGACCCTGGGCACACAGAGTCAAAATGCACTGTCTATTCTGCCAGGCCTTTGGTCCAGCTGGACTGATGGGAAAAGGTGCAGGGGAG(GAAGGCCTCAGGCGTCGTTTGGAGAAGTTTAAAATGGATGCTGTGGCCAGTGGAGAGAGATCAGTCTAAGCTCTGAATCGAACACTCTGGTGATTTCTGCAAAAGGTGGATGGAAGGAGTCGAGGCTGGAGGCAGGGATCATGAGGGAGGCAGCTTCCACAGGCATTTTTTTTTTTTGCAACTTTTTAAATTTATTTTTCTAATTGATGCATAACAATTGTACTTATGGGGTACAGAGTGATATTTCGATACATACAATGTATAGTAATCAGATCCGGGTAATTAGCATATTCATTATCTCAAACATGTATTATCTCTTTGTGTTGGGAACATTTGATATCCTCCTTCTAGCTATTGGAAACTGTACGTTATTGTTAACTATAGTCATCCTACAGTGCTATAGAGCACTAGAACTTACTCTACCGCCTAGCTGTAATTTTGTGTCCTTGAAAAAATCTCTCCCTATCCTTCCTCCCCACTCCTCTTCCCAGCCTCCAATAACCTCTGTTCTGCTTTTTACTTCTATGAGATCAACTTTCTTTTAGCTTCCGCATATGAGTGAGAATGTTCGGTGTTTAACTTTCTGTTCCTAGCTTATCTTATCTAACATAATGTCCTCCAGTTCCACCCAAGTTGCTGCATATGGAAGGACTTCCTTCTTTTTTATGGCTGAATAATATTCCATTGTGTATATGTACCACACTTTCTTTACCCACCCATCTGTTGTTGGGCACTTGGGTTGATTCCATATCTTGGCTATTGTGAATAGTGCTGCAATAAACATGAAGGTGCAGATATC)$ MASNMDREMILADFQACTGIENIDEAITLLEQNNWDLVAAINGVIPQENGILQSEYGGETIPGPAFNPASHPASAPTSSSSSAFRPVMPSRQIVERQPRMLDFRVEYRDRNVDVVLEDTCTVGEIKQILENELQIPVSKMLLKGWKTGDVEDSTVLKSLHLPKNNSLYVLTPDLPPPSSSSHAGALQESLNQNFMLIITHREVQREYNLNFSGSSTIQEVKRNVYDLTSIPVRHQLWEGWPTSATDDSMCLAESGLSYPCHRLTVGRRSSPAQTREQSEEQITDVHMVSDSDGDDFEDATEFGVDDGEVFGMASSALRKSPMMPENAENEGDALLQFTAEFSSRYGDCHPVFFIGSLEAAFQEAFYVKARDRKLLAIYLHHDESVLTNVFCSQMLCAESIVSYLSQNFITWAWDLTKDSNRAr|cceqqgasqrgrwrksqrqrdvaakslsspaererv* 05BR045 ENSG00000089902.10 ENSG00000259535.1(8624),ENSG00000259525.1(26172) +/+ ./+ chr14:102681978 chr14:103158032 CDS/splice-site intergenic deletion 4 5 0 32 23 high out-of-frame . ELM2_domain(100%)| . . ENSG00000089902.10 . ENST00000262241.7 . downstream upstream duplicates(3) ^(GGTGCCAGTGAAGTGAGGGCGGCGATGAGAGCGAAAGTTGCGCTCGGCTCGTCGCTGGGGGCTTGAAGCGGCTCCGCGCTCTGCCCGTTTGGGCCTCCCCCGACTCGGACTCGCGCCCGTGGGCTCCCGCCGCGCCCGCCCGGCCCCGCGCCGGCCCCGCGCCCCCTCCCCCGTCTCGGCGCCCCCTCCTCAGGAGCCGCGGGTCCCCGCCACTTTCGCACGGCCCCGGCCCCCGCCGATGCCGGCCATGGTGGAGAAGGGCCCCGAGGTCTCAGGGAAGCGGAGAGGGAGGAACAACGCGGCCGCCTCCGCCTCCGCCGCCGCCGCCTCCGCCGCCGCCTCGGCCGCCTGCGCCTCGCCAGCCGCCACTGCCGCCTCGGGCGCCGCCGCCTCCTCAGCCTCGGCCGCCGCCGCCTCAGCCGCCGCCGCCCCCAATAATGGCCAGAATAAAAGTTTGGCGGCGGCGGCGCCCAATGGCAACAGCAGCAGCAACTCCTGGGAGGAAGGCAGCTCGGGCTCGTCCAGCGACGAGGA)GCACG___GTGGCGGTGGCATGAGGGTCGGACCCCAGTACCAGGCGGTGGTGCCCGACTTCGACCCCG___CCAAACTGGCAAGACGCAGTCAAGAACGGGACAATCTTGGCATGTTGGTCTGGTCACCCAATCAAAATCTGTCAGAAGCAAAGT|GCTCAGGCAGGTTCCCCTTACGCACGTACTGATCGGTTCTCGGCTGAACACTCGTGGGAACCTTCTGCAGACCTCCGGCTCCCTCTGTGCAGCGCTCTGTCCTCCTGCTCCGCCCTGTGGATCCTGCCACCTAGGCTTGCCTGGACTCCCAGCTGGCTGTGCTCCGCTCAGGAGGAGGCTGGTCCCGTCTCCTTACCCCATGGCCTGGAGACTCTCCACGCGGCTAGCCGGGCATCTCAGGGCTCACCCCACTTGATTCCCGTTTTCCTTCATTGCCTGACGCTCAGTGTCACGAAAGCTCGTCTTGTAGATTTTTCTCTTTCTCAGG MPAMVEKGPEVSGKRRGRNNAAASASAAAASAAASAACASPAATAASGAAASSASAAAASAAAAPNNGQNKSLAAAAPNGNSSSNSWEEGSSGSSSDEEHGGGGMRVGPQYQAVVPDFDPAKLARRSQERDNLGMLVWSPNQNLSEAK|csgrfplrty* 05BR045 ENSG00000142599.19 ENSG00000232208.2(927),ENSG00000232663.2(1071) -/- ./- chr1:8655973 chr1:8908671 CDS/splice-site intergenic duplication 3 6 0 47 13 high out-of-frame . BAH_domain(100%)| . . ENSG00000142599.19 . ENST00000400908.7 . upstream downstream duplicates(1) ^(AGACGCTCGCGAGCAACCCTCCGCGCTCCGGAGCCTCCTCAGCCTCCCGCACACCCCGAGACGCTCGCCCCGCTGGGCCTCGGTCCCCGCCTCCTCCCCCGTCCTTTTCCCCTCTCTCGCTCCCCACATTGTCTCTGCCTCATTTTCTCTCCTAGTTGAGGATTAAAAAAAAAAAAAAATCACCATCATCCTCAGGGAGCCCCCTCGCCCTCGGAAAACAAAACCAGACATGATCCTGGGCTCCTGCTTCTGAAAGATCTGCCCGACCGAGGAGGAGGGAGCCTAGGTTCAAGTCGCAGGAAAGGTCACGGCAGGGAAGCCCCCTCAGCCCCTCCGCGTCGCCTCCCCGCGGGCCGCCCCTCTCGGCCCTGCGCCCCGCGGCCCCGCAGCCTCCGCGCGGCCTCCCGCCCCATCCCCGCCACTTTCCCCGGAGCTGGGCCGCGAACACCTCACTATTGATGGTGTAGCGCTTTAGGGGAAG___CATTTTTGAAACGTTGGGGTTGTTGGAGTGGTTGGATTTTCCCTGGAATTGAGTGAGAAATTCAGAAGACTGAAGCCCAGGCTTACTGTCTACCTTTCACGGAGGCCTAGCCGTGAGAGGACAGAAGAAGGCACGTGGCGAATCATGACAGCGGACAAAGACAAAGACAAAGACAAAGAGAAGGACCGGGACCGAGACCGGGACCGAGAGAGAGAGAAAAGAGACAAAGCAA)GAGcGAGTGAGAATTCAAGGCCACGCCGGAGCTGTACCTTGGAAGGAGGAGCCAAAAATTATGCTGAGAGTGATCACAGTGAAGACGAGGACAATGACAACAATAGTGCCACCGCAGAGGAGTCCACGAAGAAGAATAAGAAGAAACCACCGAAAAAAAAGTCTCGTTATGAAAGGACAGATACCGGTGAGATAACATCCTACATCACTGAAGATGATGTGGTCTACAGACCAGGAG|TGCCGCCGGGTTAGAGTCTCCGCGACTGAGCTGGTCTCGGCAAGCGGTGCCCAACATGGGGGCTCACATCCGGGTCAAAGGGTCGCCGGAGCGACAGTTGGAGAACGTGAAACTAAACTGGAGGACACCCGAGTACTCTTAAGCAATCCCCGTG___AGCCAGGAGAGCGT MTADKDKDKDKEKDRDRDRDREREKRDKARaSENSRPRRSCTLEGGAKNYAESDHSEDEDNDNNSATAEESTKKNKKKPPKKKSRYERTDTGEITSYITEDDVVYRPG|vppg* 05BR045 ENSG00000110713.17 ENSG00000167332.9 -/- -/- chr11:3797400 chr11:4682761 5'UTR/splice-site 5'UTR/splice-site duplication 3 5 0 27 19 high . . |Olfactory_receptor(100%) . . ENSG00000110713.17 ENSG00000167332.9 ENST00000359171.8 ENST00000396950.4 upstream downstream . ^(AACCGCGGCGGCGAGGGGCGGGACTCCACGGCCCTCTCACCGCTCCTACCCTGTGCCTCCCCGAACTCCTTCTGCCCCTCCTCTTCCCTCTCGCCCCTTCCCCCTTCAGTTCGGTTTCAAAAGACGCGTTGCCCAATGAATAACAGGGTCGACCCAGAGTGGCGGCCGCGTCCACCAATTCGCGGACGGCGAGGGCGGAGCGTCCGCAACGAGCCTCTGACGCCGGGCGGCGTGTGACGCAGTCGGGCC)CTCTGCGCGCTGCGCCCGAAGCGGCGGTCGGTGGCAGGGGTGGTAGCGGCGGCGGCGACGGTTTCGTGGGGGCCGCGCGCTGCTCTGTGAGCGGCGGGTGGCAGCAGGGGACTCCTGACACTTCCCCTTCCCCACCGAACCGCG|ACTGCCAGTGTGACCTCACCCTCTCCAGTCACCCCTCCTCAGTTCCAGCTATGAGTTCCTGCAACTTCACACATGCCACCTTTGTGCTTATTGGTATCCCAGGATTAGAGAAAGCCCATTTCTGGGTTGGCTTCCCCCTCCTTTCCATGTATG(TAGTGGCAATGTTTGGAAACTGCATCGTGGTCTTCATCGTAAGGACGGAACGCAGCCTGCACGCTCCGATGTACCTCTTTCTCTGCATGCTTGCAGCCATTGACCTGGCCTTATCCACATCCACCATGCCTAAGATCCTTGCCCTTTTCTGGTTTGATTCCCGAGAGATTAGCTTTGAGGCCTGTCTTACCCAGATGTTCTTTATTCATGCCCTCTCAGCCATTGAATCCACCATCCTGCTGGCCATGGCCTTTGACCGTTATGTGGCCATCTGCCACCCACTGCGCCATGCTGCAGTGCTCAACAATACAGTAACAGCCCAGATTGGCATCGTGGCTGTGGTCCGCGGATCCCTCTTTTTTTTCCCACTGCCTCTGCTGATCAAGCGGCTGGCCTTCTGCCACTCCAATGTCCTCTCGCACTCCTATTGTGTCCACCAGGATGTAATGAAGTTGGCCTATGCAGACACTTTGCCCAATGTGGTATATGGTCTTACTGCCATTCTGCTGGTCATGGGCGTGGACGTAATGTTCATCTCCTTGTCCTATTTTCTGATAATACGAACGGTTCTGCAACTGCCTTCCAAGTCAGAGCGGGCCAAGGCCTTTGGAACCTGTGTGTCACACATTGGTGTGGTACTCGCCTTCTATGTGCCACTTATTGGCCTCTCAGTGGTACACCGCTTTGGAAACAGCCTTCATCCCATTGTGCGTGTTGTCATGGGTGACATCTACCTGCTGCTGCCTCCTGTCATCAATCCCATCATCTATGGTGCCAAAACCAAACAGATCAGAACACGGGTGCTGGCTATGTTCAAGATCAGCTGTGACAAGGACTTGCAGGCTGTGGGAGGCAAGTGACCCTTAACACTACACTTCTCCTTATCTTTATTGGCTTGATAAACATAATTATTTCTAACACTAGCTTATTTCCAGTTGCCCATAAGCACATCAGTACTTTTCTCTGGCTGGAATAGTAAACTAAAGTATGGTACATCTACCTAAAGGACTATTATGTGGAATAATACATACTAATGAAGTATTACATGATTTAAAGACTACAATAAAACCAAACATGCTTATAACATTAAGAAAAACAATAAAGATACATGATTGAAACCAAGTTGAAAAATAGCATATGCCTTGGAGGAAATGTGCTCAAATTACTAATGATTTAGTGTTGTCCCTACTTTCTCTCTCTTTTTTCTTTCTTTTTTTTTTATTATGGTTAGCTGTCACATACAACTTTTTTTTTTTTTGAGATGGGGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACATCCCATGTTGAAGTAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTAGAGGAACGTGCCACCATGACTGGCTAATTTTCTGTATTTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACTGTGCCCGGCCTGTGTACAACTTTTTAAATAGGGAATATGATAGCTTCGCATGGTGGTGTGCACCTATAGCCCCCACTGCCTGGAAAGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGTTTGAGGTTACAGTGATCCACGATCGTACCACTACACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAGCATAAAATGGAATAACATATCAAATGAAACAGGGAAAATGAAGCTGACAATTTATGGAAGCCAGGGCTTGTCACAGTCTCTACTGTTATTATGCATTACCTGGGAATTTATATAAGCCCTTAATAATAATGCCAATGAACATCTCATGTGTGCTCACAATGTTCTGGCACTATTATAAGTGCTTCACAGGTTTTATGTGTTCTTCGTAACTTTATGGAGTAGGTACCATTTGTGTCTCTTTATTATAAGTGAGAGAAATGAAGTTTATATTATCAAGGGGACTAAAGTCACACGGCTTGTGGGCACTGTGCCAAGATTTAAAATTAAATTTGATGGTTGAATACAGTTACTTAATGACCATGTTATATTGCTTCCTGTGTAACATCTGCCATTTATTTCCTCAGCTGTACAAATCCTCTGTTTTCTCTCTGTTACACACTAACATCAATGGCTTTGTACTTGTGATGAGAGATAACCTTGCCCTAGTTGTGGGCAACACATGCAGAATAATCCTGTTTTACAGCTGCCTTTCGTGATCTTATTGCTTGCTTTTTTCCAGATTCAGGGAGAATGTTGTTGTCTATTTGTCTCTTACATCTCCTTGATCATGTCTTCATTTTTTAATGTGCTCTGTACCTGTCAAAAATTTTGAATGTACACCACATGCTATTGTCTGAACTTGAGTATAAGATAAAATAAAATTTTATTTTAAATTTT)$ . 05BR045 ENSG00000132199.20 ENSG00000132204.14 -/- -/- chr18:683246 chr18:1276077 CDS/splice-site exon/splice-site duplication 6 2 0 181 19 high out-of-frame . Enolase_C-terminal_domain-like(100%),Mandelate_racemase_/_muconate_lactonizing_enzyme__N-terminal_domain(100%)| . . ENSG00000132199.20 ENSG00000132204.14 ENST00000383578.7 ENST00000657423.1 upstream downstream duplicates(1) ^(CGCCCTCCCGCCGCGCGCTCGGGATCCCGACCAGTCCTGACCGCACGGGGGCCGCGGCCACGGGGCGCAGGGGCCATGGTGCGCGGCAGGATCTCCCGGCTCTCGGTCCGGGACGTGCGCTTCCCCACGTCGCTTGGGGGCCACGGCGCGGACGCCATG___CACACGGACCCTGACTACTCGGCTGCCTATGTCGTCATAGAAACTGATGCAGAAGATGGAATCAAGGGGTGTGGAATTACCTTCACTCTGGGAAAAGGCACTGAAGTTG___ATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAG___CCTGTCTGGAAGTTACTTGTGGACATG___GATCCCAGGATGCTGGTATCCTGCATAGATTTCAGGTACATCACTGATGTCCTGACTGAGGAGGATGCCCTAG___AAATACTGCAGAAAGGTCAAATTGGTAAAAAAGAAAGAG___AGAAGCAAATGCTGGCACAAGGATACCCTGCTTACACGACATCGTGCGCCTGGCTGGGGTA)CTCAGATGACACGTTGAAGCAG___CTCTGTGCCCAGGCGCTGAAGGATGGCTGGACCAG___GTTTAAAGTAAAGGTGGGTGCTGATCTCCAGGATGACATGCGAAGATGCCAAATCATCCGAGACATGATTGGACCGGAAAAGACTTTG___ATGATGGATGCCAACCAGCGCTGGGATGTGCCTGAGGCGGTGGAGTGGATGTCCAAGCTGGCCAAGTTCAAGCCATTGTGGATTGAGGAGCCAACCTCCCCTGATGACATTCTGGGGCACGCCACCATTTCCAAG|CAACAACAAGAAACAAATTTATTAGCTAACCTAACCACTAATGACGCAAGAGACAATTCTAAGGACTTTCAAAACAGCAAAGTAGGAGCAGCTGCTACCTCTAGGGATGAGG___GATGCAATTGTCCAATTATTGGT(GAAATTGTCATTTCATGCTATTGGCTATTTGAAATTCCTCCTCTAAT___TTCAGAATAAATCACTGAAATTGACATCGGCCAGTCTGAATTTCAAGAAATTACCTGCTGAAGACAAGAGGGATCTCTTCTTCAGATTTGCAGTCTGGGGAAGACACAGCCTCTACTGTACTTTAGAACCTGAGATATGGTGGTGGAGGGAGCCCTGGGTCGAGTG___GTCAGAGCTCCGGACTCCAGCCCCATGCAACTTCAAAATATGACAAATGTCTTGAAGGGGAGATTGGCATGCAGATGAGGAAGGCCCTCTCGCCAACACATTTGTATTTCCTCTGTACTGTGAGACTGTGGGAGATTTACTGCGACATTTAGAAGCTTTCTTCCAAACTCCTGGGCCTCCGACACTGGTTCTAAACTCAGCAAATGTTCTTTGGGAAAAACAGACAGTGCATGTGAGGCCCCTCGAGTTTGGAATTTATGTCTCCAGCTTCACATGGTCTCTCAAGTGCTTATGCTTTTCTTCTCTCTGCCACCCACATTCCCACATCCCGCCCACCCCCCAACTTTCCTCCCTTCACCTTCCCATGGAGACTTTTTGCCTGGGCTAAATCTGATCCTCAGCCCACTCTCAGAATCGATAAATGCCCCTAGGTGATTGTAAGCTCACCTAAGATATACTTTTTCTCCTCTAGAATTTTAGTTTATTAGATTTTTCTAGTTGTCTTTGCAAAAGCGTTAACAGGCTCTGACTTCTGACATTCAACTAGATGTGGAATATCCAACCCCTAGCATTTCATGGAATGTACTGACCAAGATAAAATGTGTTCTTATTAAACAATGCCATTTCTTGACCACTTCTGTTTTTAGGAATTGTGGTATCTGAGTCATGGTGATTAGAAGTACTAATGAAATAAATGGGAAAATTAAACTTCTACTAACATTTCATATAGTAGGGAGATGTCTGTGAAGAATTATAACTGGTACAGATTTTGTGTTTATAAACAAGGAGACAGAAAATGCAGAAAATAAAAAATATTTTATTTAGTTTTAAA)$ MQKMESRGVELPSLWEKALKLIGPEKGVVHLATAAVLNAVWDLWAKQEGKPVWKLLVDMDPRMLVSCIDFRYITDVLTEEDALEILQKGQIGKKEREKQMLAQGYPAYTTSCAWLGYSDDTLKQLCAQALKDGWTRFKVKVGADLQDDMRRCQIIRDMIGPEKTLMMDANQRWDVPEAVEWMSKLAKFKPLWIEEPTSPDDILGHATISK|qqqetnllanlttndardnskdfqnskvgaaatsrdegcncpiigeiviscywlfeipplise* 05BR045 ENSG00000132199.20 ENSG00000132204.14 -/- -/- chr18:683246 chr18:1278633 CDS/splice-site exon/splice-site duplication 2 2 0 181 6 high out-of-frame . Enolase_C-terminal_domain-like(100%),Mandelate_racemase_/_muconate_lactonizing_enzyme__N-terminal_domain(100%)| . . ENSG00000132199.20 ENSG00000132204.14 ENST00000383578.7 ENST00000657423.1 upstream downstream . ^(CGCCCTCCCGCCGCGCGCTCGGGATCCCGACCAGTCCTGACCGCACGGGGGCCGCGGCCACGGGGCGCAGGGGCCATGGTGCGCGGCAGGATCTCCCGGCTCTCGGTCCGGGACGTGCGCTTCCCCACGTCGCTTGGGGGCCACGGCGCGGACGCCATG___CACACGGACCCTGACTACTCGGCTGCCTATGTCGTCATAGAAACTGATGCAGAAGATGGAATCAAGGGGTGTGGAATTACCTTCACTCTGGGAAAAGGCACTGAAGTTG___ATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAG___CCTGTCTGGAAGTTACTTGTGGACATG___GATCCCAGGATGCTGGTATCCTGCATAGATTTCAGGTACATCACTGATGTCCTGACTGAGGAGGATGCCCTAG___AAATACTGCAGAAAGGTCAAATTGGTAAAAAAGAAAGAG___AGAAGCAAATGCTGGCACAAGGATACCCTGCTTACACGACATCGTGCGCCTGGCTGGGGTACTCAGATGACACGTTGAAGCAG___CTCTGTGCCCAGGCGCTGAAGGATGGCTGGACCAG___GTTTAAAGTAAAGGTGGGTGCTGATCTCCA)GGATGACATGCGAAGATGCCAAATCATCCGAGACATGATTGGACCGGAAAAGACTTTG___ATGATGGATGCCAACCAGCGCTGGGATGTGCCTGAGGCGGTGGAGTGGATGTCCAAGCTGGCCAAGTTCAAGCCATTGTGGATTGAGGAGCCAACCTCCCCTGATGACATTCTGGGGCACGCCACCATTTCCAAG|GTAAGACACCCCTACTCTGTCCAGACCCAACTGTCAACAGAAGCCAAAGCCATCTGGAGGAGCATG___TTTCTTACAGCAACAACAAGAAACAAATTTATTAGCTAACCTAACCACTAATGACGCAAGAGACAATTCTAAGGACTTTCAAAACAGC(AAAGTAGGAGCAGCTGCTACCTCTAGGGATGAGG___GATGCAATTGTCCAATTATTGGTGAAATTGTCATTTCATGCTATTGGCTATTTGAAATTCCTCCTCTAAT___TTCAGAATAAATCACTGAAATTGACATCGGCCAGTCTGAATTTCAAGAAATTACCTGCTGAAGACAAGAGGGATCTCTTCTTCAGATTTGCAGTCTGGGGAAGACACAGCCTCTACTGTACTTTAGAACCTGAGATATGGTGGTGGAGGGAGCCCTGGGTCGAGTG___GTCAGAGCTCCGGACTCCAGCCCCATGCAACTTCAAAATATGACAAATGTCTTGAAGGGGAGATTGGCATGCAGATGAGGAAGGCCCTCTCGCCAACACATTTGTATTTCCTCTGTACTGTGAGACTGTGGGAGATTTACTGCGACATTTAGAAGCTTTCTTCCAAACTCCTGGGCCTCCGACACTGGTTCTAAACTCAGCAAATGTTCTTTGGGAAAAACAGACAGTGCATGTGAGGCCCCTCGAGTTTGGAATTTATGTCTCCAGCTTCACATGGTCTCTCAAGTGCTTATGCTTTTCTTCTCTCTGCCACCCACATTCCCACATCCCGCCCACCCCCCAACTTTCCTCCCTTCACCTTCCCATGGAGACTTTTTGCCTGGGCTAAATCTGATCCTCAGCCCACTCTCAGAATCGATAAATGCCCCTAGGTGATTGTAAGCTCACCTAAGATATACTTTTTCTCCTCTAGAATTTTAGTTTATTAGATTTTTCTAGTTGTCTTTGCAAAAGCGTTAACAGGCTCTGACTTCTGACATTCAACTAGATGTGGAATATCCAACCCCTAGCATTTCATGGAATGTACTGACCAAGATAAAATGTGTTCTTATTAAACAATGCCATTTCTTGACCACTTCTGTTTTTAGGAATTGTGGTATCTGAGTCATGGTGATTAGAAGTACTAATGAAATAAATGGGAAAATTAAACTTCTACTAACATTTCATATAGTAGGGAGATGTCTGTGAAGAATTATAACTGGTACAGATTTTGTGTTTATAAACAAGGAGACAGAAAATGCAGAAAATAAAAAATATTTTATTTAGTTTTAAA)$ MQKMESRGVELPSLWEKALKLIGPEKGVVHLATAAVLNAVWDLWAKQEGKPVWKLLVDMDPRMLVSCIDFRYITDVLTEEDALEILQKGQIGKKEREKQMLAQGYPAYTTSCAWLGYSDDTLKQLCAQALKDGWTRFKVKVGADLQDDMRRCQIIRDMIGPEKTLMMDANQRWDVPEAVEWMSKLAKFKPLWIEEPTSPDDILGHATISK|vrhpysvqtqlsteakaiwrsmfltattrnkfis* 05BR045 ENSG00000104324.16 ENSG00000156466.10(58378),ENSG00000156467.10(3763) +/+ ./+ chr8:96880005 chr8:96219184 CDS/splice-site intergenic duplication 5 3 0 132 7 high out-of-frame . Peptidase_family_M28(100%)| . . ENSG00000104324.16 . ENST00000220763.10 . downstream upstream mismatches(1) ^(CTCTCGGCCCCGCGGCCTGGCCGGCAAGCAGGGCTGCAGTCACGGGGCGGCGCGGAGGGCCCCAGCCCAGTCAGGGGTGTGGCCGCCGCCACCGTAAGGCTAGGCCGCGAGCTTAGTCCTGGGAGCCGCCTCCGTCGCCGCCGTCAGAGCCGCCCTATCAG___ATTATCTTAACAAGAAAACCAACTGGAAAAAAAAATGAAATTCCTTATCTTCGCATTTTTCGGTGGTGTTCACCTTTTATCCCTGTGCTCTGGGAAAGCTATATGCAAGAATGGCATCTCTAAGAGGACTTTTGAAGAAATAAAAGAAGAAATAGCCAGCTGTGGAGATGTTGCTAAAGCAATCATCAACCTAGCTGTTTATGGTAAAGCCCAGAACAGATCCTATGAGCGATTGGCACTTCTGGTTGATACTGTTGGACCCAGACTGAGTGGCTCCAAGAACCTAGAAAAAGCCATCCAAATTATGTACCAAAACCTGCAGCAAGATGGGCTGGAGAAAGTTCACCTGGAGCCAGTGAGAATACCCCACTGGGAGAGGGGAGAAGAATCAGCTGTGATGCTGGAGCCAAGAATTCATAAGATAGCCATCCTGGGTCTTGGCAGCAGCATTGGGACTCCTCCAGAAG___GCATTACAGCAGAAGTTCTGGTGGTGACCTCTTTCGATGAACTGCAGAGAAGGGCCTCAGAAGCAAGAGGGAAGATTGTTGTTTATAACCAACCTTACATCAACTACTCAAGGACGGTGCAATACCGAACGCAGGGGGCGGTGGAAGCTGCCAAGGTGGGGGCTTTGGCATCTCTCATTCGATCCGTGG)CCTCCTTCTCCATCTACAG___TCCTCACACAGGTATTCAGGAATACCAGGATGGCGTGCCCAAGATTCCAACAGCCTGTATTACGGTGGAAGATGCAGAAATGATGTCAAGAATGGCTTCTCATGGGATCAAAATTGTCATTCAGCTAAAGATGGGGGCAAAGACCTACCCAGATACTGATTCCTTCAACACTGTAGCAGAGATCACTGGGAGCAAATATCCAGAACAG|GCAGATTCTGAACCTGCGAGTATGTTAACCTACATGGAAAAAGGGACTGTGCAGATGTGATGCAGTCAAGGACCTTGAGATGGGGAGATTATCCTAAATTATTCACGTGGGC MKFLIFAFFGGVHLLSLCSGKAICKNGISKRTFEEIKEEIASCGDVAKAIINLAVYGKAQNRSYERLALLVDTVGPRLSGSKNLEKAIQIMYQNLQQDGLEKVHLEPVRIPHWERGEESAVMLEPRIHKIAILGLGSSIGTPPEGITAEVLVVTSFDELQRRASEARGKIVVYNQPYINYSRTVQYRTQGAVEAAKVGALASLIRSVASFSIYSPHTGIQEYQDGVPKIPTACITVEDAEMMSRMASHGIKIVIQLKMGAKTYPDTDSFNTVAEITGSKYPEQ|adsepasmltymekgtvqm* 05BR045 ENSG00000198945.8 ENSG00000146376.11 +/+ -/+ chr6:130094367 chr6:129687453 CDS/splice-site intron duplication/5'-5' 5 2 0 43 20 high out-of-frame . mbt_repeat(100%)| . . ENSG00000198945.8 ENSG00000146376.11 ENST00000361794.7 . downstream upstream . ^(GCACATGCGCATTGCGCCCGCAGCCCTGGACCATTTGTCAGGACTACTCGTGAGACGGAGAAAAAAAAAAGAGAAAATTTGGGG___AACCCTTAGGAGAAATCTTGAGAGTGGACAGCAATTGTGAAGATCGCCAGAGAGTTCTGTGTTTCATCACCGCCGAAAG___GTTAAAAAATAAATCATGACTGAATCTGCCTCTAGCACAAGTGGTCAAGAGTTTGATGTGTTCAGTGTTATGGACTGGAAAGATGGAGTGGGCACGTTACCAGGAAGTGACTTAAAG___TTTCGGGTAAATGAGTTTGGAGCCCTGGAAGTTATTACAGATGAGAATGAGATGGAAAATGTTAAAAAAGCAACTGCTACCACCACTTGGATGGTACCAACTGCTCAAGAAG___CCCCGACCTCTCCCCCGAGCTCCAGGCCCGTATTTCCACCTGCCTACTGGACATCTCCACCTGGATGTCCCACAG___TCTTTTCAGAGAAGACTGGGATGCCTTTCAGGTTGAAGGATCCAGTGAAAGTAGAAGGGCTTCAGTTCTGTGAGAACTGTTGTCAGTATGGCAACGTAGATGAGTGTCTTTCTGGAGGAAACTATTGCAGCCAGAATTGTGCTCGGCACATCAAAGATAA___AGATCAGAAGGAAGAAAGGGACGTAGAAGAAGACAATGAGGAAGAAGATCCTAAGTGTAGTCGGAAGAAAAAACCAAAATTATCTCTGAAAGCTGACACCAAGGAGGATGGAGAAGAGAGAGATGATGAAATG___GAGAACAAACAAGATGTAAGAATCCTGAGGGGTTCGCAGAGAGCACGGAGGAAAAGACGAGGGGATTCGGCTGTACTAAAGCAGG___GTTTGCCTCCTAAAGGAAAGAAAGCGTGGTGCTGGGCATCCTACCTGGAAGAGGAGAAAGCGGTGGCAGTGCCGGCGAAGCTGTTCAAGGAG___CATCAATCCTTTCCATATAACAAAAATGGATTCAAAGTTGGCATGAAATTAGAAGGCGTGGATCCTGAGCATCAGTCTGTGTACTGTGTCCTCACCGTCGCGGAG___GTTTGTGGATACCGGATAAAGCTTCACTTTGATGGGTATTCTGATTGCTATGACTTCTGGGTGAATGCAGACGCTCTGGATATCCACCCAGTTGGGTGGTGTGAGAAAACCGGCCACAAACTCCATCCTCCAAAAG___GGTATAAAGAAGAAGAATTCAATTGGCAGACCTATCTTAAGACATGTAAAGCTCAAGCTGCTCCTAAGTCATTATTTGAAAATCAGAATATA___ACAGTGATCCCATCGGGCTTTCGAGTTGGTATGAAGCTTGAGGCAGTAGACAAAAAGAATCCCTCATTCATCTGTGTTGCTACGGTAACAGATATGGTGGACAATCGTTTCCTGGTACATTTTGACAACTGGGATGAGAGCTATGACTATTG___GTGTGAAGCATCAAGTCCACATATTCATCCAGTTGGTTGGTGTAAGGAACATAGAAGAACCCTTATTACTCCACCAG___GTTATCCAAATGTGAAACATTTTTCTTGGGATAAATACTTAGAAGAAACCAATTCTTTACCTGCTCCTGCAAGAGCTTTCAAAGTG___AAACCTCCTCATGGATTCCAGAAAAAAATGAAGCTTGAGGTTGTAGACAAAAGGAACCCTATGTTTATTAGAGTAGCAACTGTGGCAGA)CACAGATGATCACCGGGTAAAA___GTTCACTTTGATGGCTGGAACAATTGCTATGATTACTGGATAGATGCAGATTCTCCTGATATTCACCCTGTAGGCTGGTGTTCAAAAACAGGACATCCCCTTCAGCCTCCTTTGA___GCCCCTTAGAATTAATGGAAGCTTCAGAACATGGTGGATGCTCAACCCCGGGATGTAAAGGGATTGGCCATTTCAAGAGAGCGAGACATCTGGGCCCTCACAG|GCACCAAGCAGGACTCATCAGGACACCTGGGCTCAGGCTCAAACCCTATCAAAGCAGGGCTGTACTGAGGACGCACCTTCATTCTCTTCCCAGAACAAGTGAAGGAAATAGGAGAG MTESASSTSGQEFDVFSVMDWKDGVGTLPGSDLKFRVNEFGALEVITDENEMENVKKATATTTWMVPTAQEAPTSPPSSRPVFPPAYWTSPPGCPTVFSEKTGMPFRLKDPVKVEGLQFCENCCQYGNVDECLSGGNYCSQNCARHIKDKDQKEERDVEEDNEEEDPKCSRKKKPKLSLKADTKEDGEERDDEMENKQDVRILRGSQRARRKRRGDSAVLKQGLPPKGKKAWCWASYLEEEKAVAVPAKLFKEHQSFPYNKNGFKVGMKLEGVDPEHQSVYCVLTVAEVCGYRIKLHFDGYSDCYDFWVNADALDIHPVGWCEKTGHKLHPPKGYKEEEFNWQTYLKTCKAQAAPKSLFENQNITVIPSGFRVGMKLEAVDKKNPSFICVATVTDMVDNRFLVHFDNWDESYDYWCEASSPHIHPVGWCKEHRRTLITPPGYPNVKHFSWDKYLEETNSLPAPARAFKVKPPHGFQKKMKLEVVDKRNPMFIRVATVADTDDHRVKVHFDGWNNCYDYWIDADSPDIHPVGWCSKTGHPLQPPLSPLELMEASEHGGCSTPGCKGIGHFKRARHLGPHr|hqaglirtpglrlkpyqsravlrthlhslprtsegnrr 05BR045 ENSG00000225313.5 ENSG00000142920.17 +/+ +/+ chr1:33307449 chr1:33093282 exon/splice-site CDS/splice-site duplication 1 5 0 14 69 high . . |Pyridoxal-dependent_decarboxylase__C-terminal_sheet_domain(100%),Pyridoxal-dependent_decarboxylase__pyridoxal_binding_domain(100%) . . ENSG00000225313.5 ENSG00000142920.17 ENST00000630229.1 ENST00000294517.11 downstream upstream duplicates(1) ^AACACGTAGTACATCACGCTCTGGCCCGCCATGAAGTGCTGCTCCGCCGTCTCCAGGAAGCGCTCCAGGTACTTCTCCAG|GATGGTTCTGTGCATTGCTACCGATGACTCCCACTCCCTGAGCTGCCTGAGCCTAAAGTTTGGAGTGTCACTGAAATCCTGCAGACACCTGCTTGAAAATGCGAAGAAGCACCATGTGGAGGTGGTGGGTGTGAG___TTTTCACATTGGCAGTGGCTGTCCTGACCCTCAGGCCTATGCTCAGTCCATCGCAGACGCCCGGC(TCGTGTTTGAAATGGGCACCGAGCTGGGTCACAAGATGCACGTTCTGGACCTTGGTGGTGGCTTCCCTGGCACAGAAGGGGCCAAAGTGAGATTTGAAGAG___ATTGCTTCCGTGATCAACTCAGCCTTGGACCTGTACTTCCCAGAGGGCTGTGGCGTGGACATCTTTGCTGAGCTGGGGCGCTACTACGTGACCTCGGCCTTCACTGTGGCAGTCAGCATCATTGCCAAGAAGGAGGTTCTGCTAGACCAGCCTGGCAGGGAGG___AGGAAAATGGTTCCACCTCCAAGACCATCGTGTACCACCTTGATGAGGGCGTGTATGGGATCTTCAACTCAGTCCTGTTTGACAACATCTGCCCTACCCCCATCCTGCAGAAG___AAACCATCCACGGAGCAGCCCCTGTACAGCAGCAGCCTGTGGGGCCCGGCGGTTGATGGCTGTGATTGCGTGGCTGAGGGCCTGTGGCTGCCGCAACTACACGTAGGGGACTGGCTGGTCTTTGACAACATGGGCGCCTACACTGTGGGCATGGGTTCCCCCTTTTGGGGGACCCAGGCCTGCCACATCACCTATGCCATGTCCCGGGTGGCCTG___GGAAGCGCTGCGAAGGCAGCTGATGGCTGCAGAACAGGAGGATGACGTGGAGGGTGTGTGCAAGCCTCTGTCCTGCGGCTGGGAGATCACAGACACCCTGTGCGTGGGCCCTGTCTTCACCCCAGCGAGCATCATGTGAGTGGGCCTCGTTCCCCCCGGAGAATCCCAGCGGGGCCTCAGAGATGCATCTGGGAGAGGTGGGGAAGATGGCAGGCAAGGGTACCCTTGGCCAGGACTCTGGTGCCCACCCTGCCACCCCCGCGCTCCACCTGCAGTGTTTCTGCCCTGTAAATAGGACCAGTCTTACACTCGCTGTAGTTCAAGTATGCAACATAAATCCTGTTCCTTCCAGCTGTGTCTGCCTCCTCTGCAGTGCAAGGGGCCTGGTCAGCCAGGTGTGGGGGTGTTCTTGGGGTCTCCTTTGGTCTCCTTCCCACCTTTGTAAATATAATGCAAATAAATAAATATTTAGGTTTTTAAAAACTGCAGCGGAATCTGGCAGTTTGATTCACAAAGCAGCCTGGGCTAGGCCTGGGGCAGGATTTCCCCATCACTCACTGATGAGCCCACACCCTCTGCTTTAGTCCTGAGCCCTGGCTGCAGCGTGTGCCTCCCCCACTAGTACTCACCTTATCTGACTCATCTCTCTCCTCCTCATGGGCCTCCAGGCCTGGTGCCATAAGGAAGGGGCTGCTGTCAGGGACTGAGATGGGCAGTTACGTAGCTCATAACTGGTGAATGGCCTTTGGGTCAGCCCAACACCCAGCTTAAGGCCTGGCCCAGAGTAGGGGCAATGGAGTATTTAACACAGCTGTGGAAATTCATACTGAAGATACAGAGCCAAGAAATGGGTGTGTGGGAGGTTTTGAGTGGACCCTGCACCCTTGCTCTCCCTGCAGGTTGGCAAGGCAGTCAGAGTAAAGCAGACACCTGGTGGTCGCTTTTGCTTCTTTGGGCAGTGCCTGTTAGAACAGGGCTGGCCACGGAGTATTGCTGTGTCCAGTGCCGACAGCCCTGGCATCCCCTGAGACTGGCAGTGCTTATCAGGACAAAGGCTCCTTCACACTGCCGGGTTCCCAAATTATGCCCCGGGGTGTGTGAGCTGTTGAGCAAAGGAGTTCAGATTTTAGAGTCCCCCTCAGTGGCTGCAGGGGACTCTAAATATTTTTCTGCTGCAATTAAAAGATTTGAGATGTAATTCATATGCAATCATCAAATTCACCCTTTTAAATGCAGAAGCCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTATGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACAGGGAGGTGGAGGTCGCAGTGAGCCGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACTGAGCGAGACCCTGCCTCAAATAAAGAAATAAATAAATAAAGTGGAGAAGTTAGTGGTTTCTGGTGTATTCAGAGTTGTGTAACCATCACCCTAGAAAGAAATCCCATACCCATTAGCAGTCACTCTCCATTTTTCCCATTCCCCAGTCCCTGATGACACAAATCTACCTTCCATCTCTATGGATTTGCTTATTCTGGACATTGTATTGTGATGGATTTTCTATCTTCACTTGAGCTTCTCTCTAGGTAAGCCTGACCATCCTGCTTCAGTATCTCAGCCAGTCCTGGTGGGAACTGTACGTGGCTTTGAGGTCATCTCATGAGGCAATGTGGCATGGGTTTGGAGTGAACGAGGTGCTTTCTCAAAGCCAGGGGTGTCTCCCTTTTCCAGGTGGGATCTAGTTTTCGGTATCTTGACAATAAATAGGCTGAAAGCTTGGGACATCAAAAGACTCAGGGCAATCAGAAAGGGTTACTCTACTACCCCGTGATCCATCAAAGCCACGATTTACAGGTATTACCATGCCAGTAATTGTCTATCAGACTCTGAGACTTCTTCCATCTCAGATCTCCAAGCACTCATACTTCTTTTGCGGAGAGGGACATAGGTTTTCTGCTGGAACCAGGCATCTGCTGTGAAAAGCGCAGGAATCCTGGGAAGATCTCATGGCTGGCTACAGTGAGACCCAGGTGTAGCTGATTCCCTCTTCTGAGCAAGTCCACTGAGGGGGCATTCTGTGGCTTTTGAAATGACAGTGGCTGTCATGGAGTTTGGATGGATTTCTCACTGGAGCCTTTCTAGTGTTTCATGTTCCATTTGCAGCAAGGATGTGAAATTTACTTTTCCAAGAAAGATACACGCAGAACTTGATGTGGCTTACTTGAGGATAATAGTTAATAGTCATTTTTTCCCAGTTATTTGTTTTTGTTTCTTATTTCAATCTTTTTCTAAAGAGAAGAAAAAAGCCTGAAATGTGGAGAATGGTAAGGGGCTTCAGGCTTGTGCAGGCGAATCTAAGCAGGGGTCTCCTGGACCCCTGGCTGCATGGGCACTGCCTCCTCCAAGCTCCCTGCTGAGCGACCCACTGGCAGTGGCTCCTCATGCCTCCTGGCTGCCTTGGAAGTCAGATGTTCCTGTTGGCCTATCACAGACCCATCCTTCCCTGGGGCATCACCTGAGGAACATCCTCTTCCCAATGCCTCCCTACAACCCACCTGTGCCTCCTGAAGCCCCTCCTGCGCGCACACTCACTCTCTCTCATTCTCTCCTTCAAGGAGTTAACAGATCTGAGCTTCCATCTTCTCATACTCAGGACTGGCCCCTTCTTCCCCTTTCCCCTCCACAGTCCATCCTCCACTCAGCAGCCAGATGCCGTACCTCCTGGGATTCCGTTTCACCAAGAATGAAATTTAAAGTCCTTGGCCAGCTGGCTCTCTGACTCCCACACTTCCCTCTCACGCACTGGGTCCTGGCCACACTGGCCTCCCCTCTGTTCTTCAAACACTCCACTGCTGGGCATGCATTTACTGTCCCCTCTCTAGAATGATCTTCCTGGGTTATCTGTGGGCCTCACTCACTTCATTCAGGTTCTGTGCAAATGTTTTCTTTAGGTGAAGCCTTCTGGATCACCCTTTAGAAAATAGCATGTCCTAGTCTCTCTCTTTTCTCTTAACTAGTTTTCTTTTTCTTCATAGTACCTACCACCACTCAACATACTCTATAACATAACTCCATAATGTGTTCCATAACACAAGGGCAACTGTCAGCCCTTCTAGAATGTGAGCTCTAGGCTCTTGGAATAAACCTGATTTATTTTTTCACTGCTGTGTCCTTATTACCTAGAACGGAGTAGGTGTTCAAAAAGTATATGCTGGATGGGCAAATGAATAAACATGTCTGAATCTGTCTGAATAAACATGCTCTTAACCTGTC)$ . 05BR045 ENSG00000134278.15 ENSG00000168675.18 -/- +/- chr18:12635062 chr18:13634549 CDS/splice-site intron duplication/5'-5' 2 4 0 45 16 high out-of-frame . Kinase_non-catalytic_C-lobe_domain(100%)| . . ENSG00000134278.15 ENSG00000168675.18 ENST00000409402.8 . upstream downstream duplicates(1),mismatches(1) ^(AGGCGGGGCGGGGCGGGGCGGGGCGCCGGACGCCATCGCGTCGCTACCGGCCGGCGGCTGTCTGACCGGGACTGCAGCCGTGTCCTCGCCGCCCTCCTCTTGCCCACGCCTCCCGGGCACTCGCCTGGTCCCGGCGGCGGCGCGCGCGGCCGCGTTGGGCGGCGGCGGTTCCGGGGATGGTGAGGCGGCGGCGCGCGACGACGATGCTCCGGAGCTGAGGAGACGCCGGCACACGGCGCGACTGCCGAGCGCAGCGCCCACCCGCGGGATGGCTCAGGCGGCTGGCCCGGCGGGCGGCGGGGAGCCGCGGACTGAGGCAGTGGGCGGCGAGGGGCCGCGGGAGCCCGGGGCAGCCGGCGGCGCGGCCGGGGGCTCCCGGGACGCGCTGAGCCTGGAGGAGATCCTGCGGCTGTACAACCAGCCCATCAACGAGGAGCAGGCGTGGGCCGTGTGCTACCAGTGCTGCGGTTCCCTGCGCGCCGCC)GCCCGCCGCCGCCAGCCCCGCCACCGTGTGCGCTCGGCCGCGCAGATCCGCGTCTGGAGGGACGGCGCCGTCACCCTGGCGCCCGCGGCCGACGACGCGGGAGAGCCGCCCCCAGTTGCGG___GTAAATTGGGATATTCACAATGTATGGAAACAGAG|CAATGCTTTCTATTGCTCAGTGCACAAGTCTTTCACCTCCTTGG___CCTCTCCACCATCCTGATATTTTATCACTACCGTCCTTTCCACTCTAGATGGCAGTCACAGCCTGGATGTGAGGCCAGTACCCCTGGCTGTCAGAGACTGCACCTCCCCCTTTCTTCCTCCTGGGGAATCCATCATCAGACTTCTCAGATTCAAGATCCCCC MAQAAGPAGGGEPRTEAVGGEGPREPGAAGGAAGGSRDALSLEEILRLYNQPINEEQAWAVCYQCCGSLRAAARRRQPRHRVRSAAQIRVWRDGAVTLAPAADDAGEPPPVAGKLGYSQCMETE|qcflllsaqvfhllglstilifyhyrpfhsrwqsqpgceastpgcqrlhlplssswgihhqtsqiqdp 05BR045 ENSG00000101294.18 ENSG00000180424.7 +/+ +/+ chr20:31514734 chr20:31450029 CDS/splice-site CDS/splice-site duplication 3 3 0 93 34 high out-of-frame . |Beta_defensin(100%) . . ENSG00000101294.18 ENSG00000180424.7 ENST00000335574.10 ENST00000376309.4 downstream upstream . ^(GTGCGCGGCGCGGGCTTGGGAGGGAGCACGTCACTTCCTGTTGCCTTAGGGGAAC)GTGGCTTTCCCTGCAGAGCCGGTGTCTCCGCCTGCGTCCCTGCTGCAGCAACCGGAGCTGGAGTCGGATCCCGAACGCACCCTCGCCATGGACTCGGCCCTCAGCGATCCGCATAACGGCAGTGCCGAGGCAGGCGGCCCCACCAACAGCACTACGCGGCCGCCTTCCACGCCCGAGGGCATCGCGCTGGCCTACGGCAGCCTCCTGCTCATGGCGCTGCTGCCCATCTTCTTCGGCGCCCTGCGCTCCGTACGCTGCGCCCGCGGCAAG|GTGGCACCCAAAGATGCTGGAATCTTTATGGCAAATGCCGTTACAGATGCTCCAAGAAGGAAAGAGTCTATGTTTACTGCATAAATAATAAAATGTGCTGCGTGAAGCCCAAGTACCAGCCAAAAGAAAGGTGGTGGCCATTTTAACTGCTTTGAAGCCTGAAGCCATGAAAATGCAGATGAAGCTCC(CAGTGGATTCCCACACTCTATCAATAAACACCTCTGGCTGA)$ MDSALSDPHNGSAEAGGPTNSTTRPPSTPEGIALAYGSLLLMALLPIFFGALRSVRCARGK|vapkdagifmanavtdaprrkesmfta* 05BR045 ENSG00000237947.1(310454),ENSG00000124602.10(1078) ENSG00000112782.19 ./- -/- chr6:41025817 chr6:45881188 intergenic CDS/splice-site duplication 1 4 0 6 7 high . . . . . . ENSG00000112782.19 . ENST00000644878.1 upstream downstream duplicates(2) AAACACTGCGTTTGTGATTTCTGCTTTTTCACATGTTGCAGAGGCCCACGTCTACACTTCCTCCTGCTGGATTTGGAGTCTGGGGAAAGGCGATGGGGAAATGAAAGG|CTTTCTTTTTGTTGAAAAAAAGGGGGCATGGAGTAGAGGAAGAAGCAAGCAGAAGAAATGGGGAGAAGCTAGAGAAAGAAGAAAAAAATGGGATTCTTTCTACTGAAATTTCTAAATGTGGAACTCATTGTCTGTACTGGCTTTGAGGCAGAAAAAAAAACCTAAGAGTTTAAATATTTGTTGAAGTCTGGATTTCTCCCTGCACCCGTCCCCCCATTCCCTCTAGTAAAATTAAAGCTGAAGCTAGCAGTTCATGTCTAGCTCTTGAAATGTCACCGGC(AACACTGCTATTATTCTGATTTTCTGGGCAACGCCCGTCGGTTCCCTGCTGCAGTTCAATTAAACTAACTCTGCCTCTCTCA)$ . 05BR045 ENSG00000160551.11 ENSG00000076382.17 +/+ -/+ chr17:29502723 chr17:28578269 CDS/splice-site CDS duplication/5'-5' 3 2 0 14 235 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000160551.11 ENSG00000076382.17 ENST00000261716.7 . downstream upstream . ^(CTTACCAGGGGTGGTGTTGGTGGCGGAGGGCTGCGCGTGGGCCCGCCCGCCGAGGGGCCGCGGCGGGGGACCGAGAGGGCCTCGGCTGTGTGAGGACTAGAGGCGGCCGAGGCCCGGGCCGGTTCCCCCGAGGCGGCGACGGAGACGGCTCCCGGCACTTCCCCGCGCCATCTTAACTGAGCCCAAGCGCTGAGGGCGCCTCCTCGACCCCGGTCGTCCCCTCGCCCCCCCCCCCACCCCCCGCCGCCGCCGCCCCTTGTTGCAGAGCTTGGGCTGGGCGGCTTGCTGGGGCTCGGGGGTGGGGGGCGGCGATCTGTCGCCGGGCCCCCTCCTCCTCCTCACTCCTCACCCTCCAGGGTAGCGGCTACCGGAGCGCTGCAGGGGGCTGCGCCTGCCTGCTCCGCCCCAGACCTGTCGGCGAAAGG___TAGTTTATGCCAACGTGACTTCATTCATACAGATGAACCAAGGATCGGGATAGCAGTATAAAATTAGAATCAAGACAGCTGACTGCTCAGCAGGATGCCATCAACTAACAGAGCAGGCAGCCTGAAGGACCCTGAAATTGCAGAGCTCTTCTTCAAAGAAGATCCAGAGAAGCTCTTCACAGATCTCAGAGAAATTGGCCATGGAAGCTTTGGAGCAGTGTATTTT___GCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAG___AAATGGCAGGATATTATTAAGGAAGTCAAGTTTCTACAAAGAATAAAACATCCCAACAGTATAGAATACAAAGGCTGTTATTTACGTGAACACACAGCATGG___CTTGTAATGGAATATTGTTTAGGATCTGCTTCGGATTTACTAGAAG___TTCACAAAAAGCCATTACAAGAAGTGGAAATAGCAGCAATTACACATGGTGCTCTTCAGGGATTAGCCTACTTACATTCTCATACTATGATTCATAG___AGATATCAAAGCAGGAAATATCCTTCTGACAGAACCAGGCCAGGTGAAACTTGCTGACTTTGGCTCTGCTTCCATGGCATCACCTGCCAATTCCTTTGTGGGAACGCCGTATTG___GATGGCCCCAGAAGTAATTTTAGCCATGGATGAAGGACAATATGATGGCAAAGTAGATGTGTGGTCTCTTGGAATAACATGTATTGAACTAG___CGGAAAGGAAGCCTCCTTTATTTAATATGAATGCAATGAGTGCCTTATATCACATAGCCCAAAATGAATCCCCTACACTACAGTCTAATGAATG___GTCTGATTATTTTCGCAACTTTGTAGATTCTTGCCTCCAGAAAATCCCTCAAGATCGACCTACATCAGAGGAACTTTTAAAG___CACATATTTGTTCTTCGGGAGCGCCCTGAAACCGTGTTAATAGATCTCATTCAGAGGACAAAGGATGCAGTAAGAGAGCTGGACAATCTGCAGTATCGAAAGATGAAGAAACTCCTTTTCCAGGAGGCACATAATGGACCAGCAGTAGAAGCACAGGAAGAAGAAGAG___GAACAAGATCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGGAAGTAATCAATCCATTCCCAGCATGTCCATCAGTGCCAGCAGCCAAAGCAGTAGTGTTAACAGTCTTCCAGATGTCTCAGATGACAAGAGTGAGCTAGACATGATGGAGGGAGACCACACAGTGATGTCT)AACAGTTCTGTTATCCATTTAAAACCA___GAGGAAGAAAATTACAGAGAAGAGGGAGATCCTAGAACAAGAGCATCAGATCCACAATCTCCACCCCAAGTATCTCGTCACAAATCACACTATCGTAATCGAGAACACTTTGCTACTATACGGACAGCATCACTG|GAACATCACTCTCAGTTTGTCCACCTAGAAATATGTCCAGATCAACAGGGGTACAGCCTGGGGTCCCCACCTGCTGTCCAGCTCCTCTGTTAACTCTGAG MPSTNRAGSLKDPEIAELFFKEDPEKLFTDLREIGHGSFGAVYFARDVRTNEVVAIKKMSYSGKQSTEKWQDIIKEVKFLQRIKHPNSIEYKGCYLREHTAWLVMEYCLGSASDLLEVHKKPLQEVEIAAITHGALQGLAYLHSHTMIHRDIKAGNILLTEPGQVKLADFGSASMASPANSFVGTPYWMAPEVILAMDEGQYDGKVDVWSLGITCIELAERKPPLFNMNAMSALYHIAQNESPTLQSNEWSDYFRNFVDSCLQKIPQDRPTSEELLKHIFVLRERPETVLIDLIQRTKDAVRELDNLQYRKMKKLLFQEAHNGPAVEAQEEEEEQDHGVGRTGTVNSVGSNQSIPSMSISASSQSSSVNSLPDVSDDKSELDMMEGDHTVMSNSSVIHLKPEEENYREEGDPRTRASDPQSPPQVSRHKSHYRNREHFATIRTASL|ehhsqfvhleicpdqqgyslgsppavqllc* 05BR045 ENSG00000007047.15 ENSG00000069399.15 +/+ +/+ chr19:45266281 chr19:44759814 CDS/splice-site 3'UTR duplication 3 2 0 71 364 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000007047.15 ENSG00000069399.15 ENST00000262891.9 ENST00000164227.10 downstream upstream duplicates(1) ^(CTCCCTCCCCAGCCCCTCCACCGCCTCCCTCCGCCGCCGCTTGGGCCGGCTCCGCGCCCCCTCCGCGGCCCCCGCCCGCCCGCCTGCCCGCCGCCCCCATGGCGCCCGGGGTCCCCGCTGCACGGGGCCACTAGGACCCTCGGCGTCCCTTCCCCTCCCCCGCCCTGCCCCCTCTCCCGCCGCGCGGACCCGGGCGTTCTCGGCGCCCAGCTTTTGAGCTCGCGTCCCCAGGCCGGCGGGGGGGGAGGGGAAGAGAGGGGACCCTGGGACCCCCGCCCCCCCCACCCGGCCGCCCCTGCCCCCCGGGACCCGGAGAAGATGTCTTCGCGGACGGTGCTGGCCCCGGGCAACGATCGGAACTCGGACACG___CATGGCACCTTGGGCAGTGGCCGCTCCTCGGACAAAGGCCCGTCCTGGTCCAGCCGCTCACTGGGTGCCCGTTGCCGGAACTCCATCGCCTCCTGTCCCGAGGAGCAGCCCCACGTGGGCAACTACCGCCTGCTGAGGACCATTGGGAAGGGCAACTTTGCCAAAGTCAAGCTGGCTCGGCACATCCTCACTGGTCGGGAG___GTTGCCATCAAGATTAT)CGACAAAACCCAGCTGAATCCCAGCAGCCTGCAGAAG___CTGTTCCGAGAAGTCCGCATCATGAAGGGCCTAAACCACCCCAACATCG___TGAAGCTCTTTGAGGTGATTGAGACTGAGAAGACGCTGTACCTGGTGATGGAGTACGCAAGTGCTG___GAGAAGTGTTTGACTACCTCGTGTCGCATGGCCGCATGAAGGAGAAGGAAGCTCGAGCCAAGTTCCGACAG___ATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAG|GACTCTGACCCCAGCATTCTCAGGCACCAGTCCCTGTCCGGAATGCCACCCACATCTTCCATTTCCATGTCCCCTCCCAGAGCTGGTGGACCCAGGGAACAGCCACTCCCCTCCACTCTCTACCAGATAACTGAGGAGGGGAGAGGTGGGCCGTAACGGGCACGGATCACGATGTAAATTATTAAGCATTTTGGTTGGATTTCTTTTGTAATAAACTATTTTTGTA(CCATA)$ MSSRTVLAPGNDRNSDTHGTLGSGRSSDKGPSWSSRSLGARCRNSIASCPEEQPHVGNYRLLRTIGKGNFAKVKLARHILTGREVAIKIIDKTQLNPSSLQKLFREVRIMKGLNHPNIVKLFEVIETEKTLYLVMEYASAGEVFDYLVSHGRMKEKEARAKFRQIVSAVHYCHQKNIVHRDLK|dsdpsilrhqslsgmpptssismsppraggpreqplpstlyqiteegrggp* 05BR045 ENSG00000148358.19 ENSG00000160401.15 +/+ +/+ chr9:130127566 chr9:127710601 CDS/splice-site CDS/splice-site duplication 2 2 0 53 12 high out-of-frame . Lung_seven_transmembrane_receptor(100%)| . . ENSG00000148358.19 ENSG00000160401.15 ENST00000347136.10 ENST00000373295.7 downstream upstream duplicates(3),mismappers(1) ^(ATTATTGCAACCATTTCGCTTGTATTTGAGTGTGAAGCGCCTAGAAAACCACAGGACCCCTACGGCGAGCCGGGAATTTTTAGATATTTTCCTCCGAGTCAACGCTCAGTGAAATCAGTTCAATCAGTGGCCCGACACCGTGCGGCTGACACAGCTTATCCCCCGACCCTGAGATCAGGGGTCCCCGGAGCCCAAGGTCGCTTCCAAAGCTCAGCGAGGCGGAGGTGCGGCCCGGGCTGGTCTGGTTCGGCCACCGTTGTTATGGCAACCGCCAATAGGTTGGCTTCATCTCTAACTGAAAGTCTGCACAGGAGCGGCCGATCGAAGGGCCCCGAGGTGGGCAGCACAGGCTCCTCGACGACTTCCTAGGTCGCAATCTCCAGGAAAACGACCACAGGGTCAGCGGAGCTAGCCGCCGAGCCCCGCTCCCCGGGCCCTTCCGGCGGCTGCGCCCTTTCACCCCGGACGTGGGCGGGAGAGGAAGCGGCTGGTGATGCTGGAACAAACATGGCCGCTCTGGCGCCCGTCGGCTCCCCCGCCTCCCGCGGTCCTAGGCTGGCCGCGGGCCTCCGGCTGCTCCCAATGCTGGGTTTGCTGCAGTTGCTGGCCGAGCCTGGCCTGGGCCGCGTCCATCACCTGGCACTCAAG___GATGATGTGAGGCATAAAGTTCATCTGAACACCTTTGGCTTCTTCAAGGATGGGTACATGGTGGTGAATGTCAGTAGCCTCTCACTGAATGAGCCTGAAGACAAGGATGTGACT___ATTGGATTTAGCCTAGACCGTACAAAGAATGATGGCTTTTCTTCTTACCTG___GATGAAGATGTGAATTACTGTATTTTAAAGAAACAGTCTGTCTCTGTCACCCTTTTAATCCTAGACATCTCCAGAAGTGA___GGTAAGAGTAAAGTCTCCACCAGAAGCTGGTACCCAGTTACCAAAGATCATCTTCAGCAGGGATGAGAAAGTCCTTGGTCAGAGCCAGGAGCCTAATGTTAACCCTGCTTCAGCAGGCAACCAGACCCAGAAGACACAAG___ATGGTGGAAAGTCTAAAAGAAGTACAGTGGATTCAAAG___GCCATGGGAGAGAAATCCTTTTCTGTTCATAATAATGGTGGGGCAGTGTCATTTCAG___TTTTTCTTTAACATCAGCACTGATGACCAAGAAGGCCTTTACAGTCTTTATTTTCATAAATGCCTTGGAAAAGAATTGCCAAGTGACAAGTTTACATTCAGCCTTGAT___ATTGAGATCACAGAGAAGAATCCTGACAGCTACCTCTCAGCAGGAGAAATTCCTCTCCCCAAATTATACATCTCAATGGCCTTTTTCTTCTTTCTTTCTGGGACCATCTGGATTCATATCCTTCGAAAACGACG___GAATGATGTATTTAAAATCCACTGGCTGATGGCGGCCCTTCCTTTCACCAAGTCTCTTTCCTTGGTGTTCCATGCA___ATTGACTACCACTACATCTCCTCCCAGGGCTTCCCTATCGAAGGCTGGGCTGTTGTGTACTACATAACTCACCT___TTTGAAAGGGGCGCTACTCTTCATCACCATTGCACTCATTGGCACTGGCTGGGCTTTCATTAAGCACATCCTTTCTGATAAAGACAAAAAGATCTTCATGATTGTCATTCCACTCCAG___GTCCTGGCAAATGTAGCCTACATCATCATAGAGTCCACCGAGGAGGGCACGACTGAATATGGCTTGTGGAAGGACTCTCTATTTCTGGTCGACCTGTTGTGTTGTGGTGCCATCCTCTTCCCAGTGGTGTG___GTCAAT)CAGACATTTACAAGAAGCATCAGCAACAGATGGAAAAG___CTGCTATTAACTTAGCAAAGCTGAAACTTTTCAGACATTATTACGTCTTG___ATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAG|GGGGGAAGCTGGCAGCCCTGGAGGAGTTCCGGCTGCAGAAAGAGGAGGTCACGGACAAGTTCACATTGCTGGAGGAGCAGGTGCGGAAGCAGGAGAATGAGTTCAGGGACTATGCATACAACCTGGAGAAGAAGTCGGTGCTGGACAAGGACAG___ACTGAGGAAAGAGATCATCCAGCGCGTGAACCTCGTGGC(CAATGAGTTCCACAAGGTGACCACGAACCGGATGTGGGAGACAACCAAGCGGGCCATCAAAGAGAACAACGGCATTACCCTGCAGATGGCCAGGGTCTCCCAGCAAGGCATGAAGCTGCTGCAGGAGAATGAGCAGCTCAAGGGAAGACAGAACAATCTGTGCAAACAGCTGGAGCTGCTGGAGAACACCCAGAAGGTCATGGCCAGGCACAAAAGAGGCCACCAGAAG___ATCATCCTCATGCTGACTAAGAAGTGCCAGGAGCAGCAGCAGGACACCAAGGAGGCCGAGGAGCTGCGCCTCCTGCTGAGCCAGTTGGAGCAGAGATCCCTGCAGCTGCAGGTGGATAACCAGGCACTGAA___GAGCCAGAGAGACCAGCTGAGCCTGCAGCTGGAGCAGCAGCAGGTGGATTTGCAGCGGCTACAGCAGGAACTGGCTAATGAGCAGAAGGTTCGGGCCAGCCTGGAGGCGGCTCTGGTCCAGGCCACCTCCTTCCTACAGAACATTCTGCAG___ATGCACCGCGATGAAGAGGACAGTGACGTTGACGTGACGTTCCAGCCATGGCACAAGGAGATGCTGCAGCAACTGCTGGTCATGCTCAGCTCCACTGTGGCCACGAGACCTCAGAAGGCTGCGTGTCCCCACCAGGAGTCACAGTCCCATGGCCCACCCAAGGAGAG___CCGGCCCAGCATCCAGCTGCCCAGGACTGGGTCTCTGCTGCCGCAGCTCTCTGACATCACCCCCTACCAGCCGGGGGATCTAGGCCTGGTACCTCGCCAGGTCCACATCCCACCCAACCCCCAGGACCTCAGGCTGCTGTCATATATCACCCGTGTGGGGACCTTCCGGGCACACAGCAGCCCTGAG___ATGCGTGCCCCTGGTTCTCTAAAAAGGCTTGAAAAGTTTAGTCTTCCTGAAGTTCCCCTACGTCCCAAGTAGGACACAGAGAGAAGAACCTACTCCAGAAATGGACTGGTCCAGTCACAGTCACCCCCACTTTAATCCGCAGGCAGCCTGGAACAGTCTAGAGGAGATTTGTATAAAAAGTAGATACCAAGGCTGGCGTGGCAGCTCTGTGGCAGTGGCTGGGTTGGTGGGCACTACAGTCAGGCAGGCAGCCATGGCCACTAGTGTCACGGCCCCAGTGAGGGCCCCTGGCTTCGCTCACGGATGTGGTCCAAGATCAGGTCGGTGGCTCGATCCAGCAACAGAGGCAGCAGCTCCTGCTCAGCAGGGGAGAAGCAGCCCAGCACATGGGCCTGAACCGCCTCAGGGTGCGCCGGGCGCCCGATACCCACCCGCAGCCTTGGCATTGCCTGTGGGAGAGCCAGAGAGGCCCAGGAAGCTTTGGCGAGGTGCTGGGGGACCCCTGGCCCACCCGACCCAGTTGCACAACAAAAGGGTAGACTCACATTGGAGTTGAGGCAGCTAATGCAGGAACGGACTCCATTGTGGCCCCTTCAAGGGATATGGGAGGGGCAGTTAGTGCCTCCCTGGGGCAGTGTCCTTCCACCCCTCCCTGCCCCGGCTGGGTCAGAGCAGCCCATTTCCTGTGGAGACTGGGTCAGCAGCCCTACTCCACCCCAACTGGGAGGCCTGAAGCCCTATCCCAACCCTGACCATCTCAGGACCTCACCTGGCACTGCCCCCCAGCTTCAGAGCCAGTCTCCCCAGGGGCTTGTCCAGCTCATCATGCACCAGGTAGACTTCCTCGGCAGTCAGCCCAAACAGCTCCGCTTAGCACAGGGAAACGGCAGCCCTGGTTACTGCCCATCTGCCCAGAGAGGCACTGTCCCGACTCCCATGATGAGGGACCACAACTAATCCCACTTCACATATAAAGAAACTGAGGCCCCCCGAAGTACCCAAAGCCATGCAGCAACTGGAGCTCAACAGGTACTTGGAGGTGAACCCGCGGATCTGTCACAGCCAGTGCTCCCCTCTGGCCCCCGCGCCCCAACCCCCACCCCCTTGGCCCGCCCGCCCACCCCTGGCGCTCTCAACTCACCAGCCCGGGCCACGCTGCGCCCGTTGGCGTTCATAAGCCGCCGTGGCCGGAGCAGGACCAGTTGGGCATCCCCCAGCGGGGCCAGGGCGAGGTCGGCGGCACAGTGCCGGTCGCGCGTCCAACTCTCCGCCACACCCAGCCGCCGCGCCAGCTGCCCCAGCACCGCCATGCCCACGCTGTGTCGCGTGCCGGGCAGTCCGGGATTCCCCAGGCCAGCCACCTGCGGGCGGCACCAGGGAAACTGAGGCCCAACAACTCTCGCCACCCCCGATCTCACAGCGTCCCGTGGGCCCCAACGCAGAGGAGCGGAAACGCAGAGCAACGCTGCAGTGGGGAAGGGGCGCGAAGAAGGGGCCCAGAAACCCGACCCCTGAGAACTCCAGAAGGCTGGGCAGGCAGGGCGCCCTAGTGCAGGAACGGAGCTTCAAGAAGTTTGGAGCCCGTCGAGCACTGAACTCACCAGTTAAGAAAACAGAGCAGCAATTTGGGGGCACTCGGCTCCCGGGACATAATGGCCGAACTGAAGCTAGGGACCGGGAGCCCCTACGTCGCCGCCCCACGCCACTCACCATCCACCGCTTCCCCGGGGGGCGAGGCTCCAAAACACATCGGCTCATGGCTCTACTCAGCCGCTGTCCGGCGCCCAAAAAGCCGCCCGGCCTCATGCTGCCCCCATTCACTCCGACACCGCCCCCTGACGTCATCACCCCGCAGCAGCCAATCGTGTTGCCAACTGTTTGGCGTCCACCGCCAACGTCCAATCCGGGCCGGGCTACGTGGCCGCCATGCTTCTGAGGGGCGGAAGCGGCGAGGCGGTGGCCGAGTCCGGGAACCCAGGCGCCTTCAGTAGCGCGGCGTCACAGTGTCCCTTCGGGACTTGTGTGGGACGCTCGGAGCTCTTGCTTGACCTTCGGTTGGGAGGCCTTGTTATGCCCCCCGCTATGGCCCTGACTTGCGGCGAAAATCTGGCAAGTCCTTTCCCCGCTGTAGGCCTCAACCTCTCCAGCTAATAAAAGTTTTCTACCTCC)$ MAALAPVGSPASRGPRLAAGLRLLPMLGLLQLLAEPGLGRVHHLALKDDVRHKVHLNTFGFFKDGYMVVNVSSLSLNEPEDKDVTIGFSLDRTKNDGFSSYLDEDVNYCILKKQSVSVTLLILDISRSEVRVKSPPEAGTQLPKIIFSRDEKVLGQSQEPNVNPASAGNQTQKTQDGGKSKRSTVDSKAMGEKSFSVHNNGGAVSFQFFFNISTDDQEGLYSLYFHKCLGKELPSDKFTFSLDIEITEKNPDSYLSAGEIPLPKLYISMAFFFFLSGTIWIHILRKRRNDVFKIHWLMAALPFTKSLSLVFHAIDYHYISSQGFPIEGWAVVYYITHLLKGALLFITIALIGTGWAFIKHILSDKDKKIFMIVIPLQVLANVAYIIIESTEEGTTEYGLWKDSLFLVDLLCCGAILFPVVWSIRHLQEASATDGKAAINLAKLKLFRHYYVLIVCYIYFTRIIAFLLKLAVPFQWKWLYQ|ggswqpwrssgcrkrrsrtsshcwrsrcgsrrmssgtmhttwrrsrcwtrtd* 05BR045 ENSG00000165959.12 ENSG00000258630.3(63337),ENSG00000176438.12(8434) -/- ./- chr14:95221691 chr14:95398832 CDS/splice-site intergenic duplication 3 1 0 7 1 high out-of-frame . Calponin_homology_(CH)_domain(100%)| . . ENSG00000165959.12 . ENST00000298912.9 . upstream downstream . ^(GCGACTCCAGCTCCGCGGCGCCCTCGCCGGGTGCGTGCCGCTCGCGCGCCCGCCAGCCAGGCTCTCCGCGCCCGCCGCCCGCGCCGCGCTGGCCCGGGCTCTCCCGCCCGCGCTTCATGGCTGCACACGAGTGGGACTGGTTCCAACGCGAGGAGCTCATCGGGCAGATTAGCGACATCCGAGTGCAGAACCTGCAAG___TTGAGAGGGAAAATGTGCAGAAGAGGACCTTTACACGATGGATAAATCTACATCT)AGAAAAG___TGCAACCCACCTCTAGAAGTTAAAGATTTATTCGTCGATATACAAGATGGCAAAATCCTAATGGCTTTGTTAGAAGTCCTGTCTGGGCGGAATCTG___CTGCACGAATACAAATCCTCGTCGCATCGTATTTTTCGGTTGAACAACATAGCGAAAGCACTTAAGTTTTTGGAAGATAGCAAT|AAGCGTTTGTCAACTCATGCTCAAGGACATCGCTCGTGCAGTTTCCCACCTGATTAATCCATGTAGCCAAGCTGTCCATCCCCAAATCCCAGCAAGGTCCTTCCCTATGACCAGCTCCCCAGCAG MAAHEWDWFQREELIGQISDIRVQNLQVERENVQKRTFTRWINLHLEKCNPPLEVKDLFVDIQDGKILMALLEVLSGRNLLHEYKSSSHRIFRLNNIAKALKFLEDSN|krlsthaqghrscsfppd* 05BR045 ENSG00000078674.17 ENSG00000253496.3(17885),ENSG00000078579.9(59252) +/+ ./+ chr8:17972687 chr8:16932929 CDS/splice-site intergenic duplication 3 1 0 94 18 high out-of-frame . . . . ENSG00000078674.17 . ENST00000327578.9 . downstream upstream duplicates(4) ^(CTCCAGTCTAGCTCGCATTGCGGCTCCCGCCCGGGCGAGTTCTCGCCCCCGCGCGGCCGTTGCCGAGGAGACGGCGCATGTCCCGCCGCGCGTTGCCCCCTCTGCAGTACCCCCGCCCCTCTTCTCCCACCACAATGAGATCCTAAGATGGCGGTGGCTGCGGCGGTTGGCGCTGCGTAGCTGAGGTCGAAAAGGCGGCCACTGGGGCCGAGGCAGCCAGGAAACGTGTGGGCCTCTCTGCTGCGGTCTCCGAGGGCCGACCGCTGCCGGCGGCGGGTCGTGGGGGCTGACTGTCGCTCTGCCTTTGACAGGAGAGGCTGCTTCTTGTAGAG___GAAACAGCTTTGAAGTGTGGAGCGGGAAAGGAGCAGTTTCTGAGCTGCAAAAACTAGTTTCTAAACAG___AGAGTTAATTGTTAAATCCAGTATGGCCACAGGAGGAGGTCCCTTTGAAGATGGCATGAATGATCAGGATTTACCAAACTGGAGTAATGAGAATGTTGATGACAGGCTCAACAATATG___GATTGGGGTGCCCAACAGAAGAAAGCAAATAGATCATCAGAAAAGAATAAGAAAAAGTTTGGTGTAGAAAGTGATAAAAGAGTAACCAATGATATTTCTCCGGAGTCGTCACCAGGAGTTGGAAGGCGAAGAACAAAGACTCCACATACGTTCCCACACAGTAGATACATGAGTCAGATGTCTGTCCCAGAGCAGGCAGAATTAGAGAAACTGAAACAGCGGATAAACTTCAGTGATTTAGATCAG___AGAAGCATTGGAAGTGATTCCCAAGGTAGAGCAACAGCTGCTAACAACAAACGTCAGCTTAGTGAAAACCGAAAGCCCTTCAACTTTTTGCCTATGCAGATTAATACTAACAAGAGCAAAGATGCATCTACAAACCCCCCAAACAGAGAAACGATTGGATCAGCACAGTGTAAAGAGTTGTTTGCTTCTGCTTTAAGTAATGACCTCTTGCAAAACTGTCAGGTGTCTGAAGAAGATGGGAGGGGAGAACCTGCAATGGAGAGCAGCCAG___ATTGTAAGCAGGCTTGTTCAAATTCGCGATTATATTACTAAAGCTAGTTCCATGCGGGAAGATCTTGTAGAGAAAAATGAGAGATCTGCTAATGTTGAGCGCCTTACTCATCTAATAGATCACCTTAAAGAACAAGAGAAGTCATATATGAAATTTCTTAAAAAAATCCTT___GCCAGAGATCCTCAGCAGGAGCCTATGGAAGAGATAGAAAATTTGAAGAAACAACATGATTTATTAAAAAGAATGTTACAACAGCAGGAGCAACTAAGAGCTCTACAGGGACGGCAGGCTGCACTTCTAGCTCTGCAACATAAAGCAGAGCAAGCTATTGCAGTGATGGATGATTCTG___TTGTTGCAGAAACTGCAGGTAGCTTATCTGGCGTCAGTATCACATCTGAACTAAATGAAGAATTGAATGACTTAATTCAGCGTTTTCATAATCAGCTTCGTGATTCTCAG___CCTCCAGCTGTTCCAGACAATAGAAGACAGGCAGAAAGTCTTTCATTAACTAGGGAGGTTTCCCAGAGCAGGAAACCATCAGCTTCAGAACGTTTACCTGATGAGAAAGTCGAACTTTTTAGCAAAATGAGAGTGCTACAGGAAAAGAAACAAAAAATGGACAAATTGCTTGGAGAACTTCATACACTTCGAGATCAGCATCTTAACAATTCATCAT___CCTCTCCACAAAGGAGTGTCGATCAGAGAAGTACTTCAGCTCCCTCTGCTTCTGTAGGCTTGGCACCGGTTGTCAATGGAGAATCCAATAGCCTCACATCATCTGTTCCTTATCCTACTGCTTCTCTAGTATCTCAGAATGAGAGTGAAAACGAAGGCCACCTCAATCCATCTGAAAAACTCCA___GAAGTTAAATGAAGTTCGAAAGAGATTGAATGAGCTAAGAGAATTAGTTCATTATTATGAACAAACGTCAGACATGATGACAGATGCTGTGAATGAAAACAGGAAAGATGAAGAAACTGAAGAGTCAGAATATGATTCTGAGCATGAAAATTCCGAGCCTGTTACTAACATTCG___AAATCCACAAGTAGCTTCCACTTGGAATGAAGTAAATAGTCATAGTAATGCACAGTGTGTTTCTAATAATAGAGATGGGCGAACAGTTAATTCTAATTGTGAAATTAACAACAGATCTGCTGCCAACATAAGGGCTCTAAACATGCCTCCTTCTTTAG___CAGATTGTCGATATAATAGAGAAGGGGAACAGGAGATTCATGTTGCACAAGGTGAAGATGATGAGGAGGAGGAGGAAGAAGCAGAAGAGGAGGGAGTCAGTGGAGCTTCATTATCTAGTCACAGGAGCAGTCTGGTTGATGAGCATCCAGAAGATGCTGAATTTGAACAGAAGATCAACCGACTTATGGCTGCAAAACAGAAACTTAGACAGTTACAAGATCTTGTTGCTATGGTACAG___GATGATGATGCAGCTCAAGGAGTTATCTCTGCCAGTGCATCAAATTTGGATGATTTCTACCCAGCAGAAGAAGACACCAAGCAAAATTCAAATAACACTAGAGGAAATGCCAATAAAACACAGAAAGATACTGGAGTAAATGAAAAGGCAAG___AGAGAAATTTTATGAGGCTAAACTACAGCAGCAACAGAGAGAGCTAAAACAATTGCAGGAAGAAAGAAAGAAACTGATTGACATTCAGGAGAAAATTCAAGCATTGCAAACGGCATGCCCTGACTTACAG___CTGTCAGCTGCTAGTGTGGGTAACTGTCCCACCAAAAAATATATGCCAGCTGTTACTTCAACCCCAACTGTTAATCAACACGAGACCAGTACAAGCAAATCTGTTTTTGAGCCTGAAGATTCTTCAATAGTAGATAATGAG___TTGTGGTCAGAAATGAGAAGACATGAAATGTTGAGGGAGGAGCTGCGACAGAGAAGAAAGCAGCTTGAAGCTCTGATGGCTGAACATCAGAGGAGGCAAGGTCTAGCTGAAACTGCATCTCCAGTGGCTGTGTCATTGAGAAGTGATGGATCTGAGAACCTATGTACTCCTCAGCAAAGTAGAACAGAAAA___AACGATGGCAACTTGGGGAGGGTCTACCCAGTGTGCACTAGATGAAGAAGGAGATGAAGACGGTTACCTTTCTGAAGGAATTGTTCGGACAGATGAAGAGGAGGAAGAAGAGCAAGATGCCAGTTCCAATGATAACTTTTCTGTGTGTCCTTCTAACAGTGTGAATCATAACTCCTACAATGGAAAGGAAACTAAAAATAG___GTGGAAGAACAATTGCCCTTTTTCGGCAGATGAAAATTATCGTCCTTTAGCCAAGACAAGGCAACAGAATATCAGCATGCAACGGCAAGAAAACCTTCGTTGGGTGTCAGAGCTCTCTTACGTAGAAGAGAAAGAACAATGGCAAGAACAAATCAATCAGCTAAAGAAACAGCTTGATTTTAGTGTCAGTATTTGTCAGACTTTGATGCAAGACCAGCAG___ACTCTATCTTGTCTGCTACAAACTCTTCTCACGGGTCCTTACAGTGTTATGCCCAGCAATGTTGCATCTCCTCAAGTACACTTCATAATGCACCAGTTGAACCAGTGCTATACTCAGCTAACATGGCAACAGAATAATGTTCAGAG___GTTGAAACAAATGCTAAATGAACTTATGCGCCAGCAAAATCAGCATCCAGAAAAACCTGGAGGCAAGGAAAGAGGCAGTAGTGCATCGCACCCTCCTTCTCCCAGTTTATTTTGTCCTTTCAGCTTTCCAACACAGCCTGTAAATCTCTTCAATATACCTGGATTTACTAACTTTTCATCATTTGCACCAG___GTATGAATTTCAGCCCTTTATTTCCTTCTAATTTTGGAGATTTTTCTCAGAATATCTCTACACCCAGTGAACAGCAGCAACCCTTAGCCCAGAATTCTTCAGGAAAAACAGAATATATGGCTTTTCCAAAACCTTTTGAAAGCAGTTCCTCTATTGGAGCAGAGAAACCAAG___GAATAAAAAACTGCCTGAAGAGGAGGTGGAAAGCAGTAGGACACCATGGTTATATGAACAAGAAGGTGAAGTAGAGAAACCATTTATCAAGACTGGATTTTCAGTGTCTGTAGAAAAATCTACAAGTAGTAACCGCAAAAATCAATTAGATACAAACGGAAGAAGACGCCAGTTTGATGAAGA)ATCACTGGAAAGCTTTAGCAGTATGCCTGATCCAGTAGATCCAACAACAGTGACTAAAACATTCAAGACAAGAAAAGCGTCTGCACAGGCCAGCCTGGCATCTAAAGATAAAACTCCCAAGTCAAAAAGTAAGAAGAGGAATTCTACTCAGCTGAAAAGCAGAGTTAAAAACATCA|GTTCAACAGCTTGATTATGAAGTGCCAGGGCATGAATTTCTTTGGATTTACCATGTTTGGAGTTGATTTAATATTTAAATAACATTTTGGCCACATGCCATGTCTCGTAC MATGGGPFEDGMNDQDLPNWSNENVDDRLNNMDWGAQQKKANRSSEKNKKKFGVESDKRVTNDISPESSPGVGRRRTKTPHTFPHSRYMSQMSVPEQAELEKLKQRINFSDLDQRSIGSDSQGRATAANNKRQLSENRKPFNFLPMQINTNKSKDASTNPPNRETIGSAQCKELFASALSNDLLQNCQVSEEDGRGEPAMESSQIVSRLVQIRDYITKASSMREDLVEKNERSANVERLTHLIDHLKEQEKSYMKFLKKILARDPQQEPMEEIENLKKQHDLLKRMLQQQEQLRALQGRQAALLALQHKAEQAIAVMDDSVVAETAGSLSGVSITSELNEELNDLIQRFHNQLRDSQPPAVPDNRRQAESLSLTREVSQSRKPSASERLPDEKVELFSKMRVLQEKKQKMDKLLGELHTLRDQHLNNSSSSPQRSVDQRSTSAPSASVGLAPVVNGESNSLTSSVPYPTASLVSQNESENEGHLNPSEKLQKLNEVRKRLNELRELVHYYEQTSDMMTDAVNENRKDEETEESEYDSEHENSEPVTNIRNPQVASTWNEVNSHSNAQCVSNNRDGRTVNSNCEINNRSAANIRALNMPPSLADCRYNREGEQEIHVAQGEDDEEEEEEAEEEGVSGASLSSHRSSLVDEHPEDAEFEQKINRLMAAKQKLRQLQDLVAMVQDDDAAQGVISASASNLDDFYPAEEDTKQNSNNTRGNANKTQKDTGVNEKAREKFYEAKLQQQQRELKQLQEERKKLIDIQEKIQALQTACPDLQLSAASVGNCPTKKYMPAVTSTPTVNQHETSTSKSVFEPEDSSIVDNELWSEMRRHEMLREELRQRRKQLEALMAEHQRRQGLAETASPVAVSLRSDGSENLCTPQQSRTEKTMATWGGSTQCALDEEGDEDGYLSEGIVRTDEEEEEEQDASSNDNFSVCPSNSVNHNSYNGKETKNRWKNNCPFSADENYRPLAKTRQQNISMQRQENLRWVSELSYVEEKEQWQEQINQLKKQLDFSVSICQTLMQDQQTLSCLLQTLLTGPYSVMPSNVASPQVHFIMHQLNQCYTQLTWQQNNVQRLKQMLNELMRQQNQHPEKPGGKERGSSASHPPSPSLFCPFSFPTQPVNLFNIPGFTNFSSFAPGMNFSPLFPSNFGDFSQNISTPSEQQQPLAQNSSGKTEYMAFPKPFESSSSIGAEKPRNKKLPEEEVESSRTPWLYEQEGEVEKPFIKTGFSVSVEKSTSSNRKNQLDTNGRRRQFDEESLESFSSMPDPVDPTTVTKTFKTRKASAQASLASKDKTPKSKSKKRNSTQLKSRVKNI|ssta* 05BR045 ENSG00000173575.22 ENSG00000258676.5 +/+ +/+ chr15:92929091 chr15:92570231 CDS/splice-site exon duplication 0 2 2 42 53 high out-of-frame . . . . ENSG00000173575.22 ENSG00000258676.5 ENST00000394196.9 ENST00000555864.2 downstream upstream duplicates(1) ^(AGAGCTGGGAAGGAGGCTCTAGATGGCGGCTGTGCCTTAGAGAGAGCGCGCTCTGCTCCCTGCCTTTGCCTCACTTTACGCAACTTTCCCTAACTTTCGGGCAGCCTCAGGGGGCCCCCGTAGCCCCCTGCCTTTCCTAGGGACTTACTGGGGTCGATTCGAACCTTTTTTTGGGAGAAAAGCAGCTTTTAGGAGCTTTCTTTTCGTGCCTTGTTGGAAAGAAGCAGCCGTACTGAGAGCCCAGGTCGTTGTTTTTTCCAGCTTAGAAGCCATGGCGCACCTCCATTTTTGTGCGCTCTCCTAATGAGGTTTTTTTTCTTTCGGACCTGTTTTAGTATTAATTATTGCTTTATTTTTTTGACCAGTTAACATATTTGAGGGTTATTTTATTTATTTTTCGTTTTTTAACGGAGGATTTTGCCTTTATTTTTAATTATTTGGGATCTGATATTTTTCTACTAGTAGATAGGACTCTTGGTTTGGACATACTACATGGATCAG___TAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCCTTAATATTTAAGAATTAAAAGATGATGAGAAATAAGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAATGCATCGAG___TCACTCAGCCTCTGAAGAAGCTTCGGGTTCAGACTCAGGCAGTCAGTCGGAAAGTGAGCAGGGAAGTGATCCAGGAAGTGGACATGGCAGCGAGTCGAACAGCAGCTCTGAATCTTCTGAGAGTCAGTCGGAATCTGAGAGCGAATCAGCAGGTTCCAAATCCCAGCCAGTCCTCCCAGAAGCCAAAGAGAAGCCAGCCTCTAAGAAGGAACGGATAGCTGATGT)GAAGAAG___ATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAG___GCAAGTAGCGGGTCTGAGAGTGGGAGCCCAAAAAGAAGAGGCCAGAGGCAGCTGAAAAAACA|GTTCTCTTATTCCATTCTGTACATGTCAGAAGCCGTCAGGAGCCTCAAGAGAAGAAGAAAGAGCCATG___GCAGGAGTTACGGCTGCCTCTGGTGCTGAACGGTGGACACTGTGAATCAAGACCAAATTCGTGACAAACTCACACATTTTTAAAAGAAGCAAATCAGCAACTGCCAAG(TCCAAAGGAGCTGGCCAAAGATAAGACCAAG___GTCCCATGAGCTATACTGATAATGACAATGGTGATAGCAACTTTGGAAGCCAGTTAATATTGGAATATGGCAAAGCCACTATCAGCCTGTTTCCTGAGGGAACGCATAGAGCCGAACTTTCTCCCTGCGCCTACTCCAACAATCTGGAATGTCTGCCTTGGAATATTATGTGAGAAAGAAATAAACATCTCTTGTGTTTGAACCATTA)$ MMRNKDKSQEEDSSLHSNASSHSASEEASGSDSGSQSESEQGSDPGSGHGSESNSSSESSESQSESESESAGSKSQPVLPEAKEKPASKKERIADVKKMWEEYPDVYGVRRSNRSRQEPSRFNIKEEASSGSESGSPKRRGQRQLKKq|fsysilymseavrslkrrrkshgrsygclwc* 05BR045 ENSG00000088280.19 ENSG00000088280.19(21621),ENSG00000007968.7(253) -/- ./- chr1:23431696 chr1:23506185 CDS/splice-site intergenic duplication 3 1 0 124 8 high out-of-frame . Ankyrin_repeats_(3_copies)(100%),BAR_domain_of_APPL_family(100%),PH_domain(100%),Putative_GTPase_activating_protein_for_Arf(100%)| . . ENSG00000088280.19 . ENST00000336689.8 . upstream downstream mismatches(1) ^(AGTGCCCCCCGCGCCCCGCTCCGGCAGCTCCACGCTCGCGCCCGCCATGCCGGAGCAGTTCAGCGTCGCCGAGTTCCTGGCCGTCACCGCGGAGGACCTCAGCTCCCCGGCTGGGGCCGCCGCCTTCGCCGCCAAGATGCCCCGGTACCGAGGGGCGGCGCTGGCGCGGGAGGAG___ATCTTGGAAGGAGACCAAGCCATCCTGCAGAGAATAAAGAAGGCTGTGCGGGCAATCCATAGCTCCGGCCTTG___GCCATGTGGAGAATGAAGAGCAGTACCGAGAGGCCGTGGAATCCTTAGGCAACAGCCACCTGTCCCAGAACAGCCATGAGCTGTCCACAGGCTTCCTAAACTTGGCCGTGTTCACCCGCGAGGTTGCTGCGCTCTTCAAGAACCTG___ATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAG___GATTCCAAAAAACAGCTGGAGAAGGCATGGAAGGACTATGAAGCCAAAAT___GGCCAAGCTGGAGAAGGAGCGCGATCGGGCCAGGGTGACAGGAGGGATCCCTGGGGAGGTGGCCCAGGACATGCAGAGAGAGCGGCGCATCTTCCAGCTGCACATGTGTGAG___TATCTGCTCAAAGCCGGGGAGAGCCAGATGAAGCAAGGTCCTGACTTCCTTCAGAGCCTCATCAAGTTCTTCCACGCCCAGCACAA___CTTTTTCCAAGATGGCTGGAAGGCTGCCCAGAGCCTGTTCCCCTTCATCGAGAAGCTGGCGGCCTCAGTACATGCA___CTCCATCAGGCCCAGGAGGACGAGCTACAGAAGCTGACCCAGCTCCGGGACTCCCTCCGAGGGACACTGCAGCTTGAGAGCAGAGAG___GAACACCTGAGCCGGAAGAACTCAGGATGTGGCTATAGCATCCACCAGCACCAAGGCAACAAGCAGTTTGGGACGGAGAAAGTGGGCTTTCTATACAAGAAAAGTGACGG___AATTCGAAGAGTCTGGCAGAAAAGGAAGTGTGGAGTCAAGTATGGCTGCCTGACCATCTCACACAGCACG___ATAAACCGGCCCCCGGTGAAGCTGACCCTGCTGACGTGCCAAGTGAGGCCAAACCCTGAGGAGAAAAAGTGCTTCGACCTGGTGACCC___ACAACCGGACGTACCACTTTCAGGCAGAGGACGAGCACGAGTGTGAGGC___GTGGGTGTCAGTGTTGCAGAACAGCAAGGACGAAGCCCTGAGCAGCGCCTTCCTCGGGGAGCCCAGCGCTGGCCCGGGGTCCTGGGGGTCCGCCGGCCATGATGGGGAGCCGCACGACCTCACAAAGCTGCTCATCGCGGAGGTGAAGAGCAGGCCTGGGAATAGCCAGTGCTGCGACTGCGGGGCTGCAG___ACCCCACGTGGCTCAGCACCAACCTGGGCGTGCTCACCTGCATCCAGTGCTCGGGCGTCCACCGCGAACTGGGCGTGCGCTTTTCGCGCATGCAGTCACTCACCTTGGACCTGCTGGGCCCCTCCGAGTTGTTG___CTGGCCTTGAACATGGGAAACACGAGCTTCAATGAGGTCATGGAGGCCCAGCTACCCTCACACGGCGGCCCTAAACCCTCAGCTGAGAGTGACAT___GGGCACCCGCAGGGACTACATTATGGCCAAGTATGTGGAGCATAGGTTTGCACGCCGGTGCACACCTGAGCCTCAGCGACTCTGGACAGCCATTTGCAACAGGGACCTCCTGTCGGTACTGGAGGCCTTTGCCAATGGGCAGGACTTTGGACAGCCGCTGCCAGGGCCTGATGCACAG___GCACCTGAAGAACTCGTCTTGCATTTGGCTGTCAAAGTCGCCAACCAGGCTTCCCTGCCTCTGGTGGATTTCATCATCCAGAACGG___TGGTCACCTGGATGCCAAGGCTGCTGACGGGAACACGGCTCTGCACTACGCAGCACTCTACAACCAGCCCGACTGCCTCAAGCTGCTGCTGAAGGGGAGAGCTTTGGTTGGCACAG___TAAATGAAGCAGGCGAGACAGCTCTGGACATAGCCAGGAAGAAGCACCACAAGGAGTGTGAGGAGCTG___CTGGAGCAGGCCCAGGCGGGGACCTTTGCCTTCCCTCTACATGTGGACTACTCCTGGGTAATTTCCACAGAGCCTGGCTCTGACAGTGAGGAGGATGAGGAAGAGAAG___CGCTGCTTGCTGAAGCTCCCGGCCCAGGCTCACTGGGCCAGTGGGAGGCTGGACATCAGCAACAAGACCTATGAGACTGTCGCCAGCCTGGGAGCAGCCACCCCTCAGGGCGAGAGTGAGGACTGTCCCCCGCCCTTGCCAGTCAAAAACTCTTCTCGGACTTTGGTCCAAGGGTGTGCAAGACATGCCAGTGGAG___ATCGTTCT)GAAGTCTCCAGCCTaAGTTCAGAGGCCCCTcAGACCCCTGAGAGCCTGaGCcGTCCAGCCTCCTCCTCCcGTCTGATGAGCCCCTTGGAACCTGGGGATCCCAGCCAAGCCCCACCCAACTCTGAAGAGGGCCTCCGAGAGCCCCCAGGCACCTCCAGACCCAGCCTGACATCCGGGACCACCCCTTCGGAGATGTACCTCCCCGTCAGATTCAG|CTTCCTGAAAGGTCTTGCTGCCCACACTCTCCCTCCCACCCTCTACATCAGTGGGTCCAACTGTAGTCCTCAGACCAGCAGCAGCAGTATCACCTGGAAATGTGAGACATGCATATTCAAGACCATGCCTCACGCTGGGTGCGGTGGATCACTTGAAGTTAGGAG MPEQFSVAEFLAVTAEDLSSPAGAAAFAAKMPRYRGAALAREEILEGDQAILQRIKKAVRAIHSSGLGHVENEEQYREAVESLGNSHLSQNSHELSTGFLNLAVFTREVAALFKNLIQNLNNIVSFPLDSLMKGQLRDGRQDSKKQLEKAWKDYEAKMAKLEKERDRARVTGGIPGEVAQDMQRERRIFQLHMCEYLLKAGESQMKQGPDFLQSLIKFFHAQHNFFQDGWKAAQSLFPFIEKLAASVHALHQAQEDELQKLTQLRDSLRGTLQLESREEHLSRKNSGCGYSIHQHQGNKQFGTEKVGFLYKKSDGIRRVWQKRKCGVKYGCLTISHSTINRPPVKLTLLTCQVRPNPEEKKCFDLVTHNRTYHFQAEDEHECEAWVSVLQNSKDEALSSAFLGEPSAGPGSWGSAGHDGEPHDLTKLLIAEVKSRPGNSQCCDCGAADPTWLSTNLGVLTCIQCSGVHRELGVRFSRMQSLTLDLLGPSELLLALNMGNTSFNEVMEAQLPSHGGPKPSAESDMGTRRDYIMAKYVEHRFARRCTPEPQRLWTAICNRDLLSVLEAFANGQDFGQPLPGPDAQAPEELVLHLAVKVANQASLPLVDFIIQNGGHLDAKAADGNTALHYAALYNQPDCLKLLLKGRALVGTVNEAGETALDIARKKHHKECEELLEQAQAGTFAFPLHVDYSWVISTEPGSDSEEDEEEKRCLLKLPAQAHWASGRLDISNKTYETVASLGAATPQGESEDCPPPLPVKNSSRTLVQGCARHASGDRSEVSSLSSEAPqTPESLsrPASSSrLMSPLEPGDPSQAPPNSEEGLREPPGTSRPSLTSGTTPSEMYLPVRFs|flkglaahtlpptlyisgsncspqtssssitwkcetcifktmphagcggslevr 05BR045 ENSG00000005889.15 ENSG00000224116.7(92620),ENSG00000106571.14(88941) +/+ ./+ chrX:24179770 chr7:41872008 CDS/splice-site intergenic translocation 1 2 0 26 3 high out-of-frame . Zfx_/_Zfy_transcription_activation_region(100%)| . . ENSG00000005889.15 . ENST00000379188.7 . downstream upstream duplicates(1) ^(GGCCCAGTGCTCCAGAGAAAGGCCGGCCTGCAGCACCCGCCACCGTCGCCGGCCGCCCGCACGTCCGTCCG___GAGCTGTGACTGATGAGAATTAAAGGCCATGGATGAAGATGGGCTTGAATTACAACAAGAGCCAAACTCATTTTTTGATGCAACAG___ACAGGGTCTCGTTCTGTCACCCAGGCTGGAGCACAGTGGCGCCATCTGGGTCCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATCTGCTCAGCTTCCCGAGTAACTGGGGCTACAG___GAGCTGATGGTACACACATGGATGGTGATCAAATTGTTGTGGAAGTACAAGAAACTGTTTTTGTTTCAGATGTTGTGGATTCAGACATAACTGTGCATAACTTTGTTCCTGATGACCCAGATTCAGTTGTAATCCAAGATGTTATTGAGGACGTTGTTATAGAAGATGTTCAGTGCCCAGATATCATGGAAGAAGCAGATGTGTCTGAAACGGTCATCATTCCTGAGCAAGTGCTGGACTCAGATGTAACTGAAGAAGTTTCTTTAGCACATTGCACAGTCCCAGATGATGTTTTAGCTTCTGACATTACTTCAGCCTCAATGTCTATGCCAGAACACGTCTTGACGGGTGATTCTATACATGTGTCTGACGTTGGACATGTTGGACATGTTGGACATGTTGAACATGTGGTTCATGATAGTGTAGTGGAAG)CAGAAATTGTCACTGATCCTCTGACTACCGACGTAGTTTCAGAAGAAGTATTGGTAGCAGACTGTGCCTCTGAAGCAGTCATAGATGCCAATGGGATCCCTGTGGACCAGCAGGATGATGACAAAGGCAACTGTGAGGACTACCTTATGATTTCCT|CTCACAGTGAAGGACCCTGAGAGGGCAGAGCCATGTGATGGAATGAGCCATGATCCCTGAGTCCTCACCTCAGGGAGAGATGTGCAGAAGAGCCACCCAAGTGGTGATGTGCTGGTAAACgTTTAGTGACCCATTTGAGGTGTGGGG MDEDGLELQQEPNSFFDATDRVSFCHPGWSTVAPSGSTATSASQAQVICSASRVTGATGADGTHMDGDQIVVEVQETVFVSDVVDSDITVHNFVPDDPDSVVIQDVIEDVVIEDVQCPDIMEEADVSETVIIPEQVLDSDVTEEVSLAHCTVPDDVLASDITSASMSMPEHVLTGDSIHVSDVGHVGHVGHVEHVVHDSVVEAEIVTDPLTTDVVSEEVLVADCASEAVIDANGIPVDQQDDDKGNCEDYLMIS|shsegp* 05BR045 ENSG00000153246.13 ENSG00000153250.20(222322),ENSG00000279844.1(133184) -/- ./- chr2:160013263 chr2:160716129 CDS/splice-site intergenic duplication 1 1 1 86 2 high out-of-frame . Fibronectin_type_II_domain(100%),Lectin_C-type_domain(100%)| . . ENSG00000153246.13 . ENST00000283243.13 . upstream downstream . ^(AGAGCCCCGAGTGTCGGTTCACTGTGGAGACAGCGGTGGCGGAGTGGGTCTCCAGGGCTCTGGGCTGGCAAGGCCCCCGGAGGGGGTGGGGCGCGGAGGAGGCTACGGATCCGCTTCCGCGCGGCGGGGCCGGGTGCTTGGGACGCGGCTCTGGGCTCCCGGGATAAGGGGCTCCCGGGACAAGGGGCTCCCGGAGAGCCCAGTGGTTAGCGATGCTGCTGTCGCCGTCGCTGCTGCTGCTGCTGCTGCTGGGGGCGCCGCGGGGCTGCGCCGAGGGTGTGGCGGCGGCGCTTACCCCCGAGCGGCTCCTGGAGTGGCAGG___ATAAAGGAATATTTGTTATCCAAAGTGAGAGTCTCAAGAAATGCATTCAAGCAGGTAAATCGGTTCTGACCCTGGAGAACTGCAAGCAAGCAAACAAGCACATGCTGTGGAAATGGGTTTCAAACCATGGCCTCTTTAACATAGGAGGCAGTGGTTGCCTGGGCCTGAATTTCTCCGCCCCAGAGCAGCCATTAAGCTTATATGAATGTGACTCCACCCTCGTTTCCTTACGGTGGCGCTGTAACAGGAAGATGATCACAGGCCCGCTGCAGTACTCTGTCCAGGTGGCGCATGACAACACAGTGGTGGCCTCACGGAAGTATATTCATAAGTGGATTTCTTATGGGTCAGGTGGTGGAGACATTTGTGAATATCTACACAAAG___ATTTGCATACAATCAAAGGGAACACCCACGGGATGCCGTGTATGTTTCCCTTCCAGTATAACCATCAGTGGCATCATGAATGTACCCGTGAAGGTCGGGAAGATGACTTACTGTGGTGTGCCACGACAAGCCGTTATGAAAGAGATGAAAAGTGGGGATTTTGCCCTGATCCCA___CCTCTGCAGAAGTAGGTTGTGATACTATTTGGGAGAAGGACCTCAATTCACACATTTGCTACCAGTTCAACCTGCTTTCATCTCTCTCTTGGAGTGAGGCACATTCTTCATGCCAGATGCAAGGAGGTACGCTGTTAAGTATTACAGATGAAACTGAAGAAAATTTCATAAGGG___AGCACATGAGCAGTAAAACAGTGGAGGTGTGGATGGGCCTCAATCAGCTGGATGAACACGCTGGCTGGCAGTGGTCTGATGGAACGCCGCTCAACTATCTGAATTGGAGCCCAG___AGGTAAATTTTGAGCCATTTGTTGAAGATCACTGTGGAACATTTAGTTCATTTATGCCAAGTGCCTGGAGGAGTCGGGATTGTGAGTCCACCTTGCCATATATATGTAAAAAATATCTAAACCACATTGATCATGAAATAGTTG___AAAAAGATGCGTGGAAATATTATGCTACCCACTGTGAGCCTGGCTGGAATCCCTACAATCGTAATTGCTACAAACTTCAGAAAGAAGAAAAGACCTGGCATGAGGCTCTGCGTTCTTGTCAGGCTGATAACAGTGCATTAATAGACATAACCTCATTAGCAGAGGTGGAGTTTCTTGTAACCCTCCTTGGAGATG___AAAATGCATCAGAAACATGGATTGGTTTGAGCAGCAATAAAATTCCAGTTTCCTTTGAATGGTCTAATGACTCTTCAGTCATCTTTA)CTAATTGGCACACACTTGAGCCCCACATTTTTCCAAATAGAAGCCAGCTGTGTGTCTCAGCAGAGCAGTCT___GAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAG___GGATGGGAGAGACATGGTGGATTCTGTTACAAAATTGACACAGTCCTTCGAAGCTTTGACCAAGCTTCCAGCGGTTATTACTGTCCTCCTGCACTTGTAACCATTACAAACAG|GGACTTAGCCATAAAGGAAATAAGTGGCAGAAGAAGAACACTAAAGCTCCCTATAAGTCTTTTTTTGCATTTATTTCACTAAAAGCTGCAGGCTG...CTCTGCTAGAAGTCCTTCTTGGGGGAGGAGGTGGTAGAAGGAGTGGAAGGTGGTGCAGAGGAGGCTGGGATGAGTGAGAAAAGTACATCCTGACGAGGACACCAGCATAGTGGCACAACCCCACAAAGGAGACCCCGAGAGGAAAGGGAG MLLSPSLLLLLLLGAPRGCAEGVAAALTPERLLEWQDKGIFVIQSESLKKCIQAGKSVLTLENCKQANKHMLWKWVSNHGLFNIGGSGCLGLNFSAPEQPLSLYECDSTLVSLRWRCNRKMITGPLQYSVQVAHDNTVVASRKYIHKWISYGSGGGDICEYLHKDLHTIKGNTHGMPCMFPFQYNHQWHHECTREGREDDLLWCATTSRYERDEKWGFCPDPTSAEVGCDTIWEKDLNSHICYQFNLLSSLSWSEAHSSCQMQGGTLLSITDETEENFIREHMSSKTVEVWMGLNQLDEHAGWQWSDGTPLNYLNWSPEVNFEPFVEDHCGTFSSFMPSAWRSRDCESTLPYICKKYLNHIDHEIVEKDAWKYYATHCEPGWNPYNRNCYKLQKEEKTWHEALRSCQADNSALIDITSLAEVEFLVTLLGDENASETWIGLSSNKIPVSFEWSNDSSVIFTNWHTLEPHIFPNRSQLCVSAEQSEGHWKVKNCEERLFYICKKAGHVLSDAESGCQEGWERHGGFCYKIDTVLRSFDQASSGYYCPPALVTITNr|dlaikeisgrrrtlklpislflhlfh* 05BR045 ENSG00000165156.15 ENSG00000156804.7 -/- -/- chr8:123274122 chr8:123514333 5'UTR/splice-site CDS/splice-site duplication 1 0 2 5 168 high out-of-frame . . . . ENSG00000165156.15 ENSG00000156804.7 ENST00000297857.3 ENST00000517956.5 upstream downstream . ^(GACGCGCGCGCGGGAGGGCCCCGCCTTGGCCGGCTCTCTCCCTTCCCCCTCCGCCCCCGGACGGCCGCTGGGGCGCGCGCCTCTCCTCGCACCCCCACCCTGAGTCCCCACACTCCGCGGGGCCACCGAGCTGCTGAGGCCCCTTTGCGGGCCCGCCGAGCGGTTCCGGGTTTAGGGTTCACAGGTCAGAGTTGACTCCCTGAAAAGTGCAGCCGGTTTGAAATGCAAG)ATGGCGGCGGCGTGGCGCTGAGAGGCGCGGCGGCCCCTGCAGGTAGTGGCGCGAGCCGGCTCCGCGACCAGCGGGCCCGGAGACTCTGGGCTGCGGGTGGGAACTGGAGCGCAGAGTCCGCGGCCGGCACGGGAAAG|CTGTTGGAGCTGATAGCAAAGTCACAGCTCACATCCCTGAGTGGCATCGCCCAAAAGAACTTCATGAATATTTTGGAAAAAGTGGTACTGAAAG___TCCTTGAAGACCAGCAAAACATTAGACTAATAAGGGAACTACTCCAGACCCTCTACACATCCTTATGTACACTGGTCCAAAGAGTCGGCAAGTCTGTGCTGGTCGGGAACATTAACATGTGGG(TGTATCGGATGGAGACGATTCTCCACTGGCAGCAGCAGCTGAACAACATTCAGATCACCAGG___CCTGCCTTCAAAGGCCTCACCTTCACTGACCTGCCTTTGTGCCTACAACTGAACATCATGCAGAGGCTGAGCGACGGGCGGGACCTGGTCAGCCTGGGCCAGGCTGCCCCCGACCTGCACGTGCTCAGCGAAGACCGGCTGCTGTGGAAGAAACTCTGCCAGTACCACTTCTCCGAGCGGCAG___ATCCGCAAACGATTAATTCTGTCAGACAAAGGGCAGCTGGATTGGAAGAAGATGTATTTCAAACTTGTCCGATGTTACCCAAGGAAAGAGCAGTATGGAGATACCCTTCAGCTCTGCAAACACTGTCACATCCTTTCCTGGAAG___GGCACTGACCATCCGTGCACTGCCAATAACCCAGAGAGCTGCTCCGTTTCACTTTCACCCCAGGACTTTATCAACTTGTTCAAGTTCTGAATCCCAGCACATGACAACACTTCAGAAGGGTCCCCCTGCTGACTGGAGAGCTGGGAATATGGCATTTGGACACTTCATTTGTAAATAGTGTACATTTTAAACATTGGCTCGAAACTTCAGAGATAAGTCATGGAGAGGACATTGGAGGGGAGAAATGCAGTTGCTGACTGGGAATTTAAGAATGTGAACTTCTCACTAGAATTGGTATGGAAAAGCAAAATACTGTAAATAAACTTTTTTTCTAACAATTTGCCAGCAAGACTATAAGGGCAATAATTCTATTTCAGCGGTGAAAATGGAGTCCTCTTAATGGTCACAGAAACTCTCTTATAGTTCCCTAGGAAGAAAAAGGCAAAACTCAAATACAAAATAGGACGCTTTGTTTACAATGTGAAAATTTGTTTAGAAAAGAAAAAATGAAGAAGGAAAACTATATAGGAGAAATTCCTGGGCTTTGGGGTTTGATCTGGTGTTTGTTTTGAGAAGGCGAAGGAAGCGCCACCCATCCTAAACCTGCATGGGCACAGAGCCTTACCCTACAGAGATACCACACAATGGTCTACCTCTAAAAGCGTAGAGTGCCCTCTCTGACAACGCATGTGATCCAGTAGGCAGTGTCTGTTTTTCTCGTAAGTGTTTTCATCACTATAAAAAGTGATTTAAAATGGAAAGGGATATTGGAGGCAATCCTCTGGTTTCACACTTCCTTTTCAGGCAAACAGGGCCCTCCTTAGAGTTATCTGTTCACCAGAACAACCCAAAAGCACATGTTCCTTTTTTCCTGTCATGTTGTAGCTCATTTGGGGGAAAAGAAGGCCAACTTAAAACAGTCCCAGGGGAGGATTGCTTGAGCCCAGGAGTCTGAGGTTTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGTCTCCAAAACAAAACAAAACAAAACAAAAGCCGTCCCAGAGGAAGTCCTGCTGCAGAAAAGATGATAGAATTGGTCACCCAATCAATAGCTGTGAAGACTTCCTTATTCCTGCTGAACTTCCTTCCTTGGATATCTTCATGGATAAGCCTGTGTCTGTGGACAGAGTGGGGCCCAAGTGCTGAGGCTCGAAAGACAGGTTTTACAATCAGCCAATTAAACATCTTACCAGTTGCTGTACCCCTTGCCAAGGGGATGAGCTGAGGAGCTTCTTTTCTTTAGGTCCAACATCAAAATGAGTCCATCTGAGCTAGGGCTTTTTGCAAAGGTGATTAAAAATCAAGGCTGGAGTTCCAGCCAAATAGGGAGGAGAGGTACCACAAGTTCATCTTAAACTTGCTTCCGGGCTGGGTAGTTAAAACAGGAAGATCCCAAGGGGATCTTACGAGGCAAATATCAGCAGGTAACTGTGGAAGAAAGGAAATCTCAGGACCTAATGAGTTCGTTGTAAAATATTCCTGGGAATAGATGGGGGATCTACTCCCAGTTTTTTACTTTTTACAGAATATTGTTGCTTTCCTACAACAATGTACATATATTTGCAGTTGTATATGCTTTTTTTTTTTCCAAATAAACTTGTCACCCTGCATGCCCTTGGCAAATAAGTGAAGCAGAAATAGGAACACAGTCCACATTCAAGTTGAGGAACAGTGTATCTTTAAGAGCTGAGCTTTGGGTGACCTGGAAAGGGGGAAAGATGGCTAAGCATGGAGAGAAACGAGGCAAGAGACAAGCTATGATACAACACCGCTTCAGCCCCTGCCCTCAATAGCACACAACCCACATATCAGCTTTCTGAAGAGAAGGAACCTACTGTTTAGTGCTCCTCACTTTGCAATGTTTGTGCTACGCCAGAATTTCTCCAGTTTTTTTCATTATCATCCCCCTGAGAAAAAAATTACATTGAATTTAAATTTTCCCTAATAAGAGAAATTAAATATGAAAGAATAGGATTTTGTTGGGTAAGATTGAGCTTTGGAAGGTCACGAACCATTATTCTATCTAAGGTGTGTGTTTTGTTTTGTTTTTTTTTGTTTTTTTTTTGCAATCCCTCTCCCCCTGAACCAATTTCACATTGGGAATGCAGGACCTAGACTGCTGAATAAAAAGCTACTTCTTCTATAATTGTCAGGTTCTCTCCAATTTCTCAGCTTCCTCAAAGACATGGGGTGGAGTTGGGTGTGCCATCACTGAGAGAGCTCTGGAACTTTTGACTCTTAGTGACATTTTTAGATTTAGGGGTTCATGGCCTTCCACATGTTGCCACCAACTGGTGATCTCTGCCCCTTCATGCTGATCAAGAAAGTAGAAACTCCTCGTCGCCTTCAGGTTTGCAGTCGCAGAAACATTGCCTGCTGTGGACTGTCAGCACAAAACTGGGACACTGGTGTCATTTAGACTGTCAGCAGTGCACATGATTGTACGATAGACTCCAGGCAACCATGTGCATCTGTGCAAGATGACCTCTGCCCCAAGAGAAGGGTTACGGTCTAATTAAATGTTTACCAAGATGGTACCAGTGGGCTCTCCCCGTGTCCTTTGGTGTTATTGGAGCTGGTGTATGACAGACTCAAGGAAATTTTTTAAGGAAAATGAAGAAGAAATCAACCTTTATGGTTCTCTTTCATTGGAAGAGGAGAATAAGGAAAGAAATGGCAGGTAGAGAGGGAGGGGGAAAGGAATAGAAATGGCATGTCTTTGATGCTGTGGCTTGTGTGGGGACAATGGGAAGAGCACAGCAGGCACAACATATCTGTGTTAGTGCCACGTGGTATCTGTTAAGTATGGCCAGAGCCTCACATATAAGTGAAGAGAGTTAAGACAATTCTTGCTCTTTGAACAATAATAGTCTATAGAATTTCTATTGGCAAACCATCCCAGACAACCTGACCTATCAAACAAAAGCAAATAATCCCTGTCTCAGAACTGCTGGTCTAAAAGCTAGAAGGGGCATGATAATGGAAATTGCTAGAAAAGAGAGAATGCTCTACTCTCTTTCCTGTGCCTACCTACCCCCATCCTAAACCCTGTAAAACAGAATTTCAAAATAGATGTCAAATATGAAGTAATTCAGACTTCCAAAGAAGGAAAGAGTTCTGCCCAGGGCAGTATGAGCAAATCCACAGGGATGTTAAGATTTGGTCCAACTCAAAGGTTTATGGGCAGTGAGCCTAGAGTCTCTTGAGAGTAAACCCTTGCATTTGGGACAAGGAGAATATGTGAAGTTCAGGAGTGCTCACACTAGAGCAAGATCCAGAAAAAAAAAAATCCAATGGCATTTTAAACTAGATTGCATTATCACTCAATGCTGTTACTTTGAGCAGACAAATCAGTTGAATGGGAGGGCAAATGGCAGAAATGAACAAAAGCTATTAGGTGAAAGCATCCCCAATGTATCAGTTGTGAGATGATTTTTGTTTAATGATGATCAGGTTTACATTGAAGTGGCTTGGAAGACGTATTTCAGAGGGACTGGGTTTGTACTGCAAAACTCTGAACACTAGAGCAGGTTCTACTAGCACTTGGGCAGTAAGGTAGCGGGTGTGTATTATGCTATTGCCATAGTTCTCGTCTTTGTGGATTCACATACCCTTTCCCATGAGGAGCTTGCTACTAACAGCCTCCTGTTTCTGTTGTTTTTATATGGGAGAAGAGAAAGAGCTTGGAATTTCAATTGTCTAAACAATTGGTATGATTTACAAGAAGGCAAACCATTCAGGAGATGTTCAACAGTGTATCATTCTTAGCATTCAATACAATGTTTATTATAAAATATACACCTGAGTTTATGTTTTTCTGCCAGGCTGAAGGGCAATAATGTCTTGCTATGCAAACACTCTATTTTATGTGTGAATTTTTTTAACTGTAATTTTATGTGTGAATTTTTTTAACTAAACTCTATCATCATTTTCTATGTTGACATCTTTTTTTTTTTTTTAATCTGTTTCCAACTCTGAGTCTGTGAACTATCTCTTCTGACTGGATGCTGGCCTAAAATCCTATTAGTGCTTAAACAGACCTCAAAACACTCTGAACCTGTAGGCCAATACAGAGATGTTGTTCTTTGATATATCTTGGGTCCTTGATGGCTTCAACAAACAAGGTCATAATTTGTTTAAATTCAGTGTTTTCTGTAGATACCTTCTTCTCAGTTTCATTAAGAAGAGTAACCATCTTTGGTTTTCCAAAGAATGGAAACTCCTACCCTAGACTTTAGACTTAGAGCGTCTGCCTTTCACGATGAGTAAGAGATCCAGAATGTTTAGGGGATGTGCGTCAGCCCACCTGGTACAGTGGCAAAGCTGAATGCGAACTTGAGGCCTCCTGAGGCCTGACCTTCTATGCCCCCAGCCCTCCACCCCAAGCACCTTTTGGTGTGGCTGGAAACACATGACATTGGATGTGATTTTTCTCAAGCCCTTCACTGTGGAAGGCATGGGAGACTGCCCAGCATTGGGCATGTGGCTGTTAACGTTTCCATTTCAAGTCCCTGATTCTTACTGGAGAAGTTAAGGAGCCACTTAATGTTTTCACAGACCTCTGATTCTGTTGTGAATGTGGCATTCCAGTGAGTACAACCTGCTTGCTATAAAGAAAGCAGCATATTTTGACAATTTTATTTCTTCCTTGGGTACTTACATTTTTATTACAAAAATGGCCGTTATAAAAAAAGACAGAAGGGCTGGGCAGTGGCTTGCTCCCTAGAAACTGAGATTCCGAAGCAGGTGTTTCCTCTCCCCTAGACTCAGAGGTACATTTAATCCATCTTCTCCATTTCCTCCTTCAGGACCAGCTATGAGATTCAGTGCATTTCTAGCCCAGCGGATGTTCATTCTCCACTAAACTTCATCTTTTACTAAGCAAAGGGGGATTATTCCATGAGGCAGCCAGGAGCAAGGGGCCATGATATTCATGACTTTGTCTGCTGGGCATTTTTCAAAGTGTCCTTGAATTCACTCAGCAAACAAAGCTTTCTGGAGAATCTCTCAAAACTTAGGCCCTGCTCCATTTGGCCAAAAATGATGGCTGCTCCAAAACTCTGAACTTCTTAAAACTCCATCTGCTACATTATTTCTGGAGTTTAAACATGACTTTTTCTGTCTTTGAGTATAGATGTGTTTGTTTAATTAACGAAGCACAAGTCTGTTAAGCAGAAGGCTCCAAGCTGTATTCTATACTTGGGAATCCTTGGTGCCATCTTTATTCTACCAAGTGCCAATCACCATGGCTAAAGTGGGCGTATATTACAGCCTGTGTCCTAAGCTTAGAAGCTTTAATGTACTTTTTTAAATGAAAAGTATTAGAGGGGGTTGAACATTGTAACTAAAGCATAAAGTTAGACCAATTACATGCAGAGATGTTTATTTAATATTGTGTGAGCTGAGTCCTTCTGTATAAATTATTTGCACACTTTTCTTGCATGATGAACTGATTTTTTATAGTTGTTTGTACCAGACGGTGGCATATTTTTGTAAAAAACTTTTGACACTGAATTGCAATAAATGTTTTTCCAACAACA)$ 05BR045 ENSG00000165156.15 ENSG00000156804.7 -/- -/- chr8:123274217 chr8:123514333 5'UTR/splice-site CDS/splice-site duplication 2 0 1 8 168 high out-of-frame . . . . ENSG00000165156.15 ENSG00000156804.7 ENST00000297857.3 ENST00000517956.5 upstream downstream . ^(GACGCGCGCGCGGGAGGGCCCCGCCTTGGCCGGCTCTCTCCCTTCCCCCTCCGCCCCCGGACGGCCGCTGGGGCGCGCGCCTCTCCTCGCACCCCCACCCTGAGTCCC)CACACTCCGCGGGGCCAgCGAGCTGCTGAGGCCCCTTTGCGGGCCCGCCGAGCGGTTCCGGGTTTAGGGTTCACAGGTCAGAGTTGACTCCCTGAAAAGTGCAGCCGGTTTGAAATGCAAGATGGCGGCGGCGTGGCGCTGAGAGGCGCGGCGGCCCCTGCAG|CTGTTGGAGCTGATAGCAAAGTCACAGCTCACATCCCTGAGTGGCATCGCCCAAAAGAACTTCATGAATATTTTGGAAAAAGTGGTACTGAAAG___TCCTTGAAGACCAGCAAAACATTAGACTAATAAGGGAACTACTCCAGACCCTCTACACATCCTTATGTACACTGGTCCAAAGAGTCGGCAAGTCTGTGCTGGTCGGGAACATTAACATGTGGG(TGTATCGGATGGAGACGATTCTCCACTGGCAGCAGCAGCTGAACAACATTCAGATCACCAGG___CCTGCCTTCAAAGGCCTCACCTTCACTGACCTGCCTTTGTGCCTACAACTGAACATCATGCAGAGGCTGAGCGACGGGCGGGACCTGGTCAGCCTGGGCCAGGCTGCCCCCGACCTGCACGTGCTCAGCGAAGACCGGCTGCTGTGGAAGAAACTCTGCCAGTACCACTTCTCCGAGCGGCAG___ATCCGCAAACGATTAATTCTGTCAGACAAAGGGCAGCTGGATTGGAAGAAGATGTATTTCAAACTTGTCCGATGTTACCCAAGGAAAGAGCAGTATGGAGATACCCTTCAGCTCTGCAAACACTGTCACATCCTTTCCTGGAAG___GGCACTGACCATCCGTGCACTGCCAATAACCCAGAGAGCTGCTCCGTTTCACTTTCACCCCAGGACTTTATCAACTTGTTCAAGTTCTGAATCCCAGCACATGACAACACTTCAGAAGGGTCCCCCTGCTGACTGGAGAGCTGGGAATATGGCATTTGGACACTTCATTTGTAAATAGTGTACATTTTAAACATTGGCTCGAAACTTCAGAGATAAGTCATGGAGAGGACATTGGAGGGGAGAAATGCAGTTGCTGACTGGGAATTTAAGAATGTGAACTTCTCACTAGAATTGGTATGGAAAAGCAAAATACTGTAAATAAACTTTTTTTCTAACAATTTGCCAGCAAGACTATAAGGGCAATAATTCTATTTCAGCGGTGAAAATGGAGTCCTCTTAATGGTCACAGAAACTCTCTTATAGTTCCCTAGGAAGAAAAAGGCAAAACTCAAATACAAAATAGGACGCTTTGTTTACAATGTGAAAATTTGTTTAGAAAAGAAAAAATGAAGAAGGAAAACTATATAGGAGAAATTCCTGGGCTTTGGGGTTTGATCTGGTGTTTGTTTTGAGAAGGCGAAGGAAGCGCCACCCATCCTAAACCTGCATGGGCACAGAGCCTTACCCTACAGAGATACCACACAATGGTCTACCTCTAAAAGCGTAGAGTGCCCTCTCTGACAACGCATGTGATCCAGTAGGCAGTGTCTGTTTTTCTCGTAAGTGTTTTCATCACTATAAAAAGTGATTTAAAATGGAAAGGGATATTGGAGGCAATCCTCTGGTTTCACACTTCCTTTTCAGGCAAACAGGGCCCTCCTTAGAGTTATCTGTTCACCAGAACAACCCAAAAGCACATGTTCCTTTTTTCCTGTCATGTTGTAGCTCATTTGGGGGAAAAGAAGGCCAACTTAAAACAGTCCCAGGGGAGGATTGCTTGAGCCCAGGAGTCTGAGGTTTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGTCTCCAAAACAAAACAAAACAAAACAAAAGCCGTCCCAGAGGAAGTCCTGCTGCAGAAAAGATGATAGAATTGGTCACCCAATCAATAGCTGTGAAGACTTCCTTATTCCTGCTGAACTTCCTTCCTTGGATATCTTCATGGATAAGCCTGTGTCTGTGGACAGAGTGGGGCCCAAGTGCTGAGGCTCGAAAGACAGGTTTTACAATCAGCCAATTAAACATCTTACCAGTTGCTGTACCCCTTGCCAAGGGGATGAGCTGAGGAGCTTCTTTTCTTTAGGTCCAACATCAAAATGAGTCCATCTGAGCTAGGGCTTTTTGCAAAGGTGATTAAAAATCAAGGCTGGAGTTCCAGCCAAATAGGGAGGAGAGGTACCACAAGTTCATCTTAAACTTGCTTCCGGGCTGGGTAGTTAAAACAGGAAGATCCCAAGGGGATCTTACGAGGCAAATATCAGCAGGTAACTGTGGAAGAAAGGAAATCTCAGGACCTAATGAGTTCGTTGTAAAATATTCCTGGGAATAGATGGGGGATCTACTCCCAGTTTTTTACTTTTTACAGAATATTGTTGCTTTCCTACAACAATGTACATATATTTGCAGTTGTATATGCTTTTTTTTTTTCCAAATAAACTTGTCACCCTGCATGCCCTTGGCAAATAAGTGAAGCAGAAATAGGAACACAGTCCACATTCAAGTTGAGGAACAGTGTATCTTTAAGAGCTGAGCTTTGGGTGACCTGGAAAGGGGGAAAGATGGCTAAGCATGGAGAGAAACGAGGCAAGAGACAAGCTATGATACAACACCGCTTCAGCCCCTGCCCTCAATAGCACACAACCCACATATCAGCTTTCTGAAGAGAAGGAACCTACTGTTTAGTGCTCCTCACTTTGCAATGTTTGTGCTACGCCAGAATTTCTCCAGTTTTTTTCATTATCATCCCCCTGAGAAAAAAATTACATTGAATTTAAATTTTCCCTAATAAGAGAAATTAAATATGAAAGAATAGGATTTTGTTGGGTAAGATTGAGCTTTGGAAGGTCACGAACCATTATTCTATCTAAGGTGTGTGTTTTGTTTTGTTTTTTTTTGTTTTTTTTTTGCAATCCCTCTCCCCCTGAACCAATTTCACATTGGGAATGCAGGACCTAGACTGCTGAATAAAAAGCTACTTCTTCTATAATTGTCAGGTTCTCTCCAATTTCTCAGCTTCCTCAAAGACATGGGGTGGAGTTGGGTGTGCCATCACTGAGAGAGCTCTGGAACTTTTGACTCTTAGTGACATTTTTAGATTTAGGGGTTCATGGCCTTCCACATGTTGCCACCAACTGGTGATCTCTGCCCCTTCATGCTGATCAAGAAAGTAGAAACTCCTCGTCGCCTTCAGGTTTGCAGTCGCAGAAACATTGCCTGCTGTGGACTGTCAGCACAAAACTGGGACACTGGTGTCATTTAGACTGTCAGCAGTGCACATGATTGTACGATAGACTCCAGGCAACCATGTGCATCTGTGCAAGATGACCTCTGCCCCAAGAGAAGGGTTACGGTCTAATTAAATGTTTACCAAGATGGTACCAGTGGGCTCTCCCCGTGTCCTTTGGTGTTATTGGAGCTGGTGTATGACAGACTCAAGGAAATTTTTTAAGGAAAATGAAGAAGAAATCAACCTTTATGGTTCTCTTTCATTGGAAGAGGAGAATAAGGAAAGAAATGGCAGGTAGAGAGGGAGGGGGAAAGGAATAGAAATGGCATGTCTTTGATGCTGTGGCTTGTGTGGGGACAATGGGAAGAGCACAGCAGGCACAACATATCTGTGTTAGTGCCACGTGGTATCTGTTAAGTATGGCCAGAGCCTCACATATAAGTGAAGAGAGTTAAGACAATTCTTGCTCTTTGAACAATAATAGTCTATAGAATTTCTATTGGCAAACCATCCCAGACAACCTGACCTATCAAACAAAAGCAAATAATCCCTGTCTCAGAACTGCTGGTCTAAAAGCTAGAAGGGGCATGATAATGGAAATTGCTAGAAAAGAGAGAATGCTCTACTCTCTTTCCTGTGCCTACCTACCCCCATCCTAAACCCTGTAAAACAGAATTTCAAAATAGATGTCAAATATGAAGTAATTCAGACTTCCAAAGAAGGAAAGAGTTCTGCCCAGGGCAGTATGAGCAAATCCACAGGGATGTTAAGATTTGGTCCAACTCAAAGGTTTATGGGCAGTGAGCCTAGAGTCTCTTGAGAGTAAACCCTTGCATTTGGGACAAGGAGAATATGTGAAGTTCAGGAGTGCTCACACTAGAGCAAGATCCAGAAAAAAAAAAATCCAATGGCATTTTAAACTAGATTGCATTATCACTCAATGCTGTTACTTTGAGCAGACAAATCAGTTGAATGGGAGGGCAAATGGCAGAAATGAACAAAAGCTATTAGGTGAAAGCATCCCCAATGTATCAGTTGTGAGATGATTTTTGTTTAATGATGATCAGGTTTACATTGAAGTGGCTTGGAAGACGTATTTCAGAGGGACTGGGTTTGTACTGCAAAACTCTGAACACTAGAGCAGGTTCTACTAGCACTTGGGCAGTAAGGTAGCGGGTGTGTATTATGCTATTGCCATAGTTCTCGTCTTTGTGGATTCACATACCCTTTCCCATGAGGAGCTTGCTACTAACAGCCTCCTGTTTCTGTTGTTTTTATATGGGAGAAGAGAAAGAGCTTGGAATTTCAATTGTCTAAACAATTGGTATGATTTACAAGAAGGCAAACCATTCAGGAGATGTTCAACAGTGTATCATTCTTAGCATTCAATACAATGTTTATTATAAAATATACACCTGAGTTTATGTTTTTCTGCCAGGCTGAAGGGCAATAATGTCTTGCTATGCAAACACTCTATTTTATGTGTGAATTTTTTTAACTGTAATTTTATGTGTGAATTTTTTTAACTAAACTCTATCATCATTTTCTATGTTGACATCTTTTTTTTTTTTTTAATCTGTTTCCAACTCTGAGTCTGTGAACTATCTCTTCTGACTGGATGCTGGCCTAAAATCCTATTAGTGCTTAAACAGACCTCAAAACACTCTGAACCTGTAGGCCAATACAGAGATGTTGTTCTTTGATATATCTTGGGTCCTTGATGGCTTCAACAAACAAGGTCATAATTTGTTTAAATTCAGTGTTTTCTGTAGATACCTTCTTCTCAGTTTCATTAAGAAGAGTAACCATCTTTGGTTTTCCAAAGAATGGAAACTCCTACCCTAGACTTTAGACTTAGAGCGTCTGCCTTTCACGATGAGTAAGAGATCCAGAATGTTTAGGGGATGTGCGTCAGCCCACCTGGTACAGTGGCAAAGCTGAATGCGAACTTGAGGCCTCCTGAGGCCTGACCTTCTATGCCCCCAGCCCTCCACCCCAAGCACCTTTTGGTGTGGCTGGAAACACATGACATTGGATGTGATTTTTCTCAAGCCCTTCACTGTGGAAGGCATGGGAGACTGCCCAGCATTGGGCATGTGGCTGTTAACGTTTCCATTTCAAGTCCCTGATTCTTACTGGAGAAGTTAAGGAGCCACTTAATGTTTTCACAGACCTCTGATTCTGTTGTGAATGTGGCATTCCAGTGAGTACAACCTGCTTGCTATAAAGAAAGCAGCATATTTTGACAATTTTATTTCTTCCTTGGGTACTTACATTTTTATTACAAAAATGGCCGTTATAAAAAAAGACAGAAGGGCTGGGCAGTGGCTTGCTCCCTAGAAACTGAGATTCCGAAGCAGGTGTTTCCTCTCCCCTAGACTCAGAGGTACATTTAATCCATCTTCTCCATTTCCTCCTTCAGGACCAGCTATGAGATTCAGTGCATTTCTAGCCCAGCGGATGTTCATTCTCCACTAAACTTCATCTTTTACTAAGCAAAGGGGGATTATTCCATGAGGCAGCCAGGAGCAAGGGGCCATGATATTCATGACTTTGTCTGCTGGGCATTTTTCAAAGTGTCCTTGAATTCACTCAGCAAACAAAGCTTTCTGGAGAATCTCTCAAAACTTAGGCCCTGCTCCATTTGGCCAAAAATGATGGCTGCTCCAAAACTCTGAACTTCTTAAAACTCCATCTGCTACATTATTTCTGGAGTTTAAACATGACTTTTTCTGTCTTTGAGTATAGATGTGTTTGTTTAATTAACGAAGCACAAGTCTGTTAAGCAGAAGGCTCCAAGCTGTATTCTATACTTGGGAATCCTTGGTGCCATCTTTATTCTACCAAGTGCCAATCACCATGGCTAAAGTGGGCGTATATTACAGCCTGTGTCCTAAGCTTAGAAGCTTTAATGTACTTTTTTAAATGAAAAGTATTAGAGGGGGTTGAACATTGTAACTAAAGCATAAAGTTAGACCAATTACATGCAGAGATGTTTATTTAATATTGTGTGAGCTGAGTCCTTCTGTATAAATTATTTGCACACTTTTCTTGCATGATGAACTGATTTTTTATAGTTGTTTGTACCAGACGGTGGCATATTTTTGTAAAAAACTTTTGACACTGAATTGCAATAAATGTTTTTCCAACAACA)$ 05BR045 ENSG00000132849.20 ENSG00000284808.1 +/+ +/+ chr1:62100408 chr1:61523959 CDS/splice-site exon/splice-site duplication 0 1 1 11 86 high out-of-frame . L27_2(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%)| . . ENSG00000132849.20 ENSG00000284808.1 ENST00000307297.8 ENST00000647399.1 downstream upstream duplicates(1),mismappers(2) ^(AGTCTGTGGTGAGGATTTGAGCTGCGTCCAGCATTGGATATTTGTCAGGAATGCAGATACCCTGAAGGGAACACAACAATGGTCCAAGGGGGTTTCCCAG___AAAAAATCAGACAAAGATATGCAGATCTGCCTGGAGAACTGCACATTATTGAACTTGAAAAAGATAAGAATGGACTTGGACTCAGCCTTGCTGGTAATAAAGACCGATCACGCATGAGCATATTTGTGGTGGGAATTAACCCGGAAGGACCTGCTGCCGCAGATGGACGAATGCGTATTGGAGATGAACTCTTAGAG___ATAAACAATCAGATTCTGTATGGAAGAAGTCACCAAAATGCATCTGCCATTATTAAGACTGCCCCATCAAAGGTCAAGCTGGTTTTCATCAG___AAACGAGGATGCAGTCAATCAGATGGCCGTTACTCCCTTTCCAGTGCCATCAAGTTCTCCATCTTCTATTGAG___GATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTG___GCTGTCAGCCAGATGAAACAGCAAAAATATCCAACAAAAGTCTCCTTCAGTTCACAAGAGATACCATTAGCACCAGCTTCATCATACCATTCAACAGATGCAGACTTCACAGGCTATG___GTGGTTTCCAGGCTCCTCTGTCAGTGGACCCCGCAACGTGTCCCATTGTCCCTG)GACAGGAAATGATTATAGAAATATCCAAGGGACGTTCAGGGCTTGGTCTCAGCATTGTGGGAGGAAAAGACACACCCTTG___TTCTGGAGGCTGGGAAGTCCAAGAGCATGGAGCCAGCATCTGGTGAGGGCCTTCATGCTGCATCATCCTGTGACAGAAGTTGAAGGGCAA|CTTTGTGCCTTGCCATGAAAACCATGAGAATGGAAAGCATGTAACATCTCACTTACAGCTGACACAGAAGGGAAGTGACTCTGAAATATAGACCCTCTCAGCCTCTGGGGAAGATTTATGTGGCGAGGATCACTCTCCTTAGAGTGAGACTGCAG___CAGGAAAAAGGAAGAGACTTTGAGGTCAAAGGGAAGGAGGTGAACAGAGATGGG(AAAAGGCGTTGCAGGTCAACAAGTCCCAGGCTGTTGGACAGTGATCCAGAAAGAGAGTGAGAGCTCAGAGGTGAGCCGCTGTGTGGGAGCTCCTGGAGATACAAGATACAAGGAGTGGGGATTCCCATTCCCCCAGGATGCCAGCCAGAGCACCTGGACCCAGTGAGACCTCTGGGACAGTGGACATCTCAGTAGTGACCAGAAGGTCTCTGGCCCTGCAAAAGCATTTAGGAACTTGTCCACAAACTGGAACTTGTCCACAAATTGTCCAAGACTGAGACAATTCCTCCTGACATGAAAGGGATGGGAACTCACAATTTGATTTAAGTTGATTCACAAAAATAACAAGATGTCATATTCCTCACTTCCTTAGTCTGTGGATTAAGATTCATATCTGCTACTCATTTGACTGCCTACTACGTGTTAGGCAATGCAGTAGGGTTTTCAAACATGTTTTATCATGTAAACTTCAAAACAACACTCCTATGGATTTGAACCAGATTTTACCTGACTCCAAAGTCTGTGAGTATCTCTAAAATAAGGAGAATTAAAGGAATTAAGTGTTAGAGTGTTCTTGCATTTACATTATACATGTGAATTCACTGAATCCTCACAGTCAACATAATATATTTTTAAGTAGATGGACACTGCCTAAGGCCCCTGCTCTGGTTGTGACATTAATTTATTCTCTGTTCTCTAAATGGGTGCTGAAAGACTGGCCTCTACCGAATGGCCTTACCCTCCCACAGTCATGAGTTACACATCCTTGTTCTAAAAGGTCAGCAGAGATCAAGTCTGAGTTCCAGATTTCTAGAAAAGAAACTCTGCTAATTCTTGGCCCAATCAGCTATGCCAGTAGCATGCGGTCAAACAGCATATCCAATCAGATTTTCTCTCCCAACAATATACAATTGTGTCTTAGAGATTCTAATTAGTCTATGCTGGTAACTTGAACTGAAGACATGTAACCTGAATGCTGTGCAGCAGCCATAGCTGGCTGTGTGTGCATATAGATGAAGAGGATGCCAACCTGCAGAGATGGAGGAGAATGATGCACACAGCACATGCCTGTGCTCTGGCTGTTTTTGCCTCACTAGGGCACCTAGGACACCCACTCACCAGGTCCACTTAGAACAAAGTCCCTGCAGAAAATATTACAAGAGTATTAACATAGCCCTGGGGCAATCTGGTTGTGTGCCAGTGTGCTGCCATGCTGAGGTCAATTGGTTTTAGATCTTTCTACCAATGGGGATAGAGAAGAACACATTTGCCAGGTCAATAATCACACACCAAGGGCCAGAAATAGTGATGATCTACTCCAGTGAAGATATAAATTAATCAGAGAAGCTGCAACTGGGGCTAACAACTGGTTCAACTTACAGTAATTCATTATCATTTGCCATGCTCTTTCTTTTTTCAGAGACCAGATAGGTAACTTAAATAGGTATGTGATAGAGACTACCACCTTGCAACCTTTAAGTCTTTTGAAGATAGAACTAATTTCCACAATACCAGAAGACAAAGAGACAAGTTATAAAGGATCCTACTTTGTCCTTCCTGCCACAGTGACCTTACTCCATACATCAGGGACCCAATGCAAGAGTTCCAGCAGCTGCTAAGTACACCTATCCCAATTATACATGCAGGAACTAGATATACAACCATACGGTGAGTCTGCAAGTACATTGGACCCAAAATGAGACAGTTTTGGGCAGTACCCCATTTATCTCCTAGCTTCCGTAAGTCCCACCCTAAACAGATAACCATGATGGTATTTGGGGTATCACGGTCCTATGGATTAAATGTTTGTCTCCTCCCAAACTCAAATTTAAATTTAATTGCCATTGTAACAGTATTAAGAGGTGATTAGGCTATGAGGGCTGTGCACTCACTCATAGGTTAATGCTATTATTTGGGGAGTAGGTTCATTATCAAGGGAGCAGGTTTCTTATAAAAGGATGAGTTAGGCCTCCTTCTGCCTCTCTCTGTCACCTACCTTTTGCTCTTCTGTCATGGGATGATGCAGGAAGAATTCCCTAGCAAGATACCACCTCCTCAATCTTGGACTTCTCAGCCTCCAG)$ MVQGGFPEKIRQRYADLPGELHIIELEKDKNGLGLSLAGNKDRSRMSIFVVGINPEGPAAADGRMRIGDELLEINNQILYGRSHQNASAIIKTAPSKVKLVFIRNEDAVNQMAVTPFPVPSSSPSSIEDQSGTEPISSEEDGSVEVGIKQLPESESFKLAVSQMKQQKYPTKVSFSSQEIPLAPASSYHSTDADFTGYGGFQAPLSVDPATCPIVPGQEMIIEISKGRSGLGLSIVGGKDTPLFWRLGSPRAWSQHLVRAFMLHHPVTEVEGQ|lcalp* 05BR045 ENSG00000132849.20 ENSG00000284808.1 +/+ +/+ chr1:62084648 chr1:61523959 CDS/splice-site exon/splice-site duplication 0 1 1 62 86 medium out-of-frame . L27_2(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%)| . . ENSG00000132849.20 ENSG00000284808.1 ENST00000642238.1 ENST00000647399.1 downstream upstream duplicates(1) ^(GCCCCGCCCCGGGCGGGGAGAGTCGGGGCGAGGGGAGGGCCTGCCAGGTGAGGCGCGGTCACCCTGGGCCTCTCACTTCCGCCCAGGTGAGGCAGGGCCGACACCGAGCCCGCCCGACCCGGGCTCCCACCTGCTCCTCCAGCGCACCAG___GTGTCTTTAAGAGTGATTGAAGAGAATAATTCAAAATGCCTGAAAATCCTGCTACAG___ATAAACTGCAGGTGCTGCAGGTACTTGATCGCCTGAAAATGAAATTGCAGGAGAAGGGTGACACGTCGCAGAATGAGAAGTTATCTATGTTTTATGAGACACTAAAGAGTCCTCTCTTCAACCAGATACTCACACTTCAGCAGTCCATCAAGCAACTGAAGGGTCAA___CTCAACCATATACCCTCAGATTGTTCAGCCAACTTTGATTTTTCTAGGAAAGGTTTGTTAGTGTTCACAGATGGTTCCATCACTAATGGAAATGTCCACAGGCCCTCTAATAACTCGACTGTATCTGGGTTATTTCCGTGGACCCCGAAGTTGGGAAATGAAGACTTTAACTCAGTCATTCAACAGATGGCTCAG___GGCCGGCAAATTGAATATATAGATATAGAACGGCCTTCAACTGGAGGCCTTGGATTCAGTGTGGTGGCCCTCAGAAGTCAAAATCTCGGAAAAGTTGATATCTTCGTGAAGGATGTCCAGCCAGGGAGTGTAGCAGACAG___GGATCAAAGATTAAAGGAAAATGATCAAATATTGGCCATTAATCACACGCCATTGGATCAGAACATTTCCCATCAGCAAGCAATTGCATTATTACAACAAACCACTGGATCTTTGAGACTGATTGTGGCCAGGGAACCAGTCCACACAAAAAGCAGTACTTCTAGCAGCCTAAATGATACAACTCTGCCTGAAACA___GTTTGTTGGGGCCATGTTGAAGAGGTTGAGCTCATTAATGATGGCTCTGGACTAGGTTTTGGAATAGTTGGAGGAAAAACAAGTGGCGTGGTTGTGAGGACTATAGTTCCTGGAGGATTAGCAGATCGA___GATGGAAGACTCCAGACAGGGGACCACATCTTGAAGATTGGTGGCACAAACGTGCAGGGAATGACCAGTGAGCAAGTTGCACAAGTTCTAAGGAACTGTGGGAATTCAGTCAGGATGCTCGTTGCTAGAGATCCAGCTGGTGACATTTCAGTCACCCCCCCTGCCCCTGCAGCCTTACCTGTTGCCCTGCCTACTGTAGCCAGCAAGGGCCCTGGTTCT___GACAGTTCTCTTTTTGAAACTTATAATGTTGAGCTTGTGAGAAAAGATGGGCAGAGTCTTGGAATTAGAATTGTTGGCTATGTTGGAACATCTCATACAG___GGGAAGCTTCAGGGATTTATGTGAAAAGTATAATACCTGGCAGTGCTGCGTACCACAATGGCCACATTCAAGTGAATGACAAAATAGTTGCT___GTCGATGGCGTGAACATTCAGGGTTTTGCCAACCATGATGTTGTTGAAGTATTACGAAATGCAGGGCAGGTGGTACACCTAACCCTAGTTCGAAGGAAGACATCCTCATCTACTTCTCCACTTGAACCACCTTCAGACAGAG___GAACTGTTGTAGAACCACTGAAACCACCAGCTCTCTTTCTAACTGGAGCAGTGGAAACTGAAACTAATGTGGATGGTGAAGATGAGGAAATTAAAGAAAGAATTGATACTTTAAAAAATGACAACATACAAGCCTTAGAAAAATTGG___AAAAAGTCCCAGACTCTCCAGAAAATGAGCTGAAATCCAGATGGGAAAACCTGTTGGGTCCTGATTATGAAGTAATG___GTTGCTACTTTGGACACACAGATTGCAGATGATGCTGAGTTACAGAAATATTCAAAG___CTGCTGCCTATTCACACTCTGAGGCTTGGTGTGGAAGTGGATTCCTTTGATGGGCACCATTATATTTCTTCAATTGTTTCTGGTGGTCCTGTTGATACATTGGGTCTCCTACAGCCAGAAGATGAGCTGCTTGAG___GTCAATGGCATGCAGCTTTATGGAAAATCTCGCCGAGAAGCAGTCTCCTTTCTTAAAGAAGTGCCACCCCCTTTTACTTTGGTTTGCTGTCGGAGGTTGTTTGATGATGAAGCTTCTGTAGATGAACCAAGGCGCACTGAAACCTCTCTTCCTGAGACAGAG___GTTGACCACAATATGGATGTCAATACTGAAGAAGATGATGATGGGGAATTAGCACTGTGGTCCCCTGAAGTCAAGATTGTTGAACTAGTAAAAGATTGTAAAGGTTTGGGATTCAGCATTTTGGATTACCAG___GACCCTTTAGATCCTACAAGATCAGTGATTGTGATCCGCTCCCTGGTAGCAGATGGTGTAGCAGAAAGAAGTGGGGGACTATTACCTGGAGACCGCCTGGTCTCAGTCAATGAATACTGTTTGGACAACACCTCACTTGCTGAAGCTGTGGAAATATTGAAAGCTGTGCCACCAGGCCTAGTACACCTTGGCATCTGTAAGCCTTTGGTG___GAAGATAATGAAGAAGAAAGTTGTTATATTTTACATTCAAGCAGTAATGAAGACAAGACTGAATTTTCAGGAACAATTCATGATATAAATTCATCTTTAATACTCGAAGCACCCAAG___GGATTTAGAGATGAACCATATTTTAAAGAAGAACTTGTGGATGAACCATTTCTAGATCTGGGAAAGTCTTTCCATTCCCAACAAAAAGAGATAGAGCAAAGCAAGGAGGCCTGGGAGATGCATGAATTTCTGACTCCTAGATTGCAGGAAATGGATGAAGAAAGAGAAATTCTTGTTGATGAAGAATATGAGTTATATCAAGATCCCTCACCATCCATGGAGTTGTATCCCTTGTCGCACATTCAAGAGGCCACTCCTGTGCCCTCTGTGAATGAACTTCACTTTGGTACACAGTGGTTGCATGATAATGAACCATCCGAGTCTCAAGAGGCAAGAACCGGGAGGACTGTCTATTCCCAGGAGGCACAGCCGTATGGCTATTGCCCTGAAAATGTG___ATGAAAGAAAATTTTGTCATGGAGTCCCTACCATCTGTACCATCAACTGAAGGAAACAGTCAACAAGGCAGATTTGACGACCTGGAAAATCTTAATTCATTAGCAAAAACTAGTCTGGATTTAG___GCATGATCCCGAATGATGTCCAAGGTCCTAGCTTGCTCATTGACCTTCCTGTTGTGGCTCAAAGGAGGGAGCAAGAAGATTTGCCTTTATATCAACACCAAGCGACACGAGTTATTTCCAAGGCCTCAGCATACACAGGAATGTTGTCTTCTAGATATGCCACTGATACATG___TGAGTTACCTGAGAGAGAAGAAGGCGAAGGAGAAGAAACTCCAAATTTTAGCCACTGGGGTCCACCGAGAAT___TGTTGAGATTTTTAGAGAACCCAATGTGTCTCTTGGGATCAGTATTGTTGGTGGACAAACTGTTATAAAACGTCTAAAGAATGGAGAGGAGCTTAAAGGTATATTCATCAAACAAGTTTTAGAAGACAGTCCAGCAGGGAAGACGAACGCACTTAAAACTGGAGATAAAATACTTGAG___GTGTCTGGAGTAGATTTGCAGAATGCCTCACACAGCGAAGCAGTTGAGGCCATTAAGAATGCAGGAAACCCTGTGGTGTTCATTGTTCAGAGTTTGTCATCCACTCCACGA___GTCATTCCTAACGTACATAACAAGGCCAACAAAATCACCGGTAACCAGAACCAGGACACCCAAGAAAAGAAAGAAAAG___AGGCAAGGAACTGCTCCACCGCCAATGAAACTTCCTCCTCCTTATAAAGCTCTGACTGATGACAGTGATGAAAATGAAGAAGAAGATGCCTTTACCGACC___AAAAAATCAGACAAAGATATGCAGATCTGCCTGGAGAACTGCACATTATTGAACTTGAAAAAGATAAGAATGGACTTGGACTCAGCCTTGCTGGTAATAAAGACCGATCACGCATGAGCATATTTGTGGTGGGAATTAACCCGGAAGGACCTGCTGCCGCAGATGGACGAATGCGTATTGGAGATGAACTCTTAGAG___ATAAACAATCAGATTCTGTATGGAAGAAGTCACCAAAATGCATCTGCCATTATTAAGACTGCCCCATCAAAGGTCAAGCTGGTTTTCATCAG___AAACGAGGATGCAGTCAATCAGATGGCCGTTACTCCCTTTCCAGTGCCATCAAGTTCTCCATCTTCTATTGAG___GATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTG___GCTGTCAGCCAGATGAAACAGCAAAAATATCCAACAAAAGTCTCCTTCAGTTCACAAGAGATACCATTAGCACCAGCTTCATCATACCATTCAA)CAGATGCAGACTTCACAGGCTATG___GTGGTTTCCAGGCTCCTCTGTCAGTGGACCCCGCAACGTGTCCCATTGTCCCTGGACAGGAAATGATTATAGAAATATCCAAGGGACGTTCAGGGCTTGGTCTCAGCATTGTGGGAGGAAAAGACACACCCTTG|CTTTGTGCCTTGCCATGAAAACCATGAGAATGGAAAGCATGTAACATCTCACTTACAGCTGACACAGAAGGGAAGTGACTCTGAAATATAGACCCTCTCAtCCTCTGGGGAAGATTTATGTGGCGAGGATCACTCTCCTTAGAGTGAGACTGCAG___CAGGAAAAAG(GAAGAGACTTTGAGGTCAAAGGGAAGGAGGTGAACAGAGATGGGAAAAGGCGTTGCAGGTCAACAAGTCCCAGGCTGTTGGACAGTGATCCAGAAAGAGAGTGAGAGCTCAGAGGTGAGCCGCTGTGTGGGAGCTCCTGGAGATACAAGATACAAGGAGTGGGGATTCCCATTCCCCCAGGATGCCAGCCAGAGCACCTGGACCCAGTGAGACCTCTGGGACAGTGGACATCTCAGTAGTGACCAGAAGGTCTCTGGCCCTGCAAAAGCATTTAGGAACTTGTCCACAAACTGGAACTTGTCCACAAATTGTCCAAGACTGAGACAATTCCTCCTGACATGAAAGGGATGGGAACTCACAATTTGATTTAAGTTGATTCACAAAAATAACAAGATGTCATATTCCTCACTTCCTTAGTCTGTGGATTAAGATTCATATCTGCTACTCATTTGACTGCCTACTACGTGTTAGGCAATGCAGTAGGGTTTTCAAACATGTTTTATCATGTAAACTTCAAAACAACACTCCTATGGATTTGAACCAGATTTTACCTGACTCCAAAGTCTGTGAGTATCTCTAAAATAAGGAGAATTAAAGGAATTAAGTGTTAGAGTGTTCTTGCATTTACATTATACATGTGAATTCACTGAATCCTCACAGTCAACATAATATATTTTTAAGTAGATGGACACTGCCTAAGGCCCCTGCTCTGGTTGTGACATTAATTTATTCTCTGTTCTCTAAATGGGTGCTGAAAGACTGGCCTCTACCGAATGGCCTTACCCTCCCACAGTCATGAGTTACACATCCTTGTTCTAAAAGGTCAGCAGAGATCAAGTCTGAGTTCCAGATTTCTAGAAAAGAAACTCTGCTAATTCTTGGCCCAATCAGCTATGCCAGTAGCATGCGGTCAAACAGCATATCCAATCAGATTTTCTCTCCCAACAATATACAATTGTGTCTTAGAGATTCTAATTAGTCTATGCTGGTAACTTGAACTGAAGACATGTAACCTGAATGCTGTGCAGCAGCCATAGCTGGCTGTGTGTGCATATAGATGAAGAGGATGCCAACCTGCAGAGATGGAGGAGAATGATGCACACAGCACATGCCTGTGCTCTGGCTGTTTTTGCCTCACTAGGGCACCTAGGACACCCACTCACCAGGTCCACTTAGAACAAAGTCCCTGCAGAAAATATTACAAGAGTATTAACATAGCCCTGGGGCAATCTGGTTGTGTGCCAGTGTGCTGCCATGCTGAGGTCAATTGGTTTTAGATCTTTCTACCAATGGGGATAGAGAAGAACACATTTGCCAGGTCAATAATCACACACCAAGGGCCAGAAATAGTGATGATCTACTCCAGTGAAGATATAAATTAATCAGAGAAGCTGCAACTGGGGCTAACAACTGGTTCAACTTACAGTAATTCATTATCATTTGCCATGCTCTTTCTTTTTTCAGAGACCAGATAGGTAACTTAAATAGGTATGTGATAGAGACTACCACCTTGCAACCTTTAAGTCTTTTGAAGATAGAACTAATTTCCACAATACCAGAAGACAAAGAGACAAGTTATAAAGGATCCTACTTTGTCCTTCCTGCCACAGTGACCTTACTCCATACATCAGGGACCCAATGCAAGAGTTCCAGCAGCTGCTAAGTACACCTATCCCAATTATACATGCAGGAACTAGATATACAACCATACGGTGAGTCTGCAAGTACATTGGACCCAAAATGAGACAGTTTTGGGCAGTACCCCATTTATCTCCTAGCTTCCGTAAGTCCCACCCTAAACAGATAACCATGATGGTATTTGGGGTATCACGGTCCTATGGATTAAATGTTTGTCTCCTCCCAAACTCAAATTTAAATTTAATTGCCATTGTAACAGTATTAAGAGGTGATTAGGCTATGAGGGCTGTGCACTCACTCATAGGTTAATGCTATTATTTGGGGAGTAGGTTCATTATCAAGGGAGCAGGTTTCTTATAAAAGGATGAGTTAGGCCTCCTTCTGCCTCTCTCTGTCACCTACCTTTTGCTCTTCTGTCATGGGATGATGCAGGAAGAATTCCCTAGCAAGATACCACCTCCTCAATCTTGGACTTCTCAGCCTCCAG)$ MPENPATDKLQVLQVLDRLKMKLQEKGDTSQNEKLSMFYETLKSPLFNQILTLQQSIKQLKGQLNHIPSDCSANFDFSRKGLLVFTDGSITNGNVHRPSNNSTVSGLFPWTPKLGNEDFNSVIQQMAQGRQIEYIDIERPSTGGLGFSVVALRSQNLGKVDIFVKDVQPGSVADRDQRLKENDQILAINHTPLDQNISHQQAIALLQQTTGSLRLIVAREPVHTKSSTSSSLNDTTLPETVCWGHVEEVELINDGSGLGFGIVGGKTSGVVVRTIVPGGLADRDGRLQTGDHILKIGGTNVQGMTSEQVAQVLRNCGNSVRMLVARDPAGDISVTPPAPAALPVALPTVASKGPGSDSSLFETYNVELVRKDGQSLGIRIVGYVGTSHTGEASGIYVKSIIPGSAAYHNGHIQVNDKIVAVDGVNIQGFANHDVVEVLRNAGQVVHLTLVRRKTSSSTSPLEPPSDRGTVVEPLKPPALFLTGAVETETNVDGEDEEIKERIDTLKNDNIQALEKLEKVPDSPENELKSRWENLLGPDYEVMVATLDTQIADDAELQKYSKLLPIHTLRLGVEVDSFDGHHYISSIVSGGPVDTLGLLQPEDELLEVNGMQLYGKSRREAVSFLKEVPPPFTLVCCRRLFDDEASVDEPRRTETSLPETEVDHNMDVNTEEDDDGELALWSPEVKIVELVKDCKGLGFSILDYQDPLDPTRSVIVIRSLVADGVAERSGGLLPGDRLVSVNEYCLDNTSLAEAVEILKAVPPGLVHLGICKPLVEDNEEESCYILHSSSNEDKTEFSGTIHDINSSLILEAPKGFRDEPYFKEELVDEPFLDLGKSFHSQQKEIEQSKEAWEMHEFLTPRLQEMDEEREILVDEEYELYQDPSPSMELYPLSHIQEATPVPSVNELHFGTQWLHDNEPSESQEARTGRTVYSQEAQPYGYCPENVMKENFVMESLPSVPSTEGNSQQGRFDDLENLNSLAKTSLDLGMIPNDVQGPSLLIDLPVVAQRREQEDLPLYQHQATRVISKASAYTGMLSSRYATDTCELPEREEGEGEETPNFSHWGPPRIVEIFREPNVSLGISIVGGQTVIKRLKNGEELKGIFIKQVLEDSPAGKTNALKTGDKILEVSGVDLQNASHSEAVEAIKNAGNPVVFIVQSLSSTPRVIPNVHNKANKITGNQNQDTQEKKEKRQGTAPPPMKLPPPYKALTDDSDENEEEDAFTDQKIRQRYADLPGELHIIELEKDKNGLGLSLAGNKDRSRMSIFVVGINPEGPAAADGRMRIGDELLEINNQILYGRSHQNASAIIKTAPSKVKLVFIRNEDAVNQMAVTPFPVPSSSPSSIEDQSGTEPISSEEDGSVEVGIKQLPESESFKLAVSQMKQQKYPTKVSFSSQEIPLAPASSYHSTDADFTGYGGFQAPLSVDPATCPIVPGQEMIIEISKGRSGLGLSIVGGKDTPL|lcalp* 05BR045 ENSG00000066739.12 ENSG00000258702.3(26043),ENSG00000223299.1(16381) -/- ./- chr14:96341522 chr14:96621806 CDS/splice-site intergenic duplication 1 1 0 15 17 high out-of-frame . N-terminal_region_of_Chorein_or_VPS13(100%)| . . ENSG00000066739.12 . ENST00000359933.6 . upstream downstream duplicates(1) ^(ACAGCCGGGAACGCGCCTCGCGGATGACAACAAATTCGTCGCGCGGCGGCAGTGGCGGTGGCTGCCTCAGCCCCTGCCGCCTCCTCTCGCGCTCTCTTGCACTCTCTCCGAGCCGGTTGGGACCCTCCTCGGAAGTCCCCTGGCCTGGGGCCAGGAGGACCCCTCTGCGTCTTGCCTCCGCCAGGCCCAGCGCGAGCGGTGCGGCGCCGGCGATGGGGTCTCCCTGAGGGACTCCCGGCACCAAATAGGGATGGAGGGGCCGCCCCAGGCTTAGGCCCCGCCGCGGCCTGGAGCCGGAGTCGCTACCCCGAGGCCGGAGCCGTCGCAACCCGCAGCCGCAGTCAGCCCAGCTGCCAGCAGTCACTATGCCTTGGCCGTTTTCGGAGTCCATCAAGAAGAGGGCCTGCCGGTACCTCCTGCAGAGGTACCTGGGCCACTTTCTGCAGGAGAAGCTGAGCCTGGAGCAGCTCAGCCTGGACCTGTACCAAGGCACCGGGTCCCTCGCCCAGGTCCCCTTGGACAAATGG___TGTCTCAATGAGATCTTGGAGTCAGCAGATGCACCCTTAGAAGTCACTGAAGGATTCATTCAGTCAATTTCCCTGTCAGTTCCATGGGGCTCTTTACTGCAGGATAATTGTGCACTGGAAGTGAGAGGATTAGAAATGGTCTTCCGGCCTAGACCTCGCCCAG___CAACTGGTTCTGAGCCTATGTATTGGTCAAGTTTTATGACCAGCAGTATGCAATTGGCAAAAGAATGTCTTAGCCAGAAACTAACAGATGAACAAGGAGAAGGATCCCAGCCTTTTGAAGGACTTGAAAAGTTTGCTGAAACCATTGAAACAG___TACTAAGAAGAGTAAAAGTCACTTTTATAGATACTGTTTTGAGAATTGAACATGTGCCAGAAAATTCCAAAACTGGAACTGCACTTGAAATTCGAATAGAAAG___AACTGTGTACTGTGATGAAACTGCTGACGAATCCTCAGGAATTAATGTGCATCAACCCACTGCTTTTGCTCACAAGTTACTTCAGCTCTCTGGAGT)GTCTCTCTTCTGGGATGAGTTTTCTGCATCAGCCAAATCTTCCCCAGTGTGTTCAACTGCACCAGTG___GAAACTGAGCCAAAGCTCTCACCTAGCTGGAACCCCAAAATTATTTATGAGCCACACCCACAGCTAACTAGAAATTTACCAGAGATAGCACCTTCTGACCCAGTGCAGATTGGACGGTTAATTGGTAGGTTGGAGTTGAGTCTCACGTTGAAACAGAATGAAGTGCTTCCTGGAGCTAAG|GTGGAGTCAATTTCCAAAAGGACAAAGATGGAAGCTGCAAGGTCTCTTGACACCTAGGCCCCGAAGTTGCACAGCATCACGTCTGCCACATTCTGTCGGTCAAAGCAAGTCACAAAGCCGGC MPWPFSESIKKRACRYLLQRYLGHFLQEKLSLEQLSLDLYQGTGSLAQVPLDKWCLNEILESADAPLEVTEGFIQSISLSVPWGSLLQDNCALEVRGLEMVFRPRPRPATGSEPMYWSSFMTSSMQLAKECLSQKLTDEQGEGSQPFEGLEKFAETIETVLRRVKVTFIDTVLRIEHVPENSKTGTALEIRIERTVYCDETADESSGINVHQPTAFAHKLLQLSGVSLFWDEFSASAKSSPVCSTAPVETEPKLSPSWNPKIIYEPHPQLTRNLPEIAPSDPVQIGRLIGRLELSLTLKQNEVLPGAK|vesiskrtkmeaarsldt* 05BR045 ENSG00000169129.15 ENSG00000151553.15 -/- +/- chr10:114404440 chr10:114859709 CDS/splice-site intron duplication/5'-5' 1 1 0 5 3 high out-of-frame . . . . ENSG00000169129.15 ENSG00000151553.15 ENST00000369271.7 . upstream downstream duplicates(1) ^(GTGCCAAGGCGGCCGGGGGCGGCGAGCGGGGCCGCGGGCGCGCACCGACTCAAGAGCCGACTGTCAGCCTCGGCGGGCCGGAGTTCTCCGGCGCTGGGACAGGGGCGCTGGGACAGGGGCGCTGGGGGCGAGCCCTGGCGGGGGCCAGGTCCGAGGACCCTGGGCGCGGCGGCCCCGCC)AGGAGGTCCGGCCGCGAGCGTGACCTCACGGGGAGGGGCCAGCGCGGCGGCCTGGGCGCTGAGCCGAGCGCCGGGAGAGCAGCGCAGAAGCCGAGCCGCGAGGAGCGCACTCCGTGGCCCCGATGGAGCGGTACAAAG|AAAGGGGCTTTACAGAGTCATGTCAACAAAGCAAAAGGCACACTACACAAGGAGTTGCTACTACTTGCTCAGAACTTTCAATAGAAACTTCTCACCCCTTCCAGTTTGCTTCTTCTAAGCAGCCAAAGGAAACGGATTGGTTGCAACAAAACTAACTACAGTGAGGAGGCTGCAGAGAACCCAGGTGGCAAGAGTGAGACAGACACTGCAG MERYK|ergftescqqskrhttqgvattcselsietshpfqfasskqpketdwlqqn* 05BR045 ENSG00000077157.22 ENSG00000215853.3 +/+ -/- chr1:202349142 chr1:152157909 CDS/splice-site 5'UTR/splice-site inversion 1 0 1 12 3 high out-of-frame . Ankyrin_repeats_(3_copies)(100%)|S-100/ICaBP_type_calcium_binding_domain(100%) . . ENSG00000077157.22 ENSG00000215853.3 ENST00000391959.5 ENST00000316073.3 downstream downstream . ^(GGTACTACTGGCGGGAGGAGTAAAGATGGCGGCGCGAGGGTCTCCGCCCTCTGCTCCGGGCTGAAGCGCTCTGAGAGAGGCGGCAGCGGCAACTCGAGCCCCAACAGTAATTTAGTGTTGGTAGTTTTGGCAGCAGCTGCCGAGGCCGGAGCAATGGCGGAACTGGAGCACCTAGGAGGGAAGCGGGCAGAGTCGGCGCGAATGCGGCGGGCAGAGCAGCTTCGGCGCTGGCGGGGCTCGCTGACAGAGCAGGAGCCT)GCGGAGCGACGAGGCGCGGGGCGGCAGCCGCTGACCAGGCGCGGGAGCCCCAGGGTCCGCTTCGAGGACGGTGCTGTCTTTCTGGCCGCCTGCTCTAGCGGGGACACCGACGAGGTGAGAAAGCTTCTGGCAAGAGGTGCTGATATCAACACGGTCAACGTGGACGGCTTGACAGCCCTGCACCAG|GTTCACCCGTACTTGTCAAAATGGCTCAAC(TCCTGAATAGCATACTCAGTGTGATTGACGTATTCCACAAATATGCCAAAGGGAATGGGGACTGTGCCTTACTATGCAAGGAAGAGTTGAAACAACTGCTCTTGGCTGAGTTTGGAGACATCCTCCAG___AGACCAAATGACCCAGAGACTGTGGAAACCATCTTGAACCTCTTAGATCAAGACCGAGATGGACATATTGATTTTCATGAGTACCTCTTGTTGGTGTTCCAGTTGGTCCAAGCCTGCTATCATAAGCTAGACAATAAGTCACATGGAGGCAGGACCTCACAGCAAGAAAGGGGGCAGGAAGGAGCACAAGACTGTAAGTTCCCAGGAAACACAGGCAGACAACACAGACAGAGGCACGAGGAAGAAAGGCAGAACTCCCACCACAGTCAGCCTGAGAGACAAGACGGAGATTCCCACCATGGTCAGCCTGAGAGACAAGACAGAGATTCCCACCATGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCACAGTCAGCCTGAGAGACAAGACAGAGATTCTCACCACAATCAGTCTGAGAGACAAGACAAGGATTTCAGCTTTGATCAGTCAGAGAGACAAAGTCAAGACTCCAGCTCTGGTAAAAAAGTGAGTCACAAATCTACCAGTGGCCAGGCTAAATGGCAGGGACATATCTTTGCCTTAAATCGGTGTGAAAAACCAATTCAGGATTCTCATTATGGTCAGTCTGAAAGACATACACAACAATCTGAAACACTTGGACAAGCCTCTCACTTTAACCAGACAAATCAACAGAAATCAGGCTCTTATTGTGGACAGTCTGAGAGGCTAGGTCAGGAATTAGGCTGTGGTCAGACAGACAGACAAGGCCAGAGTTCCCACTACGGTCAGACGGACAGACAAGACCAGAGTTATCATTATGGTCAGACAGACAGACAAGGCCAGAGTTCCCACTACAGTCAGACGGACAGACAAGGCCAGAGTTCCCACTACAGTCAGCCAGACAGACAAGGTCAGAGTTCCCACTATGGTCAAATGGACAGAAAAGGCCAGTGTTATCATTATGATCAGACAAACAGACAAGGCCAGGGTTCCCACTACAGTCAACCAAACAGACAAGGTCAGAGTTCCCACTATGGTCAGCCAGACACACAAGATCAGAGTTCTCACTATGGTCAGACAGACAGACAAGACCAAAGTTCTCACTATGGTCAGACAGAGAGACAAGGCCAGAGTTCCCACTACAGTCAGATGGACCGACAAGGCCAGGGTTCTCACTACGGTCAGACAGACAGACAAGGCCAGAGTTCCCACTATGGTCAGCCAGACAGACAAGGCCAGAATTCCCACTATGGTCAGACAGACAGACAAGGCCAGAGTTCCCACTATGGTCAGACAGACAGACAAGGCCAGAGTTCCCACTACAGTCAGCCAGACAAACAAGGCCAGAGTTCCCACTATGGTAAGATAGACAGACAAGACCAGAGTTATCATTATGGTCAGCCAGACGGACAAGGCCAAAGTTCCCACTATGGTCAGACAGACAGACAAGGCCAGAGTTTCCACTATGGTCAGCCAGACAGACAAGGCCAGAGTTCCCACTACAGTCAGATGGACAGACAAGGCCAGAGTTCCCACTATGGTCAGACAGACAGACAAGGCCAGAGTTCCCACTACGGTCAGACAGACAGACAAGGCCAGAGCTATCATTATGGTCAGACAGACAGACAAGGCCAGAGTTCCCACTATATTCAATCACAGACTGGGGAAATACAAGGGCAAAATAAGTACTTCCAAGGGACTGAAGGAACAAGAAAAGCCTCTTATGTTGAACAATCAGGAAGATCAGGGAGGCTAAGTCAACAGACTCCAGGACAGGAAGGGTACCAAAACCAGGGACAGGGATTCCAGTCTAGGGACTCACAGCAGAACGGCCACCAGGTATGGGAGCCTGAAGAGGATAGCCAACATCACCAACACAAACTCTTAGCACAAATCCAACAAGAAAGACCACTTTGTCACAAAGGGAGAGACTGGCAATCATGCAGTAGTGAGCAGGGCCACAGACAGGCCCAGACCAGGCAGAGTCATGGTGAGGGGCTGAGCCACTGGGCAGAGGAAGAGCAGGGCCATCAAACTTGGGATAGACACAGCCATGAGAGTCAGGAAGGTCCATGTGGGACACAGGACAGGCGAACCCATAAAGATGAGCAGAACCATCAGAGACGAGACAGACAAACCCATGAACATGAGCAGAGCCATCAGAGACGAGACAGGCAAACCCATGAAGACAAGCAGAACCGTCAGAGACGAGACAGGCAAACCCATGAAGACGAGCAGAACCATCAGAGATGAGACAGGCAAACTCATGAAGAGGATCAAAACCATCAGCAACAACATAATAGACAAAACTATGAGGAGAAAGAGAGGTATCAAGGATCTCAGAATCAAAAATCCCAAGTGACCCACAGAAGCTGTCCTAACAGAGAAAAATTCCACATGAAAGAGGATGACCAGAGCCAAGGCTCACAGAAAAGACACACTGAACCATCCTTCTATCCAACCCAGAGCAGTGGGAGGCCCCAAACCAGAGAACAGCGTGGTCACCCTGCCAAGGGAGCTACTGTTCCCAACCCCCCCTATGACTATGTGCAAGAGCAGAAATCCTACCCATACTAGGCTATGTGAGCACCAGAGGTAAAGCAACACAAAGCCAAAAAAGAAACCTATATGTCGAGTTCACCTTTAATTCGATTTAAGAGATTGAGAATGTATTTCTTCCCTCTATCCTCTGCTGTATCTCCCTGCAAGGATGTTTTTGAGTACTAGCATTCACGTAAGGGCTTTTGGTTCTTTGAGCAGCAATTCTAGGGTTTTCTGATTCAGTGAAATCTAGGTGGTAAATTGGGTGAAATAATCATATCTTAATGTTGATCAGTTTGGGTATTTAAATCATTTCCTGCTTTGCCCTCTGTGTAGATGAGACCTGGTTGAATCATTGAAAGGTAGAACACTTCTCCCTAAAGTTCAGAAACAGAAAAGATATTCTGAAGATTTACATTACATCCAAGGATTATACTACATCTCCACTCCTCAAGGAACCCTAGATTTGGTGAGCTTTGGCTCCTGTGGATAAAACATCAGGAATTTCAAGCCTCATAGTCTAGACTAGAATGAAACTCAGTTCAAGGCTGCTACAAGAGCCGAGAACATAGAGTGCATCTCTGATGTTTACTACATCTCCCATGCCAGGCTCTTATTCCACACCAGAGGGACTGTCCATTAGTGCCTATCACTAGAGCTGAATGGACCCATTCCAATTCAATACCTTTCTAGTTTCTGATTATATAAAATAAAGAGAAAGTATATGTCATATGTTTGCAAATTCCAGGGGATCAAGACTATTGATTCATAGCTCCTAAGACCTGAAAACTCTTCTCAAGAAAATCTATGTGCAGATTATGAATTGTATTAAAATATCTAATAAATAATTGATGAGCAATA)$ MAELEHLGGKRAESARMRRAEQLRRWRGSLTEQEPAERRGAGRQPLTRRGSPRVRFEDGAVFLAACSSGDTDEVRKLLARGADINTVNVDGLTALHQ|vhpylskwlns* 05BR045 ENSG00000153246.13 ENSG00000153250.20(257512),ENSG00000279844.1(97994) -/- ./- chr2:160013263 chr2:160751319 CDS/splice-site intergenic duplication 1 1 0 86 1 high out-of-frame . Fibronectin_type_II_domain(100%),Lectin_C-type_domain(100%)| . . ENSG00000153246.13 . ENST00000283243.13 . upstream downstream . ^(AGAGCCCCGAGTGTCGGTTCACTGTGGAGACAGCGGTGGCGGAGTGGGTCTCCAGGGCTCTGGGCTGGCAAGGCCCCCGGAGGGGGTGGGGCGCGGAGGAGGCTACGGATCCGCTTCCGCGCGGCGGGGCCGGGTGCTTGGGACGCGGCTCTGGGCTCCCGGGATAAGGGGCTCCCGGGACAAGGGGCTCCCGGAGAGCCCAGTGGTTAGCGATGCTGCTGTCGCCGTCGCTGCTGCTGCTGCTGCTGCTGGGGGCGCCGCGGGGCTGCGCCGAGGGTGTGGCGGCGGCGCTTACCCCCGAGCGGCTCCTGGAGTGGCAGG___ATAAAGGAATATTTGTTATCCAAAGTGAGAGTCTCAAGAAATGCATTCAAGCAGGTAAATCGGTTCTGACCCTGGAGAACTGCAAGCAAGCAAACAAGCACATGCTGTGGAAATGGGTTTCAAACCATGGCCTCTTTAACATAGGAGGCAGTGGTTGCCTGGGCCTGAATTTCTCCGCCCCAGAGCAGCCATTAAGCTTATATGAATGTGACTCCACCCTCGTTTCCTTACGGTGGCGCTGTAACAGGAAGATGATCACAGGCCCGCTGCAGTACTCTGTCCAGGTGGCGCATGACAACACAGTGGTGGCCTCACGGAAGTATATTCATAAGTGGATTTCTTATGGGTCAGGTGGTGGAGACATTTGTGAATATCTACACAAAG___ATTTGCATACAATCAAAGGGAACACCCACGGGATGCCGTGTATGTTTCCCTTCCAGTATAACCATCAGTGGCATCATGAATGTACCCGTGAAGGTCGGGAAGATGACTTACTGTGGTGTGCCACGACAAGCCGTTATGAAAGAGATGAAAAGTGGGGATTTTGCCCTGATCCCA___CCTCTGCAGAAGTAGGTTGTGATACTATTTGGGAGAAGGACCTCAATTCACACATTTGCTACCAGTTCAACCTGCTTTCATCTCTCTCTTGGAGTGAGGCACATTCTTCATGCCAGATGCAAGGAGGTACGCTGTTAAGTATTACAGATGAAACTGAAGAAAATTTCATAAGGG___AGCACATGAGCAGTAAAACAGTGGAGGTGTGGATGGGCCTCAATCAGCTGGATGAACACGCTGGCTGGCAGTGGTCTGATGGAACGCCGCTCAACTATCTGAATTGGAGCCCAG___AGGTAAATTTTGAGCCATTTGTTGAAGATCACTGTGGAACATTTAGTTCATTTATGCCAAGTGCCTGGAGGAGTCGGGATTGTGAGTCCACCTTGCCATATATATGTAAAAAATATCTAAACCACATTGATCATGAAATAGTTG___AAAAAGATGCGTGGAAATATTATGCTACCCACTGTGAGCCTGGCTGGAATCCCTACAATCGTAATTGCTACAAACTTCAGAAAGAAGAAAAGACCTGGCATGAGGCTCTGCGTTCTTGTCAGGCTGATAACAGTGCATTAATAGACATAACCTCATTAGCAGAGGTGGAGTTTCTTGTAACCCTCCTTGGAGATG___AAAATGCATCAGAAACATGGATTGGTTTGAGCAGCAATAAAATTCCAGTTTCCTTTGAATGGTCTAATGACTCTTCAGTCATCTTTACTAATTGGCACACACTTGAGCCCCACATTTTTCCAAATAGAAGCCAGCTGTGTGTCTCAGCAGAGCAGTCT___GAGGGACACTGGAAAGTCAAAAATTGTGA)AGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAG___GGATGGGAGAGACATGGTGGATTCTGTTACAAAATTGACACAGTCCTTCGAAGCTTTGACCAAGCTTCCAGCGGTTATTACTGTCCTCCTGCACTTGTAACCATTACAAACAG|GACAAAGACAAGTTTGGGAGTTTTCTTTAAAGAAGACTGGTAATACGCTAATGGTGCAGCAAGTCTGTCCCCAAAGAGTGGAAGTGAATGAGACCTGGGTATTTTCCATGGAATGATTCACCAGTGGTTCACACCGAAGGAAAAGGGTTGGAGAGAGACTCATG MLLSPSLLLLLLLGAPRGCAEGVAAALTPERLLEWQDKGIFVIQSESLKKCIQAGKSVLTLENCKQANKHMLWKWVSNHGLFNIGGSGCLGLNFSAPEQPLSLYECDSTLVSLRWRCNRKMITGPLQYSVQVAHDNTVVASRKYIHKWISYGSGGGDICEYLHKDLHTIKGNTHGMPCMFPFQYNHQWHHECTREGREDDLLWCATTSRYERDEKWGFCPDPTSAEVGCDTIWEKDLNSHICYQFNLLSSLSWSEAHSSCQMQGGTLLSITDETEENFIREHMSSKTVEVWMGLNQLDEHAGWQWSDGTPLNYLNWSPEVNFEPFVEDHCGTFSSFMPSAWRSRDCESTLPYICKKYLNHIDHEIVEKDAWKYYATHCEPGWNPYNRNCYKLQKEEKTWHEALRSCQADNSALIDITSLAEVEFLVTLLGDENASETWIGLSSNKIPVSFEWSNDSSVIFTNWHTLEPHIFPNRSQLCVSAEQSEGHWKVKNCEERLFYICKKAGHVLSDAESGCQEGWERHGGFCYKIDTVLRSFDQASSGYYCPPALVTITNr|tktslgvffkedw* 05BR045 ENSG00000179241.13 ENSG00000026508.19 +/+ +/+ chr11:35944144 chr11:35229129 CDS/splice-site CDS/splice-site duplication 0 29 0 24 2115 medium out-of-frame . . . . ENSG00000179241.13 ENSG00000026508.19 ENST00000315571.6 ENST00000263398.10 downstream upstream duplicates(4) ^(AG)CAACGACGCCaGGCAGCGGGAGCGGCGGCCGCGCCATGTGGCTGCTGGGGCCGCTGTGCCTGCTGCTGAGCAGCGCCGCGG|GTGTGGGCAGAAGAAAAAGCTAGTGATCAACAGTGGCAATGGAGCTGTGGAGGACAGAAAGCCAAGTGGACTCAACGGAGAGGCCAGCAAGTCTCAGGAAATGGTGCATTTGGTGAACAAGGAGTCGTCAGAAACTCCAGACCAGTTTATGACAGCTGATGAGACAAGGAACCTGCAGAATGTGGACATGAAGATTGGGGTGTAACACCTACACCATTATCTTGGAAAGAAACAACCGTTGGAAACATAACCATTACAGGGA(GCTGGGACACTTAACAGATGCAATGTGCTACTGATTGTTTCATTGCGAATCTTTTTTAGCATAAAATTTTCTACTCTTTTTGTTTTTTGTGTTTTGTTCTTTAAAGTCAGGTCCAATTTGTAAAAACAGCATTGCTTTCTGAAATTAGGGCCCAATTAATAATCAGCAAGAATTTGATCGTTCCAGTTCCCACTTGGAGGCCTTTCATCCCTCGGGTGTGCTATGGATGGCTTCTAACAAAAACTACACATATGTATTCCTGATCGCCAACCTTTCCCCCACCAGCTAAGGACATTTCCCAGGGTTAATAGGGCCTGGTCCCTGGGAGGAAATTTGAATGGGTCCATTTTGCCCTTCCATAGCCTAATCCCTGGGCATTGCTTTCCACTGAGGTTGGGGGTTGGGGTGTACTAGTTACACATCTTCAACAGACCCCCTCTAGAAATTTTTCAGATGCTTCTGGGAGACACCCAAAGGGTGAAGCTATTTATCTGTAGTAAACTATTTATCTGTGTTTTTGAAATATTAAACCCTGGATCAGTCCTTTGATCAGTATAATTTTTTAAAGTTACTTTGTCAGAGGCACAAAAGGGTTTAAACTGATTCATAATAAATATCTGTACTTCTTCGATCTTCACCTTTTGTGCTGTGATTCTTCAGTTTCTAAACCAGCACTGTCTGGGTCCCTACAATGTATCAGGAAGAGCTGAGAATGGTAAGGAGACTCTTCTAAGTCTTCATCTCAGAGACCCTGAGTTCCCACTCAGACCCACTCAGCCAAATCTCATGGAAGACCAAGGAGGGCAGCACTGTTTTTGTTTTTTGTTTTTTGTTTTTTTTTTTTGACACTGTCCAAAGGTTTTCCATCCTGTCCTGGAATCAGAGTTGGAAGCTGAGGAGCTTCAGCCTCTTTTATGGTTTAATGGCCACCTGTTCTCTCCTGTGAAAGGCTTTGCAAAGTCACATTAAGTTTGCATGACCTGTTATCCCTGGGGCCCTATTTCATAGAGGCTGGCCCTATTAGTGATTTCCAAAAACAATATGGAAGTGCCTTTTGATGTCTTACAATAAGAGAAGAAGCCAATGGAAATGAAAGAGATTGGCAAAGGGGAAGGATGATGCCATGTAGATCCTGTTTGACATTTTTATGGCTGTATTTGTAAACTTAAACACACCAGTGTCTGTTCTTGATGCAGTTGCTATTTAGGATGAGTTAAGTGCCTGGGGAGTCCCTCAAAAGGTTAAAGGGATTCCCATCATTGGAATCTTATCACCAGATAGGCAAGTTTATGACCAAACAAGAGAGTACTGGCTTTATCCTCTAACCTCATATTTTCTCCCACTTGGCAAGTCCTTTGTGGCATTTATTCATCAGTCAGGGTGTCCGATTGGTCCTAGAACTTCCAAAGGCTGCTTGTCATAGAAGCCATTGCATCTATAAAGCAACGGCTCCTGTTAAATGGTATCTCCTTTCTGAGGCTCCTACTAAAAGTCATTTGTTACCTAAACTTATGTGCTTAACAGGCAATGCTTCTCAGACCACAAAGCAGAAAGAAGAAGAAAAGCTCCTGACTAAATCAGGGCTGGGCTTAGACAGAGTTGATCTGTAGAATATCTTTAAAGGAGAGATGTCAACTTTCTGCACTATTCCCAGCCTCTGCTCCTCCCTGTCTACCCTCTCCCCTCCCTCTCTCCCTCCACTTCACCCCACAATCTTGAAAAACTTCCTTTCTCTTCTGTGAACATCATTGGCCAGATCCATTTTCAGTGGTCTGGATTTCTTTTTATTTTCTTTTCAACTTGAAAGAAACTGGACATTAGGCCACTATGTGTTGTTACTGCCACTAGTGTTCAAGTGCCTCTTGTTTTCCCAGAGATTTCCTGGGTCTGCCAGAGGCCCAGACAGGCTCACTCAAGCTCTTTAACTGAAAAGCAACAAGCCACTCCAGGACAAGGTTCAAAATGGTTACAACAGCCTCTACCTGTCGCCCCAGGGAGAAAGGGGTAGTGATACAAGTCTCATAGCCAGAGATGGTTTTCCACTCCTTCTAGATATTCCCAAAAAGAGGCTGAGACAGGAGGTTATTTTCAATTTTATTTTGGAATTAAATACTTTTTTCCCTTTATTACTGTTGTAGTCCCTCACTTGGATATACCTCTGTTTTCACGATAGAAATAAGGGAGGTCTAGAGCTTCTATTCCTTGGCCATTGTCAACGGAGAGCTGGCCAAGTCTTCACAAACCCTTGCAACATTGCCTGAAGTTTATGGAATAAGATGTATTCTCACTCCCTTGATCTCAAGGGCGTAACTCTGGAAGCACAGCTTGACTACACGTCATTTTTACCAATGATTTTCAGGTGACCTGGGCTAAGTCATTTAAACTGGGTCTTTATAAAAGTAAAAGGCCAACATTTAATTATTTTGCAAAGCAACCTAAGAGCTAAAGATGTAATTTTTCTTGCAATTGTAAATCTTTTGTGTCTCCTGAAGACTTCCCTTAAAATTAGCTCTGAGTGAAAAATCAAAAGAGACAAAAGACATCTTCGAATCCATATTTCAAGCCTGGTAGAATTGGCTTTTCTAGCAGAACCTTTCCAAAAGTTTTATATTGAGATTCATAACAACACCAAGAATTGATTTTGTAGCCAACATTCATTCAATACTGTTATATCAGAGGAGTAGGAGAGAGGAAACATTTGACTTATCTGGAAAAGCAAAATGTACTTAAGAATAAGAATAACATGGTCCATTCACCTTTATGTTATAGATATGTCTTTGTGTAAATCATTTGTTTTGAGTTTTCAAAGAATAGCCCATTGTTCATTCTTGTGCTGTACAATGACCACTGTTATTGTTACTTTGACTTTTCAGAGCACACCCTTCCTCTGGTTTTTGTATATTTATTGATGGATCAATAATAATGAGGAAAGCATGATATGTATATTGCTGAGTTGAAAGCACTTATTGGAAAATATTAAAAGGCTAACATTAAAAGACTAAAGGAAACAGA)$ MWLLGPLCLLLSSAA|gvgrrks* 05BR045 ENSG00000117450.14 ENSG00000196517.13 -/- -/- chr1:45518938 chr1:44010096 CDS/splice-site CDS/splice-site deletion 13 11 1 3914 106 medium in-frame . AhpC/TSA_family(100%)|Sodium:neurotransmitter_symporter_family(100%) . . ENSG00000117450.14 ENSG00000196517.13 ENST00000319248.13 ENST00000372306.7 upstream downstream duplicates(8) ^(GCGTCTTGTTCTTGCCTGGT)GTCGGTGGTTAGTTTCTGCGACTTGTGTTGGGACTG___CTGATAGGAAGATGTCTTCAGGAAATGCTAAAATTGGGCACCCTGCCCCCAACTTCAAAGCCACAGCTGTTATGCCAGATGGTCAGTTTAAAGATATCAGCCTGTCTGACTACAAAG|GCGCCTTCATGTTCCCCTACTTCATCATGCTCATCTTCTGCGGGATCCCCCTCTTCTTCATGGAGCTCTCCTTCGGCCAGTTTGCAAGCCAGGGGTGCCTGGGGGTCTGGAGGATCAGCCCCATGTTCAAAG___GAGTGGGCTATGGTATGATGGTGGTGTCCACCTACATCGGCATCTACTACAATGTGGTCATCTGCATCGCCTTCTACTACTTCTTCTCGTCCATGACGCACGTGCTGCCCTGGGCCTACTGCAATAACCCCTGGAACACGCATGACTGCGCCGGTGTACTGGACGCCTCCAACCTCACCAATGGCTCTCGGCC(AGCCGCCTTGCCCAGCAACCTCTCCCACCTGCTCAACCACAGCCTCCAGAGGACCAGCCCCAGCGAGGAGTACTGGAG___GCTGTACGTGCTGAAGCTGTCAGATGACATTGGGAACTTTGGGGAGGTGCGGCTGCCCCTCCTTGGCTGCCTCGGTGTCTCCTGGTTGGTCGTCTTCCTCTGCCTCATCCGAGGGGTCAAGTCTTCAGGGAAA___GTGGTGTACTTCACGGCCACGTTCCCCTACGTGGTGCTGACCATTCTGTTTGTCCGCGGAGTGACCCTGGAGGGAGCCTTTGACGGCATCATGTACTACCTAACCCCGCAGTGGGACAAGATCCTGGAGGCCAAG___GTGTGGGGTGATGCTGCCTCCCAGATCTTCTACTCACTGGGCTGCGCGTGGGGAGGCCTCATCACCATGGCTTCCTACAACAAGTTCCACAATAACTGTTACCG___GGACAGTGTCATCATCAGCATCACCAACTGTGCCACCAGCGTCTATGCTGGCTTCGTCATCTTCTCCATCCTCGGCTTCATGGCCAATCACCTGGGCGTGGATGTGTCCCGTGTGGCAGACCACGGCCCTGGCCTGGCCTTCGTGGCTTACCCCGAGGCCCTCACACTACTTCCCATCTCCCCGCTGTGGTCTCTGCTCTTCTTCTTCATGCTTATCCTGCTGGGGCTGGGCACTCAG___TTCTGCCTCCTGGAGACGCTGGTCACAGCCATTGTGGATGAGGTGGGGAATGAGTGGATCCTGCAGAAAAAGACCTATGTGACCTTGGGCGTGGCTGTGGCTGGCTTCCTGCTGGGCATCCCCCTCACCAGCCAG___GCAGGCATCTATTGGCTGCTGCTGATGGACAACTATGCGGCCAGCTTCTCCTTGGTGGTCATCTCCTGCATCATGTGTGTGGCCATCATGTACATCTACGGTGAGCACTCGAGCCTCCGGCCTCCCGCGACCCGGCCCTTGGCCCGCCCACTCTGTCCTGCGGGTCTGCTGACCCCCCATCTCTCCAGGGCACCGGAACTACTTCCAGGACATCCAGATGATGCTGGGATTCCCACCACCCCTCTTCTTTCAGATCTGCTGGCGCTTCGTCTCTCCCGCCATCATCTTC___CTCCAGGCTCAGGTCCACCGCCGCCTCCCCCAGAATCCTCTTCACTTCGCGTCGCTCCCGGAGCGGAACGTGCTCCTCCACCAGCTCCCACAGCGAGGGGGAGTGCCGGAGCATGACCCACCGACGCCGCCGTCCCCGGCTCGGACCTACGGGCCGCAGGTC)$ MSSGNAKIGHPAPNFKATAVMPDGQFKDISLSDYK|gAFMFPYFIMLIFCGIPLFFMELSFGQFASQGCLGVWRISPMFKGVGYGMMVVSTYIGIYYNVVICIAFYYFFSSMTHVLPWAYCNNPWNTHDCAGVLDASNLTNGSRPAALPSNLSHLLNHSLQRTSPSEEYWRLYVLKLSDDIGNFGEVRLPLLGCLGVSWLVVFLCLIRGVKSSGKVVYFTATFPYVVLTILFVRGVTLEGAFDGIMYYLTPQWDKILEAKVWGDAASQIFYSLGCAWGGLITMASYNKFHNNCYRDSVIISITNCATSVYAGFVIFSILGFMANHLGVDVSRVADHGPGLAFVAYPEALTLLPISPLWSLLFFFMLILLGLGTQFCLLETLVTAIVDEVGNEWILQKKTYVTLGVAVAGFLLGIPLTSQAGIYWLLLMDNYAASFSLVVISCIMCVAIMYIYGEHSSLRPPATRPLARPLCPAGLLTPHLSRAPELLPGHPDDAGIPTTPLLSDLLALRLSRHHLPPGSGPPPPPPESSSLRVAPGAERAPPPAPTARGSAGA* 05BR045 ENSG00000117450.14 ENSG00000196517.13 -/- -/- chr1:45518938 chr1:44008623 CDS/splice-site CDS/splice-site deletion 5 1 0 3914 168 medium in-frame . AhpC/TSA_family(100%)|Sodium:neurotransmitter_symporter_family(100%) . . ENSG00000117450.14 ENSG00000196517.13 ENST00000319248.13 ENST00000372306.7 upstream downstream duplicates(4),mismatches(1) ^(GCGTCTTGTTCTTGCCTGGT)GTCGGTGGTTAGTTTCTGCGACTTGTGTTGGGACTG___CTGATAGGAAGATGTCTTCAGGAAATGCTAAAATTGGGCACCCTGCCCCCAACTTCAAAGCCACAGCTGTTATGCCAGATGGTCAGTTTAAAGATATCAGCCTGTCTGACTACAAAG|GAGTGGGCTATGGTATGATGGTGGTGTCCACCTACATCGGCATCTACTACAATGTGGTCATCTGCATCGCCTTCTACTACTTCTTCTCGTCCATGACGCACGTGCTGCCCTGGGCCTACTGCAATAACCCCTGGAACACGCATGACTGCGCCGGTGTACTGGACGCCTCCAACCTCACCAATGGCTCTCGGCCAGCCGCCTTGCCCAGCAACCTCTCCCACCTGCTCAACCACAGCCTCCAGAGGACCAGCC(CCAGCGAGGAGTACTGGAG___GCTGTACGTGCTGAAGCTGTCAGATGACATTGGGAACTTTGGGGAGGTGCGGCTGCCCCTCCTTGGCTGCCTCGGTGTCTCCTGGTTGGTCGTCTTCCTCTGCCTCATCCGAGGGGTCAAGTCTTCAGGGAAA___GTGGTGTACTTCACGGCCACGTTCCCCTACGTGGTGCTGACCATTCTGTTTGTCCGCGGAGTGACCCTGGAGGGAGCCTTTGACGGCATCATGTACTACCTAACCCCGCAGTGGGACAAGATCCTGGAGGCCAAG___GTGTGGGGTGATGCTGCCTCCCAGATCTTCTACTCACTGGGCTGCGCGTGGGGAGGCCTCATCACCATGGCTTCCTACAACAAGTTCCACAATAACTGTTACCG___GGACAGTGTCATCATCAGCATCACCAACTGTGCCACCAGCGTCTATGCTGGCTTCGTCATCTTCTCCATCCTCGGCTTCATGGCCAATCACCTGGGCGTGGATGTGTCCCGTGTGGCAGACCACGGCCCTGGCCTGGCCTTCGTGGCTTACCCCGAGGCCCTCACACTACTTCCCATCTCCCCGCTGTGGTCTCTGCTCTTCTTCTTCATGCTTATCCTGCTGGGGCTGGGCACTCAG___TTCTGCCTCCTGGAGACGCTGGTCACAGCCATTGTGGATGAGGTGGGGAATGAGTGGATCCTGCAGAAAAAGACCTATGTGACCTTGGGCGTGGCTGTGGCTGGCTTCCTGCTGGGCATCCCCCTCACCAGCCAG___GCAGGCATCTATTGGCTGCTGCTGATGGACAACTATGCGGCCAGCTTCTCCTTGGTGGTCATCTCCTGCATCATGTGTGTGGCCATCATGTACATCTACGGTGAGCACTCGAGCCTCCGGCCTCCCGCGACCCGGCCCTTGGCCCGCCCACTCTGTCCTGCGGGTCTGCTGACCCCCCATCTCTCCAGGGCACCGGAACTACTTCCAGGACATCCAGATGATGCTGGGATTCCCACCACCCCTCTTCTTTCAGATCTGCTGGCGCTTCGTCTCTCCCGCCATCATCTTC___CTCCAGGCTCAGGTCCACCGCCGCCTCCCCCAGAATCCTCTTCACTTCGCGTCGCTCCCGGAGCGGAACGTGCTCCTCCACCAGCTCCCACAGCGAGGGGGAGTGCCGGAGCATGACCCACCGACGCCGCCGTCCCCGGCTCGGACCTACGGGCCGCAGGTC)$ MSSGNAKIGHPAPNFKATAVMPDGQFKDISLSDYK|gVGYGMMVVSTYIGIYYNVVICIAFYYFFSSMTHVLPWAYCNNPWNTHDCAGVLDASNLTNGSRPAALPSNLSHLLNHSLQRTSPSEEYWRLYVLKLSDDIGNFGEVRLPLLGCLGVSWLVVFLCLIRGVKSSGKVVYFTATFPYVVLTILFVRGVTLEGAFDGIMYYLTPQWDKILEAKVWGDAASQIFYSLGCAWGGLITMASYNKFHNNCYRDSVIISITNCATSVYAGFVIFSILGFMANHLGVDVSRVADHGPGLAFVAYPEALTLLPISPLWSLLFFFMLILLGLGTQFCLLETLVTAIVDEVGNEWILQKKTYVTLGVAVAGFLLGIPLTSQAGIYWLLLMDNYAASFSLVVISCIMCVAIMYIYGEHSSLRPPATRPLARPLCPAGLLTPHLSRAPELLPGHPDDAGIPTTPLLSDLLALRLSRHHLPPGSGPPPPPPESSSLRVAPGAERAPPPAPTARGSAGA* 05BR045 ENSG00000127511.9 ENSG00000167483.18 +/+ +/- chr19:16878242 chr19:17539787 CDS intron inversion/3'-3' 6 11 1 95 21 medium out-of-frame . C-terminal_domain_of_Sin3a_protein(100%),Paired_amphipathic_helix_repeat(100%),Sin3_family_co-repressor(100%)| . . ENSG00000127511.9 ENSG00000167483.18 ENST00000248054.9 . downstream downstream duplicates(4) ^(GGCGCAGCTCCGACTTCGGACATGGCGCACGCTGGCGGTGGCAGCGGTGGCAGCGGTGCCGGCGGCCCCGCGGGCCGGGGGCTGAGCGGCGCCCGCTGGGGTCGCTCGGGCTCCGCAGGCCACGAGAAGCTGCCGGTGCAC___GTAGAAGACGCCCTCACCTATCTGGACCAGGTGAAGATCCGCTTTGGCAGCGACCCTGCCACCTACAACGGCTTCCTGGAGATCATGAAGGAGTTCAAAAGCCAGAG___CATCGATACTCCTGGAGTCATCAGACGTGTCTCGCAGCTCTTCCACGAGCACCCTGACCTCATTGTTGGATTCAACGCTTTTCTTCCCCTCGGATATAGAATAGACATTCCCAAGAATGGCAAGTTAAACATACAGTCGCCTCTGACAAGCCAG___GAGAATTCGCACAACCACGGGGACGGTGCAGAGGACTTCAAGCAGCAGGTGCCGTATAAAGAGGACAAACCCCAGGTGCCCCTGGAGTCCGATTCCGTGGAATTCAACAACGCCATCAGCTATGTGAATAAGATTAAAACCCGCTTCCTAGACCACCCAGAAATCTACAGGTCATTCCTGGAGATCCTGCACACGTACCAG___AAGGAGCAGCTGAACACGAGGGGCCGGCCATTCCGAGGCATGTCTGAAGAGGAGGTGTTCACCGAGGTGGCCAACCTCTTCCGGGGCCAGGAGGACCTGCTCTCAGAGTTTGGACAGTTCCTGCCCGAAGCCAAGCGGTCTCTG___TTCACAGGAAACGGGCCGTGCGAGATGCACAGCGTGCAGAAGAACGAGCACGACAAGACCCCGGAGCACAGCAGGAAGCGCTCCCGGCCCTCGCTCCTCCGCCCCGTGTCTGCACCCGCCAAG___AAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAG___GTCCGCCGGGTGCTGAAGAGCCAGGAGGTGTATGAAAACTTCCTCCGCTGCATCGCACTCTTCAACCAGGAGCTGGTGTCTGGCTCTGAGCTCCTGCAGCTCGTCAGCCCATTTCTGGG___GAAATTTCCAGAACTCTTTGCACAGTTCAAGTCCTTCCTGGGGGTAAAAGAGCTGTCCTTCGCGCCACCCATGAGCGACAGATCCGGGGACGGGATAAGCCGGGAAATTGATTATGCATCCTGCAAGCGCATAGGATCCAGCTACCGGGCACTCCCCAAAACCTACCAGCAGCCCAAGTGCAGTGGGAGGACAGCCATCTGCAAGGAG___GTACTGAACGACACCTGGGTCTCCTTCCCTTCCTGGTCTGAGGACTCCACGTTCGTCAGCTCCAAGAAGACACCGTACGAGGAGCAGCTTCACCGCTGTGAGGACGAGCGCTTCGAG___TTAGACGTTGTCCTGGAGACGAACCTGGCCACAATCCGTGTGTTGGAAAGTGTGCAGAAGAAGCTGTCTCGGATGGCGCCGGAAGACCAGGAGAAGTTCCGGCTGGACGACTCCCTGGGAGGCACGTCGGAGGTGATCCAGCGCCGTGCCATTTATCGCATCTATGGCGACAAGGCCCCGGAGATCATCGAGAGCCTCAAGAAGAACCCTGTCACCGCTGTCCCCGTTGTCCTGAAAAG___ACTGAAGGCCAAGGAAGAGGAGTGGCGGGAGGCCCAGCAGGGCTTCAACAAGATCTGGCGGGAGCAGTATGAGAAGGCGTACCTCAAGTCCCTTGACCACCAGGCTGTGAACTTCAAGCAGAACGACACCAAGGCCCTGCGCTCCAAGAGCTTGCTCAACGAGATCGAGAGCGTCTACGACGAG___CACCAGGAGCAGCACTCGGAGGGCCGCAGTGCCCCCTCTAGCGAGCCGCACCTCATCTTTGTGTACGAGGACCGGCAGATCCTGGAGGACGCAGCAGCGCTCATCAGCTACTACGTGAAGCGGCAGCCGGCCATCCAGAAGGAGGACCAGGGCACCATCCACCAGCTGCTGCACCAGTTCGTGCCCAGCCTCTTCTTCTCTCAGCAGCTGGACCTGGGCGCCTCCGAGGAGTCAGCTGATGAGGACCGGGACAGCCCCCAGGGGCAGACCACAGACCCCAGTGAGCGGAAGAAGCCGGCGCCAGGACCCCACAGTAGCCCCCCAGAGGAGAAGGGGGCCTTCGGGGATGCCCCGGCCACTGAGCAGCCACCCCTGCCGCCCCCAGCCCCGCACAAGCCCCTGGACGATGTCTACAGCCTATTTTTTGCCAACAACAACTGGTACTTCTTCCTGCGCCTGCACCAGACCCTGTGCTCCAGGCTGCTGAAGATCTACCGCCAGGCGCAGAAGCAGCTTCTGGAGTATCGGACCGAGAAGGAGCGGGAGAAGCTGCTGTGTGAGGGCCGCAGGGAGAAGGGCAGCGACCCCGCCATGGAGCTGCGGCTGAAGCAGCCCA___GTGAAGTGGAGCTGGAGGAGTACTACCCGGCCTTCCTGGACATGGTGCGGAGCCTGCTGGAGGGCAGCATCGACCCCACGCAGTACGAGGACACCCTACGCGAGATGTTCACCATCCATGCCTACGTGGGCTTCACCATGGACAAGCTGGTGCAGAACATTGCGCGGCAG___CTGCACCACCTCGTGAGCGATGACGTCTGCCTGAAGGTGGTGGAGCTCTACCTGAACGAGAAGAAGCGGGGTGCCGCTGGTGGGAACCTGTCCTCCCGCTGCGTCCGCGCTGCTAGGGAGACCAGCTACCAGTGGAAGGCTGAGCGCTGCATGGCCGACGAGAACTGCTTCAAG___GTGATGTTCCTGCAGCGCAAAGGGCAGGTGATCATGACCATCGAGCTCCTGGACACCGAGGAGGCCCA)GACGGAGGACCCTGTGGAGGTCCAG___CACCTGGCTCGGTACGTGGAGCAGTATGTGGGGACCGAGGGCGCGTCCAGCTCGCCCACTGAGGGCTTCCTCCTGAAACCTGTGTTCCTGCAGAG___GAACCTCAAGAAGTTCCGCCGCCGGTGGCAGAGCGAGCAGGCGCGGGCCCTGCGCGGcG|g|AGGCTCCGCCCCAGGGCCTCACTCCTCAGCCGCCCCGCCACACGCGCCCGCTGCCGCAGCAGCTGGTCCACGTCCGGGCGGATCGTCTTCTCCAGCGACGCAAGCAGCTCGTCCTTTTCGGGCTGGAAGGCGCAGAGCCCGGCGGAGGCCCCGGCCAGGACAGCTGCGTGAACGGCGTCTAGAAGCTGCCCAGACCGGTCGAGGGGGGACAAAGCCGAGACACGGGGCGGGGATGGGG MAHAGGGSGGSGAGGPAGRGLSGARWGRSGSAGHEKLPVHVEDALTYLDQVKIRFGSDPATYNGFLEIMKEFKSQSIDTPGVIRRVSQLFHEHPDLIVGFNAFLPLGYRIDIPKNGKLNIQSPLTSQENSHNHGDGAEDFKQQVPYKEDKPQVPLESDSVEFNNAISYVNKIKTRFLDHPEIYRSFLEILHTYQKEQLNTRGRPFRGMSEEEVFTEVANLFRGQEDLLSEFGQFLPEAKRSLFTGNGPCEMHSVQKNEHDKTPEHSRKRSRPSLLRPVSAPAKKKMKLRGTKDLSIAAVGKYGTLQEFSFFDKVRRVLKSQEVYENFLRCIALFNQELVSGSELLQLVSPFLGKFPELFAQFKSFLGVKELSFAPPMSDRSGDGISREIDYASCKRIGSSYRALPKTYQQPKCSGRTAICKEVLNDTWVSFPSWSEDSTFVSSKKTPYEEQLHRCEDERFELDVVLETNLATIRVLESVQKKLSRMAPEDQEKFRLDDSLGGTSEVIQRRAIYRIYGDKAPEIIESLKKNPVTAVPVVLKRLKAKEEEWREAQQGFNKIWREQYEKAYLKSLDHQAVNFKQNDTKALRSKSLLNEIESVYDEHQEQHSEGRSAPSSEPHLIFVYEDRQILEDAAALISYYVKRQPAIQKEDQGTIHQLLHQFVPSLFFSQQLDLGASEESADEDRDSPQGQTTDPSERKKPAPGPHSSPPEEKGAFGDAPATEQPPLPPPAPHKPLDDVYSLFFANNNWYFFLRLHQTLCSRLLKIYRQAQKQLLEYRTEKEREKLLCEGRREKGSDPAMELRLKQPSEVELEEYYPAFLDMVRSLLEGSIDPTQYEDTLREMFTIHAYVGFTMDKLVQNIARQLHHLVSDDVCLKVVELYLNEKKRGAAGGNLSSRCVRAARETSYQWKAERCMADENCFKVMFLQRKGQVIMTIELLDTEEAQTEDPVEVQHLARYVEQYVGTEGASSSPTEGFLLKPVFLQRNLKKFRRRWQSEQARALRG|g|gsapgphssaapphapaaaaagprpggssspatqaarpfragrrrarrrprpgqlrerrleaaqtgrggtkprhgagm 05BR045 ENSG00000279765.3 ENSG00000258647.6 +/+ -/+ chr15:92929091 chr15:92570231 3'UTR exon duplication/5'-5' 12 0 1 42 53 medium out-of-frame . . . . ENSG00000279765.3 ENSG00000258647.6 ENST00000629685.2 . downstream upstream duplicates(1) ^(AGAGCCCGCGGGCGGCAGGTGGGCGGGGGGCAGCCTCGTCGCCGGGACTGGATCCGCCGGGAAAGGGGCGGCGGGTGAATGCCGGCGAGAGCCCGAAGGGGATCGGGCGTGGAGAGCCCCTTTCTGTCCTG___GTGACTTAAGAGATTAAAATTAATTTGGTTGCTGTTGGTTCTGAACAAATAATGAGTTCTTTTATTTGAG___GTATGCCATTTTGAAGACTGAGACGTTGGAGTTTTATCCTAGAGGATAAAGGAAATCTTTGGGAAAGTCAGTATTTTATATAGCAA___AAATATGAACCTCAAACTGAATCCTCTAAAGGCCCCATACAATGAAGTAGACATTGGTGGAAACATTTA___TAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCCTTAATATTTAAGAATTAAAAGATGATGAGAAATAAGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAATGCATCGAG___TCACTCAGCCTCTGAAGAAGCTTCGGGTTCAGACTCAGGCAGTCAGTCGGAAAGTGAGCAGGGAAGTGATCCAGGAAGTGGACATGGCAGCGAGTCGAACAGCAGC)TCTGAATCTTCTGAGAGTCAGTCGGAATCTGAGAGCGAATCAGCAGGTTCCAAATCCCAGCCAGTCCTCCCAGAAGCCAAAGAGAAGCCAGCCTCTAAGAAGGAACGGATAGCTGATGTGAAGAAG___ATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAG___GCAAGTAGCGGGTCTGAGAGTGGGAGCCCAAAAAGAAGAGGCCAGAGGCAGCTGAAAAAACA|GTTCTCTTATTCCATTCTGTACATGTCAGAAGCCGTCAGGAGCCTCAAGAGAAGAAGAAAGAGCCATG___ATCCTGAGGAATTGCCATTAGGACCTGGAAACAAATATGTTGCGTGGAAGACTTACTGACAAAGGAACTTTTACTGAAGTCCTCCTCTAGTGC MMRNKDKSQEEDSSLHSNASSHSASEEASGSDSGSQSESEQGSDPGSGHGSESNSSSESSESQSESESESAGSKSQPVLPEAKEKPASKKERIADVKKMWEEYPDVYGVRRSNRSRQEPSRFNIKEEassgsesgspkrrgqrqlkkq|fsysilymseavrslkrrrkshdpeelplgpgnkyvawkty* 05BR045 ENSG00000266074.8 ENSG00000185504.17 +/- -/- chr17:81459492 chr17:81551908 intron intron duplication/3'-3' 6 5 1 449 49 medium . . |Fanconi_anemia-associated_(100%) . . ENSG00000266074.8 ENSG00000185504.17 . . upstream downstream duplicates(2),mismatches(1) CGGCGATGTGGCCTGTATCCCCATCGTCAAATTCCACCACTACTGAGTCCAGGTCCTCATCTTCGTCACCGGAGGCCCCTGTGGACGGCACACCTGAGCTTGCAGCTGGAACCCCCA___TAGGCGCAGACCCGCGTGCCGGGCGGGAGGTACCGGCTGGACTGTGGCCGCACATCGAGAACCTGC|CTCCCTCCCGCACACTCCTGCTGCCCCCGGACTGCTTCAGAGCGAGCAGCCCCACCTCATCGCGCTTGGGGACCCGGGCTGCCGCCAGCTCTGAAGCCTCGGCCGCCATCCCTGCCCGATTATCTGGAGCCCCTGCCCCCAGCACTCTTTCTGCAAGTGTCTTGCTCACAGTCC . 05BR045 ENSG00000089327.15 ENSG00000121289.18 +/+ -/+ chr19:35167425 chr19:32876571 intron 3'UTR duplication/5'-5' 3 3 0 9 16 medium . . ATP1G1/PLM/MAT8_family(100%)| . . ENSG00000089327.15 ENSG00000121289.18 . . downstream upstream . GTTTAATAGAGTGAgATCTCTGGAGGTACAGGCAGGGCAATGAGATGGTGCAGTGCCCTAGGACTAGCAAGGATGGGGACCTGTTATCCCCCAGCCTGAGGGACgAGAGGAGGCACTGGCTTTGCAGGAGGCCTGGTGAGAGATGGAACTGGAGGTGGGGCTGCTGGCAGGAGCTGTGGCCTCAGAAAGAGGGTTCCAGCCACTGCCTCACTTGTGACCAAACCAGGAGGGAGCAGGGGTGGTGG|CTCCTGAAACCTTGTCCACTCTGCAAGGGCCGGGGCGTGCCAGTTCCTCCCAGAAGCACCCCAATGTTTCTGTCCTTTCCTGGAATCTCACAAGCACCCAGGTGCCTCTCTGCCTTGCCTGCC . 05BR045 ENSG00000100138.15 ENSG00000205702.11 -/- -/- chr22:41682356 chr22:42142044 CDS/splice-site CDS/splice-site duplication 0 6 0 158 10 medium out-of-frame . |Cytochrome_P450(100%) . . ENSG00000100138.15 ENSG00000205702.11 ENST00000648350.1 ENST00000433992.2 upstream downstream duplicates(1) ^(AGGCCTGGTTAGCATGCTCTTGGTGCAG___GGCCAGTTTCCGCGCCAGTGCCCCCGTAGAGGGCGGGGCCCACTCGCTCGCGTAGCGTCACCTTCGCTTCCTGCCGCGCGGGGCCATTTCCGCTGCTGCTTCTGTGAGTTTTTCCGGTGCACGCGAGTGCTTCTGAAACGTCAGCTGCGCTCCCCTAGGAGTGCTGAGCCCGCGGAACCGCAGCCATG___TTGTCCTGGGACCAAGACAAATTCGCCTAAGATAAGGAGTTACGTAGAAGACAGGGCGTCCTGGTGTACGGGCTGGCCCTGGACGTCACTTCCGCTGGCGGCAGTGGCGTCACTTCCTGCTCTTGGGGGCGGGGCATCCGTGTCCTTGCGGTGCT)GGGCAGCAGACCGTCCAAACCGACACGCGTGGTATCCTCGCGGTGTCCGGCAAGAGACTACCAAGACAGACGCTATG|GTGCTGAATGCTGTCCCCGTCCTCCtGCACATCCCAGCGCTGGCTGGCAAGGTCCTACGCTTCCAAAAGGCTTTCCTGACCCAGCTGGATGAGCTGCTAACTGAGCACAGGATGACCTGGGACCCAGCCCAGCCACCCCGAGACCTGACTGAGGCCTTCCTGGCAAAGAAGGAGAAG___GCCAAGGGGAGCCCTGAGAGCAGCTTCAATGATGAGAACCTGCGCATAGTGGTGGGTAACCTGTTCCTTGCCGGGATGGTGA(CCACCTCGACCACGCTGGCCTGGGGCCTCCTGCTCATGATCCTACACCTGGATGTGCAGC___GAGGAAGGAGAGTGTCCCCTGGGTGCTGACCCATTGTGGGGACGCATGTCTGTCCAGTCCGTGTCCAACAGGAGATCGACGACGTGATAGGGCAGGTGCGGCGACCAGAGATGGGTGACCAGGCTCACATGCCCTGCACCACTGCCGTGATTCACGAGGTGCAGCACTTTGGGGACATCGTCCCCCTGGGTGTGACCCATATGACATCCCGTGACATCGAAGTACAGGGCTTCCGCATCCCTAAG___GGAACGACACTCATCACCAACCTGTCATCGGTGCTGAAGGATGAGGCCGTCTGGAAGAAGCCCTTCCGCTTCCACCCCGAACACTTCCTGGATGCCCAGGGCCACTTTGTGAAGCCGGAGGCCTTCCTGCCTTTCTCAGCAG___GCCGCCGTGCATGCCTCGGGGAGCCCCTGGCCCGCATGGAGCTCTTCCTCTTCTTCACCTCCCTGCTGCAGCACTTCAGCTTCTCCGTGGCCGCCGGACAGCCCCGGCCCAGCCACTCTCGTGTCGTCAGCTTTCTGGTGACCCCATCCCCCTACGAGCTTTGTGCTGTGCCCCGCTAGAATGGGGTACCTAGTCCCCAGCCTGCTCCCTAGCCAGAGGCTCTAATGTACAATAAAGCAATGTGGTAGTTCCAA)$ MLLVQGQFPRQCPRRGRGPLARVASPSLPAARGHFRCCFCEFFRCTRVLLKRQLRSPRSAEPAEPQPCCPGTKTNSPKIRSYVEDRASWCTGWPWTSLPLAAVASLPALGGGASVSLRCWAADRPNRHAWYPRGVRQETTKTDAM|vlnavpvllhipalagkvlrfqkafltqldelltehrmtwdpaqpprdlteaflakkekakgspessfndenlrivvgnlflagmvttsttlawglllmilhldvqrgrrvspgc* 05BR045 ENSG00000110880.10 ENSG00000111237.19 -/- -/- chr12:108701124 chr12:110496203 CDS/splice-site CDS/splice-site duplication 5 0 0 66 290 medium in-frame . Domain_of_unknown_function_(DUF1899)(100%)|Calcineurin-like_phosphoesterase_superfamily_domain(100%) . . ENSG00000110880.10 ENSG00000111237.19 ENST00000261401.7 ENST00000549578.6 upstream downstream . ^(GCGCGGCGCGGGGGCGGGGCCTACGCGCGGTGGCGGGGGCGGTGGCGGCTGCCCGCGCCCCTCCCCCGCACGGCGCTCAGTGCCAGGCTGGAGGCGGCAGCGGTTGGAGGCTTCGCCCGGCTTTGCAGCGGGGACTTCGGCGGCGGCGCCTCAGGCACCTCGGCCCGG___ACACGATGAGGCGAGTGGTAC)GACAGAGCAAGTTTCGGCATGTATTTGGGCAAGCGGTGAAAAATGACCAGTGCTATGATGACATCCGGGTTTCTCGTGTGACCTGGGATAGTTCCTTTTGTGCTGTCAATCCCAGATTTGTTGCCATAATCATAGAGGCAAGTGGGGGAGGAGCGTTCCTTGTCCTCCCTCTGCACAAG|TTGGTGTTGGTATTAGGAGATCTGCACATCCCACACCGGTGCAACAGTTTGCCAGCTAAATTCAAAAAACTCCTGGTGCCAGGAAAAATTCAGCAC(ATTCTCTGCACAGGAAACCTTTGCACCAAAGAGAGTTATGACTATCTCAAGACTCTGGCTGGTGATGTTCATATTGTGAGAGGAGACTTCGATGAG___AATCTGAATTATCCAGAACAGAAAGTTGTGACTGTTGGACAGTTCAAAATTGGTCTGATCCATGGACATCAAGTTATTCCATGGGGAGATATGGCCAGCTTAGCCCTGTTGCAGAGGCAATTTGATGTGGACATTCTTATCTCGGGACACACACACAAATTTGAAGCATTTGAGCATGAAAATAAATTCTACATTAATCCAGGTTCTGCCACTGGGGCATATAATGCCTTGGAAAC___AAACATTATTCCATCATTTGTGTTGATGGATATCCAGGCTTCTACAGTGGTCACCTATGTGTATCAGCTAATTGGAGATGATGTGAAAGTAGAACGAATCGAATACAAAAAACCTTAAAGCCAGGCCTGTCTTGATGATTTTTGGTTTTTTTTCATTGTCCTGTTGAAATCAAGTAATTAAACATTTAAGAGCCACAAAATTGTATCACTTTTATAATATTTTGCAGTAAAATATAATACCATCTTCTCTGTTAATACATAATTGCTCCAAGCTTCCTGTAAACTATAAGAATATATTTAGTTTACAGTATATGGATTCTATGAAAAAATGTCCACAACACAGTAATTGGTCACTTGTTAAGAAAAATTTATCCTTGTAAGTATCTTCAAAGTTGATATTTGGAACTTTATTCCAAAAGTAGTGCATGTGGAGAAAGAATCTAGACTTTCTTGTATACATTTTTCTCTTCTCCAGTAATAAACAATTACCTTTCATTTATACTTTGATAACCTGTATTTAATTTAAAAAAAAACATAAAAATGAGGAACCAAGTGAAACTACGGATATAAATATTAAAGTGGACGAGATGACCTTTCAGAGCTCTTCTCTTACATTGTGTCATAATGTTGGACTCAGATTTTATTTGCTAAATAATATACCATGCCGACATTAACAGTGATTCTTCAAACTGTTGCTATTTCCATTTTTCAAGGTTTAATAAAAGTTTTAAAAATACAAGTTTAGGGGCCGGGCACAGTGGCTCACACCCTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAATTAGCCAGCATGGTGCTACATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGTAGAATCACTTGAATCCTGGAGTTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGTCAACAAGAGCATAACTCCGTCTCAAAAAAAAACAAAA)$ MRRVVRQSKFRHVFGQAVKNDQCYDDIRVSRVTWDSSFCAVNPRFVAIIIEASGGGAFLVLPLHK|LVLVLGDLHIPHRCNSLPAKFKKLLVPGKIQHILCTGNLCTKESYDYLKTLAGDVHIVRGDFDENLNYPEQKVVTVGQFKIGLIHGHQVIPWGDMASLALLQRQFDVDILISGHTHKFEAFEHENKFYINPGSATGAYNALETNIIPSFVLMDIQASTVVTYVYQLIGDDVKVERIEYKKP* 05BR045 ENSG00000103249.18 ENSG00000263072.8 -/- -/- chr16:1473842 chr16:3115648 intron exon duplication 1 4 0 1 9 medium . . . . . ENSG00000103249.18 ENSG00000263072.8 . ENST00000673666.1 upstream downstream . TAGTAGAGACGGGcTTCCTCCGTGTTGGTCAGGCTGGCCTCGAACTCCCGACCTCACGTGATCCCCCGCACCTCAGCCTCaC|CCCACCTGGACCTGGGCCAAACCTCCACCTCCCCACAGCTGCCTCCCTGGGAAAGCGCCTCTTCCCCGTCCCTCTCCTACCTCCGCCAGGCAGGAAGAGAGCTTTCTCCTTAGAGCCGTGACTTAGGGGTGCCCAGCCCCAGGCACCTTGAGCCCCATCCTCCTGCGATGCCCCCTCGGAGTGTG(GCTCTTCGGGCTCCATCTTAATGTGCAGTGACTCCTGAGTGTCCCCTGAAGGTACCGCCTCCCCCAGCTTAGAAGGCATTTCCTGATGAGGATGTCCACGATCTGGAACCTAGAAAGGACAGCCCCATCAGCACCCAGATGAGTGGGAGAGACACCCAGGGCCACATGGCAGTGCGCTCCGGCAGCGTCGGAAACCAACATGCAAGACGCAGCTTGAAGGACTGTCCTTGCTGCATTCATCCAGCTCACCCCAGCAAGGACGGGCGGCAAGAGGAGGAATATTCACCAAGCCGCCTCCACAGTGCCGGTGGGCGTGGTGCCCAAGGGCAGCTACCCCTTCTCAGCTCCAGCCTCACACTGACCTCAGCAGTGTAGACTGCTGTCTATTAGTGTATGAAGAAACCAAGTGTAGTGGCTTGAATAGTGTCCTCTAAGAATCCGTGTCCTCCCTGGACCTCAGAATGGGACCTTATTGGGGAAAAGGGTCTTTATACAG___GAGAGGACACAGAGACACAGAGAAGGAAGCAGAGACTGGAGGGATGCCCACACCAAGGACACCAGGAGCCCCCAAGGAGTTGGAAGAG___GTCTCAGTGCTTTTGCAAACCTTCTCTTCTACAACCCTCTCCTGCAATACATCTGGGAGGTGGGATCATCGTTCACACATTACAGAGGAGGCAGTGATGGTTTTCAAATGAAAAGTGACTTCGCCAAGGACACATGCAGCTGGGCTGTGGAGGGCCTAGTCTGTCTCCTTTTTCCATCCCTCGTTTATTTCCAGAGCTGTTCCTACACCTGAAAAGCGCCACTCCCCCTGCACACCCTGGCAGACAACCGGATTCGATGGCCCTGGCAGCCCGAACGCCAACAAACACCCAGTGTCTTTCTGAAGCGACCATAAGCCATTCGAGGAAACACGCACGGGGTCCTGCTTGTCCTGGCCTTGTCCCCAATGCCCAGGGCAGTGAGAGCAGCTCTACACGGAGGCCAGTCCCTGAGGCTTCCTCGGTGGCCTCAGACCTCGGAGTACACACGTGCAGTCCTTACCTCCCAAAGATAAACCTAACCTCTCACTCTGCTCTTCACCTACTTCAGACTGCTGTCCCATATATGGTCACCAGAGACATATGAGAACCACTAGAGATAGCCCCAAACTGAAAACTGCCCACGGGCTACCCATAGCAGAATGAATAACTGATGTAATGAGGAAAATCATTCAGCAACGAGAGGGAAAGAACGCTCGATGGCATGGAGTCCCAGCTGTAGTCCCAGCTCCTTGGTAGACCGAGATGGGAGGATCACTTTAACCCAGGAGTTTGAGTCCAGCCTGGGAGATATGGCAAGACCT)$ . 05BR045 ENSG00000099968.18 ENSG00000280441.3 +/+ +/+ chr22:17638886 chr21:8450147 CDS/splice-site exon/splice-site translocation 0 5 0 29 313 medium out-of-frame . . . . ENSG00000099968.18 ENSG00000280441.3 ENST00000611738.4 ENST00000651813.1 downstream upstream duplicates(1) ^(GCAATCAGATTTGGGCGGGCTAGGAGGGTTTGGGTCTTCAGGTCACATCTGGACGGAGAGACCTCCGGGGCCTCCGTTGGTCGGTCCTTCCGCTCCGGATACCGTTCCGGATGTCAGGTAGTTCAGGTCCCGCCCCGACGCCGGCCGTGACGAAGGCACGCCGGGGTGACCTCACCCTCCAACATGGCGGCGGCGGTAGATTAGGGCCGCGGGTCGGAGCACT)CACCGCCGCTGGGGGACCCTGTCGGAAGCAACTGCCGCCGCCGCCTCTTTCATCTCTTCTGGGGCAGGGGCCAGGGCCAG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCCGGCTAATTTTTCTATTTTTACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGT(CTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ MSGSSGPAPTPAVTKARRGDLTLQHGGGGRLGPRVGALTAAGGPCRKQLPPPPLSSLLGQGPGP|gvisrvevisnf* 05BR045 ENSG00000170145.5 ENSG00000150750.8 +/+ +/+ chr11:111602698 chr11:111281398 CDS/splice-site CDS/splice-site duplication 0 4 0 11 4 medium in-frame . Protein_kinase_domain(100%)| . . ENSG00000170145.5 ENSG00000150750.8 ENST00000304987.4 ENST00000280325.6 downstream upstream . ^(AAGGAGCGAAGGAGCGAAGGAGCAAGCGGAGCGGCCGTCGCCCAAGCCAAGCCGCGCTGCCAACCCTCCCGCCCGCCCGCGCTCCTGTCCGCCGTGTCTAGCAGCGGGGCCCAGCATGGTCATGGCGGATGGCCCGAGGCACTTGCAGCGCGGGCCGGTCCGGGTGGGGTTCTACGACATCGAGGGCACGCTGGGCAAGGGC)AACTTCGCTGTGGTGAAGCTGGGGCGGCACCGGATCACCAAGACGGAG|GGCAGCGTCAGTTCCTCTCAGTCTCCATTTGTGCAGATGCCAG___GTTCGCCGGTCACGTCAGGTTACTACGGTGTCAGAAGATCTTTCTTATCTGACTCAGACTTCCACAACAGTAAACAGTTTTCAAATGACGTCTACACCTCCAGCGTGGGGAAGCCGTTTCCCTGTGAGTCCTCCGCAGGGCAGAGCCATGCGGCTCTCCTGGAGCCCTACTTCCCCCAGGAGCCCTACGGAGACTACCGGCC(TCCGGCGCTGACGCCCAACGCGGGCTCTCTGTTCAGCGCCTCGCCCCTACCGCCGCTCCTGCCACCGCCCTTCCCCGGAGACCCAGCTCACTTCCTATTT___AGGGACTCATGGGAGCAGACGTTGCCTGACGGTCTCAGCCAGCCTGACCCTGTGTCTGCCGATGCCCTGCTGACCTTGCCACCCAGCACGAGTTGCCTCTCCCAGCTTGAGTCCGGGAGCATCGCCCAGCACAGGGGCTCAAGCTGGGGGTCATCCCTGGCTGGGGCTCAGTCATACTCGCTGCATGCTCTGGAAGATCTGCACCACACTCCGGGGTACCCTACCCCGCCTCCTTACCCCTTCACCCCTTTCATGACGGTGTCAAATGACCTACCGCCCAAGGTGGGGCCACTCTCCCCAGATGAGGAAGCAGACACCGGTTCCCTCCATGACCCTTCCCCTTGGGTGAAAGAAGATGGGAGTATTGCCTGGGGGTCATATGAATGCCGCAGAGCTTATTGAGGGGAGGGCCAAATGACTTCTGGGTTTTTCTTTAACTTGAGGTGTATTCCAAAGATTGTTTTAGGTGTGTCAGCCCATTCAGGACTGGATTTTCAGAATAAGCCTCAATGCTGCTCTTTGTTAGTGGACGAGGGCATTTATTTGTAATCCTCTCCACTGTAACCCCACTGAAATAAAACAGAATGTTAATTAAATGTGTCAGAGACCGTATTCTAGTAAGATAACCTTACAATGTGGTCTTTTTGGAACTGTTGTAACCCATTACGTTCTGAATCTTCTGTTATCTTTGAAGTATCATTTTTGGCACTGATTTTTCTTAAATTACATTAAAAAGTTTATGCAGATCA)$ MVMADGPRHLQRGPVRVGFYDIEGTLGKGNFAVVKLGRHRITKTE|GSVSSSQSPFVQMPGSPVTSGYYGVRRSFLSDSDFHNSKQFSNDVYTSSVGKPFPCESSAGQSHAALLEPYFPQEPYGDYRPPALTPNAGSLFSASPLPPLLPPPFPGDPAHFLFRDSWEQTLPDGLSQPDPVSADALLTLPPSTSCLSQLESGSIAQHRGSSWGSSLAGAQSYSLHALEDLHHTPGYPTPPPYPFTPFMTVSNDLPPKVGPLSPDEEADTGSLHDPSPWVKEDGSIAWGSYECRRAY* 05BR045 ENSG00000012232.9 ENSG00000253567.1 +/+ +/+ chr8:28701659 chr8:28448954 5'UTR/splice-site exon/splice-site duplication 4 0 0 31 44 medium . . . . . ENSG00000012232.9 ENSG00000253567.1 ENST00000220562.9 ENST00000523935.1 downstream upstream duplicates(1) ^(CCGCAGTCGCCTGTCGGAAATGGCTGCCGGCCGGCA)GGGGGAGCGGCGGATCAGGCGCGGCCTGGAAGGCGGGCGGCCGGCAGCCAGAACGGCTTCTGGGACGCCGACTTTCGCGCAGGCGGCGGCGGCGGCGGCGGCGGGTCCCTGAGCTGGAAGCCG|GAAAAGTTTGCCTGATGTAATGGATCTAGGCGATGAGTATCCATGGCTACCAACACGAGACAGACAACCAGAAATGAT(___CCTGAGCTTCAGCTATTGCTCCCTAACTGAGAATGAGATGCAAGAGAAGTCTCACTAGGAAAGG)$ . 05BR045 ENSG00000012232.9 ENSG00000253567.1 +/+ +/+ chr8:28622810 chr8:28448954 5'UTR/splice-site exon/splice-site duplication 0 4 0 7 44 medium . . . . . ENSG00000012232.9 ENSG00000253567.1 ENST00000523149.5 ENST00000523935.1 downstream upstream . ^(AGAGGGCGGGGCCGG)GCCGCTGGCGCTGTCGCCGGCTGCAGTGGCCGCCGCTGGAGACCGCGGGACCTGGCGCTGCAGCGAG|GAAAAGTTTGCCTGATGTAATGGATCTAGGCGATGAGTATCCATGGCTACCAACACGAGACAGACAACCAGAAATGAT___CCTGAGCTTCAGCTATTGCTCCCTAACTGAGA(ATGAGATGCAAGAGAAGTCTCACTAGGAAAGG)$ . 05BR045 ENSG00000012232.9 ENSG00000253567.1 +/+ +/+ chr8:28701659 chr8:28455624 5'UTR/splice-site exon/splice-site duplication 3 0 0 31 107 medium . . . . . ENSG00000012232.9 ENSG00000253567.1 ENST00000220562.9 ENST00000518819.1 downstream upstream . ^(CCGCAGTCGCCT)GTCGGAAATGGCTGCCGGCCGGCAGGGGGAGCGGCGGATCAGGCGCGGCCTGGAAGGCGGGCGGCCGGCAGCCAGAACGGCTTCTGGGACGCCGACTTTCGCGCAGGCGGCGGCGGCGGCGGCGGCGGGTCCCTGAGCTGGAAGCCG|CCTGAGCTTCAGCTATTGCTCCCTAACTGAGAATGAGATGCAAGAGAAGTCTCACTAGGAAAGGAGTCAGAGCTACGG(GAATTTTCAAGAGAACTTTAAAAATTCTTCACTTAAAACTCTCTTTTTAAAAGAAATCCTCGTGGAGCATACCAACTACTGAAATCAGAAAGACTTTTATCATTGCAATTGTAACAATATTAATTATGCATAGTTTATTACTGTATTAAGTGTAGGTGGAATCTATTTCAAGAAAACACAATAAAGCCTAAACCAAAATAA)$ . 05BR045 ENSG00000153246.13 ENSG00000153250.20(269576),ENSG00000279844.1(85930) -/- ./- chr2:160013263 chr2:160763383 CDS/splice-site intergenic duplication 0 3 0 86 6 medium out-of-frame . Fibronectin_type_II_domain(100%),Lectin_C-type_domain(100%)| . . ENSG00000153246.13 . ENST00000283243.13 . upstream downstream duplicates(2) ^(AGAGCCCCGAGTGTCGGTTCACTGTGGAGACAGCGGTGGCGGAGTGGGTCTCCAGGGCTCTGGGCTGGCAAGGCCCCCGGAGGGGGTGGGGCGCGGAGGAGGCTACGGATCCGCTTCCGCGCGGCGGGGCCGGGTGCTTGGGACGCGGCTCTGGGCTCCCGGGATAAGGGGCTCCCGGGACAAGGGGCTCCCGGAGAGCCCAGTGGTTAGCGATGCTGCTGTCGCCGTCGCTGCTGCTGCTGCTGCTGCTGGGGGCGCCGCGGGGCTGCGCCGAGGGTGTGGCGGCGGCGCTTACCCCCGAGCGGCTCCTGGAGTGGCAGG___ATAAAGGAATATTTGTTATCCAAAGTGAGAGTCTCAAGAAATGCATTCAAGCAGGTAAATCGGTTCTGACCCTGGAGAACTGCAAGCAAGCAAACAAGCACATGCTGTGGAAATGGGTTTCAAACCATGGCCTCTTTAACATAGGAGGCAGTGGTTGCCTGGGCCTGAATTTCTCCGCCCCAGAGCAGCCATTAAGCTTATATGAATGTGACTCCACCCTCGTTTCCTTACGGTGGCGCTGTAACAGGAAGATGATCACAGGCCCGCTGCAGTACTCTGTCCAGGTGGCGCATGACAACACAGTGGTGGCCTCACGGAAGTATATTCATAAGTGGATTTCTTATGGGTCAGGTGGTGGAGACATTTGTGAATATCTACACAAAG___ATTTGCATACAATCAAAGGGAACACCCACGGGATGCCGTGTATGTTTCCCTTCCAGTATAACCATCAGTGGCATCATGAATGTACCCGTGAAGGTCGGGAAGATGACTTACTGTGGTGTGCCACGACAAGCCGTTATGAAAGAGATGAAAAGTGGGGATTTTGCCCTGATCCCA___CCTCTGCAGAAGTAGGTTGTGATACTATTTGGGAGAAGGACCTCAATTCACACATTTGCTACCAGTTCAACCTGCTTTCATCTCTCTCTTGGAGTGAGGCACATTCTTCATGCCAGATGCAAGGAGGTACGCTGTTAAGTATTACAGATGAAACTGAAGAAAATTTCATAAGGG___AGCACATGAGCAGTAAAACAGTGGAGGTGTGGATGGGCCTCAATCAGCTGGATGAACACGCTGGCTGGCAGTGGTCTGATGGAACGCCGCTCAACTATCTGAATTGGAGCCCAG___AGGTAAATTTTGAGCCATTTGTTGAAGATCACTGTGGAACATTTAGTTCATTTATGCCAAGTGCCTGGAGGAGTCGGGATTGTGAGTCCACCTTGCCATATATATGTAAAAAATATCTAAACCACATTGATCATGAAATAGTTG___AAAAAGATGCGTGGAAATATTATGCTACCCACTGTGAGCCTGGCTGGAATCCCTACAATCGTAATTGCTACAAACTTCAGAAAGAAGAAAAGACCTGGCATGAGGCTCTGCGTTCTTGTCAGGCTGATAACAGTGCATTAATAGACATAACCTCATTAGCAGAGGTGGAGTTTCTTGTAACCCTCCTTGGAGATG___AAAATGCATCAGAAACATGGATTGGTTTGAGCAGCAATAAAATTCCAGTTTCCTTTGAATGGTCTAATGACTCTTCAGTCATCTTTACTAATTGGCACACACTTGAGCCCCACATTTTTCCAAATAGAAGCCAGCTGTGTGTCTCAGCAGAGCAGTCT___GAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAG___GGATGGGAGAGACATGGTGGA)TTCTGTTACAAAATTGACACAGTCCTTCGAAGCTTTGACCAAGCTTCCAGCGGTTATTACTGTCCTCCTGCACTTGTAACCATTACAAACAG|AGCTCGAAAAGACACATTTCAGTGGAAGGAACTAAAGACCACTTGAAAAGGAATGAAAGCATGTTGCCCTAAGCCAGATTGCAGCAATATGTTGACCTTGGGAC MLLSPSLLLLLLLGAPRGCAEGVAAALTPERLLEWQDKGIFVIQSESLKKCIQAGKSVLTLENCKQANKHMLWKWVSNHGLFNIGGSGCLGLNFSAPEQPLSLYECDSTLVSLRWRCNRKMITGPLQYSVQVAHDNTVVASRKYIHKWISYGSGGGDICEYLHKDLHTIKGNTHGMPCMFPFQYNHQWHHECTREGREDDLLWCATTSRYERDEKWGFCPDPTSAEVGCDTIWEKDLNSHICYQFNLLSSLSWSEAHSSCQMQGGTLLSITDETEENFIREHMSSKTVEVWMGLNQLDEHAGWQWSDGTPLNYLNWSPEVNFEPFVEDHCGTFSSFMPSAWRSRDCESTLPYICKKYLNHIDHEIVEKDAWKYYATHCEPGWNPYNRNCYKLQKEEKTWHEALRSCQADNSALIDITSLAEVEFLVTLLGDENASETWIGLSSNKIPVSFEWSNDSSVIFTNWHTLEPHIFPNRSQLCVSAEQSEGHWKVKNCEERLFYICKKAGHVLSDAESGCQEGWERHGGFCYKIDTVLRSFDQASSGYYCPPALVTITNr|arkdtfqwkelktt* 05BR045 ENSG00000124212.6 ENSG00000042062.13 -/- -/- chr20:49511028 chr20:50620132 CDS/splice-site CDS/splice-site duplication 3 0 0 30 5 medium in-frame . Cytochrome_P450(100%)| . . ENSG00000124212.6 ENSG00000042062.13 ENST00000244043.5 ENST00000327979.8 upstream downstream . ^(GCCAGCCCCGCCAGCCCCGCGATGGCTTGGGCCGCGCTCCTCGGCCTCCTGGCCGCACTGTTGCTGCTGCTGCTACTGAGCCGCCGCCGCACGCG___GCGACCTGGTGAGCCTCCCCTGGACCTGGGCAGCATCCCCTGGTTGGGGTATGCCTTGGACTTTGGAAAAGATGCTGCCAGCTTCCTCACGAGGATGAAGGAGAAGCACGGTGACATCTTTACT___ATACTGGTTGGGGGCAGGTATGTCACCGTTCTCCTGGACCCACACTCCTACGACGCGGTGGTGTGGGAGCCTCGCACCAGGCTCGACTTCCATGCCTATGCCATCTTCCTCATGGAGAGGATTTTTGATGTGCAGCTTCCACATTACAGCCCCAGTGATGAAAAGGCCAGGATGAAACT___GACTCTTCTCCACAGAGAGCTCCAGGCACTCACAGAAGCCATGTATACCAACCTCCATGCAGTGCTGTTGGGCGATGCTACAGAAGCAGGCAGTGGCTGGCACGAGATGGGTCTCCTCGACTTCTCCTACAGCTTCCTGCTCAG___AGCCGGCTACCTGACTCTTTACGGAATTGAGGCGCTGCCACGCACCCATGAAAGCCAGGCCCAGGACCGCGTCCACTCAGCTGATGTCTTCCACACCTTTCGCCAGCTCGACCGGCTGCTCCCCAAACTGGCCCGTGGCTCCCTGTCAGTGG___GGGACAAGGACCACATGTGCAGTGTCAAAAGTCGCCTGTGGAAGCTGCTATCCCCAGCCAGGCTGGCCAGGCGGGCCCACCGGAGCAAATGGCTGGAGAGTTACCTGCTGCACCTGGAGGAGATGGGTGTGTCAGAGGAGATGCAGGCACGGGCCCTGGTGCTGCAGCTGTGGGCCACACAG___GGGAATATGGGTCCCGCTGCCTTCTGGCTCCTGCTCTTCCTTCTCAAGAATCCTGAAGCCCTGGCTGCTGTCCGCGGAGAGCTCGAGAGTATCCTTTGGCAAGCGGAGCAGCCTGTCTCGCAGACGACCACTCTCCCACAGAAGGTTCTAGACAGCACACCTGTGCTTG___ATAGCGTGCTGAGTGAGAGCCTCAGGCTTACAGCTGCCCCCTTCA)TCACCCGCGAGGTTGTGGTGGACCTGGCCATGCCCATGGCAGACGGGCGAGAATTCAACCTGCGACGTGGTGACCGCCTCCTCCTCTTCCCCTTCCTGAGCCCCCAGAGAGACCCAGAAATCTACACAGACCCAGAG___GTATTTAAATACAACCGATTCCTGAACCCTGACGGATCAGAGAAGAAAGACTTTTACAAGGATGGGAAACGGCTGAAGAATTACAACATGCCCTGGGGGGCGGGGCACAATCACTGCCTGGGGAGGAGTTATGCGGTCAACAGCATCAAACA|AAAGTCCATCAACAGGAACTCCGTGAGATCGCGAATGCCTGCAAAATCCTCCAAGATGTACGGCAC(GCTGCGGAAGGGGTCGGTCTGTGCAGACCCGAAGCCCCAGCAGGTGAAGAAGATCTTCGAAGCATTGAAAAGAGGCCTCAA___GGAGTATCTGTGTGTGCAGCAGGCTGAGCTGGACCACCTGTCTGGACGCCACAAAGACACCAGGAGGAATTCCAGGCTG___GCTTTCTATTATGACCTGGACAAG___CAAACGCGCTGTGTGGAAAGGCACATTCGGAAGATGGAGTTTCACATCAGCAAG___GTGGATGAGCTGTACGAGGACTACTGCATCCAGTGCCGCCTGCGCGACGGCGCCTCCAGCATGCAGCGGGCCTTCGCCCGGTGCCCCCCGAGCCGCGCAGCCCGAGAGAGCCTGCAGGAGCTGGGCCGCAGCCTGCACGAGTGCGCCGAG___GACATGTGGCTCATCGAGGGGGCCCTGGAGGTTCACCTGGGCGAGTTCCACATCAGGATGAAAG___GCTTGGTGGGCTACGCACGCCTCTGTCCCGGAGACCACTATGAG___GTGCTCATGCGTCTGGGCCGCCAGCGTTGGAAGCTCAAGGGTCGGATCGAGTCAGATGACAGCCAGACCTGGGACGAAGAGGAGAAGGCCTTCATCCCCACGCTGCATGAGAACCTGGACATCAAG___GTGACGGAGTTGCGGGGCCTGGGCTCGCTGGCTGTGGGTGCAGTGACGTGTGACATCGCCGACTTCTTCACGACGCGGCCGCAGGTCATCGTGGTGGACATCACGGAGTTGGGTACCATCAAGCTGCAGCTGGAGGTGCAGTGGAA___CCCGTTTGATACTGAGAGCTTCCTGGTGTCACCCAGCCCCACGGGCAAGTTTTCTATGGGCAGCAGGAAGGGCTCCTTGTACAACTGGACACCCCCGAGCACCCCCAGCTTCCGGGAGAGATACTACCTG___TCTGTCCTACAGCAGCCAACACAGCAGGCCTTGCTGCTGGGTGGCCCAAGGGCCACCTCCATCCTCAGCTACCTGTCTGACAGCGACCTCCGGGGTCCCAGCCTAAGAAGCCAGAGTCAGGAGCTGCCTGAGATGGACTCCTTCAGCTCTGAGGACCCCCGAGACACGGAGACCAGCACGTCGGCGTCCACCTCAGATGTGGGCTTCCTGCCCTTGACCTTCGGTCCCCACGCCTCCATTGAAGAGGAGGCTCGGGAGGACCCCCTGCCCCCAGGTCTCCTGCCAGAGATGGCCCACCTCTCTGGAGGCCCGTTTGCAGAGCAGCCTGGCTGGAGGAACTTAGGAGGGGAGAGCCCCAGCCTGCCACAGGGCTCCCTGTTCCACAGCGGCACAGCCTCGAGTAGCCAGAACGGCCACGAGGAAGGGGCAACCGGGGACAGAGAGGACGGGCCTGGCGTGGCCCTCGAGGGGCCTCTGCAGGAGGTCCTGGAGTTGCTGAGGCCCACGGACTCCACCCAGCCCCAGCTCCGGGAGCTGGAGTACCAGGTCCTCGGCTTCCGGGACCGGCTGAAG___CCCTGCAGAGCACGGCAGGAGCACACCTCGGCCGAGAGCCTGATGGAGTGCATCCTGGAGAGCTTCGCCTTCCTCAATGCCGACTTCGCCCTGGATGAGCTGTCCCTGTTTGGGGGCTCCCAGGGTCTCCG___AAAGGACCGGCCCCTGCCCCCACCGTCATCACTGAAAGCGTCATCCAGGGAACTCACAGCCGGTGCCCCAGAGCTGGACGTGCTGCTGATGGTACACCTCCAAGTCTGCAAAGCTCTGCTGCAG___AAACTGGCCTCCCCTAATTTATCAAGGCTGGTCCAGGAATGCCTCCTGGAAGAAGTGGCACAGCAAAAGCACGTTCTGGAGACACTTTCTGTCCTTGACTTTGAGAAGGTCGGCAAGGCAACATCCATTGAAGAGA___TCATCCCACAGGCCTCGCGGACGAAGGGGTGCCTGAAGCTGTGGAGAGGGTGCACAGGGCCTGGCAGGGTCCTGTCCTGCCCTGCCACGACGCTGCTGAACCAGCTCAAGAAAACCTTCCAGCACAGAGTCAGAGGGAAGTACCCAGGACAGCTGGAAATAG___CGTGCCGCAGGCTCCTGGAGCAGGTGGTCAGCTGTGGTGGGCTGCTCCCCGGAGCTGGGCTCCCAGAAGAACAGATCATTACCTGGTTCCAGTTTCACAGCTACCTGCAGAGGCAGAGCGTCTCTGACCTGGAGAAGCACTTCACCCAGCTCACCAAGGAAG___TGACACTCATCGAGGAGCTTCACTGTGCGGGACAGGCCAAGGTGGTCCGGAAGCTGCAGGGGAAGCGGCTGGGCCAGCTCCAGCCTCTGCCCCAGACCTTAAGAGCCTGGGCGCTGCTCCAGCTGGACGGCACTCCGAGGGTGTGCAGGGCGGCCAGCGCTCGCCTGGCTGGTGCAGTCAGGAACAGAAGCTTCCGGGAAAAG___GCTTTGCTGTTCTACACCAACGCCCTGGCAGAGAACGACGCAAGGCTCCAGCAGGCCGCATGCCTAGCGCTCAAACACCTCAAG___GGCATTGAAAGCATCGACCAGACTGCCAGCCTGTGCCAGTCTGACCTGGAGGCCGTGCGGGCGGCAGCCCGGGAAACCACACTGTCGTTCG___GTGAAAAAGGACGGTTAGCTTTTGAGAAGATGGACAAGCTCTGCTCAGAACAAAGAGAAGTCTTTTGCCAGGAGGCAGATGTTGAAATCACAATATTTTAAAAAATCCTGGCTGATGAGCACAAATCTCACATCGTTTTTTTTGCTGCTGCCCAGCCTGGACATAGCCTGCACTCTGGGTAATGGTGCTGTGCACTCCTCCAGGAGTGTGAGCTGCCCAGAGCTCTACCTGAGACTCCGGCCATTGACCCAGCCCCAGGGCATGGGCTGGTCTTTTGTACAGAGGCAGAAAAAAGCAAGGCAAAGGTACAGCATTCCAGGGGCTGCACGGCCTCAACAGAGCGCTCAACTTCTGGCTGAGGGTCTGTGTGACCTTCCCCGAGATGCAGAGCTGAGCCAAACTAGGTGGCCACCTACAAAAGGGCCAAGGCCAGGCAAGTTGAGGCCCTAAATAAAAGGCTCCAAGGCAAGTGTGTAGAACTCCAGGCCTCGCTGCCGGTCAGCTGCTCGGCACTTCTGCGTCAAGAGGCACTGGGGATGCAGCAGGCTGGCAGGTGGCTGGCCCTGCTAATGCAAGACTGCTCAGGCCATTTCAGCAGCAGCCAGGTGTCACCTTGGTGAGCTGGGGAAGGTGGGAAGGCACAAAGCCAGGGTTTCTACAACCACACTCTCAGCCCGACTGACTTGCTGCGAGTGCTGGTGGAGCTCACAGACGGCGGCTGGTGGATGGTGGACTGTGAACCTCACTTTCCCTATGTTCAGCAGCACAAAGGGAAGAAGCCACCACATCAGCCCAGGAGCCCTGAGCAGCACAGGCAGTAGGGCCACTCACTTTGGCCATCCGCACCCAAATGCAATCAATCAACCCAGCTTCGGAAGCTACCCTAGGATCTCGTCAATAAACTGCTAAGAAGCCATCAACTGGCCTAAAGAAAGAGTTCACTGAAGAACGCAATTGCTTTAAAGAAAGAAAAATTAGTTTCCTATTTAAGTCTTAAAAAAAAGCAAACCATGTCCTGAGATGTCTGTGTTAATAGTGCAGAGAGAACCTAGGGTTTGAGGTTGCTGTAGCAATGGCATTGGAGAACTTTAACTTGAACATTCTCATCGATACTTCCTGGACATATTTTGTGTTTTTAACTTACTTAGTATTTATTTGCCTTGTTCATATGTTCAATTTTCTGAAATTTCAATTAAACTATTGGTGTTTCACTTTTTACCCAAAA)$ MAWAALLGLLAALLLLLLLSRRRTRRPGEPPLDLGSIPWLGYALDFGKDAASFLTRMKEKHGDIFTILVGGRYVTVLLDPHSYDAVVWEPRTRLDFHAYAIFLMERIFDVQLPHYSPSDEKARMKLTLLHRELQALTEAMYTNLHAVLLGDATEAGSGWHEMGLLDFSYSFLLRAGYLTLYGIEALPRTHESQAQDRVHSADVFHTFRQLDRLLPKLARGSLSVGDKDHMCSVKSRLWKLLSPARLARRAHRSKWLESYLLHLEEMGVSEEMQARALVLQLWATQGNMGPAAFWLLLFLLKNPEALAAVRGELESILWQAEQPVSQTTTLPQKVLDSTPVLDSVLSESLRLTAAPFITREVVVDLAMPMADGREFNLRRGDRLLLFPFLSPQRDPEIYTDPEVFKYNRFLNPDGSEKKDFYKDGKRLKNYNMPWGAGHNHCLGRSYAVNSIKq|KSINRNSVRSRMPAKSSKMYGTLRKGSVCADPKPQQVKKIFEALKRGLKEYLCVQQAELDHLSGRHKDTRRNSRLAFYYDLDKQTRCVERHIRKMEFHISKVDELYEDYCIQCRLRDGASSMQRAFARCPPSRAARESLQELGRSLHECAEDMWLIEGALEVHLGEFHIRMKGLVGYARLCPGDHYEVLMRLGRQRWKLKGRIESDDSQTWDEEEKAFIPTLHENLDIKVTELRGLGSLAVGAVTCDIADFFTTRPQVIVVDITELGTIKLQLEVQWNPFDTESFLVSPSPTGKFSMGSRKGSLYNWTPPSTPSFRERYYLSVLQQPTQQALLLGGPRATSILSYLSDSDLRGPSLRSQSQELPEMDSFSSEDPRDTETSTSASTSDVGFLPLTFGPHASIEEEAREDPLPPGLLPEMAHLSGGPFAEQPGWRNLGGESPSLPQGSLFHSGTASSSQNGHEEGATGDREDGPGVALEGPLQEVLELLRPTDSTQPQLRELEYQVLGFRDRLKPCRARQEHTSAESLMECILESFAFLNADFALDELSLFGGSQGLRKDRPLPPPSSLKASSRELTAGAPELDVLLMVHLQVCKALLQKLASPNLSRLVQECLLEEVAQQKHVLETLSVLDFEKVGKATSIEEIIPQASRTKGCLKLWRGCTGPGRVLSCPATTLLNQLKKTFQHRVRGKYPGQLEIACRRLLEQVVSCGGLLPGAGLPEEQIITWFQFHSYLQRQSVSDLEKHFTQLTKEVTLIEELHCAGQAKVVRKLQGKRLGQLQPLPQTLRAWALLQLDGTPRVCRAASARLAGAVRNRSFREKALLFYTNALAENDARLQQAACLALKHLKGIESIDQTASLCQSDLEAVRAAARETTLSFGEKGRLAFEKMDKLCSEQREVFCQEADVEITIF* 05BR045 ENSG00000181090.21 ENSG00000187609.16 +/+ -/+ chr9:137758011 chr9:137352525 CDS/splice-site intron duplication/5'-5' 0 3 0 70 8 medium out-of-frame . . . . ENSG00000181090.21 ENSG00000187609.16 ENST00000460843.6 . downstream upstream duplicates(1) ^(GGGGCCACGCTGCGGGCCCGGGCCATGGCCGCCGCCGATGCCGAG___GCAGTTCCGGCGAGGGGGGAGCCTCAGCAGGATTGCTGTGTGAAAACCGAGCTGCTGGGAGAAG___AGACACCTATGGCTGCCGATGAAGGCTCAGCAGAGAAACAGGCAGGAGAGGCCCACATGGCTGCGGACGGTGAGACCAATGGGTCTTGTGAAAACAGCGATGCCAGCAGTCATGCAAATGCTGCAAAGCACACTCAGGACAGCGCAAGGGTCAACCCCCAGGATGGCACCAACACACTAACTCGGATAGCGGAAAATGGGGTTTCAGAAAGAGACTCAGAAGCGGCGAAGCAAAACCACGTCACTGCCGACGACTTTGTGCAGACTTCTGTCATCGGCAGCAACGGATACATCTTAAATAAGCCGGCCCTACAGGCACAGCCCTTGAGGACTACCAGCACTCTGGCCTCTTCGCTGCCTGGCCATGCTGCAAAAACCCTTCCTGGAGGGGCTGGCAAAGGCAGGACTCCAAGCGCTTTTCCCCAGACGCCAGCCGCCCCACCAGCCACCCTTGGGGAGGGGAGTGCTGACACAGAGGACAGGAAGCTCCCGGCCCCTGGCGCCGACGTCAAGGTCCACAGGGCACGCAAGACCATGCCGAAGTCCGTCGTGGGCCTG___CATGCAGCCAGTAAAGATCCCAGAGAAGTTCGAGAAGCTAGAGATCATAAGGAACCAAAAGAGGAGATCAACAAAAACATTTCTGACTTTGGACGACAGCAGCTTTTACCCCCCTTCCCATCCCTTCATCAGTCGCTACCTCAGAACCAGTGCTACATGGCCACCACAAAATCACAGACAG___CTTGCTTGCCTTTTGTTTTAGCAGCTGCAGTATCTCGGAAGAAAAAACGAAGAATGGGAACCTATAGCCTGGTTCCTAAGAAAAAGACCAAAGTATTAAAACAGAGGACGGTGATTGAGATGTTTAAGAGCATAACTCATTCCACTGTGGGTTCCAAG___GGGGAGAAGGACCTGGGCGCCAGCAGCCTGCACGTGAATGGGGAGAGCCTGGAGATGGACTCGGATGAGGACGACTCAGAGGAGCTCGAGGAGGACGACGGCCATGGTGCAGAGCAGGCGGCCGCGTTCCCCACAGAGGACAGCAGGACTTCCAAGGAGAGCATGTCGGAGGCTGATCGCGCCCAGAAG___ATGGACGGGGAGTCCGAGGAGGAGCAGGAGTCCGTGGACACCGGGGAGGAGGAGGAAGGCGGTGACGAGTCTGACCTG___AGTTCGGAATCCAGCATTAAGAAGAAATTTCTCAAGAGGAAAGGAAAGACCGACAGTCCCTGGATCAAGCCAGCCAGGAAAAGGAGGCGGAGAAGTAGAAAGAAGCCCAGCGGTGCC)CTCG___GTTCTGAGTCGTATAAGTCATCTGCAGGAAGCGCTGAGCAGACGGCACCAGGAGACAGCACAGGGTACATGGAAGTTTCTCTGGACTCCCTGGATCTCCGAGTCAAAGGAATTCTGTCTTCACAAGCAGAAG|CCACTGGCGTGAAGACTGGTGAGCTGTCGTCCCAAGGGTAGGGGCCACCCTGGGCGGAACCCACCCCTGGCTGGGGTCACCCTGGCGGCGCTCACCTCCCCTGGAGCCTGAACCGGCGGAGTTCCACAGCCACCGCAGCCGGCAGCCGCTCCTCGGGCAGCAAGAGgTCCATGGC MAAADAEAVPARGEPQQDCCVKTELLGEETPMAADEGSAEKQAGEAHMAADGETNGSCENSDASSHANAAKHTQDSARVNPQDGTNTLTRIAENGVSERDSEAAKQNHVTADDFVQTSVIGSNGYILNKPALQAQPLRTTSTLASSLPGHAAKTLPGGAGKGRTPSAFPQTPAAPPATLGEGSADTEDRKLPAPGADVKVHRARKTMPKSVVGLHAASKDPREVREARDHKEPKEEINKNISDFGRQQLLPPFPSLHQSLPQNQCYMATTKSQTACLPFVLAAAVSRKKKRRMGTYSLVPKKKTKVLKQRTVIEMFKSITHSTVGSKGEKDLGASSLHVNGESLEMDSDEDDSEELEEDDGHGAEQAAAFPTEDSRTSKESMSEADRAQKMDGESEEEQESVDTGEEEEGGDESDLSSESSIKKKFLKRKGKTDSPWIKPARKRRRRSRKKPSGALGSESYKSSAGSAEQTAPGDSTGYMEVSLDSLDLRVKGILSSQAE|atgvktgelssqg* 05BR045 ENSG00000270011.7 ENSG00000268623.2 +/+ +/+ chr19:9379616 chr19:18040694 CDS exon deletion 1 2 0 71 2 medium out-of-frame . KRAB_box(100%)| . . ENSG00000270011.7 ENSG00000268623.2 ENST00000541595.6 ENST00000594322.2 downstream upstream . ^(GGGCATTTCGAGCATCTTGTGGGCTCTCCCAAGTCGCGGCCCCTCCTCTGAGAGCCACAGTCAG___GAACAGCATCTCTGCCTTCCTGTTCACGGTGACCTTCGCTTGGTGTCCTCCTGGCCTCAGCAACCTGACAATTCTGTCGTGTCCCG___ATCATCTTTCTCAAGATGTTTTCTGTCTTCATGAGTCAAAATTTGAAGAGGAAAGGATGGTGGCTGGGTGGTTGACAAATTACTCTCAG___TTGCTTTGATTAGAAAGTTTGGCTTTGCTGAGATACGTAGTTGGAAAAGAGAGAAGCATTTTCAG___TTTCTTCAGTGTACTAGATGGCTGACTGGGAAGATTCCAGGGTCCCAACAGGCTTCAGAGTTGCGAAGGCTCTAGAG___GGCTGGGTATAAGTAAGCAAGAAGAGGGCCTGGGAGAAGAGTCTGACGAGCAAGGGGAAGGTAGCCAAGGATGGAGTGAAATACAGG___AGATGCGGTCTTGCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGCTCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTACATTTATATTTAAAGTAATTATTGATGG___CTCTGCCTGCTTAGGACTCTGCCCAGCCAGGAAGGAAACCTACAGGAGGAAGAATGGCTGCAGGGTGGCTGACAACCTGGTCACAG___AACTCAGTAACCTTCCAGGAAGTGGCAGTGGACTTTTCCCAGGAGGAGTGGGCATTGCTGGACCCTGCTCAAAAAAATCTATA)CAAAGATGTGATGCTGGAGAACTTTAGGAACCTGGCCTCAGTAG___GGTATCAGCTCTGCAGACACAGTCTGATCTCCAAGGTGGATCAAGAACAGCTGAAGACAGATGAAAGAGGAATTTTACAAGGTGACTGTG|TCAGGAAAGGGGCATTCTTTTGCTTGGTGAAGTGCCCCCAGAGCCCACGCTGATCAATGAGCTGTATGGGCTGGGGGTGGATGCCATCTTTGGCTTCAGCTTCAAGGGCAATGTTTGAAAGCCATTCTGTAACATTCTGAGTGTCCTGAATAGACTCACTGTGCCACTGCCAATGCTGACATTCCCTTGGGATGGG(ACATGGAGAAGGAAAACTCCGGAGGGATCCAGCCAGACCTGCTTCTCCCCCTGATAGCACCCAAAAAGTCTGAAACCTAGTTTACAGATTGCTACCACTACTTGAGGGGTTGTTGACTACCACCTGCTTGGGAAAAGAAGTACCAGCTAAAACCTGCCATTGTACCCTAACCCTGAGTATGTCTCATCATCTGC)$ MAAGWLTTWSQNSVTFQEVAVDFSQEEWALLDPAQKNLYKDVMLENFRNLASVGYQLCRHSLISKVDQEQLKTDERGILQGDC|vrkgaffclvkcpqspr* 05BR045 ENSG00000188629.12 ENSG00000268623.2 +/+ +/+ chr19:9379616 chr19:18040694 CDS exon deletion 1 2 0 71 2 medium out-of-frame . KRAB_box(100%)| . . ENSG00000188629.12 ENSG00000268623.2 ENST00000343499.8 ENST00000594322.2 downstream upstream . ^(CGCCATCTCCCATAGCTGTCGCCTGCAGCTGAGAAAGGGTTGCTGTCCCAGCAGGCCAGGTCCAG___GGCTGGGTATAAGTAAGCAAGAAGAGGGCCTGGGAGAAGAGTCTGACGAGCAAGGGGAAGGTAGCCAAGGATGGAGTGAAATACAGG___GTGACCTGTGTTTTTCCCCTGGCTGCTTTGGAAATTATGGGAAAAAATCAAATACCAAGGAAGAAAAATCTATAATGAAATTAGATGTGGATTTCTTTTTATGTATTCAGCTTGGGGGCTTATGATACTTCTAGTACCCAAAG___AGATGCGGTCTTGCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGCTCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTACATTTATATTTAAAGTAATTATTGATGG___CTCTGCCTGCTTAGGACTCTGCCCAGCCAGGAAGGAAACCTACAGGAGGAAGAATGGCTGCAGGGTGGCTGACAACCTGGTCACAG___AACTCAGTAACCTTCCAGGAAGTGGCAGTGGACTTTTCCCAGGAGGAGTGGGCATTGCTGGACCCTGCTCAAAAAAATCTATA)CAAAGATGTGATGCTGGAGAACTTTAGGAACCTGGCCTCAGTAG___GGTATCAGCTCTGCAGACACAGTCTGATCTCCAAGGTGGATCAAGAACAGCTGAAGACAGATGAAAGAGGAATTTTACAAGGTGACTGTG|TCAGGAAAGGGGCATTCTTTTGCTTGGTGAAGTGCCCCCAGAGCCCACGCTGATCAATGAGCTGTATGGGCTGGGGGTGGATGCCATCTTTGGCTTCAGCTTCAAGGGCAATGTTTGAAAGCCATTCTGTAACATTCTGAGTGTCCTGAATAGACTCACTGTGCCACTGCCAATGCTGACATTCCCTTGGGATGGG(ACATGGAGAAGGAAAACTCCGGAGGGATCCAGCCAGACCTGCTTCTCCCCCTGATAGCACCCAAAAAGTCTGAAACCTAGTTTACAGATTGCTACCACTACTTGAGGGGTTGTTGACTACCACCTGCTTGGGAAAAGAAGTACCAGCTAAAACCTGCCATTGTACCCTAACCCTGAGTATGTCTCATCATCTGC)$ MAAGWLTTWSQNSVTFQEVAVDFSQEEWALLDPAQKNLYKDVMLENFRNLASVGYQLCRHSLISKVDQEQLKTDERGILQGDC|vrkgaffclvkcpqspr* 05BR045 ENSG00000111850.11 ENSG00000216902.3 +/+ +/+ chr6:87322632 chr6:85256300 5'UTR/splice-site exon duplication 0 3 0 10 20 medium . . . . . ENSG00000111850.11 ENSG00000216902.3 ENST00000392863.6 ENST00000403365.1 downstream upstream duplicates(1) ^(GGGGCGG)GGCGTCTCGGGCGAGGAGAGGAGGTGACCCCGCGAAAG|CAACCCTCTGAGATAGGTTTATCATTACCACCTCATGGACCAGGATGCTGATGCACAGAGTGGGCCTGAGGAAGCTCATCAAGAGAAAAG___GCCTGGCACCATGGCTCCCACAAAAAAAGGGTGGTGAGAAGAAGGGCTGTTCTGCCATCAAAAGATGGTGACCCAAGACTACACCATCAATGACATTCACAAGCGCATCAGTGAAGTGGGCTTCAAGAAGCATGCCCCTCGGGCACTCCAAGAGAACCAG(AAATTTGCCATGAAGGAGATGGACACTCCAGATGTGTCCATTGATGCCAGGCTCAACAAAGCTGTCTGGGCCAAAGAAATAAGGAATATCTGATACCATATCTGTGTTATTGTCTGGAAAACATAATGAGAATGAAGATTCACTAAACAAGCTCTATACGTTGGTTATCTATGTACCTGTTACCACTTTCAAAAATCTACAGCCAATATGAATAAGA)$ . 05BR045 ENSG00000104626.15 ENSG00000239078.1(15944),ENSG00000197334.2(2780) +/+ ./+ chr8:9020464 chr8:9088460 CDS/splice-site intergenic deletion/read-through 2 1 0 25 5 medium out-of-frame . Exonuclease(100%),SAP_domain(100%)| . . ENSG00000104626.15 . ENST00000519292.5 . downstream upstream . ^(CGCTGGCGTTCCGCGCACGCCGGCTCACTGCGCCTGCCCGGCGTGTGGACGCCACACGCTCCCGGAAGTGGGAGGTGGCCGCTGGAGTTTGTGTGGCCGCCGCCGCGGGAACGCGAGCCCGGTAATTTTTCAACGGAGAAAGGCGAGGCTTTCGGGCTCTGCAGAGTGAGAGTTAGCAAGTGTCCGGCTCCAGCAACTCTCCTCTGGCGTGACAGCCGGCATGGAGGATCCACAGAGTAAAGAGCCTGCCGGCGAGGCCGTGGCTCTCGCGCTGCTGGAGTCGCCGCGGCCGGAGGGCGGGGAGGAGCCGCCGCGTCCCAGTCCCGAG___GAAACTCAACAGTGTAAATTTGATGGCCAGGAGACAAAAGGATCCAAGTTCATTACCTCCAGTGCGAGTGACTTCAGTGACCCGGTTTACAAAGAGATTGCCATTACGAATGGCTGTATTAATAGAATGAGTAAGGAAGAACTCAGAGCTAAGCTTTCAGAATTCAAGCTTGAAACTAG___AGGAGTAAAGGATGTTCTAAAGAAGAGACTGAAAAACTATTATAAGAAGCAGAAGCTGATGCTGAAAGAGAGCAATTTTGCTGACAGTTATTATGACTACATTTGTATTATTGACTTTGAAGCCACTTGTGAAGAAGGAAACCCACCTGAGTTTGTACATGAAATAATTGAATTTCCGGTTGTTTTACTGAATACGCATACTTTAGAAATA___GAAGACACGTTTCAGCAGTATGTAAGACCAGAGATTAACACACAGCTGTCTGATTTCTGCATCAGTCTAACTGGAATTACTCAG___GATCAGGTAGACAGAGCTGATACCTTCCCTCAGGTACT)AAAAAAAGTAATTGACTGGATGAAATTGAAGGAATTAGGAACAAAGTATAAATACTCACTTTTAACAGATGG___TTCTTGGGATATGAGTAAGTTCTTGAACATTCAGTGTCAACTCAGCAGGCTCAAATACCCTCCTTTTGCGAAAAAGTGGATCAATATTCGGAAGTCATATGGAAATTTTTACAAG|AGAAAGAGGAAAGGACCAGGAGTGGCGACCGGCAAACCACAGCTTGTGTGGGAAGGAAATTTGACATGTGATGCAAGCGGACGTTTGTGTAAACTGCTGGGAGA MEDPQSKEPAGEAVALALLESPRPEGGEEPPRPSPEETQQCKFDGQETKGSKFITSSASDFSDPVYKEIAITNGCINRMSKEELRAKLSEFKLETRGVKDVLKKRLKNYYKKQKLMLKESNFADSYYDYICIIDFEATCEEGNPPEFVHEIIEFPVVLLNTHTLEIEDTFQQYVRPEINTQLSDFCISLTGITQDQVDRADTFPQVLKKVIDWMKLKELGTKYKYSLLTDGSWDMSKFLNIQCQLSRLKYPPFAKKWINIRKSYGNFYK|rkrkgpgvatgkpqlvwegnltcdasgrlckllg 05BR045 ENSG00000198429.10 ENSG00000179262.10 +/+ +/+ chr19:11887986 chr19:12948497 CDS/splice-site CDS/splice-site deletion 0 3 0 13 871 medium out-of-frame . |UBA/TS-N_domain(100%),XPC-binding_domain(100%) . . ENSG00000198429.10 ENSG00000179262.10 ENST00000429654.7 ENST00000586534.6 downstream upstream . ^(ACTGTTCCTCCAGACACTGAGGGGGTCGCATTCCTTACCTCACCTTTGTCCCTGCGCGGGCTGCGG)CTGGGATCCGGTCTTTCCAGCCCCGAGAGGGACCTGGTTCCTCTGCCCAGGCTTCTGTCACTCTGTCACCTACGCTATGCCCTGCTGTAGTCACAGGAGGTGTAGAGAGGACCCCGGGACATCTGAAAGCCAGGAAATG|CTCTGTTCCCTCTTCAGGTAGCAGCGGGCGAGAGGAAGACGCGGCCTCCACGCTAG___TGACGGGCTCTGAGTATGAGACGATGCTGACGGAGATCATGTCCATGGGCTATGAGCGAGAGCGGGTCGTGGCCGCCCTGAGAGCCAGCTACAACAACCCCC(ACCGAGCCGTGGAGTATCTGCTCACG___GGAATTCCTGGGAGCCCCGAGCCGGAACACGGTTCTGTCCAGGAGAGCCAGGTATCGGAGCAGCCGGCCACGGAAGCAG___CAGGAGAGAACCCCCTGGAGTTCCTGCGGGACCAGCCCCAGTTCCAGAACATGCGGCAGGTGATTCAGCAGAACCCTGCGCTGCTGCCCGCCCTGCTCCAGCAGCTGGGCCAGGAGAACCCTCAGCTTTTACAG___CAAATCAGCCGGCACCAGGAGCAGTTCATCCAGATGCTGAACGAGCCCCCTGGGGAGCTGGCGGACATCTCAGATGTGGAGGGGGAGGTGGGCGCCATAGGAGAGGAGGCCCCGCAGATGAACTACATCCAGGTGACGCCGCAGGAGAAAGAAGCTATAGAGAGG___TTGAAGGCCCTGGGCTTCCCAGAGAGCCTGGTCATCCAGGCCTATTTCGCGTGTGAAAAAAATGAGAACTTGGCTGCCAACTTCCTCCTGAGTCAGAACTTTGATGACGAGTGATGCCAGGAAGCCAGGCCACCGAAGCCCCCACCCTACCCTTATTCCATGAAAGTTTTATAAAAGAAAAAATATATATATATTCATGTTTATTTAAGAAATGGAAAAAAAAATCAAAAATCTTAAAAAAACAAGCAAACAGTCCAGCTTCCTGTCCTCCTAAAGTGGCCCCTGTTCCCATCTCCCGGGCCAGACAGCTGTCCCCCCGTCCTCCTCCCCAGCCCAGCCTGCTCAGAGAAGCTGGCAGGACTGGGAGGCGACAGATGGGCCCCTCTTGGCCTCTGTCCCAGCTCTCTGCAGCCAGACGGAAAGGCGGCTGCTTGCCTCTCCATCCTCCGAAAAACCCCTGAGGACCCCCCCCCATCCTCTTCTAGGATGAGGGGAAGCTGGAGCCCCAACTTTGATCCTCCATTGGAGTGGCCCAAATCTTTCCATCTAGGGCAAGTCCTGAAAGGCCCAAGGCCCCCTCCCCAGTCTGGCCTTGGCCTCCAGCCTGGAGAAGGGCTAACATCAGCTCATTGTCAAGGCCACCCCCACCCCAGAACAGAACCGTGTCTCTGATAAAGGTTTTGAAGTGAATAAAGTTTTAAAAACTA)$ MPCCSHRRCREDPGTSESQEM|lcslfr* 05BR045 ENSG00000198429.10 ENSG00000179262.10 +/+ +/+ chr19:11887986 chr19:12952689 CDS/splice-site CDS/splice-site deletion 1 1 0 13 767 medium in-frame . |UBA/TS-N_domain(100%),XPC-binding_domain(100%) . . ENSG00000198429.10 ENSG00000179262.10 ENST00000340180.5 ENST00000586534.6 downstream upstream . ^(CCGGTCTTTCCAGCCCCGAGA)GGGACCTGGTTCCTCTGCCCAGGCTTCTGTCACTCTGTCACCTACGCTATGCCCTGCTGTAGTCACAGGAGGTGTAGAGAGGACCCCGGGACATCTGAAAGCCAGGAAATG|CAAATCAGCCGGCACCAGGAGCAGTTCATCCAGATGCTGAACGAGCCCCCTGGGGAGCTGGCGGACATCTCAGATGTGGAGGGGGAGGTGGGCGCCATAGGAGAGGAGGCCCCGCAGATGAACTACATCCAGGTGACGCCGCAGGAG(AAAGAAGCTATAGAGAGG___TTGAAGGCCCTGGGCTTCCCAGAGAGCCTGGTCATCCAGGCCTATTTCGCGTGTGAAAAAAATGAGAACTTGGCTGCCAACTTCCTCCTGAGTCAGAACTTTGATGACGAGTGATGCCAGGAAGCCAGGCCACCGAAGCCCCCACCCTACCCTTATTCCATGAAAGTTTTATAAAAGAAAAAATATATATATATTCATGTTTATTTAAGAAATGGAAAAAAAAATCAAAAATCTTAAAAAAACAAGCAAACAGTCCAGCTTCCTGTCCTCCTAAAGTGGCCCCTGTTCCCATCTCCCGGGCCAGACAGCTGTCCCCCCGTCCTCCTCCCCAGCCCAGCCTGCTCAGAGAAGCTGGCAGGACTGGGAGGCGACAGATGGGCCCCTCTTGGCCTCTGTCCCAGCTCTCTGCAGCCAGACGGAAAGGCGGCTGCTTGCCTCTCCATCCTCCGAAAAACCCCTGAGGACCCCCCCCCATCCTCTTCTAGGATGAGGGGAAGCTGGAGCCCCAACTTTGATCCTCCATTGGAGTGGCCCAAATCTTTCCATCTAGGGCAAGTCCTGAAAGGCCCAAGGCCCCCTCCCCAGTCTGGCCTTGGCCTCCAGCCTGGAGAAGGGCTAACATCAGCTCATTGTCAAGGCCACCCCCACCCCAGAACAGAACCGTGTCTCTGATAAAGGTTTTGAAGTGAATAAAGTTTTAAAAACTA)$ MPCCSHRRCREDPGTSESQEM|QISRHQEQFIQMLNEPPGELADISDVEGEVGAIGEEAPQMNYIQVTPQEKEAIERLKALGFPESLVIQAYFACEKNENLAANFLLSQNFDDE* 05BR045 ENSG00000159842.15 ENSG00000104093.13(45666),ENSG00000104112.9(12993) -/- ./+ chr17:1083520 chr15:51668499 CDS/splice-site intergenic translocation 2 0 0 26 15 medium out-of-frame . RhoGEF_domain(100%)| . . ENSG00000159842.15 . ENST00000544583.6 . upstream upstream . ^(GGACTGCAGAGGGAACTTGCCTTGAAGAGGCCTGGTCCTTAAAGAGACACAGCACACACGGCCCGACCGGCAGCCCCAGAGCAGAGGCTCCACTGATGGCAGGCGCCCCTGGCTAGGCTCTGAGGTTCCTTTGCCCTCGCCTTGCTGAATGGTGAGCCGCTGCCTCTCGGAGCCCGTCTCCTTGACAGCCTGCCCTCGGCTCCTGCAGCCACTCCTGGGCCTGATGGGGACAGGGCCAGCCTGGTGGGTGGTGTCAGAGGTCCTGGCAGAGCAGCGTAGGCCTGGGATGCGTCTGCAGAATTCTGGCTGAACGAGCGAGGAGCACGGCCAGCTTCGGGGCCGTCGTGACCACAGGAGGGCAGAGGGCCAGCCCGTGAGCTCTGACCCCAGCTGGACGTGCTCTTGTTTCCCTTGGGGCTAAGGAGATTGGAGCCACTGAACTGAATCTCTGGGTTTTGGAGACTTAGAGAATCCATTGGACTCTTCTGCTGGCGTCTTTCTGAATGCTGATGGGGACTTGGTG___ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCT)ATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG|ATGTTCTTGTCTTAATATGTGGAACCTGTATGTTACCTTCTACGACAAAAGGG MPYIDESPTMSPQLSARSQGGGDGVSPTPPEGLAPGVEAGKGLEMRKLVLSGFLASEEIYINQLEALLLPMKPLKATATTSQPVLTIQQIETIFYKIQDIYEIHKEFYDNLCPKVQQWDSQVTMGHLFQKLASQLGVYKAFVDNYKVALETAEKCSQSNNQFQKISE|mfls* 05BR045 ENSG00000123908.12 ENSG00000176956.12(9968),ENSG00000277494.2(42539) -/- ./- chr8:140635485 chr8:143170679 CDS/splice-site intergenic duplication 0 2 0 0 38 medium out-of-frame . . . . ENSG00000123908.12 . ENST00000220592.10 . upstream downstream duplicates(1) ^(CTGTTTGGCGAGGCGGCCGCGCCGGGGCGGATCGTGCGGCCGGCGGCTCCCTCGCGGCTCGCGGCGTCGGGG)CCCGTGGCGCGCGCGCGGCCGCCCCTCGGCCCCGGAGCCCCTCGGCGGCGCCACCATGTACTCGGGAGCCGGCCCCG|GGCTTCCTCCCAGCACAGCAGCCAGCACCCCCCAGGATGCCAGAGAGCCAGAGAGCACAGCGAAGACAGAGCCACAGGCTTTGTAACCGGATCTCGGGAGCCACATCCCGTCACTCTGCTGTGCCAGCTTCATCAGAA MYSGAGP|glppstaastpqdarepestaktepqal* 05BR045 ENSG00000120071.14 ENSG00000160305.18 -/- +/+ chr17:46170855 chr21:46539877 CDS/splice-site CDS/splice-site translocation 2 0 0 28 15 medium out-of-frame . |AMP-binding_enzyme(100%) . . ENSG00000120071.14 ENSG00000160305.18 ENST00000574590.6 ENST00000417564.3 upstream upstream . ^(GGGCGGAAGATTCCCCGCCCCCACTTCTAGGCTTGGTTGAACCGTGCAG___ATACCTTCTCGAAACAAAAGATTTTCCTACCTGCTTATACTTGGTAACCGAGGGAATTACTAAGACTTCTTGCTCATTTCTGAGTATTGTCTTTATATCCTGACACTATGAATGCTACTTGGATGCCTCTTAAG___TCTGTTCTCTGGGGAGGCAGTAAGGGGCCGTGGAGCTGGCCTCGGCCTCGGCATCGGGAGAGGCTGGACTTCCTGTCTCTCTGTGCTGAATGGCTGCGATGGCGCCCGCTCTCACTGACGCAGCAGCTGAAGCACACCATATCCGGTTCAAACTGGCTCCCCCATCCTCTACCTTGTCCCCTGGCAGTGCCGAAAATAACGGCAACGCCAACATCCTTATTGCTGCCAACGGAACCAAAAGAAAAGCCATTGCTGCAGAGGATCCCAGCCTAGATTTCCGAAATAATCCTACCAAGGAAGACTTGGGAAAGCTGCAACCACTGGTGGCATCTTATCTCTGCTCTGATGTAACATCTGTTCCCTCAAAGGAGTCTTTGAAGTTGCAAGGGGTCTTCAGCAAGCAGACAGTCCTTAAATCTCATCCTCTCTTATCTCAGTCCTATGAACTCCGAGCTGAGCTGTTGGGGAGACAGCCAGTTTTGGAGTTTTCCTTAGAAAATCTTAGAACCATGAATACGAGTGGTCAGACAGCTCTGCCACAAGCACCTGTAAATGGGTTGGCTAAGAAATTGACTAAAAGTTCAACACATTCTGATCATGACAATTCCACTTCCCTCAATGGGGGAAAACGGGCTCTCACTTCATCTGCTCTTCATGGGGGTGAAATGGGAGGATCTGAATCTGGGGACTTGAAGGGGGGTATGACCAATTGCACTCTTCCACATAGAAGCCTTGATGTAGAACACACAACTTTGTATAGCAATAATAGCACTGCAAACAAATCCTCTGTCAATTCCATGGAACAGCCGGCACTTCAAGGAAGCAGTAGATTATCACCTGGTACAGACTCCAGCTCTAACTTGGGGGGTGTCAAATTGGAGGGTAAAAAGTCTCCCCTGTCTTCCATTCTTTTCAGTGCTTTAGATTCTGACACAAGGATAACAGCTTTACTGCGGCGACAGGCTGACATTGAGAGCCGTGCCCGCAGATTACAAAAGCGCTTACAGGTTGTGCAAGCCAAGCAGGTTGAGAGGCATATACAACATCAGCTGGGTGGATTTTTGGAGAAGACTTTGAGCAAACTGCCAAACTTGGAATCCTTGAGACCACGGAGCCAGTTGATGCTGACTCGAAAGGCTGAAGCTGCCTTGAGAAAAGCTGCCAGTGAGACCACCACTTCAGAGGGACTTAGCAA)CTTTCTGAAAAGCAATTCAATTTCAGAAGAATTGGAGAGATTTACAGCTAGTGGCATAGCCAACTTGAGGTGCAGTGAACAGGCATTTGATTCAGATGTCACTGACAGTAGTTCAGGAGGGGAGTCTGATATTGAAGAGGAAGAACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT|GGTCGATCTCCTCCTGTGACGCCTTCCTCAACGTCTTCCAGTCCAGAGGTCTGAGGCCAGAGGTCATCTGTCCTTGTGCAAGTTCTCCTGAGGCGCTGAC(TGTCGCCATCCGCAG___GCCACCTGATCTGGGAGGACCACCTCCAAGAAAAGCAGTCCTGTCGATGAACGGTCTAAGTTATGGTGTTATCAGAGTGGATACTGAAGAAAAGTTGTCAGTCCTTACTGTTCAGGACGTTGGTCAGGTGATGCCTGGAG___CTAATGTATGTGTTGTGAAGTTAGAAGGTACCCCTTATCTTTGTAAAACTGATGAAGTGGGAGAAATATGCGTCAGTTCCAGTGCAACTGGCACAGCGTACTATGGATTGCTTGGAATCACGAAGAATGTGTTTGAG___GCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCT___GACAACCTGGTCTTCATCGTGGGCAAACTGGACGGGCTGATGGTCACTGGAGTTCGCAGACACAATGCAGATGACGTTGTGGCCACCGCACTGGCCGTGGAGCCCATGAAGTTTGTCTACAGAGGCAG___GATCGCTGTGTTCTCTGTGACCGTGCTGCACGACGACCGGATTGTCCTGGTGGCTGAGCAGCGGCCGGATGCCTCGGAGGAGGACAGCTTCCAGTGGATGAGCCGTGTGCTGCAG___GCCATTGATAGCATCCACCAGGTGGGCGTGTACTGTCTGGCCCTGGTTCCTGCCAACACCTTGCCCAAGGCTCCTCTCGGAGGGATTCACATTTCTGAAACCAAACAGCGCTTTCTGGAAGGGACGCTGCACCCGTGTAATGTGCTGATGTGCCCTCACACCTGTGTTACCAACCTCCCCAAACCTCGTCAGAAACAACCAG___AGGTTGGACCAGCCTCAATGATCGTGGGGAACCTGGTTGCTGGGAAGAGAATCGCTCAGGCTTCCGGGAGAGAGCTCGCCCACCTGGAGGACAGCGACCAGGCACGGAAG___TTCCTGTTCCTGGCTGACGTGCTGCAGTGGCGTGCCCACACCACTCCTGACCACCCGCTGTTCTTGCTGCTGAACGCCAAG___GGCACCGTCACAAGCACTGCAACCTGTGTCCAGCTGCACAAAAGGGCTGAGAGAGTGGCCGCGGCTCTGATGGAGAAGGGAAGACTGAGTGTTGGGGACCATGTGGCTCTGGTCTACCCACCAG___GGGTGGACCTCATTGCCGCGTTCTATGGCTGCTTGTACTGTGGCTGCGTGCCTGTCACCGTGCGGCCCCCGCACCCTCAGAACCTCGGCACCACACTGCCCACCGTCAAGATGATCGTGGAG___GTCAGCAAGTCTGCATGCGTCCTCACCACGCAGGCTGTCACACGGCTGCTCAGGTCCAAGGAGGCTGCTGCTGCCGTGGACATCAGGACCTGGCCCACCATCCTAGACACAG___ATGACATCCCAAAAAAGAAGATAGCAAGCGTTTTCAGGCCCCCCTCCCCCGATGTCCTCGCATACTTGGACTTCAGCGTGTCAACCACTGGGATATTAGCGGGAGTGAAG___ATGTCGCACGCGGCCACAAGCGCCTTATGCCGCTCCATAAAGCTGCAGTGTGAGCTGTACCCCTCGCGGCAGATCGCCATCTGCCTCGACCCCTACTGTGGCCTTGGTTTTGCCCTGTGGTGTCTGTGCAG___TGTCTACTCGGGACACCAATCAGTGCTGGTGCCCCCGCTGGAGCTGGAGAGCAACGTGTCCCTGTGGCTGTCGGCCGTCAGCCAGTACAAGGCCCGCGTCACCTTCTGCTCCTACTCTGTGATGGAGATGTGCACCAAGGGCCTAGGCGCACAGACGGGTGTCCTCAGG___ATGAAGGGGGTGAACCTGTCATGTGTGCGCACGTGCATGGTGGTCGCCGAGGAGCGGCCCAGGATTGCGCTGACCCAGTCCTTCTCCAAGCTCTTCAAGGACCTGGGCCTGCCGGCCCGCGCCGTAAGCACCACGTTCGGGTGCAGGGTCAACGTGGCCATCTGCCTCCAG___GGCACAGCTGGCCCGGACCCCACAACCGTCTACGTGGACATGCGGGCACTGCGCCATGACAG___GGTTCGTTTGGTAGAACGGGGTTCTCCGCACAGCCTGCCATTGATGGAGTCTGGAAAG___ATCCTCCCCGGCGTGAAGGTCATCATCGCACACACCGAGACCAAAGGACCCTTGGGAGACTCACACCTGGGAGAG___ATCTGGGTAAGCAGCCCCCACAATGCCACCGGGTACTACACCGTTTACGGGGAGGAGGCGCTTCATGCCGACCACTTCAGTGCCCGGCTGAGTTTTGGAGACACACAGACCATCTGGGCAAGGACCGGCTACCTTGGCTTCCTTCGGCGAACAGAGCTCACTGATGCCAGTGGAG___GGCGGCACGATGCACTGTATGTGGTTGGGTCTCTGGATGAAACTCTGGAGCTCAGAGGCATGCGGTACCACCCCATCGACATTGAGACCTCTGTCATCCGAGCACACAGGAGCATCGCTGAGTG___TGCCGTATTCACCTGGACCAACCTGCTGGTGGTGGTGGTGGAGCTGGATGGGCTAGAGCAGGATGCCCTGGACCTGGTGGCCCTGGTGACCAACGTGGTGCTGGAGGAGCACTACCTGGTCGTGGGAGTGGTGGTCATCGTGGACCCAGGGGTGATCCCTATCAACTCTCGGGGTGAGAAGCAGCGCATGCACCTGCGGGACGGCTTCCTGGCTGACCAGCTGGACCCCATCTATGTCGCCTACAACATGTGAGCGCAGCACACCGGCCCAGGTGCCGGAGATGAATGAGCCCCAGCAGTCCAAGGTGTGATGTGGGAAGACACCGCAGAGCTCACTCACCGGGACTCGCCCTTCCTGTGCTCTTACAGATCCCTCTCAACAATCCCCGCATCTCCTTTTAGAAAGCACTTCCTGAATTATTTAAAGAAATATTTTGAATCTGCCAAGTACATTTACAAAAACACGGATGCTGGTATTTTAACAGATGGAGAGACAAGGAAAGGAAAGGAAAGGCCTGGCATGGGCATTGTGAGGAATCACAGGCACCGAGGTTGTTCTCTGCTGTACTGCAAGTTTGCACTTTCTTTAGGCTAAAAATATAGTTCCTGATTTTTAAAATTCAGTTATTTATTCCCACTTCAAATGACAAGTTCATATATAGAATTTACGGGAGAAACTTGAGACCATTTACGGGGAGAAACTTGATTCTGGGAAGATAGCAGAGTACAAACCAGCTGCCTCACTTCTGTTTCACAGGGAGGCTGATGGAAAAAGGAAGCAAGCTGGACCCATCCTCCCTGCTCACAGAGGGCACTGTGGTCACACACAGTGCCTCCTCTGCCAGTTCCTTTATTGAAAGAGGTGTGCTGGCTGGCCACGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTATGAACCAGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGCACGAGATGCCGTCTTAAAAAAACAAAAAAGAGGTGTGCTGCTTGTCAGCATGTATTGTCACGGACACTCAATAAGTGCCATTTTGGACTGTCAAATTTAGATGCTTTGTTTCAGAAAGATAAGCCAGCATTTAGTTTTAAATCACTTTCCTGGTTTGTAACTTGATGCTGTTTAGTTAAATTGCTAGTTTTCCTAACACTACAATATTAATTCTTCTCGTGGAAGTGTACTGATTTATTATTTTTATTCCAAGTCAGCAGATTTGGAAGCATTGTGGTAAAGTCTAAGGTTTTCATATCCATAGTGCTGTTTGGTGAGTACCGGCAGTACAGTTGAGGGGAGCAGGGAACAGCATTGCCCCGTATTGAAGGTGGAGATGGTTACATTCTTCACTGCTTTTTGCATTTTGAGTTGTGTGCCTATAAAATTTGGCCAAACCATTTTATTATTTTGTTCAAACTTGACTAAGCTGAGTGATCTAAAATTATACAGAACCTAAATCAAAGAAGAGAATGTAAAGTCCTTTAGTTACTTCTAAGAATTTGAAGTCAAGCACGAATCTAAGACATAGATTATTTTTATATAGCTAATGAAGAGTATGTTACGAAATTGTTGGGTTTTTGGGGTATTGAGGGTGGCAAATTTTGTGAATCATGCATGCTTCACAGAAACAACCAGGTTTTTCCAGAATTAGTCTGGATCAGTGCCTAACAAAGCTGTTATTAATTCTCCACACATGAGTCTGGCTAACTGGGCCAGCTCTCATGTTTTACTCCTGTCTGGCTACAAATAGCACTGTGCATAGTAGCCCTGTTTCCCCATGGTGTTGGACTGTGGTAAAGTATGTTGTGACATACTGGAATTCTAATAATCCTGTTGTAAGTATGTACAGAATCTATGTAACTTATTGTTGACATACAGAGGTTTGGGAAGTAGTCTAATGGACATTCCTTACAATAGAATGGCTGGGAAGGGAAAGAAAAAAAAAAAAAAACTACCTAACTCCAATCTTAATGTTGTAGTTTTATAGCAAACAAAAATTGTCAGCTTTTTGTATTGAAAGGTCAGTGGTGGTAAGACAAGGTGTCTTGTAAATTAAGATTTTAAGAAGTGCATTAAAATGTTTTAGAATTACTCTGGGAATTCTGTATATCACACTAAAATTTTTATATCATTATGTTAATAAAAGTTATTGACTTTGTAATTCTGCATTTTGAAATGTGTGAAAAGGGTCTTTAAATTACCCCGAATAGGTTGTATCTTATTTTGCTTTTTTTCTGACTATAAAAGCAGTTATGCTTATAGCATAAAATCTAGAAAGCACATTAAAGTATAAAGAAAATTAAAATTTCTTATAATTCTACCTCTGAGTAAACAGCAGCATTCGTATGTAACATAAACCCTCTCAGGGATTTATTTTTTCTTTTTAAAAATTTTTTACAAAATTAGGATCAAGTGCTTTTTTAAATAATTTGCTTTTGTACTTAATAAATTATAGACTTTAAAATCTA)$ MAAMAPALTDAAAEAHHIRFKLAPPSSTLSPGSAENNGNANILIAANGTKRKAIAAEDPSLDFRNNPTKEDLGKLQPLVASYLCSDVTSVPSKESLKLQGVFSKQTVLKSHPLLSQSYELRAELLGRQPVLEFSLENLRTMNTSGQTALPQAPVNGLAKKLTKSSTHSDHDNSTSLNGGKRALTSSALHGGEMGGSESGDLKGGMTNCTLPHRSLDVEHTTLYSNNSTANKSSVNSMEQPALQGSSRLSPGTDSSSNLGGVKLEGKKSPLSSILFSALDSDTRITALLRRQADIESRARRLQKRLQVVQAKQVERHIQHQLGGFLEKTLSKLPNLESLRPRSQLMLTRKAEAALRKAASETTTSEGLSNFLKSNSISEELERFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTRADPEQRHVPl|vdlll* 05BR045 ENSG00000166689.16 ENSG00000006611.16 -/- -/- chr11:17013989 chr11:17524535 CDS/splice-site CDS/splice-site duplication 2 0 0 16 4 medium in-frame . |PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%) . . ENSG00000166689.16 ENSG00000006611.16 ENST00000531066.6 ENST00000318024.8 upstream downstream duplicates(1) ^(GCGCTCGGCGAACATGGCGGCGGCGACGGTCGGGCG)GGACACTTTACCTGAGCATTGGTCCTACGGGGTGTGCCGGGATGGCCGCGTCTTCTTCATCAA___TGACCAGCTCCGCTGCACGACCTGGCTGCAcCCGCGCACCGGGGAGCCCGTCAACTCGGGCCACATGATCCGCTCAG___ACCTGCCCCGCGGCTGGGAGGAGGGCTTCACGGAGGAGGGCGCCAGCTACTTCATCGA|CATTTCCAGCGGCCCCATCCAGAAGCCTGGCATCTTTATCAGCCATGTGAAACCTGGCTCCCTGTCTGCTGAGGTGGGATTGGAG(___ATAGGGGACCAGATTGTCGAAGTCAATGGCGTCGACTTCTCTAACCTGGATCACAAGGAG___GCTGTAAATGTGCTGAAGAGTAGCCGCAGCCTGACCATCTCCATTGTAGCTGCAGCT___GGCCGGGAGCTGTTCATGACAGACCGGGAGCGGCTGGCAGAGGCGCGGCAGCGTGAGCTGCAGCGGCAGGAGCTTCTCATGCAGAAGCGGCTGGCGATGGAGTCCAACAAGATCCTCCAGGAGCAGCAGGAGATGGAGCGGCA___AAGGAGAAAAGAAATTGCCCAGAAGGCAGCAGAGGAAAATGAGAGATACCGGAAGGAGATGGAACA___GATTGTAGAGGAGGAAGAGAAGTTTAAGAAGCAATGGGAAGAAGACTGGGGCTCAAAGGAACAGCTACTCTTGCCTAAAACCATCACTGCTGAGGTACACCCAGTACCCCTTCGCAAGCCAAAGT___ATGATCAGGGAGTGGAACCTGAGCTCGAGCCCGCAGATGACCTGGATGGAGGCACGGAGGAGCAGGGAGAGCAG___GATTTCCGGAAATATGAGGAAGGCTTTGACCCCTACTCTATG___TTCACCCCAGAGCAGATCATGGGGAAGGATGTCCGGCTCCTACGCATCAAGAAG___GAGGGATCCTTAGACCTGGCCCTGGAAGGCGGTGTGGACTCCCCCATTGGGAAGGTGGTCGTTTCTGCTGTGTATGAGCGGGGAGCTGCTGAGCGGCATG___GTGGCATTGTGAAAGGGGACGAGATCATGGCAATCAACGGCAAGATTGTGACAGACTACACCCTGGCTGAGGCTGAGGCTGCCCTGCAGAAGGCCTGGAATCAGGGCGGG___GACTGGATCGACCTTGTGGTTGCCGTCTGCCCCCCAAAGGAGTATGACGATGAGCT___GACCTTCTTCTGAAGTCCAAAAGGGGAAACCAAATTCACCGTTAGGAAACAGTGAGCTCCGGCCCCACCTCGTGAACACAAAGCCTCGGATCAGCCTTGAGAGAGGCCACACTACACACACCAGATGGCATCCTTGGGACCTGAATCTATCACCCAGGAATCTCAAACTCCCTTTGGCCCTGAACCAGGGCCAGATAAGGAACAGCTCGGGCCACTCTTCTGAAGGCCAACGTGGAGGAAAGGGAGCAGCCAGCCATTTGGGAGAAGATCTCAAGGATCCAGACTCTCATTCCTTTCCTCTGGCCCAGTGAATTTGGTCTCTCCCAGCTCTGGGGGACTCCTTCCTTGAACCCTAATAAGACCCCACTGGAGTCTCTCTCTCTCCATCCCTCTCCTCTGCCCTCTGCTCTAATTGCTGCCAGGATTGTCACTCCAAACCTTACTCTGAGCTCATTAATAAAATAGATTTATTTTCCAGCTTA)$ MAAATVGRDTLPEHWSYGVCRDGRVFFINDQLRCTTWLHPRTGEPVNSGHMIRSDLPRGWEEGFTEEGASYFId|ISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF* 05BR045 ENSG00000143797.12 ENSG00000145063.15 -/- -/- chr2:8943187 chr2:11124785 CDS/splice-site exon/splice-site duplication 2 0 0 52 1 medium out-of-frame . . . . ENSG00000143797.12 ENSG00000145063.15 ENST00000305997.8 ENST00000536743.5 upstream downstream . ^(ATCCTCGTCGTCGCCCGGCACAGCGCGAGCGGGCGAGCGGCGCGGGCGGCCGGAGCGCCGAGGCCCGGCCATGGCCACCACCAGCACCACGGGCTCCACCCTGCTGCAGCCCCTCAGCAACGCCGTGCAGCTGCCCATCGACCAG___GTCAACTTTGTAGTGTGCCAACTCTTTGCCTTGCTAGCAGCCATTTGGTTTCGAACTTATCTACATTCAAGCAAAACTAGCTCTTTTATAAGACATGTAGTTGCTACCCTTTTGGGCCT)TTATCTTGCACTTTTTTGCTTTGGATG___GTATGCCTTACACTTTCTTGTACAAAGTGGAATTTCCTACTGTATCATGATCATCATAGGAGTGGAGAACATGCACAA|CTTCCCATGGGTGGCCAGCCGAATGCATTATGGGAGAAAGCAGG(TCTCGTGGATAATATTTCTGAAGATCGGAGCAGGTTGCCAGGTCCACGTCGGCCATGACTGCAGCACGCTCCGGAGGCAGCAGGGGGCACCCTGGAGCTTCGCATCCTCCTTCAGGCCCGCGGCATCTCCCCTGGCTCCACCATCCCCAGGTGTCTCAG___CAGCAGCCTTGTGGCTGTGCCTCTTCTGTGCCCTCCGAGTTCTAGGCTGAGGGTGAGGATTGGATGAGTTGATCCACGCAAGGCTCCTGGCACAGTGCCTGGCATATGGTTAAATAGACTTGAAGTTATAATTACCAG___GCCTGTTTCCTCCTCATGAGAGGTGGAGCGGTGGTTCCCAAACACGATGTGGGAAGTGTGTTAAAATGCAGATCCTGGGCTCGACCCTGAAGCTCTTCCGGCATCCACCTTCCCAGGTGACCAGACTCTGGGGAAGGCATCACCTCAAGACTCCTGCACCCTTCCTCCAGAGTCCTGGGATTCAGCTAAATCCTGGGAAG___CTCACTGCTGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGGGTAGCTACAACTGCATATGTGCATCATCACGCCTGG___GTGCCTGCCTCCCTGCTGCGCCTGGCCACGTGGAAACCCCTGTAGCTCCCTGGCTGTGCAGGAGCAGCCACAGTGTGCCCCTCCCAGGACCACCATCCCCCTCACTGTCTCTGAGGCACCTGCGTGGACCGGGTCTGGATTGAGTCTCATTTCTCTGGATTCCCACGGCAGCCGGCGGCTGCCTCTCCCACACCCGTCACTCTGTGTCATGGAAAGCTGTGTGTTTGTCTTCATTCCCACCGAGTCTGAGCCACTCGAGGTCAGGGCCATGACCGTGAGCTACACGTCCTTGGCGCCCAGTGTGAGCCGTGTACAGTAGAGGCTGACTGACGTCTTGGAGGCAGAA)$ MATTSTTGSTLLQPLSNAVQLPIDQVNFVVCQLFALLAAIWFRTYLHSSKTSSFIRHVVATLLGLYLALFCFGWYALHFLVQSGISYCIMIIIGVENMHn|fpwvasrmhygrkqvswiiflkigagcqvhvghdcstlrrqqgapwsfassfrpaasplappspgvsaaalwlclfcalrvlg* 05BR045 ENSG00000168234.13 ENSG00000046647.13 +/+ -/- chr18:24015038 chrX:14026221 CDS/splice-site 5'UTR/splice-site translocation 1 1 0 75 33 medium in-frame . Protein_of_unknown_function_(DUF3808)(100%)| . . ENSG00000168234.13 ENSG00000046647.13 ENST00000317571.8 ENST00000380523.8 downstream downstream duplicates(1) ^(CCCCTCCCCTCCCGGCTCCGCTTGGCTCCGGGCAGGTAGAGCCGGGCTCCGGGCGCGCGCGGGGCCGCAGCAGCTGCTCCCGATCTCGCCTCGGCCCAGCGCAGGGCCTCGCACGCCCATGGCCGGCTCGGAGCAGCAGCGGCCGCGGCGGCGGGACGA)CGGAGACTCGGACGCGGCAGCGGCGGCGGCGGCGCCCCTGCAGGACGCGGAGCTGGCCCTGGCCGGCATCAACATGCTGCTCAACAACGGCTTCAGGGAGTCGGACCAGCTTTTCAAACAATACAG|CTCCACCAGCCCATTGGAGAAAAGTTACTGTTCAGTCCCTGAAGGCTTGTGCCATAAAAGAGTGGGAGACATTCCCAGGGAG___TTTCAGCACCCATTTGGACTTTCACAATCAGAGATGGCAGCGGT(AAAG___GCATCAACATCGAAAGCTACCAGGCCTTGGTATTCTCATCCGGTATATGCAAGATACTGGCAACATTATCATCAAGCAATGGCTTGGATGCAAAGCCATCACAATGCCTACAGGAAGGCCGTGGAATCCTGTTTCAATCTTCCATGGTACTTACCTTCTGCGCTTCTTCCCCAAAGCTCTTACGATAATGAGGCTGCGTATCCTCAGTCCTTCTATGACCATCATGTGGCCTGGCAGGACTACCCCTGCAGTTCTTCACATTTCAGAAGATCTGGGCAGCATCCACGTTACAGCAGTAGGATCCAGGCATCCACAAAAGAAGACCAAGCTTTGTCCAAAGAGGAAGAGATGGAGACTGAGTCAGATGCAGAGGTAGAATGTGACCTGAGCAATATGGAAATCACTGAAGAGCTCCGCCAGTACTTTGCAGAGACCGAGAGGCATAGAGAAGAACGAC___GGCGGCAGCAGCAGCTGGATGCAGAGCGCCTGGACAGCTATGTGAACGCTGACCACGACCTGTACTGCAACACCCGCCGGTCGGTAGAAGCCCCAACTGAGAGGCCTGGTGAGCGGCGCCAGGCCGAGATGAAGCGTTTGTACGGGGACAGTGCTGCCAAGATCCAAGCCATGGAGGCCGCGGTGCAGCTGAGCTTTGACAAGCACTGTGACCGAAAGCAGCCCAAGTACTGGCCGGTCATCCCCCTGAAGTTCTGAGCTCAGGGCACAGGGTACCCAGCCTCTCCTTCTTCCTTTTGGGTACACGCTCTTTATCTCTCCTTCTGTACATTTCTTAGGGAAAGGGGACTTTGTACTGGGGTACAGGCATGTTCACCACAGTCCCAGTGGGCCTGTCACGGGGTGGATGTACTATGCCAGCCACTTGGAGGTCTGCAGGACATGTTCTGTTGCCAACATGATAAATTTTCTCCTGACATAAAATAATTTTGCATATACTATACTGGTTTTTTATGTTGTTGGTAACAGTTCAATTCATTAACGTTCTTGCCTAGAGATACTGCCTGGTGTTTTGCTTTTTTATCTTTTCTTGTCTTTAACCTGTCTGAACTACACAAATGCCTTTAAAAAACCAGATATCCTCTCTGACTCTAGCTCCATTAGCCCCCACTAAAAATGAGCCAAGTGTGTAGTGAGACAAATACCACTACCTGTAGTGGAGAGGGATGCATGTTCTATAAAGGGCCAGAGAGTGAATATCTTTGGCACTGCAAGCCACACGGTCAGTGTTGTGACTACTCAACCCTCCCTTTGTAGTGTGAAAGCAGCTGTAGACAGTAAGTAAACAAATGGGTGTGGCTGTGTTCTAATAAAACTTTATTTATAAAAACAG)$ MAGSEQQRPRRRDDGDSDAAAAAAAPLQDAELALAGINMLLNNGFRESDQLFKQYs|stspleksycsvpeglchkrvgdiprefqhpfglsqseMAAVKASTSKATRPWYSHPVYARYWQHYHQAMAWMQSHHNAYRKAVESCFNLPWYLPSALLPQSSYDNEAAYPQSFYDHHVAWQDYPCSSSHFRRSGQHPRYSSRIQASTKEDQALSKEEEMETESDAEVECDLSNMEITEELRQYFAETERHREERRRQQQLDAERLDSYVNADHDLYCNTRRSVEAPTERPGERRQAEMKRLYGDSAAKIQAMEAAVQLSFDKHCDRKQPKYWPVIPLKF* 05BR045 ENSG00000166016.6 ENSG00000110435.12(22042),ENSG00000255521.2(114485) -/- ./- chr11:34356701 chr11:35018170 CDS/splice-site intergenic duplication 0 2 0 26 6 medium out-of-frame . . . . ENSG00000166016.6 . ENST00000435224.3 . upstream downstream duplicates(1) ^(GCAGAAGTTTGCAGAGCGCTTTCTCGCCGGCTGGTCCCGGACTCGCGCTGCGCCCTGCGCCCTGCGCCGCCGCCTCCTCCTTCTGCCGCCGCCGCCCTGTTCTCCCGGGATTCCTTCTCTGTGGAGGACTGACTCTCTGCTTGTGGGAATTAGAGGTGGACAAGGGGGAGTGCCGGGGGGTAGCGACGGGGTTCTTTCCAGTGGCAGCTGCGAGTCGGGACGCCGGGAGCGTGGGGCTCCTGCTGGCCACGGATCTCGGCCACCTTCCCGCGGCCTCCGGGCAGGCAATGCGGCCGCCGAGCCCCGCGACGCAGAGAGGAAGGAGGGTGGCCCGGAGGGCCTAGAGCTTGTTTCTGCCCACTTGGGAAAGAGGGCATGGAGTTGTGAGTGCCCCTCGCTCGGCGACGCCGCCCTCGGCAGGCTCCCCATGGCCGGGACGTACAGCTCGACTCTGAAGACGCTGGAGGACTTGACCTTGGACTCCGGGTATGGGGCCGGGGACTCGTGCCGCTCGCTCAGCCTCTCGTCCTCCAAGTCCAACTCGCAGGCGCTCAACTCTTCGGCGCAGCAGCACCGCGGGGCGGCCTGGTGGTGCTACTCCGGCTCCATGAACAGCCGCCACAACAGCTGGGACACGGTGAACACGGTGCTGCCCGAGGACCCCGAAGTGGCCGACCTCTTCTCGCGCTGTCCGCGGCTCCCCGAGCTGGAGGAGTTCCCCTGGACCGAAGGAGACGTGGCCCGGGTGCTCCGCAAAGGCGCTGGCGGCCGGCGGCTGCCCCAGTTCTCCGCCGAGGCGGTGAGGCGCCTGGCCGGGCTGCTCCGCAGGGCACTGATCCGCGTGGCCCGCGAGGCGCAGCGCCTGAGCGTGCTGCACGCCAAGTGCACCCGCTTTGAGGTGCAGAGCGCCGTGCGCCTGGTGCACAGCTGGGCGCTGGCCGAGAGCTGCGCGCTGGCAGCCGTCAAGGCGCTGTCCCTGTACAGCATGAGCGCCGGCGACGGGCTGCGCCGGGGCAAGTCCGCGCGCTGCGGCCTCACCTTCTCAGTGGGTCGCTTTTTCCGCTGGATGGTGGACACCCGAATCTCCGTGCGCATCCACGAGTACGCAGCCATCTCCCTCACCGCCTGCATGGAGAACCTGGTGGAGGAGATCCGGGCCAGGGTGATGGCCAGCCACAGCCCTGATG)GCGGAGGGGCCGGAGGCGGGGAGGTGTCTGCTGAGGCCCTGGAGATGGTCATCAACAACGACGCCGAGCTCTGGGGCGTCTTGCAGCCCTATGAGCATCTCATCTGCGGCAAGAACGCCAATG|AGCTTTGAACCCTGAACCCAGCATTCTGAGAGTGGGAACCAGAAATGTGCATTTGAAAAGACTCCCCAGGCAATTCTGATGAGGAGCCAGTGAGCCTGCTGAACCAGGTGACTACTGACATCTCTTCTTTGAGTGACTTTCGAC MAGTYSSTLKTLEDLTLDSGYGAGDSCRSLSLSSSKSNSQALNSSAQQHRGAAWWCYSGSMNSRHNSWDTVNTVLPEDPEVADLFSRCPRLPELEEFPWTEGDVARVLRKGAGGRRLPQFSAEAVRRLAGLLRRALIRVAREAQRLSVLHAKCTRFEVQSAVRLVHSWALAESCALAAVKALSLYSMSAGDGLRRGKSARCGLTFSVGRFFRWMVDTRISVRIHEYAAISLTACMENLVEEIRARVMASHSPDGGGAGGGEVSAEALEMVINNDAELWGVLQPYEHLICGKNAN|el* 05BR045 ENSG00000166016.6 ENSG00000110435.12(102296),ENSG00000255521.2(34231) -/- ./- chr11:34356701 chr11:35098424 CDS/splice-site intergenic duplication 2 0 0 26 0 medium out-of-frame . . . . ENSG00000166016.6 . ENST00000435224.3 . upstream downstream . ^(GCAGAAGTTTGCAGAGCGCTTTCTCGCCGGCTGGTCCCGGACTCGCGCTGCGCCCTGCGCCCTGCGCCGCCGCCTCCTCCTTCTGCCGCCGCCGCCCTGTTCTCCCGGGATTCCTTCTCTGTGGAGGACTGACTCTCTGCTTGTGGGAATTAGAGGTGGACAAGGGGGAGTGCCGGGGGGTAGCGACGGGGTTCTTTCCAGTGGCAGCTGCGAGTCGGGACGCCGGGAGCGTGGGGCTCCTGCTGGCCACGGATCTCGGCCACCTTCCCGCGGCCTCCGGGCAGGCAATGCGGCCGCCGAGCCCCGCGACGCAGAGAGGAAGGAGGGTGGCCCGGAGGGCCTAGAGCTTGTTTCTGCCCACTTGGGAAAGAGGGCATGGAGTTGTGAGTGCCCCTCGCTCGGCGACGCCGCCCTCGGCAGGCTCCCCATGGCCGGGACGTACAGCTCGACTCTGAAGACGCTGGAGGACTTGACCTTGGACTCCGGGTATGGGGCCGGGGACTCGTGCCGCTCGCTCAGCCTCTCGTCCTCCAAGTCCAACTCGCAGGCGCTCAACTCTTCGGCGCAGCAGCACCGCGGGGCGGCCTGGTGGTGCTACTCCGGCTCCATGAACAGCCGCCACAACAGCTGGGACACGGTGAACACGGTGCTGCCCGAGGACCCCGAAGTGGCCGACCTCTTCTCGCGCTGTCCGCGGCTCCCCGAGCTGGAGGAGTTCCCCTGGACCGAAGGAGACGTGGCCCGGGTGCTCCGCAAAGGCGCTGGCGGCCGGCGGCTGCCCCAGTTCTCCGCCGAGGCGGTGAGGCGCCTGGCCGGGCTGCTCCGCAGGGCACTGATCCGCGTGGCCCGCGAGGCGCAGCGCCTGAGCGTGCTGCACGCCAAGTGCACCCGCTTTGAGGTGCAGAGCGCCGTGCGCCTGGTGCACAGCTGGGCGCTGGCCGAGAGCTGCGCGCTGGCAGCCGTCAAGGCGCTGTCCCTGTACAGCATGAGCGCCGGCGACGGGCTGCGCCGGGGCAAGTCCGCGCGCTGCGGCCTCACCTTCTCAGTGGGTCGCTTTTTCCGCTGGATGGTGGACACCCGAATCTCCGTGCGCATCCACGAGTACGCAGCCATCTCCCTCACCGCCTGCATGGAGAACCTGGTGGAGGAGATCCGGGCCAGGGTGATGGCCAGCCACAGCCCTGATGGCGGAGGGGCCGGAGGCGGGGA)GGTGTCTGCTGAGGCCCTGGAGATGGTCATCAACAACGACGCCGAGCTCTGGGGCGTCTTGCAGCCCTATGAGCATCTCATCTGCGGCAAGAACGCCAATG|ATGTGGAATCTGAGTTTGCACAGAGAGACTACAGGACTTGGAGGAGAATATGTAGGTG MAGTYSSTLKTLEDLTLDSGYGAGDSCRSLSLSSSKSNSQALNSSAQQHRGAAWWCYSGSMNSRHNSWDTVNTVLPEDPEVADLFSRCPRLPELEEFPWTEGDVARVLRKGAGGRRLPQFSAEAVRRLAGLLRRALIRVAREAQRLSVLHAKCTRFEVQSAVRLVHSWALAESCALAAVKALSLYSMSAGDGLRRGKSARCGLTFSVGRFFRWMVDTRISVRIHEYAAISLTACMENLVEEIRARVMASHSPDGGGAGGGEVSAEALEMVINNDAELWGVLQPYEHLICGKNAN|dvesefaqrdyrtwrricr 06BR003 ENSG00000151465.14 ENSG00000267250.1(32052),ENSG00000141338.14(37415) +/+ ./- chr10:12235123 chr17:68829874 CDS/splice-site intergenic translocation 57 39 3 253 127 high out-of-frame . D123(100%)| . . ENSG00000151465.14 . ENST00000281141.9 . downstream downstream duplicates(9),low_entropy(1),mismatches(1) ^(AGAGTTCCGGGAGGGTGCAGGCAGGAGAGGGAAAGGCAGCAGCGGCGGCAGCTGGAGGATGAAGAAGGAGCATGTGCTTCACTGCCAGTTCTCCGCGTGGTACCCGTTCTTCCGAGGCGTTACCATCAAGAG___TGTCATTCTTCCACTTCCTCAGAATGTGAAGGATTATTTACTCGATGATGGAACTCTGGTGGTTTCAGGAAG___GGATGATCCACCAACACATTCTCAGCCAGACAGTGATGATGAAGCAGAAGAAATACAG___TGGTCTGATGATGAGAACACAGCCACGCTTACG___GCACCAGAATTTCCTGAGTTTGCCACTAAAGTCCAGGAAGCTATCAATTCCCT)CGGGGGCAGTGTCTTTCCTAAGCTTAATTGGAGTGCCCCAAGG___GATGCGTATTGGATAGCAATGAATAGTTCTCTGAAATGTAAAACCCTCAGCGACATCTTTCTGCTTTTCAAGAGTTCCGATTTCATCACTCGTGACTTCACTCAGCC___GTTTATTCATTGTACTGATGATTCTCCAGATCCATGTATAGAATATGAG___CTCGTTCTCCGAAAATGGTGTGAATTGATTCCTGGGGCTGAGTTTCGATGTTTTGTCAAGGAAAACAAGCTTATTG|AACTGAGGATTTGAAAAGAACCAACCAAAATCTCAAgGGTACAGGAATGCTCCTCCCCAAGAATGCTGTTATCTGtAAAGACTTTCAGTGCTCTTTACTTTTCAATTACCTTGCCATAAGGATCTTATCACACCTCTCTCCACGTTCTCTTCCAGCCAAATTATAACAGAAACTAGGTGAATAGCCAGGTGATACATCAATTAAAATAATTTTTGATAATAGAATGCTTGATGACTTTTGTCAAATATCTTGGGAGACAAGCAAATACATCTATTTTTGCTCAAATAAGA MKKEHVLHCQFSAWYPFFRGVTIKSVILPLPQNVKDYLLDDGTLVVSGRDDPPTHSQPDSDDEAEEIQWSDDENTATLTAPEFPEFATKVQEAINSLGGSVFPKLNWSAPRDAYWIAMNSSLKCKTLSDIFLLFKSSDFITRDFTQPFIHCTDDSPDPCIEYELVLRKWCELIPGAEFRCFVKENKLI|elri* 06BR003 ENSG00000188825.14 ENSG00000226364.1(28843),ENSG00000227011.4(57089) -/- ./- chr17:43356392 chr17:52928431 exon/splice-site intergenic duplication 24 30 0 136 110 high . . . . . ENSG00000188825.14 . ENST00000658096.1 . upstream downstream duplicates(1) ^(GGAAACCCCGGAACTAGAACTGGT___ATCTCTTCAACTACCTGTGAAAACTGATGTGATGAAAAGGGGAATTTGAAGGAGCCATTCCAGAAGACAGGGCGAAAACTGAAGTGCAATCAGGGCCAAGAAAAACAGAAATAGCAGGACCTGGAGTTGCATAGGTTGAATAGTTGAATAGGCTGCTCTCCTCAGCTGGCAGGAAACCTGGCAGCCTCCTGGTGCCCAAGGACTGAAAACCTTAGAAGCACCTGGAGTTGGCAGCCTTGGCATGGTCAGGTTGGCACCTCTGGAGGTGCCCAGGCTTCCCTGGCAGCATTGTGAGCAGTGGATGGTGTTGAAGGGCAGCCAGAGGAGGAATGGAACACATGCTCCTTGCTAACCACACGGACAAGGCCACGTTCACAGGTACACAAAG___GCAACGCAGTTGCTCAGGTGCTTCGGTATCACAGCCAAGACCCCTTCGGGGGAAGCTAGTCGGATACTGGGACCCACATTCCAGACTACTGAGCCGCGGTCGCGCCCTCGGCTCCGTTTCTGCTCCCTCCACCCCACGAG___GACGGGGGTGGAAGGCCACCTTCGATGGGTGCATCCTCCACGATGACCTGCTAACAAAGGTGCATGGATTTCAGAGTCTGATTGGCCTACAACAGCATTTGGCTTGTGGAGACAGTGGTTCCCTGATGAAAAACTGCCATGAT___)CAGCCATCTGCACCCAAACCAGATGCCAAAATAACCAGGGAAGCCCAAGAGTGACGGGGCCCAAGACCTTCCGCTACACCTCCCGTCGGACAACTAGCCATATCTTCTGAGAAGCCTCAGATAACCCTTGACATGACAG|ACATTTGTACGTGGATTTTATAGCTCTTCAGTGTCTGCATGTTGACACGGACAGGAGAGAGGAAATACTGTGTAAAAGAGGGCAGTTCCTCAGAAAAGGCACCACCCTCAAGCCTGAAAACCCGTGGCCTGAAGTGAGAAGAGGCATTTCTGTTTTTGCATCCAAAAGTTGCCTTCTGACCCAACACACCCCCCTATCCTGTACCCATATAAACCCCAG . 06BR003 ENSG00000078114.18 ENSG00000154229.12 -/- +/+ chr10:21172383 chr17:66773987 CDS/splice-site CDS/splice-site translocation 6 37 0 263 103 high out-of-frame . LIM_domain(100%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000078114.18 ENSG00000154229.12 ENST00000417816.2 ENST00000413366.8 upstream upstream duplicates(1),inconsistently_clipped(3),mismappers(3),mismatches(1) ^(CCTGCGCGGCGGCGGCGGCGAGGCGGGGGAGCGAGTGAGCGCGAGGGGCGGGCGCGAGTGACTGTGTGAGTCACCCGTACCTGGAGTGCGAGCGACGCAGAGCCAGCGGCGCGGAGCCGGAGCCGGAGCCGAGACCCAGCGCCTGCGAGCCCGAGAGCGCGGCCGGCCCCAGGCGCCAGGCCCCGTCGCCCTCCCCGTGCACTCACCCGTGGCCCGGCGCCGACTCCCTACCCGGCGCCCGCCGCCCGCAGCCCTCCCGCCTGCCAGGAGGCGGTGCGGGGCTCGCCGGGGGATGTCACAGCGGCTCCTGGGAGCCAGCAGCCGCCGCCGCCGCCGCC)CCCGGGAACCGCGATCATGAACCCCCAGTGCGCCCGTTGCGGAAAAGTCGTGTATCCCACCGAGAAAGTCAACTGCCTGGATAAG___TATTGGCATAAAGGATGTTTCCATTGTGAGGTCTGCAAGATGGCACTCAACATGAACAACTACAAAGGCTATGAAAAGAAGCCCTATTGTAATGC|ATAATCGCTTATCAGCCGTATGGAAAATCTGTGGACTGGTGGGCCTATGGCGTCCTGTTGTATGAAATGCTTGCCGGGCAG___CCTCCATTTGATGGTGAAGATGAAGACGAGCTATTTCAGTCTATCATGGAGCACAACGTTTCCTATCCAAAATCCTTGTCCAAGGAGGCTGTTTCTaTCTGCAAAGGA___CTGATGACCAAACACCCAGCCAAGCGGCTGGGCTGTGGGCCTGAGGGGGAGAGGGACGTGAGAGAGCATGCCTTCTTCCGGAGGATCGACTGGGAAAAACTGGAGAACAGGGAGATCCAGCCACCATTCAAG(CCCAAAGTG___TGTGGCAAAGGAGCAGAGAACTTTGACAAGTTCTTCACACGAGGACAGCCCGTCTTAACACCACCTGATCAGCTGGTTATTGCTAACATAGACCAGTCTGATTTTGAAGGGTTCTCGTATGTCAACCCCCAGTTTGTGCACCCCATCTTACAGAGTGCAGTATGAAACTCACCAGCGAGAACAAACACCTCCCCAGCCCCCAGCCCTCCCCGCAGTGGGAAGTGAATCCTTAACCCTAAAATTTTAAGGCCACGGCCTTGTGTCTGATTCCATATGGAGGCCTGAAAATTGTAGGGTTATTAGTCCAAATGTGATCAACTGTTCAGGGTCTCTCTCTTACAACCAAGAACATTATCTTAGTGGAAGATGGTACGTCATGCTCAGTGTCCAGTTTAATTCTGTAGAAGTTACGTCTGGCTCTAGGTTAACCCTTCCTAGAAAGCAAGCAGACTGTTGCCCCATTTTGGGTACAATTTGATATACTTTCCATACCCTCCATCTGTGGATTTTTCAGCATTGGAATCCCCCAACCAGAGATGTTAAAGTGAGCCTGTCCCAGGAAACATCTCCACCCAAGACGTCTTTGGAATCCAAGAACAGGAAGCCAAGAGAGTGAGCAGGGAGGGATTGGGGGTGGGGGAGGCCTCAAAATACCGACTGCGTCCATTCTCTGCCTCCATGGAAACAGCCCCTAGAATCTGAAAGGCCGGGATAAACCTAATCACTGTTCCCAAACATTGACAAATCCTAACCCAACCATGGTCCAGCAGTTACCAGTTTAAACAAAAAAACCTCAGATGAGTGTTGGGTGAATCTGTCATCTGGTACCCTCCTTGGTTGATAACTGTCTTGATACTTTTCATTCTTTGTAAGAGGCCAAATCGTCTAAGGACGTTGCTGAACAAGCGTGTGAAATCATTTCAGATCAAGGATAAGCCAGTGTGTACATATGTTCATTTTAATCTCTGGGAGATTATTTTTCCATCCAGGGTGCCATCAGTAATCATGCCACTACTCACCAGTGTTGTTCACCAACACCCACCCCCACACACACCAACATTTTGCTGCCTACCTTGTTATCCTTCTCAAGAAGCTGAAGTGTACGCCCTCTCCCCTTTTGTGCTTATTTATTTAATAGGCTGCAGTGTCGCTTATGAAAGTACGATGTACAGTAACTTAATGGAAGTGCTGACTCTAGCATCAGCCTCTACCGATTGATTTTCCTCCCTTCTCTAGCCCTGGATGTCCACTTAGGGATAAAAAGAATATGGTTTTGGTTCCCATTTCTAGTTCACGTTGAATGACAGGCCTGGAGCTGTAGAATCAGGAAACCCGGATGCCTAACAGCTCAAAGATGTTTTGTTAATAGAAGGATTTTAATACGTTTTGCAAATGCATCATGCAATGAATTTTGCATGTTTATAATAAACCTTAATAACAAGTGAATCTATATTATTGATATAATCGTATCAAGTATAAAGAGAGTATTATAATAATTTTATAAGACACAATTGTGCTCTATTTGTGCAGGTTCTTGTTTCTAATCCTCTTTTCTAATTAAGTTTTAGCTGAATCCCTTGCTTCTGTGCTTTCCCTCCCTGCACATGGGCACTGTATCAGATAGATTACTTTTTAAATGTAGATAAAATTTCAAAAATGAATGGCTAGTTTACGTGATAGATTAGGCTCTTACTACATATGTGTGTGTATATATATGTATTTGATTCTACCTGCAAACAAATTTTTATTGGTGAGGACTATTTTTGAGCTGACACTCCCTCTTAGTTTCTTCATGTCACCTTTCGTCCTGGTTCCTCCGCCACTCTTCCTCTTGGGGACAACAGGAAGTGTCTGATTCCAGTCTGCCTAGTACGTTGGTACACACGTGGCATTGCCGCAGCACCTGGGCTGACCTTTGTGTGTGCGTGTGTGTGTGTTTCCTTCTTCCCTTCAGCCTGTGACTGTTGCTGACTCCAGGGGTGGGAGGGATGGGGAGACTCCCCTCTTGCTGTGTGTACTGGACACGCAGGAAGCATGCTGTCTTGCTGCCTCTGCAACGACCTGTCGTTTGCTCCAGCATGCACAAACTTCGTGAGACCAACACAGCCGTGCCCTGCAGGCACCAGCACGTGCTTTTCAGAGGCTGCGGACTTTCTTCCAGCCATTGTGGCATTGGCCTTTCCAGTCTTGGGAGGAGCGCGCTGCTTTGGTGAGACACCCCCATGCAAGGTCCTCAGAGTAGCCGGGTTCTACCACAAACAGAAACAGAATGAAAGTAGCTGTCAGTCCTTGTAGAGAGCCGCTCTGTTTCCTCCCAGAAGCATCTCCCAGCTAAGCTCGCATTATTTTTCTCCTCTGGCTGTTTGCCTGAAGTTCACAGAACACACAACCATGAAAGGCTTTTTGAGGTGAGAGGCCCAGGTGGTCCTGGCAACCCTGAGTAGAAGGAGAGACGGGGTAGGGAACGGGCCCGGCCAGAAAAGAACCATTTCTTCTGCCATCTTTTATGCACCATAGACATCGAGACTCCAGGGGGTCCTGGCTCCCCTGTCCCTGCAGCCCTGCAGGTCAGTGCATGATCTGGGTTCGTGTCCTGACCAGGTGCTCCTCCTTTGATCCGAGGGGAAAGGGACTGGTTTATAGAAAGAGCCTAGGAGACAAAAGGGCCAGTCCCCCTGCCCAGAATGGAGCAGCAGCAGGACAGACCCCCACGAGGCCCCCCAGAGAGGAGGAAGATCCCACGGAGGAACACATGAGGTTAGGGACCCTTGTTCAGCACCCCAAACAGCCTGCCTGTTTAAAGCAGGCAGCAGGCTTAGGCCTTCCCTGCAACCCCAACACCCACAAGTTTGTTTCTCTAGGAAACACATTCACTGTCTCAGCTGGCTGTTACTCTCTCAGACCATATGGCAAAGTTTTCCAAGAAAATGCCCCGACAGGGGTGCCCAGCACACTGCCTGAGGGACAACAGACATCAGAACAAACCCCCAGAGAGAAACAGTCAAAATCAGGGCCCGGTGCAGTGTTGTCATGTGGAACCTGCTTTATCCATTGCTGAGTGTTGAATGTGGGTAATGGTTAGGGCTTTCCAGATCTCAGCAGCCAAAGACAGTTATTGTTGGAAGACTGTCATGTAGATAACCATGAGCAATGGCTCGCCTCAGAATCAGTTCATAAAATTCTATGGTACTGGCCCCTTCGTGGGTATTGTGTGAAATGAGATGGTGGCGAGGGGTGCGCTGTGGAACTGCCGCAGCCACGCAGGAGGTCCCTGGGGGATGCTTTGGGAAGTCCTTGCCCCTGAGCACTGCCTGATTGCCAGGGCCTGTGGAGGTCTAGGCCGCCTGGCAGAATCTAGCACCGTCCGAATCCCCGCAGGACCCATGGAGCTATGACCACACCAGGCCATTCAAATGGCTCTGCATTATCTTCCCTTGGAAGGTGGCCACTCCTCGGTGGCAGGGCCTTTCCCTGAGGCTGCAGGCCGTGGGCTGGCAGCCCGTCTCTTGGCATTTCAATTGAAGGTCACCAGGTGCTGGGTTTGAAAGGAAGTCACTGGAGTGCTGCCAGGGGCCGCCCTCCAAGGTTAATGAGAGGCCCACATCCAGGCAAGAACTAATTCAAAAGGCAGATCAGAAACCACAGGAGTCAAAATTATTGCTCCGGCAGTGCTTCCCTTCCTTTCATCCACTGGCCTCGTGTGGTCCATGCAGGGCCACTGTCTGCCCTTTCTGATGCCACGTATTAGGCTTTCTTACTCAGAATTTTGATAGAAAACCATGGGGCCAAGAGCTCTGGAAGCCTGGCCGGAAAGACCAAGGTTCATGCAGCCCAACAAATGATTGTTGAGCACCTCTCGGAGCCAAAGTCCTTAGGCGAGTGTGGTGACTTCCTGGAAGGAGGATGCAGACTTCCAGAGAGCCCCCCCAACGGACGTGCTGAGAAGGGAGAGGGAGGCGGGGGCTGTAGTCAGGAAGGAGCCAGAGAAGAACAGGGTTTGGGTGCATCCAGAAATATGCCTGCAGTAGGAGGGAGAGGAAGGGGTGCCACCGTCAACGGCTTCCCATCGGAGGTGGTTGGTGCAGATGGAAGTTTCTGTCTGCTGGCCCTCAAGAGAGTGTTTTGCCAGGGACACAGTCTGTTCCTCCTCAGAAAACACCCCCCAAATGCTAACAACATCCCCACCAGCTGCTAGAAGCCCCTTTCCCCTCCCCACCTTGAAGTAGCTCATAGTTCTCTGGGCAGAGCCAGACCATCCAGTGTACCCCAGAGGCCAGTAGGTTCCTGCCCATTTTCCTCTCTGGCTTCCTGCCAAGAATTATGGCAGCTGAGGATGAATGGAGAAGTAAAAACAACTAACACCGCACAACTAACAACTAACACCGCAGTTCCCACCTGGGTTCCACTTAGCAGGAGACATTTCGGAGGGTTTTTTTTGTTTTTGTTCCTGTTTTTTTTTTTTTTGCTGGAATTTGTTTTCTCAGTACTGAAAAGAGAAAAAGTGACAATCTTGTATTTTTAAAAGCCTCGGAAAGGTGATACCATCTGACAGTCATTTTCTCACGTTGGTCTTCTAAAGTCACCTATTTCTTGTGTGTGCACATCACACCATTTCCTGTTTCTTTATAACCCGACAAGGGTAGGAGTGCCTGTTTCCCCTGCTGGGCACACCAGACAATCGTAATCACAAAACAGACACTGAGCCAGGGGCCCAAAGGGTGTGATCATGAGAGTTACCGGGACAGCAGTAGGCATGACAGTCACCAGGAAGGACAAGGGTGCTCTGTTGTTAGTGGCCACACACCAATTTGACAAGGAGTGTTGCGAAATTTTTATTTATTTATTTATTTATTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCGGTGGTACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAAATTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTTGAACCCCTGACCTCATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAAATATTTTTTTAAAGTCATTTTCCTTAAGCTGCTTGGGCTACATGTGAAATACACTGGACGGTCAACATTCCTGTCTCCTCCCATTTGGGCTGATGCAGCAGATCCAGGGAATGTTACCTGTTTCTGCTGCTAGAAGATCCAGGAAATTGGGAAGGTTACCTGACGCACACATGGATGAAGGCCATCATCTAGAAATGGGGTCAACCACAATTGTGTTAATTCCGTAGTGTCAGGGATTCTTCGGGAAGGTCAACAGTATGAAGGATTCTGACCCCTGTGCCTCCCATTTATGTGATCAGGTGACAGTTAATAACCGTGGAGGTCACACTCAGCCATCCAACAGCCTTACAGTGACCCTACACAAAAGCCCCCAAATTCCAAAGACTTTTTCTTAACCTAAAGGAAGAAATTATTTGTTAATTCCAGTAGAGCAACTGAATATACTGGGCTATTTGTACTTTTTTATAGAGAACTTTAATAATAATTCTTTAAAAATGAGTTTTTAGAACAAAGCAACTGACGATTTCCTAAGATTCCAATGCCCTGGAGCTTGTAGGAGGACTTAGCCTGGGTCAGCTGGAGCACCCCCGACCTGATCTCCCACTGCCAGATTTTCCCATGCTCCTAGGGTATGGAGTCCACGTGGGAATGACTGCAAGTTCAGGTGGAACTTGGCCGACTGATGCTCTGCGAGTTTTTAATAGACACTGGGGACAACTGCTTAAGGTTTAGAAACTTCCAAACCACAGGAAAGACATTTTTAGTGTCCCCCATCCAGAGGCAGCCCTGGAATAGGATTCCCAGGGGTTTCTGGGACCCCTTTCCTTGCTCCGTGAGGCTCTGTGGCCATCTTTTGGCAGGAGGAGGATGCTTCCTTGGCTCTGTGCCCAGACCCGCCTGGTCCCCAGGTCTCTCACCTTGGGTGAAGATTCAGAGATGCCCTGTAAGGATTTTGCCCACTGGGCAACTCAGAAATACTTCGATCTCCCAAGATATAAGAGGCAGCAGCAAACGTGCCTATTGACGTCTGTTTCATAGTTACCACTTACGCGAGTAGACAGAACTCGGCTTTTCAGAAAATAGGTGTCAAGTCCACTTTATAAGAACCTTTTTTTCTAAAATAAGATAAAAGGTGGCTTTGCATTTTCTGATTAAACGACTGTGTCTTTGTCACCTCTGCTTAACTTTAGGAGTATCCATTCCTGTGATTGTAGACTTTTGTTGATATTCTTCCTGGAAGAATATCATTCTTTTCTTGAAGGGTTGGTTTACTAGAATATTCAAAATCAATCATGAAGGCAGTTACTATTTTGAGTCTAAAGGTTTTCTAAAAATTAACCTCACATCCCTTCTGTTAGGGTCTTTCAGAATATCTTTTATAAACAGAAGCATTTGAAGTCATTGCTTTTGCTACATGATTTGTGTGTGTGAAGGACATACCACGTTTAAATCATTAATTGAAAAACATCATATAAGCCCCAACTTTGTTTGGAGGAAGAGACGGAGGTTGAGGTTTTTCCTTCTGTATAAGCACCTACTGACAAAATGTAGAGGCCATTCAACCGTCAAACACCATTTGGTTATATCGCAGAGGAGACGGATGTGTAAATTACTGCATTGCTTTTTTTTTCAGTTTGTATAACCTCTAATCTCCGTTTGCATGATACGCTTTGTTAGAAACATTAATTGTAGTTTGGAAGCAAGTGTGTATGAATAAAGATAATGATCATTC)$ MNPQCARCGKVVYPTEKVNCLDKYWHKGCFHCEVCKMALNMNNYKGYEKKPYCNa|* 06BR003 ENSG00000131759.18 ENSG00000188825.14 +/+ -/- chr17:40331396 chr17:43356530 CDS/splice-site exon/splice-site inversion 25 11 0 271 114 high out-of-frame . . . . ENSG00000131759.18 ENSG00000188825.14 ENST00000254066.10 ENST00000658096.1 downstream downstream mismatches(3) ^(GCAGCAGCCTAACCCAGAAGCAGGGGGGAATCCTGAATCGAGCTGAGAGGGCTTCCCCGGTTCTCCTGGGAACCCCATCGGCCCCCTGCCAGCACACACCTGAGCAG___CATCACAGGACATGGCCCCCTCAGCCACCTAGCTGGGGCCCATCTAGGAGTGGCATCTTTTTTGGTGCCCTGAAGGCCAGCTCTGGACCTTCCCAGGAAAAGTGCCAGCTCACAGAACTGCTTGACCAAAGGACCGGCTCTTGAGACATCCCCCAACCCACCTGGCCCCCAGCTAGGGTGGGGGCTCCAGGAGACTGAGATTAGCCTGCCCTCTTTGGACAGCAGCTCCAGGACAGGGCGGGTGGGCT)GACCACCCAAcCCCCATCTGGGCCCAGGCCCCATGCCCCGAGGAGGGGTGGTCTGAAGCCCACCAGAGCCCCCTGCCAGACTGTCTGCCTCCCTTCTGACTGTGGCCGCTTGGCATGGCCAGCAACAGCAGCTCCTGCCCGACACCTGGGGGCGGGCACCTCAATGGGTACCCGGTGCCTCCCTACGCCTTCTTCTTCCCCCCTATGCTGGGTGGACTCTCCCCGCCAGGCGCTCTGACCACTCTCCAGCACCAGCTTCCAGTTAGTGGATATAGCACACCATCCCCAGCCA|CAGCCATCTGCACCCAAACCAGATGCCAAAATAACCAGGGAAGCCCAAGAGTGACGGGGCCCAAGACCTTCCGCTACACCTCCCGTCGGACAACTAGCCATATCTTCTGAGAAGCCTCAGATAACCCTTGACATGACAG(___GAAAAGGACAACAACCTGTGTGGGTTCCCTCCCGACAACTGAAATTGCACCATAACTCCCAAGAAGAAACACTCCCAGAAACAAAAGGCAAAGACCCCTCTGAAACCAAAGAGCAAGTATCACCGCCTGACACATAAACTTCATGACCTCGACATTGAGACAAAATCTCGCCGTGTGACCTACAACACCACTCATTTAACTCCACCAACTTGGGGTCAAATAAAGGTCTTATCCCATCAACAGAAAAATCATTAAGAGAAAAATGAATCCCCAAAACGACAG___TCTGCAGATCCCGCAAGGAATCCGAAGACAAGTCCAAAGTCAACGACAAGCAATGATGGCAATGGTGATCCTAGTTAATAAAAAGCGGGGAGATGTGGGTGGCAAGCCACCCAGGTGCCGAGGCAAGAGACCGAGAGCACGAGCTGTTCCAGTGTAATAAAATATATAAAATAACAAGAGTTATACTGATATAGCTCATAGATATGATTATATATAAATACCATTAATCATTAGTTTGTAGTAATTACTCTTTATTCAAATATTATAATAATCCTCACTCTACAATCATAACCTAGAAAAAGGCAGGCCATGCAGAGATAGGAGCTGAGGGGACATGGTGAGAAGTGACAAGAAGACAAGAGTGTGAGCCTTTTGTTATGCCCAGGCAGGGCCACCAGAGGGCTCCTTGGTCTAGCAGTAATGCCAGCGTCTGGGAAGATGCCCGTACCAAGCGGACCATGGTCTAGTGGTAGCGTCAGTGCCAAGGAAAAGCACCTGCTACTGAGCAGACCAGGAAAGGGAGTCTCCCTTTCCCCAGGGGAGTTTAGAGAAGACTCTACTCCACCATCTCTTATGGAGGGCCTGACATAAGTCAGGCCTGCCTGCAGTTATCCAGAGGCCTGACCGTCTCCCTGTGATGCTGTGCTTCAGTAGTCATGCTCCTGGTCTGCTTTCATGTTCCATCCTGTACACCTGGCTCTGCCTTCTAGATAGCAATAGCAGAATTACTGAAAGTATTAAAAGTCTCTGAAATGCAGAAATAA)$ MASNSSSCPTPGGGHLNGYPVPPYAFFFPPMLGGLSPPGALTTLQHQLPVSGYSTPSPA|taictqtrcqnnqgsprvtgpktfrytsrrttshif* 06BR003 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 6 15 1 24 29 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1) CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGC(CTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 06BR003 ENSG00000078114.18 ENSG00000267678.1 -/- -/- chr10:20896958 chr17:60562158 CDS/splice-site exon translocation 9 11 0 86 21 high out-of-frame . LIM_domain(100%),Nebulin_repeat(100%)| . . ENSG00000078114.18 ENSG00000267678.1 ENST00000377122.8 ENST00000589465.1 upstream downstream . GTCTTCTATAAGCCTGTTATTGAAGACTTAAGCATGGAATTGGCCAGAAAATGCACGGAACTCATTAGCGAT|AGGTCTTGAAACTGAACAGAACATCAATATTTCACAGCCCTTTTGGATTTCTTGATTTCCATACAATCCTGCTGGATGAATATTAAGAGCGGCTTTTCGTGGGAGGCAGGGACCTTGCGTATTCCCTCAGCTTGGAGAGAATCAGTGAC$ VFYKPVIEDLSMELARKCTELISD|rs* 06BR003 ENSG00000213958.2(12786),ENSG00000150722.10(10604) ENSG00000150722.10 ./+ +/+ chr2:181975264 chr2:182061442 intergenic CDS/splice-site deletion/read-through 10 8 0 51 69 high . . . . . . ENSG00000150722.10 . ENST00000409702.1 downstream upstream mismappers(2),mismatches(1) GTACTCCTTTTGGCCTAAGGACACAGTGAAAAATGTACCGAGACCTTGGAGAGCCACGAACCAAGAAACTTCAGAAACCTCTGATATCTGATCAAGAGTTAAGAGACGTCAGAATCATCACAACTGACAAAAG___AATGTTTTCTCTCTTCAAGATTCTCTTTTGAAAGACATCTAAAAAG|AAATAGATGACAAGAGGGGGCCCAACACACAAGGGGAA___TTACAGAATGCATCCCCTAAGCAAAGGAAGCAGAGTGTGTACACACCACCCACCATAAAAG___GGGTTAAGCATCTGAAAGGCCAGAATGAATCAGCATTCCCTGAAGAAGAAGAAGGCACCAATGAAAGAGAGGAGCAGCGGGACCATTAATTACTGGTCTGCAGCAAGAAG(GCTTCTTGGAAATAACTGAACTATTAACTTTTCTGAGTATACCATGGAATTCCACTGCTTGACTTCCAGAAGCATCCTCCATCTCTGCACCCCACACTCATACAGTAGCTATGCACATCCTGGAAGTCTCCTTGACTGAACTTTAGAACTAA___GTGCAAAATGAGTTGATAACAACCAGAAGTTGACTTGTTAGTGCTGTGCTTCTACTCGAGCTTGGAAAAATCCCAACACAAAACAAACACCACCTCCGATTCCATCATGATGCCACGTTGCTTTCTACTGGATTACCTCCTGAAGCACTTTAGATATTTTATACATAAGTATTGACATGTTTTTCAGAAGCTGTTTCTTCACTTATTGCTTTTTTCTAATAATTTTTATTACACCATTTGCCAAGTCCTTCCCTTTGGTTTTAGTTTATTCCTCTCTACAACTAAAAAAGGGATCTTGAGTTTAGGTACATTTTAAGTGATTCATTTTTAGTTTTTCTAATTCTGGAATCTGAGCCTTCTCTTACAACAGGGAGTCTTTCAAAAACATTTTTTTGTTTCTTTTTCAAATTCCACTGTGTTTATTTATTGCCTTGTTTCTTTTTCAAATTCCATTGGTCTTGATTTAATTTAGTTCCACAGATTTTACTGATAGTCTACTACCTGCCAACTACTGAATTATGCAGCAGACTTATAAAAATAAAAAGGCTATTTTATTGTTATTGCC)$ . 06BR003 ENSG00000188825.14 ENSG00000226364.1(4459),ENSG00000227011.4(81473) -/- ./- chr17:43356392 chr17:52904047 exon/splice-site intergenic duplication 4 9 0 136 16 high . . . . . ENSG00000188825.14 . ENST00000658096.1 . upstream downstream mismappers(3) ^(GGAAACCCCGGAACTAGAACTGGT___ATCTCTTCAACTACCTGTGAAAACTGATGTGATGAAAAGGGGAATTTGAAGGAGCCATTCCAGAAGACAGGGCGAAAACTGAAGTGCAATCAGGGCCAAGAAAAACAGAAATAGCAGGACCTGGAGTTGCATAGGTTGAATAGTTGAATAGGCTGCTCTCCTCAGCTGGCAGGAAACCTGGCAGCCTCCTGGTGCCCAAGGACTGAAAACCTTAGAAGCACCTGGAGTTGGCAGCCTTGGCATGGTCAGGTTGGCACCTCTGGAGGTGCCCAGGCTTCCCTGGCAGCATTGTGAGCAGTGGATGGTGTTGAAGGGCAGCCAGAGGAGGAATGGAACACATGCTCCTTGCTAACCACACGGACAAGGCCACGTTCACAGGTACACAAAG___GCAACGCAGTTGCTCAGGTGCTTCGGTATCACAGCCAAGACCCCTTCGGGGGAAGCTAGTCGGATACTGGGACCCACATTCCAGACTACTGAGCCGCGGTCGCGCCCTCGGCTCCGTTTCTGCTCCCTCCACCCCACGAG___GACGGGGGTGGAAGGCCACCTTCGATGGGTGCATCCTCCACGATGACCTGCTAACAAAGGTGCATGGATTTCAGAGTCTGATTGGCCTACAACAGCATTTGGCTTGTGGAGACAGTGGTTCCCTGATGAAAAACTGCCATGAT___)CAGCCATCTGCACCCAAACCAGATGCCAAAATAACCAGGGAAGCCCAAGAGTGACGGGGCCCAAGACCTTCCGCTACACCTCCCGTCGGACAACTAGCCATATCTTCTGAGAAGCCTCAGATAACCCTTGACATGACAG|ATGGAGTCTCACTCTGACACCCAGCCTGGAGTGCAACAGCACTATCTAAGCTCACTGCAACATCCACCTCCCAGGTTCAAGTGAATCTCGTGCCTCAGCCTCCCGAGTGGCTGGGATTACAGGCATGCACCACCAcACCCAACTAATTTTTGTACTTTTGGTAGGGACAGGGTTTCACCATGTTG . 06BR003 ENSG00000154229.12 ENSG00000175906.5 +/+ +/+ chr17:66786974 chr17:43399661 CDS/splice-site 5'UTR/splice-site duplication 2 9 1 163 39 high out-of-frame . C2_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_domain(100%)|ADP-ribosylation_factor_family(100%) . . ENSG00000154229.12 ENSG00000175906.5 ENST00000413366.8 ENST00000320033.5 downstream upstream . ^(GTCAGTGAGCCTGGGGCCAGCGGGCGAGCCAGCGGCTCCGGCTCCCGCTCCCGCTCCGCGCAGCACCAGCCCGACTCTCCCCGGCCCCCGCCGCGCCCCCTCGCCGCGACCTCGGCCACCGGCCCGCGCCCCGCGCCCGGGGTCGCCCCGAGCCCGCACCTCTCCCCCGCCGCCCCCGCCCACCCGGCCCTCCGCGGCCGCAGCTCCCCGGCGGAGGCAAGAGGTGGTTGGGGGGGACCATGGCTGACGTTTTCCCGGGCAACGACTCCACGGCGTCTCAGGACGTGGCCAACCGCTTCGCCCGCAAAGGGGCGCTGAGGCAGAAGAACGTGCACGAGGTGAAGGACCACAAATTCATCGCGCGCTTCTTCAAGCAGCCCACCTTCTGCAGCCACTGCACCGACTTCATCTG___GGGGTTTGGGAAACAAGGCTTCCAGTGCCAAG___TTTGCTGTTTTGTGGTCCACAAGAGGTGCCATGAATTTGTTACTTTTTCTTGTCCGGGTGCGGATAAGGGACCCGACACTGAT___GACCCCAGGAGCAAGCACAAGTTCAAAATCCACACTTACGGAAGCCCCACCTTCTGCGATCACTGTGGGTCACTGCTCTATGGACTTATCCATCAAGGGATGAAATGTGACA___CCTGCGATATGAACGTTCACAAGCAATGCGTCATCAATGTCCCCAGCCTCTGCGGAATGGATCACACTGAGAAGAGGGGGCGGATTTACCTAAAGGCTGAGGTTGCTGATGAAAAGCTCCATGTCACAG___TACGAGATGCAAAAAATCTAATCCCTATGGATCCAAACGGGCTTTCAGATCCTTATGTGAAGCTGAAACTTATTCCTGATCCCAAGAATGAAAGCAAGCAAAAAACCAAAACCATCCGCTCCACACTAAATCCGCAGTGGAATGAGTCCTTTACATT___CAAATTGAAACCTTCAGACAAAGACCGACGACTGTCTGTAGAAATCTGGGACTGGGATCGAACAACAAGGAATGACTTCATGGGATCCCTTTCCTTTGGAGTTTCGGAGCTGATGAAGATGCCGGCCAGTGGATG___GTACAAGTTGCTTAACCAAGAAGAAGGTGAGTACTACAACGTACCCATTCCGGAAGGGGACGAGGAAGGAAACATGGAACTCAGGCAGAAATTCGAG___AAAGCCAAACTTGGCCCTGCTGGCAACAAAGTCATCAGTCCCTCTGAAGACAGGAAACAACCTTCCAACAACCTTGACCGAGTGAAACTCACGGACTTCAATTTCCTCATGGTGTTGGGAAAGGGGAGTTTTGGAAAG___GTGATGCTTGCCGACAGGAAGGGCACAGAAGAACTGTATGCAATCAAAATCCTGAAGAAGGATGTGGTGATTCAGGATGATGACGTGGAGTGCACCATGGTAGAAAAGCGAGTCTTGGCCCTGCTTGACAAACCCCCGTTCTTGACGCAGCTGCACTCCTGCTTCCAGACAGTG___GATCGGCTGTACTTCGTCATGGAATATGTCAACGGTGGGGACCTCATGTACCACATTCAGCAAGTAGGAAAATTTAAGGAACCACAAGCAGT___ATTCTATGCGGCAGAGATTTCCATCGGATTGTTCTTTCTTCATAAAAGAGGAATCATTTATAG___GGATCTGAAGTTAGATAACGTCATGTTGGATTCAGAAGGACATATCAAAATTGCTGACTTTGGGATGTGCAAGGAACACATGATGGATGGAGTCACGACCAGGACCTTCTGTGGGACTCCAGATTATATCGCCCCAGAG___)ATAATCGCTTATCAGCCGTATGGAAAATCTGTGGACTGGTGGGCCTATGGCGTCCTGTTGTATGAAATGCTTGCCGGGCAG___CCTCCATTTGATGGTGAAGATGAAGACGAGCTATTTCAGTCTATCATGGAGCACAACGTTTCCTATCCAAAATCCTTGTCCAAGGAGGCTGTTTCTaTCTGCAAAGGA|ATAACCCAGCTGTGCTCCCTGGAACCTTCAATTTCAAGGCCTCCCTGCCTCTACTAGGCGCCTTAGCTCACTATGGGGAACCACTTGACTGAGATGGCGCCCACTGCCTCCTCCTTCTTGCCCCACTTCCAAGCCCTGCATGTCGTGGTCATTGGGCTGGACTCTGCTGGAAAGACCTCCCTCCTTTACCGCCTCAAGTTCAAGGAGTTTGTCCAGAGTGTCCCCACCAAAGGCTTCAACACCGAGAAGATCCGGGTGCCCCTCGGGGGATCGCGTGGCATCACCTTCCAAGTGTGG(GACGTCGGGGGGCAGGAGAAGCTGCGACCACTGTGGCGCTCTTATACCCGCCGGACAGACGGTCTAGTGTTTGTGGTGGACGCTGCGGAGGCTGAGCGGCTGGAGGAAGCCAAGGTGGAGTTGCACCGAATCAGCCGGGCCTCGGACAACCAGGGCGTGCCAGTGCTGGTGCTGGCCAACAAGCAGGACCAGCCCGGGGCACTGAGCGCTGCTGAGGTGGAGAAGAGGCTGGCAGTCCGAGAGCTAGCAGCCGCCACTCTCACTCATGTGCAAGGCTGCAGCGCTGTGGACGGTCTGGGCCTGCAGCAGGGCCTTGAGCGCCTCTATGAGATGATCCTCAAGAGGAAGAAGGCAGCTCGGGGTGGCAAGAAGAGACGGTGACCCAAGCCCCCCCTCCCTTTCCTCCCACCTAGTAGGGGTCTGCACACTTGGACAGCAGGGTGGGACCAGCCTGTGACCTCTCAGTCAGACTGGGGTGCAGGACCTGTCCACCTCAATGAAGGAGAGAGGAGCATGGGGTGTCCCGTTTTGGTGCCACACTGGGGTGGGGATGGGAGATGGGATGTCTTTGCATATCTCTCTCATCCTCTCTGGAGAAGTGGGCGCTGCAGGACTGTGGAGACGTAAATGTAAACTGTGACTCTACCTCGACCCTGTTTCTTATTTTTCTTCTCTGGCTAAAAATTTTTAATTGGATGTGTTTGGGGGCGGGGGGATGGAAGTGACTTGGAGAATGTGTTTGGGATGAAATAACTATCTCCCCTTCCTCTGTCCCCCAACTGGGGAGTCTCCCCAGGCTGCTTTTCTAGGAATACCAGTCACATAGTTTTTATTTTTGTGTCTGTGAAAGTGCCAAGAACCCCTCCCCACATTTGTAGATCCATGACCCTTTTTATAAGCTGTGTGTGTCCTCTGTATTATTGTTATTAACTATTTTTTAGCATTTGCCTGTAAGTTATTAAAGACTGATAACTGTAGCTCTTACCTTGGTCTGGGGCATTTTCCTCTCCTTATCTTGCCCCAGAGACAATTCAAGATTTCTATATGGGGTTGTGGCGCAGGGGGAGGGAGATTTATCTTGAAGCTGAATTTGCAAAGCAAGCACTTATAAAAATTAGATTGTGTGTTACGGGATGGCTTGTGAAAATTATAGGGGGGAGTGGAAAACCCCTCAAGCTAT)$ MADVFPGNDSTASQDVANRFARKGALRQKNVHEVKDHKFIARFFKQPTFCSHCTDFIWGFGKQGFQCQVCCFVVHKRCHEFVTFSCPGADKGPDTDDPRSKHKFKIHTYGSPTFCDHCGSLLYGLIHQGMKCDTCDMNVHKQCVINVPSLCGMDHTEKRGRIYLKAEVADEKLHVTVRDAKNLIPMDPNGLSDPYVKLKLIPDPKNESKQKTKTIRSTLNPQWNESFTFKLKPSDKDRRLSVEIWDWDRTTRNDFMGSLSFGVSELMKMPASGWYKLLNQEEGEYYNVPIPEGDEEGNMELRQKFEKAKLGPAGNKVISPSEDRKQPSNNLDRVKLTDFNFLMVLGKGSFGKVMLADRKGTEELYAIKILKKDVVIQDDDVECTMVEKRVLALLDKPPFLTQLHSCFQTVDRLYFVMEYVNGGDLMYHIQQVGKFKEPQAVFYAAEISIGLFFLHKRGIIYRDLKLDNVMLDSEGHIKIADFGMCKEHMMDGVTTRTFCGTPDYIAPEIIAYQPYGKSVDWWAYGVLLYEMLAGQPPFDGEDEDELFQSIMEHNVSYPKSLSKEAVSiCKG|itqlcslepsisrppcly* 06BR003 ENSG00000228033.6(399204),ENSG00000251942.1(136743) ENSG00000228033.6 ./- -/- chr2:53333704 chr2:52910024 intergenic exon/splice-site deletion 3 8 0 14 16 high . . . . . . ENSG00000228033.6 . ENST00000668945.1 upstream downstream . CGTGAAGAAAGTGTCTGTTTCTCCTTTGCCTTCCGCCAGGATTGTAGGTTTCCTGAGGCCTCCCCAGCCTTTCAGAA|TTCTATCAGATTTCGCTTCAAAAATTTTGGACCTTTGTTACTAGGTACATAAACATCTGAG___GTGTTTATTGGAGCTCTTTGCCTAGAACTGATAATTGGATTCATGGTATTCTGGAGAACAAG(___GAAGAAAACTGAAGCCCAGAAAGCTTAATATATTACCCAAAGAGTTAGTCCACATTGAACTGGGAGTTAATCCTTGTCTGTCTGGCTGGAAAGCTTTTGCTCTGTATCTTGGATGAATAAACTAAACCTTAGGGAATCTTCCTAGAA___AAACCATTGTCTTCTGTGGGAAAAGAAGAGAGTATTTATGATACATCAAGCATCCACTACCTAGAAAATTATAGGGCTCCCATTTGCTTCTGCTGTGAAATGCCAAGATCACAAACATGACTTCAAGACCATCCATTATCCACCTGTAGATTGCTGTCAG___GAAACCATATAACGCCTCCTGTACGAGAAGTTAAATTACAACACAAAGATTGCTTGGTGAGCATGTGATCAAAACAGGGCAAGATGAAGACCTTTAGAGGCCACAAGCATTTTAGTGTGCCTCCCAACTTCCCTTATATTATTCAAAATATAAACAATAAAATCTACAAAGATGTGAAAGAAGTCCAACAAAA)$ . 06BR003 ENSG00000150995.19 ENSG00000286579.1 +/+ -/+ chr3:4806267 chr3:4272205 CDS/splice-site intron duplication/5'-5' 4 6 0 60 13 high out-of-frame . Inositol_1_4_5-trisphosphate/ryanodine_receptor(100%),Ion_transport_protein(100%),MIR_domain(100%),RIH_domain(100%),RyR_and_IP3R_Homology_associated(100%)| . . ENSG00000150995.19 ENSG00000286579.1 ENST00000302640.12 . downstream upstream . ^(GCAGTAACCATGTGGATGTGCTGCTGAAGCGTTTCCTCAAGCTCGCTGGGGTGGGAGGAGAGGAGGAGGAGGAGGTGGTGGTGGAGGAGGAGGCAGGGGGTGGAGAGAGAGAAAGCGCACGCCGAGAGGAGGTGTGGGTGTTCCGCTTCCATCCTAACGGAACGAGCTCCCTCTTCGCGGACATGGGATTACCCAGCGGCTGCTAACCCCTCTCCTCGCCCTGCTCCCCCAAACCGGCGTGGCTCCCCGGGCACCAAG___GAGCTGACTACAGAGGAGCAGGATTTGCACCCCTCGCTGGGCTTGCTTTGGCAACAGAGTGCCTGACCCAGGTCAG___GATTTTCAAGAAAGACATGTCTGACAAAATGTCTAGCTTCCTACATATTGGAGACATTTGTTCTCTGTACGCGGAGGGATCGACAAATGGATTTATTAGCACCTTGGG___CCTGGTTGATGATCGTTGTGTTGTACAGCCAGAAACCGGGGACCTTAACAATCCACCTAAGAAATTCAGAG___ACTGCCTCTTTAAGCTATGTCCCATGAACCGCTACTCTGCCCAAAAGCAGTTCTGGAAAGCCGCTAAGCCTGGGGCCAACAGCACCACAGACGCAGTGCTACTCAACAAACTGCAC___CACGCTGCAGACTTGGAAAAGAAGCAGAATGAGACAGAAAACAGGAAATTGCTGGGGACCGTAATCCAGTATGGCAATGTGATCCAG___CTCCTGCATTTGAAAAGTAATAAATACCTAACAGTGAATAAGAGGCTTCCTGCTCTGTTGGAGAAGAATGCCATGAGAGTCACATTGGACGAGGCTGGAAATGAAGGGTCCTGGTTTTATATTCAGCCATTCTACAAGCTGCGATCCATTGGAGACAGC___GTGGTCATAGGTGACAAGGTGGTTCTGAACCCCGTCAATGCTGGTCAGCCCCTACATGCTAGCAGCCATCAACTGGTAGATAACCCAGGCTGCAATGAG___GTCAATTCCGTCAACTGCAATACAAGCTGGAAAATAGTCCTTTTCATGAAATGGAGTGATAACAAAGACGACATATTAAAGGGG___GGTGACGTGGTGAGGCTGTTTCATGCTGAGCAGGAGAAGTTTCTCACCTGTGACGAACACAGGAAGAAGCAGCACGTCTTCCTGAGAACCACGGGCCGGCAGTCGGCCACATCTGCCACCAGTTCAAAAGCCCTGTGGGAGGTGGAG___GTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAG___GTGGACCCTGATCAGGACGCCTCTCGAAGTAGGTTGCGGAATGCCCAAGAAAAGATGGTATACTCCCTGGTCTCTGTGCCTGAAGGCAATGACATCTCCTCCATTTTCGAGCTAGATCCCACCACTCTGCGTGGAGGTGACAGCCTTGTCCCAAG___GAACTCTTATGTTCGGCTCAGACACCTATGTACTAATACCTGGGTTCACAGCACAAATATTCCTATTGACAAGGAAGAAGAAAAGCCCGTGATGCTGAAA___ATTGGCACCTCTCCTGTGAAGGAGGATAAGGAAGCATTTGCCATAGTTCCGGTTTCTCCTGCTGAAGTTCGGGACCTGGACTTTGCCAATGATGCCAGCAAGGTGCTGGGCTCCATTGCTGGGAAGCTAGAGAAGGGCACCATCACCCAGAATGAAAGGAG___GTCTGTAACCAAGCTGCTAGAAGATTTGGTTTACTTCGTCACTGGTGGAACTAATTCTGGTCAAGATGTTCTCGAAGTTGTCTTCTCCAAGCCCAACAGAGAACGGCAGAAACTGATGAGAGAACAGAATATTCTCAAGCAG___ATCTTCAAGTTGTTACAAGCCCCATTCACAGACTGCGGTGATGGCCCAATGCTTCGGCTGGAAGAGCTCGGGGACCAGCGGCACGCTCCTTTCAGACACATCTGCCGGCTCTGCTACAGGGTGCTGAGACACTCGCAGCAAGACTACAGGAAGAACCAG___GAGTATATAGCCAAGCAGTTTGGCTTCATGCAGAAGCAGATTGGCTATGATGTGTTGGCTGAAGACACTATCACTGCCCTGCTCCACAATAATCGGAAACTCCTGGAAAAACACATTACCGCGGCAGAGATTGACACATTTGTCAGCCTGGTGCGAAAGAACAGGGAGCCCAG___ATTCTTAGATTACCTCTCCGACCTCTGTGTCTCCATGAACAAATCAATTCCAGTGACCCAGGAACTGATATGTAAAGCTGTGCTGAACCCCACCAACGCTGACATCCTGATTGAGACCAA___GTTGGTTCTTTCTCGTTTTGAATTTGAAGGTGTCTCTTCCACTGGAGAGAATGCTCTGGAGGCAGGAGAAGACGAGGAAGAGGTGTGGCTGTTTTGGAGGGACAGCAACAAAGAGATTCGCAGCAAGAGTGTGAGGGAATTGGCTCAGGATGCTAAAGAAGGGCAGAAGGAGGACCGAGACGTTCTCAGCTACTACAG___ATATCAGCTGAACCTCTTTGCGAGGATGTGTCTGGACCGCCAATACCTGGCCATCAACGAAATCTCAGGCCAGCTGGATGTCGATCTCATTCTCCGCTGCATGTCTGACGAGAACCTGCCCTATGACCTCAGGGCGTCCTTCTGCCGCCTCATGCTTCACATGCATGTGGACCGAGATCCCCAGGAACAAGTCACCCCCGTGAAATATGCCCGCCTCTGGTCGGAGATTCCCTCGGAGATCGCCATTGACGA___CTATGATAGTAGTGGAGCTTCCAAAGATGAAATTAAGGAGAGATTTGCTCAGACCATGGAGTTTGTGGAGGAGTATTTAAGAGATGTGGTTTGTCAGAGGTTCCCTTTCTCTGATAAAGAGAAGAATAAGCTTACGTTTGAG___GTTGTAAATTTAGCTAGGAATCTCATATACTTTGGTTTCTACAACTTCTCTGACCTTCTACGATTAACTAAGATCCTTCTGGCCATATTGGACTGTGTACATGTGACAACAATCTTCCCCATTAGCAAGATGGCGAAAGGAGAAGAGAATAAAGGTAACAATGATGTGGAGAAGCTGAAGA___GCAGTAACGTGATGAGATCTATTCATGGCGTGGGAGAGCTGATGACCCAGGTGGTGCTCCGGGGAGGAGGCTTTTTGCCCATGACTCCCATGGCTGCTGCCCCTGAAGGCAATGTGAAGCAGGCAGAGCCTGAGAAGGAGGACATCATGGTCATGGACACCAAGCTGAAGATCATTGAGATACTCCAG___TTTATTTTGAATGTGAGGTTGGATTATAGGATCTCCTGCCTCCTGTGTATATTTAAGCGAGAGTTTGATGAAAGCAATTCCCAGACTTCAGAAACATCCTCCGGAAACAGCAGCCAAGAAGGGCCAAGTAATGTACCAG___GTGCTCTTGACTTTGAACACATTGAAGAACAAGCAGAAGGCATCTTTGGAGGAAG___TGAGGAGAACACCCCACTGGACTTGGATGACCACGGCGGCAGAACCTTTCTCCGTGTCCTGCTCCACTTGACGATGCATGACTACCCACCCCTGGTGTCAGGGGCCCTGCAGCTCCTCTTCCGGCACTTCAGCCAGAGGCAGGAGGTGCTCCAGGCCTTCAAACAG___GTTCAACTGCTGGTTACCAGCCAAGATGTGGACAACTACAAACAGATCAAACAAGACTTGGATCAACTGAGGTCCATCGTGGAAAAGTCAGAGCTTTGGGTGTACAAAGGGCAGGGCCCCGATGAGACTATGGATGGTGCATCTGGAGAAAATGAACATAAGAAAACGGAG___GAGGGAAATAACAAGCCACAAAAGCATGAAAGCACCAGCAGCTACAACTACAGAGTGGTCAAAGAG___ATTTTGATTCGGCTTAGCAAACTCTGTGTTCAAGAGAGTGCCTCAGTGAGAAAGAGCAGGAAGCAGCAACAGCGTCTGCTCCGGAACATGGGCGCGCACGCCGTGGTGCTGGAGCTGCTGCAGATTCCCTATGAGAAG___GCCGAAGATACCAAGATGCAAGAGATAATGAGGTTGGCTCATGAATTTTTGCAGAATTTCTGCGCAGGCAACCAGCAGAATCAAGCTTTGCTACATAAACACATAAACCTGTTTCTCAACCCAGGG___ATCCTGGAGGCAGTAACCATGCAGCACATCTTCATGAACAATTTCCAGCTTTGCAGTGAGATCAACGAGAGAGTTGTTCAGCACTTCGTTCACTGCATAGAGACTCACGGTCGGAATGTCCAGTATATAAAGTTCTTACAGACAATTGTCAAGGCAGAAGGGAAATTTATTAAAAAATGCCAAGACATGGTTATGGCCGAG___CTGGTCAATTCGGGAGAGGATGTCCTCGTGTTCTACAACGACAGAGCCTCTTTCCAGACTCTGATCCAGATGATGCGGTCAGAACGGGATCGGATGGATGAGAACAGCCCTCTCATGTACCACATCCACTTGGTCGAGCTCCTGGCTGTGTGCACGGAGGGTAAGAATGTCTACACAGAGATCAAGTGCAACTCCCTGCTCCCGCTGGATGACATCGTTCGCGTGGTGACCCACGAGGACTGCATCCCTGAG___GTTAAAATTGCATACATTAACTTCCTGAATCACTGCTATGTGGATACAGAGGTGGAAATGAAGGAGATTTATACCAGCAATCACATGTGGAAATTGTTTGAGAATTTCCTTGTAGACATCTGCAGG___GCCTGTAACAACACTAGTGACAGGAAACATGCAGACTCGATTTTGGAGAAGTATGTCACCGAAATCGTCATGAGTATTGTTACTACTTTCTTCAGCTCTCCCTTCTCAGACCAGAGTACGACTTTGCAG___ACTCGCCAGCCTGTCTTTGTGCAACTGCTGCAAGGCGTGTTCAGGGTTTACCACTGCAACTGGTTAATGCCAAGCCAAAAAGCCTCCGTGGAGAGCTGTATTCGGGTGCTGTCTGATGTAG___CCAAGAGCCGGGCCATTGCCATTCCCGTGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAG___GACATCGTCTCCGCGCTGGAGGACCGTCTCAGGCCCCTGGTGCAGGCAGAGTTATCTGTGCTCGTGGATGTTCTCCACAGACCCGAGCTGCTTTTCCCAGAGAACACAGACGCCAGAAGGAAATGTGAAAGTGGCGGTTTCATTTGCAA___GTTAATAAAGCATACAAAACAGCTGCTAGAAGAAAATGAAGAGAAGCTCTGCATTAAGGTCCTACAGACCCTGAGGGAAATGATGACCAAAGATAGAGGCTATGGAGAAAAG___CTAATTTCCATTGATGAATTGGATAATGCTGAG___CTTCCTCCAGCTCCGGATTCTGAGAACGCCACTGAG___GAGCTTGAACCAAGTCCACCCCTGCGGCAGCTGGAAGACCATAAAAGG___GGTGAGGCGCTCAGGCAAGTTCTGGTCAACCGTTACTATGGAAACGTCAGACCTTCGGGACGAAGAGAGAGCCTTACCAGCTTTGGCAATGGCCCACTGTCAGCAGGAGGACCCGGCAAGCCCGGGGGAGGAG___GGGGAGGTTCCGGATCCAGCTCTATGAGCAGGGGTGAGATGAGTCTGGCCGAGGTTCAGTGTCACCTTGACAAGGAGGGGGCTTCCAATCTAGTTATCGACCTCATCATGAACGCATCCAGTGACCGAGTGTTCCATGAAAGCATTCTCCTGGCCATTGCCCTTCTGGAAGGAGGCAACACCACCATCCAG___CACTCCTTTTTCTGTCGCTTGACAGAAGATAAGAAGTCAGAGAAATTCTTTAAGGTGTTTTATGACCGGATGAAGGTGGCCCAGCAAGAAATCAAAGCAACAGTGACAGTGAACACCAGTGACTTGGGAAATAAAAAGAAAGACGATGAGGTAGACAGGGATGCCCCATCACGGAAAAAAG___CTAAAGAGCCCACAACACAGATAACAGAAGAGGTCCGGGATCAGCTCCTGGAGGCCTCCGCTGCCACCAGGAAAGCCTTCACCACTTTCAGGAGGGAGGCTGATCCCGACGACCACTACCAGCCTGGAGAGGGCACCCAGGCCACTGCCGACAAGGCCAAGGACGACCTGGAGATGAGCGCGGTCATCACCATCATGCAGCCCATCCTCCGCTTCCTTCAGCTCCTGTGTGAAAACCACAACCGAGACCTGCAG___AACTTCCTCCGTTGCCAAAATAACAAGACCAACTACAATTTGGTATGTGAGACCCTGCAGTTTCTGGACTGTATTTGTGGAAGCACAACTGGAGGCCTTGGTCTTCTGGGCTTGTATATAAATGAAAAGAATGTAGCGCTTATCAACCAAACCCTGGAAAGTCTGACCGAATACTGTCAAGGACCTTGCCATGAGAACCAG___AACTGCATAGCCACCCATGAATCCAATGGCATTGACATCATCACAGCCCTGATCCTCAATGATATCAATCCTTTGGGAAAGAAGAGGATGGACCTTGTGTTAGAACTGAAG___AACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTG___GTGGAAGTGATCAAGAAAGCCTACATGCAAGGTGAAGTGGAATTTGAGGATGGAGAAAACGGTGAGGATGGGGCGGCGTCCCCCAGGAACGTGGGGCACAACATCTACATATTAGCCCATCAG___TTGGCTCGGCATAACAAAGAACTTCAGAGCATGCTGAAACCTGGTGGCCAAGTGGACGGAGATGAAGCCCTGGAGTTTTATGCCAAGCACACGGCGCAGATAGAG___ATTGTCAGATTAGACCGAACAATGGAACAGATAGTCTTTCCCGTGCCCAGCATATGTGAATTCCTAACCAAGGAGTCAAAACTACGAATTTACTATACTACAGAGAGAGACGAACAAGGCAGCAAAATCAATGATTTCTTTCTGCGGTCTGAAGACCTCTTCAATGAAATGAATTGGCAGAAGAAACTGAGAG___CCCAGCCCGTGTTGTACTGGTGTGCCCGCAACATGTCTTTCTGGAGCAGCATTTCGTTTAACCTGGCCGTCCTGATGAACCTGCTGGTGGCGTTTTTCTACCCGTTTAAGGGAGTCCGAGGAG___GAACCCTGGAGCCCCACTGGTCGGGACTCCTGTGGACAGCCATGCTCATCTCTCTGGCCATCGTCATTGCCCTCCCCAAGCCCCATGGCATCCGGGCCTTAATTGCCTCCACAATTCTAC)GACTGATATTTTCAGTCGGGTTACAACCCACGTTGTTTCTTCTGGGCGCTTTCAAT___GTATGCAATAAAATCATCTTTCTAATGAGCTTTGTGGGCAACTGTGGGACATTCACAAGAGGCTACCGAGCCATGGTTCTGGATGTTGAGTTCCTCTATCATTTGTTGTATCTGGTGATCTGTGCCATGGGGCTCTTTGTCCATGAATTCTTCTACAGTCTGCTG|GTTGGTTTCCTGAGAGATGAACAATACTGTGCAGGAAACATTAGGAAAAGCTCGGGATCAACCCTTTCTCTGGCGGACTGGAGGAAAACGCAGAGGCTGGGCTGTAATGTGGTTCCAACAAGGGCTTTAATCGACCCGACAGAGAATTCTGAAACTGGCTGGACCTTCGGAATTGTTCTGAGTTGGGACAAGAAGACTAGGCCTTCACATCCTCACATCAAC MSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKAAKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQPFYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDEHRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDQDASRSRLRNAQEKMVYSLVSVPEGNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPVSPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQAPFTDCGDGPMLRLEELGDQRHAPFRHICRLCYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLHNNRKLLEKHITAAEIDTFVSLVRKNREPRFLDYLSDLCVSMNKSIPVTQELICKAVLNPTNADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLFWRDSNKEIRSKSVRELAQDAKEGQKEDRDVLSYYRYQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRASFCRLMLHMHVDRDPQEQVTPVKYARLWSEIPSEIAIDDYDSSGASKDEIKERFAQTMEFVEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDLLRLTKILLAILDCVHVTTIFPISKMAKGEENKGNNDVEKLKSSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAAPEGNVKQAEPEKEDIMVMDTKLKIIEILQFILNVRLDYRISCLLCIFKREFDESNSQTSETSSGNSSQEGPSNVPGALDFEHIEEQAEGIFGGSEENTPLDLDDHGGRTFLRVLLHLTMHDYPPLVSGALQLLFRHFSQRQEVLQAFKQVQLLVTSQDVDNYKQIKQDLDQLRSIVEKSELWVYKGQGPDETMDGASGENEHKKTEEGNNKPQKHESTSSYNYRVVKEILIRLSKLCVQESASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNFCAGNQQNQALLHKHINLFLNPGILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIKFLQTIVKAEGKFIKKCQDMVMAELVNSGEDVLVFYNDRASFQTLIQMMRSERDRMDENSPLMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYINFLNHCYVDTEVEMKEIYTSNHMWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFFSSPFSDQSTTLQTRQPVFVQLLQGVFRVYHCNWLMPSQKASVESCIRVLSDVAKSRAIAIPVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVLAASRDYRNIIERLQDIVSALEDRLRPLVQAELSVLVDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKLCIKVLQTLREMMTKDRGYGEKLISIDELDNAELPPAPDSENATEELEPSPPLRQLEDHKRGEALRQVLVNRYYGNVRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSLAEVQCHLDKEGASNLVIDLIMNASSDRVFHESILLAIALLEGGNTTIQHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFTTFRREADPDDHYQPGEGTQATADKAKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVALINQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNASKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNVGHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPVPSICEFLTKESKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMNLLVAFFYPFKGVRGGTLEPHWSGLLWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEFLYHLLYLVICAMGLFVHEFFYSLL|vgflrdeqycagnirkssgstlsladwrktqrlgcnvvptralidptensetgwtfgivlswdkktrpshphi 06BR003 ENSG00000108799.13 ENSG00000170832.13 -/- -/- chr17:42709846 chr17:60255258 CDS/splice-site CDS/splice-site duplication 1 6 0 58 44 high out-of-frame . WD_repeat_binding_protein_EZH2(100%)|DUSP_domain(100%),Ubiquitin-like_domain(100%),Ubiquitin_carboxyl-terminal_hydrolase(100%) . . ENSG00000108799.13 ENSG00000170832.13 ENST00000415827.6 ENST00000300896.9 upstream downstream . ^(CTAGCAGCGGGACCCGCGGCTCGGGATGGAGG___CTGGACACCTGTTCTGCTGTTGTGTCCTGCCATTCTCCTGAAGAACAGAGGCACACTGTAAAACCCAACACTTCCCCTTGCATTCTATAAG___ATTACAGCAAGATGGAAATACCAAATCCCCCTACCTCCAAATGTATCACTTACTGGAAAAGAAAAGTGAAATCTGAATACATGCGACTTCGACAACTTAAACGGCTTCAGGCAAATATGGGTGCAAAG___GCTTTGTATGTGGCAAATTTTGCAAAGGTTCAAGAAAAAACCCAGATCCTCAATGAAGAATGGAAGAAGCTTCGTGTCCAACCTGTTCAGTCAATGAAGCCT___TGTACCATAGAGAGCATTTTCCCGGGATTTGCAAGCCAACATATGTTAATGAGGTCACTGAACACAGTTGCATTGGTTCCCATCATGTATTCCTGGTCCCCTCTCCAACAGAACTTTATG___GTAGAAGATGAGACGGTTTTGTGCAATATTCCCTACATGGGAGATGAAGTGAAAGAAGAAGATGAGACTTTTATTGAGGAGCTGATCAATAACTATGATGGGAAAGTCCATGGTGAAGAAG___AGATGATCCCTGGATCCGTTCTGATTAGTGATGCTGTTTTTCTGGAGTTGGTCGATGCCCTGAATCAGTACTCAGATGAGGAGGAGGAAGGGCACAATGACACCTCAGATGGAAAGCAGGATGACAGCAAAGAAGATCTGCCAGTAACAAGAAAGAGAAAGCGACATGCTATTGAAG___GCAACAAAAAGAGTTCCAAGAAACAGTTCCCAAATGACATGATCTTCAGTGCAATTGCCTCAATGTTCCCTGAGAATGGTGTCCCAGATGACATGAAGGAGAG___GTATCGAGAACTAACAGAGATGTCAGACCCCAATGCACTTCCCCCTCAGTGCACACCCAACATCGATGGCCCCAATGCCAAGTCTGTGCAGCGGGAGCAATCTCTGCACTCCTTCCACACACTTTTTTGCCGGCGCTGCTTTAAATACGACTGCTTCCTTCACC___CTTTTCATGCCACCCCTAATGTATATAAACGCAAGAATAAAGAAATCAAGATTGAACCAGAACCATGTGGCACAGACTGCTTCCTTTTGCTG___GAAGGAGCAAAGGAGTATGCCATGCTCCACAACCCCCGCTCCAAGTGCTCTGGTCGTCGCCGGAGAAGGCACCACATAGTCAGTGCTTCCTGCTCCAATGCCTCAGCCTCTGCTGTGGCTGAGACTAAAGAAGGAGACAGTGACAGGGACACAGGCAATGACTGGGCCTCCAGTTCTTCAG___AGGCTAACTCTCGCTGTCAGACTCCCACAAAACAGAAGGCTAGTCCAGCCCCACCTCAACTCTGCGTAGTGGAAGCACCCTCGGAGCCTGTGGAATGGACTGGGGCTGAAGAATCTCTTTTTCGAGTCTTCCATGGCACCTACTT)CAACAACTTCTGTTCAATAGCCAGGCTTCTGGGGACCAAGACGTGCAAGCAG___GTCTTTCAGTTTGCAGTCAAAGAATCACTTATCCTGAAGCTGCCAACAGATGAGCTCATGAACCCCTCACAGAAGAAGAAAAGAAAGCACAG|ATGGGTCATCTTACTCTGGAAGACTATCAGATCTGGAGTGTGAAAAATGTTCTTGCCAATGAGTTTTTGAACCTCCTTTTCCAG___GTGTGTCACATAGTTCTGGGGTTAAGACCAGCTACTCCGGAAGAAGAAGGACAAATTATTAG(___AGGATGGTTAGAACGAGAGAGCAGGTATGGTCTGCAAGCAGGACACAACTGGTTTATCATCTCCATGCAGTGGTGGCAACAGTGGAAAGAATATGTCAAATAC___GATGCCAACCCTGTGGTAATTGAGCCATCATCTGTTTTGAATGGAGGAAAATACTCATTTGGAACTGCAGCCCATCCTATGGAGCAGGTCGAAGATAGAATTGGAAGCAGCCTCAGTTACGTGAATACTACAGAAGAGAAATTTTCAGACAACATTTCTACTGCATCTGAAGCCTCAGAAACTGCTGGCAGCG___GCTTTCTGTATTCTGCCACACCAGGGGCAGATGTTTGCTTTGCTCGACAACATAACACTTCTGACAATAACAACCAGTGTTTGCTGGGAGCCAATGGGAATATTTTGTTGCACCTTAACCCTCAGAAACCAGGGGCTATTGATAATCAGCCATTAGTAACTCAAGAACCAGTAAAG___GCTACATCATTAACACTAGAAGGAGGACGATTAAAACGAACTCCACAGCTGATTCATGGAAGAGACTATGAAATGGTCCCAGAACCTGTGTGGAGAGCACTTTATCACTGGTATGGAGCAAACCTGGCCTTACCTAGACCA___GTTATCAAGAACAGCAAGACAGACATCCCAGAGCTGGAATTATTTCCCCGCTATCTTCTCTTCCTGAGACAGCAGCCTGCCACTCGGACACAGCAGTCTAACATCTGGGTGAATATGG___GAAATGTACCTTCTCCGAATGCACCTTTAAAGCGGGTATTAGCCTATACAGGCTGTTTTAGTCGAATGCAGACCATCAAGGAAATTCACGAATATCTATCTCAAAGGCTGCGCATTAAAGAGGAAGATATGCGCCTGTGGCTATACAACAGTGAG___AACTACCTTACTCTTCTGGATGATGAGGATCATAAATTGGAATATTTGAAAATCCAGGATGAACAACACCTGGTAATTGAAG___TTCGCAACAAAGATATGAGTTGGCCTGAGGAGATGTCTTTTATAGCAAATAGTAGTAAAATAGATAGACACAAGG___TTCCCACAGAAAAGGGAGCCACAGGTCTAAGCAATCTGGGAAACACATGCTTCATGAACTCAAGCATCCAGTGTGTTAGTAACACACAGCCACTGACACAGTATTTTATCTCAGGGAGACATCTTTATGAACTCAACAG___GACAAATCCCATTGGTATGAAGGGGCATATGGCTAAATGCTATGGTGATTTAGTGCAGGAACTTTGGAGTGGAACTCAGAAGAATGTTGCCCCATTAAAGCTTCGG___TGGACCATAGCAAAATATGCTCCCAGGTTTAATGGGTTTCAGCAACAGGACTCCCAAGAACTTCTGGCTTTTCTCTTGGATGGTCTTCATGAAGATCTTAATCGAGTCCATGAAAAGCCATATGTGGAACTGAAGGACAGTGATGGGCGACCAGACTGGGAAGTAGCTGCAGAG___GCCTGGGACAACCATCTAAGAAGAAATAGATCAATTGTTGTGGATTTGTTCCATGGGCAGCTAAGATCTCAAGTAAAATGCAAGACATGTGGGCATATAAGTGTCCGATTTGACCCTTTCAATTTTTTGTCTTTGCCACTACCAATGGACAGTTATATGCACTTAGAAATAACAG___TGATTAAGTTAGATGGTACTACCCCTGTACGGTATGGACTAAGACTGAATATGGATGAAAAGTACACAGGTTTAAAAAAACAGCTGAGTGATCTCTGTGGACTTAATTCAGAACAAATCCTTCTAGCAGAAGTACATGGTTCCAACATAAAG___AACTTTCCTCAGGACAACCAAAAAGTACGACTCTCAGTGAGTGGATTTTTGTGTGCATTTGAAATTCCTGTCCCTGTGTCTCCAATTTCAGCTTCTAGTCCAACACAGACAG___ATTTCTCCTCTTCGCCATCTACAAATGAAATGTTCACCCTAACTACCAATGGGGACCTACCCCGACCAATATTCATCCCCAATGGAATGCCAAACACTGTTGTGCCATGTGGAACTGAGAAGAACTTCACAAATGGAATGGTTAATGGTCACATGCCATCTCTTCCTGACAGCCCCTTTACAGGTTACATCATTGCAGTCCACCGAAAAATG___ATGAGGACAGAACTGTATTTCCTGTCATCTCAGAAGAATCGCCCCAGCCTCTTTGGAATGCCATTGATTGTTCCATGTACTGTGCATACCCGGAAGAAAGACCTATATGATGCGGTTTGGATTCAAGTATCCCGGTTAGCGAGCCCACTCCCACCTCAGGAAGCTAGTAATCATGCCCAGGATTG___TGACGACAGTATGGGCTATCAATATCCATTCACTCTACGAGTTGTGCAGAAAGATGGGAACTCCTGTGCTTGGTGCCCATGGTATAG___ATTTTGCAGAGGCTGTAAAATTGATTGTGGGGAAGACAGAGCTTTCATTGGAAATGCCTATATCGCTGTGGATTGGGATCCCACAGCCCTTCACCTTCGCTATCAAACATCCCAGGAAAGG___GTTGTAGATGAGCATGAGAGTGTGGAGCAGAGTCGGCGAGCGCAAGCCGAGCCCATCAACCTGGACAGCTGTCTCCGTGCTTTCACCAGTGAGGAAGAGCTAGGGGAAAATGAGATGTACTACTGTTCCAAGTGTAAGACCCACTGCTTAGCAACAAAGAAGCTGGATCTCTGGAGGCTTCCACCCATCCTG___ATTATTCACCTTAAGCGATTTCAATTTGTAAATGGTCGGTGGATAAAATCACAGAAAATTGTCAAATTTCCTCGGGAAAGTTTTGATCCAAGTGCTTTTTTGGTACCAAGAGACCCGGCTCTCTGCCAGCATAAACCACTCACACCCCAGGGGGATGAGCTCTCTGAGCCCAGGATTCTGGCAAGGGAGGTGAAGAAAGTGGATGCGCAGAGTTCGGCTGGGGAAGAGGACGTGCTCCTGAGCAAAAGCCCATCCTCACTCAGCGCTAACATCATCAGCAGCCCGAAAG___GTTCTCCTTCTTCATCAAGAAAAAGTGGAACCAGCTGTCCCTCCAGCAAAAACAGCAGCCCTAATAGCAGCCCACGGACTTTGGGGAGGAGCAAAGGGAGGCTCCGGCTGCCCCAGATTGGCAGCAAAAATAAACTGTCAAGTAGTAAAGAGAACTTGGATGCCAGCAAAGAAAATGGGGCTGGGCAGATATGTGAGCTGGCTGACGCCTTGAGTCGAGGGCATGTGCTGGGGGGCAGCCAACCAGAGTTGGTCACTCCTCAGGACCATGAGGTAGCTTTGGCCAATGGATTCCTTTATGAGCATGAAGCATGTGGCAATGGCTACAGCAATGGTCAGCTTGGAAACCACAGTGAAGAAGACAGCACTGATGACCAAAGAGAAGATACTCGTATTAAGCCTATTTATAATCTATATGCAATTTCG___TGCCATTCAGGAATTCTGGGTGGGGGCCATTACGTCACTTATGCCAAAAACCCAAACTGCAAGTGGTACTGTTACAATGACAGCAGCTGTAAG___GAACTTCACCCGGATGAAATTGACACCGACTCTGCCTACATTCTTTTCTATGAGCAGCAGGGGATAGACTATGCACAATTTCTGCCAAAGACTGATGGCAAAAAGATGGCAGACACAAGCAGTATGGATGAAGACTTTGAGTCTGATTACAAAAAGTACTGTGTGTTACAGTAAAGCTACCACTCTGGCTGCTAGACAGCTTGGCGGTGAGGGAGATGACTCCTTGTAGCTGACATTTGGCAAAAGCGTCACTGAAAGGCAAGCTAAATGTAGTTATTTTATCCTGTGGCCCTGAAGCACAAAATAAAAATTCTAATTAAAATAGTTAACTTTAAGAGTAGTAATCATTTTATTTTGAAGTCTCATACAAGCTCTCCGATAGAGAACTTTCAGGCAGATCCCACCATTAGCCTGTAAACAAAAGGTTTGGCACCAGCCACCTGGGACCAAATAAGAATTCAATTGTGCTTGTCCAGATATGAACAAATATGTAGTGAGTATAGAGTTTACCATAATCATAACAAATATTAAAGATTTCCTTGGAGTCAGAGTAAAAAACAAACAATTATAATGTTGTCTAGGGACGACATGATATGCTACCTCCTTTTTCCTGAAGTTTTATTCCATTATATTGACAAGATGGAGAAAGCAAGATCACGAAGGTGTGCAAATGATTCTTAAGGCATGGACGAGGATTTTTCAATTTATTTTTTAAACTGTTTCCATACCCTTTCTTTGTCTTTCTTGCTTTTTGTTTTTGCCGTTGTATTTATGTTTGAGACACAACCAGTCATTGGTGGCAGGGGCATATAGTGGTCAGTCTGAAAGGGAGGCTCTCTTAAGAGCTGTGTGCCTTCCACCCAGAGCCTTGTGGGAGACCCAGTAGAAAGAAACAGCATCCTGGGAAATCCAGCTACCATGGCCCTCCCAGTGGAGGCATCTTACATTTAGGATACTTCAAGTATCCTCAGAAATGTATTCTGCACCCCCGGCCCCACCCATGCTGAGGGAAGGGGAGCAGTTGCCAATATTTGCACCATCTTCACATGCACCTGTTGCAACAAGAGCTTCTGGGAAGGTAAGTGGCATTGGAGCTAGATCACGTTTCACAATTAGTGGTTGTTCTTTTCTGTGTTTGTCTTGCACTTTAAAAAAGAGAGAACACATGCAAATGAACTTGCTTGTGTGTATTTGATGGCTCTAAGGGCTATAAATTACAAACAAAACACATCCCAGACATTAGGAGTTCATAAGTGTATTTAATGAAATTGGTGGTTTTAGGAAGTCAACTTTAGTTTTGCTTTGTTTGCATGTCCACTAATTTTTTTATTTTGATATTTGTCTTTTTTTTAAATTTTACAGTAGTCATCGAAAGTTATGTTTCTTTGCTTACTTCATTTTTTTCTCTAATCAAGACTGGAACAAAAGTATAAATATTATTTATTTCAGGTAGCATTTTTTTCGTGTAGTTTTTTAATATATACTTGAAGGAAATGTTTCACCTTATTTTTGGTCTTTGTTTATTCATTTAGACCCTGCAAGTTGATTCTCATTAATTGTCAGATTCCACTACCCTTTCTTCCTCATAGATAGTAATTACCAATGTAACTAAGTATTTGTGTTCTGATATCTGAGGCCAGTAACTATTAATATCTAGTTCTCAGAGCATTTGGAAAGGTTATCTTAAATGGCTACCTAAATTGAAATCCTTTTCAGAAAAAATATAATTGCAAGTAGGTAGGACTGGCCTAAATTGTCTAATGTAATAAAGTCAGACAAAATGCATACTTTATAGTTTCAAGATTTTCAGTATATAAAATCTGTCCATTCCCATTAAAAAGTGGAAGATTTTAAATAATTTCTTTACAGATGTTTTATTTAAGCAGGTAGCTCAATCTACTAATGTTGTTTGATCTGTGTTTGTTATACTGGTTGTAATTAATTTTTTTAATTCATGAACTAGCAGAAAATTTATTAAATTAACTATTAACTACATTCACCTTGTAAATTACTGTATAAAACTTGTTGACAATGCACTGACTTTAGAAAGATGTTAATGTACATAAATAGAGTGTAAATAAAATAGTGTTGATGTACCGAAA)$ MEIPNPPTSKCITYWKRKVKSEYMRLRQLKRLQANMGAKALYVANFAKVQEKTQILNEEWKKLRVQPVQSMKPCTIESIFPGFASQHMLMRSLNTVALVPIMYSWSPLQQNFMVEDETVLCNIPYMGDEVKEEDETFIEELINNYDGKVHGEEEMIPGSVLISDAVFLELVDALNQYSDEEEEGHNDTSDGKQDDSKEDLPVTRKRKRHAIEGNKKSSKKQFPNDMIFSAIASMFPENGVPDDMKERYRELTEMSDPNALPPQCTPNIDGPNAKSVQREQSLHSFHTLFCRRCFKYDCFLHPFHATPNVYKRKNKEIKIEPEPCGTDCFLLLEGAKEYAMLHNPRSKCSGRRRRRHHIVSASCSNASASAVAETKEGDSDRDTGNDWASSSSEANSRCQTPTKQKASPAPPQLCVVEAPSEPVEWTGAEESLFRVFHGTYFNNFCSIARLLGTKTCKQVFQFAVKESLILKLPTDELMNPSQKKKRKHr|wvillwktirsgv* 06BR003 ENSG00000136770.11 ENSG00000165632.8 -/- +/+ chr10:21918779 chr10:7963920 CDS/splice-site CDS/splice-site inversion 3 4 0 253 25 high out-of-frame . DnaJ_domain(100%)|PHD-finger(100%) . . ENSG00000136770.11 ENSG00000165632.8 ENST00000376980.8 ENST00000344293.6 upstream upstream duplicates(1) ^(ACTGTGCAGCCCAGGCGCCGGGCGCTGCCTCTACAGCTGTGTGTAGGCCTGGGGGCGAGGGTCTTCGGAACGTAGCGCTGGCTGCGGCCCCGCCCGCCTACCCACCCGCCCGTCCGGCAGCCGGCTCCCGCCGCCTCCGCGCTCTGTCTGGGGCCAGCCACCTGGCGGGCCGCTCCGGTGCGCCTGCCCGCGCTTTTCACTGACAGGCGCTGTTCCCCACAGCCAGCGCCGCCCGCCACGTCCCAGCTCTCGGCCAACGGAGCTGCGCGGCGGGTGACCTTTCCGAGCCCAGCGCGATGACGGCTCCTTGCTCCCAGCCGGCGCAGCTTCCTGGACGCCGCCAGCTCGGGCTGGTGCCGTTCCCGCCGCCGCCGCCGCGGACGCCGCTGCTGTGGCTGCTGCTGCTGCTGCTGGCCGCCGTGGCGCCGGCGCGCGGCTGGGAGAGCGGAGACCTGGAGTTGTTTGACTTAGTGGAGGAGGTGCAGCTCAACTTCTACCAGTTCCTCGGGGTGCAGCAG___GATGCATCATCTGCAGACATCAGAAAAGCATATCGTAAGCTTTCACTAACTTTACATCCAGACAAGAATAAAGATGAAAATGCAGAAACTCAGTTTAGACAA___TTGGTGGCCATTTATGAAGTTTTAAAGGATGATGAACGAAGGCAGAG___GTATGATGATATTCTGATCAATGGACTTCCAGATTGGCGACAGCCTGTATTCTACTACAGGCGGGTGAGAAAAATGAGCAATGCTGAGCTGGCATTACTCTTGTTCATTATTCTCACAGTGGGTCATTATGCTGTGGTTTGGTCAATCTACCTGGAAAAACAACTG___GATGAACTACTAAGTAGAAAAAAGAGAGAAAAGAAAAAAAAGACTGG)CAGCAAGAGTGTGGATGTATCAAAACTCGGTGCTTCAGAAAAAAATGAAAG___ATTGCTGATGAAACCACAGTGGCATGATTTGCTTCCATGCAAACTGGGGATTTGGTTTTGCCTTACACTAAAAGCATTACCTCACCTCATCCAG|AAGAAGAAGAAGAGCAGGTGCCCACTGATGGAGGCACATCAGCAGAAGCCATGCAGGTTCCCTTGGAAGAAGATGATGAATTGGAGGAGGAAGAAATTATTAATGATGAGAATTTCCTGGGCAAGAGACCACTGGATAGTCCTGAAGCTGAAGAACTGCCAGCCATGAAGCGGCCTCGGCTATTAAGCACTAAAGGGGACACGCTAGATGTTGTGTTATTGGAAGCgCGAGAGCCACTCAGCTCAATAAATACTCAAAAG(ATCCCACCAATGCTTTCTCCAGTCCATGTACAGGACAGTACAGACTTGGCACCTCCCTCACCCGAGCCGCCAATGTTGGCTCCAGTTGCAAAATCACAAATGCCAACTGCAAAACCATTAGAAACAAAGTCATTTACACCTAAAACAAAGACTAAAACTAGCTCTCCAGGACAGAAGACTAAATCACCTAAAACCGCCCAGTCACCAGCAATGGTCGGAAGTCCTATTCGATCACCAAAAACTGTATCCAAAGAAAAGAAATCACCTGGACGTTCCAAGAGCCCCAAGAGTCCCAAGAGCCCCAAGGTCACGACTCACATTCCCCAAACACCTGTGAGACCTGAAACGCCCAACAGGACTCCTTCAGCTACACTCAGTGAAAAAATCAGTAAAGAGACTATCCAGGTAAAACAAATACAGACACCCCCTGATGCTGGGAAACTGAACAGTGAGAATCAGCCGAAAAAGGCTGTGGTAGCAGATAAAACGATTGAGGCCTCTATCGATGCTGTGATTGCACGAGCCTGTGCTGAGCGAGAGCCAGATCCTTTCGAATTTTCTTCTGGATCGGAATCTGAAGGAGACATTTTTACTAGCCCTAAGAGAATTTCAGGCCCGGAGTGTACTACTCCCAAAGCTTCCACTTCCGCGAACAATTTCACAAAGTCAGGATCCACTCCTCTGCCTCTTTCCGGTGGAACCTCAAGTTCCGATAACTCATGGACAATGGATGCCTCCATTGATGAGGTTGTACGTAAAGCAAAACTGGGAACACCTTCAAATATGCCCCCCAACTTTCCTTATATCTCTTCTCCGTCAGTGTCTCCTCCCACTCCCGAACCTCTCCACAAGGTGTATGAGGAGAAAACCAAGCTGCCTTCCTCCGTGGAGGTAAAGAAGAAGTTGAAAAAGGAACTAAAGACTAAAATGAAAAAGAAAGAAAAGCAGAGAGATAGGGAGAGGGAAAAAGACAAGAACAAGGACAAAAGTAAGGAGAAGGATAAAGTGAAAGAGAAAGAGAAAGACAAGGAAACTGGCAGGGAAACAAAGTATCCCTGGAAGGAATTTCTTAAAGAGGAAGAGGCAGATCCCTACAAGTTTAAAATCAAAGAATTTGAAGATGTTGATCCCAAAGTGAAATTGAAAGATGGACTTGTGAGGAAGGAGAAAGAGAAGCATAAAGATAAGAAGAAAGATAGAGAGAAAGGCAAGAAAGATAAAGATAAGAGAGAGAAAGAAAAAGTGAAAGATAAAGGCAGAGAAGATAAGATGAAAGCCCCAGCACCCCCACTGGTGTTGCCCCCAAAAGAGTTGGCCCTGCCCTTGTTCAGCCCTGCCACAGCCTCCAGGGTCCCAGCCATGCTGCCATCTTTGTTGCCAGTGCTTCCGGAAAAACTGTTTGAGGAGAAAGAGAAGGTGAAGGAGAAAGAAAAGAAAAAGGACAAAAAGGAGAAGAAGAAAAAGAAGGAAAAAGAGAAGGAGAAGAAGGAGAAGGAAAGAGAGAAAGAGAAGAGAGAGCGAGAGAAGAGAGAAAAAGAGAAGGAGAAACACAAGCATGAAAAA___ATAAAAGTGGAACCAGTCGCTCTGGCCCCGAGTCCAGTTATCCCCAGATTAACTCTCCGAGTCGGTGCTGGCCAAGACAAGAT___TGTCATCAGCAAGGTGGTCCCTGCCCCCGAGGCCAAGCCGGCGCCCTCGCAGAACAGGCCGAAGACCCCACCGCCGGCCCCCGCGCCCGCCCCCGGCCCCATGCTCGTCAGCCCTGCGCCCGTGCCGCTGCCGCTGCTCGCCCAGGCCGCCGCGGGCCCTGCCCTGCTGCCCTCCCCGGGTCCCGCCGCCTCCGGGGCCAGTGCCAAAGCCCCCGTGCGCAGCGTGGTGACTGAGACGGTCAGCACCTACGTG___ATCCGAGATGAGTGGGGCAATCAGATCTGGATCTGCCCTGGGTGTAACAAGCCTGACGATGGGAGTCCCATGATTGGGTGTGACGACTGCGATGACTGGTACCACTG___GCCCTGTGTTGGAATCATGACTGCACCCCCAGAAGAGATGCAGTGGTTCTGCCCCAAGTGTGCGAACAAGAAGAAGGACAAAAAGCACAAGAAGAGGAAGCATCGAGCCCACTGACGACTCCCGAGGGGCTGGACCAAGCGGGGTCAGCCCGGGCTTCTTCCCTGGCGCCTCTGGAAGGGAGCTGGTGCAAGTCTGCCGTCACATCCACCCCCAGATGCCTGTGGATAAAGAACCCAGGAGGACTGAGGCTGGAACACACCGCGCACCTGGATTGTTCACTCCCGAGCCGCCTTGGCCTGTGGCTCCGTGGCAGTGCGACAGAAGGAAACTCAAGCAGAGGCGTGGCCTGGGGGCTGCCCCTCCTCCACTTCTCTAATACCAGTGACAAGTATTATTAATAAAGAGCGTACATCTTCCCTTTTGATTTCCTTTATTCTCTCCAGGGCCTTTTCATTGAGGTATTAGATGAGAAGATAATGTACAAACTGCCTCAACTGTAATTTAAGGATGATAGAGTCTGTATACAGTTTTCAGCCCCTTTCCCTCTATAGTAAGATAATCAGAATAACATAAAAGAAAACTCCAGTTGGAGTACCGGTAAATATTTTTGTGATAAGAATATATGAAGCTTCCCTCCTTCCCCCGTTTTTAGTACTAACATGTAAAATGTTCAGGCTTTTGTGAAATACCTTATATTTTTTAAGAAAAAGGTTTCTATCATGTCCTGTTTGCTTTTGTGCAAATTATTTTTGTTTAATGTATTTTATATCTTCGTTGCATTCTAATTTTGCCCTTCTTTAAACTGCTGGAGTCTCTTCTCACTGCTTGTACATTTCATCAACTTGTATAAAAACTCTTCAGACTAAAAGATTGCCCCTAATGTAAATAATAAATATTTATGAAGTAGTTATTTTTTAAATTTTTATCGTGTTTAATTCTGGCTTTCTCTGAAATCCACTGTGATTTCAGCCAGGTCTGTAATGACGCTGGACAGAAACAAGGCTAGAGAAAAAGCCATCGTTCAAAGAAATTTCCCTTGAGCTCAGCCTGCGCAGTGCCCGGAAACATGGTGGGGAAAGGGCCCGAGCAGTTGGAAGGAAAACAAGGCAATTTAAATTTAGAGTTTATGACTTGAAGTTGTTTTGTTTGTTGTCTATTTTGTTTTTGTAAATTTCTTTGACAGACTTTTACTAAAAGGACATGTAGTTTCCATGAAAGTAAAAAAAAAAAACAACAAAAAACCCACATATACTGTAGCATTTTGTCTTTATATTGTTTTATTTCTACAAATCTGTTCATTAATATTGTGCTTTAAGGCTGAAATGAAGTATATTATGAATTTTTTTAAGAAAACTCATCAAATTTCAGGGTATCACAAAACTTTATTATATTATTATACTGCCCACTATTTATTATATGTTATAGATGTCTGAGAGGTAAACCAAATATTTTATTTTTAATGTTAAAAAAACATCAAATTTAACTTTATTAGCATATTTTAGCAACTTTGGGATAAATACGGACTTTTACTTGATTTTGAAATAATCCCAGTGTAGGCCCATGTGCTGGATCTGTTGGATGCTAGAATATGGGCTTTGAACCTAATACAAATATATTACTAGAAAATGTGATTTTTTTAAATGCCAAGTAAATTGATATTAGTGTATGAATTAGTCATATTTTAAAACATTATGTGGTTAGAGAAATGCGGTTTTCTGCCATGAATGTTAAGTTGCAAATCAGTGGAAATGGAGTCGACCTCTTCGGAGCACAGGGTGTCATTGCCCTCGTTGTTCAAGAGGCCAGAATTTTTCTATCCCCGCTAAGAAACAAAGCATCTATGTTGAGATATGTGTTTTTTTGTTTGATTAATTTGAGATCATTCTAAATACTTTATACAATATTTTCACATGCACAAAAATGCGCGTTAGTGGTTTTTGGAGAGGGGTGAGGGGTGGGGGAAGTGCAAAATAAAGATTATTGGCTATTTCATA)$ MTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVEEVQLNFYQFLGVQQDASSADIRKAYRKLSLTLHPDKNKDENAETQFRQLVAIYEVLKDDERRQRYDDILINGLPDWRQPVFYYRRVRKMSNAELALLLFIILTVGHYAVVWSIYLEKQLDELLSRKKREKKKKTGSKSVDVSKLGASEKNERLLMKPQWHDLLPCKLGIWFCLTLKALPHLIQ|kkkksrcplmeahqqkpcrfpwkkmmnwrrkkllmmriswardhwivlklkncqp* 06BR003 ENSG00000154229.12 ENSG00000188825.14 +/+ -/+ chr17:66786974 chr17:43377913 CDS/splice-site intron duplication/5'-5' 4 2 0 163 5 high out-of-frame . C2_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_domain(100%)| . . ENSG00000154229.12 ENSG00000188825.14 ENST00000413366.8 . downstream upstream . ^(GTCAGTGAGCCTGGGGCCAGCGGGCGAGCCAGCGGCTCCGGCTCCCGCTCCCGCTCCGCGCAGCACCAGCCCGACTCTCCCCGGCCCCCGCCGCGCCCCCTCGCCGCGACCTCGGCCACCGGCCCGCGCCCCGCGCCCGGGGTCGCCCCGAGCCCGCACCTCTCCCCCGCCGCCCCCGCCCACCCGGCCCTCCGCGGCCGCAGCTCCCCGGCGGAGGCAAGAGGTGGTTGGGGGGGACCATGGCTGACGTTTTCCCGGGCAACGACTCCACGGCGTCTCAGGACGTGGCCAACCGCTTCGCCCGCAAAGGGGCGCTGAGGCAGAAGAACGTGCACGAGGTGAAGGACCACAAATTCATCGCGCGCTTCTTCAAGCAGCCCACCTTCTGCAGCCACTGCACCGACTTCATCTG___GGGGTTTGGGAAACAAGGCTTCCAGTGCCAAG___TTTGCTGTTTTGTGGTCCACAAGAGGTGCCATGAATTTGTTACTTTTTCTTGTCCGGGTGCGGATAAGGGACCCGACACTGAT___GACCCCAGGAGCAAGCACAAGTTCAAAATCCACACTTACGGAAGCCCCACCTTCTGCGATCACTGTGGGTCACTGCTCTATGGACTTATCCATCAAGGGATGAAATGTGACA___CCTGCGATATGAACGTTCACAAGCAATGCGTCATCAATGTCCCCAGCCTCTGCGGAATGGATCACACTGAGAAGAGGGGGCGGATTTACCTAAAGGCTGAGGTTGCTGATGAAAAGCTCCATGTCACAG___TACGAGATGCAAAAAATCTAATCCCTATGGATCCAAACGGGCTTTCAGATCCTTATGTGAAGCTGAAACTTATTCCTGATCCCAAGAATGAAAGCAAGCAAAAAACCAAAACCATCCGCTCCACACTAAATCCGCAGTGGAATGAGTCCTTTACATT___CAAATTGAAACCTTCAGACAAAGACCGACGACTGTCTGTAGAAATCTGGGACTGGGATCGAACAACAAGGAATGACTTCATGGGATCCCTTTCCTTTGGAGTTTCGGAGCTGATGAAGATGCCGGCCAGTGGATG___GTACAAGTTGCTTAACCAAGAAGAAGGTGAGTACTACAACGTACCCATTCCGGAAGGGGACGAGGAAGGAAACATGGAACTCAGGCAGAAATTCGAG___AAAGCCAAACTTGGCCCTGCTGGCAACAAAGTCATCAGTCCCTCTGAAGACAGGAAACAACCTTCCAACAACCTTGACCGAGTGAAACTCACGGACTTCAATTTCCTCATGGTGTTGGGAAAGGGGAGTTTTGGAAAG___GTGATGCTTGCCGACAGGAAGGGCACAGAAGAACTGTATGCAATCAAAATCCTGAAGAAGGATGTGGTGATTCAGGATGATGACGTGGAGTGCACCATGGTAGAAAAGCGAGTCTTGGCCCTGCTTGACAAACCCCCGTTCTTGACGCAGCTGCACTCCTGCTTCCAGACAGTG___GATCGGCTGTACTTCGTCATGGAATATGTCAACGGTGGGGACCTCATGTACCACATTCAGCAAGTAGGAAAATTTAAGGAACCACAAGCAGT___ATTCTATGCGGCAGAGATTTCCATCGGATTGTTCTTTCTTCATAAAAGAGGAATCATTTATAG___GGATCTGAAGTTAGATAACGTCATGTTGGATTCAGAAGGACATATCAAAATTGCTGACTTTGGGATGTGCAAGGAACACATGATGGATGGAGTCACGACCAGGACCTTCTGTGGGACTCCAGATTATATCGCCCCAGAG___)ATAATCGCTTATCAGCCGTATGGAAAATCTGTGGACTGGTGGGCCTATGGCGTCCTGTTGTATGAAATGCTTGCCGGGCAG___CCTCCATTTGATGGTGAAGATGAAGACGAGCTATTTCAGTCTATCATGGAGCACAACGTTTCCTATCCAAAATCCTTGTCCAAGGAGGCTGTTTCTaTCTGCAAAGGA|TAACCATGATCACGACCACATTTGAGAATCAGGGCTCTTTGCAGCTGGGGCAATACTTCTGGATCGGGAGCAACTTATCATGGAGGACCTGGTATTAGAGGACACGTTGAC MADVFPGNDSTASQDVANRFARKGALRQKNVHEVKDHKFIARFFKQPTFCSHCTDFIWGFGKQGFQCQVCCFVVHKRCHEFVTFSCPGADKGPDTDDPRSKHKFKIHTYGSPTFCDHCGSLLYGLIHQGMKCDTCDMNVHKQCVINVPSLCGMDHTEKRGRIYLKAEVADEKLHVTVRDAKNLIPMDPNGLSDPYVKLKLIPDPKNESKQKTKTIRSTLNPQWNESFTFKLKPSDKDRRLSVEIWDWDRTTRNDFMGSLSFGVSELMKMPASGWYKLLNQEEGEYYNVPIPEGDEEGNMELRQKFEKAKLGPAGNKVISPSEDRKQPSNNLDRVKLTDFNFLMVLGKGSFGKVMLADRKGTEELYAIKILKKDVVIQDDDVECTMVEKRVLALLDKPPFLTQLHSCFQTVDRLYFVMEYVNGGDLMYHIQQVGKFKEPQAVFYAAEISIGLFFLHKRGIIYRDLKLDNVMLDSEGHIKIADFGMCKEHMMDGVTTRTFCGTPDYIAPEIIAYQPYGKSVDWWAYGVLLYEMLAGQPPFDGEDEDELFQSIMEHNVSYPKSLSKEAVSiCKG|* 06BR003 ENSG00000171475.14 ENSG00000065675.15 +/+ -/- chr17:40219492 chr10:6515144 5'UTR/splice-site 5'UTR/splice-site translocation 2 1 0 39 6 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000171475.14 ENSG00000065675.15 ENST00000323571.9 ENST00000397176.6 downstream downstream . ^(ATTTTGTTCGCGGACGCTGGGGACGGTGGGAGCAGATCCATTTCCGGGTTGGCAAAAGGGGCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCG)GCGACGGCGAGAAAGAGCTTGCCGGGGGGCGAGCAGGACAGGACGAAGCCGGAGTGTAGGCGGCAGAGGATTCGCTCCCAGAGCAGCTGCGGCCAG|GGCGCAACCATGTCGCCATTTCTTCGGATTGGCTTGTCCAACTTTGACTGCGGGTCCTGCCAGTCTTGTCAGGGCGAGGCTGTTAACCC(TTACTGTGCTGTGCTCGTCAAAGAGTATGTCGAATCAG___AGAACGGGCAGATGTATATCCAGAAAAAGCCTACCATGTACCCACCCTGGGACAGCACTTTTGATGCCCATATCAACAAGGGAAGAGTCATGCAGATCATTGTGAAAGGCAAAAACGTGGACCTCATCTCTGAAACCACCGTGGAGCTCTACTCGCTGGCTGAGAGGTGCAGGAAGAACAACGGGAAGACAGAAATATGG___TTAGAGCTGAAACCTCAAGGCCGAATGCTAATGAATGCAAGATACTTTCTGGAAATGAGTG___ACACAAAGGACATGAATGAATTTGAGACGGAAGGCTTCTTTGCTTTGCATCAGCGCCGGGGTGCCATCAAGCAGGCAAAGGTCCACCACGTCAAGTGCCACGAGTTCACTGCCACCTTCTTCCCACAGCCCACATTTTGCTCTGTCTGCCACGAGTTTGTCTG___GGGCCTGAACAAACAGGGCTACCAGTGCCGAC___AATGCAATGCAGCAATTCACAAGAAGTGTATTGATAAAGTTATAGCAAAGTGCACAGGATCAGCTATCAATAGCCGAGAAACCATG___TTCCACAAGGAGAGATTCAAAATTGACATGCCACACAGATTTAAAGTCTACAATTACAAGAGCCCGACCTTCTGTGAACACTGTGGGACCCTGCTGTGGGGACTGGCACGGCAAGGACTCAAGTGTGATG___CATGTGGCATGAATGTGCATCATAGATGCCAGACAAAGGTGGCCAACCTTTGTGGCATAAACCAGAAGCTAATGGCTGAAGCGCTGGCCATGATTGAGAGCACTCAACAG___GCTCGCTGCTTAAGAGATACTGAACAGATCTTCAGAGAAGGTCCGGTTGAAATTGGTCTCCCATGCTCCATCAAAAATGAAGCAAGGCCGCCATGTTTACCGACACCGGGAAAAAGAG___AGCCTCAGGGCATTTCCTGGGAGTCTCCGTTGGATGAGGTGGATAAAATGTGCCATCTTCCAGAACCTGAACTGAACAAAGAAAGACCATCTCTGCAGATTAAACTAAAAATTGAGGATTTTATCTTGCACAAAATGTTGGGGAAAGGAAGTTTTGGCAAG___GTCTTCCTGGCAGAATTCAAGAAAACCAATCAATTTTTCGCAATAAAGGCCTTAAAGAAAGATGTGGTCTTGATGGACGATGATGTTGAGTGCACGATGGTAGAGAAGAGAGTTCTTTCCTTGGCCTGGGAGCATCCGTTTCTGACGCACATGTTTTGTACATTCCAGACCAAG___GAAAACCTCTTTTTTGTGATGGAGTACCTCAACGGAGGGGACTTAATGTACCACATCCAAAGCTGCCACAAGTTCGACCTTTCCAGAGCGAC___GTTTTATGCTGCTGAAATCATTCTTGGTCTGCAGTTCCTTCATTCCAAAGGAATAGTCTACAG___GGACCTGAAGCTAGATAACATCCTGTTAGACAAAGATGGACATATCAAGATCGCGGATTTTGGAATGTGCAAGGAGAACATGTTAGGAGATGCCAAGACGAATACCTTCTGTGGGACACCTGACTACATCGCCCCAGAG___CTCTTCGTGCGAGAACCTGAGAAGAGGCTGGGCGTGAGGGGAGACATCCGCCAGCACCCTTTGTTTCGGGAGATCAACTGGGAGGAACTTGAACGGAAGGAGATTGACCCACCGTTCCGGCCGAAAGTG___AAATCACCATTTGACTGCAGCAATTTCGACAAAGAATTCTTAAACGAGAAGCCCCGGCTGTCATTTGCCGACAGAGCACTGATCAACAGCATGGACCAGAATATGTTCAGGAACTTTTCCTTCATGAACCCCGGGATGGAGCGGCTGATATCCTGAATCTTGCCCCTCCAGAGACAGGAAAGAATTTGCCTTCTCCCTGGGAACTGGTTCAAGAGACACTGCTTGGGTTCCTTTTTCAACTTGGAAAAAGAAAGAAACACTCAACAATAAAGACTGAGACCCGTTCGCCCCCATGTGACTTTTATCTGTAGCAGAAACCAAGTCTACTTCACTAATGACGATGCCGTGTGTCTCGTCTCCTGACATGTCTCACAGACGCTCCTGAAGTTAGGTCATTACTAACCATAGTTATTTACTTGAAAGATGGGTCTCCGCACTTGGAAAGGTTTCAAGACTTGATACTGCAATAAATTATGGCTCTTCACCTGGGCGCCAACTGCTGATCAATGAAATGCTTGTTGAATCAGGGGCAAACGGAGTACAGACGTCTCAAGACTGAAACGGCCCCATTGCCTGGTCTAGTAGCGGATCTCACTCAGCCGCAGACAAGTAATCACTAACCCGTTTTATTCTATTCCTATCTGTGGATGTGTAAATGGCTGGGGGGCCAGCCCTGGATAGGTTTTTATGGGAATTCTTTACAATAAACATAGCTTGTAACTTGAGATCTACAAATCCATTCATCCTGATTGGGCATGAAATCCATGGTCAAGAGGACAAGTGGAAAGTGAGAGGGAAGGTTTGCTAGACACCTTCGCTTGTTATCTTGTCAAGATAGAAAAGATAGTATCATTTCACCCTTGCCAGTAAAAACCTTTCCATCCACCCATTCTCAGCAGACTCCAGTATTGGCACAGTCACTCACTGCCATTCTCACACTATAACAAGAAAAGAAATGAAGTGCATAAGTCTCCTGGGAAAAGAACCTTAACCCCTTCTCGTGCCATGACTGGTGATTTCATGACTCATAAGCCCCTCCGTAGGCATCATTCAAGATCAATGGCCCATGCATGCTGTTTGCAGCAGTCAATTGAGTTGAATTAGAATTCCAACCATACATTTTAAAGGTATTTGTGCTGTGTGTATATTTTGATAAAATGTTGTGACTTCATGGCAAACAGGTGGATGTGTAAAAATGGAATAAAAAAAAAAAAAGAGTC)$ . 06BR003 ENSG00000198265.12 ENSG00000203565.3 -/- +/+ chr17:67243784 chr10:33685058 5'UTR/splice-site exon translocation 0 38 0 44 128 medium . . . . . ENSG00000198265.12 ENSG00000203565.3 ENST00000358691.10 ENST00000366376.3 upstream upstream duplicates(6),mismappers(3) ^(GTGGGGACGTTGACAAGTGGATCCAAGATGGCGTAGAAAGTAATGACAG___)GATTTGGATGAAGTAATGGATCACTAATGAACTACAGTGCTGGTGAGATGTGTAAG|AGACAGGGTTTCTCCATGTTGCTCAGGCTGGTCTCGAACTCCTGTCCTCAAATAATCCACCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGCCGTGAGCCACTGCACCTGGCCTGACATTTG___CCCCAGTGCCAACCCCATTCTCTGCATCTCAGATTCCTCGGTAACTTCATGTCATGGAATTCTAACAAGTTTTGGCTGATTGATATAGCAAAAC . 06BR003 ENSG00000185630.19 ENSG00000201987.1(30210),ENSG00000225487.2(36776) +/+ ./+ chr1:164821626 chr1:164884542 CDS/splice-site intergenic deletion/read-through 7 6 0 252 14 medium stop-codon . Homeobox_domain(100%),PBC_domain(100%)| . . ENSG00000185630.19 . ENST00000367897.5 . downstream upstream mismappers(1) ^(ATGGACGAGCAGCCCAGGCTGATGCATTCCCATGCTGGGGTCGGGATGGCCGGACACCCCGGCCTGTCCCAGCACTTGCAGGATGGGGCCGGAGGGACCGAGGGGGAGGGCGGGAGGAAGCAGGACATTGGAGACATTTTACAGCAAATTATGACCATCACAGACCAGAGTTTGGATGAGGCGCAGGCCAG___AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTGTTGTGTGAAATCAAAGAAAAAACAG___TTTTGAGTATCCGAGGAGCCCAGGAGGAGGAACCCACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCTGAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGTTCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATCTACCATACGGAGCTGGAGAAATACGAGCAG___GCCTGCAACGAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATGGTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGCGAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG___GCGGAAGAGACGGAATTTCAACAAGCAAGCGACAGAAATCCTGAATGAATATTTCTATTCCCATCTCAGCAACCCTTACCCCAGTGAGGAAGCCAAAGAGGAGTTAGCCAAGAAGTGTGGCATCACAGTCTCCCAG___G)TATCAAACTGGTTTGGAAATAAGCGAATCCGGTACAAGAAGAACATAGGTAAATTTCAAGAGGAAGCCAATATTTATGCTGCCAAAACAGCTGTCACTGCTACCAATGTGTCAGCCCATGGAAGCCAAGCTAACTCGCCCTCAACTCCCAACTCGGCTG___GTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGT|GAAATTGCAAGAACCTATTGATGGCTTGGATGCTCTGGTGGTGACAGCAAGTCCTCTTCTCTTGACTGAAGAAATGTCTTCCCCTATCTGAAAAGTGGCCTCTCTTCCGGAATGACACATACTGACTTTTGAAGAAGCAAAAGGATACCTGCTGGCCAGTCATATCAGCCAAAAAACTCTGGTGAGCAGTGAGTTGGCAGATGTTGCAACTGGAAGACTGTGGCATCAACAGAGCCCCA . 06BR003 ENSG00000033627.16 ENSG00000248883.2(37588),ENSG00000167080.9(8170) +/+ ./- chr17:42499116 chr17:49124290 intron intergenic inversion 9 2 0 19 19 medium stop-codon . V-type_ATPase_116kDa_subunit_family__(100%)| . . ENSG00000033627.16 . ENST00000343619.8 . downstream downstream . ^(GCTGCTCCTGGAGCCGCGGAGGGTGCGGGTTTGGCTGCGGTGGTTTCTGTGGCGGTTGCTGTGGCGGAGTTTGGAG___GTTGGAGAGAAATCCAGGTACTCACTAGACTGGTACCTTCTGCCACCATGGGGGAGCTTTTCCGGAGTGAAGAAATGACACTGGCCCAGCTTTTTCTACAGTCAGAGGCTGCTTATTGTTGTGTCAGTGAATTAGGAGAACTTGGAAAGGTTCAGTTTCGTGAC___TTAAATCCAGATGTGAATGTTTTCCAACGGAAATTTGTGAATGAAGTTAGAAGATGTGAAGAAATGGATCGAAAGCTTC___GATTTGTTGAGAAAGAGATAAGAAAAGCTAACATTCCGATTATGGACACCGGTGAAAACCCAGAGGTTCCCTTCCCCCGGGACATGATTGACTTAGAG___GCCAATTTTGAGAAGATTGAAAATGAACTGAAGGAAATCAACACAAACCAGGAAGCTCTGAAGAGAAACTTCCTGGAACTGACCGAATTAAAATTTATACTTCGCAAAACTCAGCAATTTTTTGATGAG___ATGGCGGATCCAGACTTGTTGGAAGAGTCCTCATCCCTCTTGGAGCCAAGTGAGATGGGAAGAGGCACTCCTTTAAGACTTGG___CTTCGTGGCTGGTGTCATTAACCGGGAGCGCATCCCTACTTTTGAGCGCATGCTTTGGCGGGTATGCCGGGGAAATGTGTTCCTGCGACAGGCTGAAATCGAGAACCCCCTGGAGGATCCTGTGACT___GGCGACTACGTGCACAAGTCTGTGTTTATCATTTTCTTCCAAGGCGATCAGCTGAAAAACAGAGTCAAGAAAATCTGTGAAGG___GTTCCGAGCCTCACTCTATCCCTGTCCTGAGACACCACAGGAGAGGAAGGAAATGGCTTCTGGAGTGAATACCAGGATTGATGATCTCCAAATG___GTTCTGAATCAAACGGAGGATCACCGCCAGAGGGTTCTGCAGGCAGCTGCTAAGAACATCCGTGTCTGGTTCATCAAAGTGCGGAAGATGAAGGCCATCTATCACACCCTGAACCTGTGCAACATAGATGTGACTCAGAAATGCTTGATTGCAGAGGTCTGGTGCCCTGTCACCGACCTTGACTCCATCCAGTTTGCACTCAGAAGGGGCACG___GAACACAGTGGTTCCACTGTACCTTCCATTTTGAACAGGATGCAGACAAACCAGACTCCCCCAACCTATAACAAAACCAACAAGTTTACCTATGGCTTTCAGAACATAGTAGATGCTTATGGAATTGGAACTTACCGAGAGATAAATCCAG___CTCCGTATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGCATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAGAAGAATGAGAATGAG___ATGTTTAGCACTGTGTTCAGTGGTCGATACATTATTTTATTGATGGGTGTGTTCTCCATGTACACTGGCCTCATCTACAATGATTGCTTTTCCAAGTCTCTTAATATCTTTGGGTCATCCTGGAGTGTACGGCCGATGTTTACTTATAATTGGAC___TGAAGAGACGCTTCGGGGGAACCCTGTTCTACAGCTGAACCCAGCCCTCCCTGGAGTGTTTGGTGGACCATACCCTTTTGGCATTGATCCA___ATTTGGAACATTGCTACCAATAAACTGACGTTCTTGAACTCCTTTAAG)ATGAAGATGTCTGTTATCCTTGGTATCATCCATATGCTGTTTGGAGTCAGCCTGAGTCTGTTCAACCATATGTGAGTTGTTCCATTTCTGTCATAAGAATGTGCATAGTTTAGAGAATGCTTTTGTGTAAAGAAATCATGACATC|ATCAGAATAGAGGAAAAACGTTCAGGACTCTCGAAGAGCTAAAACGTTCATTAATATCAAGCAGGACAGAAATTAACTGCATTAACTGAACTAATAGGAGACTGAAGTGATCTTTTTGACGTTTTGCTGAAAATATTGCTAATCCTTTGTTTTGCTTTTCAAAGTCAAAGAAACTTTTCTTTTGAGCTATTGAC . 06BR003 ENSG00000159314.11 ENSG00000148498.16 -/- -/- chr17:45425564 chr10:34317338 5'UTR/splice-site CDS/splice-site translocation 10 0 0 22 329 medium . . . . . ENSG00000159314.11 ENSG00000148498.16 ENST00000376922.6 ENST00000545260.5 upstream downstream . ^ACATGAGCAGGCAGCCCCGACTGGAAGGAGCCCGGGGCCCTCATTCCTTCTCCTCCACTGGGAACTGA|TGGAAGAAGACACAGAAGAAAGTTCAAGATCAGGGAGAGAGTCTGTATCCACAGCCAGTGATCAGCCTTCCCACTCTCTG(GAGAGACAAATGAATGGAAACCAAGAGAAAGGTGATAAGACTGATAGAAAAAAGGATAAAACTGGAAAAGAAAAGAAGAAAGATAGAGATAAGGAGAAGGATAAAATGAAAGCCAAGAAGGGAATGCTGAAGGGCTTGGGAGACATGTTCAG___GTTTGGCAAACATCGAAAAGATGACAAGATTGAGAAAACGGGTAAAATAAAAATACAGGAATCCTTTACATCAGAAGAGGAGAGGATACGAATGAAGCAGGAGCAGGAGAG___GATTCAAGCCAAAACTCGAGAATTTAGGGAACGACAAGCTCGAGAGCGTGACTATGCTGAAATTCAAGATTTTCATCGGACATTTGGCTGTGATGATGAGTTAATGTATGGGGGAGTTTCTTCTTATGAAGGTTCCATGGCTCTCAACGCTAGACCTCAGAGCCCACGAGAAGGGCATATGATGGATGCTTTGTATGCCCAAGTCAAGAAGCCGCGGAATTCCAAACCCTCACCTGTAGACAG___TAACAGATCAACTCCTAGCAATCATGATCGGATACAGCGTCTGAGGCAAGAATTTCAGCAAGCAAAGCAAGATGAAGATGTAGAAGATCGTCGGCGGACCTATAGTTTTGAGCAACCCTGG___CCGAACGCACGGCCGGCGACGCAGAGCGGGCGACACTCGGTGTCCGTGGAGGTGCAGATGCAGCGGCAGCGGCAGGAGGAGCGCGAGAGCTCCCAGCAGGCCCAGCGCCAGTACAGCTCTCTGCCTCG___GCAAAGCAGGAAAAATGCCAGCTCGGTCTCCCAGGACTCTTGGGAGCAGAACTACTCCCCTGGGGAAGGCTTCCAGAGTGCCAAAGAGAACCCCAGGTACTCCAGCTACCAAGGCTCCAGGAACGGCTACCTGGGAGGACATGGCTTCAACGCCAGGGTCATGCTGGAAACTCAGGAGCTCCTTCGCCAGGAACAGAGGCGGAAGGAGCAGCAGATGAAGAAGCAGCCTCCTTCCGAGGGGCCCAGCAACTATGACTCGTATAAGAAAGTCCAGGACCCCAGTTACGCCCCTCCCAAGGGGCCCTTCCGGCAAGATGTGCCCCCCTCCCCTTCTCAGGTTGCGAGGCTGAACAGACTTCAGACTCCTGAGAAAGGGAGGCCCTTCTATTCCTGAGCACGCAAATAACGGATGCTTCATGTCGCGCAATAAAAGACATTTTCCTATGAAGACTTGTATTTTGGGAGTTTTTTTAAAACCTCGATGGTACTATGGAGTATTTCTGTTGTTGGTATCAGTGCCTTTAAGCGGTGTAGGCAAAGAAATGGAAGGCCTTAATGTCTTTGCCACTATGTCTCAAGTGTCTGTTTCATGGAAGGATTTCCCACCCTGTGACAATCATCTGTTTGAGGTGTTCATATGCTCTGCGCCTCTCCACAGTACCAGGAATCTCGGCCCTACTCATGAGTTGTCCGCGGCTTGGTTGTAACATCCCTGCACCACTTGCAGTGACAAATTCACCTGAAGTGGAGGATGACGTGCGGCCCTGTTTCTCCCTCTAAGTTCTCTTAGCTATGGGATGACATCTTAGTCTCTGGTGGAGGAAAAGTGGGCGACATACACCAAAAATTGGGGCTTTCTGGTACTTCACAGCACAGCCATTTGTCGTACTTTGTCATCACTGTGGTTTTCTCTTTCCTTTCTCAGCTCTTTGTGACGGGAGAGTCGGTCATCCTATTACAGAAGCTAAGCCATAGTCCAACATTGTTTGGTCACCATGGGGGTCCTTTTGTAACTGCCTTATGACTCAACATTACCAATAAAGTGATGATCCTGGTCTGCGTTTATACATACGCTTGTTCGGTCCTGTTCCTGACACGTGGGTTGAGTCACCACAGCTCTGTGTGGGGAACGTGGGAGACAGGAGTGGCTCCTGCCGGGGGAAGCTGGGCCTGCCATTGGCCCTGTGTCTATCATGAGGGGAGAGCTAAGAAAGAAATTCTCCTAGGAAGAGCTCATGGCCCAGTACATCCTAGTAATTATTTTAATTAGTTTTTGTTCTGACAGCTTGTCAGGAAGGGCACAGAATGGGACAGAGATAAACCAGACAGTCATTTTGATCTGCTCTCTACGGTTTTTCAAGTCAGAGGCAATTGATGCTTGTCTAATGCATCCACACACTGCATGTCTGACTGGCGATGCCGCGCTCCTAAGTAGTTCTGCCATGAAACATAAAAGACAAAGGAAAAGCCGTTACACATCACACAGAGAACATTTTCGGGTCCCACAGCGGTGGTGGCAGGAAGCTCACTCTCGCGTCAGTATTAGAGTGTGTGTGTGGGTCTCGGGGATCTCGGTGGCTCCCATCTTCCTTCATTGTTCTGAACATCCTGTATTGTAAACCATGGCTGGGGTGCTAAAGTGCCTGTGAATCCCGATGTGGAAAAAGCTGGAGGTGAAAGCTCAGCATACCATGTATTTACTTTAAAAACAGAAAAAAAGACATGTATGGATATGTCTATTTTTTTTTTATTGGCACATTGTATTTTTGTGTTGACTTGTTTTTAGAAATGATGTGTCCACACACGTACCCGTGTCTCTTCTGCATTTCTGTGTCATGGTTCTGTTTCTTAATCACGTGCGGCGGTGTCTAAGTGGTGTTACCAGTGTACGCGCAGTGACCTTGGATGACAGTGGCTCTTTCTCACAGCCTCCCCTGAGCTGTGAGAAACAGCTTTCTCTGTACATATGCAACTCCTAATAAAAGGCATATTTCTTCCTGTTC)$ . 06BR003 ENSG00000171475.14 ENSG00000188554.14 +/+ +/+ chr17:40219492 chr17:43186250 5'UTR/splice-site CDS/splice-site deletion 0 5 0 39 175 medium . . |Ig-like_domain_from_next_to_BRCA1_gene(100%),PB1_domain(100%),Zinc_finger__ZZ_type(100%) . . ENSG00000171475.14 ENSG00000188554.14 ENST00000323571.9 ENST00000341165.10 downstream upstream . ^(ATTTTGTTCGCGGACGCTGGGGACGGTGGGAGCAGATCCATTTCCGGGTTGGCAAAAGGGGCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGACGGCGAGA)AAGAGCTTGCCGGGGGGCGAGCAGGACAGGACGAAGCCGGAGTGTAGGCGGCAGAGGATTCGCTCCCAGAGCAGCTGCGGCCAG|ATGGCAGTTAAACAGGGAAACCAACTGCAGATGCAAGTCCACGAAGGGCACCATGTCGTTGATGAAGCCCCACCCCCAGTTGTAGGAGCAAAACGACTAGCTGCCAGGGCAGGGAAGAAGCCACTTGCACATTACTCTTCACTGGTGAGAGTCTTGGGATCAGACATGAAGACC(CCAGAGGATCCTGCAGTGCAG___TCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACG___TTCAGAGAACAAGTGGTTAACGAAACGGTTGAGAAGCTTGAACAGAAATTACATGAAAAGCTTGTCCTCCAGAACCCATCCTTGGGTTCTTGTCCCTCAGAAGTCTCAATGCCTACTTCAGAAGAAACATTGTTTTTGCCAGAAAACCAGTTCAGCTGGCATATTGCTTGCAACAACTGCCAAAGAAGGATTGTTGGTGTCCGCTACCAGTGTAG___CCTATGCCCATCCTACAATATCTGTGAAGATTGTGAAGCAGGGCCATATGGCCATGACACTAACCACGTCCTGCTGAAGTTGCGGAGACCTGTTGTGGGCTCCTCTGAACCGTTCTGTCACTCAAAGTACTCTACTCCTCGTCTTCCTGCTGCTCTGGAACAAGTCAG___GCTCCAGAAACAGGTTGATAAGAACTTTCTTAAAGCAGAAAAGCAAAGGTTGCGAGCTGAGAAGAAACAACGTAAAGCAGAGGTCAAGGAACTTAAAAAGCAGCTTAAACTCCATAGGAAAATTCACCTGTGGAATTCAATCCATGGACTCCAGAGCCCCAAGTCTCCTTTAGGCCGACCTGAGAGCTTGCTCCAGTCTAATACCCTGAT___GCTCCCTTTGCAGCCCTGTACCTCCGTTATGCCAATGCTCAGTGCAGCATTTGTGGATGAGAATTTGCCTGATGGGACTCACCTTCAGCCAGGAACCAAGTTTATCAAACACTGGAGGATGAAAAATACAGGAAATGTAAAGTGGAGTGCAGACACAAAG___CTCAAGTTCATGTGGGGAAACCTGACTTTGGCTTCCACAGAAAAGAAGGATGTTTTGGTTCCCTGCCTCAAGGCCGGCCATGTGGGAGTTGTATCTGTGGAGTTCATTGCCCCAGCCTTGGAGGGAACGTATACTTCCCATTGGCGTCTTTCTCACAAAGGCCAGCAATTTGGGCCTCGGGTCTGGTGCAGTATCATAGTAGATCCTTTCCCCTCCGAAGAGAGCCCTGATAACATTGAAAAGGGCATGATCAGCTCAAGCAAAACTGATGATCTCACCTGCCAGCAAGAG___GAAACTTTTCTTCTGGCTAAAGAAGAAAGACAGCTTGGTGAAGTGACTGAGCAGACAGAAGGGACAGCAGCCTGCATCCCACAGAAGGCAAAAAATGTTGCCAGTGAGAGGGAGCTCTACATCCCATCTGTGGATCTTCTGACTGCCCAG___GACCTGCTGTCCTTTGAGCTGTTGGATATAAACATTGTTCAAGAGTTGGAGAGAGTGCCCCACAACACCCCTGTGG___ATGTGACTCCCTGCATGTCTCCTCTGCCACATGACAGTCCTTTAATAGAGAAGCCAGGCTTGGGGCAGATAGAGGAAGAGAATGAAGGGGCAGGATTTAAAGCACTTCCTG___ATTCTATGGTGTCAGTAAAGAGGAAGGCTGAGAACATTGCTTCTGTGGAGGAAGCAGAAGAAGACCTGAGTGGGACCCAGTTTGTGTGTGAGACAGTAATCCGATCCCTTACCTTGGATGCTGCCCCAGACCACAACCCTCCTTGCAGACAGAAGTCCTTGCAGA___TGACATTTGCCTTGCCTGAAGGACCACTTGGAAATGAGAAGGAGGAGATTATCCATATCGCTGAGGAAGAAGCTGTCATGGAGGAGGAGGAGGATGAGGAGGATGAGGAGGAGGAGGATGAGCTCAAAGATGAAGTTCAAAGTCAGTCCTCTGCTTCCTCAGAGGATTACATCATCATCCTGCCTGAGTGCTTTGATACCAGCCGCCCCCTGGGGGATTCTATGTACAGCTCTGCGCTCTCACAGCCAGGCCTGGAGCGAGGTGCTGAAGGCAAGCCTGGGGTTGAGGCTGGGCAGGAACCAGCTGAGGCTGGGGAAAGACTCCCTGGAGGGGAGAACCAGCCACAGGAGCACAGCATAAGTGACATCCTCACGACCTCACAGACTCTGGAAACAGTGCCCCTAATCCCAGAGGTAGTGGAGCTTCCACCGTCACTGCCCAG___GAGCTCTCCTTGTGTACATCATCATGGTTCCCCAGGAGTGGATTTACCAGTTACCATACCAGAAGTTTCTTCAGTCCCTGATCAGATCAGAGGAG___AGCCCAGAGGCTCATCAGGACTTGTAAACAGCAGACAGAAGAGCTATGACCACTCAAG___GCACCATCATGGGAGCAGCATTGCTGGAGGACTGGTGAAGGGGGCTTTGTCTGTTGCTGCCTCTGCATACAAGGCCCTGTTTGCTGGGCCACCAGTCACTGCACAG___CCAATAATTTCTGAAGATCAGACAGCAGCCCTGATGGCCCATCTCTTTGAAATGGGATTCTGTGACAGGCAGCTGAACCTACGGCTGCTGAAGAAACACAATTACAATATCCTGCAGGTTGTGACAGAACTTCTTCAGTTAAACAACAACGACTGGTACAGCCAACGCTATTGAGGAGTGACCTTGTATTAAATAACTGCCTGCTGCTCAGAGATGATCTTTATTCTGTCATTGGGGTATGGGATAGAAGCCCTTGCTTATTTTTAATCTGATGAATCTGTATAGAGCCCATCGTTGAGTTACCAAGACAATACCTGCTACAGTATTTTGGGGAGCAAACTAAAGACCAGAACTTAAATTTTCACTTTAGACATTGGATGAATAGTATGAAGACAGTTTTTCAGTTGATTTGGATAAAACTATTTTAGTGCATTGACAAGTGTAACTTCAACTTCATATAGAACCATTTTTCTTTCTGCTTTTATTGAAACTGAGTATTTTTCTTTGGCTAATGTGGATTTTTTATGGGGATATCTGTTAATTTTCAGGTTTTGAAAGACATTAACCTCGGAAGTTGTTTTTAAGAATTATTCTCATAATTCTTATTCTCATAATTTCTGTAATCCACCTCAAGCTTCATAGTTATTTGGCATTGAAATAACACCCAGAGCATGATAGAAATGTTGTTACTCTTCCTCTCTCAAGGAGAAAGTAATTTTCCTGCAATACTTAATAATTGGCACCGTTGCTTTCTAAAGACTCCATGGTGCATTCAAGAGTATCCAACTTCAAGGGAATCTCCGCATTTCAATGAAAGGAGGAAGAGTGTGCTGATAAACCTACCAGCACCTATTGAGCAATGTCTATTATAGTAATTTTGCATACATTTTTATTTAAGGGAAAAAATATAGGTATTGTGAAATATTTTGCTAATCTTATAGAAAAGGAAAAAATCCCGTTATTTAAAGGGAAAAGTAAATTTAACAGTTGCCTTTTTTCTTAATGTCAGGGCAGATCTTATTTTACAGTACAGTGGGGGAAATAGAAACATGTGAAAGGCAAAAGGCAGGCTCCTAAATTAATGTCAGTGAAGTTCAGGGTGGGCAAATGAGTGTGTGTGAGGTATAGGAAATGCTGATGACTTCTTTAATGCTTGAAGTCCGTTCACAGGTATCTAGCCCTAGAATGCCTAGAACAGGAAGAGGCAGCTGGTGTTCTGCAAAACTTGGACAGGGGCAAAGTTGCTGAAAAAGTTTTGGTTTAACCCGAAGATAAGTGGAAAAGAGCTTGTCCATGAACCCAGGTTCTCACTCTGTTTACAGAAGTGTGTTGAGTACAGTTGGTGAAGGAAGAGGTAACAAAAAATGCTAAATATTTTATCCATGAAAATGACTTCCAGAAAAGGAAGAATATGAACCCCAGACCGAAGGGGAAAAGATAGTTAATAGTATTATCTAACCTGGTTGGTATTTGTAATGAATGGTGATTTTAATTAGTCATTAGCCATAATGATGTTTATTTACAGTATAACTCCTGAATGCTACTTAAATAAACCAGGATTCAAACTGCAAGCCAGCCAGGCCGTTCATTATTTAAAACGTTTTAATCGGGGCTTCCGGGTAGAAGGTGGAGCGGCAGGGTGTAATTGGGTTGATGGGTGGGACCTGTCTTGACCATCGGAGTTTTATAATCGAGGGCCAGGAGGGCCCGGGTTGCTCTCCTGGTTATGTATGTACTTGTACATAACCACCTAAAGAATGGTGAAATAAATGTTCTTGGAAATTCCTAC)$ . 06BR003 ENSG00000078114.18 ENSG00000062725.10 -/- -/- chr10:20896958 chr17:60500487 CDS/splice-site CDS/splice-site translocation 0 5 0 86 81 medium in-frame . LIM_domain(100%),Nebulin_repeat(100%)|Tetratricopeptide_repeat(100%) . . ENSG00000078114.18 ENSG00000062725.10 ENST00000377122.8 ENST00000083182.8 upstream downstream . ^(CTTGAGTGTTAGAGCTGAGTAGTTTTCCCAGAATCTCTAAGTCCTTTTTATGCTCTTTTATGAATGAATAGAATTAGTAAAAGATAAATAAATTTTTTCTTTTGGATTTCTTAACCAGTGGAAAAAATGTTGACTTTAAAAGTTCATAAAATCAAATTTTGCTTAAGAATATGTTATTTCCACTTGTGAGGCCAGCCTGGTAGACCTCTGGGATCCTTTTCTGTTCACTCACACACCACTGAGATAAGGAGTGAAGTGTGGGCTAAATAGGGCTGAGGCTTGGGCAAGGGCATTTCTGCCAGAGCACCAGAGACGTCAGCATCTCAAGGGCACTGTGGTATGGAAAAGGACGCCACATGAGTAAATTTTAAAAATATAAATATTTTAAAGGGTAAAAATGAGGGTCCCTGTATTTGAGGATATAAAAGATGAAACTGAAGAAGAAAAGATAGGGGAAGAAGAAAATGAAGAAGACCAG___GTCTTCTATAAGC)CTGTTATTGAAGACTTAAGCATGGAATTGGCCAGAAAATGCACGGAACTCATTAGCGAT|CTTTACCAACAGGGACGCTTATGTCAACTGGGCAGTGAATTTTGTGAATTGGAAGTTTTTGCTAAAGTACTGAGAGCTTTGGATAAAAG(___ACATTTGCTTCATCATTGTTTTCAGGCTTTGATGGATCATGGTGTTAAAGTTGCTTCAGTCTTGGCCTACTCATTCAGTAGGCGGTGCTCTTATATAGCAGAATCAGATGCTGCAGTAAAGGAAAAAGCCATTCAGGTTGGCTTTGTTTTAG___GTGGCTTTCTTTCAGATGCAGGCTGGTACAGTGATGCTGAGAAAGTTTTTCTGTCCTGCCTTCAGTTGTGTACTCTACACGATGAGATGCTTCATTGGTTTCGTGCAGTAGAATGTTGTGTGAG___GTTGCTTCATGTGCGAAATGGAAACTGCAAATATCATTTGGGTGAAGAAACATTTAAATTAGCTCAGACATATATGGATAAACTATCAAAACATGGCCAGCAAGCAAATAAAGCTGCACTCTATGGAGAACTGTGTGCACTCCTATTTGCAAAAAGTCACTATGATGAG___GCATACAAATGGTGCATCGAGGCAATGAAAGAAATTACAGCAGGCTTACCAGTGAAAGTTGTGGTGGATGTCTTAAGACAAGCTTCTAAG___GCTTGTGTAGTAAAACGTGAATTTAAGAAGGCAGAACAGTTAATTAAACATGCAGTGTATTTGGCACG___GGATCATTTTGGATCCAAACACCCAAAATATTCTGATACACTGCTAGATTATGGGTTCTACTTACTCAATGTAGATAATATCTGTCAGTCTGTTGCAATTTATCAG___GCAGCCCTTGACATTAGACAGTCAGTGTTTGGTGGCAAAAATATCCACGTAGCAACAGCTCATGAAGATTTGGCCTACTCTTCTTATGTCCACCAGTATAGCTCTGGGAAATTTGACAATGCACT___ATTTCATGCAGAAAGAGCTATTGGTATCATTACCCACATCCTACCTGAAGATCATCTTCTTTTGGCTTCTTCAAAGAGGGTGAAAG___CACTTATTTTAGAGGAGATTGCAATTGATTGTCATAATAAGGAAACTGAACAGAGGCTGCTTCAAGAAGCTCATGATTTGCACCTGTCTTCACTCCAACTAGCTAAAAAAGCTTTTGGGGAATTTAATGTACAGACTGCAAAACACTATGGAAACCTTGGAAGACTTTATCAGTCAATGAGAAAATTTAAG___GAAGCTGAAGAAATGCACATCAAAGCAATTCAGATTAAAGAACAACTTCTTGGTCAAGAAGATTATGAAGTAGCCCTTTCAGTGGGACATCTGGCTTCTTTATATAATTATGACATGAATCAGTATGAAAATGCTGAGAAACTTTATTTGCGATCTATAGCAATTG___GGAAGAAACTTTTTGGTGAGGGCTACAGTGGACTAGAATATGATTATCGAGGTCTCATTAAACTTTACAACTCCATTGGAAATTACGAGAAAGTGTTTGAATATCACAATGTTCTGTCTAACTGGAACCGGTTGCGAGATCGGCAATATTCAGTGACAGATGCTCTTGAAGATGTCAGCACCAGCCCCCAGTCCACTGAAGAAGTGGTGCAGTCCTTCCTGATTTCTCAGAATGTCGAGGGACCGAGCTGCTGAGGGAGGACCTCAGTTAACCAATTACCTTTTCCCGGATTCCAGGGAATTCATACTGTGAAATCAAAACCATGTTGTTTTGGGGGGCTGGAATTTGCATTGAAACACTGGTCCAGTCCATTGAAGACCCTATTTTGGGTGATCCCTATCTTGCAGAATGTCTGTAGGAATAAGCATATATTCAGTTATATTCAGCATGTACCGCATGTGTAAGTAGTCTGGCCCACATTTTCAACCTAGTAGAACAAACAACAGGAAATCTTTTTTTTGTTGTTTTTAAAAAATTCATTTTGCAGAAAGCCTGAAAGAAAAAAAATACCCCTAAATAAAACTATTTAAGAGTTTAAAAGAGTTGCATTCTTATTATGTAAGGATGATTTTAACAACTTTTTAATATGTAATTCTTCCATGTGGAGGTATTCAATACTGTAGTGTAAAGAAATTTTATGCGGAAAATCTTTATATGCAGTATAGAAAAGTTAACACAAGTACTAATAAAAGAGGGACATCCCGACTTACGTTTTTCTACCTTGCCCAGATAAGTGGATACAACCACTCTATATTACAAGGAAAGGACTGTCAGATTCATCTGAACTGGACCAGTGTTGATCTGTAATGTAATAGAAAATCTGATAGACCAGCACTTCTGACTTTTTTTTTTTTGGTACAACAATGCAAGATGCTCTGATAGCATTTGCTAACAGGACCAGGAGGATCTAAAAAGGACCAGCCTAATGTAGAAGGTGGTTACTTGGACCAGAGGCTTTAGATTATTATTTTAGATCCTACATATACTTTTATCAGTAGAATGATTTCATTTAGATGTATAATGAAAAAGGATAATGCAAAAATTATGTAATAGATACCAAATTAGGGAAGTTTGGCAATTTCAATGGCATATTTTTAGTCAAGGTACACAGATGGCAGTGCCATAAGCAAGTCTATAAATATCGGCTGCAGCCATCCCCCTCATTTTAAATGTTGCCCTAATAATCAATGCAGTTAACAAGTATATTGGCTGTGTGTCATGAAATAGTTCATGTTCAGATGGAAATGTTAGGTTACTGTATGGTTTATGGAGATTAATGAAAATGAATGCCCAAAAATAAGTCTTAGAAAATCCTCCATTTTTATGGTAAATAGTAATACAACTAGGTCATTTCATTTGAAATCTAGGAGTCAAATGGAAAGATCCCCTAATAATACACCTATTTCACTAACTTGTCTTTCTGTTTATTGGGTTTTGATTTGATTTTTTGTAAGCCAGTCAGGTTATTTAATGATGAGGTAATAATCAAATTTAAGAATTTGTGACATGTAGCAATTCAAGAAACAAAAAGGTATTTTGCTGTTACCTCAATTCTTACTGTAGTAGCCCATCTGATGCTTCTATAGTTAAGAATCTGGGTTCCCCCCCTATTTTCAGGGGTTCATGACTTGGCTGTTAAAGATGTTGCTCCTAGCTAATGCTTGGAGTAGTCTGTGGGTGAATGGATGTGTGTTGAATTTTAGTTTTCTTTTAACATGCATGTTGGGTGAGAGGGGAAAAAAATCTAAGCTGTCTGCCACATTGAGTACAGAAAAGTTGTAGATTTCAAATTTTATTAATATTTTAAGCACTTTTTTGAACTTCCCAACCTTGTTTGAAGCTGTTATTTGCAGTCCTATTAGTTTTGAGCCATTGCATTTAAGTTCCCTAGGAGGGGGTTGGTTGGGGGATGTACTGAAAGAGATGAAGCAAACCCACACCCTAAGATGGTAACTGTGTGATTTAGAAACCTGAGTTTACTCCTCAAATCGAATTATTTTCTTTTTAAATTTTGGAAAGAGTAAATTGACGTACTTGCAGTTTATGAAGCTGCCCCCCACCCCTCAGTTAATTGCAGTCTAATGTCAAGAGGCACTTCTTTATTAATTACCAAATAGTCTTTGTGACCAAGGACTAACATTTTTAAGTTACTCAGCTCTATCCTCATGGGCCTATATATTTAATACCTCCAAAGATATTTTCAGGATAGGCTTTGTATACTTTTATTGGTTATTTAGAATCCAGTGGTATGTTTGTGGTATAGGAATGTCATGGTAAATTGTTTTTCAATAAATATTTTGAAACATGTTTCCATATGAAGTTTTTTTTTCAATCTGTATTTTTTGGTTTTGTGCACATACAGCATTTCCTAGGATAAAAATAAACAAATGACTTACAGCCTCATCCTCCCTAACTCCATTTGAACTCAACTTAGCTCACACTCAGTGATAAAACAACATGGTATGTAGAAGCCTAGGATCACAGGGTGATAATGTCAATTGGCAGCCAGTTGTGTTTTTTTGAAACATCATTATTGGCAGTTTCTCCTTATCACCACTGCTTTAATGTAGTTTTTTTGTAAATCCATATACTTTAATGCATACACTCTAGCTTAAGAAAACATTGCCATTTTGGTTAGGGATATGACTTAATGTGCTATTATTTCTGGTTCTAATGAAGAATAATACCCTATGACTTTAAGTGTAAGATTCATCCTTTAAGTAGGGATGTTTAGGATAAGTTAGATGTGTGCCACTATGATTTATTGGGTTTCTTAAAAATCTTGAAGAAAATAATAAAATTTATCTCACAATAAGTTAACTTGCGCAAACTTTTTACATATGGTGAGGTGCGTAAGGAAGCCCTGGCCAACTTAAAGATTTTTCTGGAGGTTCAGCAAAGTTATGTTAAATTAGGGGCCTTTGGTCTCATCCTTCTCTGACTCTTCTACCCAGTCTTTTCCTAAAGTTCGGTGCTACTCCAGTTGGGTGCATCAGGGAGCTCCGTCAGCACTCGCATGTGTCGCTCAGGTGGCCACTCATGCCTGCATTCCATTTAATAGAGTCAATTGGAATTTTTAGAGCATAATCTTTATGGATCCTCAAAGCTGACTTTGCCAAAGGGATTGAGACCCTTACTACCATCAAATCTCTGTCTCTGCTTGGTTAAAAATTGGCTCACTATTGCTTTGTAGTAACCCCTGCCCAGGTATTTTTTCACTTGTGAAAATAATTTGAGAAAGACCTTTGTTCCTAGCCTGTTGGGAAAAGTTTATAATTTTATGAAAATTAAGTACAGAGGCTGCGATCTTAGAAATAATGAAGGTGCCATTTGGCTGCTCCTTAATAGTGCAGACAGAAAACTGCAGTGAACACATGCCAAAACATGATTGAAGCCTTTGGCTGAAACTTTATACATAGAAATAATGATTTGCTCATAACAGGTATCATTAACTGCCACTTTTTATGTTTTCCCTAGAATTTGTAGCCTTGCTGCTTGCTTTTCTTCTGGGTGGCAAAGTTACTACTGGAAAAACACTATAAGTACAAAGTTTTTGGGGTTTTATCTTTGCTTTAGAAGTGGATGTGTACTTCACCTCTTGGCTGTGGAGGAACTTAGTTGCCAGGAAATTTTTTTTTTTTTTTTCAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGGAGGGCAATGGCACCGTCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCTCCTGCCACCACGCCTGGCTAGGAAATTTTTTGTTGTTAATATGACATTTGGATTAATCTCCAGCTTCAACAGTACTTCTTTTGTCCATAAATCTCAGGAATGTTTTAGGCAGAAAACTGGTTTTACCCTGTTGATAATCAGAAGGAGTGTGCTTTAGGATTTATTGCATAATACTATTCTTTAATTGCAATCCTAGGTATCTATAGCATGAGTGGCCTTAGTGAGTTTGTTGAAGTGCACATGTTTTTCAAGAGTAAAATTTAAGATTAAAAATATATCCTATATATAGATATCTAGAAAACTTGGTTTGTGGTGCACAGTTAAGTGTTGGATCACTAAATAACCATTGCAGGTACCGTTTGTGTAACATTACTCATTTCTGTATATTCCTTTTATGGGAAGATATTTTGCCATGGTAACTAAAACTTTTCAGTTCTACTTTTATGATGTGAATGAATGCTACGTTTTATTAAATATTACCAGGTCAGTACTATTTTTATACTTTATTAAGCAACAGGGGATTTTAGTTTAATAGGCTCAAAATAAAAAGTTCTTAATGGAACAGTTAAAAACAAAACACTAACAATCTTTACGTGAAAATCCCCACTAATAGTGCCACAATAATTTCTATAGAAATATCTAAGGTCATTAAATAGATTTTTGAAGACGGTTCTTCATTGTGTCAGGATGACCTTTCATATCATTCTCACCAACTTGTAGTGCCCACCGTTATTTGTAACTATTAAACCATACTAAGTATGTTTGTAACCAGCATTGTGATATATTCTGTACTTGTATTGCTAAAAATGAATTATTGACCTAATAAATATAGTGTTCCTGCA)$ MRVPVFEDIKDETEEEKIGEEENEEDQVFYKPVIEDLSMELARKCTELISD|LYQQGRLCQLGSEFCELEVFAKVLRALDKRHLLHHCFQALMDHGVKVASVLAYSFSRRCSYIAESDAAVKEKAIQVGFVLGGFLSDAGWYSDAEKVFLSCLQLCTLHDEMLHWFRAVECCVRLLHVRNGNCKYHLGEETFKLAQTYMDKLSKHGQQANKAALYGELCALLFAKSHYDEAYKWCIEAMKEITAGLPVKVVVDVLRQASKACVVKREFKKAEQLIKHAVYLARDHFGSKHPKYSDTLLDYGFYLLNVDNICQSVAIYQAALDIRQSVFGGKNIHVATAHEDLAYSSYVHQYSSGKFDNALFHAERAIGIITHILPEDHLLLASSKRVKALILEEIAIDCHNKETEQRLLQEAHDLHLSSLQLAKKAFGEFNVQTAKHYGNLGRLYQSMRKFKEAEEMHIKAIQIKEQLLGQEDYEVALSVGHLASLYNYDMNQYENAEKLYLRSIAIGKKLFGEGYSGLEYDYRGLIKLYNSIGNYEKVFEYHNVLSNWNRLRDRQYSVTDALEDVSTSPQSTEEVVQSFLISQNVEGPSC* 06BR003 ENSG00000161654.10 ENSG00000146872.17 -/- +/+ chr17:44063801 chr17:62596585 CDS/splice-site CDS/splice-site inversion 3 0 0 204 31 medium out-of-frame . Anticodon-binding_domain(100%)|Protein_kinase_domain(100%) . . ENSG00000161654.10 ENSG00000146872.17 ENST00000591247.6 ENST00000582809.5 upstream upstream . ^(AGCAGTAAATAGCACCGTCCTTGGAAATAGGCAGACTGTTTTTGCTAGTTGTGGAACCGTGGACAAGTTTAGTCTAAAACTTAGTTTATGTAAAAGGAGGACATTGATTCCTACCTCAAAGGGCTGTTAGATGCTCAAGAAGTGACAATACAAATGCCTATGAAGAAACAGGATCAG___GATCCCGCCCCAACCAGCGCCAGGCCACGCCCCGGCGTGTGACGCAAGCACGCTCCGTGCGCGCCGTCGCGTCGCGGCGCTCACTGGGGGCCCGGCTTTCGCCCGCTGCTGCCGCCGCCGCCGCCGGCCGCGGCTGCACTCCCAAGATGGCGGCTCCTCCGGG)CGAGTACTTCAGCGTTGGGAGCCAGGTGTCGTGCCGGACGTGCCAGGAGCAGCGGCTGCAGGGCGAGGTGGTAGCCTTTGACTACCAATCCAAAATGCTGGCTTTAA___AATGTCCCTCTTCCAGTGGAAAGCCCAACCATGCAGACATCTTGCTCATAAACTTACAGTATGTTTCAGAAGTGGAAATAATTAATGACCGAACAGAAACCCCTCCTCCCCTAGCTTCACTCAATGTTAGTAAG|GCATGCATGTAGGGAATACCGGATTCATAAAGAGCTGGATCATCCCAGAATAGTTAAGCTGTATGATTACTTTTCAC(TGGATACTGACTC___GTTTTGTACAGTATTAGAATACTGTGAGGGAAATGATCTGGACTTCTACCTGAAACAGCACAAATTAATGTCGGAGAAAGAGGCCCGGTCCATTATCATGCAGATTGTGAATGCTTTAAAGTACTTAAATGAAATAAAACCTCCCATCATACACTATGACCTCAAACCAG___GTAATATTCTTTTAGTAAATGGTACAGCGTGTGGAGAGATAAAAATTACAGATTTTGGTCTTTCGAAGATCATGGATGATGATAGCTACAATTCAGTGGATGGCATGGAGCTAACATCACAAGGTGCTGGTACTTATTG___GTATTTACCACCAGAGTGTTTTGTGGTTGGGAAAGAACCACCAAAGATCTCAAATAAAGTTGATGTGTGGTCGGTGGGTGTGATCTTCTATCAGTGTCTTTATGGAAGGAAG___CCTTTTGGCCATAACCAGTCTCAGCAAGACATCCTACAAGAGAATACGATTCTTAAAGCTACTGAAGTGCAGTTCCCGCCAAAGCCAGTAGTAACACCTGAAGCAAAG___GCGTTTATTCGACGATGCTTGGCCTACCGAAAGGAGGACCGCATTGATGTCCAGCAGCTGGCCTGTGATCCCTACTTGTTGCCTCACATCCGAAAGTCAGTCTCTACAAGTAGCCCTGCTGGAGCTGCTATTGCATCAACCTCTGGGGCGTCCAATAACAGTTCTTCTAATTGAGACTGACTCCAAGGCCACAAACTGTTCAACACACACAAAGTGGACAAATGGCGTTCAGCAGCGGGTTTGGAACATAGCGAATCCGAATGGATCTGATGAAACCTGTACCAGGTGCTTTTATTTTCTTGCTTTTTTCCCATCCATAGAGCATGACAGCATCGATTCTCATTGAGGAGAAACCTTGGGCAGCTCCGGCCAGGCCTTGTAGGAAAAGGCCCCGCCCGAGGTTCCAGCGTCAACGGCCACTGTGTGTGGCTGCTCTGAGTGAGGAAAAAATTAAAAAGAAAAACTGGTTCCATGTACTGTGAACTTGAAAACTTGCAGACTCAGGGGGGTCCCTGATGCAGTGCTTCAGATGAAGAATGTGGACTTGAAAATACAGACTGGGCTAGTCCAGTGTCTATATTTAAACTTGTTCTTTTCTTTTAATAAAGTTTAGGTAACATCTCCTGAAAAGCTTGTAGCACAAAGGCTCAGCTGGGGATGGTGTTTGACTTCGGAGGAAAAAAGTTGCTATTGCCCGTTAAAGGCACTAGAGTTAGTGTTTTATCCCTAAATAATTTCAATTTTTAAAAACATGCAGCTTCCCTCTCCCCTTTTTTATTTTTGAAAGAATACATTTGGTCATAAAGTGAAACCCGTATTAGCAAGTACGTGGCAATGTTCATTCCAATCAGATGCAGCTTTCTCCTCCGTCTGGTCTCCTGTTTGCAATTGCTTCCCTCATCTCAGTAGGGAAAAAATTGAGTGGGAGTACTGAGATGTGTGGGTTTTTGCCATTGGACAAAGAATGAGGTTAGAAGACTGCAGCTTGGAGTCTCTCTAGGTTTTCAACTATTTCTTCACAATTTGAACACTTGACGGTTGTCCCTTTTAATTTATTTGAAGTGCTATTTTTTTAAATAAAGGTTCATCTGTCCATGCAGTCCTCTTGGATTCTCTGAATGTAGTAACTATGAAGCTATGCCAAAGGTAGGCAGAAAATGGGCTTGGGAGCCAGACACTCCAGGGATCAGTAGTTCCTACCCATAGTCTTTGTGTGCTTGCTAAATGGTGTACATTTCTTGTTAACCACGTTATTAAAACTTGATCAGCACAT)$ MAAPPGEYFSVGSQVSCRTCQEQRLQGEVVAFDYQSKMLALKCPSSSGKPNHADILLINLQYVSEVEIINDRTETPPPLASLNVSK|acm* 06BR005 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 10 30 0 64 264 high . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000369458.8 upstream downstream duplicates(2),low_entropy(1) CCGAGACCTTAGGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG___GGAGACACTCCATCACAGTCACTACTGTCGCCTCAGCTGGGAACATTGGGGAGGATGGAATCCTGAGCTGCACTTTTGAACCTGACATCAAACTTTCTGATATCGTGATACAATGGCTGAAGGAAGGTGTTTTAGGCTTGGTCCATGAGTTCAAAG(AAGGCAAAGATGAGCTGTCGGAGCAGGATGAAATGTTCAGAGGCCGGACAGCAGTGTTTGCTGATCAAGTGATAGTTGGCAATGCCTCTTTGCGGCTGAAAAACGTGCAACTCACAGATGCTGGCACCTACAAATGTTATATCATCACTTCTAAAGGCAAGGGGAATGCTAACCTTGAGTATAAAACTGGAG___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACCA)$ . 06BR005 ENSG00000173335.5 ENSG00000101435.5 -/- -/- chr20:23603621 chr20:23565037 CDS CDS/splice-site deletion/read-through 7 6 1 97 29 high in-frame . . . . ENSG00000173335.5 ENSG00000101435.5 ENST00000376971.4 ENST00000376979.4 upstream downstream duplicates(1),mismappers(2),mismatches(1) ^(AGTGGACGCCAGGGATCTGAAGGGCAAAGGCAAGGGCTGCTGGAGCCTGCATCATGTCGAGTCCGCAGAGGAGGAAGGCTATGCCCTGGGCACTGTCACTGCTTCTCATGGGCTTCCAGCTCCTGGTGACTTATGCCTGGTGTTCTGAAGAGGAAATGGGTGGTAATAATAAAATAGTCCAGGATCCTATGTTCCTCGCCACAGTGGAGTTTGCCTTGAACACTTTCAACGTGCAGA)GCAAGGAGGAGCATGCCTACAGcCTGTTGCGCGTCCTGAGTTCATGGAGGGAGGATAGCATGGACAGAAAG___TGGCGAGGTAAGATGGTGTTCTCCATGAATCTGCAACTGCGCCAAACCGTATGTAGGAAATTTGAAGATGACATTGACAACTGCCCTTTTCAAGAAAGCCTGGAGCTGAACAAC|ACTTTCACCTGCTTCTTCACCATCAGCACCAGGCCCTGGATGACTCAGTTCAGCCTCCTGAACAAGACCTGCTTGGAGGGATTCCACTGAGTGAAACCCACTCACAGGCTTGTCCATGTGCTGCTCCCACATTCCGTGGACATCAGCACTACTCTCCTGAGGACTCTTCAGTGGCTGAGCAGCTTTGGACTTGTTTGTTATCCTATTTTGCATGTGTTTGAG(ATCTCAGATCAGTGTTTTAGAAAATCCACACATCTTGAGCCTAATCATGTAGTGTAGATCATTAAACATCAGCATTTTAAGAAA)$ MSSPQRRKAMPWALSLLLMGFQLLVTYAWCSEEEMGGNNKIVQDPMFLATVEFALNTFNVQSKEEHAYsLLRVLSSWREDSMDRKWRGKMVFSMNLQLRQTVCRKFEDDIDNCPFQESLELNN|TFTCFFTISTRPWMTQFSLLNKTCLEGFH* 06BR005 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 3 0 65 35 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___AT)CTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 06BR005 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 7 4 1 12 19 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismatches(1) CCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAG(GAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 06BR005 ENSG00000068383.19 ENSG00000213514.2(1451),ENSG00000277981.1(2026) +/+ ./+ chr10:132726905 chr10:77736220 CDS/splice-site intergenic duplication 3 2 0 53 4 high out-of-frame . Endonuclease/Exonuclease/phosphatase_family(100%)| . . ENSG00000068383.19 . ENST00000368594.8 . downstream upstream . ^(ACTTGCCCTCAGCCTGAGTCGGCGGCGGCTGCGGGAACTTTCCCAGCGGATCTAATGGCTGCGCGCGGGCCGCTGTGAGGCGCGGCGGCGAGCGACGGGCGCGGGGCCGCGGAGCAGCGAGCGAGCGAGCGAGCGCGAGGCCGGAGCCCCGGCCAGGCCCGGCCGACCCGCCGAGCCCGCGATGCGCCCCGGGGCCGCCCCCCGGCGCAGCTGACGCCCCGCGGCCCCGCGAAGACCCCGGCCGGCCGGTCCCGGAGGAAGCGGCCGCCGCCGCCGCCGCCCAGCCCAGCGCCCGCGCCGCCCGGGCACCATGGCGGGGAAGGCGGCCGCCCCGGGCACCGCGGTGCTGCTGGTCACGGCCAACGTGGGCTCGCTCTTCGACGAC___CCAGAAAACCTGCAGAAGAACTGGCTTCGGGAATTTTACCAG___GTCGTGCACACACACAAGCCGCACTTCATGGCCTTGCACTGTCAGGAGTTTGGAGGGAAGAACTACGAGGCCTCCATGTCCCACGTGGACAAGTTCGTCAA___AGAACTATTGTCGAGTGATGCGATGAAAGAATATAACAGGGCTCGAGTCTACCTGGATGAAAACTACAAATCCCAGGAGCACTTCACG___GCACTAGGAAGCTTTTATTTTCTTCATGAGTCCTTAAAAAACATCTACCAGTTTGACTTTAAAG___CTAAGAAGTATAGAAAGGTCGCTGGCAAAGAGATCTACTCGGATACCTTAGAGAGCACGCCCATGCTGGAGAAGGAGAAGTTTCCGCAGGACTACTTCCCCGAG___TGCAAATGGTCAAGAAAAGGCTTCATCCGGACGAGGTGGTGCATTGCAGACTG___TGCCTTTGACTT)GGTGAATATCCATCTTTTCCATGATGCTTCCAATCTGGTCGCCTGGGAAACAAGCCCTTCCGTGTACTCGGGAATCCGGCACAAGGCACTGGGCTACGTGCTGGACAG___AATCATTGATCAGCGATTCGAGAAGGTTTCCTACTTTGTATTTGGTGATTTCAACTTCCGGCTGGATTCCAAGTCtGTCGTGGAG|CAGAGACGGGGTTTCACCATTGTTGCGGGAAGTCAGGGAACCCAAACGGAGGAACCTGCTGAAGCCATGACAGAAGAACATGGATTATGAAGATTTT MAGKAAAPGTAVLLVTANVGSLFDDPENLQKNWLREFYQVVHTHKPHFMALHCQEFGGKNYEASMSHVDKFVKELLSSDAMKEYNRARVYLDENYKSQEHFTALGSFYFLHESLKNIYQFDFKAKKYRKVAGKEIYSDTLESTPMLEKEKFPQDYFPECKWSRKGFIRTRWCIADCAFDLVNIHLFHDASNLVAWETSPSVYSGIRHKALGYVLDRIIDQRFEKVSYFVFGDFNFRLDSKSVVE|qrrgftivagsqgtqteepaeamteehgl* 06BR005 ENSG00000124215.17 ENSG00000124092.12(3535),ENSG00000124253.11(31923) +/+ ./+ chr20:60006787 chr20:57529187 CDS/splice-site intergenic duplication 1 1 0 12 5 high out-of-frame . Cadherin_domain(100%)| . . ENSG00000124215.17 . ENST00000348616.9 . downstream upstream . ^(AGCCAGTCTTTTGTGTACGTGCAGGACCATGGTGGCTTTAGTTTCTACCCCACCCTTCCTAGGAACTCTACTTGTGGCAAACGTATGTTCAAGCTTACAAGTCAGCCCACCCCACTCTGATAAATGCAAGAAAAGCTGAAAAGGGAGGAGCAAGATGGGATGAAAGCATCTGGGCCAAAGTGACCTGAAAACCTTTAGAGAAGAAGCTGCTGGCTGAGAAGGAGGTGTGTGGCTCCGGTGAGACCACCAGCTTGGAGGACTGGTCATCAGCTGCACGTTCTGGGTCTGTCTTGGGTATTCCCATATGGCCATGAGATCCGGGAGGCACCCCTCGCTGCTGCTGCTTCTAGTGCTGCTGCTGTGGCTGCTGCAG___GTCAGTATCATTGACAGTGTTCAACAGGAAACAGATGATCTTACTAAGCAAACAAAG___GAAAAGATCTACCAGCCTCTACGGCGATCCAAGAGAAGATGGGTTATCACCACCTTGGAGCTGGAGGAGGAAGACCCGGGACCCTTTCCCAAACTCATTGGTGAG___CTGTTCAATAATATGTCTTATAACATGTCACTAATGTATCTAATCAGTGGACCTGGTGTGGATGAATATCCAGAGATTGGTTTGTTTTCTCTAGAAGATCATGAGAACGGAAGGATATATGTTCACCGCCCTGTCGATCGAGAAATGACACCATCTTTCACG___GTTTATTTTGATGTTGTGGAGCGCTCAACAGGAAAAATTGTGGATACATCCTTGATTTTCAACATTAGGATCAGTGATGTGAATGATCATGCACCCCAGTTTCCAGAGAAGGAATTTAACATCACTGTGCAAGAAAACCAATCTGCAG___GGCAACCTATTTTTCAGATGTTAGCAGTCGATTTGGATGAAGAAAACACTCCAAATTCTCAAGTCCTTTACTTCCTCATTTCTCAAACACCATTACTGAAAGAAAGTGGTTTCCGGGTTGATCGCCTTAGTGGAGAAATACGACTCTCTGGCTGCTTAGATTATGAG___ACCGCTCCTCAGTTTACACTGCTAATCAGAGCCAGGGACTGTGGAGAACCGTCACTGTCATCCACGACCACCGTTCACGTGGATGTGCAAGAAGGCAACAACCACAGGCCTGCATTTACCCAGGAGAAC___TATAAGGTTCAGATTCCTGAAGGCCGAGCCAGCCAGGGCGTGTTGCGTCTCCTGGTTCAAGATCGAGATTCTCCATTTACATCAGCTTGGAGAGCAAAATTCAACATATTGCATGGCAATGAAGAGGGGCATTTTGACATTTCGACTGACCCTGAGACCAACGAAGGGATATTAAATGTTATCAAG___CCTTTGGATTATGAGACTCGCCCAGCGCAAAGCCTCATCATTGTCGTGGAGAATGAGGAGAGGCTCGTCTTCTGTGAGAGAGGAAAGCTTCAGCCGCCAAGGAAGGCAGCAGCCAGCGCCACTGTGAGTGTGCAGGTGACAGACGCCAACGACCCACCAGCCTTTCACCCCCAGAGCTTCATTGTCAATAAAGAGGAGGGCGCCAGGCCTGGGACCCTGTTGGGAACTTTTAATGCCATGGATCCAGACAGCCAGATAAG___ATATGAACTGGTTCATGACCCAGCAAATTGGGTCAGCGTCGACAAAAACTCCGGAGTGGTCATCACCGTGGAGCCAATTGACCGAGAATCCCCTCATGTAAATAACAGTTTTTATGTAATCATCATTCACGCTGTTGATGATG___GCTTCCCACCGCAGACTGCTACAGGGACCCTAATGCTCTTCCTGTCTGACATCAATGACAACGTCCCGACTCTCCGGCCACGTTCCCGCTACATGGAGGTCTGTGAGTCTGCTGTGCATGAGCCCCTCCACATCGAGGCAGAGGATCCGGACCTGGAGCCGTTCTCTGACCCATTTACATTTGAATTGGACAATACCTGGGGAAATGCGGAGGACACATGGAAGTTGGGGAGAAATTGGG___GTCAATCAGTTGAACTTTTAACCTTGAGAAGCCTGCCACGTGGTAATTACTTGGTGCCACTCTTCATTGGAGACAAACAGGGACTTTCCCAGAAGCAAACTGTCCATGTAAGGATCTGCCCCTGTGCCAGTGGGCTCACATGTGTGGAGCTTGCAGATGCAGAAGTGGGGCTTCATGTGGGGGCCCTGTTCCCTGTCTGTGCAGCATTTGTGGCTCTGGCAG___TGGCTCTGCTTTTTCTGTTGCGATGCTATTTTGTGCTTGAACCTAAGAGGCATGGATGCTCTGTATCCAATGATGAAGGCCACCAAACACTGGTCATGTATAATGCGGAGAGCAAAGGCACTTCAGCCCAG___ACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAG___GATCTCGAGGAAGTGCCTCCATCTGCAGCGAGTCAGTCAGCCCAAGCACGCTGTGCTCTGGGGAGCTGG___GGTTATGGCAAGCC)CTTTGAGCCAAGAAGTGTGAAAAACATACACTCTACTCCT___GCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAG|ATGCCCAGGTGTGGTGACGGGCCAGCCATGGGTTCCCCCAGTGCCTGCTGTGGAGCTTGGTCACTTGCATCCTCCGG___GTGGTATTGCTTCGTGGTGGGTCCACACTATGAGCTTATCAGGCAATGTGCTCAAAGGAAAGGAAGGCCTTGCGAAGTATGTGGCACAGGTAGGGGCTATACGCATATTACTG MAMRSGRHPSLLLLLVLLLWLLQVSIIDSVQQETDDLTKQTKEKIYQPLRRSKRRWVITTLELEEEDPGPFPKLIGELFNNMSYNMSLMYLISGPGVDEYPEIGLFSLEDHENGRIYVHRPVDREMTPSFTVYFDVVERSTGKIVDTSLIFNIRISDVNDHAPQFPEKEFNITVQENQSAGQPIFQMLAVDLDEENTPNSQVLYFLISQTPLLKESGFRVDRLSGEIRLSGCLDYETAPQFTLLIRARDCGEPSLSSTTTVHVDVQEGNNHRPAFTQENYKVQIPEGRASQGVLRLLVQDRDSPFTSAWRAKFNILHGNEEGHFDISTDPETNEGILNVIKPLDYETRPAQSLIIVVENEERLVFCERGKLQPPRKAAASATVSVQVTDANDPPAFHPQSFIVNKEEGARPGTLLGTFNAMDPDSQIRYELVHDPANWVSVDKNSGVVITVEPIDRESPHVNNSFYVIIIHAVDDGFPPQTATGTLMLFLSDINDNVPTLRPRSRYMEVCESAVHEPLHIEAEDPDLEPFSDPFTFELDNTWGNAEDTWKLGRNWGQSVELLTLRSLPRGNYLVPLFIGDKQGLSQKQTVHVRICPCASGLTCVELADAEVGLHVGALFPVCAAFVALAVALLFLLRCYFVLEPKRHGCSVSNDEGHQTLVMYNAESKGTSAQTWSDVEGQRPALLICTAAAGPTQGVKDLEEVPPSAASQSAQARCALGSWGYGKPFEPRSVKNIHSTPAYPDATMHRQLLAPVEGRMAETLNQ|mprcgdgpamgspsaccgawslassgwycfvvgphyelirqcaqrkgrpcevcgtgrgythit 06BR005 ENSG00000162600.12 ENSG00000233216.1(186482),ENSG00000162600.12(65234) -/- ./- chr1:58506060 chr1:58415485 CDS/splice-site intergenic deletion/read-through 5 1 0 161 8 medium out-of-frame . . . . ENSG00000162600.12 . ENST00000371226.8 . upstream downstream . ^(GTCACCGCTTTCGCTTCTGCTTGA___GTAGTCAAGTGAAAAAATGAGCTTCATCTGTGGATTGCAGTCTGCTGCTAGAAACCATGTTTTCTTCCGATTTAATTCACTGTCTAACTGGAGAAAATGTAACACATTAGCATCCACCTCACGGGGCTGTCATCAAGTACAAGTTAACCATATAGTAAATAAGTATCAGGGACTGGGAGTAAATCAGTGTGACAGGTGGAGTTTTCTGCCTGGAAACTTTCATTTTTATAGTACTTTTAACAACAAAAGAACAGGAGGCCTCTCAAGTACCAAAAGTAAGGAAATTTGGAGGATTACCAGCAAATGTACTGTATGGAATGATGCTTTTTCAAGACAGCTGCTAATAAAAGAAGTTACAGCAGTCCCTAGTCTGTCAGTATTGCATCCTCTAAGCCCTGCTTCCATAAGAGCTATTAGGAATTTCCATACTTCTCCACGGTTTCAAGCTGCTCCGGTTCCTCTCTTGTTGATGATTCTTAAACCAGTACAGAAGTTATTTGCAATCATTGTAGGCAG___GGGCATAAGGAAATGGTGGCAGGCACTTCCTCCTAACAAGAAGGAAGTAGTTAAAGAAAATATAAGGAAGAATAAATGGAAGCTATTCCTTGGTTTGAGTAGTTTTGGATTGCTCTTTGTGGTGTTTTATTTTACTCACCTGGAAGTAAGTCCAATCACAGGAAGGAGCAAGCTACTATTATTGGGGAAAGAACAGTTCAGACTTTTATCGGAACTGGAATATGAAGCA___TGGATGGAAGAATTTAAAAATGATATGCTAACTGAGAAAGATGCCCGATACCTGGCTGTTAAAGAAGTGCTTTGTCATCTAATTGAATGCAATAAAGATGTTCCAGGGATCTCTCAGATCAATTGGGTTATTCATGTGGTTGATTCCCCAATTATTAATGCCTTCGTGCTTCCA___AATGGACAAATGTTTGTTTTCACTGGATTTTTAAATAGTGTAACCGATATTCATCAACTTTCTTTCCTTCTGGGCCATGAAATAGCACATGCAGTACTTGGGCATGCT___GCAGAAAAGGCTGGCATGGTTCATTTGTTGGATTTCCTAGGTATGATTTTCCTCACAATGATTTGGGCCATTTGTCCTCGAGATAGCTTGGCACTTTTGTGCCAGTGGATACAGTCTAAATTGCAGGAG___TATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCCGAAGCTGACAAAATTGGACTACTGCTTGCTGC)AAAG___GCTTGTGCAGACATAAGAGCCAGTTCAGTGTTTTGGCAGCAAATGGAGTTCGTTGATAGCCTGCATGGCCAACCCAAGATGCCAGAATGGTTATCTACACACCCTTCTCATGGCAATCGAGTTGAGTACTTGGATAGACTTATACCTCAG|GATATGCATGTATCCCCAAGGGCAGCCAGGGACTTTGAAAGAGCCCAGTGGAACCTACACCTAAG MSFICGLQSAARNHVFFRFNSLSNWRKCNTLASTSRGCHQVQVNHIVNKYQGLGVNQCDRWSFLPGNFHFYSTFNNKRTGGLSSTKSKEIWRITSKCTVWNDAFSRQLLIKEVTAVPSLSVLHPLSPASIRAIRNFHTSPRFQAAPVPLLLMILKPVQKLFAIIVGRGIRKWWQALPPNKKEVVKENIRKNKWKLFLGLSSFGLLFVVFYFTHLEVSPITGRSKLLLLGKEQFRLLSELEYEAWMEEFKNDMLTEKDARYLAVKEVLCHLIECNKDVPGISQINWVIHVVDSPIINAFVLPNGQMFVFTGFLNSVTDIHQLSFLLGHEIAHAVLGHAAEKAGMVHLLDFLGMIFLTMIWAICPRDSLALLCQWIQSKLQEYMFNRPYSRKLEAEADKIGLLLAAKACADIRASSVFWQQMEFVDSLHGQPKMPEWLSTHPSHGNRVEYLDRLIPQ|dmhvspraardferaqwnlhl 06BR006 ENSG00000260287.4 ENSG00000275954.5(560),ENSG00000274658.1(10020) +/+ ./+ chr17:36329904 chr17:36440126 CDS/splice-site intergenic deletion/read-through 13 25 1 214 164 high out-of-frame . Rab-GTPase-TBC_domain(100%)| . . ENSG00000260287.4 . ENST00000569055.2 . downstream upstream mismatches(4) ^(CAGTTACACACAGGCAGTGGTATCTGTGAGCAGCTCTGTGGACTCAAAGGTTTTCTCCCTGAGAGGCATGACCCAGGCCAGCTGATTCATCAGAATCAG___GATGGACGTGGTAGAGGTCGCGGGCAGTTGGTGGGCACAAGAGCGAGAGGACATCATTATGAAATACGAAAAG___GGACACCGAGCTGGGCTGCCAGAGGACAAGGGGCCTAAGCCTTTTCGAAGCTACAACAACAACGTCGATCATTTGGGGATTGTACA___TGAGACGGAGCTGCCTCCTCTGACTGCGCGGGAGGCGAAG___CAAATTCGGCGGGAGATCAGCCGAAAGAGCAAGTGGGTGGATATGCTGGGAGACTGGGAGAAATACAAAAGCAGCAGAAAG___CTCATAGATCGAGCGTACAAGGGAATGCCCATGAACATCCGGGGCCCGATGTGGTCAGTCCTCCTGAACATTGAGGAAATGAAGTTGAAAAACCCCGGAAGATACCAG___ATC)ATGAAGGAGAAGGGCAAGAGGTCATCTGAGCACATCCAGCGCATCGACCGGGACATAAGCGGGACATTAAGGAAGCATATGTTCTTCAGGGATCGATACGGAACCAA___GCAGCGGGAACTACTCCACATCCTCCTGGCATATGAGGAGTATAACCCG|GGCCTAGGGGATGCCAAATTCCAGGGTCCAGAAAGAGCTTGGGATAAAATGAAACTTCAAGGGGACGGCTTTGACCTGGGCTGAGTCTGTCTGTGCCATCCAACTGGAGTCTCAAGTCCTGAGGCAGGACGTCCAGATGCCCCAGTGCAGGGCCCTCCTGATCAACACCTGCTCCCCTGTACTCATTAGCAACCTCACCCACCCTACTCTCAAAGCACACTTGGC MDVVEVAGSWWAQEREDIIMKYEKGHRAGLPEDKGPKPFRSYNNNVDHLGIVHETELPPLTAREAKQIRREISRKSKWVDMLGDWEKYKSSRKLIDRAYKGMPMNIRGPMWSVLLNIEEMKLKNPGRYQIMKEKGKRSSEHIQRIDRDISGTLRKHMFFRDRYGTKQRELLHILLAYEEYNP|glgdakfqgperawdkmklqgdgfdlg* 06BR006 ENSG00000196683.10 ENSG00000196335.13(33527),ENSG00000227930.1(25664) -/- ./- chr7:22818000 chr7:23866040 CDS/splice-site intergenic duplication 16 16 0 2596 24 high out-of-frame . . . . ENSG00000196683.10 . ENST00000358435.8 . upstream downstream . ^(CTCCTTTCCCTTTCGGATTCC)CGACGCTGTGGTTGCTGTAAGGGGTCCTCCCTGCGCCACACGGCCGTCGCCATGGTGAAGCTGAGCAAAGAGGCCAAGCAGAGACTACAGCAGCTCTTCAAGGGGAGCCAGTTTGCCATTCGCTGGGGCTTTATCCCTCTTGTGATTTACCTGG___GATTTAAGAGGGGTGCAGATCCCGGAATGCCTGAACCAACTGTTTTGAG|ATATGCCTTGCCTCAACAACCATACTGAAGACTCTCTAGGACAAAGACTTATAACTCTTAGTGCCTTCAGCATCTATCCAGTGTTCTACACATAATTTCAATTATGATCAATGTGATTCTTGCCAAGAACCTAGTCTCTTGTGCCTCACTTTCCTTCCTCCTATGTAAAAGAGGAATAACAGTTACACTTTAAAGGGTTGTTGTGAAGATTAAATcAGATAATGCAGGTGAAATGCCTGGTACCCAG MVKLSKEAKQRLQQLFKGSQFAIRWGFIPLVIYLGFKRGADPGMPEPTVLr|yalpqqpy* 06BR006 ENSG00000108344.15 ENSG00000141741.12 +/+ -/- chr17:39988819 chr17:39730291 CDS/splice-site CDS/splice-site inversion 14 15 1 825 622 high in-frame . . . . ENSG00000108344.15 ENSG00000141741.12 ENST00000264639.9 ENST00000394231.8 downstream downstream mismatches(1) ^(AGAAGGCCCAGCGCCGGGAAGGGGTTTGCAGCTGCTCCGTCATCGTGCGGCCCGACGCTATCTCGCGCTCGTGTGCAGGCCCGGCTCGGCTCCTGGTCCCCGGTGCGAGGGTTAACGCGAGGCCCCGGCCTCGGTCCCCGGACTAGGCCGTGACCCCGGGTGCCATGAAGCAGGAGGGCTCGGCGCGGCGCCGCGGCGCGGACAAGGCGAAACCGCCGCCCGGCGGAGGAGAACAAGAACCCCCACCGCCGCCGGCCCCCCAGGATGTGGAGATGAAAGAGGAGGCAGCGACGGGTGGCGGGTCGACGGGGGAGGCAGACGGCAAGACGGCGGCGGCAGCGGCTGAGCACTCCCAGCGAGAGCTGGACACAGTCACCTTGGAGG___ACATCAAGGAGCACGTGAAACAGCTAGAGAAAGCGGTTTCAGGCAAGGAGCCGAGATTCGTGCTGCGGGCCCTGCGGATGCTGCCTTCCACATCACGCCGCCTCAACCACTATGTTCTGTATAAGGCTGTGCAGGGCTTCTTCACTTCAAATAA)TGCCACTCGAGACTTTTTGCTaCCCTTCCTGGAAGAG___CCCATGGACACAGAGGCTGATTTACAGTTCCGTCCCCGCACGGGAAAcGCTGCGTCGACcCCCCTCCTGCCTGAAGTGGAAGCCTATCTCCAACTCCTCGTGGTCATCTTCATGATGAACAGCAAGCGCTACAAAGAG___GCACAGAAGATCTCTGATGATCTGATGCAGAAGATCAGTACTCAGAACCGCCGGGCCCTAGACCTTGTAGCCGCAAAGTGTTACTATTATCACGCCCGGGTCTATGAGTTCCTGGACAAGCTGGATGTGGTGCGCAG|TGAACCCTGCGGCTTCGAGGCGACCTACCTGGAGCTGGCCAGTGCTGTGAAGGAGCAGTATCCGGGCATCGAGATCGAGTCGCGCCTCGGGGGCACAG___GTGCCTTTGAGATAGAGATAAATGGACAGCTGGTGTTCTCCAAGCTGGAGAATGGGGGCTTTCCCTATGAGAAAGAT___CTCATTGAGGCCATCCGAAGAGCCAGTAATGGAGAAACCCTAGAAAAGAT(CACCAACAGCCGTCCTCCCTGCGTCATCCTGTGACTGCACAGGACTCTGGGTTCCTGCTCTGTTCTGGGGTCCAAACCTTGGTCTCCCTTTGGTCCTGCTGGGAGCTCCCCCTGCCTCTTTCCCCTACTTAGCTCCTTAGCAAAGAGACCCTGGCCTCCACTTTGCCCTTTGGGTACAAAGAAGGAATAGAAGATTCCGTGGCCTTGGGGGCAGGAGAGAGACACTCTCCATGAACACTTCTCCAGCCACCTCATACCCCCTTCCCAGGGTAAGTGCCCACGAAAGCCCAGTCCACTCTTCGCCTCGGTAATACCTGTCTGATGCCACAGATTTTATTTATTCTCCCCTAACCCAGGGCAATGTCAGCTATTGGCAGTAAAGTGGCGCTACAAACACTAATGCTAACTAGTGTGTGTTTTTATACGTCCAGTCTGGGAATGTGGGGGGCACAGAAGTCCGGTCAGCCCAGCCTTTGCACCGCCAGGGTGGCTGTGCTGGCTGGGTGGGCTTTCTGGACAGCTACTCCTTAGGTCAGTGAGCTCCTCTGGCATAGCCAAGGCAAGGAAAATGAGTCCCACAGTAGACCCTGCCTCGTCTTTCCCCCACCCTACCCACCACTCTCCTCACTCACAAGGAGGAAATAACCCCATTCTGGTGAGTGGCCTTAGGAATTAGTTCGTTCTAAATAAGAATGATCTGGTCGTCAAAGGGCTCTCAGATCTGAATCCAGCTTCCCGATCTCCCCCAACCCTGAAGCTGGAGAACTGGATGTCTGGCTCCTCATCCAAGCTTTCTGAAGATTCCCAGCCACTCCCTCCAGGAAAAGAGGAATTGAGTGTAAGGTGAGCAGGAAGGGATGGCACAGAGCCACCCCCAGACATAGGCCGGTGCCTAGCTGTTTTCCAAAATATATTTGCAAATGGACAAAGTGGGTGTGGAGAAGGACCCCCCACACTTGCCTCCCCATACAACACCCATTCTCCCCCTGGGTCTTTATTTCATCTTTAAAAAAACAAAACAAAAAAAGTAAAAACTAAACAGAAAA)$ MKQEGSARRRGADKAKPPPGGGEQEPPPPPAPQDVEMKEEAATGGGSTGEADGKTAAAAAEHSQRELDTVTLEDIKEHVKQLEKAVSGKEPRFVLRALRMLPSTSRRLNHYVLYKAVQGFFTSNNATRDFLLPFLEEPMDTEADLQFRPRTGnAASTPLLPEVEAYLQLLVVIFMMNSKRYKEAQKISDDLMQKISTQNRRALDLVAAKCYYYHARVYEFLDKLDVVRs|EPCGFEATYLELASAVKEQYPGIEIESRLGGTGAFEIEINGQLVFSKLENGGFPYEKDLIEAIRRASNGETLEKITNSRPPCVIL* 06BR006 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 10 9 0 56 30 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCT)GTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 06BR006 ENSG00000125686.12 ENSG00000141736.13 -/- +/- chr17:39423327 chr17:39697037 CDS/splice-site intron duplication/5'-5' 6 6 1 80 28 high out-of-frame . . . . ENSG00000125686.12 ENSG00000141736.13 ENST00000394287.7 . upstream downstream duplicates(3) ^(TTTGGGAAGTTCCGTTGGGGAAGATGGCGGCGGCCTCGAGCACCCTTCTCTTCTTGCCGCCGGGGACTTCAGATTGATCCTTCCCGGGAAGAGTAGGGACTGCTGGTGCCCTGCGTCCCGGGATCCCGAGCCAACTTGTTTCCTCCGTTAGTGGTGGGGAAGGGCTTATCCTTTTGTGGCGGATCTAGCTTCTCCTCGCCTTCAGGATGAAAGCTCAGGGGGAAACCGAGG___AGTCAGAAAAGCTGAGTAAGATGAGTTCTCTCCTGGAACGGCTCCATGCAAAATTTAACCAAAATAGACCCTGGAGTGAAACCATTAAGCTTGTGCGTCAAGTCATG___GAGAAGAGGGTTGTGATGAGTTCTGGAGGGCATCAACATTTGGTCAGCTGTTTGGAGACATTGCAGAAGGCTCTCAAAG___TAACATCTTTACCAGCAATGACTGATCGTTTGGAGTCCATAGCAAGACAGAATGG___ACTGGGCTCTCATCTCAGTGCCAGTGGCACTGAATGTTACATCACGTCAGATATGTTCTATGTGGAAGTGCAGTTAGATCCTGCAGGACAGCTTTGTGATGTAAAAGTGGCTCACCATGGGGAGAATCCTGTG___AGCTGTCCGGAGCTTGTACAGCAGCTAAG___GGAAAAAAATTTTGATGAATTTTCTAAGCACCTTAAGGGCCTTGTTAATCTGTATAACCTTCCAGGGGACAA___CAAACTGAAGACTAAAATGTACTTGGCTCTCCAATCCTTAGAACAAGATCTTTCTAAAATGGCAATTATGTACTG___GAAAGCAACTAATGCTGGTCCCTTGGATAAGATTCTTCATGGAAGTGTTGGCTATCTCACACCAAGGAGTGGGG___GTCATTTAATGAACCTGAAGTACTATGTCTCTCCTTCTGACCTACTGGATGACAAGACTGCATCTCCCATCATTTTGCATGAGAATAATG___TTTCTCGATCTTTGGGCATGAATGCATCAGTGACAATTGAAGGAACATCTGCTGTGTACAAACTCCCAATTGCACCATTAATTATGGGGTCACATCCAGTTGACAATAAATG___GACCCCTTCCTTCTCCTCAATCACCAGTGCCAACAGTGTTGATCTTCCTGCCTGTTTCTTCTTGAAATTTCCCCAGCCAATC)CCAGTATCTAGAGCATTTGTTCAGAAACTGCAGAACTGCACAG___GAATTCCATTGTTTGAAACTCAACCAACTTATGCACCCCTGTATGAACTGATCACTCAGTTTGAGCTATCAAAGGACCCTGACCCCATACCTTTGAATCACAACATGAGATTTTATGCT|CCCAGGACCTGGTCAACCTGCCTCTCAGTCCTGCAGCTTACAGCCCTGCGGGAAGAGGATGCGCTGACCTGGCTCCAGGAGTCACTGGTTCATCACACCACACCTTGGAGGGCTTGCACCTGGATGAGTGTGCAGGCAGCCTTAGAGGCCATCGG MKAQGETEESEKLSKMSSLLERLHAKFNQNRPWSETIKLVRQVMEKRVVMSSGGHQHLVSCLETLQKALKVTSLPAMTDRLESIARQNGLGSHLSASGTECYITSDMFYVEVQLDPAGQLCDVKVAHHGENPVSCPELVQQLREKNFDEFSKHLKGLVNLYNLPGDNKLKTKMYLALQSLEQDLSKMAIMYWKATNAGPLDKILHGSVGYLTPRSGGHLMNLKYYVSPSDLLDDKTASPIILHENNVSRSLGMNASVTIEGTSAVYKLPIAPLIMGSHPVDNKWTPSFSSITSANSVDLPACFFLKFPQPIPVSRAFVQKLQNCTGIPLFETQPTYAPLYELITQFELSKDPDPIPLNHNMRFYA|prtwstclsvlqltalreedaltwlqeslvhhttpwractwmsvqaaleai 06BR006 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 3 8 0 12 14 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream inconsistently_clipped(1) GCGCAGCGCAGCCCGCACCCTCCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATG(ACCTTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 06BR006 ENSG00000125686.12 ENSG00000006125.18 -/- +/+ chr17:39415026 chr17:35624397 CDS/splice-site CDS/splice-site inversion 3 8 0 36 141 high out-of-frame . |Adaptin_C-terminal_domain(100%),Adaptin_N_terminal_region(100%),Beta2-adaptin_appendage__C-terminal_sub-domain(100%) . . ENSG00000125686.12 ENSG00000006125.18 ENST00000394287.7 ENST00000621914.4 upstream upstream . ^(TTTGGGAAGTTCCGTTGGGGAAGATGGCGGCGGCCTCGAGCACCCTTCTCTTCTTGCCGCCGGGGACTTCAGATTGATCCTTCCCGGGAAGAGTAGGGACTGCTGGTGCCCTGCGTCCCGGGATCCCGAGCCAACTTGTTTCCTCCGTTAGTGGTGGGGAAGGGCTTATCCTTTTGTGGCGGATCTAGCTTCTCCTCGCCTTCAGGATGAAAGCTCAGGGGGAAACCGAGG___AGTCAGAAAAGCTGAGTAAGATGAGTTCTCTCCTGGAACGGCTCCATGCAAAATTTAACCAAAATAGACCCTGGAGTGAAACCATTAAGCTTGTGCGTCAAGTCATG___GAGAAGAGGGTTGTGATGAGTTCTGGAGGGCATCAACATTTGGTCAGCTGTTTGGAGACATTGCAGAAGGCTCTCAAAG___TAACATCTTTACCAGCAATGACTGATCGTTTGGAGTCCATAGCAAGACAGAATGG___ACTGGGCTCTCATCTCAGTGCCAGTGGCACTGAATGTTACATCACGTCAGATATGTTCTATGTGGAAGTGCAGTTAGATCCTGCAGGACAGCTTTGTGATGTAAAAGTGGCTCACCATGGGGAGAATCCTGTG___AGCTGTCCGGAGCTTGTACAGCAGCTAAG___GGAAAAAAATTTTGATGAATTTTCTAAGCACCTTAAGGGCCTTGTTAATCTGTATAACCTTCCAGGGGACAA___CAAACTGAAGACTAAAATGTACTTGGCTCTCCAATCCTTAGAACAAGATCTTTCTAAAATGGCAATTATGTACTG___GAAAGCAACTAATGCTGGTCCCTTGGATAAGATTCTTCATGGAAGTGTTGGCTATCTCACACCAAGGAGTGGGG___GTCATTTAATGAACCTGAAGTACTATGTCTCTCCTTCTGACCTACTGGATGACAAGACTGCATCTCCCATCATTTTGCATGAGAATAATG___TTTCTCGATCTTTGGGCATGAATGCATCAGTGACAATTGAAGGAACATCTGCTGTGTACAAACTCCCAATTGCACCATTAATTATGGGGTCACATCCAGTTGACAATAAATG___GACCCCTTCCTTCTCCTCAATCACCAGTGCCAACAGTGTTGATCTTCCTGCCTGTTTCTTCTTGAAATTTCCCCAGCCAATCCCAGTATCTAGAGCATTTGTTCAGAAACTGCAGAACTGCACAG___GAATTCCATTGTTTGAAACTCAACCAACTTATGCACCCCTGTATGAACTGATCACTCAGTTTGAGCTATCAAAGGACCCTGACCCCATACCTTTGAATCACAACATGAGATTTTATGCT___GCTCTTCCTGGTCAGCAGCACTGCTATTTCCTCAACAAGGATGCTCCTCTTCCAGATGGCCGAAGTCTACAGGGAACCCTTGTTAGCAAAATCACCTTTCAGCACCCTGGCCGAGTTCCTCTTATCCTAAATCTGATCAGACACCAAGTGGCCTATAACACCCTCATTGGAAGCTGTGTCAAAAGAACTATTCTGAAAGAAG___ATTCTCCTGGGCTTCTCCAATTTGAAGTGTGTCCTCT)CTCAGAGTCTCGTTTCAGCGTATCTTTTCAGCACCCTGTGAATGACTCCCTGGTGTGTG___TGGTAATGGATGTGCAGGACTCAACACATGTGAGCTGTAAACTCTACAAAGGGCTGTCGGATGCACTGATCTGCACAGATGACTTCATTGCCAAAGTTGTTCAAAG|GTGGTGGCTAATGCCGTAGCGGCATTATCTGAAATCAGTGAGTCTCACCCAAACAGCAACTTACTTGATCTGAACCCACAGAACATTAATAAGCTGCTGACAGCCCTGAATGAATGCACTGAATGGGGCCAGATTTTCATCCTGGACTGCCTGTCTAATTACAACCCTAAAGATGATCGGG(AGGCTCAGAG___CATCTGTGAGCGGGTAACTCCCCGGCTATCCCATGCCAACTCAGCAGTGGTGCTTTCAGCGGTAAAAGTCCTAATGAAGTTTCTAGAATTGTTACCTAAGGATTCTGACTACTACAATATGCTGCTGAAGAAGTTAGCCCCTCCACTTGTCACTTTGCTGTCTGGGGAGCCAGAAGTGCAGTATGTCGCCCTGAGGAACATCAACTTAATTGTCCAGAAAAG___GCCTGAAATCTTGAAGCAGGAAATCAAAGTCTTCTTTGTGAAGTACAATGATCCCATCTATGTTAAACTAGAGAAGTTGGACATCATGATTCGTTTGGCATCTCAAGCCAACATTGCTCAG___GTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAG___CAATCTGCAGAGCGCTGTGTAAGCACATTGCTTGATCTAATCCAGACCAAAGTGAATTATGTGGTCCAAGAAGCAATTGTTGTCATCAGGGACATCTTCCGCAAATACCCCAACAA___GTATGAAAGTATCATCGCCACTCTGTGTGAGAACTTAGACTCGCTGGATGAGCCAGATGCTCGAGCAGCTATGATTTGGATTGTGGGAGAATATGCTGAAAGAATTGACAATGCAGATGAGTTACTAGAAAGCTTCCTGGAGGGTTTTCACGATGAAAGCACCCAG___GTGCAGCTCACTCTGCTTACTGCCATAGTGAAGCTGTTTCTCAAGAAACCATCAGAAACACAGGAGCTAGTCCAGCAGGTCTTGAGTTTGGCAACACAG___GATTCTGATAATCCTGACCTTCGAGACCGGGGCTATATTTATTGGCGCCTTCTCTCAACTGACCCTGTTACAGCTAAAGAAGTAGTCTTGTCTGAGAAGCCACTGATCTCTGAGGAGACGGACCTTATTGAGCCAACTCTGCTGGATGAGCTAATCTGCCACATTGGTTCTTTGGCCTCTGTGTATCATAAGCCTCCCAATGCTTTTGTGGAAGGAAGTCATGGAATTCATCGTAAACACTTGCCAATTCATCATGGGAG___CACTGATGCAGGTGACAGCCCTGTTGGCACTACCACTGCAACGAACCTGGAACAGCCTCAGGTTATCCCCTCTCAAGGTGATCTTCTAGGGGATCTTTTAAACCTTGACCTCGGTCCCCCAGTCAATGTGCCACAGGTGTCCTCCATGCAGATGGGAGCAGTGGATCTCCTAGGAGGAGGACTAGATAGTCTG___GTGGGACAATCCTTCATCCCATCATCGGTGCCTGCAACCTTTGCTCCTTCACCTACACCTGCTGTGGTCAGCAGTGGACTGAATGACCTGTTTGAACTCTCCACAGGGATAGGCATGGCACCTGGTGGATATGTGGCTCCTAAGGCT___GTCTGGCTACCTGCAGTAAAGGCTAAAGGCTTGGAGATTTCCGGAACATTTACTCACCGCCAAGGGCACATCTATATGGAAATGAACTTCACCAATAAAGCTCTGCAGCACATGACAGATTTTGCAATCCAGTTTAACAAAAATAG___CTTTGGTGTCATCCCCAGCACTCCTCTGGCCATCCATACACCACTGATGCCAAACCAGAGCATTGATGTCTCCCTGCCTCTCAATACCTTGGGCCCAGTCATGAAGATGGAACCTCTGAATAACCTCCAG___GTGGCTGTGAAAAACAATATCGATGTCTTCTACTTCAGCTGCCTCATCCCACTCAATGTGCTTTTTGTAGAAGATGGCAAAATGG___AGCGCCAGGTCTTCCTTGCAACATGGAAGGATATTCCCAATGAAAATGAACTTCAGTTTCAGATTAAGGAATGTCATTTAAATGCTG___ACACTGTTTCCAGCAAGTTGCAAAACAACAATGTTTATACTATTGCCAAGAGGAATGTGGAAGGGCAGGACATGCTGTACCAATCCCTGAAGCTCACTAATGGCATTTGGATTTTGGCCGAACTACGTATCCAGCCAGGAAACCCCAATTACACG___CTGTCACTGAAGTGTAGAGCTCCTGAAGTCTCTCAATACATCTATCAGGTCTACGACAGCATTTTGAAAAACTAACAAGACTGGTCCAGTACCCTTCAACCATGCTGTGATCGGTGCAAGTCAAGAACTCTTAACTGGAAGAAATTGTATTGCTGCGTAGAATCTGAACACACTGAGGCCACCTAGCAAGGTAGTAACTAGTCTAACCTGTGCTAACATTAGGGCACAACCTGTTGGATAGTTTTAGCTTCCTGTGAACATTTGTAACCACTGCTTCAGTCACCTCCCACCTCTTGCCACCTGCTGCTGCTATCTGTCCTTACTTGTGGGCTTCTCCATGCTGTGCCAATGGCTGGCTTTTTCTACACCCTCTTTTGAGTGTAGTTTGGTATTTTGTAATTGAGAGCTCATTTCAAAAGCAGAAAAAGACAACAAATATTAAAGCAAGGAAAAGTGTAACTGAAACACTGCACTTTACTGTTTTATACTTTTGTACATATGAGAAATCAAGGGATTAGTGCAACCAGTAGAAAGCATTGAAATGACTGTCATTAACCACACAGTCCTGGAGGCAGAGATGCAGTTACCTACCCTAGCTTTTGATGGGTTCTCTTACCTGTAGTAGCCTTATCCCTGGTCATTTGGATTTTCAGTTTGCTTTTTTCTTTTTTTCCCCTCCAAACTCCTTTTCCTTGGCCAAGCCTTCATGCTTCCCCCTTTCCATATTATAATCTCATTTGATTGCTCTGCAGTTGGGAACGGTGATCTTCTTGAATGATGTTTCAGTGTGCAAAAACTATAGAGCCTGTCAGCACCAAAGCTGACAGAAGTTATACCTTACTCCTTTCCTTTCCCCTGAACAAACCTGCTAATCCCACTAATTCAGGAATTTGAGTAGAGATGGGGAACAAGAACCCAGATGCTGTCCCCTCACCCCCTCTCCTGTATTTCTCAGGTCCAGTTCAAATCTAAAATTCTACTTTTAGAGTTGAAACAGAGTAATAACTTATCTAACCCTCTTTTCCTACAAAGGAGAAAGATAAAAGGCACAAAGGTTACCGCCAAGGCCCGTCAGCTGTGTAGTGGCAAAGCCGAGACCGAGTCTCCTAAGTCCCCGTCAGTGTGGTTTTCACCACAGGACTGTCTCTTGTCGTTTTCCCCTAATGCCTTCTCCTGCCTTTTCTGTGCCTAGTTTTTGGCTCTTCACATATTCCATATTGATTTTGACGCTCTGTATATTGGCATCAGGTGGCAGCTGAATATCTTTTGAATTACTCGAAGGTAAAGCCAGATGCCAGAATGAAGGTGTAGCCAGTGTTTCCCATATGCCCCTGGAGCCCCACTTATTGAGGCCAGCAGAATAGGTGCAGAGATGAAGTGAGCTTAGAGATGTTGCAAATGCTCTTTATCCCTTCAGCTCTCTGATCTGCTCTTTCTTCATGATACTTAGTCTGCAGGGCATATTAAGATCATCCCAGAGGTTCAGGCAGTTCCTGTCATCTCTGAAAAGACTGGGGGATATGAAATCTTCCCCCTACCCCACTTAATGCGTTGGATATGATTTTTCAAAGAATGCTTCATGCCCAAAATACCAGCCTGTTTAGCAGTGTTACACTGTTTGATCTGCGGGCACTTGTTGCATTGCCTGGCACCCAATATTCAGGGTCCATGACTAAGACTGGTCTTCTCAGATGCCCTGCTTAAATCAGGGGCACTTCAGGCTCCACAGGCGTCATGTTGGACTGAGACCTAACTCACTGGACTCAGAGGAGGAATCGTGGAAAACAAGAGCAAAACTACCCCACACCCCTATTTCATGTCTGAAATAACCCTGTTTCATACCAGTTGCAAAGCTTGTGGGGAGCGGTCCCACAAAGCACTTTCTTAAACCTTGAGAATCTCCAAGAGAAAAATATTTGGGGAAGGAGGGAGGAAATATGTCCCTTGCACACCACCCCTGAAGCACATGGCAGTAGGAAACAGCATAGGATTGTATGTGGGAGGTGGATAGGTCGGTGATGTGTGGAGCGGAAAAGCAGGTTGGTAAAGTTCCCTTCTTGGGACTTATTCCTGGAGTCAGTGGATACAAGTAGTGCAGAAGGTTCACACTGCAAATAGTGTTCTCATCTCAAAGCAAACTATCATTCCAGAAGGAAAAGTGTGTCAGGGCAAGCAGACAACACAATTTCCTATCAGAATATGTCCCTCAACCCCCGAAACAAGGCTTCTCTCAGCCTCCCCACCAGTGATGGATAACAGCTCCTATTCTCAGCTGACCTGACTGAGCCAACCCATGAACTCTTCACTCCTTGGGGAAGCCACCTCCCATCACACCCCTGAGCAGAGTTAGGGAGGAATTCTACTTCCCATAAAAGGACCTCTCCTGAGAGGCAAAACCTGTTGCCTCCACCACGGCTTCCCTCTTGGCTCATTCCAAGCTTGGCCAAATTGGGGAAGTGGGATGGAGGTTGCCCTGCATCCCCCCTCCTCTGCCTGAGTGTGTCTTTGTAATGTCAGCTGGCATCATACAAAGAGCAGGAGAAGCAAACACCCAGAACTCTTTTGCTGGTCAGAGATTCCCTGAGTGTCTGTCCTCACCCAAGCCTGCTCTGTGTCTGTGTTGTGAAGCTTGAGACTCTGGAAAGAAATGGGGAGGGGGGGCAGGGGAAATGTTGCCCTAAGAATGCTTCTCATTCCTCTGTTCTTATTGGGTCCTGTTTTTCGGGAGGGTGGGGGTTGGGGGAAGCTTGACCTTGTGTCTTCGTCAATAAACTCACATTTACAC)$ MKAQGETEESEKLSKMSSLLERLHAKFNQNRPWSETIKLVRQVMEKRVVMSSGGHQHLVSCLETLQKALKVTSLPAMTDRLESIARQNGLGSHLSASGTECYITSDMFYVEVQLDPAGQLCDVKVAHHGENPVSCPELVQQLREKNFDEFSKHLKGLVNLYNLPGDNKLKTKMYLALQSLEQDLSKMAIMYWKATNAGPLDKILHGSVGYLTPRSGGHLMNLKYYVSPSDLLDDKTASPIILHENNVSRSLGMNASVTIEGTSAVYKLPIAPLIMGSHPVDNKWTPSFSSITSANSVDLPACFFLKFPQPIPVSRAFVQKLQNCTGIPLFETQPTYAPLYELITQFELSKDPDPIPLNHNMRFYAALPGQQHCYFLNKDAPLPDGRSLQGTLVSKITFQHPGRVPLILNLIRHQVAYNTLIGSCVKRTILKEDSPGLLQFEVCPLSESRFSVSFQHPVNDSLVCVVMDVQDSTHVSCKLYKGLSDALICTDDFIAKVVQr|wwlmp* 06BR006 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 5 6 0 27 16 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream inconsistently_clipped(1),mismatches(1) GAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAG(GAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 06BR006 ENSG00000204913.6(4413),ENSG00000167914.12(4116) ENSG00000278540.5 ./- -/- chr17:39949147 chr17:37253036 intergenic CDS/splice-site deletion 1 4 0 8 119 high . . |Acetyl-CoA_carboxylase__central_region(100%),Biotin-requiring_enzyme(100%),Biotin_carboxylase_C-terminal_domain(100%),Carboxyl_transferase_domain(100%) . . . ENSG00000278540.5 . ENST00000616317.5 upstream downstream duplicates(1) CTTTCTCAAGTGCATCACCAGCTCCCTGCTTCTGAGAATGGACACTCCAAGATTTGAACTTTTCTGCAG|AAACATGGTGGTGGCTTTGAAGGAGCTGTCTATTCGGGGTGACTTTCGAACTACAGTTGAATACCTGATCAAATTGTTAGAGACTGAAAGCTTTCAGATGAACAGAATTGATACTGGCTGGCTGGACAGACTGATAGCAGAAAAAGTACAG___GCTGAGCGACCTGACACCATGTTGG(GGGTTGTGTGTGGTGCCCTCCACGTGGCAGATGTGAGCCTGCGGAATAGCGTCTCTAACTTCCTTCACTCCTTAGAAAG___GGGTCAAGTCCTTCCTGCTCATACACTTCTGAATACAGTAGATGTTGAACTTATCTATGAGGGAGTCAAGTATGTACTTAAG___GTGACTCGACAGTCCCCCAACTCCTATGTGGTGATCATGAATGGCTCATGTGTAGAAGTAGATGTACATCGGCTGAGTGACGGTGGACTGCTCTTGTCCTATGATGGCAGCAGTTATACTACGTATATGAAAGAGGAAGTGGATAG___ATATCGCATCACAATTGGCAATAAAACCTGTGTGTTTGAGAAGGAAAATGACCCATCGGTGATGCGCTCACCTTCTGCTGGGAAGTTAATCCAGTACATTGTAGAAGATGGAGGTCATGTGTTTGCCGGCCAGTGCTATGCTGAGATTGAG___GTAATGAAGATGGTAATGACCTTAACAGCTGTGGAGTCTGGCTGTATCCATTACGTCAAGCGACCTGGAGCAGCTCTTGACCCTGGCTGTGTACTAGCCAAAATGCAACTGGACAACCCCAGCAAGGTTCAGCAG___GCTGAACTTCACACAGGTAGTCTGCCACGGATCCAGAGCACGGCACTCAGAGGCGAGAAACTCCATCGAGTGTTCCATTATGTCCTGGATAATCTGGTCAATGTAATGAATGGATACTGCCTTCCAGATCCTTTCTTTAGCAGCAAG___GTAAAAGACTGGGTAGAGCGATTGATGAAAACCCTCAGAGATCCCTCCCTGCCTCTCCTAGAATTGCAAGATATTATGACCAGTGTGTCTGGCCGCATTCCCCCCAATGTGGAGAAGTCTATCAAGAAGGAAATGGCTCAGTATGCTAGCAACATCACATCAGTCCTCTGTCAGTTTCCCAGCCAGCAG___ATTGCAAACATCCTAGATAGCCATGCAGCTACATTGAACCGGAAATCTGAACGGGAAGTCTTCTTTATGAATACTCAGAGCATTGTTCAGCTGGTACAGAG___GTACCGAAGTGGCATCCGAGGCCACATGAAGGCTGTGGTGATGGATCTGCTCCGGCAGTACCTGCGAGTAGAGACACAATTCCAGAATG___GTCACTATGACAAATGTGTATTCGCCCTCCGAGAAGAGAATAAAAGTGACATGAACACTGTACTGAACTACATCTTCTCTCACGCTCAAGTCACCAAGAAGAATCTTCTGGTCACAATGCTTATT___GATCAGTTGTGTGGCCGGGACCCTACTCTCACTGATGAGCTGCTGAATATTCTCACAGAGCTAACTCAACTCAGTAAGACCACCAATGCCAAAGTAGCACTTCGAGCACGCCAG___GTTCTTATTGCCTCCCATTTGCCATCATATGAGCTTCGCCATAACCAAGTAGAGTCTATCTTCCTATCAGCTATTGACATGTATGGACATCAATTTTGCATTGAGAACCTGCAG___AAACTCATCCTATCAGAAACATCTATTTTTGATGTCCTACCAAACTTCTTCTATCACAGCAACCAAGTAGTGAGGATGGCAGCTCTGGAG___GTGTATGTTCGAAGGGCTTATATTGCCTATGAACTTAACAGCGTACAACACCGCCAGCTTAAGGACAACACCTGTGTGGTGGAATTCCAGTTCATGCTGCCCACATCTCATCCAAACAG___AGGGAACATCCCTACGCTAAACAG___AATGTCCTTCTCCTCCAACCTCAACCACTATGGCATGACCCATGTAGCTAGTGTCAGCGATGTACTGTTGGACAACTCATTCACTCCACCTTGTCAGCGGATGGGCGGAATGGTCTCTTTTCGGACTTTTGAAGATTTTGTCAG___GATCTTTGATGAAGTGATGGGCTGCTTCTCTGACTCCCCACCCCAGAGTCCCACATTCCCTGAGGCAGGTCACACGTCTCTTTATGATGAGGATAAG___GTTCCCAGGGATGAACCAATTCACATTCTCAATGTGGCTATCAAGACTGACTGTGATATTGAGGATGACAGGCTGGCAGCTATGTTCAGAGAATTTACCCAGCAAAAT___AAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAG___GATTTCAGAAAGCAGGTCAACTATGAGGTGGATCGGAGATTTCAT___AGAGAATTCCCTAAATTTTTTACATTCCGAGCAAGGGATAAG___TTTGAGGAGGATCGTATCTATCGTCATCTGGAGCCTGCTCTGGCTTTCCAGTTAGAGCTGAACCGGATGAGAAATTTTGACCTCACTGCCATTCCATGTGCTAATCACAAGATGCACCTGTATCTCGGGGCAGCCAAGGTGGAAGTGGGCACAGAAGTGACAGACTACAGGTTCTTTGTTCGTGCAATCATCAGGCATTCTGATCTGGTCACCAAG___GAAGCTTCTTTTGAATATCTGCAAAATGAAGGGGAGCGGCTACTCCTGGAAGCCATGGATGAGTTGGAAGTTGCTTTTAACAATACAAATGTCCGCACTGACTGTAACCACATCTTCCTCAACTTTGTGCCCACGGTTATCATGGACCCATCAAAG___ATTGAGGAATCCGTGCGGAGCATGGTAATGCGGTATGGAAGTCGCCTGTGGAAATTGCGCGTCCTCCAGGCAGAACTGAAAATCAACATTCGCCTGACGCCAACTGGAAAAGCAATTCCCATCCGCCTCTTCCTGACAAACGAGTCTGGCTATTACTTGGATATCAGCCTATACAAGGAAGTGACTGACTCCAGGACAGCACAG___ATCATGTTTCAGGCATATGGAGACAAACAGGGACCACTGCATGGAATGTTAATCAATACTCCATATGTGACCAAAGACCTGCTGCAATCAAAGAGGTTCCAGGCACAATCCTTAGGGACAACATACATATATGATATCCCAGAGATGTTTCGGCAG___TCCCTGATCAAACTCTGGGAGTCTATGTCCACTCAAGCATTTCTTCCATCTCCCCCTCTGCCTTCTGACATGCTGACTTACACTGAACTGGTACTGGATGATCAAGGTCAGCTGGTCCACATGAACAGGCTTCCAGGAGGAAATGAG___ATTGGCATGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGAGATATCATTGTTATTGGCAATGACATCACATACCGAATTGGGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTTGCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCAACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCATGTGGCCTGGGTAGATCCTGAGGATCCTTACAAG___GGATACAGGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAACTCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCAG___GTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAGAACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCATTGGCCTATAATGAGATCATTACCATCAGCCTG___GTGACGTGCCGGGCCATTGGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCATCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAACAAA___GTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGCTGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTGTGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGCTGTCTTACATGCCCAAG___AGCGTGCACAGTTCAGTTCCTCTTCTGAACTCAAAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAAAGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAA___CCCAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGATCTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGAGCCAG___GCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAGAAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGATTCTGAAGCCAAG___ATAATCCAGCAGGCTGGCCAGGTTTGGTTCCCAGATTCTGCGTTTAAGACGTATCAGGCCATCAAGGACTTCAACCGGGAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCTTCTCTGGTGGAATGAAAG___ATATGTACGACCAAGTGCTGAAGTTTGGTGCTTACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGCTGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTGATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATGCTGACCGAGAAAGCAG___GGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAAATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTCGGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGG___GGACCCCAGAGCTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGAAGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAGTTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGAAGGGTGTTATTAGC___GATATCCTGGATTGGAAAACATCCCGTACCTTCTTCTACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCAAGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAAGCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAGTGAAG___GCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAGAAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAGAGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGCAG___CTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCATCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATACGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAGAGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGCCTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAGACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTATGCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCCAGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGCCTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGAAAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCCCTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAAGCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCATGAGCCGCAGCCACAGGCAGCAGAGGAGGGCTAAGGAGAGGAGGAAGCCTCAAGTCCATTGTTTATTACCCCGACTCTTAGCCCAGCACACAGTAGGCACTGGAGAGGAATGATTCCCAGTTTAACCACACTACGGTACCTTTTATGAAGAAAAATTAGAGCATAAAATCTACTACAAGCTCCATAGGAACTCAAAGATGAGGGCAAAACTGTGAGCCAAGAAGCAGAGAAAGAAAATAGAACCAGTTATTCTTGATTTAGGGGACCTCAACCTTGGGTTCAGTCTCTGAGGACAAAGGGAAAGGTAGTTGTTGGCCTGCCTCTCGCCTGCACGTCACTGCTGGACTAGCTGTCGCATGTGGCTGGGAGCTGCAAGGCCAGTGCTTGAGGGGCCCCAGCAGTTCCACAGGTGGTGAAGCCTGAGTTGGCAGAGGAGGAGCCAGAAGAGAACTGCCCTTTCTGCACTGGTGGAAACTAGTTATTTATGCCATGTGGAGAGCCAGTGAGATAGATAGATAGTCTGTTTGTTTTGAGGACTTGGAAAGTTGTTCCTATGAAGCCTGGAGCTTGGATGGTTTTGAGAGGTTAATGGTGCCTCCACACTCACTCTTCCCTAGTTCCAGGATTACTGTCCTAGCAGCTAACGGTTCTACTCTCTTCCCCAGAGTGTAGACAGGCAGCAGGTCTCCCCACAGCTCTGAAAGGACCCTGGTGACAGCTACACCCTCAGCACCAGGAGCTGGCCTTCCTGATGAGGGAGGCTTCCAGGAAACACAGAATCCACATGACCTTAAGATTATTTACAACTCAGTCATGGTGCTGCTGTCCTCCAGGCTTACTGGCCCCTCCTGACTGGCATCAGGGGCTTCCTCAGGTGGTGGAGAGAGTTTACTTTCAACAACTAGTTTATTCAAGAAAAGAACTTACTGATTCCTCTGTTCCTAAAGCAAGAGTGGCAGGTGATCAGGGCTGGTGTAGCATCCGGTTCCTTTAGTGCAGCTAACTGCATTTGTCACTGATGACCAAGGAGGAAATCACTAAGACATTTGAGAAGCAGTGGTATGAACGTTCTTGGACAAGCCACAGTTCTGAGCCTTAACCCTGTAGTTTGCACACAAGAACGAGCTCCACCTCCCCTTCTTCAGGAGGAATCTGTGCGGATAGATTGGCTGGACTTTTCAATGGTTCTGGGTTGCAGGTGGGCACTGTATGGCTGGGTATGGAGCGGACAGCCCCCAGGAGTCAGAGCCTCAGCCCGGCTGCCCTGGTGGAAGGTACAGGTGTTCAGCACCTTCAGAAAAGGGCATAAAGTGGTGGGGGACAATTCTCAGTCCAGGAAAATGCATTGACCATTGCTGGCTATTTGCTTACCTAGTAAGAATTGGATTCATTTTTGACCAGATTATTCTTCTATGCTTTTTTGCAATAAATCAAATCCCACATATCTACAAGTGGTATGAAGTCCTGCACCCCCCAGGAGGCCTGTCCAGGCATGTCTTCAGAGGCAGGGTGGGTTACACTCATTTACCTCCCCTCTCCCCACCAAATTATGACACAAACGAGTATGTTTCCTCTCTAGAACCCTGTAATGCCTCCTCCCCCATCCCCAGAGCTCCTTACTGTAGGTCTTACCCTGGACAAGGATTTTTTCAAGTTGGAGGCACAGAACATGAGCAATCTGACATTCCCACAGCCCCTCAAACATGCAAGGCTACTAAGGCAGGAGGAGTATAAATGATGGATATTGACCAAGACCTGCTTGGACGGAGACCGCCATATTATCTGTTCTCTTCGTTCACAAAACAGCCTTCACTTGTCTCAGAATTTGATGGACACATACTGTGATGAGCAGGAGCTTCAGATGCACTCTTTACACATTTTGTTGAAATAAACCTCTACATTTGTAGAAGA)$ . 06BR006 ENSG00000080546.13 ENSG00000164494.12 -/- -/- chr6:108990645 chr6:107274227 CDS/splice-site CDS/splice-site deletion 2 1 0 62 20 high in-frame . PA26_p53-induced_protein_(sestrin)(100%)|Polyprenyl_synthetase(100%) . . ENSG00000080546.13 ENSG00000164494.12 ENST00000436639.6 ENST00000369037.9 upstream downstream . ^(GATTGCCAGGGCCGCCCTGTGCCCTCTGGCTCGGCGGTGGTGGGCGAGGGCTCAGGGATCGGAGAAGTAGCGTCTTCCCGGGGGTGCCGAATTGGCGGGGCTGGGGGACGCTTTTTTTCACCGCCGCCCGCCGAGACTACGGCTGCCCGAGACTGCCGCCCTCCGACAGCGCCCAAGCCTCCGGCCGCTGCGGCCAGTGGGCCAGGGTTCGGCGAGCCTTCCCTGCCGGCGCCGGCCGGCTGCTGAGGCGCTGGGAGGAGCTGCGGAGGGCGGGGACTGGTGTCGGAGAAGGGGCGGGGTGGGAACGCCGGAGAGAACCCGGTGGCTGCACAGACAAAAAAGCCCCGAATGGCTGGAGGGCGTTCAGCTGTTAACAGCCTTTTGGGGCAGAGCACGGATTTGACAGCTCCACAACGTGAGGATATCCACTGACCCCGCGAGACGGAGGAGAACGCTTCCCCGAAATTCTCTGCCCACCAAAGCCAGCGCTGCAAGGTTGCAACTTTCAAACTTTGTTTTTCCAGAAAGAAGACTGCCCTTTCGTGTACAAGGAGAGGGTGAGAGGGTGACCTAGCTTGTAGATCGGCTGAAGGCACCAGTGGTTCCAAATGTCACCCAGATGTGTGTTTTCATGACGATTTGATTTCTCTGATTTTATTTTTACATTTTTCATTTTAAAAATACAAAGCAATTTTTTTGGGGCATGCTGAAAGGTAACTGAAGACCGCAAAGGAAAAACTATTGTCATGGCTGAAGGAGAGAATGAAGTGAGATGGGATGGACTCTGCAGCAGAGATTCAACTACTAGGGAGACAGCATTGGAAAACATTAGGCAAACCATTTTGAGGAAAACCGAGTATCTTCGTTCGGTGAAAGAAACACCTCATCGTCCATCAGACGGGCTTTCAAATACCGAGTCTTCGGATGGGTTGAATAAGCTACTTGCTCATCTGCTTATGCTTTCTAAGAGGTGTCCCTTCAAAGATGTGAGAGAGAAAAGTGAGTTTATTCTGAAGAGCATCCAG___GAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAG___ATCCTCCAAGTGGGGAGTGAAGACGCACAGATGCATGCTTTATTTGCAGATTCTTTTGCTGCTTTGGGCCGTTTGGATAACATTACGTTAGTGATGGTTTTCCACCCACAATATTTAGAAAGTTTCTTAAAAACTCAGCACTATCTACTGCAAATGGATGGGCCGTTACCCCTACATTATCGTCACTACATTGGAATAATG___GCTGCGGCAAGACATCAGTGCTCCTACTTAGTGAACCTGCATGTAAATGATTTCCTTCATGTTGGTGGGGACCCCAAGTGGCTCAATGGTTTAGAGAATGCTCCTCAAAAACTACAGAATTTAGGAGAACTTAACAAAGTGTTAGCCCATAGACCTTGGCTTATTACCAAAGAACACATTGAG___GGACTTTTAAAAGCTGAAGAGCACAGCTGGTCCCTTGCGGAATTGGTACATGCAGTAGTTTTACTCACACACTATCATTCTCTTGCCTCATTCACATTCGGCTGTGGAATCAGTCCAGAAATTCATTGTGATGGTGGCCACACATTCAGACCTCCTTCTGTTAGCAACTACTGCATCTGTGACATTACAAATGGCAATCACAGTGTGGATGAGATGCCGGTCAACTCAGCAGAAAATGTTTCT___GTAAGTGATTCTTTCTTTGAGGTTGAAGCCCTCATGGAAAAGATGAGGCAGTTACAGGAATGTCGAGATGAAGAAGAGGCAAGTCAGGAAGAGATGGCTTCACGTTTTGAAATAGAAAAAAGAGAGAGTATGTTTGTCTTCTCTTCAG___ATGATGAAGAAGTTACACCAGCAAGAGCTGTATCTCGTCATTTTGAGGATACTAGTTATGGCTATAAAGATTTCTCTAGACATGGGATGCATGTTCCAACATTTCGTGTCCAG___GACTATTGCTGGGAAGATCATGGTTATTCTTTGGTAAATCGCCTTTATCCAGATGTGGGACAGTTGATTGATGAAAAATTTCACATTGCTTACAATCTTACTTATAATACAATGGCAATGCA)CAAAGATGTTGATACCTCAATGCTTAGACGGGCAATTTGGAACTATATTCACTGCATGTTTGGAATAAG|TCAAAGAAGTTTGGCAGAGATCACGGAGCTAATTCATATTGCTCTCCTTGTACATCGTGGGATAGTAAATTTAAATGAGTTGCAATCATCTGATGGTCCACTGAAAGACATGCAATTTGGAAATAAAATTGCTATCCTGAGTGGAGACTTTCTTCTAGCAAATGCCTGCAATGGAC(TAGCTCTGCTACAGAACACCAAG___GTTGTGGAACTTTTAGCAAGTGCTCTTATGGACTTGGTACAAGGAGTATATCATGAAAATTCTACTTCAAAG___GAAAGTTATATCACAGATGATATTGGAATATCGACTTGGAAGGAGCAGACTTTTCTCTCCCATGGTGCCTTACTAGCAAAGAGCTGCCAAGCTGCAATGGAATTAGCAAAGCATGATGCTGAGGTTCAGAATATGGCATTTCAGTATGGGAAGCACATGGCCATGAGTCATAAG___ATAAATTCTGATGTCCAGCCTTTTATTAAAGAAAAGACCAGTGACTCCATGACTTTTAATCTAAACTCAGCTCCTGTAGTCTTACATCAGGAATTTCTTGGAAGAGATTTGTGGATTAAACAGATCGGAGAG___GCTCAAGAAAAAGGAAGATTGGACTATGCTAAG___TTGCGAGAAAGAATCAAAGCTGGCAAAGGTGTGACTTCAGCTATTGACCTGTGTCGTTACCATGGAAACAAGGCACTGGAGGCCCTGGAGAGCTTTCCTCCCTCGGAGGCCAGATCTGCTTTAGAAAACATTGTGTTTGCTGTGACCAGATTTTCATGACATCAAATTAAAAAGACACTATTGTTAGTTAGCTGAAAATCCTAGGGAATGAGGTTGATTGGGAGCGCTTTCACGATGCGTTAATGACTTTTAAAACATATGCATTTTTCCTTCCTTTTATCACATTGCTAAATGAGTTCTGCTTTCTTTTTGGAACTGCTACAAACAAAATTAGAAGAAAAAAAGGTCAAGCAGTTTTCACTTGTCACGCCAGAAGCACACTTGAGGCTGCAGTCGCAGAAATAATTAATGAGATTCGCTCCTGTGACCTCAGCAAATGGACAGGAAATAAGTCCTTATTGATTGGACCGAGCCAGGGATGGCGCCAGGGCGGTGGCCTGTGGTTTTTCCTGCTAGAGAGGACAAAGCAAGTTGGAAGCTGCAGGTGTCAAGAGAAATGCTCTCAATACCAACCAGGGAGGATTGTCTAATCAAAAACTAGTGACCAATTTGTCATAATGGAGAGTAGTTCAATGGATTGAGAAAAATATGTTTTATTTGTTGGCTTGTAATTATGTCTCTGGATTATTATTATTTTTTTTTTAGATGTAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAGTTTTGACTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACTGCACCTGGCCTCATGTCTCTGGATTTATAATGCAGTATGAATATACTTTGTGCTTTATGGTTTTTATAATGTCTTTTTGGAGAAATTGCCGAAAAGTTGCCAAATACTTGAAGTAGGAGATTAAAATGTTATCAAATGTTAAATTGGTTATATTAGGAATAGTCTGTTTTTCTTTCCTGAAGATCAGTTTTTTTATTCAAACACATTTCAAAGAACCAAATTTTTTTTTTCTTTAAGGAAAAAGGAGCTTTTTTTCAAGTGAAATGTATTCATTTGTAATACTTTGGTTTAAGGCATACTTTAATTTTTACGAGTTTCAGAAACAGAATTTTTGTACTAGGGAATTCATTGGTGAGAGTGTTCTTTTAACCTCAGAATGTCAAATTTTGGTCTTGAACCACAGACATCCAATTACAGAAAGAATATAAGCAATCTCACAGGCCTGCAATCGGACACTGTCTCTGTGTGGTTCATAGGAGATGATTTTTGAGGTTTGCACTCATGCAATTTGAGAACACCGTTGACAAGAAGGCTGAGTTTACATAAATGATCTAGATTGAAACTCAGCTACCTTTCTTCCTCATGTGGTGTAATTACAGCCCTATCTGGAGACAGCGAATACAGCAAACAGATTTTATTACCTAGTTCGCTCAAACACTACATGAAGTTATTTTAGTTAAAGCCCTCCCCCAAAAGTTATAAAACCATTTTATCAGGGCCCAACATGTGGCATGCAATGAAGAGAAAATGTAAAGCTACAGAGGTTAATGTATTGTATTATAAAATATTTTAAGTGTACTCAAAATATCATAATTGTACAGTTTATGCCACCATAATTTGAGGCCTATAGATTTAGCTTAAGAGAACACTGTTCTGTTTGAAATGCTTTCTGTCACTGAAATTGGCTTAATTAGTAACCATGGATAAGATGCTTTAGATCAGACTAGGTTTTAATCATTAACTTCCACAAAGAAGTCATACTTTGCGTTAGGTGTGCTGGTTGGATGTGCAGGAACTTCAGCAAGCAGTAGGTTTTACTAAGCAGATGGTCGGGCACTGCAGGGCACCAGGCAGGATCCTAGGGCGCCTCTTATTCTGCGTTAGCATCTGGTTTGCTGTATGACCTTGCACAAGTCACTTCCTTCTGAGCCTCAATTTTCTCATCTGTACAATGAGATTCAAAAGTTGACCTGAAAGTCAAGTGTGAAAAAAAAAAAGAGATTAAACAAGATAATTATGAAA)$ MAEGENEVRWDGLCSRDSTTRETALENIRQTILRKTEYLRSVKETPHRPSDGLSNTESSDGLNKLLAHLLMLSKRCPFKDVREKSEFILKSIQELGIRIPRPLGQGPSRFIPEKEILQVGSEDAQMHALFADSFAALGRLDNITLVMVFHPQYLESFLKTQHYLLQMDGPLPLHYRHYIGIMAAARHQCSYLVNLHVNDFLHVGGDPKWLNGLENAPQKLQNLGELNKVLAHRPWLITKEHIEGLLKAEEHSWSLAELVHAVVLLTHYHSLASFTFGCGISPEIHCDGGHTFRPPSVSNYCICDITNGNHSVDEMPVNSAENVSVSDSFFEVEALMEKMRQLQECRDEEEASQEEMASRFEIEKRESMFVFSSDDEEVTPARAVSRHFEDTSYGYKDFSRHGMHVPTFRVQDYCWEDHGYSLVNRLYPDVGQLIDEKFHIAYNLTYNTMAMHKDVDTSMLRRAIWNYIHCMFGIs|QRSLAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITDDIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVLHQEFLGRDLWIKQIGEAQEKGRLDYAKLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS* 06BR006 ENSG00000278540.5 ENSG00000273513.1 -/+ +/+ chr17:37314399 chr17:37927457 intron intron deletion/3'-3' 10 5 0 66 107 medium . . |Rab-GTPase-TBC_domain(100%) . . ENSG00000278540.5 ENSG00000273513.1 . ENST00000620247.1 downstream upstream mismatches(1) CTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCACGGCTAATTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGACCA|CCTTGTCCTCCCTTCCCTGTGCCTTCTCCTGGGCTGAGCCCTGAGCTGGAAAGGGACAGAGCCAGTCCTTTCTGGGGGTCGGCACCCAGGCTGGGGCCGCTCCAGGCCCCGTGCAGTTCCTCAGCTCTGCCTGGGTTGCCTTACAGTGAGACGGAGCTGCCTCCTCTGACTGCGCG(GGAGGCGAAG___CAAATTCGGCGGGAGATCAGCCGAAAGAGCAAGTGGGTGGATATGCTGGGAGACTGGGAGAAATACAAAAGCAGCAGAAAG___CTCATAGATCGAGCGTACAAGGGAATGCCCATGAACATCCGGGGCCCGATGTGGTCAGTCCTCCTGAACATTGAGGAAATGAAGTTGAAAAACCCCGGAAGATACCAG___ATCATGAAGGAGAAGGGCAAGAAGTCATCTGAGCACATCCAGCGCATCGACCGGGACGTAAGCGGGACATTAAGGAAGCATATATTCTTCAGGGATCGATACGGAACCAA___GCAGCGGGAACTACTCCACATCCTCCTGGCATATGAGGAGTATAACCCG___GAGGTGGGCTACTGCAGGGACCTGAGCCACATCGCCGCCTTGTTCCTCCTCTATCTTCCTGAGGAGGATGCATTCTGGGCACTGGTGCAGCTGCTGGCCAGTGAGAGGCACTCCCTGCAGG___GATTTCACAGCCCAAATGGCGGGACCGTCCAGGGGCTCCAAGACCAACAGGAGCATGTGGTAGCCACGTCACAACCCAAGACCATGGGGCATCAG___GACAAGAAAGATCTATGTGGGCAGTGTTCCCCGTTAGGCTGCCTCATCCGGATATTGATTGACGGG___ATCTCTCTCGGGCTCACCCTGCGCCTGTGGGACGTGTATCTGGTAGAAGGCGAACAGGCGTTGATGCCGATAACAAGAATCGCCTTTAAGGTTCAGCAGA___AGCGCCTCACGAAGACGTCCAGGTGTGGCCCGTGGGCACGTTTTTGCAACCGGTTCGTTGATACCTGGGCCAGGGATGAGGACACTGTGCTCAAGCATCTTAGGGCCTCTATGAAGAAACTAACAAGAAAGAAGGGGGACCTGCCACCCCCAG___CCAAACCCGAGCAAGGGTCGTCGGCATCCAGGCCTGTGCCGGCTTCACGTGGCGGGAAGACCCTCTGCAAGGGGGACAGGCAGGCCCCTCCAGGCCCACCAGCCCGGTTCCCGCGGCCCATTTGGTCAGCTTCCCCGCCACGGGCACCTCGTTCTTCCACACCCTGTCCTGGTGGGGCTGTCCGGGAAGACACCTACCCTGTGGGCACTCAGGGTGTGCCCAGCCCGGCCCTGGCTCAGGGAGGACCTCAGGGTTCCTGGAGATTCCTGCAGTGGAACTCCATGCCCCGCCTCCCAACGGACCTGGACGTAGAGGGCCCTTGGTTCCGCCATTATGATTTCAGGCAGAGCTGCTGGGTCCGTGCCATATCCCAGGAGGACCAGCTGGCCCCCTGCTGGCAGGCTGAACACCCTGCGGAGCGGGTGAGATCGGCTTTCGCTGCACCCAGCACTGATTCCGACCAGGGCACCCCCTTCAGAGCTAGGGACGAACAGCAGTGTGCTCCCACCTCAGGGCCTTGCCTCTGCGGCCTCCACTTGGAAAGTTCTCAGTTCCCTCCAGGCTTCTAGAAGCATCTGGGCCAGGGCTCATGGCTGGATAATTTCCCTAGGCTTAACAACCCAAGCAAGCTTCGCATCCTCGTTTTATTTTTGGTTAAACTTATGAAAATGTATTAAGAAAGAGTGCAGCTCGAGAGAGATTCAGAGATGGAACACACCAGACCCCAGATCACAAAGCCAACCATGCCCAGCCCCTCCCAGCACCCCCAGCCCCACGACCATCGTTCTGAATTCTGACGACACCGTGAGCCTGCCTTTGTACTTCAAACTCATGGAAGGATAACCACCTTCATGTTTTGAAATAAATGTTTCCTGTTG)$ . 06BR006 ENSG00000126351.13 ENSG00000141736.13 +/+ +/+ chr17:40091450 chr17:39705006 3'UTR intron duplication 3 6 0 54 34 medium stop-codon . Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%)|Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%) . . ENSG00000126351.13 ENSG00000141736.13 ENST00000450525.7 . downstream upstream . ^(ACTCGCACTCACACCCGGGCGCAGGAGGCGGGCGGCCCGGGCCCCACCGGCCCCCCATGGACGCCCCCAGCACGGGGCGCTGAGACCCCCGCGTCGCTGCCCAGCCCGGTCCGGCGCGCCACGCCGAG___GGATCTCTGGACAGGACAAGACTCCGAAGCTACTCCCCCAGCACACAGCCCGGGACCCACAAACCCAGCTTGCCCCCAGCCCTCCCACCTGCCACTCCCTGGCCCCTCCCACCGCCCGCCCCCCTTGGGGCGCAGGGCATGGTGTGAAAGGCCAAGTGCTGAGGCGGGTATCATGGGTGCTGTGCCCTAGGGCCTGGGTGGCAGGGGGTGGGTGGCCTGTGGGTGTGCCGGGGGGGCCAGTGTGCCCACCCCAGTCTCTTGGCGTGCTGGAGGGCATCCTGGATGGAATTGAAGTGAATGGAACAGAAGCCAAGCAAGGTGGAGTGTGGGTCAGACCCAGAGGAGAACAG___TGCCAGGTCACCAGATGGAAAGCGAAAAAGAAAGAACGGCCAATGTTCCCTGAAAACCAGCATGTCAG___GGTATATCCCTAGTTACCTGGACAAAGACGAGCAGTGTGTCGTGTGTGGGGACAAGGCAACTGGTTATCACTACCGCTGTATCACTTGTGAGGGCTGCAAG___GGCTTCTTTCGCCGCACAATCCAGAAGAACCTCCATCCCACCTATTCCTGCAAATATGACAGCTGCTGTGTCATTGACAAGATCACCCGCAATCAGTGCCAGCTGTGCCGCTTCAAGAAGTGCATCGCCGTGGGCATGGCCATGGACT___TGGTTCTAGATGACTCGAAGCGGGTGGCCAAGCGTAAGCTGATTGAGCAGAACCGGGAGCGGCGGCGGAAGGAGGAGATGATCCGATCACTGCAGCAGCGACCAGAGCCCACTCCTGAAGAGTGGGATCTGATCCACATTGCCACAGAGGCCCATCGCAGCACCAATGCCCAGGGCAGCCATTGGAAACAGAGGCGGAAATTCCTG___CCCGATGACATTGGCCAGTCACCCATTGTCTCCATGCCGGACGGAGACAAGGTGGACCTGGAAGCCTTCAGCGAGTTTACCAAGATCATCACCCCGGCCATCACCCGTGTGGTGGACTTTGCCAAAAAACTGCCCATGTTCTCCGAG___CTGCCTTGCGAAGACCAGATCATCCTCCTGAAGGGGTGCTGCATGGAGATCATGTCCCTGCGGGCGGCTGTCCGCTACGACCCTGAGAGCGACACCCTGACGCTGAGTGGGGAGATGGCTGTCAAGCGGGAGCAGCTCAAGAATGGCGGCCTGGGCGTAGTCTCCGACGCCATCTTTGAACTGGGCAAGTCACTCTCTGCCTTTAACCTGGATGACACGGAAGTGGCTCTGCTGCAGGCTGTGCTGCTAATGTCAACAG___ACCGCTCGGGCCTGCTGTGTGTGGACAAGATCGAGAAGAGTCAGGAGGCGTACCTGCTGGCGTTCGAGCACTACGTCAACCACCGCAAACACAACATTCCGCACTTCTGGCCCAAGCTGCTGATGAAGGTGACTGACCTCCGCATGATCGGGGCCTGCCACGCCAGCCGCTTCCTCCACATGAAAGTCGAGTGCCCCACCGAACTCTTCCCCCCACTCTTCCTCGAGGTCTTTGAGGATCAGGAAGTCTAAAGCCTCAGGCGGCCAGAGGGTGTGCGGAGCTGGTGGGGAGGAGCCTGGAGAGAAGGGGCAGAGCTGGGGGCTGAGGGAGACCCCCCCACACCCCTTCTCTCCTTCCTCTCGTCCTTGGATAGATTCAGCTCCCACACACACACCCGCACTGCCCAGGTCCCTCCTCAGACCTCCAGCCCTGGGACAGGGCAAACAACTGAACTTGCTATGGAAAGGACAGTGTGGGAGGCTGGGGGAGCTGTGTCCTGCAGTTCCCAGGACCCCATCCTCTCAGAAGGTAGGGGAAGGGCGGGAGGATTGAGAAGGGACAAGCCACCTTGACCGTAGGGGAAGGAGGAATGTGGGCTGGGGGAAGATGCCCTCAACTCACCCCCTACACACACATGAGAGAGAGCCCCCACCCAGTTCCTTGGCCTAGGTCTCCCCTCCAGGCTGAGGGCCTCTCTACTTCCCCAGATGCCTGGGTGCAAAGAACGGCTTGGCTTGGCTCCTCCTCTGGAGGTTAAAATTTATAGTCATTCTAACTGCACTTTGGAAACCAAGCAAGGGGAGAAGACAAATGAAGAAAAACTAGACAGAGAGAAAAATACAAAAAAGAGAGAGCGAGCGATAGAGAGAGATGATATTAAGTTATTAACTGAGGCTGACCAGAGGGGAGGACCCCCCCTTTACCACCCCATGCACTTTGCGAGCTGCCCCTTCTTCCCCCACATCAGAGAGAAATGCCCCCACACCAGAGCCCCAAGGGTAGGGCTGCCGATCAGAGCTGTGAGTTAACACAACAGGGTCCTGGCCACCCCCCTTGCCATACCCCGCCCTCTGTGCCCCTTTGGCACCCCCCAACCCTAGTATGTCCTCTGCTTTCTGCCACTCGTGCCCGCTGAGTTCCATCTACCTCTCATGCTGGATGCCAGCTGGCCCCTCACCAGCCTGCCCTGCTGCCCACACAGCTCCCCTTTAAGTGCCCAGCCCTAGGGGCCTCTCCCCATCCACCTCCTCCTTCCACACCTTGGCACCCACCCAGGAAAAAACTGTGGCTCCAACTCCTACCCTCCTTATATCCTGCAGTATTAGCTAGAAACCGGATGCTGCTGCATTGGTTGGGTCGGGGGTAGGAGGGCTGTGCGTGAGCGTCTCCCAGAACCCTCCACCCCTTTAGCACTCTGTTTCCCTGTTTCCCATCTGTCTTCTGGGCTCTCTCTAACCTCTGCCCTCCTCCCCAGCTCCTACTCACTGCACTAACTCTGGGCGGGCAGGTACCAGAATGGGGGTGTTTAGATAAGTGACACTTAGTTGGGGCCCCAGGGGAGGGGTGGTCGGTGCTCCTTTTTCTTTAAAGCTCTTTTGGCCAGCTGCCCCTCTGCCCCGGGACCCCTTCCCCTCTTCTTTTCTCTAATTCAGGGACTTTGGCTTGAGCCCCTCTCGCCCTCCTGGTGAGGGTGCTCTGTTGGTCTGCACTTGGGTGAGCTGTCCTCCTCCCCCTCCCTGTGGCTGCCGCCCACTCCTCAGGGGAGAGAGGGAGAGAGGAGGTGGTCCTCCCATGGGAGCAGGAGGTGGGGTGGGACAGAGCAGACCAGAGGGTGCTGGGCTCAGGGCTGCATGTCGGCAGGGATGGATGGGTGGACACAGATGCCCCCGGAAGCCATGGGGATTGGGGCAGGGGGTGGGGGGAGGGGTGCCAGGGCTTCCTGCGCTTTGCACTATTGGGGCAAAAATGTCTTAAGCAGTGGGGAACCTGCCACCCCACCCTGACCCTCAGCCTGCCACAGCCCCCTACACACACACACACACACACACACACACACACACACACACGGACATG)CACACACGGACATaGGAAGGCAATGCTATGCTGCCCGTCAGGGCACTGTCCTTCCCCAATCGTTCAGGTGTTCCAACAGGGGTGGAGGGCCTGaAGGAGCACCCGCTGTCACCTGTGCATGTGCCTGTCCCACCCTGCTGGGGCCTCGGGCTGCCCGCGCTGTCTTTGTCTC|CAGCCTGAGTTCCAGTCCTGCCTGTTGCTCACAAGCTTTATGAGGCGAGAGCTAACCCCTGCCAGCCTCAGTTGTCTTCTTTGCAAGATGGAGGTTGCAGCCCCAGTCTCTGGAGCATGTTATGCAGATCCACCGAGAGTGCCTGCCAGGCACACAGTAGGTGCTCAGCTCAGTTACTGTGGCGGCCCCCACTCCCCATTGTTGTTGTTTTCCTATTGCCTGGCGGCCACAGCTGGTATCCCTTGAAAAG . 06BR006 ENSG00000146416.19 ENSG00000091831.23 +/+ +/- chr6:143165183 chr6:152109658 CDS/splice-site intron inversion/3'-3' 1 1 0 103 5 medium out-of-frame . FAR-17a/AIG1-like_protein(100%)| . . ENSG00000146416.19 ENSG00000091831.23 ENST00000357847.9 . downstream downstream . ^(CTCCTTGCCGCCCAGCCGGTCCAGGCCTCTGGCGAACATGGCGCTTGTCCCCTGCCAGGTGCTGCGGATGGCAATCCTGCTGTCTTACTGCTCTATCCTGTGTAACTACAAGGCCATCGAAATGCCCTCACACCAGACCTACGGAGGGAGCTGGAAATTCCTGACGTTCATTGATCTG___GTTATCCAGGCTGTCTTTTTTGGCATCTGTGTGCTGACTGATCTTTCCAGTCTTCTGACTCGAGGAAGTGGGAACCAGGAGCAAGAGAGGCAGCTCAAGAAGCTCAT)CTCTCTCCGGGACTGGATGTTAGCTGTGTTGGCCTTTCCTGTTGGGGTT___TTTGTTGTAGCAGTGTTCTGGATCATTTATGCCTATGACAGAGAGATGATATACCCGAAGCTGCTGGATAATTTTATCCCAGGGTGGCTGAATCACGGAATG|GCTGGAGTGCAATGGCACAATCTCGGCTCACCACAAACTCCACCTCCTGGATTCAAGTGATTCTCCTGACTCAGCCTCCTGAGAAGCTGGGATTACAGGCATGCACCACCACACCCA MALVPCQVLRMAILLSYCSILCNYKAIEMPSHQTYGGSWKFLTFIDLVIQAVFFGICVLTDLSSLLTRGSGNQEQERQLKKLISLRDWMLAVLAFPVGVFVVAVFWIIYAYDREMIYPKLLDNFIPGWLNHGM|agvqwhnlgspqtpppgfk* 06BR014 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 23 24 1 137 67 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCA)TTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 06BR014 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 18 1 45 55 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(2),mismappers(1),mismatches(3) GGGACATCTTCATCACCAGCGTGGACGCCGCCAaGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATG(GAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 06BR014 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 27 0 35 171 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(4) CGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCT(AGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 06BR014 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 7 18 0 22 55 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream duplicates(1),low_entropy(3) GTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTAC(ACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 06BR014 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 16 6 0 155 52 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream inconsistently_clipped(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATC)AGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG___AACAGACAAAAGGAC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 06BR014 ENSG00000264570.1(27678),ENSG00000273732.1(20120) ENSG00000183206.17 ./- -/- chr18:14660484 chr18:14538249 intergenic CDS/splice-site deletion/read-through 5 13 0 122 122 high . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000183206.17 . ENST00000358970.9 upstream downstream duplicates(1),mismappers(1) CAACTGCAAAGTCTCAGATGTTTTCACAGTTGAGACAAGAGAACAAGAAGCACCAATGAAAACCACGGGGTTCTATGGAGGCATCATGGTGTG|GACTGCTCTACATTTGGCCTCTGCCAATGGAAATTCAGAAGTAGTACAACTCCTGCTGGACAGACGATGTCAACTTAATGTCCTTGACAACAAAAAAAGGACAGCTCTGATAAAG___GCCGTACAATGCCAGGAAGATGAA(TGTGTGTTAATGTTGCTGGAACATGGCGCTGATCAAAATATTCCAGATGAGTATGGAAATACCACTCTACACTATGCTGTCCACAATGAAGATAAATTAATGGCCAAAGCACTGCTCTTATATGGTGCTGATATTGAATCAAAAAACAAG___TGTGGCCTCACACCACTTTTGCTTGGCGTACATGAACAAAAACAGCAAGTGGTGAAATTTTTAATCAAGAAAAAAGCTAATTTAAATGCACTTGATAGATATGGAAG___AACTGCCCTCATACTTGCTGTATGTTGTGGATCAGCAAGTATAGTCAATCTTCTCCTTGAGCAAAATGTTGATGTATCTTCTCAAGATCTATCTGGACAGACGGCCAGAGAGTATGCTGTTTCTAGTCATCATCATGT___AATTTGTGAATTACTTTCTGACTATAAAGAAAAACAGATGCTAAAAATCTCTTCTGAAAACAGCAATCCAG___AACAAGACTTAAAGCTAACATCAGAGGAAGAGTCACAAAGGCTTAAAGTCAGTGAAAATAGCCAGCCAGAG___AAAATGTCTCAAGAACCAGAAATAAATAAGGACTGTGATAGAGAG___GTTGAAGAAGAAATAAAGAAGCATGGAAGTAATCCTGTGGGATTACCAGAAAACCTGACTAATGGTGCCAGTGCTGGCAATGGTGATGATGGATTAATTCCACAAAGGAGGAGCAGAAAACCTGAAAATCAGCAATTTCCTGACACTGAGAATGAAGAGTATCACAG___TGACGAACAAAATGATACCCGGAAACAACTTTCTGAAGAACAGAACACTGGAATATCACAAGATGAGATTCTGACTAATAAACAAAAGCAGATAGAAGTGGCTGAAAAGAAAATGAATTCTGAG___CTTTCTCTTAGTCATAAGAAAGAAGAAGATCTCTTGCGTGAAAACAGCATGTTGCAGGAAGAAATTGCCATGCTAATTTCTGGAGACTGGAACTAG)$ . 06BR014 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 5 6 1 31 20 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(2) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAG)CTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGAC...___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyer 06BR014 ENSG00000170634.13 ENSG00000115306.16 +/+ +/+ chr2:54115756 chr2:54526372 CDS/splice-site 5'UTR/splice-site deletion 2 4 0 39 43 high out-of-frame . Acylphosphatase(100%)|Calponin_homology_(CH)_domain(100%),Pleckstrin_homology_domain(100%),Spectrin_repeat(100%) . . ENSG00000170634.13 ENSG00000115306.16 ENST00000394666.7 ENST00000615901.4 downstream upstream . ^(CGGCTGCCCTCGCTCCCAGGCCCCGCAGTCTCATTTGCCGCTTCCGACGCGTGACCCCGGCGCGCTAGCGTCCGGGACCGGTGACAGGCGCGGGGTGCGCCAAGCAGTCCCATGTGTCCCCTCCCTCTCGCAGCCGCCGCAGTCGCTGCGCCCCGAGCCCCT)CTCCGGCTCCTCAACAGAGGGCTCGCCGCCGCCATGTCTACCGCCCAGTCACTCAAATCCGTGGACTACGAGGTGTTCGGAAGAGTGCAGG|AACTCTAAGAAGGAGCTGATGTGGAGGAGCAGCTGAGACAGTTCAAGATGACGACCACAGTAGCCACAGACTATGACAACATTGAGATCCAGCAGCAGTACAGTGATGTCAACAACCGCTGGGATGTCGACGACTGGGAC(AATGAGAACAGCTCTGCGCGGCTTTTTGAGCGGTCCCGCATCAAGGCTCTGGCAG___ATGAGCGTGAAGCCGTGCAGAAGAAGACCTTCACCAAGTGGGTCAATTCCCACCTTGCCCGTGTGTCCTGCCGGATCACAGACCTGTACACTGACCTTCGAGATGGACGGATGCTCATCAAGCTGCTGGAGGTCCTCTCTGGAGAGAGGCTG___CCTAAACCCACCAAGGGACGAATGCGCATCCACTGCTTAGAGAATGTGGACAAGGCCCTTCAGTTCCTGAAGGAGCAGAGAGTCCATCTTGAGAACATGGGGTCCCATGACATCGTGGATGGAAACCACCGGCTGACCCTTGGCCTCATCTGGACCATCATCCTGCGCTTCCAG___ATCCAGGATATCAGTGTGGAAACTGAAGACAACAAAGAGAAGAAATCTGCCAAGGATGCATTGCTGTTGTGGTGCCAGATGAAGACAGCTGG___GTACCCCAATGTCAACATTCACAATTTCACCACTAGCTGGAGGGACGGCATGGCCTTCAATGCACTGATACACAAACACCG___GCCTGACCTGATAGATTTTGACAAACTAAAGAAATCTAACGCACACTACAACCTGCAGAATGCATTTAATCTGGCAGAACAGCACCTCGGCCTCACTAAACTGTTGGACCCCGAAG___ACATCAGCGTGGACCATCCTGATGAGAAGTCCATAATCACTTATGTGGTGACTTATTACCACTACTTCTCTAAGATGAAGGCCTTAGCTGTTGAAGGAAAACGAATTGGAAAG___GTGCTTGACAATGCTATTGAAACAGAAAAAATGATTGAAAAGTATGAATCACTTGCCTCTGACCTTCTGGAATGGATTGAACAAACCATCATCATTCTGAACAATCGCAAATTTGCCAATTCACTGGTCGGGGTTCAACAGCAGCTTCAGGCATTCAACACTTACCGCACTGTGGAGAAACCACCCAA___ATTTACTGAGAAGGGGAACTTGGAAGTGCTGCTCTTCACCATTCAGAGCAAGATGAGGGCCAACAACCAGAAGGTCTACATGCCCCGGGAGGGGAAGCTCATCTCTGACATCAACAAG___GCCTGGGAAAGACTGGAAAAAGCGGAACACGAAAGAGAACTGGCTTTGCGGAATGAGCTCATAAGACAGGAGAAACTGGAACAGCTCGCCCGCAGATTTGATCGCAAGGCAGCTATGAGGGAGACTTGGCTGAGCGAAAACCAGCGTCTGGTGTCTCAG___GACAACTTTGGGTTTGACCTTCCTGCAGTTGAGGCCGCCACAAAAAAGCACGAGGCCATTGAGACAGACATTGCCGCATACGAGGAGCGTGTGCAGGCTGTGGTAGCCGTGGCCAGGGAGCTCGAGGCCGAGAATTACCACGACATCAAGCGCATCACAGCGAGGAAGGACAATGTCATCCGGCTCTGGGAATACCTACTGGAACTGCTCAGGGCCCGGAGACAGCGGCTCGAGATGAACCTGGGGCTGCAGAAGATATTCCAGGAAATGCTCTACATTATGGACTGGATGGATGAAATGAAG___GTGCTAGTATTGTCTCAAGACTATGGCAAACACTTACTTGGTGTGGAAGACCTGTTACAGAAGCACACCCTGGTTGAAGCAGACATTGGCATCCAGGCAGAGCGGGTGAGAGGTGTCAATGCCTCCGCCCAGAAGTTCGCAACAGACGGGGAAG___GTTACAAGCCCTGTGACCCCCAGGTGATCCGAGACCGCGTGGCCCACATGGAGTTCTGTTATCAAGAGCTTTGCCAGCTGGCGGCTGAGCGCAGGGCCCGTCTGGAAGAGTCCCGCCGCCTCTGGAAGTTCTTCTGGGAGATGGCAGAAGAGGAAGGCTGGATACGGGAGAAGGAGAAGATCCTGTCCTCGGACGATTACGGGAAAGACCTGACCAGCGTCATGCGCCTGCTCAGCAAGCACCGGGCGTTCGAGGACGAGATGAGCGGCCGCAGTGGCCACTTTGAGCAGGCCATCAAGGAAGGCGAAGACATGATCGCGGAGGAGCACTTCGGGTCGGAGAAGATCCGTGAGAGGATCATTTACATCCGGGAGCAGTGGGCCAACCTAGAGCAGCTCTCGGCCATTCGGAAGAAGCGCCTGGAGGAGGCCTCCCTGCTGCACCAGTTCCAGGCAGATGCTGATGACATTGATGCCTGGATGCTGGACATCCTCAAGATTGTCTCCAGCAGCGACGTGGGCCACGATGAGTATTCCACACAGTCTCTGGTCAAGAAACACAAGGACGTGGCGGAAGAGATCGCCAATTACAGGCCCACCCTTGACACGCTGCACGAACAAGCCAGCGCCCTCCCCCAGGAGCATGCCGAGTCTCCAGACGTGAGGGGCAGGCTGTCGGGCATCGAGGAGCGGTATAAGGAGGTGGCAGAGCTGACGCGGCTGCGGAAGCAGGCACTCCAGGACACTCTGGCCCTGTACAAGATGTTCAGCGAGGCTGATGCCTGTGAGCTCTGGATCGACGAGAAGGAGCAGTGGCTCAACAACATGCAGATCCCAGAGAAGCTGGAGGATCTGGAGGTCATCCAGCACAG___ATTTGAGAGCCTAGAACCAGAAATGAACAACCAGGCTTCCCGGGTTGCAGTGGTGAACCAGATTGCACGCCAGCTGATGCACAGCGGCCACCCAAGTGAGAAGGAAATCAAAGCCCAGCAGGACAAACTCAACACAAG___GTGGAGCCAGTTCAGAGAACTGGTTGACAGGAAGAAGGATGCCCTCCTGTCTGCCCTGAGCATCCAGAACTACCACCTCGAGTGCAATGAAACCAAATCCTGGATTCGGGAAAAGACCAAGGTCATCGAGTCCACCCAGGACCTGGGCAATGACCTGGCTGGCGTCATGGCCCTGCAGCGCAAGCTGACCGGCATGGAGCGGGACTTGGTGGCCATTGAGGCAAAGCTGAGTGACCTGCAGAAGGAGGCGGAGAAGCTGGAGTCCGAGCACCCCGACCAGGCCCAGGCCATCCTGTCTCGGCTGGCCGAGATCAGCGACGTGTGGGAGGAGATGAAGACCACCCTGAAAAACCGAGAGGCCTCCCTGGGAGAGGCCAGCAAGCTGCAGCAGTTCCTACGGGACTTGGACGACTTCCAGTCCTGGCTCTCTAGGACCCAGACAGCGATCGCCTCGGAGGACATGCCAAACACCCTGACCGAGGCTGAGAAGCTGCTCACGCAGCACGAGAACATCAAGAACGAGATCGACAACTACGAGGAGGACTACCAGAAGATGAGGGACATGGGCGAGATGGTCACCCAGGGGCAGACCGATGCCCAGTACATGTTTCTGCGGCAGCGGCTGCAGGCCCTGGACACTGGATGGAACGAGCTCCACAAGATGTGGGAGAACAGACAAAATCTCCTATCCCAGTCACATGCCTACCAGCAGTTCCTCAGAGACACGAAGCAAGCCGAAGCCTTTCTTAACAACCAG___GAGTATGTTCTGGCTCACACTGAAATGCCTACCACCTTGGAAGGAGCTGAAGCAGCAATTAAAAAGCAAGAGGACTTCATGACCACCATGGACGCCAATGAGGAGAAGATCAATGCTGTGGTGGAGACTGGCCGGAGGCTGGTGAGCGATGGGAACATCAACTCAGATCGCATCCAGGAGAAGGTGGACTCTATTGATGACAG___ACATAGGAAGAATCGTGAGACAGCCAGTGAACTTTTGATGAGGTTGAAGGACAACAGGGATCTACAGAAATTCCTGCAAGATTGTCAAGAG___CTGTCTCTCTGGATCAATGAGAAGATGCTCACAGCCCAGGACATGTCTTACGATGAAGCCAGAAATCTGCACAGTAAATGGTTGAAGCATCAAGCATTTATGGCAGAACTTGCATCCAACAAAGAATGGCTTGACAAAATCGAGAAG___GAAGGAATGCAGCTCATTTCAGAAAAGCCTGAGACGGAAGCTGTGGTGAAGGAGAAACTCACTGGTTTACATAAAATGTGGGAAGTCCTTGAATCCACTACCCAGACAAAGGCCCAGCGGCTCTTTGATGCAAACAAGGCCGAACTTTTCACCCAGAGCTGTGCAGATCTAGACAAATGGCTGCACGGCCTGGAGAGTCAGATTCAGTCTGATGACTATGGCAAAGACCTGACCAGTGTCAATATCCTGCTGAAAAAGCAACAGGCAA___CA___ATGCTGGAGAATCAGATGGAAGTGCGGAAGAAGGAGATCGAAGAGCTCCAAAGCCAAGCCCAGGCCCTGAGTCAGGAAGGGAAGAGCACCGACGAGGTAGACAGCAAGCGCCTCACCGTGCAGACCAAGTTCATGGAGTTGCTGGAGCCCTTGAACGAGAGGAAGCATAACCTGCTGGCCTCCAAAGAGATCCATCAGTTCAACAGGGATGTGGAGGACGAGATC___TTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAG___ACCCTCCAGAAAGAAATCCAGGGGCACCAGCCTCGCATTGACGACATCTTTGAGAGGAGCCAAAACATCGTCACTGACAGCAGCAGCCTCAGCGCTGAGGCCATCAGACAGAGGCTTGCCGACCTGAAGCAGCTGTGGGGTCTCCTCATTGAGGAGACAGAGAAACGCCACAGGCGGCTGGAGGAGGCGCACAGGGCCCAGCAGTACTACTTTGACGCTGCTGAGGCCGAAGCCTGGATGAGCGAGCAGGAGCTGTACATGATGTCAGAGGAGAAGGCCAAG___GATGAGCAGAGTGCTGTCTCCATGTTGAAGAAGCACCAGATCTTAGAACAAGCTGTGGAGGACTATGCAGAGACCGTGCATCAGCTCTCCAAGACCAGCCGGGCCCTGGTGGCCGACAGCCATCCTGAAAG___TGAGCGCATTAGCATGCGGCAGTCCAAAGTGGATAAACTGTACGCTGGTCTGAAAGACCTTGCTGAAGAGAGAAGAGGCAAGCTGGATGAGAGACACAGGTTATTCCAGCTCAACCGGGAGGTGGACGACCTGGAGCAGTGGATCGCTGAGAGGGAGGTGGTCGCAGGGTCCCATGAACTGGGACAGGACTATGAGCAT___TTCACA___ATGTTACAAGAACGATTCCGGGAGTTTGCCCGAGACACCGGGAACATTGGGCAGGAGCGCGTGGACACGGTCAATCACCTGGCAGATGAGCTCATCAACTCTGGACATTCAGATGCCGCCACCATCGCTGAATGGAAGGATGGCCTCAATGAAGCCTGGGCCGACCTCCTGGAGCTCATTGACACAAGAACACAGATTCTTGCCGCTTCCTATGAACTGCACAAGTTTTACCACGATGCCAAGGAGATCTTTGGGCGTATACAGGACAAACACAAGAAACTCCCTGAGGAGCTTGGGAGAGATCAGAACACAGTGGAGACCTTACAGAGAATGCACACTACATTTGAGCATGACATCCAGGCTCTGGGCACACAG___GTGAGGCAGCTGCAGGAGGATGCAGCCCGCCTCCAGGCGGCCTATGCGGGTGACAAGGCCGACGATATCCAGAAGCGCGAGAACGAGGTCCTGGAAGCCTGGAAGTCCCTCCTGGACGCCTGTGAGAGCCGCAGGGTGCGGCTGGTGGACACAGGGGACAAGTTCCGCTTCTTCAGCATGGTGCGCGACCTCATGCTCTGGATGGAGGATGTCATCCGGCAGATCGAGGCCCAGGAGAAGCCAAG___GGATGTATCATCTGTTGAACTCTTAATGAATAATCATCAAGGCATCAAAGCTGAAATTGATGCACGTAATGACAGTTTCACAACCTGCATTGAACTTGGGAAATCCCTGTTGGCGAGAAAACACTATGCATCTGAGGAG___ATCAAGGAAAAATTACTGCAGTTGACGGAAAAGAGGAAAGAAATGATCGACAAGTGGGAAGACCGATGGGAATGGTTAAGACTGA___TTCTGGAGGTCCATCAGTTCTCAAGAGACGCCAGTGTGGCCGAGGCCTGGCTGCTTGGACAGGAGCCGTACCTATCCAGCCGAGAGATAGGCCAGAGCGTGGACGAGGTGGAGAAGCTCATCAAGCGCCACGAGGCATTTGAAAAGTCTGCAGCAACCTGGGATGAGAGGTTCTCTGCCCTGGAAAGGCTGACTACA___TTGGAGTTACTGGAAGTGCGCAGACAGCAAGAGGAAGAGGAGAGGAAGAGGCGGCCGCCTTCTCCCGAGCCGAGCACGAAGGTTTCAGAGGAAGCCGAGTCCCAGCAGCAGTG___GGATACTTCAAAAGGAGAACAAGTTTCCCAAAACGGTTTGCCAGCTGAACAGGGATCTCCACGG___ATGGCAGAAACGGTGGACACAAGCGAAATGGTCAACGGCGCTACAGAACAAAGGACGAGCTCTAAAGAGTCCAGCCCCATCCCCTCCCCGACCTCTGATCGTAAAGCCAAGACTGCCCTCCCAGCCCAGAGTGCCGCCACCTTACCAGCCAGAACCCAGGAGACACCTTCGGCCCAGATGGAAGGCTTCCTCAATCGGAAACACGAGTGGGAGGCCCACAATAAGAAAGCCTCAAGCAG___GTCCTGGCACAATGTTTATTGTGTCATAAATAACCAAGAAATGGGTTTCTACAAAGATGCAAAGACTGCTGCTTCTGGAATTCCCTACCACAGCGAGGTCCCTGTGAGTTTGAAAGAAGCTGTCTGCGAAGTGGCCCTTGATTACAAAAAGAAGAAACACGTATTCAAGCTAAG___ACTAAATGATGGCAATGAGTACCTCTTCCAAGCCAAAGACGAT___GAGGAAATGAACACATGGATCCAGGCTATCTCTTCCGCCATCTCCTCTGATAAACACGAGGTGTCTGCCAGCACCCAGAGCACGCCAGCATCCAGCCGCGCGCAGACCCTCCCCACCAGCGTCGTCACCATCACCAGCGAGTCCAGTCCCGGCAAGCGGGAAAAGGACAAAGAGAAAGACAAAGAGAAGCGGTTCAGCCTTTTTGGCAAAAAGAAATGAACTCCTTTCCTTCACCTCCTGCCCTTCTCTTACCTTTTCAGTGAAATTCCAGCATGCAAGCTCAGAACCAACACATTACTCTCTGTGCCTAATGTTCCTCAATGTGGTTGATTTTTTTTTTTTTTTAATTTATAGAGCATTTCGGGGGGGGTGGGGGAAACACACCTAAACACTTTATCTCCAAGTTACAAAAGTTTGAGGTGCAGAGGGAAGGCCAGATTTTTTTTTTAATGAAATTATATAGATTAGATCTCAGTATTTAAACTGTTCCTCAATTTTGTGAGGCTGTGTTGGAAATAACCCGCCTCTAGTGCTGTTGGTATGCAAGGCAGCGGTGCTTAATCAATATTTCCTGTGCTCACCAGAGGCAAAATGTACCAATATCCTGACACCATTCTCTCTCCATTTACTTCTGGTGGTTACCCTGACTCTTGACTCTTAGAAGTGCCCGAGATGGGGCTAACCTTTATTAAACAGATCGCATATTATGATCTTGCTGCAGCCACAGTGCAGCTCCACATTAACTCTACAGACCAAACCATTTGTATCTGGCATCACTTACTAACACACGACATGCGGCTTTTCTGCATCAACTGCTATGACGGTTAAGAATGTCAGTATACAAGAAGGAATAGAAAACTGATACTGTTTTAAATAATCTGTAATTTCAATTTTTTTTTTTTGCTGAAATACATTATATTGTACGTTTGAGATAATTCTAGTACAAAGTATAATAAAACTAGATGTATAATAAACCCTTTAAATCATTGGTAAGTGTACAAGTGGTGGAACTGAAGCATTTACTGGACAAAGTAATGTTACTCTAATGGTTACTTGCTCGTGCGTTGCCACACTGTGTTATAATTTGCTTCATTTCCTTGCTATTTGATACATAGTGTGCATTTCTCTGTCACTGTAACTATTGTAATGACAAATTTTCATCTTACTGCACAATCAAAATGACATTGATAGGAATGAACTCCAGAGGCTGGGCCTGAACAGGGAGGTGGTCGCTCAGGCCTGGTGCTCAGTCGTACGACCTGTACCTCTCAACTTTTGCCCTATCTGTTAAATATATGCTATGTCATTAAATGCTTTTAAATCTAGCACGGTGACTAGTTGTTGTTCTTCCTCTGCTGCGTGTGCATGCCCAGTAGGGAAACTGCAAAGGGAGAAATGACAAACAAGAAACATTTTACAACCAGTCTGGGCTCACTTTTGCATTTTTTATGCATGTCTGGTGCACAAGCTTTGAAAACTACAGCAAACAGTAATAAATGTGACTGTTTTGTAGTTATACATTCAGGCTTTATCTTTTATTTATGAAAAAGTTACCAGAGCACTTGTGAAACCTGAACTCTGAGATAGGGGTTGGCAAATTTGTTCTGTAAAGGGACAGAGATAGTAAATATTTTAGGCTTTGTAGGCCGTAACTGTCTCTGTTGCTCAATTCTGCTGTTGCGTAATACAAAGGCAGCCATTGACGGTATGTGAATGCCTGGGCATGGCTGTGTTCCAGTAAAACTATTTAAGGACATAAATTTGAATTTCATATAACTTTGACATGCCATACAATATTTTGATTTTCTTAATGATTTCAAAATGTAAAGTCTATTTTATACAGATCAGACCAAAAAGAAGAAAAAAAAAAAACAGGCAAGAGGTTAGGTTTGGCCCATGGGCCATAGTTTGCTGACTTCAGCATAGAGTCGTGGGTTATTTACAAGTGACATACTTTTCCTGGGTTATCTGGGTATGTTGACTCCATGCCACTTGCATAAAGCAGCAATGGATATTAGTATTATGGATGTCCAGTAAGTTATTCCACAAAGACCATGCCTAAGGTGGCATCAGCCCTGGGCTCCACAGCTGCGTGGCATCAAAGCTTTCTCTTAACTCTCTTACCTCTAGGCAAACTGAGACCTCACCATCCTCTCCCCTGCTTCCCACGACAGTCCTTTGCCCTTGCCATGCTCAGGGTTGGAATCAAGTTGTTCTATTCTCAACAGACCAAAATGTTTAGTTAAGGCAAAGTATCTTGGAAACAATTGTGATTAATTACAGTCTTGTACTCTTGACAAAGCTGTGCAGATGGCAATAAGTTCATACCAGCAATCCTGGAGTCCCATAATAAATACGTACATGTGGAACATCGTGCACATAATTTCAACAGTTCGCAGATCTGTAGTTATGAAGCCAGGGTTTGGTGGTATTTGCTCTCTCTTGGTGCATTTGATAAGGATCCACTGAGGCCTGAATGTGGAAGATGATGGGCAGCGAGAGGAGCGTCAGAAGACCCCAGTCAAGACGTGTTCGCCATCAGAGGTTACAGGCCGCACAGCCTGATGAGCTTCAAGCCTGGCAGGGTAAATAGTTTTTGGGTTTTTTGTTTTTTTTTTATTCTTCCACTATCATGTTTTTTGAGGATTTTGCATATTTCTTGTTGCCATAATGCTGTGCTATTTTACCCTGATTTTCAGTGATACAATATGGGTGACAATACTGGCCCCTCCATAAATCTGAAGAGTAAGAAGTAGTGAAAATAAGGCTTAGGATATGAAATGGCGTTGTCACTTGAATCAAGGCCACTTTTTGTCCTACTTGAGCATCTCAAGTTGGGATGCATCTTCTGATGGCACTTCCGGAACTGGCTGTGGTTTTTTTGGGTGTACCGAGAGTGCCAGTGACTGTGCTTCTTACAATTCCTGGCATCTTGAGTAGGTGAAACACTGTATCAGACTGGGTGATGGGCACATTGTCATTTCACCAAGTTCCTGGAACTGTTAGAATTGCTTGTGTATGGGGATCCTATGTTAGTTCCCCTGGATACATTGTTTTATCAGTCGGAATTCTTAAATAAAGACATACTTCCCTTC)$ MSTAQSLKSVDYEVFGRVQ|el* 06BR014 ENSG00000170634.13 ENSG00000115306.16 +/+ +/+ chr2:53973810 chr2:54526372 CDS/splice-site 5'UTR/splice-site deletion 1 2 0 16 43 high out-of-frame . |Calponin_homology_(CH)_domain(100%),Pleckstrin_homology_domain(100%),Spectrin_repeat(100%) . . ENSG00000170634.13 ENSG00000115306.16 ENST00000607452.6 ENST00000615901.4 downstream upstream . ^(GGTGGCGGCAGCTGGAGCCCAACGGGCTGCGCCTTCTTCGCCGTGGGCCCGGCTCGGAGCCCCCACCCCAGGCCTCACCGGCCCAGCGCGAGGCTGCCTCACCGGAAACACGAGGCCGAATTCCAAGCTATTGTCCTGCTTCGCCGGGGGTCG)CGCACTCCAAGCGGCAGCCCACTGGAGTCCCAGTCGCCACGACAGGCGGCAGCCAG___ACTCAGCCTGCCTGCACCCAGGTGAAATAAACAGCCATGTTGCTCACACAAAGCCTGTTTGGTGGTCTCTTCCCACGGACaCGCGAGACAATGAGGAG|AACTCTAAGAAGGAGCTGATGTGGAGGAGCAGCTGAGACAGTTCAAGATGACGACCACAGTAGCCACAGACTATGACAACATTGAGATCCAGCAGCAGTACAGTGATGTCAACAACCGCTGGGATGTCGACGACTGGGACAATGAGAACAGCTCTGCGCGGCTTTTTGAGCGGTCCCGCATCAAGGCTCTGGCAG___ATGAGCGTGAAGCCGTGCAGAAGAAGACCTT(CACCAAGTGGGTCAATTCCCACCTTGCCCGTGTGTCCTGCCGGATCACAGACCTGTACACTGACCTTCGAGATGGACGGATGCTCATCAAGCTGCTGGAGGTCCTCTCTGGAGAGAGGCTG___CCTAAACCCACCAAGGGACGAATGCGCATCCACTGCTTAGAGAATGTGGACAAGGCCCTTCAGTTCCTGAAGGAGCAGAGAGTCCATCTTGAGAACATGGGGTCCCATGACATCGTGGATGGAAACCACCGGCTGACCCTTGGCCTCATCTGGACCATCATCCTGCGCTTCCAG___ATCCAGGATATCAGTGTGGAAACTGAAGACAACAAAGAGAAGAAATCTGCCAAGGATGCATTGCTGTTGTGGTGCCAGATGAAGACAGCTGG___GTACCCCAATGTCAACATTCACAATTTCACCACTAGCTGGAGGGACGGCATGGCCTTCAATGCACTGATACACAAACACCG___GCCTGACCTGATAGATTTTGACAAACTAAAGAAATCTAACGCACACTACAACCTGCAGAATGCATTTAATCTGGCAGAACAGCACCTCGGCCTCACTAAACTGTTGGACCCCGAAG___ACATCAGCGTGGACCATCCTGATGAGAAGTCCATAATCACTTATGTGGTGACTTATTACCACTACTTCTCTAAGATGAAGGCCTTAGCTGTTGAAGGAAAACGAATTGGAAAG___GTGCTTGACAATGCTATTGAAACAGAAAAAATGATTGAAAAGTATGAATCACTTGCCTCTGACCTTCTGGAATGGATTGAACAAACCATCATCATTCTGAACAATCGCAAATTTGCCAATTCACTGGTCGGGGTTCAACAGCAGCTTCAGGCATTCAACACTTACCGCACTGTGGAGAAACCACCCAA___ATTTACTGAGAAGGGGAACTTGGAAGTGCTGCTCTTCACCATTCAGAGCAAGATGAGGGCCAACAACCAGAAGGTCTACATGCCCCGGGAGGGGAAGCTCATCTCTGACATCAACAAG___GCCTGGGAAAGACTGGAAAAAGCGGAACACGAAAGAGAACTGGCTTTGCGGAATGAGCTCATAAGACAGGAGAAACTGGAACAGCTCGCCCGCAGATTTGATCGCAAGGCAGCTATGAGGGAGACTTGGCTGAGCGAAAACCAGCGTCTGGTGTCTCAG___GACAACTTTGGGTTTGACCTTCCTGCAGTTGAGGCCGCCACAAAAAAGCACGAGGCCATTGAGACAGACATTGCCGCATACGAGGAGCGTGTGCAGGCTGTGGTAGCCGTGGCCAGGGAGCTCGAGGCCGAGAATTACCACGACATCAAGCGCATCACAGCGAGGAAGGACAATGTCATCCGGCTCTGGGAATACCTACTGGAACTGCTCAGGGCCCGGAGACAGCGGCTCGAGATGAACCTGGGGCTGCAGAAGATATTCCAGGAAATGCTCTACATTATGGACTGGATGGATGAAATGAAG___GTGCTAGTATTGTCTCAAGACTATGGCAAACACTTACTTGGTGTGGAAGACCTGTTACAGAAGCACACCCTGGTTGAAGCAGACATTGGCATCCAGGCAGAGCGGGTGAGAGGTGTCAATGCCTCCGCCCAGAAGTTCGCAACAGACGGGGAAG___GTTACAAGCCCTGTGACCCCCAGGTGATCCGAGACCGCGTGGCCCACATGGAGTTCTGTTATCAAGAGCTTTGCCAGCTGGCGGCTGAGCGCAGGGCCCGTCTGGAAGAGTCCCGCCGCCTCTGGAAGTTCTTCTGGGAGATGGCAGAAGAGGAAGGCTGGATACGGGAGAAGGAGAAGATCCTGTCCTCGGACGATTACGGGAAAGACCTGACCAGCGTCATGCGCCTGCTCAGCAAGCACCGGGCGTTCGAGGACGAGATGAGCGGCCGCAGTGGCCACTTTGAGCAGGCCATCAAGGAAGGCGAAGACATGATCGCGGAGGAGCACTTCGGGTCGGAGAAGATCCGTGAGAGGATCATTTACATCCGGGAGCAGTGGGCCAACCTAGAGCAGCTCTCGGCCATTCGGAAGAAGCGCCTGGAGGAGGCCTCCCTGCTGCACCAGTTCCAGGCAGATGCTGATGACATTGATGCCTGGATGCTGGACATCCTCAAGATTGTCTCCAGCAGCGACGTGGGCCACGATGAGTATTCCACACAGTCTCTGGTCAAGAAACACAAGGACGTGGCGGAAGAGATCGCCAATTACAGGCCCACCCTTGACACGCTGCACGAACAAGCCAGCGCCCTCCCCCAGGAGCATGCCGAGTCTCCAGACGTGAGGGGCAGGCTGTCGGGCATCGAGGAGCGGTATAAGGAGGTGGCAGAGCTGACGCGGCTGCGGAAGCAGGCACTCCAGGACACTCTGGCCCTGTACAAGATGTTCAGCGAGGCTGATGCCTGTGAGCTCTGGATCGACGAGAAGGAGCAGTGGCTCAACAACATGCAGATCCCAGAGAAGCTGGAGGATCTGGAGGTCATCCAGCACAG___ATTTGAGAGCCTAGAACCAGAAATGAACAACCAGGCTTCCCGGGTTGCAGTGGTGAACCAGATTGCACGCCAGCTGATGCACAGCGGCCACCCAAGTGAGAAGGAAATCAAAGCCCAGCAGGACAAACTCAACACAAG___GTGGAGCCAGTTCAGAGAACTGGTTGACAGGAAGAAGGATGCCCTCCTGTCTGCCCTGAGCATCCAGAACTACCACCTCGAGTGCAATGAAACCAAATCCTGGATTCGGGAAAAGACCAAGGTCATCGAGTCCACCCAGGACCTGGGCAATGACCTGGCTGGCGTCATGGCCCTGCAGCGCAAGCTGACCGGCATGGAGCGGGACTTGGTGGCCATTGAGGCAAAGCTGAGTGACCTGCAGAAGGAGGCGGAGAAGCTGGAGTCCGAGCACCCCGACCAGGCCCAGGCCATCCTGTCTCGGCTGGCCGAGATCAGCGACGTGTGGGAGGAGATGAAGACCACCCTGAAAAACCGAGAGGCCTCCCTGGGAGAGGCCAGCAAGCTGCAGCAGTTCCTACGGGACTTGGACGACTTCCAGTCCTGGCTCTCTAGGACCCAGACAGCGATCGCCTCGGAGGACATGCCAAACACCCTGACCGAGGCTGAGAAGCTGCTCACGCAGCACGAGAACATCAAGAACGAGATCGACAACTACGAGGAGGACTACCAGAAGATGAGGGACATGGGCGAGATGGTCACCCAGGGGCAGACCGATGCCCAGTACATGTTTCTGCGGCAGCGGCTGCAGGCCCTGGACACTGGATGGAACGAGCTCCACAAGATGTGGGAGAACAGACAAAATCTCCTATCCCAGTCACATGCCTACCAGCAGTTCCTCAGAGACACGAAGCAAGCCGAAGCCTTTCTTAACAACCAG___GAGTATGTTCTGGCTCACACTGAAATGCCTACCACCTTGGAAGGAGCTGAAGCAGCAATTAAAAAGCAAGAGGACTTCATGACCACCATGGACGCCAATGAGGAGAAGATCAATGCTGTGGTGGAGACTGGCCGGAGGCTGGTGAGCGATGGGAACATCAACTCAGATCGCATCCAGGAGAAGGTGGACTCTATTGATGACAG___ACATAGGAAGAATCGTGAGACAGCCAGTGAACTTTTGATGAGGTTGAAGGACAACAGGGATCTACAGAAATTCCTGCAAGATTGTCAAGAG___CTGTCTCTCTGGATCAATGAGAAGATGCTCACAGCCCAGGACATGTCTTACGATGAAGCCAGAAATCTGCACAGTAAATGGTTGAAGCATCAAGCATTTATGGCAGAACTTGCATCCAACAAAGAATGGCTTGACAAAATCGAGAAG___GAAGGAATGCAGCTCATTTCAGAAAAGCCTGAGACGGAAGCTGTGGTGAAGGAGAAACTCACTGGTTTACATAAAATGTGGGAAGTCCTTGAATCCACTACCCAGACAAAGGCCCAGCGGCTCTTTGATGCAAACAAGGCCGAACTTTTCACCCAGAGCTGTGCAGATCTAGACAAATGGCTGCACGGCCTGGAGAGTCAGATTCAGTCTGATGACTATGGCAAAGACCTGACCAGTGTCAATATCCTGCTGAAAAAGCAACAGGCAA___CA___ATGCTGGAGAATCAGATGGAAGTGCGGAAGAAGGAGATCGAAGAGCTCCAAAGCCAAGCCCAGGCCCTGAGTCAGGAAGGGAAGAGCACCGACGAGGTAGACAGCAAGCGCCTCACCGTGCAGACCAAGTTCATGGAGTTGCTGGAGCCCTTGAACGAGAGGAAGCATAACCTGCTGGCCTCCAAAGAGATCCATCAGTTCAACAGGGATGTGGAGGACGAGATC___TTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAG___ACCCTCCAGAAAGAAATCCAGGGGCACCAGCCTCGCATTGACGACATCTTTGAGAGGAGCCAAAACATCGTCACTGACAGCAGCAGCCTCAGCGCTGAGGCCATCAGACAGAGGCTTGCCGACCTGAAGCAGCTGTGGGGTCTCCTCATTGAGGAGACAGAGAAACGCCACAGGCGGCTGGAGGAGGCGCACAGGGCCCAGCAGTACTACTTTGACGCTGCTGAGGCCGAAGCCTGGATGAGCGAGCAGGAGCTGTACATGATGTCAGAGGAGAAGGCCAAG___GATGAGCAGAGTGCTGTCTCCATGTTGAAGAAGCACCAGATCTTAGAACAAGCTGTGGAGGACTATGCAGAGACCGTGCATCAGCTCTCCAAGACCAGCCGGGCCCTGGTGGCCGACAGCCATCCTGAAAG___TGAGCGCATTAGCATGCGGCAGTCCAAAGTGGATAAACTGTACGCTGGTCTGAAAGACCTTGCTGAAGAGAGAAGAGGCAAGCTGGATGAGAGACACAGGTTATTCCAGCTCAACCGGGAGGTGGACGACCTGGAGCAGTGGATCGCTGAGAGGGAGGTGGTCGCAGGGTCCCATGAACTGGGACAGGACTATGAGCAT___TTCACA___ATGTTACAAGAACGATTCCGGGAGTTTGCCCGAGACACCGGGAACATTGGGCAGGAGCGCGTGGACACGGTCAATCACCTGGCAGATGAGCTCATCAACTCTGGACATTCAGATGCCGCCACCATCGCTGAATGGAAGGATGGCCTCAATGAAGCCTGGGCCGACCTCCTGGAGCTCATTGACACAAGAACACAGATTCTTGCCGCTTCCTATGAACTGCACAAGTTTTACCACGATGCCAAGGAGATCTTTGGGCGTATACAGGACAAACACAAGAAACTCCCTGAGGAGCTTGGGAGAGATCAGAACACAGTGGAGACCTTACAGAGAATGCACACTACATTTGAGCATGACATCCAGGCTCTGGGCACACAG___GTGAGGCAGCTGCAGGAGGATGCAGCCCGCCTCCAGGCGGCCTATGCGGGTGACAAGGCCGACGATATCCAGAAGCGCGAGAACGAGGTCCTGGAAGCCTGGAAGTCCCTCCTGGACGCCTGTGAGAGCCGCAGGGTGCGGCTGGTGGACACAGGGGACAAGTTCCGCTTCTTCAGCATGGTGCGCGACCTCATGCTCTGGATGGAGGATGTCATCCGGCAGATCGAGGCCCAGGAGAAGCCAAG___GGATGTATCATCTGTTGAACTCTTAATGAATAATCATCAAGGCATCAAAGCTGAAATTGATGCACGTAATGACAGTTTCACAACCTGCATTGAACTTGGGAAATCCCTGTTGGCGAGAAAACACTATGCATCTGAGGAG___ATCAAGGAAAAATTACTGCAGTTGACGGAAAAGAGGAAAGAAATGATCGACAAGTGGGAAGACCGATGGGAATGGTTAAGACTGA___TTCTGGAGGTCCATCAGTTCTCAAGAGACGCCAGTGTGGCCGAGGCCTGGCTGCTTGGACAGGAGCCGTACCTATCCAGCCGAGAGATAGGCCAGAGCGTGGACGAGGTGGAGAAGCTCATCAAGCGCCACGAGGCATTTGAAAAGTCTGCAGCAACCTGGGATGAGAGGTTCTCTGCCCTGGAAAGGCTGACTACA___TTGGAGTTACTGGAAGTGCGCAGACAGCAAGAGGAAGAGGAGAGGAAGAGGCGGCCGCCTTCTCCCGAGCCGAGCACGAAGGTTTCAGAGGAAGCCGAGTCCCAGCAGCAGTG___GGATACTTCAAAAGGAGAACAAGTTTCCCAAAACGGTTTGCCAGCTGAACAGGGATCTCCACGG___ATGGCAGAAACGGTGGACACAAGCGAAATGGTCAACGGCGCTACAGAACAAAGGACGAGCTCTAAAGAGTCCAGCCCCATCCCCTCCCCGACCTCTGATCGTAAAGCCAAGACTGCCCTCCCAGCCCAGAGTGCCGCCACCTTACCAGCCAGAACCCAGGAGACACCTTCGGCCCAGATGGAAGGCTTCCTCAATCGGAAACACGAGTGGGAGGCCCACAATAAGAAAGCCTCAAGCAG___GTCCTGGCACAATGTTTATTGTGTCATAAATAACCAAGAAATGGGTTTCTACAAAGATGCAAAGACTGCTGCTTCTGGAATTCCCTACCACAGCGAGGTCCCTGTGAGTTTGAAAGAAGCTGTCTGCGAAGTGGCCCTTGATTACAAAAAGAAGAAACACGTATTCAAGCTAAG___ACTAAATGATGGCAATGAGTACCTCTTCCAAGCCAAAGACGAT___GAGGAAATGAACACATGGATCCAGGCTATCTCTTCCGCCATCTCCTCTGATAAACACGAGGTGTCTGCCAGCACCCAGAGCACGCCAGCATCCAGCCGCGCGCAGACCCTCCCCACCAGCGTCGTCACCATCACCAGCGAGTCCAGTCCCGGCAAGCGGGAAAAGGACAAAGAGAAAGACAAAGAGAAGCGGTTCAGCCTTTTTGGCAAAAAGAAATGAACTCCTTTCCTTCACCTCCTGCCCTTCTCTTACCTTTTCAGTGAAATTCCAGCATGCAAGCTCAGAACCAACACATTACTCTCTGTGCCTAATGTTCCTCAATGTGGTTGATTTTTTTTTTTTTTTAATTTATAGAGCATTTCGGGGGGGGTGGGGGAAACACACCTAAACACTTTATCTCCAAGTTACAAAAGTTTGAGGTGCAGAGGGAAGGCCAGATTTTTTTTTTAATGAAATTATATAGATTAGATCTCAGTATTTAAACTGTTCCTCAATTTTGTGAGGCTGTGTTGGAAATAACCCGCCTCTAGTGCTGTTGGTATGCAAGGCAGCGGTGCTTAATCAATATTTCCTGTGCTCACCAGAGGCAAAATGTACCAATATCCTGACACCATTCTCTCTCCATTTACTTCTGGTGGTTACCCTGACTCTTGACTCTTAGAAGTGCCCGAGATGGGGCTAACCTTTATTAAACAGATCGCATATTATGATCTTGCTGCAGCCACAGTGCAGCTCCACATTAACTCTACAGACCAAACCATTTGTATCTGGCATCACTTACTAACACACGACATGCGGCTTTTCTGCATCAACTGCTATGACGGTTAAGAATGTCAGTATACAAGAAGGAATAGAAAACTGATACTGTTTTAAATAATCTGTAATTTCAATTTTTTTTTTTTGCTGAAATACATTATATTGTACGTTTGAGATAATTCTAGTACAAAGTATAATAAAACTAGATGTATAATAAACCCTTTAAATCATTGGTAAGTGTACAAGTGGTGGAACTGAAGCATTTACTGGACAAAGTAATGTTACTCTAATGGTTACTTGCTCGTGCGTTGCCACACTGTGTTATAATTTGCTTCATTTCCTTGCTATTTGATACATAGTGTGCATTTCTCTGTCACTGTAACTATTGTAATGACAAATTTTCATCTTACTGCACAATCAAAATGACATTGATAGGAATGAACTCCAGAGGCTGGGCCTGAACAGGGAGGTGGTCGCTCAGGCCTGGTGCTCAGTCGTACGACCTGTACCTCTCAACTTTTGCCCTATCTGTTAAATATATGCTATGTCATTAAATGCTTTTAAATCTAGCACGGTGACTAGTTGTTGTTCTTCCTCTGCTGCGTGTGCATGCCCAGTAGGGAAACTGCAAAGGGAGAAATGACAAACAAGAAACATTTTACAACCAGTCTGGGCTCACTTTTGCATTTTTTATGCATGTCTGGTGCACAAGCTTTGAAAACTACAGCAAACAGTAATAAATGTGACTGTTTTGTAGTTATACATTCAGGCTTTATCTTTTATTTATGAAAAAGTTACCAGAGCACTTGTGAAACCTGAACTCTGAGATAGGGGTTGGCAAATTTGTTCTGTAAAGGGACAGAGATAGTAAATATTTTAGGCTTTGTAGGCCGTAACTGTCTCTGTTGCTCAATTCTGCTGTTGCGTAATACAAAGGCAGCCATTGACGGTATGTGAATGCCTGGGCATGGCTGTGTTCCAGTAAAACTATTTAAGGACATAAATTTGAATTTCATATAACTTTGACATGCCATACAATATTTTGATTTTCTTAATGATTTCAAAATGTAAAGTCTATTTTATACAGATCAGACCAAAAAGAAGAAAAAAAAAAAACAGGCAAGAGGTTAGGTTTGGCCCATGGGCCATAGTTTGCTGACTTCAGCATAGAGTCGTGGGTTATTTACAAGTGACATACTTTTCCTGGGTTATCTGGGTATGTTGACTCCATGCCACTTGCATAAAGCAGCAATGGATATTAGTATTATGGATGTCCAGTAAGTTATTCCACAAAGACCATGCCTAAGGTGGCATCAGCCCTGGGCTCCACAGCTGCGTGGCATCAAAGCTTTCTCTTAACTCTCTTACCTCTAGGCAAACTGAGACCTCACCATCCTCTCCCCTGCTTCCCACGACAGTCCTTTGCCCTTGCCATGCTCAGGGTTGGAATCAAGTTGTTCTATTCTCAACAGACCAAAATGTTTAGTTAAGGCAAAGTATCTTGGAAACAATTGTGATTAATTACAGTCTTGTACTCTTGACAAAGCTGTGCAGATGGCAATAAGTTCATACCAGCAATCCTGGAGTCCCATAATAAATACGTACATGTGGAACATCGTGCACATAATTTCAACAGTTCGCAGATCTGTAGTTATGAAGCCAGGGTTTGGTGGTATTTGCTCTCTCTTGGTGCATTTGATAAGGATCCACTGAGGCCTGAATGTGGAAGATGATGGGCAGCGAGAGGAGCGTCAGAAGACCCCAGTCAAGACGTGTTCGCCATCAGAGGTTACAGGCCGCACAGCCTGATGAGCTTCAAGCCTGGCAGGGTAAATAGTTTTTGGGTTTTTTGTTTTTTTTTTATTCTTCCACTATCATGTTTTTTGAGGATTTTGCATATTTCTTGTTGCCATAATGCTGTGCTATTTTACCCTGATTTTCAGTGATACAATATGGGTGACAATACTGGCCCCTCCATAAATCTGAAGAGTAAGAAGTAGTGAAAATAAGGCTTAGGATATGAAATGGCGTTGTCACTTGAATCAAGGCCACTTTTTGTCCTACTTGAGCATCTCAAGTTGGGATGCATCTTCTGATGGCACTTCCGGAACTGGCTGTGGTTTTTTTGGGTGTACCGAGAGTGCCAGTGACTGTGCTTCTTACAATTCCTGGCATCTTGAGTAGGTGAAACACTGTATCAGACTGGGTGATGGGCACATTGTCATTTCACCAAGTTCCTGGAACTGTTAGAATTGCTTGTGTATGGGGATCCTATGTTAGTTCCCCTGGATACATTGTTTTATCAGTCGGAATTCTTAAATAAAGACATACTTCCCTTC)$ MLLTQSLFGGLFPRTRETMRr|tlrrs* 06BR014 ENSG00000167637.18 ENSG00000105085.11 +/+ -/+ chr19:43831381 chr19:16624169 CDS/splice-site intron duplication/5'-5' 1 4 0 20 9 high out-of-frame . . . . ENSG00000167637.18 ENSG00000105085.11 ENST00000588797.6 . downstream upstream . ^(CTCTGGGTCCAAACTAACCACAGGTCTCTGGGTCCTTTTCCGGTGTCCTTAAGGTTCTTGGACTCTGCATG___GTTCCCTTTAGCCTGTCTTCGGGCCTGCCACAATTAAATGACCGCAAGAAAGAAGTCTATGCTAAGCCCCATAATGAACGTTTCAAGCAAGAAGGATGAGAATTTTAGATCTGGAAGTGTCCGCGGGACAGG)ATCTTGTCAAGACCTGATGGGGAAGTTCTAGAG___TGCTGCCAGGTTGCCAGATTTCTAAGAAGGAGTTTGAAGAGGAGAAAAGGATTTTTGCATGTTTAGAAATCAAGGTTCAG___GAGAATCTTGACAGTGAATGTGTCTCATTACATTGAATAACAGCTACAGGATGTTCGAGAGCTG|GATCTGAACTTAGATCTGGAAGGAGCTTTATGGGGTGCATACACCAGTTCCCAATCCCACCCTGTGGACAAcAAATCTGCAGGCAAACCAAGGTAAGCAACATCCAACCTTCCAATTCTTAGGTGGGAAAATG...TGGTCTCTGTTGCCTGAAGAGCTGTGAAAAAGAAAGCAGCTCCCAAGGACGTTTCCCGCTCAGAGCCTGGCAGCTGGAGGCACTGACACACGCGGCCAGGGCTAGTTCAAGTCCCTCTTTGCTGCGGGACCTTCTCAGGCCTCTCCCTG MFESw|i* 06BR014 ENSG00000104957.14 ENSG00000176231.2(12295),ENSG00000267392.3(17190) +/+ ./- chr19:13751811 chr19:15962645 CDS/splice-site intergenic inversion 2 3 0 99 22 high out-of-frame . . . . ENSG00000104957.14 . ENST00000586600.5 . downstream downstream . ^(ATGCGCCTCGGAGCTGGCTTCAACCAGCGAAGGCTGAACCCGCTTCCAGGGTCCTCGCCGAGCTGGGAGTTAGGATCCGAGGGGGCCAAGAGGGATAAGAAAACTTCTCTGGGTGCCCACGTGGTACTGAGCGCCCTTGGGAGGGCTCTGGAGAAGACCATCGCCTTCCAGGGTAGCTCCCTCCCTCAAAG___GGAAGGAAACTGAGGTCCAGAAAAGTTATGACTCGCCCCAAGGGGATTGCCTGGCAGGACGTGAAGGGGAAGAGGCCCACCCTGGAGTAACCCTCACTGGAGAATCCAGAG___ACACGCCGCTTTTTGGATGCCTCCTATGCCTGGCGGGAGTCTTGTCTGAGCTGGCACCACCACACGGC)CCACGACATCTTCGCAGGGAAGCCTGTGGACCCTCTGCCAGGCTCCACAAGAGGTCAGGACAGTGCAGTGTGTTCACAAGGCCAGTTTCcGATCGTCCGCCCCGAGGCTGAGGACCAGTAGGCAGCTCCCAAGATG|TGACCCAGGAACAGGCTGATGTGAAGCACAACCCGGACTTCATCCTGTGCCAGGTGTTCTGGGAATTGAGAGGAGGGTGCAGGGGGTGTAGAGGCTCCTCCCTCTTCAGCACCAGGGACAGCGACCGCCTTGAGACTCCTTG M|* 06BR014 ENSG00000167637.18 ENSG00000141979.4 +/+ -/+ chr19:43831381 chr19:16624169 CDS/splice-site intron duplication/5'-5' 1 4 0 20 9 high out-of-frame . . . . ENSG00000167637.18 ENSG00000141979.4 ENST00000588797.6 . downstream upstream . ^(CTCTGGGTCCAAACTAACCACAGGTCTCTGGGTCCTTTTCCGGTGTCCTTAAGGTTCTTGGACTCTGCATG___GTTCCCTTTAGCCTGTCTTCGGGCCTGCCACAATTAAATGACCGCAAGAAAGAAGTCTATGCTAAGCCCCATAATGAACGTTTCAAGCAAGAAGGATGAGAATTTTAGATCTGGAAGTGTCCGCGGGACAGG)ATCTTGTCAAGACCTGATGGGGAAGTTCTAGAG___TGCTGCCAGGTTGCCAGATTTCTAAGAAGGAGTTTGAAGAGGAGAAAAGGATTTTTGCATGTTTAGAAATCAAGGTTCAG___GAGAATCTTGACAGTGAATGTGTCTCATTACATTGAATAACAGCTACAGGATGTTCGAGAGCTG|GATCTGAACTTAGATCTGGAAGGAGCTTTATGGGGTGCATACACCAGTTCCCAATCCCACCCTGTGGACAAcAAATCTGCAGGCAAACCAAGGTAAGCAACATCCAACCTTCCAATTCTTAGGTGGGAAAATG...TGGTCTCTGTTGCCTGAAGAGCTGTGAAAAAGAAAGCAGCTCCCAAGGACGTTTCCCGCTCAGAGCCTGGCAGCTGGAGGCACTGACACACGCGGCCAGGGCTAGTTCAAGTCCCTCTTTGCTGCGGGACCTTCTCAGGCCTCTCCCTG MFESw|i* 06BR014 ENSG00000167637.18 ENSG00000268087.1 +/+ +/+ chr19:43831381 chr19:16624169 CDS/splice-site intron duplication 1 4 0 20 9 high out-of-frame . . . . ENSG00000167637.18 ENSG00000268087.1 ENST00000588797.6 . downstream upstream . ^(CTCTGGGTCCAAACTAACCACAGGTCTCTGGGTCCTTTTCCGGTGTCCTTAAGGTTCTTGGACTCTGCATG___GTTCCCTTTAGCCTGTCTTCGGGCCTGCCACAATTAAATGACCGCAAGAAAGAAGTCTATGCTAAGCCCCATAATGAACGTTTCAAGCAAGAAGGATGAGAATTTTAGATCTGGAAGTGTCCGCGGGACAGG)ATCTTGTCAAGACCTGATGGGGAAGTTCTAGAG___TGCTGCCAGGTTGCCAGATTTCTAAGAAGGAGTTTGAAGAGGAGAAAAGGATTTTTGCATGTTTAGAAATCAAGGTTCAG___GAGAATCTTGACAGTGAATGTGTCTCATTACATTGAATAACAGCTACAGGATGTTCGAGAGCTG|GATCTGAACTTAGATCTGGAAGGAGCTTTATGGGGTGCATACACCAGTTCCCAATCCCACCCTGTGGACAAcAAATCTGCAGGCAAACCAAGGTAAGCAACATCCAACCTTCCAATTCTTAGGTGGGAAAATG...TGGTCTCTGTTGCCTGAAGAGCTGTGAAAAAGAAAGCAGCTCCCAAGGACGTTTCCCGCTCAGAGCCTGGCAGCTGGAGGCACTGACACACGCGGCCAGGGCTAGTTCAAGTCCCTCTTTGCTGCGGGACCTTCTCAGGCCTCTCCCTG MFESw|i* 06BR014 ENSG00000167637.18 ENSG00000268790.5 +/+ -/+ chr19:43831381 chr19:16624169 CDS/splice-site intron duplication/5'-5' 1 4 0 20 9 high out-of-frame . . . . ENSG00000167637.18 ENSG00000268790.5 ENST00000588797.6 . downstream upstream . ^(CTCTGGGTCCAAACTAACCACAGGTCTCTGGGTCCTTTTCCGGTGTCCTTAAGGTTCTTGGACTCTGCATG___GTTCCCTTTAGCCTGTCTTCGGGCCTGCCACAATTAAATGACCGCAAGAAAGAAGTCTATGCTAAGCCCCATAATGAACGTTTCAAGCAAGAAGGATGAGAATTTTAGATCTGGAAGTGTCCGCGGGACAGG)ATCTTGTCAAGACCTGATGGGGAAGTTCTAGAG___TGCTGCCAGGTTGCCAGATTTCTAAGAAGGAGTTTGAAGAGGAGAAAAGGATTTTTGCATGTTTAGAAATCAAGGTTCAG___GAGAATCTTGACAGTGAATGTGTCTCATTACATTGAATAACAGCTACAGGATGTTCGAGAGCTG|GATCTGAACTTAGATCTGGAAGGAGCTTTATGGGGTGCATACACCAGTTCCCAATCCCACCCTGTGGACAAcAAATCTGCAGGCAAACCAAGGTAAGCAACATCCAACCTTCCAATTCTTAGGTGGGAAAATG...TGGTCTCTGTTGCCTGAAGAGCTGTGAAAAAGAAAGCAGCTCCCAAGGACGTTTCCCGCTCAGAGCCTGGCAGCTGGAGGCACTGACACACGCGGCCAGGGCTAGTTCAAGTCCCTCTTTGCTGCGGGACCTTCTCAGGCCTCTCCCTG MFESw|i* 06BR014 ENSG00000105085.11 ENSG00000159871.15(3280),ENSG00000167637.18(3407) -/- ./- chr19:16627872 chr19:43823914 CDS/splice-site intergenic duplication 1 2 0 19 4 high out-of-frame . . . . ENSG00000105085.11 . ENST00000263390.8 . upstream downstream duplicates(1) ^(ACTGGAGTTTGGTTCTCGAGGCGGCGGCAGCGAGCGGCGGCGGCTCCGGCGGCTCCTCCTCCTCCTTTGGTGGCGGCGGCGGCCCGGGACCGAGACCCGGCCCCGGCTCCCCTCTCCGCCACCCCGCGCGCCCCCAACCCCCCGGCGCCGCGGGGAACATGCGGCTCCGGCTCCCGGAGGCCGGCGAGTGAGTGACCCCCGTCCCCCGCCTCAGCCCGCCCGCCCGCTGGCCCGGCCGCAACC)CCCCGCCTCGCCCAGGCAATGACAGCGGCTCCGGCGTCTCCGCAGCAGATCAGGGACCGGCTGCTGCAGGCCATCGACCCCCAGAGCAAC|ATGTTGTAAAAGTTGTTGAGTTCTGGATTTGATTCTCAGCTTGGTCGCTGTTGGTGCATAGAAGAGCTACTAATTTGTGTACGTCGGAAACTTTGCCGAATTGGAC MTAAPASPQQIRDRLLQAIDPQSN|ml* 06BR014 ENSG00000104957.14 ENSG00000176231.2 +/+ +/- chr19:13751811 chr19:15949573 CDS/splice-site CDS inversion/3'-3' 2 1 0 99 5 high out-of-frame . . . . ENSG00000104957.14 ENSG00000176231.2 ENST00000221554.13 . downstream downstream . ^(ACCGCGCTCTCAGCGCGCACTTCCGGGCACGGTCAGGGCGTGA)CGTCGGGAGGAGGGCAG___ACACGCCGCTTTTTGGATGCCTCCTATGCCTGGCGGGAGTCTTGTCTGAGCTGGCACCACCACACGGCCCACGACATCTTCGCAGGGAAGCCTGTGGACCCTCTGCCAGGCTCCACAAGAGGTCAGGACAGTGCAGTGTGTTCACAAGGCCAGTTTCcGATCGTCCGCCCCGAGGCTGAGGACCAGTAGGCAGCTCCCAAGATG|GCCAACTTCAAGAGGGAAAGCACATGACAGAAAAAATGGTGGATCACATTAGACCCACAGAAAGTGAGGTGGAAAACTATCGTTGTCACCATCATCCCCATGACTGAGCCACCAGCCCAGGTACAGGCCACAAGATGGGCACAGTCACGG M|anfkrest* 06BR014 ENSG00000141979.4 ENSG00000159871.15(3280),ENSG00000167637.18(3407) -/- ./- chr19:16627872 chr19:43823914 CDS/splice-site intergenic duplication 1 2 0 19 4 high out-of-frame . . . . ENSG00000141979.4 . ENST00000409035.1 . upstream downstream duplicates(1) ^(ACTGGAGTTTGGTTCTCGAGGCGGCGGCAGCGAGCGGCGGCGGCTCCGGCGGCTCCTCCTCCTCCTTTGGTGGCGGCGGCGGCCCGGGACCGAGACCCGGCCCCGGCTCCCCTCTCCGCCACCCCGCGCGCCCCCAACCCCCCGGCGCCGCGGGGAACATGCGGCTCCGGCTCCCGGAGGCCGGCGAGTGAGTGACCCCCGTCCCCCGCCTCAGCCCGCCCGCCCGCTGGCCCGGCCGCAACC)CCCCGCCTCGCCCAGGCAATGACAGCGGCTCCGGCGTCTCCGCAGCAGATCAGGGACCGGCTGCTGCAGGCCATCGACCCCCAGAGCAAC|ATGTTGTAAAAGTTGTTGAGTTCTGGATTTGATTCTCAGCTTGGTCGCTGTTGGTGCATAGAAGAGCTACTAATTTGTGTACGTCGGAAACTTTGCCGAATTGGAC MTAAPASPQQIRDRLLQAIDPQSN|ml* 06BR014 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 10 3 2 187 39 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream duplicates(2),mismappers(1),mismatches(1) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCATCGACAGGGAAAACTTCGTGGACATTGTTGATGCCAAG___T)TGAAGATTCCTGTCTCTGGATCCAAATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGGCCCCTTTCAGAG___GTGGCACCTTGACGAGGTCTTTTTAGAGCTCAAGGATGGTCAGCAGATTCCTGTGTTCAAGCTCAGTGGGGAAAACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCATAGTGGACCTTTATTGTCTCCTGAGCACCCATTCTTTGTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCTCTTCCTCCAGAGTTGGAGCCTATGACACTGATGACACTGGCATGGAAAGCCAAAGC . 06BR014 ENSG00000047932.14 ENSG00000119899.13 -/- -/- chr6:117602004 chr6:73638499 CDS/splice-site CDS/splice-site deletion 7 0 0 76 60 medium in-frame . |Major_Facilitator_Superfamily(100%) . . ENSG00000047932.14 ENSG00000119899.13 ENST00000535237.2 ENST00000355773.6 upstream downstream duplicates(1) ^(ACGCATGCGCAGCGGGGGCAGGCTGGGAGGTGGGACTGACTGAGTCTTCCGTGTGTCGCCGCCGTTGCCGCCTCAGCTTCAGCCTCGTTACTCCTGCGGTTCTGTGACTGTGCTGCTGGCGTTAACGGCGCGAGGTGAAGGGAGGTGACGGAGTGTGCCCGCGCGCGCGGGGGTCCCCTCAGTCCCAGCAGTTCCCTTCGTGCGCGGGGGGCGGCGAGGGTCTTCAGCAGTCG)GGAGAGGCCCTTGACGGCGCCATGTCGGCGGGCGGTCCATGCCCAGCAGCAGCCGGAGGGGGCCCAGGGGGCGCCTCCTGCTCCGTGGGGGCCCCTGGCGGGGTATCCATGTTCCGGTGGCTGGAGGTGCTGGAGAAGGAGTTCGACAAAGCTTTTGTGGATGTGGATCTGCTCCTGGGAGAGATCGATCCAGACCAAGCGGACATCACTTATGAGGGGCGACAGAAGATGACCAGCCTGAGCTCCTGCTTTGCACAGCTTTGCCACAAAGCCCAGTCTGTGTCTCAAATCAACCACAAGCTGGAG|GGTGTTACATTTCCAGCCATGCATGCCATGTGGTCTTCTTGGGCTCCCCCTCTTGAAAGAAG(CAAACTTCTTAGCATTTCATATGCAG___GAGCACAGCTTGGGACAGTAATTTCTCTTCCTCTTTCTGGAATAATTTGCTACTATATGAATTGGACTTATGTCTTCTACTTTTTTG___GTACTATTGGAATATTTTGGTTTCTTTTGTGGATCTGGTTAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACATTCTTTCATCATTAAGAAATCAG___CTTTCTTCACAGAAGTCAGTGCCGTGGGTACCCATTTTAAAATCCCTGCCACTTTGGGCTATCGTAGTTGCACACTTTTCTTACAACTGGACTTTTTATACTTTATTGACATTATTGCCTACTTATATGAAGGAGATCCTAAGGTTCAATGTTCAAGAG___AATGGGTTTTTATCTTCATTGCCTTATTTAGGCTCTTGGTTATGTATGATCCTGTCTGGTCAAGCTGCTGACAATTTAAGGGCAAAATGGAATTTTTCAACTTTATGTGTTCGCAGAATTTTTAGCCTTATAG___GAATGATTGGACCTGCAGTATTCCTGGTAGCTGCTGGCTTCATTGGCTGTGATTATTCTTTGGCCGTTGCTTTCCTAACTATATCAACAACACTGGGAGGCTTTTGCTCTTCTGGATTTAGCATCAACCATCTGGATATTGCTCCTTC___GTATGCTGGTATCCTCCTGGGCATCACAAATACATTTGCCACTATTCCAGGAATGGTTGGGCCCGTCATTGCTAAAAGTCTGACCCCTGAT___AACACTGTTGGAGAATGGCAAACCGTGTTCTATATTGCTGCTGCTATTAATGTTTTTGGTGCCATTTTCTTTACACTATTCGCCAAAGGTGAAGTACAAAACTGGGCTCTCAATGATCACCATGGACACAGACACTGAAGGAACCAATAAATAATCCTGCCTCTATTAATGTATTTTTATTTATCATGTAACCTCAAAGTGCCTTCTGTATTGTGTAAGCATTCTATGTCTTTTTTTAATTGTACTTGTATTAGATTTTTAAGGCCTATAATCATGAAATATCACTAGTTGCCAGAATAATAAAATGAACTGTGTTTAATTATGAATAATATGTAAGCTAGGACTTCTACTTTAGGTTCACATACCTGCCTGCTAGTCGGGCAACATGAAGTAGGACAGTTCTGTTGATTTTTTAGGGCCATACTAAAGGGAATGAGCTGAAACAGACCTCCTGATACCTTTGCTTAATTAAACTAGATGATAATTCTCAGGTACTGATAAACACCTGTTGTTGTTCACTTTCCTCATAAAAATTGTCAGCTCTCTCTGACACTTAGACCTCAAACTTTAGCATCTCTGTGGAGCTGCCATCCACTGTATAATTTCGCCTGGCAACTGGACTGAGGGGAGTGTGCCCAGGCAGCTGCCAAGCACTCCCTCCCTGGCTTCAGGGTCAGAGTGCCCAGCGTTTATCAGAGGCAGCATCCAAGCCCAGAGCCAGTGTCGACTCTTCGGCTGGTGCCTTTCCTCTGAGGGGCTATCAATGTGTAGATAAAGCCCTGAGTAGGCAAGAGCAGTGAGATCCACTGCTATGGTCTTGATACATCCTCAAACTTTCCCTTCCCAGCACAGAGGAATATTGGCTGGCATGCAACCTGCAAAAGAAAAATGCGAAGCGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGTGGGCGAATCATGAGATCAGGAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGACGGGCGCCTGTAATCCCAGATACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAAGTTGCAGTGAACCAAGATCACGCCACTGCACTCCAGCCTGGGCGATGGAGCGAGACTCCAACTCAAAAAAAAAAAAAGAATAAAGAAAGAAAAGTGCGATGCCCAGTCAATCACAAATAAGATCATCCTGGTTTAAATCTACTCTCACATGGATCACAGTATAAATTTCTATGTGCTGTGTTTTGTTCGTTTGTATTTTGTAGAGATGGGGTCTCGTTTTGTCGCCCAGGCTGGTTTTGAACTCCTGGCTTCAAGCGATCCTCCTGTCTCGGCCTCACAAAGTGTTGAGACTACAGGCATGAGCCACTGTGCCCAGCCTGTTCTATGTTTTTAAGCTACACGAGAATTTTTTTTTTAATTAATTCTCACTGTTTGTTCAGTCTGTCTTCATCTAAGTTTGTGTTGCAGTTTAAAGTTAAAGTGACTTTTAAAGGCCACATCACCTGAGACTAGGGTAATCATCTTTACTTCTGGTTCCTGAAATCATATTTTTCCAGTGGACCATCCTCCAGTGGCTGTGGTTGTTGAGCATGCTTTCAGAACACCTATGTGGCTTAAAACTTAGTTTATGTTTTGTGTTCAACACTACGTGTAATATTTTAAAACTGTTTAATGTGATGTGAATACATTTATGTACATTTATTTTTAAATTTGTAAATAGCTTTAAATTGCTATGGCAATGTTTCTTTTATAAATCATCAAAATAAACCTTTGTGAATTGA)$ MSAGGPCPAAAGGGPGGASCSVGAPGGVSMFRWLEVLEKEFDKAFVDVDLLLGEIDPDQADITYEGRQKMTSLSSCFAQLCHKAQSVSQINHKLE|GVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH* 06BR014 ENSG00000260019.2 ENSG00000232859.9 -/- -/- chr17:27906163 chr17:27882712 exon 5'UTR/splice-site deletion/read-through 3 1 0 17 38 medium . . . . . ENSG00000260019.2 ENSG00000232859.9 ENST00000661257.1 ENST00000460380.6 upstream downstream . ^(GCAAAGCTACTATTTACTGAGCATTTCCCATAAGGTCAAAAGAACCACTTGGAACACTCATTCAGCATACAGATTCTGAGCCCCTCCCTGAAGATCTGATTCACTAGGCTTGGTGTAAAGTCCTGGAACCCATAGATTTAACAGGAGCCCTCCACTGGCATATATTATGGGAAATAGTTTGGGAAGTAGTGCTTTACATGATTTATGTCAAGTAATTATTACAATTGCTCTCTGAAGCCGCTACCATGATTATCTCAATTTTACAGATGAAGAAACCAGCTCAGAGTATAAGATATGGTATACCTAAGTCAAATAGTTAATAAACAGGAGCGCTGCTGACTCTGGCACCCAGGACTGCTTGTCTTCAAAGCCAG___GACTCCGACTACTGAAGGCCCAAGACTCTTGGCGGTCTGAATCTGGGGTCCCAGCTGCCTTGCCAGGATGGCAGATATCTCTCCACTAATGCAGGTGTCTTAGAAG___TTCCAGTGGCTAGAATTCCAAGATCAAGGTGTCAGCAGCATGGTTCTTTCTGAGAGCTGTGAAGAAGAATCCGTTCCATGCCTCTCCCCCAGTTTCTGGTGGTGTGCTGGCAGTCTTTGGCATTCTTTGGCCTGCAGACGCATCACCCTAATCTCAG___CCCAGCTCCGGAACGCCTTTCCCATGTTTGGTGTGTTTTCTACCTAATGAGTTTTGATG)GAAGTGAAGGCTGTTATTTACCTCTGGAAGCTAAAAATACCAGCTCCCTGGTCATCTCAG___ATTTCTTCTTGTCATGCTGGGGCCCCAGAGATGCTGCCTGTGTACTGGGAGAG|GGACAGAGGGTCTCACGGATGGCCCCGCTGCCAGGAGCAGAACTGGTTCGGAGGCCACTGCAGCTCTACCGATACTTGCTGCGCTGTTGCCAGCAGCTGCCGACCAAG(GGCATCCAGCAGCATTACAAGCATGCTGTCAGGCAG___AGTTTTCGGGTTCATTCAGATGAAGACAACCCTGAGAGAATCCAGCAGATTATTAAAAGAGCCATTGAAGATGCTGACTGGATCATGAACAAAGTAGGTGCTTGGCCCCTGGGCTCTGCCTGCGAGCTGGGGTGATGATGGCTGTGATCCCCATGACCACTAGAGGCCACTCCTGCCCCACAGTTGAGAATGGTCCCTGTGGAGGAGGCCACCAGCCAGCTGCTTCCCTCCTCCAGAAGCTGAAAGGTGAAGACAAATCCCTTCTGGTTGCATTTATATTCTGCAAGTGGGGAGGGGCTCTCACTCTTCATCCTTAAAGGCAAATTTCTGCCCAACAGTGCTGATCGAGCTGAGAGGGGGCAGCAGGAAGAAGGAGGGAAAGCTATAGTGCCAGAGCCGGCGGTGGCACTGTGATGCCGCAGAGAGGGAAGCTGTCCTGGCGGGGGACTCCCTGTCTCTGGGGGGTATTCACACTGGGGCAGAATTATGGAGGAAACATTCAGTATGTTTTGGTGGAGGAAGGGAGTGAGTCAGGAATGTAGACTGGCGTCTTGGCCCTTAGATGCTGGTATTAGAAGGACCTAGAGAGTTGGAGTGTGACCATACCTCCCTGTCCTTCTAACTCACTCTCCAGAGTGAGTTATCACTATCCTCCCTCCCCAGCCCTGTCAGCTTCCTTTTTCACTAAAGAAGAAAGGGAGTCCAGGCATGAACTAGAGATTTGGCTGCCCAGTGCCTCCTGCTTGGGTTTCACCACCTCCAAGAAGCCCCTGCAGGAGGCAGGTGAGGTCCAGATGATGGAGGCCTGAGATTTCTCCAGAGTCCTCCTGCCCCTGTTGGCTTCCCTCCTCCACTTCGAATCTCTCTGTCTTGCAGTATAAAAAACAAAACTGAGAGCTCCGAGGGTGAGCCTTCCTGGCCTCTGGAAGTTGAGAGGCCCCTCTTCTGGAGCTCAGCAGCAGCAGCTGGTTTGGAAGAGCCATTGGCCTTGTTGGCTGAAAGCCAGAAATCAGGGGAGAAGCTGACCTTGCTCCAGAGGCTCCTCTTGCCGCGGCCATGTTGCTAGCATCCTTTATGTTTGCACTTCCAGCCACTTACGATGTGAAATTTGGGGAGAATGTAGTATTTTTTTGCTTCTTTTGTGTGTTTTTTATTTTTGTGTTTTTGTTCTTTTACTTTTCTCTGAAAGTGATTCATTTATTCTGGAGATCTCTTTATCATTCTCTGAGTCCCAGAGCAGATGTCCCCTCAGGTAGCAACCTGTACAGAAGAAAGCACGTGGGTTTTAGAACCAGACAGATCTGGATTTGAATCCCAGATGCAATAAGATGAAGGTGAAGTGCCTCACACAGGATGTGGCACATGACAGTGCCTGAAGGGCTCCCTTCAAGGAAGCCGTCCTGCCCCGCCCCCTCCTCTGCTCCTGCAGCGCCCTGCACAGCTCTGCTCCCCGCATGCACCGCATCGGGTCTCAGTTTTTTGTTTGCGAGCTTGCCCTGTCCCTGCTTGTAGCCCCTGAGCCCTCACAGTTGTCACACACCCAGCAGTCTGCCAAGGAGCTGCTTTTCCTGACTACTGTCTCTCCATGCCTAGGGAAGTCAAAGCCCTGGGCCTTGCCTTCAGGGAGTTGACAGTGTCCTTGAAGTGGTGAAGTGCCCACCACATGAACCAAGGAGAGACGCCAAAGCAGCTGCCATGGACTCTGGCCTGTCCAAGCCTCTGTGCACCTGCAGTCTCTTTCCACTGGCACTTCCCTGCTTTGCTACCATCGTGGAAGAATGGAAGGGAGGGGGAGAAGGTGGGTGGGCTCAGGGAGAACGGCCAGAGTGGCCAGAAGATGCAGAGAGAAGCCCCACTGGGATCTGAGTATTCCCCAAGGGCACTCAGCCACAGGGATGAACTAGTGTTTGTTTGTATCCTTGCAGTTATGTGACTTAAAGTGACTCAGAGATATCTATGTATGCGAGTGTACTCCGCTGGCAATGAAGTAAATATATCAATTTGTGGAA)$ . 06BR014 ENSG00000260019.2 ENSG00000266202.1 -/- -/- chr17:27906163 chr17:27882712 exon 5'UTR/splice-site deletion/read-through 3 1 0 17 38 medium . . . . . ENSG00000260019.2 ENSG00000266202.1 ENST00000661257.1 ENST00000582441.1 upstream downstream . ^(GCAAAGCTACTATTTACTGAGCATTTCCCATAAGGTCAAAAGAACCACTTGGAACACTCATTCAGCATACAGATTCTGAGCCCCTCCCTGAAGATCTGATTCACTAGGCTTGGTGTAAAGTCCTGGAACCCATAGATTTAACAGGAGCCCTCCACTGGCATATATTATGGGAAATAGTTTGGGAAGTAGTGCTTTACATGATTTATGTCAAGTAATTATTACAATTGCTCTCTGAAGCCGCTACCATGATTATCTCAATTTTACAGATGAAGAAACCAGCTCAGAGTATAAGATATGGTATACCTAAGTCAAATAGTTAATAAACAGGAGCGCTGCTGACTCTGGCACCCAGGACTGCTTGTCTTCAAAGCCAG___GACTCCGACTACTGAAGGCCCAAGACTCTTGGCGGTCTGAATCTGGGGTCCCAGCTGCCTTGCCAGGATGGCAGATATCTCTCCACTAATGCAGGTGTCTTAGAAG___TTCCAGTGGCTAGAATTCCAAGATCAAGGTGTCAGCAGCATGGTTCTTTCTGAGAGCTGTGAAGAAGAATCCGTTCCATGCCTCTCCCCCAGTTTCTGGTGGTGTGCTGGCAGTCTTTGGCATTCTTTGGCCTGCAGACGCATCACCCTAATCTCAG___CCCAGCTCCGGAACGCCTTTCCCATGTTTGGTGTGTTTTCTACCTAATGAGTTTTGATG)GAAGTGAAGGCTGTTATTTACCTCTGGAAGCTAAAAATACCAGCTCCCTGGTCATCTCAG___ATTTCTTCTTGTCATGCTGGGGCCCCAGAGATGCTGCCTGTGTACTGGGAGAG|GGACAGAGGGTCTCACGGATGGCCCCGCTGCCAGGAGCAGAACTGGTTCGGAGGCCACTGCAGCTCTACCGATACTTGCTGCGCTGTTGCCAGCAGCTGCCGACCAAG(GGCATCCAGCAGCATTACAAGCATGCTGTCAGGCAG___AGTTTTCGGGTTCATTCAGATGAAGACAACCCTGAGAGAATCCAGCAGATTATTAAAAGAGCCATTGAAGATGCTGACTGGATCATGAACAAA___AATTCACCTGCTGCATCCATCATCAGAAGAGGCCAGGAATGCGGCCTGCTGGGTGGGCAGGGCCAAGAAGAAGGCAGCCGTGCAGGCCCAGGAAGCCGTAGGAGACTTGCCAACCTCCAGGAGGGGGCCAGCCCTGGACCCTGCAGACAGGCGCTCTGGGGAGGGTACCAGAAGCTCACTGTTTGTCCCGGCTTGAAGGCTGTTTGCTGTGTGACCTTG___CCCCACAGTGAAGAACATCTGAGCTCAAATCCAGATAAGTGACATAAGTGACCTGCTTTGTAAAGCCATAGAGATGG)$ . 06BR014 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51877282 chr19:51855967 CDS/splice-site intergenic deletion/read-through 1 1 1 137 49 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTAT)CAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAGACCATCAGCCTTCAACCACCACCCTTGTATCAGAGGAGACAAATAAGCTTGGAAATCCTCAAAAAGCCTCATCCTCAGAGCAATGTCATTATATATCTTGTCTTACAGCTC MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|dlhyrwktaasepq* 09BR001 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 10 23 0 86 93 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(12),low_entropy(1),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___G)GGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 09BR001 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 9 0 116 80 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(9) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTT)GATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATaAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGaTC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHkHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09BR001 ENSG00000197124.12 ENSG00000118369.13 -/- +/+ chr19:20004636 chr11:78213646 3'UTR CDS/splice-site translocation 3 2 2 118 293 high stop-codon . C2H2-type_zinc_finger(100%),KRAB_box(100%),Zinc_finger__C2H2_type(100%)| . . ENSG00000197124.12 ENSG00000118369.13 ENST00000397165.7 ENST00000529308.6 upstream upstream duplicates(2) ^(GCCTTTGTCTCGCTCCAGCCAGAGCTCAGGGTCCATCTTCATTGCTTAGTATCCTCTGCTCTAGTAGTTCCCGGTGACTGTCGCAGCCTCTGTTGCCCTCTGACTTGCAGATGCTGTGAGATCCAGAGCTAAGACTCCACGACATCCCGGAAGCCGAAAAATG___GAACTGTTGACATTCAGGGATGTGACCATAGAATTCTCTCTGGAGGAGTGGGAGTTTCTGAACCCTGCTCAGCAGAGTTTGTATAGGAAAGTGATGCTAGAGAACTACAGAAACCTGGTCTCTCTGG___GTCTTACTGTTTCTAAGCCAGAACTGATTAGCCGTCTGGAGCAAAGACAGGAGCCCTGGAATGTGAAGAGACATGAGACCATAGCCAAACCCCCAG___CTATGTCTTCTCATTACACTGAAGACCTTTTGCCAGAACAGTGCATGCAAGATTCATTCCAAAAAGTGATAC)TGAGAAGATATGGAAGCTGTGGACTTGAGGATTTACACTTAAGGAAGGATGGGGAAAATGTGG___TGTCTGTATGAAAGCATGTGGTCAATTTCTGCTGCTCGGGGTTTGAGAAGTTCTATATTAGGATGTCATTTACATACTTTTCAACAGAAGATTGAGGACACTGAAATATGAG|GAGCAGGAGAAGGAGGCCCGGAGCAGGGCGGCCTACATCTCTGCACTCCCCACATCTCCGCACTGGGGGAGGGGCTTTGATGAAGACAAGGATGAGGATGAAGGCTCTCCAGGGGGCTGCAATCCTGCAGGTGGCAATGGTGGTGACTTCCACAGACTGGTCTTCTAATGTGAACCTGCTGCCAACCTGACCCCTTCCCTCCAGGAGCCAGGTAGGGCCTGAGGGAAGCTGTGGAGGCAGGCC(CTACCAAGAGGAAGGATGGTACAGCTCATGGCACCTTAGTCCTCAGCCTGATGAAGGGTACACAGAGATTCTCTCAGATATGGAAGTAAGACCTAAGTCCCTTTCATTGGGGATCAGTCCCATTAAAACTTTACACCCAAGTGTCCTGGTTAACTTGAAGCAGCCGAGATGGGCACACACGGGTCTTTGCCTCCCCCTCCTTCCCTAGCAGGCTCCCCATGCGGGAAGATCTGATGATGTTCAGGAAACAGGCTAGACCTCAGCTCCAATGTTTTGACATCAAGTACTATTTTCCTTCCGACTGCTGTACGGTATAAAGCACAGCAGGATCCAAGCCTTGCACAAAGGGGTGGGGGGGGCAGTGTCTCCTCTGGCTGTCCTGTTTGTTTGTTTCTCATATGGGGGTGGGGGGTACCTGCACTGTCTGTACCTTTCTGAGAAGAACAGAGACCGAGACCTGCCCCCTTACCAAGCGCCACTGCATGGTTTTGGGGGGGGGGGCGGGGGGCTAGCTTCTCACAGCAGGAGGCCTTTGCCCCCACAGCCCCTCCACGCCTGCCTCAGGGCCTGAGAAGCCACCACTTGTATCCCCCTTGTGGTTAGAGTCCTGATTTTACTGCAAAGGTGTTCATGTTCCTTGTGAAGTGTGGGCTCTTAGGAAGCCTGTGGGCTCCTCTGAGCAGTTGGCCTTTGTAGCTGCAACAGCAGCCACCTGCAGGTTGGGTGAAGTGCCCTGACACTGCTGTAGCCCCCTTCTAACTTCTAACCGAAGACAAGACAGACACCCATGTTCATAAATAAATAAAAGTAAGCCTAAGCAAGAGATTGTTCTTCCTTGGACTCAGGGGCTGTGATGGCCACTGGGTTTTGCTCACGGGGTCTGGGGAGGCCAGGACTCAGCCTGCCCCCCAGTGACGTGTGAGATGCCACAGGGAGCCAAGAGCCCTCTACTGAATCTACTGAAGTGGGGTGTAAGTAAACGTGTGGACTGACTGACTTACTTACCTTACTGAGGGCTGGGTGATGCTGCCCGTGGAGAGGATGCACCTGGGAGGCAGCTCTCAAGCCTTTACCTACCTCCTTCCCCAGGGGCTGCCTGCTGTGATGGTGGTGTGGAGTTTGGGCCCAATGTCACAGACCCTCAAGATGTCACATCTAAGTGACCTGTGAAAGCAGCAGACAGACACGCCCAGAACCCATCTCTAGACGCCTAAGAAAGCTGGATGGGTAAATGCTAGTATGATTTCCACTTTACAACAGACGCTGAGGTAGAGAGCATTTGTTCTTATTCACAGCCAAGAAAAATACCCAATTATTTCCAAATAAAGCAAAAATTGGAACAGA)$ . 09BR001 ENSG00000197124.12 ENSG00000118369.13 -/- +/+ chr19:20023004 chr11:78213646 CDS/splice-site CDS/splice-site translocation 3 3 1 22 293 high out-of-frame . KRAB_box(100%)| . . ENSG00000197124.12 ENSG00000118369.13 ENST00000596019.5 ENST00000529308.6 upstream upstream duplicates(3) ^(ATTGCTTAGTATCCTCTGCTCTAGTAGTTCCCGGTGACTGTCGCAGCCTCTGTTGCCCTCTGACTTGCAGATGCTGTGAGATCCAGAGCTAAGACTCCACGACATCCCGGAAGCCGAAAAATG___GAACT)GTTGACATTCAGGGATGTGACCATAGAATTCTCTCTGGAGGAGTGGGAGTTTCTGAACCCTGCTCAGCAGAGTTTGTATAGGAAAGTGATGCTAGAGAACTACAGAAACCTGGTCTCTCTGG___GTCTTACTGTTTCTAAGCCAGAACTGATTAGCCGTCTGGAGCAAAGACAGGAGCCCTGGAATGTGAAGAGACATGAGACCATAGCCAAACCCCCAG|GAGCAGGAGAAGGAGGCCCGGAGCAGGGCGGCCTACATCTCTGCACTCCCCACATCTCCGCACTGGGGGAGGGGCTTTGATGAAGACAAGGATGAGGATGAAGGCTCTCCAGGGGGCTGCAATCCTGCAGGTGGCAATGGTGGTGACTTCCACAGACTGGTCTTCTAATGTGAACCTGCTGCC(AACCTGACCCCTTCCCTCCAGGAGCCAGGTAGGGCCTGAGGGAAGCTGTGGAGGCAGGCCCTACCAAGAGGAAGGATGGTACAGCTCATGGCACCTTAGTCCTCAGCCTGATGAAGGGTACACAGAGATTCTCTCAGATATGGAAGTAAGACCTAAGTCCCTTTCATTGGGGATCAGTCCCATTAAAACTTTACACCCAAGTGTCCTGGTTAACTTGAAGCAGCCGAGATGGGCACACACGGGTCTTTGCCTCCCCCTCCTTCCCTAGCAGGCTCCCCATGCGGGAAGATCTGATGATGTTCAGGAAACAGGCTAGACCTCAGCTCCAATGTTTTGACATCAAGTACTATTTTCCTTCCGACTGCTGTACGGTATAAAGCACAGCAGGATCCAAGCCTTGCACAAAGGGGTGGGGGGGGCAGTGTCTCCTCTGGCTGTCCTGTTTGTTTGTTTCTCATATGGGGGTGGGGGGTACCTGCACTGTCTGTACCTTTCTGAGAAGAACAGAGACCGAGACCTGCCCCCTTACCAAGCGCCACTGCATGGTTTTGGGGGGGGGGGCGGGGGGCTAGCTTCTCACAGCAGGAGGCCTTTGCCCCCACAGCCCCTCCACGCCTGCCTCAGGGCCTGAGAAGCCACCACTTGTATCCCCCTTGTGGTTAGAGTCCTGATTTTACTGCAAAGGTGTTCATGTTCCTTGTGAAGTGTGGGCTCTTAGGAAGCCTGTGGGCTCCTCTGAGCAGTTGGCCTTTGTAGCTGCAACAGCAGCCACCTGCAGGTTGGGTGAAGTGCCCTGACACTGCTGTAGCCCCCTTCTAACTTCTAACCGAAGACAAGACAGACACCCATGTTCATAAATAAATAAAAGTAAGCCTAAGCAAGAGATTGTTCTTCCTTGGACTCAGGGGCTGTGATGGCCACTGGGTTTTGCTCACGGGGTCTGGGGAGGCCAGGACTCAGCCTGCCCCCCAGTGACGTGTGAGATGCCACAGGGAGCCAAGAGCCCTCTACTGAATCTACTGAAGTGGGGTGTAAGTAAACGTGTGGACTGACTGACTTACTTACCTTACTGAGGGCTGGGTGATGCTGCCCGTGGAGAGGATGCACCTGGGAGGCAGCTCTCAAGCCTTTACCTACCTCCTTCCCCAGGGGCTGCCTGCTGTGATGGTGGTGTGGAGTTTGGGCCCAATGTCACAGACCCTCAAGATGTCACATCTAAGTGACCTGTGAAAGCAGCAGACAGACACGCCCAGAACCCATCTCTAGACGCCTAAGAAAGCTGGATGGGTAAATGCTAGTATGATTTCCACTTTACAACAGACGCTGAGGTAGAGAGCATTTGTTCTTATTCACAGCCAAGAAAAATACCCAATTATTTCCAAATAAAGCAAAAATTGGAACAGA)$ MELLTFRDVTIEFSLEEWEFLNPAQQSLYRKVMLENYRNLVSLGLTVSKPELISRLEQRQEPWNVKRHETIAKPP|gageggpeqgglhlctphisalgegl* 09BR001 ENSG00000102172.16 ENSG00000288546.1 +/+ -/+ chrX:21940873 chrX:22652691 CDS/splice-site intron deletion/5'-5' 3 1 0 12 11 high out-of-frame . . . . ENSG00000102172.16 ENSG00000288546.1 ENST00000404933.7 . downstream upstream . ^(AGTCCTGGCCTCCCCGGGCGCAGCACACTCCCAGCCGGCCGCAGC)CTGACACGCCGCGCGGCCCCCCAGTCTCCCGCGGCTGCTCCCCCAGGCATGGCACAGGGCCTCGCCTCACTATGGCAGCAGCACGGCACAGCACGCTCGACTTCATGCTCGGCGCCAAAG|ACCTGCAAGGCCGGGAATGCTGAAACAGAGTGACAGCCAATCAAGTGCTTCTGCCTGTGGACTTCAGCATCT___CCGTTGTATCATTATCAACAGCAATGTATGAGAGCCGTG MAAARHSTLDFMLGAK|dlqgrec* 09BR001 ENSG00000162129.14 ENSG00000167791.14(2137),ENSG00000283257.1(12245) -/- ./+ chr11:72329707 chr11:67526654 CDS/splice-site intergenic inversion 2 1 0 22 4 high out-of-frame . Ankyrin_repeat(100%),Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%)| . . ENSG00000162129.14 . ENST00000294053.9 . upstream upstream duplicates(2) ^(GTTGGACGTGGTCAGCACAGGGGCCGGCACCACGGGGTTATCGAAGCAGCTGTCAAGATGCTGGGGTCCCTGGTGTTGAGGAGAAAAGCACTGGCGCCACGGCTACTCCTCCGGCTGCTCAGGTCCCCAACGCTCCGGGGCCATGGAGGTGCTTCCGGCCGGAATGTGACTACTGGGAGTCTCGGGGAGCCGCAGTGGCTGAGGGTAGCCACCGGGGGGCGCCCTGGAACATCGCCGGCCTTGTTCTCCGGACGTGGGGCAGCCACCGGGGGGCGCCAGGGAGGACGCTTCGATACCAAATGCCTCGCGGCTGCCACTTGGGGACGCCTTCCTGGTCCCGAAGAAACACTCCCAGGACAGGACAGCTGGAACGGGGTCCCCAGCAGGGCCGGACTGGGCATGTGCGCCCTGGCCGCAGCGCTGGTGGTTCATTGCTACAGCAAGAGTCCGTCCAACAAGG___ATGCAGCCCTGTTGGAAGCTGCCCGTGCCAACAATATGCAAGAAGTCAGCAG___GCTGTTGTCAGAAGGTGCAGATGTCAATGCAAAGCACAGACTTGGCTGGACAGCACTCATGGTGGCAGCCATCAACCGAAACAACAG___TGTGGTACAGGTCCTGCTTGCTGCTGGGGCTGATCCAAACCTTGGAGATGATTTCAGCAGTGTTTACAAGACTGCCAAGGAACAGGGAATCCATTCTTTGGAAG___ATGGGGGACAGGACGGTGCAAGCCGGCACATCACAAACCAGTGGACAAGTGCCCTGGAGTTCAGGAGATGGCTAGGACTCCCCGCTGGCG___TCCTGATCACCCGAGAGGATGACTTCAACAACAG)GCTGAACAACCGCGCCAGTTTCAAGGGCTGCACGGCCTTGCACTATGCTGTTCTTGCTGATGACTACCGCACTGTCAAGGAGCTGCTTGATGGAG___GAGCCAACCCCCTGCAGAGGAATGAAATGGGACACACACCCTTGGATTATGCCCGAGAAGGGGAAGTGATGAAGCTTCTGAGGACTTCTGAAGCCAAG|CCTTCAGTGTCCTTCAGTCCCACCTCTGCACATGGAGAGCAGGAGCGGCCTGGTTTCCCAGGCGGTAACGTCTtTGAAAACATTCATCGGAGACAGAAATTCTCCTCTGCAAGACCACAGAAAGGGCCGGCAGGCCTAGGTTCCCCCATGCACACACCGTGTCACCCTGGGAAAGaTA MLGSLVLRRKALAPRLLLRLLRSPTLRGHGGASGRNVTTGSLGEPQWLRVATGGRPGTSPALFSGRGAATGGRQGGRFDTKCLAAATWGRLPGPEETLPGQDSWNGVPSRAGLGMCALAAALVVHCYSKSPSNKDAALLEAARANNMQEVSRLLSEGADVNAKHRLGWTALMVAAINRNNSVVQVLLAAGADPNLGDDFSSVYKTAKEQGIHSLEDGGQDGASRHITNQWTSALEFRRWLGLPAGVLITREDDFNNRLNNRASFKGCTALHYAVLADDYRTVKELLDGGANPLQRNEMGHTPLDYAREGEVMKLLRTSEAK|psvsfsptsahgeqerpgfpggnvfenihrrqkfssarpqkgpaglgspmhtpchpgkd 09BR001 ENSG00000118369.13 ENSG00000197124.12(5509),ENSG00000274033.1(11452) +/+ ./- chr11:78207623 chr19:20045014 CDS/splice-site intergenic translocation 2 1 0 79 2 high out-of-frame . Ubiquitin_carboxyl-terminal_hydrolase(100%)| . . ENSG00000118369.13 . ENST00000529308.6 . downstream downstream duplicates(1) ^(AGCCCCGGGGCCGCGCCGCAGAGTCGGGCTTCCTGGATACATAGAGGCTTGTGCCAGGCGGGGTGGGAAGACTGGATTTTGCAGTGGAAGCAGCATCTCTTCCGTCTGGGACCTGGCTGAGGGCGTCCCCACCCTGGGGGGAGCAGAGGACCAGCCCTGACCTAGCCGGGCCCAGCCTCGTCCTGCCCGGCCTGAGCGCCCCGCCCAGCAGCCGGCTCTGGCCCACCGGGGTCCGGGAG___CGCGGGCGCCATGGACAAGATCTTGGAGGCGGTGGTGACGTCGTCATACCCGGTCAGCGTGAAGCAGGGGCTGGTTCGGCGCGTGCTGGAGGCGGCGCGGCAGCCGCTGGAGCGTGAGCAGTGCCTGGCGCTGCTGGCGCTGGGCGCGCGCCTCTACGTGGGCGGCGCGGAGGAGCTGCCGCGCCGCGTGGGCTGCCAGCTGCTGCACGTGGCCGGCCGCCACCACCCCGACGTCTTCGCCGAGTTCTTCAGCGCGCGTCGCGTGCTGCGCCTGCTGCAGGGTGGCGCCGGCCCCCCGGGCCCCCGCGCGCTCGCCTGCGTGCAGCTGGGTCTGCAGCTGCTGCCCGAGGGGCCTGCGGCCGACGAGGTGTTCGCGCTGCTGCGGCGCGAGGTGCTGCGCACCGTGTGCGAGCGCCCGGGCCCCGCGGCCTGCGCGCAGGTGGCACGGCTGCTGGCTCGCCACCCGCGCTGTGTGCCCGACGGACCCCACCGCCTGCTCTTCTGCCAGCAGCTGGTGCGTTGCCTCGGCCGCTTCCGCTGCCCAGCCGAAGGCGAGGAGGGCGCCGTGGAGTTCCTAGAGCAGGCCCAGCAGGTGAGCGGGCTCCTGGCGCAGCTGTGGCGCGCACAGCCCGCCGCCATCCTGCCCTGCCTCAAAGAGCTGTTCGCAGTCATCTCCTGCGCAG___AGGAGGAGCCACCATCTAGCGCCCTGGCCAGCGTGGTCCAGCACCTCCCATTGGAGCTCATGGATGGTGTTGTCCGGAACCTCAGCAATGATGACAGTGTGACAGACTCGCAGATGCTGACTGCCATTAGCAG___GATGATTGACTGGGTGTCCTGGCCCCTGGGGAAGAATATTGACAAGTGGATCATTGCACTGCTGAAGGGCCTGGCTGCTGTTAAGAAGTTCAGCATCTTGATCGAGGTTTCGCTCACCAAAATTGAGAAG___GTTTTCTCTAAGCTGCTGTACCCCATCGTCCGGGGAGCTGCCTTGTCTGTGCTCAAGTACATGCTCCTGACCTTCCAGCACTCCCACGAAGCCTTCCACCTG___CTCCTCCCTCACATCCCCCCCATGGTGGCCTCTCTGGTCAAGGAGGACTCGAACTCGGGGACCAGCTGCCTGGAGCAGCTGGCGGAGCTGGTCCACTGCATGGTGTTCCGGTTCCCGGGCTTCCCGGATCTGTATGAGCCTGTCATGGAGGCCATCAAG___GACCTCCATGTTCCCAATGAGGACCGCATCAAGCAGCTGCTGGGGCAGGATGCCTGGACTTCGCAGAAGAGCGAGCTGGCGGGTTTCTATCCCCGGCTCATGGCCAAGTCAGACACGGGCAAGATTGGTCTCATCAACCTGGGCAACAC)ATGCTATGTCAACAGCATCCTTCAGGCCTTATTCATGGCGTCTGA___CTTCAGACATTGTGTGCTCCGCTTGACTGAGAACAACTCACAGCCCCTGATGACCAAGCTGCAGTGGCTCTTTGGCTTCCTAGAACACAGCCAG|GAGTTCCTACCATATTTTATTTGCAAGCCATTTCTCCCACATTATTCTGGAAGGCTGAAGCCTGTCGATGCATCCAAAAATAGATCTGTCCTGGATCTTTTCTCACAAGTCAGCCAGCTGTCAAGACACCTGAGATGTGATTCTTTCACATGGC MDKILEAVVTSSYPVSVKQGLVRRVLEAARQPLEREQCLALLALGARLYVGGAEELPRRVGCQLLHVAGRHHPDVFAEFFSARRVLRLLQGGAGPPGPRALACVQLGLQLLPEGPAADEVFALLRREVLRTVCERPGPAACAQVARLLARHPRCVPDGPHRLLFCQQLVRCLGRFRCPAEGEEGAVEFLEQAQQVSGLLAQLWRAQPAAILPCLKELFAVISCAEEEPPSSALASVVQHLPLELMDGVVRNLSNDDSVTDSQMLTAISRMIDWVSWPLGKNIDKWIIALLKGLAAVKKFSILIEVSLTKIEKVFSKLLYPIVRGAALSVLKYMLLTFQHSHEAFHLLLPHIPPMVASLVKEDSNSGTSCLEQLAELVHCMVFRFPGFPDLYEPVMEAIKDLHVPNEDRIKQLLGQDAWTSQKSELAGFYPRLMAKSDTGKIGLINLGNTCYVNSILQALFMASDFRHCVLRLTENNSQPLMTKLQWLFGFLEHSQ|eflpyfickpflphysgrlkpvdasknrsvldlfsqvsqlsrhlrcdsftw 09BR001 ENSG00000167785.9 ENSG00000087884.14 -/- +/+ chr19:8821180 chr11:77869722 CDS/splice-site CDS/splice-site translocation 7 4 0 28 3795 medium out-of-frame . KRAB_box(100%)|Protein_of_unknown_function_(DUF498/DUF598)(100%) . . ENSG00000167785.9 ENSG00000087884.14 ENST00000601372.6 ENST00000526415.5 upstream upstream . ^(GGTACCGTGGGAGGGGCCGCGCGTGGGGCAGCGGGGAGCGAGTCCCTCCGTCCCCGCGAGTCGGCGCTTTTGGCCCCGCGGGAGGGGCCGGGCTCG___ATGAGAAAAGCATCATTCAAGCTCAGATTCGTGTTGAAGCCTGCCACAAGGTCCACCTGTTGTTGTGGGTTTTTGGGTGACCAG___GGGTTACCCCCAGCAGTGTGTGAGAATGAAGAGTGTGGGCCACTGTGTCTCTGTTGACCTGCCAGATAGGAAATAGCGCCAGAGTTGCTGCAATCCACGTCTCCCTG___GAATTCAGGAGCAGCTTGGCTGGAAGGCTCTGGCTGGAAACTTGCAGAAGGCTGTCAGCTGGGTCTGCATCATCTGAAGGCTCAACGGGTACCGGGGGCCACTCCATGGCCTGCGAGTCAGAGCTGGCCGTCGGTGGGAGGCCTCAGTTCCTCTCCACATAGGCCTCTCCACAGGGCCACTTGAGCGTCTTCCCACCATGGCAACTGGTGTCCTCTAGAGCAACATCCAGGAGACCAAGGCGGAAGCAGCTGTAGTGCCTTCCAAGACCTGGTCCTGAAAGTCACCCCTGCACCCACCCCCGCTGTCTCCTCAGCCATATTCTGCTGGTCACACAG___AGCGCTGCGGGATAAAGGAGGAGCGTCCTGCTTCCCGGCTGCCCTGTTGCTGTCGGAGTCACAGGATGGCGGCTGTCATCCTGCCCTCGACTGCTG___CTCCGTCTTCCCTGTTCCCAGCCTCTCAGCAAAAAGGACACACACAGGGCGGAGAGCTGGTTAATGAGCTCCTGACAAGCTGGCTACGG___)GGCTTGGTAACCTTCGAGGATGTGGCCGTGGAGTTCACCCAGGAGGAGTGGGCGTTGCTGGACCCTGCCCAAAGGACACTGTACAGGGATGTGATGCTGGAGAACTGCAGGAACCTGGCCTCACTAG|CATTCTCCTGGTGTGCAGCCTGCAGATGTGAAGGAAGTTGTTGAGAAGGGTGTACAGACTCTTGTGATTGGCCGAGGGATGAGTGAGGCCTTGAAG___GTGCCTTCATCAACTGTGGAGTACCTCAAGAAACATGGCATTGATGTGCGGGTCCTCCAGACAGAGCAGGCAGTGAAGGAGTATAATGCCTTGGTTGCCCAAGGGGTCAGGG(TGGGAGGTGTCTTCCATTCCACCTGCTGATGGAGCCTTAAGAGGAGAATAAATCACTAAGTGCCTA)$ MAAVILPSTAAPSSLFPASQQKGHTQGGELVNELLTSWLRGLVTFEDVAVEFTQEEWALLDPAQRTLYRDVMLENCRNLASL|afswcaacrcegsc* 09BR001 ENSG00000172893.16 ENSG00000105371.10 -/- +/+ chr11:71442864 chr19:10287650 intron CDS translocation 3 6 0 14 22 medium . . Ergosterol_biosynthesis_ERG4/ERG24_family(100%)| . . ENSG00000172893.16 ENSG00000105371.10 . ENST00000380770.5 upstream upstream duplicates(5) GAAGCCAGTCACAGAGGCTGCATACTGTGTGGTTCCCTTTATATGCAATACCCAGTACAGGCAAATCCACAGAGGCAGAAAGCTCAGTGGCAGCCAGGGGCGGCAGGGACAGGGAATTCAGAGTGACCGGAGATTGGAACAACATTTTCTTCTGTGGTGATGAAAAGTTCTGGAATTAGCAGTGATAGGTGTACAACCAACCATGTAAATGC|ATGGAAGCCGGGTCATCTATTCCGAAAGCCTGGAGCGCTTCACCGGCCTGGATCTGGCCAACGTGACCTTGACCTACGAGTTTGCTGCTGGACCCCGCGACTTCTGGCAGCCCGTGATCTGCCACGCGCGCCTCAATCTCGACGGCCTGGTGGTCCGCAACAGCTCGGCACCCATTACACTGATGCTCG___CTTGGAGCCCCGCGCCCACAGCTTTGGCCTCCGGTTCCATCGCTGCCCTTGTAGG(GATCCTCCTCACTGTGGGCGCTGCGTACCTATGCAAGTGCCTAGCTATGAAGTCCCAGGCGTAAAGGGGGATGTTCTATGCCGGCTGAGCGAGAAAAAGAGGAATATGAAACAATCTGGGGAAATGGCCATACATGGTGGCTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGAATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAACATAGTGAGACCCCGTCTATGCAAAAAATACACAAATTAGCCTGGTGTGGTGGCCCGCACCTGTGGTCCCAGCTACCCGGGAGGCTGAGTTGGGAGGATCCTTTGAGCCCTGAAAGTCGAGGTTGCAGTGAGCCTTGATCGTGCCACTGCACTCCAGCCTGGGGGACAGAGCACGACCCTGTCTCCAAAAATAAAATAAAAATAAAAATAAATATTGGCGGGGGAACCCTCTGGAATCAATAAAGGCTTCCTTAACCA)$ . 09BR001 ENSG00000172893.16 ENSG00000267607.1 -/- -/+ chr11:71442864 chr19:10287650 intron exon translocation/5'-5' 3 5 0 14 22 medium . . Ergosterol_biosynthesis_ERG4/ERG24_family(100%)| . . ENSG00000172893.16 ENSG00000267607.1 . . upstream upstream duplicates(5) GAAGCCAGTCACAGAGGCTGCATACTGTGTGGTTCCCTTTATATGCAATACCCAGTACAGGCAAATCCACAGAGGCAGAAAGCTCAGTGGCAGCCAGGGGCGGCAGGGACAGGGAATTCAGAGTGACCGGAGATTGGAACAACATTTTCTTCTGTGGTGATGAAAAGTTCTGGAATTAGCAGTGATAGGTGTACAACCAACCATGTAAATGC|ATGGAAGCCGGGTCATCTATTCCGAAAGCCTGGAGCGCTTCACCGGCCTGGATCTGGCCAACGTGACCTTGACCTACGAGTTTGCTGCTGGACCCCGCGACTTCTGGCAGCCCGTGATCTGCCACGCGCGCCTCAATCTCGACGGCCTGGTGGTCCGCAACAGCTCGGCACCCATTACACTGATGCTCGGTGAGGCACCCCTGTAACCCTGGGGACTAGGAGGAAGGGGGCAGAGAGAGTTATGACCCCGAGAGGGC . 09BR001 ENSG00000102172.16 ENSG00000237019.1 +/+ +/+ chrX:21940873 chrX:22652691 CDS/splice-site exon deletion 0 3 0 12 11 medium out-of-frame . . . . ENSG00000102172.16 ENSG00000237019.1 ENST00000404933.7 ENST00000442155.1 downstream upstream . ^(AGTCCTGGCCTCCCCGGGCGCAGCACACTCCCAGCCGGCCGCAGCCTGACACGCCGCGCGGCCCCCCAGTCTCCCGCGGCTGCTCCCCCAGGCATGG)CACAGGGCCTCGCCTCACTATGGCAGCAGCACGGCACAGCACGCTCGACTTCATGCTCGGCGCCAAAG|ACCTGCAAGGCCGGGAATGCTGAAACAGAGTGACAGCCAATCAAGTGCTTCTGCCTGTGGACTTCAGCATCT___ATTAAGTAACTCCTCCATGAGCACTCAGCTAGTACAACTTCTCCAGAACACTGAGCTATCGCTAAAGAGGAGCTGTGGACATCTAATCTACCAACtTCAAGCAATAGCCACCACCAGGgGAAACACACCTGACCCTGTAAGAgTCTTTTACATAGGAGTCACGGGTGCGGGGAATTGAAGAAGGG(GGAAATTGGGGAATGGGAAGTAGTATCATTTTGTGTTGTCCATCATGCTCAAGTGCCTATTAAAAAGCCTGCTTATTTATTGGTAATGA)$ MAAARHSTLDFMLGAK|dlqgrec* 09BR001 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 0 2 0 272 12 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream duplicates(1) ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAG)CAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAAC(ATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 09BR001 ENSG00000127452.9 ENSG00000167785.9 -/- -/- chr19:9827791 chr19:8822724 5'UTR/splice-site 5'UTR/splice-site deletion 0 2 0 0 23 medium . . |C2H2-type_zinc_finger(100%),KRAB_box(100%),Zinc_finger__C2H2_type(100%) . . ENSG00000127452.9 ENSG00000167785.9 ENST00000585379.5 ENST00000601372.6 upstream downstream . ^GTCTGTGGTGTGTTTGCTGTTCCCAG|AGCGCTGCGGGATAAAGGAGGAGCGTCCTGCTTCCCGGCTGCCCTGTTGCTGTCGGAGTCACAGGATGGCGGCTGTCATCCTGCCCTCGACTGCTG___CTCCGTCTTCCCTGTTCCCAGCCTCTCAGCAAAAAGGACACACACAGGGCGGAGAGCTGGTTAATGAGCTCCTGACAAGCTGGCTACGG___GGCTTGGTAACCTTCGAGGATGTGGCCGTGGAGTTCACCCAGGAGGAG(TGGGCGTTGCTGGACCCTGCCCAAAGGACACTGTACAGGGATGTGATGCTGGAGAACTGCAGGAACCTGGCCTCACTAG___GGTGTCGTGTTAATAAACCCAGTCTGATATCCCAGTTGGAACAAGACAAGAAGGTGGTGACAGAGGAAAGAGGAATTCTACCAAGCACCTGTCCAG___ATTTGGAGACTCTACTTAAAGCCAAATGGTTAACTCCTAAGAAGAATGTTTTCAGAAAAGAACAGTCTAAAGGTGTAAAAACG___GAAAGAAGTCATCGTGGAGTGAAACTCAATGAATGTAATCAGTGTTTTAAAGTCTTCAGCACGAAATCTAACCTAACTCAGCACAAGAGAATTCATACTGGAGAAAAACCCTATGACTGTAGTCAATGTGGGAAGTCCTTCAGTAGCAGATCTTACCTTACTATTCATAAGAGAATCCATAATGGGGAGAAACCCTATGAATGCAATCACTGTGGGAAAGCATTTAGTGATCCCTCATCCCTTAGACTGCATTTGAGAATTCACACTGGAGAAAAACCCTATGAATGTAACCAGTGTTTTCACGTTTTCCGCACCAGTTGTAACCTCAAAAGCCACAAGAGGATTCACACGGGGGAGAATCACCATGAATGTAATCAGTGTGGAAAAGCTTTCAGCACAAGGTCCTCTCTCACTGGGCACAATAGCATTCATACAGGGGAGAAACCTTATGAATGTCACGATTGTGGGAAAACCTTCAGGAAGAGCTCCTATCTGACACAGCACGTAAGAACTCATACTGGAGAAAAACCCTATGAATGTAACGAGTGTGGGAAATCCTTCAGCAGTAGCTTTTCTCTTACTGTGCACAAGAGAATACATACCGGAGAGAAACCCTACGAGTGCAGTGACTGTGGAAAAGCCTTTAATAATCTCTCAGCTGTGAAGAAACACTTAAGAACTCACACTGGAGAAAAACCCTATGAATGTAATCATTGTGGGAAATCCTTCACAAGTAACTCCTATCTTTCTGTGCACAAGAGAATACATAATAGATGGATATGAATTACTGCAGGAACTTCTGGAGGAAAGCACTCATTGATCTTTCATCCCTAAGATAGTTTGAGAGAGCTCACACTGGATATATAAGTTATTTGTTGCAGCATAACAAATGATCCCCGCAAATTTTGTGGCTTCAAACACGAAATGTTTATTCTCTAACAATTTCTACAGATCAGGAATTCAAGAACAGCTTATCTCTGTAGTTACACTGCAGGATCTCTCATGCCTTTACTTACAATCAAGATGTCAGCCAAAGCTATAGTCATCTAACATCTTTACTGATGAACAGTCCACTTCCAAGATGACTTATTCACATGCCTGGAAAGTTGATGTTGGTTGTTGTCAGGGGACCTTCAGTCATTACCATGTAGGCCTCTTTACAAGGCCCAGCTCCTTGACAATTTGGCAATAAGTTCTCGCCAAGGTTAGTGATCCAAGAGAGGACCAATACAGAGGCCAAAATGGCTTTTATGACCTATCCTCAGGAGGACTGCTAAGCTTTCACTTATTTCCTATTGTGTTGGTCTCACAACACACCAATCCTGATACAATGTGAGAGACTGCAGAAGGTATGAATACCAGGAAACAGATAACTCAGAAGCATCTGGGAAATTTGCCATGGAATTAATGAAGAAAAGCCCTCAGCACATCATCCTTCTACTCTAATCAATATGAAATAGCATTCAGTAACTCCTATTAATTCACTCTGAAGAGAAACCTTTTGAGGACAATCTGTATGGTAAAGCTCTCAGCTCGAATTCTCACCTTCATGGGCCCAGAAGATTATGTACTGAGAGAATCCTGAAGAATGGAACAGCTGTAGAAAGCCTTCAGTGCTATCAGCAGGGATTCATGTGACAGCTCACACTAAGGGAGAAAACCTGTGAAGGTCTCAGAAGGCTTCAGTGACAGTCATCCCTTAAGACGCACTGGAAATCACACAATGGAACAACACTCAGAAATGCGGAATACCCTACAGCAAAAGTGTTCACATTACTGAGCAAACTATAGTGTGGTATTCTGCAGTGACTATGGGAAAGCCTTGAATGTTCTATCGGTTTTTAAGGGACTTGAGAATTAATTCTGGAGAGAATGCCCCATTGAACATCATCAATATTGGAGAGCTTTCTGTTTTTCTACATTTGTTAGGAAACTTGTGAGCATTCACACTACAGAGAAACTTGAAATATAAAGAAGAAGAGAAAGCCTTCAGTGATGCCTCTGTGTTAGGGAAAATATGGAACTTCTCCCTGGATGCAAAACCTATGAGTATATTAATATTGGAAAATTTTTCAGTGATTCTTCTCTTTCTTGTATATGAGAGAACTTATATGGAGAAACCCCTAGGAATGTAATCAGTGTTAGGATGCCTCAGCCTGAACTCTTCACTGAGTGGCCACAATTTTCACTGGGAACAAAAAGTATAATCACTGTTTTGAGTGTGGGATATCCTTTATCAGTGTCTCATCTGTAGATTGGACTGCTGGCTCATTAATTTTTTTAGTCTTTTTTTCTTTTAATATAAACATTTGTGTATAGCTGTTCCCTAAAATAAACATTAACATATTTCATAATTTTAATGCAATGTATTTATTATAATTAATTTGCTTGTTAAAGACATCCACACATTGCATATTCAAAAAGTTATTTCCAAATACCTTCTGAGTGATTCAGTTTATCATAATGGAAATTAGTATTTATAAACACATTTTTCTAATGTAGTGGTATTTTTGGCAGAGTACATGAGCTTTATGATACTGATTATTTTCTCTCTATCTTGGTATGCCAAATACTGTTGGTTTCTTTCCCAGTGTCCGTTCTCTTCAGTTTATTCGTTTAAAGAAACAAACATGTTGTTCAAGTTGTCTGTGAACAATATCGAAAGTTCTCAATCTTATAGTTTTTCCTGAAGCCCAGGCGGGTTTTTTCGCACTCCCCTGGCAATGAGAAGTAAGTCGAAGTCACTGTGTGGAACATCTCCTGGCTTGTTCTCCTCACATATTTTCCATTCACCTCACCCATTCTGTCTCTTGGAAAGTGGCCTCAAGGTCTAGAGTTTGAAGAGCTTCTTTTTGACCACAATGACAGAAACCAAAGTGCAGCCAAAAATCACAATGCTTTGGGCTCTCCAGGAGCCTCCGATTGGCTGCATCTGCTCTGGACTCCTTATTCTTATACTTCTTATGTGACTAAAAGAAACCCCTAGGCTGGGTGTGGTGGCTCACGCCTTTAATCCCAGCACTTTTGAGAGGCTGAGGTGGGTGGATCATGAGGTCAACAGATTGAGACCATCCTGGCCAACGTGGTGAAACCCTATCTCTACTAAAAGTATAAAGATTAGCTGGGTGTGGTGGTGCACACCTGTATTCCCAGCTACTCGGGAAACTGAGACAGGAGAATTGCCTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATGGCGCCAGTGCACTCCAGCCTGGCAACAGAGCGAGACTCCATCTCAAAATAAACAAATAAATATTTTTAAAAAAAGAAACCCCTAACTGATTGAAGCCAACATGATCTGTTGTTTGTTTTTGAGGTGGTGTTCTGTTAACTTCCAGCAGGATGCAGAATCTAACTGGTAAACCTATAAATTGGTCAAGTTTTACCCATGTTGTTTCTTTGAAAACAATGTATATTCTCTAATATTTGGATATAGGGTATATGAACATTAATGCAACTTAATTGTATTTCCAAGTACAGTACGTATGTTCAGATTTCTTTTTCTAACCTTATTTAGTGATAGAGGTGTGGTAAACTCTTCCATTATGTTTATGTATTAACACTGTAATTTTGTCATTTTTATATATTTTGACATTATGTAACTAGATGCATACAGGATTAGGTATTCTGTATTCCTTTTTATGTGGAGATGATATTTTTACATAGCAAAGTATTGTAATGCATTAATAATAAATGGTCAAACATTTATTTATTTATTTATTTATTTTAGATGGAGTTTCACTCTTGTCATCAAGGGTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCTTGGCCTCCCAGGTTCCAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCAGGTAATTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGATGGTCAGACATTTATATTGCACTTCCCATAGATCAGGCCCCCTTCTAAATGACATATAAGTATTAACTCAGTATGCATTATAAACTTAAGTATGTAATGTTATTATCCCCAGTTTACAGATGAGAAAACTGGTATGATACACTTAAGTTACTTGCCTGCATTCACTGACTGGTAAATGGTAGAGCCAAGATCTGAACCCAGACAGTCCATGCACTTAACCACTACCCTATTAACGGAGTATGTTCTGTGTGCCAGGCAAAGTTTTGCCATTGAAATACTTCACCTAATGGAGGAGGAACAGATTATAGAAAAATCAAGAAAATATGGTATTATAGAGTTATAGGAAAAAAAAGCATTTTAGGAGAGTTAAGGGGGGTTGGGAATAATAATTTTATATAACTAGGAAAAGAAAGCCTCTTGGTAAGGAGCATTTGAGCGGAGATCTCAACAAGTTGGGACAGTGAGTCATATGAATTTGTCTTGCAAGAGTAGTGTTGGCATGCAAAGGCCCACAACAAGGAGGCCAATACAGCTGGAGTGGAACAAAGGGGTGATGAGGGAGCAGTAAAAGATGATGTGGTCAGAGACATGGTAGATCCTGATCTTGTTGGGTTTTCTGAGACATTGTTAGGACTTTTCCTTATTTCAGTGAGTTGGCACATCAGTCAGGGTCCCAGCAGGAACTCAGGTTGACACCCACAGACTAGGACAATTCAAGTAGAGTTTTCATAAAGGGTCTACTCAGTCCTGTGGACAGGATCCAGGGAAACCACAAAAAGTTGTAAAGCACCCAGCAGCTTAGCAGGGCAGAGCTCTAACACCTCACAGCCTGAAGGGACGAAGGGAGGGAGCAACTGAATCTGGAGACGAGAGGAGAGGGCTGCATTCCAGGAGCTGAGAGAGGTCAGTCAGCGATAGCATCCAGCCCCAGGTCCTCCTGCAGGAAATAGCCAGGGTCAGACCTCACTCTCCTTCATCCATTGAGACAGGAAAATATCCCCATTTATGAATATATAAATCAATAGCAGATCCAGAGACAATTTGGGTATTGGAGTTAGCAGACAAAGACTTTAAAATAACCAAGAATAATATGTTAAGGGAAATGGAGGAAACATGGACAAACCATAGAAAATGAGAGACAAACTGCAAATCTACCAAACAACCAAAGAAGAAGGACACATTGCTTTCAAAGCAGCATCAGTAAGACTAATGATGACTTTTCAAAAGAAACTATGGAAGCAAGAAGACAATGAATGACATCTGACATATAAAGGGTTAAATGGGTTGGAGGAGGGGGAAATTGTCAATCAAAAGTTCTGTAACCTAAGAAAATATTCTTCAAAACTGAAGGCAACAATGTTTTCCAATGGGAGGGAATATTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCATGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCCTTTGACCTCACATGATTTGCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTGGGAGGGATTTTTTTAAGCTGAGAGAATTAACAGCATAACCGTATTTTCAGAAACACTGAAGAGATTTCTTCAGGCTTCAGGAAAATGATTCCATAGAGACATACATAATTCCAGGAATTAAGATCAACAGGAAACATAAGATGCAAGTAAATATAAATCAGTACTGACTGTATAAAACAACCCTGTATAGTTTTACAACTTTTATGTATATCTAAACTTTCCAAAATAAAATGCTTTTAAAAACA)$ . 09BR001 ENSG00000226965.2 ENSG00000271368.1(77213),ENSG00000237064.1(117648) -/- ./- chr7:110511060 chr7:109841570 exon/splice-site intergenic deletion 0 2 0 19 6 medium . . . . . ENSG00000226965.2 . ENST00000667232.1 . upstream downstream duplicates(2) ^(GTTCCAGGCTGACAAGCCCGGGCTTGTGCTTATTTCACTGTCTAACCCTGCCCAGGCCCCGGGGAGAAGCCTGGTATTCTTCGTGTTTATTTAATTGTCAACTCTCTGTGTTCTAAGACGATACCCTGGCCTTGACTCAGTACAACCTAGGACT___GTAAGTCCCATCATGTCTATGGACTTCAGTTTCCAGACATGAAACACAAGAGGCTTGGACGAGATTAGAAATCAAGAACTCGAATGCGTAT)GGTCAGcGCCACGAG___AGTTTCCATAAAGGAACACAACCATGTGGACAACTTGATTATGCCCTACAAAACT|CTGCTTTTAATTGGTAGACTTTGTTGAGTGTGTCACCATCAACCACACACAAAAAATGGAAACATGTATGAATGACTCTTAAAGAATTAATAGATTCAAGCCTGCTGATTCCTTGTCAACAG___GTCTACATGAAGAAGAAATGATGGGACCAAACAATCAGGAAtCAGGGAAGCACTGCACCAGCTCCTAACACAAGAG . 09BR001 ENSG00000135373.12 ENSG00000137478.15 +/+ -/- chr11:34621228 chr11:72902638 5'UTR/splice-site CDS/splice-site inversion 0 2 0 7 30 medium . . |SH3_domain(100%),Variant_SH3_domain(100%) . . ENSG00000135373.12 ENSG00000137478.15 ENST00000257831.7 ENST00000409418.9 downstream downstream . ^(ACTTGATAACACCCGTGGTGCCCCATCCCTATAGGAGCTGGTGAGATTGCAGCCTGCTGCCTCCCCTCCAACA)GCCACAGCTATTGGATTTCCCACCCAGAATCTTTAGGTAAATGAG|GTGGTCCGGGACTACAATCTTCAGCTGTTTTTGCAAGAAAACGCTGTATTTCACAAACCCCAGCCCTTCCAGTTCCAGCCTTGTGACAGTGATACT___AGCCGACAGTTAGAATCAGAAACTGGGACCACAGAGGAGCACAGTCTAAATAAGGAAGCTCGAAAATGGGCCACACGTGTGGCACGTGAGCATAAAAACATTGTTCACCAACAACGG(___GTTCTAAATGATCTGGAGTGTCATGGAGCTGCTGTATCAGAACAAAGCCGAGCAGAGCTAGAACAGAAAATAGATGAAGCTAGAGAAAATATTCGTAAAGCAGAG___ATAATTAAATTGAAAGCTGAAGCCCGGTTGGACCTGCTAAAGCAGATTGGTGTTTCTGTGGACACATGGCTAAAGAGTGCCATGAACCAAGTAATGGAAGAACTGGAAAATGAGCGATGGGCCCGCCCTCCTGCAGTGACCAGTAATGGCACTTTACACTCG___CTTAATGCAGATACCGAAAGAGAAGAAGGCGAAGAGTTTGAAGATAACATGGATGTTTTCGATGACAGCAGTTCCAGCCCTTCTGGCACCTTAAGAAATTATCCACTCACCTGCAAAGTTGTTTATTCCTACAAG___GCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAG___GCTCGAAATAAAGTTGGCCAAGTGGGTTATGTGCCAGAAAAGTACCTACAGTTTCCCACCTCGAACAGCCTCCTGAGCATGCTGCAGTCCCTGGCCGCTTTGGACAGTCGGTCACACACGTCCAGCAATTCCACGGAAGCAGAACTCGTTTCAGGCAGCCTCAACGGAGATGCCAGTG___TATGTTTTGTGAAAGCACTTTATGATTATGAGGGCCAGACAGATGATGAGTTATCTTTTCCTGAGGGAGCAATAATCCGTATCTTGAACAAAGAAAACCAAGATGATGATGGCTTCTGGGAAGGGGAATTCAATGGGCGTATTGGAGTTTTCCCATCGGTGCTAGTGGAAGAACTTTCAGCCTCAGAAAATGGTGACACTCCATGGATGAGAGAGATTCAG___ATCTCTCCTTCCCCCAAGCCACACGCCTCCCTGCCTCCACTGCCGTTGTACGACCAGCCTCCCAGCAGCCCCTACCCCAGCCCAGATAAGAGGAGCTCCCTGTACTTTCCCCGGTCTCCTTCAGCAAACG___AAAAAAGCCTTCATGCTGAGTCACCAGGATTCTCACAGGCATCAAGGCATACTCCTGAGACCTCATATGGCAAACTGCGACCT___GTCCGGGCAGCTCCCCCTCCACCTACACAGAATCACCGAAGGCCAGCAGAGAAGATTGAAGATGTGGAAATCACACTGGTGTGATGATGGGCTTGCCCATCCATTACTGCTACAATCAAGGCCAGGCTTGGAGTTTGGCCAGTCTTGTTTTTTAGGCACCTTTGCATGATGATGACTCTTGAACAGAGCAAAAAACAAGGAGGATTATGTGTGACTGGGTGGCCTGGTAGACTCCTCCCACGTTTTGAATATTTCGTGCCTTTTTTTTTTGTTGTCATTTTCTATGTCATTTCTCCTACCATAGCACAAATCCTAGCGGACCCTAGGAGCAAAGAGGGGGGCAGCCCTCATGCCTAACAGTGGTCTGTTTTTATATGAGACTCAAGAACAGGCCTCATTCCAGGGCACAGTCCCTAAATTACTGATCATGTGCACTCGTACAGTATATTACTGTGACCACAAGGATGTGGCAAAGATTCTCATCTTTCTTCAAGTGGCTTTTGCTCATCTGATTGAGAATTAATCAGATCATGTTGGCTACATAAGGAAACAGAAGGAGGGATTTCAGGAGAGGCTGGCTCCTCCCCAAGGTTAGTCCCCAGACTGAGAAAGTGAAACCTTATTGGGAAAAATTGGACTGCCCTGAATTTAGCACCAATTGCATTAACGCACATCTCTTCCACAACTAACAGACTTAAAATAACAGTGTCCTTCGTATTAATATCTGTGCCATTCATTTAGAATTAGCAGAGCTAATATGGAGGGGCTGAACTAGTAGCCACATCTTGTTCATCACATAGACTAATAGAAAGGAGGCTGTGGCTAAAGCAGAAATGGAACTTCCGGATCTGAAATTAGCCAATATAATGTTCTTTTGTATTTGGGTATTTTTCATCTTAATTTTTACAGCATATACTCTTCTTACCAGTATCCTTAGAATCCAAATGTCTAGATAAGTTGAGGACACATACCTGCATTGTTGAGCTTCTCTACTGGGGACGCCCCGGCATTATTTTATTCCCAAGCCAGCAGACCGGCCCAGACAGCCAGGCTGTGGCTGGTCCAGACCAACTGCTATGGTGGAAAATGCAGCTTCCAGGTCCCACTACCCTGACATTTCCGTGGAAGGAAGAACCTGGTGGCTCGTGGAGGAAACCAGCTTTCTATGAGAAAGGACTGAAGGATTGCGCACCCTGCACAAGTACAGATTGACCAGGAAAAGACAAGTGTCTTCTGTGTGTCACAGGGAAAGCCAGGAGTGGCCTTCTCTGCAGGCCAGCAAGCCTGCAGCAGCAGGTGCCCCCACGTCAGGTGCTGACTGTCTGCTGTCCGCTCCTGTAGAAGGTAGGGAGCACAATACCTAGGGACTAAGGGATGTTCGCCGGTTGTGGTTTGTTTTTTTTTTTTTTCCTTGGTTAAGAAATCAAATTTGCAGAATTTAATCTACAAGTTGTATTATGCTTTGAAAACTCCATCCCTCCTAAGAATCTTAAAAAACTTGAAATGCTCGCCAAATGTCCCCATGGGATTTTTGACCAAAAGTAAGGTGATAACTGAAGAAATTTTTAGTTCTTTGATCACTTCAGTGACAATACCCATTAATGAATCTTCTCCATGATTTGGGGTTTTTTTTCGTTGTTGTTTTTTACACTTCTTAACCTGTTGATCTATTTGAGGTCTTTTGTGTTTATCAAACTTATTCTTAAGTTTAAAAAAGAAATTAAAAGGGTGGTTTTTTTAAGATTTTAAAGTTTGCTAACATATTAAAAATCTTCAAATGCTTATTAAATAGAGCAGTTCTTGCCACCCAGTCTTGTATTCTGTCTTTAGCTAGCCAAATTGTCCTTGAATTTGGGTTTTCCACAACCTCAAAGGGTTATTTGAAATCTTTTGTTGTATTTTAAAATATTTTTTGGAAGAGCTGCTAATTTTATTTTAAAAAACAAAGTTGTGAAAACATGCCTCCTTTTTAAAAAATAACCCCTCCATCCAGGATATGGAATCCAGCACCACAGTGCACAGGTCAGGGCTCGGAGGGAGCCTCTGTGCAGATGTGCTTTCTTTACAGTGGCTGTAAAAAGTTTGTATTTATTATGTATAAAATGTTGAATAATAAAAAAAATGGAATTA)$ . 09BR004 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 98 155 0 474 467 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(53),inconsistently_clipped(5),mismappers(12),mismatches(4) AAAAGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTAC(CACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 09BR004 ENSG00000073792.16 ENSG00000254404.1 -/- -/- chr3:185696612 chr11:62217812 CDS/splice-site intron translocation 128 4 2 1415 188 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000073792.16 ENSG00000254404.1 ENST00000382199.7 ENST00000529875.1 upstream downstream duplicates(25),mismatches(1) ^(GAGGAGAGACGAGGGCAGCGGAGGAGGCGAGGAGCGCCGGGTACCGGGCCGGGGGAGCCGCGGGCTCTCGGGGAAGAGACGGA)TGATGAACAAGCTTTACATCGGGAACCTGAGCCCCGCCGTCACCGCCGACGACCTCCGGCAGCTCTTTGGGGACAGGAAGCTGCCCCTGGCGGGACAGGTCCTGCTGAAGTCCGGCTACGCCTTCGTGGACTACCCCGACCAGAACTGGGCCATCCGCGCCATCGAGACCCTCTCGG___GTAAAGTGGAATTGCATGGGAAAATCATGGAAGTTGATTACTCAGTCTCTAAAAAGCTAAG___GAGCAGGAAAATTCAGATTCGAAACATCCCTCCTCACCTGCAGTGGGAG___GTGTTGGATGGACTTTTGGCTCAATATGGGACAGTGGAGAATGTGGAACAAG|AGACTAAAAGTTCTTCCGAAGAGCAGGCAATGTTGGATGGAGGGAAACAAACAGAGGAGCGAGTCGTCCCTGAATTGACTGAAAAG___CTCACTGTGGGGCAGGGGAGGATGGACCCACTGGCAGAGACTGGACTGAGAAAAGTTGCACAATTTAAGGTGTCGCTATGCTAGCAAACTCAGTCATCAGG___CTAACTCTCAGGAGGATTTGCAGTGGAAGCAAAGCCAGCATCCCCT(CTCCATTTATTCTGTTATCTAGGAGACACTTCATAATGCCAAACAGGGGCCAGGGTTGTAGGATCTCTTCCCTACCAGTGATCCATGTAATACTTTTTTTCTCCAAAAATTCTATCCTTTGAAATAACTTATCCAATAAATATGCTGCATATAC)$ MMNKLYIGNLSPAVTADDLRQLFGDRKLPLAGQVLLKSGYAFVDYPDQNWAIRAIETLSGKVELHGKIMEVDYSVSKKLRSRKIQIRNIPPHLQWEVLDGLLAQYGTVENVEQ|etkssseeqamldggkqteervvpeltekltvgqgrmdplaetglrkvaqfkvslc* 09BR004 ENSG00000073792.16 ENSG00000254404.1 -/- -/- chr3:185696612 chr11:62214576 CDS/splice-site exon/splice-site translocation 13 2 0 1415 287 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000073792.16 ENSG00000254404.1 ENST00000382199.7 ENST00000529875.1 upstream downstream . ^(GAGGAGAGACGAGGGCAGCGGAGGAGGCGAGGAGCGCCGGGTACCGGGCCGGGGGAGCCGCGGGCTCTCGGGGAAGAGACGGATGATGAACAAGCTTTACATCGGGAACCTGAGCCCCGCCGTCACCGCCGACGACCTCCGGCAGCTCTTTGGGGAC)AGGAAGCTGCCCCTGGCGGGACAGGTCCTGCTGAAGTCCGGCTACGCCTTCGTGGACTACCCCGACCAGAACTGGGCCATCCGCGCCATCGAGACCCTCTCGG___GTAAAGTGGAATTGCATGGGAAAATCATGGAAGTTGATTACTCAGTCTCTAAAAAGCTAAG___GAGCAGGAAAATTCAGATTCGAAACATCCCTCCTCACCTGCAGTGGGAG___GTGTTGGATGGACTTTTGGCTCAATATGGGACAGTGGAGAATGTGGAACAAG|CTCACTGTGGGGCAGGGGAGGATGGACCCACTGGCAGAGACTGGACTGAGAAAAGTTGCACAATTTAAGGTGTCGCTATGCTAGCAAACTCAGTCATCAGG___CTAACTCTCAGGAGGATTTGCAGTGGAAGCAAAGCCAG(CATCCCCTCTCCATTTATTCTGTTATCTAGGAGACACTTCATAATGCCAAACAGGGGCCAGGGTTGTAGGATCTCTTCCCTACCAGTGATCCATGTAATACTTTTTTTCTCCAAAAATTCTATCCTTTGAAATAACTTATCCAATAAATATGCTGCATATAC)$ MMNKLYIGNLSPAVTADDLRQLFGDRKLPLAGQVLLKSGYAFVDYPDQNWAIRAIETLSGKVELHGKIMEVDYSVSKKLRSRKIQIRNIPPHLQWEVLDGLLAQYGTVENVEQ|ahcgagedgptgrdwtekscti* 09BR004 ENSG00000074201.9 ENSG00000254434.1(187927),ENSG00000200146.1(12122) -/- ./- chr11:77637590 chr11:80515838 CDS/splice-site intergenic duplication 42 17 1 677 70 high out-of-frame . Regulator_of_volume_decrease_after_cellular_swelling(100%)| . . ENSG00000074201.9 . ENST00000525428.6 . upstream downstream duplicates(5),mismatches(1) ^CTCTTCCAGGGCGGGCGGTGTGGTGCACGCATTGCTGTGCTCCAACTCCCTCAGGGCCTGTGTTGCCGCACTCTGCTGCTATGAGCTTCCTCAAAAGTTTCCCGCCGCCTGGGCCAGCGGAGGGGCTCCTGCGGCAGCAGCCAGACACTGAGGCTGTGCTGAACGGGAAGGGCCTCGGCACTGGTACCCTTTACATCGCTGAGAG|ATAAGTCGACATTTTCACTGGACCGATTGGACTGAAAAGGCAAGATTGAATGAG___GATAAACAGTATTGCTGCTCTGAAGACAGCTTGAGTAACACTGTTCTTGGACATTGATGGGCTTGTCTAATTAAG___ATCAATGTTCAATGGAGCTTGGATTTGTCATGGGTCTCTGGTGACAAACATTGG MSFLKSFPPPGPAEGLLRQQPDTEAVLNGKGLGTGTLYIAEr|* 09BR004 ENSG00000170965.10(55294),ENSG00000199920.1(46443) ENSG00000170965.10 ./- -/- chrX:134713765 chrX:134602122 intergenic 5'UTR/splice-site deletion/read-through 35 8 0 55 44 high . . . . . . ENSG00000170965.10 . ENST00000359237.9 upstream downstream duplicates(1) ATTTCCCTGGAGAGGAGGTTGTGGAGGTGGGGCTGCCAGTCCCTACATCCCTAGCAGACCCACCTCTTCACGGGACCATCCGGACCCTGTACACGTGGACCCTGGCCGTGTAGACACACCTGAGTCCAGGAACGACACAAGCCGCAGGGATCCCAGCCTAGGCACGGAG|CTGCCTTCACCAGTGAGCACAAAGCCACATTTCAAAGGAAACTGACAAATTATCCCCAGCTGCCAGAAGAAG___AAATCCTCACTGGACGGCTTCCTGTTTCCTGTGGTTCATTATCTGATTGGCTGCAGGGATGAAAGTTTTTAAGTTCATAGGACTGATGATCCTCCTCACCTCTGC(GTTTTCAGCCGGTTCAGGACAAAGTCCAATGACTGTGCTGTGCTCCATAGACTGGTTCATGGTCACAGTGCACCCCTTCATGCTAAACAACGATGTGTGTGTACACTTTCATGAACTACACTTGGGCCTGGGTTGCCCCCCAAACCATGTTCAGCCACACGCCTACCAGTTCACCTACCGTGTTACTGAATGTGGCATCAGGGCCAAAGCTGTCTCTCAGGACATGGTTATCTACAGCACTGAGATACACTACTCTTCTAAGGGCACGCCATCTAAGTTTGTGATCCCAGTGTCATGTGCTGCCCCCCAAAAGTCCCCATGGCTCACCAAGCCCTGCTCCATGAGAGTAGCCAGCAAGAGCAGGGCCACAGCCCAGAAGGATGAGAAATGCTACGAGGTGTTCAGCTTGTCACAGTCCAGTCAAAGGCCCAACTGCGATTGTCCACCTTGTGTCTTCAGTGAAGAAGAGCATACCCAGGTCCCTTGTCACCAAGCAGGGGCTCAGGAGGCTCAACCTCTGCAGCCATCTCACTTTCTTGATATTTCTGAGGATTGGTCTCTTCACACAGATGATATGATTGGGTCCATGTGATCCTCAGGTTTGGGGTCTCCTGAAGATGCTATTTCTAGAATTAGTATATAGTGTACAAATGTCTGACAAATAAGTGCTCTTGTGACCCTCATGTGAGCACTTTTGAGAAAGAGAAACCTATAGCAACTTCATGAATTAAGCCTTTTTCTATATTTTTATATTCATGTGTAAACAAAAAATAAAATAAAATTCTGATCGCATAAAAA)$ . 09BR004 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 7 27 0 87 51 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2),low_entropy(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___)GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 09BR004 ENSG00000198586.14 ENSG00000166268.11 -/- +/+ chr2:171117739 chr12:69903644 CDS/splice-site CDS/splice-site translocation 0 27 1 160 66 high in-frame . |Chaperone_of_endosialidase(100%),Myelin_gene_regulatory_factor_-C-terminal_domain_1(100%),Myelin_gene_regulatory_factor_C-terminal_domain_2(100%),NDT80_/_PhoG_like_DNA-binding__family(100%) . . ENSG00000198586.14 ENSG00000166268.11 ENST00000431350.7 ENST00000552032.7 upstream upstream duplicates(1),mismatches(1) ^(GCAGAGGTTACCCCACCGCCTCAGCCGCCACCCACAGCCCGCCGCCGCCGCCTCCCGGGCGACGCCGGGGGCCGACGCACTGCAGAGGTGCCGGCAGGTTCCGCCCGCGGAAGTGTCCTCGGCCGGCGCAGCCCGCGCTCCGCCCGCGCTCCGACCCCGGCCCGGCTGGCACCCCCTCGACGCCTCCGCCGCCGCGCTCCTTTCCTCCTCCTCTCCTCTGGCGCGCCCGCTCGCTCCCTCGCTTCTCCCCCTTTCCCTCCTCCCTGTCCCCTCTCCTTCCCTCACCTCTTTCCTCCCCACCTCCCCTCTTCTCGGTTTCCTCCCCCATCCCCTTGACTCTCCCCTCCCAGCCCTCGCTCTCTCGCTCGCCCTCAGCGCGGCCCCCGCCATGACGGAGGCGGGTGCCGGTGCCGTTGCCGCCGCTGCCGTCGCAGGGGGGGAGTCGGGTTCCCAGAAAGTAGCTTGATGAGTGTCCAAAGTAGCAGTGGAAGTTTGGAGGGGCCGCCATCTTGGTCCCAGCTCTCCACGTCTCCAACCCCGGGCTCGGCGGCGGCGGCCAGGTCCCTGCTGAATCA)CACGCCGCCATCCGGGAGGCCCAGGGAAG___GTGCAATGGATGAGCTTCATAGTCTGGATCCAAGAAGGCAAGAGTTATTGGAAGCTAGATTTACTGGAGTTGCAAGTGGGAGCACTGGAAGTACGGGCAGTTGCAGTGTTGGAGCTAAA|GCCTCTAACCCTGGGCAGTTTGAAAATGACAGTGATGCATTGTGGCAGCGAGGACAAGTTCCAGAATCTATTGTCTGTCACGGTCGAGTAGGAATCAACACAGATGCGCCGGACGAAGCCCTGGTTGTCTGTGGCAACATGAAAGTGATGGGGACCATCATGCATCCCTCTGACAGCCGGGCAAAGCAGAATATCCAGGAG___GTTGACACGAATGAACAGCTGAAAAGAATAGCCC(AAATGAGAATTGTTGAATATGACTACAAACCTGAATTTGCATCTGCAATGGGAATAAACACTGCCCATCAAACAG___GAATGATTGCCCAGGAGGTGCAAGAAATCCTGCCCAGAGCAGTAAGAGAGGTTGGTGATGTCACCTGCGGAAACGGAGAGACCTTGGAGAACTTCCTCATGGTGGATAAG___GACCAGATCTTTATGGAAAATGTAGGTGCAGTGAAGCAACTGTGCAAACTAACTAACAACCTTGAGGAAAGAATAGAAGAGTTAGAAATATGGAACAGAAAGCTGGCCCGGCTAAAGCGGCTCAGTAGTTGGAAGTCATCAGCCAGTGAAGCAAGCACAATCAG___CAAATCTAGCAGAGCCGTTAGTGCATCTTCTCCAAGAAGGGCCGTTCATAAAAAAAACAACAAG___GTTTATTTTTCAGGAAAAAGACAGGCGTGTCCTAATTGGGTTTTCCAGACCTTGGTTATAACTCTGATTGCTGTGATGGCATTTTG___TGCTTTGACGATAGTTGCCCTCTATATACTTAGCTTAAAAGATCAAGACCGACGTGTCCCAAATCTCCCTCCAAG___CAATATCACAAGCTCACAGGAGCCAGCTCTGCTGCCCACAGCCTCCTCCTCAG___CACCTAATACATCCCTGGTAACCACACCGGCCTCCTTACAAGTACCTGAAATTACTTTCTGTGAAATCCTGCCGTGTCAGGAGACTTATTGCTGCCCCATCCGGGGAATGAAAGAAGTCTCTTCAAGTCCTGTGCAAAGACAATCTGAGGAGAAGGAATTCCATCAGAGGCGATGGTCAG___AAGACAAAAGCAAATCAGTTTTGGCAAGAAATGCACTCAGCGGCCCTGACTGGGAGAGTGACT___GGATTGATACAACCATCAGTTCTATTCAGATTATGGAAATCCAGCAAATAATAGATCATCAGTATTGCATTCAAAGCCTCCAGTGCGG___ATCTGGAAATTATAATTACAATATTCCTGTTAATAAACACACACCCACCAATGTCAAGTTCTCTCTGGAAATAAA___CACAACAGAGCCATTGATAGTCTTCCAGTGCAAATTCACCCTTGGAAATATATGTTTCCATAGTAAAAGGGGAACCAAAGGGCTGGAAAGCCACAGAGAAATCTCCCAGGAGATGACACAG___GGATATCAGCACATTTGGAGCCTCCCTGTAGCCCCATTTTCTGACAGCATGTTCCATTTCCGTGTAGCTGCACCG___GATTTAGCTGACTGTTCAACTGATCCTTATTTTGCTGGGATATTCTTCACCGATTACTTCTTTTACTTCTATCGACGCTGTGCCTAATTTGTTCAAGTTTGGGGACTTTACCAAAGAAAAATACTCAGGAATACATTTAACAGAAACGAACATCCTCTTGCAACTTCTTTTTTCTTCTTTGTAAAACATTTACGTTTATTGCTGAAGGACTTTTTCAGGCTTTAGCTTCCAACAGTTTTGAGACATTAATGAGGAGAATAAAATGTTTGCTGAAACTTGAAATAATGTGATGTTTGATTTTGCCATGACTATGAAGAAAACATTTCCTGGAGCAAACAGTTCTGTTGAATTTAAAAATACTATTATTTCTGGTATTAAGGAAGTTGTGAGCTCAAAATAAGGAGATCTAGCCTCTATTTTGTTTTAATGTATTTTAAAGCTTTTGAAAAAACCAAAAGGGCCATGTCGACTTCGGCCCACTAAACATAGACTCTTGAGAATGTGTGATATGGTATGTGGAGGAGATGTGGGGGGTGGTATCTGATACTGAGCTCACATTTAGGCAAATTGTCCTATGTGTGTGTGTATTGTATAAACACATACACTAGAGTACAGAATGTAGTTTGTTAATCAAATGGATTTAAGAGAAATAA)$ MSVQSSSGSLEGPPSWSQLSTSPTPGSAAAARSLLNHTPPSGRPREGAMDELHSLDPRRQELLEARFTGVASGSTGSTGSCSVGAK|ASNPGQFENDSDALWQRGQVPESIVCHGRVGINTDAPDEALVVCGNMKVMGTIMHPSDSRAKQNIQEVDTNEQLKRIAQMRIVEYDYKPEFASAMGINTAHQTGMIAQEVQEILPRAVREVGDVTCGNGETLENFLMVDKDQIFMENVGAVKQLCKLTNNLEERIEELEIWNRKLARLKRLSSWKSSASEASTISKSSRAVSASSPRRAVHKKNNKVYFSGKRQACPNWVFQTLVITLIAVMAFCALTIVALYILSLKDQDRRVPNLPPSNITSSQEPALLPTASSSAPNTSLVTTPASLQVPEITFCEILPCQETYCCPIRGMKEVSSSPVQRQSEEKEFHQRRWSEDKSKSVLARNALSGPDWESDWIDTTISSIQIMEIQQIIDHQYCIQSLQCGSGNYNYNIPVNKHTPTNVKFSLEINTTEPLIVFQCKFTLGNICFHSKRGTKGLESHREISQEMTQGYQHIWSLPVAPFSDSMFHFRVAAPDLADCSTDPYFAGIFFTDYFFYFYRRCA* 09BR004 ENSG00000169783.12(38844),ENSG00000280359.1(49618) ENSG00000169783.12 ./- -/- chr15:77734992 chr15:77690901 intergenic 5'UTR/splice-site deletion/read-through 6 21 1 45 50 high . . |Immunoglobulin_I-set_domain(100%),Leucine_rich_repeat(100%) . . . ENSG00000169783.12 . ENST00000561030.5 upstream downstream mismappers(2),mismatches(1) AGCGGGGAGAACGAGGACCGGGCTGGGCAG___...CGACGACTTGCA...___CCTCCGGCACCCACAGGCCCTGAGGCTCCAGTGCCCACAGGCAGAGAGGGCGACTGAGTCCAGCCCAGGCTGAGCCCTGCCCAGCTGTACTCCCCAGACACCCACCCAACCCGAG___GTGTCCCACCGAGGAGGCCCTGATCTTGAGCCCGGAGCCCTGAGCCCTGAGACGATGCTTGA|GGATCTTATGACCATGACCTGGCTACCTTGAGTCTGTGGGGCTACACAGCCTTCAGCCTGCATCTCCAGGGCTCTGACTCTATCCAGCTCCTGGACCAGCTCCCAAGTCTACTCCTGACCCCAGCCTGGGCCAAGGGGACTTCTCAAGCTTTGGGACCCAGCAGGACACAGCAGCAGTCAGG___TGCATGCTGGGACCGCGACGGACAGGCTGCCGCACCCCAGGCCCCCAGAGGCCAGTCTGTTTGCCTCCCAACG(CCATCTGACCCAG___GTGAGCAAGAGGATGCTGGCGGGGGGCGTGAGGAGCATGCCCAGCCCCCTCCTGGCCTGCTGGCAGCCCATCCTCCTGCTGGTGCTGGGCTCAGTGCTGTCAGGCTCGGCCACGGGCTGCCCGCCCCGCTGCGAGTGCTCCGCCCAGGACCGCGCTGTGCTGTGCCACCGCAAGCGCTTTGTGGCAGTCCCCGAGGGCATCCCCACCGAGACGCGCCTGCTGGACCTAGGCAAGAACCGCATCAAAACGCTCAACCAGGACGAGTTCGCCAGCTTCCCGCACCTGGAGGAGCTGGAGCTCAACGAGAACATCGTGAGCGCCGTGGAGCCCGGCGCCTTCAACAACCTCTTCAACCTCCGGACGCTGGGTCTCCGCAGCAACCGCCTGAAGCTCATCCCGCTAGGCGTCTTCACTGGCCTCAGCAACCTGACCAAGCTGGACATCAGCGAGAACAAGATCGTTATCCTACTGGACTACATGTTTCAGGACCTGTACAACCTCAAGTCACTGGAGGTTGGCGACAATGACCTCGTCTACATCTCTCACCGCGCCTTCAGCGGCCTCAACAGCCTGGAGCAGCTGACGCTGGAGAAATGCAACCTGACCTCCATCCCCACCGAGGCGCTGTCCCACCTGCACGGCCTCATCGTCCTGAGGCTCCGGCACCTCAACATCAATGCCATCCGGGACTACTCCTTCAAGAGGCTGTACCGACTCAAGGTCTTGGAGATCTCCCACTGGCCCTACTTGGACACCATGACACCCAACTGCCTCTACGGCCTCAACCTGACGTCCCTGTCCATCACACACTGCAATCTGACCGCTGTGCCCTACCTGGCCGTCCGCCACCTAGTCTATCTCCGCTTCCTCAACCTCTCCTACAACCCCATCAGCACCATTGAGGGCTCCATGTTGCATGAGCTGCTCCGGCTGCAGGAGATCCAGCTGGTGGGCGGGCAGCTGGCCGTGGTGGAGCCCTATGCCTTCCGCGGCCTCAACTACCTGCGCGTGCTCAATGTCTCTGGCAACCAGCTGACCACACTGGAGGAATCAGTCTTCCACTCGGTGGGCAACCTGGAGACACTCATCCTGGACTCCAACCCGCTGGCCTGCGACTGTCGGCTCCTGTGGGTGTTCCGGCGCCGCTGGCGGCTCAACTTCAACCGGCAGCAGCCCACGTGCGCCACGCCCGAGTTTGTCCAGGGCAAGGAGTTCAAGGACTTCCCTGATGTGCTACTGCCCAACTACTTCACCTGCCGCCGCGCCCGCATCCGGGACCGCAAGGCCCAGCAGGTGTTTGTGGACGAGGGCCACACGGTGCAGTTTGTGTGCCGGGCCGATGGCGACCCGCCGCCCGCCATCCTCTGGCTCTCACCCCGAAAGCACCTGGTCTCAGCCAAGAGCAATGGGCGGCTCACAGTCTTCCCTGATGGCACGCTGGAGGTGCGCTACGCCCAGGTACAGGACAACGGCACGTACCTGTGCATCGCGGCCAACGCGGGCGGCAACGACTCCATGCCCGCCCACCTGCATGTGCGCAGCTACTCGCCCGACTGGCCCCATCAGCCCAACAAGACCTTCGCTTTCATCTCCAACCAGCCGGGCGAGGGAGAGGCCAACAGCACCCGCGCCACTGTGCCTTTCCCCTTCGACATCAAGACCCTCATCATCGCCACCACCATGGGCTTCATCTCTTTCCTGGGCGTCGTCCTCTTCTGCCTGGTGCTGCTGTTTCTCTGGAGCCGGGGCAAGGGCAACACAAAGCACAACATCGAGATCGAGTATGTGCCCCGAAAGTCGGACGCAGGCATCAGCTCCGCCGACGCGCCCCGCAAGTTCAACATGAAGATGATATGAGGCCGGGGCGGGGGGCAGGGACCCCCGGGCGGCCGGGCAGGGGAAGGGGCCTGGCCGCCACCTGCTCACTCTCCAGTCCTTCCCACCTCCTCCCTACCCTTCTACACACGTTCTCTTTCTCCCTCCCGCCTCCGTCCCCTGCTGCCCCCCGCCAGCCCTCACCACCTGCCCTCCTTCTACCAGGACCTCAGAAGCCCAGACCTGGGGACCCCACCTACACAGGGGCATTGACAGACTGGAGTTGAAAGCCGACGAACCGACACGCGGCAGAGTCAATAATTCAATAAAAAAGTTACGAACTTTCTCTGTAACTTGGGTTTCAATAATTATGGATTTTTATGAAAACTTGAAATAATAAAAAGAGAAAAAAACTA)$ . 09BR004 ENSG00000100028.12 ENSG00000287420.1 +/+ +/- chr22:24557800 chr10:30536181 CDS/splice-site intron translocation/5'-5' 11 16 0 382 21 high out-of-frame . LSM_domain_(100%)| . . ENSG00000100028.12 ENSG00000287420.1 ENST00000402849.5 . downstream downstream mismatches(1) ^(GACTC)ACGCCTTCGCCGTAGCATCTTTCGCAGCGGACCGAAGAGAAGAAAAGTAGGCCAGAGCCG___AACTCTCTTCCTGCCAAGATGTCTATTGGTGTGCCGATTAAAGTACTGCATGAGGCCGAGGGCCACATTGTGACATGTGAGACGAACACCGGTGAGGTATATCGGGGGAAGCTCATTGAAGCAGAGGACAACATGAACTGCCAG|GTCTCTCTGCAAACAATCCCATCACCCCTACCAATGAGCTTTGCCTCTACTCACCCATCTGAGCTCCAGCCTTCGCGTGTGACTCCGAACGGTGGAGTTTTCTCCTAAATCCATTCATCTTGCCAAAA___CACTGTTCACAATAGCAAAGACATGGAATCTACTAAATGC...___GAATTGCATGGAAATACCAGGCCCCAGCTGGACATGACTGACATTTATCTACTCACATCC MSIGVPIKVLHEAEGHIVTCETNTGEVYRGKLIEAEDNMNCQ|vslqtipsplpmsfasthpselqpsrvtpnggvfs* 09BR004 ENSG00000255209.1(109261),ENSG00000279295.1(245244) ENSG00000257761.3 ./- -/- chr11:79721561 chr12:71589878 intergenic exon/splice-site translocation 7 18 1 81 39 high . . . . . . ENSG00000257761.3 . ENST00000660105.1 upstream downstream duplicates(1) GACATTTTCACTGGACCGATTGGACTGAAAAGGCAAGATTGAATGAG___...AGGATAAACAGTATTGCTGCTCTGAAGACAGCTTGAGTAACACTGTTCTTGGACATTGATGGGCTTGTCTAATTAAG___ATCAATGTTCAATGGAGCTTGGATTTGTCATGGGTCTCTGGTGACAAACATTGGTCATATTG|GATGTTGATATAAGGTCTCATTGCCTTCCTCAGCAATCTTCTGAATCTGGCATTCCTTCTGAGAAGACTAACAAGCATTCATCCAAAATGTTCGTCATTGGAAAGTTAGCTGTAATTTGATCTAACTTCTCACTCAATATGATAGTTTTTTTTTGGTATACAAGAGACCTGATGGAATCTTTCTTAGGTAAGCCAAATCTGTCTCTCTGAATCGTTCAC(CAGTTGGTTCTTGTTCTCTTAAAGAGTAAGTCAGCTTACTCTATGACTGTTTTTCAGTGCTATTAAGCGAAACTTGGGTTTTAGTCCTAGTTCCTCATCTGTGACCTTCGCAAGTCACTTATCCTTCTGACTCTATATTTTCATTGGCAAAATGACAAGGCCTGCTTTGCTCATTCCATAAGGCTGTCAAAAGAGGGGGAAACACAGGATCCATTAATTAAATACGTACTATTCAATGCTTTTCAGGTAGTGTGATGGTAACTTTATATACACTGAGTTATTAGTATTTCCAATCCTATGAGGCTGGTGGTGTGATGCCCATTTTTTTGAGGAGAAATTTGAGGCTGAAAAAAATTAAATACCTTGTCCAAGGATTACACAGATAGTAACAGAAGTAGGATTTGAACCCAGGTCTGTCTGGCAGTTGAGCTTAATCATTTTACTATTTGGCCTACTATAGGCTCGTACTTAAGAAAGCACTTAGTAAATTTCAATTATTCAAATATTTTAAATATTTTCCTTTAGCCTGCTTTTCTCCAGGTGACACATTCTCCATTTTTTAGACTATTATTTGATAGGATATCATTTCCCTATTCCACTCACTGTTTCATTCACTATTCTCATGGAGTAGCATGTTTTCAACATTCCCATAAAGTACTGTCTCTAGAGTGGAAAGTCATGTCCACAATGAGTATGAACCTGTATTCCATAATGCTTCTCCAGCCTATCACATGCATTTTCTGCCCGTTTCTGAAGTTTTATCATCCTACCCAATAGGCTTCAGGAACTTGTGTATGAGATGAACGAGTCAGTGTAGAATCTGAGTTCAACATCTTTAGAAATGTTCATAAGGAGGACATCGAAATGGGGATATGGCTACACAGCCCCTCCCCACTTCACTTGCAAGGAAAAGTGACCATAACCTAATTGTAGTTAAGGGTCTCTGTGGCCTGAGAGAGAAAATAGTTAGTGTTTAGTGGCCCATAGGAAGATAGTCTCTTTTATCTGCATAGTGGAACTGTAAAATCAAATCTCCAGTACTGAAGAGCATGAATGGAACCAGTAGGGTCACAGCAATCCCATCTATTTATCTAGGACTTCTTTCTCATCAGATGGGCCTCTGAACTAAATGTGATAAGATTAACAAAAGAAGCAGGACATTGTTACTTTTTCATATGTTAGAGTTTTTCTGGTTCTAAATGAAGAAGGTGTTGCTAATTTTATTTCCTTTTACTGCTTTATTGTTATATTTTTAGCCAAAACTAAATGAGTAGATGTTTTTTATTTCATATAAGAATGATTTTCTCTTCTGTAACAGTTGAAAAAAAATGATGTGCAGTAACAGCCACCTAATATATTTTTCTATTAAAATGTCCCTGAAAATAGTTATAGGTGACATATGAAGAGAGGGACTAGAAATGATGAGTTTTTTGATGTAACTGGTTAAATTCAAAAGCAAAGGTAGCTCCATTGTGAGCATAAGGTCTTAGCCTAAAAGGTGGCTTTCCAGAGAGGCCTTTCCGGAGCTCCATTTCTAAAGCACCACACTAATTATTCCCAATAGACTATTTAAAATAGCTTCATTTCCTTCATTTATGTTTCTATCGGATATTTCCATGTTTATATTTGTTTACTGTCTATCTCCCCTCCGCTGGAATGCGAATTCCAGACCTTGTTTTGTTATCCGCAGTGCATAGAATACAGCACATAATGGTGCAGAATACTTGTTGAATGAATGAACCTGTTTTTGGAAACAAAATTGTTACTGCCTTACTTTAAGCTAGTTCACAGTTTATGGTTTTTACAAATTTGTTCCATGGTTTGTTCTTTACTGTTGTTCAATGTCTGAACAGTACATCTTTCCCCTTCTCACTGTAGATTTATTTATTTGTGGATGTAATTCAAGTTCTTTCTGATTATGCTATATTAGAGTGGAGAACATTTATCAGATGGCAGTGTTTTGTGTAAGGTGTATTATAACTAGTGTTTTGTCAATAAAATAATAAAGCCTGTGGATT)$ . 09BR004 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 9 1 25 30 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(2) GAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___...GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAG(GAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 09BR004 ENSG00000144320.14 ENSG00000175497.17 -/- +/- chr2:175970764 chr2:115470175 CDS/splice-site intron deletion/5'-5' 11 3 1 70 19 high out-of-frame . . . . ENSG00000144320.14 ENSG00000175497.17 ENST00000544803.5 . upstream downstream . ^(TTTCATGGGAAGGAGTTGGCCCGGCTTGTCTCTCTGTCAGTGGCGGCTGCTGCCTGCTCTGGAGGCAGGCTGGGCGGTGGCGGCCGAGACTGGCGGGGGTGGACGCCCGGGCCGGGCTGCGCCCGCTTCTTGCAG___CTGTGAATTCCTTTGGACAATTGATGATATTTATCATTGTGCCCAGTTTCTACAAATAAAAGATGGGTGGATTATTTTCTCGATGGAGG___ACAAAACCTTCAACTGTAGAAGTTCTAG)AAAGTATAGATAAG___GAAATTCAAGCATTGGAAGAATTTAGGGAAAAAAATCAGAGATTACAAAAATTATGGGTTGGAAGATTAATTCTGTATTCCTCAGTTCTCTATCTGTTTACATGCTTAATTGTATATTTGTGGTATCTTCCTGATGAATTTACAGCAAGACTTGCCATGACACTCCCATTTTTTGCTTTTCCATTGAT___CATCTGGAGCATAAGAACAGTAATTATTTTCTTCTTTTCCAAGAGAACAGAAAGAAATA___ATGAAGCATTGGATGATTTAAAATCCCAGAGGAAAAAAATA|ATATCCGAGTTGAACATTCTTGCTTTAGAAGAGGGCAATTCATAG___CTCCAAAGACATTATGACTGGGACTGCTCTATCACATCACCCTTCACTAATGGAAACAGACACATGGTATCATTTGAATCATTTCAGGGTAATCTAGAGTAGAG MGGLFSRWRTKPSTVEVLESIDKEIQALEEFREKNQRLQKLWVGRLILYSSVLYLFTCLIVYLWYLPDEFTARLAMTLPFFAFPLIIWSIRTVIIFFFSKRTERNNEALDDLKSQRKKI|iselnilaleegns* 09BR004 ENSG00000137492.8 ENSG00000255178.1(149542),ENSG00000254437.1(44949) -/- ./- chr11:76380748 chr11:80912368 CDS/splice-site intergenic duplication 6 6 0 19 17 high out-of-frame . THAP_domain(100%)| . . ENSG00000137492.8 . ENST00000260045.8 . upstream downstream . ^(GCATTGTGGGAAGGAGGCGGCAGCGTCTCGGGCGGGCGGGAGGTGCACCAGCGGCGGCGGCGGCGGTAAATCCTCCCGGCCGCTCACAGCACTGTGGAGCCGCGTCCCCAGCCCGGCCTCGGACCGCGGCACCCCTCCTGGCCCTCGCGGCTTCTAGCCCGCCCGCCCCTCCCCCGCGCGTCGGCCCTGCCGAGCCGGCCGGCCGGCCTGGCTCCCCTCCCCGGCCCC)GACGGGCGGGCGGACTGCCCTGAGGAGGCGGGGAGGGGAGGGCTGGGCCGGCCGGCGGGCGGGCGACGATGCCGAACTTCTGCGCTGCCCCCAACTGCACGCGGAAGAGCACGCAGTCCGACTTGGCCTTCTTCAGGTTCCCGCGGGACCCTGCCAG|ATCACCCCAGGTAACTGTCTCTCCACATCAATCTATTGATTCTCACTGCATGGAGTGAAGAAGAAACCACCAGATCAG___ATAAGTCGACATTTTCACTGGACCGATTGGACTGAAAAGGCAAG MPNFCAAPNCTRKSTQSDLAFFRFPRDPAr|spqvtvsphqsidshcme* 09BR004 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 7 3 0 88 32 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAA)CTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09BR004 ENSG00000149256.16 ENSG00000255014.1(31911),ENSG00000255178.1(65301) -/- ./+ chr11:79297488 chr11:80685899 5'UTR/splice-site intergenic inversion 3 6 0 124 15 high . . . . . ENSG00000149256.16 . ENST00000278550.12 . upstream upstream duplicates(1),mismatches(1) ^(ATTCATGTAACCTGCGTGTGCGTGTGCGTGTGTGTGTGTGTCTCTCTCTCGCTCGCCCTCTCTTTCTGTGTGTAAGAGAGCGAGGGTGGGGGACGGAGGCAGGCAGGCGAGCAGGCAGGGAGGGGAAGAAGAGAAGGGAAGCTATTAAACACACACACACACACACACACTCACACACGCGCGCGCACACACCCGCCCCAACCCCCCAGAAGCCTCGGGATTGCAGCTGTTTCATGTGGGGCAGCAGTGCTGGCAGGGACGCCGGCCGGGAGCGGCCGGGAGCGGGAGCCGGTCGTGCGCGCGCGGCTGGAGGCTCGCTGGGGCTCCGCTCCCCGCGGGAGCTATTGTTGGTCTCGCTGGAGCTGAGCGCAGAGCCCGGACCTGCTCCTTCCTGGGCGCCCCGCTACGGCTCGCGGAGCAGAGGAGCCGCGCCGCCGAGAGAGAGAGGAGCCACCGGCGCGGCGCCTTGCCTCCCTGCCGC)CGTCCTCGCCGCTTCCCCGGCGGTAGCAGCCTGCAGCCACG___ATGGAAAAACTGAGAATCAGAGAGGGCTAGTGATCTCTCAGACACTTGGTCGGTAG|GACAAGATTTTCTCTGGTCTTCTGTTTCCCATTTCTAAAATAATGAAATAACGCCACTTCAGAAGTTCCTAACGAGGACAAAATGAGAGGTCATACGCCAAGTGTATCAAGTACACA___GAAATTACCTCATTTCTAAAGGGAAGATTGGATGATACTCCACAGCCAATATTGACTTACTGAAGATGTTATCAAATCCTCTGCCTTTCCTCATAATGATATGAGAAGATAAAGACGTGCTCCGCTACAGAGTCTTCAAAG . 09BR004 ENSG00000255209.1(109261),ENSG00000279295.1(245244) ENSG00000257761.3 ./- -/- chr11:79721561 chr12:71589878 intergenic exon/splice-site translocation 7 0 1 81 39 high . . . . . . ENSG00000257761.3 . ENST00000660105.1 upstream downstream duplicates(1) GACATTTTCACTGGACCGATTGGACTGAAAAGGCAAGATTGAATGAG___...AGGATAAACAGTATTGCTGCTCTGAAGACAGCTTGAGTAACACTGTTCTTGGACATTGATGGGCTTGTCTAATTAAG___ATCAATGTTCAATGGAGCTTGGATTTGTCATGGGTCTCTGGTGACAAACATTGGTCATATTG|GATGTTGATATAAGGTCTCATTGCCTTCCTCAGCAATCTTCTGAATCTGGCATTCCTTCTGAGAAGACTAACA(AGCATTCATCCAAAATGTTCGTCATTGGAAAGTTAGCTGTAATTTGATCTAACTTCTCACTCAATATGATAGTTTTTTTTTGGTATACAAGAGACCTGATGGAATCTTTCTTAGGTAAGCCAAATCTGTCTCTCTGAATCGTTCACCAGTTGGTTCTTGTTCTCTTAAAGAGTAAGTCAGCTTACTCTATGACTGTTTTTCAGTGCTATTAAGCGAAACTTGGGTTTTAGTCCTAGTTCCTCATCTGTGACCTTCGCAAGTCACTTATCCTTCTGACTCTATATTTTCATTGGCAAAATGACAAGGCCTGCTTTGCTCATTCCATAAGGCTGTCAAAAGAGGGGGAAACACAGGATCCATTAATTAAATACGTACTATTCAATGCTTTTCAGGTAGTGTGATGGTAACTTTATATACACTGAGTTATTAGTATTTCCAATCCTATGAGGCTGGTGGTGTGATGCCCATTTTTTTGAGGAGAAATTTGAGGCTGAAAAAAATTAAATACCTTGTCCAAGGATTACACAGATAGTAACAGAAGTAGGATTTGAACCCAGGTCTGTCTGGCAGTTGAGCTTAATCATTTTACTATTTGGCCTACTATAGGCTCGTACTTAAGAAAGCACTTAGTAAATTTCAATTATTCAAATATTTTAAATATTTTCCTTTAGCCTGCTTTTCTCCAGGTGACACATTCTCCATTTTTTAGACTATTATTTGATAGGATATCATTTCCCTATTCCACTCACTGTTTCATTCACTATTCTCATGGAGTAGCATGTTTTCAACATTCCCATAAAGTACTGTCTCTAGAGTGGAAAGTCATGTCCACAATGAGTATGAACCTGTATTCCATAATGCTTCTCCAGCCTATCACATGCATTTTCTGCCCGTTTCTGAAGTTTTATCATCCTACCCAATAGGCTTCAGGAACTTGTGTATGAGATGAACGAGTCAGTGTAGAATCTGAGTTCAACATCTTTAGAAATGTTCATAAGGAGGACATCGAAATGGGGATATGGCTACACAGCCCCTCCCCACTTCACTTGCAAGGAAAAGTGACCATAACCTAATTGTAGTTAAGGGTCTCTGTGGCCTGAGAGAGAAAATAGTTAGTGTTTAGTGGCCCATAGGAAGATAGTCTCTTTTATCTGCATAGTGGAACTGTAAAATCAAATCTCCAGTACTGAAGAGCATGAATGGAACCAGTAGGGTCACAGCAATCCCATCTATTTATCTAGGACTTCTTTCTCATCAGATGGGCCTCTGAACTAAATGTGATAAGATTAACAAAAGAAGCAGGACATTGTTACTTTTTCATATGTTAGAGTTTTTCTGGTTCTAAATGAAGAAGGTGTTGCTAATTTTATTTCCTTTTACTGCTTTATTGTTATATTTTTAGCCAAAACTAAATGAGTAGATGTTTTTTATTTCATATAAGAATGATTTTCTCTTCTGTAACAGTTGAAAAAAAATGATGTGCAGTAACAGCCACCTAATATATTTTTCTATTAAAATGTCCCTGAAAATAGTTATAGGTGACATATGAAGAGAGGGACTAGAAATGATGAGTTTTTTGATGTAACTGGTTAAATTCAAAAGCAAAGGTAGCTCCATTGTGAGCATAAGGTCTTAGCCTAAAAGGTGGCTTTCCAGAGAGGCCTTTCCGGAGCTCCATTTCTAAAGCACCACACTAATTATTCCCAATAGACTATTTAAAATAGCTTCATTTCCTTCATTTATGTTTCTATCGGATATTTCCATGTTTATATTTGTTTACTGTCTATCTCCCCTCCGCTGGAATGCGAATTCCAGACCTTGTTTTGTTATCCGCAGTGCATAGAATACAGCACATAATGGTGCAGAATACTTGTTGAATGAATGAACCTGTTTTTGGAAACAAAATTGTTACTGCCTTACTTTAAGCTAGTTCACAGTTTATGGTTTTTACAAATTTGTTCCATGGTTTGTTCTTTACTGTTGTTCAATGTCTGAACAGTACATCTTTCCCCTTCTCACTGTAGATTTATTTATTTGTGGATGTAATTCAAGTTCTTTCTGATTATGCTATATTAGAGTGGAGAACATTTATCAGATGGCAGTGTTTTGTGTAAGGTGTATTATAACTAGTGTTTTGTCAATAAAATAATAAAGCCTGTGGATT)$ . 09BR004 ENSG00000061676.15 ENSG00000259283.2 -/- -/+ chr2:183023806 chr16:55283384 CDS/splice-site intron translocation/5'-5' 1 6 1 153 17 high out-of-frame . . . . ENSG00000061676.15 ENSG00000259283.2 ENST00000361354.9 . upstream upstream . ^(CTCAGCCGCCGGAGACGCCGCCGCCGCCGCCGCCGCCGCCACACCTAGTGGAGCAGCCGGGGAAGGCGGCTCGTTGGGGGCTGGGGCGGAGAGCGCCGGGGGTGGGGGCGGAAGGGCGGCGGGCGGAAGGCAGGAGGCTGCCGGGGCGCGGGCTGCTGCGGGAGAAGGGGCTCCGAGGAGTCCGCCGCGGCTCGCTCTGTCGCCGGCGCGGGATTGGGGCGCGAGGGCCATGGGCGCGCTCTCCTAAGGCGGAGGTCGCGGGCGGGAGGGGAGGAGGCCCGAGAGAGGCTGCTGCGAAGGCCGCGGGCCCGTGACTGGGCGCGAGGCGGCCGGCGGCGGCGGCGGCACCAGCACCACCATGTCGCGCTCAGTGCTGCAGCCCAGTCAGCAGAAGCTGGCGGAGAAGCTCACCATCCTCAAC)GACCGGGGCGTCGGCATGCTCACCCGCCTCTACAACATCAAGAAG___GCATGTGGAGACCCCAAGGCAAAACCATCCTATCTTATCGACAAAAACCTGGAATCTGCTGTGAAATTCATAGTCAGAAAATTCCCTGCTGTAGAAACCCGCAACAACAAT|CCATTCAGTCTTTGGGTCTACTCAGGAAGTCTCATTTGTAAaAGGAAAAACAAActTGAAAACTGGAGAAAGAAGAAAAGCCCAGGTCCAATACTTAGCAGGTCCTCAGTAAAAGTGTATTTATTAATTTGAATTGAGCTGTGCTTGCATCAGTGTAGGACCTGTGACCAGGAGCAAAATAAAGAAGCAAA MSRSVLQPSQQKLAEKLTILNDRGVGMLTRLYNIKKACGDPKAKPSYLIDKNLESAVKFIVRKFPAVETRNNN|pfslwvysgslickrknklenwrkkkspgpilsrssvkvylli* 09BR004 ENSG00000178904.19 ENSG00000224605.1 +/+ -/- chr19:32458509 chr6:91390544 CDS/splice-site exon/splice-site translocation 5 1 1 121 102 high out-of-frame . . . . ENSG00000178904.19 ENSG00000224605.1 ENST00000392250.7 ENST00000434493.1 downstream downstream . ^(ATTTCCACAAAGCTCCGCGGCGGTTCTGCCCTCCTTGTACCCGCGGCGCGCTGCGGCCCGTGGCGCGGCCCCGTTCCCGCCTAGCCCCGTCGGCCTCCTTCCCCTCCCGGAGCCGCGCGTGAGGACGGCTGAGGCCGCAG___GAGTGATTTGGAGAACAATGCATGTAAGTCTGACATCATGATGTCCATCCGGCAAAGAAGAGAAATAAGAGCCACAGAAGTTTCTGAAGACTTTCCAGCCCAAGAAGAAAATGTGAAGTTGGAAAATAAATTGCCATCTG___GTTGTACCAGTAGAAGATTATGGAAGATTTTGTCATTGACAATTGGTGGAACCATTGCCCTTTGCATTGGACTTCTTACATCTGTCTACCTTGCCACGTTACATGAAAATGATTTATGGTTTTCTAATATTAAG___GAAGTGGAGCGAGAAATCTCATTCAGAACAGAGTGTGGCCTGTATTACTCCTACTACAAGCAGATGCTGCAGGCTCCAACCCTCGTGCAAG___GTTTTCATGGCCTAATATATGATAATAAAACTGAATCTATGAAGACAATTAACCTCCTTCAGCGAATGAATATTTACCAAGAGGTTTTTCTCAGTATTTTATATAGAGTTCTACCCATACAG___AAATATTTAGAGCCAGTTTATTTTTATATTTACACCTTATTTGGGCTCCAGGCGATCTATGTCACAGCTCTCTACATAACCAGCTGGCTACTCAGTGGTACATGGCTGTCAGGACTGTTGGCAGCTTTCTGGTATGTCACAAATAG___AATAGATACCACAAGAGTTGAGTTTACCATCCCACTGAGGGAGAACTGGGCGCTGCCATTCTTTGCAATTCAGATAGCAGCAATTACATATTTCCTGAGACCAAACTTACAGCCTCTTTCTGAA___AGGCTGACACTTCTTGCCATTTTCATATCAACTTTTCTCTTTAGTCTGACATGGCAATTTAATCAATTTATGATGCTGATGCAAGCATTAGTGCTGTTCACACTGGACTCCCTGGACATGCTGCCAGCAGTGAAG___GCGACATGGCTGTATGGAATACAGATAACAAGTTTACTCCTGGTCTGCATTCTTCAGTTTTTTAATTCCATGATTCTTGGATCACTGCTTATCAGTTTTAACCTTTCAGTATTCATTGCAAGAAAACTTCAG___AAAAATCTGAAAACTGGAAGCTTCCTTAATAGGCTTGGGAAACTTTTGTTACATTTATTTATGGTTTTATGTTTGACACTTTTTCTCAACAACATAATTAAG___AAAATTCTTAACCTGAAGTCAGATGAACACATATTTAAATTTCTGAAGGCAAAATTTGGGCTTGGAGCAAC)AAG___GGATTTTGATGCAAATCTCTATCTGTGTGAAGAAGCTTTTGGCCTCCTGCCTTTTAATACATTTGGAAGGCTTTCAGATACTCTGCTTTTTTATGCTTACATATTCGTTCTGTCCATCACAGTGATTGTAGCATTCGTTGTTGCCTTTCATAATCTCAG|ATTGCTGTCCAGGGCACCAGCGAATGCTGCACCCGTTCTTGGCATATCATCCTTCTCGTAAAAGGCAATCATGGCAGGAAAACTGAGACgAATGGCTTTTTCATTCTCCACCTCTCAGCTCTCCATAGTAACGGCACTGGTTCTTCTCATTGTGTATTCCTTTTCAGATGCATACTTTCTCC(CTTTAACAACTTTTTTATATATAATTTAAAAAATAAATTATTCCCAGAAA)$ MMSIRQRREIRATEVSEDFPAQEENVKLENKLPSGCTSRRLWKILSLTIGGTIALCIGLLTSVYLATLHENDLWFSNIKEVEREISFRTECGLYYSYYKQMLQAPTLVQGFHGLIYDNKTESMKTINLLQRMNIYQEVFLSILYRVLPIQKYLEPVYFYIYTLFGLQAIYVTALYITSWLLSGTWLSGLLAAFWYVTNRIDTTRVEFTIPLRENWALPFFAIQIAAITYFLRPNLQPLSERLTLLAIFISTFLFSLTWQFNQFMMLMQALVLFTLDSLDMLPAVKATWLYGIQITSLLLVCILQFFNSMILGSLLISFNLSVFIARKLQKNLKTGSFLNRLGKLLLHLFMVLCLTLFLNNIIKKILNLKSDEHIFKFLKAKFGLGATRDFDANLYLCEEAFGLLPFNTFGRLSDTLLFYAYIFVLSITVIVAFVVAFHNLr|llsrapanaapvlgissfs* 09BR004 ENSG00000178904.19 ENSG00000224605.1 +/+ -/- chr19:32458509 chr6:91392232 CDS/splice-site exon translocation 2 4 1 121 39 high out-of-frame . . . . ENSG00000178904.19 ENSG00000224605.1 ENST00000392250.7 ENST00000434493.1 downstream downstream . ^(ATTTCCACAAAGCTCCGCGGCGGTTCTGCCCTCCTTGTACCCGCGGCGCGCTGCGGCCCGTGGCGCGGCCCCGTTCCCGCCTAGCCCCGTCGGCCTCCTTCCCCTCCCGGAGCCGCGCGTGAGGACGGCTGAGGCCGCAG___GAGTGATTTGGAGAACAATGCATGTAAGTCTGACATCATGATGTCCATCCGGCAAAGAAGAGAAATAAGAGCCACAGAAGTTTCTGAAGACTTTCCAGCCCAAGAAGAAAATGTGAAGTTGGAAAATAAATTGCCATCTG___GTTGTACCAGTAGAAGATTATGGAAGATTTTGTCATTGACAATTGGTGGAACCATTGCCCTTTGCATTGGACTTCTTACATCTGTCTACCTTGCCACGTTACATGAAAATGATTTATGGTTTTCTAATATTAAG___GAAGTGGAGCGAGAAATCTCATTCAGAACAGAGTGTGGCCTGTATTACTCCTACTACAAGCAGATGCTGCAGGCTCCAACCCTCGTGCAAG___GTTTTCATGGCCTAATATATGATAATAAAACTGAATCTATGAAGACAATTAACCTCCTTCAGCGAATGAATATTTACCAAGAGGTTTTTCTCAGTATTTTATATAGAGTTCTACCCATACAG___AAATATTTAGAGCCAGTTTATTTTTATATTTACACCTTATTTGGGCTCCAGGCGATCTATGTCACAGCTCTCTACATAACCAGCTGGCTACTCAGTGGTACATGGCTGTCAGGACTGTTGGCAGCTTTCTGGTATGTCACAAATAG___AATAGATACCACAAGAGTTGAGTTTACCATCCCACTGAGGGAGAACTGGGCGCTGCCATTCTTTGCAATTCAGATAGCAGCAATTACATATTTCCTGAGACCAAACTTACAGCCTCTTTCTGAA___AGGCTGACACTTCTTGCCATTTTCATATCAACTTTTCTCTTTAGTCTGACATGGCAATTTAATCAATTTATGATGCTGATGCAAGCATTAGTGCTGTTCACACTGGACTCCCTGGACATGCTGCCAGCAGTGAAG___GCGACATGGCTGTATGGAATACAGATAACAAGTTTACTCCTGGTCTGCATTCTTCAGTTTTTTAATTCCATGATTCTTGGATCACTGCTTATCAGTTTTAACCTTTCAGTATTCATTGCAAGAAAACTTCAG___AAAAATCTGAAAACTGGAAGCTTCCTTAATAGGCTTGGGAAACTTTTGTTACATTTATTTATGGTTTTATGTTTGACACTTTTTCTCAACAACATAATTAAG___AAAATTCTTAACCTGAAGTCAGATGAACACATATTTAAATTTCTGAAGGCAAAATTTGGGCTTGG)AGCAACAAG___GGATTTTGATGCAAATCTCTATCTGTGTGAAGAAGCTTTTGGCCTCCTGCCTTTTAATACATTTGGAAGGCTTTCAGATACTCTGCTTTTTTATGCTTACATATTCGTTCTGTCCATCACAGTGATTGTAGCATTCGTTGTTGCCTTTCATAATCTCAG|ATTCCAGGTGCCTCAGGGATGAAATACAG___ATTGCTGTCCAGGGCACCAGCGAATGCTGCACCCGTTCTTGGCATATCATCCTTCTCGTAAAAGGCAATCATGGCAGGAAAACTGAGAC(CAATGGCTTTTTCATTCTCCACCTCTCAGCTCTCCATAGTAACGGCACTGGTTCTTCTCATTGTGTATTCCTTTTCAGATGCATACTTTCTCCCTTTAACAACTTTTTTATATATAATTTAAAAAATAAATTATTCCCAGAAA)$ MMSIRQRREIRATEVSEDFPAQEENVKLENKLPSGCTSRRLWKILSLTIGGTIALCIGLLTSVYLATLHENDLWFSNIKEVEREISFRTECGLYYSYYKQMLQAPTLVQGFHGLIYDNKTESMKTINLLQRMNIYQEVFLSILYRVLPIQKYLEPVYFYIYTLFGLQAIYVTALYITSWLLSGTWLSGLLAAFWYVTNRIDTTRVEFTIPLRENWALPFFAIQIAAITYFLRPNLQPLSERLTLLAIFISTFLFSLTWQFNQFMMLMQALVLFTLDSLDMLPAVKATWLYGIQITSLLLVCILQFFNSMILGSLLISFNLSVFIARKLQKNLKTGSFLNRLGKLLLHLFMVLCLTLFLNNIIKKILNLKSDEHIFKFLKAKFGLGATRDFDANLYLCEEAFGLLPFNTFGRLSDTLLFYAYIFVLSITVIVAFVVAFHNLr|fqvpqg* 09BR004 ENSG00000187231.14 ENSG00000255209.1(351910),ENSG00000279295.1(2595) -/- ./+ chr2:179132304 chr11:79964210 CDS/splice-site intergenic translocation 1 5 0 76 10 high out-of-frame . Divergent_CRAL/TRIO_domain(100%)| . . ENSG00000187231.14 . ENST00000428443.8 . upstream upstream duplicates(2) ^(CTTCCTCCTTCCCGCGCCGGGCGGGTTGCTGTACCGCCGTCACCCGGGCGCGCGCGGGGTCGCGCGGACGCGGCTCGGGCCGCGGGTGCCGAGAGGTCGCCGGGCCACCCGCACCCCCGCTCCCCGCCTGACGCACGGAGGGGCCGGGACGCGATTTGCCGCGAGTGACTGGAGCCGCAGCCGTCGCCGCTGCTGCCGCCGCCGCCCGGGCCCGCTCCGCCCCCAGCCCGCCTTCCTCCCGCCGCGCCCTCCGCCTCCGCCCGCACCTCGCTAGCGTTCCCCTGTCTTCCCCAACGCCCCGGAGCCGCCGGCCGCTAGCGTCAGCGCCAGCCAG___AATTAAGGAAGTTCACTGGAGTAAAATGGAGGCCTCAGTAATATTACCCATTCTGAAGAAAAAACTAGCCTTCCTTTCAG___GAGGAAAAGACAGACGGAGTGGCCTCATTTTGACAATTCCATTATGCCTCGAACAGACAAATATGGATGAGCTGAGTGTCACCTTAGACTACCTACTCAGCATTCCAAG___TGAGAAGTGTAAGGCTAGAGGATTTACCGTGATTGTGGATGGCAGAAAATCACAGTGGAATGTGGTGAAAACAGTAGTCGTAATGCTACAG___AATGTTGTTCCAGCTGAGGTGTCCCTTGTTTGTGTGGTAAAGCCAGATGAATTCTGGGATAAGAAAGTAACGCATTTTTGTTTTTGGAAGGAGAAGGATAGACTTGGCTTTGAG___GTTATTTTAGTGTCCGCCAACAAATTGACTCGTTATATAGAACCATGCCAATTAACAGAAGATTTTGGTGGGAGTCTCACCTATGATCACATGGACTGGTTAAATAAGAGGCTG___GTTTTTGAGAAGTTTACAAAGGAATCTACATCATTATTAGATGAACTTGCTTTGATTAACAATGGAAGTGATAAAGGAAATCAGCAAGAGAAAGAAAG___GTCTGTGGATTTAAACTTTCTTCCATCGGTTGATCCTGAAACAGTTCTTCAGACAG___GGCATGAATTGTTGTCCGAATTACAGCAGCGTCGATTTAATGGCTCAGACGGAGGGGTTTCATGGTCTCCTATGGATGATGAACTTCTTGCACAGCCACAGGTTATGAAATTATTAGATTCACTCCGAGAGCAATATACCCGCTACCAGGAAGTTTGTAGGCAACGTAGCAAGCGCACACAGTTAGAAGAGATTCAACAGAAGGTAATGCAG___GTGGTGAACTG)GCTAGAAGGGCCTGGATCAGAACAACTAAGAGCCCAGTGGGGCATTGGAGACTCCATTAGGGCCTCCCAGGCCCTACAGCAGAAACACGAAGAGATTGAGAGCCAGCACAGT|TGGAACCACAATAACTTCTAATCTCTGGTAAGAACACATGAAAGAGAAGCTGGACAGACTGAAATTGGGTCCTGTGTTTTTCTGCTTTATCCTGCACTGAAGCTTTTAGGAGGTGAATGTTGGCATTATTAGAGGCCTCAAAGGCACACCAGTTGCCGGGATGTACcTCAAGG MEASVILPILKKKLAFLSGGKDRRSGLILTIPLCLEQTNMDELSVTLDYLLSIPSEKCKARGFTVIVDGRKSQWNVVKTVVVMLQNVVPAEVSLVCVVKPDEFWDKKVTHFCFWKEKDRLGFEVILVSANKLTRYIEPCQLTEDFGGSLTYDHMDWLNKRLVFEKFTKESTSLLDELALINNGSDKGNQQEKERSVDLNFLPSVDPETVLQTGHELLSELQQRRFNGSDGGVSWSPMDDELLAQPQVMKLLDSLREQYTRYQEVCRQRSKRTQLEEIQQKVMQVVNWLEGPGSEQLRAQWGIGDSIRASQALQQKHEEIESQHS|wnhnnf* 09BR004 ENSG00000100311.17 ENSG00000196588.19 -/- -/+ chr22:39230084 chr22:40419912 CDS/splice-site intron inversion/5'-5' 2 3 1 94 12 high out-of-frame . PDGF/VEGF_domain(100%),Platelet-derived_growth_factor__N_terminal_region(100%)| . . ENSG00000100311.17 ENSG00000196588.19 ENST00000331163.11 . upstream upstream . ^(GGCAACTTCTCCTCCTGCAGCCGGGAGCGGCCTGCCTGCCTCCCTGCGCACCCGCAGCCTCCCCCGCTGCCTCCCTAGGGCTCCCCTCCGGCCGCCAGCGCCCATTTTTCATTCCCTAGATAGAGATACTTTGCGCGCACACACATACATACGCGCGCAAAAAGGAAAAAAAAAAAAAAAAGCCCACCCTCCAGCCTCGCTGCAAAGAGAAAACCGGAGCAGCCGCAGCTCGCAGCTCGCAGCTCGCAGCCCGCAGCCCGCAGAGGACGCCCAGAGCGGCGAGCGGGCGGGCAGACGGACCGACGGACTCGCGCCGCGTCCACCTGTCGGCCGGGCCCAGCCGAGCGCGCAGCGGGCACGCCGCGCGCGCGGAGCAGCCGTGCCCGCCGCCCGGGCCCCGCGCCAGGGCGCACACGCTCCCGCCCCCCTACCCGGCCCGGGCGGGAGTTTGCACCTCTCCCTGCCCGGGTGCTCGAGCTGCCGTTGCAAAGCCAACTTTGGAAAAAGTTTTTTGGGGGAGACTTGGGCCTTGAGGTGCCCAGCTCCGCGCTTTCCGATTTTGGGGGCCTTTCCAGAAAATGTTGCAAAAAAGCTAAGCCGGCGGGCAGAGGAAAACGCCTGTAGCCGGCGAGTGAAGACGAACCATCGACTGCCGTGTTCCTTTTCCTCTTGGAGGTTGGAGTCCCCTGGGCGCCCCCACACGGCTAGACGCCTCGGCTGGTTCGCGACGCAGCCCCCCGGCCGTGGATGCTCACTCGGGCTCGGGATCCGCCCAGGTAGCGGCCTCGGACCCAGGTCCTGCGCCCAGGTCCTCCCCTGCCCCCCAGCGACGGAGCCGGGGCCGGGGGCGGCGGCGCCCGGGGGCCATGCGGGTGAGCCGCGGCTGCAGAGGCCTGAGCGCCTGATCGCCGCGGACCCGAGCCGAGCCCACCCCCCTCCCCAGCCCCCCACCCTGGCCGCGGGGGCGGCGCGCTCGATCTACGCGTCCGGGGCCCCGCGGGGCCGGGCCCGGAGTCGGCATGAATCGCTGCTGGGCGCTCTTCCTGTCTCTCTGCTGCTACCTGCGTCTGGTCAGCGCCGAG___GGGGACCCCATTCCCGAGGAGCTTTATGAGATGCTGAGTGACCACTCGATCCGCTCCTTTGATGATCTCCAACGCCTGCTGCACGGAGACCCCGGAG___AGGAAGATGGGGCCGAGTTGGACCTGAACATGACCCGCTCCCACTCTGGAGGCGAGCTGGAGAGCTTGGCTCGTGGAAGAAGGAGCCTGG___GTTCCCTGACCATTGCTGAGCCGGCCATGATCGCCGAGTGCAAGACGCGCACCGAGGTGTTCGAGATCTCCCGGCGCCTCATAGACCGCACCAACGCCAACTTCCTGGTGTGGCCGCCCTGTGTGGAGGTGCAGCGCTGCTCCGGCTGCTGCAACAACCGCAACGTGCAGTGCCGCCCCACCCAGGTGCAGCTGCGA)CCTGTCCAG___GTGAGAAAGATCGAGATTGTGCGGAAGAAGCCAATCTTTAAGAAGGCCACGGTGACGCTGGAAGACCACCTGGCATGCAAGTGTGAGACAGTGGCAGCTGCACGGCCTGTGACCCGAAGCCCGGGGGGTTCCCAGGAGCAGCGAG|GCAGACACTGCACCTGAACGGCAGAGTGAGCTCTGCATTAACCGGCAAAGGGGAAAATGCGGGCAGGGTTGCTACTGGACAGTCCTGTCTACACTGACCAGGTCTGCGACTGTGGACAAGCTCCTCCTCCTGTCACTGCCTCAGCCTGACCATCCTCAAAGGGGCACCAATCCCCACTTCTCACACTGCATGCAACACGTAAGTCGAGGAAGATAAGAG MNRCWALFLSLCCYLRLVSAEGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQR|grhct* 09BR004 ENSG00000165630.14 ENSG00000267133.2 +/+ +/- chr10:13605744 chr19:32106578 CDS/splice-site exon translocation/5'-5' 1 3 0 198 5 high out-of-frame . pre-mRNA_processing_factor_4_(PRP4)_like(100%)| . . ENSG00000165630.14 ENSG00000267133.2 ENST00000378572.8 . downstream downstream . ^(AGTTGTTCTCAGGTGTTTGGGCTTGTTGTTCCGTATACTCAGTGGGTTCGCGGCCGCCGGCCCAGTGAGGCTGGGTTCGAGGAGCTGGAGCGGGAAACTGGAGCTTAAATTCTGGCGGCGAGATGGACATTCTGAAATCAGAGATCCTTCGGAAGCGGCAGCTGGTGGAGGACAGGAACCTGCTGGTG___GAAAATAAAAAATATTTCAAGCGTAGTGAGCTCGCCAAAAAAGAAGAGGAAGCATATTTTGAAAGATGTGGCTACAAG___ATACAGCCAAAAGAGGAGGACCAGAAACCATTAACTTCATCGAATCCAGTGTTAGAACTTGAACTGGCAGAGGAAAAATTACCTATGACGCTTTCTAGGCAAGAG___GTCATC)AGAAGATTGAGAGAAAGAGGAGAACCAATCAGACTATTTGGAGAcACTGATTATGATGCTTTTCAACGTTTAAGGAAAATAGAGATCCTCACACCAGAAGTTAACAAG|GTTAGGTCAGCAGACGTCTGAAACAAATACGATTGCAAGGGTGAAAGTGACATGATTTACTTAAATCAGGCAATTTCTCCATGAAAGCATTGAAGCCTCAACTCATAAAGACACTCTTCAGCAGATGAGCTGTAAGGTTGTCCAGCATTTGTCATATTAGGTGATTTGAAAG MDILKSEILRKRQLVEDRNLLVENKKYFKRSELAKKEEEAYFERCGYKIQPKEEDQKPLTSSNPVLELELAEEKLPMTLSRQEVIRRLRERGEPIRLFGdTDYDAFQRLRKIEILTPEVNK|vrsadv* 09BR004 ENSG00000144320.14 ENSG00000230391.1 -/- +/- chr2:175970764 chr2:115470175 CDS/splice-site exon deletion/5'-5' 1 3 0 70 19 high out-of-frame . . . . ENSG00000144320.14 ENSG00000230391.1 ENST00000544803.5 . upstream downstream . ^(TTTCATGGGAAGGAGTTGGCCCGGCTTGTCTCTCTGTCAGTGGCGGCTGCTGCCTGCTCTGGAGGCAGGCTGGGCGGTGGCGGCCGAGACTGGCGGGGGTGGACGCCCGGGCCGGGCTGCGCCCGCTTCTTGCAG___CTGTGAATTCCTTTGGACAATTGATGATATTTATCATTGTGCCCAGTTTCTACAAATAAAAGATGGGTGGATTATTTTCTCGATGGAGG___ACAAAACCTTCAACTGTAGAAGTTCTAGAAAGTATAGATAAG___GAAATTCAAGCATTGGAAGAATTTAGGGAAAAAAATCAGAGATTACAAAAATTATGGGTTGGAAGATTAATTCTGTATTCCTCAGTTCTCTATCTGTTTACAT)GCTTAATTGTATATTTGTGGTATCTTCCTGATGAATTTACAGCAAGACTTGCCATGACACTCCCATTTTTTaCTTTTCCATTGAT___CATCTGGAGCATAAGAACAGTAATTATTTTCTTCTTTTCCAAGAGAACAGAAAGAAATA___ATGAAGCATTGGATGATTTAAAATCCCAGAGGAAAAAAATA|ATATCCGAGTTGAACATTCTTGCTTTAGAAGAGGGCAATTCATAG___ATGTACTGATCCATTTAGAAGTCAAGGTTGGTGCCACCTAAGTGGGTTCCTGCTGTAAGAAACTTGAGGACATCCTCTACCTTCATTTTCAAGACATCGCAGGTTCCAG MGGLFSRWRTKPSTVEVLESIDKEIQALEEFREKNQRLQKLWVGRLILYSSVLYLFTCLIVYLWYLPDEFTARLAMTLPFFtFPLIIWSIRTVIIFFFSKRTERNNEALDDLKSQRKKI|iselnilaleegns* 09BR004 ENSG00000255209.1(109261),ENSG00000279295.1(245244) ENSG00000288530.1 ./- -/- chr11:79721561 chr12:71583562 intergenic exon/splice-site translocation 2 2 0 81 131 high . . . . . . ENSG00000288530.1 . ENST00000546601.1 upstream downstream . GATAAACAGTATTGCTGCTCTGAAGACAGCTTGAGTAACACTGTTCTTGGACATTGATGGGCTTGTCTAATTAAG___ATCAATGTTCAATGGAGCTTGGATTTGTCATGGGTCTCTGGTGACAAACATTGGTCATATTG|GATGCCAAGAGATAATGGTCAAAAACAGCCTAATAACACACAGTGCCCATGTGCATGCTCCACTATCTCAAGCCACTGTCACCCTGGATCTTCTGCAGCACTGGCTGG(___AATCAGTGGTGGATACTGCCGTTGAGGAATTTTTGATGCCTTTCTCACCTGGGGAAGGTGAACACTGCACTGAATGAAGGGCTTTCAGGTCTTCCTCAAAGTCAAGCAGGAAATCTTCAAGGTCACGTTCATCTGCAGCACAAGAAGTCCTGGAATGATTAGTTCTGACTCTCTTTTCAAGGGACCAAATCCCAGAGTGGAGAGTCCTGGGTTATTCTGGAGACATGAACTGTCACAAATTCCTTGTGCTCTAGCTTTCTTGCAAGTTATTATAAAGTTGCCTTTGGATGTTTGA)$ . 09BR004 ENSG00000287045.1 ENSG00000115970.18 -/- -/- chr3:142723830 chr2:43279896 exon/splice-site CDS/splice-site translocation 2 1 0 4 51 high . . . . . ENSG00000287045.1 ENSG00000115970.18 ENST00000664914.1 ENST00000405975.6 upstream downstream . ^GAGGAAGACTTCGCTCAATCGTCCCTTTCCACACCCAGGGTACTGGTTTAAG|AGTTGCAGGATACACTTGCTCTCTGGAAGTGTGTCCTTACCCTTCTGCAGAGTGAGGAGCAAGCTGTTAGAGATGCAGCCACGGAAACCGTGACAACTGCCATGTCACAAGAAAATACCTGCCAGTCAACAG___AGTTTGCCTTCTGCCAGGTGGATGCCTCCATCGCTCTGGCCCTGGCCCTGGCCGTCCTG(TGTGATCTGCTCCAGCAGTGGGACCAGTTGGCCCCTGGACTGCCCATCCTGCTGGGATGGCTGTTGGGAGAGAGTGATGACCTCGTGGCCTGTGTGGAGAGCATGCATCAG___GTGGAAGAAGACTACCTGTTTGAAAAAGCAGAAGTCAACTTTTGGGCCGAGACCCTGATCTTTGTGAAATACCTCTGCAAGCACCTCTTCTGTCTCCTCTCAAAGTCCGGCTGGCGTCCCCCAAGCCCTGAGATGCTCTGTCACCTTCAAAGGATGGTGTCAGAGCAGTGCCACCTCCTGTCTCAGTTCTTCAGAGAGCTTCCACCAGCTGCTGAGTTTGTGAAGACAGTGGAGTTCACAAGACTACGCATTCAAGAGGAAAGGACTTTGGCTTGCTTGAGGCTGCTGGCCTTTTTGGAAGGAAAGGAAGGGGAAGACACCCTAGTTCTCAGTGTTTGGGACTCTTATGCAGAATCGAGGCAGTTAACTCTTCCAAGAACAGAAGCGGCATGTTGAAGAAAATCTGGGGGATTGGGATGGGGGTATGTGTGGATTTTTCCTCCACTAAATCTGCAGGAAACATGTTGAACATAAATTCAAAAATTTTATCCCATTCATGCCTCCCCTA)$ . 09BR004 ENSG00000128268.12 ENSG00000176177.10 +/+ -/+ chr22:39457557 chr22:39860366 5'UTR/splice-site intron deletion/5'-5' 1 2 0 13 13 high . . . . . ENSG00000128268.12 ENSG00000176177.10 ENST00000341184.7 . downstream upstream . ^(ACTCACACACACTCGCTCGCACACGCACACACTCGATCCAGCACGCGCGGGCGGCGCGGGGCGGCGGCGGCCGGAGTCTGCGGTGCGAGGCGCCCCCGGCCCGGCGCGGCGGCGGAGCCCGGCTGGCGGGGGAGGGGAGGGGGTTGCGGAGGGGGCGGGGTGGGGGCCGGAGCCGCTTGAGCCGGCGGGAGCGGGCACCCCTGCGCGCCGCGCTCGGCCTCGCCTCCGCGCCCCCCGCGCGCCCGCCGCGGTCCCTCCCCCGCGCCCGTCCGCTCGCCGGGCCCCCGCCGCCGCCCCGGGGTGCAGCCGAGCGGCCGCGCCGGGTCCCCGGGACGGGGTGGAAGTGGGGGTGGGGGGAGGGGATCGGGGCCGGGCCGGGGCCGCGCTGCCTGCGATGCCGGGCGCCCGCCGCAGCCGCTGCCGCCGGAGC)CCGGGATGGGGCGAGAGGCTGCGGCGGACGCCAGCATCTCCCCGCCGGGGACCCCGGGGGCCGCGGAGCCGCCGCCGCCGCTGCTGCCGCCGTTGCTGAGACCCAGCGGGCGATGG|CATCAGTTTGATTTAAAGGCTCCCATGAGAAAATTTCAGAATGAGTGGCTGTCTCTTTCGGAGATTTATTTCAAAAGAATCAGATCCCCTAAAGATCCCACCACTTTTAGAAGCCG___CATTCCTCCCTTCCAGAGGATGCAGCATCAAGGCGCCATCTTGGAAGCAGAC . 09BR004 ENSG00000137492.8 ENSG00000254434.1(187927),ENSG00000200146.1(12122) -/- ./- chr11:76380748 chr11:80515838 CDS/splice-site intergenic duplication 2 1 0 19 70 high out-of-frame . THAP_domain(100%)| . . ENSG00000137492.8 . ENST00000260045.8 . upstream downstream duplicates(1) ^(GCATTGTGGGAAGGAGGCGGCAGCGTCTCGGGCGGGCGGGAGGTGCACCAGCGGCGGCGGCGGCGGTAAATCCTCCCGGCCGCTCACAGCACTGTGGAGCCGCGTCCCCAGCCCGGCCTCGGACCGCGGCACCCCTCCTGGCCCTCGCGGCTTCTAGCCCGCCCGCCCCTCCCCCGCGCGTCGGCCCTGCCGAGCCGGCCGGCCGGCCTGGCTCCCCTCCCCGGCCCCGACGGGCGGGCGGACTGCCCTGAGGAGGCGGGGAGGGGAGGGCT)GGGCCGGCCGGCGGGCGGGCGACGATGCCGAACTTCTGCGCTGCCCCCAACTGCACGCGGAAGAGCACGCAGTCCGACTTGGCCTTCTTCAGGTTCCCGCGGGACCCTGCCAG|ATAAGTCGACATTTTCACTGGACCGATTGGACTGAAAAGGCAAGATTGAATGAG___GATAAACAGTATTGCTGCTCTGAAGACAGC MPNFCAAPNCTRKSTQSDLAFFRFPRDPAr|* 09BR004 ENSG00000128268.12 ENSG00000100351.17 +/+ +/+ chr22:39457557 chr22:39901268 5'UTR/splice-site 5'UTR deletion 1 1 0 13 11 high . . |SH2_domain(100%),SH3_domain(100%) . . ENSG00000128268.12 ENSG00000100351.17 ENST00000341184.7 ENST00000344138.9 downstream upstream . ^(ACTCACACACACTCGCTCGCACACGCACACACTCGATCCAGCACGCGCGGGCGGCGCGGGGCGGCGGCGGCCGGAGTCTGCGGTGCGAGGCGCCCCCGGCCCGGCGCGGCGGCGGAGCCCGGCTGGCGGGGGAGGGGAGGGGGTTGCGGAGGGGGCGGGGTGGGGGCCGGAGCCGCTTGAGCCGGCGGGAGCGGGCACCCCTGCGCGCCGCGCTCGGCCTCGCCTCCGCGCCCCCCGCGCGCCCGCCGCGGTCCCTCCCCCGCGCCCGTCCGCTCGCCGGGCCCCCGCCGCCGCCCCGGGGTGCAGCCGAGCGGCCGCGCCGGGTCCCCGGGACGGGGTGGAAGTGGGGGTGGGGGGAGGGGATCGGGGCCGGGCCGGGGCCGCGCTGCCTGCGATGCCGGGCGCCCGCCGCAGCCGCTGCCGCCGGAGCCCGGGATGG)GGCGAGAGGCTGCGGCGGACGCCAGCATCTCCCCGCCGGGGACCCCGGGGGCCGCGGAGCCGCCGCCGCCGCTGCTGCCGCCGTTGCTGAGACCCAGCGGGCGATGG|AAAGGATTCTAATAACTCGGTGTCAAAGCCAAGACATAAACTCAACCCCTTCTCTTCCAAAAG___CTTCACGTTACAGCATGGAAGCTGTTGCCAAGTTTGATTTCAC(TGCTTCAGGTGAGGATGAACTGAGCTTTCACACTGGAGATGTTTTGAAG___ATTTTAAGTAACCAAGAGGAGTGGTTTAAGGCGGAGCTTGGGAGCCAGGAAGGATATGTGCCCAAGAATTTCATAGACATCCAGTTTCCCAA___ATGGTTTCACGAAGGCCTCTCTCGACACCAGGCAGAGAACTTACTCATGGGCAAGGAGGTTGGCTTCTTCATCATCCGGGCCAGCCAGAGCTCCCCAGGGGACTTCTCCATCTCTGTCAG___GCATGAGGATGACGTTCAACACTTCAAGGTCATGCGAGACAACAAGGGTAATTACTTTCTGTGGACTGAGAAGTTTCCATCCCTAAATAAGCTGGTAGACTACTACAGGACAAATTCCATCTCCAGACAGAAGCAGATCTTCCTTAGAGACAGAACCCGAGAAGACCAG___GGTCACCGGGGCAACAGCCTGGACCGGAGGTCCCAGGGAGGCCCACACCTCAGTGGGGCTGTGGGAGAAGAAATCCGACCTTCGATGAACCGGAAGCTGTCGGATCACCCCCCGACCCTTCCCCTGCAGCAGCACCAGCACCAGCCACAGCCTCCGCAATATGCCCCAGCGCCCCAGCAGCTGCAGCAGCCCCCACAGCAGCGATATCTGCAGCACCACCATTTCCACCAG___GAACGCCGAGGAGGCAGCCTTGACATAAATGATGGGCATTGTGGCACCGGCTTGGGCAGTGAAATGAATGCGGCCCTCATGCATCGGAGACACACAGACCCAGTGCAGCTCCAGGCGGCAGGG___CGAGTGCGGTGGGCCCGGGCGCTGTATGACTTTGAGGCCCTGGAGGATGACGAGCTGGGGTTCCACAGCGGGGAGGTGGTGGAGGTCCTGGATAGCTCCAACCCATCCTGGTGGACCGGCCGCCTGCACAACAAGCTGGGCCTCTTCCCTGCCAACTACGTGGCACCCATGACCCGATAAACTCTTCAGGGGACAGAAGCTTTTTGTCTGGAGCTGCCCACAAGAAAGAGGGCAAGGAAAAAAGGCTGGACTCCATGACTATATATACATACATCTATCTACATCTGCCTGTGTACACACACAACTTTTTATACTAGTAATTTATTGGCAATTGGGCTGGTAATTAGTTGATGCAAAAGGGAACTCAGGTGGAGAATAATATTGACACTTGCTTTTCTGCCCCCCTCAGGGGTGTGTGGAAGGCAGTGGGGGAGTTGGGAGGGGGGCAGGGAAATGAAATGGAGTTTTGTCCTGGCCTTCAGCTGTCACTGCTTCCTCCTTGTCTTGGGAATTTTCACGGAGAACAGCTAAGCAGAGACCACACCTCGGCACTGGACACAGAACAACAGGGTGGGGTTGAACTTGGTGGGGCACGTTCTAGCTGACCTGCAAGCCCCGCTCACCTGGAGGGCTTGCAGAGCAGCTCTCCTCCTGTTCTCCAAGGGGTGGGCACTGTTGCATTAGGAATTAAGGTGCAGCCCAGTGCTGCGGGCAGCCAAGCGAGTCTGAGCGGGGATGTGAAGGCAGGACGGGGTTGGAGAGACCCTGCCTGTGCAAGGCTGGCCTCCTAGTCAACACCTAGCTGAGACATTCATCTCTGTTCAAATTAATATTCCTTGGGTCTTTCAAATGAATGTTTCAATGTGAGGAGCGAAGTACTGGGAAATCGAGGGATTTTCCACAATCCCCAAGCAGCTTACTCAGTGGAACCTCTGTTTCCCCAGCTATGAAGGAAATAGCATCCTACATTCCGTAAAGTGCTTGAAGAAGCTCTAGCTGAGAATGCTGAATTTTACAGTCATTGTTTTATGGTTACAAGGGTATGTCTTCAGGGCTCTGTTCATTTTCCCTCTTGATTTTCTCTTTTGAAGATGCCTTGCCCAGTGGCATGGAAAGAAGCCCACTTGATGATAGGAGCCTGACTATGAATTGATTGACTAAACATGACCCCAGGTGGAAGCTGGCTTTGACACCAGCTTCCTGTTCAGTCTGACCACTGCTGTCCTCCTGCTGCCCAAGAGTTGCACCTGGAGCAAGGAACCCCACCATGGCTGTCGCTCTCCATCCCATCACGCTAGAATCATGTGTCCAAGGGCTCACTCTGGAGGTGCACAGCACAGGTCAGCCTGGCCAGGGGCGAAGGAGACAGTAGAGAGGAAGCTCAGGGCCTTAGGGGAGGCCGGGTGCAAACCCGTTCTGCACCAAGTGCACTCGGAGTTTGTGGGTATGGGTGTGTACCCCTGCAGGTGTGCACATGTGTGCTTGCACGCACATATTTGTGCACTCCTGTGTGTATACATGTGTGCTTGTGTATGCATATGTGTGCATTCCTGCATGTGTGGACATGTGCGTGCATGCATCTGTGTGTCTGTGTGTGTGCTGAGACAGGAAAGGGGGTGAAAGTGTTGGTGAGGGAGCCTGGAAGTTTTCTCTTCCCCAACCTCTCTTGCTCTAAGGAGGGATGGGGTTGGGGGCAGCCGTTATTGAAGGTGATCGGAGAAGAAAGATTTTCTGACTCAGAAGTGACTGCCAGTGTAGCACAAGCAGTGTCCCTTGTGACTGTGATTCTACAGTTCTCTGATCCTCATGTTTCCTTTAGAGGAAAGAGGAAAAAAGGAACTCTGTGGTGGGTATTGGGAGGGAAAAGAAAATAGCCTGGTGGAGGCAGGAGGGAGTCGAGTGTGAGTAAGGAGCACCTGCAGCTTTTGGAAGTGAAAGCAGAGAGAGGGAAAGGTAGCTAAGACATCCAGGAGGATCAAGGGGCAGCGTGAGAGGCACAGGGGGAGGAAAGGGAGAGGGTGAGTGGGGCCAGGGAAGAGAACGGTGTGGAGTTGGTGGGCAGATGGTGCAGGAGGAGGGCTGGGCAGTGGGGAGAGGAAGAATCAGAGCAGAGAAACCGCTGCTGCGGAAGGCAGGGAGCAAAGAAGCATAAGGAAAAGAACAGGAGAAAGAACAAAGGCAGAGAAGACCTCCTCAGCTATTTTGGTGCTAGGTAATGTGAAATGCTGCAGTAAATAAAAGCCATAAGTAATGTTTGATTTTACAGTATTTACAAACCATATGCTTTAAACAGCCCACAAACTCCATCCAGTTGTCTGATGATGTGGGAGGACCAGCTCTAGTTAGACGGAGGTATGTGATTCGATTCTGGTGGAGACTTTGTGCCTTGAAAGGCTTCTCAGGAAAGCAGTAATAAAACAAAGTGTCCTTGTTTGGCCAGGCCGTGTCTGGTGTCTGCGTTGCATACCCCTCAGGTAGAGAGTGAGAACGAGACCAGGGGGTGACAGGGGTCATCGGCCTGCAGGAGCTGACCCCGTAGGCAGGCGGTATGAGCAGAGCTTTCAGAACCCCTGGAGCTCGGTGTTCTGTTGTAGCAAAAGCTACTGAAGAGTATTTTGTACTGAGATGCCAAAGCATCTTTCCCTTGCTCATCAGCCTCCATTCAGAAGGAAGCGGGAAAGTCACCCAAACCACCTACAAGGAATGAGGGCTCTTAGCGGCCAGGTAAAGAGGACAAGAACCAAACTGTCCACATTATGGAGGGGAGGGGGAAAGAGAGCTCAACCCCCCTCAGCCTCTGGTGCTGCCAGGGGGAGC)$ . 09BR004 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 7 12 0 217 42 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream low_entropy(1),mismatches(1) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCATCGACAGGGAAAACTTCGTGGACATTGTTGATGCCAAG___TTGAAGATTCCTGTCTCTGGATCCAAATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGGCCCCTTTCAGAG___GTGGCACCTTGACGAGGTCTT)TTTAGAGCTCAAGGATGGTCAGCAGATTCCTGTGTTCAAGCTCAGTGGGGAAAACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCATAGTGGACCTTTATTGTCTCCTGAGCACCCATTCTTTGTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCTCTTCCTCCAGAGTTGGAGCCTATGACACTGATGACACTGGCATGGAAAGCCAAAGCCCTACAC . 09BR004 ENSG00000136527.18 ENSG00000073792.16 -/- -/- chr3:185922011 chr3:185698347 CDS/splice-site CDS/splice-site deletion/read-through 4 13 1 1509 1029 medium stop-codon . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)|KH_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%) . . ENSG00000136527.18 ENSG00000073792.16 ENST00000453386.7 ENST00000382199.7 upstream downstream . ^(AGAGCCCGTGCGGAGGCGGTGCGGAGCATTTCGGCTCTGAGCGGCTGGGCGACCGGCGCGTCGTGCGGGGCTGCGGCGGAGCCTCCTTAAGGAAGGTGCAAGAGGTTGGCAGCTTCGATTGAAGCACATCGACCGGCGACAGCAGCCAGGAGTCATGAGCGACAGCGGCGAGCAGAACTACGGCGAGCGG___GAATCCCGTTCTGCTTCCAGAAGTGGAAGTGCTCACGGATCGGGGAAATCTGCAAGGCATACCCCTGCAAGGTCTCGCTCCAAGGAAGATTCCAGGCGTTCCAGATCAAAGTCCAGGTCCCGATCTGAATCTAG___GTCTAGATCCAGAAGAAGCTCCCGAAGGCATTATACCCGGTCACGGTCTCGCTCCCGCTCCCATAGACGATCACGTAGCAGGTCTTACAGTCGAGATTATCGTAGACGGCACAGCCACAGCCATTCTCCCATGTCTACTCGCAGGCGTCATGTTGGGAATCGG___GCAAATCCTGATCCTAACTGTTGTCTTGGAGTATTTGGGCTGAGCTTGTACACCACAGAAAGAGATCTAAGAGAAGTGTTCTCTAAATATG)GTCCCATTGCCGATGTGTCTATTGTATATGACCcGCAGTCTAGGCGTTCAAGAGGATTTGCCTTTGTATATTTTGAAAATGTAGATGATGCCAAGGAA___GCTAAAGAACGTGCCAATGGAATGGAGCTTGATGGGCGTAGGATCAGAGTTGATTTCTCTATAACAAAAAGACCACATACGCCAACACCAGGAATTTACATGGGGAGACCTACCTA|GAGCAGGAAAATTCAGATTCGAAACATCCCTCCTCACCTGCAGTGGGAG___GTGTTGGATGGACTTTTGGCTCAATATGGGACAGTGGAGAATGTGGAACAAG___TCAACACAGACACAGAAACCGCCGTTGTCAACGTCACATATGCAACAAGAGAAGAAGCAAAAAT___AGCCATGGAGAAGCTAAGCGGGCATCAGTTTGAGAACTACTCCTTCAAGATTTCCTACATCCCGGATGAAGAGGTGAGCTCCCCTTCGCCCCCTCAGCGAGCCCAGCGTGGGGACCACTCTTCCCGGGAGCAAGGCCACGCCCCTGGGGGCACTTCTCAGGCC(AGACAGATTGATTTCCCGCTGCGGATCCTGGTCCCCACCCAGTTTGTTGGTGCCATCATCGGAAAGGAGGGCTTGACCATAAAGAACATCACTAAGCAGACCCAGTCCCG___GGTAGATATCCATAGAAAAGAGAACTCTGGAGCTGCAGAGAAGCCTGTCACCATCCATGCCACCCCAGAGGGGACTTCTGAAGCATGCCGCATGATTCTTGAAATCATGCAGAAAGAGGCAGATGAGACCAAACT___AGCCGAAGAGATTCCTCTGAAAATCTTGGCACACAATGGCTTGGTTGGAAGACTGATTGGAAAAGAAGGCAGAAATTTGAAGAAAATTGAACATGAAACAGGGACCAAGATAACAATCTCATC___TTTGCAGGATTTGAGCATATACAACCCGGAAAGAACCATCACTGTGAAGGGCACAGTTGAGGCCTGTGCCAGTGCTGAGATAGAGATTATGAAGAAGCTGCGTGAGGCCTTTGAAAATGATATGCTGGCTGTTAAC___CAACAAGCCAATCTGATCCCAGGGTTGAACCTCAGCGCACTTGGCATCTTTTCAACAGGACTGTCCGTGCTATCTCCACCAGCAGGGCCCCGCGGAGCTCCCCCCGCTGCCCCCTACCACCCCTTCACT___ACCCACTCCGGATACTTCTCCAGCCTGTACCCCCATCACCAGTTTGGCCCGTTCCCGCATCATCACTCT___TATCCAGAGCAGGAGATTGTGAATCTCTTCATCCCAACCCAGGCTGTGGGCGCCATCATCGGGAAGAAGGGGGCACACATCAAACAGCTGGCGAGATTCGCCGGAGCCTCTATCAAG___ATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAG___GCCCAGGGACGGATCTTTGGGAAACTGAAAGAGGAAAACTTCTTTAACCCCAAAGAAGAAGTGAAGCTGGAAGCGCATATCAGAGTGCCCTCTTCCACAGCTGGCCGGGTGATTGGCAAAGGTGGCAAGACC___GTGAACGAACTGCAGAACTTAACCAGTGCAGAAGTCATCGTGCCTCGTGACCAAACGCCAGATGAAAATGAGGAAGTGATCGTCAGAATTATCGGGCACTTCTTTGCTAGCCAG___ACTGCACAGCGCAAGATCAGGGAAATTGTACAACAGGTGAAGCAGCAGGAGCAGAAATACCCTCAGGGAGTCGCCTCACAGCGCAGCAAGTGAGGCTCCCACAGGCACCAGCAAAACAACGGATGAATGTAGCCCTTCCAACACCTGACAGAATGAGACCAAACGCAGCCAGCCAGATCGGGAGCAAACCAAAGACCATCTGAGGAATGAGAAGTCTGCGGAGGCGGCCAGGGACTCTGCCGAGGCCCTGAGAACCCCAGGGGCCGAGGAGGGGCGGGGAAGGTCAGCCAGGTTTGCCAGAACCACCGAGCCCCGCCTCCCGCCCCCCAGGGCTTCTGCAGGCTTCAGCCATCCACTTCACCATCCACTCGGATCTCTCCTGAACTCCCACGACGCTATCCCTTTTAGTTGAACTAACATAGGTGAACGTGTTCAAAGCCAAGCAAAATGCACACCCTTTTTCTGTGGCAAATCGTCTCTGTACATGTGTGTACATATTAGAAAGGGAAGATGTTAAGATATGTGGCCTGTGGGTTACACAGGGTGCCTGCAGCGGTAATATATTTTAGAAATAATATATCAAATAACTCAACTAACTCCAATTTTTAATCAATTATTAATTTTTTTTTCTTTTTAAAGAGAAAGCAGGCTTTTCTAGACTTTAAAGAATAAAGTCTTTGGGAGGTCTCACGGTGTAGAGAGGAGCTTTGAGGCCACCCGCACAAAATTCACCCAGAGGGAAATCTCGTCGGAAGGACACTCACGGCAGTTCTGGATCACCTGTGTATGTCAACAGAAGGGATACCGTCTCCTTGAAGAGGAAACTCTGTCACTCCTCATGCCTGTCTAGCTCATACACCCATTTCTCTTTGCTTCACAGGTTTTAAACTGGTTTTTTGCATACTGCTATATAATTCTCTGTCTCTCTCTGTTTATCTCTCCCCTCCCTCCCCTCCCCTTCTTCTCCATCTCCATTCTTTTGAATTTCCTCATCCCTCCATCTCAATCCCGTATCTACGCACCCCCCCCCCCCCAGGCAAAGCAGTGCTCTGAGTATCACATCACACAAAAGGAACAAAAGCGAAACACACAAACCAGCCTCAACTTACACTTGGTTACTCAAAAGAACAAGAGTCAATGGTACTTGTCCTAGCGTTTTGGAAGAGGAAAACAGGAACCCACCAAACCAACCAATCAACCAAACAAAGAAAAAATTCCACAATGAAAGAATGTATTTTGTCTTTTTGCATTTTGGTGTATAAGCCATCAATATTCAGCAAAATGATTCCTTTCTTTAAAAAAAAAAAATGTGGAGGAAAGTAGAAATTTACCAAGGTTGTTGGCCCAGGGCGTTAAATTCACAGATTTTTTTAACGAGAAAAACACACAGAAGAAGCTACCTCAGGTGTTTTTACCTCAGCACCTTGCTCTTGTGTTTCCCTTAGAGATTTTGTAAAGCTGATAGTTGGAGCATTTTTTTATTTTTTTAATAAAAATGAGTTGGAAAAAAAATAAGATATCAACTGCCAGCCTGGAGAAGGTGACAGTCCAAGTGTGCAACAGCTGTTCTGAATTGTCTTCCGCTAGCCAAGAACCTATATGGCCTTCTTTTGGACAAACCTTGAAAATGTTTATTTAAAAAAAAAAAAGATGACAAAGAAAAACAGAGAGAGAGAATATTGGAGATGTCCTGAATTTTAATAGGGTACGCGCCATTAGGGCTTTTTGCGCTAAAGGATGAACATGTACTGGTTTATGTGGACAAGCCATTATACCACCAGACTGCAATGCCAGTTTCCTCTACTGCAAACAGTGTTCTGTGACAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAACAGAAATATATCCAGCTAACAAGATCCTGGTGTCTTGGTGTTTTATTTTACTAGGCATTGCCTCATCCCAGGTGTCAGCTGAGTCCTAGCTCTGAGGGACCTGGGCAGACAGGCGGTAGGTGTGACCTGGATCCACACAGCTACTCTGAGAAAGCTGGTTTTGCCCAGGAAAGTCTTTGGGAGAAGCTAAACTAGATCGGTGGTCAAAGTGTAGTCCCCAGACCAGCAGCATCAGCTATCATCTGGGAACTTGTTAGAAATGTAGATTCTTGGGGTCCACCTTGAATCAGAAATCCTGGGGGTGAGGCCCAGCAACCTTTTCAGCAAGGCCTCTGGGTGATTGCTGTGCGCACTGAAGTTTCCGAACCTCGGAGCTAGAGGGATGGATCGACTGCATGTCAAGCTAGAGAAGACCAGTCTATCCTTAAGGAACTGCAAGCCTGGCCAGGCAAAGCTGCTTTTTAAGTGGAGGAAAGGGGGAGGATAATATGCCCGGCAGTTCCGGGAAGAGGCACTTCACGCCTCCACGGGAAGCTCACTAGTAAGTGCAGGCATACCTCAGGAACGTCGCAGGTTCAGTTCCAGACCACCACAGTAAAGCGAACTTTGCAATAAAATGAGTCATACACGTTT)$ . 09BR004 ENSG00000169783.12(38844),ENSG00000280359.1(49618) ENSG00000169783.12 ./- -/- chr15:77734992 chr15:77690901 intergenic 5'UTR/splice-site deletion/read-through 3 6 1 45 50 medium . . |Immunoglobulin_I-set_domain(100%),Leucine_rich_repeat(100%) . . . ENSG00000169783.12 . ENST00000561030.5 upstream downstream mismatches(2) AGCGGGGAGAACGAGGACCGGGCTGGGCAG___...CGACGACTTGCA...___CCTCCGGCACCCACAGGCCCTGAGGCTCCAGTGCCCACAGGCAGAGAGGGCGACTGAGTCCAGCCCAGGCTGAGCCCTGCCCAGCTGTACTCCCCAGACACCCACCCAACCCGAG___GTGTCCCACCGAGGAGGCCCTGATCTTGAGCCCGGAGCCCTGAGCCCTGAGACGATGCTTGA|GGATCTTATGACCATGACCTGGCTACCTTGAGTCTGTGGGGCTACACAGCCTTCAGCCTGCATCTCCAGGGCTCTGACTCTATCCAGCTCCTGGACCAGCTCCCAAGTCTACTCCTGACCCCAGCCTGGGCCAAGGGGACTTCTCAAGCTTTGGGACCCAGCAGGACACAGCAGCAGTCAGG___TGCATGCTGGGACCGCGACGGACAGGCTGCCGCACCCCAGGCCCCCAGAGGCCAGTCTGTTTGCCTCCCAACG(CCATCTGACCCAG___GTGAGCAAGAGGATGCTGGCGGGGGGCGTGAGGAGCATGCCCAGCCCCCTCCTGGCCTGCTGGCAGCCCATCCTCCTGCTGGTGCTGGGCTCAGTGCTGTCAGGCTCGGCCACGGGCTGCCCGCCCCGCTGCGAGTGCTCCGCCCAGGACCGCGCTGTGCTGTGCCACCGCAAGCGCTTTGTGGCAGTCCCCGAGGGCATCCCCACCGAGACGCGCCTGCTGGACCTAGGCAAGAACCGCATCAAAACGCTCAACCAGGACGAGTTCGCCAGCTTCCCGCACCTGGAGGAGCTGGAGCTCAACGAGAACATCGTGAGCGCCGTGGAGCCCGGCGCCTTCAACAACCTCTTCAACCTCCGGACGCTGGGTCTCCGCAGCAACCGCCTGAAGCTCATCCCGCTAGGCGTCTTCACTGGCCTCAGCAACCTGACCAAGCTGGACATCAGCGAGAACAAGATCGTTATCCTACTGGACTACATGTTTCAGGACCTGTACAACCTCAAGTCACTGGAGGTTGGCGACAATGACCTCGTCTACATCTCTCACCGCGCCTTCAGCGGCCTCAACAGCCTGGAGCAGCTGACGCTGGAGAAATGCAACCTGACCTCCATCCCCACCGAGGCGCTGTCCCACCTGCACGGCCTCATCGTCCTGAGGCTCCGGCACCTCAACATCAATGCCATCCGGGACTACTCCTTCAAGAGGCTGTACCGACTCAAGGTCTTGGAGATCTCCCACTGGCCCTACTTGGACACCATGACACCCAACTGCCTCTACGGCCTCAACCTGACGTCCCTGTCCATCACACACTGCAATCTGACCGCTGTGCCCTACCTGGCCGTCCGCCACCTAGTCTATCTCCGCTTCCTCAACCTCTCCTACAACCCCATCAGCACCATTGAGGGCTCCATGTTGCATGAGCTGCTCCGGCTGCAGGAGATCCAGCTGGTGGGCGGGCAGCTGGCCGTGGTGGAGCCCTATGCCTTCCGCGGCCTCAACTACCTGCGCGTGCTCAATGTCTCTGGCAACCAGCTGACCACACTGGAGGAATCAGTCTTCCACTCGGTGGGCAACCTGGAGACACTCATCCTGGACTCCAACCCGCTGGCCTGCGACTGTCGGCTCCTGTGGGTGTTCCGGCGCCGCTGGCGGCTCAACTTCAACCGGCAGCAGCCCACGTGCGCCACGCCCGAGTTTGTCCAGGGCAAGGAGTTCAAGGACTTCCCTGATGTGCTACTGCCCAACTACTTCACCTGCCGCCGCGCCCGCATCCGGGACCGCAAGGCCCAGCAGGTGTTTGTGGACGAGGGCCACACGGTGCAGTTTGTGTGCCGGGCCGATGGCGACCCGCCGCCCGCCATCCTCTGGCTCTCACCCCGAAAGCACCTGGTCTCAGCCAAGAGCAATGGGCGGCTCACAGTCTTCCCTGATGGCACGCTGGAGGTGCGCTACGCCCAGGTACAGGACAACGGCACGTACCTGTGCATCGCGGCCAACGCGGGCGGCAACGACTCCATGCCCGCCCACCTGCATGTGCGCAGCTACTCGCCCGACTGGCCCCATCAGCCCAACAAGACCTTCGCTTTCATCTCCAACCAGCCGGGCGAGGGAGAGGCCAACAGCACCCGCGCCACTGTGCCTTTCCCCTTCGACATCAAGACCCTCATCATCGCCACCACCATGGGCTTCATCTCTTTCCTGGGCGTCGTCCTCTTCTGCCTGGTGCTGCTGTTTCTCTGGAGCCGGGGCAAGGGCAACACAAAGCACAACATCGAGATCGAGTATGTGCCCCGAAAGTCGGACGCAGGCATCAGCTCCGCCGACGCGCCCCGCAAGTTCAACATGAAGATGATATGAGGCCGGGGCGGGGGGCAGGGACCCCCGGGCGGCCGGGCAGGGGAAGGGGCCTGGCCGCCACCTGCTCACTCTCCAGTCCTTCCCACCTCCTCCCTACCCTTCTACACACGTTCTCTTTCTCCCTCCCGCCTCCGTCCCCTGCTGCCCCCCGCCAGCCCTCACCACCTGCCCTCCTTCTACCAGGACCTCAGAAGCCCAGACCTGGGGACCCCACCTACACAGGGGCATTGACAGACTGGAGTTGAAAGCCGACGAACCGACACGCGGCAGAGTCAATAATTCAATAAAAAAGTTACGAACTTTCTCTGTAACTTGGGTTTCAATAATTATGGATTTTTATGAAAACTTGAAATAATAAAAAGAGAAAAAAACTA)$ . 09BR004 ENSG00000255209.1(109261),ENSG00000279295.1(245244) ENSG00000139292.13 ./- +/- chr11:79721561 chr12:71583896 intergenic CDS translocation 5 4 0 81 624 medium . . . . . . ENSG00000139292.13 . . upstream downstream . AGACAGCTTGAGTAACACTGTTCTTGGACATTGATGGGCTTGTCTAATTAAG___ATCAATGTTCAATGGAGCTTGGATTTGTCATGGGTCTCTGGTGACAAACATTGGTCATATTG|GCACCATGTCGTGCAAAGCTGCCAAAAGTGAACGCATCCACACCAGCCAGCACGGCACTGGAGACTCCCGTGAGCATGTTCACTGCTGCGATGACCCCAATTAACAGTTTAATGGGGGAAATGTACAGAGGGGATCTGAAAACTGTTGAAG . 09BR004 ENSG00000073792.16 ENSG00000073792.16 -/- -/+ chr3:185823153 chr3:185755842 CDS/splice-site intron inversion/5'-5' 7 1 0 969 52 medium out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000073792.16 ENSG00000073792.16 ENST00000382199.7 . upstream upstream low_entropy(1) ^(GAGGAGAGACGAGGGCAGCGGAGGAGGCGAGGAGCGCCGGGTACCGGGCCGGGGGAGCCGCGGGCTCTCGGGGAAGAGA)CGGATGATGAACAAGCTTTACATCGGGAACCTGAGCCCCGCCGTCACCGCCGACGACCTCCGGCAGCTCTTTGGGGACAGGAAGCTGCCCCTGGCGGGACAGGTCCTGCTGAAGTCCGGCTACGCCTTCGTGGACTACCCCGACCAGAACTGGGCCATCCGCGCCATCGAGACCCTCTCGG___GTAAAGTGGAATTGCATGGGAAAATCATGGAAGTTGATTACTCAGTCTCTAAAAAGCTAAG|GTTCAGAGGCAGAAGGAAATCGGCTGTGAGTCTCAGATGAGATTTCGGACTTTGAGTTGATGCTAGAACAAGCGTTTTGGAGACTATTGGGAAGGGATGATTGTATTTTGCAATGTGAGAAGGACATGAGATTGGAG MMNKLYIGNLSPAVTADDLRQLFGDRKLPLAGQVLLKSGYAFVDYPDQNWAIRAIETLSGKVELHGKIMEVDYSVSKKLr|frgrrksavslr* 09BR004 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51878389 chr19:51855967 CDS/splice-site intergenic deletion/read-through 2 3 0 77 57 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGC)AGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAGACCATCAGCCTTCAACCACCACCCTTGTATCAGAGGAGACAAATAAGCTTGGAAATCCTCAAAAAtCCTCATCCTCAGAGCAAT...GCACTGGTCAAAAACGATCAGCTTCAATTGTTTAACTTTGTAGTAGCCTAAGCCTGCAGTACCGTTAGGGAGCAAACAAGAGCTCTGAAAAATTGTTAAACGGACATCTGAAGAACAAGATGTTAATAGGGAACTCTTAAATACTCTGAC MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSI|dlhyrwktaasepq* 09BR004 ENSG00000057608.17 ENSG00000237470.3 -/- -/- chr10:5813214 chr10:15021863 CDS/splice-site exon duplication 1 4 0 860 48 medium out-of-frame . GDP_dissociation_inhibitor(100%)| . . ENSG00000057608.17 ENSG00000237470.3 ENST00000380191.9 ENST00000454630.1 upstream downstream . ^(AGTTCTTCTCTTCCCGTCTGAGGTGGCGGTCGGTCTCGCCTTGTCGCCAGCTCCATTTTCCTCTCTTTCTCTTCCCCTTTCCTTCGCGCCCAAGAGCGCCTCCCAGCCTCGTAGGGT)GGTCACGGAGCCCCTGCGCCTTTTCCTTGCTCGGGTCCTGCGTCCGCGCCTGCCCCGCCATGAATGAGGAGTACGACGTGATCGTGCTGGGCACCGGCCTGACG|ATATCTATTGAAATCGAGGCTCCTACCCAGATATCTTTAGTGGATGAAGCATCAGGAGAG___GTTTTTATTTCAGGGCAATAATGGAACTATCTTGTACACAGGGGACTTCAGATTGGTGCAAGGAGAAGCTGCTAGAATGGAGCTTTTGCACTCCGGGG(GCAG___ACATCCAAAGTGTATATTTAGATACTATGTTGTGTGATCCAAGATTTTACCAAATTCCAAGTCAG___GAGGAGTGTTTATGTGGAGTCTTAGAGCTGGTTCAAAGCTGGATCACTCAGAGCCTGTACCATGTTGTGTGGCTGAACTGCAAAGCGGCTTATGGCTATGAATATTTGTTCACCAACCTTAGTGAAGAATTAGGAGTCCAG___ATTCATGTCAATAAGCTAGACATGTTTAGGAACATGCCTGAGATCCTTCATCATCTCACAACAGACCGCAACACTCAGATCCATGCATGGTGGCACCCCAAG)$ MNEEYDVIVLGTGLT|isieieaptqislvdeasgevfisgq* 09BR004 ENSG00000057608.17 ENSG00000237470.3(2386),ENSG00000152463.15(19694) -/- ./- chr10:5813214 chr10:15024249 CDS/splice-site intergenic duplication 4 1 0 860 18 medium out-of-frame . GDP_dissociation_inhibitor(100%)| . . ENSG00000057608.17 . ENST00000380191.9 . upstream downstream . ^(AGTTCTTCTCTTCCCGTCTGAGGTGGCGGTCGGTCTCGCCTTGTCGCCAGCTCCATTTTCCT)CTCTTTCTCTTCCCCTTTCCTTCGCGCCCAAGAGCGCCTCCCAGCCTCGTAGGGTGGTCACGGAGCCCCTGCGCCTTTTCCTTGCTCGGGTCCTGCGTCCGCGCCTGCCCCGCCATGAATGAGGAGTACGACGTGATCGTGCTGGGCACCGGCCTGACG|TGCTGGTCTCCCGCTTTGGCTCTGAAGCACATGCACCTGCCCCAGGACTCGGAGGAGCTGCACACAGGCACCCAGCAGAAGCTGATGTTGCTGCGGCCCTGCCCCAGACTCTGAGTTAAGCCAGAAGGTCAGCAATGTTCACGAGCTGTT MNEEYDVIVLGTGLT|cwspalalkhmhlpqdseelhtgtqqklmllrpcprl* 09BR004 ENSG00000169783.12(19582),ENSG00000280359.1(68880) ENSG00000169783.12 ./- -/- chr15:77715730 chr15:77690901 intergenic 5'UTR/splice-site deletion/read-through 3 1 0 11 50 medium . . |Immunoglobulin_I-set_domain(100%),Leucine_rich_repeat(100%) . . . ENSG00000169783.12 . ENST00000561030.5 upstream downstream mismappers(1) ACCCAACCCGAG___CTGACCGTGAGACACCAGAGCCGTACCAGCCTCAAACACCTGATGTGCACAGCGTGCCAGTGGAGAGGAGCCCAGCCCCCTTCAGAGCAGCCAGGGACACCTTCCTGGAGGAAGTGGTCCCAGCACTTGTCCTGAGATGAATGGAGAGGAGGGTGGCCCTGGGCACCTGTTGGGGACAGGCAGAAAGGATATTTGGAGAATACTAAGGCCAAGGTGGAG|GGATCTTATGACCATGACCTGGCTACCTTGAGTCTGTGGGGCTACACAGCCTTCAGCCTGCATCTCCAGGGCTCTGACTCTATCCAGCTCCTGGACCAGCTCCCAAGTCTACTCCTGACCCCAGCCTGGGCCAAGGGGACTTCTCAAGCTTTGGGACCCAGCAGGACACAGCAGCAGTCAGG___TGC(ATGCTGGGACCGCGACGGACAGGCTGCCGCACCCCAGGCCCCCAGAGGCCAGTCTGTTTGCCTCCCAACGCCATCTGACCCAG___GTGAGCAAGAGGATGCTGGCGGGGGGCGTGAGGAGCATGCCCAGCCCCCTCCTGGCCTGCTGGCAGCCCATCCTCCTGCTGGTGCTGGGCTCAGTGCTGTCAGGCTCGGCCACGGGCTGCCCGCCCCGCTGCGAGTGCTCCGCCCAGGACCGCGCTGTGCTGTGCCACCGCAAGCGCTTTGTGGCAGTCCCCGAGGGCATCCCCACCGAGACGCGCCTGCTGGACCTAGGCAAGAACCGCATCAAAACGCTCAACCAGGACGAGTTCGCCAGCTTCCCGCACCTGGAGGAGCTGGAGCTCAACGAGAACATCGTGAGCGCCGTGGAGCCCGGCGCCTTCAACAACCTCTTCAACCTCCGGACGCTGGGTCTCCGCAGCAACCGCCTGAAGCTCATCCCGCTAGGCGTCTTCACTGGCCTCAGCAACCTGACCAAGCTGGACATCAGCGAGAACAAGATCGTTATCCTACTGGACTACATGTTTCAGGACCTGTACAACCTCAAGTCACTGGAGGTTGGCGACAATGACCTCGTCTACATCTCTCACCGCGCCTTCAGCGGCCTCAACAGCCTGGAGCAGCTGACGCTGGAGAAATGCAACCTGACCTCCATCCCCACCGAGGCGCTGTCCCACCTGCACGGCCTCATCGTCCTGAGGCTCCGGCACCTCAACATCAATGCCATCCGGGACTACTCCTTCAAGAGGCTGTACCGACTCAAGGTCTTGGAGATCTCCCACTGGCCCTACTTGGACACCATGACACCCAACTGCCTCTACGGCCTCAACCTGACGTCCCTGTCCATCACACACTGCAATCTGACCGCTGTGCCCTACCTGGCCGTCCGCCACCTAGTCTATCTCCGCTTCCTCAACCTCTCCTACAACCCCATCAGCACCATTGAGGGCTCCATGTTGCATGAGCTGCTCCGGCTGCAGGAGATCCAGCTGGTGGGCGGGCAGCTGGCCGTGGTGGAGCCCTATGCCTTCCGCGGCCTCAACTACCTGCGCGTGCTCAATGTCTCTGGCAACCAGCTGACCACACTGGAGGAATCAGTCTTCCACTCGGTGGGCAACCTGGAGACACTCATCCTGGACTCCAACCCGCTGGCCTGCGACTGTCGGCTCCTGTGGGTGTTCCGGCGCCGCTGGCGGCTCAACTTCAACCGGCAGCAGCCCACGTGCGCCACGCCCGAGTTTGTCCAGGGCAAGGAGTTCAAGGACTTCCCTGATGTGCTACTGCCCAACTACTTCACCTGCCGCCGCGCCCGCATCCGGGACCGCAAGGCCCAGCAGGTGTTTGTGGACGAGGGCCACACGGTGCAGTTTGTGTGCCGGGCCGATGGCGACCCGCCGCCCGCCATCCTCTGGCTCTCACCCCGAAAGCACCTGGTCTCAGCCAAGAGCAATGGGCGGCTCACAGTCTTCCCTGATGGCACGCTGGAGGTGCGCTACGCCCAGGTACAGGACAACGGCACGTACCTGTGCATCGCGGCCAACGCGGGCGGCAACGACTCCATGCCCGCCCACCTGCATGTGCGCAGCTACTCGCCCGACTGGCCCCATCAGCCCAACAAGACCTTCGCTTTCATCTCCAACCAGCCGGGCGAGGGAGAGGCCAACAGCACCCGCGCCACTGTGCCTTTCCCCTTCGACATCAAGACCCTCATCATCGCCACCACCATGGGCTTCATCTCTTTCCTGGGCGTCGTCCTCTTCTGCCTGGTGCTGCTGTTTCTCTGGAGCCGGGGCAAGGGCAACACAAAGCACAACATCGAGATCGAGTATGTGCCCCGAAAGTCGGACGCAGGCATCAGCTCCGCCGACGCGCCCCGCAAGTTCAACATGAAGATGATATGAGGCCGGGGCGGGGGGCAGGGACCCCCGGGCGGCCGGGCAGGGGAAGGGGCCTGGCCGCCACCTGCTCACTCTCCAGTCCTTCCCACCTCCTCCCTACCCTTCTACACACGTTCTCTTTCTCCCTCCCGCCTCCGTCCCCTGCTGCCCCCCGCCAGCCCTCACCACCTGCCCTCCTTCTACCAGGACCTCAGAAGCCCAGACCTGGGGACCCCACCTACACAGGGGCATTGACAGACTGGAGTTGAAAGCCGACGAACCGACACGCGGCAGAGTCAATAATTCAATAAAAAAGTTACGAACTTTCTCTGTAACTTGGGTTTCAATAATTATGGATTTTTATGAAAACTTGAAATAATAAAAAGAGAAAAAAACTA)$ . 09BR004 ENSG00000074201.9 ENSG00000254471.1(112471),ENSG00000254434.1(219519) -/- ./- chr11:77637590 chr11:80102101 CDS/splice-site intergenic duplication 2 2 0 677 95 medium out-of-frame . Regulator_of_volume_decrease_after_cellular_swelling(100%)| . . ENSG00000074201.9 . ENST00000525428.6 . upstream downstream duplicates(1) ^CTCTTCCAGGGCGGGCGGTGTGGTGCACGCATTGCTGTGCTCCAACTCCCTCAGGGCCTGTGTTGCCGCACTCTGCTGCTATGAGCTTCCTCAAAAGTTTCCCGCCGCCTGGGCCAGCGGAGGGGCTCCTGCGGCAGCAGCCAGACACTGAGGCTGTGCTGAACGGGAAGGGCCTCGGCACTGGTACCCTTTACATCGCTGAGAG|GATAAACAGTATTGCTGCTCTGAAGACAGCTTGAGTAACACTGTTCTTGGACATTGATGGGCTTGTCTAATTAAG MSFLKSFPPPGPAEGLLRQQPDTEAVLNGKGLGTGTLYIAEr|insiaalkta* 09BR004 ENSG00000185274.12 ENSG00000232855.7 +/+ -/- chr7:71677306 chr21:28626676 CDS/splice-site exon/splice-site translocation 0 3 0 22 11 medium out-of-frame . . . . ENSG00000185274.12 ENSG00000232855.7 ENST00000333538.10 ENST00000433310.6 downstream downstream . ^(GAGACTTGAGCGTGACTGCGGAGCCTGGAGGATGCGGGCTCCCCGAGCGGGCTTCCCCTCTGCCCGGCGCGATGGAGCGGGTCGGTGAGCGGAACAAAGGCGCCTGCCCGGGGGAGCGGGTCTTCCGCTGAAGAGCGCGGGTGGCGCGCCGCGACGGCCGCCTGCGGGCCAAGGTGGGAGGCTGTGCGGCCCCAGGCGCGGCGCGCTCCGCCGTGGGCGGGCGGCGATCCCTGAGTCCGGCACCTGTGCGCCGCTCCCTCTGTGCCTCCCGGGCAGCCCCGCCTGCCGGCCTCGGAGTCCGCGGCGCCGGCGGCTAGAGGTCCAGAGGCGAACCACTTGCTGGTGCAGAAGAGAAACCCTCAAATCCCTGGCCTTTCGCGGAGACGCCTGGACGGGGCCGTGCGCCGTGGACTGAGCAGGCGTCTCGGGGAGCACTTCTGCAGAGCGAGGACTTCCATGTGAGCGATTCCGTTCTCCCCACCACCAATCCGACCTCCCAGCCGTCTCCGCCGCCCGAGCATCCTTGAGGTGGGACGAGCAGGGGCTTGGATCCCTGCCGGCCGTCTGGTGTGTGAGGCTTGCACGGCCCCTGGCTGCCCCGCGCCTCGCCGGAGCCCGAGGGGGCGCAGGTCCGGGGCGAGGGCCGGCCGGGCTGTTTGATGGCTTCACTGAGAAGAGTCAAAGTGCTGTTGGTGTTGAACTTGATCGCGGTAGCCGGCTTCGTGCTCTTCCTGGCCAAGTGCCGGCCCATCGCGGTGCGCAGCGGAGACGCCTTCCACGAGATCCGGCCGCGCGCCGAGGTGGCCAACCTCAGCGCGCACAGCGCCAGCCCCATCCAGGATGCGGTCCTGAAGCGCCTGTCGCTGCTGGAGGACATCGTGTACCGGCAGCTGAATG___GCTTATCCAAATCCCTTGGGCTCATTGAAGGTTATGGTGGGCGGGGTAAAGGGGGCCTTCCGGCTACTCTTTCCCCGGCTGAAGAAGAAAAGGCTAAGGGACCCCATGAGAAGTATGGCTACAATTCATACCTCAGTGAAAAAATTTCACTGGACCGTTCCATTCCGGATTATCGTCCCACCAA___GTGTAAGGAGCTCAAGTACTCCAAGGACCTGCCCCAGATATCCATCATATTCATCTTCGTGAACGAGGCCCTGTCGGTGATCCTGCGGTCCGTGCACAGTGCCGTCAATCACACGCCCACACACCTGCTGAAGGAAATCATTCTGGTGGATGACAACAGCGACGAAG___AGGAGCTGAAGGTCCCCCTAGAGGAGTATGTCCACAAACGCTACCCCGGGCTGGTGAAGGTGGTAAGAAATCAGAAGAGGGAAGGCCTGATCCGCGCTCGCATTGAGGGCTGGAAGGTGGCTACCGGGCAGGTCACTGGCTTCTTTGATGCCCACGTGGAATTCACCGCTGGCTG___GGCTGAGCCGGTTCTATCCCGCATCCAGGAAAACCGGAAGCGTGTGATCCTCCCCTCCATTGACAACATCAAACAGGACAACTTTGAGGTGCAGCGGTACGAGAACTCGGCCCACGGGTACAGCTGGGAGCTGTGGTGCATGTACATCAGCCCCCCAAAAGACTGGTGGGACGCCGGAGACCCTTCTCTCCCCATCAG___GACCCCAGCCATGATAGGCTGCTCGTTCGTGGTCAACAGGAAGTTCTTCGGTGAAATTGGTCTTCTGGATCCTGGCATGGATGTATACGGAGGAGAAAATATTGAACTGGGAATCAAG___GTATGGCTCTGTGGGGGCAGCATGGAGGTCCTTCCTTGCTCACGGGTGGCCCACATTGAGCGGAAGAAGAAGCCATATAATAGCAACATTGGCTTCTACACCAAGAGGAATGCTCTTCGCGTTGCTGAGGTCTGGATGGACGATTACAAGTCTCATGTGTACATAGCGTGGAACCTGCCGCTGGAG___AATCCGGGAATTGACATCGGTGATGTCTCCGAAAGAAGAGCATTAAGGAAAAGTTTAAAGTGTAAGAATTTCCAGTGGTACCTGGACCATGTTTACCCAGAAATGAGAAGATACAATAATACCGTTGCTTACGGGGAG___CTTCGCAACAACAAGGCAAAAGACGTCTGCTTGGACCA)GGGGCCGCTGGAGAACCACACAGCAATATTGTATCCGTGCCATGGCTGGGGACCACAG|AGATGGGGCCTGGATGTGTTGCTTAGGCTGTGTGAAACACCTGGTCTTAAGCGATCCTCTCACCCTGGCCTCCCAAAGCATTGGGATTACAG___GGAGAAAAGAATGGGAACTGTGAGGAAAAGAATGAC(ATGAACAATGGGAAGACCAAGGTCCCAGCACAAGTAGTAGATGCTGAGGAAAGAAGAAGTATGTTGTGGAGTAAGTGAGTGGGCCTGAGTTGAGAAGATCCTGGCCTTGGATTTTAAAACTGTCAG___GAATTGCATAAATTCGCTAGAATCAGAAGTCAGTTGTCCTGATCTCAGAACAATTTGGTGTGTACAAAGTCCAAGGTTTGAAAACTCATCAAGAAGTCAGCATCCTGCAAGAATCAGCCACCCATGCCACACTTTCTATAGTAACTTCTGTTCTGCATCAGACTACATCACTCTGGCTTTCTG___AGGGCACTATTCCAGGCCAGTGCTCTGGGAGGAATTACCCAGAATCCCTGTAGAAGCCACTACTGATGTCAGCTACAAGAGGAAGGGAACCCAAGTGGACTTCAGCCAGAACAAAGCTCTGTCACATGTTGGAATTTTACTGAACTTGAACAAATTATTCTTCAGAAAAAGTATTTTAAAGTCAAAAGACTCCTAGATGATTTCTAGGTCTTTTGCAGCATTAACTTCCTTTGAATCAATGCCTTCAATGATTATTTAAAAGAAAAGAAAGAAAAAATCAGAAAGTAAAGAAATGGATTTAGCTAGTAACCTTTAAAGAAAGCCCTCTTTCATTCATTTTTCTTCAAAGATTTATGTGATTTTTTTCTTATCTTGATGTATAATAATAAGAATTAGCTGCAAAAAGCTACAAGAAAGGTTGCATAAGTGCATACATTCTTTTCGAGTTCTGCTTCCTGTGGTAGTTCTTCACTTTTAATGATGAGTTGCTGAAGCAGGCACTCATTCTTTTATTGCATCATTTATTCTTGTTATCTGGGGAAGTAACAATGACAAGCTTTCCTAAGTAACAGCCCAACTCTTATTTGTGGCCCCTTTTCCTATGTCAATATTAGGATCATTCTATCAACGAAGAGGTCCTATTACCTAGGAAACCATGAAAGGTAAGACCTATGATCACAGGTGCTTACATGCATGCAAATGTAAAAGGAATACTTAAACCCTCACCTAACTTCTTTGGAAGTTTCAGTACACAGTTTTTGTTGATAGGCAATTAAGGTGCGTGTGTGAGTGTAGTATGTGTTTTTGTAAGAAAAAAAGTAGAGGAAATGGGAGATAATTTAGTGTGCTGGAAAGTTATAGAATTTGATATCTTGTTTTGCATAGATGATGCATTGTAGGAGTGACATTATTGTGAAACTTTGTTCAGTCGGTTTTCCTTCAAGCGATTTTGGTGCAGTTTTTCCAATCCAGTGTTAAGGGCATGACGATGTATTTTTCACAAGCTTGTCTAAGAGGAAACTCTGACAGATTATGATGAGGAAAACTAAATCCACTCATGTCATGTAAACACATAGAAGACTTCTCAGTGGGGTCTCTGCCTTGTACCTCAGATGCCAAGGGGGAGTTTGAGATTTGTCAAGTTGTTGACAACTGCCTTAGTCCATTTTGTGCTGCCATAACAGAATGACACGGATGTGGTAATTTATAATGAACAGAAATTTACTTCTTGAGGCTGGGAAATCCAAGGTTGAGGTGCCAGCATCTGGCAAGGGCTTTCTTATTGTGTCATCATATGGTGGAAGGCAGAATGTCAAGAGAGAAGGAGGAAACCAATTTTACCCTTTTATAAAGGCACCCATTCCACATGTAAGGGTGAAGCCCTCATGGCCTGCCACCTTTTAAAGACTCCACCTCTTGATACTGTCACAATAGCAACTGCATTTCAGCATGAGTTCTGGAAGGGACAGTTTCCAAACCAGAGGAGCAATTGCCTATCAGAGGTTGCAAGAAAGAGGTATTTTACTATTATTTGAGCTACCATTTTTAGCTTTATCCATACTTTTAGAAATAGGTGTTTTATTGAACTCCAATTATCCAGTTTGAGAATGTCATAATTTTCTATTAGGAGTCTGGCTGATCTAGTCATTAAAAAAGACACATAATAAATGTATAAGCATGTTTTTAAATGGACAGTTTATAAGTTAGTTAATAATATTAGTGTTAATTACTGTTACCACTAAATAAATAAACCACTACATTTTATGTTCTTTCAACAATCTGAAAAAAATATTTTGTAAAAAATTACTGTAATGCAAAATTTGGCTTAGTTAGCAACAGAGAGGGTAAATATCTGCTTTAAAGATCACAATGTCTGATGGCTATGAAACAGATGAGAAGTTTTGAGAAGATGACATCAATATGGTGTTGATTGGTTTCATGTGGCTTTGAGCTTTTCTGCCACTGGGAAGATCACTACTGTACATAGTTTACATATGATTCATGTGTGATGCCAGATTGCAGCTTCCTTCTTGCTGTATCTTAAGTGTACTTGGTATTCTGATTCAAGAGTGAGATCTTGAAGCTTTGGCAAATAGAATTGCCTAATTTTCATTTGTCCACTAAGCAATGCATGCAGTTAAAAAAATGAAAACAATACCAAACCTCCTTCTTTTGCAGTGAAGGAGCCCAAAACAAGTTACTCTCTTTCCGTCTCTCTCTTTAACTTAGAATATTGGTTATTTTGTATTCTCACACATGTAAAATTCCTTTCCTTTAATGCATATGTTCTCAATAAAAAAGAATTTTCCACTGAATTTCCAGGAAGACTCAACATAATTTAAAGATGGCACCTTACAAAAAGAACTCTCAATAGACAAGAAGAGGAGGCAGTAATAAACAATTATTTTCAAGACAGAGTTACCTAAAATCTTTCCTTGGTTTCTTACCGGCTACAGGACACTTTTCAAACTCTTTGGTTTCACTTTGACAAACTTGCTTCTTGCAATTCTCCTAAGGTTGTGTGTATACAACCACGTGGGATGTGGTGAATTTAGTCGGCCACAATGTAATAGTCTCTTCTCTATACATAAAATTAGATTACTAAAATCCCTATGTAAGAAACTTACAATCCCGCCAGGGAAAATTAGGATTGGGGAAATGAGATAATTAGTTAATCTCTCAAAAATCTGATGAACATAGTTTATGTTTTCTAAAATAGAGCCATGAAAACAGCCCACCAAATAATGAGAATGTCAATATCTCACACGTTCCTTCATTTGGTAATTAATAGCATGGAATGGATATATATTAATTTATCATTCTTTGATCTCCAGTGACTTTTCAGTATCTCTGTTCTCCTTTTTCCATATATTAAATACAGAACTTATACATTTGTTTTGTTTGATGGTGTTAATCTACAGTGCAGAAGAGTCCCTGTGTTTGTCCACTGTCTAATTTTCAAAGCCTCTCTGATTTTATGATTTTAATTTACCTTTTATCAGTGTGGTTTCACCGCATTTCTGCAGACATTCATGTGGATGCCTGAGCTGAAAAACTAACCTCACGTAGTCTTTATTTCTCAACTTGCATTCCCCAGTGCAGGGCCCAGTGGTGCCAATTCTGAACATAGTAAATTTACAAGAAAGCCCTTCCTCACCTATAACTTCAGGGATGTTTTCACCCATAAACCAAAACACTCAATTGCAAGGTTTGGGGATAATCTTCTCCCAGCTCTCTTTCTCTCTCCTACAGTTTCATTGCATTGCCTCATCTCTCTTTTATCTTTTCCCTTATGAGTTATTTCAGCTTCCTTTTCTTAACTTCTAGTTTCCTATTTCTCTAATAATCTAAGTCAGGGAGAAGTGTAAATTCATGTGCATGGAAACTAAAATTTCCCCGAGGATATAATGTACAGAGTAAATCCATCTTCACTAGAATTTTAGAACTTGAGATCGGGCATGTGTGATTATTCTACACATTTTTAATGGGTCTCTGTGCTTTCACATGTGATTTTGCCTCTTCCAAAAACAGTCTTTGTGTTCTTCACCATCTGGGAAATGTGTTTTCATCCATGTAAACCCAAATCAAATGCCATTTCCTTTATGGAAAATTATCCAGCTTCATCAGGCAGAATAATTAGCTCCTCTGTAGGCAAATAGCTCCTTGGTCTATTTTTGCCAAAGCAAGAACATCTTATTTTCCATACCTACTATGTGCTTGGCATTGTATCAGTACACATTTCTATTAGTGCATTCTAGCACTACATATTTTCAGGCCTATCTTATGTGATTGGCTTTGAGCATTTCCAGAGCAAGTATATTTTTGCTTCTTATACCTACCTCAGGATTTAACATAGTGGTGTCTGGCATAACTAGACATGGTAAGAATAAATGTTTGTTGAATGAATGATGTGTGAATATTTGAATGAGCATATTATATGAGTTGGTAAGACTATTCAGTTGCTGGATGTCAAAACTAATTAACTGAATGTATTTTTATCTTTGGCTTTTTATTAGCTTGGTTGCAAATTCTGTGACAACAGAATCTGTGTCTTTCATTCTCATCTTTACACCCCCAGTTCCAGGTACCTGGTGCCCAACAGGCATTACTGGATATCTGTAGAACTTATGATTAAAGAATAAAAGGATAACAGTGTGGGATGAAAATAATTCAATCTTTGACCTTTTTTTTTGAGTAGAGACAAGCACATTAAATTTGATTTTTGTTTAGCCCTAAGCAGCATCGTAGTTCTGTATCACTTTTATAAGCAGCTAGACATGGAAAAGGTAAAAGTAAGGACAGAGGATGGAGGCATAACCTATTCAGAGTCAATCATATGACTTTTGTCTGAAAAATTCGTACATAAAAAAATGAATGGTTTGAAACAAAAGCGAACTATTGGATGGAAGTAATTTGCACATTTAAAACCTGTCTCGCAACCAAGTGCATCAGTTGATTCTCTGGCAAACTATTGCTTTGCCTTTTCTTATCCAATATTTGTTTGTTTTTGAAGGAAAAAAGGTATGTGACTGAGAGGTAAAATATATGTATTTTTTCACCATGAATACTTGTCTTTATGCATTTTGTTAAAATTGTAGTAATTGATAATATGTAAGCCTGTTTCGTAATGGTGATTTTTTTGGTATGATATCTACAGATACAAATAGTGCATGTGTTAAGGAAACTCATGCACAAACAAAACAGCACATGCTGTACTCACAGCCAGTTACACAGAATGCTCATGCATGCATCTGTTGCTTATTAATTTTCTTCCTGCTGTTTGTATCATTCTTTTGAAGAATCTCCAGCAAGCTTTGTGCTTTGCCCAATTGTTTATAATGTCTATAAATCAGGGGCTTGGACCAAATGAAATGTCTTAGTAGTGTTTGCAAAATATTTGGATATTCTGATTGCGTTTTATTTTCCCAGCTTTAGAAAACATATAGATTAGCCTCTGTTGGGAACTTATATTCTCGTTACTCCTTGTCTCTTTTCTTTTTTCAGGAATTGGTCACTCTTTCAGCCAACTCGTAGGTTCAAACAATGTTTACATGTAGTGCTCAGTTTGTTTTAACTTCCTGCTGTAGACATTGACAGTTTTTTCTTCCTAAGAGTCTTATGAATAGGCAACAAAACAAAAACAAAAACAGGCAAAGTCCCAATCTATTAACTACGTACTTACAAATCAGGTGAAAGTGCTTGGTGAACAGTCTATGTTTTAGCAACTGTTTTTTAACGTTTGGTTGTGACATTTTTTAACAACAGCCATTGTTCAATTGTTAAACTATGTTTGGATTTGAGGTCTGAATGAGCTGAATTCAAAATATGGGACTTTTTATTAGAAACCCTGGTAAAGTGGACACTGGGGAAAAAGCCCAAGATTTCATGTGTTTGATTTATTGACTATGTGCGTCAACAGCCTGCTTTTAATTCTCAGAGTAAAATAAAAATACTCAGAATCTAA)$ MASLRRVKVLLVLNLIAVAGFVLFLAKCRPIAVRSGDAFHEIRPRAEVANLSAHSASPIQDAVLKRLSLLEDIVYRQLNGLSKSLGLIEGYGGRGKGGLPATLSPAEEEKAKGPHEKYGYNSYLSEKISLDRSIPDYRPTKCKELKYSKDLPQISIIFIFVNEALSVILRSVHSAVNHTPTHLLKEIILVDDNSDEEELKVPLEEYVHKRYPGLVKVVRNQKREGLIRARIEGWKVATGQVTGFFDAHVEFTAGWAEPVLSRIQENRKRVILPSIDNIKQDNFEVQRYENSAHGYSWELWCMYISPPKDWWDAGDPSLPIRTPAMIGCSFVVNRKFFGEIGLLDPGMDVYGGENIELGIKVWLCGGSMEVLPCSRVAHIERKKKPYNSNIGFYTKRNALRVAEVWMDDYKSHVYIAWNLPLENPGIDIGDVSERRALRKSLKCKNFQWYLDHVYPEMRRYNNTVAYGELRNNKAKDVCLDQGPLENHTAILYPCHGWGPQ|rwgldvllrlcetpglkrsshpglpkhwdyrekrmgtvrkrmt* 09BR004 ENSG00000177200.17 ENSG00000280397.1(885569),ENSG00000244024.1(192125) +/+ ./+ chr16:53141274 chr3:145331413 intron intergenic translocation 2 1 0 3 11 medium . . . . . ENSG00000177200.17 . ENST00000566029.5 . downstream upstream . ^(GAGTCCCAGGATTCCG)GGGACTGGAGGGCAGCGCCGGCAGCCAAG___TCATTTTTTGAGACCAGTACTGTTATAATCCCTATTTACAGATGAAGAAACTGAGCTTCAAAATGATTAAGTGTCTTGCCTAGGATTACATAGCTG|AACCACCATGCTCTGAAAAATCCAAATAAACTGGAGAAAGAGCCATATGAGAAGAGCAAAGTCATGCTGTCCAGTCTCAGCAGACCCCCAGGCTACAGCCAGCAACAAGTGCCAG . 09BR004 ENSG00000172965.17 ENSG00000285051.2 -/- +/+ chr2:111494885 chr3:170591114 exon/splice-site exon/splice-site translocation 0 2 0 35 6 medium . . . . . ENSG00000172965.17 ENSG00000285051.2 ENST00000645030.2 ENST00000663245.1 upstream upstream duplicates(1) ^(GCCTTTTTTTTTTTTCCTTCTTAGTCGTGTGTACATCATTGGGAATGGAGGGAAATAAATGACTGGATGGTCGCTGCTTTTTAAGTTTCAAATTGACATTCCAGACAAGCGGTGCCTGAGCCCGTGCCTGTCTT)CAGATCTTCACAGCACAGTTCCTGGGAAGGTGGAGCCACCAGCCTCTCCCTG|CCTAACGCTTCAGAGTTCACCCTGGGTGGCAAGACCAGGGCTGAAGGACCTTGTACCAGCAACTAAATGCTCTGTGCTGAAAGTGATGCACATCACCATG(GCCCACAACTCATAGTCCAGGATGGCTCATATGACCCCACTGCAATCACAAG___ATGAGTAGTTGAAAAGTAAGAGCATGCATGAGAAACTGACTTTCCAAAAAATGAGTGGAATTTCTTTTCCATACTGCTTCACTCTGCAACAGTATGCATCACAGCTTATGAATCAGATACTTCAGCATCAACTTTTTTCATGGAAAAGTGCATCATTTTGGAACAGAGAACTTCTGTGTTGTTGTAAAACCAAGTGAACAGTTCTTAAAATATCTTACGTCATATTAAATTTGAACTGCTGTTAAATTATGTCTGGAGCCACTCAGTGATGGCAGAAATGACTAAGTGCTTTGATTAGAAATTGTCTATGTTTATGCTAGGGGTTATTTGTGAATTTTATTCTGGAAAATTACACTAAGAGAGATTAGTATTCACTTTATCTTAAACTATCTTGATATGTAGCATCCACAAAGGGTGCATGAGTTGCTCTCTCCTTCATGCCTTCATGTTAAAAGGTAATGACCTCCACTTATGGTTGCTCTTGCTTTCATCTTACCCACTTTAAATCTTTACTCTGTACTCTGACTTCAATACCTGCTTGTGGCCCCTTTGGCTTTGGATGATCTCCTGGCATTTTTCACTGAGCACTCTTGCATGCTTTTGTTTCTTTCTCCGATTTTTCTTTTGACTTTGGGAGTTGACATTACTTTGAGTGAGATCATCTCCCTTAACTCCTGGCCCATAGAGCTTCCTTTCCCATCCCTCCAGCCACAGTTAGCTCCTAGATAATATTTTTGGATGCATAAAAATAGTTTTATTCTTCTTCTTTTGATTTAAGATGGTAACCTGAGTGAATGGGATGGGAGAGGCTTGGAGTTGGTGAGCAAGCCAAGGGAGGAATGAGGAAGTGATAGTAGAATTTAGCCCTTGATTTTAGTTTTGAAGCTTAATACATCCCTTAGGTTTTTATTTAGACTTATCATCAGCCTCTACCTGTCACTTATTTAAGCAACCGTTTATACAGCCTTTATGTGCCCAGTGCGATGCAAGTTGCTAGGAATAACCAAGTAGAAGTTGCAATCTCTGCCTTCCAGGAGCTTATTATCTAATGGGGGATGCAGAGAAGTTATAAAAAAAATTACAATTCATTGTGGTAGGTGCTACTGGAACACTCTAAGAGAATCGGGGATTGCTTAAAACATCCATTAGTGTTTATGGCTTTCATTTCATGAGCTGGCCTGAAAATAGTGCAGGGGTTGATCAATTTGGCAGGAATAATCAGACAATATTTATAAGACCCTTTTTACCAGCTGAAGACATTTTCCTTAAACGTGGTACAGTTCTTAGAATGGTATGTTTTCCCACTCATGCAACCGAGAAATGGAGGGTTTCTCTCCTTGGTGCTGAAACAGATATTTTCGGGTAGGAAGAGTGGATTTTGTAAACAGCACTGGTTTCTAAAATTGGTGATGAGGGGCAGAGAAGAAATCATTTATCTAGAGGACAGATTGGACAGAGGGTGAGCAGGCTCCATTTTGACAAATGGGGATGGCAATGCTGATGAGCAGTCAGCACAGAGACAGAGCACTAGTCCTTCTTAGTCTAATTCATCTTATAATTAATTGGCTCCAAAGAAGGCTCCCCACACAAGTGTGGGGGCAGCACAGTGAGTAGAGGTGCTCTCCATCCCCATGTCCTGATGCAGCAGATGCCATGGCTATGTGTAGGCAGTAAGGGGTGGGTGTCTGAAAACATGCAGTATAGCAGCTGCTCGTGGCCCCACTTTCTTAGTGGCTGCTGGCGGGGTTGTGGCCAAGACCATCTTCATAAATGCATCAATTCTGGGGACAGACTGAAAAAAATATTGCTTAAACATGGGCTTCTTTGCATCCCATAGCCATATGATGTCAACACTTTTCTGTTGACAAAGAACTTGTATCTCTTTCTTTTTCTAAGACAAGTGTGGAGTTAGCATAGTGTAGCAGAAAGCTAGACAGACCTGGAAGCTCAGTTTATTTATTTGCTAGCTGTATGGTTTGGGGGGAAATTAATTAATTCTCTGAGCATTGGTTTGCTAATTGATAAAATGCATAAGAAACTTAACTTTGAAATTGTAGTGAGGATTTACTGGCAGAACACATGTGAAGTGCCAGCACAGTTTCTGACAAACAGTAGGTGCCCCATAAATGGTAGTTATTAAATTTAAATATTACTATTTCCAGAAAGGGTTTTTTCCTCTTGAAGATGGGTATGTGGGCAGAGAATCAGAAAGCATTATATTTTGATAGAAGCCAGTACAGTCTCATTGCAGGTGAGGCCAGTGCACCTTTGTTTTCTCTTACGCTTGATGGGAGAGAAGCTGACTGACAAACAAACCATGAGGGCTCAGGCTGTAAGGTAATGAGTTCTAAAGGGCTTTGAAGCTAGGTTTCTTATACATGGTAGTCTATAAATGGATTATTCTCTTTTCAGATTTCCTTTTCTTCTTTTGCACTCTGAGACACAGAATTAATTTCATCATATCTACTCCTAAATTCATGCCTCACTATCATTGGTTCATAGAAAATATTTCCTTTGTTTATGTTTTATTTCATTACTTTCTCTCTTCTTCATCTCATATCACCAGGCTCCCATCAGTCACTCAAGGGCACCCAGTTTTGCTTGTCTTATGAATGCCTATTTCACTATTCTTATGTTTATTTACACATATGTGTAAGTGAAAGTACATGATATTTTTGCGTGTGCATTTTAAATGTACAGAAATGGTATTTGGTCAGAAATCTTGCTTTGTTACTTATTTTGAAGGTAAGAATTATTTGAGTTTCATTTTCATTGCAGTATGTAGATTTGGTTTATTTCTCAGATACCTGCATAAATTTCCATTTTATGTGTATACTGAATTTTATTTATGAATTCCCCTGGTGGTTACTTCTTACTCTTTACTCTTTCAAATCATGCTCAATTAATAATCATTTACATGTTTCCTTGTGCATTTATATGAGAGTTTCTGTGGATCTATATCCAGGAAGGAAATGATAGAGTTCTAGAGTACAAGCTCTGTAGGCCTGATTACTTTCCAAAAAGGCTGTACTAGTTTGCATTTCTACTAGCAGTGCAAGGATATTTTTGTCTTTGCACATCCTCATCAGCACTTGACATTGTTTGGTTTTCTATTTTTTGCCAGCTGGATGTGTGTAAAGTGGTATCTATTGTTTTATTTGAGTTTCTCTGGGACTGGTGGTGTTATACATGTCTTTATGTAGTTATTAACTAACTGTATTTTCTTTACTCTAAAATTGCTTTATTATTATTTTACTGCTTTCCTATGTCCTTGCCTTTTTTGTATTACAGAATTCTTTGTACATTTTAGATATTAACCTATTGTCAGTCTTGGAAATGATAAAATA)$ . 09BR004 ENSG00000111696.12 ENSG00000226708.1(179899),ENSG00000235640.1(70958) -/- ./- chr12:103814937 chr2:123624344 CDS/splice-site intergenic translocation 2 0 0 8 1 medium out-of-frame . 5'_nucleotidase_family(100%)| . . ENSG00000111696.12 . ENST00000392876.8 . upstream downstream . ^(AGAGCGCGGGTAGATCTTGGGCCGGGCAGCAGCAGTCGCAGAGCGGCGCGGCGGCGGTGGCGGCAGCAGGCAGCAGGCATGACCATGGCAGCGGCGGCGGTGGTGGCACGCGGGGCCGGGGCGAGGGCAGCGACAGCGGCGGCTTTGCGGGGTGGCTGCGGGACCGCGGCTCGGGGGCGGCCGTGTGCGGGCCCCGCCCGGCCCTTGTGCACTGCACCCGGGACCGCCCCGGACATGAAGCGCTACCTGTGGGAGCGCTACCGGGAGGCGAAGAGAAGCACA)GAAG___AATTGGTTCCTTCCATTATGAGCAACTTGTTGAATCCAGATGCCATTTTCTCAAACAATGAAATGAGCCTGTCAGACATTGAAATCTATGGCTTCGATTATGATTACACCTTGGTGTTTTATTCAAAGCACCTCCACACGCTGATATTTAATGCTGCACGGGACCTTCTCATCAATGAACACCGG|TCTTGAGAAAGGTCCTGCAATTGGTCCATCAGCAC MTMAAAAVVARGAGARAATAAALRGGCGTAARGRPCAGPARPLCTAPGTAPDMKRYLWERYREAKRSTEELVPSIMSNLLNPDAIFSNNEMSLSDIEIYGFDYDYTLVFYSKHLHTLIFNAARDLLINEHR|s* 09BR004 ENSG00000135205.15 ENSG00000144218.19 +/+ -/- chr7:77294938 chr2:100008932 3'UTR CDS/splice-site translocation 2 0 0 106 0 medium stop-codon . |AF-4_proto-oncoprotein(100%) . . ENSG00000135205.15 ENSG00000144218.19 ENST00000285871.5 ENST00000317233.8 downstream downstream . ^(GGATACCAAGGACGCGACTTCTTGTTTGGAGAGGGTGGAGCTTTGGAGTGAGACCCAGGAGGCCAAATCCCAAAGAGAAAAATAGGAGCCTAAATAAGGATCAGGACCAAGGGAAGGG___AATCGTGAAAAATGGAAGACAGTAGCACAGACACAGAAAAAGAAGAGGAAGAGGAGAAAGATGAAAAGGATCAAGAGCCCATTTATGCCATAGTGCCCACAATTAACATTCAAGATGAGCGGTTTGTTGATTTATCTGAAACTCCAGCTTTCATTTTTCTGCATGAG___TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGCCAAACGTTTCACTGAGCAAATACAACAGCAGCAGTTTCACCTGCAGCAAGCTGATAATTTTCCAGAAGCATTCTCCACGGAGGTCTCCAAAATGAGAGAACAACTTCTCAAGTATCAAAATGAATATAATGCAGTGAAGGAAAGAGAGTTCCATAATCAGTACAGATTAAATAG___CTTAAAGGAAGAAAAAATCATCATAGTAAAAGAATTTGAGAAGATAACAAAGCCAGGA___GAAATGGAGAAGAAGATGAAAATATTGAGAGAAAGCACTGAAGAATTACGTAAAGAAATAATGCAGAAGAAATTAGAAATTAAAAATTTACGAGAAGATTTGGCATCTAAACAAAAGCAATTATTAAAAGAGCAGAAGGAACTAGAAGAATTGTTGGGACATCAGGTCGTCCTAAAG___GATGAAGTGGCCCACCATCAAACCATTCCAGTACAAATTGGAAAAGAGATAGAAAAAATAACACGCAAAAAAGT___AGAAATGGAAAAGAAAAAAATTGTCTTGGAACAAGAAGTCAAAACGCTAAATGACTCCCTAAAGAAAGTTGAAAACAAGGTTAGTGCTATAGTGGATGAGAAGGAAAATGTAATAAAGGAAGTTGAAGGCAAACGAGCCTTACTTGAAATCAAAGAACGAGAACATAACCAATTGGTCAAGCTATTGGAATTAGCCAGAGAGAATGAAGCAACTTCATTAACTGAAAG___AGGGATCTTGGATCTCAATTTACGCAACAGTCTCATTGACAAGCAGAACTACCATGATGAACTTTCTCGTAAGCAAAGAGAGAAAGAACGAGATTTTCGAAATTTAAGAAAGATGGAACTGCTCTTGAAAGTGTCCTGGGATGCACTTAGGCAAACTCAAGCACTGCATCAAAGGCTTCTATTAGAG___ATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAG___AAAATTATATCAGAAATGGAGTCTAAGTTAGTAGAACAACAACTTGCAGAAGAAAACAAGCTTTTAAAGGAGCAAGAAAACATGAAAGAGCTAGTAGTCAACCTTCTCCGCATGACTCAAATCAAAATTGATGAAAAGGAACAAAAGTCCAAGGATTTCCTGAAAGCTCAG___CAAAAATACACCAACATTGTTAAAGAAATGAAAGCAAAGGATCTTGAAATCAGGATACACAAGAAGAAAAAATGTGAAATTTATCGGAG___ACTGAGAGAGTTTGCTAAACTGTATGACACCATTCGAAATGAAAGAAACAAATTTGTTAACTTACTCCACAAAGCTCATCAGAAAGTAAATGAAATAAAAGAAAGGCATAAAATGTCATTAAATGAACTTGAAATTCTGAGAAATAGTGCCGTTAGTCAAGAAAG___AAAGCTACAAAATTCCATGCTGAAACACGCCAACAATGTTACCATCAGAGAGAGCATGCAAAACGATGTGCGCAAAATTGTATCAAAACTTCAGGAAATGAAAGAAAAGAAGGAAGCCCAGTTAAATAACATTGACAGACTTGCCAACACGATCACAATGATCGAAGAGGAGATGGTGCAGCTTCGCAAAAGATACGAAAAAGCTGTTCAGCATCGAAATGAAAG___TGGCGTTCAGCTGATAGAGCGGGAAGAAGAAATATGCATTTTTTATGAAAAAATAAATATCCAAGAGAAGATGAAACTAAATGGAGAAATTGAAATACATCTACTGGAAGAAAAGATCCAATTCCTGAAAATGAAGATTGCTGAGAAGCAAAGACAAATTTGTGTGACCCAGAAATTACTGCCAGCCAAGAGGTCCCTGGATGCCGACCTAGCTGTGCTCCAAATTCAG___TTTTCACAGTGTACAGACAGAATTAAAGACCTGGAGAAACAGTTCGTAAAGCCTGATGGTGAGAATAGAGCTCGCTTCCTTCCAGGGAAAGATCTGACCGAAAAAGAAATGATCCAAAAATTAGACAAG___CTGGAACTACAACTGGCCAAGAAGGAGGAGAAGCTGCTGGAGAAGGATTTCATCTATGAGCAGGTCTCCAGGCTCACAGACAGGCTCTGCAGCAAAACTCAGGGCTGCAAGCAGGACACACTGCTCTTAGCCAAGAAG___ATGAATGGCTATCAAAGAAGGATCAAAAATGCAACTGAGAAAATGATGGCTCTTGTTGCTGAGCTGTCCATGAAACAAGCCCTAACCATTGAACTCCAAAAGGAAGTCAGGGAGAAAGAAGACTTCATCTTCACTTGCAATTCCAGGATAGAAAAAGGTCTGCCACTCAATAAGGAAATTGAGAAAGAATGGTTGAAAGTCCTTCGAGATGAAGAAATGCACGCCTTGGCCATCGCTGAAAAGTCTCAG___GAGTTCTTGGAAGCAGATAATCGCCAGCTGCCCAATGGTGTTTACACAACTGCAGAGCAGCGTCCGAATGCCTACATCCCAGAAGCAGATGCCACTCTTCCTTTGC)CAAAACCTTATGGTGCTTTGGCTCCTTTTAAACCCAGTGAACCTGGAGCCAATATGAGGCACATAAGGAAACCTGTTATAAAGCCAGTTGAAATCTGAATATGTGAACAAATCCAGGCCTCTCAAGGAAAAGACTTCAACCAGGCTTCCTTGTACCCACAGGTGAAAAAT|TGTCTATGAACCAGATAGAAATGCATTACGGAGGAAAGAACGAG(AAAGAAGAAATCAAGAAACTCAACAGGATGATGGCACGTTTAATTCTAGTTACTCTCTCTTCAGTGAGCCCTACAAG___ACTAACAAGGGGGATGAACTCTCCAACCGGATCCAGAACACTTTAGGCAATTATGATGAAATGAAAGACTTTTTAACTGATAGATCCAATCAGAGTCATCTCGTTGGAGTTCCCAAACCTGGGGTTCCTCAGACTCCTGTGAACAAGATCGATGAACATTTTGTTGCAGATTCAAGAGCCCAGAACCAGCCCTCGTCTATCTGTAGCACTACAACTTCCACACCAGCAGCTGTCCCCGTGCAGCAGAGTAAGAGAGGCACTATGGGCTGGCAGAAGGCTGGGCACCCACCCTCTGACGGCCAACAGAGAGCAA___CACAACAGGGCTCTCTCAGGACCTTGCTTGGAGATGGTGTTGGCAGACAGCAGCCTCGGGCCAAACAAGTGTGCAATGTGGAGGTGGGCCTTCAGACCCAGGAGAGGCCACCTGCCATGGCGGCCAAGCACAGCAGCAGCGGACACTGTGTTCAGAACTTTCCTCCATCCCTAGCTTCAAAACCCAGCCTGGTCCAGCAGAAACCGACCGCGTATGTGAGGCCAATGGACGGCCAAGATCAGGCCCCTGATGAGTCTCCTAAGCTGAAGTCGTCTTCGGAAACCAGCGTGCACTGCACATCATACAGGGGAGTCCCTGCCAGCAAGCCGGAGCCTGCCAGAGCCAAGGCCAAGCTCTCCAAGTTCAGCATCCCCAAGCAGGGGGAG___GAGAGTAGATCTGGAGAAACCAACAGCTGTGTTGAAGAAATAATCCGG___GAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAG___GACTCTCAGCTTGTATCCTCTGGACACAATAATCCAA___AGAAAGGTGATGCAGAGCCAGAGAGTCCAGACAATGGCACATCGAATACATC___AATGCTGGAAGATGACCTTAAGCTAAGCAGTGATGAAGAGGAGAATGAACAG___CAGGCAGCTCAGAGAACGGCTCTCCGCGCTCTCTCTGACAG___CGCCGTGGTCCAGCAGCCCAACTGCAGAACCTCGGTGCCTTCCAGCAAGGGCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCTCCTCCAGCGACTCAGAGAGCAGCTCCGGATCTGACTCGGAGACCGAGAGCAGCTCCAGCGAGAGTGAGGGCAGCAAGCCCCCCCACTTCTCCAGCCCCGAG___GCTGAACCGGCATCCTCTAACAAGTGGCAGCTGGATAAATGGCTAAACAAAGTTAATCCCCACAAGCCTCCTATTCTGATCCAAAATGAAAGCCACGGGTCAGAGAGCAATCAGTACTACAACCCGGTGAAAGAGGACGTCCAGGACTGTGGGAAAGTCCCCGACGTTTGCCAGCCCAGCCTGAGAGAGAAGGAGATCAAGAGCACTTGCAAGGAGGAGCAAAGGCCAAGGACAGCCAACAAGGCCCCTGGGAGTAAAGGCGTGAAGCAGAAGTCCCCGCCCGCGGCCGTGGCCGTGGCGGTGAGCGCAGCCGCCCCGCCACCCGCAGTGCCCTGTGCGCCCGCGGAGAACGCGCCCGCGCCTGCCCGGAGGTCCGCGGGCAAGAAGCCCACCAGGCGCACCGAGAGGACCTCAGCCGGGGACGGCGCCAACTGCCACCGGCCCGAGGAGCCCGCGGCCGCGGACGCGCTGGGGACGAGCGTGGTGGTCCCCCCGGAGCCCACCAAAACCAGGCCCTGTGGCAACAACAGAGCGAGCCACCGCAAGGAGCTGCGCTCCTCCGTGACCTGCGAGAAGCGCCGCACGCGGGGGCTAAGCAGGATCGTCCCCAAATCCAAGGAGTTCATTGAGACAGAGTCGTCATCTTCATCCTCCTCCTCGGACTCCGACCTGGAGTCCGAGCAGGAGGAGTACCCTCTGTCCAAAGCACAGACCGTGGCTGCCTCTGCCTCCTCCGGGAATGATCAGAGGCTGAAGGAGGCCGCTGCCAACGGGGGCAGTGGTCCTAGGGCCCCTGTAGGCTCCATCAACGCCAGGACCACCAGTGACATCGCCAAGGAGCTGGAGGAGCAGTTCTACACACTGGTCCCCTTTGGCCGGAACGAACTTCTCTCCCCTCTAAAGGACAGTGATGAGATCAGGTCTCTCTGGGTCAAAATCGACCTGACCCTCCTGTCCAGGATCCCAGAACACCTGCCCCAGGAGCCAGGGGTATTGAGCGCCCCTGCCACCAAGGACTCTGAGAGCGCACCGCCCAGCCACACCTCGGACACACCTGCAGAAAAGGCTTTGCCAAAATCCAAGAGGAAACGCAAG___TGTGACAACGAAGACGACTACAGGGAGATCAAGAAGTCCCAGGGAGAGAAAGACAGCTCTTCAAGACTGGCCACCTCCACCAGTAATACTTTGTCTGCAAACCACTGCAACATGAACATCAACAG___TGTGGCAATACCAATAAATAAAAATGAAAAAATGCTTCGGTCGCCCATCTCACCCCTCTCTGATGCATCTAAACACAAATACACCAGCGAGGACTTAACTTCTTCCAGCCGACCTAATGGCAACAGTTTGTTTACTTCAGCCTCTTCCAGCAAAAAGCCTAAGGCCGACAGCCAGCTGCAGCCTCACGGCGGAGACCTCACG___AAAGCAGCTCACAACAATTCTGAAAACATTCCCCTCCACAAGTCACGGCCGCAGACGAAGCCGTGGTCTCCAGGCTCCAACGGCCACAGGGACTGCAAGAGGCAGAAACTTGTCTTCGATGATAT___GCCTCGCAGTGCCGATTATTTTATGCAAGAAGCTAAACGAATGAAGCATAAAGCAGATGCAATG___GTGGAAAAGTTTGGAAAGGCTTTGAACTATGCTGAAGCAGCATTGTCGTTTATCGAGTGTGGAAATGCAATGGAACAAGGCCCCATGGAATCCAAATCTCCTTATACGATGTATTCAGAAACAGTAGAGCTCATCAG___GTATGCTATGAGACTAAAAACCCACTCAGGCCCCAATGCCACACCAGAAGACAAACAACTGGCTGCATTATG___TTACCGATGCCTGGCCCTCCTGTACTGGCGGATGTTTCGACTCAAAAGGGACCACGCTGTAAAGTATTCAAAAGCACTAATCGACTATTTCAAG___AACTCATCTAAAGCCGCCCAAGCCCCATCTCCGTGGGGGGCCAGTGGAAA___GAGCACTGGAACCCCATCCCCCATGTCTCCCAACCCCTCTCCCGCCAGCTCCGTGGGGTCTCAGGGCAGCCTCTCCAACGCCAGCGCCCTGTCCCCGTCGACCATCGTCAGCATCCCACAGCGCATCCACCAGATGGCGGCCAACCACGTCAGCATCACCAACAGCATCCTGCACAGCTACGACTACTGGGAGATGGCCGACAACCTGGCCAAGGAAAACCGAG___AATTCTTCAACGACCTGGATCTGCTCATGGGGCCGGTCACCCTGCACAGCAGCATGGAGCACCTGGTCCAGTACTCCCAACAGGGCCTGCACTGGCTGCGGAACAGCGCCCACCTGTCATAGGGACCTCACCCTGGGGCCAGAGTGGGCTCTGGTCTCCACAGATGGCTCAACGTTTTTGGACACTGTGCTACTGAAACTCCCAGCCACAGCATTTATCAGACTGCGGTGAACATTTCCTCAGCATTGAACAATGATCTTTTGCAGGGCATGTGTGTTTGTATGTGTGGGTATATAAGAAGCCGCCTGTGTATGTGTGTAAGATACACAGCTCTTCAGAACACACCTTCTTTGTCTAGTTTCCATAATCCCAGGCTAGACAAAGTGATCAGAGGTTTCTGACTAGAGGAAGTACACACACACACACACACACACACACACACCGTACACTCACACACAATCACAGACACACACTTTCTATTCCATTCCAGTGCTAAACCGTGACTTCTTAGAAAATTCAACCAAAATCTCATGGGTTAGTTAACCAGGTGCAATACAGCACACCAAAAGCTTGACTGCCAGTGAAGATGGACCTGCTCTTATACTGTTGATTACTTTCAGTATTAATATACTATTCCCCAATTATTTTTTGATTGGTATGTATTAATGGGTAATTGAATAATGAAAATAAGCCAGGTATTTTTGTGCCGGAAGTTTACTAGATTGCATGTTACCAAATACCCTGCTCTTCCTCTAATTCCCTTCCCCCATCTGACTCTATTATCAACTAAATGCATTCCAGGCAAACAGATGGACACTCACAGCCCTTCCCAGCCCCACCTCCAAGTAGTATGCAAATGGCACTGAGATTTAGCAAAAACGCGGCGTCTTTGAAAGTTAACAGACACTAAGGTAGCAGTGCCTGTGTGTTGGAGCTCAGTTAGGAGTTGAAGTTTTCTGCACCTGTGATAACAAGCCCACCAGCCACATGCATTTCTTCTTCCTGCCACTGTGACTCGGTGGCTGTAGAGCCACATGGCATTTGTCAGCCAATCTGTTTCAAGTCTTTTCTTTCCACCAATAGCTTTCTTACAGATTTTCTTGGCTAAATGAGGCCATTACCTAGATTGTCCCTTCAGTAGGAGCCTGAATCCTTCGCTTACCAGGCTGAGAGCTATTTGCCATGATAATGCTGATTCTCTCACTCCTCATGCAGAATGTGCACCTGCAGCCCTTTGATGCGTTTTGATTTGGGGGCGATTTTTCAGGCTTTGATTAGCAGGCTGCTTGCAATGCAGAAGATCACAGTTCCTTTCTGGGGCAGCAGCAACCAGAGCCTCTTCCTGTGTCCTGTGTGTCTGGTATGTTTACACCTTGCTCTGAGTTTTTCTCTTGTTTTCTTTTTTTAATTAAGTTTACATTTTAGTTTCTTTGACATCTTGTTTACAGTTTTTGTCTGATGTTTTTTCTTTTGTAGTGTCTTATGCCCTAGATTTAGTCATCTTGTTAAATATATTTGGATATGAAATCTTGACGAAAAGAAAATAACTCCTGAAAAAGAGGGTCTATCTTGCCACACGTTAAAAACAAAAATAATGTCCTTGTGGCCTCTTACTTGATAAAGTTGCACCAGGACGGTCTGAGAAAGGCAGGCGGTGTAATATGTGGTGCAATCCATTTTTTCAAGGTGATGACGGCACAAAATACTTAGACTAGATGCTGATCCATAAACATTCACTGATATTCTTACAGGTTGGTTTGCAGTGTTAACATTTTTGTTAGCCTGATCTGTAGGTGGGAAGTAAGATCATCATAATTCCTTAGCTCTGAGCACTGATTCAAAATTGTATAAATGACTGAACAACTTAGATGATTTGAAATTAATTGAAAATAAGAAGGGCTTGTGGAATTTGCATTTGGCTTTGGCCTTCAAGCATTTGGAAATATTAAGAGAATTTCCATTTTACATGTCTCCAACTGGGGTGCTTCTTACAACCCTTTCACTTTTTTTTTGAGACGAGTTTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCATCCTCTGCCTCCTGGGTTCAAGTGATTGTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACTACCATGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCCACCTCCCAAAGTGTTGTGATTACAGGCGTGAGCCACCACACCCAGCCCTTTCACTAATTTTTGGCAGAGTTCACAATCCCATCCTATGTCAGAAACTTGAACCTAACTTAAGAAATTTTGAGTCATTTTTTTGGAGGACTGAGGCTTTGTTCTACCTACTCTTGAAGAATCCTGATGAAATATTCAAACACATAAAGGGATGGCCCTGGAGGTCTATCCTGCATACCTGGAGAGCTTCTCTGGTCCTGCCCACCTTGAAAGTTGCAGACTTTGTTGTAACATCTATGTGATGAGCTTCCCTGTGAAGCCCCATTTGACAGGTGGGCCAGCAGTGTTTTATCAGCACTCTGATGGCCCACATTTCCCAGGAAAACTTCTTGAAACTTACCGTTGTGGGCAGTGGTCAGAGCGTGTAGTTCTTATGACTGTCTTGTTTCATCTGTGGAGCACGTGTGGAGCACGTTGGTACAGCAGTTTCTGTGGGGTTTGGCATGGGTGATTTTGGTTAGTAACCATCCTCCAATTGTTGCTTGTGAAAGTCATTCATAACTTGTTCCTTTTACTTAGTTTTGTTGTTACTGCTGTTGTTGTTGGTTTGGTTGGTTTTGAGACCGGGTCTGGCTCTGTAGCCCAAGCTGGAATGCGGTGGCGCGATCATGGCTCCCTGCAGCCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAGCAGCTGGGAAGATAGGCACGTGCCACCACACCCGGCTAATTTTTTCTTTATTTTTTTTGTAGAGATGGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTTTGGCCTCGGCCTCCCAAAGTGCATGAGCCACCATGCCTGGCCTGTTTAGTTTTGTTTCAAGTTGAAATACCTTTCTTGTGTTTTCTAATTAGAAAAGTAATATCTACTCATTGTAAAAACTCAAACAGTGCAGAAATGTAGAAAGTAGAAAGTGTAAGTCCCTGGTTGTCCCTTCTGCCTGAGACAACCACTGCTCACAGTTTGATGTATATCCTTCCAGAGACTCTCAAATTTAAGCAAATAATTTTTATTACCATGTCTTTTTATTTGAAGACGTACATTTGCCTCCAAAGTTCAACACAAGTTCAACTGACCATATCCTTCCATGACCTGAATAGATGCTATCCTTTATCACGATGTTCAATTGCCTTTGAAAGAGAGTAGTCCAGGTATATTCCTGATCAAAATTTGGCATTTTTGATGATACTACTCTACACAGATCAGACTCATGTGCAGAATCGTGCCTGGAGAGAGAGGTTTGGTTAAGACAGAGATTTCTGGAAACATTCAAATTGCAAATGGAAACTTGAAACCCACAATCTAATGAGGAATGTACTGGAAAAATAATCTGAAGAGTTGACAAATTGTGTACTAGATTGAACACATGGAATGCAATGCAATGAGACTTTCTGCACTAAAACTTATCCTCATATGTACAACAATGATGTGTGTATTATATAACAGTGATGTGTACATTTCTGACACCCCATACATAATATACACAGTTTGTATAAATGCATACATTTAAAAATATATATGTACAATACAGCTAACATAAAACTGTAGTACGCCTGAAGGATATTACTAGTGCCTAATATTGAGTATGAGTCACTGCGTGTTCGCATCAACTTGGAAGTGCAGTAATTGTTATAAAATTAATCAGTGCAGCCAACATTATTTATGAATCACATCTTTGAAACTGTGCAGTAGCATATACATATATATTTTTAAATAACATTTTTCACAGTTTTCCAGAGTTACTGTTGAAATCTGCATCACCAAAAAAAAAAAAAAGCAAGATTTTTTTAACAATGTAGACACTCTTCAGACCCAGTAATCTGCGTGTGATTTCCTATTTGTAGATTCCCAAGAGACTTTAGCAGTCACCAGCCTTAATGCATGTACAGGATATTATTGTGACTTAATTTATCTGCAGTTTTTAATCCATGTGAAATTGGAATTTATAAACGGACTTGGATTAAACATGTCTGCCTTTCTAAGGTTGCAAATGTTACATTAAATGATTTATGTTGT)$ . 09BR005 ENSG00000141736.13 ENSG00000273576.1(28108),ENSG00000171532.5(8101) +/+ ./+ chr17:39720022 chr17:39595667 intron intergenic duplication 194 222 6 636 580 high stop-codon . Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(100%),Receptor_L_domain(100%)| . . ENSG00000141736.13 . ENST00000584601.5 . downstream upstream duplicates(26),inconsistently_clipped(9),low_entropy(3),mismatches(2) ^(AGTACGCAGTCGCGGTACACCGGCTCACGGTCGCCCTGGGAGCCGCTCGCCAGCGCCGCTGCCCCAGCTAGCAGGACCAACCGCGCCGCCAGGCCGGCCATCCTTTCTCCCTGGCTCGCCGCCGGGGGAGGAGCTTAGGAGTATGAAGCTTCCACTTCCGGAGTAACCGGAAGTTCCTGTGTTCTTTATTCTACTCTCCGCTGAAGTCCACACAGTTTAAATTAAAGTTCCCGGATTTTTGTGGGCGCCTGCCCCGCCCCTCGTCCCCCTGCTGTGTCCATATATCGAGGCGATAGGGTTAAGGGAAGGCGGACGCCTGATGGGTTAATGAGCAAACTGAAGTGTTTTCCATGATCTTTTTTGAG___TCGCAATTGAAGTACCACCTCCCGAGGGTGATTGCTTCCCCATGCGGGGTAGAACCTTTGCTGTCCTGTTCACCACTCTACCTCCAGCACAGAATTTGGCTTATG___CCTACTCAATGTGAAGATGATGAGGATGAAAACCTTTGTGATGATCCACTTCCACTTAATGAATG___GTGGCAAAGCAAAGCTATATTCAAGACCACATGCAAAGCTACTCCCTGAGCAAAGAGTCACAGATAAAACGGGGGCACCAGTAGAATGGCCAGGACAAACGCAGTGCAGCACAGAGACTCAGACCCTGGCAGCCATGCCTGCGCAGGCAGTGATGAGAGTGACATGTACTGTTGTGGACATGCACAAAAGTGAG___ATACTTCAAAGATTCCAGAAGATATGCCCCGGGGGTCCTGGAAGCCACAAG___TGTGCACCGGCACAGACATGAAGCTGCGGCTCCCTGCCAGTCCCGAGACCCACCTGGACATGCTCCGCCACCTCTACCAGGGCTGCCAGGTGGTGCAGGGAAACCTGGAACTCACCTACCTGCCCACCAATGCCAGCCTGTCCTTCCTGCAG___GATATCCAGGAGGTGCAGGGCTACGTGCTCATCGCTCACAACCAAGTGAGGCAGGTCCCACTGCAGAGGCTGCGGATTGTGCGAGGCACCCAGCTCTTTGAGGACAACTATGCCCTGGCCGTGCTAGACAATGGAGACCCGCTGAACAATACCACCCCTGTCACAGGGGCCTCCCCAGGAGGCCTGCGGGAGCTGCAGCTTCGAAGCCTCACAG___AGATCTTGAAAGGAGGGGTCTTGATCCAGCGGAACCCCCAGCTCTGCTACCAGGACACGATTTTGTGGAAGGACATCTTCCACAAGAACAACCAGCTGGCTCTCACACTGATAGACACCAACCGCTCTCGGGCCT___GCCACCCCTGTTCTCCGATGTGTAAGGGCTCCCGCTGCTGGGGAGAGAGTTCTGAGGATTGTCAGAGCC___TGACGCGCACTGTCTGTGCCGGTGGCTGTGCCCGCTGCAAGGGGCCACTGCCCACTGACTGCTGCCATGAGCAGTGTGCTGCCGGCTGCACGGGCCCCAAGCACTCTGACTGCCTG___GCCTGCCTCCACTTCAACCACAGTGGCATCTGTGAGCTGCACTGCCCAGCCCTGGTCACCTACAACACAGACACGTTTGAGTCCATGCCCAATCCCGAGGGCCGGTATACATTCGGCGCCAGCTGTGTGACTGCCTGTCCCT___ACAACTACCTTTCTACGGACGTGGGATCCTGCACCCTCGTCTGCCCCCTGCACAACCAAGAGGTGACAGCAGAGGATGGAACACAGCGGTGTGAGAAGTGCAGCAAGCCCTGTGCCCGAG___TGTGCTATGGTCTGGGCATGGAGCACTTGCGAGAGGTGAGGGCAGTTACCAGTGCCAATATCCAGGAGTTTGCTGGCTGCAAGAAGATCTTTGGGAGCCTGGCATTTCTGCCGGAGAGCTTTGATGG___GGACCCAGCCTCCAACACTGCCCCGCTCCAGCCAGAGCAGCTCCAAGTGTTTGAGACTCTGGAAGAGATCACAG___GTTACCTATACATCTCAGCATGGCCGGACAGCCTGCCTGACCTCAGCGTCTTCCAGAACCTGCAAGTAATCCGGGGACGAATTCTGCACAA___TGGCGCCTACTCGCTGACCCTGCAAGGGCTGGGCATCAGCTGGCTGGGGCTGCGCTCACTGAGGGAACTGGGCAGTGGACTGGCCCTCATCCACCATAACACCCACCTCTGCTTCGTGCACACGGTGCCCTGGGACCAGCTCTTTCGGAACCCGCACCAAGCTCTGCTCCACACTGCCAACCGGCCAGAGGACGAGTGTG___TGGGCGAGGGCCTGGCCTGCCACCAGCTGTGCGCCCGAGGGCACTGCTGGGGTCCAGGGCCCACCCAGTGTGTCAACTGCAGCCAGTTCCTTCGGGGCCAGGAGTGCGTGGAGGAATGCCGAGTACTGCAGGG___GCTCCCCAGGGAGTA)TGTGAATGCCAGGCACTGTTTGCCGTGCCACCCTGAGaGTCAGCgCCAGAATGGCTCAGTGACCTGTTTTGGACCG___GcGGCTGcCCAGTGTGTGGCCTGTGCCCACTATAAGGACCCTCCCTTCTGCGTGGCCCGCTGCCCCAGCGGTGTGAAACCTGACCTCTCCTACATGCCCATCTGGAAGTTTCCAGATGAGGAGGGCGCATGCCAGCCTTGCCCCATCAACTGCACCCACTC___CTGTGTGGACCTGGATGACAAGGGCTGCCCCGCCGAGCAGAGAGCCAGGTTGGCCTGGACCCCAGGATGTACCCTTCATTGCCCTTCACTCCCCCACTGGATGCTGGGTGGTCACTGCTGTAGGGAGGGGACCCCCTGACATATGTCCCTTCCCACCCACTCTTCCACTGTGGAACCTCCTGTCATTTTCCACTTCACCAAGTGACAGAGGACCTGCTCAGATGCTGAGGGGAGGG|CTGGGCTCACAAGCTGGGCAGTGCCAGGCAAGATGGGCATATGCCCTTGATTACTACCAGGACCGCAGGCCAAGCCTCCACAGCCTCCACGGCCTCATAAATCAGTTTTTAAGTAGCAACCACATGGACATTTCCCAGCCGAGAGGCCTGGCCTCTGTcGGTGCAGCTAGGGCAGCCCTGGTGGAGGGGCAGGTGCCAGGCCAGGGCACCAAAGAGAGAGGGGTGGTCATTGAGGTTTGGCGGGAAGTGAGGCTGGAGCTTCTTCAAGTAAAACCTGGGGCAGGGGCTCCTGCCAATAGAGACTAGGTAAGAAAGTGGCAAGTGGCTGGCAGTGGGTCCAGGACTCCCTGCTGGGTCCCCCAGACCCTGTGCTGGATTTCCCCGGTGAAGCTGCTTACAGAGGAGGGGGAGCGTGTTGCTACTGGAACTCCTTCCCTCCAGCTCCC . 09BR005 ENSG00000108256.9 ENSG00000132589.16 -/- -/- chr17:29285992 chr17:28889026 CDS/splice-site CDS/splice-site deletion/read-through 134 154 10 1166 982 high in-frame . |Flotillin(100%),SPFH_domain_/_Band_7_family(100%) . . ENSG00000108256.9 ENSG00000132589.16 ENST00000225388.9 ENST00000394908.9 upstream downstream duplicates(18),low_entropy(1),mismatches(11) ^(AGATATACTGAGTGAGCCCTGAGAAGCAGTCTCAGATCCTGACGGTGCAGCAGCCCGCAGCCTCAGCCAGGGAGTCCCAGCCGCTTTCAATGGAGGAGAAGCCCGGCCAGCCACAGCCTCAGCACCATCACAGCCACCACCATCCGCACCATCACCCTCAGCAGCAGCAGCAGCAGCCGCACCACCACCACCATTATTATTTCTACAACCACAGCCACAACCACCACCACCACCATCATCACCAGCAGCCTCACCAATACCTGCAGCATGGAGCCGAGGGCAGCCCCAAGGCCCAGCCAAAGCCGCTGAAACATGAGCAGAAACACACCCTCCAGCAGCACCAGGAAACGCCGAAGAAGAAAACAG___GCTATGGTGAACTAAACGGTAATGCTGGAGAAAGAGAAATATCTTTAAAGAACCTGAGTTCTGATGAAGCCACCAACCCTATTTCCAGGGTCCTCAATGGCAACCAGCAAGTTGTAGACACTAGCCTGAAGCAGACTGTAAAGGCCAACACCTTTGGGAAAGCAGGAATTAAAACCAAGAATTTCATTCAGAAAAACAGTATGGACAAAAAGAATGGGAAGTCTTATGAAAATAAATCTGGAGAGAATCAGTCTGTAGATAAGTCTGATACTATACCAATTCCAAATGGTGTGGTAACAAATAATTCTGGTTATATTACTAATGGTTATATGGGTAAAGGAGCAGATAATGATGGTAGTGGATCTGAGAGCGGATATACAACTCCTAAAAAAAGGAAAGCTAGGCGCAATAGTGCCAAGGGTTGTGAAAACCTTAATATAGTGCAGGACAAAATAATGCAACAAGAGACCAGTGTCCCAACCTTAAAACAGGGACTTGAAACTTTCAAGCCTGACTATAGTGAACAAAAGGGAAATCGAGTAGATGGTTCGAAGCCCATTTGGAAGTATGAAACTGGGCCTGGAGGAACAAGTCGAGGAAAACCTGCTGTGGGTGATATGCTTCGGAAAAGCTCAGATAGTAAACCTGGTGTGAGCAGCAAAAAGTTTGATGATCGGCCCAAAGGAAAGCATGCTTCAGCTGTTGCCTCCAAAGAGGACTCGTGGACCCTATTTAAACCACCCCCAGTTTTTCCAGTGGACAATAGCAGTGCTAAAATAGTTCCTAAAATAAGTTATGCAAGCAAAGTTAAGGAAAACCTCAACAAAACTATACAGAACTCTTCTGTGTCACCAACTTCATCTTCATCATCTTCATCATCTACCGGGGAAACTCAGACCCAATCATCAAGTCGCTTATCCCAGGTCCCTATGTCAGCGCTGAAATCTGTTACTTCTGCCAACTTTTCTAATGGGCCTGTTTTAGCAGGGACTGATGGAAATGTTTATCCTCCAGGGGGTCAGCCACTGCTAACTACTGCTGCTAATACTCTAACACCCATCTCTTCTGGGACAGATTCAGTTCTCCAGGACATGAGTCTAACTTCAGCAGCTGTTGAACAAATTAAGACTAGCCTTTTTATCTATCCTTCAAATATGCAAACTATGCTGTTGAGCACAGCACAAGTGGATCTGCCCTCTCAGACAGATCAGCAAAACCTGGGGGATATCTTCCAGAATCAGTGGGGTTTATCATTTATAAATGAGCCCAGTGCTGGCCCTGAGACTGTTACTGGGAAGTCATCAGAGCATAAAGTGATGGAGGTGACATTTCAAGGAGAATATCCTGCTACTTTGGTTTCACAGGGTGCTGAAATAATTCCCTCAGGAACTG)AGCATCCTGTGTTTCCCAAGGCTTACGAGCTGGAGAAACGGACTAGTCCTCAAGTTCTGGGTAGCATTCTAAAATCTGGGACTACTAGTGAGAGTGGAGCCTTATCCTTGGAACCCAGTCATATAGGTGACCTGCAGAAAGCAGACACCAGTAGTCAAGGTGCTTTAGTGTTTCTCTCAAAGGACTACGAGATAGAAAGTCAAAATCCTCTGGCCTCTCCTACGAACACTTTGTTAGGCTCTGCCAAAGAACAGAGATACCAGAGAGGCCTAGAAAGGAATGATAGCTGGGGTTCTTTTGACCTGAGGGCTGCTATTGTATATCACACTAAAG|GGGGCTGTTGTGGTTCCGACTATAAACAGTACGTGTTTGGCGGCTGGGCCTGGGCCTGGTGGTGTATCTCCGACACTCAGAG___GATTTCCCTAGAGATTATGACGTTGCAGCCCCGCTGCGAGGACGTAGAGACGGCCGAGGGGGTAGCTTTAACTGTGACGGGTGTCGCCCAG___GTGAAGATCATGACGGAGAAGGAACTCCTGGCCGTGGCTTGTGAGCAGTTTCTGGGTAAGAATGTGCAGGACATCAAAAACGTCGTCCTGCAGACCCTGGAGGGACATCTGCGCTCCATCCTCG___GGACCCTGACAGTGGAGCAGATTTATCAGGACCG(GGACCAGTTTGCCAAGCTGGTGCGGGAGGTGGCAGCCCCTGATGTTGGCCGCATGGGCATTGAGATCCTCAGCTTCACCATCAAG___GACGTGTATGACAAAGTGGACTATCTGAGCTCCCTGGGCAAGACGCAGACTGCCGTGGTGCAGAGAGATGCTGACATTGGCGTGGCCGAGGCTGAACGGGACGCAGGCATCCGG___GAAGCTGAGTGCAAGAAGGAGATGCTGGATGTGAAGTTCATGGCAGACACCAAGATTGCTGACTCTAAGCGAGCCTTCGAGCTGCAAAAGTCAGCCTTCAGTGAGGAGGTTAACATCAAG___ACAGCTGAGGCCCAGTTGGCCTATGAGCTGCAGGGGGCCCGTGAACAGCAGAAGATCCGGCAGGAAGAGATTGAGATTGAGGTTGTGCAGCGCAAGAAACAGATTGCCGTGGAGGCACAGGAGATCCTGCGTACGGACAAGGAGCTCATCGCTACAGTGCGCCGGCCTGCCGAGGCCGAGGCCCACCGCATCCAGCAGATTGCCGAGGGTGAAAA___GGTGAAGCAGGTCCTCTTGGCACAGGCAGAGGCTGAGAAGATCCGCAAAATCGGGGAGGCGGAAGCGGCAGTCATCGAGGCGATGGGCAAGGCAGAGGCTGAGCGGATGAAGCTCAAGGCAGAAGCCTACCAGAAATACGGGGATGCAGCCAAGATGGCCTTGGTGCTAGAGGCCCTGCCCCAG___ATTGCTGCCAAAATCGCTGCCCCACTTACCAAGGTCGATGAGATTGTGGTCCTCAGTGGAGACAACAGTAAGGTCACATCAGAAGTGAACCGACTGCTGGCCGAGCTGCCTGCCTCTGTGCATGCCCTCACAGGCGTGGACCTGTCTAAG___ATACCCCTGATCAAGAAGGCCACTGGTGTGCAGGTGTGAGGCTCCTGCAGGCCCACTCTCTTCAGCAGCCACCCGGCCCTCCCTCCAGCACCCGTTTTAATCCCACAGAACAACGGGAACGTTACTGACTCTGGTGCCTTATCTCGAAGGGACCAGAAGTGCTGCGTGTTCAGGCCATCTCTGGCTGTCTTCCTGTCTCTCCTGTCTGTCCACCTCCTCCTCTTCCTCTCCTTTACCCCACTTTCACTGCCACTTTCATCAGGTTTGTGTCTCATCTCCCTGCGTGTCTTTTCCTTTGTCTGTCTTTTTCTTTCCCCCATGCACATCATGTAGATTAAGCTGAAGATGTTTATTACAATCACTCTCTGTGGGGGGTGGCCCTGCTGCTCCTCAGAATCCTGGTGCCTTGAAGTTCTCTGTGCATCTGTCCATCCTCCCTATGGCCCTGGCCAGAGCTCAGCATGGGCAGGGGTTCTGGGTAGGACGGTCACTGTCCTCTCTCCTGGACTGGTCTTCCCAGCCCTAAACCCTGCCCCAGGAAGCCCACAGCCTCACCTGCTGCTGCCCCTCTAGGTCTGGGCAGCCATGACCTGCAGGGCCCAGAGACACTGTCCTTCCCCTCATCCACCCAAGGCCCCAGCCAGCGCTCATACCCTGTCCTTTCTCCCTGACCCCAAGGGCACAGAGGCAAGGCCTCCTGTCTACAGCAGCTTCCTCAGTTTCCTACTGCCTTAGGAGGCCCCTGCTTGTGCTCAGGGAAGGCCTCTTCATGGGCATGTTCCTGCTGGGGCGGTGCGGTTTGGTCCCAACTCTGCTAAGTTTTCTGAGATGAGGGTCTAGCCCTGTTGGGGACAGAAAAGTGTGTAGACCTTCTTCCTGCTAGGGCTGCACTGTCCTGGGTGTTGGGCCCTTCTGGTGGACAAGGCTGTGCCAACCCTGTACAGAATCGAGTGCTGTAGCCTGGCCAGACCCCAGAGCCCTTGTGCCATCTTTCTTCCTGGCCAGAGTGATGGGGTTCCAGCCATGGGGAAGCAACCCAATCCTCTGTCTCCTTGCTCCAATGGAGGCAGAAGAGCCCAGGACCCAAGCGTCTTGGCAGGGGTGCTGTGAATGTCCAGTGGTCCCAGCTCCCCACCCTGGCCCTGCCCCAGCCTGTGTAGCTCTTCCTGCATGTGGATGCTGCATGTCTGGTCTGGGGCTTGGATGTTGCACTGCCCCACTGCCTGTCCCTTCTGGTAAAATAAAGAACTCTTAATGCCCA)$ MEEKPGQPQPQHHHSHHHPHHHPQQQQQQPHHHHHYYFYNHSHNHHHHHHHQQPHQYLQHGAEGSPKAQPKPLKHEQKHTLQQHQETPKKKTGYGELNGNAGEREISLKNLSSDEATNPISRVLNGNQQVVDTSLKQTVKANTFGKAGIKTKNFIQKNSMDKKNGKSYENKSGENQSVDKSDTIPIPNGVVTNNSGYITNGYMGKGADNDGSGSESGYTTPKKRKARRNSAKGCENLNIVQDKIMQQETSVPTLKQGLETFKPDYSEQKGNRVDGSKPIWKYETGPGGTSRGKPAVGDMLRKSSDSKPGVSSKKFDDRPKGKHASAVASKEDSWTLFKPPPVFPVDNSSAKIVPKISYASKVKENLNKTIQNSSVSPTSSSSSSSSTGETQTQSSSRLSQVPMSALKSVTSANFSNGPVLAGTDGNVYPPGGQPLLTTAANTLTPISSGTDSVLQDMSLTSAAVEQIKTSLFIYPSNMQTMLLSTAQVDLPSQTDQQNLGDIFQNQWGLSFINEPSAGPETVTGKSSEHKVMEVTFQGEYPATLVSQGAEIIPSGTEHPVFPKAYELEKRTSPQVLGSILKSGTTSESGALSLEPSHIGDLQKADTSSQGALVFLSKDYEIESQNPLASPTNTLLGSAKEQRYQRGLERNDSWGSFDLRAAIVYHTK|gGCCGSDYKQYVFGGWAWAWWCISDTQRISLEIMTLQPRCEDVETAEGVALTVTGVAQVKIMTEKELLAVACEQFLGKNVQDIKNVVLQTLEGHLRSILGTLTVEQIYQDRDQFAKLVREVAAPDVGRMGIEILSFTIKDVYDKVDYLSSLGKTQTAVVQRDADIGVAEAERDAGIREAECKKEMLDVKFMADTKIADSKRAFELQKSAFSEEVNIKTAEAQLAYELQGAREQQKIRQEEIEIEVVQRKKQIAVEAQEILRTDKELIATVRRPAEAEAHRIQQIAEGEKVKQVLLAQAEAEKIRKIGEAEAAVIEAMGKAEAERMKLKAEAYQKYGDAAKMALVLEALPQIAAKIAAPLTKVDEIVVLSGDNSKVTSEVNRLLAELPASVHALTGVDLSKIPLIKKATGVQV* 09BR005 ENSG00000171475.14 ENSG00000006125.18 +/+ +/+ chr17:40219492 chr17:35674176 5'UTR/splice-site CDS/splice-site duplication 18 245 0 320 577 high . . |Adaptin_C-terminal_domain(100%),Beta2-adaptin_appendage__C-terminal_sub-domain(100%) . . ENSG00000171475.14 ENSG00000006125.18 ENST00000323571.9 ENST00000621914.4 downstream upstream duplicates(23) ^(ATTTTGTTCGCGGACGCTGGGGACGGTGGGAGCAGATCCATTTCCGGGTTGGCAAAAGGGGCGGT)GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGACGGCGAGAAAGAGCTTGCCGGGGGGCGAGCAGGACAGGACGAAGCCGGAGTGTAGGCGGCAGAGGATTCGCTCCCAGAGCAGCTGCGGCCAG|GTCTGGCTACCTGCAGTAAAGGCTAAAGGCTTGGAGATTTCCGGAACATTTACTCACCGCCAAGGGCACATCTATATGGAAATGAACTTCACCAATAAAGCTCTGCAGCACATGACAGATTTTGCAATCCAGTTTAACAAAAATAG___CTTTGGTGTCATCCCCAGCACTCCTCTGGCCATCCATACACCACTGATGCCAAACCAGAGCATTGATGTCTCCCTGCCTCTCAATACCTTGGGCCCAGTCATGAAGATGGAACCTCTGAATAACCTCCAG___GTGGCTGTGAAAAACAATATCGATGTCTTCTACTTCAGCTGCCTCATCCCACTCAATGTGCTTTTTGTAGAAGATGGCAAAATGG___AGCGCCAGG(TCTTCCTTGCAACATGGAAGGATATTCCCAATGAAAATGAACTTCAGTTTCAGATTAAGGAATGTCATTTAAATGCTG___ACACTGTTTCCAGCAAGTTGCAAAACAACAATGTTTATACTATTGCCAAGAGGAATGTGGAAGGGCAGGACATGCTGTACCAATCCCTGAAGCTCACTAATGGCATTTGGATTTTGGCCGAACTACGTATCCAGCCAGGAAACCCCAATTACACG___CTGTCACTGAAGTGTAGAGCTCCTGAAGTCTCTCAATACATCTATCAGGTCTACGACAGCATTTTGAAAAACTAACAAGACTGGTCCAGTACCCTTCAACCATGCTGTGATCGGTGCAAGTCAAGAACTCTTAACTGGAAGAAATTGTATTGCTGCGTAGAATCTGAACACACTGAGGCCACCTAGCAAGGTAGTAACTAGTCTAACCTGTGCTAACATTAGGGCACAACCTGTTGGATAGTTTTAGCTTCCTGTGAACATTTGTAACCACTGCTTCAGTCACCTCCCACCTCTTGCCACCTGCTGCTGCTATCTGTCCTTACTTGTGGGCTTCTCCATGCTGTGCCAATGGCTGGCTTTTTCTACACCCTCTTTTGAGTGTAGTTTGGTATTTTGTAATTGAGAGCTCATTTCAAAAGCAGAAAAAGACAACAAATATTAAAGCAAGGAAAAGTGTAACTGAAACACTGCACTTTACTGTTTTATACTTTTGTACATATGAGAAATCAAGGGATTAGTGCAACCAGTAGAAAGCATTGAAATGACTGTCATTAACCACACAGTCCTGGAGGCAGAGATGCAGTTACCTACCCTAGCTTTTGATGGGTTCTCTTACCTGTAGTAGCCTTATCCCTGGTCATTTGGATTTTCAGTTTGCTTTTTTCTTTTTTTCCCCTCCAAACTCCTTTTCCTTGGCCAAGCCTTCATGCTTCCCCCTTTCCATATTATAATCTCATTTGATTGCTCTGCAGTTGGGAACGGTGATCTTCTTGAATGATGTTTCAGTGTGCAAAAACTATAGAGCCTGTCAGCACCAAAGCTGACAGAAGTTATACCTTACTCCTTTCCTTTCCCCTGAACAAACCTGCTAATCCCACTAATTCAGGAATTTGAGTAGAGATGGGGAACAAGAACCCAGATGCTGTCCCCTCACCCCCTCTCCTGTATTTCTCAGGTCCAGTTCAAATCTAAAATTCTACTTTTAGAGTTGAAACAGAGTAATAACTTATCTAACCCTCTTTTCCTACAAAGGAGAAAGATAAAAGGCACAAAGGTTACCGCCAAGGCCCGTCAGCTGTGTAGTGGCAAAGCCGAGACCGAGTCTCCTAAGTCCCCGTCAGTGTGGTTTTCACCACAGGACTGTCTCTTGTCGTTTTCCCCTAATGCCTTCTCCTGCCTTTTCTGTGCCTAGTTTTTGGCTCTTCACATATTCCATATTGATTTTGACGCTCTGTATATTGGCATCAGGTGGCAGCTGAATATCTTTTGAATTACTCGAAGGTAAAGCCAGATGCCAGAATGAAGGTGTAGCCAGTGTTTCCCATATGCCCCTGGAGCCCCACTTATTGAGGCCAGCAGAATAGGTGCAGAGATGAAGTGAGCTTAGAGATGTTGCAAATGCTCTTTATCCCTTCAGCTCTCTGATCTGCTCTTTCTTCATGATACTTAGTCTGCAGGGCATATTAAGATCATCCCAGAGGTTCAGGCAGTTCCTGTCATCTCTGAAAAGACTGGGGGATATGAAATCTTCCCCCTACCCCACTTAATGCGTTGGATATGATTTTTCAAAGAATGCTTCATGCCCAAAATACCAGCCTGTTTAGCAGTGTTACACTGTTTGATCTGCGGGCACTTGTTGCATTGCCTGGCACCCAATATTCAGGGTCCATGACTAAGACTGGTCTTCTCAGATGCCCTGCTTAAATCAGGGGCACTTCAGGCTCCACAGGCGTCATGTTGGACTGAGACCTAACTCACTGGACTCAGAGGAGGAATCGTGGAAAACAAGAGCAAAACTACCCCACACCCCTATTTCATGTCTGAAATAACCCTGTTTCATACCAGTTGCAAAGCTTGTGGGGAGCGGTCCCACAAAGCACTTTCTTAAACCTTGAGAATCTCCAAGAGAAAAATATTTGGGGAAGGAGGGAGGAAATATGTCCCTTGCACACCACCCCTGAAGCACATGGCAGTAGGAAACAGCATAGGATTGTATGTGGGAGGTGGATAGGTCGGTGATGTGTGGAGCGGAAAAGCAGGTTGGTAAAGTTCCCTTCTTGGGACTTATTCCTGGAGTCAGTGGATACAAGTAGTGCAGAAGGTTCACACTGCAAATAGTGTTCTCATCTCAAAGCAAACTATCATTCCAGAAGGAAAAGTGTGTCAGGGCAAGCAGACAACACAATTTCCTATCAGAATATGTCCCTCAACCCCCGAAACAAGGCTTCTCTCAGCCTCCCCACCAGTGATGGATAACAGCTCCTATTCTCAGCTGACCTGACTGAGCCAACCCATGAACTCTTCACTCCTTGGGGAAGCCACCTCCCATCACACCCCTGAGCAGAGTTAGGGAGGAATTCTACTTCCCATAAAAGGACCTCTCCTGAGAGGCAAAACCTGTTGCCTCCACCACGGCTTCCCTCTTGGCTCATTCCAAGCTTGGCCAAATTGGGGAAGTGGGATGGAGGTTGCCCTGCATCCCCCCTCCTCTGCCTGAGTGTGTCTTTGTAATGTCAGCTGGCATCATACAAAGAGCAGGAGAAGCAAACACCCAGAACTCTTTTGCTGGTCAGAGATTCCCTGAGTGTCTGTCCTCACCCAAGCCTGCTCTGTGTCTGTGTTGTGAAGCTTGAGACTCTGGAAAGAAATGGGGAGGGGGGGCAGGGGAAATGTTGCCCTAAGAATGCTTCTCATTCCTCTGTTCTTATTGGGTCCTGTTTTTCGGGAGGGTGGGGGTTGGGGGAAGCTTGACCTTGTGTCTTCGTCAATAAACTCACATTTACAC)$ . 09BR005 ENSG00000171475.14 ENSG00000006125.18 +/+ +/+ chr17:40219517 chr17:35674176 5'UTR/splice-site CDS/splice-site duplication 2 5 0 332 577 high . . |Adaptin_C-terminal_domain(100%),Beta2-adaptin_appendage__C-terminal_sub-domain(100%) . . ENSG00000171475.14 ENSG00000006125.18 ENST00000585043.5 ENST00000621914.4 downstream upstream duplicates(2) ^(GGGTTGGCAAAAGGGGCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGACGGCGA)GAAAGAGCTTGCCGGGGGGCGAGCAGGACAGGACGAAGCCGGAGTGTAGGCGGCAGAGGATTCGCTCCCAGAGCAGCTGCGGCCAGGTCGGAAAGAGGCCGGGGCGGCTGG|GTCTGGCTACCTGCAGTAAAGGCTAAAGGCTTGGAGATTTCCGGAACATTTACTCACCGCCAAGGGCACATCTATATGGAAATGAACTTCACCAATAAAGCTCTGCAGCACATGACAGATTTTGCAATCCAGTTTAACAAAAATAG(___CTTTGGTGTCATCCCCAGCACTCCTCTGGCCATCCATACACCACTGATGCCAAACCAGAGCATTGATGTCTCCCTGCCTCTCAATACCTTGGGCCCAGTCATGAAGATGGAACCTCTGAATAACCTCCAG___GTGGCTGTGAAAAACAATATCGATGTCTTCTACTTCAGCTGCCTCATCCCACTCAATGTGCTTTTTGTAGAAGATGGCAAAATGG___AGCGCCAGGTCTTCCTTGCAACATGGAAGGATATTCCCAATGAAAATGAACTTCAGTTTCAGATTAAGGAATGTCATTTAAATGCTG___ACACTGTTTCCAGCAAGTTGCAAAACAACAATGTTTATACTATTGCCAAGAGGAATGTGGAAGGGCAGGACATGCTGTACCAATCCCTGAAGCTCACTAATGGCATTTGGATTTTGGCCGAACTACGTATCCAGCCAGGAAACCCCAATTACACG___CTGTCACTGAAGTGTAGAGCTCCTGAAGTCTCTCAATACATCTATCAGGTCTACGACAGCATTTTGAAAAACTAACAAGACTGGTCCAGTACCCTTCAACCATGCTGTGATCGGTGCAAGTCAAGAACTCTTAACTGGAAGAAATTGTATTGCTGCGTAGAATCTGAACACACTGAGGCCACCTAGCAAGGTAGTAACTAGTCTAACCTGTGCTAACATTAGGGCACAACCTGTTGGATAGTTTTAGCTTCCTGTGAACATTTGTAACCACTGCTTCAGTCACCTCCCACCTCTTGCCACCTGCTGCTGCTATCTGTCCTTACTTGTGGGCTTCTCCATGCTGTGCCAATGGCTGGCTTTTTCTACACCCTCTTTTGAGTGTAGTTTGGTATTTTGTAATTGAGAGCTCATTTCAAAAGCAGAAAAAGACAACAAATATTAAAGCAAGGAAAAGTGTAACTGAAACACTGCACTTTACTGTTTTATACTTTTGTACATATGAGAAATCAAGGGATTAGTGCAACCAGTAGAAAGCATTGAAATGACTGTCATTAACCACACAGTCCTGGAGGCAGAGATGCAGTTACCTACCCTAGCTTTTGATGGGTTCTCTTACCTGTAGTAGCCTTATCCCTGGTCATTTGGATTTTCAGTTTGCTTTTTTCTTTTTTTCCCCTCCAAACTCCTTTTCCTTGGCCAAGCCTTCATGCTTCCCCCTTTCCATATTATAATCTCATTTGATTGCTCTGCAGTTGGGAACGGTGATCTTCTTGAATGATGTTTCAGTGTGCAAAAACTATAGAGCCTGTCAGCACCAAAGCTGACAGAAGTTATACCTTACTCCTTTCCTTTCCCCTGAACAAACCTGCTAATCCCACTAATTCAGGAATTTGAGTAGAGATGGGGAACAAGAACCCAGATGCTGTCCCCTCACCCCCTCTCCTGTATTTCTCAGGTCCAGTTCAAATCTAAAATTCTACTTTTAGAGTTGAAACAGAGTAATAACTTATCTAACCCTCTTTTCCTACAAAGGAGAAAGATAAAAGGCACAAAGGTTACCGCCAAGGCCCGTCAGCTGTGTAGTGGCAAAGCCGAGACCGAGTCTCCTAAGTCCCCGTCAGTGTGGTTTTCACCACAGGACTGTCTCTTGTCGTTTTCCCCTAATGCCTTCTCCTGCCTTTTCTGTGCCTAGTTTTTGGCTCTTCACATATTCCATATTGATTTTGACGCTCTGTATATTGGCATCAGGTGGCAGCTGAATATCTTTTGAATTACTCGAAGGTAAAGCCAGATGCCAGAATGAAGGTGTAGCCAGTGTTTCCCATATGCCCCTGGAGCCCCACTTATTGAGGCCAGCAGAATAGGTGCAGAGATGAAGTGAGCTTAGAGATGTTGCAAATGCTCTTTATCCCTTCAGCTCTCTGATCTGCTCTTTCTTCATGATACTTAGTCTGCAGGGCATATTAAGATCATCCCAGAGGTTCAGGCAGTTCCTGTCATCTCTGAAAAGACTGGGGGATATGAAATCTTCCCCCTACCCCACTTAATGCGTTGGATATGATTTTTCAAAGAATGCTTCATGCCCAAAATACCAGCCTGTTTAGCAGTGTTACACTGTTTGATCTGCGGGCACTTGTTGCATTGCCTGGCACCCAATATTCAGGGTCCATGACTAAGACTGGTCTTCTCAGATGCCCTGCTTAAATCAGGGGCACTTCAGGCTCCACAGGCGTCATGTTGGACTGAGACCTAACTCACTGGACTCAGAGGAGGAATCGTGGAAAACAAGAGCAAAACTACCCCACACCCCTATTTCATGTCTGAAATAACCCTGTTTCATACCAGTTGCAAAGCTTGTGGGGAGCGGTCCCACAAAGCACTTTCTTAAACCTTGAGAATCTCCAAGAGAAAAATATTTGGGGAAGGAGGGAGGAAATATGTCCCTTGCACACCACCCCTGAAGCACATGGCAGTAGGAAACAGCATAGGATTGTATGTGGGAGGTGGATAGGTCGGTGATGTGTGGAGCGGAAAAGCAGGTTGGTAAAGTTCCCTTCTTGGGACTTATTCCTGGAGTCAGTGGATACAAGTAGTGCAGAAGGTTCACACTGCAAATAGTGTTCTCATCTCAAAGCAAACTATCATTCCAGAAGGAAAAGTGTGTCAGGGCAAGCAGACAACACAATTTCCTATCAGAATATGTCCCTCAACCCCCGAAACAAGGCTTCTCTCAGCCTCCCCACCAGTGATGGATAACAGCTCCTATTCTCAGCTGACCTGACTGAGCCAACCCATGAACTCTTCACTCCTTGGGGAAGCCACCTCCCATCACACCCCTGAGCAGAGTTAGGGAGGAATTCTACTTCCCATAAAAGGACCTCTCCTGAGAGGCAAAACCTGTTGCCTCCACCACGGCTTCCCTCTTGGCTCATTCCAAGCTTGGCCAAATTGGGGAAGTGGGATGGAGGTTGCCCTGCATCCCCCCTCCTCTGCCTGAGTGTGTCTTTGTAATGTCAGCTGGCATCATACAAAGAGCAGGAGAAGCAAACACCCAGAACTCTTTTGCTGGTCAGAGATTCCCTGAGTGTCTGTCCTCACCCAAGCCTGCTCTGTGTCTGTGTTGTGAAGCTTGAGACTCTGGAAAGAAATGGGGAGGGGGGGCAGGGGAAATGTTGCCCTAAGAATGCTTCTCATTCCTCTGTTCTTATTGGGTCCTGTTTTTCGGGAGGGTGGGGGTTGGGGGAAGCTTGACCTTGTGTCTTCGTCAATAAACTCACATTTACAC)$ . 09BR005 ENSG00000128487.16 ENSG00000270806.2 +/+ +/+ chr17:20247319 chr17:35764007 CDS/splice-site CDS/splice-site deletion 40 19 4 198 191 high out-of-frame . . . . ENSG00000128487.16 ENSG00000270806.2 ENST00000395527.8 ENST00000605587.2 downstream upstream duplicates(1),inconsistently_clipped(1),mismatches(2) ^(ATCAGTGAGCGCCCGGAGCCGTGGCCGCTGGGGGTTGCGGCGGCGCTGAGCCAGCGGGGCCG___GACAGACCCACGAAGTCAAGCATGCGGAGTGCAGCCAAGCCCTGGAACCCAGCCATCAGAGCAGGGGGCCACGGCCCAGACCGGGTGCGGCCTCTGCCTGCAGCCTCTTCCGGCATGAAGAGTTCTAAGTCTTCAACTTCCTTGGCTTTTGAGTCCCGACTCAGCAGG___CTCAAGAGGGCCAGCAGTGAGGACACGCTCAACAAGCCAGGAAGTACCGCTGCATCGGGGGTGGTTCGCCTGAAGAAGACCGCCACTGCCGGAGCCATCTCGGAGCTCACGGAGAGCCGCCTGAGGAGCGGCACAG___GGGCCTTTACAACAACTAAACGGACAGGCATTCCAGCCCCACGGGAATTTTCAGTAACTGTCTCAAGAGAGAGGTCTGTGCCACGTGGTCCCTCCAACCCCAGGAAATCAGTGTCCAGTCCAACTTCTTCCAACACTCCCACTCCTACGAAACACCTGAGGACCCCTTCCACAAAGCCCAAGCAAGAGAATGAAGGTGGAGAAAAGGCTGCGCTTGAGTCCCAAGTTCGGGAACTTTTGGCAGAAGCCAAAGCAAAAGATAGTGAAATTAACAGGCTTCGAAGTGAACTAAAGAAATACAAAGAGAAAAGGACTCTGAACGCTGAGGGGACTGATGCTTTGGGCCCAAATGTCGATGGAACATCAGTCTCCCCAGGTGACACGGAACCTATGATAAGAGCTCTTGAGGAGAAGAACAAGAACTTTCAGAAAGAGCTTTCCGATCTAGAGGAAGAAAACCGGGTCCTGAAGGAGAAACTGATCTATCTTGAGCACTCCCCAAATTCAGAAGGGGCAGCAAGTCACACTGGCGACAGCAGCTGCCCAACATCCATAACTCAAGAGTCAAGCTTCGGAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAGTATAAAAAAAACATACATGGAAATGCATTACGGACATCAGGCTCCTCAAGTAGCGATGTTACCAAAGCTTCTTTGTCGCCAGATGCTTCCGACTTTGAGCACATTACAGCAGAGACACCCTCAAGGCCCCTGTCCTCCACCAGTAACCCCTTTAAGAGTTCAAAGTGTTCTACTGCTGGGAGTTCCCCAAACAGCGTAAGTGAATTGTCCCTGGCTTCCCTCACAGAGAAGATACAAAAGATGGAAGAAAACCACCATAGCACTGCAGAAGAACTACAGGCTACTCTACAAGAATTATCAGACCAGCAACAAATGGTACAGGAATTGACAGCTGAAAATGAGAAGCTGGTGGATGAAAAGACGATTTTAGAGACATCCTTTCATCAGCATCGAGAGAGGGCAGAGCAGCTAAGTCAAGAAAATGAGAAGCTGATGAATCTTTTACAAGAGCGAGTAAAGAATGAAGAGCCCACCACTCAGGAAGGAAAAATTATTGAACTGGAGCAGAAGTGCACAGGTATTCTTGAACAGGGCCGCTTTGAAAGAGAGAAGCTACTCAACATTCAGCAGCAGTTGACCTGTAGCTTGCGGAAGGTTGAGGAAGAAAACCAAGGAGCTTTAGAAATGATTAAACGTCTGAAGGAAGAAAATGAAAAACTGAATGAGTTTCTAGAACTGGAACGGCATAATAATAACATGATGGCCAAAACTTTGGAAGAGTGTAGAGTTACCTTGGAAGGGCTAAAAATGGAGAATGGATCTTTGAAGTCTCATTTGCAGGGTGAGAAGCAGAAAGCCACAGAGGCCAGTGCTGTGGAGCAGACGGCAGAGAGCTGCGAAGTTCAAGAAATGTTGAAAGTAGCCCGAGCAGAGAAAGATCTACTGGAACTGTCTTGCAATGAGCTCAGACAAGAATTACTAAAGGCAAACGGTGAAATTAAACATGTTTCCAGTCTGCTGGCCAAG___GTGGAAAAGGATTATTCATACCTGAAGGAGATATGTGATCACCAAGCCGAACAGCTGAGCAGAACCAGCCTAAAGCTGCAAGAAAAAGCATCAGAGAGTGATGCAGAGATCAAAGACATGAAAGAAACCATATTTGAATTGGAAGATCAGGTGGAACAGCACCGGGCTGTCAAGTTACACAATAATCAACTCATCAGTGAGCTAGAAA___GTAGTGTGATCAAGCTGGAGGAACAGAAGTCAGACCTGGAGAGGCAGCTGAAGACTCTGACCAAGCAGATGAAG___GAGGAGACCGAGGAATGGAGGCGGTTCCAGGCGGATCTGCAGACCGCAGTGGTGGTGGCCAATGACATCAAGTGTGAGGCCCAGCAGGAGCTGCGCACCGTGAAGAGGAAACTGCTGGAGGAGGAGGAGAAGAATGCCCGGTTGCAGAAGGAGCTGGGGGATGTGCAGGGCCACGGCAGGGTGGTCACCAGCAGAGCCGCCCCTCC___)ACCTGTGGATGAAGAGCCAGAGTCCTCTGAGGTCGATGCTGCTGGTCGGTGGCCTGGTGTCTGTGTTAGCAGAACATCTCCAACACCCCCAGAGTCGGCAACCACCGTTAAGTCACTTATCAAGTCATTTGACTTGGGACGCCCAG___GTGGAGCTGGACAGAATATTTCTGTCCATAAGACCCCCAGAAGTCCCCTAAGTGGGATACCAGTGAGGACTGCTCCAGCAGCTGCTGTCTCTCCAATGCAG|GTGTGAAGACCCCCTTGTGGAAGAAGGAAACGGAAGAGCTCCGGGCCGAGGACGCGGAGCAAGAGGAAGGGAAGGAGGGGTCGGAGGACGAGGACGAGGACAACCAGAGGCCGCTGGAGGACAGCGCGACGGAGGGCGAGGAGCCGCCGCGGGTAGCGGAGGAGGGCGAAGGCCGCGAGCGGCGCTCAGTGTCCTACTGCCCGCTGCGCCAGGAGTCCAG(CACCCAGCAGGTGGCGCTGCTGCGGCGCGCGGACAGCGGCTTCTGGGGCTGGCTCGGCCCCTTAGCGCTGCTGGGCGGCCTAACAGCTCCCACCGACAG___GAAGCGGAGCCTCCCGGAGGAGCCGTGCGTGCTGGAGATCCGGCGACGACCGCCGCGCCGCGGGGGCTGTGCTTGCTGCGAGCTCCTCTTCTGCAAGAAATGCAGGAGTCTGCACAGCCACCCAGCCTATGTGGCGCACTGCGTTCTGGATCACCCGGATCTGGGTAAGGCGGGGGCCGCTGGGAACTCCTGAGCGCCCCCGCTCCCAGCCTTTGTGCCCTCCATCATTTCCTGGCCCCAGACCCCCTACCGACCTTCTCTCTTGGAGCGCGGAGCCCTCTTCGACGCATTCCGCAGGACCGCCCCTTCTCAGCTGCTGCCCAGAGCGCCCCCATCCGTCAAGAAGGCCCACTGTTGGTGCTTGGTTCCCATCTGTCACCTAGCGCCCCCAGTGCAGAGCCCAGCATAACCTAGAGCCCGCTGTCAACAGCGCCCACCGAGGGCTCCCCGCCCCCACGCAGCACCAGCGCCACCGCACACCTGACTCTGTCCGCTCACACAGCCTCACCTTCACCTCTTGGGTATTTCAGATCCGCTCTGGCCCAGTGGGCAGAGGCATCGCCTAGAGAAAATAACCTCAGGGTTCCCTCATCCCTCTGACAAACCTGCCTCTTTCCCTGAAACCATTCAATAAAACCTCTGATCAAAGTGTCA)$ MRSAAKPWNPAIRAGGHGPDRVRPLPAASSGMKSSKSSTSLAFESRLSRLKRASSEDTLNKPGSTAASGVVRLKKTATAGAISELTESRLRSGTGAFTTTKRTGIPAPREFSVTVSRERSVPRGPSNPRKSVSSPTSSNTPTPTKHLRTPSTKPKQENEGGEKAALESQVRELLAEAKAKDSEINRLRSELKKYKEKRTLNAEGTDALGPNVDGTSVSPGDTEPMIRALEEKNKNFQKELSDLEEENRVLKEKLIYLEHSPNSEGAASHTGDSSCPTSITQESSFGSPTGNQMSSDIDEYKKNIHGNALRTSGSSSSDVTKASLSPDASDFEHITAETPSRPLSSTSNPFKSSKCSTAGSSPNSVSELSLASLTEKIQKMEENHHSTAEELQATLQELSDQQQMVQELTAENEKLVDEKTILETSFHQHRERAEQLSQENEKLMNLLQERVKNEEPTTQEGKIIELEQKCTGILEQGRFEREKLLNIQQQLTCSLRKVEEENQGALEMIKRLKEENEKLNEFLELERHNNNMMAKTLEECRVTLEGLKMENGSLKSHLQGEKQKATEASAVEQTAESCEVQEMLKVARAEKDLLELSCNELRQELLKANGEIKHVSSLLAKVEKDYSYLKEICDHQAEQLSRTSLKLQEKASESDAEIKDMKETIFELEDQVEQHRAVKLHNNQLISELESSVIKLEEQKSDLERQLKTLTKQMKEETEEWRRFQADLQTAVVVANDIKCEAQQELRTVKRKLLEEEEKNARLQKELGDVQGHGRVVTSRAAPPPVDEEPESSEVDAAGRWPGVCVSRTSPTPPESATTVKSLIKSFDLGRPGGAGQNISVHKTPRSPLSGIPVRTAPAAAVSPMQ|v* 09BR005 ENSG00000128487.16 ENSG00000270806.2 +/+ +/+ chr17:20247319 chr17:35763975 CDS/splice-site CDS/splice-site deletion 1 2 4 198 11 high in-frame . . . . ENSG00000128487.16 ENSG00000270806.2 ENST00000395527.8 ENST00000603305.1 downstream upstream duplicates(1),mismatches(1) ^(ATCAGTGAGCGCCCGGAGCCGTGGCCGCTGGGGGTTGCGGCGGCGCTGAGCCAGCGGGGCCG___GACAGACCCACGAAGTCAAGCATGCGGAGTGCAGCCAAGCCCTGGAACCCAGCCATCAGAGCAGGGGGCCACGGCCCAGACCGGGTGCGGCCTCTGCCTGCAGCCTCTTCCGGCATGAAGAGTTCTAAGTCTTCAACTTCCTTGGCTTTTGAGTCCCGACTCAGCAGG___CTCAAGAGGGCCAGCAGTGAGGACACGCTCAACAAGCCAGGAAGTACCGCTGCATCGGGGGTGGTTCGCCTGAAGAAGACCGCCACTGCCGGAGCCATCTCGGAGCTCACGGAGAGCCGCCTGAGGAGCGGCACAG___GGGCCTTTACAACAACTAAACGGACAGGCATTCCAGCCCCACGGGAATTTTCAGTAACTGTCTCAAGAGAGAGGTCTGTGCCACGTGGTCCCTCCAACCCCAGGAAATCAGTGTCCAGTCCAACTTCTTCCAACACTCCCACTCCTACGAAACACCTGAGGACCCCTTCCACAAAGCCCAAGCAAGAGAATGAAGGTGGAGAAAAGGCTGCGCTTGAGTCCCAAGTTCGGGAACTTTTGGCAGAAGCCAAAGCAAAAGATAGTGAAATTAACAGGCTTCGAAGTGAACTAAAGAAATACAAAGAGAAAAGGACTCTGAACGCTGAGGGGACTGATGCTTTGGGCCCAAATGTCGATGGAACATCAGTCTCCCCAGGTGACACGGAACCTATGATAAGAGCTCTTGAGGAGAAGAACAAGAACTTTCAGAAAGAGCTTTCCGATCTAGAGGAAGAAAACCGGGTCCTGAAGGAGAAACTGATCTATCTTGAGCACTCCCCAAATTCAGAAGGGGCAGCAAGTCACACTGGCGACAGCAGCTGCCCAACATCCATAACTCAAGAGTCAAGCTTCGGAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAGTATAAAAAAAACATACATGGAAATGCATTACGGACATCAGGCTCCTCAAGTAGCGATGTTACCAAAGCTTCTTTGTCGCCAGATGCTTCCGACTTTGAGCACATTACAGCAGAGACACCCTCAAGGCCCCTGTCCTCCACCAGTAACCCCTTTAAGAGTTCAAAGTGTTCTACTGCTGGGAGTTCCCCAAACAGCGTAAGTGAATTGTCCCTGGCTTCCCTCACAGAGAAGATACAAAAGATGGAAGAAAACCACCATAGCACTGCAGAAGAACTACAGGCTACTCTACAAGAATTATCAGACCAGCAACAAATGGTACAGGAATTGACAGCTGAAAATGAGAAGCTGGTGGATGAAAAGACGATTTTAGAGACATCCTTTCATCAGCATCGAGAGAGGGCAGAGCAGCTAAGTCAAGAAAATGAGAAGCTGATGAATCTTTTACAAGAGCGAGTAAAGAATGAAGAGCCCACCACTCAGGAAGGAAAAATTATTGAACTGGAGCAGAAGTGCACAGGTATTCTTGAACAGGGCCGCTTTGAAAGAGAGAAGCTACTCAACATTCAGCAGCAGTTGACCTGTAGCTTGCGGAAGGTTGAGGAAGAAAACCAAGGAGCTTTAGAAATGATTAAACGTCTGAAGGAAGAAAATGAAAAACTGAATGAGTTTCTAGAACTGGAACGGCATAATAATAACATGATGGCCAAAACTTTGGAAGAGTGTAGAGTTACCTTGGAAGGGCTAAAAATGGAGAATGGATCTTTGAAGTCTCATTTGCAGGGTGAGAAGCAGAAAGCCACAGAGGCCAGTGCTGTGGAGCAGACGGCAGAGAGCTGCGAAGTTCAAGAAATGTTGAAAGTAGCCCGAGCAGAGAAAGATCTACTGGAACTGTCTTGCAATGAGCTCAGACAAGAATTACTAAAGGCAAACGGTGAAATTAAACATGTTTCCAGTCTGCTGGCCAAG___GTGGAAAAGGATTATTCATACCTGAAGGAGATATGTGATCACCAAGCCGAACAGCTGAGCAGAACCAGCCTAAAGCTGCAAGAAAAAGCATCAGAGAGTGATGCAGAGATCAAAGACATGAAAGAAACCATATTTGAATTGGAAGATCAGGTGGAACAGCACCGGGCTGTCAAGTTACACAATAATCAACTCATCAGTGAGCTAGAAA___GTAGTGTGATCAAGCTGGAGGAACAGAAGTCAGACCTGGAGAGGCAGCTGAAGACTCTGACCAAGCAGATGAAG___GAGGAGACCGAGGAATGGAGGCGGTTCCAGGCGGATCTGCAGACCGCAGTGGTGGTGGCCAATGACATCAAGTGTGAGGCCCAGCAGGAGCTGCGCACCGTGAAGAGGAAACTGCTGGAGGAGGAGGAGAAGAATGCCCGGTTGCAGAAGGAGCTGGGGGATGTGCAGGGCCACGGCAGGGTGGTCACCAGCAGAGCCGCCCCTCC___ACCTGTGGATGAAGAGCCAGAGTCCTCTGAGGT)CGATGCTGCTGGTCGGTGGCCTGGTGTCTGTGTTAGCAGAACATCTCCAACACCCCCAGAGTCGGCAACCACCGTTAAGTCACTTATCAAGTCATTTGACTTGGGACGCCCAG___GTGGAGCTGGACAGAATATTTCTGTCCATAAGACCCCCAGAAGTCCCCTAAGTGGGATACCAGTGAGGACTGCTCCAGCAGCTGCTGTCTCTCCAATGCAG|CAGGACTGCCCTGACCTCCTCCCGGCCCGCAGGTGTGAAGACCCCCTTGTGGAAGAAGGAAACGGAAGAGCTCCGGGCCGAGGACGCGGAGCAAGAGGAAGGGAAGGAGGGGTCGGAGGACGAGGACGAGGACAACCAGAGGCCGCTGGAGGACAGCGCGACGGAGGGCGAGGAGCCGCCGCGGGTAGCGGAGGAGGGCGAAGGCCGCGAGCGGCGCTCAGTGTCCTACTGCCCGCTGCGCCAGGAGTCCAG(CACCCAGCAGGTGGCGCTGCTGCGGCGCGCGGACAGCGGCTTCTGGGGCTGGCTCGGCCCCTTAGCGCTGCTGGGCGGCCTAACAGCTCCCACCGACAG___GAAGCGGAGCCTCCCGGAGGAGCCGTGCGTGCTGGAGATCCGGCGACGACCGCCGCGCCGCGGGGGCTGTGCTTGCTGCGAGCTCCTCTTCTGCAAGAAATGCAGGAGTCTGCACAGCCACCCAGCCTATGTGGCGCACTGCGTTCTGGATCACCCGGATCTGGGTAAGGCG)$ MRSAAKPWNPAIRAGGHGPDRVRPLPAASSGMKSSKSSTSLAFESRLSRLKRASSEDTLNKPGSTAASGVVRLKKTATAGAISELTESRLRSGTGAFTTTKRTGIPAPREFSVTVSRERSVPRGPSNPRKSVSSPTSSNTPTPTKHLRTPSTKPKQENEGGEKAALESQVRELLAEAKAKDSEINRLRSELKKYKEKRTLNAEGTDALGPNVDGTSVSPGDTEPMIRALEEKNKNFQKELSDLEEENRVLKEKLIYLEHSPNSEGAASHTGDSSCPTSITQESSFGSPTGNQMSSDIDEYKKNIHGNALRTSGSSSSDVTKASLSPDASDFEHITAETPSRPLSSTSNPFKSSKCSTAGSSPNSVSELSLASLTEKIQKMEENHHSTAEELQATLQELSDQQQMVQELTAENEKLVDEKTILETSFHQHRERAEQLSQENEKLMNLLQERVKNEEPTTQEGKIIELEQKCTGILEQGRFEREKLLNIQQQLTCSLRKVEEENQGALEMIKRLKEENEKLNEFLELERHNNNMMAKTLEECRVTLEGLKMENGSLKSHLQGEKQKATEASAVEQTAESCEVQEMLKVARAEKDLLELSCNELRQELLKANGEIKHVSSLLAKVEKDYSYLKEICDHQAEQLSRTSLKLQEKASESDAEIKDMKETIFELEDQVEQHRAVKLHNNQLISELESSVIKLEEQKSDLERQLKTLTKQMKEETEEWRRFQADLQTAVVVANDIKCEAQQELRTVKRKLLEEEEKNARLQKELGDVQGHGRVVTSRAAPPPVDEEPESSEVDAAGRWPGVCVSRTSPTPPESATTVKSLIKSFDLGRPGGAGQNISVHKTPRSPLSGIPVRTAPAAAVSPMQ|QDCPDLLPARRCEDPLVEEGNGRAPGRGRGARGREGGVGGRGRGQPEAAGGQRDGGRGAAAGSGGGRRPRAALSVLLPAAPGVQHPAGGAAAARGQRLLGLARPLSAAGRPNSSHRQEAEPPGGAVRAGDPATTAAPRGLCLLRAPLLQEMQESAQPPSLCGALRSGSPGSG* 09BR005 ENSG00000131759.18 ENSG00000131771.14 +/+ +/- chr17:40309286 chr17:39635026 5'UTR/splice-site intron inversion/3'-3' 6 19 0 101 47 high . . . . . ENSG00000131759.18 ENSG00000131771.14 ENST00000254066.10 . downstream downstream duplicates(1) ^(GCAGCA)GCCTAACCCAGAAGCAGGGGGGAATCCTGAATCGAGCTGAGAGGGCTTCCCCGGTTCTCCTGGGAACCCCATCGGCCCCCTGCCAGCACACACCTGAGCAG|ATGGGGTTTCACCATGTTGGCTGGACTGGTCTTGAACTCCAGACCTCAAGTGATCCGCTAGCCTTGGCATCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGCACCCAGCCACCTGCTGCTTTTCCTGAGGGAACAGTCTCCTCTCACCCCTCTTCCACTGTTTTGGAGGGGTCTCAGTGAGGACTGATTCAGGTCTTCCAGCTGTCTCTcGCCCACAAAGG . 09BR005 ENSG00000128487.16 ENSG00000271392.1 +/+ -/+ chr17:20247319 chr17:35757425 CDS/splice-site exon deletion/5'-5' 18 6 0 198 60 high out-of-frame . . . . ENSG00000128487.16 ENSG00000271392.1 ENST00000395527.8 . downstream upstream duplicates(2) ^(ATCAGTGAGCGCCCGGAGCCGTGGCCGCTGGGGGTTGCGGCGGCGCTGAGCCAGCGGGGCCG___GACAGACCCACGAAGTCAAGCATGCGGAGTGCAGCCAAGCCCTGGAACCCAGCCATCAGAGCAGGGGGCCACGGCCCAGACCGGGTGCGGCCTCTGCCTGCAGCCTCTTCCGGCATGAAGAGTTCTAAGTCTTCAACTTCCTTGGCTTTTGAGTCCCGACTCAGCAGG___CTCAAGAGGGCCAGCAGTGAGGACACGCTCAACAAGCCAGGAAGTACCGCTGCATCGGGGGTGGTTCGCCTGAAGAAGACCGCCACTGCCGGAGCCATCTCGGAGCTCACGGAGAGCCGCCTGAGGAGCGGCACAG___GGGCCTTTACAACAACTAAACGGACAGGCATTCCAGCCCCACGGGAATTTTCAGTAACTGTCTCAAGAGAGAGGTCTGTGCCACGTGGTCCCTCCAACCCCAGGAAATCAGTGTCCAGTCCAACTTCTTCCAACACTCCCACTCCTACGAAACACCTGAGGACCCCTTCCACAAAGCCCAAGCAAGAGAATGAAGGTGGAGAAAAGGCTGCGCTTGAGTCCCAAGTTCGGGAACTTTTGGCAGAAGCCAAAGCAAAAGATAGTGAAATTAACAGGCTTCGAAGTGAACTAAAGAAATACAAAGAGAAAAGGACTCTGAACGCTGAGGGGACTGATGCTTTGGGCCCAAATGTCGATGGAACATCAGTCTCCCCAGGTGACACGGAACCTATGATAAGAGCTCTTGAGGAGAAGAACAAGAACTTTCAGAAAGAGCTTTCCGATCTAGAGGAAGAAAACCGGGTCCTGAAGGAGAAACTGATCTATCTTGAGCACTCCCCAAATTCAGAAGGGGCAGCAAGTCACACTGGCGACAGCAGCTGCCCAACATCCATAACTCAAGAGTCAAGCTTCGGAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAGTATAAAAAAAACATACATGGAAATGCATTACGGACATCAGGCTCCTCAAGTAGCGATGTTACCAAAGCTTCTTTGTCGCCAGATGCTTCCGACTTTGAGCACATTACAGCAGAGACACCCTCAAGGCCCCTGTCCTCCACCAGTAACCCCTTTAAGAGTTCAAAGTGTTCTACTGCTGGGAGTTCCCCAAACAGCGTAAGTGAATTGTCCCTGGCTTCCCTCACAGAGAAGATACAAAAGATGGAAGAAAACCACCATAGCACTGCAGAAGAACTACAGGCTACTCTACAAGAATTATCAGACCAGCAACAAATGGTACAGGAATTGACAGCTGAAAATGAGAAGCTGGTGGATGAAAAGACGATTTTAGAGACATCCTTTCATCAGCATCGAGAGAGGGCAGAGCAGCTAAGTCAAGAAAATGAGAAGCTGATGAATCTTTTACAAGAGCGAGTAAAGAATGAAGAGCCCACCACTCAGGAAGGAAAAATTATTGAACTGGAGCAGAAGTGCACAGGTATTCTTGAACAGGGCCGCTTTGAAAGAGAGAAGCTACTCAACATTCAGCAGCAGTTGACCTGTAGCTTGCGGAAGGTTGAGGAAGAAAACCAAGGAGCTTTAGAAATGATTAAACGTCTGAAGGAAGAAAATGAAAAACTGAATGAGTTTCTAGAACTGGAACGGCATAATAATAACATGATGGCCAAAACTTTGGAAGAGTGTAGAGTTACCTTGGAAGGGCTAAAAATGGAGAATGGATCTTTGAAGTCTCATTTGCAGGGTGAGAAGCAGAAAGCCACAGAGGCCAGTGCTGTGGAGCAGACGGCAGAGAGCTGCGAAGTTCAAGAAATGTTGAAAGTAGCCCGAGCAGAGAAAGATCTACTGGAACTGTCTTGCAATGAGCTCAGACAAGAATTACTAAAGGCAAACGGTGAAATTAAACATGTTTCCAGTCTGCTGGCCAAG___GTGGAAAAGGATTATTCATACCTGAAGGAGATATGTGATCACCAAGCCGAACAGCTGAGCAGAACCAGCCTAAAGCTGCAAGAAAAAGCATCAGAGAGTGATGCAGAGATCAAAGACATGAAAGAAACCATATTTGAATTGGAAGATCAGGTGGAACAGCACCGGGCTGTCAAGTTACACAATAATCAACTCATCAGTGAGCTAGAAA___GTAGTGTGATCAAGCTGGAGGAACAGAAGTCAGACCTGGAGAGGCAGCTGAAGACTCTGACCAAGCAGATGAAG___GAGGAGACCGAGGAATGGAGGCGGTTCCAGGCGGATCTGCAGACCGCAGTGGTGGTGGCCAATGACATCAAGTGTGAGGCCCAGCAGGAGCTGCGCACCGTGAAGAGGAAACTGCTGGAGGAGGAGGAGAAGAATGCCCGGTTGCAGAAGGAGCTGGGGGATGTGCAGGGCCACGGCAGGGTGGTCACCAGCAGAGCCGCCCCTCC___ACCTGTGGATGAAGAGCCAGAGTCCTCTGAGGTCGATGCTGCTG)GTCGGTGGCCTGGTGTCTGTGTTAGCAGAACATCTCCAACACCCCCAGAGTCGGCAACCACCGTTAAGTCACTTATCAAGTCATTTGACTTGGGACGCCCAG___GTGGAGCTGGACAGAATATTTCTGTCCATAAGACCCCCAGAAGTCCCCTAAGTGGGATACCAGTGAGGACTGCTCCAGCAGCTGCTGTCTCTCCAATGCAG|TTGCATGAAGCCACAATGCCTGGAGCTGCAGCAGCCATTTTGTAACCAAGAGGAGACAAGGAAGGCAAAGAGGAAAG___GTGTGAAGACCCCCTTGTGGAAGAAGGAAACGGAAGAGCTCCGGGCCGAGGACGCGGAGCAAGAGGAAGGGAAGGAGGGG MRSAAKPWNPAIRAGGHGPDRVRPLPAASSGMKSSKSSTSLAFESRLSRLKRASSEDTLNKPGSTAASGVVRLKKTATAGAISELTESRLRSGTGAFTTTKRTGIPAPREFSVTVSRERSVPRGPSNPRKSVSSPTSSNTPTPTKHLRTPSTKPKQENEGGEKAALESQVRELLAEAKAKDSEINRLRSELKKYKEKRTLNAEGTDALGPNVDGTSVSPGDTEPMIRALEEKNKNFQKELSDLEEENRVLKEKLIYLEHSPNSEGAASHTGDSSCPTSITQESSFGSPTGNQMSSDIDEYKKNIHGNALRTSGSSSSDVTKASLSPDASDFEHITAETPSRPLSSTSNPFKSSKCSTAGSSPNSVSELSLASLTEKIQKMEENHHSTAEELQATLQELSDQQQMVQELTAENEKLVDEKTILETSFHQHRERAEQLSQENEKLMNLLQERVKNEEPTTQEGKIIELEQKCTGILEQGRFEREKLLNIQQQLTCSLRKVEEENQGALEMIKRLKEENEKLNEFLELERHNNNMMAKTLEECRVTLEGLKMENGSLKSHLQGEKQKATEASAVEQTAESCEVQEMLKVARAEKDLLELSCNELRQELLKANGEIKHVSSLLAKVEKDYSYLKEICDHQAEQLSRTSLKLQEKASESDAEIKDMKETIFELEDQVEQHRAVKLHNNQLISELESSVIKLEEQKSDLERQLKTLTKQMKEETEEWRRFQADLQTAVVVANDIKCEAQQELRTVKRKLLEEEEKNARLQKELGDVQGHGRVVTSRAAPPPVDEEPESSEVDAAGRWPGVCVSRTSPTPPESATTVKSLIKSFDLGRPGGAGQNISVHKTPRSPLSGIPVRTAPAAAVSPMQ|lheatmpgaaaail* 09BR005 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 10 14 0 75 49 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2),low_entropy(1),mismatches(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGA)GAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 09BR005 ENSG00000008838.20 ENSG00000241866.3(48178),ENSG00000263655.1(120995) -/- ./+ chr17:40053298 chr18:73793410 CDS/splice-site intergenic translocation 11 13 0 1144 36 high out-of-frame . . . . ENSG00000008838.20 . ENST00000394126.5 . upstream upstream . ^(GGTGCGATCTCGGCTCACCCCAACAACCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCAAGCCCGGCTAATTTTGTATTTTTAGTGGAGACGAGGTTTCTCCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCCGGTGATTCGCCCGCCTCTGCCTCCCGAAGTGCTGGGATTACAGGTGCGAGCCACTGCGCTCGGCCGATACTTTCTTAGTGCCCCAGTTTAAGGAAGGGCGGTTCAGGAGGAGAGAGTCTGACAGGATCTTACTTTATCCCTTTAGCTCTTTTTCTTTCAAATTCCTCTGTCTCG)CTTAAATCTTCCCGCATCTTCTCCTTTCTATTTAATTCTGCCTTCCCCGGTTCTCCTTAGAACCTCATGTCCTTTTCTTTAGCTCCATTTCTTTCACCTCAAAGCTGGCCGCCACCGCTGCCACCTGCTCAGAGTGAAATAATGAAGGTGGTCAACCTGAAGCAAGCCATTTTGCAAGCCTGGAAGGAGCGCTGGAGTGACTACCAATGGGCAATCAACATGAAGAAATTCTTTCCTAAAGGAGCCACCTGGGATATTCTCAACCTGGCAG___ATGCGTTACTAGAGCAGGCCATGATTGGACCATCCCCCAATCCTCTCATCTTGTCCTACCTGAAGTATGCCATTAGTTCCCAG|GACATTCTGGAAATGTTTCTGCTGATCAAAAAACCTCTCAAGAACCTTTTAAATTTTGCATGAAGTTCACAGAGATCCCCTTCATTAGAAAGAAGTCTATGCTCATGAATCATTTTGAGATAATACCTCTCTATTTTTGGCTTCTCCCGAGACAGTTGAAGAGCAACATTCTTAAGTTTCTCCAGGCCCTCGGGTTTGATTGAAGAGATCTGTG MSFSLAPFLSPQSWPPPLPPAQSEIMKVVNLKQAILQAWKERWSDYQWAINMKKFFPKGATWDILNLADALLEQAMIGPSPNPLILSYLKYAISSQ|dilemfllikkplknllnfa* 09BR005 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 18 5 0 224 46 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGA)GCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09BR005 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 10 0 26 28 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismatches(2) GACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCC(CAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 09BR005 ENSG00000144452.15 ENSG00000088179.9 -/- +/- chr2:214968720 chr2:119916683 CDS/splice-site intron deletion/5'-5' 13 5 0 59 15 high out-of-frame . ABC-2_family_transporter_protein(100%),ABC_transporter(100%)| . . ENSG00000144452.15 ENSG00000088179.9 ENST00000272895.12 . upstream downstream duplicates(1) ^(GTGGATAGGCAATTAATTTCATGGAGAGTAGGAGGTGTGGGTTCAGCTGCTGCTTTTTTTTTTTTTTCAGTGAGGCATTATCTGAATGATGCTCATTCTCTCTTGAGTCTGGACTTCGTGCAACAAGCAGCAACTGGATATTATTTTAAAATAAGCATAAGCCACCCAAAGATACTGATCTGGGTCCTTCTTTTGGAAGAAGAGTTGATTGAGAAGTGCCTCTTGGTTAAGGATTAACCACAGGGAAAAATCCAGCAGAAACAGAAGAACTGTGGGTTTCTTACCCCAGCCCTCAAGGAAGCTATGCCGTGAAAGGGGTACTGATACACTGACATACAGCAAGTTGGACGGGGCATCAGTTCTTCATTTGTGGAGTGGAGAAAAGAAGAGGAAATCTCTCATTTGGGGCATTTGAAGGATGGCTTCCCTGTTTCATCAGCTTCAGATCCTGGTCTGGAAAAATTGGCTAGGTGTAAAAAGGCAGCCG___CTTTGGACACTTGTCTTGATCTTATGGCCAGTCATTATTTTCATAATTTTGGCTATTACTCGGACCAAATTTCCTCCAACTGCAAAACCAACTT___GTTACCTCGCACCTCGAAACCTTCCTAGTACTGGATTCTTTCCATTCCTGCAGACCCTACTCTGTGACACAGACTCTAAATGCAAAGACACACCCTATGGCCCACAAGATCTGCTTCGTAGGAAAGGAATTGATGATGCACTATTTAAAGACAG___TGAGATTCTGAGAAAGTCATCCAACCTGGATAAGGACAGCAGTTTATCATTCCAGAGCACCCAAGTTCCAGAAAGAAGGCATGCATCACTAG___CCACAGTATTTCCCAGTCCAAGTTCTGATTTGGAAATCCCCGGAACATATACTTTCAATGGCAGTCAAGTGCTCGCACGAATTCTTGGCTTGGAAAAG___CTGTTAAAGCAAAATTCAACTTCAGAAGATATACGAAGAGAACTATGTGACAGCTATTCAGGATACATTGTGGATGATGCCTTCTCTTGGACCTTTCTAGGAAGAAATGTTTTTAACAAATTTTGCCTTTCTAACATGACCCTTTTAGAGTCTTCTCTCCAAGAACTAAACAAACAGTTCTCCCAG___CTATCCAGTGACCCCAACAATCAGAAGATAGTGTTTCAGGAAATAGTCAGAATGCTGTCTTTCTTCTCACAAGTGCAAGAGCAGAAAGCTGTGTGGCAGCTTCTGTCTAGTTTTCCAAATGTGTTTCAGAATGACACATCACTAAGCAATCTATTTGATGTTCTTCGAAAGGCAAACAG___TGTGCTGCTGGTTGTGCAGAAGGTTTATCCACGTTTTGCAACTAACGAAGGTTTCAGAACCCTCCAGAAGTCTGTTAAACATCTGCTGTACACTCTGGACTCCCCAGCTCAAG___GTGACTCCGATAATATAACGCATGTGTGGAATGAGGATGATGGACAGACCTTATCTCCAAGCAGTCTGGCTGCACA___GCTCCTAATTCTGGAAAACTTTGAAGATGCCCTCTTAAATATATCAGCAAATAGTCCTTATATTCCTTACTTGGCATGTGTGAGAAATGTGACTGACAGTTTGGCCAGAGGTTCACCAG___AAAATCTAAGACTCCTGCAGTCCACAATACGATTTAAAAAATCTTTTCTTCGCAATGGTTCCTATGAAGATTACTTTCCTCCAGTTCCTGAAGTCCTAAAATCAAAA___CTGTCTCAACTTCGAAACTTGACCGAACTTCTTTGTGAATCTGAAACTTTCAGTTTGATAGAGAAGTCATGCCAGCTCTCTGATATGAGCTTTGGGAGCCTGTGTGAAGAAAGTGAGTTTGATCTGCAACTCCTCGAAGCGGCAGAGCTGGGCACCGAAATAGCAGCCAGCTTACTGTACCATGACAATGTCATATCTAAAAAAGTGAGAGATTTGCTGACTGGAGATCCAAGCAAAATTAATTTAAATATGGATCA___GTTTCTAGAACAGGCACTGCAAATGAATTACTTGGAAAATATCACTCAGTTAATACCGATCATAGAAGCCATGCTGCATGTCAATAACAGTGCAGATGCTTCTGAAAAGCCAG___GTCAGTTACTAGAAATGTTTAAAAATGTTGAAGAGCTGAAAGAAGATTTAAGGAGAACAACAGGAATGTCCAACAGGACTATTGACAAGTTGCTGGCCATTCCCATCCCTGATAATAGAGCTGAG___ATTATTTCTCAGGTGTTCTGGCTGCATTCCTGTGATACTAATATCACCACTCCCAAACTAGAAGATGCAATGAAAGAATTCTGCAACCTGTCTCTTTCAGAGAGATCCCGGCAGTCTTACCTCATCGGACTCACCCTTCTGCACTACTTAAACATTTACAACTTCACATACAAG___GTGTTTTTCCCGAGGAAAGATCAAAAGCCAGTAGAAAAGATGATGGAGCTCTTCATAAGACTAAAAGAGATTCTCAATCAGATGGCTTCTGGCACACATCCGCTGCTAGACAAAATGAGATCCCTGAAGCAAATGCATCTGCCCAGAAGTGTTCCATTAACACAG___GCAATGTACAGAAGCAACCGAATGAACACACCACAAGGATCATTTAGCACCATCTCCCAAGCATTATGTTCTCAAGGAATTACCACTGAATATTTAACTGCCATGCTGCCCTCTTCCCAGAGGCCAAAAGGCAACCACACCAAGGATTTTTTGACTTATAAATTAACTAAAGAGCAAATTGCTTCAAAATATGGAATTCCCATAAATTCCA___CACCATTTTGCTTCTCCCTTTATAAAGACATCATTAACATGCCCGCTGGACCTGTGATTTGGGCTTTCTTGAAACCTATGTTGTTGGGAAGAATTTTGTATGCACCATATAACCCAGTCACAAAGGCAATAATGGAAAAG___TCCAATGTAACTCTGAGACAGCTGGCGGAATTAAGAGAAAAATCTCAAGAGTGGATGGATAAGTCGCCACTTTTCATGAATTCCTTCCATCTGTTAAACCAGGCAATTCCAATGCTCCAG___AATACTCTAAGGAACCCTTTTGTGCAAGTTTTTGTAAAGTTCTCCGTGGGACTCGATGCTGTTGAACTATTGAAACAGATAGATGAACTCG___ATATTCTAAGACTGAAATTAGAGAACAACATTGACATCATCGATCAGCTTAACACACTATCTTCCCTGACAGTAAATATTTCCTCTTGTGTATTATATGACCGTATTCAGGCAGCAAAAACCATAGATGAAATGGAGAGAGAGGCTAAAAGGCTCTACAAAAGCAACGAACTCTTTGGAA___GTGTTATTTTTAAGCTTCCTTCTAACAGAAGCTGGCACAGAGGCTATGACTCTGGAAATGTCTTTCTTCCTCCTGTCATAAAATATACCATCCGGATGAGTCTCAAGACCGCACAGACCACAAGAAGCCTAAGAACCAAGATTTGGGCTCCAGGGCCACACAATTCTCCATCACACAACCAGATCTATGGCAGGGCTTTTATTTATTTACAGGATAGTATTGAAAGAGCAATCATTGAATTGCAAACTGGAAGGAACTCCCAGGAAATAGCAGTCCAGGTTCAAGCAATTCCTTATCCCTGCTTCATGAAAGACAA___CTTCCTAACCAGTGTCTCTTATTCTCTTCCAATTGTGCTTATGGTTGCCTGGGTTGTATTTATAGCTGCCTTTGTAAAAAAGCTTGTCTATGAGAAAGACCTCCGGCTTCATGAG___TACATGAAGATGATGGGTGTGAACTCCTGCAGCCATTTCTTTGCCTGGCTTATAGAGAGTGTTGGATTTTTACTGGTTACCATCGTGATCCTCATCATTATACTCAAGTTTGGCAATATTCTTCCTAAAACAAATGGGTTCATTTTGTTCCTGTATTTTTCGGACTACAGCTTCTCGGTTATTGCCATGAGCTATCTTATCAGTGTCTTCTTCAACAACACCAACATTGCAGCTCTGATCGGAAGCCTCATCTACATCATTGCCTTCTTTCCATTTATTGTTCTGGTTACAGTGGAGAATGAGTTGAGCTATGTATTGAAAGTGTTCATG___AGCCTGCTGTCCCCAACAGCATTCAGCTATGCAAGCCAATACATTGCACGATACGAAGAACAGGGCATTG___GTCTTCAGTGGGAAAATATGTACACCTCCCCGGTTCAGGATGACACCACCTCATTTGGCTGGCTGTGCTGTCTAATCCTAGCTGACTCTTTCATTTATTTCCTTATTGCTTGGTATGTCAGGAATGTCTTCCCAG___GGACATACGGTATGGCAGCTCCCTGGTATTTTCCAATTCTTCCTTCCTATTGGAAGGAGCGATTTGGGTGTGCAGAGGTGAAGCCTGAGAAGAGCAATGGCCTCATGTTTACTAACATCATGATGCAGAACACCAACCCATCTGCCA___GTCCTGAATACATGTTTTCCTCTAACATCGAGCCTGAACCTAAAGATCTCACAGTCGGGGTTGCCCTGCATGGGGTCACAAAGATCTATGGCTCAAAAGTTGCTGTTGATAACCTCAATCTGAACTTTTATGAAGGGCATATTACTTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTACCAT___TTCCATGTTAACTGGGCTGTTTGGGGCCTCAGCAGGCACCATTTTTGTATATGGAAAAGATATCAAAACAGACCTACACACGGTACGGAAGAACATGGGAGTCTGTATGCAGCACGACGTCTTGTTCAGTTACCTCACTACTAAGGAGCACCTTCTCCTATATGGTTCCATCAAAGTTCCTCACTGGACTAAAAAGCAGCTCCACGAGGAAGTAAAAAG___GACTTTAAAAGATACTGGACTATATAGCCATCGTCATAAGAGAGTTGGAACACTGTCAGGAGGCATGAAGAGGAAGTTATCTATATCCATAGCTCTCATTGGTGGATCAAGGGTAGTAATTTTGGATGAACCATCTACTGGAGTTGACCCATGTTCTCGCCGAAGTATATGGGATGTTATATCCAAGAACAAAACTG___CCAGAACAATCATTCTGTCAACGCACCACTTGGACGAGGCTGAAGTGCTGAGTGACCGCATCGCCTTCCTGGAGCAGGGTGGGCTTAGGTGCTGTGGGTCCCCATTTTACCTCAAGGAAGCCTTTGGCGATGGGTATCACCTCACGCTTACCAAGAAGAAG___AGTCCAAATTTAAATGCAAATGCAGTATGTGACACCATGGCCGTGACAGCAATGATCCAATCACATCTCCCCGAAGCCTACCTCAAGGAGGATATTGGGGGAGAGCTTGTTTATGTACTTCCTCCATTCAGCACCAAAGTCTCAGGGGCCTACCTGTCACTCCTACGGGCACTCGACAATGGCATGGGTGACCTCAACATCGGGTGCTACGGCATTTCAGATACCACCGTGGAGGAG___GTCTTTCTGAACTTGACCAAAGAGTCACAAAAAAATAGTGCTATGAGTCTTGAGCACTTAACACAAAAGAAAATTGGGAATTCCAATGCCAATGGCATCTCAACTCCTGACGATTTATCTGTGAGCAGCAGCAATTTCACAGACAGAGATG___ACAAAATCCTGACAAGAGGAGAGAGGCTGGATGGCTTTGGACTGTTGCTGAAGAAGATCATGGCTATACTCATCAAGAGGTTCCACCACACCCGCAGGAACTGGAAAGGTCTCATTGCTCAGGTTATCCTCCCCATCGTCTTTGTTACCACTGCCATGGGCCTTGGCACACTGAGAAATTCCAGCAACAGTTATCCAGAGATTCAGATCTCCCCCTCTCTTTATGGTACCTCCGAACAGACAGCCTTCTATGC___TAATTATCACCCGAGCACGGAAGCACTTGTCTCAGCAATGTGGGACTTCCCTGGAATTGACAACATGTGTCTGAACACCAGTGATCT___ACAGTGTTTAAACAAAGACAGTCTGGAAAAATGGAACACCAGTGGAGAACCCATCACTAATTTTGGTGTTTGCTCCTGCTCAGAAAATGTCCAG___)GAATGTCCTAAATTTAACTATTCCCCACCGCACAGAAGAACTTACTCATCCCAGGTAATTTATAACCTCACTGGGCAACGAGTGGAAAATTATCTTATATCAACTGCAAATGAGTTTGTCCAAAAAAG___ATATGGAGGTTGGAGTTTTGGGCTGCCTTTGACAAAAGACCTTCGTTTTGATATAACAGGAGTCCCTGCCAATAGAACACTTGCCAAG|GAGGCTTAATGACTGGAAGTGGGCATCAGCTCCAGCAGCAACATTTCAAGCATCTGGGGTGCTGGTAAAGTTCTACATATTAGAAGGCGGTACATATACTACATATCTTGGAGGTGCTGATATGGATATGTTCACTTCATCAAGTTGTGTACTTAAAATATGC MASLFHQLQILVWKNWLGVKRQPLWTLVLILWPVIIFIILAITRTKFPPTAKPTCYLAPRNLPSTGFFPFLQTLLCDTDSKCKDTPYGPQDLLRRKGIDDALFKDSEILRKSSNLDKDSSLSFQSTQVPERRHASLATVFPSPSSDLEIPGTYTFNGSQVLARILGLEKLLKQNSTSEDIRRELCDSYSGYIVDDAFSWTFLGRNVFNKFCLSNMTLLESSLQELNKQFSQLSSDPNNQKIVFQEIVRMLSFFSQVQEQKAVWQLLSSFPNVFQNDTSLSNLFDVLRKANSVLLVVQKVYPRFATNEGFRTLQKSVKHLLYTLDSPAQGDSDNITHVWNEDDGQTLSPSSLAAQLLILENFEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFPPVPEVLKSKLSQLRNLTELLCESETFSLIEKSCQLSDMSFGSLCEESEFDLQLLEAAELGTEIAASLLYHDNVISKKVRDLLTGDPSKINLNMDQFLEQALQMNYLENITQLIPIIEAMLHVNNSADASEKPGQLLEMFKNVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVFWLHSCDTNITTPKLEDAMKEFCNLSLSERSRQSYLIGLTLLHYLNIYNFTYKVFFPRKDQKPVEKMMELFIRLKEILNQMASGTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQGSFSTISQALCSQGITTEYLTAMLPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPFCFSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQEWMDKSPLFMNSFHLLNQAIPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDELDILRLKLENNIDIIDQLNTLSSLTVNISSCVLYDRIQAAKTIDEMEREAKRLYKSNELFGSVIFKLPSNRSWHRGYDSGNVFLPPVIKYTIRMSLKTAQTTRSLRTKIWAPGPHNSPSHNQIYGRAFIYLQDSIERAIIELQTGRNSQEIAVQVQAIPYPCFMKDNFLTSVSYSLPIVLMVAWVVFIAAFVKKLVYEKDLRLHEYMKMMGVNSCSHFFAWLIESVGFLLVTIVILIIILKFGNILPKTNGFILFLYFSDYSFSVIAMSYLISVFFNNTNIAALIGSLIYIIAFFPFIVLVTVENELSYVLKVFMSLLSPTAFSYASQYIARYEEQGIGLQWENMYTSPVQDDTTSFGWLCCLILADSFIYFLIAWYVRNVFPGTYGMAAPWYFPILPSYWKERFGCAEVKPEKSNGLMFTNIMMQNTNPSASPEYMFSSNIEPEPKDLTVGVALHGVTKIYGSKVAVDNLNLNFYEGHITSLLGPNGAGKTTTISMLTGLFGASAGTIFVYGKDIKTDLHTVRKNMGVCMQHDVLFSYLTTKEHLLLYGSIKVPHWTKKQLHEEVKRTLKDTGLYSHRHKRVGTLSGGMKRKLSISIALIGGSRVVILDEPSTGVDPCSRRSIWDVISKNKTARTIILSTHHLDEAEVLSDRIAFLEQGGLRCCGSPFYLKEAFGDGYHLTLTKKKSPNLNANAVCDTMAVTAMIQSHLPEAYLKEDIGGELVYVLPPFSTKVSGAYLSLLRALDNGMGDLNIGCYGISDTTVEEVFLNLTKESQKNSAMSLEHLTQKKIGNSNANGISTPDDLSVSSSNFTDRDDKILTRGERLDGFGLLLKKIMAILIKRFHHTRRNWKGLIAQVILPIVFVTTAMGLGTLRNSSNSYPEIQISPSLYGTSEQTAFYANYHPSTEALVSAMWDFPGIDNMCLNTSDLQCLNKDSLEKWNTSGEPITNFGVCSCSENVQECPKFNYSPPHRRTYSSQVIYNLTGQRVENYLISTANEFVQKRYGGWSFGLPLTKDLRFDITGVPANRTLAK|ea* 09BR005 ENSG00000141027.21 ENSG00000214719.13 -/- +/- chr17:16146376 chr17:30589285 CDS/splice-site intron duplication/5'-5' 5 11 1 54 28 high out-of-frame . G-protein_pathway_suppressor_2-interacting_domain(100%)| . . ENSG00000141027.21 ENSG00000214719.13 ENST00000268712.8 . upstream downstream mismatches(1) ^(GAGTCAAGATGGCGGCCAAGGTGGCGAAGCAGCAGCCGCGGCGGCGGCGGCGGCTGGAGTGAGCGTCCGACTCGCCGCGCCGAACGAGGTCCCGGTGTAGGGCCGCGCGCCGTGGCCGCGTCCCACTCCTCAGGCCGGGGCGCACGTCGGCTCCCACGCTTAGCCAGCTCCCG___GTGGTTTCCTAGAAACATGATTGTTTATTGGCATTGATCTCACAGTCTGGTGAGGACTTCTTTACTGATAATGTCAAGTTCAGGTTATCCTCCCAACCAAGGAGCATTCAGCACAGAACAAAGTCGTTATCCTCCTCACTCTGTCCAGTATACATTTCCCAACACCCGCCACCAGCAG___GAGTTCGCAGTCCCTGATTATCGTTCCTCTCATCTTGAAGTGAGTCAGGCATCACAGCTTTTGCAGCAACAGCAGCAGCAACAGCTTCGAAGGCGACCTTCCTTGCTTTCAGAATTTCACCCAGGTTCTGACAG___GCCTCAAGAAAGGAGAACTAGTTATGAACCGTTTCATCCAGGCCCATCCCCAGTGGATCATGATTCACTGGAATCGAAGCGACCACGTCTGGAACAGGTTTCTGATTCTCATTTTCAGCGTGTCAGTGCTGCGGTTTTGCCTTTAGTGCACCCGCTGCCAGAAGGGCTGAGGGCTTCTGCAGATGCTAAGAAG___GATCCAGCATTCGGAGGCAAACATGAAGCTCCATCCTCTCCAATTTCGGGGCAACCATGTGGAGATGATCAAAATGCTTCACCTTCAAAACTCTCAAAGGAAGAGTTAATACAGAGTATGGATCGTGTAGATCGAGAAATTGCAAAAGTAGAACAGCAGATCCTTAAACTGAAAAAGAAACAA___CAACAGCTTGAAGAAGAGGCAGCTAAACCTCCTGAGCCTGAGAAGCCCGTGTCCCCTCCTCCTGTGGAGCAGAAACACCGCAGTATTGTCCAAATTATTTATGATGAGAATCGG___AAAAAAGCAGAAGAAGCTCATAAAATTTTTGAAGGTCTTGGCCCAAAAGTTGAACTG___CCACTGTATAACCAGCCATCAGATACCAAGGTGTACCATGAGAACATCAAGAC___AAACC)AGGTGATGAGGAAAAAACTCATTTTATTTTTTAAAAGAAGAAATCATGCAAGAAAACAAAGG___GAACAAAAAATCTGCCAGCGTTATGATCAGCTCATGGAGGCATGGGAGAAAAAAGTGGACAGAATAGAAAATAATCCTCGGAGGAAAGCTAAAGAAAGCAAAACAAGGGAATACTATGAAAAGCAGTTTCCAGAAATTCGAAAACAAAGAGAACAGCAAGAAAGATTTCAGCG|ATTCATTCTCATAGAAGGGCATCAGAGGAAGATAAAGAAGGATCCTCAATGTCAGACATCTGAGCCCAAGCTAAGCCATCATAATCCCTGTGACGTGCACATATACATGCCCCACTCCAACTAATCAATCGACCTTGTGACATTCCTCCCCTGGACAATGAATCTCATGATCTCCCAACCCTGCACCTTGTGACCCCTCCCCTGCCCACAAGAGATAACCACCTTTAAGTGTAATTTTCCACTACCTACCCAAATCCTATAAAGCTGCCCC MSSSGYPPNQGAFSTEQSRYPPHSVQYTFPNTRHQQEFAVPDYRSSHLEVSQASQLLQQQQQQQLRRRPSLLSEFHPGSDRPQERRTSYEPFHPGPSPVDHDSLESKRPRLEQVSDSHFQRVSAAVLPLVHPLPEGLRASADAKKDPAFGGKHEAPSSPISGQPCGDDQNASPSKLSKEELIQSMDRVDREIAKVEQQILKLKKKQQQLEEEAAKPPEPEKPVSPPPVEQKHRSIVQIIYDENRKKAEEAHKIFEGLGPKVELPLYNQPSDTKVYHENIKTNQVMRKKLILFFKRRNHARKQREQKICQRYDQLMEAWEKKVDRIENNPRRKAKESKTREYYEKQFPEIRKQREQQERFQr|filieghqrkikkdpqcqtsepklshhnpcdvhiymphsn* 09BR005 ENSG00000125686.12 ENSG00000141068.14 -/- +/+ chr17:39408231 chr17:27617295 CDS CDS/splice-site inversion 10 5 1 1136 37 high out-of-frame . |Protein_kinase_domain(100%) . . ENSG00000125686.12 ENSG00000141068.14 ENST00000300651.11 ENST00000268763.10 upstream upstream . ^(GAAGTTCCGTTGGGGAAGATGGCGGCGGCCTCGAGCACCCTTCTCTTCTTGCCGCCGGGGACTTCAGATTGATCCTTCCCGGGAAGAGTAGGGACTGCTGGTGCCCTGCGTCCCGGGATCCCGAGCCAACTTGTTTCCTCCGTTAGTGGTGGGGAAGGGCTTATCCTTTTGTGGCGGATCTAGCTTCTCCTCGCCTTCAGGATGAAAGCTCAGGGGGAAACCGAGG___AGTCAGAAAAGCTGAGTAAGATGAGTTCTCTCCTGGAACGGCTCCATGCAAAATTTAACCAAAATAGACCCTGGAGTGAAACCATTAAGCTTGTGCGTCAAGTCATG___GAGAAGAGGGTTGTGATGAGTTCTGGAGGGCATCAACATTTGGTCAGCTGTTTGGAGACATTGCAGAAGGCTCTCAAAG___TAACATCTTTACCAGCAATGACTGATCGTTTGGAGTCCATAGCAAGACAGAATGG___ACTGGGCTCTCATCTCAGTGCCAGTGGCACTGAATGTTACATCACGTCAGATATGTTCTATGTGGAAGTGCAGTTAGATCCTGCAGGACAGCTTTGTGATGTAAAAGTGGCTCACCATGGGGAGAATCCTGTG___AGCTGTCCGGAGCTTGTACAGCAGCTAAG___GGAAAAAAATTTTGATGAATTTTCTAAGCACCTTAAGGGCCTTGTTAATCTGTATAACCTTCCAGGGGACAA___CAAACTGAAGACTAAAATGTACTTGGCTCTCCAATCCTTAGAACAAGATCTTTCTAAAATGGCAATTATGTACTG___GAAAGCAACTAATGCTGGTCCCTTGGATAAGATTCTTCATGGAAGTGTTGGCTATCTCACACCAAGGAGTGGGG___GTCATTTAATGAACCTGAAGTACTATGTCTCTCCTTCTGACCTACTGGATGACAAGACTGCATCTCCCATCATTTTGCATGAGAATAATG___TTTCTCGATCTTTGGGCATGAATGCATCAGTGACAATTGAAGGAACATCTGCTGTGTACAAACTCCCAATTGCACCATTAATTATGGGGTCACATCCAGTTGACAATAAATG___GACCCCTTCCTTCTCCTCAATCACCAGTGCCAACAGTGTTGATCTTCCTGCCTGTTTCTTCTTGAAATTTCCCCAGCCAATCCCAGTATCTAGAGCATTTGTTCAGAAACTGCAGAACTGCACAG___GAATTCCATTGTTTGAAACTCAACCAACTTATGCACCCCTGTATGAACTGATCACTCAGTTTGAGCTATCAAAGGACCCTGACCCCATACCTTTGAATCACAACATGAGATTTTATGCT___GCTCTTCCTGGTCAGCAGCACTGCTATTTCCTCAACAAGGATGCTCCTCTTCCAGATGGCCGAAGTCTACAGGGAACCCTTGTTAGCAAAATCACCTTTCAGCACCCTGGCCGAGTTCCTCTTATCCTAAATCTGATCAGACACCAAGTGGCCTATAACACCCTCATTGGAAGCTGTGTCAAAAGAACTATTCTGAAAGAAG___ATTCTCCTGGGCTTCTCCAATTTGAAGTGTGTCCTCTCTCAGAGTCTCGTTTCAGCGTATCTTTTCAGCACCCTGTGAATGACTCCCTGGTGTGTG___TGGTAATGGATGTGCAGGACTCAACACATGTGAGCTGTAAACTCTACAAAGGGCTGTCGGATGCACTGATCTGCACAGATGACTTCATTGCCAAAGTTGTTCAAAG___ATGTATGTCCATCCCTGTGACGATGAGGGCTATTCGGAGGAAAGCTGAAACCATTCAAGCCGACACCCCAGCACTGTCCCTCATTGCAGAGACAGTTGAAGACATGGTGAAAAAGAACCTGCCCCCGGCTAGCAGCCCAGGGTATGGCATGACCACAGGCAACAACCCAATGAGTGGTACCACTACACCAACCAACACCTTTCCGGGGGGTCCCATTACCACCTTGTTTAATATGAGCATGAGCATCAAAGATCGGCATGAGTCGGTGGGCCATGGGGAGGACTTCAGCAAGGTGTCTCAGAACCCAATTCTTACCAGTTTGTTGCAAATCACAGGGAACGGGGGGTCTACCATTGGCTCGAGTCCGACCCCTCCTCATCACACGCCGCCACCTGTCTCTTCGATGGCCGGCAACACCAAGAACCACCCGATGCTCATGAACCTTCTTAAAGATAATCCTGCCCAGGATTTCTCAACCCTTTATGGAAGCAGCCCTTTAGAAAGGCAGAACTCCTCTTCCGGCTCACCCCGCATGGAAATATGCTCGGGGAGCAACAAGACCAAGAAAAAGAAGTCATCAAGATTACCACCTGAGAAACCAAAGCACCAGACTGAAGATGACTTTCAGAGGGAGCTATTTTCAATGGATGTTGACTCACAGAACCCTATCTTTGATGTCAACATGACAGCTGACACGCTGGATACGCCACACATCACTCCAGCTCCAAGCCAGTGTAGCACTCCCCCAACAACTTACCCACAACCAGTACCTCACCCCCAACCCAGTATTCAAAGGATGGTCCGACTATCCAGTTCAGACAGCATTGGCCCAGATGTAACTGACATCCTTTCAGACATTGCAGAAGAAGCTTCTAAACTTCCCAGCACTAGTGATGATTGCCCAGCCATTGGCACCCCTCTTCGAGATTCTTCAAGCTCTGGGCATTCTCAGAGTACCCTGTTTGACTCTGATGTCTTTCAAACTAACAATAATGAAAATCCATACACTGATCCAGCTGATCTTATTGCAGATGCTGCTGGAAGCCCCAGTAGTGACTCTCCTACCAATCATTTTTTTCATGATGGAGTAGATTTCAATCCTGATTTATTGAACAGCCAGAGCCAAAGTGGTTTTGGAGAAGAATATTTTGATGAAAGCAGCCAAAGTGGGGATAATGATGATTTCAAAGGATTTGCATCTCAGGCACTAAATACTTTGGGGGTGCCAATGCTTGGAGGTGATAATGGGGAGACCAAGTTTAAGGGCAATAACCAAGCCGACACAGTTGATTTCAGTATTATTTCAGTAGCCGGCAAAGCTTTAGCTCCTGCAGATCTTATGGAGCATCACAGTGGTAGTCAGGGTCCTTTACTGACCACTGGGGACTTAGGGAAAGAAAAGACTCAAAAGAGGGTAAAGGAAGGCAATGGCACCAGTAATAGTACTCTCTCGGGGCCCGGATTAGACAGCAAACCAGGGAAGCGCAGTCGGACCCCTTCTAATGATGGGAAAAGCAAAGATAAGCCTCCAAAGCGGAAGAAGGCAGACACTGAGGGAAAGTCTCCATCTCATAGTTCTTCTAACAGACCTTTTACCCCACCTACCAGTACAGGTGGATCTAAATCGCCAGGCAGTGCAGGAAGATCTCAGACTCCCCCAGGTGTTGCCACACCACCCATTCCCAAAATCACTATTCAGATTCCTAAGGGAACAGTGATGGTGGGCAAGCCTTCCTCTCACAGTCAGTATACCAGCAGTGGTTCTGTGTCTTCCTCAGGCAGCAAAAGCCACCATAGCCATTCTTCCTCCTCTTCCTCATCTGCTTCCACCTCAGGGAAGATGAAAAGCAGTAAATCAGAAGGTTCATCAAGTTCCAAGTTAAGTAGCAGTATGTATTCTAGCCAGGGGTCTTCTGGATCTAGCCAGTCCAAAAATTCATCCCAGTCTGGGGGGAAGCCAGGCTCCTCTCCCATAACCAAGCATGGACTGAGCAGTGGCTCTAGCAGCACCAAGATGAAACCTCAAGGAAAGCCATCATCACTTATGAATCCTTCTTTAAGTAAACCAAACATATCCCCTTCTCATTCAAGGCCACCTGGAGGCTCTGACAAGCTTGCCTCTCCAATGAAGCCTGTTCCTGGAACTCCTCCATCCTCTAAAGCCAAGTCCCCTATCAGT)TCAGGTTCTGGTGGTTCTCATATGTCTGGAACgAGTTCAAGCTCTGGCATGAAGTCATCTTCAGGGTTAGGATCCTCAGGCTCGTTGTCCCAGAAAACTCCCCCATCATCTAATTCCTGTACGGCATCTTCCTCCTCCTTTTCCTCAAGTGGCTCTTCCATGTCATCCTCTCAGAACCAGCATGGGAGTTCTAAAGGAAAATCTCCCAGCAGAAACAAGAAGCCGTCCTTGACAGCTGTCATAGATAAACTGAAGCATGGGGTTGTCACCAGTGGCCCTGGGGGTGAAGACCCACTGGACGGCCAGATGGGG|GAGATCCTGTCGGCCTGCTGGGCTTTCGACCTGCAGGAGAGACCCAGCTTCAGCCTGCTGATGGACATGCTGGAGAAACTTCCCAAGCTGAACCGGCGGCTCTCCCACCCTGGACACTTCTGGAAGTCAGCTGA___CATTAACAGCAGCAAAGTTGTACCCCGGT(TTGAAAGGTTTGGCTTGGGCGTCCTGGAGTCCAGTAATCCAAAGATGTAG)$ MKAQGETEESEKLSKMSSLLERLHAKFNQNRPWSETIKLVRQVMEKRVVMSSGGHQHLVSCLETLQKALKVTSLPAMTDRLESIARQNGLGSHLSASGTECYITSDMFYVEVQLDPAGQLCDVKVAHHGENPVSCPELVQQLREKNFDEFSKHLKGLVNLYNLPGDNKLKTKMYLALQSLEQDLSKMAIMYWKATNAGPLDKILHGSVGYLTPRSGGHLMNLKYYVSPSDLLDDKTASPIILHENNVSRSLGMNASVTIEGTSAVYKLPIAPLIMGSHPVDNKWTPSFSSITSANSVDLPACFFLKFPQPIPVSRAFVQKLQNCTGIPLFETQPTYAPLYELITQFELSKDPDPIPLNHNMRFYAALPGQQHCYFLNKDAPLPDGRSLQGTLVSKITFQHPGRVPLILNLIRHQVAYNTLIGSCVKRTILKEDSPGLLQFEVCPLSESRFSVSFQHPVNDSLVCVVMDVQDSTHVSCKLYKGLSDALICTDDFIAKVVQRCMSIPVTMRAIRRKAETIQADTPALSLIAETVEDMVKKNLPPASSPGYGMTTGNNPMSGTTTPTNTFPGGPITTLFNMSMSIKDRHESVGHGEDFSKVSQNPILTSLLQITGNGGSTIGSSPTPPHHTPPPVSSMAGNTKNHPMLMNLLKDNPAQDFSTLYGSSPLERQNSSSGSPRMEICSGSNKTKKKKSSRLPPEKPKHQTEDDFQRELFSMDVDSQNPIFDVNMTADTLDTPHITPAPSQCSTPPTTYPQPVPHPQPSIQRMVRLSSSDSIGPDVTDILSDIAEEASKLPSTSDDCPAIGTPLRDSSSSGHSQSTLFDSDVFQTNNNENPYTDPADLIADAAGSPSSDSPTNHFFHDGVDFNPDLLNSQSQSGFGEEYFDESSQSGDNDDFKGFASQALNTLGVPMLGGDNGETKFKGNNQADTVDFSIISVAGKALAPADLMEHHSGSQGPLLTTGDLGKEKTQKRVKEGNGTSNSTLSGPGLDSKPGKRSRTPSNDGKSKDKPPKRKKADTEGKSPSHSSSNRPFTPPTSTGGSKSPGSAGRSQTPPGVATPPIPKITIQIPKGTVMVGKPSSHSQYTSSGSVSSSGSKSHHSHSSSSSSSASTSGKMKSSKSEGSSSSKLSSSMYSSQGSSGSSQSKNSSQSGGKPGSSPITKHGLSSGSSSTKMKPQGKPSSLMNPSLSKPNISPSHSRPPGGSDKLASPMKPVPGTPPSSKAKSPISSGSGGSHMSGTSSSSGMKSSSGLGSSGSLSQKTPPSSNSCTASSSSFSSSGSSMSSSQNQHGSSKGKSPSRNKKPSLTAVIDKLKHGVVTSGPGGEDPLDGQMG|eilsacwafdlqerpsfsllmdmleklpklnrrlshpghfwksadinsskvvprferfglgvlessnpkm* 09BR005 ENSG00000131759.18 ENSG00000171532.5(145),ENSG00000214546.4(11548) +/+ ./- chr17:40309286 chr17:39608065 5'UTR/splice-site intergenic inversion 6 9 0 101 29 high . . . . . ENSG00000131759.18 . ENST00000254066.10 . downstream downstream . ^GCAGCAGCCTAACCCAGAAGCAGGGGGGAATCCTGAATCGAGCTGAGAGGGCTTCCCCGGTTCTCCTGGGAACCCCATCGGCCCCCTGCCAGCACACACCTGAGCAG|AGAGTGACAGATGGCGGCGGGTCCCGGGGGAGCCGGCTCTCCCCCAGTGCAGACGCATGCCAATCACCGTCTCTCATGTGATAGCTGCTGCCCGTGACGTGCCAAGCCC . 09BR005 ENSG00000108306.13 ENSG00000186075.12(20240),ENSG00000073605.18(6459) -/- ./+ chr17:39343180 chr17:39898136 CDS/splice-site intergenic inversion 1 12 0 162 48 high out-of-frame . F-box-like(100%)| . . ENSG00000108306.13 . ENST00000264658.11 . upstream upstream mismappers(1) ^(GGAGAGAGCCGAGCTAGCGACGAGCAGTCGTTGCGGCCGCCGGCGCCGCGGGAGGTGGTGGAGGCCTAGCCGGAGCCGAGAGGTCTCTTGTTCCCGTCCCACGGTCCCGGCGTCACCCCTCCGGCGCCCAGTCCCCGTCCCGGAACTCCCGGGCCTGTCCTGGGCCCCCGGTCTGTGC)ACTCCGCTCGCCGCAGCGCCCGGCCCGGGCCGCACCCGCCGGCCCCATGAGGAGGGACGTGAACGGAGTGACCAAGAGCAGGTTTGAG___ATGTTCTCAAATAGTGATGAAGCTGTAATCAATAAAAAACTTCCCAAAGAACTCCTGTTACG|GGTCTGTACCTCAACGTTGAATTTCTGGAACACAGG___AGTCTCGATCTGTCACCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGCGCCACCACGCCCAGCTAATTCTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGACTTGAACTCCCAGCCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGTTGGGATTGCAGGTGTGAGCCACCACACCTGGCTTCAGTAAGATTTTATAACAATGTATTTCAGCTCTTTCGGAC MRRDVNGVTKSRFEMFSNSDEAVINKKLPKELLLr|vctstlnfwntgvsichqagvqwrdlgspqplplgfkrfsclslpss* 09BR005 ENSG00000138430.16 ENSG00000152256.14(62126),ENSG00000230104.1(3417) -/- ./+ chr2:174223033 chr2:172670795 CDS/splice-site intergenic inversion 5 7 1 675 17 high out-of-frame . 50S_ribosome-binding_GTPase(100%)| . . ENSG00000138430.16 . ENST00000284719.8 . upstream upstream duplicates(1) ^(CTTCCTCCCCGCCTCCAGCTGCCGGCAGGACCTTTCTCTCGCTGCCGCTGGGACCCCGTGTCATCGCCCAGGCCGAGCACG___ATGCCCCCTAAAAAGGGAGGTGATGGAATTAAACCACCCCCAATCATTGGAAGATTTGGAACCTCACTGAAAATTGGTATTGTTGGATTGCCAAATGTTGG___GAAATCTACTTTCTTCAATGTGTTAACCAATA)GTCAGGCTTCAGCAGAAAACTTCCCGTTCTGCACTATTGATCCTAATGAGAGCAGAGTACCTGTGCCAGATGAAAGGTTTGACTTTCTTTGTCAATACCACAAACCAGCAAG___CAAAATTCCTGCCTTTCTAAATGTGGTGGATATTGCTGGCCTTGTGAAAGGAGCTCACAATGGGCAGGGCCTGGGGAATGCTTTTTTATCTCATATTAGTGCCTGTGATGGCATCTTTCATCTAACAC|GCTAACCTCTCAAGCTCTTGAAGGTTATAAGAGGGATTGATAGTCCATGATTCAGGTCTTGAGATAAAAGGCACGAACGTCCCTCCCAAG___GGGAAACCATGTTGTGAGAGACCCATGTATGGCTGAACTAAACCTGTGTGCATGTGAGTGAAGCAGAGCCTCAAGCTCCAGATGGAT...___CTGTAATGGGTTTTCATCTAGTCTTGGAGATATGAAGTTTCTGGTTCTTCCCCCAAGGCTAGAGGCTTTTGTTCCTTGAGAAAGCATCTAAGGAGG MPPKKGGDGIKPPPIIGRFGTSLKIGIVGLPNVGKSTFFNVLTNSQASAENFPFCTIDPNESRVPVPDERFDFLCQYHKPASKIPAFLNVVDIAGLVKGAHNGQGLGNAFLSHISACDGIFHLT|r* 09BR005 ENSG00000131748.16 ENSG00000167258.15 +/+ +/- chr17:39637231 chr17:39471114 5'UTR/splice-site CDS inversion/3'-3' 5 8 0 845 693 high . . . . . ENSG00000131748.16 ENSG00000167258.15 ENST00000544210.6 . downstream downstream duplicates(1) ^GATCTTCTTCCGCTCTGAGGCGCTACTGAGGCCGCGGAGCCGGACTGCGGTTGGGGCGGGAAGAGCCGGGGCCGTGGCTGACATGGAGCAG|GCAAAAATACAGGTGAACCCTTGGACTCCTTTCCATCCATCTTTGCTGCAGCAGCAGCAGCTGCTCTTTCCTTCTTTTTCCTACTGAGTTCAGCTCCCAGACTGGAATTAAGTGGAAGCCTGACAGGTGAGATACTGGAATGACGACTGCGTGAACTGGATCTCTTCTTTTTACTATGAGAAGATGAATGTCTTGAATATGCAGGACTTCTACTTCTGGACTTCATGGATTTCCTACTGGAAAAATAAAAAGCCAGTTTTAAATGAATGGAC . 09BR005 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 11 0 16 80 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(1),mismatches(1) GGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAA(TCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 09BR005 ENSG00000161551.14 ENSG00000269483.2 -/- -/- chr19:51877282 chr19:51843315 CDS/splice-site exon deletion/read-through 2 9 0 75 36 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000269483.2 ENST00000301399.11 ENST00000594725.2 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGA)GTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGcGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTTTATCATCATTCAATGATGTGGCTGTTGACTTCACCTGGGAGGAGTGGAATCTATTAGACCCTGTTCAGAAGAACCTCTACCAGGATGTGATGTTGGAAAATTACAACAACCTAGTGTCACTGG___GTTGTCAAGCTACCAAGCCAGAAGCAATATTCCAGT$ MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLaNYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gfiiiq* 09BR005 ENSG00000250358.6(65443),ENSG00000134982.17(30003) ENSG00000134982.17 ./+ +/+ chr5:112707882 chr5:112754873 intergenic 5'UTR/splice-site deletion/read-through 3 7 0 17 18 high . . |APC_15_residue_motif(100%),APC_basic_domain(100%),APC_repeat(100%),Adenomatous_polyposis_coli_tumour_suppressor_protein(100%),Armadillo-associated_region_on_APC(100%),Armadillo/beta-catenin-like_repeat(100%),Coiled-coil_N-terminus_of_APC__dimerisation_domain(100%),EB-1_Binding_Domain(100%),SAMP_Motif(100%),Unstructured_region_on_APC_between_1st_and_2nd_catenin-bdg_motifs(100%),Unstructured_region_on_APC_between_1st_two_creatine-rich_regions(100%),Unstructured_region_on_APC_between_APC_crr_and_SAMP(100%),Unstructured_region_on_APC_between_APC_crr_regions_5_and_6(100%),Unstructured_region_on_APC_between_SAMP_and_APC_crr(100%) . . . ENSG00000134982.17 . ENST00000257430.9 downstream upstream . CCTCCCTGGGCTCGGGTCCGGTCGCCCCTTTGCCCGCTTCTGTACCACCCTCAGTTCTCGGGTCCTGGAGCACCGGCGGCAGCAGGAGCTGCGTCCGGCAGGAGACGAAGAGCCCGGGCGGCGCTCGTACTTCTGGCCACTGGGCGAGCGTCTGGCAG|GTCCAAGGGTAGCCAAGGATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAACTCAAATCTTCGACAAGAGCTAGAAGATAATTCCAATCATCTTACAAAACTGGAAACTGAGGCATCTAATATGAAG___GAAGTACTTAAACAACTACAAGGAAG(TATTGAAGATGAAGCTATGGCTTCTTCTGGACAGATTGATTTATTAGAGCGTCTTAAAG___AGCTTAACTTAGATAGCAGTAATTTCCCTGGAGTAAAACTGCGGTCAAAAATGTCCCTCCGTTCTTATGGAAGCCGGGAAGGATCTGTATCAAGCCGTTCTGGAGAGTGCAGTCCTGTTCCTATGGGTTCATTTCCAAGAAGAGGGTTTGTAAATGGAAGCAGAGAAAGTACTGGATATTTAGAAGAACTTGAGAAAGAGAG___GTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAAT___TTTTCCTTACAAACAGATATGACCAGAAGGCAATTGGAATATGAAGCAAGGCAAATCAGAGTTGCGATGGAAGAACAACTAGGTACCTGCCAGGATATGGAAAAACGAGCACAG___CGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAG___AGGTCATCTCAGAACAAGCATGAAACCGGCTCACATGATGCTGAGCGGCAGAATGAAGGTCAAGGAGTGGGAGAAATCAACATGGCAACTTCTGGTAATGGTCAG___GGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAG___GTGGAAATGGTGTATTCATTGTTGTCAATGCTTGGTACTCATGATAAGGATGATATGTCGCGAACTTTGCTAGCTATGTCTAGCTCCCAAGACAGCTGTATATCCATGCGACAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGGGCCAGGGCCAGTGCAGCACTCCACAACATCATTCACTCACAGCCTGATGACAAGAGAGGCAGGCGTGAAATCCGAGTCCTTCATCTTTTGGAACAGATACGCGCTTACTGTGAAACCTGTTGGGAGTGGCAGGAAGCTCATGAACCAGGCATGGACCAGGACAAAAATCCAA___TGCCAGCTCCTGTTGAACATCAGATCTGTCCTGCTGTGTGTGTTCTAATGAAACTTTCATTTGATGAAGAGCATAGACATGCAATGAATGAACTAG___GGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATATGCTGGAATGGCTTTGACAAACTTGACTTTTGGAGATGTAGCCAACAAG___GCTACGCTATGCTCTATGAAAGGCTGCATGAGAGCACTTGTGGCCCAACTAAAATCTGAAAGTGAAGACTTACAGCAG___GTTATTGCGAGTGTTTTGAGGAATTTGTCTTGGCGAGCAGATGTAAATAGTAAAAAGACGTTGCGAGAAGTTGGAAGTGTGAAAGCATTGATGGAATGTGCTTTAGAAGTTAAAAAG___GAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAG___GCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGTATTGACTCTGAAGATGACCTGTTGCAGGAATGTATAAGCTCCGCAATGCCAAAAAAGAAAAAGCCTTCAAGACTCAAGGGTGATAATGAAAAACATAGTCCCAGAAATATGGGTGGCATATTAGGTGAAGATCTGACACTTGATTTGAAAGATATACAGAGACCAGATTCAGAACATGGTCTATCCCCTGATTCAGAAAATTTTGATTGGAAAGCTATTCAGGAAGGTGCAAATTCCATAGTAAGTAGTTTACATCAAGCTGCTGCTGCTGCATGTTTATCTAGACAAGCTTCGTCTGATTCAGATTCCATCCTTTCCCTGAAATCAGGAATCTCTCTGGGATCACCATTTCATCTTACACCTGATCAAGAAGAAAAACCCTTTACAAGTAATAAAGGCCCACGAATTCTAAAACCAGGGGAGAAAAGTACATTGGAAACTAAAAAGATAGAATCTGAAAGTAAAGGAATCAAAGGAGGAAAAAAAGTTTATAAAAGTTTGATTACTGGAAAAGTTCGATCTAATTCAGAAATTTCAGGCCAAATGAAACAGCCCCTTCAAGCAAACATGCCTTCAATCTCTCGAGGCAGGACAATGATTCATATTCCAGGAGTTCGAAATAGCTCCTCAAGTACAAGTCCTGTTTCTAAAAAAGGCCCACCCCTTAAGACTCCAGCCTCCAAAAGCCCTAGTGAAGGTCAAACAGCCACCACTTCTCCTAGAGGAGCCAAGCCATCTGTGAAATCAGAATTAAGCCCTGTTGCCAGGCAGACATCCCAAATAGGTGGGTCAAGTAAAGCACCTTCTAGATCAGGATCTAGAGATTCGACCCCTTCAAGACCTGCCCAGCAACCATTAAGTAGACCTATACAGTCTCCTGGCCGAAACTCAATTTCCCCTGGTAGAAATGGAATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAACTAAGTCCTCAGGTTCTGGAAAAATGTCATATACATCTCCAGGTAGACAGATGAGCCAACAGAACCTTACCAAACAAACAGGTTTATCCAAGAATGCCAGTAGTATTCCAAGAAGTGAGTCTGCCTCCAAAGGACTAAATCAGATGAATAATGGTAATGGAGCCAATAAAAAGGTAGAACTTTCTAGAATGTCTTCAACTAAATCAAGTGGAAGTGAATCTGATAGATCAGAAAGACCTGTATTAGTACGCCAGTCAACTTTCATCAAAGAAGCTCCAAGCCCAACCTTAAGAAGAAAATTGGAGGAATCTGCTTCATTTGAATCTCTTTCTCCATCATCTAGACCAGCTTCTCCCACTAGGTCCCAGGCACAAACTCCAGTTTTAAGTCCTTCCCTTCCTGATATGTCTCTATCCACACATTCGTCTGTTCAGGCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCCCACTATAGAGTATAATGATGGAAGACCAGCAAAGCGCCATGATATTGCACGGTCTCATTCTGAAAGTCCTTCTAGACTTCCAATCAATAGGTCAGGAACCTGGAAACGTGAGCACAGCAAACATTCATCATCCCTTCCTCGAGTAAGCACTTGGAGAAGAACTGGAAGTTCATCTTCAATTCTTTCTGCTTCATCAGAATCCAGTGAAAAAGCAAAAAGTGAGGATGAAAAACATGTGAACTCTATTTCAGGAACCAAACAAAGTAAAGAAAACCAAGTATCCGCAAAAGGAACATGGAGAAAAATAAAAGAAAATGAATTTTCTCCCACAAATAGTACTTCTCAGACCGTTTCCTCAGGTGCTACAAATGGTGCTGAATCAAAGACTCTAATTTATCAAATGGCACCTGCTGTTTCTAAAACAGAGGATGTTTGGGTGAGAATTGAGGACTGTCCCATTAACAATCCTAGATCTGGAAGATCTCCCACAGGTAATACTCCCCCGGTGATTGACAGTGTTTCAGAAAAGGCAAATCCAAACATTAAAGATTCAAAAGATAATCAGGCAAAACAAAATGTGGGTAATGGCAGTGTTCCCATGCGTACCGTGGGTTTGGAAAATCGCCTGAACTCCTTTATTCAGGTGGATGCCCCTGACCAAAAAGGAACTGAGATAAAACCAGGACAAAATAATCCTGTCCCTGTATCAGAGACTAATGAAAGTTCTATAGTGGAACGTACCCCATTCAGTTCTAGCAGCTCAAGCAAACACAGTTCACCTAGTGGGACTGTTGCTGCCAGAGTGACTCCTTTTAATTACAACCCAAGCCCTAGGAAAAGCAGCGCAGATAGCACTTCAGCTCGGCCATCTCAGATCCCAACTCCAGTGAATAACAACACAAAGAAGCGAGATTCCAAAACTGACAGCACAGAATCCAGTGGAACCCAAAGTCCTAAGCGCCATTCTGGGTCTTACCTTGTGACATCTGTTTAAAAGAGAGGAAGAATGAAACTAAGAAAATTCTATGTTAATTACAACTGCTATATAGACATTTTGTTTCAAATGAAACTTTAAAAGACTGAAAAATTTTGTAAATAGGTTTGATTCTTGTTAGAGGGTTTTTGTTCTGGAAGCCATATTTGATAGTATACTTTGTCTTCACTGGTCTTATTTTGGGAGGCACTCTTGATGGTTAGGAAAAAAATAGTAAAGCCAAGTATGTTTGTACAGTATGTTTTACATGTATTTAAAGTAGCATCCCATCCCAACTTCCTTTAATTATTGCTTGTCTTAAAATAATGAACACTACAGATAGAAAATATGATATATTGCTGTTATCAATCATTTCTAGATTATAAACTGACTAAACTTACATCAGGGAAAAATTGGTATTTATGCAAAAAAAAATGTTTTTGTCCTTGTGAGTCCATCTAACATCATAATTAATCATGTGGCTGTGAAATTCACAGTAATATGGTTCCCGATGAACAAGTTTACCCAGCCTGCTTTGCTTTACTGCATGAATGAAACTGATGGTTCAATTTCAGAAGTAATGATTAACAGTTATGTGGTCACATGATGTGCATAGAGATAGCTACAGTGTAATAATTTACACTATTTTGTGCTCCAAACAAAACAAAAATCTGTGTAACTGTAAAACATTGAATGAAACTATTTTACCTGAACTAGATTTTATCTGAAAGTAGGTAGAATTTTTGCTATGCTGTAATTTGTTGTATATTCTGGTATTTGAGGTGAGATGGCTGCTCTTTTATTAATGAGACATGAATTGTGTCTCAACAGAAACTAAATGAACATTTCAGAATAAATTATTGCTGTATGTAAACTGTTACTGAAATTGGTATTTGTTTGAAGGGTCTTGTTTCACATTTGTATTAATAATTGTTTAAAATGCCTCTTTTAAAAGCTTATATAAATTTTTTTCTTCAGCTTCTATGCATTAAGAGTAAAATTCCTCTTACTGTAATAAAAACAATTGAAGAAGACTGTTGCCACTTAACCATTCCATGCGTTGGCACTTATCTATTCCTGAAATTTCTTTTATGTGATTAGCTCATCTTGATTTTTAATATTTTTCCACTTAAACTTTTTTTTCTTACTCCACTGGAGCTCAGTAAAAGTAAATTCATGTAATAGCAATGCAAGCAGCCTAGCACAGACTAAGCATTGAGCATAATAGGCCCACATAATTTCCTCTTTCTTAATATTATAGAATTCTGTACTTGAAATTGATTCTTAGACATTGCAGTCTCTTCGAGGCTTTACAGTGTAAACTGTCTTGCCCCTTCATCTTCTTGTTGCAACTGGGTCTGACATGAACACTTTTTATCACCCTGTATGTTAGGGCAAGATCTCAGCAGTGAAGTATAATCAGCACTTTGCCATGCTCAGAAAATTCAAATCACATGGAACTTTAGAGGTAGATTTAATACGATTAAGATATTCAGAAGTATATTTTAGAATCCCTGCCTGTTAAGGAAACTTTATTTGTGGTAGGTACAGTTCTGGGGTACATGTTAAGTGTCCCCTTATACAGTGGAGGGAAGTCTTCCTTCCTGAAGGAAAATAAACTGACACTTATTAACTAAGATAATTTACTTAATATATCTTCCCTGATTTGTTTTAAAAGATCAGAGGGTGACTGATGATACATGCATACATATTTGTTGAATAAATGAAAATTTATTTTTAGTGATAAGATTCATACACTCTGTATTTGGGGAGGGAAAACCTTTTTAAGCATGGTGGGGCACTCAGATAGGAGTGAATACACCTACCTGGTGCCTTGAAAATCACATCAAGTAGTTAATTATCTACCCCTTACCTGTGTTTATAACTTCCAGGTAATGAGAATGATTTTTTTTAAAGCTAAAATGCCAGTAAATAAAAGTGCTATGACTTGAGCTAAGATATTTGACTCCAATGCCTGTACTGTGTCTACTGCACCACTTTGTAAACACTTCAATTTACTATCTTTGAAATGATTGACCTTTAAATTTTTGCCAAATGTTATCTGAAATTGTCTATGAATACCATCTACTTCTGTTGTTTTCCCAGGCTTCCATAAACAATGGAGATACATGCA)$ . 09BR005 ENSG00000108306.13 ENSG00000196535.16 -/- -/- chr17:39401361 chr17:29120758 CDS/splice-site CDS/splice-site deletion 5 5 0 85 201 high out-of-frame . |Myosin_head_(motor_domain)(100%),Myosin_tail(100%) . . ENSG00000108306.13 ENSG00000196535.16 ENST00000264658.11 ENST00000527372.6 upstream downstream . ^(GGAGAGAGCCGAGCTAGCGACGAGCAGTCGTTGCGGCCGCCGGCGCCGCGGGAGGTGGTGGAGGCCTAGCCGGAGCCGAGAGGTCTCTTGTTCCCGTCCCACGGTCCCGGCGTCACCCCTCCGGCG)CCCAGTCCCCGTCCCGGAACTCCCGGGCCTGTCCTGGGCCCCCGGTCTGTGCACTCCGCTCGCCGCAGCGCCCGGCCCGGGCCGCACCCGCCGGCCCCATGAGGAGGGACGTGAACGGAGTGACCAAGAGCAGGTTTGAG|TGGAGAAGTGGCAGGCTCTGTACACCCTCCTGGAAGCCTTTGGGAACAGCCCCACCATCATTAATGGCAATGCCACCCGCTTCTCCCAGATCCTCTCCCTGGACTTTGACCAAGCTGGCCAGGTGGCCTCAGCCTCCATTCAG___ACAATGCTTCTGGAGAAGCTGCGTGTGGCTCGGCGCCCAGCCAGTGAAGCCACATTCAACGTCTTCTACTACCTGCTGGCCTGTGGGGATGGCACCCTCAG___GACAGAGCTCCACCTCAACCACTTGGCAGAGAACAATGTGTTTGGGATTGTGCCACTGGCCAAG___CCTGAGGAAAAGCAGAAGGCAG(CTCAGCAGTTTAGTAAGCTGCAGGCGGCCATGAAGGTGCTGGGCATCTCCCCCGATGAACAGAAGGCCTGCTGGTTCATTCTGGCTGCCATCTACCACCTGGGGGCTGCGGGAGCCACCAAAG___AAGCTGCTGAAG___CTGGGCGCAAGCAGTTTGCCCGCCATGAGTGGGCCCAGAAGGCTGCGTACCTACTGGGCTGCAGCCTGGAGGAGCTGTCCTCAGCCATCTTCAAGCACCAGCACAAGGGTGGCACCCTGCAGCGCTCCACCTCCTTCCGCCAGGGCCCCGAGGAGAGTGGCCTGGGAGATGGGACAG___GCCCGAAACTGAGTGCACTGGAGTGCCTTGAGGGCATGGCGGCCGGCCTCTACAGCGAGCTCTTCACCCTTCTCGTCTCCCTGGTGAATAG___GGCTCTCAAGTCCAGCCAGCACTCACTCTGCTCCATGATGATTGTCGACACCCCGGGCTTCCAGAACCCTGAGCAGGGTGGGTCAGCCCGCGGAGCCTCCTTTGAGGAGCTGTGCCACAACTACACCCAAGACCGGCTGCAGAGGCTCTTCCACGAGCGCACCTTCGTGCAGGAGTTGGAAAGATACAAGGAG___GAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTG___GTCCGCTCGCTGGCCCGCACAGACGAGGCGAGGGGCCTGCTCTGGCTATTGGAAGAGGAGGCTCTGGTGCCAGGGGCCAGTGAGGACACCCTCCTGGAGCGCCTTTTCTCCTATTATGGCCCCCAGGAAGGTGACAAAAAAG___GCCAAAGCCCCCTTCTGCACAGCAGCAAACCACACCACTTTCTCCTGGGCCACAGCCATGGCACCAACTGGGTAGAGTACAATGTGACTGGCTGGCTGAACTACACCAAGCAGAACCCAGCCACCCAGAATGCCCCCCGGCTCCTGCAGGACTCCCAGAA___AAAAATCATCAGCAACCTGTTTCTGGGCCGCGCAGGCAGTGCCACGGTGCTCTCTGGCTCCATCGCGGGCCTGGAGGGCGGCTCGCAGCTGGCACTGCGCCGGGCCACCAGCATGCGGAAAACCTTTACCACAGGCATGGCGGCTGTCAAAAAGAAGTCACTGTGCATCCAGATGAAGCTACAGGTG___GACGCCCTCATCGACACCATCAAGAAGTCAAAGCTGCATTTTGTGCACTGCTTCCTGCCTGTAGCTGAGGGCTGGGCTGGGGAGCCCCGTTCCGCCTCCTCCCGCCGAGTCAGCAGCAGCAGTGAGCTGGACCTGCCCTCGGGAGACCACTGCGAGGCTGGGCTCCTGCAGCTCGACGTGCCCCTGCTCCGCACCCAGCTCCGCGGCTCCCGCCTGCTCGATGCCATGCGCATGTACCGCCAAG___GTTACCCTGACCACATGGTGTTTTCCGAGTTCCGCCGCCGCTTTGATGTCCTGGCCCCGCACCTGACCAAGAAACACGGGCGTAACTACATCGTGGTGGATGAAAGGCGG___GCAGTGGAGGAGCTGCTGGAGTGCTTGGATCTGGAGAAGAGCAGCTGCTGCATGGGCCTGAGCCGG___GTGTTCTTCCGGGCGGGCACCTTGGCACGGCTGGAGGAGCAGCGGGATGAACAAACCAGCAGGAACCTAACCCTGTTCCAAGCAGCCTGCAGGGGCTACCTGGCCCGCCAGCACTTCAAGAAGAGAAAG___ATCCAGGACCTGGCCATTCGCTGTGTACAGAAGAACATCAAGAAGAACAAAGGGGTGAAGGACTGGCCCTGGTGGAAGCTTTTTACCACAGTGAGGCCCCTCATCGAAGTACAGCTGTCAGAGGAGCAGATCCGGAACAAAGAC___GAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCCGG___ATCTCAGAGCTGACATCGGAGCTGACAGATGAGCGTAACACAGGAGAGTCCGCCTCCCAGCTGCTGGACGCGGAGACAGCAGAGAGGCTCCGGGCTGAGAAGGAGATGAAGGAACTGCAG___ACCCAGTACGATGCACTGAAGAAGCAGATGGAGGTTATGGAAATGGAGGTGATGGAGGCCCGTCTCATCCGGGCAGCGGAGATCAACGGGGAAGTGGATGATGATGATGCAG___GTGGCGAGTGGCGGCTGAAGTATGAGCGGGCTGTGCGGGAGGTGGACTTCACCAAGAAACGGCTCCAGCAGGAGTTTGAGGACAAGCTGGAGGTGGAGCAGCAGAACAAGAGGCAGCTGGAACGGCGG___CTCGGGGACCTGCAGGCAGATAGTGAGGAGAGTCAGCGGGCTCTGCAGCAGCTCAAGAAGAAGTGCCAGCGACTGACGGCTGAGCTGCAAGACACCAAGCTGCACCTGGAGGGCCAGCAGGTCCGCAACCACGAACTGGAGAAGAAGCAGAGGAG___GTTTGACAGTGAGCTCTCGCAGGCGCATGAGGAGGCCCAGCGGGAGAAGCTGCAGCGGGAGAAGCTGCAGCGGGAGAAGGACATGCTCCTCGCTGAGGCTTTCAGCCTGAAGCAGCAACTAGAG___GAAAAAGACATGGACATTGCAGGGTTCACCCAGAAGGTTGTGTCTCTAGAGGCAGAGCTCCAGGACATTTCTTCCCAAGAGTCCAAGGATGAGGCTTCTCTGGCCAAGGTCAAGAAACAGCTCCGGGACCTGGAGGCCAAAGTCAAGGATCAGGAAGAAGAGCTGGATGAGCAGGCAGGGACCATCCAGATGCTGGAACAG___GCCAAGCTGCGTCTGGAGATGGAGATGGAGCGGATGAGACAGACCCATTCTAAGGAGATGGAGAGTCGGGATGAGGAGGTGGAGGAGGCCCGGCAGTCGTGTCAGAAGAAG___TTAAAACAGATGGAGGTGCAGCTAGAGGAAGAGTATGAGGACAAGCAGAAGGTTCTGCGAGAGAAGCGGGAGCTGGAGGGCAAGCTCGCCACCCTCAGCGACCAG___GTGAACCGGCGGGACTTTGAGTCAGAGAAGCGGCTGCGGAAGGACCTGAAGCGCACCAAGGCCCTGCTGGCAGATGCCCAGCTCATGCTGGACCACCTGAAGAACAGTGCTCCCAGCAAGCGAGAGATTGCCCAGCTCAAGAACCAG___CTGGAGGAGTCAGAGTTCACCTGTGCGGCAGCCGTGAAAGCACGGAAAGCAATGGAGGTGGAGATCGAAGACCTGCACCTGCAGATTGATGACATCGCCAAAGCCAAGACAGCG___CTGGAGGAGCAGCTGAGCCGCCTTCAGCGTGAGAAGAATGAGATCCAGAACCGGCTGGAGGAAGATCAGGAAGACATGAACGAATTGATGAAGAAGCACAAGGCTGCCGTGGCTCAG___GCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAG___CTACAAGCCCTCCAGAGCCAGGTGGAGTTCCTGGAGCAGTCCATGGTGGACAAGTCCCTGGTGAGCAGGCAGGAAGCTAAGATACGGGAGCTGGAGACACGCCTGGAGTTTGAAAGGACGCAAGTGAAACGGCTGGAG___AGCCTGGCTAGCCGTCTCAAGGAAAACATGGAGAAGCTGACTGAGGAGCGGGATCAGCGCATTGCAGCCGAGAACCGGGAGAAGGAACAGAACAAGCGGCTACAGAGGCAGCTCCGGGACACCAAGGAGGAGATGGGCGAGCTTGCCAGGAAGGAGGCCGAGGCGAGCCGCAAGAAGCACGAACTG___GAGATGGATCTAGAAAGCCTGGAGGCTGCTAACCAGAGCCTGCAGGCTGACCTAAAGTTGGCATTCAAGCGCATCGGGGACCTGCAGGCTGCCATTGAGGATGAGATGGAGAGTGATGAGAATGAGGACCTCATCAACAG___TTTGCAGGACATGGTGACAAAGTATCAGAAAAGAAAGAATAAACT___TGAGGGAGACTCTGATGTGGACTCGGAGCTGGAGGACCGTGTTGACGGGGTCAAGTCCTGGTTGTCAAAAAACAAGGGACCTTCCAAGGCAGCTTCTGATGATGGCAGCTTAAAGAGTTCCAG___CCCCACCAGCTACTGGAAGTCCCTTGCCCCTGATCGGTCAGATGATGAGCACGACCCTCTCGACAACACCTCCAGACCGCGATACTCCCACAGTTATCTGAGTGACAGCGACACAGAGGCCAAGCTGACGGAGACTAACGCATAGCCCAGGGGAGTGGTTGGCAGCCCTCTCACCCCAGGGCCTGTGGCTGCCTGGGCACCTCTCCCAGGAAGTGGTGGGGCACCGGTCTCCCCCACCCGACTGCTGATCTGCATGGGAAACACCCTGACCTTCTTCTGTCAGGGGCACTTTCCAGGCTATGGGTGTCTGATGTCTCCACGTGGAAGAGGTGGGGGAAAGAGGAGTTTCTGAAGAGAACTTTTTGCTCCTCTGTCTCAAAATGCCAGACTCTTGGCTTCTACCCTGTGTCACCGTGGGCAGTGGCAGGTGGCCTGGCACTGCATGGAGCCAGCACGTTGACCTCCCTCTCAGCTCCCTGCTCAGGGACGGTGGACAGGTTGCCTACTGGGACACTCTAGGTTGCTGGGTCCATGGGGAGGATTGGGGGAGGAGAAGCAGTGCCTTCCCTCTCGTGTGGGGTGGGGGCTCTCTCTTCTTGGTGCCTGCTGTCTTTCTACTTTTTAATTTAAATACCCAACCTCTCCATCACAGCTGCATCCCTGAGAGTGGGAGGGGGCTGTAGTGGTAGCTGGGGCTCCCAAGAACGACTCGGGAATGTCATCTCCATCTTCACCCTTCAGAGAGCAGTCCTTTCTCTGTGCAGCTGGAGACGCTGGTGAGGAGAGCCGGGTCCAGGTTCTTAAGAATGAGGTGCGGAGGGGCTCTCCGGTGCTGCTGGGCTGGGTTGAGCAAGCCTACGCAGACAAGTGTGTGTGTGGACCATCCGCACCTCCAGCCCCCACCCCACCCTCTTTGTCTCAGCGTGTTATGTGCAATGACCTATTTAAGGTAAACCCATTCCAACTACAGCAGTTCAGGGCTGATCCAAGCACTGCCTCCCTCCTGCTCTGTCCAGGTGGTCTGGACCATAAACTCAACTTGAGAGGGAAGGCTTGGGGTTGAGGACTTGTGATCAGAAAAACTGAAGATGGAAGTTTTGGCCGGTGCTCATTAGACATGAGTCCTCACTCTGTGTCCTGAGCCCGTGTCATTCTTCCAACCTCCCTGCCCCCACACACTTATCCCAGACACAACACCATGTGGTCTGGAGGTCCCAGCCCCCACCCTAAAAAGGTTATCCCTGAGAACTCCACCAGACTTGGGAGCCCAAGTGCAGTGCCTGGTGCTGCTCCCATCTGCCGCCCCCCTTCTCTCCTGCAATTGGTTTGTACTCACTGGGCTGTGCTCTCCCCTGTTTACCCGATGTATGGAAATAAAGGCCCTTTTCCTCCTGGCTGCGCCAGTTTTCCTGCCTGTTCCTTCAGGCTCAGGCAAAGTCTGGATTGGTCCTGGGGGTGGTGGGCAGAGGCAGGATTCTGATGGGGACCGTGAGGGCATCACCCTGGTCTCTGGCCTGCTCCCCAAAGTGTCAGACCAGTGCCACTTAAAGAGCCTAGGCAGCTCATTTTGGGGCAGGCAGAGGTAGTGGAATGAGGGGATTGGCCAAGGAAGACACAAGCCCCACCTTTTATGTGAAGAGCCTAGGGACTGTGATTCAGGTTAGCAAGGGTGGCAGAGACTCCAAGCCTCATCCTCCCTAGCCTCCACAAGGGAATGTTGAGGTCCCTCTGATTGTTAAATCTCACCAATTACAGAGATTCTCTTCTCTTCTCTTCTCTTCCTCCTTCCGTCCCTCCCTCTCTCCCTCTCTCTCTCTCTTTCTTTCTTTCATTCTCTTTCTTTTTGGATTCAAGCCCTTCTCATTAGAACATTTTTTAAAAGCTTAATTTTAGCCATTTCAAAGGTGACTTTTTGATCAAAACTTGGCAGAACTAGCTCGGGCCCACAGGGCAATGTGAATAGGTTGGGAGTGCTGTCTCTGCCCTGCTCGGTCCCTGTCTTCATGCCCTACTCCATGCTTTGTTCCTTCATTGACAGCTAAGAGGCAGCTCATGCAGAAAGGCAAGAAACAAATGACACCCCTCCTCCTCTTCTACCTTCTACCTTCTCATTCTGTAGTGTGGCCAGTTATAATCCCTGAATGAATAAAGTAGTTTGGACAGATGGGTGGGAAAAAATAGCAAACAGCCCAAGTGCCGAGGCTCTGATAATGTCAGCCATCCAGAAAGAGTCCAAAAGGGAAGAAGGGAGAAAAGTCTCCCCCAAAATGAATGGGACAGAGTGTGAAGTGGATCTGTCTCGAACAGAGACTGCCCCCTCCATTGCCCCACGATAGAACAGAGAAGAGGATAGAAACAATAGTAAAAGGGAAGTTACTTGTCTTTTGGAGACAGAGTCTTGCTATGTCGCCCAAGCTGGAATGCAGTGGCATGATCTCAACTCACTGCAACCTCTACCTCCCGAGGTTCAAGCGATTCTCCTGCCTAAACCCTCCGAGTAGCTGGGACTTAACAGACGTGTACCACCACGCCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCGCCATGTTGAGCAGGCTGGTCTCGAACTTCTGACCTCAAGTGATCTGCCTGCCTCGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACTGTGCCTGGCCTAAGTTACTTTTTTTTACAAAAAAAAAAAAAAAAAAAAAAAGGCTGCTAGCTTATGTTCAGTTCTGTCACTCTCATCTTTTATTCCTGTTTTCACATAGCGTGGTACATTTTCTGTTTCTACTAGGGACTAGTGTGACAAACTCCCTGCCACCTTTAGATGAATTCCCAAATCTGTTCACTCATACTGAGTCAAGCCTCTGGTTAACTGGAAACTCCAACATCAACCTCCAATAACCCGGCCTGGGGTAAAAAGCTTTGTTCAAGTCAGAAAACATATTCATTTGCTTAACAGTTGAGAAATATTTCATGACTGCCTGCTGTGCCTAGGCCCCATTCTGGGTGCTGGTGATGGATAAGGTCCCTTCCTTCATAAAGTGGAGGAAGGTAGACACAAAATACATGCTGCACCTGCTAGTATGCATAAGCTTAGAGTGGGTAGAGAGGAACACATCATAGTATCCATCCTCCAGGGTTTTGCGGACGAGGGCTGGAGCAGACCCATGTGGAAATAATTACATAAGACCTAACAAGGATGAAGAGGTTGCTTTGGACATACTATGGAGGGAGATGCTCTCTTTGGCGGGGAGGATTGGGAAAGCCTCTAAAAGGAGCTGCTATTTTGACCAGGGCTTGAAAATAGCACTTCCACAGGTACAGTTGCTGGGAAAGGCATATTGAGAAGAAGAAGAGTTTAAGTAAAGGTCCTGGGGCAGGGAAAGAGAGGTGCTGGTAGAACATGCCACAGGCTGGCTGTGCATTGTCACATGACCAGTGCTTCTCCAAGTTTCAGTTGAGAAGGAGACAATTCCCTTGGCCCCAGAGGAGTCCAGGAGCCTTTAGGGCCACCAAAGCCCATCTTTATTTTGGGTGTACCTTGAAGGCTCTGCTGTTGACCTTACCTGTACACTCATGGTACCTCTGGTCCCTAAGATGTTGCAGAAGGCAAATCTGGCCCTTTGCCAGGCTCAAAGCCAGCCTGCTAGATCCTCCTCTATAACTGCAGATCCCCGGGATTGCTCTGACTCCTGAATAAGCATGGGCGGGAACCAGTGCCCCTGTGGGACTCCCCATGGTGCCCAGTCTGTGCCCAGAAAATAAAGTGGCAGGCAGTGACCCCTA)$ MRRDVNGVTKSRFE|wrsgrlctpswkplgtappslmamppasprsspwtltklarwpqppfrqcfwrscvwlgaqpvkphstssttcwpvgmapsgqsststtwqrtmclglchwpslrksrrqlsslvscrrp* 09BR005 ENSG00000083799.17 ENSG00000285775.1(15046),ENSG00000259283.2(195605) +/+ ./- chr16:50784451 chr16:55064364 CDS/splice-site intergenic inversion 7 2 0 65 7 high out-of-frame . CAP-Gly_domain(100%),Phosphorylation_region_of_CYLD__unstructured(100%),Ubiquitin_carboxyl-terminal_hydrolase(100%)| . . ENSG00000083799.17 . ENST00000427738.7 . downstream downstream duplicates(1) ^(AGTTTCCCCCTTTCTAGGGTGAGGATGGTTCTACACAGCCACCCGGAGTTCCTTAGTTGAAAGGTGCGCCCTGCTGTGACAG___CATGGACACCACGTTGCTGAAAACATGCTTTGGGACTGCCACTGAATTTATCTTTTGCGGTTTTATGACAAAGTTATTAGTAGTTTCCCTTTTTTGAATTAGTATTTTGAAGTTAATATCACAATGAGTTCAGGCTTATGGAGCCAAGAAAAAGTCACTTCACCCTACTGGGAAGAGCGGATTTTTTACTTGCTTCTTCAAGAATGCAGCGTTACAGACAAACAAACACAAAAGCTCCTTAAAGTACCGAAGGGAAGTATAGGACAGTATATTCAAGATCGTTCTGTGGGGCATTCAAGGATTCCTTCTGCAAAAGGCAAGAAAAATCAGATTGGATTAAAAATTCTAGAGCAACCTCATGCAGTTCTCTTTGTTGATGAAAAGGATGTTGTAGAGATAAATGAAAAGTTCACAGAGTTACTTTTGGCAATTACCAATTGTGAGGAGAGGTTCAGCCTGTTTAAAAACAGAAACAGACTAAGTAAAGGCCTCCAAATAGACGTGGGCTGTCCTGTGAAAGTACAGCTGAGATCTGGGGAAGAAAAATTTCCTGGAGTTGTACGCTTCAGAGGACCCCTGTTAGCAGAGAGGACAGTCTCCGGAATATTCTTTGGAGTTGAATTGCTG___GAAGAAGGTCGTGGTCAAGGTTTCACTGACGGGGTGTACCAAGGGAAACAGCTTTTTCAGTGTGATGAAGATTGTGGCGTGTTTGTTGCATTGGACAAGCTAGAACTCATAGAAGATGATGACACTGCATTGGAAAGTGATTACGCAGGTCCTGGGGACACAATGCAGGTCGAACTTCCTCCTTTGGAAATAAACTCCAGAGTTTCTTTGAAGGTTGGAGAAACAATAGAATCTGGAACAGTTATATTCTGTGATGTTTTGCCAGGAAAAGAAAGCTTAGGATATTTTGTTGGTGTGGACATG___GATAACCCTATTGGCAACTGGGATGGAAGATTTGATGGAGTGCAGCTTTGTAGTTTTGCGTGTGTTGAAAGTACAATTCTATTGCACATCAATGATATCATCCCAG___CTTTATCAG___AGAGTGTGACGCAGGAAAGGAGGCCTCCCAAACTTGCCTTTATGTCAAGAGGTGTTGGGGACAAAGGTTCATCCAGTCATAATAAACCAAAGGCTACAG___GATCTACCTCAGACCCTGGAAATAGAAACAGATCTGAATTATTTTATACCTTAAATGGGTCTTCTGTTGACTCACAACCACAATCCAAATCAAAAAATACATGGTACATTGATGAAG___TTGCAGAAGACCCTGCAAAATCTCTTACAGAGATATCTACAGACTTTGACCGTTCTTCACCACCACTCCAGCCTCCTCCTGTGAACTCACTGACCACCGAGAACAGATTCCACTCTTTACCATTCAGTCTCACCAAGATGCCCAATACCAATGGAAGTATTGGCCACAGTCCACTTTCTCTGTCAGCCCAGTCTGTAATGGAAGAGCTAAACACTGCACCCGTCCAAGAGAGTCCACCCTTGGCCATGCCTCCTGGGAACTCACATGGTCTAGAAGTGGGCTCATTGGCTGAAGTTAAGGAGAACCCTCCTTTCTATGGGGTAATCCGTTGGATCGGTCAGCCACCAGGACTGAATGAAGTGCTCGCTGGACTGGAACTG___GAAGATGAGTGTGCAGGCTGTACGGATGGAACCTTCAGAGGCACTCGGTATTTCACCTGTGCCCTGAAGAAGGCGCTGTTTGTGAAACTGAAGAGCTGCAGGCCTGACTCTAGGTTTGCATCATTGCAGCCGGTTTCCAATCAGATTGAGCGCTGTAACTCTTTAG___CATTTGGAGGCTACTTAAGTGAAGTAGTAGA)AGAAAATACTCCACCAAAAATGGAAAAAGAAGGCTTGGAGATAATGATTGGGAAGAAGAAcGGCATCCAGGGTCATTACAATTCTTGTTACTTAGACTCAACCTTATTCTG___CTTATTTGCTTTTAGTTCTGTTCTGGACACTGTGTTACTTAGACCCAAAGAAAAGAACGATGTAGAATATTATAGTGAAACCCAAGAGCTACTGAGGACAGAAATTGTTAATCCTCTGAGAAT|ATTCTGAAGATGGAAGCTGAGGCATCGATTTGAGACCATTGATTCTTTCATACTAGAAATTTCCCTGTATACTATTTTAGCTGTATCACACACATTTTTATATTTGGTCTTTTCATTTACATTCATTTCAAGAAATTTTTCTAATTTTCCTTTGATACATGCTTTATTGAGCAGTGTATTATTTAGTTTAGGTTTCAAATATTTGGGGGGTTTCCAGATATTTTTCTGCTATTGAGTTTTAATGCAATTCCATGGG MSSGLWSQEKVTSPYWEERIFYLLLQECSVTDKQTQKLLKVPKGSIGQYIQDRSVGHSRIPSAKGKKNQIGLKILEQPHAVLFVDEKDVVEINEKFTELLLAITNCEERFSLFKNRNRLSKGLQIDVGCPVKVQLRSGEEKFPGVVRFRGPLLAERTVSGIFFGVELLEEGRGQGFTDGVYQGKQLFQCDEDCGVFVALDKLELIEDDDTALESDYAGPGDTMQVELPPLEINSRVSLKVGETIESGTVIFCDVLPGKESLGYFVGVDMDNPIGNWDGRFDGVQLCSFACVESTILLHINDIIPALSESVTQERRPPKLAFMSRGVGDKGSSSHNKPKATGSTSDPGNRNRSELFYTLNGSSVDSQPQSKSKNTWYIDEVAEDPAKSLTEISTDFDRSSPPLQPPPVNSLTTENRFHSLPFSLTKMPNTNGSIGHSPLSLSAQSVMEELNTAPVQESPPLAMPPGNSHGLEVGSLAEVKENPPFYGVIRWIGQPPGLNEVLAGLELEDECAGCTDGTFRGTRYFTCALKKALFVKLKSCRPDSRFASLQPVSNQIERCNSLAFGGYLSEVVEENTPPKMEKEGLEIMIGKKnGIQGHYNSCYLDSTLFCLFAFSSVLDTVLLRPKEKNDVEYYSETQELLRTEIVNPLRi|f* 09BR005 ENSG00000176771.17 ENSG00000178568.15 -/- -/+ chr2:133517458 chr2:212389477 CDS/splice-site intron inversion/5'-5' 2 5 2 28 19 high out-of-frame . . . . ENSG00000176771.17 ENSG00000178568.15 ENST00000409261.6 . upstream upstream . GTTCATCGTGAAGAATAAATGAGATAAGCTACCTCAAGTGCCTGTACCAAAATAGACTCACAATACAT___TGACCCTGGAAACAGACGGGGGATTCTTATAAGTCACAAAAGAAAATAAATAACTTCATCCATGGAGGGAAAGAGACAGCTTGAGAAAAGGGACTTTGGAAAAAGGCTGTCTCTAGACAGCAGTCTTGTG|TTACCATAAGAAAGCCTGAAAAATTCAACTCTGGTCAATCAGCACTCTATGGGATAAAAGAATTCACTCACTCACTCATTTCTTTATACAATACTTTAGCAAATATGGAACACTGTGTATTTGCTAAGCACTCTCCCAGGCACTGGAAATATAACA___ATGGAGTCTCGCTCTGTCACCAATC MEGKRQLEKRDFGKRLSLDSSLV|lp* 09BR005 ENSG00000244045.13 ENSG00000171446.7(1027),ENSG00000173908.9(8619) +/+ ./+ chr17:28360847 chr17:40783577 CDS/splice-site intergenic deletion 2 5 2 153 31 high out-of-frame . . . . ENSG00000244045.13 . ENST00000292114.8 . downstream upstream duplicates(2),mismatches(1) ^(ACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGG___ATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGG___AACCCAGAACTAGTTGCCCGGCTGGAGA)AGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAG___GATACAAGACATGGTGGGACTCTCAGCGACCTGGGAAAGCAAG___TGAGATCATTGAAGGCTCTGGTCATCACCATCTTCAATTTCATTGTCACGGTGGTTGCTGCCTTCGTCTGCACTTACCTTGGAAGCCAATATATCTTCACAGAAATGGCCTCG|GGTCTCGTTTTGTCACCCAGGCCAGAGTGCAGTGACATGATCACAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCTCAGCCTACCAAATATCTGGGACTACAGGCACACGCCACTATGCCTGGCTAATCTGTGTATTTTTTTGTAGAGTTGGGGTTTGCCATGTTGTCCAGGCTGGTCTTGAATGCCTGGGCTCGACAGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCAGtAGCCACCTCACTGTCTTAATGTAAATTTTCCCGCACTGACTTGTCCGTTCTGTTTTACTACTTC MASSLLAGERLVRALGPGGELEPERLPRKLRAELEAALGKKHKGGDSSSGPQRLVSFRLIRDLHQHLRERDSKLYLHELLEGSEIYLPEVVKPPRNPELVARLEKIKIQLANEEYKRITRNVTCQDTRHGGTLSDLGKQVRSLKALVITIFNFIVTVVAAFVCTYLGSQYIFTEMAS|glvlsprpecsdmitahcslnlpgssdpptsayqisgttgtrhyawlicvffcrvgvchvvqagleclgstdpptlasqsagiigsshltvlm* 09BR005 ENSG00000258924.4 ENSG00000171446.7(1027),ENSG00000173908.9(8619) +/+ ./+ chr17:28360847 chr17:40783577 exon/splice-site intergenic deletion 2 5 2 153 31 high . . . . . ENSG00000258924.4 . ENST00000591482.1 . downstream upstream duplicates(2),mismatches(1) ^(ACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGG___ATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGG___AACCCAGAACTAGTTGCCCGGCTGGAGA)AGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAG___GATACAAGACATGGTGGGACTCTCAGCGACCTGGGAAAGCAAG___TGAGATCATTGAAGGCTCTGGTCATCACCATCTTCAATTTCATTGTCACGGTGGTTGCTGCCTTCGTCTGCACTTACCTTGGAAGCCAATATATCTTCACAGAAATGGCCTCG|GGTCTCGTTTTGTCACCCAGGCCAGAGTGCAGTGACATGATCACAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCTCAGCCTACCAAATATCTGGGACTACAGGCACACGCCACTATGCCTGGCTAATCTGTGTATTTTTTTGTAGAGTTGGGGTTTGCCATGTTGTCCAGGCTGGTCTTGAATGCCTGGGCTCGACAGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCAGtAGCCACCTCACTGTCTTAATGTAAATTTTCCCGCACTGACTTGTCCGTTCTGTTTTACTACTTC . 09BR005 ENSG00000171475.14 ENSG00000265460.6 +/+ +/+ chr17:40265146 chr17:39243201 CDS/splice-site exon/splice-site duplication 6 3 0 251 40 high out-of-frame . WH2_motif(100%)| . . ENSG00000171475.14 ENSG00000265460.6 ENST00000323571.9 ENST00000579400.6 downstream upstream . ^(ATTTTGTTCGCGGACGCTGGGGACGGTGGGAGCAGATCCATTTCCGGGTTGGCAAAAGGGGCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGACGGCGAGAAAGAGCTTGCCGGGGGGCGAGCAGGACAGGACGAAGCCGGAGTGTAGGCGGCAGAGGATTCGCTCCCAGAGCAGCTGCGGCCAG___GTATATGAATGACCTAAAGGTACAAATAAAGACGGAGAGAGAACAGTGCCAACTGGGAGCAGGGCAAGAATGCCAATTCCTCCTCCCCCGCCACCCCCACCTGGTCCTCCTCCACCTCCCACATTTCATCAG___GCAAACACAGAGCAGCCCAAGCTGAGTAGAGATGAGCAGCGGGGTCGAGGCGCCCTCTTACAGGACATTTGCAAAGGGACCAAGCTGAAGAAGGTGACCAACATTAATGATCGGAGTGCTCCCATCCTCGAGA___AGCCGAAAGGAAGCAGTGGTGGCTATGGCTCTGGAGGAGCTGCCCTGCAGCCCAAGGGAGGTCTCTTCCAAGGAGGAGTGCTGAAGCTTCGACCTGTGGGAGCCAAGGATGGTTCAG___AGAACCTAGCTGGTAAGCCAGCCCTGCAAATCCCCAGTTCTCGAGCTGCTGCCCCAAGGCCTCCAGTATCTGCCGCCAGCGGGCGTCCTCAGGATGATACAGACAGCAGCCGGGCCTCACTCCCAGAACTGCCCCGGATGCAGAGACCCTCTTTACCGGACCTCTCTCGGCCTAATACCACCAGCAGTACGGGCATGAAGCACAGCTCCTCTGCCCCTCCCCCACCACCCCCAGGGCGGCGTGCCAACGCACCCCCCACACCTCTGCCTATGCACAGCAGCAAAGCCCCCGCCTACAACAGAGAGAAACCCTTGCCACCGACGCCTGGACAAAGGCTTCACCCTGGTCGAGAGGGACCTCCTGCTCCACCCCCAGTCAAACCACCTCCTTCCCCTGTGAATA)TCAGAACAGGACCAAGTGGCCAGTCTCTGGCTCCTCCTCCTCCGCCTTACCGCCAGCCTCCTGGGGTCCCCAATGGACCCTCTAGCCCCACTAATGAGTCAGCCCCTGAGCTGCCACAGAGACACAATTCTTTGCATAGGAAGACACCAGGGCCTGTCAGAGGCCTAGCACCTCCTCCACCCACCTCGGCCTCCCCATCTTTACTGAGTAATAGGCCACCTCCCCCAGCCCGAGACCCTCCCAGTCGGGGAGCAG|TTCACACCTCGGAAGAAAGGTGGAGAGAAAGGCATCCCTTTCCGCCTCCAGATCGACACCTTCAGGCCCAGTGACAAGGGGCTGCCGCTAGACCACCTGCACTCAGCTGGCTGCCTCATCAAGGTGTTTAAGGTACAGGCAGCA(___AAGGAGCGGAAACTGAAAATGGACCGTGAGAAGATGGAGAAACAGCCCCTGCATGAGAGGGACAAGTATCAGACCGCCTGCGAGAGCACTGTCTTCTTGGAG___TGTTCGCCATGGCCGGAGTCCCCTGCAAGGCCCCGGCCACCTCTCAGCTCTCTGGCTCTGACCTCTCCCCACTCCTGCAGGCTCTTGTCCCCAGAAAG___AAGCCTTCTCCGCAGCTTCATCTCAAGCTCCAGAATGGAGTGGCCCTGCCCCCT___CCCATCTCAGAGACACAGCAATGGTTGCATCAGCACTGGTTCTCCAGCTACTGCCGGATGCTGGCCAACTTCACTG___GTCTGGATCTGCTGAAGCTTACATGCCAGGACCTTATCCAAATCTGCGGGGCTGCTGATGGGATCCGCCTTTTCAATACTCTTAGAGCCAGG)$ MPIPPPPPPPPGPPPPPTFHQANTEQPKLSRDEQRGRGALLQDICKGTKLKKVTNINDRSAPILEKPKGSSGGYGSGGAALQPKGGLFQGGVLKLRPVGAKDGSENLAGKPALQIPSSRAAAPRPPVSAASGRPQDDTDSSRASLPELPRMQRPSLPDLSRPNTTSSTGMKHSSSAPPPPPPGRRANAPPTPLPMHSSKAPAYNREKPLPPTPGQRLHPGREGPPAPPPVKPPPSPVNIRTGPSGQSLAPPPPPYRQPPGVPNGPSSPTNESAPELPQRHNSLHRKTPGPVRGLAPPPPTSASPSLLSNRPPPPARDPPSRGA|vhtseerwrerhpfpppdrhlqaq* 09BR005 ENSG00000131759.18 ENSG00000214546.4 +/+ +/- chr17:40309286 chr17:39622205 5'UTR/splice-site exon inversion/3'-3' 4 5 0 101 32 high . . . . . ENSG00000131759.18 ENSG00000214546.4 ENST00000254066.10 . downstream downstream duplicates(2) ^(GCAGCAGCCTAAC)CCAGAAGCAGGGGGGAATCCTGAATCGAGCTGAGAGGGCTTCCCCGGTTCTCCTGGGAACCCCATCGGCCCCCTGCCAGCACACACCTGAGCAG|GTTTCTCTCTCTCAGTCCCGCCGGTTTGGACAGTTCTCGGAAGCAGTAGAGATCGATGTGCGGAGGCTGCCCTCTGGTGGCACAAACGAGTACAGCAGTATATGTGCCCTCTGGCGCCCCCAGGTGGGAGCTGGGAAGTTGAGAAGAGAGCAAGCTGCAGCCCACAGCAGGGGTAGC . 09BR005 ENSG00000103494.14 ENSG00000118557.16 -/- -/+ chr16:53636439 chr16:72154226 CDS/splice-site CDS inversion/5'-5' 1 7 0 12 15 high out-of-frame . C2_domain(100%),First_C2_domain_of_RPGR-interacting_protein_1(100%)| . . ENSG00000103494.14 ENSG00000118557.16 ENST00000262135.9 . upstream upstream . ^(ATGTTTCTCCCGTGCTCCTCTCGGCCAGCCGCCCGCCACGCTGTCGGCGCTATAGCAACGGTAGCTAGCTGCAGGGCCAGTGGCACG___CTAGGCCATGTCTGGTCCAACTGATGAGACTGCAGGAGACTTGCCTGTGAAAGATACAGGTCTAAACCTCTTTGGAATGGGAGGGTTACAAG___AAACTTCAACAACACGGACAATGAAGTCTCGCCAGGCAGTGTCACGTGTCAGTCGTGAGGAACTGGAAGACAGATTTTTGCGTTTGCATGATGAGAACATTTTACTTAAACAGCATGCCCGCAAGCAGGAGGATAAAATTAAAAG___AATGGCCACCAAGTTAATACGGCTAGTTAATGACAAGAAAAGATATGAGCGGGTTGGTGGCGGCCCCAAGCGGCTGGGACGAGATGTGGAAATGGAAGAAATGATTGAGCAGCTGCAAGAGAAAGTTCATGAGCTTGAAAAACAAAATGAAACCCTCAAAAACAGACTGATTTCAGCCAAACAGCAACTTCAAACCCAGGGTTACAGGCAAACTCCATACAATAATGTACAATCTCGTATTAACACTGGGCGTAGAAAAGCAAATGAAAATGCTGGTTTACAGGAATGCCCCAGGAAAG___GTATAAAATTCCAAGATGCAGATGTAGCAGAAACTCCACATCCCATGTTTACAAAATATGGCAACAGTTTACTTGAAGAAGCCAGAGGAGAAATAAGAAATTT___AGAAAACGTTATTCAGTCACAAAGAGGCCAGATAGAGGAGTTAGAGCACTTGGCTGAGATCCTGAAAACTCAGTTGAGGAGAAAAGAAAATGAAATTGAGTTATCTCTTCTTCAGCTTCGAGAACAGCAAGCTACAGATCAAAG___GTCAAATATTCGGGACAATGTAGAAATGATTAAGCTTCATAAACAGCTAGTAGAGAAAAGCAATGCTCTTTCAGCAATGGAAGGAAAATTTATTCAGCTTCAAGAG___AAGCAAAGAACTCTCAGAATCAGCCACGATGCTTTGATGGCAAATGGGGATGAATTAAACATGCAACTTAAAGAGCAGCGTTTAAAATGCTGCAGTCTTGAGAAACAATTACATTCTATGAAGTTTTCTGAAAGAAGAATAGAAGAG___CTGCAGGATAGAATTAATGATTTAGAAAAGGAACGGGAACTTTTAAAGGAAAACTATGATAAACTTTATGACAG___TGCCTTCAGTGCTGCCCATGAAGAGCAATGGAAGTTAAAGGAGCAACAGCTGAAAGTGCAGATTGCTCAGCTCGAGACTGCCTTGAAGTCTGACTTAACAGACAAAACTGAAATCCTTGACAGATTAAAAACTGAAAGAG___ATCAAAATGAAAAACTCGTTCAAGAGAATAGAGAACTACAGTTACAGTATCTGGAACAAAAGCAACAACTTGATGAACTTAAAAAACGCATAAAATTGTACAACCAG___GAGAATGATATTAATGCTGATGAATTGAGTGAAGCTCTCCTACTTATAAAG___GCTCAAAAAGAACAAAAAAATGGAGACCTTTCCTTTTTAGTGAAAGTAGATAGTGAAATTAATAAAGATCTAGAACGCTCTATGAGAGAGCTGCAAGCAACTCATGCAGAAACGGTGCAAGAGCTGGAAAAGACAAGAAACATGCTAATTATGCAACACAAAATTAATAAAGATTATCAG___ATGGAGGTTGAGGCAGTGACCCGTAAGATGGAAAATTTGCAGCAAGATTATGAACTCAAAGTGGAACAGTATGTTCATCTTCTTGATATCAGGGCTGCACGTATCCATAAACTAGAAG___CCCAATTAAAGGATATTGCCTATGGCACCAAGCAGTACAAATTTAAACCAGAAATCATGCCAGATGACTCTGTTGATGAATTTGATGAAACCATCCACTTAGAACGAGGCGAAAATCTATTTGAAATCCATATCAACAAAGTAACCTTTTCTTCTGAAGTTTTACAGGCATCTGGAGATAAAGAGCCTGTCACTTTCTGTACCTATGCTTTCTATGATTTTGAACTACAGACAACTCCCGTAGTGCGAGGCCTTCATCCCGAATATAACTTCACTTCTCAATATCTTGTTCATGTTAATGACTTATTTTTGCAATATATTCAGAAGAATACTATCACCCTTGAGGTCCACCAGGCTTATAGCACAGAATATGAAACAATTGCAGCATGTCAATTAAAATTTCACGAAATTCTTGAAAAAAGCGGCCGAATATTTTGTACAGCAAGTTTGATTG___GAACAAAAGGAGACATCCCAAATTTTGGCACAGTGGAATACTGGTTCCGATTAAGAGTTCCCATGGATCAAGCAATTCGACTTTATCGAGAAAGGGCAAAGGCTTTGGGGTATATAACATCAAATTTTAAGGGGCCAGAGCATATGCAGTCG___TTAAGTCAGCAAGCACCCAAAACTGCTCAACTCAGTTCTACAGATTCCACAGATGGCAACTTAAATGAACTTCACATTACAATAAGATGTTGCAACCACCTGCAGTCCCGAGCAAGCCACCTGCAGCCACACCCATATGTTGTGTACAAGTTTTTTGATTTTGCAGACCATGATACAGCTATCATTCCCAGTAGCAATGATCCACAGTTTGATGATCATATGTATTTCCCAGTGCCAATGAATATGGACTTGGATCGATACCTTAAGTCAGAGTCTCTGAGTTTTTATGTTTTTGATGATAGTGATACCCAGGAGAATATTTACATAGGAAAAGTCAATGTGCCTCTGATTTCGTTGGCACATGACAGGTGTATCTCAG___GAATATTTGAGTTAACAGACCATCAAAAGCATCCTGCTGGCACCATCCATGTTATATTGAAATGGAAATTTGCTTACCTTCCACCAAGTGGATCAATAACAACTGAAGACTTAGGAAATTTCATTCGCAGCGAAGAGCCAGAAGTTGTTCAAAGACTTCCTCCAGCATCCTCTGTTAGCACACTAGTTTTA___GCACCAAGACCTAAACCAAGACAACGTTTAACACCTGTAGATAAGAAGGTATCTTTCGTGGATATCATGCCACATCAGAGTGAT___GTTTCACAAGAAGGCAGTGTAGATGAGGTAAAAGAGAATACTGAGAAAATGCAGCAAGGAAAAGATGATGTGTCTTTACTATCTGAAGGTCAGCTTGCAGAACAAAGCTTGGCAT)CTTCTGAAGATGAAACAGAAATAACAGAGGACTTGGAACCAGAAG___TTGAAGAGGACATGTCAGCTTCTGACAGTGATGACTGTATTATTCCAGGTCCTATCTCCAAGAATATCAAACAG|TTTGCAGTGATGGTGCAGAAGAACCAGGTCGGAAGTCTGCTTCTCTAGGATGGACTGATACTGGCGGAGAGAATAGTAAGAAGTCTGCAACTCCTCTGTGTGAAACTCCAGTTCTTGTTGAAGGACCAGCAATTTTTTCTTCAGTTGCTGGAGTTGTCTCAGATGACACTGTTTACTGGACCCAAATTCCACCTCTGACTCCTCGAATGCTAATGCCTGTGCTTGCTTCTTGTCCTACCATAGAGACAGGATATACAAAAAAGGCTTTAGATCATCACTAAGGACGTATTCATTCCAGG MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSLLEEARGEIRNLENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLRISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKENYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKLVQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENLQQDYELKVEQYVHLLDIRAARIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHLERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTYAFYDFELQTTPVVRGLHPEYNFTSQYLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKFHEILEKSGRIFCTASLIGTKGDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLSQQAPKTAQLSSTDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDDHMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELTDHQKHPAGTIHVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAPRPKPRQRLTPVDKKVSFVDIMPHQSDVSQEGSVDEVKENTEKMQQGKDDVSLLSEGQLAEQSLASSEDETEITEDLEPEVEEDMSASDSDDCIIPGPISKNIKQ|favmvqknqvgslll* 09BR005 ENSG00000171475.14 ENSG00000197079.8 +/+ -/+ chr17:40265146 chr17:41476767 CDS/splice-site 3'UTR deletion/5'-5' 4 3 0 251 42 high out-of-frame . WH2_motif(100%)| . . ENSG00000171475.14 ENSG00000197079.8 ENST00000323571.9 . downstream upstream duplicates(1) ^(ATTTTGTTCGCGGACGCTGGGGACGGTGGGAGCAGATCCATTTCCGGGTTGGCAAAAGGGGCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGACGGCGAGAAAGAGCTTGCCGGGGGGCGAGCAGGACAGGACGAAGCCGGAGTGTAGGCGGCAGAGGATTCGCTCCCAGAGCAGCTGCGGCCAG___GTATATGAATGACCTAAAGGTACAAATAAAGACGGAGAGAGAACAGTGCCAACTGGGAGCAGGGCAAGAATGCCAATTCCTCCTCCCCCGCCACCCCCACCTGGTCCTCCTCCACCTCCCACATTTCATCAG___GCAAACACAGAGCAGCCCAAGCTGAGTAGAGATGAGCAGCGGGGTCGAGGCGCCCTCTTACAGGACATTTGCAAAGGGACCAAGCTGAAGAAGGTGACCAACATTAATGATCGGAGTGCTCCCATCCTCGAGA___AGCCGAAAGGAAGCAGTGGTGGCTATGGCTCTGGAGGAGCTGCCCTGCAGCCCAAGGGAGGTCTCTTCCAAGGAGGAGTGCTGAAGCTTCGACCTGTGGGAGCCAAGGATGGTTCAG___AGAACCTAGCTGGTAAGCCAGCCCTGCAAATCCCCAGTTCTCGAGCTGCTGCCCCAAGGCCTCCAGTATCTGCCGCCAGCGGGCGTCCTCAGGATGATACAGACAGCAGCCGGGCCTCACTCCCAGAACTGCCCCGGATGCAGAGACCCTCTTTACCGGACCTCTCTCGGCCTAATACCACCAGCAGTACGGGCATGAAGCACAGCTCCTCTGCCCCTCCCCCACCACCCCCAGGGCGGCGTGCCAACGCACCCCCCACACCTCTGCCTATGCACAGCAGCAAAGCCCCCGCCTACAACAGAGAGAAACCCTTGCCACCGACGCCTGGACAAAGGCTTCACCCTGGTCGAGAGGGACCTCCTGCTCCACCCCCAGTCAAACCACCTCCTTCCCCTGTGAATATCAGAACAGGACCAAGTGGCC)AGTCTCTGGCTCCTCCTCCTCCGCCTTACCGCCAGCCTCCTGGGGTCCCCAATGGACCCTCTAGCCCCACTAATGAGTCAGCCCCTGAGCTGCCACAGAGACACAATTCTTTGCATAGGAAGACACCAGGGCCTGTCAGAGGCCTAGCACCTCCTCCACCCACCTCGGCCTCCCCATCTTTACTGAGTAATAGGCCACCTCCCCCAGCCCGAGACCCTCCCAGTCGGGGAGCAG|AATCCACCGGAACAGCACCTAGAAGGAAAACCTGACCCAGGAGGCAGCCTGAGAACAGAGACCCTGGCACCCATTGAAATGATGAGGAGTTGAGACCTTTGGGGGCAGCCGGCCTTTGTGACAGGCTCTGAGAAACTTTAGGGCATGTATTTGCAGAAAGCCTTTTCAGCCAGACCCTGGGCCTGGGCTCTGCGCGAAGAGAGGGGATTGGGCTACAAGGGTTAAGTTTGGGTAGAGGCC MPIPPPPPPPPGPPPPPTFHQANTEQPKLSRDEQRGRGALLQDICKGTKLKKVTNINDRSAPILEKPKGSSGGYGSGGAALQPKGGLFQGGVLKLRPVGAKDGSENLAGKPALQIPSSRAAAPRPPVSAASGRPQDDTDSSRASLPELPRMQRPSLPDLSRPNTTSSTGMKHSSSAPPPPPPGRRANAPPTPLPMHSSKAPAYNREKPLPPTPGQRLHPGREGPPAPPPVKPPPSPVNIRTGPSGQSLAPPPPPYRQPPGVPNGPSSPTNESAPELPQRHNSLHRKTPGPVRGLAPPPPTSASPSLLSNRPPPPARDPPSRGA|estgtaprrkt* 09BR005 ENSG00000007202.15 ENSG00000214546.4 -/- +/- chr17:28636965 chr17:39622205 CDS/splice-site exon duplication/5'-5' 0 6 1 618 32 high out-of-frame . Mitochondrial_protein_from_FMP27(100%)| . . ENSG00000007202.15 ENSG00000214546.4 ENST00000528896.7 . upstream downstream . ^(CTGCGCGCGCAGCTGGTCGGCCCGCGGCGGTGCTGCGCGGATCCGGCGTCGGGGCCCGGCATGGCGGGGGCCGGGGCCAAGCCGGGCCGGACCCGGACCTAAATGCCTCTGTTCTTCTCCGCGCTGTTGGTCTTGCTGCTAGTTGCGCTTAGCGCCCTCTTTCTAGGCCG___GTGGCTTGTGGTCCGGTTGGCCACCAAGTGGTGTCAGCGGAAGCTGCAGGCGGAGCTAAAGATTGGCTCCTTCCGCTTTTTTTGGATCCAGAATGTCAGTCTTAAGTTTCAGCAACACCAGCAAACAGTG___GAAATTGATAACCTGTGGATTTCCAGCAAACTCCTTAGCCATGATCTTCC___ACACTATGTGGCATTGTGCTTTGGAGAAGTGCGTATCAGAACGGACCTACAGAAAGTTTCTGACCTGTCTGCCCCATTCTCCCAGAGCGCTGGGGTGGATCAAAAGGAACTGTCCTTCAGCCCATCCTTATTGAAGATCTTCTGCCAA___CTATTCTCCATTCATGTAGATGCTATAAACATCATGGTTCTCAAGGTGGATACCTCTGAGTCCTTATGGCATATTCAGATCAGTAGAAGCAGATTTCTTTTGGATAGTGATGGGAAAAG___GCTAATCTGTGAGGTGAGCTTATGTAAGATCAACAGCAAAGTTCTAAAGAGTGGTCAGCTG___GAGGACACCTGCCTAGTGGAGCTTTCACTGGCCCTGGACCTGTGTCTAAAGGTGGGCATTAGCAGTCGGCATCTCACTGCTATCACTGTGGATGTGTGGACACTCCATGCTGAACTGCATGAGGGCCTCTTCCAGAGCCAACTGCTGTGCCAGGGCCCAAGCCTAGCATCTAAGCCTGTTCCCTGTTCAG___AGGTGACAGAAAACTTAGTTGAGCCAACTCTGCCTGGCCTATTCCTTCTCCAGCAGCTGCCAGACCAGGTCAAGGTTAAGATGGAGAACACAAGCGTGGTATTGTCCATGAATAGTCAAAAGAG___GCACCTGACTTGGACTCTGAAGCTGCTGCAGTTCCTGTACCACCGTGATGAGGATCAGCTGCCCCTTCGAAGCTTCACAGCAAACTCTGATATGGCACAGATGAGCACTGAACTGCTGCTGGAAG___ATGGGTTGTTGTTGTCCCAGAGTCGCCAACGCATTGTCTGCCTCAACTCCCTCAAGGCTAGTGTGCAG___GTGACCACCATTGACCTCTCAGCCTCCCTAGTTCTGAACACTTGCATCATTCACTACCGGCACCAGGAATTCTCTCACTGGCTGCACCTGCTAGCACTGGAAACCCAAGGGTCTAGTTCACCTGTTCTAAAGCAAAGGAAAAAAAG___AACCTTCCCCCAAATCCTGGCTCCCATCATCTTTAGCACCTCCATCTCCAATGTCAACATTTCCATTCAACTTGGAGATACACCACCTTTTGCCTTGGGATTCAATTCTATCTCTCTGG___ATTACCAGCACCTCAGGCCACAAAGCATCCATCAGCGGGGCGTCCTAACTGTGGACCACCTCTGCTGGCGTGTGGGCAGTGACTCCCACATTCAGCGGGCGCCACACCCACCCAATATGCATGTTTGGGGTGAGGCACTTGTTCTGGACTCCTTCACACTACAG___GGTAGCTATAACCAGCCTCTGGGCCTGTCCAGCACCCAGTCAGATACCCTTTTTCTTGATTGTACCATTCGAGGACTTCAGGTGGAAGCATCAGATACCTGTGCCCAATGTCTGTCTCGTATCTTATCCCTGATGGGTCCACAATCTGGGAAGTCAGCTGTCTCTAGGCACTCTTCATTTGGGGAATCTGTGTCATTACTGTGGAAGGTGGACTTGAAGGTCGAAGACATGAACTTGTTTACCCTTTCTGCCTTGGTTG___GTGCTTCAGAGGTACGACTGGACACCCTAACTATCCT)GGGCAGTGCAGAGACGTCCACTGTGGGGATTCAAGGACTTGTGTTAGCGCTGGTGAAATCAGTCACGGAGAAGATGCAACCCTGTTGCAAGGCCCCTGACATCCCTACCCCAGTGCTCAGCCTTTCCATGCTCTCCATCACCTATCACAGCAGCATCCGCTCTCTGGAG|GTTTCTCTCTCTCAGTCCCGCCGGTTTGGACAGTTCTCGGAAGCAGTAGAGATCGATGTGCGGAGGCTGCCCTCTGGTGGCACAAACGAGTACAGCAGTATATGTGCCCTCTGGCGCCCCCAGGTGGGAGCTGGGAAGTTGAGAAGAGAGCAAGCTGCAGCCCACAGCAGGGGTAGCCTCAGTCCCCGGCACCTGGAGACCCCCTGCTCTGGCCACTGCCTGGTGCCCCCCGAGGTGCCAGCTGAGGCTGCCCCCGAAGAATGCCAGCTGCCGGAGCCCCCCGCCTCC MPLFFSALLVLLLVALSALFLGRWLVVRLATKWCQRKLQAELKIGSFRFFWIQNVSLKFQQHQQTVEIDNLWISSKLLSHDLPHYVALCFGEVRIRTDLQKVSDLSAPFSQSAGVDQKELSFSPSLLKIFCQLFSIHVDAINIMVLKVDTSESLWHIQISRSRFLLDSDGKRLICEVSLCKINSKVLKSGQLEDTCLVELSLALDLCLKVGISSRHLTAITVDVWTLHAELHEGLFQSQLLCQGPSLASKPVPCSEVTENLVEPTLPGLFLLQQLPDQVKVKMENTSVVLSMNSQKRHLTWTLKLLQFLYHRDEDQLPLRSFTANSDMAQMSTELLLEDGLLLSQSRQRIVCLNSLKASVQVTTIDLSASLVLNTCIIHYRHQEFSHWLHLLALETQGSSSPVLKQRKKRTFPQILAPIIFSTSISNVNISIQLGDTPPFALGFNSISLDYQHLRPQSIHQRGVLTVDHLCWRVGSDSHIQRAPHPPNMHVWGEALVLDSFTLQGSYNQPLGLSSTQSDTLFLDCTIRGLQVEASDTCAQCLSRILSLMGPQSGKSAVSRHSSFGESVSLLWKVDLKVEDMNLFTLSALVGASEVRLDTLTILGSAETSTVGIQGLVLALVKSVTEKMQPCCKAPDIPTPVLSLSMLSITYHSSIRSLE|vslsqsrrfgqfseaveidvrrlpsggtneyssicalwrpqvgagklrreqaaahsrgslsprhletpcsghclvppevpaeaapeecqlpeppa 09BR005 ENSG00000063245.15 ENSG00000152910.19 +/+ +/+ chr19:55693037 chr16:76316413 CDS/splice-site CDS/splice-site translocation 1 5 0 111 9 high in-frame . ENTH_domain(100%)|F5/8_type_C_domain(100%),Laminin_G_domain(100%) . . ENSG00000063245.15 ENSG00000152910.19 ENST00000085079.11 ENST00000611870.5 downstream upstream . ^(CGGCGGCTCCCCTCCCCCGCCCGGCTCTCCGCGCCCCTTCTGGGCGGCGGGGCGGCGGAGCCGTCGGCGTGCGGCCCTCCTTGCGTTCGTGCGTGCGCCCGTGGCCCGGCGCACGTCCCGCGACACCGAGGCCGAGCGGGGCAGGGGGCTGACCGCCATGACCCCCCAGAGCCCGGCGTGAGGGGGCCGAG___ATGCGGTGACCTGCCAGCACCTGCCGCAGCCTTCGTCCGGGAGTCGCCCCATCTCTCCACGCATCGGGGCCCTGTGCCCCTTGCTGCTGCAGCCGGGCACCATGTCGACCTCGTCCTTGAGGCGCCAGATGAAGAACATCGTCCACAACTACTCAGAGGCGGAGATCAAGGTTCGAGAGGCCACGAGCAATGACCCCTGGGGCCCATCCAGCTCCCTCATGTCAGAGATTGCCGACCTCACCTACAACGTTGTCGCCTTCTCGGAGATCATGAGCATGATCTGGAAGCGGCTCAATGACCATGGCAAGAACTGGCGTCACGTTTACAAG___GCCATGACGCTGATGGAGTACCTCATCAAGACCGGCTCGGAGCGCGTGTCGCAGCAGTGCAAGGAGAACATGTACGCCGTGCAGACGCTGAAGGACTTCCAGTACGTGGACCGCGACGGCAAGGACCAGGGCGTGAACGTGCGTGAGAAAGCTAAGCAGCTGGTGGCCCTGCTGCGCGACGAGGACCGGCTGCGGGAAGAGCGGGCGCACGCGCTCAAGACCAAGGAAAAGCTGGCACAGACCGCCACGG___CCTCATCAGCAGCTGTGGGCTCAGGCCCCCCTCCCGAGGCGGAGCAGGCGTGGCCGCAGAGCAGCGGGGAGGAGGAGCTGCAGCTCCAGCTGGCCCTGGCCATGAGCAAGGAGGAGGCCGACCAG___GAGGAGCGGATCCGTCGCGGGGATGACCTGCGGCTGCAGATGGCAATCGAGGAGAGCAAGAGGGAGACTGGGGGCAAGGAGGAG___TCGTCCCTCATGGACCTTGCTGACGTCTTCACGGCCCCAGCTCCTGCCCCGACCACAGACCCCTGGGGGGGCCCAGCACCCATGGCTGCTGCCGTCCCCACGGCTGCCCCCACCTCGGACCCCTGGGGCGGCCCCCCTGTCCCTCCAGCTGCTGATCCCTGGGGAGGTCCAGCCCCCACGCCGGCCTCTGGGGACCCCTGGAGGCCTGCTGCCCCTGCAGGACCCTCAGTTGACCCTTGGGGTGGGACCCCAGCCCCTGCAGCTGGGGAGGGGCCCACGCCTGATCCATGGGGAAGTTCCGATG___GTGGGGTCCCGGTCAGTGGGCCCTCAGCCTCCGATCC)CTGGACACCGGCCCCGGCCTTCTCAGATCCCTGGGGAGGGTCACCTGCCAAGCCCAGCACCAATGGCACAACAG___CCGGGGGATTCGACACGGAGCCCGACGAGTTCTCTGACTTTGACCGACTCCGCACGGCACTGCCGACCTCCGGGAGCAGCGCAG|ATGACTGTGATGATCCTCTTGTGTCTGCCTTGCCTCAGGCATCCTTCAGCAGTTCTTCCGAGCTCTCCAGCAGTCATGGTCCTGGATTTGCAAGGCTGAATAGAAGAGATG___GAGCTGGTGGC(TGGTCTCCACTTGTGTCTAACAAATACCAGTGGTTGCAGATTGACCTTGGAGAGAGAATGGAGGTCACCGCTGTGGCCACTCAAGGGGGATATGGTAGCTCCAACTGGGTGACCAGCTACCTCCTGATGTTCAGTGATAGTGGCTGGAACTGGAAACAATATCGCCAAGAGGACAGCATCTGG___GGTTTTTCAGGAAATGCAAATGCAGACAGTGTTGTGTACTATAGACTCCAGCCTTCTATCAAAGCCAGATTTCTGCGCTTCATCCCTTTGGAATGGAACCCCAAGGGCAGAATTGGAATGCGAATCGAAGTGTTCGGATGTGCATACA___GATCAGAAGTGGTTGATCTTGATGGAAAAAGTTCCCTTCTCTACAGATTTGATCAAAAATCCCTGAGCCCAATAAAAGACATTATTTCTTTGAAATTCAAAACCATGCAGAGTGATGGGATTCTACTCCACAGGGAAGGGCCAAATGGAGATCACATCACACTGCAATTAAGAAGAGCAAGACTCTTTTTACTTATTAATTCAG___GTGAAGCTAAACTGCCTTCCACTTCCACCCTGGTCAATCTCACCCTGGGCAGCCTGCTAGATGATCAGCATTGGCATTCAGTGCTCATCCAGCGTTTGGGCAAACAAGTCAACTTCACAGTGGACGAACACAGGCATCATTTCCATGCACGGGGAGAATTCAATCTCATGAATCTTGATTATGAG___ATCAGCTTTGGAGGGATTCCAGCACCTGGAAAATCAGTGTCATTCCCACATAGAAATTTTCATGGATGTTTAGAAAATCTCTATTATAATGGAGTGGATATCATTGATTTGGCCAAGCAGCAAAAACCACAGATCATTGCTATG___GGAAATGTGTCATTTTCTTGTTCACAACCACAATCTATGCCCGTGACTTTTCTGAGCTCCAGGAGTTATTTAGCACTGCCAGACTTCTCTGGAGAGGAGGAGGTTTCTGCCACTTTTCAATTTCGAACTTGGAATAAGGCAGGGCTTCTGCTGTTCAGTGAACTTCAGCTGATTTCAGGGGGTATCCTCCTCTTTCTGAGTGATGGAAAACTTAAGTCGAATCTCTACCAGCCAGGAAAATTACCCAGTGACATCACAGCAG___GTGTCGAATTAAATGATGGGCAGTGGCATTCTGTCTCTTTATCTGCTAAAAAGAATCACTTGAGTGTGGCGGTGGACGGCCAGATGGCTTCTGCTGCTCCTCTGCTGGGGCCTGAGCAGATTTATTCGGGTGGCACCTATTATTTTGGAG___GTTGTCCTGACAAAAGCTTTGGATCCAAATGTAAAAGTCCACTTGGTGGATTTCAGGGATGTATGAGGCTCATTTCTATCAGCGGCAAAGTGGTAGATCTGATTTCAGTTCAGCAGGGGTCCCTTGGGAACTTCAGTGACCTTCAGATAGACTCATGTGGCATCTCAGACAG___GTGTTTGCCCAACTATTGTGAACACGGTGGGGAGTGTTCCCAGTCCTGGAGCACCTTTCATTGTAACTGTACCAACACTGGTTACAGAGGAGCTACTTGCCATAACT___CTATCTATGAGCAGTCATGTGAAGCCTATAAGCACAGAGGAAATACTTCAGGGTTTTACTATATAGATTCAGATGGAAGTGGTCCCCTGGAACCATTTCTTCTATATTGCAATATGACCG___AAACTGCATGGACCATCATACAGCACAACGGCTCTGACTTAACAAGAGTCAGAAATACTAATCCAGAGAACCCATATGCTGGGTTTTTCGAGTATGTGGCCAGCATGGAGCAACTTCAGGCCACTATTAACCGTGCAGAGCACTGTGAACAGGAGTTTACTTATTACTGCAAGAAGTCACGGCTGGTCAATAAGCAAG___ATGGAACCCCTCTGAGTTGGTGGGTAGGAAGAACCAATGAAACGCAAACCTACTGGGGAGGTTCTTCGCCTGATCTTCAAAAATGTACTTGTGGATTAGAGGGAAACTGCATTGATTCTCAGTATTACTGCAATTGTGATGCTGACCGGAATGAATG___GACCAATGACACTGGATTGCTTGCTTATAAAGAACATCTTCCAGTAACTAAGATCGTGATTACAGACACAGGCCGACTGCATTCAGAAGCAGCTTATAAACTGGGGCCTCTGCTCTGCCAGGGAGACA___GATCATTTTGGAATTCAGCTTCCTTTGATACCGAGGCTTCATATCTTCATTTTCCTACCTTCCACGGAGAACTTAGCGCGGATGTATCTTTCTTTTTTAAGACAACAGCTTCATCTGGGGTATTTTTAGAGAACTTGGGGATTGCTGATTTTATACGGATAGAGCTTCGCT___CTCCGACAGTAGTGACTTTTTCATTTGATGTGGGGAATGGGCCTTTTGAAATCTCAGTGCAGTCACCCACCCACTTCAACGACAACCAGTGGCACCATGTGAGGGTTGAAAGGAACATGAAGGAGGCCTCCCTTCAAGTGGATCAGCTGACACCAAAGACACAGCCCGCCCCCGCTGATGGGCATGTCCTGTTACAGCTCAACAGTCAGCTCTTCGTGG___GTGGAACGGCCACCAGACAGAGAGGCTTTCTGGGCTGCATTCGGTCTCTGCAGTTGAATGGGATGACCCTGGATTTGGAAGAAAGAGCCCAGGTGACTCCAGAAGTGCAGCCAGGTTGTAGGGGACATTGCAGCAGCTATGGGAAGTTATGCCGCAATGGAGGGAAATGCAGAGAAAGACCCATTGGGTTCTTTTGTGACTGCACTTTCTCTGCATACACAGGGCCATTCTGCTCAAATG___AGATTTCTGCATATTTTGGATCTGGCTCATCCGTGATATACAATTTTCAAGAAAATTATCTTTTAAGTAAAAACTCCAGCTCCCACGCTGCTTCATTTCATGGTGATATGAAGCTGAGCAGAGAAATGATCAAATTTAGTTTCCGAACAACACGAACACCAAGCTTGCTGCTTTTTGTGAGCTCCTTTTACAAAGAATACCTTTCTGTGATCATTGCCAAAAATG___GAAGTTTGCAGATCAGGTACAAGTTAAATAAATATCAAGAGCCTGATGTTGTTAACTTTGATTTTAAAAACATGGCTGATGGACAACTTCACCACATAATGATTAACAGAGAAGAAGGAGTGGTCTTTATAGAG___ATTGACGATAATAGAAGGAGACAAGTTCACCTGTCATCAGGCACAGAATTCAGTGCAGTCAAATCTCTGGTATTGGGCAGGATTTTAG___AACACAGTGATGTGGACCAGGATACTGCACTGGCAGGTGCGCAGGGCTTCACAGGCTGCCTCTCTGCAGTGCAGCTCAGCCACGTGGCCCCTCTGAAGGCAGCTCTGCACCCCAGCCACCCAGACCCTGTCACTGTTACAGGACACGTGACTGAGTCCAGCTGTATGGCCCAGCCTGGCACTGATGCCACATCAAGGGAAAGGACACACTCGTTTGCAG___ATCATTCTGGAACAATAGATGACAGAGAGCCCCTTGCTAATGCAATCAAAAGTGACTCTGCAGTAATTGGAG___GTCTGATAGCTGTTGTGATTTTTATCTTGCTTTGCATCACTGCCATAGCTGTTCGCATTTATCAGCAGAAAAGGTTATATAAAAGAAGTGAGGCAAAAAGGTCAGAGAATGTAGACAGTGCTGAGGCTGTTCTGAAAAGTGAGCTTAATATACAAAATGCAGTCAATGAAAATCAGAAAGAGTACTTCTTCTGATTGGCAGCTATGATTTAACATAAAATTATGATAGTTTGTTTTAATAGCCAGGGGTTCTCAATGGAAAAACGAATGCTCTTACACTGAATGTACAGGCAGTGGGCTTGCAGCACTGCCATCTTGCCATGTACAGGCTTGGGGTGGCTCCAGGAAGCCTCGTCCAGTGATATATTTCTCATAGCATTCATTCTATGGAACAAGAAATTAGATATTGCTGTTAATTTTCAACTGTTCTGGTATGATCTAAAACAAGTTTAACCTGCTTAATGGCTACAGTTTTTACATGTGAAAACTGTAGCCTTGGTCTCTTAACCATGTAATACATAAGTTTTGTTAGAGGTAAAAATTAAATTTGGACTATAATGTCCTTGCTTTATTTGAGAACATTTGCTGTGTTTGCTTTTGTCTCCTCGTGGTGTTATTCATAGACCTGGAAATGCTTCTCAGATCCTGTGTGGCCGGTGTTTGCATCTTCAGTGGCCACAAGCATAATAAAGCCCCTTTGCCTTTCTCTGTATTATATTCAATACAATACATCAATAGTCTTGAAAAATGTTTTGCTGTCTTTGCTTTGTTTGTATTGCTCATTATTCTATTTGTCTCTTCTTAATAATGTTGAATACATTTGGTTTTGAGTCTCAGACTTCAACTCTGAACATACAAGTTGTATTTAACAAGACTCAGAAAGTGCAGTGGTTGTTAGTATGTAATGTCTTTCCTTTTAAAAAAAGTTTTCCAATTAATTTGCTACCATTGTTTGATGGTGACAGTACTTAAGACCCTGAGTAATGCCAGTTTCCCAAAGAATGTAAAATGTTTTCAACTAAACTGTTGATATATTAAAAAAAATTCTTAACACAGCAAAAAATTATTATTTAATTTACAACTGTAATACCTCAAATGAAATATACTTATGAGACTATTTTGCCCAAACCTAGATCAGTCCTTTATTGGTTTACATTTCTGTTTTTCTGAAGTTTATCACAAACTTCGCCTTGATCTTCAATGATTATACTTCACGAATCATCTTATATATTACCAAAAAAGAGACAAATTGAAGTATAGAGCCCCATTTCCCATTCTGAAACATATACCCCTTTAGGTGTACATTTTGCTGTGCATAGACTTCCAGTACATACTTTTTGAAATATGAGCTGCAACCATCAGTGATCTACACAATCAATAATTAAACAATGCACACTCTAAGGGGAGATAGCATATTAAATGATCTACTGTGAATTTGTCATTCCAGACACTTCTCGTCTGAAACGATGGGGTGAATTTCTCAAAAATTACCAAGAATCAATCCAACTTGCTGAATGGTACATTCTGATTAGGGTGTATTATACACTAGGAGATCAAAGAATGATCAATAACCTTATGGAACTGTTACAATAATTAATCTTGAGACCATGCATACAAGGAACTATCTTTGAATTCTGCAAGCCAATCATACAATAAAGGCACTCTATTATACATACTCACACCTTCAAGTGCCTCCCAAGTAACTATTGGATTTCTTAGTTTGTCTACACCAGAAGAATCGGGAAATATGTAAATTTAGCATTACTATCATCTTATTTTCTATATTTTCCTTGTTAACTCTTCTTATAAAACCTGCCTCTCTTTTCTCATAGCACTATATCCATATTGATGTTTCTGCAAATGCCTGACTAAATCTTAAGAACCTGAATTAACATAGTAGTTTACGAAGGACTAAGGACCTATGTTGGTAGATGGTATACTCTTTGTTTGATTGGAAGATCTATGGTGACAAGGGAAGGATTTAACATAGAAATGGCATTATTTATTCGATGCAAAGCTGAGTGCAAACATCATTATATCTCTGAATCTTTTGCAGATGTTCATGTTATTTAGTAGCGGTATTAACCTCATTGGTAGCTGAACTCTAGGGAGGTTTATTGGTGAAGCCTCACAGTCCTCTGTGGTCTGCACTGCTAGAGACTCAACATTATGGCATGGAAATGCATTGACACATCCTATGCCATGACTTTAATTTCCTGATTTGTAATCTCTTATTTTATCATTAATAAAATGCATTTTTGAACTAAAA)$ MSTSSLRRQMKNIVHNYSEAEIKVREATSNDPWGPSSSLMSEIADLTYNVVAFSEIMSMIWKRLNDHGKNWRHVYKAMTLMEYLIKTGSERVSQQCKENMYAVQTLKDFQYVDRDGKDQGVNVREKAKQLVALLRDEDRLREERAHALKTKEKLAQTATASSAAVGSGPPPEAEQAWPQSSGEEELQLQLALAMSKEEADQEERIRRGDDLRLQMAIEESKRETGGKEESSLMDLADVFTAPAPAPTTDPWGGPAPMAAAVPTAAPTSDPWGGPPVPPAADPWGGPAPTPASGDPWRPAAPAGPSVDPWGGTPAPAAGEGPTPDPWGSSDGGVPVSGPSASDPWTPAPAFSDPWGGSPAKPSTNGTTAGGFDTEPDEFSDFDRLRTALPTSGSSA|dDCDDPLVSALPQASFSSSSELSSSHGPGFARLNRRDGAGGWSPLVSNKYQWLQIDLGERMEVTAVATQGGYGSSNWVTSYLLMFSDSGWNWKQYRQEDSIWGFSGNANADSVVYYRLQPSIKARFLRFIPLEWNPKGRIGMRIEVFGCAYRSEVVDLDGKSSLLYRFDQKSLSPIKDIISLKFKTMQSDGILLHREGPNGDHITLQLRRARLFLLINSGEAKLPSTSTLVNLTLGSLLDDQHWHSVLIQRLGKQVNFTVDEHRHHFHARGEFNLMNLDYEISFGGIPAPGKSVSFPHRNFHGCLENLYYNGVDIIDLAKQQKPQIIAMGNVSFSCSQPQSMPVTFLSSRSYLALPDFSGEEEVSATFQFRTWNKAGLLLFSELQLISGGILLFLSDGKLKSNLYQPGKLPSDITAGVELNDGQWHSVSLSAKKNHLSVAVDGQMASAAPLLGPEQIYSGGTYYFGGCPDKSFGSKCKSPLGGFQGCMRLISISGKVVDLISVQQGSLGNFSDLQIDSCGISDRCLPNYCEHGGECSQSWSTFHCNCTNTGYRGATCHNSIYEQSCEAYKHRGNTSGFYYIDSDGSGPLEPFLLYCNMTETAWTIIQHNGSDLTRVRNTNPENPYAGFFEYVASMEQLQATINRAEHCEQEFTYYCKKSRLVNKQDGTPLSWWVGRTNETQTYWGGSSPDLQKCTCGLEGNCIDSQYYCNCDADRNEWTNDTGLLAYKEHLPVTKIVITDTGRLHSEAAYKLGPLLCQGDRSFWNSASFDTEASYLHFPTFHGELSADVSFFFKTTASSGVFLENLGIADFIRIELRSPTVVTFSFDVGNGPFEISVQSPTHFNDNQWHHVRVERNMKEASLQVDQLTPKTQPAPADGHVLLQLNSQLFVGGTATRQRGFLGCIRSLQLNGMTLDLEERAQVTPEVQPGCRGHCSSYGKLCRNGGKCRERPIGFFCDCTFSAYTGPFCSNEISAYFGSGSSVIYNFQENYLLSKNSSSHAASFHGDMKLSREMIKFSFRTTRTPSLLLFVSSFYKEYLSVIIAKNGSLQIRYKLNKYQEPDVVNFDFKNMADGQLHHIMINREEGVVFIEIDDNRRRQVHLSSGTEFSAVKSLVLGRILEHSDVDQDTALAGAQGFTGCLSAVQLSHVAPLKAALHPSHPDPVTVTGHVTESSCMAQPGTDATSRERTHSFADHSGTIDDREPLANAIKSDSAVIGGLIAVVIFILLCITAIAVRIYQQKRLYKRSEAKRSENVDSAEAVLKSELNIQNAVNENQKEYFF* 09BR005 ENSG00000063245.15 ENSG00000287694.1 +/+ +/+ chr19:55693037 chr16:76316413 CDS/splice-site CDS/splice-site translocation 1 5 0 111 9 high in-frame . ENTH_domain(100%)| . . ENSG00000063245.15 ENSG00000287694.1 ENST00000085079.11 ENST00000655556.1 downstream upstream . ^(CGGCGGCTCCCCTCCCCCGCCCGGCTCTCCGCGCCCCTTCTGGGCGGCGGGGCGGCGGAGCCGTCGGCGTGCGGCCCTCCTTGCGTTCGTGCGTGCGCCCGTGGCCCGGCGCACGTCCCGCGACACCGAGGCCGAGCGGGGCAGGGGGCTGACCGCCATGACCCCCCAGAGCCCGGCGTGAGGGGGCCGAG___ATGCGGTGACCTGCCAGCACCTGCCGCAGCCTTCGTCCGGGAGTCGCCCCATCTCTCCACGCATCGGGGCCCTGTGCCCCTTGCTGCTGCAGCCGGGCACCATGTCGACCTCGTCCTTGAGGCGCCAGATGAAGAACATCGTCCACAACTACTCAGAGGCGGAGATCAAGGTTCGAGAGGCCACGAGCAATGACCCCTGGGGCCCATCCAGCTCCCTCATGTCAGAGATTGCCGACCTCACCTACAACGTTGTCGCCTTCTCGGAGATCATGAGCATGATCTGGAAGCGGCTCAATGACCATGGCAAGAACTGGCGTCACGTTTACAAG___GCCATGACGCTGATGGAGTACCTCATCAAGACCGGCTCGGAGCGCGTGTCGCAGCAGTGCAAGGAGAACATGTACGCCGTGCAGACGCTGAAGGACTTCCAGTACGTGGACCGCGACGGCAAGGACCAGGGCGTGAACGTGCGTGAGAAAGCTAAGCAGCTGGTGGCCCTGCTGCGCGACGAGGACCGGCTGCGGGAAGAGCGGGCGCACGCGCTCAAGACCAAGGAAAAGCTGGCACAGACCGCCACGG___CCTCATCAGCAGCTGTGGGCTCAGGCCCCCCTCCCGAGGCGGAGCAGGCGTGGCCGCAGAGCAGCGGGGAGGAGGAGCTGCAGCTCCAGCTGGCCCTGGCCATGAGCAAGGAGGAGGCCGACCAG___GAGGAGCGGATCCGTCGCGGGGATGACCTGCGGCTGCAGATGGCAATCGAGGAGAGCAAGAGGGAGACTGGGGGCAAGGAGGAG___TCGTCCCTCATGGACCTTGCTGACGTCTTCACGGCCCCAGCTCCTGCCCCGACCACAGACCCCTGGGGGGGCCCAGCACCCATGGCTGCTGCCGTCCCCACGGCTGCCCCCACCTCGGACCCCTGGGGCGGCCCCCCTGTCCCTCCAGCTGCTGATCCCTGGGGAGGTCCAGCCCCCACGCCGGCCTCTGGGGACCCCTGGAGGCCTGCTGCCCCTGCAGGACCCTCAGTTGACCCTTGGGGTGGGACCCCAGCCCCTGCAGCTGGGGAGGGGCCCACGCCTGATCCATGGGGAAGTTCCGATG___GTGGGGTCCCGGTCAGTGGGCCCTCAGCCTCCGATCC)CTGGACACCGGCCCCGGCCTTCTCAGATCCCTGGGGAGGGTCACCTGCCAAGCCCAGCACCAATGGCACAACAG___CCGGGGGATTCGACACGGAGCCCGACGAGTTCTCTGACTTTGACCGACTCCGCACGGCACTGCCGACCTCCGGGAGCAGCGCAG|ATGACTGTGATGATCCTCTTGTGTCTGCCTTGCCTCAGGCATCCTTCAGCAGTTCTTCCGAGCTCTCCAGCAGTCATGGTCCTGGATTTGCAAGGCTGAATAGAAGAGATG___GAGCTGGTGGC(TGGTCTCCACTTGTGTCTAACAAATACCAGTGGTTGCAGATTGACCTTGGAGAGAGAATGGAGGTCACCGCTGTGGCCACTCAAGGGGGATATGGTAGCTCCAACTGGGTGACCAGCTACCTCCTGATGTTCAGTGATAGTGGCTGGAACTGGAAACAATATCGCCAAGAGGACAGCATCTGG___GGTTTTTCAGGAAATGCAAATGCAGACAGTGTTGTGTACTATAGACTCCAGCCTTCTATCAAAGCCAGATTTCTGCGCTTCATCCCTTTGGAATGGAACCCCAAGGGCAGAATTGGAATGCGAATCGAAGTGTTCGGATGTGCATACA___GATCAGAAGTGGTTGATCTTGATGGAAAAAGTTCCCTTCTCTACAGATTTGATCAAAAATCCCTGAGCCCAATAAAAGACATTATTTCTTTGAAATTCAAAACCATGCAGAGTGATGGGATTCTACTCCACAGGGAAGGGCCAAATGGAGATCACATCACACTGCAATTAAGAAGAGCAAGACTCTTTTTACTTATTAATTCAG___GTGAAGCTAAACTGCCTTCCACTTCCACCCTGGTCAATCTCACCCTGGGCAGCCTGCTAGATGATCAGCATTGGCATTCAGTGCTCATCCAGCGTTTGGGCAAACAAGTCAACTTCACAGTGGACGAACACAGGCATCATTTCCATGCACGGGGAGAATTCAATCTCATGAATCTTGATTATGAG___ATCAGCTTTGGAGGGATTCCAGCACCTGGAAAATCAGTGTCATTCCCACATAGAAATTTTCATGGATGTTTAGAAAATCTCTATTATAATGGAGTGGATATCATTGATTTGGCCAAGCAGCAAAAACCACAGATCATTGCTATG___GGAAATGTGTCATTTTCTTGTTCACAACCACAATCTATGCCCGTGACTTTTCTGAGCTCCAGGAGTTATTTAGCACTGCCAGACTTCTCTGGAGAGGAGGAGGTTTCTGCCACTTTTCAATTTCGAACTTGGAATAAGGCAGGGCTTCTGCTGTTCAGTGAACTTCAGCTGATTTCAGGGGGTATCCTCCTCTTTCTGAGTGATGGAAAACTTAAGTCGAATCTCTACCAGCCAGGAAAATTACCCAGTGACATCACAGCAG___GTGTCGAATTAAATGATGGGCAGTGGCATTCTGTCTCTTTATCTGCTAAAAAGAATCACTTGAGTGTGGCGGTGGACGGCCAGATGGCTTCTGCTGCTCCTCTGCTGGGGCCTGAGCAGATTTATTCGGGTGGCACCTATTATTTTGGAG___GTTGTCCTGACAAAAGCTTTGGATCCAAATGTAAAAGTCCACTTGGTGGATTTCAGGGATGTATGAGGCTCATTTCTATCAGCGGCAAAGTGGTAGATCTGATTTCAGTTCAGCAGGGGTCCCTTGGGAACTTCAGTGACCTTCAGATAGACTCATGTGGCATCTCAGACAG___GTGTTTGCCCAACTATTGTGAACACGGTGGGGAGTGTTCCCAGTCCTGGAGCACCTTTCATTGTAACTGTACCAACACTGGTTACAGAGGAGCTACTTGCCATAACT___CTATCTATGAGCAGTCATGTGAAGCCTATAAGCACAGAGGAAATACTTCAGGGTTTTACTATATAGATTCAGATGGAAGTGGTCCCCTGGAACCATTTCTTCTATATTGCAATATGACCG___AAACTGCATGGACCATCATACAGCACAACGGCTCTGACTTAACAAGAGTCAGAAATACTAATCCAGAGAACCCATATGCTGGGTTTTTCGAGTATGTGGCCAGCATGGAGCAACTTCAGGCCACTATTAACCGTGCAGAGCACTGTGAACAGGAGTTTACTTATTACTGCAAGAAGTCACGGCTGGTCAATAAGCAAG___ATGGAACCCCTCTGAGTTGGTGGGTAGGAAGAACCAATGAAACGCAAACCTACTGGGGAGGTTCTTCGCCTGATCTTCAAAAATGTACTTGTGGATTAGAGGGAAACTGCATTGATTCTCAGTATTACTGCAATTGTGATGCTGACCGGAATGAATG___GACCAATGACACTGGATTGCTTGCTTATAAAGAACATCTTCCAGTAACTAAGATCGTGATTACAGACACAGGCCGACTGCATTCAGAAGCAGCTTATAAACTGGGGCCTCTGCTCTGCCAGGGAGACA___GATCATTTTGGAATTCAGCTTCCTTTGATACCGAGGCTTCATATCTTCATTTTCCTACCTTCCACGGAGAACTTAGCGCGGATGTATCTTTCTTTTTTAAGACAACAGCTTCATCTGGGGTATTTTTAGAGAACTTGGGGATTGCTGATTTTATACGGATAGAGCTTCGCT___CTCCGACAGTAGTGACTTTTTCATTTGATGTGGGGAATGGGCCTTTTGAAATCTCAGTGCAGTCACCCACCCACTTCAACGACAACCAGTGGCACCATGTGAGGGTTGAAAGGAACATGAAGGAGGCCTCCCTTCAAGTGGATCAGCTGACACCAAAGACACAGCCCGCCCCCGCTGATGGGCATGTCCTGTTACAGCTCAACAGTCAGCTCTTCGTGG___GTGGAACGGCCACCAGACAGAGAGGCTTTCTGGGCTGCATTCGGTCTCTGCAGTTGAATGGGATGACCCTGGATTTGGAAGAAAGAGCCCAGGTGACTCCAGAAGTGCAGCCAGGTTGTAGGGGACATTGCAGCAGCTATGGGAAGTTATGCCGCAATGGAGGGAAATGCAGAGAAAGACCCATTGGGTTCTTTTGTGACTGCACTTTCTCTGCATACACAGGGCCATTCTGCTCAAATG___AGATTTCTGCATATTTTGGATCTGGCTCATCCGTGATATACAATTTTCAAGAAAATTATCTTTTAAGTAAAAACTCCAGCTCCCACGCTGCTTCATTTCATGGTGATATGAAGCTGAGCAGAGAAATGATCAAATTTAGTTTCCGAACAACACGAACACCAAGCTTGCTGCTTTTTGTGAGCTCCTTTTACAAAGAATACCTTTCTGTGATCATTGCCAAAAATG___GAAGTTTGCAGATCAGGTACAAGTTAAATAAATATCAAGAGCCTGATGTTGTTAACTTTGATTTTAAAAACATGGCTGATGGACAACTTCACCACATAATGATTAACAGAGAAGAAGGAGTGGTCTTTATAGAG___ATTGACGATAATAGAAGGAGACAAGTTCACCTGTCATCAGGCACAGAATTCAGTGCAGTCAAATCTCTGGTATTGGGCAGGATTTTAG___AACACAGTGATGTGGACCAGGATACTGCACTGGCAGGTGCGCAGGGCTTCACAGGCTGCCTCTCTGCAGTGCAGCTCAGCCACGTGGCCCCTCTGAAGGCAGCTCTGCACCCCAGCCACCCAGACCCTGTCACTGTTACAGGACACGTGACTGAGTCCAGCTGTATGGCCCAGCCTGGCACTGATGCCACATCAAGGGAAAGGACACACTCGTTTGCAG___ATCATTCTGGAACAATAGATGACAGAGAGCCCCTTGCTAATGCAATCAAAAGTGACTCTGCAGTAATTGGAG___GTTAAAACAAAGTCACAAGTCTGACCCACACTCAAAGGGAGAAGATTATGCAAGAGCAAAAGCACGAGATGGAAACCATGGGGCCATCTTATAGTCTGTCTGCCGGAGAAAGATGAACACAAATCCT___TTCTTGGATTCTACTGATAAGAGCTAGAAGCATCGACATCCTGGGATGAGCATACCTAGTGCCGGGACCTTGGTTTCTATAAACCATGACCCATTAAAGGAATCGGAGATTCTTGGAGAAATGGCTGATTTCCATGTTGGGGTAGGAAAAGTGGAAGCTAAGCCTGGAACGTCTTGTGCCCAAAACTACAGTAGTACTTAAAATATTATGAGAGCATGTCAGATGTCAGCTTGAACGGGCTCCCTCTGGCAAAATCTGTGACAATCTGAGCATCAGAATAATAAGAGTAACAGAATATTTATGGAATAAAATACGCAAATATGAACCTGTACTGATATAAATACATTAATGGTGGAAAAGAGATAGCTGTTATGTGTGGCAGAGGACCAACTAGTAAGTGCAGAACTAATGATTCCTTATAAAATCACCTTCCTGCAACCATCATATAATGATTGATTCAGGCAAGGATCATTAATAGCTGTTATCATAGGGGGTAAAATTTTAATGAGGAACAAAATATTTACATAACTTCAAAGTGTCTCCTTCAAATACTTATTAATCACACACAAAAAAATAGTGACTTCATAGGGAAGCAACCTGGTATACAATAACTAATGAATAGATCAACTTCACATCATTAGTAAAGAAACAAACTGACATTTTGTGTCTCCTAAAATAATGCTGTCCAGTGAGCACAGCATCACGTATACAGTTTTCCTAGTAAAAATGCATAACCTGCATCTAGCCATGAGGAAACACAAGGCAAATACAAGTTGAAGGAAATTTTACAAAATAATTGGCTTGTGCTCTTCAAAAGTCTTGAGGTCATGGAAAACAAAAAACGGTCTGAAAATTGTTTTCTGTTAAAGGAGAATAAAGATACATGACAATTAAATGTGATTCTGGTTTGGACTGTGACTAAAAAAGTTATTATGATAGACATTGTTAAGACAATGGGTAAAGTTTGAGTATAGACTATAGAATAGCTAATACTATTGTATTGTTGTTATGTATTCTAATTTTGATAATTATACTGCAATTACATAAGAGAAAATACAAATTCTTAGAAAATAGTTACTGAATTTATTGTGGAAAAAGGGATGTGATGTCTATGACTTATATTCAAATCATTCAGAAGTACATAGTTGTATATTATGTAAAGAAAAAAATATATATACAC)$ MSTSSLRRQMKNIVHNYSEAEIKVREATSNDPWGPSSSLMSEIADLTYNVVAFSEIMSMIWKRLNDHGKNWRHVYKAMTLMEYLIKTGSERVSQQCKENMYAVQTLKDFQYVDRDGKDQGVNVREKAKQLVALLRDEDRLREERAHALKTKEKLAQTATASSAAVGSGPPPEAEQAWPQSSGEEELQLQLALAMSKEEADQEERIRRGDDLRLQMAIEESKRETGGKEESSLMDLADVFTAPAPAPTTDPWGGPAPMAAAVPTAAPTSDPWGGPPVPPAADPWGGPAPTPASGDPWRPAAPAGPSVDPWGGTPAPAAGEGPTPDPWGSSDGGVPVSGPSASDPWTPAPAFSDPWGGSPAKPSTNGTTAGGFDTEPDEFSDFDRLRTALPTSGSSA|dDCDDPLVSALPQASFSSSSELSSSHGPGFARLNRRDGAGGWSPLVSNKYQWLQIDLGERMEVTAVATQGGYGSSNWVTSYLLMFSDSGWNWKQYRQEDSIWGFSGNANADSVVYYRLQPSIKARFLRFIPLEWNPKGRIGMRIEVFGCAYRSEVVDLDGKSSLLYRFDQKSLSPIKDIISLKFKTMQSDGILLHREGPNGDHITLQLRRARLFLLINSGEAKLPSTSTLVNLTLGSLLDDQHWHSVLIQRLGKQVNFTVDEHRHHFHARGEFNLMNLDYEISFGGIPAPGKSVSFPHRNFHGCLENLYYNGVDIIDLAKQQKPQIIAMGNVSFSCSQPQSMPVTFLSSRSYLALPDFSGEEEVSATFQFRTWNKAGLLLFSELQLISGGILLFLSDGKLKSNLYQPGKLPSDITAGVELNDGQWHSVSLSAKKNHLSVAVDGQMASAAPLLGPEQIYSGGTYYFGGCPDKSFGSKCKSPLGGFQGCMRLISISGKVVDLISVQQGSLGNFSDLQIDSCGISDRCLPNYCEHGGECSQSWSTFHCNCTNTGYRGATCHNSIYEQSCEAYKHRGNTSGFYYIDSDGSGPLEPFLLYCNMTETAWTIIQHNGSDLTRVRNTNPENPYAGFFEYVASMEQLQATINRAEHCEQEFTYYCKKSRLVNKQDGTPLSWWVGRTNETQTYWGGSSPDLQKCTCGLEGNCIDSQYYCNCDADRNEWTNDTGLLAYKEHLPVTKIVITDTGRLHSEAAYKLGPLLCQGDRSFWNSASFDTEASYLHFPTFHGELSADVSFFFKTTASSGVFLENLGIADFIRIELRSPTVVTFSFDVGNGPFEISVQSPTHFNDNQWHHVRVERNMKEASLQVDQLTPKTQPAPADGHVLLQLNSQLFVGGTATRQRGFLGCIRSLQLNGMTLDLEERAQVTPEVQPGCRGHCSSYGKLCRNGGKCRERPIGFFCDCTFSAYTGPFCSNEISAYFGSGSSVIYNFQENYLLSKNSSSHAASFHGDMKLSREMIKFSFRTTRTPSLLLFVSSFYKEYLSVIIAKNGSLQIRYKLNKYQEPDVVNFDFKNMADGQLHHIMINREEGVVFIEIDDNRRRQVHLSSGTEFSAVKSLVLGRILEHSDVDQDTALAGAQGFTGCLSAVQLSHVAPLKAALHPSHPDPVTVTGHVTESSCMAQPGTDATSRERTHSFADHSGTIDDREPLANAIKSDSAVIGG* 09BR005 ENSG00000131759.18 ENSG00000131748.16 +/+ +/- chr17:40309286 chr17:39637497 5'UTR/splice-site intron inversion/3'-3' 1 5 0 101 38 high . . . . . ENSG00000131759.18 ENSG00000131748.16 ENST00000254066.10 . downstream downstream duplicates(1) ^(GCAGCAGCCTAACCCAGAAGCAGGGGG)GAATCCTGAATCGAGCTGAGAGGGCTTCCCCGGTTCTCCTGGGAACCCCATCGGCCCCCTGCCAGCACACACCTGAGCAG|TTAAGACGGAGGCTTTGGAAGGAGATCCCGAACGTCCTCCCCGGGCTCCCCAGGATAGGCGGGGTCGCCAAGAGTCATTGCTGGAGACCCCAACCCGCGCGGGGCGGCGCGAGGCCAGACAGAGGAAGGGGGCGGAACCTGAGACGCAGCGGGTGTGGGAAGGGTCGGACGGAACCCAGCACGGACAGCGGGCGGCGAAGCG . 09BR005 ENSG00000214331.8 ENSG00000125107.18 -/- -/- chr16:74368065 chr16:58576582 exon/splice-site CDS/splice-site deletion 2 3 0 12 56 high . . |CCR4-NOT_transcription_complex_subunit_1_CAF1-binding_domain(100%),CCR4-NOT_transcription_complex_subunit_1_HEAT_repeat(100%),CCR4-NOT_transcription_complex_subunit_1_TTP_binding_domain(100%),CCR4-Not_complex_component__Not1(100%),Domain_of_unknown_function_(DUF3819)(100%) . . ENSG00000214331.8 ENSG00000125107.18 ENST00000566802.5 ENST00000317147.10 upstream downstream . ^(CGCTTTCCGGCCCG)CGGCGACCGCCGGCAACTGTTGTGGCTGCCGCATTGCTCCCGCCGGGCTGTAGCTGAGCGCGGAGCCCGTGGGGGCCGGTGAG|GGACAGTCTCCCTCAATTCGCCAACTTATCATGCATGCAATGGCAGAATGGTACATGAGAGGGGAGCAGTATGATCAGGCCAAATTGTCTCGAATACTTGATGTGGCCCAGGACTTGAAG___GCCTTGTCAATGCTGCTAAATGGTACTCCATTTGCCTTTGTTATTGACCTTGCTGCACTTGCTTCACGTCGTGAATACCTCAAACTTGATAAGTGGCTCACAGATAAAATTCGAGAGCATGGG___GAGCCTTTTATCCAGGCG(TGTATGACTTTTTTAAAGAGACGGTGTCCTTCTATTTTGGGCGGACTTGCCCCAGAAAAAGACCAGCCCAAAAGTGCTCAACTTCCTCCAGAAACTTTGGCGACAATGTTGGCCTGTCTGCAAGCTTGTGCAGG___GAGTGTTTCTCAGGAGCTATCAGAAACTATCCTCACCATGGTAGCCAATTGCAGTAATGTTATGAATAAGGCCAGACAACCACCACCTGGAGTTATGCCAAAAGGACGTCCTCCTAGTGCTAGCAGCTTAGATGCCATTTCTCCTGTTCAG___ATTGACCCTCTTGCTGGAATGACATCTCTTAGTATAGGTGGTTCAGCTGCCCCTCACACCCAGAGTATGCAGGGTTTTCCTCCAAATTTGGGTTCTGCATTCAGTACCCCTCAGTCACCAGCAAAAGCATTTCCACCCCTTTCAACCCCCAATCAGACCACTGCATTCAGTGGTATTGGAGGACTTTCATCACAGCTTCCAG___TAGGTGGTCTTGGCACAGGCAGCCTGACTGGTATAGGAACTGGTGCTCTTGGACTCCCTGCAGTGAATAACGACCCTTTTGTACAGAGGAAACTGGGCACCTCTGGACTGAATCAGCCTACATTCCAGCAGAGTAAGATGAAACCTT___CGGACTTGTCTCAGGTGTGGCCAGAGGCAAACCAGCACTTTAGTAAAGAGATAGATGATGAAGCAAACAGCTATTTCCAGCGAATATATAATCATCCACCACATCCAACCATGTCTGTTGATGAG___GTATTAGAAATGCTGCAGAGATTTAAAGACTCTACTATAAAGAGGGAACGAGAAGTATTTAACTGTATGCTAAGGAACTTGTTTGAAGAATATCGTTTTTTTCCCCAGTATCCTGATAAAGAGTTACATATAACAGCCTGCCTATTTGGTGGTATAATTGAGAAAGGACTGGTCACTTACATGGCACTAGGTCTGGCTCTACGATATGTTCTTGAAGCCTTACGCAAGCCTTTTGGATCCAAAATGTATTATTTCGGGATTGCTGCACTAGATAGATTTAAAAACAG___ATTGAAGGACTATCCCCAGTATTGTCAGCATTTGGCTTCTATCAGTCACTTTATGCAATTTCCACATCATTTACAGGAG___TATATTGAGTATGGACAGCAGTCTAGAGATCCTCCTGTGAAAATGCAAGGCTCTATCACAACCCCTGGAAGTATTGCACTGGCTCAGGCCCAGGCTCAGGCCCAGGTTCCAGCAAAAGCTCCTCTTGCTGGTCAAGTTAGCACTATGGTAACCACCTCAACAACTACCACTGTTGCTAAAACGGTTACGGTCACCAGGCCAACTGGAGTCAGCTTTAAGAAAGATGTGCCA___CCTTCTATTAATACTACAAATATAGATACGTTGCTTGTGGCCACAGATCAAACTGAGAGAATTGTGGAGCCCCCAGAAAATATCCAGGAGAAAATTGCTTTTATTTTCAATAATCTCTCACAGTCAAATATGACACAAAAG___GTTGAAGAGCTAAAGGAAACGGTGAAAGAAGAATTTATGCCTTGGGTTTCACAGTATCTGGTTATGAAGAGAGTCAGTATTGAGCCAAACTTTCATAGCCTGTATTCAAACTTCCTTGACACGCTGAAGAATCCTGAATTTAACAAGATGGTTCTGAATGAGACCTACAGAAACATTAAA___GTGCTCCTGACCTCTGATAAAGCTGCAGCCAATTTCTCAGATCGTTCTTTGCTGAAGAACTTGGGACATTGGCTAGGAATGATCACATTAGCTAAAAACAAACCCATCTTACACACT___GACTTGGATGTGAAATCATTGCTGCTAGAGGCTTATGTTAAAGGACAACAAGAATTGCTCTATGTAGTGCCCTTTGTTGCCAAAGTCTTAGAATCTAGCATTCGTAGTGTG___GTTTTTAGGCCACCAAACCCTTGGACAATGGCAATTATGAATGTATTAGCTGAGCTACATCAGGAGCATGACTTAAAG___TTAAACTTGAAGTTTGAAATCGAGGTTCTCTGCAAGAACCTTGCATTAGACATCAATGAGCTAAAACCTGGAAACCTCCTAAAGGATAAAGATCGCCTGAAGAATTTAGATGAGCAACTCTCTGCTCCAAAGAAAGATGTCAAGCAGCCAGAAGAACTCCCTCCCATCACAACCACAA___CAACTTCTACTACACCAGCTACCAACACCACTTGTACAGCCACGGTTCCACCACAGCCACAGTACAGCTACCACGACATCAATGTCTATTCCCTTGCGGGCTTGGCACCACACATTACTCTGAATCCAACA___ATTCCCTTGTTTCAGGCCCATCCACAGTTGAAGCAGTGTGTGCGTCAGGCAATTGAACGGGCTGTCCAGGAGCTGGTCCATCCTGTGGTGGATCGATCAATTAAGATTGCCATGACTACTTGTGAGCAAATAGTCAGGAAGGATTTTGCCCTGGATTCGGAGGAATCTCGAATGCGAATAGCAGCTCATCACATGATGCGTAACTTGACAGCTGGAATGGCTATGATTACATGCAGGGAACCTTTGCTCATGAGCATATCTACCAACTTAAAAAACAGTTTTGCCTCAGCCCTTCGT___ACTGCTTCCCCACAACAAAGAGAAATGATGGATCAGGCAGCTGCTCAATTAGCTCAGGACAATTGTGAGTTGGCTTGCTGTTTTATTCAGAAGACTGCAGTAGAAAAAGCAGGCCCTGAGATGGACAAGAGATTAGCAACT___GAATTTGAGCTGAGAAAACATGCTAGGCAAGAAGGACGCAGATACTGTGATCCTGTTGTTTTAACATATCAAGCTGAACGGATGCCAGAGCAAATCAGGCTGAAA___GTTGGTGGTGTGGACCCAAAGCAGTTGGCTGTTTACGAAGAGTTTGCACGCAATGTTCCTGGCTTCTTACCTACAAATGACTTAAGTCAGCCCACGGGATTTTTAGCCCAGCCCATGAAG___CAAGCTTGGGCAACAGATGATGTAGCTCAGATTTATGATAAGTGTATTACAGAACTGGAGCAACATCTACATGCCATCCCACCAACTTTGGCCATGAACCCTCAAGCTCAGGCTCTTCGAAGTCTCTTGGAGGTTGTAGTTTTATCTCGAAACTCTCGGGATGCCATAGCTGCTCTTGGATTGCTCCAAAAG___GCTGTAGAGGGCTTACTAGATGCCACAAGTGGTGCTGATGCTGACCTTCTGCTGCGCTACAGGGAATGCCACCTCTTGGTCCTAAAAGCTCTGCAGGATGGCCGGGCATATGGGTCTCCATGGTGCAACAAACAGATCACAAG___GTGCCTAATTGAATGTCGAGATGAATATAAATATAATGTGGAGGCTGTGGAGCTGCTAATTCGCAATCATTTGGTTAATATGCAGCAGTATGATCTTCACCTAGCGCAG___TCAATGGAGAATGGCTTAAACTACATGGCTGTGGCATTTGCTATGCAGTTAGTAAAAATCCTGCTGGTGGATGAAAGGAGTGTTGCTCATGTTACTGAGGCAGATCTGTTCCACACCATTGAAACCCTCATGAGGATTAATGCTCATTCCAGAGGCAATGCTCCAGAAGG___ATTGCCCCAGCTGATGGAAGTAGTGCGATCCAACTATGAAGCAATGATTGATCGTGCTCATGGAGGCCCAAACTTTATGATGCATTCTGGGATCTCTCAAGCCTCAGAGTATGATGACCCTCCAGGCCTGAGGGAGAAGGCAGAGTATCTTCTGAGGGAATGGGTGAATCTCTACCATTCAGCAGCAGCTGGCCGCGACAGTACCAAAGCTTTCTCTGCATTTGTTGGACAG___ATGCACCAGCAAGGAATACTGAAGACCGATGATCTCATAACAAGGTTCTTTCGTCTGTGTACTGAAATGTGTGTTGAAATCAGTTACCGTGCTCAGGCTGAGCAGCAGCACAATCCTGCTGCCAATCCCACCATGATCCGAGCCAAGTGCTATCACAACCTGGATGCCTTTGTTCGACTCATTGCACTGCTCGTGAAACACTCAGGGGAGGCCACCAACACTGTCACAAAGATTAATCTGCTGAACAAG___GTCCTTGGTATAGTAGTGGGAGTTCTCCTTCAGGATCATGATGTTCGTCAGAGTGAATTTCAGCAACTTCCCTACCATCGAATTTTTATCATGCTTCTCTTGGAACTCAATGCACCTGAGCATGTGTTGGAAACCATTAATTTCCAGACACTTACAGCTTTCTG___CAATACATTCCACATCTTGAGGCCTACCAAAGCTCCTGGCTTTGTATATGCCTGGCTTGAACTGATTTCCCATCGGATATTTATTGCAAGAATGCTGGCACATACGCCACAGCAGAAG___GGGTGGCCTATGTATGCACAGCTACTGATTGATTTATTCAAATATTTAGCGCCTTTCCTTAGAAATGTGGAACTCACCAAACCTATGCAAATCCTCTACAAG___GGCACTTTAAGAGTGCTGCTGGTTCTTTTGCATGATTTCCCAGAGTTCCTTTGTGATTACCATTATGGGTTCTGTGATGTGATCCCACCTAATTGTATCCAGTTAAGAAATTTGATCCTGAGTGCCTTTCCAAGAAACATGAGGCTCCCCGACCCATTCACTCCTAATCTAAAG___GTGGACATGTTGAGTGAAATTAACATTGCTCCCCGGATTCTCACCAATTTCACTGGAGTAATGCCACCTCAGTTCAAAAAGGATTTGGATTCCTATCTTAAAACTCGATCACCAGTCACTTTCCTGTCTGATCTGCGCAGCAACCTACAG___GTATCCAATGAACCTGGGAATCGCTACAACCTCCAGCTCATCAATGCACTGGTGCTCTATGTCGGGACTCAGGCCATTGCGCACATCCACAACAAGGGCAGCACACCTTCAATGAGCACCATCACTCACTCAGCACACATGGATATCTTCCAGAATTTGGCTGTGGACTTGGACACTGAGG___GTCGCTATCTCTTTTTGAATGCAATTGCAAATCAGCTCCGGTACCCAAATAGCCACACTCACTACTTCAGTTGCACCATGCTGTACCTTTTTGCAGAGGCCAATACGGAAGCCATCCAAGAACAGATCACAAG___AGTTCTCTTGGAACGGTTGATTGTAAATAGGCCACATCCTTGGGGTCTTCTTATTACCTTCATTGAGCTGATTAAAAACCCAGCGTTTAAGTTCTGGAACCATGAATTTGTACACTGTGCCCCAGAAATCGAAAA___GTTATTCCAGTCGGTCGCACAGTGCTGCATGGGACAGAAGCAGGCCCAGCAAGTAATGGAAGGGACAGGTGCCAGTTAGACGAAACTGCATCTCTGTTGTACGTGTCAGTCTAGAGGTCTCACTGCACCGAGTTCATAAACTGACTGAAGAATCCTTTCAGCTCTTCCTGACTTTCCCAGCCCTTTGGTTTGTGGGTATCTGCCCCAACTACTGTTGGGATCAGCCTCCTGTCTTATGTGGGCACGTTCCAAAGTTTAAATGCATTTTTTTGACTCTTGGCCAAAATTTAGAAGATGCTGTGAATATCATTTTGAACTTGTGTAAATACATGAAAGAGAAAACCTTTGTCTGGAACTTCTTGGCTTTGTGCAAGCTGTGTCCAAGGCAAGTACATAAACTGGTACCTTGTAATGAAGAGGCAGCTGATGCCATGCACTTGTCTGAGGGCATAGCTCCATGTCTTCTGACATTCCTGGTGTCCCAAAGAATAGCAAAAAGCCAGTTTGAATATTATGTAACTTATTTTTTTAATGTGGACAGGGGACCTTGAAAATCACTAAGTTATTAAAAATGTGGATGTGCTAGAATTGGATATGTCCAGGAACATGGGAAGGGCTCACTATTGGAATCCCATGAGTTTCCATTTTGTCTCTACCCAAACGTATTCCAAAGCTGACTGCATTTGTACCATCTTATTTCTTTTGGGGATTATACACCTCAGCCGCCTGAGATGGGGGTCAGCTCTTTATATAAAGGGAAACCAGACCAGGCCTAAAGCCCACCCCTACCCTCACCCCCCCAATCCTCTCCTGAAACTTAAAAACAGTGGGAATATAGGAAAGGGAACCAAATCTCATTAATTAATTGTTCTCCCCCATTACCCCACTGAATGAATGGCCATACAGGCTAAGCTGAATAATGACAAAGTTGAAAGGACCAATACAGCCCCTTTTATAAGGATTTTGAATGTTTTGCAAATGTATTGGTCCCTGTGTTGTATTTTGTAGCCTTTTCCTGGGCTTCAGCTCCCCTACTTCTTGTATGTGTATGCATACTGTAGCTAACCATTAAAGTCATGACACACA)$ . 09BR005 ENSG00000244045.13 ENSG00000186393.5 +/+ -/+ chr17:28360847 chr17:40771685 CDS/splice-site CDS deletion/5'-5' 1 2 1 153 5 high out-of-frame . . . . ENSG00000244045.13 ENSG00000186393.5 ENST00000292114.8 . downstream upstream . ^(ACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGG___ATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGG___AACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAAC)GTCACTTGTCAG___GATACAAGACATGGTGGGACTCTCAGCGACCTGGGAAAGCAAG___TGAGATCATTGAAGGCTCTGGTCATCACCATCTTCAATTTCATTGTCACGGTGGTTGCTGCCTTCGTCTGCACTTACCTTGGAAGCCAATATATCTTCACAGAAATGGCCTCG|ATCTTCTATGACTGAGAAGTATCTGCTATAGTCATGATCGTGTTCCCGGGAAGAGCCAGGCTCACATTTCTCGTACCAGCCCTTGATCTTCTGCTCCAGGTCTGCGTTGGCCTCCTCTAGAGCATGCACATGGTCCAGGTAGGATGCCAGGCGGTCGTTGAGATTCTGCATGGTCACCTTTTCATTCCCAGAGAGGAGGCTGTGCTCATTGCCAAG MASSLLAGERLVRALGPGGELEPERLPRKLRAELEAALGKKHKGGDSSSGPQRLVSFRLIRDLHQHLRERDSKLYLHELLEGSEIYLPEVVKPPRNPELVARLEKIKIQLANEEYKRITRNVTCQDTRHGGTLSDLGKQVRSLKALVITIFNFIVTVVAAFVCTYLGSQYIFTEMAS|ifyd* 09BR005 ENSG00000229321.2 ENSG00000144283.21 +/+ +/- chr2:206881891 chr2:158651666 exon/splice-site intron inversion/3'-3' 2 2 0 12 3 high . . . . . ENSG00000229321.2 ENSG00000144283.21 ENST00000658889.1 . downstream downstream . ^(ATCCGTGTCATGGCATGTGGCAGTATTTCTTTCGCCCGGGCACTTTGGGAGGCTAAGATGGAGAGGCTGAGAGTTGAAGACCAGCCTGGGTAACATTGCAAGACCCCCATCTCTACAAGAAAATTAAAAAGGCTTGAGCCCAGGAGATTGAGCCTGCAGTGAGCCATGATCATGCCCCTGCACTCCAGCCTGGGGAAAGAATGATACCCTGTCTCAAAGAAAAAAAAAAGAATTTCCTTCCTTTTAAAAAGATGGAATTATATTCTATTGTATGTATATACCACATTTTGTTTATCTGCAGATGGGCCCTTGGATTGTTTCTACCTTTTGTATCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTCTAGAAACTTGTTATTCTCCTGAGTGTTAAACTGTTTTAAATGTTTGGTTTTTCATTTCTAGAACATTTTCCTATCCTAAAATTTACCTATCTGGCTATCTATCATCTATCACTTTTCCTAAGGATCTTTAGTTGTTTACTTTTTAATGAAGTATAATATACGTTATGATAGTGTATTTTATGTATCCTCATATCCTTTCACTGTGGATTTAATTTTTAGAAATAACAAAAAGTCACATAGGGCAAATTCATTAAGCTGAGTGGGTGATTAAGTTAACAATAGTAATGACCATGTATTAAGTGCCTACTATGTGCCAGGCACTGTGCTAGCATTTCACACCCATTATATCATTCAGTCTTCACACCCCTGTTTGGTGGTTATTAATGATTACTAATATTCATTTTATAGATGAATAAACTGATACTCAAGGCCTTAATTGCCTTTCCTAGGGGTGCACAACTAGAAAAAAGGCAGAGCCAGATCTGCACCCAAGTCCTTCTGACCCCAGAGCTCATGCTTGTATCATCGCACCAGTGTTACTCAAGCTTTCCTGGTGATTACAGTCACATGTACTTGACAAAACCACAAACTGTTGGGCCTGTCCCAGTGATACTGAATCGAAATTTACTGAGGAGGGACCTGGGAGATTACACTGCTTGAACAGCATGGTACCGGGGAACCAGAGATCAACTTCAACCCTTCTGTTAGCTCTTAGTGGGCTGGTCAGCTGGATGTAGAAGCTAAATTGACAGCAGGCAGATTAACAAGAGAAAAATGTATAAATTTTACTAGTTTTACATGTACTTGGGGATCTTCACAAGAAAGTGAAGTCTGAACAAGAGGCCAAAGTAAGATATTCTTATACTTTTTAGACAAAGAATGATAAATTTGAGAAGAAACAACAGGAGAAAGAAAATCTGGCTAGGACAGTAAAATTTTCTAGGGGAGTCACAGGAGATATATGAGGGGGTGTAAAGCAAGTGGAAGATAAAGGTTATTTTGTTCGTAAGTTTGTTTATTCGGGTTCCTTGCAGCCTCCAAGTCTCTGGTGATAAGGGCTATTTTCTCATCCTGGTATGGATAAATCTCAGGGCCTTCGAAGAGTATCCGTCCCAGAGGATTCTTTATCCCTTGCTCCATACAGGAAGATATAGATCAGCTCTTCCTTTCTGAAACTAGAATTTCTCCATTGTTTTCCATTAGAAATAATCAACATACAAATTTTGGGATGGCACATCCTTCAGTCCTCCAATGGTATCTACCATATTTTTTTCAAACATATAACATACTTTAAGGTAATGAGATTAGGTCGTGCAGCTCACAAATAGCTCTGAAGGCAGTTCCTATAGCAGAGACTCAATTGTTATGAGCATTAGCTATTGGCATGACAGAATAGGCTTCAAAGTGACTTCTTTGAAGGACAAGATTTATTTGAATGTTCTGCTTTAGAATCATTAAAATGAGCACCCTCACTGCCATGTTGGCTCTACGCACAGTAAGATTAGAGAGACAGCGTTTTACAGTGAAAAGAGTAAGTCAACCCTGGTTTGGGATCTGGATAAATTGCTTAACTTCTCAGAGCCTTAGTTTCTTCATCTGTAAAATGGATTACTACCCAATTTGAAGGACTATTGTATACATTAGAAATAACTATATATGCCTTGTCATGTAGTAGATGCTTATAGCAGTTCTTATAATAATAAAGCGAAGTCCCCGTGGTGTATTGTAAATGTGAACCACACTCCTCAGCAGTGATCCTTGTGTGCTAAGCTAGTGGACCAGAGTTTCCAGCTGAAGTAGATCTGGAACCGAGTCTTGAAAAATGTGTGTAGAGAAGCTTCTGTACTTTTCTTATGTGGATGGCAGTGGCGAGGGGGCGGTGGCGGGTGCAGCTGCAATACTTAAAAAGGAATTCTATTGTGGCAATAAATGAATATGGCAAGAAATGAGCCTGGCAAGAAATGAATGACAATGGCCCCTAGGTGGTGCTGAATCATCATGGAAGTGGAGGCTGGACACTTGGCATTTGCGGAGGTGACTTCCTTCTGGTTTGAATTTCAAATAAGAGCAGGACAGCTCCTTGGGATGTCTGGGAAAAAAGACCAGGCAGAAAAGAGTCTTTTCACTAGGAGCGGGTGCAAAATACTCTTGCCTGTGAGGCCTCTTCAGGTCTTCGGTTTGCTTTAGTTGGAAACAGGAAGCAGGGTCAGACCAACTTGTATTCATTTGCTGAGAGCTGTTGGAGCTGTGACTGATTCTGACAGATCAAATACCATTTATAACACTCCTGTGGGGGACACTTTAACCGGGGATGTTAGTGCTAGCCCCTCCAGAGACTAAGTATGTTTGCGGGATGTGAGGACCCCTGGAATATACAAATATGCATGCTAATGAATTTTAACAAAAATAACCCATTATTGTTTTCTGTGCAACACTGTGCATTTCTCAGCTACACCTGTCCTTTCCAACCTCAATTGCTGGGCAACCTATTTTTCTTTCGGCATCAGAAGCGATAGCATCTGGGAAGTGAATCTGATGAATTCTGCCTGGCAACCAACATCTTTCCAACTGCCAGATCCTGGG___GTCTGGCTGATTTCACTTAACATAATGTCCTTCAGGTTCATCCACATTGTGCCAAATG___)TTAATCCTCTGTGGCCATGTCGGGTCTGTTGGTGGAGATGCCAAACACGGAAGACAGTGAAGTGGTGGCTCAGCGTTCTCCAAAGGAATGAGCAAGCAGATGAGGCAAAGCACACTCTGAAG|GAGGATGGGAGACCACATTTGAGTTGCAGTGTCAAGGACAGAGGCCAGAAAGAAGCAGG?TTGGaGTGCAGAGCTCTTCAGGCCAACTATATATAGCCTGGGAAAGAAGCAGAAGAGGTGACGGCACATGCTGGAGCTGGCTGG . 09BR005 ENSG00000244045.13 ENSG00000264488.1 +/+ +/+ chr17:28360847 chr17:40809149 CDS/splice-site exon/splice-site deletion 1 3 0 153 10 high out-of-frame . . . . ENSG00000244045.13 ENSG00000264488.1 ENST00000292114.8 ENST00000582101.1 downstream upstream . ^(ACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGG___ATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGG___AACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAG___GATACAAGACATGGTGGGACTCTCAGCGA)CCTGGGAAAGCAAG___TGAGATCATTGAAGGCTCTGGTCATCACCATCTTCAATTTCATTGTCACGGTGGTTGCTGCCTTCGTCTGCACTTACCTTGGAAGCCAATATATCTTCACAGAAATGGCCTCG|GATTGTATTGCTGCTTTTAATGGAGCGAATCCCCCCTCCCCACCAGAAACAGCAAAGAAACAGCAACTGGAAGATAACAGAATCATGAAAGCATGATTGAAGAACAAAAAAATGGGACAGCTGACACTTCCACTTCTGTTAAGAGTTC$ MASSLLAGERLVRALGPGGELEPERLPRKLRAELEAALGKKHKGGDSSSGPQRLVSFRLIRDLHQHLRERDSKLYLHELLEGSEIYLPEVVKPPRNPELVARLEKIKIQLANEEYKRITRNVTCQDTRHGGTLSDLGKQVRSLKALVITIFNFIVTVVAAFVCTYLGSQYIFTEMAS|dciaafnganppsppetakkqqlednrimka* 09BR005 ENSG00000258924.4 ENSG00000186393.5 +/+ -/+ chr17:28360847 chr17:40771685 exon/splice-site CDS deletion/5'-5' 1 2 1 153 5 high . . . . . ENSG00000258924.4 ENSG00000186393.5 ENST00000591482.1 . downstream upstream . ^(ACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGG___ATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGG___AACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAAC)GTCACTTGTCAG___GATACAAGACATGGTGGGACTCTCAGCGACCTGGGAAAGCAAG___TGAGATCATTGAAGGCTCTGGTCATCACCATCTTCAATTTCATTGTCACGGTGGTTGCTGCCTTCGTCTGCACTTACCTTGGAAGCCAATATATCTTCACAGAAATGGCCTCG|ATCTTCTATGACTGAGAAGTATCTGCTATAGTCATGATCGTGTTCCCGGGAAGAGCCAGGCTCACATTTCTCGTACCAGCCCTTGATCTTCTGCTCCAGGTCTGCGTTGGCCTCCTCTAGAGCATGCACATGGTCCAGGTAGGATGCCAGGCGGTCGTTGAGATTCTGCATGGTCACCTTTTCATTCCCAGAGAGGAGGCTGTGCTCATTGCCAAG . 09BR005 ENSG00000258924.4 ENSG00000264488.1 +/+ +/+ chr17:28360847 chr17:40809149 exon/splice-site exon/splice-site deletion 1 3 0 153 10 high . . . . . ENSG00000258924.4 ENSG00000264488.1 ENST00000591482.1 ENST00000582101.1 downstream upstream . ^(ACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGG___ATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGG___AACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAG___GATACAAGACATGGTGGGACTCTCAGCGA)CCTGGGAAAGCAAG___TGAGATCATTGAAGGCTCTGGTCATCACCATCTTCAATTTCATTGTCACGGTGGTTGCTGCCTTCGTCTGCACTTACCTTGGAAGCCAATATATCTTCACAGAAATGGCCTCG|GATTGTATTGCTGCTTTTAATGGAGCGAATCCCCCCTCCCCACCAGAAACAGCAAAGAAACAGCAACTGGAAGATAACAGAATCATGAAAGCATGATTGAAGAACAAAAAAATGGGACAGCTGACACTTCCACTTCTGTTAAGAGTTC$ . 09BR005 ENSG00000177200.17 ENSG00000285775.1(188959),ENSG00000259283.2(21692) +/+ ./- chr16:53055077 chr16:55238277 5'UTR/splice-site intergenic inversion 1 2 0 6 6 high . . . . . ENSG00000177200.17 . ENST00000566029.5 . downstream downstream . ^GAGTCCCAGGATTCCGGGGACTGGAGGGCAGCGCCGGCAGCCAAG|ATATAAAGACTGAGGCCCAAAAAAGGGAAAAGGAAGTGACAAAAGTCACCCAGAAAGAAGGTTCCAACTGCgGCTTGACTTCAG...GATGTAGCTCCCACCTGGCCAG___GGACATGGATGAAGCTGGAAACCATCATTCTCAaCAAACTATCACAAGGACAAAAAACCAAATACCGCATGTTCTCACTCATAG___TGACCCCATCAGCTGGAGTAAGGAGAAGTGGAGCAGTGTCCCC . 09BR005 ENSG00000274487.2 ENSG00000274736.5 -/- -/- chr17:38219046 chr17:36014393 exon/splice-site CDS/splice-site deletion 2 0 1 88 82 high . . . . . ENSG00000274487.2 ENSG00000274736.5 ENST00000649858.1 ENST00000612516.4 upstream downstream . ^(CCCCGGTCGCTCTCCTCCGGCGGTCGCCCGCGCTCGGTGGATGTGGCTGGCAGCTGCCGCCCCCTCCCTCGCTCGCCGCCTGCTCTTCCTCGGCCCTCCGCCTCCTCCCCTCCTCCTTCTCGTCTTCAGCCGCTCCTCTCGCCGCCGCCTCCACAGCCTGGGCCTCGCCGCGATGCCGGAGAAGAGGCCCTTCGAGCGGCTGCCTGCCGATGTCTCCCCCATCAACTGCAGCCTTTGCCTCAAGCCCGACTTGCTGGACTTCACCTTCGAGGGCAAGCTGGAGGCCGCCGCCCAG___GTGAGGCAGGCGACTAATCAGATTGTGATGAATTGTGCTGATATTGATATTATTACAGCTTCATATGCACCAGAAGGAGATGAAG___AAATACATGCTACAGGATTTAACTATCAGAAT)GAAGATGAAAAAGTCACCTTGTCTTTCCCTAGTACTCTGCAAACAG|ATGCAGAGACAGAGTTCATGATGTCAAAGCTTCCATTGGAAAATCCAGTACTTCTGGACA___GATTCCATGCTACTAGTGCTGACTGCTGCATCTCCTACACCCCACGAAGCATCCCGTGTTCACTCCTGGAGAGTTACTTTGAAACGAACAGCGAGTGCTCCAAGC(CGGGTGTCAT___CTTCCTCACCAAGAAGGGGCGACGTTTCTGTGCCAACCCCAGTGATAAGCAAGTTCAGGTTTGCATGAGAATGCTGAAGCTGGACACACGGATCAAGACCAGGAAGAATTGAACTTGTCAAGGTGAAGGGACACAAGTTGCCAGCCACCAACTTTCTTGCCTCAACTACCTTCCTGAATTATTTTTTTAAGAAGCATTTATTCTTGTGTTCTGGATTTAGAGCAATTCATCTAATAAACAGTTTCTCACTTTT)$ . 09BR005 ENSG00000160973.8(2278),ENSG00000160972.9(11903) ENSG00000160972.9 ./+ +/+ chr8:144478127 chr8:144490034 intergenic 5'UTR deletion/read-through 6 13 0 22 54 medium . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000160972.9 . ENST00000292539.8 downstream upstream duplicates(1) GGTACCGCGGGCCGGAAGTGTAGCGTTGCCATGGCGAGGGCCGGGTGCGGGGCCCGCCCCCGCAGCGCCTCAGGGAGCGCGGGGCCCACTGACCCGCGGAAGCCAGCGGACCCACTTGTGCGGCGGTCGGCGCGGGGCGCaAG|GTACTGGCACACGGATGAGGAGTCGTAGAAGAGGGGCCTGCAGATTGTGCTCTCAGCAAGCCTGTCGTCTAGTGGAAGACACTGGCCGGGACACAGAGCCCACGTGTGGACACCGCTGTGGGTTGGTGGCAGGGGTCGAGCAGGTGCCATCAGGCACATGAACGGTGGAGTCTTCAAAG___GTGTGAGCAGCTGCTGGAAGAGGAGGTGCTCCTGAAGACACTGCGGCCGGCCCGCCTGTGCCCTTGGTGCCCTGGCTGCCTAGAGAGCCTCACCCCTGGGCCCTGGGGCCAGGACTCCAGGACTCTGACTACCTGCCC(TCCCCCAGCCTCAGCGGCTGCACCTCCTCGTTAGTACTGATGCACTGACCTCGGCACACAGCTGGGAGGGGTTGGGGGCTGGGTCATGGCTGCTCCCAGGCCCCACCCAGGCTCCTGAGCCTAGAAGGTGAAAAGAGGACTCTCAGGGGCTCACAGGGGCTCTCACTGCTGGTTGGCCCTGCCCTCCCTTCCCCCTCAGCAGGGTGCCCGGAAGCTGGAACCTTGTTATCTGGGTAATTAGTTTCAGACCCTGCACTGAGGCCGGCCAGGTCTCGGGGCTGCCTCCCATAGGTTGTGCACCCTGACCCCGAGAGGGAGGCGAGGCGCTGCTTGTCGACAGCTAGAGGCTGGCCTGGGGAGCAGGTTTGGGGTGCCCTCCCACACTGCCCTCCCTGCCCCGGCCCATGCCCCCCAGGGCTGCCTGGGCCTGGTTATTGTGTGGGGCCTCCTGACCCAGCCAAGGGCACGAAGCTCTGGGAAGGGGATGCCCCCGAGGGTGCCAGTCCAGCTAGCTGCCCCACCCCTCAGGCCCAGCCTGGCCCCCAAGCTCCCCACTCTGGTGCCCCGAGCAGCCCTGTGGGCAAGCAGCCGCCGCCATGGCCGAGCACCTGGAGCTGCTGGCAGAGATGCCCATGGTGGGCAGGATGAGCACACAGGAGCGGCTGAAGCATGCCCAGAAGCGGCGCGCCCAGCAGGTGAAGATGTGGGCCCAGGCTGAGAAGGAGGCCCAGGGCAAGAAGGGTCCTGGGGAGCGTCCCCGGAAGGAGGCAGCCAGCCAAGGGCTCCTGAAGCAGGTCCTCTTCCCTCCCAGTGTTGTCCTTCTGGAGGCCGCTGCCCGAAATGACCTGGAAGAAG___TCCGCCAGTTCCTTGGGAGTGGGGTCAGCCCTGACTTGGCCAACGAGGACGGCCTGACGGCCCTGCACCAG___TGCTGCATTGATGATTTCCGAGAGATGGTGCAGCAGCTCCTGGAGGCTGGGGCCAACATCAATGCCTGTGACAGTGAGTGCTGGACGCCTCTGCATGCTGCGGCCACCTGCGGCCACCTGCACCTGGTGGAGCTGCTCATCGCCAG___TGGCGCCAATCTCCTGGCGGTCAACACCGACGGGAACATGCCCTATGACCTGTGTGATGATGAGCAGACGCTGGACTGCCTGGAGACTGCCATGGCCGACCGTG___GCATCACCCAGGACAGCATCGAGGCCGCCCGGGCCGTGCCAGAACTGCGCATGCTGGACGACATCCGGAGCCGGCTGCAGGCCGGGGCAGACCTCCATGCCCCCCTGGACCACGGGGCCACGCTG___CTGCACGTCGCAGCCGCCAACGGGTTCAGCGAGGCGGCTGCCCTGCTGCTGGAACACCGAGCCAGCCTGAGCGCTAAGGACCAAGACGGCTGGGAGCCGCTGCACGCCGCGGCCTACTGGGGCCAG___GTGCCCCTGGTGGAGCTGCTCGTGGCGCACGGGGCCGACCTGAACGCAAAGTCCCTGATGGACGAGACGCCCCTTG___ATGTGTGCGGGGACGAGGAGGTGCGGGCCAAGCTGCTGGAGCTGAAGCACAAGCACGACGCCCTCCTGCGCGCCCAGAGCCGCCAGCGCTCCTTGCTGCGCCGCCGCACCTCCAGCGCCGGCAGCCGCGG___GAAGGTGGTGAGGCGGGTGAGCCTAACCCAGCGCACCGACCTGTACCGCAAGCAGCACGCCCAGGAGGCCATCGTGTGGCAACAGCCGCCGCCCACCAGCCCGGAGCCGCCCGAGGACAACGATGACCGCCAGACAGGCGCAGAGCTCAGGCCGCCGCCCCCGGAG___GAGGACAACCCCGAAGTGGTCAGGCCGCACAATGGCCGAGTAGGGGGCTCCCCAGTGCGGCATCTATACTCCAAGCGACTAGACCGGAGTGTCTCCTACCAGCTGAGCCCCCTGGACAGCACCACCCCCCACACCCTGGTCCACGACAAGGCCCACCACACCCTGGCTGACCTGAAGCGCCAGCGAGCTGCTGCCAAGCTGCAGCGACCCCCACCTGAGGGGCCCGAGAGCCCTGAGACAGCTGAGCCTGGCCTGCCTGGTGACACGGTGACCCCCCAGCCTGACTGTGGCTTCAGGGCAGGCGGGGACCCACCCCTGCTCAAGCTCACAGCCCCGGCGGTGGAGGCTCCCGTGGAGAGGAGGCCGTGCTGCCTGCTCATGTGAGGCTGTTGCTCAGCATGCAGGGGCCCTGTCGCGGGCACAGCCCAAGGCTGCCTCCCCACGGTGCGTGCCCTGGTGCTGCGGGTGCAGCACGGAAACCCCGGCTTCTACTGTACAGGACACTGGCCCCTCTCAGGTCAGAAGACATGCCTGGAGGGATGTCTGGCTGCAAAGACTATTTTTATCCTGCAACTCTTGATAAAGGGCTGTTTTGCCATGGA)$ . 09BR005 ENSG00000185630.19 ENSG00000201987.1(30210),ENSG00000225487.2(36776) +/+ ./+ chr1:164821626 chr1:164884542 CDS/splice-site intergenic deletion/read-through 3 10 0 290 21 medium stop-codon . Homeobox_domain(100%),PBC_domain(100%)| . . ENSG00000185630.19 . ENST00000367897.5 . downstream upstream mismappers(1) ^(ATGGACGAGCAGCCCAGGCTGATGCATTCCCATGCTGGGGTCGGGATGGCCGGACACCCCGGCCTGTCCCAGCACTTGCAGGATGGGGCCGGAGGGACCGAGGGGGAGGGCGGGAGGAAGCAGGACATTGGAGACATTTTACAGCAAATTATGACCATCACAGACCAGAGTTTGGATGAGGCGCAGGCCAG___AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTGTTGTGTGAAATCAAAGAAAAAACAG___TTTTGAGTATCCGAGGAGCCCAGGAGGAGGAACCCACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCTGAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGTTCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATCTACCATACGGAGCTGGAGAAATACGAGCAG___GCCTGCAACGAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATGGTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGCGAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG___GCGGAAGAGACGGAATTTCAACAAGCAAGCGACAGAAATCCTGAATGAATATTTCTATTCCCATCTCAGCAACCCTTACCCCAGTGAGGAAGCCAAAGAGGAGTTAGCCAAGAAGTGTGGCATCACAGTCTCCCAG___GTATCAAACTGGTTTGGAAATAAGCGAATCCG)GTACAAGAAGAACATAGGTAAATTTCAAGAGGAAGCCAATATTTATGCTGCCAAAACAGCTGTCACTGCTACCAATGTGTCAGCCCATGGAAGCCAAGCTAACTCGCCCTCAACTCCCAACTCGGCTG___GTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGT|GAAATTGCAAGAACCTATTGATGGCTTGGATGCTCTGGTGGTGACAGCAAGTCCTCTTCTCTTGACTGAAGAAATGTCTTCCCCTATCTGAAAAGTGGCCTCTCTTCCGGAATGACACATACTGACTTTTGAAGAAGCAAAAGGATACCTGCTGGCCAGTCATATCAGCCAAAAAACTCTGGTGAG . 09BR005 ENSG00000131748.16 ENSG00000223125.1(8434),ENSG00000197079.8(109) +/- ./+ chr17:39660907 chr17:41476580 intron intergenic inversion 4 6 0 11 17 medium . . . . . ENSG00000131748.16 . . . upstream upstream . ACCGGACATATTTGTGCGTCGGGGGCTTGGCgCTGTGTGAGGTGGCGATCCCTGATGACAAGTATCGGTCCCTGCGCCGCTCAATGCGCCGGACATTCACGAAGTCCCTGCGGGAGGGAGGGTTAGTTCAGGGGACAATGACCCAAGGCCAAAGTGCAGAAGACCTGGCTGAAAGGAGGGG|CATAGTGACCCTGTCATCCAAAGGGTCATACTTGGTCACACATCTCCCATTCGGCTGCCCAACAGTCACCCCCTGGACACAGCAGAGACACAAGCCAACAACACCAG . 09BR005 ENSG00000141736.13 ENSG00000266202.1 +/+ -/+ chr17:39700311 chr17:27832424 CDS/splice-site intron duplication/5'-5' 4 6 0 4357 49 medium out-of-frame . . . . ENSG00000141736.13 ENSG00000266202.1 ENST00000269571.9 . downstream upstream duplicates(1) ^(GGAGAAACCAGGGGAGCCCCCCGGGCAGCCGCGCGCCCCTTCCCACGGGGCCCTTTACTGCGCCGCGCGCCCGGCCCCCACCCCTCGCAGCA)CCCCGCGCCCCGCGCCCTCCCAGCCGGGTCCAGCCGGAGCCATGGGGCCGGAGCCGCAGTGAGCACCATGGAGCTGGCGGCCTTGTGCCGCTGGGGGCTCCTCCTCGCCCTCTTGCCCCCCGGAGCCGCGAGCACCCAAG|GGCATACAGCTTATTAGGCCTGCCTCTGCAGGTGCCCGATCAAAAGGTTGGCAGCCCCCAAGAAAATGGCTGGACAGAAATGTGGATTGCACCACATTTGTG___GTACCTGGACCCCTACCAAATGGATCCACTAGCACACAGGCCTCAGATAAGGGGGAACTGCGGATTGAACTC MELAALCRWGLLLALLPPGAASTQ|ghtay* 09BR005 ENSG00000109079.10 ENSG00000171475.14 +/- +/- chr17:28345684 chr17:40253912 3'UTR intron duplication 5 3 0 165 7 medium . . . . . ENSG00000109079.10 ENSG00000171475.14 . . upstream downstream . CCAAGCCAAACAAAAAGGAATGAAAACCAAAGCCCTAAAGAGGAACTCACCTCCTGGCTAGTGCTTGGCATCTCCATGGCTGAGTTACCCAACAAGGAGTGAAGGCCTTCAGGGTGCTTCGGTTGCTCCTGTCATCCCGCGCTCAGAGACACCACTGGGCAGAACCGCCATCCCAGCCAGCACCAACCAAGAGCATAGATGGTGTGGGCAGGGAGTAGATGTGTGGC|TCTGGGAATGATGAAAGGAAAGGGAAATTTTTCCAACAGTTCTATAAAACCAAAAACCACTGCAGGAGAGTAGAATTTGATCAGAAATGAGACAGTAAAAGTCTTCAAAATCCCAACTCCTGCCAGTGTGATGCCACTATAGGCTGGCTGCCC . 09BR005 ENSG00000171475.14 ENSG00000131748.16 +/+ +/- chr17:40265425 chr17:39662510 intron intron inversion/3'-3' 3 5 0 11 31 medium . . WH2_motif(100%)| . . ENSG00000171475.14 ENSG00000131748.16 . . downstream downstream . AGGGAAATAGCAATAAATAGAAAAGACAAAAAAATTTGACAGTCAAACTAGTAAAATATATAAATACATAGTATGCAGTATGCTTTAGAGAATTACAAAGCAGAGGAGAGGAATAAGATATACTGGGGCGGAGGTCGGG|CTAAGAGACCATCTGGACCCTGACCCAAATTTTCAAGTAAGAAAGGTGGCTGACAAAGGGGAGGCCCAGGCATGGCAGAGAGCCCCCAAAGTCATGCAGCAACCAAGTCAGCAGCAGGGTCCCCTCCACTCCACAGAACCCACCTGGCAGCCCCCCAGCACCCCACCTTGAG . 09BR005 ENSG00000103064.15 ENSG00000170100.13 +/- +/+ chr16:68274417 chr16:89233960 intron 3'UTR inversion/3'-3' 2 4 0 6 6 medium . . . . . ENSG00000103064.15 ENSG00000170100.13 . ENST00000620195.4 upstream upstream . CTTCACTGCTCCCAAGAAAGACACCATGAGAGCTCACGCATGATGTGATAATGACTTCTGATGACAAATACCTGTCCTGCAGCCCAGAATAGGCTGGCAT|GCAGACTAGCCAGCCCCAGACTTCATCCTGCCCTGTCCTGCCTTTCCTGTGAAAACCtTGTGGCCTCTGCCTCCCCTGGCTCTGACTTCTGCCTCCTGCCCAGCTCTGCAGCTCCCCTTGGGCCCTGCCTGGAGTGATGTGCCGCCTTCTCTTGACACTGTGAGTGATAAACTTTCCATGTCAGGAACCTGTGTGTGTCACTCACTCACCTTGACGAGTCCGCGTCTAGGtCCC(ACCAGTGGTGTGGTTTTCCTCATAGTCTCTCTACCTAAGCACATGTCTGTGACAAGGTCTTACCCAGCCCAGGGATTCTTGAACTATCTGTAGGAACTGCCATGTTGACTCCTGGGCAGTTTTATTCTTTCTCTCTACTCGTTCAACCTTCTTAGGGAGTGACGTTTTTTCCAAAGTGGTTGTGAAACAGCATCTCCTTGGGGTGTTGGTTTGCACTTCTCTTCATTACTGATAGTATGAACATGGTTTTGCTTACGCTGGCTATTTTCCTTTTTGGATGAAGTACCTGGTCTTGTTTTTTCCTGGTTTGTTTGATCTTTGTTCTTTTTTAGAAATAGTGAGGCTGTTGTGAGGTGAGTCACCACTTGTGACTTAGAAGATTGCAGTGGTTTCCACTTCACCTGTTTCCACTTTTGTGATGATGCCTTAAGGAAAAAGATTGTGCCAGGTGTGGTGGCTCAGGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACGCCATCTCTACTAAAAATAGAAAAATTGGCTAGATGTGGTGGTGCACGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAGATGGGAAGCACAGATTGCAGTGAACCGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAGGAAAAATATTTCTTAATTTTGGCATACTCAAATTTATACAACCTTTCCTTTATCTTCATCAGAAATTTCTTTTCTCCTAAGGCCTTAAATATGCTGTACTATTTTGGCTTCCACAGTTTCTATGTTTTATCCCAAGTTGCTTAATCCATTTGGAGTTGATTTTTGTTGACCGTATCTGTAGAGTGTAATGTCATTTTTCCCACTATGGACATAAAAATTTTTGCAAGGCCTCTTTTTTTTAATGAAGAAAAGAGGTTTATTTTGTTCACAATTCTGAAGGCCTGGAGGGTCCCAGAAGCTTGGCACCAGCACCCACTAGGCTCCAGATCGGGGCCTCATGCTGACTTCCGTTTTCACACAACGAGTGGGAAACAGGTGTCCTAACACTGTGAGAGAAAAAATCCGAAAGTTTAGTTTTTCCCATTCGCTTGCCCTGGCCTCCAGGCAGTCCTGCAGCAGCAAACACATCATCAGCCTTAGGAGCTGGCCTGTGAGGTTGACCACTCTGTAGGTGGACGAGCCTCGCCCGAGAAGAGACATGAGCAGTTCTGCGTAGGCTTTAAGACAGAATCAACATGGAAAGCACGACCCACATGGTTTCAATAGAACTTGCCTCCTGAACCTGACTAGGTTACTCGCCTGATGAACCAGTATCTCCATCACCCGTGGGACTGACAGACCCAGAGTGTCATAACCTAAAATTCAGAAGTGTAGACTATAATCTTAAATTATTCAGCATATGTGCAACAGCCTTGGGGAGCAGTGTTATGATACCAAATGGCTAACATTCATGACCTCAGTATCCTGGAAGAAAAGGAGAAAGTGTGATGTAGTAAAACCACTTGAAAAAATAATGATGAAACATTTCTCATATTTGGTGTAAGATAAAAACTTAAGTTTGAAGAGGTTCCATGAGCCCCAGACAGGATAAACCTAAAGAAAACCAAGCCCAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCATGACCATCCTGGCCAACACAGTGAAACCTCGTCTCTAGTAAAAAAAAAAAAAAAAAAGAAAAATACAAAAATTTAGTTGGGCGTGGTGGCGGGCGACTGCAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCATGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAGAAGAAAGAAAAGAAAACCAAGCCCCTGCCACCACGAAGCTGCCGAAAGCTACAGAGTGAAAGTCTTGGAAGGAGGCTGAGAAAGTGGACACAGTGCTTCCAGAAGAACAATTCAATTGACCGGGTTTCTCGTCGGAAGCCATAGAGGCCAACAGGAAATGTAGGAGCATTTTTCAAGTTCTGAAATAAAAAGAAATGCCAACCCAGATTGCTATATCCAACAAAATATCCTTTAGGAATGAAACAGAAGTAACGATGAGGCAATACAAAGAATTGCCTGCAGACCTGGTTTAAATAAATGGTTACAGAAAACTCTTAAGGAAACCTGGAACAAAGGAAAAGCAATAGAAGAGTAAATACCTGAGTAAATAGATCAGATCATTCTACTCTTGAGTTCTTTAAAATATATATTATTGTCAAAAGCAAAAATTATCACATGGGGTTTCAACTGATGTATATTTAATACATAAGACAACTACAACATGAAGGTGAGGGGCAACGTGGCTGGACGGCGTGGAGGTTCCGTGCTCCATTTCAGTGGCAAAATACCATTCCAGAAGGACTGGAAAAGCTAAGTCTGTATATTTTAATTACTAAAGAAGTGTACAGCTGGGTGTGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGAGTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAGAAATACAAAAATTAGCTGTGTGTGGTTGGGGGCACCTGTAATCTCAGCTTCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTCAGTCGAGATTGTGCCACGGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCT)$ . 09BR005 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 0 6 0 336 32 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAA)TAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGC(AG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 09BR005 ENSG00000265460.6 ENSG00000197079.8 +/- -/- chr17:39242461 chr17:41479516 intron intron duplication/3'-3' 3 2 0 6 29 medium . . |Intermediate_filament_protein(100%) . . ENSG00000265460.6 ENSG00000197079.8 . ENST00000246639.6 upstream downstream . GCTGGTTCACTGCAAGCTCCGCCTCCCAAGTTCACACCATTCTCCAGCCTCGGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGT|TCTATGCCTGCAGGTATGAGACGGAGGTGTCCCTGCGGCAGCTGGTGGAGTCAGACATCAACGGCCTGCGCAGGATCCTGGATGACCTGACCCTGTGCAAGTCTGACCTGGAGGCCCAGGTGGAGTCCCTGAAGGAGG(AGCTGCTCTGCCTGAAGAAGAACCATGAGGAG___GAAGTGAACTCACTGCGCTGCCAACTTGGTGACCGCCTCAATGTTGAGGTGGACGCTGCCCCACCTGTTGACCTGAACCGAGTTCTGGAGGAGATGAGGTGCCAGTATGAAACCCTGGTGGAGAATAACCGCCGGGATGCTGAAGACTGGTTGGACACCCAG___AGTGAGGAGCTGAACCAGCAGGTGGTGTCCAGCTCAGAGCAGTTGCAGTCCTGCCAGGCAGAGATCATCGAGCTGAGACGCACGGTCAACGCCCTGGAGATTGAGCTGCAGGCTCAGCACAGCATG___AGAGATGCTTTGGAATCCACCCTGGCAGAGACGGAGGCCCGCTATAGCTCCCAGCTGGCCCAGATGCAGTGCATGATCACCAACGTGGAGGCCCAGCTGGCCGAGATCCGGGCTGACCTGGAGCGGCAGAACCAGGAGTACCAGGTGCTGCTGGACGTCCGGGCCCGGCTGGAGTGTGAGATCAACACGTACCGGGGCCTGCTGGAGAGTGAGGACAGCAA___GCTCCCCTGTAACCCATGTGCACCTGACTACTCACCCTCCAAGTCATGCCTTCCCTGTCTTCCTGCGGCCTCCTGCGGTCCTAGTGCAGCCCGCACAAACTGCAGCCCCCGCCCCATTTGTGTGCCCTGCCCAGGGGGTCGGTTCTGAGAGCGGGTGACCCAGATGGCCATGGCTATTGTCTCCAGGGCTTGAACTTGGCCTCTACCCAAACTTAACCCTTGTAGCCCAATCCCCTCTCTTCGCGCAGAGCCCAGGCCCAGGGTCTGGCTGAAAAGGCTTTCTGCAAATACATGCCCTAAAGTTTCTCAGAGCCTGTCACAAAGGCCGGCTGCCCCCAAAGGTCTCAACTCCTCATCATTTCAATGGGTGCCAGGGTCTCTGTTCTCAGGCTGCCTCCTGGGTCAGGTTTTCCTTCTAGGTGCTGTTCCGGTGGATTCTGAAATGCAGTAGAGGGCTTTTGTTGGCAGAACAATAAAGTGCATTTGCTCAGGCCCCTGATGCCTAACTTGCACCA)$ . 09BR005 ENSG00000094804.12 ENSG00000277363.5(17211),ENSG00000273604.2(48540) +/+ ./- chr17:40291668 chr17:38623163 CDS/splice-site intergenic inversion 0 5 0 446 8 medium out-of-frame . AAA_domain(100%)| . . ENSG00000094804.12 . ENST00000209728.9 . downstream downstream . ^(ATTCGGATTTGGCGCGAGCGCGGCTGGAGTTTGCTGCTGCCGCTGTGCAGTTTGTTCAGGGGCTTGTGGTGGTGAGTCCGAGAGGCTGCGTGTGAGAGACGTGAGAAGGATCCTGCACTGAGGAGGTGGAAAGAAGAGGATTGCTCGAGGAGGCCTGGGGTCTGTGAGGCAGCGGAGCTGGGTGAAGGCTGCGGGTTCCGGCGAGGCCTGAG___CTGTGCTGTCGTCATGCCTCAAACCCGATCCCAGGCACAGGCTACAATCAGTTTTCCAAAAAGGAAGCTGTCTCGGGCATTGAACAAAGCTAAAAACTCCAGTGATGCCAAACTAGAACCAACAAATGTCCAAACCGTAACCTGTTCTCCTCGTGTAAAAGCCCTGCCTCTCAGCCCCAGGAAACGTCTGG___GCGATGACAACCTATGCAACACTCCCCATTTACCTCCTTGTTCTCCACCAAAGCAAGGCAAGAAAGAGAATGGTCCCCCTCACTCACATACACTTAAGGGACGAAGATTGGTATTTGACAATCAGCTGACAATTAAGTCTCCTAGCAAAAGAGAACTAGCCAAAGTTCACCAAAACAAAATACTTTCTTCAGTTAGAAAAAGTCAAGAGATCACAACAAATTCTGAGCAGAGATGTCCACTGAAGAAAGAATCTGCATGTGTGAGACTATTCAAGCAAGAAG___GCACTTGCTACCAGCAAGCAAAGCTGGTCCTGAACACAGCTGTCCCAGATCGGCTGCCTGCCAGGGAAAGGGAGAT)GGATGTCATCAGGAATTTCTTGAGGGAACACATCTGTGGGAAAAAAGCTGGAAGCCTTTACCTTTCTGGTGCTCCTGGAACTGGAAAAACTGCCTGCTTAAGCCGGATTCTGCAAGACCTCAAG|GATCTCGCTCTGTTGTCCATGCTGGAGTGCAGCACCATGACCACAGCTCACTGCAGCCTACTTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCTTCCCAAGTAGCTGGGACCACAGCTGCATGCTACCATGACTGGCTAATTTTTGTATTTTTGGTAGAGACAGG MPQTRSQAQATISFPKRKLSRALNKAKNSSDAKLEPTNVQTVTCSPRVKALPLSPRKRLGDDNLCNTPHLPPCSPPKQGKKENGPPHSHTLKGRRLVFDNQLTIKSPSKRELAKVHQNKILSSVRKSQEITTNSEQRCPLKKESACVRLFKQEGTCYQQAKLVLNTAVPDRLPAREREMDVIRNFLREHICGKKAGSLYLSGAPGTGKTACLSRILQDLK|dlallsmlecstmttahcsllpglkrssrlsfpsswdhscmlp* 09BR005 ENSG00000152127.9 ENSG00000115520.8 +/+ +/+ chr2:134120291 chr2:197459932 5'UTR/splice-site CDS/splice-site deletion 0 4 0 2 112 medium . . . . . ENSG00000152127.9 ENSG00000115520.8 ENST00000409645.5 ENST00000263960.6 downstream upstream . ^(AGCCCAGGTAGCCGCGCCGCAGGCTCGGGGCGTCGCGACCTCGCGCCTCGGGCCG)CGTGGGCACGGCGGCCGGCGGGTGCTCCCGGCTGCTGCTGCTGCCCAACAAGGAG|ATATTTAGCTTCCTGTGGTATACTGATGAGCAGAACTCTTCCACTACATACCTCAATTTTGCCTAAGGAGATATGTGCACGAACTTTCTTCAAAATCACTGCACCATTAATAAACAAAAGGAAAGAATATTCAGAGAGAAGAATTTTAGG___ATATTCtATGCAGGAAATGTATGATGTAGTATCGGGAGTGGAG(GATTACAAGCATTTTGTTCCTTGGTGCAAAAAATCAGATGTTATATCAAAGAGATCTGGATATTGTAAAACAAGATTAGAAATTGGATTTCCACCTGTGTTGGAGCGATATACATCAGTAGTAACCTTGGTGAAACCTCATTTAGTAAAG___GCATCTTGTACTGATGGGAGACTTTTCAATCATTTGGAGACTATTTGGCGTTTTAGCCCAGGTCTTCCTGGCTACCCAAGAACTTGTACCTTGGATTTTTCA___ATTTCTTTTGAATTTCGATCACTTCTACATTCCCAGCTTGCCACACTCTTTTTTGATGAAGTTGTGAAGCAGATGGTAGCTGCCTTTGAAAGAAGAGCATGTAAGCTGTATGGTCCAGAAACAAATATACCTCGGGAGTTAATGCTTCATGAAGTCCATCACACATAAAGGCAAAAAAGAACTGGTGCCACCTGCTTCTGACTTTAGTTTGTTCACTTTTAGGAAGTATTTTCATGACATGTTTTCAGAAGCCAGAAAGCATTTGTTAAACGCAGCTTTGGTTATAAACCTGCACCATTGAAAATTTGCACATAGAATATAGACTCACTTGTACATAGAATTATTTCTTCAAGTATAATTCAAAATAATATGGACATTATCATGTTCTGCATTACAATAATGGGATGTCATCACCATTGCTAGAATACTGGCATGATTCTTCTGAGCAGAAGTTGAAACTGTAAATTTAAACCTTTTAATTATCACCTTACCTGAAAGAGGTTAGTTAAGATATTCACACAGTATGTATTATATTAACCATATCACACTTAAGTTATTAAATTCAGACTATTTGTAACTTATTGTTATAGGGCCTGCCGTATGGCTTAGGATATTTGAGTAATCATATATTTAAAGTAAAAACTTTGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTGGGGAAGCTGAGGTGGGCAGATCAGTTGAGGTCAGGAGTTCTAGACCAGCCTGGTCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCACAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTTAGCCAAGATCGCCCTGCTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCCAAAAACAAAAACAAAAACTGTTAGTGAAGGTTCCCTGGGACTTTTGATATTTTAAAAATTGTTCTTATGACTAGTAGATAAATTCATTGCCATAATGAGGCTAGCTCCCAGATAAACAGTGTATTTTCTTCTTTTTTTTTTTTTTTTTGGTGAGTGGTCCAGAGCTTTAAGCTACTTTTCCAGTAGTTTGCCACTTTCTCCGAGGTAGTTTGGCTGCTCTTTCAGTAATGCTAATTGTGTGTCAAATTTTGTCTACAACAGTAGGCAACAGATGAAGATAAGTTGGTTGAATGTCTCCAGCACTATGCATCCCTATTTTCTATTTATTGTGTACACTCACTTTCAGTAATGTGTTTCAAACTGGTATTTTTTAAAAAACAAATCAATGTAAGGACTGAAGTTGAAGTAGCAATGTAATAAAGTTAATTTGTTTATTTTTTGTACAGTTAGTTTGGTTATTGAAATCTTCCTATATTGTTTAAATGTGTATTTGCATAGACATAGTAAAGTGTTACAGCATTTCATGTCTTAAAAATATCTATGAAGATATCTAAAATATCTATTTCTATGAAGAAACAGACTTTAACAAATATAAGCAAAATTCAGTTTTCTTTTAACCAGT)$ . 09BR005 ENSG00000108306.13 ENSG00000277791.5 -/- +/+ chr17:39401361 chr17:38752710 CDS/splice-site 5'UTR inversion 0 4 0 85 57 medium out-of-frame . |Proteasome_subunit(100%) . . ENSG00000108306.13 ENSG00000277791.5 ENST00000264658.11 ENST00000619426.5 upstream upstream . ^(GGAGAGAGCCGAGCTAGCGACGAGCAGTCGTTGCGGCCGCCGGCGCCGCGGGAGGTGGTGGAGGCCTAGCCGGAGCCGAGAGGTCTCTTGTTCCCGTCCCACGGTCCCGGCGTCACCCCTCCGGCGCCCAGTCCCCGTCCCGGAACTCCCGGGCCTGTCCTGGGCCCCCGGTCT)GTGCACTCCGCTCGCCGCAGCGCCCGGCCCGGGCCGCACCCGCCGGCCCCATGAGGAGGGACGTGAACGGAGTGACCAAGAGCAGGTTTGAG|GAAGAGTCCGCCTATCAGCCAATGAAGAGACAGCAGTGAGAGCGGTTGCGCAGTGAAGGCTAGACCCGGTTTACTGGAATTGCTCTGGCGATCGAGGGgTCCTAGTACACCGCAATCATG___TCTATTATGTCCTATAACGGAGGGGCCGTCATGGCCATGAAGGGGAAGAACTGTGTGGCCATCGCTGCAGACAGGCGCTTCGGGATCCAGGC(CCAGATGGTGACCACGGACTTCCAGAAGATCTTTCCCATGGGTGACCGGCTGTACATCGGTCTGGCCGGGCTCGCCACTGACGTCCAGACAGT___TGCCCAGCGCCTCAAGTTCCGGCTGAACCTGTATGAGTTGAAGGAAGGTCGGCAGATCAAACCTTATACCCTCATGAGCATGGTGGCCAACCTCTTGTATGAGAAACG___GTTTGGCCCTTACTACACTGAGCCAGTCATTGCCGGGTTGGACCCGAAGACCTTTAAGCCCTTCATTTGCTCTCTAGACCTCATCGGCTGCCCCATGGTGACTGATGACTTTGTGGTCAGTGGCACCTGCGCCGAACAAATGTACGGAATGTGTGAGTCCCTCTGGGAGCCCAACATG___GATCCGGATCACCTGTTTGAAACCATCTCCCAAGCCATGCTGAATGCTGTGGACCGGGATGCAGTGTCAGGCATGGGAGTCATTGTCCACATCAT___CGAGAAGGACAAAATCACCACCAGGACACTGAAGGCCCGAATGGACTAACCCTGTTCCCAGAGCCCACTTTTTTTTCTTTTTTTGAAATAAAATAGCCTGTCTTTCA)$ MRRDVNGVTKSRFE|eesayqpmkrqq* 09BR005 ENSG00000131759.18 ENSG00000171532.5 +/+ -/- chr17:40309286 chr17:39608065 5'UTR/splice-site intron inversion 0 4 0 101 29 medium . . |Helix-loop-helix_DNA-binding_domain(100%),Neuronal_helix-loop-helix_transcription_factor_(100%) . . ENSG00000131759.18 ENSG00000171532.5 ENST00000254066.10 ENST00000302584.5 downstream downstream . ^(GCAGCAGCCTAACCCAGAAGCAGGGGGGAAT)CCTGAATCGAGCTGAGAGGGCTTCCCCGGTTCTCCTGGGAACCCCATCGGCCCCCTGCCAGCACACACCTGAGCAG|AGAGTGACAGATGGCGGCGGGTCCCGGGGGAGCCGGCTCTCCCCCAGTGCAGACGCATGCCAATCACCGTCTCTCATGTGATAGCTGCTGCCCGTGACGTGCCAAGCCCATATGGCCTGGCATAGAGGCTGGTACCCCGCCTGGTAGAGATGCCACACTCGCTCCGCGGTTCGCAT(GGCGCTCTGAAGACGCCGGCGCCCGCCGCCTTGAGGAGCCGCTGCCCCCGCTCCCTGAAGATGGGGGAACAATGAAATAAGCGAGAAGATCCCTCTTCTCCCCCCTCTCTCTCTTGCCCCCTCCCCCCCTCCCCTCCCCTCTCCCCTTGACTCCTCTCCGAG___GCACCATGCTGACCCGCCTGTTCAGCGAGCCCGGCCTTCTCTCGGACGTGCCCAAGTTCGCCAGCTGGGGCGACGGCGAAGACGACGAGCCGAGGAGCGACAAGGGCGACGCGCCGCCACCGCCACCGCCTGCGCCCGGGCCAGGGGCTCCGGGGCCAGCCCGGGCGGCCAAGCCAGTCCCTCTCCGTGGAGAAGAGGGGACGGAGGCCACGTTGGCCGAGGTCAAGGAGGAAGGCGAGCTGGGGGGAGAGGAGGAGGAGGAAGAGGAGGAGGAAGAAGGACTGGACGAGGCGGAGGGCGAGCGGCCCAAGAAGCGCGGGCCCAAGAAGCGCAAGATGACCAAGGCGCGCTTGGAGCGCTCCAAGCTTCGGCGGCAGAAGGCGAACGCGCGGGAGCGCAACCGCATGCACGACCTGAACGCAGCCCTGGACAACCTGCGCAAGGTGGTGCCCTGCTACTCCAAGACGCAGAAGCTGTCCAAGATCGAGACGCTGCGCCTAGCCAAGAACTATATCTGGGCGCTCTCGGAGATCCTGCGCTCCGGCAAGCGGCCAGACCTAGTGTCCTACGTGCAGACTCTGTGCAAGGGTCTGTCGCAGCCCACCACCAATCTGGTGGCCGGCTGTCTGCAGCTCAACTCTCGCAACTTCCTCACGGAGCAAGGCGCCGACGGTGCCGGCCGCTTCCACGGCTCGGGCGGCCCGTTCGCCATGCACCCCTACCCGTACCCGTGCTCGCGCCTGGCGGGCGCACAGTGCCAGGCGGCCGGCGGCCTGGGCGGCGGCGCGGCGCACGCCCTGCGGACCCACGGCTACTGCGCCGCCTACGAGACGCTGTATGCGGCGGCAGGCGGTGGCGGCGCGAGCCCGGACTACAACAGCTCCGAGTACGAGGGCCCGCTCAGCCCCCCGCTCTGTCTCAATGGCAACTTCTCACTCAAGCAGGACTCCTCGCCCGACCACGAGAAAAGCTACCACTACTCTATGCACTACTCGGCGCTGCCCGGTTCGCGGCCCACGGGCCACGGGCTAGTCTTCGGCTCGTCGGCTGTGCGCGGGGGCGTCCACTCGGAGAATCTCTTGTCTTACGATATGCACCTTCACCACGACCGGGGCCCCATGTACGAGGAGCTCAATGCGTTTTTTCATAACTGAGACTTCGCGCCGGCTCCCTTCTTTTTCTTTTGCCTTTGCCCGCCCCCCTGTCCCCAGCCCCCAGAGCGCAGGGACACCCCCATCCTACCCCGGCGCCGGGCGCGGGGAGCGGGCCACCGGTCCTGCCGCTCTCCTGGGGCAGCGCAGTCCTGTTACCTGTGGGTGGCCTGTCCCAGGGGCCTCGCTTCCCCCAGGGGACTCGCCTTCTCTCTCCCCAAGGGGTTCCCTCCTCCTCTCTCCCAAGGAGTGCTTCTCCAGGGACCTCTCTCCGGGGGCTCCCTGGAGGCACCCCTCCCCCATTCCCAATATCTTCGCTGAGGTTTCCTCCTCCCCCTCCTCCCTGCAGGCCCAAGGCGTTGGTAAGGGGGCAGCTGAGCAATGGAACGCGTTTCCCCCTCTCATTATTATTTTAAAAACAGACACCCAGCTGCCGAGGCAAAAAGGAGCCAGGCGCTCCCTCTTTCTTGAAGAGGGTAGAAGTTAGGGCGCCGGAGCCCGGGCCTGGAACGCCCTCACCCCCAACCTCCAGTCTCCGCGTTTTGCGATTTTAATTTTGGCGGGAGGGGAAGTGGATTGAGAGGAAAGAGAGAGGCCAAGACAATTTGTAACTAGAATCCGTTTTTCCCTTTTCCTTTTTTTAAACAAACAAACATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTAAGAGGCGACGGAAGCCGAACGCAGAGTCCGGATCGGAGAGAAAACGCAGTAAGGACTTTTAGAAGCAATAAAAGGCAAAAAAAACAAAAAACAAAAAAACAAACAAAAAAAAACCACTACTACCAATAATCAAAGACACAAATATCTATGCAAGGAGGCTCCACTGAGCCTCGCGGCCCGGCCCGGCCCCGGGATGCCCCGCCCGGCCTGCGGGCCGCCCCGCCCGAGCGCGGATCTGTGCACTTTGGTGAAGTGGGGGCCCGCGCCGCCCCCTCCCCCTCCCCAGGTTCTTACAATCAGTGACTCGGAGATTTGGGGCCCCAGTGCCACTGCCCTCCCCCGCCCCGTCCCCGTTGTGCGTCATGCTGTTTTTTAAAAACCTGTTTCCAAATTTGTATGGAATGGCAAACTGTTGGGGGGTCGGTTTGGGGAGGGAGGGTTTGCATGAAAGACACACGCACACCACACCGCACGCACAAGCAGGCCCGGCGCCGGCGTCCGGGGGGCAGAAGGAGGTGAGCTCGCCGGCTCCTCCTCCCCGCGGCCATTCTGTCCCCTCCTGGGGTGAGGGGTGGGGATGGAGACCTGGGGGCAGCCCCACCCCTGCCCGGACTGTGCCTCGGTGGGTGCCACCTGGCGATTTCCGGTGTCTGGAGAGAGTATTTTTTGGTCCAAGGAGTCCTCTTGGCTTTAGCTGGTGGGTGGGCGGGGAGAGGTCTGAGGGCTCCTACTGGAGGTTCCCCCAAAAAGGGGCAAAAGGAGACCCTCTGCCCACCGGAGGCAGGGGATCAGGCATCCAAATACACGATGCAAAAATGCAATCCCACAGGCGACACACCCACACACTCACCCACACACACGCAATTTTACCTTCCTCTTGTAGCGAAGATGAAACTCCCGTCGGACACCCGAAGTGCATTGCGTGTTTCTGTTCAGTTTAATGACGATTAATAAATATTTATGTAAATGAGATGCAAAGCCGGA)$ . 09BR005 ENSG00000267134.3 ENSG00000267134.3 +/+ +/+ chr18:64249393 chr18:64136367 exon/splice-site intron duplication 2 2 0 14 44 medium . . . . . ENSG00000267134.3 ENSG00000267134.3 ENST00000589376.1 . downstream upstream . ^(GGATATAGGTGGTACCTACATGGGAACACATTGTCTAATACCACCCAGAATGGGTAGCAAAGTTCATAGTGAAGTTTCCACTGTGAGCGGCAGGTGGCGGGCTCTTCTGAGAAAGAAGCTTCTAGATGCATATTGTGGGGAGCAG___ATGAAACTCTGAGGCTTTCAGGGACGTGAGGTACGGTGCCAAGGCCACACCACTG___)AGACAGGGGTCTCACTATGTTGCCCAAACTGGCCTTGATCTTCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCGAGTCGCTGGGATTGCAG|TTCCATATGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGCACCTCTTCACAGGGCGGCAGAAGAGAGAATGAGAGTGGAGAGAAGGGAGAAGCCCCTTATAAGACCATCAGATCTCATGAGA----ACTCACTATCGTGAGAACAGCATGGGGCAAACCACCCCCATAATTCAATTATCTCCACCTGGTCCCACCCTTGACACCTGCGGATTATTACAAATCAAG___GGAGAGGATAGGGGAATCcGGA . 09BR005 ENSG00000267134.3 ENSG00000179676.7 +/+ -/+ chr18:64249393 chr18:64136367 exon/splice-site intron duplication/5'-5' 2 2 0 14 44 medium . . . . . ENSG00000267134.3 ENSG00000179676.7 ENST00000589376.1 . downstream upstream small_insert_size(1) ^(GGATATAGGTGGTACCTACATGGGAACACATTGTCTAATACCACCCAGAATGGGTAGCAAAGTTCATAGTGAAGTTTCCACTGTGAGCGGCAGGTGGCGGGCTCTTCTGAGAAAGAAGCTTCTAGATGCATATTGTGGGGAGCAG___ATGAAACTCTGAGGCTTTCAGGGACGTGAGGTACGGTGCCAAGGCCACACCACTG___)AGACAGGGGTCTCACTATGTTGCCCAAACTGGCCTTGATCTTCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCGAGTCGCTGGGATTGCAG|TTCCATATGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGCACCTCTTCACAGGGCGGCAGAAGAGAGAATGAGAGTGGAGAGAAGGGAGAAGCCCCTTATAAGACCATCAGATCTCATGAGA----ACTCACTATCGTGAGAACAGCATGGGGCAAACCACCCCCATAATTCAATTATCTCCACCTGGTCCCACCCTTGACACCTGCGGATTATTACAAATCAAG___GGAGAGGATAGGGGAATCcGGA . 09BR005 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51878389 chr19:51855967 CDS/splice-site intergenic deletion/read-through 1 2 0 77 32 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCT)TCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAGACCATCAGCCTTCAACCACCACCCTTGTATCAGAGGAGACAAATAAGCTTGGAAATCCTCAAAAAGCCTCATCCTCAGAGCAAT MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSI|dlhyrwktaasepq* 09BR005 ENSG00000244045.13 ENSG00000173908.9 +/+ -/+ chr17:28360847 chr17:40798292 CDS/splice-site CDS deletion/5'-5' 0 3 0 153 8 medium out-of-frame . . . . ENSG00000244045.13 ENSG00000173908.9 ENST00000292114.8 . downstream upstream . ^(ACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGG___ATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGG___AACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAG___GATACAAGACATGGTGGGACTCTCAGCGACCTGGGAAAGCAAG___TGAGATCATTGAAGGCTCTGGTCATCACCATCTTCAATTTCATTGTCACGGTGGTTGCTGCCTT)CGTCTGCACTTACCTTGGAAGCCAATATATCTTCACAGAAATGGCCTCG|CTCCTGGTCGGTCCTGCAGAGCGTCAGCTCGTCCAGGACTCGCCGTAATCCGTTGATGTCGGCCTCTACGTTTTGGTGAAGG___AGAGGAGTCCCCCTTCGCTTCCAGCAAAGCCAATACAAGCAGCATTTCCAAGGGCACCACCAGCATGGCTCCCACCAGGAACACTGCCCAAGCCCCCTCCCAAGGCACAGGAAAATTCACTTCCAGCAACAGAGCCACCACATGCACTGCTGCCTGCAAAGCCTGCACCTCCATTGAGGGGTCTGACAGATCCAGCTCCAGACCTTAAGCAAACATGCCTG MASSLLAGERLVRALGPGGELEPERLPRKLRAELEAALGKKHKGGDSSSGPQRLVSFRLIRDLHQHLRERDSKLYLHELLEGSEIYLPEVVKPPRNPELVARLEKIKIQLANEEYKRITRNVTCQDTRHGGTLSDLGKQVRSLKALVITIFNFIVTVVAAFVCTYLGSQYIFTEMAS|llvgpaerqlvqdsp* 09BR005 ENSG00000244045.13 ENSG00000167920.10 +/+ +/+ chr17:28360847 chr17:40833115 CDS/splice-site exon/splice-site deletion 3 0 0 153 394 medium out-of-frame . . . . ENSG00000244045.13 ENSG00000167920.10 ENST00000292114.8 ENST00000668620.1 downstream upstream . ^(ACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGG___ATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGG___AACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATA)AACGGATCACCCGCAACGTCACTTGTCAG___GATACAAGACATGGTGGGACTCTCAGCGACCTGGGAAAGCAAG___TGAGATCATTGAAGGCTCTGGTCATCACCATCTTCAATTTCATTGTCACGGTGGTTGCTGCCTTCGTCTGCACTTACCTTGGAAGCCAATATATCTTCACAGAAATGGCCTCG|ATGGAGCTAACACCCATTATGGAGATTAACCACTTTTCATCAGGTTTTTAACTTAAGTCGTGAG(GAATACAACGGTGAACACAAG___ATTCATTTTATTTTCATCACCATGGGACGTATCCTGTTGTTGAGTTCTCTGGGTCAGACCTCTGAAGACTTCTCAGATGGATCCTAGTCTCTGGGCTTGCCCTGAAATTACTCGCTGCTCAGGGAGAGAGTTGAAATGGTTGGCATCCTCCCACTCTGTTGCTCCGGCTGTGTCCCCTCGCTCTGTTGTTCCAGCTATGTGCCCTCTGTTGCTCCAACTGCAGCTCATTCTGTTAGAGTTCCTCATTCAGCTGGTCACTGTGGCCAGAGGGTGTTGGCCTGCTCCCTTCCTCAAGTATTCTTAAAGCCATGGATTTTTGTGGAGCATTTTTCTTCCTGGCTCTCCCTTGAGTTATTTTCCTTTCTTCGCTATCTTGGGACTCTTCTTTGTGCTTGCGGTCATCGGTTGAGAGAAGGACTTCTTCTTCCTTGTCTCCTTGGTGTTGGCTCGTGGTTGCTCTTCAACAACTGGACTGGAGGCTCTTGGTTTTCTCTTCATCTTCAACAAGTCAGTCTCTCTCAAGGGTCTCACGTTGCAGCATTCTTACCAGAGGCCATTGGGCCTGGAGTTCCAGTTCCAGTGTCTGGAGAGTCCACCTCAGCTCAGCAATCTCATGCCGGTTGGCAATTGTCAGCAGAAGCCGATGCCTGCCCATCAGTTCTTTACTCTGAGGTGTTAGAGTGGAATAAAAATATAAATACTTATACTAGTTTTCATGACTTCTGCTTAATATTGGGTATTTTTTTGTTTTGTTTTGTTTTGGCGGTGATAGGCTTACCTTACATTAAACCAGGCCTTAGCCTTTCTGTGGCTTTGTTATGGCAAAGCCTCATATTACTCTCTAGTCTGGTTCAGCAGGACAGTCAGGTCCACACCTGGGGCTGTTTGTTTTCTACGTTTACCTCAACATAAGGTACCTTATCATTGTCAGCCTTCATCTCCTGATCCAAAATAAAATAAAATGCCACAGGTTACTTGATTTTGCATCTGGAATATGATTATTTAAAGAAATTAAAAATTTAAAACTGAAAATGTAGAGTTTAGAAATCTTTTTTAAGGTTTCAAAAAAATTTCTAGGAGACAACAAAATAGTGTTACTAGATTTAGCAAATAAAATACAGAATGCCAATTAAATTTGAATTTCAAATGAACATTGAATACTTTTTTTGGTATAACTATATTCCATGCAATATTTGGGACATATCTGTTATATTATTCATTGTTTACCTGAAATTATAATTTAAACTGAGAGTTCTGTATTTTATCTGGCAACCTTATTATGAAAATATTTAGGATCAATATAAAGGAATAATATTTTTAATTTTTACAAACTATTTTAATATAAGTAATTTATTTGATTTTCATTGTCATCCTGAGAGTTAAGTTTTGCCTTACAGTCTATGTTACTTTACCTGTGTTTTATGAAAAGACTGTCTCTTATAATGATAGCCACCACCACCATATCTTGACAAGTATTGACATACTGAAACTTTAAATTCATTTTGTGTAGTTCCCGCCTCTTCATGATTGTTTCTGAGGTAATTCAGCTTCTCCGTCTGGCTTTCCATTTTCAACTCTAGGTTAGTCTTGTTCAAAGTCAACTCATCTAAGACACTTCGCAGGCCCTTGCTATCAGCCTCAACACAGTGATAAAGGACAACTTTACTCTGGCATCTGAACAGAGCCCAATTGGAAGAATCAATACAGCTTAGATGGAGGTCTCCTCATCCAGTGGTAATAAAACATCCCACATAGTGGAGCTTAGAGAGCACAGCACTGGGATGTGAAGACATGGGTTCAAATTGCACCTCTGCCATGTTCAGCTGTCACCTTGGGCAAATTACTTCTCTGAACCTTAGTTTTCTCATCATTAAAATGGGAATAT)$ MASSLLAGERLVRALGPGGELEPERLPRKLRAELEAALGKKHKGGDSSSGPQRLVSFRLIRDLHQHLRERDSKLYLHELLEGSEIYLPEVVKPPRNPELVARLEKIKIQLANEEYKRITRNVTCQDTRHGGTLSDLGKQVRSLKALVITIFNFIVTVVAAFVCTYLGSQYIFTEMAS|meltpimeinhfssgf* 09BR005 ENSG00000104881.16 ENSG00000216588.9 -/- +/+ chr19:45393773 chr19:44626298 intron intron inversion 1 1 1 18 10 medium out-of-frame . . . . ENSG00000104881.16 ENSG00000216588.9 ENST00000418234.6 . upstream upstream . ^(CTTCCTAAGCCTTAAAGAGACAGGACGGTCGATTGGTCTGAAATTCTTGAAGAGACAG___GCGCCCGCTCCGGCCGGCACCATGGACAGCGAGGCATTCCAGAGCGCGCGGGACTTTCTGGACATGAACTTCCAGT___CGCTGGCCATGAAACACATGGATCTGAAGCAGATGGAGCTGGACACGGCGGCGGCCAAGGTGGATGAACTGACCAAGCAGCTGGAGTCGCTGTGGTCAGACTCTCCCGCGCCTCCTGGCCCGCAGGCCGGACCCCCTTCTAGG___CCGCCCCGGTACAGCTCCAGCTCGATCCCTGAGCCCTTCGGCAGCCGAGGGTCCCCCCGGAAGGCGGCCACCGACGGCGCAGACACCCCGTTCGGACGATCAGAGAGTGCCCCAACCCTACACCCCTACAGCCCGCTGTCCCCCAAGGGACGGCCGTCGTCGCCGCGCACCCCGCTCTACCTGCAGCCGGACGCCTACGGCAGCCTGGACCGCGCGACCTCGCCCCGGCCCCGCGCCTTCGATGGCGCAGGCAGCTCCCTCGGCCGTGCGCCCTCCCCGCGGCCCGGGCCAGGCCCGCTCCGCCAGCAGGGTCCCCCCACGCCTTTCGACTTCCTGGGCCGCGCAGGCTCCCCCCGCGGCAGCCCCCTGGCGGAGGGGCCCCAGGCCTTCTTCCCCGAGCGTGGGCCGTCACCGCGCCCCCCTGCCACAGCCTACGACGCGCCAGCGTCCGCCTTCGGGAGCTCCCTGCTAGGCTCCGGCGGCAGCGCATTCGCCCCGCCTCTGCGCGCGCAAG___ACGACCTGACGCTGCGCCGGCGGCCTCCGAAAGCCTGGAACGAGTCTGACCTGGACGTGGCGTACGAGAAGAAGCCTTCGCAGACAGCGAGCTATGAAC___GCCTGGACGTCTTCGCAAGGCCTGCCTCGCCGAGCCTGCAGCTGTTGCCTTGGAGGGAGAGCAGCCTGGATGGACTGGGGGGCACCGGCAAG___GACAACCTCACTAGCGCCACCCTGCCGCGCAATTACAAGGTCTCTCCTCTGGCCAGCGACCGGCGTTCAGACGCGGGCAGCTACCGGCGCTCGCTGGGCTCCGCGGGGCCGTCGGGCACTTTGCCTCGCAGCTGGCAGCCCGTCAGCCGCATCCCCATGCCCCCCTCCAGCCCCCAGCCCCGCGGGGCCCCGCGCCAGCGTCCCATCCCCCTCAGCATGATCTTCAAGCTGCAGAACGCCTTCTGGGAGCACGGGGCCAGCCGCGCCATGCTCCCTGGGTCCCCCCTCTTCACCCGAGCACCCCCGCCTAAGCTGCAGCCCCAACCACAACCACAGCCCCAGCCACAATCACAACCACAGCCCCAGCTGCCCCCACAGCCCCAGACCCAACCCCAAACCCCTACCCCAGCCCCCCAG)CATCCCCAACAGACATGGCCCCCTGTGAACGAAG___GTTGGAGTGCAGTGGTGCTTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA|ATCTTATATCACCTAGTGACCCTGATATTCAGTGAGAAGGACAATACTTCCAAGACCTCCTTTGCTCATTCATCAACTGCCCAGGAAATGTTTATGAGCACTTGCTGTGTGGCCAGCCCACACAGCTGGGAACACTCTGGTGACCAAGACAGCTGCAGCC MDSEAFQSARDFLDMNFQSLAMKHMDLKQMELDTAAAKVDELTKQLESLWSDSPAPPGPQAGPPSRPPRYSSSSIPEPFGSRGSPRKAATDGADTPFGRSESAPTLHPYSPLSPKGRPSSPRTPLYLQPDAYGSLDRATSPRPRAFDGAGSSLGRAPSPRPGPGPLRQQGPPTPFDFLGRAGSPRGSPLAEGPQAFFPERGPSPRPPATAYDAPASAFGSSLLGSGGSAFAPPLRAQDDLTLRRRPPKAWNESDLDVAYEKKPSQTASYERLDVFARPASPSLQLLPWRESSLDGLGGTGKDNLTSATLPRNYKVSPLASDRRSDAGSYRRSLGSAGPSGTLPRSWQPVSRIPMPPSSPQPRGAPRQRPIPLSMIFKLQNAFWEHGASRAMLPGSPLFTRAPPPKLQPQPQPQPQPQSQPQPQLPPQPQTQPQTPTPAPQHPQQTWPPVNEgwsavvlahcklrlpgsrhspas|ilyhlvtlifsekdntsktsfahsstaqemfmstccvasphswehsgdqdscs 09BR005 ENSG00000138430.16 ENSG00000152256.14(62126),ENSG00000230104.1(3417) -/- ./+ chr2:174223033 chr2:172670795 CDS/splice-site intergenic inversion 0 3 0 675 17 medium out-of-frame . 50S_ribosome-binding_GTPase(100%)| . . ENSG00000138430.16 . ENST00000284719.8 . upstream upstream . ^(CTTCCTCCCCGCCTCCAGCTGCCGGCAGGACCTTTCTCTCGCTGCCGCTGGGACCCCGTGTCATCGCCCAGGCCGAGCACG___ATGCCCCCTAAAAAGGGAGGTGATGGAATTAAACCACCCCCAATCATTGGAAGATTTGGAACCTCACTGAAAATTGGTATTGTTGGATTGCCAAATGTTGG___GAAATCTACTTTCTTCAATGTGTTAACCAATAGTCAGGCTTCAGCAGAAAACTTCCCGTTCTGCACTATTGATCCTAATGAGAGCAGAGTACCTGTGCCAGATGAAAGGTTTGACTTTCTTTGTCAATACCACAAACCAGCAAG___CAAAATTCCTGCCTTTCTAAATGTGGTGGATATTGCTGGCCTTGTGAAAGGAGCTCACAATGGGCAGGGC)CTGGGGAATGCTTTTTTATCTCATATTAGTGCCTGTGATGGCATCTTTCATCTAACAC|GCTAACCTCTCAAGCTCTTGAAGGTTATAAGAGGGATTGATAGTCCATGATTCAGGTCTTGAGATAAAAGGCACGAACGTCCCTCCCAAG___GGGAAACCATGTTGTGAGAGACCCATGTATGGCT...___CTGTAATGGGTTTTCATCTAGTCTTGGAGATATGAAGTTTCTGGTTCTTCCCCCAAGGCTAGAGGCTTTTGTTCCTTGAGAAAGCATCTAAGGAGG MPPKKGGDGIKPPPIIGRFGTSLKIGIVGLPNVGKSTFFNVLTNSQASAENFPFCTIDPNESRVPVPDERFDFLCQYHKPASKIPAFLNVVDIAGLVKGAHNGQGLGNAFLSHISACDGIFHLT|r* 09BR005 ENSG00000258924.4 ENSG00000173908.9 +/+ -/+ chr17:28360847 chr17:40798292 exon/splice-site CDS deletion/5'-5' 0 3 0 153 8 medium . . . . . ENSG00000258924.4 ENSG00000173908.9 ENST00000591482.1 . downstream upstream . ^(ACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGG___ATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGG___AACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAG___GATACAAGACATGGTGGGACTCTCAGCGACCTGGGAAAGCAAG___TGAGATCATTGAAGGCTCTGGTCATCACCATCTTCAATTTCATTGTCACGGTGGTTGCTGCCTT)CGTCTGCACTTACCTTGGAAGCCAATATATCTTCACAGAAATGGCCTCG|CTCCTGGTCGGTCCTGCAGAGCGTCAGCTCGTCCAGGACTCGCCGTAATCCGTTGATGTCGGCCTCTACGTTTTGGTGAAGG___AGAGGAGTCCCCCTTCGCTTCCAGCAAAGCCAATACAAGCAGCATTTCCAAGGGCACCACCAGCATGGCTCCCACCAGGAACACTGCCCAAGCCCCCTCCCAAGGCACAGGAAAATTCACTTCCAGCAACAGAGCCACCACATGCACTGCTGCCTGCAAAGCCTGCACCTCCATTGAGGGGTCTGACAGATCCAGCTCCAGACCTTAAGCAAACATGCCTG . 09BR005 ENSG00000258924.4 ENSG00000167920.10 +/+ +/+ chr17:28360847 chr17:40833115 exon/splice-site exon/splice-site deletion 3 0 0 153 394 medium . . . . . ENSG00000258924.4 ENSG00000167920.10 ENST00000591482.1 ENST00000668620.1 downstream upstream . ^(ACCTGACCGGAGAGCCGGCTAGATATGGCGTCCTCTTTGCTTGCGGGCGAGCGATTGGTGCGTGCTTTGGGCCCCGGCGGGGAGCTGGAGCCAGAGCGGCTACCCCGAAAGCTGCGGGCCGAGCTTGAGGCCGCGCTGGGGAAGAAGCACAAGGGCGGTGATAGCTCCAGTGGCCCCCAACGCTTGGTTTCTTTCCGTCTCATCCGGGATCTGCACCAGCATCTGAGAGAAAGGG___ATTCCAAACTATACCTCCATGAGCTCCTAGAAGGCAGTGAAATCTATCTCCCAGAGGTTGTGAAGCCTCCACGG___AACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATA)AACGGATCACCCGCAACGTCACTTGTCAG___GATACAAGACATGGTGGGACTCTCAGCGACCTGGGAAAGCAAG___TGAGATCATTGAAGGCTCTGGTCATCACCATCTTCAATTTCATTGTCACGGTGGTTGCTGCCTTCGTCTGCACTTACCTTGGAAGCCAATATATCTTCACAGAAATGGCCTCG|ATGGAGCTAACACCCATTATGGAGATTAACCACTTTTCATCAGGTTTTTAACTTAAGTCGTGAG(GAATACAACGGTGAACACAAG___ATTCATTTTATTTTCATCACCATGGGACGTATCCTGTTGTTGAGTTCTCTGGGTCAGACCTCTGAAGACTTCTCAGATGGATCCTAGTCTCTGGGCTTGCCCTGAAATTACTCGCTGCTCAGGGAGAGAGTTGAAATGGTTGGCATCCTCCCACTCTGTTGCTCCGGCTGTGTCCCCTCGCTCTGTTGTTCCAGCTATGTGCCCTCTGTTGCTCCAACTGCAGCTCATTCTGTTAGAGTTCCTCATTCAGCTGGTCACTGTGGCCAGAGGGTGTTGGCCTGCTCCCTTCCTCAAGTATTCTTAAAGCCATGGATTTTTGTGGAGCATTTTTCTTCCTGGCTCTCCCTTGAGTTATTTTCCTTTCTTCGCTATCTTGGGACTCTTCTTTGTGCTTGCGGTCATCGGTTGAGAGAAGGACTTCTTCTTCCTTGTCTCCTTGGTGTTGGCTCGTGGTTGCTCTTCAACAACTGGACTGGAGGCTCTTGGTTTTCTCTTCATCTTCAACAAGTCAGTCTCTCTCAAGGGTCTCACGTTGCAGCATTCTTACCAGAGGCCATTGGGCCTGGAGTTCCAGTTCCAGTGTCTGGAGAGTCCACCTCAGCTCAGCAATCTCATGCCGGTTGGCAATTGTCAGCAGAAGCCGATGCCTGCCCATCAGTTCTTTACTCTGAGGTGTTAGAGTGGAATAAAAATATAAATACTTATACTAGTTTTCATGACTTCTGCTTAATATTGGGTATTTTTTTGTTTTGTTTTGTTTTGGCGGTGATAGGCTTACCTTACATTAAACCAGGCCTTAGCCTTTCTGTGGCTTTGTTATGGCAAAGCCTCATATTACTCTCTAGTCTGGTTCAGCAGGACAGTCAGGTCCACACCTGGGGCTGTTTGTTTTCTACGTTTACCTCAACATAAGGTACCTTATCATTGTCAGCCTTCATCTCCTGATCCAAAATAAAATAAAATGCCACAGGTTACTTGATTTTGCATCTGGAATATGATTATTTAAAGAAATTAAAAATTTAAAACTGAAAATGTAGAGTTTAGAAATCTTTTTTAAGGTTTCAAAAAAATTTCTAGGAGACAACAAAATAGTGTTACTAGATTTAGCAAATAAAATACAGAATGCCAATTAAATTTGAATTTCAAATGAACATTGAATACTTTTTTTGGTATAACTATATTCCATGCAATATTTGGGACATATCTGTTATATTATTCATTGTTTACCTGAAATTATAATTTAAACTGAGAGTTCTGTATTTTATCTGGCAACCTTATTATGAAAATATTTAGGATCAATATAAAGGAATAATATTTTTAATTTTTACAAACTATTTTAATATAAGTAATTTATTTGATTTTCATTGTCATCCTGAGAGTTAAGTTTTGCCTTACAGTCTATGTTACTTTACCTGTGTTTTATGAAAAGACTGTCTCTTATAATGATAGCCACCACCACCATATCTTGACAAGTATTGACATACTGAAACTTTAAATTCATTTTGTGTAGTTCCCGCCTCTTCATGATTGTTTCTGAGGTAATTCAGCTTCTCCGTCTGGCTTTCCATTTTCAACTCTAGGTTAGTCTTGTTCAAAGTCAACTCATCTAAGACACTTCGCAGGCCCTTGCTATCAGCCTCAACACAGTGATAAAGGACAACTTTACTCTGGCATCTGAACAGAGCCCAATTGGAAGAATCAATACAGCTTAGATGGAGGTCTCCTCATCCAGTGGTAATAAAACATCCCACATAGTGGAGCTTAGAGAGCACAGCACTGGGATGTGAAGACATGGGTTCAAATTGCACCTCTGCCATGTTCAGCTGTCACCTTGGGCAAATTACTTCTCTGAACCTTAGTTTTCTCATCATTAAAATGGGAATAT)$ . 09BR005 ENSG00000226471.6 ENSG00000255127.3 +/+ +/+ chr22:28822179 chr11:92914912 exon/splice-site exon/splice-site translocation 0 2 0 9 3 medium . . . . . ENSG00000226471.6 ENSG00000255127.3 ENST00000458080.1 ENST00000528208.2 downstream upstream . ^(GTTTCAGGACCGTGGCTATGGAGTCCGGCGTGGCAGCGGCAATCCCTGGCCAAAG___TGTGCCTTCAGCCAAAAGCAGAACTGGAAACATCCTAAGTGGGCCGGTAACGAGGCTAGCTCTGTCGACTAGTTCAAGACCCCTGAGCGCTTTGGGCCTGAGGTTCCTCAGCTTCCAAGTGAAAGGCTTCGACTTGGCATTCTAAG)AGACtATCTCTGTGACCATCAGTTTCCTCATCTGTAAAACTGGCATCATGATAACTTTGAAG|GTGGGCGAGGGCTCCTTCAAGTATGCCTGGGTGTTGGACAAGCTGAGGGCAGAAAGAGAACGCAGGATCACCATTGATATCTCCCTGTGGAAGTTCAAGACTAGCACATACTgCAGCATTATCATCGATGCTCCAGGCCACAGAGACTTCATCATGACCATGATCAGGGGCACTTCCCAG___GCCGACTGCGCGGTGCTCTTCGTGGCAGGCGGCTGGGCGGAGGCCGGCATCTTCAAGAACCCGaAG(ACCCACGAGCTCGCGCTGCTGGCCAACTGGCGGGACGTCACGCAGCTCATCGTGATCTTCAACGAAATTGACTCCACCGAGCCCGCCTACAGCGGCTCGCGCCTCCAGGTGATCACCAAGGAAGTAAGCGCCTGCATCAAGAAGATCGGCTACAACTGGCTGCCTGGCCTTCAGTCCATCTCGAGCTGGCACGGCGACAGCATGCTGGAGCCCAGCACTGAC___ATGCCCTGGTTCAAGTGCTGGAAGGTAGAGTGGAAGGAGGGGAACGCCATGGGGGTGACTCTGCTGGAAGCTTTGAACTCCATCCTCCCAACAACGCGCAGGGTCGACAATCCCCTGAGGCTGCCCCTGCAAGATGTGTACAAGATGGGAG___GCATTGGCAGTGTGCCAGTGGGCCGTGTGGAGGGTGGCTTTTTCAAATTCGGGATAGTGGTCACATTTGCCCCCAGCAATGTCACCACTAAGGTTAAATCTGTGGAGATGCACCATGAGGTCCTGGCGGAAGCCCTGTGGTTAACAATGTAGGATTCCATGTGAAG)$ . 09BR005 ENSG00000141027.21 ENSG00000267023.5 -/- -/- chr17:16146376 chr17:68130322 CDS/splice-site exon/splice-site duplication 0 2 0 54 8 medium out-of-frame . G-protein_pathway_suppressor_2-interacting_domain(100%)| . . ENSG00000141027.21 ENSG00000267023.5 ENST00000268712.8 ENST00000586022.5 upstream downstream . ^(GAGTCAAGATGGCGGCCAAGGTGGCGAAGCAGCAGCCGCGGCGGCGGCGGCGGCTGGAGTGAGCGTCCGACTCGCCGCGCCGAACGAGGTCCCGGTGTAGGGCCGCGCGCCGTGGCCGCGTCCCACTCCTCAGGCCGGGGCGCACGTCGGCTCCCACGCTTAGCCAGCTCCCG___GTGGTTTCCTAGAAACATGATTGTTTATTGGCATTGATCTCACAGTCTGGTGAGGACTTCTTTACTGATAATGTCAAGTTCAGGTTATCCTCCCAACCAAGGAGCATTCAGCACAGAACAAAGTCGTTATCCTCCTCACTCTGTCCAGTATACATTTCCCAACACCCGCCACCAGCAG___GAGTTCGCAGTCCCTGATTATCGTTCCTCTCATCTTGAAGTGAGTCAGGCATCACAGCTTTTGCAGCAACAGCAGCAGCAACAGCTTCGAAGGCGACCTTCCTTGCTTTCAGAATTTCACCCAGGTTCTGACAG___GCCTCAAGAAAGGAGAACTAGTTATGAACCGTTTCATCCAGGCCCATCCCCAGTGGATCATGATTCACTGGAATCGAAGCGACCACGTCTGGAACAGGTTTCTGATTCTCATTTTCAGCGTGTCAGTGCTGCGGTTTTGCCTTTAGTGCACCCGCTGCCAGAAGGGCTGAGGGCTTCTGCAGATGCTAAGAAG___GATCCAGCATTCGGAGGCAAACATGAAGCTCCATCCTCTCCAATTTCGGGGCAACCATGTGGAGATGATCAAAATGCTTCACCTTCAAAACTCTCAAAGGAAGAGTTAATACAGAGTATGGATCGTGTAGATCGAGAAATTGCAAAAGTAGAACAGCAGATCCTTAAACTGAAAAAGAAACAA___CAACAGCTTGAAGAAGAGGCAGCTAAACCTCCTGAGCCTGAGAAGCCCGTGTCCCCTCCTCCTGTGGAGCAGAAACACCGCAGTATTGTCCAAATTATTTATGATGAGAATCGG___AAAAAAGCAGAAGAAGCTCATAAAATTTTTGAAGGTCTTGGCCCAAAAGTTGAACTG___CCACTGTATAACCAGCCATCAGATACCAAGGTGTACCATGAGAACATCAAGAC___AAACCAGGTGATGAGGAAAAAACTCATTTTATTTTTTAAAAGAAGAAATCATGCAAGAAAACAAAGG___GAACAAAAAATCTGCCAGCGTTATGATCAGCTCATGGAGGCATGGGAGAAAAAAGTGGACAGAATAGAAAATAATCCTCGGAGGAAAGCTAAAGAAAGCAAAACAA)GGGAATACTATGAAAAGCAGTTTCCAGAAATTCGAAAACAAAGAGAACAGCAAGAAAGATTTCAGCG|GATCTTACCTAGCCATATGGCCTGCTGCCTCTGCCAATTTAAAAATAGCATTGAGGCTGTCTGCAAGACAGTCAAGCTGCATTGCAAC(AGTGCATGTCTGACAAACACCACACATTGTCGTGAGTCCAAATTGCCTGGTGATAAATTGTTACATTATTTTAAGTATTTG___TGCCGTTCCATTATCTTTCATGATCAAAGCAGTCTCTTTTTTTTGACAGGTGAAGAAGCATCTGTAGGGAATCCAGAAAGAGTGTTCATGAAGGTGTTACAAGCCCAGAAGAAGCACATGAGCATTGAGCTGACTACTGAGCCGGAGGCAGCCTCAGACAGCAGTGGCATCAACTTGTCAGTCTTTGGGAGTGAGCAGCTAGACACTTATGATAAGAGTGATGTTATCACTGCGCTAAATTACATCTTGCCTTATTTCTCAGCAGGAAATCTAGATGCGGAATCAATGTTGTTACCATTCATTAAACTG___AACAGCCTGGCAAAGGTTCAAAGTGTAGGCAAAAACCTGCAGAGAGTGAACAGAGTCCTCATGGGCCCAAGGAGCATCCAGAAAAGGCCCTTCAAAGCGGTGGGAAAGCAGAGTATCAGGAGGGAACAGGGTGCCCAGGCATTTGGGGAGAATGCTGCCAAAGAAAAAAGGCTCGGGAGTCCAGCCCCAAGGGAGCTGGAATAGCCTCACATAGTGCAGGGGCCCGAGAACGTAGCGGGAAACGCCGTCTACACCAAGCCTTCATTCACCCAAGAGCAGAAGCCAACAGTCTCCTCTTTGCTGAAACCCTTCTCCATGGGCATGCCTTCTGCCTTCCACAACTGCAAAAGC___AGGCTAGAGTTAAAAAATATGAAGGCTGCTAAACGAGTAGTACATTCCAGAAAAAAATACCACTTTCATAAAACTCACTCCCGTGTGGCCCACAGAACACCCAAGGCCAAAAAGATTAGAAAATTGAGAAAGAAAAGTTATCTCAATAGACTGATGCTCGCAAAGAGGCCGCCGTTCTCTGCAGTGAAGAGCCTCATAAATTCCCCTTCACAAGGGGCTTTTTCATCCTCAGGAGACCTGAGTCCTCAAGAAAACCCTTTTCCAGAAGTATTTGCTCCTTCAGAATGTTTTATAGAAAACACTACTGTAAAAAACACAACTGCAAGAAATGCCTCTGAAGAAAACGTTTTTATGGAAAACACTACTATGCCAGAAGGCACCATCTCTGAAAACACAAACTACAATCATCTTCCTGAGGCAGATTCCCACTAGGACTGCATTCAACTTAGAGCCAACTGTTAAACAAACTGAGACAAAATGGGAATACAACAACGTGGGCACTGACCTGTCCCCCGAGCCCAAAAGCTTCAGTTACCCATTGCTCTCATCCCCAGGTGATCAGTTTGAAATTCCGCTAACCCATCAACTACAGTCCGTCATCCCCAACAACGATGTGAGAAGCTTCATTTCTCATGTTATCTGGACCTTGAAGACGGACTGCTCCGAGACCTATGTGCAAGTGACCTGTGCCAAGCTCATCTCCAGGACAGGCCTCCTGATGAGGCTTCTCAGTGAGCAGCAGGAAGTAAAGGCGTCCAAGGCAGAATGGGATACAGACCAGTGGAAAACTAAGAACTATATTAATGAAAGCACAGAAGCCCAGAGTGAACAGAAAGAGCAGAAGTCGAGTGAG___ACGAAAGAAGTTCCAGGATATGGCTATAACAACAAACTAATCTTGGTGATATCTGTGACTGTAATACTAACGATTTTGATTCTAATTTTTTGTCTTATTGAGGTA)$ MSSSGYPPNQGAFSTEQSRYPPHSVQYTFPNTRHQQEFAVPDYRSSHLEVSQASQLLQQQQQQQLRRRPSLLSEFHPGSDRPQERRTSYEPFHPGPSPVDHDSLESKRPRLEQVSDSHFQRVSAAVLPLVHPLPEGLRASADAKKDPAFGGKHEAPSSPISGQPCGDDQNASPSKLSKEELIQSMDRVDREIAKVEQQILKLKKKQQQLEEEAAKPPEPEKPVSPPPVEQKHRSIVQIIYDENRKKAEEAHKIFEGLGPKVELPLYNQPSDTKVYHENIKTNQVMRKKLILFFKRRNHARKQREQKICQRYDQLMEAWEKKVDRIENNPRRKAKESKTREYYEKQFPEIRKQREQQERFQr|ilpshmacclcqfknsieavcktvklhcnsacltntthcresklpgdkllhyfkylcrsiifhdqsslffltgeeasvgnpervfmkvlqaqkkhmsielttepeaasdssginlsvfgseqldtydksdvitalnyilpyfsagnldaesmllpfiklnslakvqsvgknlqrvnrvlmgprsiqkrpfkavgkqsirreqgaqafgenaakekrlgspaprele* 09BR005 ENSG00000159459.12 ENSG00000104047.15(105840),ENSG00000259388.1(32174) -/- ./+ chr15:43036178 chr15:49762072 CDS/splice-site intergenic inversion 2 0 0 46 0 medium out-of-frame . ATP-dependent_Clp_protease_adaptor_protein_ClpS(100%),Putative_zinc_finger_in_N-recognin_(UBR_box)(100%)| . . ENSG00000159459.12 . ENST00000290650.9 . upstream upstream . ^(GTCAGTTTCCCTCAAGATGGCGGACGAGGAGGCTGGAGGTACTGAGAGGATGGAAATCAGCGCGGAGTTACCCCAGACCCCTCAGCGTCTGGCATCT___TGGTGGGATCAGCAAGTTGATTTTTATACTGCTTTCTTGCATCATTTGGCACAATTGGTGCCAGAAATTTACTTTGCTGAAATGGACCCAGACTTGGAAAAGCAGGAGGAAAGTGTACAAATGTCAATATTCACTCCACTGGAATGGTACTTATTTGGAGAAGATCCAGATATTTGCTTAGAGAAATTGAAGCACAGTGGAGCATTTCAGCTTTGTGGGAGGGTTTTCAAAAGTGGAGAGACAACCTATTCTTGCAG___GGATTGTGCAATTGATCCAACATGTGTACTCTGTATGGACTGCTTCCAGGACAGTGTTCATAAAAATCATCGTTACAAG___ATGCATACTTCTACTGGAGGAGGGTTCTGTGACTGTGGAGACACAGAGGCATGGAAAACTGGCCCTTTTTGTGTAAATCATGAACCTGGAAGAGCAGGTACTATAAAAGAG___AATTCACGCTGTCCGTTGAATGAAGAGGTAATTGTCCAAGCCAGGAAAATATTTCCTTCAGTGATAAAATATGTCGTAGAAATGACTATATGGGAAGAGGAAAAAGAACTGCCTCCTGAACTCCAGATAAG___GGAGAAAAATGAAAGATACTATTGTGTCCTTTTCAATGATGAACACCATTCATATGACCACGTCATATACAGCCTACAAAGAGCTCTTGACTGTGAGCTCGCAGAGGCCCAGTTGCATACCACTGCCATTGACAAAGAG___GGTCGTCGGGCTGTTAAAGCGGGAGCTTATGCTGCTTGCCAGGAAGCAAAGGAAGATATAAAG___AGTCATTCAGAAAATGTCTCTCAACATCCACTTCATGTAGAAGTATTACACTCAGAGATTATGGCTCATCAGAAATTTGCTTTGCGTCTTGGTTCCTGGATGAACAAAATTATGAGCTATTCAA___GTGACTTTAGGCAGATCTTTTGCCAAGCATGCCTTAGAGAAGAACCTGACTCGGAGAATCCCTGTCTCATAAGCAGGTTAATGCTTTGGGATGCAAAGCTTTATAAAG___GTGCCCGTAAGATCCTTCATGAATTGATCTTCAGCAGTTTTTTTATGGAGATGGAATACAAAAAACTCTTTGCTATGGAATTTGTGAAG___TATTATAAACAACTGCAGAAAGAATATATCAGTGATGATCATGACAGAAGTATCTCTATAACTGCACTTTCAGTTCAGATGTTTACTGTTCCTACTCTG___GCTCGACATCTTATTGAAGAGCAGAATGTTATCTCTGTCATTACTGAAACTCTGCTAGAAGTTTTACCTGAGTACTTGGACAGGAACAATAAATTCAACTTCCAGGGTTATAGCCAGGACAAATTGGGAAGAGTATATGCAGTAATATGTGACCTAAA___GTATATCCTGATCAGCAAACCCACAATATGGACAGAAAGATTAAGAATGCAGTTCCTTGAAGGTTTTCGATCTTTTTTGAAGATTCTTACCTGTATGCAG___GGAATGGAAGAAATCCGAAGACAGGTTGGGCAACACATTGAAGTGGATCCTGATTGGGAGGCTGCCATTGCTATACAGATGCAATTGAAGAATATTTTACTCATGTTCCAAGAGTGGTGTGCTTGTGAT___GAAGAACTCTTACTTGTGGCTTATAAAGAATGTCACAAAGCTGTGATGAGGTGCAGTACCAGTTTCATATCTAGTAGCAAGACAGTAGTACAATCGTGTGGACATAGTTTGGAAACAAAGTCCTACAGAGTATCTGAGGATCTTGTAAGCATACATCTGCCACTCTCTAGGACCCTTGCTG___GTCTTCATGTACGTTTAAGCAGGCTGGGTGCTGTTTCAAGACTGCATGAATTTGTGTCTTTT___GAGGACTTTCAAGTAGAGGTACTAGTGGAATATCCTTTACGTTGTCTGGTGTTGGTTGCCCAGGTTGTT)GCTGAGATGTGGCGAAGAAATGGACTGTCTCTTATTAGCCAG___GTGTTTTATTACCAAGATGTTAAGTGCAGAGAAGAAATGTATGATAAAGATATCATCATGCTTCAG___ATTGGaGCATgTTTAATGGATCCCAATAAGTTCTTGTTACTGGTACTTCAGAGGTATGAACTTGCCGAGGCTTTTAACAAGACCATATCTACAAAAGACCAG|CCCCAAGCAAACACCATTCAACGTTCTTTACTTATCAATTTGACTACTTTAGATACCTCAT___CTGCAGTGCATAC MADEEAGGTERMEISAELPQTPQRLASWWDQQVDFYTAFLHHLAQLVPEIYFAEMDPDLEKQEESVQMSIFTPLEWYLFGEDPDICLEKLKHSGAFQLCGRVFKSGETTYSCRDCAIDPTCVLCMDCFQDSVHKNHRYKMHTSTGGGFCDCGDTEAWKTGPFCVNHEPGRAGTIKENSRCPLNEEVIVQARKIFPSVIKYVVEMTIWEEEKELPPELQIREKNERYYCVLFNDEHHSYDHVIYSLQRALDCELAEAQLHTTAIDKEGRRAVKAGAYAACQEAKEDIKSHSENVSQHPLHVEVLHSEIMAHQKFALRLGSWMNKIMSYSSDFRQIFCQACLREEPDSENPCLISRLMLWDAKLYKGARKILHELIFSSFFMEMEYKKLFAMEFVKYYKQLQKEYISDDHDRSISITALSVQMFTVPTLARHLIEEQNVISVITETLLEVLPEYLDRNNKFNFQGYSQDKLGRVYAVICDLKYILISKPTIWTERLRMQFLEGFRSFLKILTCMQGMEEIRRQVGQHIEVDPDWEAAIAIQMQLKNILLMFQEWCACDEELLLVAYKECHKAVMRCSTSFISSSKTVVQSCGHSLETKSYRVSEDLVSIHLPLSRTLAGLHVRLSRLGAVSRLHEFVSFEDFQVEVLVEYPLRCLVLVAQVVAEMWRRNGLSLISQVFYYQDVKCREEMYDKDIIMLQIGAcLMDPNKFLLLVLQRYELAEAFNKTISTKDQ|pqantiqrsllinlttldtssavh 09BR005 ENSG00000159459.12 ENSG00000259388.1(34820),ENSG00000104043.15(27321) -/- ./+ chr15:43036178 chr15:49830917 CDS/splice-site intergenic inversion 0 2 0 46 7 medium out-of-frame . ATP-dependent_Clp_protease_adaptor_protein_ClpS(100%),Putative_zinc_finger_in_N-recognin_(UBR_box)(100%)| . . ENSG00000159459.12 . ENST00000290650.9 . upstream upstream . ^(GTCAGTTTCCCTCAAGATGGCGGACGAGGAGGCTGGAGGTACTGAGAGGATGGAAATCAGCGCGGAGTTACCCCAGACCCCTCAGCGTCTGGCATCT___TGGTGGGATCAGCAAGTTGATTTTTATACTGCTTTCTTGCATCATTTGGCACAATTGGTGCCAGAAATTTACTTTGCTGAAATGGACCCAGACTTGGAAAAGCAGGAGGAAAGTGTACAAATGTCAATATTCACTCCACTGGAATGGTACTTATTTGGAGAAGATCCAGATATTTGCTTAGAGAAATTGAAGCACAGTGGAGCATTTCAGCTTTGTGGGAGGGTTTTCAAAAGTGGAGAGACAACCTATTCTTGCAG___GGATTGTGCAATTGATCCAACATGTGTACTCTGTATGGACTGCTTCCAGGACAGTGTTCATAAAAATCATCGTTACAAG___ATGCATACTTCTACTGGAGGAGGGTTCTGTGACTGTGGAGACACAGAGGCATGGAAAACTGGCCCTTTTTGTGTAAATCATGAACCTGGAAGAGCAGGTACTATAAAAGAG___AATTCACGCTGTCCGTTGAATGAAGAGGTAATTGTCCAAGCCAGGAAAATATTTCCTTCAGTGATAAAATATGTCGTAGAAATGACTATATGGGAAGAGGAAAAAGAACTGCCTCCTGAACTCCAGATAAG___GGAGAAAAATGAAAGATACTATTGTGTCCTTTTCAATGATGAACACCATTCATATGACCACGTCATATACAGCCTACAAAGAGCTCTTGACTGTGAGCTCGCAGAGGCCCAGTTGCATACCACTGCCATTGACAAAGAG___GGTCGTCGGGCTGTTAAAGCGGGAGCTTATGCTGCTTGCCAGGAAGCAAAGGAAGATATAAAG___AGTCATTCAGAAAATGTCTCTCAACATCCACTTCATGTAGAAGTATTACACTCAGAGATTATGGCTCATCAGAAATTTGCTTTGCGTCTTGGTTCCTGGATGAACAAAATTATGAGCTATTCAA___GTGACTTTAGGCAGATCTTTTGCCAAGCATGCCTTAGAGAAGAACCTGACTCGGAGAATCCCTGTCTCATAAGCAGGTTAATGCTTTGGGATGCAAAGCTTTATAAAG___GTGCCCGTAAGATCCTTCATGAATTGATCTTCAGCAGTTTTTTTATGGAGATGGAATACAAAAAACTCTTTGCTATGGAATTTGTGAAG___TATTATAAACAACTGCAGAAAGAATATATCAGTGATGATCATGACAGAAGTATCTCTATAACTGCACTTTCAGTTCAGATGTTTACTGTTCCTACTCTG___GCTCGACATCTTATTGAAGAGCAGAATGTTATCTCTGTCATTACTGAAACTCTGCTAGAAGTTTTACCTGAGTACTTGGACAGGAACAATAAATTCAACTTCCAGGGTTATAGCCAGGACAAATTGGGAAGAGTATATGCAGTAATATGTGACCTAAA___GTATATCCTGATCAGCAAACCCACAATATGGACAGAAAGATTAAGAATGCAGTTCCTTGAAGGTTTTCGATCTTTTTTGAAGATTCTTACCTGTATGCAG___GGAATGGAAGAAATCCGAAGACAGGTTGGGCAACACATTGAAGTGGATCCTGATTGGGAGGCTGCCATTGCTATACAGATGCAATTGAAGAATATTTTACTCATGTTCCAAGAGTGGTGTGCTTGTGAT___GAAGAACTCTTACTTGTGGCTTATAAAGAATGTCACAAAGCTGTGATGAGGTGCAGTACCAGTTTCATATCTAGTAGCAAGACAGTAGTACAATCGTGTGGACATAGTTTGGAAACAAAGTCCTACAGAGTATCTGAGGATCTTGTAAGCATACATCTGCCACTCTCTAGGACCCTTGCTG___GTCTTCATGTACGTTTAAGCAGGCTGGGTGCTGTTTCAAGACTGCATGAATTTGTGTCTTTT___GAGGACTTTCAAGTAGAGGTACTAGTGGAATATCCTTTACGTTGTCTGGTGTTGGTTGCCCAGGTTGTTGCTGAGATGTGGCGAAGAAATGGACTGTCTCTTATTAGCCAG___GTGTTTTATTACCAAGATGTTAAGTGCAGAGAAGAAATGTATGATAAAGATATCATCATGCTTCAG___ATTGGTGCATCTTTAATGGATCCCAATAAGTTCTTGTTACTGGTAC)TTCAGAGGTATGAACTTGCCGAGGCTTTTAACAAGACCATATCTACAAAAGACCAG|ATGGAGAAGCCAAAGCTCAGAAAGTTTAAGAAACCTTCTCCAAGATACAGAGTAAGTAGCAGAGGTAGAATTTTAACTCAGGTGAGTCTATTTCTGGGAACCAACAGCTTAACCCTAATGTTATTTTATCTGTAAAGCCTTGCATGATATACCCATTCACTATGCCCATATTGGACTTTGAAC MADEEAGGTERMEISAELPQTPQRLASWWDQQVDFYTAFLHHLAQLVPEIYFAEMDPDLEKQEESVQMSIFTPLEWYLFGEDPDICLEKLKHSGAFQLCGRVFKSGETTYSCRDCAIDPTCVLCMDCFQDSVHKNHRYKMHTSTGGGFCDCGDTEAWKTGPFCVNHEPGRAGTIKENSRCPLNEEVIVQARKIFPSVIKYVVEMTIWEEEKELPPELQIREKNERYYCVLFNDEHHSYDHVIYSLQRALDCELAEAQLHTTAIDKEGRRAVKAGAYAACQEAKEDIKSHSENVSQHPLHVEVLHSEIMAHQKFALRLGSWMNKIMSYSSDFRQIFCQACLREEPDSENPCLISRLMLWDAKLYKGARKILHELIFSSFFMEMEYKKLFAMEFVKYYKQLQKEYISDDHDRSISITALSVQMFTVPTLARHLIEEQNVISVITETLLEVLPEYLDRNNKFNFQGYSQDKLGRVYAVICDLKYILISKPTIWTERLRMQFLEGFRSFLKILTCMQGMEEIRRQVGQHIEVDPDWEAAIAIQMQLKNILLMFQEWCACDEELLLVAYKECHKAVMRCSTSFISSSKTVVQSCGHSLETKSYRVSEDLVSIHLPLSRTLAGLHVRLSRLGAVSRLHEFVSFEDFQVEVLVEYPLRCLVLVAQVVAEMWRRNGLSLISQVFYYQDVKCREEMYDKDIIMLQIGASLMDPNKFLLLVLQRYELAEAFNKTISTKDQ|mekpklrkfkkpspryrvssrgriltqvslflgtnsltlmlfyl* 09BR005 ENSG00000183778.17 ENSG00000185437.13 +/+ +/+ chr21:39646622 chr21:39508998 5'UTR/splice-site CDS/splice-site duplication 1 1 0 20 17 medium . . . . . ENSG00000183778.17 ENSG00000185437.13 ENST00000380620.8 ENST00000380637.7 downstream upstream . ^(ACAGGAAAGCCGCTGGTTGTGATGGTGGCTATGACAAACCTTCAGCCTGAAGACCCGGGAGGGAAAAAT___GAAGCTGACAAGAAGCACGTTGCTGAGTGATCCTGGGTTCCCATCCTCCGCACCCGTGCATCCACGCGTGGGCCCAGCCAGCAAGGAGAAGTCTAACAGGCAGGAGGAGGGGAGACACAAGGAGCCCCCGCA___TTTCATCTGGAAGAGAGGCCATTGAAACCAAGCATTTGTGTTCAAGTAAGAAAATGTATCCAAGTCACAAAGAA)ACATAATTTGGCTTTTGGAGACATGAGCAGCTTCATTTCTCATTTGTTCATTCGAAAGTCTCCACTGGGCTTCTGAGTGCCACATCCTGTCCAGAATGATGAAAGATACAGAAAATGGTGCCTGCTGACCTTCTGGAGTTATTGGCTAGTAAGAAAG|GAAGAAGAAGGAGAGACAGCCACAGAAGAG___ACGGAAGAAATAGCCATGGAGGGTGCGGAAGGGGAAGCCGAGGAGGAGGAAGAAACTGCAGAAGGAG(AAGAGCCTGGAGAAGACGAAGATTCCTAGGCCTTTTCATGCTTCATTTCTTCCACTTCTCCAG___AAAATGGAAGCTATGAAGCAACATTTCAAATGTCTCTCCACAAACCAAACTCAACAGAATACTTTGGCTTGAAGCCGGCACACCCAGGGTTACTGAGGACTTATGCTGCCTGACCTGGTTAGATGTACATGGAGGTATCTCCCGAATCATACAAAATTAAATGTGAAGACCGTTTATGCATACCTTCATGTGCCTGACAGTCTTGGCTTTTGAAGATTTTTTTTTCTTTTTTGCTCTGCATAGCTAGACCATCTTATTAATAATACTCTGAAAAAAATGATTTCAAGGCATGGAAGTTCTCTGTGATACAACAATAGTATTTCTTCAAATGCGCCTTATGCTACTTATCTCAGAAACAGGTTTTAAAATGAAGTGCTTTCCAGAGAACCATCATATAAATAAAGATTAATAGAAAAATA)$ . 09BR005 ENSG00000183778.17 ENSG00000285815.1 +/+ +/+ chr21:39646622 chr21:39508998 5'UTR/splice-site CDS/splice-site duplication 1 1 0 20 17 medium . . . . . ENSG00000183778.17 ENSG00000285815.1 ENST00000380620.8 ENST00000647779.1 downstream upstream . ^(ACAGGAAAGCCGCTGGTTGTGATGGTGGCTATGACAAACCTTCAGCCTGAAGACCCGGGAGGGAAAAAT___GAAGCTGACAAGAAGCACGTTGCTGAGTGATCCTGGGTTCCCATCCTCCGCACCCGTGCATCCACGCGTGGGCCCAGCCAGCAAGGAGAAGTCTAACAGGCAGGAGGAGGGGAGACACAAGGAGCCCCCGCA___TTTCATCTGGAAGAGAGGCCATTGAAACCAAGCATTTGTGTTCAAGTAAGAAAATGTATCCAAGTCACAAAGAA)ACATAATTTGGCTTTTGGAGACATGAGCAGCTTCATTTCTCATTTGTTCATTCGAAAGTCTCCACTGGGCTTCTGAGTGCCACATCCTGTCCAGAATGATGAAAGATACAGAAAATGGTGCCTGCTGACCTTCTGGAGTTATTGGCTAGTAAGAAAG|GAAGAAGAAGGAGAGACAGCCACAGAAGAG___ACGGAAGAAATAGCCATGGAGGGTGCGGAAGGGGAAGCCGAGGAGGAGGAAGAAACTGCAGAAGGAG(AAGAGCCTGGAGAAGACGAAGATTCCTAGGCCTTTTCATGCTTCATTTCTTCCACTTCTCCAG___AAAATGGAAGCTATGAAGCAACATTTCAAATGTCTCTCCACAAACCAAACTCAACAGAATACTTTGGCTTGAAGCCGGCACACCCAGGGTTACTGAGGACTTATGCTGCCTGACCTGGTTAGATGTACATGGAGGTATCTCCCGAATCATACAAAATTAAATGTGAAGACCGTTTATGCATACCTTCATGTGCCTGACAGTCTTGGCTTTTGAAGATTTTTTTTTCTTTTTTGCTCTGCATAGCTAGACCATCTTATTAATAATACTCTGAAAAAAATGATTTCAAGGCATGGAAGTTCTCTGTGATACAACAATAGTATTTCTTCAAATGCGCCTTATGCTACTTATCTCAGAAACAGGTTTTAAAATGAAGTGCTTTCCAGAGAACCATCATATAAATAAAGATTAATAGAAAAATA)$ . 09BR007 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 10 17 0 70 53 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCT)GTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 09BR007 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 5 14 0 28 87 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) CTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAG(GGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 09BR007 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 5 0 178 37 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGG)CAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 09BR007 ENSG00000131759.18 ENSG00000133318.14 +/+ +/+ chr17:40331396 chr11:63749991 CDS/splice-site CDS/splice-site translocation 1 2 1 113 159 high in-frame . |Reticulon(100%) . . ENSG00000131759.18 ENSG00000133318.14 ENST00000254066.10 ENST00000356000.7 downstream upstream . ^(GCAGCAGCCTAACCCAGAAGCAGGGGGGAATCCTGAATCGAGCTGAGAGGGCTTCCCCGGTTCTCCTGGGAACCCCATCGGCCCCCTGCCAGCACACACCTGAGCAG___CATCACAGGACATGGCCCCCTCAGCCACCTAGCTGGGGCCCATCTAGGAGTGGCATCTTTTTTGGTGCCCTGAAGGCCAGCTCTGGACCTTCCCAGGAAAAGTGCCAGCTCACAGAACTGCTTGACCAAAGGACCGGCTCTTGAGACATCCCCCAACCCACCTGGCCCCCAGCTAGGGTGGGGGCTCCAGGAGACTGAGATTAGCCTGCCCTCTTTGGACAGCAGCTCCAGGACAGGGCGGGTGGGCTGACCACCCAAACCCCATCTGGGCCCAGGCCCCATGCCCCGAGGAGGGGTGGTCTGAAGCCCACCAGAGCCCCCTGCCAGACTGTCTGCCTCCCTTCTGACTGTGGCCGCTTGGCATGGCCAGCAACAGCAGCTCCTGCC)CGACACCTGGGGGCGGGCACCTCAATGGGTACCCGGTGCCTCCCTACGCCTTCTTCTTCCCCCCTATGCTGGGTGGACTCTCCCCGCCAGGCGCTCTGACCACTCTCCAGCACCAGCTTCCAGTTAGTGGATATAGCACACCATCCCCAGCCA|TGCACGATCTGATTTTCTGGAGAGATGTGAAGAAGACTGGGTTTGTCTTTGGCACCACGCTGATCATGCTGCTTTCCCTGGCAGCTTTCAGTGTCATCAGTGTGGTTTCTTACCTCATCCTGGCTCTTCTCTCTGTCACCATCAGCTTCAGGATCTACAAGTCCGTCATCCAAGCTGTACAGAAGTCAGAAGAAGGCCATCCATTCAA___AGCCTACCTGG(ACGTAGACATTACTCTGTCCTCAGAAGCTTTCCATAATTACATGAATGCTGCCATGGTGCACATCAACAGGGCCCTGAAACTCATTATTCGTCTCTTTCTGGTAGAAGATCTGGTTGACTCCTTGAAG___CTGGCTGTCTTCATGTGGCTGATGACCTATGTTGGTGCTGTTTTTAACGGAATCACCCTTCTAATTCTTG___CTGAACTGCTCATTTTCAGTGTCCCGATTGTCTATGAGAAGTACAAG___ACCCAGATTGATCACTATGTTGGCATCGCCCGAGATCAGACCAAGTCAATTGTTGAAAA___GATCCAAGCAAAACTCCCTGGAATCGCCAAAAAAAAGGCAGAATAAGTACATGGAAACCAGAAATGCAACAGTTACTAAAACACCATTTAATAGTTATAACGTCGTTACTTGTACTATGAAGGAAAATACTCAGTGTCAGCTTGAGCCTGCATTCCAAGCTTTTTTTTTAATTTGGTGTTTTCTCCCATCCTTTCCCTTTAACCCTCAGTATCAAGCACAAAAATTGATGGACTGATAAAAGAACTATCTTAGAACTCAGAAGAAGAAAGAATCAAATTCATAGGATAAGTCAATACCTTAATGGTGGTAGAGCCTTTACCTGTAGCTTGAAAGGGGAAAGATTGGAGGTAAGAGAGAAAATGAAAGAACACCTCTGGGTCCTTCTGTCCAGTTTTCAGCACTAGTCTTACTCAGCTATCCATTATAGTTTTGCCCTTAAGAAGTCATGATTAACTTATGAAAAAATTATTTGGGGACAGGAGTGTGATACCTTCCTTGGTTTTTTTTTGCAGCCCTCAAATCCTATCTTCCTGCCCCACAATGTGAGCAGCTACCCCTGATACTCCTTTTCTTTAATGATTTAACTATCAACTTGATAAATAACTTATAGGTGATAGTGATAATTCCTGATTCCAAGAATGCCATCTGATAAAAAAGAATAGAAATGGAAAGTGGGACTGAGAGGGAGTCAGCAGGCATGCTGCGGTGGCGGTCACTCCCTCTGCCACTATCCCCAGGGAAGGAAAGGCTCCGCCATTTGGGAAAGTGGTTTCTACGTCACTGGACACCGGTTCTGAGCATTAGTTTGAGAACTCGTTCCCGAATGTGCTTTCCTCCCTCTCCCCTGCCCACCTCAAGTTTAATAAATAAGGTTGTACTTTTCTTACTATAAAATAAATGTCTGTAACTGCTGTGCACTGCTGTAAACTTGTTAGAGAAAAAAATAACCTGCATGTGGGCTCCTCAGTTATTGAGTTTTTGTGATCCTATCTCAGTCTGGGGGGGAACATTCTCAAGAGGTGAAATACAGAAAGCCTTTTTTTCTTGATCTTTTCCCGAGATTCAAATCTCCGATTCCCATTTGGGGGCAAGTTTTTTTCTTCACCTTCAATATGAGAATTCAGCGAACTTGAAAGAAAAATCATCTGTGAGTTCCTTCAGGTTCTCACTCATAGTCATGATCCTTCAGAGGGAATATGCACTGGCGAGTTTAAAGTAAGGGCTATGATATTTGATGGTCCCAAAGTACGGCAGCTGCAAAAAGTAGTGGAAGGAAATTGTCTACGTGTCTTGGAAAAATTAGTTAGGAATTTGGATGGGTAAAAGGTACCCTTGCCTTACTCCATCTTATTTTCTTAGCCCCCTTTGAGTGTTTTAACTGGTTTCATGTCCTAGTAGGAAGTGCATTCTCCATCCTCATCCTCTGCCCTCCCAGGAAGTCAGTGATTGTCTTTTTGGGCTTCCCCTCCAAAGGACCTTCTGCAGTGGAAGTGCCACATCCAGTTCTTTTCTTTTGTTGCTGCTGTGTTTAGATAATTGAAGAGATCTTTGTGCCACACAGGATTTTTTTTTTTTTTTAAGAAAAACCTATAGATGAAAAATTACTAATGAAACTGTGTGTACGTGTCTGTGCGTGCAACATAAAAATACAGTAGCACCTAAGGAGCTTGAATCTTGGTTCCTGTAAAATTTCAAATTGATGTGGTATTAATAAAAAAAAAAAAAACACAAACAA)$ MASNSSSCPTPGGGHLNGYPVPPYAFFFPPMLGGLSPPGALTTLQHQLPVSGYSTPSPA|mHDLIFWRDVKKTGFVFGTTLIMLLSLAAFSVISVVSYLILALLSVTISFRIYKSVIQAVQKSEEGHPFKAYLDVDITLSSEAFHNYMNAAMVHINRALKLIIRLFLVEDLVDSLKLAVFMWLMTYVGAVFNGITLLILAELLIFSVPIVYEKYKTQIDHYVGIARDQTKSIVEKIQAKLPGIAKKKAE* 09BR007 ENSG00000131759.18 ENSG00000133318.14 +/+ +/+ chr17:40342867 chr11:63749991 CDS/splice-site CDS/splice-site translocation 2 0 1 28 159 high in-frame . |Reticulon(100%) . . ENSG00000131759.18 ENSG00000133318.14 ENST00000394081.7 ENST00000356000.7 downstream upstream . ^(AGCCGCTGTACTCTGCCTCGGACGCCACGAGACTCTAGACGGGAGTCCCCTCGAGGTGAAGCCGCTGAGTTCCCGGGCCCCGCCAGGCTTCCCTGGGAGAGCCGACGGACCCCCCCTCCCAGCACACACAACTTCCCTGCTTTTCACCGGGACTGGCGGAGCGGCCGGCGGACTTAGACGCGGGGACTTCAGGGCAGGGGGCGCCCCCTGCCCGGGTCACCAGTCGGGGCGAGGGGACGTCTCCTCTCCCCCAGCTGCTCTGCTCGGATGGCGCCGCCGGCTGAGTGACGGGGGCGGCGCGCAGGACTTCCCAGCTCGGAC)CTCTTGCCTTCGAGGGGAAAGATGTACGAGAGTGTAGAAGTGGGGGGTCCCACCCCTAATCCCTTCCTAGTGGTGGATTTTTATAACCAGAACCGGGCCTGTTTGCTCCCAGAGAAGGGGCTCCCCGCCCCGGGTCCGTACTCCACCCCGCTCCGGACTCCGCTTTGGAATGGCTCAAACCACT|TGCACGATCTGATTTTCTGGAGAGATGTGAAGAAGACTGGGTTTGTCTTTGGCACCACGCTGATCATGCTGCTTTCCCTGGCAGCTTTCAGTGTCATCAGTGTGGTTTCTTACCTCATCCTGGCTCTTCTCTCTGTCACCATCAGCTTCAGGATCTACAAGTCCGTCATCCAAGCTGTAC(AGAAGTCAGAAGAAGGCCATCCATTCAA___AGCCTACCTGGACGTAGACATTACTCTGTCCTCAGAAGCTTTCCATAATTACATGAATGCTGCCATGGTGCACATCAACAGGGCCCTGAAACTCATTATTCGTCTCTTTCTGGTAGAAGATCTGGTTGACTCCTTGAAG___CTGGCTGTCTTCATGTGGCTGATGACCTATGTTGGTGCTGTTTTTAACGGAATCACCCTTCTAATTCTTG___CTGAACTGCTCATTTTCAGTGTCCCGATTGTCTATGAGAAGTACAAG___ACCCAGATTGATCACTATGTTGGCATCGCCCGAGATCAGACCAAGTCAATTGTTGAAAA___GATCCAAGCAAAACTCCCTGGAATCGCCAAAAAAAAGGCAGAATAAGTACATGGAAACCAGAAATGCAACAGTTACTAAAACACCATTTAATAGTTATAACGTCGTTACTTGTACTATGAAGGAAAATACTCAGTGTCAGCTTGAGCCTGCATTCCAAGCTTTTTTTTTAATTTGGTGTTTTCTCCCATCCTTTCCCTTTAACCCTCAGTATCAAGCACAAAAATTGATGGACTGATAAAAGAACTATCTTAGAACTCAGAAGAAGAAAGAATCAAATTCATAGGATAAGTCAATACCTTAATGGTGGTAGAGCCTTTACCTGTAGCTTGAAAGGGGAAAGATTGGAGGTAAGAGAGAAAATGAAAGAACACCTCTGGGTCCTTCTGTCCAGTTTTCAGCACTAGTCTTACTCAGCTATCCATTATAGTTTTGCCCTTAAGAAGTCATGATTAACTTATGAAAAAATTATTTGGGGACAGGAGTGTGATACCTTCCTTGGTTTTTTTTTGCAGCCCTCAAATCCTATCTTCCTGCCCCACAATGTGAGCAGCTACCCCTGATACTCCTTTTCTTTAATGATTTAACTATCAACTTGATAAATAACTTATAGGTGATAGTGATAATTCCTGATTCCAAGAATGCCATCTGATAAAAAAGAATAGAAATGGAAAGTGGGACTGAGAGGGAGTCAGCAGGCATGCTGCGGTGGCGGTCACTCCCTCTGCCACTATCCCCAGGGAAGGAAAGGCTCCGCCATTTGGGAAAGTGGTTTCTACGTCACTGGACACCGGTTCTGAGCATTAGTTTGAGAACTCGTTCCCGAATGTGCTTTCCTCCCTCTCCCCTGCCCACCTCAAGTTTAATAAATAAGGTTGTACTTTTCTTACTATAAAATAAATGTCTGTAACTGCTGTGCACTGCTGTAAACTTGTTAGAGAAAAAAATAACCTGCATGTGGGCTCCTCAGTTATTGAGTTTTTGTGATCCTATCTCAGTCTGGGGGGGAACATTCTCAAGAGGTGAAATACAGAAAGCCTTTTTTTCTTGATCTTTTCCCGAGATTCAAATCTCCGATTCCCATTTGGGGGCAAGTTTTTTTCTTCACCTTCAATATGAGAATTCAGCGAACTTGAAAGAAAAATCATCTGTGAGTTCCTTCAGGTTCTCACTCATAGTCATGATCCTTCAGAGGGAATATGCACTGGCGAGTTTAAAGTAAGGGCTATGATATTTGATGGTCCCAAAGTACGGCAGCTGCAAAAAGTAGTGGAAGGAAATTGTCTACGTGTCTTGGAAAAATTAGTTAGGAATTTGGATGGGTAAAAGGTACCCTTGCCTTACTCCATCTTATTTTCTTAGCCCCCTTTGAGTGTTTTAACTGGTTTCATGTCCTAGTAGGAAGTGCATTCTCCATCCTCATCCTCTGCCCTCCCAGGAAGTCAGTGATTGTCTTTTTGGGCTTCCCCTCCAAAGGACCTTCTGCAGTGGAAGTGCCACATCCAGTTCTTTTCTTTTGTTGCTGCTGTGTTTAGATAATTGAAGAGATCTTTGTGCCACACAGGATTTTTTTTTTTTTTTAAGAAAAACCTATAGATGAAAAATTACTAATGAAACTGTGTGTACGTGTCTGTGCGTGCAACATAAAAATACAGTAGCACCTAAGGAGCTTGAATCTTGGTTCCTGTAAAATTTCAAATTGATGTGGTATTAATAAAAAAAAAAAAAACACAAACAA)$ MYESVEVGGPTPNPFLVVDFYNQNRACLLPEKGLPAPGPYSTPLRTPLWNGSNH|lHDLIFWRDVKKTGFVFGTTLIMLLSLAAFSVISVVSYLILALLSVTISFRIYKSVIQAVQKSEEGHPFKAYLDVDITLSSEAFHNYMNAAMVHINRALKLIIRLFLVEDLVDSLKLAVFMWLMTYVGAVFNGITLLILAELLIFSVPIVYEKYKTQIDHYVGIARDQTKSIVEKIQAKLPGIAKKKAE* 09BR007 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 1 4 0 12 7 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGT)ACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyertt 09BR007 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 3 1 0 12 3 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTC)AGACAGCCCAAGaATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTGGCCACATTGAGGAATCGTGTAAAATGAATGTATGTGCTCGTAAGTGAAATATATGCAGTGTTCCAACTCAATATGTTGGATCCTAATAGACCTGGA MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPrMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnpsghieesckmnvcark* 09BR007 ENSG00000134061.5(18305),ENSG00000251206.1(52918) ENSG00000249364.6 ./+ +/+ chr5:67215104 chr5:67619791 intergenic exon/splice-site deletion 2 0 0 7 2 medium . . . . . . ENSG00000249364.6 . ENST00000668508.1 downstream upstream . CAGGAGGAGTCCTTCCAGCAACTGAG___AGGACTTGGTCCGATTCTACCTCCGGAACAATGCTCAGCCCACAGCCCTCATTCCCTCCGTGATGAACAGTAACTGTGGACcTTTGACCTTCCTCTTGAGCTTGGTCTGAGTCTTGGCATTTACAACCACGGCTCTAG|GGGTAAAAGCTGACTTGGCAGAAGCTGTCTGATACTG(TGGGTCATCCTGACCTTGAGACTGCGCAACGTGCCCTGGCAGATTCAGAGTGTGTCCTGCTAGAACCCATGTGCTGGACTCATTTCCA___ATCTTATGATGGGGAACACACGAGAAGTATAAACCAAGTGCAATCGATATCAAAAGGAAGAGATTTCTTCTGTTTGGGGACATGAGGAGTAAGGAACATCACTATCATCCACGTAAGTG___AGTGTGCCTGCAGCATGCATTCATTACTGCATCTGATGGAAGCACAAAGGGAGAGACAAAGATGCAGAGAACAATG___GATATCTGCCAGTGAATGAGTCTGTTGAAATCACCACACCAAATTCAACATTAAGGGCCAACCCTGACCACAGCTGAGCCGTGTGAAGAGGCTGACAGCGGCGTGGCCACCACCCAGGATGGAGAGAAAGGCACTGTGAGGTGTTAATGGAAAAATCCAACTTCCTTTTCTTCCAAAGATGATGACTGAAACCAAAGTGGAGCTTTCCCT___TGTGAAGTGAAAGCAAAGTTTTAAAATTTTTTCTCCTCTGCAAGAAAATATATTTCAGAAAATCTCTATCTCAAAAATGAAGCAATTAAGAACTGTCTGGCTGTGAGGATCTGGCCTCAACTTGACTTAAAGCAACAACTTCAGTTACATATCAAGATGTGCGTGAGAATGAACCTGCTCTGCTCAGCCAACGTGCTGAGTGACTTGATGTTTGTAATAAATAAATAAATAAACAACAAACAGGTTGTCATGAAATATCCTTTGTAATTATAAACACAGGAAACTTTCTGAGATGCAAGTGGGTGTTAAATGGTTCAGCAAAGCCAAGCCAGAGCAGTTGGTGTGCTTTGAAATGAAGCAACATTGGAAAAATGAAATCTACTGAAAGATCACTACGTGTTTCAAAG___AACTGACTAGAACCAGAACTCTTCAGAAAAGAATGTGCTAAAGGTTTGTCCTTGAGAAGTTTCCAAGCCAAGACACTCCTAGGAGCACTTCCCATTGAGGCCGAAAGGCTCATCCACTTACAGCGATTCATGGGAAAAGAGGACAGCACCCTCATCTTTGGTCCAAGAACACAATCCTGAGTGACACAGGATTGCCCTGAAAGTCAACAGCATCCGTCTTACAAAAATCAACAACACTCGCTTTTCAAACTTCCAAAGAATTTACTGGTCTGGTTTGGCCTTTTGGTGCCACATTCCATTCCAGAACCCCAGCTAAAATGTTCTCAAGGGCTGACCAGAGATTCCTCCTCCTTTCTCTGGGCTGGTACAACTTGACCGCTGCTTGACATCAAGGTCAACTGGAGACTGGGAACAGTTATGTAACTGTGTTGTAAATTGAATTAGAGCTGTACATGAGCCCAGACCAAGTAACCAGTGCAGCTCCAGGCAAGAGCAGCAACATGTCCCCCAGAGACAGCATTGGAGGAACAGCTTACTGGGGAATGGAAAAAGGGTATCACAGGGTAAAAAAGAAACCGTCTCTTTCCAGTCCTTCTAAAGTCTGGGCAGTTGGCTGCCCCATCACATGTGGAATAAGAGGGGGGCATTAAGTGCAGAGGGAGCTGGTGTCAGTATGGCAGGCAAACACTGAGGAAAAATCAGCATACATAGTATACACAAAGAGAATGAGAAAAAAATATTTGTAACACCAGAACAGACACCACCCAGATGAAAGAAATAAGAAGGCTTACACGTGGAGAGGAAAAAAGCCTCTGGCAGTGGTCAGTGGACTGTAGAATGAGCAAGAAAGGCATGACCATCCTCCTACCAGTGACTGGTCATTCTGGAGAGGATACATGTGCACAGATCTGGAAAACCAGGGCTGAAAAGCCTTTTGACACCTTTGGTGACCTAGGACATGGTCCCCCAATGTAAGACATCATGCTAGATAGAGGGGAAAATAGTAAGTTTTCTTCAAAGGCAAATGAATACAACTTGAGATAACTTTTGAAAAGAAAAAAGGTACTGGGACCATGGCATGACTTTGATCTGTGCTAACATGACCGCCTGCAGAAGCAGATGAGGAGAGGCAGAATAATGTAAAGCTGAAAGCTTGGAGTCACCAAACCATAGATAGCTTCACCTCTTACCAAGTGCTTGATGTGTGGCTAGGTTCTTAAATCCCCTACAAGTTCCAGCTTCCTCATCTGTAAAAAACGAGCAAGTTAAGACTGGGTGAGTTAATAGATGTAAAAGTACTTAGTACAGTACTCTACAAATAGTAAGTGCCCAATAAATGTTAACTGTTATTATTATGTATTCTGTCCTTCACTATGTTAGGCCCTGGGATGTAGTGGTGACAGGCAAGGCTGCTGCTCTTGTGGTTCTTACATGAAACAAGGGAACAGGGAAATAAACAAAATAAATGCAGACTATGAAAAGTGCTAAAGAATAAATAAA)$ . 11BR003 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 16 21 0 51 41 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream mismappers(1) CTGAAGGGCGGCTCCGGGCAGGGGGGCACGATCTTAAGGACAGTCGCTCCCTGAACGCGGAGCCGGAGGAGACGAAGGGAAGGaGGcGCGGACGCCACCCGCGCACCGGGCAGGCGCGGAGACCGGCGTGGGACAGCCACCTGGAGCGCAGCTGCCAG___...AGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGA(CATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 11BR003 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 13 8 0 154 62 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(3) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCA)GAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR003 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 6 10 0 26 60 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismatches(1) GTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCaGCGGCGGCGGCGGCGGC?GC?GC-?????AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAG(GGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR003 ENSG00000159216.18 ENSG00000234703.1(75279),ENSG00000223671.2(257594) -/- ./- chr21:35048842 chr21:35214501 CDS/splice-site intergenic duplication 10 5 0 25 6 high out-of-frame . . . . ENSG00000159216.18 . ENST00000437180.5 . upstream downstream . ^(CTTTGGGCCTCATAA)ACAACCACAGAACCACAAGTTGGGTAGCCTGGCAGTGTCAGAAGTCTGAACCCAGCATAGTGGTCAGCAGGCAGGACGAATCACACTGAATGCAAACCACAGGGTTTCGCAGCGTG___GTAAAAGAAATCATTGAGTCCCCCGCCTTCAGAAGAGGGTGCATTTTCAGGAGGAAGCGATGGCTTCAGACAGCATATTTGAGTCATTTCCTTCGTACCCACAGTGCTTCATGAGAG|ACTCACTGGAGGAACAGATTCATTGAATGAGGAAAACCAAACAAATACTGACATGCAAGCAAATACTTCAAAAATAATGAGGACATTGAAATTCTAGCTCCTGTTATGGATGTAGACTATCCCAGAAGACTAGAAGCCTGCGCTCCCAAATGAAATAACCAATTCCAAGACTGCTTGAAG MASDSIFESFPSYPQCFMR|dsleeqih* 11BR003 ENSG00000197134.13 ENSG00000268278.1 +/+ +/- chr19:22052635 chr19:21640621 CDS/splice-site intron inversion/3'-3' 2 3 0 22 6 high out-of-frame . . . . ENSG00000197134.13 ENSG00000268278.1 ENST00000594947.6 . downstream downstream . ^(ACTTTGTCTCTCGCTCT)AGCCCGAGCTGCAGGTCTCGTCTTCCCTGGTCTGTGTCCTCTTCTCCTAGGGGCCCAGCCTCTGTGGCCCTGTGACCTGCAGGTATTGGGAGATCCCCAGCTAAGACGCCAGGTCCTCCTGGAAGCCTAGAAATG|AGCATCACTTGAACCcGGGAGGCGGAGGTTGCTGTGAGCCAAGATCATGACACTGCACTCCAGCTTGGGCAACAAGAGCAAAATGCTGTCTCAAAAAAAAAACAAAAAAACAAAACAAAACAAAAAAAACAACTTGAAGAAGTGTTTGCTCTATCAAATTCACAGACACCAATGCAAAACTATATTGTGCCTATTGTCAATGCTTCTATTTTTACGTAGGACTGGAAGTAAGTGGCAGAATCAT M|sit* 11BR004 ENSG00000125686.12 ENSG00000125686.12 -/- -/+ chr17:39434249 chr17:39434684 CDS/splice-site intron inversion/5'-5' 42 18 0 968 191 high out-of-frame . . . . ENSG00000125686.12 ENSG00000125686.12 ENST00000394287.7 . upstream upstream . ^(TTTGGGAAGTTCCGTTGGGGAAGATGGCGGCGGCCTCGAGCACCCTTCTCTTCTTGCCGCCGGGGACTTCAGATTGATCCTTCCCGGGAAGAGTAGGGACTGCTGGTGCCCTGCGTCCCGGGATCCCGAGCCAACTTGTTTCCTCCGTTAGTGGTGGGGAAGGGCTTATCCTTTTGTGGCGGATCTAGCTTCTCCTCGCCTTCAGGATGAAAGCTCAGGGGGAAACCGAGG___AGTCAGAAAAGCTGAGTAAGATGAGTTCTCTCCTGGAACGGCTCCATGCAAAATTTAACCAAAATAGACCCTGGAGTGAAACCATTAAGCTTGTGCGTCAAGTCATG___GAGAAGAGGGTTGTGATGAGTTCTGGAGGGCATCAACATTTGGTCAGCT)GTTTGGAGACATTGCAGAAGGCTCTCAAAG___TAACATCTTTACCAGCAATGACTGATCGTTTGGAGTCCATAGCAAGACAGAATGG___ACTGGGCTCTCATCTCAGTGCCAGTGGCACTGAATGTTACATCACGTCAGATATGTTCTATGTGGAAGTGCAGTTAGATCCTGCAGGACAGCTTTGTGATGTAAAAGTGGCTCACCATGGGGAGAATCCTGTG___AGCTGTCCGGAGCTTGTACAGCAGCTAAG___GGAAAAAAATTTTGATGAATTTTCTAAGCACCTTAAGGGCCTTGTTAATCTGTATAACCTTCCAGGGGACAA|AGACGGGGTTTCCCGATGTTGCCCAGGCCAGACTCTAACTCCAGGACTTCAGCAATGCTCTCACTTCAACCTCTCACCTTCAACAACAGGTGTGCACCACCACACCCAGCTCCTTTCCTCCAAATATGTAACTGAATTTGGATGTCAACAAAAATAAAACTTTTG MKAQGETEESEKLSKMSSLLERLHAKFNQNRPWSETIKLVRQVMEKRVVMSSGGHQHLVSCLETLQKALKVTSLPAMTDRLESIARQNGLGSHLSASGTECYITSDMFYVEVQLDPAGQLCDVKVAHHGENPVSCPELVQQLREKNFDEFSKHLKGLVNLYNLPGDk|dgvsrccpgqtltpglqqcshfnlspsttgvhhhtqllsskyvtefgcqqk* 11BR004 ENSG00000224429.8 ENSG00000271850.2 -/- +/- chr13:21330574 chr13:34435644 exon/splice-site intron duplication/5'-5' 5 24 1 831 95 high . . . . . ENSG00000224429.8 ENSG00000271850.2 ENST00000434601.7 . upstream downstream duplicates(1) ^(TCATCCTGTCCTCACAATGGCTGGTGTGGAGACCCACAG___ACTTCATCCTTAGGACGGACCTTCAGGCACCCAGGCTGCCTACTGACCTCCCTGGCATGGGTGGGAACCGGGAGCTCGTTGGTAAGCAGGAGGATTCAGGACTATCGACTGAACCCCACCTCCTCTGTGGCACGCACCGTGCTGTGTCTTTGCAGTCATCATCTCATCACCTCTGCACAGGAAGATTATCTCCCCCATTTTGTGATGAGGAAATGGAGGCTCCAGGTG___GAAAGATGCAACCTGGGCCAGAGGCCCCTGGAGGTTGTGCCTGAACCCAGACAGATCACACAAACCTGAGCAGCCATTAGCCGCTGTGTGGGCTCCTTTGCACTGTGGGGCTGCTCCTGGG___)GATATTTACGTTGTGAACTGGTAAAATCTGAACTGCAGAATATCAgTTTCCAGACATTCTTCCTAGATGATGCCGTCTGCCACGG|TCGCAGATTGGCATGAGCTGTGGAGAAAGAGTCTGGATTCTGGGTTGCTGTGTCACACACAGCCCACTTGCAGGATGACAGTGGAAGAATGAGTCATGATCTCTGCAAGCGCCCATCAAGAACAGCCTGAGAGGTCTGGAAAGTGCTCACCCCAGGACCCTTCATGTCCTTATTAAAATTGTATGGCAGAAAAAATGAGTCATAGGTGAAAAACAGGCTCTATAAAAAGCTTTTCTTGCCTTGGTATCAGAC . 11BR004 ENSG00000251396.7 ENSG00000137575.12 -/- +/+ chr8:60508647 chr8:58565019 exon/splice-site CDS/splice-site inversion 3 16 0 14 320 high . . |PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%) . . ENSG00000251396.7 ENSG00000137575.12 ENST00000530725.6 ENST00000523483.5 upstream upstream duplicates(1),mismatches(1) ^(AGGGCGGGGCCCGGCTCCGGTTGTTCCGCCACGTTTGAGCGGGCGAGCCCGGCGGCCGGGAGACGCCAGGGAACGGGGCTGGTGGGGGTACAAAGGCTCGGTTCCGTCGCCTTCAGCCCTGCGGTGGGGGCACGGGGCAAGTGAGGGGACGGCAGAGG)CGGCGTTCGGTGTGAGGCTGCGCCCTGGGCTCCTGAAAAT___CCAGGGCTGCAGTCATTTGAAGGCTTGACTGGGGCTGGAGGATTTTCATCCAAGATGGCTCACTCACCCAGCTGTTGGCAGGAGACCTCGGTTCTTTGACTTCTCCGTAAGACTGT|AAGAATCCTGCAAAAATGTCTCTCTATCCATCTCTCGAAGACTTGAAGGTAGACAAAGTAATTCAG___GCTCAAACTGCTTTTTCTGCAAACCCTGCCAATCCAGCAATTTTGTCAGAAGCTTCTGCTCCTATCCCTCACGATGGAA___ATCTCTATCCCAGACTGTATCCAGAGCTCTCTCAATACATGGGGCTGAGTTTAAATGAAGAAGAAATACGTGCAAATGTGGCC(GTGGTTTCTGGTGCACCACTTCAGGGG___TTGGTAGCAAGACCTTCCAGTATAAACTATATGGTGGCTCCTGTAACTGGTAATGATGTTGGAATTCGTAGAGCAGAAATTAAGCAAGGGATTCGTGAAGTCATTTTGTGTAAGGATCAAGATGGAAAAATTGGACTCAGGCTTAAATCAATAGATAAT___GGTATATTTGTTCAGCTAGTCCAGGCTAATTCTCCAGCCTCATTGGTTGGTCTGAGATTTGGGGACCAAGTACTTCAGATCAATGGTGAAAACTGTGCAGGATGGAGCTCTGATAAAGCGCACAAGGTGCTCAAACAGGCTTTTGGAGAGAAGATTACCATGACCATTCGTGACAG___GCCCTTTGAACGGACGATTACCATGCATAAGGATAGCACTGGACATGTTGGTTTTATCTTTAAAAATGGAAAAATAACATCCATAGTGAAAGATAGCTCTGCAGCCAGAAATGGTCTTCTCACGGAACATAACATCTGTGAAATCAATGGACAGAATGTCATTGGATTGAAG___GACTCTCAAATTGCAGACATACTGTCAACATCTGGGACTGTAGTTACTATTACAATCATGCCTGCTTTTATCTTTGAACATATTATTAAGCG___GATGGCACCAAGCATTATGAAAAGCCTAATGGACCACACCATTCCTGAGGTTTAAAATTCACGGCACCATGGAAATGTAGCTGAACGTCTCCAGTTTCCTTCTTTGGCAACTTCTGTATTATGCACGTGAAGCCTTCCCGGAGCCAGCGAGCATATGCTGCATGAGGACCTTTCTATCTTACATTATGGCTGGGAATCTTACTCTTTCATCTGATACCTTGTTCAGATTTCAAAATAGTTGTAGCCTTATCCTGGTTTTACAGATGTGAAACTTTCAAGAGATTTACTGACTTTCCTAGAATAGTTTCTCTACTGGAAACCTGATGCTTTTATAAGCCATTGTGATTAGGATGACTGTTACAGGCTTAGCTTTGTGTGAAAACCAGTCACCTTTCTCCTAGGTAATGAGTAGTGCTGTTCATATTACTTTAGTTCTATAGCATACTTGCATCTTTAACATGCTATCATAGTACATTTAGAATGATTGCCTTTGATTTTTTTTTTAAATTCTGTGTGTGTGTGTGTAAAATGCCAATTAAGAACACTGGTTTCATTCCATGTAAGCATTAAACAGTGTATGTAGGTTTCAAGAGATTGTGATGATTCTTAAATTTTAACTACCTTCACTTAATATGCTTGAACTGTCGCCTTAACTATGTTAAGCATCTAGACTAAAAGCCAAAATATAATTATTGCTGCCTTTCTAAAAACCCAAAATGTAGTTCTCTATTAACCTGAAATGTACACTAGCCCAGAACAGTTTAATGGTACTTACTGAGCTATAGCATAGCTGCTTAGTTGTTTTTGAGATTTTTTAGTCAACACATAATGGAAACTTCTTTCTTCTAAAAGTTGCCAGTGCCACTTTTAAGAAGTGAATCACTATATGTGATGTAAAAGTTATTACACTAAACAGGATAAACTTTTGACTCCCCTTTTGTTCATTTGTGGATTAAGTGGTATAATACTTAATTTTGGCATTTGACTCTTAAGATTATGTAACCTAGCTACTTTGGGATGGTCTTAGAATATTTTTCTGATAACTTGTTCCTTTTCCTGACTCCTCCTTGCAAACAAAATGATAGTTGACACTTTATCCTGATTTTTTTCTTCTTTTTGGTTTATGTCTATTCTAATTAAATATGTATAAATAAAGTTACATTTTAGTCTGTC)$ . 11BR004 ENSG00000224429.8 ENSG00000278477.1(83954),ENSG00000271850.2(942) -/- ./- chr13:21330574 chr13:34347044 exon/splice-site intergenic duplication 7 10 0 831 25 high . . . . . ENSG00000224429.8 . ENST00000434601.7 . upstream downstream duplicates(1) ^(TCATCCTGTCCTCACAATGGCTGGTGTGGAGACCCACAG___ACTTCATCCTTAGGACGGACCTTCAGGCACCCAGGCTGCCTACTGACCTCCCTGGCATGGGTGGGAACCGGGAGCTCGTTGGTAAGCAGGAGGATTCAGGACTATCGACTGAACCCCACCTCCTCTGTGGCACGCACCGTGCTGTGTCTTTGCAGTCATCATCTCATCACCTCTGCACAGGAAGATTATCTCCCCCATTTTGTGATGAGGAAATGGAGGCTCCAGGTG___GAAAGATGCAACCTGGGCCAGAGGCCCCTGGAGGTTGTGCCTGAACCCAGACAGATCACACAAACCTGAGCAGCCATTAGCCGCTGTGTGGGCTCCTTTGCACTGTGGGGCTGCTCCTGGG___)GATATTTACGTTGTGAACTGGTAAAATCTGAACTGCAGAATATCAgTTTCCAGACATTCTTCCTAGATGATGCCGTCTGCCACGG|GTCATTTTGCTGAAAAGGAGGAACGTGGGATCAAGTTCTGTGACTTCAGAGAAGAGTTGCGTGTACAAAACTTTGGGAGAGGATCACCACAGAGAGG...___GAAGACAAATGATCAGCCTGTGTCAAGCATATGAAGACC . 11BR004 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 13 0 23 63 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1),mismatches(2) CCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCaGCGGCGGCGGCGGCGGC?GC?GC????GCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGC(TATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR004 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 8 1 28 19 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGT)GGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR004 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 6 7 0 15 19 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream . CCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGAC(CTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR004 ENSG00000171475.14 ENSG00000264968.1 +/+ +/- chr17:40265146 chr17:39935645 CDS/splice-site intron inversion/3'-3' 2 2 0 94 12 high out-of-frame . WH2_motif(100%)| . . ENSG00000171475.14 ENSG00000264968.1 ENST00000323571.9 . downstream downstream mismappers(1) ^(ATTTTGTTCGCGGACGCTGGGGACGGTGGGAGCAGATCCATTTCCGGGTTGGCAAAAGGGGCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGACGGCGAGAAAGAGCTTGCCGGGGGGCGAGCAGGACAGGACGAAGCCGGAGTGTAGGCGGCAGAGGATTCGCTCCCAGAGCAGCTGCGGCCAG___GTATATGAATGACCTAAAGGTACAAATAAAGACGGAGAGAGAACAGTGCCAACTGGGAGCAGGGCAAGAATGCCAATTCCTCCTCCCCCGCCACCCCCACCTGGTCCTCCTCCACCTCCCACATTTCATCAG___GCAAACACAGAGCAGCCCAAGCTGAGTAGAGATGAGCAGCGGGGTCGAGGCGCCCTCTTACAGGACATTTGCAAAGGGACCAAGCTGAAGAAGGTGACCAACATTAATGATCGGAGTGCTCCCATCCTCGAGA___AGCCGAAAGGAAGCAGTGGTGGCTATGGCTCTGGAGGAGCTGCCCTGCAGCCCAAGGGAGGTCTCTTCCAAGGAGGAGTGCTGAAGCTTCGACCTGTGGGAGCCAAGGATGGTTCAG___AGAACCTAGCTGGTAAGCCAGCCCTGCAAATCCCCAGTTCTCGAGCTGCTGCCCCAAGGCCTCCAGTATCTGCCGCCAGCGGGCGTCCTCAGGATGATACAGACAGCAGCCGGGCCTCACTCCCAGAACTGCCCCGGATGCAGAGACCCTCTTTACCGGACCTCTCTCGGCCTAATACCACCAGCAGTACGGGCATGAAGCACAGCTCCTCTGCCCCTCCCCCACCACCCCCAGGGCGGCGTGCCAACGCACCCCCCACACCTCTGCCTATGCACAGCAGCAAAGCCCCCGCCTACAACAGAGAGAAACCCTTGCCACCGACGCCTGGACAAAGGCTTCACCCTGGTCGAGAGGGACCTCCTGCTCCACC)CCCAGTCAAACCACCTCCTTCCCCTGTGAATATCAGAACAGGACCAAGTGGCCAGTCTCTGGCTCCTCCTCCTCCGCCTTACCGCCAGCCTCCTGGGGTCCCCAATGGACCCTCTAGCCCCACTAATGAGTCAGCCCCTGAGCTGCCACAGAGACACAATTCTTTGCATAGGAAGACACCAGGGCCTGTCAGAGGCCTAGCACCTCCTCCACCCACCTCGGCCTCCCCATCTTTACTGAGTAATAGGCCACCTCCCCCAGCCCGAGACCCTCCCAGTCGGGGAGCAG|GTCTCGTTCTGTCATCCAGGCTGGACCACAGTGGCATGATCACAGCTCACTTGCAGCCTCAACCTCCTGGGTTCAAGCCGTCTTCCCACCTCACCCTCCCAAGTAGCTGGGACTACAGGCGCACACCACCACACCCAGCTAACTTTTGTATTTTTGTGTAGAGCCACC MPIPPPPPPPPGPPPPPTFHQANTEQPKLSRDEQRGRGALLQDICKGTKLKKVTNINDRSAPILEKPKGSSGGYGSGGAALQPKGGLFQGGVLKLRPVGAKDGSENLAGKPALQIPSSRAAAPRPPVSAASGRPQDDTDSSRASLPELPRMQRPSLPDLSRPNTTSSTGMKHSSSAPPPPPPGRRANAPPTPLPMHSSKAPAYNREKPLPPTPGQRLHPGREGPPAPPPVKPPPSPVNIRTGPSGQSLAPPPPPYRQPPGVPNGPSSPTNESAPELPQRHNSLHRKTPGPVRGLAPPPPTSASPSLLSNRPPPPARDPPSRGA|glvlssrldhsgmitahlqpqppgfkpsshltlpsswdyrrtpphpanfcifv* 11BR004 ENSG00000188352.12 ENSG00000107186.16 +/+ -/- chr9:20885230 chr9:13168564 CDS/splice-site CDS/splice-site inversion 2 1 0 59 12 high out-of-frame . Protein_of_unknown_function_(DUF3730)_(100%)|PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Unstructured_region_10_on_multiple_PDZ_protein(100%) . . ENSG00000188352.12 ENSG00000107186.16 ENST00000380249.5 ENST00000319217.11 downstream downstream . ^(GTTCGAGCTTCCCGGCTGCTTTGTTTACCTAATCAAGCCTGGGCAATGGCGGGCGCCCCTCCCGCAGCCTCGCTGCCGCCTTGCAGGTTGATCTCAGACTGCTGTGCTAGCAATCAGTGAGACTCCGTGGGCGTAGGACTCTCCAAGCCAG___TGAGATGAACTCGGTATCTCAGATGGAAATGCAGAAATCACCGTCTTCTCCATCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTTGCTCCTCCCTGCAACTAACTCCATTCTTAATTG___ACCATCAAGGAAATTTCCATCCACACAGATTAGCAGTTGAAAATG___AAGCTGCACACATACATGTAAGAGAAGCAAAAATGTCAGATGATATCAGGAAAAGGTTTGAATTTCCAAATTCTCTTATCCAATCACAG___GCTGTGGGTCATCTTATTGCTGCAGTCCTAAAGGAAAATGGTTTTTCAGAAAAGATTCACCAATCTACAAATCAG___ACTCCTGCTTTGAACTTGCTGTGGGAGAAGTGTTGCAGTGACAATGTAGTGGTTCGAACAGCCTGCTGTGAAGGTCTGGTGGCACTCGTTGCTCAGGATCATGCAGAGTTCAGCTATGTTCTCAATGGGATACTCAACTTGATTCCATCAACCAG___AAATACACATGGCTTGATAAAAGCCATTATGCACTTACTACAAATGCAAGCTCTTAAGGAAGGACAAGGTGGGGAAAAGAATATTCAGAGTATATATACCATTAG___AAATCATCCTCATCCTTTGATAACTGTGCTTGAACACAGACCTGATTGCTGGCCAGTGTTTTTGCAGCAGCTGACAGCGTTTTTCCAGCAGTGCCCTGAAAG___GTTAGAAGTTTCATGCATTCAAATAATGGCACCATTTCTGTGGTATCTGTATTGTGAACCATCTCAGTTACAAGAATATGCTAAACTCCGACTAGCCCTGCTGAAAGTCTTACTTCAACCCCAGGTTCTTTGTGACAAAGATCAACCATCAATACTGGAACAGCAGATACTTCAACTGTGTTGTGACATAGTTCCATGTTTGCAG___GTAAAAGATTTGATACAGACAACAGAGGCGATGATGTTTATTGAGGAAGTATGTTTAAGCCTTTTGCGTCATCCTGTTTTCTGGAAAATTCAGCTTACCCAGATGAGTCTTCAGCTGCTGTGTGTCAGTGAAGTCAGCTTAAAGATAACTGGTGAATGTTCATCTTCAATTCACCTTTTAGAGCACAGTGTTGAACTTCTGAAGGAG___GATTTTCCTGTTGAACTGGTCATAATTGGAATAGCTTTACTACTTCTACAGACTCCAGCAAGTCAGCAGAAGCCAATCTTAAATCTAG___CTTTGAAGCTCCTCTCTGTTACTGAGGATCAGAAAATCCCAAAGTCCTCTCTGCTGCTAGTGATGCCAATTCTGCAGATACTATCTTCTACTGCCTTGGAAGACTGTATATCTGTGGATGAAGAAGGTCCCTCTAGGCAGCAGTTGGCTCTAAACCTTTTGGAAATGATACAGCAGGAATGTTACAGAGATGACCACCAAAAG___CTCTCCTACAAGCTTGTGTGCCCTGTAACCAGTATGTATGGTACAATATTTACAGCCTGGAGGATTCTTGAAGTAATGACAGACTCGTCTGCTGCAAGTGACTGGTTGGCTTCAGTAGAGTCATTGCTTCCTATTACTGCTGTGATCCCTGCGCCTGCCTTTCTTCTGCTGGCTCACCTCCTTGTTGAAGACAAAGGACAAAATCTTCACCAAATACTCAAGGTCACTACAGAATTAGCCCAAGCAGATTCCTCCCAG___GTGCCAAATCTGATTCCAGTTTTGATGTTCAAATTGGGAAGACCACTGGAACCTATATTATATAATGATATATTGTATACTTTACCTAAGCTTGGTGTTCACAAG___GTGTGTATAGGACAAATTCTACGAATAATACAACTACTTGGAACCACACCACGACTAAGAGCTGTCACTTTGCGCTTGCTGACATCTTTGTGGGAAAAGCAG___GACCGAGTCTATCCTGAACTGCAGCGTTTCATGGCTGTGTCTGATGTACCTTCTCTTTCGGTGGGCAAGGAAGTCCAATGGGAGAAACTGATTGCAAAAGCAGCATCAATCAGAGATATATGTAAGCAGAG___GCCATATCAACATGGTGCAGATATGTTGGCAGCTATTTCTCAAGTGTTGAATGAATGCACCAAGCCTGATCAAGCTACTCCAGCAGCCTTGGTATTACAGGGTCTTCATGCACTCTGTCAAGCTGAG___GTTGTTTGCATTCGCTCCACTTGGAATGCTCTCTCTCCAAAGCTGAGTTGTGACACAAGACCTCTCATTCTGAAGACACTGAGTGAACTATTTTCTCTAGTTCCTTCCTTAACGGTCAATACAACTGAATATGAG___AATTTTAAAGTTCAAGTCCTCAGCTTCCTCTGGACTCATACTCAAAACAAG___GACCCAATTGTAGCAAATGCTGCATATAGATCCCTGGCCAACTTTAGTGCAGGAGAACACACCATTCTTCATCTGCCTGAAAAG___ATAAGACCAGAAATTCCCATTCCTGAAGAGTTAGATGACGATGAAGATGTTGAGGATGTGGATCTTTCAGTTCCTGGCTCTTGCTATCTCAAACTGTTGTCACTCACTCCCCCTTTGGTTTTACCAG___CTTTGGAGGAATTTTTTACATCACTTGTGAAGCAAGAAATGGTGAATATGCCTCGTGGGATATATCACTCTGCATTAAAAGGAGGTGCCCGCTCAGACCAAGGAAAGACTGTAGCAGGAATCCCCAATTTTATATTGAAAATGTATGAAACAAACAAGCAA)CCAGGACTGAAACCTGGCCTTGCAG___GTGGTATGTTATTTTGCTATGATGTTTCCATGTATCAGAGTAAAGATGGAAAACCATTGAACAGACTGATGGCCAGCAGAGGGCGAAGTTTCAAGCAGACTTCACTTGCTCTTGTACATGAG|GAATGACAGTTAGTGCTAATAAAGATGGCTTGGGGATGATCGTTCGAAGCATTATTCATGGAGGTGCCATTAGTCGAGATGGCCGGATTGCCATTGGGGACTGCATCTTGTCCATTAATGAAGAGTCTACCATCAGTGTAACCAATGCCCAGGCACGAGCTATGTTGAGAAGACATTCTCTCATTGGCCCTGACATAAA___AATTACTTATGTGCCTG(CAGAACATTTGGAAGAGTTCAAAATAAGCTTGGGACAACAATCTGGAAGAGTAATGGCACTGGATATTTTTTCTTCATACACTGGCAG___AGACATTCCAGAATTACCAGAGCGAGAAGAGGGAGAGGGTGAAGAAAGCGAACTTCAAAACACAGCATATAGCAATTGGAATCAGCCCAGGCG___GGTGGAACTCTGGAGAGAACCAAGCAAATCCTTAGGCATCAGCATTGTTGGTGGACGAGGGATGGGGAGTCGGCTAAGCAATGGAGAAGTGATGAGGGGCATTTTCATCAAACATGTTCTGGAAGATAGTCCAGCTGGCAAAAATGGAACCTTGAAACCTGGAGATAGAATCGTAGAG___GTGGATGGAATGGACCTCAGAGATGCAAGCCATGAACAAGCTGTGGAAGCCATTCGGAAAGCAGGCAACCCTGTAGTCTTTATGGTACAGAGCATTATAAACAGACCAAGG___AAATCCCCTTTGCCTTCCTTGCTGCACAACCTTTACCCTAAGTACAACTTCAGCAGCACTAACCCATTTGCTGACTCTCTACAAATCAACGCCGACAAG___GCACCCAGTCAGTCAGAGTCAGAGCCAGAGAAGGCTCCATTGTGCAGTGTGCCCCCACCCCCTCCTTCAGCCTTTGCCGAAATGGGTAGTGATCACACACAGTCATCTGCAAGCAAAATCTCACAAGATGTGGACAAAGAGGATGAGTTTGGTTACAGCTGGA___AAAATATCAGAGAGCGTTATGGAACCCTAACAGGCGAGCTGCATATGATTGAACTGGAGAAAGGTCATAGTGGTTTGGGCCTAAGTCTTGCTGGGAACAAAGACCGATCCAGGATGAGTGTCTTCATAGTGGGGATTGATCCAAATGGAGCTGCAGGAAAAGATGGTCGATTGCAAATTGCAGATGAGCTTCTAGAG___ATCAATGGTCAGATTTTATATGGAAGAAGTCATCAGAATGCCTCATCAATCATTAAATGTGCCCCTTCTAAAGTGAAAATAATTTTTATCAG___AAATAAAGATGCAGTGAATCAGATGGCCGTATGTCCTGGAAATGCAGTAGAACCTTTGCCTTCTAACTCAGAAAATCTTCAAAATAAGGAG___ACAGAGCCAACTGTTACTACTTCTGATGCAGCTGTGGACCTCAGTTCATTTAAAAATGTGCAACATCTGGAGCTTCCCAAG___GATCAGGGGGGTTTGGGTATTGCTATCAGCGAAGAAGATACACTCAGTGGAGTCATCATAAAGAGCTTAACAGAGCATGGGGTAGCAGCCACG___GATGGACGACTCAAAGTCGGAGATCAGATACTGGCTGTAGATGATGAAATTGTTGTTGGTTACCCTATTGAAAAG___TTTATTAGCCTTCTGAAGACAGCAAAGATGACAGTAAAACTTACCATCCATGCTGAGAATCCAGATTCCCAGGCTGTTCCTTCAGCAGCTGGTGCAGCCAGTGGAGAAAAAAAGAACAGCTCCCAGTCTCTGATGGTCCCACAGTCTGGCTCCCCAGAACCGGAGTCCATCCGAA___ATACAAGCAGATCATCAACACCAGCAATTTTTGCTTCTGATCCTGCAACCTGCCCCATTATCCCTGGCTGCGAAACAACCATCGAGATTTCCAAAGGGCGAACAGGGCTGGGCCTGAGCATCGTTGGGGGTTCAGACACGCTGCTG___GGTGCCATTATTATCCATGAAGTTTATGAAGAAGGAGCAGCATGTAAAGATGGAAGACTCTGGGCTGGAGATCAGATCTTAGAG___GTGAATGGAATTGACTTGAGAAAGGCCACACATGATGAAGCAATCAATGTCCTGAGACAGACGCCACAGAGAGTGCGCCTGACACTCTACAGAGATGAGGCCCCATACAAAGAGGAGGAAGTGTGTGACACCCTCACTATTGAGCTGCAGAAGAAGCCGGGAAAAGGCCTAGGATTAAGTATTGTTGGTAAAAG___AAACGATACTGGAGTATTTGTGTCAGACATTGTCAAAGGAGGAATTGCAGATGCCGATGGAAGACTGATGCAGGGAGACCAGATATTAATGGTGAATGGGGAAGACGTTCGTAATGCCACCCAAGAAGCGGTTGCCGCTTTGCTAAAG___TGTTCCCTAGGCACAGTAACCTTGGAAGTTGGAAGAATCAAAGCTGGTCCATTCCATTCAGAGAGGAGGCCATCTCAAAGCAGCCAG___GTGAGTGAAGGCAGCCTGTCATCTTTCACTTTTCCACTCTCTGGATCCAGTACATCTGAGTCACTGGAAAGTAGCTCAAAGAAGAATGCAT___TGGCATCTGAAATACAGGGATTAAGAACAGTCGAAATGAAAAAG___GGCCCTACTGACTCACTGGGAATCAGCATCGCTGGAGGAGTAGGCAGCCCACTTGGTGATGTGCCTATATTTATTGCAATGATGCACCCAACTGGAGTTGCAGCACAGACCCAAAAACTCAGA___GTTGGGGATAGGATTGTCACCATCTGTGGCACATCCACTGAGGGCATGACTCACACCCAAGCAGTTAACCTACTGAAAAATGCATCTGGCTCCATTGAAATGCAG___GTGGTTGCTGGAGGAGACGTGAGTGTGGTCACAGGTCATCAGCAGGAGCCTGCAAGTTCCAGTCTTTCTTTCACTGGGCTGACGTCAAGCAGTATATTTCAGGATGATTTAGG___ACCTCCTCAATGTAAGTCTATTACACTAGAGCGAGGACCAGATGGCTTAGGCTTCAGTATAGTTGGAGGATATGGCAGCCCTCATGGAGACTTACCCATTTATGTTAAAACAGTGTTTGCAAAG___GGAGCAGCCTCTGAAGACGGACGTCTGAAAAGGGGCGATCAGATCATTGCTGTCAATGGGCAGAGTCTAGAAGGAGTCACCCATGAAGAAGCTGTTGCCATCCTTAAACGGACAAAAGGCACTGTCACTTTGATGGTTCTCTCTTGAATTGGCTGCCAGAATTGAACCAACCCAACCCCTAGCTCACCTCCTACTGTAAAGAGAATGCACTGGTCCTGACAATTTTTATGCTGTGTTCAGCCGGGTCTTCAAAACTGTAGGGGGGAAATAACACTTAAGTTTCTTTTTCTCATCTAGAAATGCTTTCCTTACTGACAACCTAACATCATTTTTCTTTTCTTCTTGCATTTTGTGAACTTAAAGAGAAGGAATATTTGTGTAGGTGAATCTCGTTTTTATTTGTGGAGATATCTAATGTTTTGTAGTCACATGGGCAAGAATTATTACATGCTAAGCTGGTTAGTATAAAGAAAGATAATTCTAAAGCTAACCAAAGAAAATGGCTTCAGTAAATTAGGATGAAAAATGAAAATATAAAATAAAGAAGAAAATCTCGGGGAGTTTAAAAAAAATGCCTCAATTTGGCAATCTACCTCCTCTCCCCACCCCAAACTAAAAAAAGAAAAAAAGGTTTTCTAATGAAAATCTTTAAAAATACTGTCAGTATTTTAAAATTTTCAACAGTATTATAAAAACATTGCATCTCCCCACCTCTAATATGCATATATATTTTTCCTGCTAAAATTGGTTTCTACAATTGAGTAAATGGCAAATACATGAAGCAATGTCCCTAAATTTTATAAAGAAATTATATTTAATGCACATTTCAATTTTCATTCTTATTTTTGACCTTTTGTAAAATATTTTCATGTTGCTATAAGTAAATGATGATGCCACCCCATGTTGACTATGGTTTTTCTAGAAAGCAACTATGCTGCTAACCATAGAGGAACATAGAAGGGTTCCAGAATCTTTAGTGCTGGTTTTAACAACCGATGCAACATTAAAAATGTGTTAGTGTGCTGTGCAATTGGTTTTCAATTCATATTAATCTTAATGACAGAGAACAATGTGTTACTAATTATTTTGGTTGTATGCCATTAGTAAATTGATAGAAAAATTAAGGGGATTAACATAACTTCATTTCATTGACTTATATTAACATCTTATAATACAATAGTTTAAGACTAAGGGAAACAGATGGAGCTGTTTATTGAGACAACTGGTGAGGAATTATCATGTGTTCATTCCCATTTTAGAGCGTGAAACTCCTACATTAGAATATATAAAGTCACTTTAAATATCTATATTTGTAACAGAAGTAGTGTACAGATATTTTATTACAGCATTTTTGTGTAAATGCAGAATTAAAGTGAATAAATAAGAATTTTCAGTGGTGCACAAATAA)$ MSDDIRKRFEFPNSLIQSQAVGHLIAAVLKENGFSEKIHQSTNQTPALNLLWEKCCSDNVVVRTACCEGLVALVAQDHAEFSYVLNGILNLIPSTRNTHGLIKAIMHLLQMQALKEGQGGEKNIQSIYTIRNHPHPLITVLEHRPDCWPVFLQQLTAFFQQCPERLEVSCIQIMAPFLWYLYCEPSQLQEYAKLRLALLKVLLQPQVLCDKDQPSILEQQILQLCCDIVPCLQVKDLIQTTEAMMFIEEVCLSLLRHPVFWKIQLTQMSLQLLCVSEVSLKITGECSSSIHLLEHSVELLKEDFPVELVIIGIALLLLQTPASQQKPILNLALKLLSVTEDQKIPKSSLLLVMPILQILSSTALEDCISVDEEGPSRQQLALNLLEMIQQECYRDDHQKLSYKLVCPVTSMYGTIFTAWRILEVMTDSSAASDWLASVESLLPITAVIPAPAFLLLAHLLVEDKGQNLHQILKVTTELAQADSSQVPNLIPVLMFKLGRPLEPILYNDILYTLPKLGVHKVCIGQILRIIQLLGTTPRLRAVTLRLLTSLWEKQDRVYPELQRFMAVSDVPSLSVGKEVQWEKLIAKAASIRDICKQRPYQHGADMLAAISQVLNECTKPDQATPAALVLQGLHALCQAEVVCIRSTWNALSPKLSCDTRPLILKTLSELFSLVPSLTVNTTEYENFKVQVLSFLWTHTQNKDPIVANAAYRSLANFSAGEHTILHLPEKIRPEIPIPEELDDDEDVEDVDLSVPGSCYLKLLSLTPPLVLPALEEFFTSLVKQEMVNMPRGIYHSALKGGARSDQGKTVAGIPNFILKMYETNKQPGLKPGLAGGMLFCYDVSMYQSKDGKPLNRLMASRGRSFKQTSLALVHE|e* 11BR004 ENSG00000108344.15 ENSG00000171475.14 +/+ +/- chr17:39981355 chr17:40271146 intron intron inversion/3'-3' 12 9 1 86 46 medium out-of-frame . . . . ENSG00000108344.15 ENSG00000171475.14 ENST00000264639.9 . downstream downstream duplicates(1) ^(AGAAGGCCCAGCGCCGGGAAGGGGTTTGCAGCTGCTCCGTCATCGTGCGGCCCGACGCTATCTCGCGCTCGTGTGCAGGCCCGGCTCGGCTCCTGGTCCCCGGTGCGAGGGTTAACGCGAGGCCCCGGCCTCGGTCCCCGGACTAGGCCGTGACCCCGGGTGCCATGAAGCAGGAGGGCTCGGCGCGGCGCCGCGGCGCGGACAAGGCGAAACCGCCGCCCGGCGGAGGAGAACAAGAACCCCCACCGCCGCCGGCCCCCCAGGATGTGGAGATGAAAGAGGAGGCAGCGACGGGTGGCGGGTCGACGGGGGAGGCAGACGGCAAGACGGCGGCGGCAGCGGCTGA)GCACTCCCAGCGAGAGCTGGACACAGTCACCTTGGAGGGTACGGCAGCCCAGGCCGGGAACGTGCCGCGATCGCGGGTGACAGCGACCCCTGTGATTTGGCTTCTTGCTGGGAAGCCACAGCAGCCTCCACCACCCTCAGTTCTTTGGGATCACCCCCAGATACCTGCTCCCACTGCCCCGACACTCCCGACTCCAGGCCCAA|GTACAAAAATTAGCCAAGCGTGGTGGCACACGCCTGCAATCCCAGATATTCTGGAGCCTGAGGTGGGAGGAGCTTGAACCTGGGAGATGGAGGCTGCAATAAGCCAACATCGCGCCACTGCACTCCAGCCTGGTGACACAGCAAGACTGTCTCAAAGAAAAGAGTATCTTATTATTCCTCCTGATTACTATCAGAATTGCTGTAGTGACTATAGTTAAGCATGTAACACAGTAATAGAATAACATACACACACACACACACACAATCTGGCACAATAAGCCCAATAAATGTTTTTGCTTCCC MKQEGSARRRGADKAKPPPGGGEQEPPPPPAPQDVEMKEEAATGGGSTGEADGKTAAAAAEHSQRELDTVTLEgtaaqagnvprsrvtatpviwllagkpqqppppsvlwdhpqipaptaptlptpgp|stkisqawwhtpaipdilepevgga* 11BR004 ENSG00000171475.14 ENSG00000172057.10 +/+ -/- chr17:40265146 chr17:39924225 CDS/splice-site 5'UTR/splice-site inversion 10 4 1 94 2297 medium out-of-frame . WH2_motif(100%)| . . ENSG00000171475.14 ENSG00000172057.10 ENST00000323571.9 ENST00000304046.7 downstream downstream duplicates(1),mismatches(1) ^(ATTTTGTTCGCGGACGCTGGGGACGGTGGGAGCAGATCCATTTCCGGGTTGGCAAAAGGGGCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGACGGCGAGAAAGAGCTTGCCGGGGGGCGAGCAGGACAGGACGAAGCCGGAGTGTAGGCGGCAGAGGATTCGCTCCCAGAGCAGCTGCGGCCAG___GTATATGAATGACCTAAAGGTACAAATAAAGACGGAGAGAGAACAGTGCCAACTGGGAGCAGGGCAAGAATGCCAATTCCTCCTCCCCCGCCACCCCCACCTGGTCCTCCTCCACCTCCCACATTTCATCAG___GCAAACACAGAGCAGCCCAAGCTGAGTAGAGATGAGCAGCGGGGTCGAGGCGCCCTCTTACAGGACATTTGCAAAGGGACCAAGCTGAAGAAGGTGACCAACATTAATGATCGGAGTGCTCCCATCCTCGAGA___AGCCGAAAGGAAGCAGTGGTGGCTATGGCTCTGGAGGAGCTGCCCTGCAGCCCAAGGGAGGTCTCTTCCAAGGAGGAGTGCTGAAGCTTCGACCTGTGGGAGCCAAGGATGGTTCAG___AGAACCTAGCTGGTAAGCCAGCCCTGCAAATCCCCAGTTCTCGAGCTGCTGCCCCAAGGCCTCCAGTATCTGCCGCCAGCGGGCGTCCTCAGGATGATACAGACAGCAGCCGGGCCTCACTCCCAGAACTGCCCCGGATGCAGAGACCCTCTTTACCGGACCTCTCTCGGCCTAATACCACCAGCAGTACGGGCATGAAGCACAGCTCCTCTGCCCCTCCCCCACCACCCCCAGGGCGGCGTGCCAACGCACCCCCCACACCTCTGCCTATGCACAGCAGCAAAGCCCCCGCCTACAACAGAGAGAAACCCTTGCCACCGACGCCTGGACAAAGGCTTCACCCTGGTCGAGAGGGACCTCCTGCTCCACCCCCAGTCAAACCACCTCCTTCCCCTGTGAATATCAGAACAGGAC)CAAGTGGCCAGTCTCTGGCTCCTCCTCCTCCGCCTTACCGCCAGCCTCCTGGGGTCCCCAATGGACCCTCTAGCCCCACTAATGAGTCAGCCCCTGAGCTGCCACAGAGACACAATTCTTTGCATAGGAAGACACCAGGGCCTGTCAGAGGCCTAGCACCTCCTCCACCCACCTCGGCCTCCCCATCTTTACTGAGTAATAGGCCACCTCCCCCAGCCCGAGACCCTCCCAGTCGGGGAGCAG|AACAGCAGAGAGGGGCAGCAGGATGAATGTGGGCACAGCGCACAGCGAGGTGAACCCCAACACGCGGGTGATGAACAGCCGTGGCATCTGGCTCTCCTACGTGCTGGCCATCGGTCTCCTCCACATCGTGCTGCTGAGCATCCCGTTTGTGAGTGTCCCTGTCGTCTGGACCCTCACCAACCTCATTCACAACATG___GGCATGTATATCTTCCTGC(ACACGGTGAAGGGGACACCCTTTGAGACCCCGGACCAGGGCAAGGCGAGGCTGCTAACCCACTGGGAGCAGATGGATTATGGGGTCCAGTTCACGGCCTCTCGGAAGTTCTTGACCATCACACCCATCGTGCT___GTACTTCCTCACCAGCTTCTACACTAAGTACGACCAGATCCATTTTGTGCTCAACACCGTGTCCCTGATGAGCGTGCTTATCCCCAAGCTGCCCCAGCTCCACGGAGTCCGGATTTTTGGAATCAATAAGTACTGAGAGTGCAGCCCCTTCCCCTGCCCAGGGTGGCAGGGGAGGGGTAGGGTAAAAGGCATGTGCTGCAACACTGAAGACAGAAAGAAGAAGCCTCTGGACACTGCCAGAGATGGGGGTTGAGCCTCTGGCCTAATTTCCCCCCTCGCTTCCCCCAGTAGCCAACTTGGAGTAGCTTGTAGTGGGGTTGGGGTAGGCCCCCTGGGCTCTGACCTTTTCTGAATTTTTTGATCTTTTCCTTTTGCTTTTTGAATAGAGACTCCATGGAGTTGGTCATGGAATGGGCTGGGCTCCTGGGCTGAACATGGACCACGCAGTTGCGACAGGAGGCCAGGGGAAAAACCCCTGCTCACTTGTTTGCCCTCAGGCAGCCAAAGCACTTTAACCCCTGCATAGGGAGCAGAGGGCGGTACGGCTTCTGGATTGTTTCACTGTGATTCCTAGGTTTTTTCGATGCCACGCAGTGTGTGCTTTTGTGTATGGAAGCAAGTGTGGGATGGGTCTTTGCCTTTCTGGGTAGGGAGCTGTCTAATCCAAGTCCCAGGCTTTTGGCAGCTTCTCTGCAACCCACCGTGGGTCCTGGTTGGGAGTGGGGAGGGTCAGGTTGGGGAAAGATGGGGTAGAGTGTAGATGGCTTGGTTCCAGAGGTGAGGGGGCCAGGGCTGCTGCCATCCTGGCCTGGTGGAGGTTGGGGAGCTGTAGGAGAGCTAGTGAGTCGAGACTTAGAAGAATGGGGCCACATAGCAGCAGAGGACTGGTGTAAGGGAGGGAGGGGTAGGGACAGAAGCTAGACCCAATCTCCTTTGGGATGTGGGCAGGGAGGGAAGCAGGCTTGGAGGGTTAATTTACCCACAGAATGTGATAGTAATAGGGGAGGGAGGCTGCTGTGGGTTTAACTCCTGGGTTGGCTGTTGGGTAGACAGGTGGGGAAAAGGCCCGTGAGTCATTGTAAGCACAGGTCCAACTTGGCCCTGACTCCTGCGGGGGTATGGGGAAGCTGTGACAGAAACGATGGGTGCTGTGGTCCTCTGCAGGCCCTCACCCCTTAACTTCCTCATACAGACTGGCACTGGGCAGGGCCTCTCATGTGGCAGCCACATGTGGCGTTGTGAGGCCACCCCATGTGGGGTCTGTGGTGAGAGTCCTGTAGGATCCCTGCTCAAGCAGCACAGAGGAAGGGGCAAGACGTGGCCTGTAGGCACTGTCTCAGCCTGCAGAGAAGAAAGTGAGGCCGGGAGCCTGAGCCTGGGCTGGAGCCTTCTCCCCTCCCCAGTTGGACTAGGGGCAGTGTTAATTTTGAAAAGGTGTGGGTCCCTGTGTCCTCTTCCAGGGGTCCAAGGGAACGGGAGAGGTCACTGGGCCTGTTTTCTCCCTCCTGACCCTGCATCTCCCACCCCGTGTATCATAGGGAACTTTCACCTTAAAATCTTTCTAAGCAAAGTGTGAATAGGATTTTTACTCCCTTTGTACAGTATTCTGAGAAACGCAAATAAAAGGGCAACATGTTTCTGTT)$ MPIPPPPPPPPGPPPPPTFHQANTEQPKLSRDEQRGRGALLQDICKGTKLKKVTNINDRSAPILEKPKGSSGGYGSGGAALQPKGGLFQGGVLKLRPVGAKDGSENLAGKPALQIPSSRAAAPRPPVSAASGRPQDDTDSSRASLPELPRMQRPSLPDLSRPNTTSSTGMKHSSSAPPPPPPGRRANAPPTPLPMHSSKAPAYNREKPLPPTPGQRLHPGREGPPAPPPVKPPPSPVNIRTGPSGQSLAPPPPPYRQPPGVPNGPSSPTNESAPELPQRHNSLHRKTPGPVRGLAPPPPTSASPSLLSNRPPPPARDPPSRGA|eqqrgaag* 11BR004 ENSG00000171475.14 ENSG00000172057.10 +/+ -/- chr17:40265146 chr17:39924220 CDS/splice-site 5'UTR/splice-site inversion 2 3 1 94 2398 medium in-frame . WH2_motif(100%)| . . ENSG00000171475.14 ENSG00000172057.10 ENST00000323571.9 ENST00000579695.5 downstream downstream . ^(ATTTTGTTCGCGGACGCTGGGGACGGTGGGAGCAGATCCATTTCCGGGTTGGCAAAAGGGGCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGACGGCGAGAAAGAGCTTGCCGGGGGGCGAGCAGGACAGGACGAAGCCGGAGTGTAGGCGGCAGAGGATTCGCTCCCAGAGCAGCTGCGGCCAG___GTATATGAATGACCTAAAGGTACAAATAAAGACGGAGAGAGAACAGTGCCAACTGGGAGCAGGGCAAGAATGCCAATTCCTCCTCCCCCGCCACCCCCACCTGGTCCTCCTCCACCTCCCACATTTCATCAG___GCAAACACAGAGCAGCCCAAGCTGAGTAGAGATGAGCAGCGGGGTCGAGGCGCCCTCTTACAGGACATTTGCAAAGGGACCAAGCTGAAGAAGGTGACCAACATTAATGATCGGAGTGCTCCCATCCTCGAGA___AGCCGAAAGGAAGCAGTGGTGGCTATGGCTCTGGAGGAGCTGCCCTGCAGCCCAAGGGAGGTCTCTTCCAAGGAGGAGTGCTGAAGCTTCGACCTGTGGGAGCCAAGGATGGTTCAG___AGAACCTAGCTGGTAAGCCAGCCCTGCAAATCCCCAGTTCTCGAGCTGCTGCCCCAAGGCCTCCAGTATCTGCCGCCAGCGGGCGTCCTCAGGATGATACAGACAGCAGCCGGGCCTCACTCCCAGAACTGCCCCGGATGCAGAGACCCTCTTTACCGGACCTCTCTCGGCCTAATACCACCAGCAGTACGGGCATGAAGCACAGCTCCTCTGCCCCTCCCCCACCACCCCCAGGGCGGCGTGCCAACGCACCCCCCACACCTCTGCCTATGCACAGCAGCAAAGCCCCCGCCTACAACAGAGAGAAACCCTTGCCACCGACGCCTGGACAAAGGCTTCACCCTGGTCGAGAGGGACCTCCTGCTCCACCCCCAGTCAAACCACCTCCTTCCCCTGTGAATATCAGAACAGGACCAAGTGGCCAGTCTCTGGCTCCTCCTCCTCCGCCTTACCGCCAGCCTCCTGGGGTCC)CCAATGGACCCTCTAGCCCCACTAATGAGTCAGCCCCTGAGCTGCCACAGAGACACAATTCTTTGCATAGGAAGACACCAGGGCCTGTCAGAGGCCTAGCACCTCCTCCACCCACCTCGGCCTCCCCATCTTTACTGAGTAATAGGCCACCTCCCCCAGCCCGAGACCCTCCCAGTCGGGGAGCAG|CAGAGAGGGGCAGCAGGATGAATGTGGGCACAGCGCACAGCGAGGTGAACCCCAACACGCGGGTGATGAACAGCCGTGGCATCTGGCTCTCCTACGTGCTGGCCATCGGTCTCCTCCACATCGTGCTGCTGAGCATCCCGTTTGTGAGTGTCCCTGTCGTCTGGACCCTCACCAACCTCATTCACAACATG___GGCATGTATATCTTCCTGCACACGGTGAAGGGGACACCCTTTGAGACCCCGGACCAG(GGCAAGGCGAGGCTGCTAACCCACTGGGAGCAGATGGATTATGGGGTCCAGTTCACGGCCTCTCGGAAGTTCTTGACCATCACACCCATCGTGCT___GTACTTCCTCACCAGCTTCTACACTAAGTACGACCAGATCCATTTTGTGCTCAACACCGTGTCCCTGATGAGCGTGCTTATCCCCAAGCTGCCCCAGCTCCACGGAGTCCGGATTTTTGGAATCAATAAGTACTGAGAGTGCAGCCCCTTCCCCTGCCCAGGGTGGCAGGGGAGGGGTAGGGTAAAAGGCATGTGCTGCAACACTGAAGACAGAAAGAAGAAGCCTCTGGACACTGCCAGAGATGGGGGTTGAGCCTCTGGCCTAATTTCCCCCCTCGCTTCCCCCAGTAGCCAACTTGGAGTAGCTTGTAGTGGGGTTGGGGTAGGCCCCCTGGGCTCTGACCTTTTCTGAATTTTTTGATCTTTTCCTTTTGCTTTTTGAATAGAGACTCCATGGAGTTGGTCATGGAATGGGCTGGGCTCCTGGGCTGAACATGGACCACGCAGTTGCGACAGGAGGCCAGGGGAAAAACCCCTGCTCACTTGTTTGCCCTCAGGCAGCCAAAGCACTTTAACCCCTGCATAGGGAGCAGAGGGCGGTACGGCTTCTGGATTGTTTCACTGTGATTCCTAGGTTTTTTCGATGCCACGCAGTGTGTGCTTTTGTGTATGGAAGCAAGTGTGGGATGGGTCTTTGCCTTTCTGGGTAGGGAGCTGTCTAATCCAAGTCCCAGGCTTTTGGCAGCTTCTCTGCAACCCACCGTGGGTCCTGGTTGGGAGTGGGGAGGGTCAGGTTGGGGAAAGATGGGGTAGAGTGTAGATGGCTTGGTTCCAGAGGTGAGGGGGCCAGGGCTGCTGCCATCCTGGCCTGGTGGAGGTTGGGGAGCTGTAGGAGAGCTAGTGAGTCGAGACTTAGAAGAATGGGGCCACATAGCAGCAGAGGACTGGTGTAAGGGAGGGAGGGGTAGGGACAGAAGCTAGACCCAATCTCCTTTGGGATGTGGGCAGGGAGGGAAGCAGGCTTGGAGGGTTAATTTACCCACAGAATGTGATAGTAATAGGGGAGGGAGGCTGCTGTGGGTTTAACTCCTGGGTTGGCTGTTGGGTAGACAGGTGGGGAAAAGGCCCGTGAGTCATTGTAAGCACAGGTCCAACTTGGCCCTGACTCCTGCGGGGGTATGGGGAAGCTGTGACAGAAACGATGGGTGCTGTGGTCCTCTGCAGGCCCTCACCCCTTAACTTCCTCATACAGACTGGCACTGGGCAGGGCCTCTCATGTGGCAGCCACATGTGGCGTTGTGAGGCCACCCCATGTGGGGTCTGTGGTGAGAGTCCTGTAGGATCCCTGCTCAAGCAGCACAGAGGAAGGGGCAAGACGTGGCCTGTAGGCACTGTCTCAGCCTGCAGAGAAGAAAGTGAGGCCGGGAGCCTGAGCCTGGGCTGGAGCCTTCTCCCCTCCCCAGTTGGACTAGGGGCAGTGTTAATTTTGAAAAGGTGTGGGTCCCTGTGTCCTCTTCCAGGGGTCCAAGGGAACGGGAGAGGTCACTGGGCCTGTTTTCTCCCTCCTGACCCTGCATCTCCCACCCCGTGTATCATAGGGAACTTTCACCTTAAAATCTTTCTAAGCAAAGTGTGAATAGGATTTTTACTCCCTTTGTACAGTATTCTGAGAAACGCAAATAAAAGGGCAACATGTTTCTGTTTC)$ MPIPPPPPPPPGPPPPPTFHQANTEQPKLSRDEQRGRGALLQDICKGTKLKKVTNINDRSAPILEKPKGSSGGYGSGGAALQPKGGLFQGGVLKLRPVGAKDGSENLAGKPALQIPSSRAAAPRPPVSAASGRPQDDTDSSRASLPELPRMQRPSLPDLSRPNTTSSTGMKHSSSAPPPPPPGRRANAPPTPLPMHSSKAPAYNREKPLPPTPGQRLHPGREGPPAPPPVKPPPSPVNIRTGPSGQSLAPPPPPYRQPPGVPNGPSSPTNESAPELPQRHNSLHRKTPGPVRGLAPPPPTSASPSLLSNRPPPPARDPPSRGA|aergsrMNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHNMGMYIFLHTVKGTPFETPDQGKARLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNTVSLMSVLIPKLPQLHGVRIFGINKY* 11BR004 ENSG00000035681.9 ENSG00000251396.7 -/- -/- chr8:58659573 chr8:60333003 CDS/splice-site intron duplication 6 0 0 23 13 medium out-of-frame . . . . ENSG00000035681.9 ENSG00000251396.7 ENST00000038176.8 ENST00000530725.6 upstream downstream . ^(ACGGTGCCGCCGGAGTCCCCACGCGAGGATGCTGCGGTGAGCGCGGCCGGGACGCCGCGTCGGGCTCTCGGCCGCCCAGCGGCGCCGCAGGGGAAGCCAGGCCGGCAGCCGCGCGCTCCCCAGCCGGCCACCAATCCCGCCCT)CCCCGGCTCCTCCGGACCTCCTCGGCAGGCGGCGGCGGGGCCTGCCTGTGCGCTCTGCGCCCGCCCGCGCCTACCCTCCATGGCGTTTATCCGGAAGAAGCAGCAGGAGCAGCAGCTGCAGCTCTACTCCAAGGAGAG|GAATATTTAGAAGAAGGAGCACAAGAAAGAGGACACCCTTAACAGAAAAGTTATTCATTTCCAAT___TTAAGACTCATCAAGGGATAAAATCTGAAAACTTATAAAGGATACTTATTACAG(AAAAAATTTAAGG___GGAAACTGGTGCTGTGGAGAGACCCATGTGGAAAGGAACTGAGGACTCCCGGCAAAAGTCACCAAGGACCGAGGTTGCTGACAGCTGCATGTGAACTCGGAAGCAGATCAATCCTTGCCCAAGCCCACACTTTGTCTACAGCCTTG___GGGAAGAAAGGGTGTGATATGTTTCCTCACCCATCATGAGGGTCACTGCCGATACTCCTGTGACAAAAGACAGACAG___GAGAGGGGATCTTACATGCTGCATGCAGCAGGAAGTCAGCAGCGATTTTTCATCAGGAAAGAGATATGATGTGAACTCTACCATTGATATCAAAGATGAGCAATGGAGGATGGAGTGTGGGCGCACTCGTCCAG___AAAGCTCATATCTCAAAAGATCTTCTGGCCTTCTTCCTATGACCTCAGCTCCATGATGGACCCGCTGATTACCTCTGTCACTCTTGAAAT___GAAGTCAGGGACCCCAAACGGAGGGACCGACTGAAGCCATGGCAGAAGAACGTGGATTGTGAAGATTTCATGGATATTTATTAGTTCCCCAAATTAATACTTTTATAATTTCTTATGTCTGTCTTTACTGCAATCTCTAAACATAAGTTGTGAAGATTTCATGGGCACTTATCACTTCCCCAATCAATACCCTTGTGATTTCCTATGCCTGTCTTTAATCTCTTAATCCTGTCATCTCGTAAGCCGAGGAAGATGTATGTCACCTCAGGACCCTGTGATAATTGCATTAACTGCACAAATTGTAGAGCATGTGTGTTTGAACAACATGAAATCTGGGCACCTTGAAAAAGGAACAGGATAACAGCAATGTTTAGGGAACAAGAGAGATAACCTTAAACTCTGACCACCAGTGAGCCGGGAGGAACAGAGCCATATTTCTCTTCTTTCAAAAGCAAATGGGAGAAATATCGCTGAATTCTTTTTCTCAGCAAGGAACATCCCTGGGAAAGAGAATATGCGCCTGGGGGTAGGTCTATAGATGACCCCCTGGGTGTGGCCGTCTTTTATGGTCTGTAGACTGTAGGGGTGAAATAGACCCCAGTCTCCCATAGCGCTCCCAGGCTTATTAGGAAGAAGAAATTCCTGCCTAATGAATTTTGGTCAGACCGGTTGCTCTCAAAACCCTGTCTCCTGATAAGATGTTATCAATGACAGTGGTGCCTGAAACTTCATTAGCAATTTTAATTTCGCCCTGGTCCTGTGGTCCTGTGATCTCGCCCTGCCTCCATTTGCCTTGTCATATTCTATTACCTTGTGAAGTGCTTGATGTCTGTGACCCACACCCTATT)$ MAFIRKKQQEQQLQLYSKEr|ni* 11BR004 ENSG00000171475.14 ENSG00000167914.12 +/+ +/- chr17:40265146 chr17:39966753 CDS/splice-site intron inversion/3'-3' 4 0 0 94 3 medium out-of-frame . WH2_motif(100%)| . . ENSG00000171475.14 ENSG00000167914.12 ENST00000323571.9 . downstream downstream . ^(ATTTTGTTCGCGGACGCTGGGGACGGTGGGAGCAGATCCATTTCCGGGTTGGCAAAAGGGGCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGACGGCGAGAAAGAGCTTGCCGGGGGGCGAGCAGGACAGGACGAAGCCGGAGTGTAGGCGGCAGAGGATTCGCTCCCAGAGCAGCTGCGGCCAG___GTATATGAATGACCTAAAGGTACAAATAAAGACGGAGAGAGAACAGTGCCAACTGGGAGCAGGGCAAGAATGCCAATTCCTCCTCCCCCGCCACCCCCACCTGGTCCTCCTCCACCTCCCACATTTCATCAG___GCAAACACAGAGCAGCCCAAGCTGAGTAGAGATGAGCAGCGGGGTCGAGGCGCCCTCTTACAGGACATTTGCAAAGGGACCAAGCTGAAGAAGGTGACCAACATTAATGATCGGAGTGCTCCCATCCTCGAGA___AGCCGAAAGGAAGCAGTGGTGGCTATGGCTCTGGAGGAGCTGCCCTGCAGCCCAAGGGAGGTCTCTTCCAAGGAGGAGTGCTGAAGCTTCGACCTGTGGGAGCCAAGGATGGTTCAG___AGAACCTAGCTGGTAAGCCAGCCCTGCAAATCCCCAGTTCTCGAGCTGCTGCCCCAAGGCCTCCAGTATCTGCCGCCAGCGGGCGTCCTCAGGATGATACAGACAGCAGCCGGGCCTCACTCCCAGAACTGCCCCGGATGCAGAGACCCTCTTTACCGGACCTCTCTCGGCCTAATACCACCAGCAGTACGGGCATGAAGCACAGCTCCTCTGCCCCTCCCCCACCACCCCCAGGGCGGCGTGCCAACGCACCCCCCACACCTCTGCCTATGCACAGCAGCAAAGCCCCCGCCTACAACAGAGAGAAACCCTTGCCACCGACGCCTGGACAAAGGCTTCACCCTGGTCGAGAGGGACCTCCTGCTCCACCCCCAGTCAAACCACCTCCTTCCCCTGTGAATATCAGAACAGGACC)AAGTGGCCAGTCTCTGGCTCCTCCTCCTCCGCCTTACCGCCAGCCTCCTGGGGTCCCCAATGGACCCTCTAGCCCCACTAATGAGTCAGCCCCTGAGCTGCCACAGAGACACAATTCTTTGCATAGGAAGACACCAGGGCCTGTCAGAGGCCTAGCACCTCCTCCACCCACCTCGGCCTCCCCATCTTTACTGAGTAATAGGCCACCTCCCCCAGCCCGAGACCCTCCCAGTCGGGGAGCAG|AAAAGAAAACTGAGGTCCCAAGAGAAGTGACTTTTCCAAGATCACACAGCAAGCTAGTGTGGAC MPIPPPPPPPPGPPPPPTFHQANTEQPKLSRDEQRGRGALLQDICKGTKLKKVTNINDRSAPILEKPKGSSGGYGSGGAALQPKGGLFQGGVLKLRPVGAKDGSENLAGKPALQIPSSRAAAPRPPVSAASGRPQDDTDSSRASLPELPRMQRPSLPDLSRPNTTSSTGMKHSSSAPPPPPPGRRANAPPTPLPMHSSKAPAYNREKPLPPTPGQRLHPGREGPPAPPPVKPPPSPVNIRTGPSGQSLAPPPPPYRQPPGVPNGPSSPTNESAPELPQRHNSLHRKTPGPVRGLAPPPPTSASPSLLSNRPPPPARDPPSRGA|ekktevprevtfprshsklvw 11BR004 ENSG00000224429.8 ENSG00000278477.1(28137),ENSG00000271850.2(56759) -/- ./- chr13:21330574 chr13:34291227 exon/splice-site intergenic duplication 1 3 0 831 10 medium . . . . . ENSG00000224429.8 . ENST00000434601.7 . upstream downstream . ^(TCATCCTGTCCTCACAATGGCTGGTGTGGAGACCCACAG___ACTTCATCCTTAGGACGGACCTTCAGGCACCCAGGCTGCCTACTGACCTCCCTGGCATGGGTGGGAACCGGGAGCTCGTTGGTAAGCAGGAGGATTCAGGACTATCGACTGAACCCCACCTCCTCTGTGGCACGCACCGTGCTGTGTCTTTGCAGTCATCATCTCATCACCTCTGCACAGGAAGATTATCTCCCCCATTTTGTGATGAGGAAATGGAGGCTCCAGGTG___GAAAGATGCAACCTGGGCCAGAGGCCCCTGGAGGTTGTGCCTGAACCCAGACAGATCACACAAACCTGAGCAGCCATTAGCCGCTGTGTGGGCTCCTTTGCACTGTGGGGCTGCTCCTGGG___)GATATTTACGTTGTGAACTGGTAAAATCTGAACTGCAGAATATCAgTTTCCAGACATTCTTCCTAGATGATGCCGTCTGCCACGG|AGTCACACACCATCAAGCATGACGACCTATAAGGATGTTTATGAGAAGGAGGCTGTAACTCATGGATAAGGGTCCTTCATTGAGATGCTCTGAACTTCTCAGAAAGG___AAGCAGACAGCATTCTAGATGTGGACGGCTTTCCCAAGATCACAG . 11BR004 ENSG00000103343.13 ENSG00000140740.11 +/+ +/+ chr16:3404648 chr16:21983088 CDS/splice-site CDS/splice-site deletion 0 3 0 41 387 medium out-of-frame . SCAN_domain(100%)|Peptidase_M16_inactive_domain(100%) . . ENSG00000103343.13 ENSG00000140740.11 ENST00000268655.5 ENST00000268379.9 downstream upstream . ^(AGCCCGTGCTCGCCGGTGTCGGGTCCTAAGTCCCTCGGTCTTGGGTTCCCGGAGAGGTGAGTCGGCTGCAGGTGGGTGCGGGGCGCCGGGCTGTTCGGGGTACCGGTGTCGCAGTCGCCAGTCCGAGCTCACACCGGGCGTGGAGTTCAGCTGCGCATCGGGTTGCGGCAGCTTCGCCAGGCCTGGGGCTGGCTGGGCCGCGGGGCCGCCCTGGAGGCCGGAGCCACTGGGCCTGCGGCGCCTCGGCAGCGAGCAGCCGCTTTGCTCGCGTGCAGGAGGCTGTTCGCTACCTCACACCCCCGGCTGGCGCTGTGGCCTCGCTTAGCTCTACCGTTTAGCACCCGGCGACATGCACCCGGTCGGTTTCCGCCAGGATGCGGGAGAGTTGGGGCAAGCTACCTGCGACAGCTTGAACTTTTCCTAGGGATTCCGCTCCACCCGCCGGTTAGAGCGTATTGCTCATTAAATCCGAGACCTGTGTGCTTGCTACTGAAATAAAAGAAGTATTTTTTCCCCAGAGTCCTTTTAGGACGTTATGACTTTTCTCCTTTGCAAGACTGCAAAAAACTGACAAGAAGACAAAACTCTTCCCACTCCCAGGGACCGCGTTGTCTTGAGTTTGGCTAGTAAAGGCTAGCAAGTGAGGCTTTGTCTCTGCATCCCGTTCCCCCTAACATCCTCAGAGAACCTTCGTTTCTAGAATCTTTCTAGTATTCAGAGACTTCTCCAGGGTCATGATCCCAAAGGCTTAACCCGTTTACAAGGAGAGAGTTGTCTCCTGACGCCCAAAATGGCAGCTAAAATGGAGATAACTTTAAGCTCCAACACTGAAGCTTCCTCCAAGCAAGAGAGACACATAATAGCCAAACTAGAAGAGAAACGGGGCCCTCCTCTGCAAAAAAACTGCCCAGATCCTGAGCTCTGCCGCCAGAGCTTCAGACGCTTTTGTTATCAAGAGGTGTCTGGACCCCAAGAGGCTCTCTCCCAGCTCCGACAGCTCTGCCGTCAGTGGTTGCAACCCGAGCTGCACACCAAGGAGCAGATTTTGGAGCTTCTGGTGATGGAGCAGTTCCTGACCATCCTGCCCCCGGAGATCCAGGCTCGGGTCAGGCATCGATGTCCAATGAGCAGCAAGGAGATTGTGACCCTCGTGGAAGATTTTCACAGAGCATCCAAGAAACCAAAGCAGTGG___GTGGCCGTTTGTATGCAGGGGCAAAAGGTGCTCTTGGAGAAAACTGGATCTCAGCTTGGAGAACAGGAACTGCCAGACTTTCAACCGCAGA)CTCCTAGGAGAGATCTCAGGGAGAGCTCTCCAGCAGAGCCTTCCCAGGCAGGAGCTTATGACCGGCTGAGCCCCCATCATTGGGAGAAATCCCCACTCCTCCAAGAACCAACCCCCAAATTGGCTGGGACAG|GCGGCAAAGAAGTTTGTTTCTGGCCAGAAGTCAATGGCAGCAAGTGGAAATTTGGGACATACACCTTTTGTTGATGAGTTGTAATACTGATGCACACATTACAGGAGAGAGCTGAACGTTCTCTCAGCCCAGAGCAGCAAACACATGAAAGTCAGAAGTCTCTAATATATCATTTGTCTTTTTTCCAGTGAGGTAAAATAAGGCATAAATGCAG(GTAATTATTCCCAGCTGACCTAAAGTCAATAAAACATTCTGTTTAAGTGTTTTTCTTACGTTTTTCTCAATGAGTTAATCAACAAGTATTTATTATGTGCTGATATCTTTGTTTTAGATGCTTTAAAGGAGACAGGAATATAATTATTGAGTATAGAAGCATCAGAAACTATTAAAATTAAGGCTAAGTGGCTATCGGGGTAAATAGTGCCAGATTACTATTGGTGGCGTTTAAGATGAAAGCAAGTTCAAAATTTGTCATTTTGGGTGTCAACAGCTAAATGGTCTGGTTTTTACCCCTGTTTTGCCTTTTTTGCAATAAAATTATTTCCAAAAAACATACATTTCCTATCAATCATA)$ MAAKMEITLSSNTEASSKQERHIIAKLEEKRGPPLQKNCPDPELCRQSFRRFCYQEVSGPQEALSQLRQLCRQWLQPELHTKEQILELLVMEQFLTILPPEIQARVRHRCPMSSKEIVTLVEDFHRASKKPKQWVAVCMQGQKVLLEKTGSQLGEQELPDFQPQTPRRDLRESSPAEPSQAGAYDRLSPHHWEKSPLLQEPTPKLAGT|ggkevcfwpevngskwkfgtytfc* 11BR004 ENSG00000285329.1 ENSG00000140740.11 +/+ +/+ chr16:3404648 chr16:21983088 CDS/splice-site CDS/splice-site deletion 0 3 0 41 387 medium out-of-frame . |Peptidase_M16_inactive_domain(100%) . . ENSG00000285329.1 ENSG00000140740.11 ENST00000575785.2 ENST00000268379.9 downstream upstream . ^(AACAGCTTCCGGCGTGACGCAGTAGAAAAGGTGGCGTGGCTGGCGATTCGTGTTCGTGAGGGCCTTTTCTG___GTGGCCGTTTGTATGCAGGGGCAAAAGGTGCTCTTGGAGAAAACTGGATCTCAGCTTGGAGAACAGGAACTGCCAGACTTTCAACCGCAGA)CTCCTAGGAGAGATCTCAGGGAGAGCTCTCCAGCAGAGCCTTCCCAGGCAGGAGCTTATGACCGGCTGAGCCCCCATCATTGGGAGAAATCCCCACTCCTCCAAGAACCAACCCCCAAATTGGCTGGGACAG|GCGGCAAAGAAGTTTGTTTCTGGCCAGAAGTCAATGGCAGCAAGTGGAAATTTGGGACATACACCTTTTGTTGATGAGTTGTAATACTGATGCACACATTACAGGAGAGAGCTGAACGTTCTCTCAGCCCAGAGCAGCAAACACATGAAAGTCAGAAGTCTCTAATATATCATTTGTCTTTTTTCCAGTGAGGTAAAATAAGGCATAAATGCAG(GTAATTATTCCCAGCTGACCTAAAGTCAATAAAACATTCTGTTTAAGTGTTTTTCTTACGTTTTTCTCAATGAGTTAATCAACAAGTATTTATTATGTGCTGATATCTTTGTTTTAGATGCTTTAAAGGAGACAGGAATATAATTATTGAGTATAGAAGCATCAGAAACTATTAAAATTAAGGCTAAGTGGCTATCGGGGTAAATAGTGCCAGATTACTATTGGTGGCGTTTAAGATGAAAGCAAGTTCAAAATTTGTCATTTTGGGTGTCAACAGCTAAATGGTCTGGTTTTTACCCCTGTTTTGCCTTTTTTGCAATAAAATTATTTCCAAAAAACATACATTTCCTATCAATCATA)$ MQGQKVLLEKTGSQLGEQELPDFQPQTPRRDLRESSPAEPSQAGAYDRLSPHHWEKSPLLQEPTPKLAGT|ggkevcfwpevngskwkfgtytfc* 11BR004 ENSG00000119688.21 ENSG00000133226.17 -/- +/+ chr14:74286067 chr1:24666875 3'UTR CDS translocation 1 1 0 33 41 medium stop-codon . ABC_transporter(100%),ABC_transporter_transmembrane_region_2(100%)| . . ENSG00000119688.21 ENSG00000133226.17 ENST00000356924.9 ENST00000323848.14 upstream upstream . ^(AGAGTCCCTCGGGTCTCAGGTCATGGCGGTCGCGGGGCCCGCGCCCGGAGCTGGCGCCAG___GCCCAGGTTAGATCTGCAATTTCTCCAGCGGTTCCTGCAGATACTGAAGGTTTTGTTTCCTTCTTGGTCATCACAAAATGCCTTGATGTTCCTGACCCTTTTGTGCCTGACCCTACTGG___AGCAATTTGTGATCTACCAGGTTGGCTTGATCCCCAGTCAGTACTATGGGGTCCTGGGAAACAAAGACTTGGAAGGGTTTAAGACTCTGACATTCCTGGCTGTCATGCTCATTGTTCTGAACTCCACG___CTGAAGAGCTTTGATCAGTTCACCTGCAACCTGCTGTATGTGAGCTGGAGGAAGGACCTCACTGAGCACCTTCACCGCCTCTACTTCCGGGGCCGTGCGTACTACACCCTCAACGTGCTGCGGGATGACATCGATAACCC___GGACCAGCGCATCAGCCAGGACGTGGAGCGATTCTGCCGGCAGCTCAGCAGCATGGCCAGCAAGCTCATCATCTCCCCGTTCACCCTCGTCTACTACACTTACCAGTGCTTCCAAAG___CACAGGCTGGCTCGGGCCTGTGAGCATCTTCGGGTATTTCATCCTGGGGACCGTGGTGAACAAAACTTTGATGGGCCCCATTGTGATGAAGCTGGTGCATCAGGAGAAGCTGGAGGGAGATTTTAG___GTTCAAGCACATGCAGATTCGGGTGAATGCGGAGCCTGCTGCTTTCTACAG___AGCTGGGCATGTGGAGCACATGAGGACAGACCGCAGGCTGCAGAGACTCCTTCAGACCCAGAGGGAGCTGATGTCCAAGGAGCTCTGGCTGTACA___TCGGCATCAACACCTTTGACTATCTGGGCAGCATCCTGAGTTACGTTGTCATCGCAATCCCCATTTTCAGCGGGGTCTATGGAGACCTGAGTCCCGCAGAGCTTAGCACCCTGGTCAGCAAG___AATGCCTTTGTGTGCATCTACCTCATCAGCTGCTTCACCCAGCTCATCGACCTGTCCACGACGCTCTCAGATGTGGCTGGCTACACGCACAG___AATTGGGCAGCTTCGGGAGACGCTTCTGGACATGTCCCTGAAGTCACAGGACTGCGAGATCCTGGGCGAGAGCGAGTGGGGCTTGGACAC___ACCCCCAGGGTGGCCAGCGGCAGAGCCAGCAGACACAGCATTTCTCCTTGAGCGGGTCTCCATCTCTGCCCCCTCCTCTGACAAACCCCTAATCAAGGATCTGAGCCTAAAGATCTCCGAGGGACAGAGCCTGCTCATCACAGGCAACACGGGCACTGGCAAGACCTCCTTGCTCCGGGTTCTGGGTGGCCTCTGGACGAGTACACGGG___GCTCAGTGCAGATGCTGACGGACTTTGGGCCCCATGGGGTGCTATTCCTGCCACAAAAGCCATTCTTCACTGACGGGACCCTTCGGGAGCAG___GTGATATATCCCCTGAAGGAGGTCTACCCCGACTCAG___GTTCTGCCGATGATGAGAGGATCTTGAGGTTCTTGGAATTGGCAGGCCTG___TCCAACTTGGTGGCAAGGACAGAGGGCCTGGACCAGCAGGTGGACTGGAACTG___GTATGATGTTCTGTCCCCGGGGGAGATGCAACGGCTCTCCTTTGCCCGACTCTTCTACCTGCAGCCGAAGTACGCAG___TGCTTGATGAAGCCACCAGTGCCCTGACAGAGGAAGTGGAGAGCGAGCTCTATCGCATCGGCCAGCAGCTGGGGATGACGTTCATCAGTGTGGGACATCGGCAGAGCCTTGAGAAG___TTTCATTCCTTGGTTCTGAAACTCTGTGGAGGAGGAAGATGGGAGCTGATGAGAATCAAAGTGGAATGAAGCTCTGGCTTTTGGAAGGAGAGCCACACTGTGGCGGGTCGGCGGCCCTCAGGAGAGACCAGGAGGACTGACAGCGAAGATCGAGCTCAGGTTCGCCACATAGATCCCGTGCAGGAGCCACATGGGTCCTGTGCAGGACCCCTAGCAGTGGTGGGCTGAGCCCAGGTCTAGGTTTCTGTGGGGGACACTGAATCTCCCAGTGTTCAGTCTCCCAGGACTCTGCTGCCTCAGCCAGAGCCTCCATATGCTTGAAGTGCTGATTACCTACAAATGATTTCAGATCATGTTTGCTAAAGAGAAAT)CTGGAAGTGTGAGATCTGTAAGAAATGAAAGAAATGACTCTTGaAGTCAAGAGATCTGGAAATCTTTTAATCAGTTAAATTGTGCAGCAATA|CGCCCCTCCTCCTCGACGGCGCAGGACTCCCACACCACCACCACGACGAAG(___GACTCCTTCTCCTCCCCCACGTCGGCGCTCACCTTCTCCTAGAAGATACTCTCCTCCAATACAGAGGAGATACTCTCCTTCTCCACCTCCAAAGAGAAGAACGGCTTCACCTCCTCCCCCTCCTAAACGAAGAGCATCACCATCTCCACCACCAAAGCGGCGGGTCTCCCATTCTCCACCTCCCAAACAAAGAAGCTCCCCAGTCACCAAGAGACGTTCACCTTCATTATCATCCAAGCATAGGAAAGGGTCTTCCCCAAGCCGCTCTACCCGGGAGGCCCGATCACCACAACCAAACAAACGGCATTCGCCCTCACCACGGCCTCGAGCTCCTCAGACCTCCTCAAGTCCTCCACCCGTTCGAAGAGGAGCGTCGTCATCACCCCAAAGAAGGCAGTCCCCGTCTCCAAGTACTAGGCCCATTAGGAGAGTCTCCAGGACTCCGGAACCTAAAAAGATAAAAAA___GGCTGCTTCCCCAAGCCCACAGTCTGTAAGAAGGGTCTCATCCTCCCGATCTGTCTCCGGGTCTCCTGAGCCAGCAGCTAAAAAGCCCCCAGCACCTCCATCCCCCGTCCAGTCTCAGTCACCGTCTACAAACTGGTCACCAGCTGTACCGGTCAAAAAGGCCAAAAGCCCAACACCGAGCCCATCACCGCCAAGA___AATTCAGATCAGGAAGGAGGTGGAAAGAAAAAGAAGAAAAAGAAGGACAAGAAACACAAAAAGGATAAGAAGCACAAGAAGCACAAAAAACACAAGAAGGAAAAGGCTGTGGCTGCAGCTGCTGCAGCTGCTGTGACCCCTGCAGCCATTGCAGCTGCCACAACCACATTAGCACAGGAAGAGCCAGTGGCAGCGCCAGAGCCGAAGAAG___GAGACTGAAAGTGAAGCTGAAGATAACCTTGATGATTTAGAAAAGCACCTGCGTGAAAAGGCCCTGAGATCAATGAGGAAGGCCCAAGTGTCCCCACAGTCTTAGGGGGAAATGTTTGTTATGATGTAAATTTTATTTGGTTTGTACGCAGTTCAATTTCAAAATTGCTAAAATGTGTTTGAGCTTTAGACTATAACATTTGTTGTAATAATTGCTAGGTTGAAGTTCAACATGTAAAAAAAGGGGGCATGGATTTACATTGCAAAAGGTGTCCACAGTGTATTAGTGACATTCTTTCATTGACAGCTGACATAATTCATTGAGTGAAATATTTTAAGCCAAAAAAAAATTCCCTTTTTAAAAAAGGGGGTTTAAATACTGTTGGCATTTTTATGGTTCCTTTAAATGCCCTAGCTATTCCCAGAGGGGTTTTTTTGTTTGTTTTTTTGGTTTTGATTTTCTTTTTGTTTTTCTTTCTTCTTCTTATTTTTTTCATTTGAGTCTTAGCTCCCATTTAAGTTATGCTTCTGACCTTGTATGGTCTGTAAGCTTGCCCAGAAATAAGACCACTGTTTTGAACTACCACAAAAGTATAAATGAATATTTTAATGCCACAATCTTTCCTGTTGCCTGTGGAGTCTCTGCTGAAATGAATCAGGATTCGAGCTCTAGGATGAGACAGAAAATGAAAGCATGTTGTTTGCCAGGACACTGTGGGTTTATATTGATGTGTAACAAGTTGATTTGGAACACTGGACTCTCATTCTGTTATTCTGGTTTTGTTTTTTTTGTTTTGTTTTTTTTCTTTTGTAAAGGCAATGAGCTAGTCCCAGAAAGGATCCTTCAGTTACATACAATTTGTTTAATGAAATGTCATGGCTCTGTTCATATTTTTGTCTTGTTCTTCCAATTGGTATATACAACTTTCAGAGCCTCTTGTATTTGGAAGGCTGGAAGGGCCCAGACTTTGGAATAGTGTCTTGGTTTCACTGTTTTTGTTTTGATTTTTTTTTTGTTTTGATTTTTTTTAAACTAAAGCTATATAAAGCTTGTGGATTAAACAGAATAAATTTCTAAATTTAAAAATTTTGCCACTCTTA)$ . 11BR004 ENSG00000175893.11 ENSG00000235448.3 -/- -/+ chr9:14690337 chr9:12768923 5'UTR/splice-site intron inversion/5'-5' 2 0 0 21 11 medium . . . . . ENSG00000175893.11 ENSG00000235448.3 ENST00000380916.8 . upstream upstream . ^(TCGCGGCTCCCGGGAGCTAAGCGAGACGGCGACGGCGGCAGTCGTCCCTCCCCACGCGGGCGCGCGGGCATGCGGACACCCACTCGGCCGGTCCAGGCCCTCAGGCTCCCGGAAGCGGAAGGGGAGAGCGGCCCGGCCTGGGCGGCGGCGCCGGAGGAGGCGGAGGTGGCGCGGCAGGA)GGAGGGGAAAGAGCTGCTGGtGGTCGGGAGAGCGGCGGCAGCGAGAGGCGAGCCAGCGGCGACG___AATGAAGAACTTTTTCACTTACTGCAGGATTTTCAGCTTCAGCAAGCAG|GCCTTCTGAAAAGAAGTTCTACTCATCCTTCCAAGCCTATAGAACCAAGGATAAGGAGAAGCTAGGAGCCT . 11BR006 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 11 0 30 31 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(4),low_entropy(1),mismappers(2),mismatches(1) CCCGCGCCATGGCCGGAGCTCCCGGGGCGCAGCGCTGACGGCGGCGGGGGGAGCGCGCCATGCCCAGCAGGACCGGCCCCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCG...CCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGC(CTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR006 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 6 9 0 25 26 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(4) GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGA(CCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11BR006 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 9 4 0 24 19 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream duplicates(1) GCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGG(AAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11BR006 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 10 0 24 50 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(3) GCGGCGGCGGCGGCaGCaGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCT(TGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR006 ENSG00000234869.1(29094),ENSG00000075240.17(43096) ENSG00000075240.17 ./+ +/+ chr22:46577290 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 2 9 0 12 29 high . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream duplicates(1) GGCTCCCGGGCGGGCGGCAGGCGTAGCGCGGCCGGGCGGCCGGCGAGGGGGGCGCCGCGGCGGGTGGATGAGAGTTGGCCCCGATATCCGCTCAGG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGGACAGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCATCATGGCCA(CAGGAGTCCAGGACTTTAACCGGACAGAGTTTGATCGACTGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC___AGGAGGAGCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 11BR006 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 5 4 0 693 39 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream duplicates(3),mismatches(2) ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCT)CTTGTCACTGAAGCAGAGAATATGAAATGCCTTCtATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACA(TCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 11BR006 ENSG00000129691.16 ENSG00000253650.1(44779),ENSG00000253123.4(186437) +/+ ./+ chr8:38128951 chr8:37140169 CDS/splice-site intergenic duplication 3 5 0 179 22 high out-of-frame . SPRY_domain(100%)| . . ENSG00000129691.16 . ENST00000545394.2 . downstream upstream duplicates(2) ^(CACAGCAACGCGCGCGAGAGAAGAGAGTATTCTCGCGAGAAGTCCAGGGGTGGCCGTGATGGCGGCGGCAGGAGCAGGACCTGGCCAGGAAGCGGGTGCCGGGCCTGGCCCAGGAGCGGTCGCAAATGCAACAGGGGCAGAAGAGGGGGAGATGAAGCCGGTGGCAGCGGGAGCAGCCGCTCCTCCTGGAGAGGGGATCTCTGCTGCTCCGACAGTTGAGCCCAGTTCCGGGGAGGCTGAAGGCGG___GGAGGCAAACTTGGTCGATGTAAGCGGTGGCTTGGAGACAGAATCATCTAATGGAAAAGATACACTA___ATCCTGTCTACCTTTCATGACCAACTACAGTTTTCATTGCAACGTCTGCCATCACAGTGGGAATACCTATTTCCTCCGGAAGCAAGCAA___ACTTGAAGGAAATGTGCCTTAGTGCTTTGGCCAACCTGACATGGCAGTCCCGAACACAGGATGAACATCCGAAGACAATGTTCTCCAAAGATAAG___GATATTATACCATTTATTGATAAATACTGGGAGTGCATGACAACCAGACAGAGACCTGGGAAAATGACTTGGCCAAATAACATTGTTAAAACAATG___AGTAAAGAAAGAGATGTATTCTTGGTAAAGGAACACCCAGATCCAGGCAGTAAAGATCCAGAAGAAGATTACCCCAAATTTGGACTTTTGGATCAG___GACCTTAGTAACATTGGTCCTGCTTATGACAACCAAAAACAGAGCAGTGCTGTGTCTACTAGTGGGAATTTAAATG___GGGGAATTGCAGCAGGAAGCAGCGGAAAAGGACGAGGAGCCAAGCGCAAACAGCAGGATGGAGGGACCACAGGGACCACCAAGAAGGCCCGGAG___TGACCCTTTGTTTTCTGCTCAGCGCCTTCCCCCTCATGGCTACCCATTGGAACACCCGTTTAACAAAGATGGCTATCGGTATATTCTAGCTGAGCCTGATCCGCACGCCCCTGACCCCGAGAAGCTGGAACTTGACTGCTGGGCAGGAAAACCTATTCCTGGAGACCTCTACAGAGCCTGCTTGTATGAACGGGTTTTGTTAGCCCTACATGATCGAG___CTCCCCAGTTAAAGATCTCAGATGACCGGCTGACTGTGGTTGGAGAGAAGGGCTACTCTATGGTGAGGGCCTCTCATGGAGTACGGAAAGGTGCCTGGTATTTTGAAATCACTGTGGATGAGATGCCACCAGATACCGCTGCCAGACTGGGTTGGTCCCAGCCCCTAG___)GAAACCTTCAAGCTCCTTTAGGTTATGATAAATTTAGCTATTCTTGGCGGAGCAAAAAGGGAACCAAGTTCCACCAGTCCATTGGCAAACACTACTCTTCTGGCTATGGACAGGGAGACGTCCTGGGATTTTATATTAATCTTCCTGAAGACACAGAGACAGCCAAGTCATTGCCAGACACATACAAAGATAAG|GTGGATGTAAAATGACAACGTGACTCTAAAAAATAGAAAAAACTTGGCCTGGGCATGCACGGAAAAACAAATATAAGGGGCTCAACAGGAACAAACTGCAAAATCCCAAGCTCTCTTCTATCTGCAGC...AAATTCCTAAGCACATTTCACCCATTGGTTTTGATCCTCAGCCAAGGCCGTCCACCTGCAAAAATTCCCCAACTATCACATTTCTACTGCTTTGGCTGATAACGAAGATAATTGTTTCATCCACTTTGTCAAAGCTGAAATGAAAAGAGG MTNYSFHCNVCHHSGNTYFLRKQANLKEMCLSALANLTWQSRTQDEHPKTMFSKDKDIIPFIDKYWECMTTRQRPGKMTWPNNIVKTMSKERDVFLVKEHPDPGSKDPEEDYPKFGLLDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILAEPDPHAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAARLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDK|vdvk* 11BR006 ENSG00000229155.1(8386),ENSG00000214146.3(104977) ENSG00000187097.12 ./- -/- chr3:193852395 chr14:73970125 intergenic CDS/splice-site translocation 2 4 0 31 14 high . . |GDA1/CD39_(nucleoside_phosphatase)_family(100%) . . . ENSG00000187097.12 . ENST00000334696.10 upstream downstream duplicates(2) TACGAAGTCACTTTGTGCCAGTGCCCCAGCAAGCTGCCACCATGGCTGCCAAGCCCTGTCACCCTTGCTGATCAGTACAGAGAGGGGCTCGCTGCGCTGGGTAGAGGAAGCAGGAAGTTTGCTGAACTCAGACGGAAGAAAAAGGATTCCTCTGGAGAATCCCAGCAG|TGTGTGATAACTTGGAAAACTTCACCTCAGGCAGTCCTTTCCTGTGCATGGATCTCAGCTACATCACAGCCCTGTTAAAGGATGGCTTTGGCTTTGCAGACAGCACAGTCTTACAG___CTCACAAAGAAAGTGAACAACATAGAGACGGGCTGGGCCTTGGGGGCCACCTTTCACCTGTTGCAGTCTCTGGGCATCTCCCATTGgGG(CCACGTACTTCCTTGGAGACCTGCATTTGCCAACACCTTTTTAAGGGGAGGAGAGAGCACTTAGTTTCTGAACTAGTCTGGGGACATCCTGGACTTGAGCCTAGAGATTTAGGTTTAATTAATTTTACACATCTAATGTGAACTGCTGCCTAACCACTCAAGAGTACACAGCTGGCACCAGAGCATCACAGAGAGCCCTGTGAGCCAAAAAGTATAGTTTTGGAACTTAACCTTGGAGTGAGAGCCCAGGGACAGGTCCCTGGAAACCAAAGAAAAATCGCATTTCAACCCTTTGAGTGCCTCATTCCACTGAATATTTAAATTTTCCTCTTAAATGGTAAACTGACTTATTGCAATCCCAAGACCCATCAATATCAGTATTTTTTTCCTCCCTATACAGTGCCCTGCCCACCCTTATCTGCACCCACCTCCCCTGAAAAAGAGAGAAAAAAAAAAACCTGGTTTTGCTTTCCATGTATAATTCAACAACGCAAAATGGGACCATGTCAGAATCTGTATGATCCTATTCTGTGTTAGCTCCAATCAGCCAGCTGAGAGCCATCCTAAATATTAATAGGATGAGAGAGTAACTCCTAACTGTGCATAAATTACAGCCTTAAGAAAGAAGGCCACCCGGTCTCTGGGGACATGTTTTGGGAGGGTGTGGCTGCCTCATATAGCCTACCTTTGCTTTAATCAGCATTTTATCAGTCAACTCTGGGATTAATGAACATATCCGACTTTATGGGTATGTGTATATTCAGTGCCAGTACCACCTCCCAGGCTAATGTGTTAACAGTGTTTTCTATGATTCTAAACTTGTTTTCTTTGTATTTCTAAGAAATACAACTAGGCCCTAACTTTTGGTCTGTGGTCAGAGGTCAGTGTCTGTGCTATTCCAGGATCTATTATTTCAGTTTGCCCTTTTATTCTCTCCGTTTGTAACAGTACCTTCCTGTCCTGGTCCCTGATCACTTTAGCTAATATCCTTTGAATTATTTATCTAGTTCAGAGTTTCCAATACCGTTCCTGACAAAACCCCACTTGGATTTGGTTGGCTCTCTCAGCCCACATCAGTACAGTGGACCAACATTTCCAGGGAGAACCATATTTAATGTCCCTCATGCTCTCTTTTTGAATCCAAGTGCTCAGAGCTCTTGACTGTGAATTATTTACCCCAAATTCATTATCTTGCACTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCTCAGGCTAGAGTGGAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCCCCAGGTTCAAGCGATTCTTGTTCTCAGCCTCCTGAAGAGCTGGGATTACAGGTGCCCACCACCATTCCTGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCAACTCCTGATCTCAATTGATCCACCCGCTTCCCAAAGTGCTGGGATTACAGGCATGAGACACCGCGCCTGGCCTTATCTTGCACTTTCAACATAATCATCCCTGCTTCTCATCTGCCCTGCAGTGCTCTTGGACCTGGAAGATCTCCCTGTGGTCTGGCCCCTTTGCCTTGGTTGTTAACCTCCAGCTTCTTTGCAGGAGTGTATTTCCCCAAAACTTGTGGCTTTCACAGTAGACTCCGTTTCCATCCTCTCTCTCACAAAGGATGTTAAGTATGCCTGGCCCTCACACAGTCCATGGGAAACCTTATTTTTAACATTACTCCATTGAGTCAATAAATATTTACCATCTGCTGTGTGCAAGTTACTAGGCAAATTTCTGTATCCTTGTCCCTAAAATTCTTGTCTTTAAATTCATTGTGGAATTTCTTTAGACTTCACACTGACTTTTATTACTAAGGTCACCTTTATACCAACTGCCTTCCTCAAAATGCTTATAATGAAATAACAGAATCTTGAGTTGGAAACAGCCCAAAGAAATAATCCAATGTTGTACTCAGTGCAGAATTCCCTAGAATTTCTAACAGGTTGTCATTCAGCTTCTGCTAAGCCATGTTCAAACAGCTTATTCCATTTGGAACTGCACTGATATTAAAAAAAATTCCTTATATTGAGCTGAAATCTACCTATCTTCTAAGTGGTCTTAGTTCTGCTCTAATCTCTCCTTCCAAAATCTTTGGATCTTTTGAAAAAAGTTCCTCCCAAGTTCTTTTATAAGTGACATGACTTTTAGACCCCTTCCCATCTTTGTCAACAAAAGTAGGGTGCCAGACCAGTCACAGAACACTAAATGTCATCCATGTTTCCTTCAGTAGAAACCAGCAGTTTTAAAAGAGGTAAGCTGTGTTCACTAAAGACTGTTCCAGCTTGACAAATGCAGAGATATAAGTCTCTGGTCTTTAATCACTGTGGGGGCCATTTTGTAAAACACACATACTGTCCAGCAGACTCCTTTGGTCATCCCAAATACCTCTGAACTCCAGGGAAGATGCATTCTAACTCCACGAACTTACCTATTTTGTTAACCTTGATTAGACCTTCTGGAGAAGTAACCAATTTGTCCATCTTAGGAGCAATTTGGAATGAGAGTTTTTATTTTTTTCTGTAACGCCCATCCTGCCTGCAGTAGACCCTTTGGGCTTAAGAGGTCCTACAGATTCTAATAGTTTCCTCTTTGTAGATGTGTTAACATATTTAAAATACTTAGGACATGGCCTGGTACGTGACAGATGGTGTTTAACATCATTGTCATATGAAGAACACTCTCTGTGGGCCAATGGAGGTGTGCCTTAAAATTCTTCATCTTGCCTGATTTTGTTTGCATAACTTCTGGAGAGTCTGTGTCCTCCTCATCTAGGCCACCTTTCCATTTTTTGTGAAAGATGACCTTGTCCCTGCAGTCTCCGCCAGGAGTCACACAGCTTTTCACAGCAGCTGCCATCTTTAATTCTTTTTCCTGAGATTCCAGCAAGGTTGTGACATTGTCACTTTTTTGTTCTAGACTCTTTTAAATTTTCTGCATTTGCCTGAAAAGCACCCCTGTAAGAATAGATTTCTCATGGCTCTAAAAATTATTCCCAAGAATACCTTACTTGGTTCAAAAGCAGACTGTTTCTCTTCATTTCATCTCAAATCAGACTTCTGGGCAAGATGTTCTTTAGAGTAAGCAAACCTACAACCTAAAAATCTCTTCAAGAGGCATCTCTGGTCTTGTGACGAGACCTCTTCAAAAACCCACAGTAAAACTCCCCTCCCTCCAGTTGGCCACCAGTCTGCCACCAAACATGAACAAATTCTGCTGCTAATCGGTTTCCCTTGTGATCTGGTTCCTGAGGTCTTCGGATCTGTGCAATGAATTATTTATTGTTTTATTAAACCGACAGTGGTGTCCCAGAGAGGAACCATAAATAAAATGGAAATCTGGTGCTGTGATAAAGTAATAACTAGCATTAATGAGACCTGGTTTTCCTTTCAGAAAGTCCAGTATACCTGTAACAAAGGTTAAAGCAATTTATATTTAATTTGCATTCTGATGTTAACATTTAAACAGCAATTCTAACAAAAATGCATCGAGTCTAATTCTTACCTCTATCAAAAAACAACTGTATAAATTTATGACCAACATTAAAACAAAAACAAAATGTAAATTTTCTCTTTAGAAATGATTAACTGGAAATGAGTGAGACAGCACCTTGTGGGTTTTTTAGTAATAAAAAGCTCTTTTCAACCAAATTGTAAGTCTTCCTTCGAAGTTTTTTCCTTTGGTCTGGCTAATATACGCTCCTCACAGCAAATTATCATTCATTATTTGGGTGCCACAGGCCCATTAAGCAAAGAAGAAAAAGAGAATTTTAATGTAAAGTAAGTTTATTAAATTAAATAAGATCTTGAAAATATGTATGATGGGTCCTGGGCAGGATGTTCTTTTTCATCAACGTAATCTTTCTTTAGGAGAGGAGTACTCATTTGCTTGCAAAGGCCATAATCTGTTCCTGGAGAAAAAATAAAAGTGAATGAAACTCTTAACACAGTAAGGTGAAGAAAATAATTATTGTAGATAATAATCACGTAGGTATTCTTCCCAAGTGTCCTTGTTTTATTTCAGCTAAAAAAAGAAAAATATACATACATATACACACGTTTTAGAGACAGGGTCTCACTCTGTTGACTGGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCCTAGGCTCAAGCAATCCTCCCTCCCCAGCCTCCTATAAAGTGCTGGGATTA)$ . 11BR006 ENSG00000267419.2 ENSG00000141968.8 +/+ +/+ chr19:19776994 chr19:6847998 exon/splice-site CDS/splice-site duplication 1 3 0 11 39 high . . |SH2_domain(100%),SH3_domain(100%) . . ENSG00000267419.2 ENSG00000141968.8 ENST00000591884.2 ENST00000602142.6 downstream upstream . ^(GTAGTCCTGCAGCCTTGTGGCCGAAGGGCTGGGACTGGCCATGAGATTACATGTCCTAGCATGCTCAGCCAGGCGCGCGCAGCTCTGCCCCTTCCTCCAGTGATGCGCACAGTCCCTGATCCCTGTGCACGCTGGGATTGTAGTCCTGCAGCCCTGCGATCACTTGCAGGTAACAAGAAAT)TTCAGCTTCCGGCATGATGGGCGAAGGCCCCCACCTTCAGCCTCGCTCCTCCATGCCTTCAGAGCTGTTCCGCCATGCAGACGGGGAGCCTGCCTGTTCTTTAACCTCTCCTACCTGATGGGAGAGGACAAGCTACCAGGACAGCTTGTCTCACCAAGAAATTGTGATACCGCATCCCCCAACGTGCTGGCTTCCTGACTTCCAAAGTTGCG|GTACGCAGGCCCCATGGAGCGGGCAGGGGCAGAGAGCATCCTGGCCAACCGCTCGGACGGGACTTTCTTGGTGCGGCAGAGGGTGAAGGATGCAGCAGAATTTGCCATCAGCATTAA___ATATAACGTCGAGGTCAAGCACATTAAAATCATGACAGCAGAAGGACTGTACCGGATCACAGAGAAAAAGGCTTTCCGGGG(GCTTACG___GAGCTGGTGGAGTTTTACCAGCAGAACTCTCTAAAGGATTGCTTCAAGTCTCTGGACACCACCTTGCAGTTCCCCTTCAAGGAGCCTGAAAAGAGAACCATCAGCAGGCCAGCAG___TGGGAAGCACAAAGTATTTTGGCACAGCCAAAGCCCGCTATGACTTCTGCGCCCGAGACCGATCAGAGCTGTCGCTCAAGGAGGGTGACATCATCAAGATCCTTAACAAGAAGGGACAGCAAGGCTGGTGGCGAGGGGAGATCTATGGCCGG___GTTGGCTGGTTCCCTGCCAACTACGTGGAGGAAGATTATTCTGAATACTGCTGAGCCCTGGTGCCTTGGCAGAGAGACGAGAAACTCCAGGCTCTGAGCCCGGCGTGGGCAGGCAGCGGAGCCAGGGGCTGTGACAGCTCCCGGCGGGTGGAGACTTTGGGATGGACTGGAGGAGGCCAGCGTCCAGCTGGCGGTGCTCCCGGGATGTGCCCTGACATGGTTAATTTATAACACCCCGATTTCCTCTTGGGTCCCCTCAAGCAGACGGGGCTCAAGGGGGTTACATTTAATAAAAGGATGAAGATGGA)$ . 11BR006 ENSG00000156675.16 ENSG00000147526.20 -/- +/- chr8:37899071 chr8:38772644 CDS/splice-site intron duplication/5'-5' 1 3 0 330 4 high out-of-frame . C2_domain(100%)| . . ENSG00000156675.16 ENSG00000147526.20 ENST00000330843.9 . upstream downstream . ^(GTGGAGGCCGCCAGTCGCGGCGATCTTCTCCTCGCTTCTGGAGTGTTATCGTCACCATGTCCCTAATGGTCTCGGCTGGCCGGGGCCTGGGGGCCGTGTGGTCCCCAACCCACGTGCAGGTGACGGTGCTGCAGGCGCGGGGCCTGCGGGCCAAGGGCCCCGGGGGCACGAGCGACGCGTACGCGGTGATCCAGGTGGGCAAGGAGAAGTACGCCACCTCCGTGTCGGAGCGCAGCCTGGGCGCGCCCGTGTGGCGCGAGGAG)GCCACCTTCGAGCTGCCATCGCTGCTGTCCTCCGGACCCGCGGCCGCCGCCACCCTGCAGCTCACCGTGCTGCACCGCGCGCTGCTCGGCCTCGACAAGTTCCTGGGCCGCGCCGAGGTGGACCTGCGGGATCTGCACCGCGACCAGGGCCGCAGGAAGACGCA|GTGCTGCTCCCCATGGATGAAGAGGAAACCAGGATGTGCAGCCAAGACCCGTCCTGACCCCTCATTGGGATCTGCCTCTCTGCAGAACCCACATGTGCCTCCTTCTCTTCACTGCATAACATGCCTTTGTGTGTCTGTACAGAATTTGCCTGACT MSLMVSAGRGLGAVWSPTHVQVTVLQARGLRAKGPGGTSDAYAVIQVGKEKYATSVSERSLGAPVWREEATFELPSLLSSGPAAAATLQLTVLHRALLGLDKFLGRAEVDLRDLHRDQGRRKTq|ccspwmkrkpgcaaktrpdpslgsaslqnphvppslhcitclcvsvqnlpd 11BR006 ENSG00000127720.8 ENSG00000246363.3 +/+ -/- chr12:82403130 chr12:89175274 CDS/splice-site intron inversion 1 2 0 6 5 high out-of-frame . Methyltransferase_domain(100%)| . . ENSG00000127720.8 ENSG00000246363.3 ENST00000248306.8 ENST00000549278.2 downstream downstream . ^(ATGTTTGCGCCACCTACAGCCTCGGAGGGTGAGCGTCATGGCGGCTTCTTGCCCTCTCCCGGTGACCCCGGACCTGCCCACGCTGCGTGCCAAGTTGCAGGGACTGCTGCAGTTCCTGAGGGATGCCCTGTCCATTTCCAATGCACATACCGTGGATTTCTACACAGAATCCGTGTGGGAGGAGCTGGTCGACTTGCCACCGGAGACAGTGCTGGCTGCGCTGAGGAAGTCAGCGTCGGAGACGGAGGCCCTGCCCTCAGAGACGCGCCCCCTAGTGGAAGCAGAGTGGGAAGCAG___GTATGACTGATTTTCCCAAAATATTTTGTGAAACTTCTCAGAAGTTGGTGAGTGTGGAAGCCTTTGCTCTGGCTGCGAAATACTATTCTGTACAAAACTTGGGAATATGTACTCCTTTTGAACAGTTGCTTGTAGCCCTTCGAGGAAATCAAAACCAGAGAATTG___GTGAAAATCAGAAGGCAGTTGAGTTTATGAATATGAAGAAATCTCATGAAGTTCAGGCAATGTCAGAGCTGATCAGCAGTATTGCTGACTACTATGGAATAAAGCAG___GTGATTGACTTGGGTTCCGGTAAAGGCTACCTAAGCTCTTTTTTGTCCTTGAAGTATGGCTTAAAAGTTTATGGAATTGATTCTTCAAATACCAATACTCATGGAGCTGAGGAGAGAAACAGAAAATTGAAGAAACATTGGAAACTCTGTCATGCTCAGTCAAGATTAGATGTCAATGGACTAGCATTAAAAATGGCAAAAGAAAGGAAAGTGCAAAATAAAGTTAAAAATAAAGCTGATACTGAGGAAGTGTTTAACAACAGTCCTACAAATCAAGAAAAGATGCCTACCTCAGCTATTTTGCCTGATTTTTCTGGCTCTGTAATTTCTAATATCAGAAACCAAATGGAAACCCTTCATTCTCAGCCACATCAAGAAGAAAATTTGTGTTTTGAAAATTCCTTTTCTCTTATAAACCTTTTGCCTATTAATGCTGTAGAGCCTACTTCTTCACAGCAAATACCCAACAGAGAAACATCTGAAGCCAATAAAGAGAGAAGAAAAATGACATCAAAGTCAAGTGAATCAAATATATATTCACCTTTAACCTCTTTTATCACTGCTGATTCAGAACTCCATGACATTATTAA)AGATTTGGAG___GATTGTTTGATGGTGGGTCTCCACACTTGTGGTGATCTGGCTCCAAATACTTTGCGAATATTTACCTCCAACTCTGAAATCAAGGGAGTTTGCAGTGTGGGTTGTTGCTACCACCTCTTATCTGAAGAATTTGAAAACCAGCATAAAG|GATGGAGCTTCCAGGATAGAGCTTCTTTTTTCCTCATGGCCTTGACCACCTAGAATGCCACTAGAATGGAGGTGAAACTGCG___GCCATATCCAGTAACAGAGTCTACTGCATCATATTAACTGATAAACCCAGGATGACAAGAGAAACATGGGACTCACTCTTCATTTGCATTGACTCCAGCTAAGAGCTTCAGTTTTCATGCTTTGCTTCAGAATTATTG(___TGGTCTGATGCAGAACTGAAAAGGCCAACACGAGAATCTTCAAGTACAATTGCCTGGGAATCCTGAGGTCTGGACAGCAACACCTGAATCTGAATCTCTTTTGGGTTGAATCATAAAAGAAAATAGTATGGAGAGATTTAAGGCCAGGCCTCTGGAGAAGG___AATTGATAAAATATGTGGTAGTACCTGCGCTACAGAACAGAATTCACTTGGAAGTTCTTGGCATATAGTAAGCACTCAGTAACTGTCAGTTATCGCTCTCATCTCTATGAAGACTGTATTTGACATGACATCATCTCCATAAGATTCCTGAACTCAACTTTATTTCCTCTTTTTTCCTTTAACCCCAATTTTCTAATACCAATTAGTAAGGTGGCTTCCTCTCCTTCTGGACTTGCTACTCCCAGAAGGAAATTAAATTACAAGTCTCTAATTCCCTAGGCATTCCCTTGTAGCCAAAGTCATTAATCAGTGGCTCATATTTAAAAAAATTGCTCTAGGCCTCTGGAGACTCTTTCTATGGCATAATAGATTTTCATTTGTTTCTCATCCCCTGAGTAGCTTTTAATTCAGGATGGATATTTGCCCTGCAATTTCTTTTATTCCCTGGATAATTTGAAAAGCCAGGGGAACAGTGTCACTTTGTCTTATCCCTTCCCTCTTTATTAGTCAGTCTGTTCTAACAAAATGTTGGTTGGTCCACGCTTTTCATGGAATGTCATGGTTAACTGATAAGCTGCCCCCAAACTCGGTATCCTGGTTTAATGTTATAATCATAATGCCCTCTGAGATCACTTAGAGAAAAGCTGAGGGTAGCAACTCTGTGGATTCTTATTTACCTTATGCGTTTGACATCTGCAATGATGTGCTTCTTTACCACCTCCCTCATCAAATTAAACTAAGAATGAAAACAGATGGGCTGGGAAGCCAGTGGATCAAAAGAAGGACCTGGGGGAAGCTCAGCTTGGGGACCGGCTTGCTCTTTGCCCTCACTATTTGTCAACTGGGAATCTCCTGGGTGCTCAGCTGTGCTGGAATCTCAG___ATGAGTAAATTGAAGCCCAGAAAGGCCAAGAAACTTGAACCATTTA___GGTGAAGAAGAGTGCTCACCAGATTCCCTTCTGGTCTGGAAAAAGAAATCCCTTCTTTTGTGGATGTCATCTCTACCATCTCTCGGTGAAAAATATTTCAAGAGAATCCTAAGATGGAGAGAGCATTGGAAGTCATCCGGCCCAATTCCCTTGTGCAATTCAAAGCTTCTTTGTAAG___AAAAATGCCCCCAGAAGTTTGTTTGCATCATGAAGATCAGATTTTGAGGATCCAGTCTGGCTCTTCCCTGTACAAAACATTCCTCACAAACAGAATATGGACAATTGTTAAATGTCAAAGGTAAAGTTATTGTGGGAACTCCTTCAAAAAGTTCAAGTGAGAGCCCATTCTATGAATGACCATTTACATCTAATTTTTTTCTGTGCTATGTTACTTATTCTGAAGTGGTTGATCCAATTCCTAAAAGGGAATATTTCATTACCTTTTATTTCCTATAGCATCCATTCTGACCCCTTTTCGGTTTAATTATTCCCTGATTCCAGTCTTCATTCACTCATTTATTTGAGGAATATTTATTGACCAACAACTATGCCAGGTCCCATTCTATGTGTAGGGACTATAAAGTTGAACAAGACAGAGGAGGTACTGGCCTCAGAATTTACATTCTAGTAGATGAGAAAGTAAAAATAAACACATGAAAACATGAATGAACCGGATATTGTAGACTGTGATAGGTGTAGTTTGGGTAAAGCACAGAGTGCAGTAGTAAAGATAAACTGCACTCAGAGTGGGGCTATTTTAGATGGAATGGAGATCTCTGAGGAAATGAAATTTGAGCTGAGACCTAAAAGGTCACCCAAGGACTCATGGGAAAACTCAGTTGTTTCTATCAAAATTTAGCTTCATGAACTCCAGGCCCTTGCAAATGATGGTTACCAGGTGAGAAATGTCTCACTGGCAACAGAGGTTGGCAGACCCAGCTCCAGTTCCATCCCAGCCAACATACCAATGTCATTAAAATAAGGCCATTCATCAAGGTGGAGACTATTACTAGAAACAAGCATTCTAAAGTGCCATTTGAGTGCCAGGCTCTCAACACTGGGCGTAGCACTGCTCCATGAGGCTTTTGAGAGCATATACTGAGGCATGACCAAAAAAATTAAGTCCCATGTAAGTGATGCAACTGCTCCCCAATTACTGTGGAAGTATCTGCAGACTAACTATTGTGCGTGTGTGTTTGTTTGCTTTAATGAATAAATTCAGTCAACCAACCATCTAGCTATTGACTAAATCCATTCTTTTTCTTCCAAAATGTCTATTGGCTGAAGTTTACTGGTTTTTATTTCTATTCGCATACGTAATTTTCTAAACCCCATTCTTATGGAACCTTCTCTAAGTTCCTCTCTATGGCCCTGTCCATGTTCATACGGATACACATAAAGACACAAATACACCAAACTAAGTTTAGAGCAGTCTGGTGCCTGCCTAAGACTTCAGCCTCATCTCCTGCTTCTACCCTCTTTAGTTTAGGAAAAACAGGTAACGTTGCTGAGTGCCAAGTATTGTGTTAGTAGCTTTGCATGCATTTTTTCATTTTATCTTCACAAGTTTCTTCTATCACCATGATCTGTATGTTTGACCATGGTGTTTCCTCCACCTGAAATTCCCTTGGTGCTCTGCCTGGGGAACTGTTACTCATTCTTCAAATCTCAACGGAATGATCTCCTCCTCTGGAAAGCTCTCCCTACTTCCCTAGGAAGAAGTAATCCCTTCCTCAGTTCTGCTTTGATTATAACTTTATAAGCACCTATCACTCTGCATGGTATTAGTTCACTGTCATGTCCATTTCCTCTATTGGGATGTAAATTGCTTATGGGTAATAATTAGGCTTTGAATCATTTTATGATCTGGCCTAAGACAGTGCTTGGCACATACTATAGGCTCATCAGATGATGGCTGAGTAGAATTAAATTGAATCAAGTTGAAGTTATACTTTGATGTTTATCAATTAACATGTGTAGTGTGTTAAATGGTGGTCACTGAAAACATACGTCTGCACCCTAATTCCTGGAACCTGTGAATATAACCTTACATGTTAAGAAGAAATATGACCTTAAATGGATATGGAGACAAGGAGCTTATCCTGGATTGTCTGAGAGGGCCCTAGATGCAATCGCATGTATTCTGATAAGTGGAGAGAAACAGAAGAGGAGGATGCAATGTGACCATGTAGGCAGAAGTTTGAATGGTGCAGCCACAAGCCAAGGAGCCCCTGGGGCCATCAGAAGCTGGAAGAAGCAAGGAATGGATTCCTTCCTAGTGTTTGGAAGGAGTGTGCACTTGCCAACACCTTGGTTTGAGACTTCTGGCCTCTGGAACTGTGACAGAATAAATATCTGTTGTTTTGAGCCACCCAATTGTTGCTAATTTGTTAAAGCAACCTTAGAAAATTAATATAGCATCCACAATAAAATTTCTCAAAATATATGTTCCTGTGAAATGGAAGAGTTCTAGGGATCTAGTAGCATATACGGAACCCAGATAAGTTATACAAGTTTTTCCCTGAAAGTCTTTTCAGATTCTTTAGCGGGCTAAGGTGCATTGTGAATCCCAAAAACTTTAGCGTTTTTCAGCATCTATTATCACATAATCCTTTCCCCACCCATGGAATTATATACTAAACTGTTTTTGTAGATGTTGATGTTCTGTAGAACAGAGTTTTGGGGTCTGTATGACTTAAGATCCTTCTACAATGGAACACAGTGAGGAGGGTATTCAGAGGAGTCATAGAGGGCATTGATCTTGCAATATATACTCAGGAAATTACCATGGGCAG)$ MAASCPLPVTPDLPTLRAKLQGLLQFLRDALSISNAHTVDFYTESVWEELVDLPPETVLAALRKSASETEALPSETRPLVEAEWEAGMTDFPKIFCETSQKLVSVEAFALAAKYYSVQNLGICTPFEQLLVALRGNQNQRIGENQKAVEFMNMKKSHEVQAMSELISSIADYYGIKQVIDLGSGKGYLSSFLSLKYGLKVYGIDSSNTNTHGAEERNRKLKKHWKLCHAQSRLDVNGLALKMAKERKVQNKVKNKADTEEVFNNSPTNQEKMPTSAILPDFSGSVISNIRNQMETLHSQPHQEENLCFENSFSLINLLPINAVEPTSSQQIPNRETSEANKERRKMTSKSSESNIYSPLTSFITADSELHDIIKDLEDCLMVGLHTCGDLAPNTLRIFTSNSEIKGVCSVGCCYHLLSEEFENQHK|gwsfqdrasfflmaltt* 11BR006 ENSG00000187097.12 ENSG00000227509.1(28735),ENSG00000230215.1(9580) -/- ./+ chr14:73971852 chr3:184537134 CDS/splice-site intergenic translocation 1 1 0 15 8 high out-of-frame . GDA1/CD39_(nucleoside_phosphatase)_family(100%)| . . ENSG00000187097.12 . ENST00000557325.5 . upstream upstream . ^(TTCCTTGTTCCTGGTCAACAAAGAAATGTGGAGTGTCTTGGCTGAATCCTCATACAGACAAGATCATTATGGTGCTGTTAGGTAGGACTTGTATCCAGATGTAAG___GTTGAAAAAGTGATATAATAAAGGAACCAAGGAGAAAATTCAGAAGGAAAGAAAAAATTG___GTCTCACTCTGTCACCGAGGCTGGAGTACAGTGGTGCAATCACAGCTCACGGCAGCTTCAAACTCCTGGGCTCAAGCGATCCTCCTGCCTCACCCTCCCGAGTAGCTGAGACTACAG___CCTCTGCAGGTGTGCGAGCAGGATTGCTTCTGCAACAAAAGCCTCCACCCAGCCACATCTTGGGAAAAGAATGGCCACTTCTTGGGGCACAGTCTTTTTCATGCTGGTGGTATCCTGTGTTTGCAGCGCTGTCTCCCACAGGAACCAGCAGACTTGGTTTGAGGGTATCTTCCTGTCTTCCATGTGCCCCATCAATGTCAGCGCCAGCACCTTGTATGGAATTATGTTTGATGCAGGGAGCACTGGAACTCGAATTCATGTTTACACCTTTGTGCAGAAAATGCCAG___GACAGCTTCCAATTCTAGAAGGGGAAGTTTTTGATTCTGTGAAGCCAGGACTTTCTGCTTTTGTAGATCAACCTAAGCAG___GGTGCTGAGACCGTTCAAGGGCTCTTAGAGGTGGCCAAAGACTCAATCCCCCGAAGTCACTGGAAAAAGACCCCAGTGGTCCTAAAGGCAACAGCAGGACTACGCTTACTGCCAGAACACAAAGCCAAGGCTCTGCTCTTTGAG___GTAAAGGAGATCTTCAGGAAGTCACCTTTCCTGGTACCAAAGGGCAGTGTTAGCATCATGGATGGATCCGACGAAG___GCATATTAGCTTGGGTTACTGTGAATTTTCTGACAG___GTCAGCTGCATGGCCACAGACAGGAGACTGTGGGGACCTTGGACCTAGGGGGAGCCTCCACCCAAATCACGTTCCTGCCCCAGTTTGAG___AAAACTCTGGAACAAACTCCTAGGGGCTACCTCACTTCCTTTGAGATGTTTAACAGCACTTATAAGCTCTATACACATAG___TTACCTGGGATTTGGATTGAAAGCTGCAAGACTAGCAACCCTGGGAGCCCTGGAGACAGAAG___GGACTGATGGGCACACTTTCCGGAGTGCCTGTTTACCGAGATGGTTGGAAGCAGAGTGGATCTTTGGGGGTGTGAAATACCAGTATGGTGGCAACCAAGAAG___GGGAGGTGGGCTTTGAGCCCTGCTATGCCGAAGTGCTGAGGGTGGTACGAGGAAAACTTCACCAGCCAGAGGAGGTC)CAGAGAGGTTCCTTCTATGCTTTCTCTTACTATTATGACCGAGCTGTTGACACAGACATGATTG___ATTATGAAAAGGGGGGTATTTTAAAAGTTGAAGATTTTGAAAGAAAAGCCAGGGAAG|AGTCTTACTCTCTCTCCAGGCTGAAGTACAGTGGC?CGATCTCGGCTCACTTGCAACCTCTGCCTCCTGGGTTCgAGCAATTATCCTGCCTCACAGCCTCCTAAGTAGCTGGGATTGCAGGGATGCACCACCATGCCCAGCTAgTTTTTGTgTTTTTAGTgGAG MATSWGTVFFMLVVSCVCSAVSHRNQQTWFEGIFLSSMCPINVSASTLYGIMFDAGSTGTRIHVYTFVQKMPGQLPILEGEVFDSVKPGLSAFVDQPKQGAETVQGLLEVAKDSIPRSHWKKTPVVLKATAGLRLLPEHKAKALLFEVKEIFRKSPFLVPKGSVSIMDGSDEGILAWVTVNFLTGQLHGHRQETVGTLDLGGASTQITFLPQFEKTLEQTPRGYLTSFEMFNSTYKLYTHSYLGFGLKAARLATLGALETEGTDGHTFRSACLPRWLEAEWIFGGVKYQYGGNQEGEVGFEPCYAEVLRVVRGKLHQPEEVQRGSFYAFSYYYDRAVDTDMIDYEKGGILKVEDFERKARE|esyslsrlkysg?isahlqplppgfeqlscltas* 11BR006 ENSG00000183853.18 ENSG00000185250.16 +/+ -/+ chr1:158086746 chr6:109411695 CDS/splice-site intron translocation/5'-5' 1 1 0 24 1 high out-of-frame . . . . ENSG00000183853.18 ENSG00000185250.16 ENST00000368173.7 . downstream upstream . ^(GGCGCCGTCGGAGGGAGAGTAGACGTCAGGCGGAGGGAGGGAGGCAGGCAGGCAGGGAGGCAGGGAGGGAGAGAGGGAAGGAAGAGAAGGGGAGAGAAAGGGGGAGCAAAGACCGAAAGAGACCCAGAGAGATACAGCTTGAGAGGAGAAATAATTAAAGGGGGAGGGCGACCAGGAGGAGAAAAAGGTCTGGGAGGAAAGAGAGATAAAGAGAATCGGAGGGCAGGGAAATGAGTTTGTGCGCGTGAGTGTGCGCGCGCGCGTGTGTGTGTGCAGGGGCGGGCGCGGGCGGGCGGGGGGCGGGCTCCCGGGCTCCCGGGCTCCCCTCCTCCCCAGCCCGCTCCTCTGGCTCGCTCGCCAACTCCGGGCCCCAGCCGCGGGCGGGCGCACGGCGGGCGGACAGCATGCTGAGCCTCCTCGTCTGGATCCTCACTCTCTCCGATACTTTCTCCCAAG___TCCCCCCAGAGGACACCAGGATTGACGGAGGCCCTGTGATTCTACTGCAGGCAGGCACCCCCCACAACCTCACATGCCGGGCCTTCAATGCGAAGCCTGCTGCCACCATCATCTGGTTCCGGGACGGGACGCAGCAGGAGGGCGCTGTGGCCAGCACG___GAATTGCTGAAGGATGGGAAGAGGGAGACCACCGTGAGC)CAACTGCTTATTAACCCCACGGACCTGGACATAGGGCGTGTCTTCACTTGCCGAAGCATGAACGAAGCCATCCCTAGTGGCAAGGAGACTTCCATCGAGCTGGATGTGCACC|ATTACAACAGTTCCAGGTAAAAAACAATGCTGGCACAAGGCTTCCAACCTATCCCATCTACTGACCTGGAGAATGAAAGTGTCCTGCCTGTGGGCCCGTTACAACAG___GGTAGCTCTGCTCTGCAGGAGCAGTCACAGAGCTATAACACCACTGGAGCTGTAACACTGCCTGTTCAATAAAGCTGTTTTCTTCTAAAAAGGAATTACCA MLSLLVWILTLSDTFSQVPPEDTRIDGGPVILLQAGTPHNLTCRAFNAKPAATIIWFRDGTQQEGAVASTELLKDGKRETTVSQLLINPTDLDIGRVFTCRSMNEAIPSGKETSIELDVH|hynssr* 11BR006 ENSG00000175416.15 ENSG00000175416.15 -/- -/- chr5:176416290 chr5:176416310 CDS CDS duplication 8 12 0 104 121 medium in-frame . Clathrin_light_chain(39%)|Clathrin_light_chain(100%) . . ENSG00000175416.15 ENSG00000175416.15 ENST00000310418.8 ENST00000310418.8 upstream downstream duplicates(1) ^(CCGCTCCTCCCGCCGCGGCGCCCGCACCGCAGTGACAGCCAGCCGGGCCCGGTGGCGGAGAGGAAGTGCGGTCCGCGCCAAGCCCGTCCCCGCCGACGCCGGCTCCCCCGCGGCTCGGGTGACAGCGTCGCGGCCGCC)GGACGCAGCGCGGGGCAGGCGCGGGCAGAGCCGAGCGCAGCGGAGGCTCCGGCGGAGGCGCGGGGAAAATGGCTGATGACTTTGGCTTCTTCTCGTCGTCGGAGAGCGGTGCCCCGGAGGCGGCGGAGGAGGACCCGGCGGC|GGCGGAGGAGGACCCGGCGGCCGCCTTCCTGGCCCAGCAGGAGAGCGAGATTGCAGGCATAGAGAACGACGAGGGCTTCGGGGCACCTGCCGGCAGCCATGCGGCCCCCGCGCAGCCGGGCCCCACGAGTGGGG___CTGGTTCTGAGGACATGGGGACCACAGTCAATGGAGATGTGTTTCAG___GAGGCCAACGGTCCTGCTGATGGCTACGCAGCCATTGCCCAGGCTGACAGGCTGACCCAGGAG(CCTGAGAGCATCCGCAAGTGGCGAGAGGAGCAGAGGAAACGGCTGCAAGAGCTGG___ATGCTGCATCTAAGGTCACGGAACAGGAATGGCGGGAGAAGGCCAAGAAGGACCTGGAGGAGTGGAACCAGCGCCAGAGTGAACAAGTAGAGAAGAACAAGATCAACAACCG___GATCGCTGACAAAGCATTCTACCAGCAGCCAGATGCTGATATCATCGGCTACGT___GGCATCCGAGGAGGCTTTCGTGAAGGAATCCAAGGAGGAGACCCCAGGCACAGAGTGGGAGAAGGTGGCCCAGCTATGTGACTTCAACCCCAAGAGCAGCAAGCAGTGCAAAGATGTGTCCCGCCTGCGCTCGGTGCTCATGTCCCTGAAGCAGACGCCACTGTCCCGCTAGGTGCCTGCTAGGTGCATGGCCACAGAGCATGGGCTGGGCCTGGGCACAGGAGGAGCAGCTGCTTTGGTCGGGGTGGAGACTCGCAGCAGCTGCTACCCACAGCCTATTCCACTCCTCCCCATCTCCAGGCGCTGGGAGGGGGGCCCTCACCCCATCACGCCTCGCTCCCTCCTGGCCCTCTGGTCCAGCCCCTCACGCCTCCTCTCAGTCTACTCAATTGTGACTGTCCCTCCTGATGTATTTTTTTTCTTGGCTTAAAGGGTGTGTTGTTGACTCTTTTTACACTTATTTATTATCATTCTCACTTCTCTGGAAGCCA)$ MADDFGFFSSSESGAPEAAEEDPAa|AEEDPAAAFLAQQESEIAGIENDEGFGAPAGSHAAPAQPGPTSGAGSEDMGTTVNGDVFQEANGPADGYAAIAQADRLTQEPESIRKWREEQRKRLQELDAASKVTEQEWREKAKKDLEEWNQRQSEQVEKNKINNRIADKAFYQQPDADIIGYVASEEAFVKESKEETPGTEWEKVAQLCDFNPKSSKQCKDVSRLRSVLMSLKQTPLSR* 11BR006 ENSG00000150667.8 ENSG00000137843.12(857),ENSG00000230778.1(3100) -/- ./- chr15:39600845 chr15:40278344 3'UTR intergenic duplication 9 4 0 693 23 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 . ENST00000350221.4 . upstream downstream duplicates(2) ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTT)ATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|CACTCCTGACCCTCGGCTCCCTTTGGAGAGATGGACCGAGCCTTTGCCTCCTGTGGAGGCCCCTGCCTTAGTGAGCCTCCGCCCTGCCCGTCCcACTGTGCTGGCTCCTG...CCTGGGCAGTGGGAGATCTCAGGAAGGAAGTGCGGGAATCCGTGTGGGAGCTGGAAGTTGCAAGATAATTTCATCCACCTCCCCACCCCCAGAACGAAAGCCCAGGCTCCCTGGTTTCCAGGCTCTGCTCCGTTCTTTTTGAACCCCAC . 11BR006 ENSG00000137801.11 ENSG00000137843.12(1582),ENSG00000230778.1(2375) +/- ./- chr15:39597132 chr15:40279069 3'UTR intergenic duplication 5 5 0 63 6 medium . . . . . ENSG00000137801.11 . . . upstream downstream duplicates(1) ATTCTTCAATTCAGTGTGCAAACATTATATAAAAATAGAAATACTAACTCTACAGGCAGTATTTCCTGATAAATTATTTAAATAGCATATCTACACAATCTGAGATATCTATTCCAATGGCA|CCCCAAGTGCAAACTGCTGCTTTCTGACCCTTGCTTGCTTATGTACTCCCTTTTCAACTGTGTTGAATTTTAATGACGTTTTTAGTGGTGTAGAAATGCAAGTATTTTGGCTTAACAGCATGAAGTCTGGGTTGCACATTGTATCAGAGGTGCTGTAATCTTTCCAGTATCTCTGATATACGGCTTTCTGGTTGAATGTCACCCTGGGCCCTCTTGACTGGATAAACAACCATGAG . 11BR006 ENSG00000168439.17 ENSG00000110011.13 +/+ +/+ chr11:64197976 chr11:64233908 intron CDS deletion/read-through 4 6 0 404 89 medium in-frame . TPR_repeat(100%),Tetratricopeptide_repeat(100%)| . . ENSG00000168439.17 ENSG00000110011.13 ENST00000358794.9 ENST00000355040.8 downstream upstream . ^(GAATTCCCCTCGGCCCTACAGGACCAAACGACCGGCGCGCTGAGAAAGGGTGTGCGGTTCCACTGAGGACGCCCAAGCGGGACAGCCGGGCCCGCCGCGGTGAGATCCCCGGCCTGTCCAGCCCAAGCCCAAGCGCCCTCGCGGTCACGTGGCATTTCCGGAACATTCAGAACCTAACAGCCAGGAGGCAGGAGGGCCGGGCCGAGGCCGGAGCGCTGGACAACGCGGGTAGCTGGCGCTCGAGGGACAGGCAGCTCCCACCGGCTAGGACCCCCATCCCGATGCGCGGGCGAAGGGCTGGGGCCCTGTGCCGCTGGCGATCCCGGGGACCGCCTGGAACTCGCGGCACTCGGGAGCGAGAGGGAAAGCAACCCAGAGGCCCCGCAGCCGCCGGCGACACAGCTACAGACCCCGACTGCAGCCGGTACTCCCATATATCAGGGGCGGGGCGAAACCCGGCCTTTTGAAGGGCAGCGATTTAAACCAATCAGCGCAAAGAGTTGGCAACCCTCCGCCCAATTGGAATCGCTCTCATTCTGAAGGCGGTTCCGACATGGAGTCCGGCAGCCCAATGGGAGAGGTGGAAATTTCCAGAACGATCAGAACCAATGGGCGCGGCCAGCGCGGCTACGATTGGCAGTGCAAAAGACCAATCCGTGTCGCAGAAGTTCGCTCCTCCCTCCATTCGTGGAGCCTGAGATGG___GTCAATGAGCTGAAGGAGAAAGGCAACAAGGCCCTGAGCGTGGGTAACATCGATGATGCCTTACAGTGCTACTCCGAAGCTATTAAGCTGGATCCCCACAACCACGTGCTGTACAGCAACCGTTCTGCTGCCTATGCCAAGAAAGGAGACTACCAGAAGGCTTATGAGGATGGCTGCAAGACTGTCGACCTAAAGCCTGACTGGGGCAAG___GGCTATTCACGAAAAGCAGCAGCTCTAGAGTTCTTAAACCGCTTTGAAGAAGCCAAGCGAACCTATGAGGAGGGCTTAAAACACGAGGCAAATAACCCTCAACTGAAAGAGGGTTTACAGAATATGGAGGCCAGGTTGGCAG___AGAGAAAATTCATGAACCCTTTCAACATGCCTAATCTGTATCAGAAGTTGGAGAGTGATCCCAGGACAAGGACACTACTCAGTGATCCTACCTACCGGGAGCTGATAGAGCAGCTACGAAACAAGCCTTCTGACCTGGGCAC___GAAACTACAAGATCCCCGGATCATGACCACTCTCAGCGTCCTCCTTGGGGTCGATCTGGGCAGTATGGATGAGGAGGAAGAGATTGCAACACCTCCACCACCACCCCCTCCCAAAAAGGAGACCAAGCCAGAGCCAATGGAAGAAGATCTTCCAGAGAATAAGAAGCAG___GCACTGAAAGAAAAAGAGCTGGGGAACGATGCCTACAAGAAGAAAGACTTTGACACAGCCTTGAAGCATTACGACAAAGCCAAGGAGCTGGACCCCACTAACATGACTTACATTACCAATCAAGCAG___CGGTATACTTTGAAAAGGGCGACTACAATAAGTGCCGGGAGCTTTGTGAGAA)GGCCATTGAAGTGGGGAGAGAAAACCGAGAAGACTATCGACAGATTGCCAA___AGCATATGCTCGAATTGGCAACTCCTACTTCAAAGAAGAAAAGTACAAGGATGCCATCCATTTCTATAACAAGTCTCTGGCAGAGCACCGAACCCCAGATGTGCTCAAGAAATGCCAGCAGaT|TGCACCTTAACTTCATGGATGAAAAGGATCGGATCATCACAGCCTTCTACAACGAAGCCCGGGCACGGGCCAGGTCTGTCCCTGCTCTATTCTGCTCCCTGCTCCCTGTCCAGGAACCACACTTCGGG(ATCCCTATCCCAACCACCCAGGTGCCCTCTCCTCCAGGGCCAACAGAGGCATCCTTCAGCAGGAGCGACAACGGCTAGGGCAGCGGCAGCCGCCACCATCCGAGCCAACCCAAGGCCCCGAGATCGTGCCCCGGGGCGCCGGCCCCTGA)$ MESGSPMGEVEISRTIRTNGRGQRGYDWQCKRPIRVAEVRSSLHSWSLRWVNELKEKGNKALSVGNIDDALQCYSEAIKLDPHNHVLYSNRSAAYAKKGDYQKAYEDGCKTVDLKPDWGKGYSRKAAALEFLNRFEEAKRTYEEGLKHEANNPQLKEGLQNMEARLAERKFMNPFNMPNLYQKLESDPRTRTLLSDPTYRELIEQLRNKPSDLGTKLQDPRIMTTLSVLLGVDLGSMDEEEEIATPPPPPPPKKETKPEPMEEDLPENKKQALKEKELGNDAYKKKDFDTALKHYDKAKELDPTNMTYITNQAAVYFEKGDYNKCRELCEKAIEVGRENREDYRQIAKAYARIGNSYFKEEKYKDAIHFYNKSLAEHRTPDVLKKCQQi|AP* 11BR006 ENSG00000141867.17 ENSG00000129354.11 -/- -/- chr19:15332290 chr19:10584070 5'UTR/splice-site CDS/splice-site deletion 0 7 0 1 461 medium . . |Adaptor_complexes_medium_subunit_family(100%),Clathrin_adaptor_complex_small_chain(100%) . . ENSG00000141867.17 ENSG00000129354.11 ENST00000360016.9 ENST00000590923.5 upstream downstream duplicates(2) ^(GACGTCAGTGCGCTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTGGGCTGTTTGTTCTGGTCTCCCGCAGCCGAGGAGCCGAAGCAGTGGCGGCGGCAGCGGCTGCGGCGGCTGCCGGCGGTGCCCGCGGGCGAGCGCGGCCTGTGAGCTCGGCAGAGCGGCGGGCGGGCCCCGGCGCCGCGCAGGCAGCTCGGGGAGGGGGCGGCGGCAGCGGGCG)GACGGCCGGCGGGGGCGGCGTGCGGCCTAGCGTCTCAG|CCATTGATCAGCCGCAACTACAAGGGCGATGTGGCCATGAGCAAGATTGAGCACTTCATGCCTTTGCTGGTACAGCGGGAGGAGGAAGGCGCCCTGGCCCCGCTGCTGAGCCACGGCCAGGTCCACTTCCTATGGATCAAACACAGCAACCTCTACT___TGGTGGCCACCACATCGAAGAATGCC(AATGCCTCCCTGGTGTACTCCTTCCTGTATAAGACAATAGAG___GTATTCTGCGAATACTTCAAGGAGCTGGAGGAGGAGAGCATCCGGGACAACTTTGTCATCGTCTACGAGTTGCTGGACGAGCTCATGGACTTTGGCTTCCCGCAGACCACCGACAGCAAGATCCTGCAGGA___GTACATCACTCAGCAGAGCAACAAGCTGGAGACGGGCAAGTCACGGGTGCCACCCACTGTCACCAACGCTGTGTCCTGGCGCTCCGAGGGTATCAAGTATAAGAAGAACGAGGTCTTCATTGATGTCATAGAGTCTGTCAACCTGCTG___GTCAATGCCAACGGCAGCGTCCTTCTGAGCGAAATCGTCGGTACCATCAAGCTCAAGGTGTTTCTGTCAGGAATGCCAGAGCTGCGGCTGGGCCTCAATGACCGCGTGCTCTTCGAGCTCACTGGCC___TTTCAGGCAGCAAGAACAAATCAGTAGAGCTGGAGGATGTAAAATTCCACCAGTGCGTGCGGCTCTCTCGCTTTGACAACGACCGCACCATCTCCTTCATCCCGCCTGATGGTGACTTTGAGCTCATGTCATACCGCCTCAGCACCCAG___GTCAAGCCACTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAG___GCCAAGGGGCAGTTTAAGAAACAGTCAGTGGCCAACGGTGTGGAGATATCTGTGCCTGTACCCAGCGATGCCGACTCCCCCAGATTCAAGACCAGTGTGGGCAGCGCCAAGTATGTGCCGGAGAGAAACGTCGTGATTTGGAGTATTAAGTCTTTCCCG___GGGGGCAAGGAGTACTTGATGCGAGCCCACTTTGGCCTCCCCAGTGTGGAAAAGGAAGAGGTGGAGGGCCGGCCCCCCATCGGGGTCAAGTTTGAGATCCCCTACTTCACCGTCTCTGGGATCCAG___GTCCGATACATGAAGATCATTGAGAAAAGTGGTTACCAGGCCCTGCCCTGGGTTCGCTACATCACCCAGAGTGGCG___ATTACCAACTTCGTACCAGCTAGAAGGGAGAAGAGATGGGGGCTTGAACACGGGGCTTCCTTACAGCCCCGGATGCAGATTTTAGAGGGAGGGCAGGTGCGGGCTGTGTGTGTCTGTGTGAGGGCAGGTCCTGGACTTGGCAGTTTCTTGCTCCCAGCACCCGCCCCTTCCTCACCTCTTCCTTATTCCATAGGCTGGGAGAGAAACTCTCTCTGCTTCCCTCGCCCTTGGAGCTTTCCCCATCCCCCTGATTTTATATGAAGAAATAGAAGAGGGGCTTGAAGTCCTCCTCGCGAGTGCCTTCTTGCAATTACCTGCCTTAGCGGGTGTTGCGGGTCCCTCCTTCACAGCCGCTGAGCCCAGAGGTCCCGCTGGCCCCTCCTCTGAATTTTAGGATGTCATTAAAAAGATGAATCTA)$ . 11BR006 ENSG00000228327.3 ENSG00000230699.2 -/- +/- chr1:733307 chr1:913191 exon/splice-site exon duplication/5'-5' 5 0 0 284 14 medium . . . . . ENSG00000228327.3 ENSG00000230699.2 ENST00000506640.2 . upstream downstream duplicates(2) ^(GTTCGGCTACATCACTGGGGCGCCATGGTGCCTGGAGCTGGGCAGTTTTCTCATCAGAGTGGGGACTGGTAAGAGTGACCTCCCCGCCAGGTTCTGTGTGTTGCCGGCTGAAGAAGGGTAGCTGAAAAATTCAGACCCAGCACAGTGTTTATGTTGGTCAAAAATAGAAAACTATGTCTGGCGCGGCCGAGGCGGGAGGACCCTTCAGGCCAAGAGCAGCCTAGCAACATGGCGCAACCCCATCTCTGTAGTCCTACCTCAGCCCCCCAGCTACTTGAACCCAAAGGTTCAAGGCTCCAGTGAGCTATGATCCCACCACAGCATTCCAGCCTGCGAGATTGAG___ATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCAGTCCCAGAACCCGCCAATGCTGGGGAACGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGACGCAACTCATCTGCCTCTGTCCCTCTGGGCACGCCTCATGCCAGGTGCATCTGTGGACAGGGGCCATGCTCCTGGGCTTCCAAAGTTGGAGAAAGCTGCCAGGCTCAG___GTCTGAAGGCCAGAATTCTACAGTAAGTCCTACTGAGTCAAGGTGGGAGCAGGGTCGGTAGCTTCCGAGGCTCTGCGGGAGAATCTGTTTCCTGGCCGTAGAGGTGGCCTGCACTCCTCAGCCTGTGCTGCCCGTCTCGAATGACTGGAGTTTCCTGCTTCTGTCACTACACCTCCCACCCTCTCCATCACCTGCTCTGCTCTTACAAGGATCCGA___AGAAATGGAATCATCGTATCGCTGATCTACGTAAACAAACTGAAGAATTGTCTGAAAGAAAATATG___ACATGAACTTATGAATTCAACAGGTGAAGATTTACAACTTGATAAATCAACTTTGTCAG___CTCGAGCTGTAAAAGCCAAAGGTCCGGTGATGATCCCATACCCTTTTTTCCAGTCTCATGTTGAAGATTTTTATGTAGAAGGCCTTCCCAAAGGAATTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCACTCTTATCGCCCAGGCTGGGGTGCAATGGCGCAACCTTGCTGGTCACTGCAACCTCTGCCTCCTGGGTTCAAGAAATTCTCCTGCCTTAGCCTCCCAAGTCACTGGGATTACAGGTGCCCACCACCACACCAGGCTAATTTTTGTATTTTTAGTGGAGATGCGGTTTCACCATGTTGGCCGGGCCAGTCTCGAACTCCTGACGTCAAGTGATCTTCCCGCCTCGACTCCTGATATCAAGTGATCTTCCCGCCTCGGCCTCCCAGAGTGCTGAGATTACAGACGTGAACCCATGCCTGGCCAGGAATTTTGTTTTTTAGGAAGGCTTTCTACTAATGGAATTCCTGGCCTTGAGAGGATGTTACTTTAGAAGGAAAGGATTTTTTTGTTATTAAAAG___AGCCACCTAAGCTGAAGATTCCCTTGAGAACAAGTACTGTCCCTAGTTTCCCAGTGCTGGAATATAGAAAATGGATGGACAAGTAAATCCCACTCAGCACCCATAGTCCAGGCATGGGGACCTCAACACACCTGAGCCCCAGACATCACCTTTCATT___CTGGACCTACCATGAAAGACTTCTGAATCCAGGAAGAGAAACTGACTGGGCAACATGTTATTCAG___AAACAGGACCTTGCCCTGTCACTCAGGATGGAGTTCAGTGGTCCTATCATGGCTCATTATAGCCTCAAACTCCCAGGCTCAAGCAATCCTACCATGTCAGCCTTCCCAGTAGCTGGGACTACAG___GCTGGAGTACAGTGGCACAACCTCTGCTCACTGCAGCCTCCACCTGCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG___GAAGTGAGCTCACAATGACTCAAGCTGCCACATACTGTTGATTGTGAAATGCCAGTTGAAGCATATGTCCTGCGAGCTTGGGGGTGCTACAAGTTGACCACTGCAGCAGTAAAGATGACTCTGAAGAATGGCGTGGGATGGTTCCTTTCAAATGCACTTGAGCAGCGGTCTCCAACCACAGGGCCACAGAGCTGGAG___CTGGATCTACCATGAAAGACTTGTGAATCCAGGAAGAGAGACTGACTGGGCAACATGTTATTCAGGTACAAAAAGATTTGGACTGTAACTTAAAAATGATCAAATTATGTTTCCCATGCATCAGGTGCAATGGGAAGCTCTTCTGGAGAGTGAGAGAAGCTTCCAGTTAAG___GGTCTCCCTCTGTTGTCCAAGGCTGGAGTGTAGTAGTGCTATCGCAGCTGACTGCAGCCTCAACCTTCCAGG)CTGAAGCGATCCTCCCACCTCAACCTCCCACGTGGCTGAGACTACAGGTGCTTGCCACTATGCCCAACTAACATTTGGAATTTTCGTATACGTGGATTCCAGAGGGGTGACAGCGAAAC___GTGGGACCATCCAGTTGCAGGAAAACAAGCTTAACACGCCCACTGATTCTACATTATG|GCACAGTTCACAGAGGCAGCTGCTTTGGGAAGTTTGGTGCCAGACCCCGCCAAGCCCCTGCCCGGGGCATCTCCTCCCGCACCCTTCGCCGCCATCTTTCAGACGGCTGCTCTCCTGAGCCAGGCC . 11BR006 ENSG00000228327.3 ENSG00000272438.1 -/- +/- chr1:733307 chr1:908382 exon/splice-site intron duplication/5'-5' 4 0 0 284 10 medium . . . . . ENSG00000228327.3 ENSG00000272438.1 ENST00000506640.2 . upstream downstream . ^(GTTCGGCTACATCACTGGGGCGCCATGGTGCCTGGAGCTGGGCAGTTTTCTCATCAGAGTGGGGACTGGTAAGAGTGACCTCCCCGCCAGGTTCTGTGTGTTGCCGGCTGAAGAAGGGTAGCTGAAAAATTCAGACCCAGCACAGTGTTTATGTTGGTCAAAAATAGAAAACTATGTCTGGCGCGGCCGAGGCGGGAGGACCCTTCAGGCCAAGAGCAGCCTAGCAACATGGCGCAACCCCATCTCTGTAGTCCTACCTCAGCCCCCCAGCTACTTGAACCCAAAGGTTCAAGGCTCCAGTGAGCTATGATCCCACCACAGCATTCCAGCCTGCGAGATTGAG___ATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCAGTCCCAGAACCCGCCAATGCTGGGGAACGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGACGCAACTCATCTGCCTCTGTCCCTCTGGGCACGCCTCATGCCAGGTGCATCTGTGGACAGGGGCCATGCTCCTGGGCTTCCAAAGTTGGAGAAAGCTGCCAGGCTCAG___GTCTGAAGGCCAGAATTCTACAGTAAGTCCTACTGAGTCAAGGTGGGAGCAGGGTCGGTAGCTTCCGAGGCTCTGCGGGAGAATCTGTTTCCTGGCCGTAGAGGTGGCCTGCACTCCTCAGCCTGTGCTGCCCGTCTCGAATGACTGGAGTTTCCTGCTTCTGTCACTACACCTCCCACCCTCTCCATCACCTGCTCTGCTCTTACAAGGATCCGA___AGAAATGGAATCATCGTATCGCTGATCTACGTAAACAAACTGAAGAATTGTCTGAAAGAAAATATG___ACATGAACTTATGAATTCAACAGGTGAAGATTTACAACTTGATAAATCAACTTTGTCAG___CTCGAGCTGTAAAAGCCAAAGGTCCGGTGATGATCCCATACCCTTTTTTCCAGTCTCATGTTGAAGATTTTTATGTAGAAGGCCTTCCCAAAGGAATTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCACTCTTATCGCCCAGGCTGGGGTGCAATGGCGCAACCTTGCTGGTCACTGCAACCTCTGCCTCCTGGGTTCAAGAAATTCTCCTGCCTTAGCCTCCCAAGTCACTGGGATTACAGGTGCCCACCACCACACCAGGCTAATTTTTGTATTTTTAGTGGAGATGCGGTTTCACCATGTTGGCCGGGCCAGTCTCGAACTCCTGACGTCAAGTGATCTTCCCGCCTCGACTCCTGATATCAAGTGATCTTCCCGCCTCGGCCTCCCAGAGTGCTGAGATTACAGACGTGAACCCATGCCTGGCCAGGAATTTTGTTTTTTAGGAAGGCTTTCTACTAATGGAATTCCTGGCCTTGAGAGGATGTTACTTTAGAAGGAAAGGATTTTTTTGTTATTAAAAG___AGCCACCTAAGCTGAAGATTCCCTTGAGAACAAGTACTGTCCCTAGTTTCCCAGTGCTGGAATATAGAAAATGGATGGACAAGTAAATCCCACTCAGCACCCATAGTCCAGGCATGGGGACCTCAACACACCTGAGCCCCAGACATCACCTTTCATT___CTGGACCTACCATGAAAGACTTCTGAATCCAGGAAGAGAAACTGACTGGGCAACATGTTATTCAG___AAACAGGACCTTGCCCTGTCACTCAGGATGGAGTTCAGTGGTCCTATCATGGCTCATTATAGCCTCAAACTCCCAGGCTCAAGCAATCCTACCATGTCAGCCTTCCCAGTAGCTGGGACTACAG___GCTGGAGTACAGTGGCACAACCTCTGCTCACTGCAGCCTCCACCTGCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG___GAAGTGAGCTCACAATGACTCAAGCTGCCACATACTGTTGATTGTGAAATGCCAGTTGAAGCATATGTCCTGCGAGCTTGGGGGTGCTACAAGTTGACCACTGCAGCAGTAAAGATGACTCTGAAGAATGGCGTGGGATGGTTCCTTTCAAATGCACTTGAGCAGCGGTCTCCAACCACAGGGCCACAGAGCTGGAG___CTGGATCTACCATGAAAGACTTGTGAATCCAGGAAGAGAGACTGACTGGGCAACATGTTATTCAGGTACAAAAAGATTTGGACTGTAACTTAAAAATGATCAAATTATGTTTCCCATGCATCAGGTGCAATGGGAAGCTCTTCTGGAGAGTGAGAGAAGCTTCCAGTTAAG___GGTCTCCCTCTGTTGTCCAAGG)CTGGAGTGTAGTAGTGCTATCGCAGCTGACTGCAGCCTCAACCTTCCAGGCTGAAGCGATCCTCCCACCTCAACCTCCCACGTGGCTGAGACTACAGGTGCTTGCCACTATGCCCAACTAACATTTGGAATTTTCGTATACGTGGATTCCAGAGGGGTGACAGCGAAAC___GTGGGACCATCCAGTTGCAGGAAAACAAGCTTAACACGCCCACTGATTCTACATTATG|GGAAACTTCCAAAGAACTGGCTGTGGCGGACACCCTATCTTTCTGGCTCTGTGACCTTCCCCTTCCAGCTGCTGCCCCCACCAGCCTGCACCCCTGTTCTGAGAGGCCATCCGCACCTCTCGGTGCCTGgCC . 11BR006 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 1 2 0 493 39 medium . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000561058.5 upstream downstream . GCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG . 11BR006 ENSG00000183826.18 ENSG00000146352.13 -/- +/+ chr6:38577600 chr6:123063674 CDS/splice-site CDS/splice-site inversion 0 2 0 17 4 medium in-frame . BTB/POZ_domain(100%),BTB_And_C-terminal_Kelch(100%),F5/8_type_C_domain(100%)| . . ENSG00000183826.18 ENSG00000146352.13 ENST00000481247.6 ENST00000275162.10 upstream upstream . ^(GCAGCAGCCGGGGCGGCGGCGAGGACGGCGGCCACGGAAGCGGCCAAGGGGGCGGTGGCGCAGAGAGGGGTGCGGAGCGGGCGGAAGAGGCGTCTGTGTCGCAGCTTGGTCTCAGAGGAGCATCGCTGGG___AACAACGACTATCGTCTATTCCACAAGATGAGTAACAGCCACCCTCTTCGCCCCTTTACTGCAGTGGGGGAAATTGATCATGTGCACATTTTGTCTGAACATATTGGTGCCTTGTTGATTGGGGAAGAATATGGCGACGTCACATTCGTGGTGGAAAAGAAACGTTTTCCTGCCCACAGGGTAATTTTAGCAGCCAGGTGCCAATATTTTCG___AGCATTATTATATGGTGGAATGCGAGAGTCTCAGCCTGAAGCAGAAATTCCTCTCCAAGACACCACTGCAGAAGCATTCACAATGCTACTCAAATATATCTACACTGGGCGGGCAACGCTGACAGATGAGAAGGAGGAGGTGCTGCTGGACTTTTTGAGCCTGGCTCATAAATATGGATTTCCAGAGCTAGAGGATTCTACCTCTGAGTATCTCTGCACCATACTTAACATTCAGAATGTCTGCATGACTTTTGATGTTGCCAGTCTCTACTCACTTCCCAAGTTAACTTGTATGTGCTGCATGTTTATGGATAGGAATGCTCAGGAAGTCCTCTCAAGTGAAGGTTTCCTCTCCCTTTCTAAG___ACAGCACTTTTAAACATCGTGTTAAGAGACTCATTTGCAGCTCCCGAAAAAGATATTTTCCTAGCCTTATTAAACTGGTGTAAGCACAATTCAAAGGAGAATCATGCTGAAATCATGCAGGCTGTGCGTTTACCTCTCATGAGCCTCACAGAGCTTCTGAATGTTGTGAGGCCTTCAGGACTGCTGTCTCCTGATGCCATCCTGGATGCCATTAAAGTGCGATCTGAGAGCCGGGATATGGACCTCAATTATAGAGGCATGCTCA___TACCAGAAGAAAACATTGCAACTATGAAGTATGGAGCCCAAGTTGTAAAGGGGGAGCTGAAATCAGCCTTATTAGATGGTGATACTCAAAATTATGATTTGGATCATGGATTTTCAAGGCACCCAATTGATGATGACTGCCGTTCCGGCATCGAGATTAAGCTAGGTCAGCCATCCATTATCAATCACATACGGATACTCTTGTGGGACCGAGATAGCCG___GTCTTACTCATACTTCATTGAAGTGTCAATGGATGAACTTGATTGGGTCAGAGTGATAGATCATTCACAATATCTGTGT)CGTTCTTGGCAGAAATTATATTTTCCAGCCCGTGTCTGCAG|ATCTCAATCAGTAGTGGATCCTACAGTACTAAAACGCATGGATAAAAATGAGGAAGAAAACATGCAACCATTGCTTTCTCTGGACTAATAACTTCTCTACATCCCCTTCATGGATTAGAAATGGAAAGTATTGGTTTTCAGCAACAGGGACAACACTGTAG(AGGAATTACCAGCTGGAAACCGACTTATTCATGTTAATGTAGCATAATATATAACAAGGCATCAGGCTTTCCTTGGCCTGAACCATGGGGGCCCTGGGCTGGATTTTTAAAATGTCAATAATTTATTCTGTAAGTGCCAAGTTGTTTGTAAATATAATGTAATCTTCATGTCAAGTTTGTAAATTTCAGTAGTAACTCAGTTTGGAAAAAGGTTGGCTCAAAAGTCCATGCCAGTGTTATGAACTATAACAAAAAGCAGAAAAGACACAGTCAAAGCTAATTAAATGTAGCCCTCTTTCCTATGAAGCCATATTTCAGCTCTCATAGTGATTGTTTCATTGTTTTTCTCTGAAACTCTGTCAGTATTCAAACATACTCTTAACGGGCACACACAACTAAGTGATTCCAGGAAATTTTATGATTAATGTATTTCCTGTCTAGTGATTTTCATTTCAGAGAAATGTGTCTTAGTAACTATCATTGGCCTTGCATTTTGGAGGCAAGGAATGGCAGATGAGCTGGTAAACTGAACACTTGAACTCTTCTATGTTGTTTAATTCTTGGAATCTTGTGAAAAGATGTGTTTCCTCAATTAAGACGTAGAAATGTAAAAAAGAGTGGATTCTTTTTAAATTGCTGTCTTCACAATGTGCCCTTTATTCAAGACCCTATTATATTTCTTCCTAATGTACTCTAAGTACATTTCCCCTCCAAAACTCTTTGACTAAGAGAATGAGAACTCATGTGAACAGTGTTCTGACAGCTAATTTTGAACATAAAATTTTCCACTTACAGATGAGGGGCTAATTTCTAATTGTTGTGCACTGGTTAAAAAGTATATATATATATATATTCACACATATATATTTTTACTGAGCTCTAATAAATCCTTAATGTGACAGGCTTATAAAATAAATCATAGATATTCAATGATCTTATGGATAATTACATGAGATAACTCTGGAAAACTACTTCCACTGAAGTTAATGAAAAGGAGAAATAGTGAAACTGACTTTCAGTGTACCTATTTAAAGGAATTCCAAGTTAATTTATAATGCAATCTTACATATGTGCCATCTTATTTGAACTATATTTTTCCTTCAAAGAAGCAATAGGTCTCAACATAGTGTAGGTAGCATCAGGTGACAGAAAGCCAATTTTATTTTCAAATTTAAGTTAATTATCTTCGTGATCCTATTTATCCACAATTTCTTTCAGAAAAGACTGAAAAAACACATTATATTCAGGAGATATAATGAAATTATTGGAAGGCATCTATGACAACATGTAATCATTTATACGTGGATTTAGAAATTTGCATATTTAACATTTTATTTCATAAAATTTATACAATTACAGCAAATCTTAATTTTTTAATTTTAAATTTCAATGTGAAAAAATGATTTTTATCACCCATAATAAATTTTGAGATTGAGAGTTTACCATTAAAGTATTCTTTTGGAAGAAAAATATCTCAGAAACTCTTGGAAACCAACAAAAATAAAGGCATGTGTCAGCCTTCATATTTTTTGGCCAAAAGCTCCCAAAATTTGTTATAATTCTGCAGCCAAAAATTGTAAAAGCAAGCTGAATACACCAATGTACAGTGTATCAATGGACTGCCTCATGTGTGTAAAAATACATTAATTAACACAAATGAAAGATACCTTAATAATGCCAACCTCCAGTCAAGTGCAGAAGAATAATGACTGTCAGGCACTCTGCTCTCCTTGTGACTTTTACAGAGATTGGAATGCACTGGGGACAACATGTCTCAGCAGTTCTTACCTTTATAAGAATTCTAACCATTGATATTCTTACATTCTTGCCTACCTGACATACATTTTGTAGCCATGGGCTTTTTAGACTATATAAATCTTAGGCAGTATAATCCATTGGAATAAAATAGAAACATTGTAAGTGCAGAGGGCAGTCAACTTTTCATTCTCATGAGTTTCTCTTGATGTGTACCATTTATTGCCAGTTTTCAGAATTCTGCCAGTTTCAGATGTCAACCAGCATTGGCAGCTTCTTTCCCCTATCGTAAAGTTAGTGTCATATATAAAAATAACTAGAAAGGCATATTTTATATGTATGCCTATCTAATTATAAGTATCATTCACACTGTCTCCCAGACCCACATTTGGAAAGTTTGCATTGCATTACTGCTCATCTTTAGATGAGCAATTGAGAGTTGGCTAGATTGTGTAAAATATTTTAAAATGAATGAACAAATTACAATGATGATGCCTTTTGAAATTACCATATCTAGTTCATTCTGTGAATAAACTCATTTTCTAGTAATGTTTGTGAACCTTAGTCAAGGGATATTCATTCAACTTTATAAATTTACCCCTCAGCACCAGCTATCTAGCACTGTTTAGGAATTTTTCCCTTCATGATATTCTGTGTCACATCCTATGTCTATGAATAACCTATACACTATAGTTGTATGCCTATAAGCACTCCTATACTCTTGTATTTTAATTGCAATAGTATACCTCCACTCTCTCTCTCTCTCTCATACACACACACACACACACTCTTACACACACACTAACACACTAGACTGTTTGCCCTAATGAATTTTCCTCTGTACTTCGAGAGCTATTTTAGTTGTCTTGTCACTTGAAATTTGCGGGCTTCAAAGAATTATCGCATTTGACTTGGAATGGTCCAGTAGTCCATTTACTTCTTTCACCCTGCCTGTTCCATCTTCTATTTCTGATATTTTTTCTTTCTTCCAGTTATTTCAGGGGCAGGTGATTCCAAAGCTGGTTTAAAAATAAATAACTTCTCTTATGTTGTCAGTGATGTTTGCCTGCATTTTTGACTACTATTTAAGAGGGAAGAGATTATCATGAAAATATACTCTAAGAAATATGAAGAAGTGCCTCTTTGAAAATGGAATAAAGCAACGTTACTGGCATATGGATTTTATTTGTACTCTCTTCCAAAAAGTAAATACGTAAATCTATATTATATAGGTGAAATATAGATATCATTTGAAGAAGGATATTTAAGGCCTTTATTTGAACATACTCATACAGTATTAAGTCTCTGTTGTGTAAGTTAAATACAGTAACTTTAGTACATGTTAATGATAAACGTGGCACTAGGCTAAAACGATATACGAGTATTAAACAGAGTTTTGCAAGCAAGTTTTTGAAGTGGGCATGCATGAATTCTTTCATTTCAGTAATGGTTTGCATAAGTGTAGACAGAGATATTTCCTAAGTTTTTTCATATAGAATACTTATTTACTTTATAGTACCAAAAATTCATACATTCATAAGCAGGAAAGCCAAAAATTCATACATTAATACTTAGCTTTTTTAATACTGTTAACTAGGTCATATTGTTAAACATGTGAAGCGTCTGTAATATTCCTGAGGGAAAAGAGGTCCCTCTATTGCATCAAGAAATTGGAGAGTTGTTTTAGACATTGGGGAATATGTTTATGACTCTTCACATAAAGAAACCTTCAGAGCCATGGAGTATGTCTTCAGGGACAGGGATCATTTGCTTCTACAATGTAAAGGTTTATGGACATATCTCTGGTCCTTTAAAGAAGTTACATTAAGAAAGCTTGCTGAGAGGCTGTACACTCTTCTGTTGTTTTATTTAAAGGTCTGCCTTGTGTGGTTGGTGAATAATATCTCAGCTTCTTTTTTTGTGTATATTTATTAATGATTACATGAAAAGTTGCCATCAGCCATGAGGACACTTCAAAAATTTTCAACACACTAAATAAAATGAGCAGAGCTCTAGCATGATATTTGAACTTTCAGATATGGTATATGTACATTTTTTACAACAATAAGCTCATAGGCATATATTCCATTGTAGATCTGCTATATAAATACATAGCCTGAAACATAGTAATGCATTTGAAATTTGTGAGGTCACTGATCATACAAGAAGAGGCAGATTATAAACCAACATATTGGAACAAAAGAAGATTGGTTAAATATGCAAGGTGTGTAATTATCTTCAGTAATGAAAAGGATTTGTTTTCTTGTTTTTGTCTTTGGTTTTAGTTGAAAAAATAGCTTCCCATATGCTACTGGAACTATTTGACATTATTTGCTACATGAAAAAAGGCAAATAAGTAAACATACAAAAGAAGCTTGGCTTTGTAACATTATTATATTATGATCTCAATGGCTTAGAGAATATAATCTTTTTTAAGAATTAAAGATTTTATTTTATAAATATTTGGAGGTTAACATAGGACATGAAAATAGTGCTGTGGATTCTGTTATGTACTAACTATGGGAATGAATTCTCCAGTACCATAGGAAAATATATAAGATAACAACTTTGTGGATTGAAACACTCAAATTAGCCTTTTTTTCAAGGAAGCAGGTGTACAAATGATGCTATTGAAATAAAAAAATGTAGAAATCACTTAATTATAGGAGTTAAATATAATCAATGCACTCATGGTAAATAATGGAAATTGTTAAAATTTAGAAGAGTTTTGTCATTATTTGACTTAGATTTAAGTCTCAGTGCAAATATGTCTGTCCTTGATATAGTGCATTTATTCTGTAAGACTTATTTTACCTGGTGAACGAGATGGACTTAGGTGAAAATAAATTTTAACCACAGTTTTAAGGGTCACCCAATCCTCAACTACTTTAAAAAATTGCAATGAATTTTAATTCATTTACTTTTAACAGAGATACAAAGCACTGTCTTGTTTCTAATCCAATTTTTCAATTTTTCAGATTTTATATTTGCTTAAACAATAAATAAAACTCAGAAAACCAAATAGTTTTTGTTTTCAAAGCTATCCAGGAAAAATAAAAGATGTCTAACAGGAAATCATACAAGTCCTTGAAGAATACTGAGTATATTATTTGCTATTTTACTCAAATGTTATTAATTTTTACTACTACAAACTACTTATTTAGTACTACACGGCATTTACTATTTGGCCTTTTGAAGGAGTTATAAATTCCAAAACACTATAATATAATTTTTGGACAAGTATACATTTCTGTTTAAAAGAAATGTATGCTTTTATTTTGTATATTTTATATTTTAAATGTATACATTTATTTTGCACATTGTTAATGTTAAATTTGGTAGTCCTGGATCTGCTGCATCTATAAAATGGAGATTTCTTTAAAAAATCGTCTAAAAATTAGCAATATTTTTATTTTGAGAGAAATTGTGCTTAGCTATTTAAGTTAAGATTCCTCAAGTTTGTGATATTTGTATGTGTGGGGATCAAAGAGGAAAATATATAGTAATTTGTTTCATCAAAATGACGTATTCAATATTCTATAACTTCTAGTCAAACTTTCAAATGAAAGTTTGAAAGAAGTAAACTAATGTTTTAATTACATATAGCAAAGGAATGATCAGTAAATAAAATAACTAGGGTTTTCACATTTGCAATAGAATGACTGGATTAGGCAAGAGATTAAATTTAGAAATTTGAATTACAGAAAAGCATTGGTTTAAATAAATCCTCAAAAAAGTAATCCCAGGTCAAAATATGATGTGAAATTAAAAAAAAAATTCAGCCTGATTTGAGAAAGAATGCTTACTCAATAAATATGTATTTGTGTCTTCTGTGAGTTTCCCTCATTTATCCTATCTGTGGATGAAAAGTCATCTAATAAGGTATAAGAGACTCAATTACATTTACCTAGAACCATCTACAAGTAGACTTCATGAATTTCTTTGGCTCAAACTCAGAGGATTTTCTTTACACAGGATTCTTGAGGTTATCAAGAATCGTTATTGCTGCTCCCTCCTAAAGGCAGGCCAGGAGAAGCCACATTTCCAGCAGTAGTATCCTCAGTGGGAATGAACCAGAAAACAAAGAAAAAGCCAGAGATATTGTCTCCACTCTCGTTACAAAAAAGTGCGTTCCTTCTTCAGGAGGATCGAGTAGAAAATATTTTCTACTCGAAGAGGCCATGGGGAAGTGATGGTCAAATCTCTGTTGTGAAGCAAGTTTCCACACAGAAACATCATCAAAAACACGTACCTCTGAGCATCACTTCTTTCTCTAAAAATAAAAATAAATATGCTGTTTTCCTCCCTTTTTTCTAATTGGCATCATAAAAGTATAAGAAGCCACAAATGCATTGTTGCCACTTAAGAAAAAAATCCTATGTTATACATATATGAACATAATTCACTTAGTTGCATATGATTGAAATATTTGCATGCTGGTTTATAAATTATTACCTAAAAGTTTTATGAAATATAATTATTAAGTTTTAGTGCTAGAAAAATTGTTGTTTTTTGTGTTTTGTATTCATAGGGAAGACTAGTAATATCCCTTACTCCTCATTCATATAGCTAACAATTTTAATTGGATGGCTAATGGATATGGCGGATTTAACATTTACAAAACCAAACTACTTTCACTCTGACCCTGCTTCCCCTTTAGCCTTCTCATCTCACTATGTGTCGACCCCAATCTTCCAGTTTCTAGGAATAAAAATTTTGGAGTCATCCTCTCTTTCCTTCCTCTTTTTCTTTCAAAACTACATCACATCAGCTAGCTCATGCTGTTGGGTCTTCAAAATATATCCACACTCTAACCACTTCTCCAATCTTCTTCACTGTATTGGACCAAGTCTTCAACATTTTCCATCTGGAATATTTTAATAATCTAAAAACTAGTCTTCTTGCTTCCAGAGTCAATTTTCAACACATTAGCAAGAGTGAGTCTCTTAAAATGTAACTCAGACCATTTTGTTCTCCAAACCCTCTGAAAGAGTAAAAGCCGATGTCTTTATATCAGTGTATGAGAAGTCTTGATATGAAGGCAGTAAGCACCAGTACAGCAACATAGCATGGTTTCTGATTGGGCTGGCATTTTTGCTGGTACTATGAAAAAATAGTTGTTAAATACTTTAATTTCTTGCTTCTGAAGTTCTCTACCCCGTTCTTGCCTTTTCTTAGATAATCTCTTAAGAATCTCTCCTTTATTTACTGCTGCCAAACTGTCATCTTTGCTGTTCCAGGAACTTGCTAAGCATGCCTCTACCTCAGGACTTTCGCATTTCTGTTCCCTTTGCCTCTAATTTCAGATATCCACGTGGTTTATTCCCTCATCTTCTTCAGGTATTTGCTTAAATGTCATCTTCTTTGTGAGGACTCTCTTTCCTAATTTTAGATGAAACAGCCCTGTGGTTCTTCATATTCTCCTTTCCTGCTGTATTTCCTCTCCATAGCATTTATCACCTGATACACCATACAGATTATTTATTTACTTTGCATTTCCCCCCAATAGCAATGTGAACTCCACAAGGGCAGGAATTTTTGTCTGTTTACTACTGCATTACTGGTGCCTTGTACAGTCCCTGGAACTTAACAAATCCAAAATGATTTCATGAGGATCCTAATTTGTTTCAGCAAGTTATGTAACGGCCAATAGTATGAATTGAAAGAGTTTCTTGTTGTCTTAATTTAAAAAATTTTGTTATTTATCTTCAAAGGGGAAATTTTACCCTCTCATGATAATAGAATCATGAATCAAAAATGATATCCTCTTCTCCCCAATTGTGATCTCTATCCCTGAGCCTAAGTTTTACATCAGTATTTCAGTTTTGTCTTTAGAAGTTACTCAACGATCACTGGACCCTATATCTATCCACATGGCTTACTCTTGGAGAGACTACAAGATAGCTCAGGGGAAAAGTCATTTTGAGATTAAAACTACATGGAATTGTTCTTTATGGATTATCATGGTTAATTTCAATTTTTAAAAATATGCAGGAAGTTAAAAGACTATAATTCCAGTATTGGAAGCCAGTTTAAGAGAATATGACTATGTAGTTACTTTTAATGGAAAGGGGAAGAAGAGGAAGAAAAAGGAAAGACATTGTGTTCGTATCTTCTCTGCAACAATTATAAAATGAATGAGGAAGTATTTTGGTGTTTCTAAGGTCTTTCCATGATCTTGAAATCTATATATTATAGTCATTTAGTCTGTGAACCATTTTAACAATTGGGTTTCATGTTACATATCTTTAAATTTTTATGTTGAAAATTTATAGCTGTGACACAAGATGATAGAAATTGCTCATGCTCACATATATTCCAACTGGCTTTTCAGCTTGCTCCCTTCTCTTTTAATTTCAGCTATCATTTTTAGAGCCTTACAGTCACAATTGTTCTTAACTATCCCAAATTTTTATTTCCTATTTGGACTGACTTCTCCATAATTTTAGTAACTAAATGACCTAGATATTGGTTCTTGTTGTGATAGGTTTCTGATTTGTATCCTTTGCAGTTTAACTTTTAATCCTTACCAAACATATGTTATTCCTTTTCTTCAGCTACATTGTTGTGCCTTTCCCAACACTGTAATAATTTAAGCCTCCTGTTTTATAATCTTCTATCAGAACATATATTAAGAAGACACTGAATTTAAAGAATCAGCAGGTGATGTTGAAGAAGAAATATAACCTGAAATATAAGAATAGATGTTTGAAACTGTTTCAGAAGTTAACCAGTCTTTTAGTGGCTTTGTAATGGGTAGGGGTTTTATTCCTCTTTGTGTGCTATGTAGGACATTGTTAACCAATATAGATTATGTTTCTTGTCAGTTACACAAGGATAGGTAATCAGGGTTAACAGTTCGGAAAACATTCTCTAGAGAAGAGACTAATGATTCTTGCTCACAAACAAGGCAGAATTTCCTTATGTTTCTTAATATTTGATCCTTGATAGTCTGTACAGTGGAAACCATTTCCCTCTGTGATATCCTTTTTTGCCAACCTATATGAATGTGTTTAGCGTCACTTCAGATATAGAGTTCAAGCTCAAGTATACACAGCACATGAAAGATCCTATAGTTCATGTTCTCTTAGGTTGAATTTTCTTTTCATAATTTTTTATGATTGAATTCTAAGGGTATGTTCCTTGGTAAATTGTGTTAATTATGTCCACTTTATAATGGATTTAACAATTTTACAAAGCAGATCATTGTTTATTATATTCTGAAAACCATTATATTAATATTTTATTTCTTTTTTTGCAGAGAAACTATTGTCTTTTTTGATTTCTGAGGATGAATGAAGTACTGTTAAATAAAATGTCACTAAATGAAACTTCA)$ MSNSHPLRPFTAVGEIDHVHILSEHIGALLIGEEYGDVTFVVEKKRFPAHRVILAARCQYFRALLYGGMRESQPEAEIPLQDTTAEAFTMLLKYIYTGRATLTDEKEEVLLDFLSLAHKYGFPELEDSTSEYLCTILNIQNVCMTFDVASLYSLPKLTCMCCMFMDRNAQEVLSSEGFLSLSKTALLNIVLRDSFAAPEKDIFLALLNWCKHNSKENHAEIMQAVRLPLMSLTELLNVVRPSGLLSPDAILDAIKVRSESRDMDLNYRGMLIPEENIATMKYGAQVVKGELKSALLDGDTQNYDLDHGFSRHPIDDDCRSGIEIKLGQPSIINHIRILLWDRDSRSYSYFIEVSMDELDWVRVIDHSQYLCRSWQKLYFPARVCr|SQSVVDPTVLKRMDKNEEENMQPLLSLD* 11BR006 ENSG00000141337.12 ENSG00000171658.8 +/+ +/+ chr17:68401450 chr3:185968479 CDS/splice-site exon/splice-site translocation 2 0 0 46 1 medium out-of-frame . C-terminal_region_of_aryl-sulfatase(100%),Sulfatase(100%)| . . ENSG00000141337.12 ENSG00000171658.8 ENST00000448504.6 ENST00000306399.3 downstream upstream . ^(GGCTGCGCCCAGGCCGGCGGGCCCAGCAGCTGCGAACCGCCGGCGCACCACCTGTTTCCGCGCCCGGGGACTTCCCCGGCGGGGCTCAGAAGTGTGGGATCGGTCGCTTGGCTTCCCCTGGCGTCAGCGACCCAGGGTAACCTCCTCCACTGCTGCGTGCCGTGCAGGCCTGCCTGTGTGAGAGCCACGTGTGCCGCGCTCTGGGCACAGCCTTGGAAAGTCAGGACCGCGACGGCAGCAGAGCA___GAAACCTTACAGAAACATGAAGCCCTCAACCATCTGCTACTCAGTTATTCGGGGCTGACGGCGGCTTCTAGAACATCCAGGTGTTCTGCAGATGCGAGAACTCATCCTGTAGTCACCAGATGGAGTCCCAAACAGCCAAGCAGATGTAAGGCCTGTGCTGTGGCTCTGAGGCCCTGAATACAGAAGGGTCACTTTCTTAGTGGCCAAAGAGCAGTTGTTGACATTGATGTCTAATTATTGAACACGACCAGTCATTTTACTGAGCTGCGGTGAGGAAACACTGACCATAGAAGATCAAGCCAAATGAGGGATTGCAAATTTCCTGATTCTTTTGAATTAGGATTCCAGATGGGGGCCTCATTTCTACAGCCCCCAACATTCCTATAGCCGTTATCACTGCCATCACCACTGCCACCAGCATCTTCTTGCAGATTCCACCCCTGCTCCCCAGAGACTTCCTGCTTTGAAAGTGAGCAGAAAGGAAGCTCTCAGAAAAATCTCTAGTGGTGGCTGCCGTCGCTCCAGACAATCGGAATCCTGCCTTCACCACCATGGGCTGGCTTTTTCTAAAGGTTTTGTTGGCGGGAGTGAGTTTCTCAGGATTTCTTTATCCTCTTGTGGATTTTTGCATCAGTGGGAAAACAAGAGGACAGAAGCCAAACTTTGTGATTATTTTGGCCGATGACATGGGGTGGGGTGACCTGGGAGCAAACTGGGCAGAAACAAAGGACACTGCCAACCTTGATAAGATGGCTTCGGAGGGAATGAG___GTTTGTGGATTTCCATGCAGCTGCCTCCACCTGCTCACCCTCCCGGGCTTCCTTGCTCACCGGCCGGCTTGGCCTTCGCAATGGAGTCACACGCAACTTTGCAGTCACTTCTGTGGGAGGCCTTCCGCTCAACGAGACCACCTTGGCAGAGGTGCTGCAGCAGGCGGGTTACGTCACTGGGATAATAG___GCAAATGGCATCTTGGACACCACGGCTCTTATCACCCCAACTTCCGTG___GTTTTGATTACTACTTTGGAATCCCATATAGCCATGATATGGGCTGTACTGATACTCCAGGCTACAACCACCCTCCTTGTCCAGCGTGTCCACAGGGTGATGGACCATCAAG___GAACCTTCAAAGAGACTGTTACACTGACGTGGCCCTCCCTCTTTATGAAAACCTCAACATTGTGGAGCAGCCGGTGAACTTGAGCAGCCTTGCCCAGAAGTATGCTGAGAAAGCAACCCAGTTCATCCAGCGTGCAAG___CACCAGCGGGAGGCCCTTCCTGCTCTATGTGGCTCTGGCCCACATGCACGTGCCCTTACCTGTGACTCAGCTACCAGCAGCGCCACGGGGCAGAAGCCTGTATGGTGCAGGGCTCTGGGAGATGGACAGTCTGGTGGGCCAGATCAAGGACAAAGTTGACCACACAGTGAAGGAAAACACATTCCTCTGGTTTACAG___GAGACAATGGCCCGTGGGCTCAGAAGTGTGAGCTAGCGGGCAGTGTGGGTCCCTTCACTGGATTTTGGCAAACTCGTCAAG___GGGGAAGTCCAGCCAAGCAGACGACCTGGGAAGGAGGGCACCGGGTCCCAGCACTGGCTTACTGGCCTGGCAGAGTTCCAGTTAATGTCACCAGCACTGCCTTGTTAAG___CGTGCTGGACATTTTTCCAACTGTGGTAGCCCTGGCCCAGGCCAGCTTACCTCAAGGACGGCGCTTTGATGGTGTGGACGTCTCCGAGGTGCTCTTTGGCCGGTCACAGCCTGGGCACAGG___)GTGCTGTTCCACCCCAACAGCGGGGCAGCTGGAGAGTTTGGAGCCCTGCAGACTGTCCGCCTGGAGCGTTACAAGGCCTTCTACATTACCG|GAGCTCAAGGTGGCTCTGTGGCCAGGGCAATTTTGGAGAGCAAAAAATTTGCAGTGAGAGCAGTGACCAGGG(ATGTGACTTGACCAAATGCCCTGGAGCTCCAGCGCCTTGGAGCTGAGGTGGTCAAAGGTGACCTGAATGATAAAGCATCGGTGGACAGTGCCTTAAAAGGTGTCTATGGGGCCTTCTTGGTGACCAACTTCTGGGACCCTCTCAACCAAGATAAGGAA___GGGAAGCTGGTGGCAGACTCCGCCAAGCACCTGGGTCTGAAGCACGTGGTGTACAGCGGCCTGGAGAACGTCAAGCGACTGACGGATGGCAAGCTGGAGGTGCCGCACTTTGACAGCAAGGGCGAGGTGGAGGAGTACTTCTGGTCCATTGGCATCCCCATGACCAGTGTCCGCGTGGCGGCCTACTTTGAAAACTTTCTCGCGGCGTGGCGGCCCGTGAAAGCCTCTGATGGAGATTACTACACCTTGG___CTGTACCGATGGGAGATGTACCAATGGATGGTATCTCTGTTGCTGATATTGGAGCAGCCGTCTCTAGCATTTTTAATTCTCCAGAGGAATTTTTAGGCAAGGCCGTGGGGCTCAGTGCAGAAGCACTAACAATACAGCAATATGCTGATGTTTTGTCCAAGGTTTTGGGGAAAGAAGTCCGAGATGCAAAG___ATTACCCCGGAAGCTTTCGAGAAGCTGGGATTCCCTGCAGCAAAGGAAATAGCCAATATGTGTCGTTTCTATGAAATGAAGCCAGACCGAGATGTCAATCTCACCCACCAACTAAATCCCAAAGTCAAAAGCTTCAGCCAGTTTATCTCAGAGAACCAGGGAGCCTTCAAGGGCATGTAG)$ MGWLFLKVLLAGVSFSGFLYPLVDFCISGKTRGQKPNFVIILADDMGWGDLGANWAETKDTANLDKMASEGMRFVDFHAAASTCSPSRASLLTGRLGLRNGVTRNFAVTSVGGLPLNETTLAEVLQQAGYVTGIIGKWHLGHHGSYHPNFRGFDYYFGIPYSHDMGCTDTPGYNHPPCPACPQGDGPSRNLQRDCYTDVALPLYENLNIVEQPVNLSSLAQKYAEKATQFIQRASTSGRPFLLYVALAHMHVPLPVTQLPAAPRGRSLYGAGLWEMDSLVGQIKDKVDHTVKENTFLWFTGDNGPWAQKCELAGSVGPFTGFWQTRQGGSPAKQTTWEGGHRVPALAYWPGRVPVNVTSTALLSVLDIFPTVVALAQASLPQGRRFDGVDVSEVLFGRSQPGHRVLFHPNSGAAGEFGALQTVRLERYKAFYIT|gaqggsvaraileskkfavravtrdvt* 11BR009 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 10 9 0 26 25 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismatches(3) GTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGC(CAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR009 ENSG00000082781.12(13901),ENSG00000173702.7(4176) ENSG00000082781.12 ./- -/- chr3:124901266 chr3:124873531 intergenic CDS/splice-site deletion/read-through 12 3 0 70 227 high . . |EGF-like_domain(100%),Integrin_beta_chain_VWA_domain(100%),Integrin_beta_cytoplasmic_domain(100%),Integrin_beta_tail_domain(100%) . . . ENSG00000082781.12 . ENST00000296181.9 upstream downstream inconsistently_clipped(2),mismappers(29),mismatches(1) CAGAGTCTCACCCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTCGACTCACTACAACCTCTGCCTCCTGGGATCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTACAG|GTCTCAACATATGCACTAGTGGAAGTGCCACCTCATGTGAAGAATGTCTGCTAATCCACCCAAAATGTGCCTGGTGCTCCAAAGAG___GACTTCGGAAGCCCACGGTCCATCACCTCTCGGTGTGATCTGAGGGCAAACCTTGTCAAAAATGGCTGTGGAGGTGAGATAGAGAGCCCAGCCAGCAGCTTCCATGTCCTGAGGAGCCTGCCCCTCAGCAGCAAGGGTTCGGGCTCTGCAGGCTGGGACGTCATTCAGATGACACCACAGGAGATTGCCGTGAACCTCCGGCCCG___GTGAC(AAGACCACCTTCCAGCTACAGGTTCGCCAGGTGGAGGACTATCCTGTGGACCTGTACTACCTGATGGACCTCTCCCTGTCCATGAAGGATGACTTGGACAATATCCGGAGCCTGGGCACCAAACTCGCGGAGGAGATGAGGAAGCTCACCAGCAACTTCCGGTTGGGATTTGGGTCTTTTGTTGATAAGGACATCTCTCCTTTCTCCTACACGGCACCGAGGTACCAGACCAATCCGTGCATTGG___TTACAAGTTGTTTCCAAATTGCGTCCCCTCCTTTGGGTTCCGCCATCTGCTGCCTCTCACAGACAGAGTGGACAGCTTCAATGAGGAAGTTCGGAAACAGAGGGTGTCCCGGAACCGAGATGCCCCTGAGGGGGGCTTTGATGCAGTACTCCAGGCAGCCGTCTGCAAG___GAGAAGATTGGCTGGCGAAAGGATGCACTGCATTTGCTGGTGTTCACAACAGATGATGTGCCCCACATCGCATTGGATGGAAAATTGGGAGGCCTGGTGCAGCCACACGATGGCCAGTGCCACCTGAACGAGGCCAACGAGTACACTGCATCCAACCAGATG___GACTATCCATCCCTTGCCTTGCTTGGAGAGAAATTGGCAGAGAACAACATCAACCTCATCTTTGCAGTGACAAAAAACCATTATATGCTGTACAAG___AATTTTACAGCCCTGATACCTGGAACAACGGTGGAGATTTTAGATGGAGACTCCAAAAATATTATTCAACTGATTATTAATGCATACAAT___AGTATCCGGTCTAAAGTGGAGTTGTCAGTCTGGGATCAGCCTGAGGATCTTAATCTCTTCTTTACTGCTACCTGCCAAGATGGGGTATCCTATCCTGGTCAGAGGAAGTGTGAGGGTCTGAAGATTGGGGACACG___GCATCTTTTGAAGTATCATTGGAGGCCCGAAGCTGTCCCAGCAGACACACGGAGCATGTGTTTGCCCTGCGGCCGGTGGGATTCCGGGACAGCCTGGAGGTGGGGGTCACCTACAACTGCACGTGCGGCTGCAGCGTGGGGCTGGAACCCAACAGCGCCAGGTGCAACGGGAGCGGGACCTATGTCTGCGGCCTGTGTGAGTGCAGCCCCGGCTACCTGGGCACCAGGTGCGAGTGCCAGGATGGGGAGAACCAGAGCGTGTACCAGAACCTGTGCCGGGAGGCAGAGGGCAAGCCACTGTGCAGCGGGCGTGGGGACTGCAGCTGCAACCAGTGCTCCTGCTTCGAGAGCGAGTTTGGCAAGATCTATGGGCCTTTCTGTGAGTGCGACAACTTCTCCTGTGCCAGGAACAAGGGAGTCCTCTGCTCAG___GCCATGGCGAGTGTCACTGCGGGGAATGCAAGTGCCATGCAGGTTACATCGGGGACAACTGTAACTGCTCGACAGACATCAGCACATGCCGGGGCAGAGATGGCCAGATCTGCAGCGAGCGTGGGCACTGTCTCTGTGGGCAGTGCCAATGCACGGAGCCGGGGGCCTTTGGGGAGATGTGTGAGAAGTGCCCCACCTGCCCGGATGCATGCAGCACCAAGAG___AGATTGCGTCGAGTGCCTGCTGCTCCACTCTGGGAAACCTGACAACCAGACCTGCCACAGCCTATGCAGGGATGAGGTGATCACATGGGTGGACACCATCG___TGAAAGATGACCAGGAGGCTGTGCTATGTTTCTACAAAACCGCCAAGGACTGCGTCATGATGTTCACCTATGTGGAGCTCCCCAGTGGGAAGTCCAACCTGACCGTCCTCAGGGAGCCAG___AGTGTGGAAACACCCCCAACGCCATGACCATCCTCCTGGCTGTGGTCGGTAGCATCCTCCTTGTTGGGCTTGCACTCCTGGCTATCTGGAAGCTGCTTGTCACCATCCACGACCGGAGGGAGTTTGCAAAGTTTCAGAGCGAGCGATCCAGGGCCCGCTATGAAATG___GCTTCAAATCCATTATACAGAAAGCCTATCTCCACGCACACTGTGGACTTCACCTTCAACAAGTTCAACAAATCCTACAATGGCACTGTGGACTGATGTTTCCTTCTCCGAGGGGCTGGAGCGGGGATCTGATGAAAAGGTCAGACTGAAACGCCTTGCACGGCTGCTCGGCTTGATCACAGCTCCCTAGGTAGGCACCACAGAGAAGACCTTCTAGTGAGCCTGGGCCAGGAGCCCACAGTGCCTGTACAGGAAGGTGCCTGGCCATGTCACCTGGCTGCTAGGCCAGAGCCATGCCAGGCTGCGTCCCTCCGAGCTTGGGATAAAGCAAGGGGACCTTGGCGCTCTCAGCTTTCCCTGCCACATCCAGCTTGTTGTCCCAATGAAATACTGAGATGCTGGGCTGTCTCTCCCTTCCAGGAATGCTGGGCCCCCAGCCTGGCCAGACAAGAAGACTGTCAGGAAGGGTCGGAGTCTGTAAAACCAGCATACAGTTTGGCTTTTTTCACATTGATCATTTTTATATGAAATAAAAAGATCCTGCATTTATGGTGTAGTTCTGAGTCCTGAGACTTTTCTGCGTGATGGCTATGCCTTGCACACAGGTGTTGGTGATGGGGCTGTTGAGATGCCTGTTGAAGGTACATCGTTTGCAAATGTCAGTTTCCTCTCCTGTCCGTGTTTGTTTAGTACTTTTATAATGAAAAGAAACAAGATTGTTTGGGATTGGAAGTAAAGATTAAAACCAAAAGAATTTGTGTTTGTCTGATACTCTCTGTGTGTTTCTTTCTTTCTGAGCGGACTTAAAATGGTGCCCCCAGTGGGGATTGAAGCGGCCGTGTACTTCCTCAGGGATGGGACACAGGCTGGTCTGATACTCCAGACTGCAGCTTGTCAAGTAAGCATGAGGTGCTCGGGGCAGTGAGGGCTGTGCAAGGGGGAACACTGAGCAGATACCTTTGGCCCCTTCCAGCTTTTACTGACAGAGAGTTCCAGGCTAGACACCATAAAAACCACCCCTTGTTCTGAGGGGCTGAGGCTGGAAATAGATTGTACAGACAAGCAAGGGTTGAGTGGTGGTTCCCACACGAAGTCATCTCTTAATCATCATTAGCAATAGCAGTTCCCTTCCAAGGCCTCCCCTCACTCCCGAAACACTTACGTCCCATGCAGGCCCAATGCAAAAAAACACATTTGAGCTTTTTTCCCGCAGGGCCATGAAGTCCCCTTAAGTTCCCATATCTAAGATGGTTGACTGACCCTCTCCCCTTATGTACAGAAGAGGAAACTGATTCTCAGAGAGGGGAAGTGGCTTGCCCGAGTGTTTGTTAGGAGGTTACTGAATGACAAACTGTTCCTAAGACCCCATCTCATGCTGGCCAGAGGGCCAGCCTCCTCATTCCTGCTTGCTCTTAGAAAATCTTTCACTGATCATTTTTTGTCACTGGAATAACTTCAAGGTTATTATGCTTTCATTCCAAATGGATCTGTCCTCAGCTCTGGACCCAATTCCCCTTACTTCATTTTGGCAAACACTAAGTCAAATAGTGAAATGCCTGTCACTACATAGAACCTATTACCTGGGGCAAATACGAACAGATTGAGTTTCCTTCATCTTGTGTAAATATGATGAAACAGAGACCTGGTAACTTGGTGACACTGTTAAACCCTTTTTGGGATAAAGCCAAATGTAAATGAAAACATTAAACAGATAAATTGTGGTGTTGAGACTTTTCTGAATTGAGAAAAATAAATGTAATTTTGGAAGAAA)$ . 11BR009 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 9 0 13 58 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) CCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGAC(CTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR009 ENSG00000123143.13 ENSG00000078053.17 +/+ -/- chr19:14452023 chr7:38539724 CDS/splice-site intron translocation 6 2 0 128 15 high out-of-frame . Hr1_repeat(100%)|BAR_domain(100%),Variant_SH3_domain(100%) . . ENSG00000123143.13 ENSG00000078053.17 ENST00000242783.11 . downstream downstream . ^(ACGTGACCAGGCCCGGCGGCCGCTGGGGCCGGAGGGCGCGGCGCGGGGACGCGGCGGCCTGGCCAGGCGAGGCGGGAGCCGAGCAGGCCGGAGCGGGCCGCGCGCCGGGGAGGGTCGCGCCGCGCCCGCCCCCTCCCCGCCACGCCCGGGGCGCACGCGCGCTCCTCTGGCCGCCCCTCCCTCCGCGCGGGGACCCCTGGCGGGCGGCAGGAGGACATGGCCAGCGACGCCGTGCAG___AGTGAGCCTCGCAGCTGGTCCCTGCTAGAGCAGCTGGGCCTGGCCGGGGCAGACCTGGCGGCCCCCGGGGTACAGCAGCAGCTGGAGCTGGAGCGGGAGCGGCTGCGGCGGGAAATCCGCAAGGAGCTGAAGCTGAAGGAGGGTGCTGAGAACCTGCGGCGGGCCACCACTGACCTGGGCCGCAGCCTGGGCCCCGTAGAGCTGCTGCTGCGGGGCTCCTCGCGCCGCCTCGACCTGCTGCACCAGCAGCTGCAGGAGCTGCACGCCCACGTGGTGCTTCCCGACCCGGCGGCCACCCACG___ATGGCCCCCAGTCCCCTGGTGCGGGTGGCCCCACCTGCTCGGCCACCAACCTGAGCCGCGTGGCGGGCCTGGAGAAGCAGTTGGCCATTGAGCTGAAGGTGAAGCAGGGGGCGGAGAACATGATCCAGACCTACAGCAATGGCAGCACCAAG___GACCGGAAGCTGCTGCTGACAGCCCAGCAGATGTTGCAGGACAGTAAGACCAAGATTGACATCATCCGCATGCAACTCCGCCGGGCGCTGCAGGCCGGCCAGCTGGAGAACCAGGCAGCCCCGGATGACACCCAAG___GGAGTCCTGACCTGGGGGCTGTGGAGCTGCGCATCGAAGAGCTGCGGCACCACTTCCGAGTGGAGCACGCGGTGGCCGAGGGTGCCAAGAACGTACTGCGCCTGCTCAGCGCTGCCAAGGCCCCGGACCGCAAGGCAGTCAGCGAG___GCCCAGGAGAAATTAACAGAATCCAACCAGAAGCTGGGGCTGCTGCGGGAGGCTCTGGAGCGGAGACTTGGGGAGCTGCCCGCCGACCACCCCAAGGGGCGGCTGCTGCGAGAAGAGCTCGCTGCGGCCTCCTCCGCTGCCTTCAGCACCCGCCTGGCCGGGCCCTTTCCCGCCACGCACTACAGCACCCTGTGCAAGCCCGCGCCGCTCACAG___GGACCCTGGAGGTACGAGTGGTGGGCTGCAGAGACCTCCCAGAGACCATCCC)GTGGAACCCTACCCCCTCAATGGGGGGACCTGGGACCCCAGACAGCCGCCCCCCCTTCCTGAGCCGCCCAGCCCGGGGCCTTTACAGCCGAAGCGGAAGCCTCAGTGGCCGGAGCAGCCTCAAAGCAGAAGCCGAGAACACCA|TTCCACATCTGAATCACTCCCCTCTCCTGGGGACCTTTCCCGTGACCTCACCCCAGTGCTGCTCAGCAGATGATCTGGTCATTTACCCC MASDAVQSEPRSWSLLEQLGLAGADLAAPGVQQQLELERERLRREIRKELKLKEGAENLRRATTDLGRSLGPVELLLRGSSRRLDLLHQQLQELHAHVVLPDPAATHDGPQSPGAGGPTCSATNLSRVAGLEKQLAIELKVKQGAENMIQTYSNGSTKDRKLLLTAQQMLQDSKTKIDIIRMQLRRALQAGQLENQAAPDDTQGSPDLGAVELRIEELRHHFRVEHAVAEGAKNVLRLLSAAKAPDRKAVSEAQEKLTESNQKLGLLREALERRLGELPADHPKGRLLREELAAASSAAFSTRLAGPFPATHYSTLCKPAPLTGTLEVRVVGCRDLPETIPWNPTPSMGGPGTPDSRPPFLSRPARGLYSRSGSLSGRSSLKAEAENT|iphlnhspllgtfpvtspqccsaddlviy 11BR009 ENSG00000160294.11 ENSG00000287632.1 -/- -/- chr21:46277527 chr4:78681037 CDS/splice-site intron translocation 0 6 1 93 53 high out-of-frame . Nucleoporin_homology_of_Germinal-centre_associated_nuclear_protein(100%)| . . ENSG00000160294.11 ENSG00000287632.1 ENST00000397708.1 ENST00000660086.1 upstream downstream . ^(AGTGCTGAGCGAACCGGAAGTCGGTCCGCGGCGTTTTCTGCCCGCGGTGCGCAGCGCTGAGTGTCGCGGCAGCAGCCTGTGCTTGCGCCTCAAGTCTTTCCGAGGGGCCAGTGGGCAGCGCGGGCCTCGGGGTCCTGGGGCGAGACG___CTTGTTCTAAAGACGAAGGGGAACTCCCTAGTGCTACAGGCTGTTTCAGGAAGCCAATTAATTTTGTACACATAATACTTAATTACCTTCTAATAATTGGAGCAGAAGATGAACCCAACTAATCCTTTCAGTGGGCAGCAGCCTAGTGCTTTTTCGGCGTCTTCTAGTAATGTAGGAACACTTCCATCTAAGCCGCCATTTCGATTTGGTCAACCTTCTCTTTTTGGACAAAACAGTACCTTATCTGGGAAGAGCTCGGGATTTTCACAGGTATCCAGCTTTCCAGCGTCTTCTGGAGTAAGTCATTCCTCTTCAGTGCAAACATTAGGGTTCACCCAAACCTCAAGTGTTGGACCCTTTTCTGGACTTGAGCACACTTCCACCTTTGTGGCTACCTCTGGGCCTTCAAGTTCATCTGTGCTGGGAAACACAGGATTTAGTTTTAAATCACCCACCAGTGTTGGGGCTTTCCCAAGCACTTCTGCTTTTGGACAAGAAGCTGGAGAAATAGTGAACTCTGGTTTTGGGAAAACAGAATTCAGCTTTAAACCTCTGGAAAATGCAGTGTTCAAACCAATACTGGGGGCTGAATCTGAGCCAGAGAAAACCCAGAGCCAAATTGCTTCTGGGTTTTTTACATTTTCCCACCCAATTAGTAGTGCACCTGGAGGCCTGGCCCCTTTCTCTTTTCCTCAAGTAACAAGTAGTTCAGCTACCACTTCAAATTTTACCTTTTCAAAACCTGTTAGTAGTAATAATTCATTATCTGCCTTTACCCCTGCTTTGTCAAACCAAAATGTAGAGGAAGAGAAGAGAGGACCTAAGTCAATATTTGGAAGTTCTAATAATAGCTTCAGTAGCTTCCCTGTATCATCTGCGGTTTTGGGCGAACCTTTCCAGGCTAGCAAAGCAGGTGTCAGGCAGGGGTGTGAAGAAGCTGTTTCCCAGGTGGAACCACTTCCCAGCCTAATGAAAGGACTGAAAAGGAAGGAGGACCAGGATCGCTCCCCAAGGAGACATGGCCACGAGCCAGCAGAAGATTCGGATCCTCTGTCCCGGGGCGATCATCCTCCAGACAAACGACCTGTCCGCCTGAATCGACCCCGGGGAGGTACTTTATTTGGTCGGACGATACAGGATGTTTTCAAAAGCAATAAGGAAGTAGGTCGTCTGGGCAACAAGGAGGCCAAAAAGGAAACTGGCTTTGTTGAGTCTGCAGAAAGTGACCACATGGCTATCCCAGGAGGGAATCAGTCTGTCCTGGCACCTTCCCGGATTCCAGGTGTGAATAAAGAGGAAGAAACTGAAAGTAGAGAGAAGAAAGAAG___ATTCTCTAAGAGGAACTCCGGCGCGTCAGAGTAACAGAAGCGAGAGCACAGACAGTCTTGGGGGCTTGTCTCCCTCTGAAGTCACAGCCATCCAGTGCAAGAACATCCCTGACTACCTCAACGACAGGACCATTCTGGAGAACCATTTTGGCAAAATTGCTAAAGTGCAGCGCATCTTTACCAGGCGCAGCAAAAAGCTTGCAGTGGTACATTTCTTTGATCAT___GCATCTGCAGCCCTGGCTAGAAAGAAGGGGAAAAGTTTGCATAAAGACATGGCTATCTTTTGGCACAGGAAGAAAATAA___GCCCCAATAAGAAACCCTTTTCCCTGAAGGAGAAGAAACCAGGTGACGGTGAAGTCAGCCCGAGCACAGAGGATGCACCCTTTCAGCACTCTCCTCTTGGCAAGGCCGCAGGGAGGACTGGTGCTAGCAGCCTCCTGAATAAAAG___CTCTCCAGTGAAGAA)GCCAAGTCTTCTAAAGGCCCACCAATTCGAGGGAGACTCTTTTGACTCcGCCTCCGAGGGCTCCGAGGGCCTCGGGCCATGTGTGCTCTCCCTCAGTACCCTGATAGGCACTGTGGCTGAGACATCCAAGGAGAAGTACCGCCTGCTTGACCAGAGAGACAGGATCATGCGGCAAG|CTAGGAGTGGACAAGcGGTCAAGTGATGGTGCTGGCCAATGAGAG___GCTGTATGGGAAGCATGGCGGTATCTGCTCGGCTTCTGGGGAGGCCTCAGGAAAACTACAATCATGGCGGAAGGTGAAGGGGGAGCCAGCACTTCACATGGCCAGGAGCAGCAGGAAGTGGAAGAGGTGCTACACACTTTTAAAC(AGCCACATCTCATGAGAACTCACTATCTCCACAACAGCACCAAGAGGGATGGTGTTAAACCATGAGAAACCAGCCCCATGATCCAATCACCTCCTACCAAGCTCCATCTTCAACAATGGGAATTACAGTTCAACGTGAAATTTGAGCAAAGACACAGATTGAAACCATACCAGCCATAGATGGGTGCTGCACAGCCAGGGCTTTCCGTTTGGAGCTGCCCATTAAATACCCAGTTGCTGTGCCCATTCACTGGCAGGCCAATTAATACTTTCTAATATAATTTAATAAACCCTTAACTTTGTGAGTGGCCAAATGGCTACTACTACTCAGTTTTCAAGACTCAGTTCCAATATGCAGATAAAGTTGTGAAAGAATGGAGAAAACTGTTAAGATTAGTTATCTCTGGGAAAGGAGAGTAGGTAGGGGTGATCATGAGAGGGACTTTTCACTGTATAACCTCCTATGCTATTTGAATATCTCACAATATTAGTGTATTATTTTTATAATTGGATTTTCAAAAGTTAGAGAAATGGGGGTGCCGTCTTTGTTTTTTTTGGTTTAAAAATGACCTAAAATGTCTTGTAAAGAAGGCGCAAAAGCCATATGGGAAACAATAAGTAAAAATACCTTAAGTAGTTTTTAAAAATTATTGTCTTAAACATCATTGAGAGCTGTTGTCTCATTTAAAATGTACTCATTAACACGCCAAAGGATAAAATAAATAAGTAAATAAGGA)$ MNPTNPFSGQQPSAFSASSSNVGTLPSKPPFRFGQPSLFGQNSTLSGKSSGFSQVSSFPASSGVSHSSSVQTLGFTQTSSVGPFSGLEHTSTFVATSGPSSSSVLGNTGFSFKSPTSVGAFPSTSAFGQEAGEIVNSGFGKTEFSFKPLENAVFKPILGAESEPEKTQSQIASGFFTFSHPISSAPGGLAPFSFPQVTSSSATTSNFTFSKPVSSNNSLSAFTPALSNQNVEEEKRGPKSIFGSSNNSFSSFPVSSAVLGEPFQASKAGVRQGCEEAVSQVEPLPSLMKGLKRKEDQDRSPRRHGHEPAEDSDPLSRGDHPPDKRPVRLNRPRGGTLFGRTIQDVFKSNKEVGRLGNKEAKKETGFVESAESDHMAIPGGNQSVLAPSRIPGVNKEEETESREKKEDSLRGTPARQSNRSESTDSLGGLSPSEVTAIQCKNIPDYLNDRTILENHFGKIAKVQRIFTRRSKKLAVVHFFDHASAALARKKGKSLHKDMAIFWHRKKISPNKKPFSLKEKKPGDGEVSPSTEDAPFQHSPLGKAAGRTGASSLLNKSSPVKKPSLLKAHQFEGDSFDSASEGSEGLGPCVLSLSTLIGTVAETSKEKYRLLDQRDRIMRQ|arsgqavk* 11BR009 ENSG00000187676.8 ENSG00000277151.1(33860),ENSG00000226968.1(55393) +/+ ./+ chr13:31261082 chr13:32822038 CDS/splice-site intergenic deletion 4 2 0 24 4 high out-of-frame . Fringe-like(100%)| . . ENSG00000187676.8 . ENST00000343307.5 . downstream upstream . ^(AGAGAAGGGTCAGCCGCGGCGGCAGGGCGGCGGCGGCAGCGGCGCAGCTCCGCTCCCCGCGCGTCTCCCTTCCCCGCGCCCAGGTAGGGCGCTCAGCCTCCGCCGCCAGGATGCGGCCGCCCGCCTGCTGGTGGCTGCTCGCGCCGCCGGCGCTGCTCGCGCTCCTCACCTGCTCCCTGG___CTTTTGGTTTGGCTTCTGAAGATACAAAGAAAGAGGTCAAGCAGTCTCAG___GATTTGGAGAAAAGTGGTATATCAAGGAAAAATGACATAG___ACTTAAAAGGAATTGTATTCGTCATCCAGAGTCAAAGTAATTCTTTTCATGCAAAGAGAGCAGAGCAGTTAAAAAAAAGCATCTTAAAGCAGGCTGCAGATCTTACACAG___GAGCTCCCCAGTGTCCTC)CTCCTTCATCAGCTGGCTAAACAAGAAGGTGCATGGACCATACTTCCGTTGTTACCGCA___cTTTTCTGTAACATATAGCAGAAATTCATCTTGGATTTTCTTCTGTGAAGAAGAGACAAGAATACAGATTCCAAAACTCTTGGAAACCCTCAGAAGATATGACCCCTCTAAG___GAATGGTTTTTGGGAAAAGCATTACATGATGAAGAAGCTACAATAATTCACCATTATGCCTTTTCCGAGAATCCTACAGTTTTTAAGTATCCAGACTTTGCTGCAGGCTGGGCCTTAAGTATTCCACTTGTAAACAA|CACAAAATGCCCACGGGAACCACACCCCTGACATCCATCACCACCCTTTCAACAGTGGCCCTCAAACCTGTCTGGAAAATGATGACATCTGAATTATATCATTTATAAATCATTTATATAATACCAAAGTGCTGGGATTACAGGC___GAAATGCATGATTGAGAAACAGC MRPPACWWLLAPPALLALLTCSLAFGLASEDTKKEVKQSQDLEKSGISRKNDIDLKGIVFVIQSQSNSFHAKRAEQLKKSILKQAADLTQELPSVLLLHQLAKQEGAWTILPLLPHFSVTYSRNSSWIFFCEEETRIQIPKLLETLRRYDPSKEWFLGKALHDEEATIIHHYAFSENPTVFKYPDFAAGWALSIPLVNn|tkcprephp* 11BR009 ENSG00000155906.19 ENSG00000213121.2 -/- +/- chr6:151417279 chr6:153233133 CDS/splice-site intron duplication/5'-5' 1 4 0 151 10 high out-of-frame . . . . ENSG00000155906.19 ENSG00000213121.2 ENST00000444024.3 . upstream downstream mismappers(1) ^(AGGAGATGGGTTGGCTGCAGTAGTGAGAGGCTGGGGGTGCGGCTCTTTCCCTGCAGTCCTGCCGAGGAAGCGTGCGTCCCTGGCGCTTCCTTCTTCTCTTCCGGCGGAGAG___CTTGGGATGTGGTAATGCCAGCCACACTCCTCAGAGCCGTGGCCAGATCTCATCATATATTATCAAAAGCACATCAGTGCCGAAGAATCGGTCATCTAATGTTAAAACCACTTAAGGAATTTGAAAATACAACATGCAGCACACTGACAATACGTCAAAGCTTGGATTTGTTCCTTCCTGATAAAACAGCTAGTGGTTTGAATAAGTCTCAGATCCTGGAAATGAACCAAAAAAAGTCAGATACCAGCATGCTGTCTCCATTAAATGCTGCTCGTTGCCAAGATGAAAAGGCACACCTTCCAACCATGAAATCCTTTGGTACTCACAGGAGAGTGACCCACAAACCAAATCTGTTGGGTTCTAAATGGTTTATAAAAATATTAAAGAGGCATTTCTCATCTGTATCAACGGAAACATTTGTTCCAAAACAAGACTTCCCACAGGTGAAGAGACCACTAAAAGCATCCAGGACCAGACAGCCATCCAGGACCAACCTTCCAGTTCTGTCTGTGAACGAG___GACCTAATGCACTGCACAGCATTTGCAACGGCAGATGAGTATCATCTGGGAAATCTGTCTCAAGATCTGGCCTCCCACGGATATGTTGAAGTAACAAGCTTGCCTAGAG___ATGCAGCAAATATTTTGGTGATGGGTGTGGAAAATTCTGCAAAAGAAGGTGATCCTGGAACAATATTCTTCTTCAG___GGAAGGAGCTGCTGTGTTTTGGAATGTGAAAGACAAAACT___ATGAAGCATGTGATGAAAGTTCTAGAAAAACATGAAATTCAGCCCTATGAAATCGCACTGGTACACTGGGAAAATGAAGAACTTAACTACATAAAAATAGA___GGGACAGTCAAAACTTCACAGGGGGGAAATCAAGTTAAATTCAGAGCTGGATTTAGATGATGCCATTCTAGAGAAGTTTGCTTTCTCCAATGCTCTATGCCTTTCTG___TAAAACT)GGCAATTTGGGAAGCATCACTGGATAAATTTATTGAATCTATTCAGTCAATTCCTGAG___GCTTTAAAAGCTGGGAAGAAAGTGAAACTATCTCATGAAGAAGTTATGCAGAAAATCGGTGAACTCTTTGCTCTAAG___GCACCGTATAAACTTGAGTTCAGACTTCCTGATTACTCCTGATTTCTACTGGGACAGAGAAAACCTGGAAGGACTTTACGATAAAACGTGTCAATTCCTTAGCATTGGCCGAAGAGTTAAG|AGTCTTTCTCTGTCACCCAGTCTGGAGTGCAGTTACACAATCTTGGCCTCACTGCAACCTCGGTCTCCCGGTTTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGAATTACAGGCGCCCACCACCACATCTGGCTGATTTTTGTGTTTTG MPATLLRAVARSHHILSKAHQCRRIGHLMLKPLKEFENTTCSTLTIRQSLDLFLPDKTASGLNKSQILEMNQKKSDTSMLSPLNAARCQDEKAHLPTMKSFGTHRRVTHKPNLLGSKWFIKILKRHFSSVSTETFVPKQDFPQVKRPLKASRTRQPSRTNLPVLSVNEDLMHCTAFATADEYHLGNLSQDLASHGYVEVTSLPRDAANILVMGVENSAKEGDPGTIFFFREGAAVFWNVKDKTMKHVMKVLEKHEIQPYEIALVHWENEELNYIKIEGQSKLHRGEIKLNSELDLDDAILEKFAFSNALCLSVKLAIWEASLDKFIESIQSIPEALKAGKKVKLSHEEVMQKIGELFALRHRINLSSDFLITPDFYWDRENLEGLYDKTCQFLSIGRRVK|slslspslecsytilaslqprspgfkqfsclslssswnyrrppphladfcv 11BR009 ENSG00000175073.8 ENSG00000104205.16 -/- +/- chr8:66634630 chr8:66786548 CDS intron duplication/5'-5' 19 12 0 105 28 medium out-of-frame . OTU-like_cysteine_protease(100%)| . . ENSG00000175073.8 ENSG00000104205.16 ENST00000310421.5 . upstream downstream . ^(GTGTCTGAGGGAGAGAGAGCGAGAGTGAGTGAGTGTGAGTGCGGGGTGGGGTGGTGGCCGTTACGTTCGGGGCAACGGCTACGGCAGTGGAGAAGTAAGAAGAGAAACAACGTCCGGCGCTTCCGCCTTCGCTTAGGAGGAGGAAGAGCTGGTAGGGAAAGGAAAGTGCTTCGCCCTGGGCCTGGACTGGACCGAGTCGGGTTGGTGGGGGTCTGGGCTATGAGCTTTTGAGGGTCGCCTGGGACGCGGAGCGAGACACGAGAGCCAGGAGCTATGTCTCAGCCGCCGCCGCCGCCGCCTCCGTTGCCGCCGCCACCTCCTCCCCCTGAGGCTCCACAGACTCCGTCGTCCTTGGCGTCGGCGGCTGCTTCGGGGGGGCTTTTGAAGCGGAGAGACCGGAGAATCCTTTCCGGGAGCTGCCCGGATCCGAAGTGTCAGGCGCGTCTATTTTTCCCGGCCTCCGGTTCTGTCAGCATCGAGTGTACCGAGTGCGGCCAGCGGCACGAGCAGCAACAGCTGCTGGGGGTTGAGGAGGTGACCGACCCGGACGTAGTGCTACACAACCTGCTGCGGAACGCGCTGCTCGGGGTTACGGGGGCACCCAAGAAGAACACGGAACTGGTAAAGGTGATGGGCCTTTCCAACTATCACTGCAAATTGTTGTCGCCCATATTAGCTCGCTATGGAATGGACAAACAGACAGGCCGGGCCAAGCTTCTCCGGGACATGAACCAGGGCGAACTGTTCGATTGCGCCTTACTGGGTGACCGCGCCTTCCTCATAGAACCAGAGCATGTTAACACTGTGGGCTATGGCAAGGACCGCTCCGGAAGCCTCCTGTATTTGCATGACACTCTGGAGGACATTAAGCGGGCCAATAAAAGCCAGGAATGTCTCATTCCAGTGCATGTGGACGGGGATGGACACTGCTTGGTGCATGCTGTGTCTCGGGCTCTAGTAGGCCGAGAGCTCTTCTGGCATGCCTTAAGAGAGAATCTTAAACAGCACTTTCAGCAGCACCTGGCCCGATATCAAGCTCTGTTCCATGACTTCATTGATGCTGCTGAGTGGGAGGACATTATCAATGAGTGTGACCCTCTGTTTGTACCACCTGAGGGTGTTCCCTTGGGCCTGAGGAATATCCACATATTTGGTCTTGCCAATGTGCTACATCGTCCTATTATTCTGTTAGATTCCCTCAGTGGCATGAGAAGCTCTGGTGATTATTCAGCCACCTTTCTACCTGGGCTCATCCCTGCAGAGAAGTGCACTGGGAAAGATGGTCATTTGAACAAACCAATCTGTATTGCATGGAGCAGCTCCGGTAGAAACCATTATATCCCCTTGGTAGGCATAAAAGGGGCTGCTTTGCCCAAACTGCCTATGAATTTGCTTCCTAAAGCATGGGGTGTGCCTCAGGACCTTATTAAAAAGTACATAAAACTTGAAGAGGATGGTGGTTGTGTTATTGGAGGTGACAGAAGTTTGCAAGATAAATACTTACTTAGGCTTGTTGCTGCTATGGAAGAAGTCTTTATGGACAAACATGGTATCCATCCTAGTTTGGTTGCTGATGTCCATCAGTATTTCTACAGAAGGACTGGAGTGATAGGAGTTCAGCCTGAGGAAGTCACAGCAGCTGCTAAAAAAGCAGTAATGGATAATCGCCTTCACAAATGTTTGCTCTGTGGTGCCCTTTCTGAACTTCATGTTCCTCCAGAGTGGTTGGCTCCTGGAGGGAAATTGTATAACCTGGCAAAAAGTACTCATGGACAGCTGAGGACTGACAAAAATTACAGCTTTCCCTTGAACAATTTGGTTTGCTCATATGATTCAGTGAAAGATGTTCTGGTACCAGACTATGGAATGAGTAACCTAACAGCTTGTAATTGGTGCCATGGCACATCTGTGCGAAAGGTCAGAGGAGATGGGTCTATTGTGTATTTGGATGGAGACAGAACTAATTCTAGGTCCACTGGTGGCAAATGTGGTTGTGGATTCAAACACTTTTGGGATGGTAAGGAGTATGACAATCTACCAGAAGCTTTCCCTATTACTTTAGAATGGGGTGGAAGAGTGGTCAGAGAAACAGTATATTGGTTCCAGTATGAAAGTGATTCATCTTTGAATAGTAATGTTTACGATGTTGCAATGAAACTTGTTACCAAGCACTTTCCAGGTGAATTTGGGAGTGAAATCCTAGTTCAGAAAGTTGTCCACACTATATTGCATCAGACTGCCAAAAAGAATCCCGATGATTATACTCCTGTAAATATAGATGGTGCTCACGCCCAAAGAGTTGGAGATGTTCAAGGACAAGAATCAGAGTCTCAGCTCCCAACTAAAATTATTCTTACTGGACAGAAAACAAAAACTTTGCACAAGGAGGAGTTAAACATGAGTAAAACTGAAAGAACTATTCAACAGAATATTACGGAACAGGCTTCTGTAATGCAGAAACGGAAAACAGAGAAGTTAAAACAAGAACAAAAAGGGCAACCCAGGACTGTTTCTCCCAGTACCATTCGTGATGGTCCATCCTCTGCACCTGCTACACCTACCAAGGCTCCCTATTCACCGACAACTTCTAAGGAGAAGAAGATCCGAATCACAACTAATGATGGACGACAGTCCATGGTTACCCTTAAGTCTTCAACAACCTTTTTTGAACTTCAGGAAAGTATAGCCAGAGAATTCAACATTCCTCCATATTTACAGTGTATTCGATACGGGTTTCCTCCTAAAGAGTTAATGCCACCACAGGCAGGAATGGAAAAGGAACCAGTTCCTTTACAGCATGGCGACAGAATTACAATAGAAATTCTAAAAAGTAAAGCTGAAGGTGGTCAGTCTGCTGCAGCACACTCAGCCCACACTGTGAAACAAGAAGATATTGCTGTTACTGGTAAACTGTCATCTAAGGAACTTCAGGAGCAAGCTGAAAAAGAAATGTACTCCTTGTGTCTTTTAGCAACATTAATGG___GAGAAGATGTATGGTCTTATGCAAAGGGACTTCCTCACATGTTTCAGCAGGGTGGTGTATTCTACAGTATTATGAAGAAAACCATGG___GTATGGCTGATGGCAAGCATTGTACTTTTCCACATCTGCCTGGCAAAACCTTTGTCTATAATGCTTCTGAAGATAGACTGGAATTGTGTGTGGATGCTGCAGGACATTTCCCCATTGGTCCTGATGTTGAAGATTTAGTTAAAGAGGCTGTAAGTCAGGTTCGAGCAGAGGCTACTACAAGAAGTAGGGAATCAAGTCCCTCACATGGGCTATTAAAACTAGGTAGTGGTGGAGTAGTGAAAAAGAAATCTGAGCAACTTCATAACGTAACTGCCTTTCAGGGAAAAGGGCATTCTTTAGGAACTGCATCTGGTAACCCACACCTTGATCCAAGAGCTAGGGAAACTTCAGTTGTAAGAAAGCATAATACAGGGACAGACTTTAGTAATAGTTCCACTAAAACAGAGCCTTCTGTATTCACAGCTTCTTCTAGTAATAGTGAGCTTATTCGAATAGCTCCTGGAGTAGTAACAATGAGAGACGGCAGGCAGCTTGATCCTGATTTGGTTGAGGCCCAGCGAAAAAAATTGCAGGAAATG)GTTTCTTCTATTCAGGCTTCAATGGACAGGCACCTTCGGGATCAAAGTACAGAGCAGTCACCATCTGATCTTCCTCAAAGGAAAACAGAAGTTGTGAGTTCTTCTGCAAAGTCTGGGAGTCTTCAGACTGGTTTGCCTGAATCTTTTCCTTTAACTGGTGGTACTGAAAATTTGAATACAGAAACAACTGATGGCTGTGTAGCA|TGTTTGCTGTACCACATCAACTCTCCTTAAGTAAGATTTTCCTCTCCTTCAAGCTAAATTGAACTGGCAACCTAATAATACTTAGTGGCTAAGCTTATTATAAGCCAGACTGTGCTTTACATGTGCCAATCTGGTTGCTCC...___ATACAGAGTTGAAGAGAAGAGAGCACCAGGGATCCACC MSQPPPPPPPLPPPPPPPEAPQTPSSLASAAASGGLLKRRDRRILSGSCPDPKCQARLFFPASGSVSIECTECGQRHEQQQLLGVEEVTDPDVVLHNLLRNALLGVTGAPKKNTELVKVMGLSNYHCKLLSPILARYGMDKQTGRAKLLRDMNQGELFDCALLGDRAFLIEPEHVNTVGYGKDRSGSLLYLHDTLEDIKRANKSQECLIPVHVDGDGHCLVHAVSRALVGRELFWHALRENLKQHFQQHLARYQALFHDFIDAAEWEDIINECDPLFVPPEGVPLGLRNIHIFGLANVLHRPIILLDSLSGMRSSGDYSATFLPGLIPAEKCTGKDGHLNKPICIAWSSSGRNHYIPLVGIKGAALPKLPMNLLPKAWGVPQDLIKKYIKLEEDGGCVIGGDRSLQDKYLLRLVAAMEEVFMDKHGIHPSLVADVHQYFYRRTGVIGVQPEEVTAAAKKAVMDNRLHKCLLCGALSELHVPPEWLAPGGKLYNLAKSTHGQLRTDKNYSFPLNNLVCSYDSVKDVLVPDYGMSNLTACNWCHGTSVRKVRGDGSIVYLDGDRTNSRSTGGKCGCGFKHFWDGKEYDNLPEAFPITLEWGGRVVRETVYWFQYESDSSLNSNVYDVAMKLVTKHFPGEFGSEILVQKVVHTILHQTAKKNPDDYTPVNIDGAHAQRVGDVQGQESESQLPTKIILTGQKTKTLHKEELNMSKTERTIQQNITEQASVMQKRKTEKLKQEQKGQPRTVSPSTIRDGPSSAPATPTKAPYSPTTSKEKKIRITTNDGRQSMVTLKSSTTFFELQESIAREFNIPPYLQCIRYGFPPKELMPPQAGMEKEPVPLQHGDRITIEILKSKAEGGQSAAAHSAHTVKQEDIAVTGKLSSKELQEQAEKEMYSLCLLATLMGEDVWSYAKGLPHMFQQGGVFYSIMKKTMGMADGKHCTFPHLPGKTFVYNASEDRLELCVDAAGHFPIGPDVEDLVKEAVSQVRAEATTRSRESSPSHGLLKLGSGGVVKKKSEQLHNVTAFQGKGHSLGTASGNPHLDPRARETSVVRKHNTGTDFSNSSTKTEPSVFTASSSNSELIRIAPGVVTMRDGRQLDPDLVEAQRKKLQEMVSSIQASMDRHLRDQSTEQSPSDLPQRKTEVVSSSAKSGSLQTGLPESFPLTGGTENLNTETTDGCVA|cllyhinsp* 11BR009 ENSG00000175073.8 ENSG00000288602.1 -/- +/- chr8:66634630 chr8:66786548 CDS intron duplication/5'-5' 19 12 0 105 28 medium out-of-frame . OTU-like_cysteine_protease(100%)| . . ENSG00000175073.8 ENSG00000288602.1 ENST00000310421.5 . upstream downstream . ^(GTGTCTGAGGGAGAGAGAGCGAGAGTGAGTGAGTGTGAGTGCGGGGTGGGGTGGTGGCCGTTACGTTCGGGGCAACGGCTACGGCAGTGGAGAAGTAAGAAGAGAAACAACGTCCGGCGCTTCCGCCTTCGCTTAGGAGGAGGAAGAGCTGGTAGGGAAAGGAAAGTGCTTCGCCCTGGGCCTGGACTGGACCGAGTCGGGTTGGTGGGGGTCTGGGCTATGAGCTTTTGAGGGTCGCCTGGGACGCGGAGCGAGACACGAGAGCCAGGAGCTATGTCTCAGCCGCCGCCGCCGCCGCCTCCGTTGCCGCCGCCACCTCCTCCCCCTGAGGCTCCACAGACTCCGTCGTCCTTGGCGTCGGCGGCTGCTTCGGGGGGGCTTTTGAAGCGGAGAGACCGGAGAATCCTTTCCGGGAGCTGCCCGGATCCGAAGTGTCAGGCGCGTCTATTTTTCCCGGCCTCCGGTTCTGTCAGCATCGAGTGTACCGAGTGCGGCCAGCGGCACGAGCAGCAACAGCTGCTGGGGGTTGAGGAGGTGACCGACCCGGACGTAGTGCTACACAACCTGCTGCGGAACGCGCTGCTCGGGGTTACGGGGGCACCCAAGAAGAACACGGAACTGGTAAAGGTGATGGGCCTTTCCAACTATCACTGCAAATTGTTGTCGCCCATATTAGCTCGCTATGGAATGGACAAACAGACAGGCCGGGCCAAGCTTCTCCGGGACATGAACCAGGGCGAACTGTTCGATTGCGCCTTACTGGGTGACCGCGCCTTCCTCATAGAACCAGAGCATGTTAACACTGTGGGCTATGGCAAGGACCGCTCCGGAAGCCTCCTGTATTTGCATGACACTCTGGAGGACATTAAGCGGGCCAATAAAAGCCAGGAATGTCTCATTCCAGTGCATGTGGACGGGGATGGACACTGCTTGGTGCATGCTGTGTCTCGGGCTCTAGTAGGCCGAGAGCTCTTCTGGCATGCCTTAAGAGAGAATCTTAAACAGCACTTTCAGCAGCACCTGGCCCGATATCAAGCTCTGTTCCATGACTTCATTGATGCTGCTGAGTGGGAGGACATTATCAATGAGTGTGACCCTCTGTTTGTACCACCTGAGGGTGTTCCCTTGGGCCTGAGGAATATCCACATATTTGGTCTTGCCAATGTGCTACATCGTCCTATTATTCTGTTAGATTCCCTCAGTGGCATGAGAAGCTCTGGTGATTATTCAGCCACCTTTCTACCTGGGCTCATCCCTGCAGAGAAGTGCACTGGGAAAGATGGTCATTTGAACAAACCAATCTGTATTGCATGGAGCAGCTCCGGTAGAAACCATTATATCCCCTTGGTAGGCATAAAAGGGGCTGCTTTGCCCAAACTGCCTATGAATTTGCTTCCTAAAGCATGGGGTGTGCCTCAGGACCTTATTAAAAAGTACATAAAACTTGAAGAGGATGGTGGTTGTGTTATTGGAGGTGACAGAAGTTTGCAAGATAAATACTTACTTAGGCTTGTTGCTGCTATGGAAGAAGTCTTTATGGACAAACATGGTATCCATCCTAGTTTGGTTGCTGATGTCCATCAGTATTTCTACAGAAGGACTGGAGTGATAGGAGTTCAGCCTGAGGAAGTCACAGCAGCTGCTAAAAAAGCAGTAATGGATAATCGCCTTCACAAATGTTTGCTCTGTGGTGCCCTTTCTGAACTTCATGTTCCTCCAGAGTGGTTGGCTCCTGGAGGGAAATTGTATAACCTGGCAAAAAGTACTCATGGACAGCTGAGGACTGACAAAAATTACAGCTTTCCCTTGAACAATTTGGTTTGCTCATATGATTCAGTGAAAGATGTTCTGGTACCAGACTATGGAATGAGTAACCTAACAGCTTGTAATTGGTGCCATGGCACATCTGTGCGAAAGGTCAGAGGAGATGGGTCTATTGTGTATTTGGATGGAGACAGAACTAATTCTAGGTCCACTGGTGGCAAATGTGGTTGTGGATTCAAACACTTTTGGGATGGTAAGGAGTATGACAATCTACCAGAAGCTTTCCCTATTACTTTAGAATGGGGTGGAAGAGTGGTCAGAGAAACAGTATATTGGTTCCAGTATGAAAGTGATTCATCTTTGAATAGTAATGTTTACGATGTTGCAATGAAACTTGTTACCAAGCACTTTCCAGGTGAATTTGGGAGTGAAATCCTAGTTCAGAAAGTTGTCCACACTATATTGCATCAGACTGCCAAAAAGAATCCCGATGATTATACTCCTGTAAATATAGATGGTGCTCACGCCCAAAGAGTTGGAGATGTTCAAGGACAAGAATCAGAGTCTCAGCTCCCAACTAAAATTATTCTTACTGGACAGAAAACAAAAACTTTGCACAAGGAGGAGTTAAACATGAGTAAAACTGAAAGAACTATTCAACAGAATATTACGGAACAGGCTTCTGTAATGCAGAAACGGAAAACAGAGAAGTTAAAACAAGAACAAAAAGGGCAACCCAGGACTGTTTCTCCCAGTACCATTCGTGATGGTCCATCCTCTGCACCTGCTACACCTACCAAGGCTCCCTATTCACCGACAACTTCTAAGGAGAAGAAGATCCGAATCACAACTAATGATGGACGACAGTCCATGGTTACCCTTAAGTCTTCAACAACCTTTTTTGAACTTCAGGAAAGTATAGCCAGAGAATTCAACATTCCTCCATATTTACAGTGTATTCGATACGGGTTTCCTCCTAAAGAGTTAATGCCACCACAGGCAGGAATGGAAAAGGAACCAGTTCCTTTACAGCATGGCGACAGAATTACAATAGAAATTCTAAAAAGTAAAGCTGAAGGTGGTCAGTCTGCTGCAGCACACTCAGCCCACACTGTGAAACAAGAAGATATTGCTGTTACTGGTAAACTGTCATCTAAGGAACTTCAGGAGCAAGCTGAAAAAGAAATGTACTCCTTGTGTCTTTTAGCAACATTAATGG___GAGAAGATGTATGGTCTTATGCAAAGGGACTTCCTCACATGTTTCAGCAGGGTGGTGTATTCTACAGTATTATGAAGAAAACCATGG___GTATGGCTGATGGCAAGCATTGTACTTTTCCACATCTGCCTGGCAAAACCTTTGTCTATAATGCTTCTGAAGATAGACTGGAATTGTGTGTGGATGCTGCAGGACATTTCCCCATTGGTCCTGATGTTGAAGATTTAGTTAAAGAGGCTGTAAGTCAGGTTCGAGCAGAGGCTACTACAAGAAGTAGGGAATCAAGTCCCTCACATGGGCTATTAAAACTAGGTAGTGGTGGAGTAGTGAAAAAGAAATCTGAGCAACTTCATAACGTAACTGCCTTTCAGGGAAAAGGGCATTCTTTAGGAACTGCATCTGGTAACCCACACCTTGATCCAAGAGCTAGGGAAACTTCAGTTGTAAGAAAGCATAATACAGGGACAGACTTTAGTAATAGTTCCACTAAAACAGAGCCTTCTGTATTCACAGCTTCTTCTAGTAATAGTGAGCTTATTCGAATAGCTCCTGGAGTAGTAACAATGAGAGACGGCAGGCAGCTTGATCCTGATTTGGTTGAGGCCCAGCGAAAAAAATTGCAGGAAATG)GTTTCTTCTATTCAGGCTTCAATGGACAGGCACCTTCGGGATCAAAGTACAGAGCAGTCACCATCTGATCTTCCTCAAAGGAAAACAGAAGTTGTGAGTTCTTCTGCAAAGTCTGGGAGTCTTCAGACTGGTTTGCCTGAATCTTTTCCTTTAACTGGTGGTACTGAAAATTTGAATACAGAAACAACTGATGGCTGTGTAGCA|TGTTTGCTGTACCACATCAACTCTCCTTAAGTAAGATTTTCCTCTCCTTCAAGCTAAATTGAACTGGCAACCTAATAATACTTAGTGGCTAAGCTTATTATAAGCCAGACTGTGCTTTACATGTGCCAATCTGGTTGCTCC...___ATACAGAGTTGAAGAGAAGAGAGCACCAGGGATCCACC MSQPPPPPPPLPPPPPPPEAPQTPSSLASAAASGGLLKRRDRRILSGSCPDPKCQARLFFPASGSVSIECTECGQRHEQQQLLGVEEVTDPDVVLHNLLRNALLGVTGAPKKNTELVKVMGLSNYHCKLLSPILARYGMDKQTGRAKLLRDMNQGELFDCALLGDRAFLIEPEHVNTVGYGKDRSGSLLYLHDTLEDIKRANKSQECLIPVHVDGDGHCLVHAVSRALVGRELFWHALRENLKQHFQQHLARYQALFHDFIDAAEWEDIINECDPLFVPPEGVPLGLRNIHIFGLANVLHRPIILLDSLSGMRSSGDYSATFLPGLIPAEKCTGKDGHLNKPICIAWSSSGRNHYIPLVGIKGAALPKLPMNLLPKAWGVPQDLIKKYIKLEEDGGCVIGGDRSLQDKYLLRLVAAMEEVFMDKHGIHPSLVADVHQYFYRRTGVIGVQPEEVTAAAKKAVMDNRLHKCLLCGALSELHVPPEWLAPGGKLYNLAKSTHGQLRTDKNYSFPLNNLVCSYDSVKDVLVPDYGMSNLTACNWCHGTSVRKVRGDGSIVYLDGDRTNSRSTGGKCGCGFKHFWDGKEYDNLPEAFPITLEWGGRVVRETVYWFQYESDSSLNSNVYDVAMKLVTKHFPGEFGSEILVQKVVHTILHQTAKKNPDDYTPVNIDGAHAQRVGDVQGQESESQLPTKIILTGQKTKTLHKEELNMSKTERTIQQNITEQASVMQKRKTEKLKQEQKGQPRTVSPSTIRDGPSSAPATPTKAPYSPTTSKEKKIRITTNDGRQSMVTLKSSTTFFELQESIAREFNIPPYLQCIRYGFPPKELMPPQAGMEKEPVPLQHGDRITIEILKSKAEGGQSAAAHSAHTVKQEDIAVTGKLSSKELQEQAEKEMYSLCLLATLMGEDVWSYAKGLPHMFQQGGVFYSIMKKTMGMADGKHCTFPHLPGKTFVYNASEDRLELCVDAAGHFPIGPDVEDLVKEAVSQVRAEATTRSRESSPSHGLLKLGSGGVVKKKSEQLHNVTAFQGKGHSLGTASGNPHLDPRARETSVVRKHNTGTDFSNSSTKTEPSVFTASSSNSELIRIAPGVVTMRDGRQLDPDLVEAQRKKLQEMVSSIQASMDRHLRDQSTEQSPSDLPQRKTEVVSSSAKSGSLQTGLPESFPLTGGTENLNTETTDGCVA|cllyhinsp* 11BR009 ENSG00000115211.16 ENSG00000234072.1 -/- +/+ chr2:27368654 chr2:27367424 CDS/splice-site exon/splice-site inversion 8 7 1 151 101 medium out-of-frame . . . . ENSG00000115211.16 ENSG00000234072.1 ENST00000616081.4 ENST00000412749.1 upstream upstream duplicates(2) ^(GAAATTGTAGTCCGATTGGGGCTGCGCGCTTCGCTTCTGCGGCTCAGCCTCCAGCCCAGGTGGCGCTGTGGACCCTGCAGCCGCGGAGCGAGGCAGCGGGGCGGCTCCGTGACCACGGCGGGCGGAGCCTAGGACTGAGGGCGATGGCTGCTGTGGCCGTGGCTGTTCGCGAGG___ACTCGGGATCCGGGATGAAGGCGGAG___TCCCCCTGGGCCTGGG___TGGGGAGGGAAATGACCAAAGAAGAAAAGCTGCAGCTTCGGAAGGAAAAGAAACAGCAGAAGAAGAAACGGAAGGAAGAAAAGGGGGCAGAACCAGAGACTGGCTCTGCTGTATCTGCAGCCCAATGTCAAG___GCCCAACCAGAGAACTGC)CAGAATCGGGCATTCAGTTGGGCACTCCTCGGGAGAAAGTTCCAGCTGGTCGGAGTAAGGCCGAACTTCGGGCTGAGCGTCGAGCCAAGCAGGAGGCCGAGCGGGCCCTGAAACAGGCAAGAAAAGGGGAACAAGGAGGACCACCTCCTAAGGCCAGCCCCAGCACAGCTGGAGAAACCCCCTCAG___GAGTGAAGCGTCTCCCTGAGTACCCTCAGGTTGATGACCTACTTCTGAGAAGGCTTGTTAAAAAACCAGAGCGTCAACAG|GTGCATGCCTTCCTTATTTCTCATACTCATCACCTCCTCTTCCCGCTTGGAACTGCCCACACTGGTGATTTCCTTGTTAAGGAACTTGATGGCGTTGTGCATGCTCGCTGACAGGGGACGGCACTGAGTCAGGAAGCTATAATACAACAGCAATACCTTATATCTGCGCAACTCTTCACAACTTACAAAGCCTTCACAT$ MAAVAVAVREDSGSGMKAESPWAWVGREMTKEEKLQLRKEKKQQKKKRKEEKGAEPETGSAVSAAQCQGPTRELPESGIQLGTPREKVPAGRSKAELRAERRAKQEAERALKQARKGEQGGPPPKASPSTAGETPSGVKRLPEYPQVDDLLLRRLVKKPERQQ|vhaflishthhllfplgtahtgdflvkeldgvvhar* 11BR009 ENSG00000115211.16 ENSG00000234072.1 -/- +/+ chr2:27367746 chr2:27367424 CDS/splice-site exon/splice-site inversion 6 4 1 59 101 medium out-of-frame . Initiation_factor_2_subunit_family(100%)| . . ENSG00000115211.16 ENSG00000234072.1 ENST00000616081.4 ENST00000412749.1 upstream upstream . ^(GAAATTGTAGTCCGATTGGGGCTGCGCGCTTCGCTTCTGCGGCTCAGCCTCCAGCCCAGGTGGCGCTGTGGACCCTGCAGCCGCGGAGCGAGGCAGCGGGGCGGCTCCGTGACCACGGCGGGCGGAGCCTAGGACTGAGGGCGATGGCTGCTGTGGCCGTGGCTGTTCGCGAGG___ACTCGGGATCCGGGATGAAGGCGGAG___TCCCCCTGGGCCTGGG___TGGGGAGGGAAATGACCAAAGAAGAAAAGCTGCAGCTTCGGAAGGAAAAGAAACAGCAGAAGAAGAAACGGAAGGAAGAAAAGGGGGCAGAACCAGAGACTGGCTCTGCTGTATCTGCAGCCCAATGTCAAG___GCCCAACCAGAGAACTGCCAGAATCGGGCATTCAGTTGGGCACTCCTCGGGAGAAAGTTCCAGCTGGTCGGAGTAAGGCCGAACTTCGGGCTGAGCGTCGAGCCAAGCAGGAGGCCGAGCGGGCCCTGAAACAGGCAAGAAAAGGGGAACAAGGAGGACCACCTCCTAAGGCCAGCCCCAGCACAGCTGGAGAAACCCCCTCAG___GAGTGAAGCGTCTCCCTGAGTACCCTCAGGTTGATGACCTACTTCTGAGAAGGCTTGTTAAAAAACCAGAGCGTCAACAG___GTTCCTACACGAAAGGATTATGGATCCAAAGTCAGTCTCTTCTCTCACCTACCCCAGTACAGCAGACAAAACTCTCTGACCCAGTTTATGAG___CATCCCATCCT)CTGTGATCCACCCAGCCATGGTGCGACTCGGCCTGCAGTACTCCCAGGGCCTGGTCAGTGGCTCCAATGCCCGGTGTATTGCCCTGCTTCGTGCCTTGCAGCAG___GTGATTCAGGATTACACAACACCGCCTAATGAAGAACTCTCCAGGGATCTAGTGAATAAACTAAAACCCTACATGAG|GTGCATGCCTTCCTTATTTCTCATACTCATCACCTCCTCTTCCCGCTTGGAACTGCCCACACTGGTGATTTCCTTGTTAAGGAACTTGATGGCGTTGTGCATGCTCGCTGACAGGGGACGGCACTGAGTCAGGAAGCTATAATACAAC(AGCAATACCTTATATCTGCGCAACTCTTCACAACTTACAAAGCCTTCACAT)$ MAAVAVAVREDSGSGMKAESPWAWVGREMTKEEKLQLRKEKKQQKKKRKEEKGAEPETGSAVSAAQCQGPTRELPESGIQLGTPREKVPAGRSKAELRAERRAKQEAERALKQARKGEQGGPPPKASPSTAGETPSGVKRLPEYPQVDDLLLRRLVKKPERQQVPTRKDYGSKVSLFSHLPQYSRQNSLTQFMSIPSSVIHPAMVRLGLQYSQGLVSGSNARCIALLRALQQVIQDYTTPPNEELSRDLVNKLKPYMr|cmpslflilitsssrlelptlvisllrnlmalcmladrgrh* 11BR009 ENSG00000115211.16 ENSG00000234072.1 -/- +/+ chr2:27368025 chr2:27367424 CDS/splice-site exon/splice-site inversion 5 1 0 95 101 medium out-of-frame . Initiation_factor_2_subunit_family(100%)| . . ENSG00000115211.16 ENSG00000234072.1 ENST00000616081.4 ENST00000412749.1 upstream upstream . ^(GAAATTGTAGTCCGATTGGGGCTGCGCGCTTCGCTTCTGCGGCTCAGCCTCCAGCCCAGGTGGCGCTGTGGACCCTGCAGCCGCGGAGCGAGGCAGCGGGGCGGCTCCGTGACCACGGCGGGCGGAGCCTAGGACTGAGGGCGATGGCTGCTGTGGCCGTGGCTGTTCGCGAGG___ACTCGGGATCCGGGATGAAGGCGGAG___TCCCCCTGGGCCTGGG___TGGGGAGGGAAATGACCAAAGAAGAAAAGCTGCAGCTTCGGAAGGAAAAGAAACAGCAGAAGAAGAAACGGAAGGAAGAAAAGGGGGCAGAACCAGAGACTGGCTCTGCTGTATCTGCAGCCCAATGTCAAG___GCCCAACCAGAGAACTGCCAGAATCGGGCATTCAGTTGGGCACTCCTCGGGAGAAAGTTCCAGCTGGTCGGAGTAAGGCCGAACTTCGGGCTGAGCGTCGAGCCAAGCAGGAGGCCGAGCGGGCCCTGAAACAGGCAAGAAAAGGGGAACAAGGAGGACCACCTCCTAAGGCCAGCCCCAGCACAGCTGGAGAAACCCCCTCAG___GAGTGAAGCGTCTCCCTGAGTACCCTCAGGTTGATGACCTACTTCTGAGAAGGCTTGTTAAAAAACCAGAGCGTCAACAG___GTTCCTACACGAAAGGATTATGGAT)CCAAAGTCAGTCTCTTCTCTCACCTACCCCAGTACAGCAGACAAAACTCTCTGACCCAGTTTATGAG___CATCCCATCCTCTGTGATCCACCCAGCCATGGTGCGACTCGGCCTGCAGTACTCCCAGGGCCTGGTCAGTGGCTCCAATGCCCGGTGTATTGCCCTGCTTCGTGCCTTGCAGCAG|GTGCATGCCTTCCTTATTTCTCATACTCATCACCTCCTCTTCCCGCTTGGAACTGCCCACACTGGTGATTTCCTTGTTAAGGAACTTGATGGCGTTGTGCATGCTCGCTGACAGGGGACGGCACTGAGTCA(GGAAGCTATAATACAACAGCAATACCTTATATCTGCGCAACTCTTCACAACTTACAAAGCCTTCACAT)$ MAAVAVAVREDSGSGMKAESPWAWVGREMTKEEKLQLRKEKKQQKKKRKEEKGAEPETGSAVSAAQCQGPTRELPESGIQLGTPREKVPAGRSKAELRAERRAKQEAERALKQARKGEQGGPPPKASPSTAGETPSGVKRLPEYPQVDDLLLRRLVKKPERQQVPTRKDYGSKVSLFSHLPQYSRQNSLTQFMSIPSSVIHPAMVRLGLQYSQGLVSGSNARCIALLRALQQ|vhaflishthhllfplgtahtgdflvkeldgvvhar* 11BR009 ENSG00000065000.19 ENSG00000169760.17 -/- +/+ chr19:2132338 chr3:173545804 intron intron translocation 5 4 0 11 15 medium stop-codon . Adaptin_N_terminal_region(100%)|Carboxylesterase_family(100%) . . ENSG00000065000.19 ENSG00000169760.17 ENST00000643116.3 . upstream upstream . ^(GCCGCCATCTTGTCCGCCATTTGCAAGGGGCCCGGAGCGGGATCGCGGCACCTGCCGAGCGGGTCGCCGCCTCTGCCGCGGTCCTTGGACCCCGCCGCCGCCCTGGCCTGGGAGCTTGCCCCGCCGCAGCGGCCGGCAGCGCGGCGCTCCGCGGGCGGCAGGCACGGGCCCCGGGCCCCCTCACGGCGCCCAGCCGCGGGCCTCCCGAGGCAAAAGCCCGTGGGCCGCCGCGATGGCCCTCAAGATGGTGAAGGGCAGCATCGACCGCATGTTCGACAAGAATCTGCAGGACTTGGTCCGCGGCATCCGTAACCACAAGGAGGACGAG___GCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTAT___TTACAGATGTTGGGATACGACATCAGCTGGGCCGCCTTCAACATCATAGAAGTGATGAGTGCCTCCAAGTTCACCTTCAAG___CGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAG___GACTTGAGCAGCCCCAGCCAGTACGA)CACAGGTGTTGCACTGACGGGTCTGTCCTGCTTCGTCACCCCAGACCTTGCCAGAGACCTGGCAAATGACATCATGACACTGGTGAGTTTGTAAGCCTGCCCACCACCCCTGCATGTCTGCTCTGGGAAAAACTCGGTCAAAGTGGCATGCCTGGGAAGCTTGGCTATGCGGAAACCGGCCGGGGTCCCCGGTGCGTGGCCTGCCTGAAATGGGA|TGAAGCTGGAAACCACCATTCTCAGCAAACTAACACAGGAACGGAAAACCAAACACCACATGTTTTCACTCATAAGTGGGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAACATCACAC . 11BR009 ENSG00000211460.12 ENSG00000163492.15 +/+ -/+ chr2:121758806 chr2:179035515 CDS/splice-site intron deletion/5'-5' 8 0 0 113 19 medium out-of-frame . . . . ENSG00000211460.12 ENSG00000163492.15 ENST00000409193.1 . downstream upstream . ^(TTAAAAGCACATGTGATCTGCTTAAAACTCTCCTGTGATTTCCTATGCCACACAGGATAAAAAATCAGACTCTACTGTGGCTCACATGGTTTCTCTTCAATCTCGTTTATGCTCTCTGTCTTTGTGTATGATGTTCACTTTACCTCTTCTAGTGCCCCAAATAGCTTCCTGCCTGTTTGCTTTTCCTGGAATTTGCTTCTTTCCCGTTCTTTTCCTGATTGTCTCGTATTTATCTCATTGGCGTCACAGTCTAAGCGATCTATTTCCTGTTATGTTTTCTAGTAGCACATTAACTTTTTTTAATGTGTGTAATATTGATTATTTTAAAAAAATCTTCTCCCTCATTGTATGTTAAACCGCCAGAGGGAAGGGATTGTGTGCTTGGTTCCCCGGTATTTACACAGTGCCTCGCACATAAGTATGCTCAGTGAATATTTTAAAAATGAATTAGAGGCGGGGAGCGGCGCCTCATGCCTGTAATTCCAGCATTTTGGGAGGCCGAGGCGGCC)AGATCACCTGAG___GAAATCAGAAAAGTTGTACAGAGTTTAGAACAAACAGCTCGAGAGATTTTAACTCTACTGCAAGGGGTCCATCAGGGTGCTGGGTTTCAGGACA___TTCCAAAGAGGTGTTTGAAAGCTCGAGAACATTTTGGTACAGTAAAAACACATCTAACATCTTTGAAGACCAAATTTCCTGCTGAACAGTATTACAG|GACTCAGTGGAAAAGGCCTGTCTCTGCCCCATGCAAGTCAGCTGGGAGGCTCAACTGG MPVIPAFWEAEAARSPEEIRKVVQSLEQTAREILTLLQGVHQGAGFQDIPKRCLKAREHFGTVKTHLTSLKTKFPAEQYYr|tqwkrpvsapcksagrln 11BR009 ENSG00000137343.18 ENSG00000257935.2 +/+ +/+ chr6:30628430 chr12:113476271 CDS/splice-site intron translocation 5 0 0 77 9 medium out-of-frame . GNAT_acetyltransferase__Mec-17_(100%)| . . ENSG00000137343.18 ENSG00000257935.2 ENST00000376485.8 . downstream upstream . ^(TGGGGCGGGTCCGACCGCGCACAATGGGCCATGGAGTTCCCGTTCGATGTGGACGCGCTGTTCCCGGAGCGGATCACGGTGCTGGACCAGCACCTGAGGCCCCCAGCCCGCCGACCCGGAACCACAACGCCGGCCCG___TGTTGATCTACAGCAGCAAATTATGACCATTATAGATGAACTGGGCAAGGCTTCTGCCAAG___GCCCAGAATCTTTCCGCTCCTATCACTAGTGCATCAAGGATGCAGAGTAACCGCCATGTTGTTTATATTCTCAAAGACAGTTCAGCCCGACC___GGCTGGAAAAGGAGCCATTATTGGTTTCATCAAAGTTGGATACAAGAAGCTCTTTGTACTG___)GATGATCGTGAGGCTCATAATGAGGTAGAACCACTTTGCATCCTGGACTTTTACATCCATGAGTCTGTGCAACGCCATGGCCATGGGCGAGAACTCTTCCAGTATATGTTGCAG___AAGGAGCGAGTGGAACCGCACCAACTGGCAATTGACCGACCCTCACAGAAGCTGCTGAAATTCCTGAATAAGCACTACAATCTGGAGACCACAGTCCCACAG|GCCGCGCCTCGCACACACACTCAGCGTCCCGCAGCGCCGCAGAGCACCGCCCGCCGCCGGAAGGAATCGGGCCCCCGAGTAGGAGCGGG MEFPFDVDALFPERITVLDQHLRPPARRPGTTTPARVDLQQQIMTIIDELGKASAKAQNLSAPITSASRMQSNRHVVYILKDSSARPAGKGAIIGFIKVGYKKLFVLDDREAHNEVEPLCILDFYIHESVQRHGHGRELFQYMLQKERVEPHQLAIDRPSQKLLKFLNKHYNLETTVPQ|aaprthtqrpaapqstarrrkesgprvga 11BR009 ENSG00000257935.2 ENSG00000137343.18 +/+ +/+ chr12:113476420 chr6:30640404 intron CDS translocation 1 4 0 10 4 medium . . |GNAT_acetyltransferase__Mec-17_(18%) . . ENSG00000257935.2 ENSG00000137343.18 . ENST00000376485.8 downstream upstream mismatches(1) AGGCCGCGCCTCGCACACACACTCAGCGTCCCGCAGCGCCGCAGAGCACCGCCCGCCGCCGGAAGGAATCGGGCCCCCGAGTAGGAGCGGGCGTGAAGGCTGAGCCCCGCTGTCTGGAGGCCGGAGGAGAGCGGCTGGTGTGGCGCTCCGGC|TTCTTTGCCCATCAACATC___GGCCCCCTGCTCCCTCTCTGAGGGCAACTCGACACTCTCGTGCTGCTGCAGTCGATCCCACGCCCGCTG___CTCCAGCAAGGAAGCTGCCACCCAAGAGAGCAGAGGGAGACATCAAGCCATACTCCTCTAGTGACC(GAGAAT___TTCTGAAGGTAGCTGTGGAGCCTCCTTGGCCCCTAAACAGGGCCCCTCGCCGCGCCACACCTCCAGCCCACCCACCCCCCCGCTCCAGCAGCCTGGGAAACTCACCAGAACGAGGTCCCCTCCGCCCCTTTGTGCCAGAGCAGGAGCTGCTGCGTTCCTTGCGCCTCTGCCCCCCACACCCTACCGCCCGCCTTCTGTTGGCTGCTGACCCTGGGGGCAGCCCAGCTCAACGTCGTCGCACCAG___GGGGACTCCCCCAGGTCTGGTAGCCCAAAGCTGCTGCTACAGCCGCCATGGGGGGGTGAATTCCTCATCCCCCAATACAG___GCAACCAAGACTCCAAGCAGGGAGAACAGGAAACAAAGAATAG___GTCTGCCAGTGAGGAGCAGGCCTTGTCACAGGATGGGTCTGGGGAGAAGCCCATGCACACAGCTCCTCCACAGGCCCCGGCCCCGCCAGCCCAGTCCTGGACAGTGGGTGGGGACATACTCAACGCCAGGTTCATTCGAAACCTGCAGGAACGTCGCAGCACCAGGCCTTGGTGACCGCAGCCCCGTCAAACATCTTCAAAGTATTATTTCTCCCTCACTACAGGAAAGAGCCAAAGCCCAACCCTCATAATAGATGGATACATTCATTCATTCATTCATTCAGCAGGCTTATCAGATTCAAGTCATTTGTATCTTTTAACCAGACCAATAAAAGTATTTATTTTTATCACAAGA)$ . 11BR009 ENSG00000176542.10 ENSG00000176542.10 -/+ -/- chr3:113666248 chr3:113652653 intron 3'UTR inversion/3'-3' 1 2 0 2 6 medium . . . . . ENSG00000176542.10 ENSG00000176542.10 . ENST00000316407.9 downstream downstream . ATCACTTGAACCCAGGAGGAGGAGGTTGTGGTGAGCCGAGATTGTGCaATTGCACTCCAGCCTGGGCAACAGTAGCAAAACTCCATCTCAAAAAAATAATAAATATATATATATATATTTGCGATACTTCCATATAGCATCTAGACATCTTTC|CTAAAAAGCTTCCTAAGGGTTGGTCAGAGCAGTTAACTCCAGTGAATACCTCTTCTAAAGACTCAGCAAAAGGGTCATTTGTGCCTCTTTAACTGTTCTTACCAAACTGTCCTGTCTCTTTTCTGCTGCCAACTAAGCAGCTTCCTAGGGACAAAAAAATAaACAATATTTTTTTTTTTCTTGCTTACAAAGCAAGAACAACCTGTATTTTCTTTCTTCAAAATGGTCTTGGGGAAGAATAGGAGAGCTTCATGAATAAGTTACTCAAGAC(AACAGATAAACACAGTAGTCAAAACTTTTTATTGAGGAAAAATGTGGCATTTATGACTTGCTTTTTAATTCTCTTAACTGAATTTTAAGCTGCAACGTTCAAATTTTTCTTTGTACTTGAAAGGTCCAGTGTGCCAATTTCAAGAAGGACAGTTTTCCATGTGTTTGGCTATTCATTTCCCTCTCTCCCTCTCTCATCTGTCTGTCTCTCACTGCCTCTGTCTCTGTCTCTCATACACATATACACACACACACACACACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCCAGTGGCTGTTAAGTTCTGAAGGACTGGGGACTGCTAGACATAATTGAAAGTAAGGTAACAGGCTAAGGAGAAGCTCAGTTTGAACATTGCAATGTAAAGTCCTCAAAGCCTGTGACTTTCAAGTATTTCTGTTGCATTAATTGTATTTTCCTGCTTAGCTGTGTTCAGACATAGTATTTGCATTTCTTGGAGCTTTCATTCCAACAGTCTAACATTTTGATCTTGAAAGAGTCTCAATAAGCCTTATTTGACCATCTGAGGAAAAATGTGACCATCTGTGAATAATTGGCTCCTGCTTACGTGTAGCTCTCATTACTTTACAGATGTATGCATGTGTATGTAAGACTTCAGTTCATACATGGCTTAATTCTGAAAGTGTTCAGACCATAGTACCCTTATTTGATTTAAAAGCATGAATATATGAGATTTACTAGCAGTATTAAGTATTTGATAGAGCTACGTGATTTTTGGGAAGAAATTTGTTATATGGTATGTAGTGTTAATTTGGATATAATTTTTGGTAAAGGGATGGCAGAAAACATAGTCAATTTTGGTTATAATAAACGTAACCTTATTCTTGGCCTGCTCCATGTGAAATAGGGCTCAGGGAAGCTGGTCTTTTCCTTAGCGGGATGATTACTCCTTTGCCTTGAAACATTTATTGGGCCCACCATGTATGGATCAGCATGTGGTGGTAAGTCATACTCCCAAATCAGTGATTCCCAAGTCTTGGCTTTGGGAACCAGTATGCCTCGTATTCTCTTAAAGAGCAACAAGAATTTCTTGAAACAAAATTAGTTCAGAATTGATTTAAATTTTTTAACTTCTGGAAATACACGAAGTTATGTCTGAGTCATGAGTGACAGTCATTGATTAAATCATTTCTCTGTCTCTTTTTTAGCATTATTGATCACAGAGTCCGTTATAAAAAGTGGTTGATTCCTTTCAACATTTAACAATAACTTCTAATGAAGGGTAAAATTCCAGATTCTCTTCATGCGTAAACATTTAATGTGTCAATCATAGATGAAAGGAATCTAGTTTGATGTTGTTTCTTTCTTTCTTTTTTTTGGAAAACACAAGTTGCTCTGGGATGGCTTATATGTTGTTTTATACCGGTTCAGGAAATTTATTTTTGTTTTTATTGTAAGACCTTTTGCGGTACCAGAGATGGCACCTTTTTTCTAGGTAAGGTGTAGGAATTCCTCAATGGTCTTGCTTCGTAAAATTTAACATATCAGAACTGGGGAAAGAGAAAGGAGGGGGTTATTTTTTTGCAGCATTTTCCAGTCACATATCAGGGTTATACTGAACTGCAACAAAGATCAACTTTTAAAAATTAGCCTTCTTAAAATACAAAATGATTTAAGTATTTTAAAGATAATTTATTTGCCTTGCTCTTGCCTTCTAACATTAGCCATTTCATGGAGAGGCTAAAACTTATACTCCAAAAAATGTGGAAGCACATTTTAATGGGAGTAAAATTAAAAAATTTTGAGAAAGGGTAAAATCTTATGAATATGCATCTTCTTAGCTTTATCTTCCCTTTGATAGGTAGGCACTTATGCTCTTCCATCTGCTCCATGTCAAATAGGGCTCAGGGAAGCCAGTCATTTCCTTAGCGAGATGATTACTCCTTTGCCTTGAAACATTTATTGGGCCCACCATGTATGGATCAGTGTGTGGTAGTGAGTCATACTCCCAAATCAGTGATTCCCAAGTCTTGGCTTTGGGAACCAGTATGCCTTGTATTCTCTTAAAAAGCAACAATAATTTCTTGAAACAAAATTAGTTCAGAATTGATTTAAAATATTTCAGTGTGCCATATAGCTCTGTCCCTTGGTTTGGTTGGCCTTGTTTTTTCCTGTGAAGAATGAAAGGGCAAAGGTGATACCAAAATGAAACAGCTTTGGAGTGATATCTTTAGGAGCCTGGAAGCCATTTTTGTAATTTTGTTGTCTATATAAATGCTACCTTTGCCTGGAGGTAGTGCGCCTGTGGCTGTGTACATCCAGAGGGCAACAGTAATAGCCAACAACCAGACAAACTAGTGAAGTTAATCTGTGAGTGATGATTTTATGATACTTATATGCAAATTAAAGGCAGAAGTTAGTTTCTTCTCAAGATGCCTTTTTGGCTGAACATTACCATTTTTCTTTCCCCAGGGTTTGAAAGAAAAGGGCCTTTTTTGGATTTAACTATATTCTGTCTGCATTCTATTCTTCATGCGTAGGTTTCTACTAGAACCTGTGGAGGGGGGACACCAAATTTAGATTGAGTCAGTCCATGCTGATAAGAAGCGTGAGGACCTTGTTGGACACAGAGCTTCTAGATCTTTCCACCTGTAGCCTCTACCCTGTTCCTGCACTTTACCTGAAACTGTGCCTCTGGTCTTTAGACCAGCTGTTGGAACATATCACTCACCCACTCCTCTGTTATAGCAAAGGGCCAGCTGGGATGGTACACGCTGTGTAATCAGACACCTTCTCGACAAGTACAGCTGATGTTTCTCACTGTTGCCTTACCATTCTCTGAGCCATCTTTGATGTTGATTTGTAAAAAAAAACAAAAAACAAAAAAAAAACCTAGTAGCAAAACTCCTGTTAAACTCAGAGCTTGTATGTGGTGGTCATTCAACATCCTTATTTCTAGATTTACACAAACTGTACCAACTGTAATCTTTTTCTGGCACGCGTATGTGGTCAGATGCTTCATAAACGTGAGCCAACTTGGGTTGTAAACATTGGACATAATATACAAATTGGGGAATTTTGGATGACTGCATAATCCTGTCATTAGAGATTTCATAAGACAGAAGATAACTGTTTATTTGTAATTTAACACATTTTTAGAAAAGATGATCTTTAATTTCTTTCCCTCAGTTGTGTATACAGCTATACACCATACTAACACCGTACTATGTCATAGGAACTTAAAGTTAGATGTATCTAAATCCCTTCACTTTTCTAAGACTTCTCTGTGCTCCCACCCCTGAAGTCTTCAAATCATTTTTCATCTGTGAAGTCACTGAGGTACTGGGCTTGACTATAGTGGTAACAGTTAAGGGGAGTTGAACTATTGATCTTCCAAGAAGAAAGGGACCAGATAGTGTTAAGATGCTGCAGTTGTGTTACTGTGAAGAAAAGATTCGCTTCCACTTTCAGCAGGCTATATAAATATATATACATATATATATATATTTTCACTTTGGTAAAAAAAAGTTGAAAAATCTGAGGAGAACATAATTACCTTCACAAATTATTTATAGATACACTGGGTGAGAAGCTTACTGTAGGGCAGTCACCCAAAAAAAACTAATTTTAGTGCTTTCAATAGTGTAATATTTGTATCTATTACCATGGCAGCAGTGTCTGCTGCACACTGTGTCCTATTACTGTAAATCTCCTGGTTTATAATTCTTATGGAAACTAATTTGTTTTGTAATGGAATCCAGAGCAGATATGTATAATATGATCAGGATTGTCCTACAGTTGTAAATAAGAATAGGTCCTGTTTATTTTGACATCTTTTTACAAATGCATTGTATTAGGGTGTGAATATTCTGAACCATCCTCTTGTTTAAAGTTTGGAAATTTTTATTGTTAAATGTAACATTTTAATGGTTGTAATAATTATTTGTATAGATATGAATATAGTATTTTATTTAAGAAAATAAACTTTGCATTTTTGCATTGTAAA)$ . 11BR009 ENSG00000188112.9 ENSG00000162989.5 -/- +/+ chr6:42142300 chr2:154709603 CDS/splice-site CDS/splice-site translocation 0 1 1 104 29 medium out-of-frame . |Inward_rectifier_potassium_channel(100%) . . ENSG00000188112.9 ENSG00000162989.5 ENST00000341865.9 ENST00000651198.1 upstream upstream . ^(ATTTCCCGGCAAGCGGCGGCGCCCGCAGCACCTGTTGCCCGGTGCGCGGGCGGGGAGGACGGCGGGGGACATGGCCTGGTAGAGTCCCCTGGGGAG)ACCGTGCTGAGTTCAGTCCGGGGCAGGGCAGGGCGAGGGAGGGAAGGTCCTTCCCTGGCGCCCGCGCGGGCTGCGGCAGCATGAAAAAGAAGCAGACGGTGCAGGGCACCTTCAGCAAgCTCTTCGGGAAGAAGCACgCCACGACCCCCAGCACCTCCCTCTACGCCACCAATCCGCCCTGGATCTTCcCCCAGGcGGCCCCGGAGGAGGGGACCGGGGGCTTCG|TCTCGGCAGcCACCTGAGGGTGAGTTCCTTCCCCTTGcCCAACgTGAgCTGGATGTAGGTgTTAGT(ACAGGGGCAGATCAACTTTTTCTTGTGTCCCCCCTCACAATTTGCCACGTGATCGATGCCAAAAGCCCCTTTTATGACCTATCCCAGCGAAGCATGCAAACTGAACAGTTCGAGATTGTCGTCATCCTAGAAGGCATTGTGGAAACAACTG___GGATGACTTGTCAAGCTCGAACATCATATACTGAAGATGAAGTTCTTTGGGGTCATCGTTTTTTTCCTGTAATTTCCTTAGAAGAGGGATTCTTTAAAGTTGATTACTCCCAGTTCCATGCAACATTTGAAGTCCCCACCCCACCTTACAGTGTGAAAGAGCAGGAGGAAATGCTTCTCATGTCGTCCCCTTTAATAGCACCAGCCATAACTAACAGCAAAGAAAGACATAATTCTGTGGAATGCTTAGATGGACTAGATGATATTACTACAAAACTACCATCTAAGCTGCAGAAAATTACTGGAAGAGAAGACTTTCCCAAAAAACTCTTGAGGATGAGTTCTACAACTTCAGAAAAAGCCTACAGCTTGGGAGACTTGCCCATGAAACTTCAACGAATAAGTTCAGTTCCGGGCAACTCAGAAGAAAAACTGGTATCTAAAACCACCAAGATGTTATCTGATCCCATGAGCCAGTCTGTGGCTGATTTGCCACCAAAGCTTCAAAAGATGGCTGGAGGAGCAGCTAGGATGGAAGGGAACCTTCCAGCCAAATTAAGAAAAATGAACTCTGATCGCTTCACATAACAAAGCACTCCCTTAGGCATTATTTAATGTTTGATTTAGTAATAGTCCAATATTTGGCGATGAGGTAATTCTCCCTAAGGAATCTGAAAGTATATTTTCCTCCCAGTTCTACAAGCATATTTGAGAACCCTTCCTTTCCCAAGTATTGCGAATGTGCAGAAAGCAACAGTTACGGAGGGAGGACATCATAAGGAAGTTATTAACGGGCATGTATTATCACATCAAGCATGCAATAATGTGCAAATTTTGCATTTAGTTTTATGGCATGATTTATATATGGCATATTTATATTGTATATTCTGGAAAAAAAATATATATATATATTTAAAGGGGAGATACTCTCCCTGACATTTCTAACATATGTATTAAGCCAAACATGAGTGAATAGCTTTCAGGGCGATAAAACTAAATATATGTCTGTGTGTGTGTGTGTATGTATACACACATATACATATATATATACACATACATACACATACATACATACATACATATATATCTGATAAAATTGTGATGTTTTGTTCAAAGTTGTAGTTCTTGTGCATGTTTACTTTATTAGAGTAGGAAGGCTACTGGCATTAATTATTAATACCAAATATTTTAGCCTTAAATTTTTGTCATTTTAAAATCTGATTTAATGTTTTCTGCTGTTTAAGGTCTTGGGAGGCTTTCAATTGTATTTTATATGAGAGAATCACACAAGTTTGTGCTATCTATGGCCCTGCAAAAATATAACCATTACATGTTTAAATTGTAAATTTTAGAGCATACCAGTACTCAGTATAGCATTGAACATTTCTTATGATTTTTAAAAGTTGCTAGTACTGGGGAGAAATAATTGTTGATTAATTTGAGAATTATTCCTTTCCTAGACTAATTAAAATCTGGAAATCTGTTTTGTATATGATCTAATACAAAGATGAGCTCTGAACAAACACTGAATCATGTTAATAGACAGTAGCCAAGTTATATTGAATATATCAGAATCTGTGTGAAGTTACACAATTAATTGTCCCTGTTTCAAACTGAGTAAATTGGAAACATTTTCTTTCTTTTTCTGGAAATTTTGTCCATTTTAAAAACCAATCATTTTAAGAAGACATGACAATGCAATGAAACAGATGATAAATATTTATGCTTAAAATATGTATGTCTAATTGAGTCTCTTTTTTATTCTGTTTTCTTGTTTATGGCATTTGTTGTAACAGGATAGACTTTTTCCTCACCTAGGAAACCTATCCCATGCCTGTCACTTATAGTTCAGGAGGAAGTTTTTGCACAGACCAGAGAGAAATTAAAATTAGATGATAAATTGAAGATATCTTACACACAGTTTTTTGGTGAACACTGATTTTATTGGTGTCTTAGATCCCTAGTCTACCCAAATAATTTTAACAGTACTGTTTTTTCTAATCCTGAAGTCTGATATTTATGACTCATTAGCAGGAATCAAAACTAGTGATCAGTAGAACACTTTCAAAATAAAAATTTGGAATGCAGACTTTTATGAAAATTTAAAAGTGCTCCTTAACAGAATATCATGGGTTTTCCTATAAAACTTCTTTAAGTATTGTAATTCCAGTCTGCCCCAACTTTAAAAAAAATTCTTATTAATATGTCAGTCATTAATTGCTAGTTTGGGCTCTCATTATTTCCTGTTTTTTAACAATTTTGTGATAATTTTATTATTGGCAAATTAATACATCAACACTTAAATCATTGACTATAATAATACCTTCTGGCTACCTCTGTATCAACCAAATTCTGTAGGTGCAAACATATACCAGGGAATTCTTACTGGCAAAATGATCAATCTGGAGTGTGCATCCACTGTGAATGGAGCAAATTGCCCTATACCCATTGATAACCTAGCTTTCTTAGTTTGTAGATGTAGGAAACAAAATAGTGACAGAGAGAGAAGGGGGTCCACAGGGCATGGTATATTTATCAGCAGTGGAAAAAAAGTGCATAGATCATTTAGTCCAAGAACTTAAAACTAAATAGAGCCATAATTTACTTTGGAGAGTCATTTTAATTTGTCTTTGGTACCAAGGAGAAGACGGAACCAAAAACAAACTCTCCAAGTATATTCACACATTCAACAAAATTTTTGCATGCCTTCTATGTCGTAGGCATTTTTAGTTCCTGGGGATTTGGACATGGCTAAGTCAGAGAAGGCCATTGCTCACCATGAACACTGTATACCAGAAGGAGAGTGGGGAGGAGACAAAAAACAAATAAGACCACTTCAGACAATCAAAGTATCAGTTAAGAGAATGAAAACAGGCCTGACTCAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCGGAGGTTGGGGGATCACCTGAGGTCAGGAGATCGAGACCAGCCTGGACAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATTAACTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAAGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTCTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACT)$ MKKKQTVQGTFSKLFGKKHaTTPSTSLYATNPPWIFpQaAPEEGTGGF|vsaat* 11BR009 ENSG00000188112.9 ENSG00000162989.5 -/- +/+ chr6:42142300 chr2:154854727 CDS/splice-site CDS/splice-site translocation 1 1 0 104 85 medium in-frame . |Inward_rectifier_potassium_channel(100%) . . ENSG00000188112.9 ENSG00000162989.5 ENST00000341865.9 ENST00000651198.1 upstream upstream . ^(ATTTCCCGGCAAGCGGCGGCGCCCGCAGCACCTGTTGCCCGGTGCGCGGGCGGGGAGGACGGCGGGGGACATGGCCTGGTAGAGTCCCCTGGGGAGACCGTGCTGAGTTCAGTCCGGGGCAGGGCAGGGCGAGGGAGGGAAGGTCCTTCCCTGGCGCCCGCGCGGGCTGCGGCAGCATGAAAAAGAAGCAGACGGTGCAG)GGCACCTTCAGCAAACTCTTCGGGAAGAAGCACACCACGACCCCCAGCACCTCCCTCTACGCCACCAATCCGCCCTGGATCTTCACCCAGGAGGCCCCGGAGGAGGGGACCGGGGGCTTCG|GGATGACTTGTCAAGCTCGAACATCATATACTGAAGATGAAGTTCTTTGGGGTCATCGT?TTTTTCCTGTAATTTCCTTAGAAGAGGGATTCTTTAAAGTTGATTACTCC(CAGTTCCATGCAACATTTGAAGTCCCCACCCCACCTTACAGTGTGAAAGAGCAGGAGGAAATGCTTCTCATGTCGTCCCCTTTAATAGCACCAGCCATAACTAACAGCAAAGAAAGACATAATTCTGTGGAATGCTTAGATGGACTAGATGATATTACTACAAAACTACCATCTAAGCTGCAGAAAATTACTGGAAGAGAAGACTTTCCCAAAAAACTCTTGAGGATGAGTTCTACAACTTCAGAAAAAGCCTACAGCTTGGGAGACTTGCCCATGAAACTTCAACGAATAAGTTCAGTTCCGGGCAACTCAGAAGAAAAACTGGTATCTAAAACCACCAAGATGTTATCTGATCCCATGAGCCAGTCTGTGGCTGATTTGCCACCAAAGCTTCAAAAGATGGCTGGAGGAGCAGCTAGGATGGAAGGGAACCTTCCAGCCAAATTAAGAAAAATGAACTCTGATCGCTTCACATAACAAAGCACTCCCTTAGGCATTATTTAATGTTTGATTTAGTAATAGTCCAATATTTGGCGATGAGGTAATTCTCCCTAAGGAATCTGAAAGTATATTTTCCTCCCAGTTCTACAAGCATATTTGAGAACCCTTCCTTTCCCAAGTATTGCGAATGTGCAGAAAGCAACAGTTACGGAGGGAGGACATCATAAGGAAGTTATTAACGGGCATGTATTATCACATCAAGCATGCAATAATGTGCAAATTTTGCATTTAGTTTTATGGCATGATTTATATATGGCATATTTATATTGTATATTCTGGAAAAAAAATATATATATATATTTAAAGGGGAGATACTCTCCCTGACATTTCTAACATATGTATTAAGCCAAACATGAGTGAATAGCTTTCAGGGCGATAAAACTAAATATATGTCTGTGTGTGTGTGTGTATGTATACACACATATACATATATATATACACATACATACACATACATACATACATACATATATATCTGATAAAATTGTGATGTTTTGTTCAAAGTTGTAGTTCTTGTGCATGTTTACTTTATTAGAGTAGGAAGGCTACTGGCATTAATTATTAATACCAAATATTTTAGCCTTAAATTTTTGTCATTTTAAAATCTGATTTAATGTTTTCTGCTGTTTAAGGTCTTGGGAGGCTTTCAATTGTATTTTATATGAGAGAATCACACAAGTTTGTGCTATCTATGGCCCTGCAAAAATATAACCATTACATGTTTAAATTGTAAATTTTAGAGCATACCAGTACTCAGTATAGCATTGAACATTTCTTATGATTTTTAAAAGTTGCTAGTACTGGGGAGAAATAATTGTTGATTAATTTGAGAATTATTCCTTTCCTAGACTAATTAAAATCTGGAAATCTGTTTTGTATATGATCTAATACAAAGATGAGCTCTGAACAAACACTGAATCATGTTAATAGACAGTAGCCAAGTTATATTGAATATATCAGAATCTGTGTGAAGTTACACAATTAATTGTCCCTGTTTCAAACTGAGTAAATTGGAAACATTTTCTTTCTTTTTCTGGAAATTTTGTCCATTTTAAAAACCAATCATTTTAAGAAGACATGACAATGCAATGAAACAGATGATAAATATTTATGCTTAAAATATGTATGTCTAATTGAGTCTCTTTTTTATTCTGTTTTCTTGTTTATGGCATTTGTTGTAACAGGATAGACTTTTTCCTCACCTAGGAAACCTATCCCATGCCTGTCACTTATAGTTCAGGAGGAAGTTTTTGCACAGACCAGAGAGAAATTAAAATTAGATGATAAATTGAAGATATCTTACACACAGTTTTTTGGTGAACACTGATTTTATTGGTGTCTTAGATCCCTAGTCTACCCAAATAATTTTAACAGTACTGTTTTTTCTAATCCTGAAGTCTGATATTTATGACTCATTAGCAGGAATCAAAACTAGTGATCAGTAGAACACTTTCAAAATAAAAATTTGGAATGCAGACTTTTATGAAAATTTAAAAGTGCTCCTTAACAGAATATCATGGGTTTTCCTATAAAACTTCTTTAAGTATTGTAATTCCAGTCTGCCCCAACTTTAAAAAAAATTCTTATTAATATGTCAGTCATTAATTGCTAGTTTGGGCTCTCATTATTTCCTGTTTTTTAACAATTTTGTGATAATTTTATTATTGGCAAATTAATACATCAACACTTAAATCATTGACTATAATAATACCTTCTGGCTACCTCTGTATCAACCAAATTCTGTAGGTGCAAACATATACCAGGGAATTCTTACTGGCAAAATGATCAATCTGGAGTGTGCATCCACTGTGAATGGAGCAAATTGCCCTATACCCATTGATAACCTAGCTTTCTTAGTTTGTAGATGTAGGAAACAAAATAGTGACAGAGAGAGAAGGGGGTCCACAGGGCATGGTATATTTATCAGCAGTGGAAAAAAAGTGCATAGATCATTTAGTCCAAGAACTTAAAACTAAATAGAGCCATAATTTACTTTGGAGAGTCATTTTAATTTGTCTTTGGTACCAAGGAGAAGACGGAACCAAAAACAAACTCTCCAAGTATATTCACACATTCAACAAAATTTTTGCATGCCTTCTATGTCGTAGGCATTTTTAGTTCCTGGGGATTTGGACATGGCTAAGTCAGAGAAGGCCATTGCTCACCATGAACACTGTATACCAGAAGGAGAGTGGGGAGGAGACAAAAAACAAATAAGACCACTTCAGACAATCAAAGTATCAGTTAAGAGAATGAAAACAGGCCTGACTCAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCGGAGGTTGGGGGATCACCTGAGGTCAGGAGATCGAGACCAGCCTGGACAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATTAACTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAAGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTCTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACT)$ MKKKQTVQGTFSKLFGKKHTTTPSTSLYATNPPWIFTQEAPEEGTGGF|gMTCQARTSYTEDEVLWGHR?FPVISLEEGFFKVDYSQFHATFEVPTPPYSVKEQEEMLLMSSPLIAPAITNSKERHNSVECLDGLDDITTKLPSKLQKITGREDFPKKLLRMSSTTSEKAYSLGDLPMKLQRISSVPGNSEEKLVSKTTKMLSDPMSQSVADLPPKLQKMAGGAARMEGNLPAKLRKMNSDRFT* 11BR010 ENSG00000151474.23 ENSG00000233256.1(5393),ENSG00000165626.17(10111) -/- ./- chr10:13689960 chr10:13428526 intron intergenic deletion/read-through 41 24 2 93 83 high . . Domain_of_unknown_function_(DUF3338)(100%),FERM_C-terminal_PH-like_domain(100%),FERM_N-terminal_domain_(100%),FERM_central_domain(100%)| . . ENSG00000151474.23 . . . upstream downstream duplicates(6),low_entropy(1),mismappers(1),mismatches(3) TGCCCTCTTGCCTAGAATGTGTTCCCACAAAGGGGACAAGCCCCGCTGCTTGCAATTCCAGGAGAGCTCTAATTGTTAATACTCTTATTACACTTGCCGGATTTTATTTTCTGATGTTCATTCAGAAAAGGTGATATGTATAACCCAGTGTCCAGTTGGGTCAACTGTTTTCTCTCTTTCACCTCCTTGTTAGATAGTGTCTAATAATTGTTCCTTAAAAGCATTTTGAGAAACTAGTCTCCATTTCAGAATTTTCTAATACTTGCCCAGTACCCA|GTAGTGGAATTGCTGGATCATGTTCTATTTTTAGGTTTTGGGGGATCTTCCATACTGGGGTGTCTGGAGTTGGTTCCTGTCGGTGGGTTCGTGGTCTCGCTGACTTCAAGAATTGAGCTGTGcACCTTCGTGGTGAGTGTTACAGCTCTTAAAGATGGCACAGACCCAAAGAATGAATGGTAGCAAGTTTTATTGTGAAGAGTGAAAGGACAAAGCTTCCACAGCATGGAAGCGGACCCCAGAAGGTTGTTGCCTGCTGGCTGGGGTGGCCAGCGTTTATTCCCCTTATTGTCCCC . 11BR010 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 21 18 0 58 62 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000378605.3 upstream downstream duplicates(2),mismappers(1),mismatches(1) AAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATGGTATGGTTGTCAACAAAC(ATTCAGAAGGCTCTCATGGGG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___AGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___TGGTCTGATGAAGGACTGCAAACCACAGCTCTTGTGTTTTTTGCACCATGGGTTTTAAAATCCGTCCTCTGCCTCCCACAAGGAGCTACTACCCAAGGGAAGGGAGAAGATTAATTGGTGACCTTTCGCCGTGTTAAAATAGGATGAGTATGTTGCTGGTCAAGGCAGAAACGCTAACTTCCAACTGTGGTCTGTTAAGAGATCTGCTGGGAACCTTCAGAAGCACTGCCTTCCAAGGCGGGGCCACAGCTTGGGGTGTTCAGCACTTGAGGACGGGTGGAGCTTGTTCAACCCAAAGATGTGTGCGATGAACGGATCTACACACTGGAAATACGTATCAAAACTGCAACAGCAAAATCATATTTTGTAAATTAAAATTGTGTTTACTTACTGTGA)$ . 11BR010 ENSG00000108395.14 ENSG00000264093.1(35515),ENSG00000197170.10(26050) -/- ./- chr17:59064355 chr17:67311866 CDS/splice-site intergenic duplication 19 17 0 212 101 high out-of-frame . B-box_zinc_finger(100%),MATH_domain(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%)| . . ENSG00000108395.14 . ENST00000393066.7 . upstream downstream duplicates(1),inconsistently_clipped(2) ^(CCTCCTTTCCCCTCCCACAGCGTCCTGCGCGCATGCGCTTCGCAGCTTCTCTCGCCGCCGCGCCCCCAGCTGCTCTGGTTACGGTTGGTGTTTGCGAATTCTCTGCGGCACCTTCTTCGCTGAACTCCACCGTCAGTTCCATAGGCGCGCGCCCGCGTCACGTGGGCCGAGGTTCCGGCGCGGCTGCTGGCCGGCGGCTGAGCCGGGAGAAAGGAGCTGCGGCCACCGTTCGCCCTACTTCTGCGCCTCGGGGCGGGCGCGCCGGTAAAAATGGCGAAATGGGGGTAGGCGGCGCTGGACCTGAAGAGATGGGGCGCGCAGGTGGGGCGGTTGTCAGAGCCCCCTGACGTGGGCGCCGGGCTTTTATCGGCGATTTGATCTGGCGACCTCGGGCCGGCGCCTAAGAGGTCAGACTGCGGAGCCTGCGGGTCGCCAGCGGCCCCGCCGAGAGCCGGAGGCAATGGATGAACAGAGCGTGGAG___AGCATTGCTGAGGTTTTCCGATGTTTCATTTGTATGGAGAAATTGCGGGATGCACGCCTGTGTCCTCATTGCTCCAAACTGTGTTGTTTCAGCTGTATTAGG___CGCTGGCTGACAGAGCAGAGAGCTCAATGTCCTCATTGCCG___TGCTCCACTCCAGCTACGAGAACTAGTAAATTGTCGTTGGGCAGAAGAAGTAACACAACAGCTTGATACTCTTCAACTCTGCAGTCTCACCAAACATGAAGAAAATGAAAAGGACAA___ATGTGAAAATCACCATGAAAAACTTAGTGTATTTTGCTGGACTTGTAAGAAGTGTATCTGCCATCAGTGTGCACTTTGGGGAGGAATG___CATGGCGGACATACCTTTAAACCTTTGGCAGAAATTTATGAGCAACACGTCACTAAAGTGAATGAAGAGGTAGCCAAACTTCGTCGGCGTCTCATGGAACTGATCAGCTTAGTTCAAGAAGTG___GAAAGGAATGTAGAAGCTGTAAGAAATGCAAAAGATGAGCGTGT)TCGGGAAtTTAGGAATGCAGTGGAGATGATGATTGCACGGTTAGACACcCAGCTGAAGAATAAGCTTATAACACTGATGG___GTCAGAAGACATCTCTAACCCAAGAAACAGAGCTTTTGGAATCCTTACTTCAGGAGGTGGAGCACCAG___TTGCGGTCTTGTAGTAAGAGTGAGTTGATATCTAAGAGCTCAGAGATCCTTATGATGTTTCAGCAAGTTCATCGGAAGCCCATGGCATCTTTTGTTACCACTCCTGTTCCACCAGACTTTACCAG___TGAATTAGTGCCATCTTACGATTCAGCTACTTTTGTTTTAGAGAATTTCAG|GGATGAACTGACTGTCAAAGCTGTTTCCTTGGAATCCTGGGGTTTGTAATAGAATCATTCAGCTCTGCTACTCAAAGAGAATTTAAATGAAGACAACTGCTGGGAGCCATCTTCACTTCCTTTTTCCAGATGCATCTGAAAACACCAAACCAcTCTGTCGTTTTCAAAAGTTAAGTCCTAGAGTATTTCCAGTTACTTTGAGCAAGAAAATATCTAAAGACCTCGCAGGCAAACGGAAC MDEQSVESIAEVFRCFICMEKLRDARLCPHCSKLCCFSCIRRWLTEQRAQCPHCRAPLQLRELVNCRWAEEVTQQLDTLQLCSLTKHEENEKDKCENHHEKLSVFCWTCKKCICHQCALWGGMHGGHTFKPLAEIYEQHVTKVNEEVAKLRRRLMELISLVQEVERNVEAVRNAKDERVREfRNAVEMMIARLDTQLKNKLITLMGQKTSLTQETELLESLLQEVEHQLRSCSKSELISKSSEILMMFQQVHRKPMASFVTTPVPPDFTSELVPSYDSATFVLENFr|deltvkavsleswgl* 11BR010 ENSG00000108395.14 ENSG00000264093.1(50228),ENSG00000197170.10(11337) -/- ./+ chr17:59064355 chr17:67326579 CDS/splice-site intergenic inversion 7 2 0 212 43 high out-of-frame . B-box_zinc_finger(100%),MATH_domain(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%)| . . ENSG00000108395.14 . ENST00000393066.7 . upstream upstream . ^(CCTCCTTTCCCCTCCCACAGCGTCCTGCGCGCATGCGCTTCGCAGCTTCTCTCGCCGCCGCGCCCCCAGCTGCTCTGGTTACGGTTGGTGTTTGCGAATTCTCTGCGGCACCTTCTTCGCTGAACTCCACCGTCAGTTCCATAGGCGCGCGCCCGCGTCACGTGGGCCGAGGTTCCGGCGCGGCTGCTGGCCGGCGGCTGAGCCGGGAGAAAGGAGCTGCGGCCACCGTTCGCCCTACTTCTGCGCCTCGGGGCGGGCGCGCCGGTAAAAATGGCGAAATGGGGGTAGGCGGCGCTGGACCTGAAGAGATGGGGCGCGCAGGTGGGGCGGTTGTCAGAGCCCCCTGACGTGGGCGCCGGGCTTTTATCGGCGATTTGATCTGGCGACCTCGGGCCGGCGCCTAAGAGGTCAGACTGCGGAGCCTGCGGGTCGCCAGCGGCCCCGCCGAGAGCCGGAGGCAATGGATGAACAGAGCGTGGAG___AGCATTGCTGAGGTTTTCCGATGTTTCATTTGTATGGAGAAATTGCGGGATGCACGCCTGTGTCCTCATTGCTCCAAACTGTGTTGTTTCAGCTGTATTAGG___CGCTGGCTGACAGAGCAGAGAGCTCAATGTCCTCATTGCCG___TGCTCCACTCCAGCTACGAGAACTAGTAAATTGTCGTTGGGCAGAAGAAGTAACACAACAGCTTGATACTCTTCAACTCTGCAGTCTCACCAAACATGAAGAAAATGAAAAGGACAA___ATGTGAAAATCACCATGAAAAACTTAGTGTATTTTGCTGGACTTGTAAGAAGTGTATCTGCCATCAGTGTGCACTTTGGGGAGGAATG___CATGGCGGACATACCTTTAAACCTTTGGCAGAAATTTATGAGCAACACGTCACTAAAGTGAATGAAGAGGTAGCCAAACTTCGTCGGCGTCTCATGGAACTGATCAGCTTAGTTCAAGAAGTG___GAAAGGAATGTAGAAGCTGTAAGAAATGCAAAAGATGAGCGTGTTCGGGAAATTAGGAATGCAGTGGAGATGATGATTGCACGGTTAGACACACAGCTGAAGAATAAGCTTATAACACTGATGG___GTCAGAAGACATCTCTAACCCAAGAAACAGAG)CTTTTGGAATCCTTACTTCAGGAGGTGGAGCACCAG___TTGCGGTCTTGTAGTAAGAGTGAGTTGATATCTAAGAGCTCAGAGATCCTTATGATGTTTCAGCAAGTTCATCGGAAGCCCATGGCATCTTTTGTTACCACTCCTGTTCCACCAGACTTTACCAG___TGAATTAGTGCCATCTTACGATTCAGCTACTTTTGTTTTAGAGAATTTCAG|GGAGCTGAGTTCTGTGACTGCATCTCCTGCTGGAAGCCCTGACCTTTAGAGGACAGCCATCAGAGAGCTGCTGAATGATG MDEQSVESIAEVFRCFICMEKLRDARLCPHCSKLCCFSCIRRWLTEQRAQCPHCRAPLQLRELVNCRWAEEVTQQLDTLQLCSLTKHEENEKDKCENHHEKLSVFCWTCKKCICHQCALWGGMHGGHTFKPLAEIYEQHVTKVNEEVAKLRRRLMELISLVQEVERNVEAVRNAKDERVREIRNAVEMMIARLDTQLKNKLITLMGQKTSLTQETELLESLLQEVEHQLRSCSKSELISKSSEILMMFQQVHRKPMASFVTTPVPPDFTSELVPSYDSATFVLENFr|elssvtaspagspdl* 11BR010 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 9 10 0 50 30 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCT)GTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR010 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 3 0 16 11 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismatches(1) ATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCgTGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGAC(AAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR010 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 1 10 0 23 20 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1),low_entropy(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAA)CACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGG...___ATTCAAGGCCTCTTCCAGATGTAGCCCTG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksss 11BR010 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 6 5 0 86 36 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAA)CACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR010 ENSG00000008294.21 ENSG00000154258.17 -/- -/- chr17:51031681 chr17:68996014 CDS/splice-site CDS/splice-site duplication 5 5 0 35 26 high in-frame . JNK_SAPK-associated_protein-1(100%)|ABC-2_family_transporter_protein(100%),ABC_transporter(100%) . . ENSG00000008294.21 ENSG00000154258.17 ENST00000262013.12 ENST00000340001.9 upstream downstream duplicates(2) ^(GGCAGTTGGTGCAGCGGCGGTTGGGGTGAGAGCGCCTACGCCACCCCTCCCCTCCTCCGGCCCCGGCCCCCACCCCGCCGGGCCCAGCCCCAGCCCCGGCCCGGGCTCCAGCCCTAGTACCCGTCCCAGCCCGAGTCGGGTCCGTCCCGTGCGGGCAGGTGCCGCCCCTCTGCCGGCGACGCCCCGGGCCGCCCGCCCGTCCGCTTGCCACCATGGAGCTGGAGGACGGTGTGGTGTATCAGGAGGAGCCCGGCGGCTCCGGGGCCGTGATGTCGGAGCGGGTGTCCGGCCTGGCCGGCTCCATCTACCGCGAGTTCGAGCGGCTTATCGGGCGCTATGACGAGGAGGTGGTCAAAGAGCTGATGCCGCTGGTGGTGGCTGTGCTGGAGAACCTGGACTCGGTGTTCGCGCAGGACCAGGAGCACCAGGTGGAGCTGGAGCTGCTGCGGGACGACAACGAGCAGCTCATCACCCAGTACGAGCGGGAGAAGGCGCTGCGCAAGCACGCTGAGGAG___AAATTCATTGAATTTGAAGACTCTCAAGAACAGGAAAAAAAGGACTTACAGACCCGAGTGGAATCTTTAGAATCTCAAACAAGACAACTTGAGCTGAAAGCGAAAAACTATGCTGACCAGA___TTAGCAGACTTGAAGAAAGAGAAGCAGAACTGAAGAAGGAATATAATGCATTACATCAAAGACACACTGAG___ATGATCCATAATTATATGGAACATTTAGAAAGAACAAAACTTCATCAGCTCTCAGGGAGTGATCAACTAGAATCCACAGCTCATAGTAGAATTAG___AAAAGAACGCCCTATATCA)TTAGGAATTTTCCCATTACCTGCTGGAGATGGATTGCTTACACCTGATGCTCAGAAAGGAGGAGAGACCCCTGGATCTGAGCAATGGAAATTTCAGGAATTAAGTCAACCACGTTCTCATACCAGCCTGAAG___GTCAGCAATAGTCCTGAACCTCAGAAGGCTGTAGAACAGGAG|GTGGTCATCTTCTCGATAGTTGCTACTGATCTAAATGAATATGGATTTCTAGGGCTATTTTTTGGCACCATGTTAATACCTCCCTTCACATTGATTGGCTCTCTATTCATTTTTTCTGAG___ATTTCTCCTGATTCCATGGATTACTTAGGAGCTTCAGAATCTGAAATTGTATACCTGGCACTGCTAATA___CCTTAC(CTTCATTTTCTCATTTTTCTTTTCATTCTGCGATGCCTAGAAATGAACTGCAGGAAGAAACTAATGAGAAAGGATCCTGTGTTCAG___AATTTCTCCAAGAAGCAACGCTATTTTTCCAAACCCAGAAGAGCCTGAAGGAGAGGAGGAAGATATCCAGATGGAAAGAATGAGAACAGTGAATGCTATGGCTGTGCGAGACTTTGATGAG___ACACCCGTCATCATTGCCAGCTGTCTACGGAAGGAATATGCAGGCAAAAAGAAAAATTGCTTTTCTAAAAGGAAGAAAAAAATTGCCACAAGAAATGTCTCTTTTTGTGTTAAAAAAG___GTGAAGTTATAGGACTGTTAGGACACAATGGAGCTGGTAAAAGTACAACTATTAAGATGATAACTGGAGACACAAAACCAACTGCAGGACAG___GTGATTTTGAAAGGGAGCGGTGGAGGGGAACCCCTGGGCTTCCTGGGGTACTGCCCTCAGGAGAATGCGCTGTGGCCCAACCTGACAGTGAGGCAGCACCTGGAGGTGTACGCTGCCGTGAAAGGTCTCAGGAAAGGGGACGCAATGATCGCCATCACACG___GTTAGTGGATGCGCTCAAGCTGCAGGACCAGCTGAAGGCTCCCGTGAAGACCTTGTCAGAGGGAATAAAGCGAAAG___CTGTGCTTTGTGCTGAGCATCCTGGGGAACCCGTCAGTGGTGCTTCTGGATGAGCCGTCGACCGGGATGGACCCCGAGGGGCAGCAGCAAATGTG___GCAGGTGATTCGGGCCACCTTTAGAAACACGGAGAGGGGCGCCCTCCTGACCACCCACTACATGGCAGAGGCTGAGGCGGTGTGTGACCGAGTGGCCATCATGGTGTCAGGAAGGCTGAG___ATGTATTGGTTCCATCCAACACCTGAAAAGCAAATTTGGCAAAGACTACCTGCTGGAGATGAAGCTGAAGAACCTGGCACAAATGGAGCCCCTCCATGCAGAGATCCTGAGGCTTTTCCCCCAGGCTGCTCAGCAGGAAAG___GTTCTCCTCCCTGATGGTCTATAAGTTGCCTGTTGAGGATGTGCGACCTTTATCACAGGCTTTCTTCAAATTAGAGATAG___TTAAACAGAGTTTCGACCTGGAGGAGTACAGCCTCTCACAGTCTACCCTGGAGCAG___GTTTTCCTGGAGCTCTCCAAGGAGCAGGAGCTGGGTGATCTTGAAGAGGACTTTGATCCCTCGGTGAAGTGGAAACTCCTCCTGCAGGAAGAGCCTTAAAGCTCCAAATACCCTATATCTTTCTTTAATCCTGTGACTCTTTTAAAGATAATATTTTATAGCCTTAATATGCCTTATATCAGAGGTGGTACAAAATGCATTTGAAACTCATGCAATAATTATCCTCAGTAGTATTTCTTACAGTGAGACAACAGGCGATGTCAGTGAGGGCGATCATAGGGCATAAGCCTAAGCCATACCATGCAGCCTTTGTGCCAGCAACCAAATCCCATGTTTCCTACTGTGTTAAGTTTAAAAATGCATTTATTATAGAATTGTCTACATTTCTGAGGATGTCATGGAGAATGCTTAATTTTCTTTCTCTGAACTTCAAAATATTAAATATTTTCTTATTTATTTTTTTGATTAAAGTATAAATTAAGACACCCTATTGACTTCCGGGTAAGGGGAGTCAATTGATTACCCAGCAGCACAGTATTTGCTTTTTATAATTCCCTTTTTAAATACTTGTTCTTAATTCACTGGTTTTCCTTTTCTGTCATTTTTCAGAGTTTAGATTGTGAGTCCATGTTTTGTCTGTTGTGCCTATAAAGGAAATTTGAAATCTGTATCATTCTACTATAAAGACACATGCACACGTATGTTTATTGCAGCACTGTTTACAATAGCAAAGACTTGGAACCAACCAAAATACCCACAAATGATAGACCGGATAAAGAAAACGTGACACATATACACCATGGAATACTATGCAGCCATAGAAAAGGATGAGTTCATATTCTTCACAGGGACATGGATGAAGCTGGAAACCATCATCCTCAGCAAACTAACACAGGAACAGAAAACCAAACACCGCATGTTCTCACTCATAAGTGGGAATTGAACAATGAGAATACATGGACACAGGGAGGGGAACACCACACCCTGGGGCCTGTTGGGGGGATGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTGATGTAGATGATGGGTTGATGGGTGCAGCAAAGTACCATGGCACATGTATACCTGTGTAACAAACCTGCACATTCAGCACATGTATCCCAGAACTTAAAGTATAATAAAAATAAATAAATAATTTCAGTAAGAACCTGATCAAGTTGAACATGTATATATATGTTATACACAAGTTTGAAACATATTTCTGTTTTTATATGTTTTCTTATGATGCAAGGGCATACTCTTATGCAAATAATTAAAACTTCATAGGTCTTAATTTCCCATATCTCTATATATTATTATGACCTATCCAACTGGTAACCCTATGAACACCTTAAAATAAACTTGTATACTCTTATTTAGGTGAGTTTTTCTTGTTAATACTATTATTATTGCTATCTAATTGAATACTTGAAGGAAGTTGTGTGAAAGACCTTGGCTTTGATTTTAGTTCTTATATTCTTCTAGTTTTTGAAAATAAAACACTTCCATCAACCCGTAA)$ MELEDGVVYQEEPGGSGAVMSERVSGLAGSIYREFERLIGRYDEEVVKELMPLVVAVLENLDSVFAQDQEHQVELELLRDDNEQLITQYEREKALRKHAEEKFIEFEDSQEQEKKDLQTRVESLESQTRQLELKAKNYADQISRLEEREAELKKEYNALHQRHTEMIHNYMEHLERTKLHQLSGSDQLESTAHSRIRKERPISLGIFPLPAGDGLLTPDAQKGGETPGSEQWKFQELSQPRSHTSLKVSNSPEPQKAVEQE|VVIFSIVATDLNEYGFLGLFFGTMLIPPFTLIGSLFIFSEISPDSMDYLGASESEIVYLALLIPYLHFLIFLFILRCLEMNCRKKLMRKDPVFRISPRSNAIFPNPEEPEGEEEDIQMERMRTVNAMAVRDFDETPVIIASCLRKEYAGKKKNCFSKRKKKIATRNVSFCVKKGEVIGLLGHNGAGKSTTIKMITGDTKPTAGQVILKGSGGGEPLGFLGYCPQENALWPNLTVRQHLEVYAAVKGLRKGDAMIAITRLVDALKLQDQLKAPVKTLSEGIKRKLCFVLSILGNPSVVLLDEPSTGMDPEGQQQMWQVIRATFRNTERGALLTTHYMAEAEAVCDRVAIMVSGRLRCIGSIQHLKSKFGKDYLLEMKLKNLAQMEPLHAEILRLFPQAAQQERFSSLMVYKLPVEDVRPLSQAFFKLEIVKQSFDLEEYSLSQSTLEQVFLELSKEQELGDLEEDFDPSVKWKLLLQEEP* 11BR010 ENSG00000008294.21 ENSG00000154258.17 -/- -/- chr17:51041501 chr17:68996014 CDS/splice-site CDS/splice-site duplication 4 2 0 73 26 high in-frame . JNK_SAPK-associated_protein-1(100%)|ABC-2_family_transporter_protein(100%),ABC_transporter(100%) . . ENSG00000008294.21 ENSG00000154258.17 ENST00000262013.12 ENST00000340001.9 upstream downstream . ^(GGCAGTTGGTGCAGCGGCGGTTGGGGTGAGAGCGCCTACGCCACCCCTCCCCTCCTCCGGCCCCGGCCCCCACCCCGCCGGGCCCAGCCCCAGCCCCGGCCCGGGCTCCAGCCCTAGTACCCGTCCCAGCCCGAGTCGGGTCCGTCCCGTGCGGGCAGGTGCCGCCCCTCTGCCGGCGACGCCCCGGGCCGCCCGCCCGTCCGCTTGCCACCATGGAGCTGGAGGACGGTGTGGTGTATCAGGAGGAGCCCGGCGGCTCCGGGGCCGTGATGTCGGAGCGGGTGTCCGGCCTGGCCGGCTCCATCTACCGCGAGTTCGAGCGGCTTATCGGGCGCTATGACGAGGAGGTGGTCAAAGAGCTGATGCCGCTGGTGGTGGCTGTGCTGGAGAACCTGGACTCGGTGTTCGCGCAGGACCAGGAGCACCAGGTGGAGCTGGAGCTGCTGCGGGACGACAACGAGCAGCTCATCACCCAGTACGAGCGGGAGAAGGCGCTGCGCAAGCACGCTGAGGAG___AAATTCATTGAATTTGAAGACTCTCAAGAACAGGAAAAAAAGGACTTACAGACCCGAGTGGAATCTTTAGAATCTCAAACAAGACAACTTGAGCTGAAAGCGAAAAACTATGCTGACCAGA___TTAGCAGACTTGAAGAAAGAGAAGCAGAACTGAAGAAGGAATATAATGCATTACATCAAAGACACA)CTGAG___ATGATCCATAATTATATGGAACATTTAGAAAGAACAAAACTTCATCAGCTCTCAGGGAGTGATCAACTAGAATCCACAGCTCATAGTAGAATTAG___AAAAGAACGCCCTATATCATTAGGAATTTTCCCATTACCTGCTGGAGATGGATTGCTTACACCTGATGCTCAGAAAGGAGGAGAGACCCCTGGATCTGAGCAATGGAAATTTCAGGAATTAAGTCAACCACGTTCTCATACCAGCCTGAAG|GTGGTCATCTTCTCGATAGTTGCTACTGATCTAAATGAATATGGATTTCTAGGGCTATTTTTTGGCACCATGTTAATACCTCCCTTCACATTGATTGGCTCTCTATTCATT(TTTTCTGAG___ATTTCTCCTGATTCCATGGATTACTTAGGAGCTTCAGAATCTGAAATTGTATACCTGGCACTGCTAATA___CCTTACCTTCATTTTCTCATTTTTCTTTTCATTCTGCGATGCCTAGAAATGAACTGCAGGAAGAAACTAATGAGAAAGGATCCTGTGTTCAG___AATTTCTCCAAGAAGCAACGCTATTTTTCCAAACCCAGAAGAGCCTGAAGGAGAGGAGGAAGATATCCAGATGGAAAGAATGAGAACAGTGAATGCTATGGCTGTGCGAGACTTTGATGAG___ACACCCGTCATCATTGCCAGCTGTCTACGGAAGGAATATGCAGGCAAAAAGAAAAATTGCTTTTCTAAAAGGAAGAAAAAAATTGCCACAAGAAATGTCTCTTTTTGTGTTAAAAAAG___GTGAAGTTATAGGACTGTTAGGACACAATGGAGCTGGTAAAAGTACAACTATTAAGATGATAACTGGAGACACAAAACCAACTGCAGGACAG___GTGATTTTGAAAGGGAGCGGTGGAGGGGAACCCCTGGGCTTCCTGGGGTACTGCCCTCAGGAGAATGCGCTGTGGCCCAACCTGACAGTGAGGCAGCACCTGGAGGTGTACGCTGCCGTGAAAGGTCTCAGGAAAGGGGACGCAATGATCGCCATCACACG___GTTAGTGGATGCGCTCAAGCTGCAGGACCAGCTGAAGGCTCCCGTGAAGACCTTGTCAGAGGGAATAAAGCGAAAG___CTGTGCTTTGTGCTGAGCATCCTGGGGAACCCGTCAGTGGTGCTTCTGGATGAGCCGTCGACCGGGATGGACCCCGAGGGGCAGCAGCAAATGTG___GCAGGTGATTCGGGCCACCTTTAGAAACACGGAGAGGGGCGCCCTCCTGACCACCCACTACATGGCAGAGGCTGAGGCGGTGTGTGACCGAGTGGCCATCATGGTGTCAGGAAGGCTGAG___ATGTATTGGTTCCATCCAACACCTGAAAAGCAAATTTGGCAAAGACTACCTGCTGGAGATGAAGCTGAAGAACCTGGCACAAATGGAGCCCCTCCATGCAGAGATCCTGAGGCTTTTCCCCCAGGCTGCTCAGCAGGAAAG___GTTCTCCTCCCTGATGGTCTATAAGTTGCCTGTTGAGGATGTGCGACCTTTATCACAGGCTTTCTTCAAATTAGAGATAG___TTAAACAGAGTTTCGACCTGGAGGAGTACAGCCTCTCACAGTCTACCCTGGAGCAG___GTTTTCCTGGAGCTCTCCAAGGAGCAGGAGCTGGGTGATCTTGAAGAGGACTTTGATCCCTCGGTGAAGTGGAAACTCCTCCTGCAGGAAGAGCCTTAAAGCTCCAAATACCCTATATCTTTCTTTAATCCTGTGACTCTTTTAAAGATAATATTTTATAGCCTTAATATGCCTTATATCAGAGGTGGTACAAAATGCATTTGAAACTCATGCAATAATTATCCTCAGTAGTATTTCTTACAGTGAGACAACAGGCGATGTCAGTGAGGGCGATCATAGGGCATAAGCCTAAGCCATACCATGCAGCCTTTGTGCCAGCAACCAAATCCCATGTTTCCTACTGTGTTAAGTTTAAAAATGCATTTATTATAGAATTGTCTACATTTCTGAGGATGTCATGGAGAATGCTTAATTTTCTTTCTCTGAACTTCAAAATATTAAATATTTTCTTATTTATTTTTTTGATTAAAGTATAAATTAAGACACCCTATTGACTTCCGGGTAAGGGGAGTCAATTGATTACCCAGCAGCACAGTATTTGCTTTTTATAATTCCCTTTTTAAATACTTGTTCTTAATTCACTGGTTTTCCTTTTCTGTCATTTTTCAGAGTTTAGATTGTGAGTCCATGTTTTGTCTGTTGTGCCTATAAAGGAAATTTGAAATCTGTATCATTCTACTATAAAGACACATGCACACGTATGTTTATTGCAGCACTGTTTACAATAGCAAAGACTTGGAACCAACCAAAATACCCACAAATGATAGACCGGATAAAGAAAACGTGACACATATACACCATGGAATACTATGCAGCCATAGAAAAGGATGAGTTCATATTCTTCACAGGGACATGGATGAAGCTGGAAACCATCATCCTCAGCAAACTAACACAGGAACAGAAAACCAAACACCGCATGTTCTCACTCATAAGTGGGAATTGAACAATGAGAATACATGGACACAGGGAGGGGAACACCACACCCTGGGGCCTGTTGGGGGGATGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTGATGTAGATGATGGGTTGATGGGTGCAGCAAAGTACCATGGCACATGTATACCTGTGTAACAAACCTGCACATTCAGCACATGTATCCCAGAACTTAAAGTATAATAAAAATAAATAAATAATTTCAGTAAGAACCTGATCAAGTTGAACATGTATATATATGTTATACACAAGTTTGAAACATATTTCTGTTTTTATATGTTTTCTTATGATGCAAGGGCATACTCTTATGCAAATAATTAAAACTTCATAGGTCTTAATTTCCCATATCTCTATATATTATTATGACCTATCCAACTGGTAACCCTATGAACACCTTAAAATAAACTTGTATACTCTTATTTAGGTGAGTTTTTCTTGTTAATACTATTATTATTGCTATCTAATTGAATACTTGAAGGAAGTTGTGTGAAAGACCTTGGCTTTGATTTTAGTTCTTATATTCTTCTAGTTTTTGAAAATAAAACACTTCCATCAACCCGTAA)$ MELEDGVVYQEEPGGSGAVMSERVSGLAGSIYREFERLIGRYDEEVVKELMPLVVAVLENLDSVFAQDQEHQVELELLRDDNEQLITQYEREKALRKHAEEKFIEFEDSQEQEKKDLQTRVESLESQTRQLELKAKNYADQISRLEEREAELKKEYNALHQRHTEMIHNYMEHLERTKLHQLSGSDQLESTAHSRIRKERPISLGIFPLPAGDGLLTPDAQKGGETPGSEQWKFQELSQPRSHTSLK|VVIFSIVATDLNEYGFLGLFFGTMLIPPFTLIGSLFIFSEISPDSMDYLGASESEIVYLALLIPYLHFLIFLFILRCLEMNCRKKLMRKDPVFRISPRSNAIFPNPEEPEGEEEDIQMERMRTVNAMAVRDFDETPVIIASCLRKEYAGKKKNCFSKRKKKIATRNVSFCVKKGEVIGLLGHNGAGKSTTIKMITGDTKPTAGQVILKGSGGGEPLGFLGYCPQENALWPNLTVRQHLEVYAAVKGLRKGDAMIAITRLVDALKLQDQLKAPVKTLSEGIKRKLCFVLSILGNPSVVLLDEPSTGMDPEGQQQMWQVIRATFRNTERGALLTTHYMAEAEAVCDRVAIMVSGRLRCIGSIQHLKSKFGKDYLLEMKLKNLAQMEPLHAEILRLFPQAAQQERFSSLMVYKLPVEDVRPLSQAFFKLEIVKQSFDLEEYSLSQSTLEQVFLELSKEQELGDLEEDFDPSVKWKLLLQEEP* 11BR010 ENSG00000072518.20 ENSG00000255506.1 +/+ -/- chr11:63839560 chr11:92749069 CDS/splice-site exon/splice-site inversion 4 3 0 115 21 high out-of-frame . . . . ENSG00000072518.20 ENSG00000255506.1 ENST00000402010.6 ENST00000529884.1 downstream downstream mismatches(1) ^(AAACAGAGCCGAAGCTTCGTCTTCGGAATCGAGGAGGAGAGCGCGTCCCCGGGGTTTACCTTCTTCGGCTGTTTCCGGAATTCACCCGTAGTCTGTGGCCGGGAGGAGAAGGCGCGCCCCACCTCCCGTTTCTAGCCGCTTCGGATGTTTCCGGCTGCTGCCGGCGAAAAGAGCCGAGGGCCGGCGGTGGTGGCGGCCATGTTGGGAGCAGCAGGTCCGGCGGCGGCTGCCTGTGTGCCGGGCGCGGAGCAGTGCCGCTGAGGGCAGGGGAGGAGCGAGGCAGGCGGCCGGCTGCGGCGGCAGAGAGTAGGCGGAGCGGCGCGGCCCGGCCGAAAGGCGGCACAGCCCAGCCGGGGGTCGGGGGGGTGCGGTCCGGAGCCGCTCGGAGCCGGCGCGGCCTAGCCCG)AGCGGCGCATCCCCGGGCTGGCGTGAGCGGCTGCCCGGCCTCCCCGCACCCCCGGCCGGGGCCCATGCGGCGGGTGCTCCTGCTGTGAGAAGCCCCGCCCGGCCGGGCTCCGCGCCTTCCCTTCCCTCCCTTCCTCCAAGCTTCTCGGTTCCCTCCCCCGAGATACCGGCGCCATGTCCAGCGCTCGGACCCCCCTACCCACGCTGAACGAGAGGGACACGGAGCAG|GTGGAGAAATAGAGAAATGACCTTCTCAAAGAATACTCAGGAGCTGTTATAAAGGTTGAGGCTGGAATTCAGACCTTTTTGTCTATGGTCTCAGACTACTGCATTCCTGGGAAGACAAGTGCTTCCTGCCATTTCTGGAAAGAAAAGTAT(ACACAAACAGTAAATTAAAGGGTAGATCTCAAAGGAACAGCAACTCTTGAAGATAAACTTTCTGAAAGGTGAAGTCATTGAACTAAACTTAACTTGCGCTATCACCCACGGAGAAAAAGCAAAAGAAGGCAGTATTAAACTGTCTGCCCTTAATGTCATTACATGTGGTTTCTCTTATTTGACCTATG)$ MSSARTPLPTLNERDTEQ|vek* 11BR010 ENSG00000099308.10 ENSG00000214263.2(17628),ENSG00000230040.2(40843) +/+ ./- chr19:18142015 chr13:67285334 CDS/splice-site intergenic translocation 2 3 0 43 13 high out-of-frame . Domain_of_unknown_function_(DUF1908)(100%),Protein_kinase_domain(100%)| . . ENSG00000099308.10 . ENST00000262811.10 . downstream downstream mismatches(1) ^(ATGGACGAGTCGAGCCTCCTGCGGCGCCGCGGGCTCCAG___AAGGAGCTGAGCCTGCCACGCCGAGGACGTGG___CTGCCGCAGCGGGAACCGCAAGAGCTTGGTGGTAGGAACGCCCTCCCCGACCCTCTCCCGGCCCCTGTCGCCATTGTCGGTCCCAACGG___CAGGCAGCAGCCCCTTGGATAGTCCTCGGAATTTCTCGGCTGCCTCTGCCCTAAATTTCCCCTTTGCCCGGAG___GGCAGACGGCAGAAGATGGTCCCTCGCGTCTCTCCCATCTTCCGGCTATGGAACCAACACACCCAGCTCCACCCTCTCG___TCAAGCTCATCCTCCCGGGAACGTCTCCACCAGCTTCCCTTCCAGCCGACGCCGGACGAGCTGCACTTCCTGTCCAAGCACTTCCGCAGCTCAGAGAATGTGCTTGATGAGGAAGGCGGCCGGTCACCCCGCCTCCGACCCCGCTCTCGCAGTCTCAG___CCCGGGCCGTGCAACGGGGACCTTCGACAATGAGATTGTCATGATGAATCACGTGTACCGGGAGAGGTTCCCCAAG___GCCACAGCACAGATGGAGGGCCGTCTGCAGGAGTTCCTGACGGCCTACGCGCCCGGCGCCCGGCTGGCGCTGGCTGATGGCGTCTTGGGCTTCATCCACCACCAGATCGTCGAGCTGGCCCGAGACTGCTTGGCCAAGTCTGGCGAGAACCTCGTCACCTCCCGCTACTTCCTAGAGATGCAGGAGAAGCTGGAGCGGCTTCTGCAGGAT___GCCCATGAGCGTTCGGACAGTGAGGAGGTCAGCTTCATCGTCCAGCTTGTCCGGAAACTGCTGATCATCATCTCACGGCCAGCTCGGCTGCTGGAGTGTCTG___GAGTTTGACCCTGAGGAATTTTACCACCTGCTGGAGGCGGCTGAGGGCCATGCGCGGGAGGGCCAAGGCATTAAGACTGACCTTCCACAGTACATCATTGGGCAGCTGGGCCTGGCCAAGGACCCCCTGGAGG___AGATGGTGCCACTGAGTCACCTCGAAGAAGAACAGCCCCCAGCACCTGAGTCCCCAGAG___AGCCGCGCCCTGGTCGGCCAGTCACGGAGGAAGCCATGCGAAAGCGACTTTGAGACCATCAAACTCATTAGCAACGGAGCCTATGG___GGCCGTCTACCTGGTGCGGCACCGTGACACACGGCAGCGCTTTGCCATCAAGAAGATCAACAAACAGAACTTGATCCTGCGTAACCAGATCCAGCAGGTCTTTGTGGAGCGTGACATTCTCACCTTTGCCGAGAACCCCTTTGTGGTCAGCATGTTCTGCTCCTTTGAGACCCGGCGCCACCTATGTATGGTCATGGAATACGTGGAAG___GCGGCGACTGCGCCACGCTCCTGAAGAACATGGGCCCGCTGCCCGTGGACATGGCCCGCCTGTACTTCGCCGAGACGGTGTTGGCGCTGGAGTACCTGCATAACTATGGCATCGTGCACCGTGACCTCAAACCAGACAA___TCTGCTCATCACCTCGCTTGGCCACATCAAGCTCACGGACTTCGGCCTGTCCAAGATCGGCCTCATGAGCATGGCCACCAACCTCTATGAGGGCCACATCGAGAAGGACGCCCGAGAGTTCATCGACAAGCAG___GTGTGTGGGACGCCGGAGTACATAGCCCCCGAGGTGATCTTCCGCCAGGGCTATGGGAAGCCAGTGGACTGGTGGGCCATGGGCGTCGTCCTCTATGAGTTTCTGGTGGGCTGCGTGCCTTTCTTTGGAGATACCCCCGAGGAACTCTTCGGTCAGGTGGTCAGCG___ATGAGATCATGTGGCCAGAGGGAGATGAGGCCCTTCCAGCAGACGCCCAGGACCTCATCACCAGGTTGCTCCGGCAGAGCCCGCTGGACCGTCTGGGCACTG___GTGGCACCCACGAAGTGAAGCAGCACCCCTTTTTCCTGGCCCTGGACTGGGCAGGGCTTCTCCGACACAAAGCCGAGTTCGTGCCCCAGCTCGAAGCTGAGGATGATACCAGCTACTTTGACA___CACGTTCGGAACGTTACCGCCATCTGGGCTCCGAGGACGACGAGACCAATGATGAAGAATCGTCCACAGAGATCCCCCAGTTCTCCTCCTGCTCCCACC)GGTTCAGCAAG___GTCTACAGCAGCTCTGAGTTCCTGGCCGTCCAGCCCACTCCTACCTTCGCTGAAAGGAGCTTCAGTGAAGACCGGGAGGAGGGGTGGGAGCGCAGCGAAGTGGACTATGGCCGCCGGCTGAGTGCTGACATCCG|AGCAAGCTATGAATGGGGAcGCAATGTGGCAGCAGTTCTTTTGCTGATAATGCCAACATATTGTGGTGTTTTATCTGGGAGCCAGGTCTCTGTCTTTTCTCCCTTTGTTGATTGGTC MDESSLLRRRGLQKELSLPRRGRGCRSGNRKSLVVGTPSPTLSRPLSPLSVPTAGSSPLDSPRNFSAASALNFPFARRADGRRWSLASLPSSGYGTNTPSSTLSSSSSSRERLHQLPFQPTPDELHFLSKHFRSSENVLDEEGGRSPRLRPRSRSLSPGRATGTFDNEIVMMNHVYRERFPKATAQMEGRLQEFLTAYAPGARLALADGVLGFIHHQIVELARDCLAKSGENLVTSRYFLEMQEKLERLLQDAHERSDSEEVSFIVQLVRKLLIIISRPARLLECLEFDPEEFYHLLEAAEGHAREGQGIKTDLPQYIIGQLGLAKDPLEEMVPLSHLEEEQPPAPESPESRALVGQSRRKPCESDFETIKLISNGAYGAVYLVRHRDTRQRFAIKKINKQNLILRNQIQQVFVERDILTFAENPFVVSMFCSFETRRHLCMVMEYVEGGDCATLLKNMGPLPVDMARLYFAETVLALEYLHNYGIVHRDLKPDNLLITSLGHIKLTDFGLSKIGLMSMATNLYEGHIEKDAREFIDKQVCGTPEYIAPEVIFRQGYGKPVDWWAMGVVLYEFLVGCVPFFGDTPEELFGQVVSDEIMWPEGDEALPADAQDLITRLLRQSPLDRLGTGGTHEVKQHPFFLALDWAGLLRHKAEFVPQLEAEDDTSYFDTRSERYRHLGSEDDETNDEESSTEIPQFSSCSHRFSKVYSSSEFLAVQPTPTFAERSFSEDREEGWERSEVDYGRRLSADIr|asyewgrnvaavlllimptycgvlsgsqvsvfspfvdw 11BR010 ENSG00000178607.16 ENSG00000108854.16 -/- -/- chr17:64098121 chr17:64551704 CDS/splice-site CDS/splice-site duplication 2 3 0 44 198 high out-of-frame . |HECT-domain_(ubiquitin-transferase)(100%) . . ENSG00000178607.16 ENSG00000108854.16 ENST00000433197.4 ENST00000262435.14 upstream downstream . ^(GCTGCCTAGTCAGTTCTGCGTCCGCTGAGGCTCGGTCACCGCCTCGCTGTCGTCGCGGCGCCCCCGCCCCGTCCTCTGTCCGTACCGCCCCCGGAGCCAGGGCCGAGTCCTCGCCATGC)CGGCCCGGCGGCTGCTGCTGCTGCTGACGCTGCTGCTGCCCGGCCTCGGG___ATTTTTGGAAGTACCAGCACAGTGACGCTTCCTGAAACCTTGTTGTTTGTGTCAACGCTGGATGGAAGTTTGCATGCTGTCAGCAAGAGGACAGGCTCAATCAAATGGACTTTAAAAGAAG|GCTCTATGTGAACTGGAGATTTTTACGAGGCATTGAGGCTCAATTCTTGGCTCTGCAGAAAGGATTTAATGAAGTAATTCCACAACATCTGCTGAAGACATTTGATGAGAAGGAGTTAGA(G___CTCATTATTTGTGGACTTGGAAAGATAGATGTTAATGACTGGAAGGTAAACACCCGGTTAAAACACTGTACACCAGACAGCAACATTGTCAAATGGTTCTGGAAAGCTGTGGAGTTTTTTGATGAAGAGCGACGAGCAAGATTGCTTCAGTTTGTGACAGGATCCTCTCGAGTGCCTCTGCAGGGCTTCAAAGCATTGCAAG___GTGCTGCAGGCCCGAGACTCTTTACCATACACCAGATTGATGCCTGCACTAACAACCTGCCGAAAGCCCACACTTG___CTTCAATCGAATAGACATTCCACCCTATGAAAGCTATGAAAAGCTATATGAAAAGCTGCTAACAGCCATTGAAGAAACATGTGGATTTGCTGTGGAATGACAAGCTTCAAGGATTTACCCAGGACTCTATTTATACAACCCTGACTGACAGCCTCCTTTCAGCAGAGTTTCAAAGAATATGCTGAAATACAGGAAAACACTCCCCCCCCCCCCCTTTTTTTTTTTTTTTTTACATTTTAGGACACTGTGAGGGGAAAGGACAATTTTGAAATTCCTTTTCAAGGAAAAAAAAGGTCTTTATGCTTTGCCATGAGGCCACATTCAGCTGCTATTTAAACTTAATATCTTGAACCTAAAGAATGCTGACTTTTCCTACATTTCCAGAGTTAGGCAGTATTCTACACTTAAAGACTACTACTATTTTTATAAAAGGTAATCTATTCAAATTTCTTCACAGATTTCAAGTCTCTCAAACATCAAGACAACTTCAGCAGTCGGTACAAGTCACATTTCATTTTGATTGAATACATGATCTTGAACAGCTCCTGTACTTGCTCTTTGTAAAAAAAAATAAAATTATTTTGAATTATTCTACCTTTGTAAACAATTGGCTAAAAGAATCATCTTTAAGAAATTAAGCCATTTACATGTTTGTGTTTTTCTATAGCAGAGCATTATATTTTGCATTATATGTTTCAACCTAGTCTAAGTGGGTCTTTTTTACATTTTTCAAGAACGGATTTCCTGGAATACAGCGATATAATTTTGGTTGTCAAATTCCTAATGCAACCATTTAGTCTAAACTTAGTCATTTATTTGTGACAATAAGATGTGTTCAGGGGCTCCCTGTTTTTAAGAGACTCTTTTAAAAAAAAAAAAACCTAATGTTTTTATCTTGAGTCAATATGATTAGGTATTTTGGATTTACTTTTAATCTTAAAATACTGCATTTTTATAGCTTCTCAGAGCATGTGGATGGGATGGGATTTTCGTTATTTTGCTGGGTCAGCTTATCTTTAATATATGGACTATTCCTATAAACCAAAGTCTCTGACAAGTGCACCTAATTTATATTGTATTTTAACTACAGTGTAAGTTTCCATTAACAAAACCATCCTAAAGCGTTAACTGCTCATAATTTTAATCAGCTACAGTTATGAAAAAGGAAGAATTTTGCTCTAAAGATTATTAATAAGCTTAGAAAATCCTGCTTTTACCTAACAGAATGAAGTGGGGTTGAGGGGCGGTAGTATGAACAGTGATTCTAACTCTATGGCGTAAATTACTTTGAAGAGTTCATTTTGGAAGTAAGGGAATCCCGCTTCCCTTGGTGTTGAAGATCTGCATCTGATTTTGAAACGTCCAGATTTAGCTTTCAAGGTGCGTGCATGTTGAATGATCCAGAAGCAACGAAAACTCTGGGGTGAGGGATTGAAAAAATCTGAAATCACAGTTGGATTTTTAAATTCAACCATCAAAAATATGTACTATCAGTTTTTTTTTACATTGATGTGAAATAAGCAAATTTTCATGATAATTAAGCTGCAAAATTTAAAGTTATCAAGTAAATAGGTCCTCTGTGTTCTGTTTCATGTGATGGAGTGGGTTTCAGTCTGTGTTCTTGGAGCCAAAGGGTTCCTCAGGGGTGCCTCAGGAGTAATGGTTTAAGAGAAGAGGGGCAATGAGAGGGAGCGAGGGGGAAGGCCTAGTTGGTATTTGAGCAGGGGCCTTAGGCTCCATATCCCCACCCCCTTTACCCAGAACAGCCCATTTTTCTTATGTATATTGGAATTTCAAGTAAGCTTTCATGGGGTGCAGTGGGGCGGGGAGGAATGGATGGGATAAAAAAAGTGGAGATTTTGCTGCTTTAAAAAAGTTGAGAACTACTTGTGTAGTTTTTAAGTATTTTAATGTATTTCATTTGGCCAAATTCAACTGCCACAAGCAAGCTAGTCATAGTTGTAACTGTGCAGTGGTAATATGCTTATGCCTACCTTTTTCCTCTCAAACAATTTGTTTTTTTTACATTGCATTCTGAGTACTGAAGAGCATCTTGAAATGTATGGAAGTGGTTTCTATGCTATTTGATAATCAGTAATGTTCAGCTGTCATGATAGTACTTTACTGGTTGCAGACCCATCTCTCTTTTATATTAAAGCACTAGTGCAGTTTATAATTGTGCCTACTTTTAAAATCTTTCAGTAAAAAAGTACATAATGAATACAGAAATCATAACTGACAGGGATACAGTAATAATGAAATGCTACTATCACTTATTTTAATATACAATATAAAGCAGGCAAATACCATTGCTTTTTGAGTGCCTTTTTAACTTTATACTAATGACTTAATAGAGCTTTAAAAGAAAGAAATTGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAATTTAGCCGGGCATGGTGGCGCACTCCTGTAATCCAACTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGATTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACTCCGTCCCCGCCCAAAAAAAAAAAAAAAAGAAATTACTCTCCATAACAGTCTATGTTATCACCAACATATATAAAAACATGATTTAGATTTCCATTTCAAAGTTACATTACCCGATTACTTCCAAATAGGTGCTAAGCAAAAACCCCCAATGTATTATTGAACCATGGACTTGCACCTCATGTTTAATGTGAATATTTATTTCCATGTCCCTCTTAACTGGTTTTTTCTTGTCTTCCCTCTAGCTGTATTGTTATTTCAGATATGTGATATCTGTTTTCATACTCTTGCCTTTCCATCATGAATGCTTAGTTATGAACAGAGATTCCTTTGTAGAGCTCATAGGCAGTACAGAGAGGTAAGTCTTGCCTCAGAGGGCCTTGTATCTTGGTGTAGTTTTTAAATAGTGCATAGTGTATAGTGTATAGTGTACATTTTGTTTTGCACATAGTTTGTTGCCCCGAATGGGTTTTTTACCAAGCCTTTTTTTCTTTCATGTATTTACAGTCCGGAGCACAAGATTCTCTTCTTTCAAATACAATGTAATTCGCTTTACTTTACAACACTAAATCTGGGCTTTGAATTTCCAGTGCATTGGACTGATTGGATTGTTGGGAGTTAGAGGCTGTTCCAACCATCCTTAGTTTGGGAGAGTGGCTCCTTCTGCTTGTTTTCTAAGCGTACAGTCAACGGGTGCCATTTGTGGTATTTAACATGTTAGGATGATTGTTCCAAATGCTGAGTTGTTTTATTTCTAGATGTAATTAGTTCACTTTATGTAATATTCTTCTCTCAGACTGACTTTAAAAACAAAGTTTTATCATTTTCATTGTATTTGTATTTATTACAGAGTGTTTTAGCTTTGATATTCTTTGTATTTTCATTCATTTGTTACATGAGCTTTATCAGTAACATCTGTATAAATGGTTTTTAAAAATTAACTATGTATGTGCCCATGCCGAAGTCGAGCAATAAAATCAATGCTGTTTGCACTGTCACAGCATCAACGTTTTTAAAGAA)$ MPARRLLLLLTLLLPGLGIFGSTSTVTLPETLLFVSTLDGSLHAVSKRTGSIKWTLKE|gsm* 11BR010 ENSG00000146670.10 ENSG00000131620.17 -/- +/+ chr11:65083364 chr11:70180004 CDS/splice-site CDS/splice-site inversion 2 2 0 24 56 high out-of-frame . |Calcium-activated_chloride_channel(100%) . . ENSG00000146670.10 ENSG00000131620.17 ENST00000275517.8 ENST00000355303.9 upstream upstream . ^(CTTCCCGGTTGGCGCGCGCCCGGGGCGGCGGCGCTGGAGGAGCTCGAGACGGAGCCTAAGTTATGTCTGGGAGGCGAACGCGGTCCGGAGGAGCCGCTCAGCGCTCCG___GGCCAAGGGCCCCATCTCCTACTAAGCCTCTGCGGAGGTCCCAGCGGAAAT)CAGGCTCTGAACTCCCGAGCATCCTCCCTGAAATCTGGCCGAAG___ACACCCAGTGCGGCTGCAGTCAGAAAGCCCATCGTCTTAAAGAGGATCGTGGCCCATGCTGTAGAG___GTCCCAGCTGTCCAATCACCTCGCAGGAGCCCTAGG|GAATCTGGTACAATATCCTCAGAGGCATTGGGAAGCTTGCTGTCATCATCAAT___GCCTTCGTGATCTCCTTCACGTCTGACTTCATCCCGCGCCTGGTGTACCTCTACATGTACAGTAAGAACGGGACCATGCACGGCTTCGTCAACCACACCCTCTCCTCCTTCAACGTCAGTGACTTCCAGAACGG(CACGGCCCCCAATGACCCCCTGGACCTGGGCTACGAGGTGCAGATCTGCAG___GTATAAAGACTACCGAGAGCCGCCGTGGTCGGAAAACAAGTACGACATCTCCAAGGACTTCTGGGCCGTCCTGGCAGCCCGGCTGGCGTTTGTCATCGTCTTCCAG___AACCTGGTCATGTTCATGAGCGACTTTGTGGACTGGGTCATCCCGGACATCCCCAAGGACATCAGCCAGCAGATCCACAAGGAGAAGGTGCTCATGGTGGAGCTGTTCATGCGGGAGGAGCAAGACAAGCAGCAGCTGCTGGAAACCTGGATGGAGAAGGAGCGGCAGAAGGACGAGCCGCCGTGCAACCACCACAACACCAAAGCCTGCCCAGACAGCCTCGGCAGCCCAGCCCCCAGCCATGCCTACCACGGGGGCGTCCTGTAGCTATGCCAGCGGGGCTGGGCAGGCCAGCCGGGCATCCTGACCGATGGGCACCCTCTCCCAGGGCAGGCGGCTTCCCGCTCCCACCAGGGCCCGGTGGGTCCTGGGTTTTCTGCAAACATGGAGGACCACTTTCTGATAGGACATTTTCCTTTCTTCTTTCTGTTTTCTTTCCCTTGTTTTTGCACAAAGCCATTATGCAGGGAATATTTTTTAATCTGTAGTATTCAAGATGAATCAAAATGATGGCTGGTAATACGGCAATAAGGTAGCAAAGGCAGGTGCTTTGCAGAAAGAATGCTTGGAAACTTGAGTCTCCCTAGAGGTGAAAAGTGAGCAGAGGCCCGTAGAAACCCTCCTCTGAATCCTCCTAATTCCTTAAGATAGATGCAAAATGGTAAGCCGAGGCATCGCGCAAAAGCTGGTGCGATGCTTCAGGGAAAATGGAAAACCCACGCAAGAATAATGATTGATTCCGGTTCCAAAAGGTGTCACCTACCTGTTTCAGAAAAGTTAGACTTTCCATCGCCTTTTCCTTCCATCAGTTGAGTGGCTGAGAGAGAAGTGCCTCATCCCTGAGCCACACAGGGGGCGTGGGAGCATCCCAGTTATCCCTGGAAAGCTAGAAGGGGACAGAGGTGTCCCTGATTAAGCAGGAAACAGCACCCTTGGCGTCCCCAGCAGGCTCCCCACTGTCAGCCACACACCTGCCCCCATCACACCAAGCCGACCTCAGAGTTGTTCATCTTCCTTATGGGACAAAACCGGTTGACCAGAAAATGGGCAGAGAGAGATGACCTCGGAAGCATTTCCACAGATGGTGTCAGGGTTTCAAGAAGTCTTAGGGCTTCCAGGGGTCCCCTGGAAGCTTTAGAATATTTATGGGTTTTTTTTCAAATATCAATTATATGGTAGATTGAGGATTTTTTTTCTGTAGCTCAAAGGTGGAGGGAGTTTATTAGTTAACCAAATATCGTTGAGAGGAATTTAAAATACTGTTACTACCAAAGATTTTTATTAATAAAGGCTTATATTTTGGTAACACTTCTCTATATTTTTACTCACAGGAATGTCACTGTTGGACAATTATTTTAAAAGTGTATAAAACCAAGTCTCATAAATGATATGAGTGATCTAAATTTGCAGCAATGATACTAAACAACTCTCTGAAATTTCTCAAGCACCAAGAGAAACATCATTTTAGCAAAGGCCAGGAGGAAAAATAGAAATAAATTTGTCTTGAAGATCTCATTGATGTGATGTTACATTCCCTTTAATCTGCCAACTGTGGTCAAAGTTCATAGGTGTCGTACATTTCCATTATTTGCTAAAATCATGCAATCTGATGCTTCTCTTTTCTCTTGTACAGTAAGTAGTTTGAAGTGGGTTTTGTATATAAATACTGTATTAAAAATTAGGCAATTACCAAAAATCCTTTTATGGAAACCATTTTTTTAAAAAGTGAATGTACACAAATCCACAGAGGACTGTGGCTGGACATTCATCTAAATAAATTTGAATATACGA)$ MSGRRTRSGGAAQRSGPRAPSPTKPLRRSQRKSGSELPSILPEIWPKTPSAAAVRKPIVLKRIVAHAVEVPAVQSPRRSPR|esgtissealgsllsssmps* 11BR010 ENSG00000078114.18 ENSG00000270111.3(25227),ENSG00000228997.1(288647) -/- ./- chr10:21172383 chr10:10487576 CDS/splice-site intergenic deletion 3 1 0 86 2 high out-of-frame . LIM_domain(100%)| . . ENSG00000078114.18 . ENST00000417816.2 . upstream downstream . ^(CCTGCGCGGCGGCGGCGGCGAGGCGGGGGAGCGAGTGAGCGCGAGGGGCGGGCGCGAGTGACTGTGTGAGTCACCCGTACCTGGAGTGCGAGCGACGCAGAGCCAGCGGCGCGGAGCCGGAGCCGGAGCCGAGACCCAGCGCCTGCGAGCCCGAGAGCGCGGCCGGCCCCAGGCGCCAGGCCCCGTCGCCCTCCCCGTGCACTCACCCGTGGCCCGGCGCCGACTCCCTACCCGGCGCCCGCCGCCCGCAGCCCTCCCGCCTGCCAGGAGGCGGTGCGGGGCTCGCCGGGGGATGTCACAGCGGCTCCTGGGAGCCAGCAGCCGCCGCCGCCGCCGCCCCCGGGAACCGCGATCATGAACCCCCAGTGCGCCCGTTGCGGAAAA)GTCGTGTATCCCACCGAGAAAGTCAACTGCCTGGATAAG___TATTGGCATAAAGGATGTTTCCATTGTGAGGTCTGCAAGATGGCACTCAACATGAACAACTACAAAGGCTATGAAAAGAAGCCCTATTGTAATGC|GCGATATTGTAATACCCAATGGAAGGATGGGGTCATGGACGTCATGAAAAAGCCAGG___TGCTTTTTCCAGTCTAGATTTAGAAGCTTGAGAATGAAGACCACCATTTCCACCTCTAC MNPQCARCGKVVYPTEKVNCLDKYWHKGCFHCEVCKMALNMNNYKGYEKKPYCNa|rycntqwkdgvmdvmkkpgafssldlea* 11BR010 ENSG00000120594.17 ENSG00000148482.12 +/+ +/- chr10:19817191 chr10:17989291 CDS/splice-site intron inversion/3'-3' 1 2 0 151 7 high out-of-frame . . . . ENSG00000120594.17 ENSG00000148482.12 ENST00000377252.5 . downstream downstream duplicates(1) ^(AGACTGCTGCAGCCCTAACCTTCCCAGGGCTCAGCTCTTTGGAGCTGCCCATTCCTCCGGCTGCGAGAAAGGACGCGCGCCCTGCGTCGGGCGAAGAAAAGAAGCAAAACTTGTCGGGAGGGTTTCGTCATCAACCTCCTTCCCGCAAACCTAAACCTCCTGCCGGGGCCATCCCTAGACAGAGGAAAGTTCCTGCAGAGCCGACCAGCCCTAGTGGATCTGGGGCAGGCAGCGGCGCTGGCTGTGGAATTAGATCTGTTTTGAACCCAGTGGAGCGCATCGCTGGGGCTCGGAAGTCACCGTCCGCGGGCACCGGGTTGGCGCTGCCCGAGTGGAACCGACAGTTTGCGAGCCTCGGCTGCAAGTGGCCTCTCCTCCCCGCGGTTGTTGTTCAGTGTCGGGTGAGGGCTGCGAGTGTGGCAAGTTGCAAAGAGAGCCTCAGAGGTCCGAAGAGCGCTGCGCTCCTACTCGCGTTCGCTTCTTCCTCTTCTCGGTTCCCTACTGTGAAATCGCAGCGACATTTACAAAGGCCTCCGGGTCCTACCGAGACCGATCCGCAGCGTTTGGCCCGGTCGTGCCTATTGCATCGGGAGCCCCCGAGCACCGGCGAAGGACTGGCGGGTGGGGTAGGGAGGTGGCGGCGGCGGCAT)GGCGAGGTTCCCGAAGGCCGACCTGGCCGCTGCAGGAGTTATGTTACTTTGCCACTTCTTCACGGACCAGTTTCAGTTCGCCGATGGGAAACCCGGAGACCAAATCCTTG|AACATTGAATAACAATTGAGCCTCGAAGCAACAAGAGTGACCCTGCAGGAAACTGCCAGAGGCTTGTGGAAAATTTTAACCAGCTCAGGCTTTGCTGGAGTGGGGATCATTGGTCCACCATCATTATCCCTG___AGATGGGGTTTCGTCATGTTCCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAATC MARFPKADLAAAGVMLLCHFFTDQFQFADGKPGDQIL|eh* 11BR010 ENSG00000105085.11 ENSG00000170921.15 -/- +/+ chr19:16627872 chr17:63237814 CDS/splice-site CDS/splice-site translocation 1 1 0 38 40 high out-of-frame . |Ankyrin_repeat(100%),Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%),Tetratricopeptide_repeat(100%) . . ENSG00000105085.11 ENSG00000170921.15 ENST00000263390.8 ENST00000424789.6 upstream upstream mismappers(1) ^(ACTGGAGTTTGGTTCTCGAGGCGGCGGCAGCGAGCGGCGGCGGCTCCGGCGGCTCCTCCTCCTCCTTTGGTGGCGGCGGCGGCCCGGGACCGAGACCCGGCCCCGGCTCCCCTCTCCGCCACCCCGCGCGCCCCCAACCCCCCGGCGCCGCGGGGAACATGCGGCTCCGGCTCCCGGAGGCCGGCGAGTGAGTGACCCCCGTCCCCCGCCTCAGCCCGCCCGCCCGCTGGCCCGGCCG)CAACCCCCCGCCTCGCCCAGGCAATGACAGCGGCTCCGGCGTCTCCGCAGCAGATCAGGGACCGGCTGCTGCAGGCCATCGACCCCCAGAGCAAC|CTACATTAACAAGCTATTCTGAAAATGTGGAACGCACAAAATATGCTGGGGAAAGCAGTAAAGAATTAGGATCTGGAGGAAACATAAAACCTTGGCAaTCTCAAAAATCCAGCATGGACTCCTGTTTGTATCGAGTAGATGAAAACATGACTGCTTCCACCTATAGTCTGAATAAGATCCCAGAGAGAAATTTGGAAACAGTGTTATCTCAATCAGTACAGTCTATTCCTTTGTATCTCATGCC(ACGGCCAAATTCAGTAGCAG___CCACCAGCTCTGCCCACTTGGAAGACCTTGCTTACCTGGATGAGCAGAGACATACACCTTTGAGAACTTCTCTACGAATGCCAAGACAGAGCATGGGTGGTGCTCGCACACAGCAGGATTTAAGAG___TTCGCTTTGCACCTTATAGGCCTCCAGATATCTCCTTGAAGCCTCTGCTCTTTGAAGTGCCCAGCATCACTACAGAGTCAGTGTTTGTTGGCCGAGATTGGGTTTTCCACGAAATAGATGCTCAACTTCAAAGTTCAAATGCCAGCGTGAACCAAGGAGTAGTGATTGTGGGAAACATTGGATTCGGCAAAACTGCCATCATCTCCAGACTGGTGGCCCTCAGCTGCCATGGTACAAGGATGAGACAGATCGCCTCAGACAGCCCACATGCCTCCCCCAAAC___ATGTGGATGCCAACAGAGAGCTGCCACTCACACAGCCACCTTCAGCCCACTCATCTATCACCAGTGGAAGCTGCCCAGGAACTCCGGAAATGCGCAGGCGGCAGGAGGAGGCTATGCGAAGACTAGCCTCGCAG___GTGGTTGCCTATCACTATTGTCAAGCAGATAATGCCTACACTTGCTTGGTGCCAGAATTTGTCCACAATGTTGCTGCCTTGCTCTGCCGCTCACCTCAGCTGACAGCCTATCGGGAGCAGCTTCTTCGGGAACCTCACCTGCAGAGCATGCTGAGCCTTCGTTCCTGTGTTCAAGACCCCATGGCCTCCTTCCGGAGGGGAGTTCTGGAGCCACTAGAAAATCTCCATAAAG___AGAGAAAAATCCCAGATGAAGATTTCATCATTTTAATTGATGGATTAAATGAAGCAGAATTTCACAAACCGGATTATGGGGATACAATTGTATCGTTTCTGAGTAAAATGATCGGAAAGTTTCCTTCTTGGCTCAAACTAATTGTAACAGTTAGGACCAGTTTACAG___GAAATTACCAAGCTGCTGCCTTTCCATAGGATTTTTTTGGATCGACTAGAAGAGAATGAAGCCATAGACCAGGACCTGCAGGCTTACATCCTGCACCGGATACACAGCAGCTCAGAGATCCAGAATAACATTTCACTTAATGGCAAAATGGACAATACTACATTTGGCAAACTCAGTTCTCATCTCAAGACCCTCAGTCAAGGGTCCTATCTATATCTGAAACTTACATTTGACCTCATAGAGAAAGGCTATCTAGTGTTAAAGAGCTCTAGCTACAAAGTAGTTCCTGTTTCGCTCTCAGAGGTTTATTTACTCCAGTGCAATATGAAGTTCCCAACCCAGTCTTCCTTTGACCGGGTGATGCCTCTCCTGAATGTGGCAGTGGCCTCTCTCCACCCACTGACTGATGAGCATATCTTCCAGGCCATCAATGCTGGGAGCATTGAAGGCACACTAGAATGGGAGGATTTTCAGCAGAGAATGGAGAACCTCTCCATGTTCCTAATCAAGCGCAGAGACATGACTCGTATGTTTGTACATCCTTCTTTTCGAGAATGGCTTATCTGGAGAGAAGAAGGAGAGAAAACCAAATTTCTCTGTGATCCGAG___GAGTGGTCACACGTTACTTGCCTTCTGGTTTTCCCGCCAAGAGGGAAAACTAAACCGACAGCAGACTATTGAACTGGGACATCACATCCTCAAAGCACACATTTTTAAG___GGTTTGAGTAAAAAAGTTGGTGTATCATCCTCCATCCTCCAAGGTCTCTGGATCTCTTATAGCACAGAAGGTCTTTCCATGGCACTGGCGTCTTTACGAAATCTCTACACTCCAAATATAAAG___GTCAGCCGACTGCTGATTTTGGGAGGTGCCAATATTAATTACCGGACAGAGGTTTTAAATAATGCTCCAATTCTATGTGTTCAGTCCCATCTTGGTTACACAGAAATGGTAGCCCTGCTGCTGGAGTTCGGGGCCAACGTGGATGCCTCTTCTGAAAGTGGCCTGACTCCCCTGGGATATGCTGCAGCAGCAGGGTACCTGAGCATTGTGGTGCTGCTGTGCAAGAAACGGGCCAAG___GTGGATCATTTGGATAAGAACGGGCAGTGTGCTTTGGTTCATGCTGCACTCCGAGGTCATCTGGAGGTTGTCAAGTTTTTGATTCAGTGTGACTGGACGATGGCCGGCCAGCAGCAAGGAGTATTTAAGAAGAGCCATGCCATCCAACAGGCCCTCATTGCTGCAGCCAGCATGGGTTATACTGAG___ATTGTCTCCTACCTACTTGATCTTCCAGAAAAAGATGAAGAGGAAGTAGAGCGAGCACAGATCAACAGCTTTGACAGTCTCTGGGGAGAGACAG___CCCTAACAGCTGCAGCCGGAAGGGGCAAACTGGAGGTGTGCCGTTTGCTCTTGGAACAAGGGGCGGCAGTGGCCCAGCCAAACCGCCGAGGAGCAGTGCCACTATTCAGCACAGTGCGCCAGGGCCACTGGCAG___ATTGTTGATCTTTTACTCACCCATGGAGCTGATGTCAACATGGCAGACAAGCAGGGCCGCACTCCCCTGATGATGGCTGCTTCCGAAGGCCATCTAGGAACCGTGGACTTTCTGCTTGCACAAG___GTGCCTCCATTGCTCTTATGGACAAAGAAGGATTGACAGCCCTCAGCTGGGCTTGTTTGAAGGGCCATCTCTCAGTAGTACGTTCTCTGGTGGATAACGGAGCTGCCACAGACCATGCTGACAAGAATGGCCGTACCCCACTGGATCTGGCAGCTTTCTATGGCGATGCTGAGGTG___GTCCAGTTCCTGGTAGATCATGGGGCCATGATCGAGCACGTTGACTACAGTGGAATGCGCCCTTTGGATAGGGCAGTGGGGTGCCGGAACACTTCTGTTGTTGTCACTCTTCTGAAGAAAGGAGCCAAGATAG___GTCCAGCCACATGGGCGATGGCCACCTCCAAGCCAGACATCATGATCATCCTGTTGAGCAAGCTGATGGAAGAGGGGGACATGTTTTATAAG___AAAGGTAAAGTAAAGGAAGCTGCCCAGCGCTACCAGTACGCCCTGAAGAAGTTCCCTAGAGAAGGGTTTGGTGAGGACTTGAAAACTTTCCGGGAACTAAAGGTGTCTCTCCTCCTCAACCTCTCTCGGTGTCGCAGGAAAATGAAC___GATTTTGGAATGGCGGAGGAATTTGCTACTAAGGCCCTGGAGCTGAAACCGAAATCTTATGAAGCTTACTATGCGAGAGCAAGGGCAAAACGCAGCAGCAG___ACAGTTCGCAGCAGCCTTAGAGGACCTGAACGAGGCCATCAAGCTGTGTCCCAACAACCGTGAGATCCAGAGACTTCTGCTGAGAGTGGAAGAAGAGTGTAGACAGATGCAGCAGCCACAGCAGCCACCGCCGCCACCGCAGCCTCAGCAGCAGTTGCCGGAAGAAGCAGAACCTGAGCCACAGCATGAAGACATATACTCTGTACAGGATATATTCGAGGAGGAGTACCTGGAACAGGATGTTGAAAATGTTTCCATTGGCCTCCAGACAGAGGCCCGGCCCAGCCAGGGGCTCCCGGTCATCCAGAGCCCACCCTCCTCTCCCCCGCATCGGGACTCAGCCTACATCTCCAGCTCACCTCTTGGCTCTCATCAGGTTTTTGACTTCCGGTCCAGTAGTTCTGTAGGCTCTCCCACTAGACAGACCTATCAGTCCACCTCACCTGCCCTTTCTCCAACTCATCAGAACTCACATTACAGGCCTAGCCCACCACACACTTCCCCGGCTCATCAGGGAGGATCTTACCGTTTCAGCCCCCCTCCTGTGGGAGGACAGGGCAAAGAATACCCAAGCCCTCCCCCTTCCCCTCTCCGGAGAGGCCCTCAGTATCGGGCCAGCCCTCCAGCTGAAAGTATGAGTGTCTATAGATCCCAGTCTGGTTCACCCGTGCGCTATCAGCAGGAAACAAGCGTCAGTCAGCTTCCTGGCAGACCCAAATCTCCATTATCCAAAATGGCCCAGCGGCCCTACCAGATGCCTCAGCTCCCTGTGGCAGTTCCCCAGCAAGGGCTCAGGCTACAGCCTGCCAAGGCCCAGATTGTGAGAAGTAACCAGCCCAGCCCAGCCGTCCATTCAAGCACCGTCATCCCCACAGGAGCCTATGGCCAAGTAGCCCATTCAATGGCCAGTAAATACCAGTCTTCACAAGGAGACATAGGAGTCAGCCAGAGCCGGTTGGTTTATCAAGGGTCAATTGGGGGAATCGTAGGGGATGGAAGGCCGGTGCAGCATGTCCAAGCCAGCCTGAGTGCAGGCGCCATCTGTCAGCATGGAGGATTGACCAAAGAGGATCTTCCACAGCGACCTTCCTCAGCATACCGAGGTGGCGTGAGATACAGCCAGACACCACAGATCGGACGCAGCCAGTCAGCATCCTATTACCCAGTCTGTCACTCAAAACTAGATCTGGAGCGCTCCTCCAGCCAACTAGGTTCCCCTGATGTGTCGCATTTAATCAGAAGACCTATCAGTGTCAACCCTAACGAAATCAAACCGCACCCGCCAACTCCCAGGCCGTTGCTGCATTCCCAAAGTGTAGGCCTTCGCTTCTCTCCATCTAGCAATAGTATCTCCTCCACCTCCAACCTAACTCCGACCTTCCGGCCATCTTCTTCCATCCAGCAAATGGAGATCCCACTGAAACCTGCATATGAGAGGTCATGTGACGAGCTGTCGCCAGTGTCTCCAACTCAAGGAGGTTACCCCAGTGAGCCCACCCGATCCAGGACCACACCATTCATGGGGATCATAGATAAAACAGCACGGACTCAGCAGTACCCCCACCTCCACCAGCAGAATCGGACCTGGGCAGTGTCATCTGTGGACACCGTCCTCAGTCCCACGTCTCCAGGCAACCTGCCTCAGCCTGAGTCCTTCAGTCCACCATCATCCATCAGCAACATTGCCTTTTATAACAAAACCAACAATGCACAGAATGGCCATTTGCTGGAGGACGATTATTACAGCCCCCATGGGATGCTGGCTAACGGGTCTCGTGGAGACCTCTTGGAGCGAGTCAGCCAGGCCTCCTCCTATCCCGACGTGAAGGTAGCTCGGACTCTACCTGTGGCTCAGGCATACCAGGACAACCTGTACAGGCAGCTGTCCCGAGACTCTCGGCAAGGGCAGACATCCCCTATCAAACCAAAGAGACCGTTCGTGGAGTCTAATGTTTAAAAGACGTTTTGTTGGAGTGAGACCCATATGTTTTCACTGCACATTTTCAGGCTTGGTTTCCACATTCGAGGTAGTTCTCTGGCTTAATTTCTCATGTAGTTTCTGTGTGGTGTTCAGAGGTGGCAGCCCACATGCTGAAATCCTTTGCATGCAGCCGACTGGGAAGCGGCCTCCCGGGAGCCAGGACTTCAGTTTCTCTTGTCTGTGCCCAGCCACATGCTCTCTCCCTCTCTTCAGATGCCAACGAGGAGATTTTCGTGCTGTGTGCTTTAACCCAGGGAGATCAGACACACTGGTCAGCTTTTTCCAGGAGACAATCGCTTTCACTGATGTTCTTGTTGTGTAATTGTCTTTTTCCTTTTTTAAAAAATAAGGTGTTCTTGTTCGTTTTCTTCTAGAAACTTTAGAAAGAGTGCGATGCCCCTTTGCCTTTGCATCCTTAGCCAGTGTCACCCACACAGCCAGCCGCAGCGCATTCTCATGCTGTGGCCCCTCCCCAGACCGCCAGCGCCCTGCAGCCACCAGGTCTGCAGTGTGCATTAGGATTATTGCTGGTCTTCCTAGGGGGTAAAAGGATCAGAGAGAGAAGAATTAAGTGCTAAATTGGAAGAAAACCCCAATATAATTATGTAAAATGTCACTACATTGATTTTCCAAGAGGCATTGTAGGAACATGTCAAAAACAGCCAGCCCTTTAAATATTGCAGTCAGCCAAGGAAATTAGATGAGAATTGTGGCTATTAAGAGAATTCACTGAGAGTTATTCTCTAGATTTTTAGCCGACAATTAACCACTAAAAGCTGCTGCTTTTCCAGGGTGGGGGAGGGAATGAATACATAGAAAAACAAAAAAGATTGTTCTGGATTCTCAGTGAAAGGCTATAGGAAGTCTGTTCTGGAGACATCTACTTTTTAGATCCTGATACATCACTGAGTGTCATACTCCACTAAAAGGAAACTCTAACCGAAGGCTGGCTGGTGTGACAATCCCGTTAGTTGGATCTTCACCTACAGCCAGATTTTGTTCTAGTGGCCCTCTTCCTGTAAACCCAGATGGTGTCATACAGAAATTGTTTCTTTCAGAAGCAGATTGGAATCTCTTGGGACCATGAGACTGAGTCCCAATATTTCCACCCAGGGTCATGCCCGTTGTTGTCTACTTCCATTTTGAGATCTATAGTTTGATTATCTATTATTACAGGAACTGTTTCTTTTCTTTTTCTAGGAGTGTTTATGAGAGTGTGATATTTTAAAGTCAGACGCAGCAAAAACTGTTTCAGGGTGAAGAAAGACCCCTTTCAGCCCTGTTTTGCAGCCCTGGGTGGGGGCATGAGATAGACAGCAAGCTTCTGATCTTGAAGCTTGTCTAGAAGACACATCTTCTAGGTCTCGTGGTCATTTGGTAGGCTGACCTTTGAGTGAGCGAGGCCACTATTGAGTGGATAGCAAGAACATTGGAACCAAAGCCTCGGCACAGGCCTGGCACTGGCTGTACATCAGCTCTTACAACTAAACAACTCAACTAAGCAACTGAAACGAAACAAAGGAGCATTCGTTCTCTGTTGTTAGGAATCATTCTGCTCTGTTAGGGAAGGGCTGCAGGAAGGGCAGTTTCCTGAATAAAAATCTGGCTGCGACCAGTCCCATGTGTCTGGTAAGTAAGTAAGTAAGTAAGTGCCCTTTGAAGGGATCATTAAGACACAGGGAGCATGAACCTGAGATCAGAAGCATTTCTTTACTAATTTAGATTCTGCGAAATAGACGGACCTCTCCACCCCCAAACCTAAAACAGGCCAGGACTTGTCTCTGTGCTGAAAGCAAATAGCAAGACTAACTCAAGCCCCAGCCTCTTTCCACACTCCCTGATACCTAAGGACTGCTTTCTCAGCTAGACCAGGGTGGGCATCAGCGACGCCTTCTCAGCTAGACCAGGGTAGGCATCAGCGTCCTCTCTCCATCTCTATACCCCTCTCTCTCACATCAGGAAGATGAAATGTGTAGCTCTAGCGGCAACCTCTAGCCAGGAGCCCAGTGGCCTCTCAGATTGCTTTTTGGCCAGGTCTCAGCACTGCTGGCATCTTTACATCTTACTCCTTAAAACCGCCTCTCGCTGAGGAGCCACTGCATTTTGAAGAATTTCTCAGTGTCTGTCAGGAAAGTGCTCCTGCTCATTTGGAACGCCACACACCACCCGCACTCACCTGTCCAGGCGAATGAGCAGGTCCTGTAGCTTTACAAATATGCCGCTGATGCCGCTTCTCCCCAGGGTCTCTCAGTTTTCCAGGACAAAAAGATTTAGGGCCTATACCCTATGGGCAAAACACCTAAAATGTCAACAGTCAAAATGCCATTCTTTTTGGCCATCATAAGAGGGAGTAGGTATCACTGCTGCATGCCAGTTGTTTTTGACTAGAATATGCCAACCAGAGCTTGTTGGGGCAGGAGACGTTTTTCCTTACAAGCAGACTGCCTGTGCCCTGTGCCCTGTTTGCTACTTCACTGCCATGGAATGATCCGAGTACTGTATTTCAGAGCTGCCCCTTCCCCAGCAGCAAACACTCGCTGAGTCCATGTCTGGCTTCAGGTGGGAGGAAATGTTTCAGATGAAACTTACTCAATTCATACCACCCTGAAATGGAGGACAGAGGTGACAAACTTCAGTTTAATAGGTTTCTCACCAAGTTGTATGTTCCATTGGCCCAGGATTCTTGCACTAATGGGTTTCTATCACATCATGTCTATAAATGGGTGCACTTTACTGTTTGAATTTGTAACTGAAGTACTGGATATTTAAGTGTGAGTAATGTCTTCATTAGAAAATAGCAGAACCGCTCTTGTCTTTTAGTGTATTTTTCAAGAAAAAAGGAAAGGAAAGACATCAAGCAGTGGATCACAACATTTATAGCACAAGAAATAACTTGTATATAAGCATCAAAAAGATTAAGAATTTTTTAATATGAAAAATATTTGCAGTGATTTTAAAGTGCTTTTCCAGCAATGTTCTTAGGGACTCCTGAGACACGGTTACTTTATCTACTGGATCAGTAAGGCACACAATTAACAATTAACAATTAATGTTTATTTACAAAGTAAAGGGAAAACCTGTGTAACATGAGAATTTGGCATGACAAAATGGAGACCATTTTGTATCTGCTGTTGTATCTTGTCCGGGTTGCAGACGTGCACTATTAAAGTCCCAAGTTAATAGAGCACAAACCCTTCTCGCTCCTCCCCCATGTGCCCCTCTTTTTAGATGTGTATAACTTAAACTCGATGGCTCAGGAAAATTCCACTAATTAGAATCATGTACAGTACCCCAGGTCGTTGTCCAGATATACAAGTTTGCTAATGTAGTTAAGCCTGGATTATTAAACACTTTTCCTAAATTATTGTAAACAGAACAGCTTAGAGAAAGGTATTCTCAGTCCTTAATATTGTATAGTAGTTTATGAGCCCCTCTCTAAATATTGGTATTTTTATATTCCAGAGATGTACCCAATAGAAAAAATTAAAAATTAATCAGTATCTAATTTAATATCCATAAGTATTTTTCCTTAGATTTTAGTCACGTACAGTGGGCTATGTGGATGTCACTTGTGCTTCACCATAGTTTACCACTAGGTGTCACTGTGGCTCTGCACTGCGCTTGTTTTGTAGCAAAGAACAGCGGCATCCCCTCGGGAGAGAGGAGCTGCTTCCAGGGCAACAGGCAAGCGGGCTCAGAGGTTCAGGAGAAGGCAACAGAGGCCTGGAAGGGGTCTTCGTGCATCTGTGCCAGTTGTGCAAGACGAACTCTTTGAACACTACATGCTTTGGACTTCAGCCAGGCAGAGGCTGGAAGAAGGTTGACCAGAGCTCCCTTGCTCTGGTAGAGGGATGGGTACATGGAGAAGCCCCTTCTTCCCCATGAGCCTCCCTCCTGTCAGTTCCTCTCAGCCTCCAGCTTTTATAACTCCAGAAGCGTCACAGTTGGGTGGTTTGATTCAGAGAGAGTTATTTTTCTACTGCAGAAATGCCTTGGACAAAACCAGTGCTCACTGAATCTTTGCCACAAAATGGAATAGGCTATCCCAGGGGGCAAGAGGTGCCCGCCCCTGTGCCCAGCCTCCTCTTGATGCTCCCAGTGCCCAGCAGCCTCGCACACCCTGCCTGTCTGTTCCTGGGCTGCCCATTTCTCAAGAAACCGACCTGCAAAGGCAGCCGGCTGCTGCCTCCACACCGAGGGCTGTGCGGTCCTGCTGCTCGCTCACTGGGAGGTGCAGCTCTTTCTCCTCTTCCTCTAGGAATTCCAGACCGACCATCTACCATGACTAACAACAATGAACAAAGGGCTTAGGGGCAAGAGCTACCTGCAAAGACGTGTCATGGAACCCTTCACCATGCAATGCCTTGAACTCAGCTCTGGCTGCTCCCAAGAAAAGGTGGCTGGCTGGGGGCCTGGACACAAGCACAATGGGGCTGGTGGAGCCACTGTGCAGAGCTACTTGAATAATCACTGGGTTTTCATCAACTCCTTTTGTCATACAGACCACTCAAGGGCTGAAGTGTTGGTAACCTTCATTTCGGTGTCCAAAGCCTCACAGCAGGTGAGCCACCCTGAGATGCTTGTGGCCACATGGTGGCCACAGTCAGAGCTTTGAAAGTCAGTACCAAATGAACGCATAATTGGACACCAAAAATCAAGTGTTACTTTCATGTTTCCTCACCCCATCATCTCATTGCCTCCTGCTGACTCTGATACCGACGCTGAGCTGACTTGCCAGGCTGCCGCTGGACGCGTAGAGATCAGGCCAGCGCCGCGCTCATTTTTCCAGGTAGACCTACTCTGTGGAACGGAAGTGCCCTAGCTGCTTTGTTTTTGTAGCACTTGCTGGCTGAATTTTTCTTTTGCTAATCGCTAACCAGAAAGTCTGGTTAGAGGGGGCTCAACTCAATCCCTTTGGTCCCCAGCGCCAGACAAGAGTTAATTCTGGAAAATTCAGTACTTGAATGTACCTGCCTTATTGCATACCAATTTACTGGGGGGAAAAAAAAAGTTAAGAGATGCCGGCTCCAGATCTCCACTTCATTCACAGGTGATTTTGGAAATCCTGTAAGTTACACTTCCTGTTCTGGTTTTGTTTTGTTTTTTGTTTCCTTTGGCTGATTCCTGCTGAGTGAGGCCAGTTCCTCATCAGGCTCAGGGCAGGTGCCTTTTCAGGCGTGGCCTCCTTTCCATCTAGCACAGCATCTTTGTCTCTGTTCTGTCTCCTCCAAATCCAAGATGATTTTAATTAGTACAGACATGTACAGTCTACAATTAAAGAGTGATTTGTACTAATATGATTTTGATTCTTCCTCCTCTTTGCTGTCCTTTCAAGACACTTGCTGGAAAAAGCTTTAATGCACTTAGTTTTCCTTTAGGTTTTCTATGACTCAGATGTAAAGGACTTTCTCTGTACAGTATATTATCCAATGCATGTTTGTTCTCTCTCCTGATATATTGAACACCACACAGTTGTGAAGCCGTGCAGTGGGGATGCCCCACACCCCACAGAGGCATCTACCCCTGTGTATAAGGAAAGACATTTTCCTTTGCTGTACTTGCTTGAGCAGTTTTATTGTCTGTACATGTGAGCTGTGTGAGATAGATGTGAAAAGTTCAAATGAATGCATTTTCCTGCCCCATGTATACAGATTGTCATCTGTACAAGGAACTGTATGTATGAAAGCAAATGTACTTATTTATAAATGGCTAACACTTGG)$ MTAAPASPQQIRDRLLQAIDPQSN|lh* 11BR010 ENSG00000141979.4 ENSG00000170921.15 -/- +/+ chr19:16627872 chr17:63237814 CDS/splice-site CDS/splice-site translocation 1 1 0 38 40 high out-of-frame . |Ankyrin_repeat(100%),Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%),Tetratricopeptide_repeat(100%) . . ENSG00000141979.4 ENSG00000170921.15 ENST00000409035.1 ENST00000424789.6 upstream upstream mismappers(1) ^(ACTGGAGTTTGGTTCTCGAGGCGGCGGCAGCGAGCGGCGGCGGCTCCGGCGGCTCCTCCTCCTCCTTTGGTGGCGGCGGCGGCCCGGGACCGAGACCCGGCCCCGGCTCCCCTCTCCGCCACCCCGCGCGCCCCCAACCCCCCGGCGCCGCGGGGAACATGCGGCTCCGGCTCCCGGAGGCCGGCGAGTGAGTGACCCCCGTCCCCCGCCTCAGCCCGCCCGCCCGCTGGCCCGGCCG)CAACCCCCCGCCTCGCCCAGGCAATGACAGCGGCTCCGGCGTCTCCGCAGCAGATCAGGGACCGGCTGCTGCAGGCCATCGACCCCCAGAGCAAC|CTACATTAACAAGCTATTCTGAAAATGTGGAACGCACAAAATATGCTGGGGAAAGCAGTAAAGAATTAGGATCTGGAGGAAACATAAAACCTTGGCAaTCTCAAAAATCCAGCATGGACTCCTGTTTGTATCGAGTAGATGAAAACATGACTGCTTCCACCTATAGTCTGAATAAGATCCCAGAGAGAAATTTGGAAACAGTGTTATCTCAATCAGTACAGTCTATTCCTTTGTATCTCATGCC(ACGGCCAAATTCAGTAGCAG___CCACCAGCTCTGCCCACTTGGAAGACCTTGCTTACCTGGATGAGCAGAGACATACACCTTTGAGAACTTCTCTACGAATGCCAAGACAGAGCATGGGTGGTGCTCGCACACAGCAGGATTTAAGAG___TTCGCTTTGCACCTTATAGGCCTCCAGATATCTCCTTGAAGCCTCTGCTCTTTGAAGTGCCCAGCATCACTACAGAGTCAGTGTTTGTTGGCCGAGATTGGGTTTTCCACGAAATAGATGCTCAACTTCAAAGTTCAAATGCCAGCGTGAACCAAGGAGTAGTGATTGTGGGAAACATTGGATTCGGCAAAACTGCCATCATCTCCAGACTGGTGGCCCTCAGCTGCCATGGTACAAGGATGAGACAGATCGCCTCAGACAGCCCACATGCCTCCCCCAAAC___ATGTGGATGCCAACAGAGAGCTGCCACTCACACAGCCACCTTCAGCCCACTCATCTATCACCAGTGGAAGCTGCCCAGGAACTCCGGAAATGCGCAGGCGGCAGGAGGAGGCTATGCGAAGACTAGCCTCGCAG___GTGGTTGCCTATCACTATTGTCAAGCAGATAATGCCTACACTTGCTTGGTGCCAGAATTTGTCCACAATGTTGCTGCCTTGCTCTGCCGCTCACCTCAGCTGACAGCCTATCGGGAGCAGCTTCTTCGGGAACCTCACCTGCAGAGCATGCTGAGCCTTCGTTCCTGTGTTCAAGACCCCATGGCCTCCTTCCGGAGGGGAGTTCTGGAGCCACTAGAAAATCTCCATAAAG___AGAGAAAAATCCCAGATGAAGATTTCATCATTTTAATTGATGGATTAAATGAAGCAGAATTTCACAAACCGGATTATGGGGATACAATTGTATCGTTTCTGAGTAAAATGATCGGAAAGTTTCCTTCTTGGCTCAAACTAATTGTAACAGTTAGGACCAGTTTACAG___GAAATTACCAAGCTGCTGCCTTTCCATAGGATTTTTTTGGATCGACTAGAAGAGAATGAAGCCATAGACCAGGACCTGCAGGCTTACATCCTGCACCGGATACACAGCAGCTCAGAGATCCAGAATAACATTTCACTTAATGGCAAAATGGACAATACTACATTTGGCAAACTCAGTTCTCATCTCAAGACCCTCAGTCAAGGGTCCTATCTATATCTGAAACTTACATTTGACCTCATAGAGAAAGGCTATCTAGTGTTAAAGAGCTCTAGCTACAAAGTAGTTCCTGTTTCGCTCTCAGAGGTTTATTTACTCCAGTGCAATATGAAGTTCCCAACCCAGTCTTCCTTTGACCGGGTGATGCCTCTCCTGAATGTGGCAGTGGCCTCTCTCCACCCACTGACTGATGAGCATATCTTCCAGGCCATCAATGCTGGGAGCATTGAAGGCACACTAGAATGGGAGGATTTTCAGCAGAGAATGGAGAACCTCTCCATGTTCCTAATCAAGCGCAGAGACATGACTCGTATGTTTGTACATCCTTCTTTTCGAGAATGGCTTATCTGGAGAGAAGAAGGAGAGAAAACCAAATTTCTCTGTGATCCGAG___GAGTGGTCACACGTTACTTGCCTTCTGGTTTTCCCGCCAAGAGGGAAAACTAAACCGACAGCAGACTATTGAACTGGGACATCACATCCTCAAAGCACACATTTTTAAG___GGTTTGAGTAAAAAAGTTGGTGTATCATCCTCCATCCTCCAAGGTCTCTGGATCTCTTATAGCACAGAAGGTCTTTCCATGGCACTGGCGTCTTTACGAAATCTCTACACTCCAAATATAAAG___GTCAGCCGACTGCTGATTTTGGGAGGTGCCAATATTAATTACCGGACAGAGGTTTTAAATAATGCTCCAATTCTATGTGTTCAGTCCCATCTTGGTTACACAGAAATGGTAGCCCTGCTGCTGGAGTTCGGGGCCAACGTGGATGCCTCTTCTGAAAGTGGCCTGACTCCCCTGGGATATGCTGCAGCAGCAGGGTACCTGAGCATTGTGGTGCTGCTGTGCAAGAAACGGGCCAAG___GTGGATCATTTGGATAAGAACGGGCAGTGTGCTTTGGTTCATGCTGCACTCCGAGGTCATCTGGAGGTTGTCAAGTTTTTGATTCAGTGTGACTGGACGATGGCCGGCCAGCAGCAAGGAGTATTTAAGAAGAGCCATGCCATCCAACAGGCCCTCATTGCTGCAGCCAGCATGGGTTATACTGAG___ATTGTCTCCTACCTACTTGATCTTCCAGAAAAAGATGAAGAGGAAGTAGAGCGAGCACAGATCAACAGCTTTGACAGTCTCTGGGGAGAGACAG___CCCTAACAGCTGCAGCCGGAAGGGGCAAACTGGAGGTGTGCCGTTTGCTCTTGGAACAAGGGGCGGCAGTGGCCCAGCCAAACCGCCGAGGAGCAGTGCCACTATTCAGCACAGTGCGCCAGGGCCACTGGCAG___ATTGTTGATCTTTTACTCACCCATGGAGCTGATGTCAACATGGCAGACAAGCAGGGCCGCACTCCCCTGATGATGGCTGCTTCCGAAGGCCATCTAGGAACCGTGGACTTTCTGCTTGCACAAG___GTGCCTCCATTGCTCTTATGGACAAAGAAGGATTGACAGCCCTCAGCTGGGCTTGTTTGAAGGGCCATCTCTCAGTAGTACGTTCTCTGGTGGATAACGGAGCTGCCACAGACCATGCTGACAAGAATGGCCGTACCCCACTGGATCTGGCAGCTTTCTATGGCGATGCTGAGGTG___GTCCAGTTCCTGGTAGATCATGGGGCCATGATCGAGCACGTTGACTACAGTGGAATGCGCCCTTTGGATAGGGCAGTGGGGTGCCGGAACACTTCTGTTGTTGTCACTCTTCTGAAGAAAGGAGCCAAGATAG___GTCCAGCCACATGGGCGATGGCCACCTCCAAGCCAGACATCATGATCATCCTGTTGAGCAAGCTGATGGAAGAGGGGGACATGTTTTATAAG___AAAGGTAAAGTAAAGGAAGCTGCCCAGCGCTACCAGTACGCCCTGAAGAAGTTCCCTAGAGAAGGGTTTGGTGAGGACTTGAAAACTTTCCGGGAACTAAAGGTGTCTCTCCTCCTCAACCTCTCTCGGTGTCGCAGGAAAATGAAC___GATTTTGGAATGGCGGAGGAATTTGCTACTAAGGCCCTGGAGCTGAAACCGAAATCTTATGAAGCTTACTATGCGAGAGCAAGGGCAAAACGCAGCAGCAG___ACAGTTCGCAGCAGCCTTAGAGGACCTGAACGAGGCCATCAAGCTGTGTCCCAACAACCGTGAGATCCAGAGACTTCTGCTGAGAGTGGAAGAAGAGTGTAGACAGATGCAGCAGCCACAGCAGCCACCGCCGCCACCGCAGCCTCAGCAGCAGTTGCCGGAAGAAGCAGAACCTGAGCCACAGCATGAAGACATATACTCTGTACAGGATATATTCGAGGAGGAGTACCTGGAACAGGATGTTGAAAATGTTTCCATTGGCCTCCAGACAGAGGCCCGGCCCAGCCAGGGGCTCCCGGTCATCCAGAGCCCACCCTCCTCTCCCCCGCATCGGGACTCAGCCTACATCTCCAGCTCACCTCTTGGCTCTCATCAGGTTTTTGACTTCCGGTCCAGTAGTTCTGTAGGCTCTCCCACTAGACAGACCTATCAGTCCACCTCACCTGCCCTTTCTCCAACTCATCAGAACTCACATTACAGGCCTAGCCCACCACACACTTCCCCGGCTCATCAGGGAGGATCTTACCGTTTCAGCCCCCCTCCTGTGGGAGGACAGGGCAAAGAATACCCAAGCCCTCCCCCTTCCCCTCTCCGGAGAGGCCCTCAGTATCGGGCCAGCCCTCCAGCTGAAAGTATGAGTGTCTATAGATCCCAGTCTGGTTCACCCGTGCGCTATCAGCAGGAAACAAGCGTCAGTCAGCTTCCTGGCAGACCCAAATCTCCATTATCCAAAATGGCCCAGCGGCCCTACCAGATGCCTCAGCTCCCTGTGGCAGTTCCCCAGCAAGGGCTCAGGCTACAGCCTGCCAAGGCCCAGATTGTGAGAAGTAACCAGCCCAGCCCAGCCGTCCATTCAAGCACCGTCATCCCCACAGGAGCCTATGGCCAAGTAGCCCATTCAATGGCCAGTAAATACCAGTCTTCACAAGGAGACATAGGAGTCAGCCAGAGCCGGTTGGTTTATCAAGGGTCAATTGGGGGAATCGTAGGGGATGGAAGGCCGGTGCAGCATGTCCAAGCCAGCCTGAGTGCAGGCGCCATCTGTCAGCATGGAGGATTGACCAAAGAGGATCTTCCACAGCGACCTTCCTCAGCATACCGAGGTGGCGTGAGATACAGCCAGACACCACAGATCGGACGCAGCCAGTCAGCATCCTATTACCCAGTCTGTCACTCAAAACTAGATCTGGAGCGCTCCTCCAGCCAACTAGGTTCCCCTGATGTGTCGCATTTAATCAGAAGACCTATCAGTGTCAACCCTAACGAAATCAAACCGCACCCGCCAACTCCCAGGCCGTTGCTGCATTCCCAAAGTGTAGGCCTTCGCTTCTCTCCATCTAGCAATAGTATCTCCTCCACCTCCAACCTAACTCCGACCTTCCGGCCATCTTCTTCCATCCAGCAAATGGAGATCCCACTGAAACCTGCATATGAGAGGTCATGTGACGAGCTGTCGCCAGTGTCTCCAACTCAAGGAGGTTACCCCAGTGAGCCCACCCGATCCAGGACCACACCATTCATGGGGATCATAGATAAAACAGCACGGACTCAGCAGTACCCCCACCTCCACCAGCAGAATCGGACCTGGGCAGTGTCATCTGTGGACACCGTCCTCAGTCCCACGTCTCCAGGCAACCTGCCTCAGCCTGAGTCCTTCAGTCCACCATCATCCATCAGCAACATTGCCTTTTATAACAAAACCAACAATGCACAGAATGGCCATTTGCTGGAGGACGATTATTACAGCCCCCATGGGATGCTGGCTAACGGGTCTCGTGGAGACCTCTTGGAGCGAGTCAGCCAGGCCTCCTCCTATCCCGACGTGAAGGTAGCTCGGACTCTACCTGTGGCTCAGGCATACCAGGACAACCTGTACAGGCAGCTGTCCCGAGACTCTCGGCAAGGGCAGACATCCCCTATCAAACCAAAGAGACCGTTCGTGGAGTCTAATGTTTAAAAGACGTTTTGTTGGAGTGAGACCCATATGTTTTCACTGCACATTTTCAGGCTTGGTTTCCACATTCGAGGTAGTTCTCTGGCTTAATTTCTCATGTAGTTTCTGTGTGGTGTTCAGAGGTGGCAGCCCACATGCTGAAATCCTTTGCATGCAGCCGACTGGGAAGCGGCCTCCCGGGAGCCAGGACTTCAGTTTCTCTTGTCTGTGCCCAGCCACATGCTCTCTCCCTCTCTTCAGATGCCAACGAGGAGATTTTCGTGCTGTGTGCTTTAACCCAGGGAGATCAGACACACTGGTCAGCTTTTTCCAGGAGACAATCGCTTTCACTGATGTTCTTGTTGTGTAATTGTCTTTTTCCTTTTTTAAAAAATAAGGTGTTCTTGTTCGTTTTCTTCTAGAAACTTTAGAAAGAGTGCGATGCCCCTTTGCCTTTGCATCCTTAGCCAGTGTCACCCACACAGCCAGCCGCAGCGCATTCTCATGCTGTGGCCCCTCCCCAGACCGCCAGCGCCCTGCAGCCACCAGGTCTGCAGTGTGCATTAGGATTATTGCTGGTCTTCCTAGGGGGTAAAAGGATCAGAGAGAGAAGAATTAAGTGCTAAATTGGAAGAAAACCCCAATATAATTATGTAAAATGTCACTACATTGATTTTCCAAGAGGCATTGTAGGAACATGTCAAAAACAGCCAGCCCTTTAAATATTGCAGTCAGCCAAGGAAATTAGATGAGAATTGTGGCTATTAAGAGAATTCACTGAGAGTTATTCTCTAGATTTTTAGCCGACAATTAACCACTAAAAGCTGCTGCTTTTCCAGGGTGGGGGAGGGAATGAATACATAGAAAAACAAAAAAGATTGTTCTGGATTCTCAGTGAAAGGCTATAGGAAGTCTGTTCTGGAGACATCTACTTTTTAGATCCTGATACATCACTGAGTGTCATACTCCACTAAAAGGAAACTCTAACCGAAGGCTGGCTGGTGTGACAATCCCGTTAGTTGGATCTTCACCTACAGCCAGATTTTGTTCTAGTGGCCCTCTTCCTGTAAACCCAGATGGTGTCATACAGAAATTGTTTCTTTCAGAAGCAGATTGGAATCTCTTGGGACCATGAGACTGAGTCCCAATATTTCCACCCAGGGTCATGCCCGTTGTTGTCTACTTCCATTTTGAGATCTATAGTTTGATTATCTATTATTACAGGAACTGTTTCTTTTCTTTTTCTAGGAGTGTTTATGAGAGTGTGATATTTTAAAGTCAGACGCAGCAAAAACTGTTTCAGGGTGAAGAAAGACCCCTTTCAGCCCTGTTTTGCAGCCCTGGGTGGGGGCATGAGATAGACAGCAAGCTTCTGATCTTGAAGCTTGTCTAGAAGACACATCTTCTAGGTCTCGTGGTCATTTGGTAGGCTGACCTTTGAGTGAGCGAGGCCACTATTGAGTGGATAGCAAGAACATTGGAACCAAAGCCTCGGCACAGGCCTGGCACTGGCTGTACATCAGCTCTTACAACTAAACAACTCAACTAAGCAACTGAAACGAAACAAAGGAGCATTCGTTCTCTGTTGTTAGGAATCATTCTGCTCTGTTAGGGAAGGGCTGCAGGAAGGGCAGTTTCCTGAATAAAAATCTGGCTGCGACCAGTCCCATGTGTCTGGTAAGTAAGTAAGTAAGTAAGTGCCCTTTGAAGGGATCATTAAGACACAGGGAGCATGAACCTGAGATCAGAAGCATTTCTTTACTAATTTAGATTCTGCGAAATAGACGGACCTCTCCACCCCCAAACCTAAAACAGGCCAGGACTTGTCTCTGTGCTGAAAGCAAATAGCAAGACTAACTCAAGCCCCAGCCTCTTTCCACACTCCCTGATACCTAAGGACTGCTTTCTCAGCTAGACCAGGGTGGGCATCAGCGACGCCTTCTCAGCTAGACCAGGGTAGGCATCAGCGTCCTCTCTCCATCTCTATACCCCTCTCTCTCACATCAGGAAGATGAAATGTGTAGCTCTAGCGGCAACCTCTAGCCAGGAGCCCAGTGGCCTCTCAGATTGCTTTTTGGCCAGGTCTCAGCACTGCTGGCATCTTTACATCTTACTCCTTAAAACCGCCTCTCGCTGAGGAGCCACTGCATTTTGAAGAATTTCTCAGTGTCTGTCAGGAAAGTGCTCCTGCTCATTTGGAACGCCACACACCACCCGCACTCACCTGTCCAGGCGAATGAGCAGGTCCTGTAGCTTTACAAATATGCCGCTGATGCCGCTTCTCCCCAGGGTCTCTCAGTTTTCCAGGACAAAAAGATTTAGGGCCTATACCCTATGGGCAAAACACCTAAAATGTCAACAGTCAAAATGCCATTCTTTTTGGCCATCATAAGAGGGAGTAGGTATCACTGCTGCATGCCAGTTGTTTTTGACTAGAATATGCCAACCAGAGCTTGTTGGGGCAGGAGACGTTTTTCCTTACAAGCAGACTGCCTGTGCCCTGTGCCCTGTTTGCTACTTCACTGCCATGGAATGATCCGAGTACTGTATTTCAGAGCTGCCCCTTCCCCAGCAGCAAACACTCGCTGAGTCCATGTCTGGCTTCAGGTGGGAGGAAATGTTTCAGATGAAACTTACTCAATTCATACCACCCTGAAATGGAGGACAGAGGTGACAAACTTCAGTTTAATAGGTTTCTCACCAAGTTGTATGTTCCATTGGCCCAGGATTCTTGCACTAATGGGTTTCTATCACATCATGTCTATAAATGGGTGCACTTTACTGTTTGAATTTGTAACTGAAGTACTGGATATTTAAGTGTGAGTAATGTCTTCATTAGAAAATAGCAGAACCGCTCTTGTCTTTTAGTGTATTTTTCAAGAAAAAAGGAAAGGAAAGACATCAAGCAGTGGATCACAACATTTATAGCACAAGAAATAACTTGTATATAAGCATCAAAAAGATTAAGAATTTTTTAATATGAAAAATATTTGCAGTGATTTTAAAGTGCTTTTCCAGCAATGTTCTTAGGGACTCCTGAGACACGGTTACTTTATCTACTGGATCAGTAAGGCACACAATTAACAATTAACAATTAATGTTTATTTACAAAGTAAAGGGAAAACCTGTGTAACATGAGAATTTGGCATGACAAAATGGAGACCATTTTGTATCTGCTGTTGTATCTTGTCCGGGTTGCAGACGTGCACTATTAAAGTCCCAAGTTAATAGAGCACAAACCCTTCTCGCTCCTCCCCCATGTGCCCCTCTTTTTAGATGTGTATAACTTAAACTCGATGGCTCAGGAAAATTCCACTAATTAGAATCATGTACAGTACCCCAGGTCGTTGTCCAGATATACAAGTTTGCTAATGTAGTTAAGCCTGGATTATTAAACACTTTTCCTAAATTATTGTAAACAGAACAGCTTAGAGAAAGGTATTCTCAGTCCTTAATATTGTATAGTAGTTTATGAGCCCCTCTCTAAATATTGGTATTTTTATATTCCAGAGATGTACCCAATAGAAAAAATTAAAAATTAATCAGTATCTAATTTAATATCCATAAGTATTTTTCCTTAGATTTTAGTCACGTACAGTGGGCTATGTGGATGTCACTTGTGCTTCACCATAGTTTACCACTAGGTGTCACTGTGGCTCTGCACTGCGCTTGTTTTGTAGCAAAGAACAGCGGCATCCCCTCGGGAGAGAGGAGCTGCTTCCAGGGCAACAGGCAAGCGGGCTCAGAGGTTCAGGAGAAGGCAACAGAGGCCTGGAAGGGGTCTTCGTGCATCTGTGCCAGTTGTGCAAGACGAACTCTTTGAACACTACATGCTTTGGACTTCAGCCAGGCAGAGGCTGGAAGAAGGTTGACCAGAGCTCCCTTGCTCTGGTAGAGGGATGGGTACATGGAGAAGCCCCTTCTTCCCCATGAGCCTCCCTCCTGTCAGTTCCTCTCAGCCTCCAGCTTTTATAACTCCAGAAGCGTCACAGTTGGGTGGTTTGATTCAGAGAGAGTTATTTTTCTACTGCAGAAATGCCTTGGACAAAACCAGTGCTCACTGAATCTTTGCCACAAAATGGAATAGGCTATCCCAGGGGGCAAGAGGTGCCCGCCCCTGTGCCCAGCCTCCTCTTGATGCTCCCAGTGCCCAGCAGCCTCGCACACCCTGCCTGTCTGTTCCTGGGCTGCCCATTTCTCAAGAAACCGACCTGCAAAGGCAGCCGGCTGCTGCCTCCACACCGAGGGCTGTGCGGTCCTGCTGCTCGCTCACTGGGAGGTGCAGCTCTTTCTCCTCTTCCTCTAGGAATTCCAGACCGACCATCTACCATGACTAACAACAATGAACAAAGGGCTTAGGGGCAAGAGCTACCTGCAAAGACGTGTCATGGAACCCTTCACCATGCAATGCCTTGAACTCAGCTCTGGCTGCTCCCAAGAAAAGGTGGCTGGCTGGGGGCCTGGACACAAGCACAATGGGGCTGGTGGAGCCACTGTGCAGAGCTACTTGAATAATCACTGGGTTTTCATCAACTCCTTTTGTCATACAGACCACTCAAGGGCTGAAGTGTTGGTAACCTTCATTTCGGTGTCCAAAGCCTCACAGCAGGTGAGCCACCCTGAGATGCTTGTGGCCACATGGTGGCCACAGTCAGAGCTTTGAAAGTCAGTACCAAATGAACGCATAATTGGACACCAAAAATCAAGTGTTACTTTCATGTTTCCTCACCCCATCATCTCATTGCCTCCTGCTGACTCTGATACCGACGCTGAGCTGACTTGCCAGGCTGCCGCTGGACGCGTAGAGATCAGGCCAGCGCCGCGCTCATTTTTCCAGGTAGACCTACTCTGTGGAACGGAAGTGCCCTAGCTGCTTTGTTTTTGTAGCACTTGCTGGCTGAATTTTTCTTTTGCTAATCGCTAACCAGAAAGTCTGGTTAGAGGGGGCTCAACTCAATCCCTTTGGTCCCCAGCGCCAGACAAGAGTTAATTCTGGAAAATTCAGTACTTGAATGTACCTGCCTTATTGCATACCAATTTACTGGGGGGAAAAAAAAAGTTAAGAGATGCCGGCTCCAGATCTCCACTTCATTCACAGGTGATTTTGGAAATCCTGTAAGTTACACTTCCTGTTCTGGTTTTGTTTTGTTTTTTGTTTCCTTTGGCTGATTCCTGCTGAGTGAGGCCAGTTCCTCATCAGGCTCAGGGCAGGTGCCTTTTCAGGCGTGGCCTCCTTTCCATCTAGCACAGCATCTTTGTCTCTGTTCTGTCTCCTCCAAATCCAAGATGATTTTAATTAGTACAGACATGTACAGTCTACAATTAAAGAGTGATTTGTACTAATATGATTTTGATTCTTCCTCCTCTTTGCTGTCCTTTCAAGACACTTGCTGGAAAAAGCTTTAATGCACTTAGTTTTCCTTTAGGTTTTCTATGACTCAGATGTAAAGGACTTTCTCTGTACAGTATATTATCCAATGCATGTTTGTTCTCTCTCCTGATATATTGAACACCACACAGTTGTGAAGCCGTGCAGTGGGGATGCCCCACACCCCACAGAGGCATCTACCCCTGTGTATAAGGAAAGACATTTTCCTTTGCTGTACTTGCTTGAGCAGTTTTATTGTCTGTACATGTGAGCTGTGTGAGATAGATGTGAAAAGTTCAAATGAATGCATTTTCCTGCCCCATGTATACAGATTGTCATCTGTACAAGGAACTGTATGTATGAAAGCAAATGTACTTATTTATAAATGGCTAACACTTGG)$ MTAAPASPQQIRDRLLQAIDPQSN|lh* 11BR010 ENSG00000167085.11 ENSG00000214263.2(4775),ENSG00000230040.2(53696) -/- ./+ chr17:49407297 chr13:67272481 intron intergenic translocation 5 14 1 49 30 medium stop-codon . SPFH_domain_/_Band_7_family(100%)| . . ENSG00000167085.11 . ENST00000614445.4 . upstream upstream . ^(GGGCGGGGCAGAGGAGCTCATGCGCAGTATGTGTGGTTGGGGAATTCATGTGGAGGTCAGAGTGGAAGCAG___TTATCTTGGCCCCAGGATGTCATCCAGCTCCTGCTTCCATAAGAAGCATGTCGTTCTTAATACACGATGTTGACAAGCAGTATGGTGAGGAG___GTGTGAGAGGGTCCAGCAGAAGGAAACATGGCTGCCAAAGTGTTTGAGTCCATTGGCAAGTTTGGCCTGGCCTTAGCTGTTGCAGGAGGCGTGGTGAACTCTGCCTTATATAATG___TGGATGCTGGGCACAGAGCTGTCATCTTTGACCGATTCCGTGGAGTGCAGGACATTGTGGTAGGGGAAGGGACTCATTTTCTCATCCCGTGGGTACAGAAACCAATTATCTTTGACTGCCGTTCTCGACCACGTAATGTGCCAGTCATCACTGGTAGCAAAG___ATTTACAGAATGTCAACATCACACTGCGCATCCTCTTCCGGCCTGTCGCCAGCCAGCTTCCTCGCATCTTCACCAGCATCGGAGAGGACTATGATGAGCGTGTGCTGCCGTCCATCACAACTGAGATCCTCAAGTCAGTGGTG___GCTCGCTTTGATGCTGGAGAACTAATCACCCAGAGAGAGCTGGTCTCCAGGCAGGTGA)GCGACGACCTTACAGAGCGAGCCGCCACCTTTGGGCTCATCCTGGATGACGTGTCCTTG___AACCATTCACATTGGGAATACCATGATTTGCGTTCCACCGTCCCTCGTCCTCTTCCTGTTCAGTGGTGGAGCTGCTGTGGGAAGACGCGGACTGGTTAATCCATAAACAGAGAGCATCAGGCTCTTGGATCCCTGGGAACCAGCT|ATTTGAAATAGGTTTCAAATGAAAATAGTTCTACTGAGTTTTACCTTCACAAAACAATGTTATTCTCTTAGATTATGAAAAAATTGAACTTCAAGTTTTCGATAAAAGCCTTTGTGAAAGAAAGAATAAAATAGACCATCCTCTTACACATGCATGTTCCTTGACACATGGTAGGTGCTCAGTAGTTATTTATTGAATAAGCAAAAATTAACTAATGACATTTGGATAACAAAACAACCAACTGGAATTTAAAATAAATGATTGCTTTTATAGATCCCTAAACAAGAATGTGAAATGGC . 11BR010 ENSG00000108375.12 ENSG00000139800.8 -/- -/- chr17:58355810 chr13:99964457 intron 3'UTR translocation 7 2 0 12 14 medium . . Ring_finger_domain(100%)| . . ENSG00000108375.12 ENSG00000139800.8 . ENST00000267294.4 upstream downstream . CCCTATTGTGTGTGTACTTTGAGTGCTGCCAGTACCACACCACTATCTCCCTTTTCTCTCAAACTCAGAACTAGTTTCAGTGCCTCTCTTTTTCTTGCCTTTCACATCTAATCAGTGCCAGATTCTGTTAACTGTATCTTGGCTAGCTTTATCATGTTCTTTTCAAGTCCAGTACTGATGGCCCTGCCAGTGTCTTAGGTATACCCTAAAGATCCATGCAGGAGCCTCCTAGCTCTTCCCTTCCCTCTTACAGGGCCTCGAAGGCTGAGTGCTG|TGTCCAAACTTCTTGTGTAATAAAGAGATTCTGTTTTCGATCCTAAGTTCTTTGGGATGCCAACATTCACAGTCAAGTCTTGAGGAGGTGTGATGATGGCATCATGCCTATTTTTTTGGAAAGCTGTTGTTTTTAAAACAGGCCAACACCTCTTTTATACTGTTGTATCAG(CCTTTTAAAAAGTCTATTTTTCAATGCCTGAAACTGCATTTTAATGCATTTTCTTCCACCTGAGCACTGAGCACACCAAACTGGAATCCATTTGAAAATGACAGTGTGTGAAGTGTATGATTTACATTAAAAGAGGGGAGGGAGTTGCCATACATATTAAAAATTTTTAAAAGGTTTATAGTTACCACCAAACACTGATGAATGTGTGACCTTTGCCAGAGCTGTCAAGCTAGGATAAAAAAGGTCAAGGACCTAGGACAATAACTCTTAGTCGATTTATTTTCGGTTGGTACAACACATCTCCTGTGCAAAATGTAGTCCATCAGAAACATCCTACAGATACACTAAAGAGCACTAATTTATCCTTAGAGACCCCGAAGACACCCCCTCCCCAGGGTTTGTAGAAATTTGTTTTGTGTGCTGTGAGTGGTTGATGTAGTCTTGTCATTGTTAATAACTTGTATGTGAACACTATTATTTGTACAGTTGAATTAATTTATTTTCAGACATCATCCTTTTTTTTTTTCTTTCCTGGAAGAGTTCAAAGCACACCAAAGAATTATATTATACATTTTGGTGAAAGATTGTCATTTATGATCCATGGTTTATTTAAAAAAAAAAGGAAAGAAAATGGAAAAATATATTTTTAAGCTTACTTGAATGAACAACGTAATGTGAAAACCAAGACTCTTCCTGCATGTCTTTTTTGCATTGTGTTGATAAGATTATATATAGTTTATAGATATATTATATTACTAGTACAGTGCATGGTGCTGTCACTTGGAAAGCCTTTCAATGTTGTCTTCAGATTGTTGTGATGAATATGAAACATGCAGACCCTCCTTTATAAAGAAAAAGACCTTAAAACTTGAATATGAGATAATTTTACATTTTAAAAGTTTATTTGATTTTCATATTATTCACTTTCAAAGCCCTTTCAAATAGAAAAGGTATGAACTTTTGGGGGGATAATTTATGTATCGTAAACTTATTAGAACAAAATATTCCTGATGTATAATGAGTTGTTTTATTTATACAACTTTTTCAATGGTAGTTTGCACTATTCTTTATTATGCTACAGGTTTATTTATTATGAAACAAAGGAATATGTATTTTATGTATTTTACCATGCATAGGTTAACTCTTTGCCACAGATTTATTGGTTCTTGATACACCTAAAATAAAAAAAAATGTGTACCTCCAATAGAGAGCAAGCAAGAATGATTATGAAGTAACAAATTTAATAAAGGTATTCTTGTTATTATTGCTTATGTTTTACATAATGGCATATCTCTCATACAAATAGAACAGGTTGCTAATGGA)$ . 11BR010 ENSG00000285897.1 ENSG00000139800.8 -/- -/- chr17:58355810 chr13:99964457 intron 3'UTR translocation 7 2 0 12 14 medium . . . . . ENSG00000285897.1 ENSG00000139800.8 . ENST00000267294.4 upstream downstream . CCCTATTGTGTGTGTACTTTGAGTGCTGCCAGTACCACACCACTATCTCCCTTTTCTCTCAAACTCAGAACTAGTTTCAGTGCCTCTCTTTTTCTTGCCTTTCACATCTAATCAGTGCCAGATTCTGTTAACTGTATCTTGGCTAGCTTTATCATGTTCTTTTCAAGTCCAGTACTGATGGCCCTGCCAGTGTCTTAGGTATACCCTAAAGATCCATGCAGGAGCCTCCTAGCTCTTCCCTTCCCTCTTACAGGGCCTCGAAGGCTGAGTGCTG|TGTCCAAACTTCTTGTGTAATAAAGAGATTCTGTTTTCGATCCTAAGTTCTTTGGGATGCCAACATTCACAGTCAAGTCTTGAGGAGGTGTGATGATGGCATCATGCCTATTTTTTTGGAAAGCTGTTGTTTTTAAAACAGGCCAACACCTCTTTTATACTGTTGTATCAG(CCTTTTAAAAAGTCTATTTTTCAATGCCTGAAACTGCATTTTAATGCATTTTCTTCCACCTGAGCACTGAGCACACCAAACTGGAATCCATTTGAAAATGACAGTGTGTGAAGTGTATGATTTACATTAAAAGAGGGGAGGGAGTTGCCATACATATTAAAAATTTTTAAAAGGTTTATAGTTACCACCAAACACTGATGAATGTGTGACCTTTGCCAGAGCTGTCAAGCTAGGATAAAAAAGGTCAAGGACCTAGGACAATAACTCTTAGTCGATTTATTTTCGGTTGGTACAACACATCTCCTGTGCAAAATGTAGTCCATCAGAAACATCCTACAGATACACTAAAGAGCACTAATTTATCCTTAGAGACCCCGAAGACACCCCCTCCCCAGGGTTTGTAGAAATTTGTTTTGTGTGCTGTGAGTGGTTGATGTAGTCTTGTCATTGTTAATAACTTGTATGTGAACACTATTATTTGTACAGTTGAATTAATTTATTTTCAGACATCATCCTTTTTTTTTTTCTTTCCTGGAAGAGTTCAAAGCACACCAAAGAATTATATTATACATTTTGGTGAAAGATTGTCATTTATGATCCATGGTTTATTTAAAAAAAAAAGGAAAGAAAATGGAAAAATATATTTTTAAGCTTACTTGAATGAACAACGTAATGTGAAAACCAAGACTCTTCCTGCATGTCTTTTTTGCATTGTGTTGATAAGATTATATATAGTTTATAGATATATTATATTACTAGTACAGTGCATGGTGCTGTCACTTGGAAAGCCTTTCAATGTTGTCTTCAGATTGTTGTGATGAATATGAAACATGCAGACCCTCCTTTATAAAGAAAAAGACCTTAAAACTTGAATATGAGATAATTTTACATTTTAAAAGTTTATTTGATTTTCATATTATTCACTTTCAAAGCCCTTTCAAATAGAAAAGGTATGAACTTTTGGGGGGATAATTTATGTATCGTAAACTTATTAGAACAAAATATTCCTGATGTATAATGAGTTGTTTTATTTATACAACTTTTTCAATGGTAGTTTGCACTATTCTTTATTATGCTACAGGTTTATTTATTATGAAACAAAGGAATATGTATTTTATGTATTTTACCATGCATAGGTTAACTCTTTGCCACAGATTTATTGGTTCTTGATACACCTAAAATAAAAAAAAATGTGTACCTCCAATAGAGAGCAAGCAAGAATGATTATGAAGTAACAAATTTAATAAAGGTATTCTTGTTATTATTGCTTATGTTTTACATAATGGCATATCTCTCATACAAATAGAACAGGTTGCTAATGGA)$ . 11BR010 ENSG00000221983.8 ENSG00000167258.15(9705),ENSG00000222777.1(1855) +/+ ./+ chr19:18573403 chr17:39544249 CDS/splice-site intergenic translocation 1 7 0 32738 34 medium out-of-frame . Ubiquitin_family(100%)| . . ENSG00000221983.8 . ENST00000442744.7 . downstream upstream . ^(CTTCTTTTTCTTCAGCGAGGCGGCCGAGCTGGTTGG)TGGCGGCGGTCGTGCGG___ACGCAAACATGCAGATCTTTGTGAAGACCCTCACTGGCAAAACCATCACCCTTGAGGTCGAGCCCAGTGACACCATTGAGAATGTCAAAGCCAAAATTCAAGACAAGGAGG|GTAGGAGCAACGGTGGGAATGCCCTCTGAGGAATGCAGTGATGTCCATCAGTCACCTCTCACCCAGAGCCTGGCAAATTCAGTCTCTTTCACAGAACCTAAAGCCAAGCCAG___GTTCAGTGGGAAATCCCACCTGTCCAAACACTGTGTGAGACACCAGAATTAGAGGCCTGCAAGCCTGCTTCCTTCATCCCCAATGCCCAGATGGGACAGGgCACCAGCCTCCTGTGTCTACC MQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKE|grsnggnal* 11BR010 ENSG00000108375.12 ENSG00000230040.2(43410),ENSG00000287876.1(154220) -/- ./- chr17:58357468 chr13:67423404 CDS/splice-site intergenic translocation 5 0 0 53 2 medium out-of-frame . Ring_finger_domain(100%)| . . ENSG00000108375.12 . ENST00000407977.6 . upstream downstream . ^(ATATGCTGTTTGGAGAAAAAAAGAACTTTTGTTAGCAAGGAGGTTTCAGAAATGATTTTGGATTTTCTGTAAGTGTTTAATTTAGTTCTAGGGGACAGCATCTCTCATCCCGGAGTAAATTTCTGCCTTTGACCTGCATGGATTATTTTTTCAGGCTGCGGAATTTCTCGGCACCTACCTGTAGTATGGGGCACTTGGTTTGGTTGCAGAGTAAGAAGGTGGAAGAATGAGCTGTACTTGGTTAAGCAGTTGAAACCTTTTTTGAGCAGGATCTGTAAAAGCATAATTGAATTTGTTTCACCCCCGTGGATTCCAGTGGGCCCGACAGCGCAACAG___TGCCTGGCAACTTGATGCATATGGAAGAGCAATGCCAAGTGATCTGACATAATACAAATTCACGAAGTGACATTCAATCACAAGCAAAGTTGGAAATTCCAAAGAGAAGTGGTGAGATCTTTACTAGTCACAGTGAAGATGGGAGAAAATGACATACCTGCAGCAGATGTGGGCTGAAAATATCCTCTTCTCTGCCCAATCAGGAATGCTACCTGTTTTTGGGAATAAACTTTAGAGAAAGGAAGGGCCAAAACTACGACTTGGCTTTCTGAAACGGAAGCATAAATGTTCTTTTCCTCCATTTGTCTGGATCTGAGAACCTGCATTTGGTATTAGCTAGTGGAAGCAGTATGTATGGTTGAAGTGCATTGCTGCAGCTGGTAGCATGAGTGGTGGCCACCAGCTGCAGCTGGCTGCCCTCTGGCCCTGGCTGCTGATGGCTACCCTGCAGGCAGGCTTTGGACGCACAGGACTGGTACTGGCAGCAGCGGTGGAGTCTGAAAGATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTGAAAATGGACCCCACAGGAAAACTGAATCTCACTTTGGAAGGTGTGTTTGCTGGTGTTGCTGAAATAACTCCAGCAGAAGGAAAATTAATGCAG___TCCCACCCGCTGTACCTGTGCAATGCCAGTGATGACGACAATCTGGAGCCTGGATTCATCAGCATCGTCAAGCTGGAGAGTCCTCGACGGGCCCCCCGCCCCTGCCTGTCACTGGCTAGCAAG___GCTCGGATGGCGGGTGAGCGAGGAGCCAGTGCTGTCCTCTTTGACATCACTGAGGATCGAGCTGCTGCTGAGCAG___CTGCAGCAGCCGCTGGGGCTGACCTGGCCAGTGGTGTTGATCTGGGGTAATGACGCTGAGAAGCTGATGGAGTTTGTGTACAAGAACCAAAAGGCCCATGTGAGGATTGAGCTGAAGGAGCCCCCGGCCTGG___CCAGATTATGATGTGTGGATCCTAATGACAGTGGTGGGCACCATCTTTGTGATCATCCTGGCTTCGGTGCTGCGCATCCGGTGCCGCCCCCGCCACAGCAGGCCG___GATCCGCTTCAGCAGAGAACAGCCTGGGCCATCAGCCAGCTGGCCACCAGGAGGTACCAGGCCAGCTGCAGGCAGGCCCGGGGTGAGTGGCCAGACTCAGGGAGCAGCTGCAGCTCAGCCCCTGTGTGTGCCATCTGTCTGGAGGAGTTCTCTGAGGGGCAG___GAGCTACGGGTCATTTCCTGCCTCCATGAGTTCCATCGTAACTGTGTGGACCCCTGGTTACATCAGCATCGGACTTGCCCCCTCTGCATGTTCAACATCACAG___AGGGAGATTCATTTTCCCAGTCCCTGGGACCCTCTCGATCTTACCAAGAACCAGGTCGAAGACTCCACCTCATTCGCCAGCATCCCGGCCATGCCCACTACCACCTCCCTGCTGCCTACCTGTTGGGCCCTTCCCGGAGTGCAGTGGCTCGGCCCCCACGACCTGGTCCCTTCCTGCCATCCCAGGAGCCAGGCATGGGCCCTCGGCATCACCGCTTCCCCAGAGCTGCACATCCCCGGGCTCCAGGAGAGCAGCAGCGCCTGGCAGGAGCCCAGCACCCCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACCTCACAGCACCCTGCTGCTTGCCCAGTGCCCCTACGCCGGGCCAGGCCCCCTGACAGCAGTGGATCTGGAGAAAGCTATTGCACAGAACGCAGTGGGTACCTGGCAGATGGGCCAGCCAGTGACTCCAGCTCAGGGCCCTGTCATGGCTCTTCCAGTGACTCTGTGGTCAACTGCACGGACATCAGCCTACAGGGGGTCCATGGCAGCAGTTCTACTTTCTGCAGCTCCCTAAGCAGTGACTTTGACCCCCTAGTGTACTGCAGCCCTAAAGGGGATCCCCAGCGAGTGGACATGCAGCCTAGTGTGACCTCTCGGCCTCGTTCCTTGGACTCGGTGGTGCCCACAGGGGAAACCCAGGTTTCCAGCCATGTCCACTACCACCGCCACCGGCACCACCACTACAAAAAGCGGTTCCAGTGGCATGGCAGGAAGCCTGGCCCAGAAACCGGAGTCCCCCAGTCCAGGCCTCCTATTCCTCGGACACAGCCCCAGCCAGAGCCACCTTCTCCTGATCAGCAAGTCACCAGATCCAACTCAGCAGCCCCTTCGGGGCGGCTCTCTAACCCACAGTGCCCCAGGGCCCTCCCTGAGCCAGCCCCTGGCCCAGTTGACGCCTCCAGCATCTGCCCCAGTACCAGCAGTCTGTTCAACTTGCAAAAATCCAGCCTCTCTGCCCGACACCCACAGAGGAAAAGGCGGGGGGGTCCCTCCGAGCCCACCCCTGGCTCTCGGCCCCAGGATGCAACTGTGCACCCAGCTTGCCAGATTTTTCCCCATTACACCCCCAGTGTGGCATATCCTTGGTCCCCAGAGGCACACCCCTTGATCTGTGGACCTCCAGGCCTGGACAAGA)GGCTGCTACCAGAAACCCCAGGCCCCTGTTACTCAAATTCACAGCCAGTGTGGTTGTGCCTGACTCCTCGCCAGCCCCTGGAACCACATCCACCTGGGGAGGGGCCTTCTGAATGGAGTTCTGACACCGCAGAGGGCAGGCCATGCCCTTATCCGCACTGCCAGGTGCTGTCGGCCCAGCCTG|ATATTTTCATAGCCGGAACAAAGAGGATTTCTATAGATCAGGC MSGGHQLQLAALWPWLLMATLQAGFGRTGLVLAAAVESERSAEQKAIIRVIPLKMDPTGKLNLTLEGVFAGVAEITPAEGKLMQSHPLYLCNASDDDNLEPGFISIVKLESPRRAPRPCLSLASKARMAGERGASAVLFDITEDRAAAEQLQQPLGLTWPVVLIWGNDAEKLMEFVYKNQKAHVRIELKEPPAWPDYDVWILMTVVGTIFVIILASVLRIRCRPRHSRPDPLQQRTAWAISQLATRRYQASCRQARGEWPDSGSSCSSAPVCAICLEEFSEGQELRVISCLHEFHRNCVDPWLHQHRTCPLCMFNITEGDSFSQSLGPSRSYQEPGRRLHLIRQHPGHAHYHLPAAYLLGPSRSAVARPPRPGPFLPSQEPGMGPRHHRFPRAAHPRAPGEQQRLAGAQHPYAQGWGLSHLQSTSQHPAACPVPLRRARPPDSSGSGESYCTERSGYLADGPASDSSSGPCHGSSSDSVVNCTDISLQGVHGSSSTFCSSLSSDFDPLVYCSPKGDPQRVDMQPSVTSRPRSLDSVVPTGETQVSSHVHYHRHRHHHYKKRFQWHGRKPGPETGVPQSRPPIPRTQPQPEPPSPDQQVTRSNSAAPSGRLSNPQCPRALPEPAPGPVDASSICPSTSSLFNLQKSSLSARHPQRKRRGGPSEPTPGSRPQDATVHPACQIFPHYTPSVAYPWSPEAHPLICGPPGLDKRLLPETPGPCYSNSQPVWLCLTPRQPLEPHPPGEGPSEWSSDTAEGRPCPYPHCQVLSAQP|difiagtkrisidq 11BR010 ENSG00000285897.1 ENSG00000230040.2(43410),ENSG00000287876.1(154220) -/- ./- chr17:58357468 chr13:67423404 CDS/splice-site intergenic translocation 5 0 0 53 2 medium out-of-frame . . . . ENSG00000285897.1 . ENST00000648873.1 . upstream downstream . ^(AGTCCCAGGGGAGGGAGTCAGAGCTAGAACACCAATTACAAACCACAGGCTTCCTGCTCTAGGGAGTTGATCCAGAATTGTCTTTCTGAAAGGAAGCACTCGGAATCCTTCCGAACTTTCCAAGTCCATCCATGATTCAGAGATACTGCCTTCTCTCTCTCTGGGATTTTATGTGTTTCTGATAGTGAATTGTTGATGTATTTGCTACTTTGCTTCTTTTCTCTTTCAAGACTTGATCATTTTATATGCTGTTTGGAGAAAAAAAGAACTTTTGTTAGCAAGGAGGTTTCAGAAATGATTTTGGATTTTCTGTAAGTGTTTAATTTAGTTCTAGGGGACAGCATCTCTCATCCCGGAGTAAATTTCTGCCTTTGACCTGCATGGATTATTTTTTCAGGCTGCGGAATTTCTCGGCACCTACCTGTAGTATGGGGCACTTGGTTTGGTTGCAGAGTAAGAAGGTGGAAGAATGAGCTGTACTTGGTTAAGCAGTTGAAACCTTTTTTGAGCAGGATCTGTAAAAGCATAATTGAATTTGTTTCACCCCCGTGGATTCCAGTGGGCCCGACAGCGCAACAGGTTTGCAGATTTCTTTTGAAATTCCTTTTTCCCCCCTCCCTCTGCCTCAGCAAAAGAAAAGAATCCATATAACAGGTTCATGTTCAATTGCTTGGCTTTTCAGCACTTATTCTGAAGACTTTATAATATTTTTAAACTTGACCTTGGAACACAGAGGGCTTTGTGGGTGAGGTGTATTTATATTTACTTAAGGGTGCACATTTTAAAAATCTTATTCTGTGTTTGTACAAAGACGCAAATTTTCATAGTGCCTAGAAATAGCACAGATCTATTCTACTCAAGATTATTTGTATTTTTTCAGGGTATTCTACCTAGAGCCTGTGGTTAATCGCCTCCCTGCTCCCCCTACCTTTTATTCCCTACCCCCTCAGGGAATTTGGATACATGTGAGGAATAGTCCTTTGTTTTTCTTATGAACCTAGAAAATTACAGATCATAAAATCTGGATATTAAAGTAGTTTCCAAAAGCATCTCATGGGAAATCAAAGTGCTCGGCATTTCCGAGCTGGAGAATAAAATCAAGAATCCTTAAGAGAGAAAAGAAAATGGAGATGGAAATATGAATTTTAACTGGGAAAAATAATTGGAAAGCTAACCTTTTCAAATACTCTAATTATGAAAGTTGGAAAAGGTTGTGATGCTCAGGATTATCCTGTAATGTGTGAAGATACATAAATTAGCACCTAATTTATAGGCAAATTTTGGTAAAACACAAAAAATTATGGTATGTCTAAGTTCATGAAAAGTATGTAAATGCAGTGGGCCTAGAAACCTGGCCACACTGAAATACAGTTTAATGTGGAAACTTTTCTAAATACATATTGTAGCATCTTTGGACATCAACGTGTGGCCTGAAATTTTTATTATTGTTCCCTCTTCTCCTCCATTAAAAAAAAAATCTCCTTGTGGTATTTAGTCATTTACCATTAACACATATTATGGCTTAAAAAGGGCCATCCCTTCCTTTTCTGAGCTGGAGTTCTTCACGCTCACCTTTGATGCATGGCCTTAGCTGTTTACTTTGCCTTGTTTTGTTCATGAACATTGGGTTTAGTGCCTGGCAACTTGATGCATATGGAAGAGCAATGCCAAGTGATCTGACATAATACAAATTCACGAAGTGACATTCAATCACAAGCAAAGTTGGAAATTCCAAAGAGAAGTGGTGAGATCTTTACTAGTCACAGTGAAGATGGGAGAAAATGACATACCTGCAGCAGATGTGGGCTGAAAATATCCTCTTCTCTGCCCAATCAGGAATGCTACCTGTTTTTGGGAATAAACTTTAGAGAAAGGAAGGGCCAAAACTACGACTTGGCTTTCTGAAACGGAAGCATAAATGTTCTTTTCCTCCATTTGTCTGGATCTGAGAACCTGCATTTGGTATTAGCTAGTGGAAGCAGTATGTATGGTTGAAGTGCATTGCTGCAGCTGGTAGCATGAGTGGTGGCCACCAGCTGCAGCTGGCTGCCCTCTGGCCCTGGCTGCTGATGGCTACCCTGCAGGCAGGCTTTGGACGCACAGGACTGGTACTGGCAGCAGCGGTGGAGTCTGAAAGATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTGAAAATGGACCCCACAGGAAAACTGAATCTCACTTTGGAAGGTGTGTTTGCTGGTGTTGCTGAAATAACTCCAGCAGAAGGAAAATTAATGCAG___TCCCACCCGCTGTACCTGTGCAATGCCAGTGATGACGACAATCTGGAGCCTGGATTCATCAGCATCGTCAAGCTGGAGAGTCCTCGACGGGCCCCCCGCCCCTGCCTGTCACTGGCTAGCAAG___GCTCGGATGGCGGGTGAGCGAGGAGCCAGTGCTGTCCTCTTTGACATCACTGAGGATCGAGCTGCTGCTGAGCAG___CTGCAGCAGCCGCTGGGGCTGACCTGGCCAGTGGTGTTGATCTGGGGTAATGACGCTGAGAAGCTGATGGAGTTTGTGTACAAGAACCAAAAGGCCCATGTGAGGATTGAGCTGAAGGAGCCCCCGGCCTGG___CCAGATTATGATGTGTGGATCCTAATGACAGTGGTGGGCACCATCTTTGTGATCATCCTGGCTTCGGTGCTGCGCATCCGGTGCCGCCCCCGCCACAGCAGGCCG___GATCCGCTTCAGCAGAGAACAGCCTGGGCCATCAGCCAGCTGGCCACCAGGAGGTACCAGGCCAGCTGCAGGCAGGCCCGGGGTGAGTGGCCAGACTCAGGGAGCAGCTGCAGCTCAGCCCCTGTGTGTGCCATCTGTCTGGAGGAGTTCTCTGAGGGGCAG___GAGCTACGGGTCATTTCCTGCCTCCATGAGTTCCATCGTAACTGTGTGGACCCCTGGTTACATCAGCATCGGACTTGCCCCCTCTGCATGTTCAACATCACAG___AGGGAGATTCATTTTCCCAGTCCCTGGGACCCTCTCGATCTTACCAAGAACCAGGTCGAAGACTCCACCTCATTCGCCAGCATCCCGGCCATGCCCACTACCACCTCCCTGCTGCCTACCTGTTGGGCCCTTCCCGGAGTGCAGTGGCTCGGCCCCCACGACCTGGTCCCTTCCTGCCATCCCAGGAGCCAGGCATGGGCCCTCGGCATCACCGCTTCCCCAGAGCTGCACATCCCCGGGCTCCAGGAGAGCAGCAGCGCCTGGCAGGAGCCCAGCACCCCTATGCACAAGGCTGGGGACTGAGCCACCTCCAATCCACCTCACAGCACCCTGCTGCTTGCCCAGTGCCCCTACGCCGGGCCAGGCCCCCTGACAGCAGTGGATCTGGAGAAAGCTATTGCACAGAACGCAGTGGGTACCTGGCAGATGGGCCAGCCAGTGACTCCAGCTCAGGGCCCTGTCATGGCTCTTCCAGTGACTCTGTGGTCAACTGCACGGACATCAGCCTACAGGGGGTCCATGGCAGCAGTTCTACTTTCTGCAGCTCCCTAAGCAGTGACTTTGACCCCCTAGTGTACTGCAGCCCTAAAGGGGATCCCCAGCGAGTGGACATGCAGCCTAGTGTGACCTCTCGGCCTCGTTCCTTGGACTCGGTGGTGCCCACAGGGGAAACCCAGGTTTCCAGCCATGTCCACTACCACCGCCACCGGCACCACCACTACAAAAAGCGGTTCCAGTGGCATGGCAGGAAGCCTGGCCCAGAAACCGGAGTCCCCCAGTCCAGGCCTCCTATTCCTCGGACACAGCCCCAGCCAGAGCCACCTTCTCCTGATCAGCAAGTCACCAGATCCAACTCAGCAGCCCCTTCGGGGCGGCTCTCTAACCCACAGTGCCCCAGGGCCCTCCCTGAGCCAGCCCCTGGCCCAGTTGACGCCTCCAGCATCTGCCCCAGTACCAGCAGTCTGTTCAACTTGCAAAAATCCAGCCTCTCTGCCCGACACCCACAGAGGAAAAGGCGGGGGGGTCCCTCCGAGCCCACCCCTGGCTCTCGGCCCCAGGATGCAACTGTGCACCCAGCTTGCCAGATTTTTCCCCATTACACCCCCAGTGTGGCATATCCTTGGTCCCCAGAGGCACACCCCTTGATCTGTGGACCTCCAGGCCTGGACAAGA)GGCTGCTACCAGAAACCCCAGGCCCCTGTTACTCAAATTCACAGCCAGTGTGGTTGTGCCTGACTCCTCGCCAGCCCCTGGAACCACATCCACCTGGGGAGGGGCCTTCTGAATGGAGTTCTGACACCGCAGAGGGCAGGCCATGCCCTTATCCGCACTGCCAGGTGCTGTCGGCCCAGCCTG|ATATTTTCATAGCCGGAACAAAGAGGATTTCTATAGATCAGGC MSGGHQLQLAALWPWLLMATLQAGFGRTGLVLAAAVESERSAEQKAIIRVIPLKMDPTGKLNLTLEGVFAGVAEITPAEGKLMQSHPLYLCNASDDDNLEPGFISIVKLESPRRAPRPCLSLASKARMAGERGASAVLFDITEDRAAAEQLQQPLGLTWPVVLIWGNDAEKLMEFVYKNQKAHVRIELKEPPAWPDYDVWILMTVVGTIFVIILASVLRIRCRPRHSRPDPLQQRTAWAISQLATRRYQASCRQARGEWPDSGSSCSSAPVCAICLEEFSEGQELRVISCLHEFHRNCVDPWLHQHRTCPLCMFNITEGDSFSQSLGPSRSYQEPGRRLHLIRQHPGHAHYHLPAAYLLGPSRSAVARPPRPGPFLPSQEPGMGPRHHRFPRAAHPRAPGEQQRLAGAQHPYAQGWGLSHLQSTSQHPAACPVPLRRARPPDSSGSGESYCTERSGYLADGPASDSSSGPCHGSSSDSVVNCTDISLQGVHGSSSTFCSSLSSDFDPLVYCSPKGDPQRVDMQPSVTSRPRSLDSVVPTGETQVSSHVHYHRHRHHHYKKRFQWHGRKPGPETGVPQSRPPIPRTQPQPEPPSPDQQVTRSNSAAPSGRLSNPQCPRALPEPAPGPVDASSICPSTSSLFNLQKSSLSARHPQRKRRGGPSEPTPGSRPQDATVHPACQIFPHYTPSVAYPWSPEAHPLICGPPGLDKRLLPETPGPCYSNSQPVWLCLTPRQPLEPHPPGEGPSEWSSDTAEGRPCPYPHCQVLSAQP|difiagtkrisidq 11BR010 ENSG00000198909.8 ENSG00000236565.3(62474),ENSG00000234767.2(14832) +/+ ./- chr17:63657907 chr13:65851238 CDS/splice-site intergenic translocation 0 5 0 48 7 medium out-of-frame . PB1_domain(100%)| . . ENSG00000198909.8 . ENST00000361733.8 . downstream downstream . ^(GTTTTTCGGAGCGTTCCTGAGGTGGAGAACGGTGGCCGGACGGAGAGACTGCGGGTCTGAGGGACTGGCGGGCGGGCGGGCCGAGCGGCGCCGCCGAGGCCGGGCTGGGCCGAGCCCAGGAGCGCCCGGGATGTAGCGGGCCACCCTGCCGATGCCACAGCGCCCGGCCGCGGGCGGAGCCGGAGCCGGAGCCTGGGGAGGCGGCGGGGGCCCAGAGCGCAGCCCGCGCCCCCCGCGCGGAGCCAGGCCCGCTGCCGTCCCCGCCGCCCGGGCCCCCGGCATGCAGCCCCGGCTGCGGAGGTGACACTCACGGACCTTAGCCACCGCCGCCGCCATCGCCACCATGG___ACGAACAGGAGGCATTGAACTCAATCATGAACGATCTGGTGGCCCTCCAGATGAACCGACGTCACCGGATGCCTGGATATGAGACCATGAAGAACAAAGACACAGGTCACTCAAATAGGCAG___AGTGACGTCAGAATCAAGTTCGAGCACAACGGGGAGAGGCG___AATTATAGCGTTCAGCCGGCCTGTGAAATATGAAGATGTGGAGCACAAGGTGACAACAGTATTTGGACAACCTCTTGATCTACATTACATGAACAATGAG___CTCTCCATCCTGCTGAAAAACCAAGATGATCTTGATAAAGCAATTGACATTTTAG)ATAGAAGCTCAAGCATGAAAAGCCTTAGGATATTGCTGTTGTCCCAGGACAGAAACCAT|ACTATGGAAACGATGTTAGACAAAAAGCAAATTtAAGTGATTTTCTTATTCGAGTTCAAAATAGGACATAAGGTAGTGGAGACAACTTGCAATGTCCGCAATGCTTTTGGCCCAGGAACTGCTAATGAACATATAATGCAGTGGTGGTTCAAGGAGTTTTGCAAAGGAGACGAGAACCTTGAAGATGAGGAGTGTAGTGG MDEQEALNSIMNDLVALQMNRRHRMPGYETMKNKDTGHSNRQSDVRIKFEHNGERRIIAFSRPVKYEDVEHKVTTVFGQPLDLHYMNNELSILLKNQDDLDKAIDILDRSSSMKSLRILLLSQDRNH|tmetmldkkqi* 11BR010 ENSG00000204683.12 ENSG00000231326.7 -/- -/- chr10:21146094 chr10:2187375 intron intron deletion 4 0 1 5 8 medium . . . . . ENSG00000204683.12 ENSG00000231326.7 ENST00000534331.6 . upstream downstream mismatches(1) AGGATGGCTAAAAGTGAAAGAAGAATCTACTCTATGGAAAGCATGGCACCTGAAATTTCTGAAGATATTGGCTGTCCTCTAGCTTATATGAGAGAG----TTTGTGCTTTACTAATCAACCAGTCATTTTTTTCTTGTGTGGCTGAAATGTAC...AGACAGGGCCACGTGGTGATGTAAATGATGCTGCCTGACACGTGCAGCTGTAAGAGGGGTGAACGGAGTACCCTCTGCATGAAATAAACTTCCTTTGCAGTTATCACTGACCTAGATTAAGCAGCGACGCAGGCCTGTTCTGTACTTTGTTTAACAATGCACAGTTTCTTTTTCTTTTGGAGATTTGTAAAGGAAGACTCAAA|AATTCATAGGATGTAAGAAAGAAAATAGTAAGAAAGGCAGATTTCTCATAAATATTATAAGTTTCATGATGGTTCTATGCTTATAGTTCTGAAAATATGTAAGCAAACATCTTAAAGATCAATGAGAAAAATGCCCTTTTGGATATATTAGAGAACAATTCAAGGAG . 11BR010 ENSG00000151474.23 ENSG00000086475.15(40670),ENSG00000286514.1(2379) -/- ./- chr10:13693898 chr10:13388968 CDS/splice-site intergenic deletion/read-through 1 3 0 115 8 medium out-of-frame . Domain_of_unknown_function_(DUF3338)(100%),FERM_C-terminal_PH-like_domain(100%),FERM_N-terminal_domain_(100%),FERM_central_domain(100%)| . . ENSG00000151474.23 . ENST00000357447.7 . upstream downstream . ^(GTCTGTATGCGGCGTACATGTGGTACAGCCAGGGAGATCAGAACGCTCACAGAACAGGCAGTGCAATTCCATGTTCCTCTTAAGTATGTTAGCCCTACCGGGAGCTGAGCTGGCCAGTCTACTTGGAGAGGAAAAGTAGATCTGGGGAAGGTGGAAGGGTCAGTTCCTAAGTGACTTCCTCCTCGGGGATGGTAAGGGCATTTGCTGATCTCCAGTGACTGCCTGGTGCCTCATGGTCAGACTCGGCTGTCTCACTCCCAGATATCTGATTTTGCAAAAAGGGACACACCTATCTGCAGCAAAGAAGACACTGACCAGATTGCGAGCG___GTGCTTTTGGATGCTCTGTAGCCACCCGGGGCCCAGGAGGACTGACTCGGCAGCAGGATTCGTGCATGGGAATCGGAGACCATGGCAGTGCAGCTGGTGCCCGACTCAGCTCTCGGCCTGCTGATG___ATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAG___CCCAAGCTGTTGGCCAAGGAGCTTCTTGACCTTGTGGCTTCTCACTTCAATCTGAAGGAAAAGGAGTACTTTGGAATAGCATTCACAGATGAAAC___GGGACACTTAAACTGGCTTCAGCTAGATCGAAGAGTATTGGAACATGACTTCCCTAAAAAGTCAGGACCCGTGGTTTTATACTTTTGTGTCAG___GTTCTATATAGAAAGCATTTCATACCTGAAGGATAATGCTACCATTGAGCTTTTCTTTCTGAACGCGAAGTCCTGCATCTACAAG___GAGCTTATTGACGTTGACAGCGAAGTGGTGTTTGAATTAGCTTCCTATATTTTACAG___GAGGCAAAGGGAGATTTTTCTAG___CAATGAAGTTGTGAGGAGTGACTTGAAGAAGCTGCCAGCCCTTCCCACCCAAGCCCTGAAGGAGCACCCTTCCCTGGCCTACTG___TGAAGACAGAGTCATTGAGCACTACAAGAAACTGAACGGTCAGACAAGAGGTCAAGCAATCGTAAA___CTACATGAGCATCGTGGAGTCTCTCCCAACCTACGGGGTTCACTATTATGCAGTGAAG___GACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAG___ATATTCCAATGGAGACAGTTGGAAAACCTGTACTTCAGAGAAAAGAAGTTTTCCGTGGAAGTTCATGACCCACGCAG___GGCTTCAGTGACAAGGAGGACGTTTGGGCACAGCGGCATTGCAGTGCACACGTGGTATGCATGTCCGGCATTGATCAAGTCCATCTGGGCTATGGCCATAAGCCAACACCAGTTCTATCTGGACAGAAAGCAGAGTAAG___TCCAAAATCCATG)CAGCACGCAGCCTGAGTGAGATCGCCATCGACCaGACCGAGACGGGGcCGCTGAAGACCTCGAAGCTGGCCAACATGGGTAGCAAGGGGAAGATCATCAGCGGCAGCAGCGGCAGCCTGCTGTCTTCAG|GCATCATCTCTAGAATGAAAGAAAGGAAGAAACTGCTGTGGTCAGCTATGATCAGACAGACTACTGGATTTTGTGTACCACATTTTACAAGGGCTAGACgGAGTCAGAAAG___AACCACTGGGAGCACCAGCAGATCCTGCCCACCTGTGAGATGGGCAGAACCCTGGCCGTCCTGCCTGCGGAGACAGCTTTAGGATGATGCTGGAAGCTACTGCTTCACCCACTGCTGTCCAAGAAGCCTTACCC MAVQLVPDSALGLLMMTEGRRCQVHLLDDRKLELLVQPKLLAKELLDLVASHFNLKEKEYFGIAFTDETGHLNWLQLDRRVLEHDFPKKSGPVVLYFCVRFYIESISYLKDNATIELFFLNAKSCIYKELIDVDSEVVFELASYILQEAKGDFSSNEVVRSDLKKLPALPTQALKEHPSLAYCEDRVIEHYKKLNGQTRGQAIVNYMSIVESLPTYGVHYYAVKDKQGIPWWLGLSYKGIFQYDYHDKVKPRKIFQWRQLENLYFREKKFSVEVHDPRRASVTRRTFGHSGIAVHTWYACPALIKSIWAMAISQHQFYLDRKQSKSKIHAARSLSEIAIDqTETGpLKTSKLANMGSKGKIISGSSGSLLSS|giisrmkerkkllwsamirqttgfcvphftrarrsqkeplgapadpahl* 11BR010 ENSG00000141979.4 ENSG00000239672.7 -/- +/+ chr19:16627872 chr17:51155651 CDS/splice-site CDS/splice-site translocation 0 4 0 38 1339 medium out-of-frame . |Nucleoside_diphosphate_kinase(100%) . . ENSG00000141979.4 ENSG00000239672.7 ENST00000409035.1 ENST00000336097.7 upstream upstream mismatches(1) ^(ACTGGAGTTTGGTTCTCGAGGCGGCGGCAGCGAGCGGCGGCGGCTCCGGCGGCTCCTCCTCCTCCTTTGGTGGCGGCGGCGGCCCGGGACCGAGACCCGGCCCCGGCTCCCCTCTCCGCCACCCCGCGCGCCCCCAACCCCCCGGCGCCGCGGGGAACATGCGGCTCCGGCTCCCGGAGGCCGGCGAGTGAGTGACCCCCGTCCCCCGCCTCAGCCCGCCCGCCCGCTGGCCCGGCCGCAACCCC)CCGCCTCGCCCAGGCAATGACAGCGGCTCCGGCGTCTCCGCAGCAGATCAGGGACCGGCTGCTGCAGGCCATCGACCCCCAGAGCAAC|AACCATGGCCAACTGTGAGCGTACCTTCATTGCGATCAAACCAGATGGGGTCCAGCGGGGTCTTGTGGGAGAGATTATCAAGCGT?TTGAGCAGAAAGGATTCCGCCTTGTTGGTCTGAAATTCATGCAA___GCTTCCGAAGATCTTCTCAAGGAACACTACGTTGACCTGAAGGACCGTCCATTCTTTGCCGGCCTGGTGAAATACATGCACTCAGGGCCGGTAGTTGCCATG___GTCTGGGAGGGGCTGAATGTGGTGAAGACGGG(CCGAGTCATGCTCGGGGAGACCAACCCTGCAGACTCCAAGCCTGGGACCATCCGTGGAGACTTCTGCATACAAGTTGGCAG___GAACATTATACATGGCAGTGATTCTGTGGAGAGTGCAGAGAAGGAGATCGGCTTGTGGTTTCACCCTGAGGAACTGGTAGATTACACGAGCTGTGCTCAGAACTGGATCTATGAATGACAGGAGGGCAGACCACATTGCTTTTCACATCCATTTCCCCTCCTTCCCATGGGCAGAGGACCAGGCTGTAGGAAATCTAGTTATTTACAGGAACTTCATCATAATTTGGAGGGAAGCTCTTGGAGCTGTGAGTTCTCCCTGTACAGTGTTACCATCCCCGACCATCTGATTAAAATGCTTCCTCCCAGCATAGGATTCATTGAGTTGGTTACTTCA)$ MTAAPASPQQIRDRLLQAIDPQSN|nhgql* 11BR010 ENSG00000105085.11 ENSG00000239672.7 -/- +/+ chr19:16627872 chr17:51155651 CDS/splice-site CDS/splice-site translocation 0 4 0 38 1339 medium out-of-frame . |Nucleoside_diphosphate_kinase(100%) . . ENSG00000105085.11 ENSG00000239672.7 ENST00000263390.8 ENST00000336097.7 upstream upstream mismatches(1) ^(ACTGGAGTTTGGTTCTCGAGGCGGCGGCAGCGAGCGGCGGCGGCTCCGGCGGCTCCTCCTCCTCCTTTGGTGGCGGCGGCGGCCCGGGACCGAGACCCGGCCCCGGCTCCCCTCTCCGCCACCCCGCGCGCCCCCAACCCCCCGGCGCCGCGGGGAACATGCGGCTCCGGCTCCCGGAGGCCGGCGAGTGAGTGACCCCCGTCCCCCGCCTCAGCCCGCCCGCCCGCTGGCCCGGCCGCAACCCC)CCGCCTCGCCCAGGCAATGACAGCGGCTCCGGCGTCTCCGCAGCAGATCAGGGACCGGCTGCTGCAGGCCATCGACCCCCAGAGCAAC|AACCATGGCCAACTGTGAGCGTACCTTCATTGCGATCAAACCAGATGGGGTCCAGCGGGGTCTTGTGGGAGAGATTATCAAGCGT?TTGAGCAGAAAGGATTCCGCCTTGTTGGTCTGAAATTCATGCAA___GCTTCCGAAGATCTTCTCAAGGAACACTACGTTGACCTGAAGGACCGTCCATTCTTTGCCGGCCTGGTGAAATACATGCACTCAGGGCCGGTAGTTGCCATG___GTCTGGGAGGGGCTGAATGTGGTGAAGACGGG(CCGAGTCATGCTCGGGGAGACCAACCCTGCAGACTCCAAGCCTGGGACCATCCGTGGAGACTTCTGCATACAAGTTGGCAG___GAACATTATACATGGCAGTGATTCTGTGGAGAGTGCAGAGAAGGAGATCGGCTTGTGGTTTCACCCTGAGGAACTGGTAGATTACACGAGCTGTGCTCAGAACTGGATCTATGAATGACAGGAGGGCAGACCACATTGCTTTTCACATCCATTTCCCCTCCTTCCCATGGGCAGAGGACCAGGCTGTAGGAAATCTAGTTATTTACAGGAACTTCATCATAATTTGGAGGGAAGCTCTTGGAGCTGTGAGTTCTCCCTGTACAGTGTTACCATCCCCGACCATCTGATTAAAATGCTTCCTCCCAGCATAGGATTCATTGAGTTGGTTACTTCA)$ MTAAPASPQQIRDRLLQAIDPQSN|nhgql* 11BR010 ENSG00000267534.4 ENSG00000127452.9 -/- -/- chr19:10222471 chr19:9820798 3'UTR intron deletion 2 1 0 9 3 medium stop-codon . 7_transmembrane_receptor_(rhodopsin_family)(100%)|F-box_domain(100%) . . ENSG00000267534.4 ENSG00000127452.9 ENST00000646641.1 . upstream downstream . ^(GTCCCTCGTCCCAGCCCCGGGACTTAGCCGAGCCCGGCTGGCAACCCCAGCCCCAGCCGCGGCCGCCCTGGGGACGCAGACGCCAAGGCCCCTCCGGCCAGGGCCGGGAGCCGGGCCGGCCTAGCCAG___TTCTGAAAGCCCCATGGCCCCAGCAGGCCTCTGAGCCCCACCATGGGCAGCTTGTACTCGGAGTACCTGAACCCCAACAAGGTCCAGGAACACTATAATTATACCAAGGAGACGCTGGAAACGCAGGAGACGACCTCCCGCCAGGTGGCCTCGGCCTTCATCGTCATCCTCTGTTGCGCCATTGTGGTGGAAAACCTTCTGGTGCTCATTGCGGTGGCCCGAAACAGCAAGTTCCACTCGGCAATGTACCTGTTTCTGGGCAACCTGGCCGCCTCCGATCTACTGGCAGGCGTGGCCTTCGTAGCCAATACCTTGCTCTCTGGCTCTGTCACGCTGAGGCTGACGCCTGTGCAGTGGTTTGCCCGGGAGGGCTCTGCCTTCATCACGCTCTCGGCCTCTGTCTTCAGCCTCCTGGCCATCGCCATTGAGCGCCACGTGGCCATTGCCAAGGTCAAGCTGTATGGCAGCGACAAGAGCTGCCGCATGCTTCTGCTCATCGGGGCCTCGTGGCTCATCTCGCTGGTCCTCGGTGGCCTGCCCATCCTTGGCTGGAACTGCCTGGGCCACCTCGAGGCCTGCTCCACTGTCCTGCCTCTCTACGCCAAGCATTATGTGCTGTGCGTGGTGACCATCTTCTCCATCATCCTGTTGGCCATCGTGGCCCTGTACGTGCGCATCTACTGCGTGGTCCGCTCAAGCCACGCTGACATGGCCGCCCCGCAGACGCTAGCCCTGCTCAAGACGGTCACCATCGTGCTAGGCGTCTTTATCGTCTGCTGGCTGCCCGCCTTCAGCATCCTCCTTCTGGACTATGCCTGTCCCGTCCACTCCTGCCCGATCCTCTACAAAGCCCACTACTTTTTCGCCGTCTCCACCCTGAATTCCCTGCTCAACCCCGTCATCTACACGTGGCGCAGCCGGGACCTGCGGCGGGAGGTGCTTCGGCCGCTGCAGTGCTGGAGGCCGGGGGTGGGGGTGCAAGGACGGAGGCGGGGCGGGACCCCGGGCCACCACCTCCTGCCACTCCGCAGCTCCAGCTCCCTGGAGAGGGGCATGCACATGCCCACGTCACCCACGTTTCTGGAGGGCAACACGGTGGTCTGAGGGTGGGGGTGGACCAACAACCAGGCCAGGGCAGAGGGGTTCATGGAGAGGCCACTGGGTGACCCCAGATAGAGACTTGGGGCTACTGAGCCAGATGCCCCCGCCCCACAGACCTGGGTGATGTTGCAAATATTTCACACCTGGAAAGGCCAGATAAGGCACTGACTAGTCACATAGCAGTGTTGCAGTGCGGTCCTGAGGGCCAGTCCAGTGGCTAGTGTGACCCCTTTAGAACTGGATCCTGGGGAGGCCAGGGCAGGGGACCTGTGAAGAGCCAGGGTGAGGGCAGGCAGCATTTAAGGGGAGCTCAGGGCAGGAGCACTTTACCACCTGGTACAAAGGATTTTTTTTTTTTTTTGAGACGGAATCTTGCACTGCTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACCGCAAGCTCCGCCTCCTGGGTTCATGTCGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCTGCCACCACACCTGGCTAATTTTTTGTACCTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCGCTCTGTTGCCCAGGCTGGAGAGTGCAGTGGTACGGTCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCAGCCTGAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGGTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGTGTTGGCCTCCCAAAGTGTGGGATTACAGGCGTAAGCCACCTCACCTGGCGGTACAAAGAATTTCTGCATTTTCTTCCCTGGCCCCTAGTCCTGCACCGATTTCTCCTTTTCGAATGTATTCCTCCTGCCACCTTCTCTGGGCAACTTCGTGCGACTACAGAACCACTGTCCTGAGGAGCTAGAGGCCTCCTCTCTGACCATCCAGAGCCCAAATCCACAGCTTCCCCAAATTTCATCAGCTGCCACTTGACGACTTCTCCCCGTCTCTCTGAGGCC)CGGAAACCACGGCTGGAGGTGGGGAGGGGATGGCGGCTGAGGTCCATTCCTCATTCTCAGACCTCATTGCTCAGTTGCACTATTTGGGGCACAGAATAATCACCAAAAGTGAGAAAAACGAGTTTGGGTGGCTGGGGAGGACTTTGGGACTCTTGATGCAAGGCGCAACTTGAGAAAATTCT|TTTTTGAGATGGAGTCTCGCACCCGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTGGGCTCACTGCAACCTCCACAATCTCTTTCATATTC[t]TTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCACTCAGGCTGGAGTGTGG . 11BR010 ENSG00000167487.12 ENSG00000198909.8 +/+ +/+ chr19:18659784 chr17:63695354 intron 3'UTR translocation 1 2 0 2 94 medium stop-codon . . . . ENSG00000167487.12 ENSG00000198909.8 ENST00000300976.9 ENST00000361733.8 downstream upstream duplicates(1) ^(ACTCGAACGCGCGACGGCGGGGGGAAGA)TGGCGGAGTCCGGCGGTAGCAGCGGTGGTGCTGGTGGCGGCGGCGCTTTCGGCGCGGGCCCGGGCCCCGAGCGCCCGAACAG___AACCGTTCTGGGGCTTTGGATCGCTTCTCATGGGTTGGGAAGCCGACCATGGAGATGAGGCCAGCCCGGGGCCGGAGGAGGGGCGCCTGCCCTGACAG|ACTGTTACAGGTGACGGACGCCTCAAGAGAGAGAAGAGAAAATGAAAGCAGCTGGTTTTGCAGAAGTGTGTGTCGCATGCGCCAGTTGGGCCTGGACCCTCCTGTGTCCATCCCTGTTCCCCCAGGGGCTCTATCAGCCCCTGTACCCCACACTGCCCTCTGAAGAC(AACACAGGCTCCTGCTTCCACCTCGGCCCTTGCCCAGGGTGGGGCCTGGCCCTCATCTTGACCAAAGCTGCTGTGTGGCAGCTCGGCCTCTCTACGACCCCATCTTGGTGGCTGCACACTCTTCCTGGCCCGCACCCCCATCCCCAGTCCCTGTTCCCCAAGAGGATACAGAGCACGGTGCTGGCTGACTCAACTGTGCGTCCCAGGTTCAGGGTCTTACAGAGCTCCACCCCCTGGGGTCTTACCTCACTGGGAATGTGTTTTGAAAATGAATTTGAAGACAAGCCAACAAACCCTGCACTCCAAAAAAGCAAAACAGACCCTAATTTTTTTGTGCCAAAAACTGTGGACATGCTGGCTCAGCATCCTCAGGACCAAGTTGTTGCTTAATTTATTGTTTTTTAATAACTAATCCAGATAAAAAGTTGTGGGGCTTCAGGGTGACCTGGGCCCAAAGGTTCTGAAGGGCAGTTCCTGGCAGCCCCAGGCTTGCTGTGGGAAGGGGCCGTGCCGTCACTTTCTCATCATTCCATGGGGTGTGTCTGCCTGGGCCAACTCTGCATGGAGAGGCCAGGGCTGGGGACAGTCCGCACTCTGCCACCCTCCTGCCCCTTCCACCCACCCCAGCTCTATGTCTGTGTCTGAATTGTGGATCGTGCAGCCATGGTTATTGTGGAACTGTGGAACCTGCAGCCATAGTTATTTGACTATATCTTGACCGAGGGCTTGCAGTGCAAAGCCAGGCCAGTGTTGCGCATTACTTACAATAAAAGGGATCATTTATA)$ . 11BR010 ENSG00000151461.20 ENSG00000148468.17(64725),ENSG00000077943.8(77940) -/- ./- chr10:11964007 chr10:15436014 intron intergenic duplication 0 2 0 93 5 medium out-of-frame . MIF4G_domain(100%)| . . ENSG00000151461.20 . ENST00000397053.6 . upstream downstream mismappers(2) ^(GCTGGTAGTGGCTACCTTACGTATTGCCAGTCTGAAAAATTCGCTCTTCTCATCGACTGGGGAATTTGAAAGAGCTGTTAAGTGAATGGCACTCATATGAGCCTTTGCCCCGGACCCGCCACCCCAGAGTCAAGCTGAGGGCATCGGCATGCCGCAGGGAAGACGATCAGGACTGTTTTTAATCGGGCAGTCGCGCGGATGGCCTTTTCCCTCTCGCCTCCTTCCGCCCCGCCCCCACTCTCAGCCCGGCCGCGCTG___ATTGTCCTGGGTCACATAATGCCAGCTGAGCGTAAAAAGCCAGCAAGTATGGAAGAAAAAGACTCTTTACCAAACAACAAGGAAAAAGACTGCAGTGAAAGGCGGACAGTGAGCAGCAAGGAGAGGCCAAAAGACGATATCAAGCTCACTGCCAAGAAGGAGGTCAGCAAGGCCCCTGAAGACAAGAAGAAGAGACTGGAAGATGATAAGAGAAAAAAGGAAGACAAGGAACGCAAGAAAAAAGACGAAGAAAAGGTGAAGGCAGAGGAAGAATCAAAGAAAAAAGAAGAGGAAGAAAAAAAGAAACATCAAGAGGAAGAGAGAAAGAAGCAAGAAGAGCAGGCCAAACGTCAGCAAGAAGAAGAAGCAGCTGCTCAGATGAA___AGAAAAAGAAGAATCCATTCAGCTTCATCAGGAAGCTTGGGAACGACATCATTTAAGAAAGGAACTTCGTAGCAAAAACCAAAATGCTCCGGACAGCCGACCAGAGGAAAACTTCTTCAGCCGCCTCGACTCAAGTTTGAAGAAAAATACTGCTTTTGTCAAGAAACTAAAAACTATTACAGAACAACAGAGAGACTCCTTGTCCCATGATTTTAATGGCCTAAATTTAAGCAAATACATTGCAGAAGCTGTAGCTTCCATCGTGGAAGCAAAACTAAAAATCTCTGATGTGAACTGTGCTGTGCACCTCTGCTCTCTCTTTCACCAGCGTTATGCTGACTTTGCCCCATCACTTCTTCAGGTCTGGAAAAAACATTTTGAAGCAAGGAAAGAGGAGAAAACACCTAACATCACCAAGTTAAGAACTGATTTGCGTTTTATTGCAGAATTGACAATAGTTGGGATTTTCACTGACAAGGAAGGTCTTTCCTTAATCTATGAACAGCTAAAAAATATTATTAATGCTGATCGGGAGTCCCACACTCATGTCTCTGTAGTGATTAGTTTCTGTCGACATTGTGGAGATGATATTGCTGGACTTGTACCAAGGAAAGTAAAGAGTGCTGCAGAGAAGTTTAATTTGAGTTTTCCTCCTAGTGAGATAATTAGTCCAGAGAAACAACAGCCCTTCCAGAATCTTTTAAAAGAGTACTTTACGTCTTTGACCAAACACCTGAAAAGGGACCACAGGGAGCTCCAGAATACTGAGAGACAAAACAG___GCGCATTCTACATTCTAAAGGGGAGCTCAGTGAAGATAGACATAAACAGTATGAGGAATTTGCTATGTCTTACCAGAAGCTGCTGGCAAATTCTCAATCCTTAGCAGACCTTTTGGATGAAAATATGCCAGATCTTCCTCAAGACAAACCAACACCAGAAG___AACATGGGCCTGGAATTGATATATTCACACCTGGTAAACCTGGAGAATATGACTTGGAAGGTGGTATATGGGAAGATGAAGATGCTCGGAATTTTTATGAGAACCTCATTGATTTGAAGGCTTTTGTCCCAGCCATCTTGTTTAAAGACAATGAAAAAAGTTGTCAGAATAAAGAGTCCAACAAAGATGATACCAAAG___AGGCAAAAGAATCTAAGGAGAATAAGGAGGTATCAAGTCCCGATGATTTGGAACTTGAGTTGGAGAATCTAGAAATTAATGATGACACCTTAGAATTAGAGGGTGGAGATGAAGCTGAAGATCTTACAAAGAAACTTCTTGATGAACAAG___AACAAGAAGATGAGGAAGCCAGCACTGGATCTCATCTCAAGCTCATAGTAGATGCTTTCCTACAGCAGTTACCCAACTGTGTCAACCGAGATCTGATAGACAAG___GCAGCAATGGATTTTTGCATGAACATGAACACAAAAGCAAACAGGAAGAAGTTGGTACGGGCACTCTTCATAGTTCCTAGACAAAG___GTTGGATTTGCTACCATTTTATGCAAGATTGGTTGCTACATTGCATCCCTGCATGTCTGATGTAGCAGAGGATCTTTGTTCCATGCTGAGGGGGGATTTCAGATTTCAT___GTACGGAAAAAGGACCAGATCAATATTGAAACAAAGAATAAAACTGTTCGTTTTATAGGAGAACTAACTAAGTTTAAGATGTTCACCAAAAATGACACACTGCATTGTTTAAAG___ATGCTTCTGTCAGACTTCTCTCATCACCAT)ATTGAAATGGCATGCACCCTGCTGGAGACATGTGGACGGTTTCTTTTCAGATCTCCAGAATCTCACCTGAGGACCAGTGTACTTTTGGT|GTAGAGATGGAGTTTCACCGTGTTGGTCAGGCTGGTCTCGAACTTCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAGAACTATGCCTTTTAAAGCCAAAC MPAERKKPASMEEKDSLPNNKEKDCSERRTVSSKERPKDDIKLTAKKEVSKAPEDKKKRLEDDKRKKEDKERKKKDEEKVKAEEESKKKEEEEKKKHQEEERKKQEEQAKRQQEEEAAAQMKEKEESIQLHQEAWERHHLRKELRSKNQNAPDSRPEENFFSRLDSSLKKNTAFVKKLKTITEQQRDSLSHDFNGLNLSKYIAEAVASIVEAKLKISDVNCAVHLCSLFHQRYADFAPSLLQVWKKHFEARKEEKTPNITKLRTDLRFIAELTIVGIFTDKEGLSLIYEQLKNIINADRESHTHVSVVISFCRHCGDDIAGLVPRKVKSAAEKFNLSFPPSEIISPEKQQPFQNLLKEYFTSLTKHLKRDHRELQNTERQNRRILHSKGELSEDRHKQYEEFAMSYQKLLANSQSLADLLDENMPDLPQDKPTPEEHGPGIDIFTPGKPGEYDLEGGIWEDEDARNFYENLIDLKAFVPAILFKDNEKSCQNKESNKDDTKEAKESKENKEVSSPDDLELELENLEINDDTLELEGGDEAEDLTKKLLDEQEQEDEEASTGSHLKLIVDAFLQQLPNCVNRDLIDKAAMDFCMNMNTKANRKKLVRALFIVPRQRLDLLPFYARLVATLHPCMSDVAEDLCSMLRGDFRFHVRKKDQINIETKNKTVRFIGELTKFKMFTKNDTLHCLKMLLSDFSHHHIEMACTLLETCGRFLFRSPESHLRTSVLLv|* 11BR010 ENSG00000213047.13 ENSG00000266028.7 -/- +/+ chr1:197715031 chr1:206384014 CDS/splice-site CDS/splice-site inversion 0 2 0 14 44 medium in-frame . uDENN_domain(100%)|Fes/CIP4__and_EFC/F-BAR_homology_domain(100%),RhoGAP_domain(100%),SH3_domain(100%) . . ENSG00000213047.13 ENSG00000266028.7 ENST00000620048.6 ENST00000573034.7 upstream upstream . ^(GCAAGAAGGTGCAGGAGCCGCAGCGGGCGGCCCCGGTCGCAGGAACTGAGAGGCCTCAGCTTTGGTGGCGGCTACCGGCGGAGACGGGGGCGGCGGCCACGCCACCGCTGCTGTCACAGAAAGGCTCTGGTGGGTGGGGTGGGAGGCGGGGAAGTGCCGGGGGCGCAGCCGACATGGGCCCGCCGCCACGGCTGCTGTGAGCAGCCTCTTTCCCTGTGTGGCCGCCGGCGTGGGCGGGGACGGCGCGACCCTCGCGCGGCCGGGCTGCGGGCTTCCAGGCCAGCGCGCGGGGGCCGGACGGACAGCCCCACACCGACATGTAACCATGGACTGCAGGACCAA___GGCAAATCC)AGACAGAACCTTTGACTTGGTGTTGAAAGTGAAATGTCATGCCTCTGAAAATGAAG___ATCCTGTGGTATTGTGGAAATTCCCAGAGGACTTTGGAGACCAG|AGTAAAGAAGTCGGCCAGCAGCTCCAAGATGATTTGATGAAGGTCCTGAACGAGCTCTACTCG___GTGATGAAGACATATCACATGTACAATGCCGACAGCATCAGTGCTCAGAGCAAACTAAAGGAGGCGGAGAAGCAGGAGGAGAAGCAAATTGGTAAATCGGTAAAGCAGGAGGACCGGCAGACCCCACGCTCCCCTGACTCCAC(GGCCAACGTTCGCATTGAGGAGAAACATGTCCGGAGGAGCTCAGTGAAGAAGATTGAGAAGATGAAGGAGAAG___CGTCAAGCCAAGTACACGGAGAATAAGCTGAAGGCCATCAAAGCCCGGAATGAGTACTTGCTGGCTTTGGAGGCAACCAATGCATCTGTCTTCAAGTACTACATCCATGACCTATCTGACCTTATTGAT___CAGTGTTGTGACTTAGGCTACCATGCAAGTCTGAACCGGGCTCTACGCACCTTCCTCTCTGCTGAGTTAAACCTGGAACAGTCGAAGCATGAGGGTCTGGATGCCATCGAGAATGCAGTAGAAAACCTGGATGCCACCAGTGACAAGCAGCGCCTCATGGAGATGTACAACAACGTCTTCTGCCCCCCTATGAAGTTTGAGTTTCAGCCCCACATGGGGGATATG___GCTTCCCAGCTCTGTGCCCAGCAGCCTGTCCAGAGTGAGCTGGTACAGAGATGCCAACAACTGCAGTCTCGCTTATCCACTCTAAAGATTGAAAACGAAGAG___GTAAAGAAGACAATGGAGGCCACCCTGCAAACCATCCAGGACATTGTGACTGTCGAGGACTTTGATGTGTCTGACTGCTTCCAGTACAGCAACTCCATGGAGTCCGTCAAGTCCACGGTCTCTGAAACCTTCATGAGCAAGCCCAGCATTGCTAAGAGGAGAGCCAACCAGCAAGAGACAGAGCAGTTTTATTTCACA___AAAATGAAAGAGTACCTGGAGGGCAGGAACCTCATCACCAAGTTACAAGCCAAGCATGACCTTCTGCAGAAAACCCTGGGAGAAA___GTCAGCGGACAGATTGCAGTCTAGCCAG___GCGCAGCTCAACTGTGAGGAAACAG___GACTCCAGCCAGGCAATTCCTCTGGTGGTGGAAAGCTGTATCCGGTTTATCAGCAGACACG___GACTACAGCATGAAGGAATTTTCCGGGTGTCAGGATCCCAGGTGGAAGTGAATGACATCAAAAATGCCTTTGAGAGAG___GAGAGGACCCCCTGGCTGGGGACCAGAACGACCATGACATGGATTCCATAGCTGGTGTCCTGAAGCTTTACTTCCGGGGGCTGGAACACCCTCTCTTCCCCAAGGACATCTTTCATGACCTGATGGCCTGCGTCA___CAATGGACAACCTGCAGGAGAGAGCTCTGCACATCCGGAAAGTCCTCCTAGTCCTGCCCAAAACCACTCTGATTATCATGAGATACCTCTTTGCCTTCCTCAATCA___TTTATCACAGTTCAGTGAAGAGAACATGATGGACCCCTACAACCTCGCCATCTGCTTCGGGCCCTCGCTAATGTCAGTGCCAGAGGGCCACGACCAGGTGTCCTGCCAAGCCCACGTGAATGAGCTGATCAAAACCATCATCATCCAGCATGAGAACATCTTCCCAAGCCCCAGGGAGCTGGAGGGCCCTGTCTACAGCAGAGGAGGAAGCATGGAGGATTACTG___TGATAGCCCTCATGGAGAGACTACCTCGGTTGAAGACTCAACCCAGGATGTGACCGCAGAGCACCACACGAGCGATGACG___AATGTGAGCCCATCGAGGCCATTGCCAAGTTTGACTACGTGGGCCGGACAGCCCGAGAGCTATCCTTTAAGAAGGGAGCATCCCTGCTGCTTTACCAGCGGGCTTCCGACGACTGGTGGGAAGGCCGGCACAATGGCATCGACGGACTCATCCCCCATCAGTACATCGTGGTCCAAGACAC___CGAGGACGGTGTCGTGGAGAGGTCCAGCCCCAAGTCTGAGATTGAGGTCATTTCTGAGCCACCTGAAGAAAAGGTGACAGCCAGAGCGGGGGCCAGCTGTCCCAGTGGGGGTCATGTAGCCGATATTTATCTTGCAAACATCAACAA___GCAAAGGAAGCGTCCAGAATCTGGGAGCATCCGGAAAACTTTTCGGAGTGACAGCCATGGGCTGAGCAGTTCCCTGACTGACTCCTCCTCCCCAGGGGTGGGGGCTAGCTGCCGCCCATCCTCCCAGCCCATCATGAGCCAGAGCCTCCCCAAAGAAGGGCCAGATAAGTGTTCCATCAGTGGGCACGGGAGCCTCAACTCCATCAGCCGCCACTCATCCCTGAAGAATCGGCTGGATAGTCCACAGATCCGGAAGACTGCCACAGCGGGAAGGTCAAAAAGCTTCAATAACCATCGGCCCATGGACCCTGAGGTCATTGCTCAG___GATATTGAGGCAACAATGAACTCGGCCCTGAATGAGCTACGGGAACTAGAACGGCAGAGCAGTGTCAAACACACCCCTGACGTGGTTCTGGACACCTTGGAGCCCCTCAAAACCTCCCCAGTGGTGGCCCCCACGTCAGAGCCCTCCAGCCCTCTGCACACCCAGCTCCTCAAGGACCCCGAGCCCGCCTTCCAGCGCAGCGCCAGTACTGCTGGGGACATCGCCTGCGCCTTCCGGCCTGTCAAGTCTGTCAAGATGGCTGCCCCGGTCAAACCACCAGCCACACGGCCCAAGCCCACTGTCTTCCCCAAAACAAATGCCACTAGCCCTGGTGTCAACTCATCAACTTCCCCACAGTCTACTGACAAGTCTTGTACTGTCTGAGGGATAATAATTTAATTGTTCTAGACAAGGGGACTATAGGGACTGACTGTTATTAAAATCTTCCTATTTAACTAGCTTGGGGACTTCAGTTGAAAATTAGGTTCTAAGTTGTTCTTGCAGGAATTAGCCTCCCCGTCTCCCAAAACCTTGAGAATGAAGCCCTTGGTATCGCCTCTCCCTTCCCACTGCCCTCTGCTTCCCCCAGTCGTCGTAATTCAGCCAGCTGCAGTCCGTACCGTTCTTAGGTTAGCCAGAGACAGGTTTTCATTATCAGGTCACTGTGAAATCTGGTAAGGCAGTCCTGAGGACATGGGCTCAAGTCTCAGTCCCCTCAGACCACGGTGATGCCTTGACCAGATGGTTGGCTACTGCCATCCAGCTTTCAGTGGCATCTTGTTTTGGGAACTGATTATAGAGAATCATATATAGTCCAGTCTTCATTTTACATACACACACATATTTTACACACACACACATTTTACACACACACACACACACACACACACACATATGTTTTTCTAGTCTCTGGCATGTGTAGCCTCTCCTGGTCATAGACCAGTCTCTTTGTAAGTTATTGTGGCAGTTCACACAGTAGCCACCAGGGGTCTCTGTTTCCATCACAAACTTTGTTCTGTCTGGGCCAGAGAACCTAGCCTTTGAAATCTCTCCATCATATGAAACATAACGGGATGGGACAATCCCGTAACCTGTTTGGGGTTGGGGGCTTTCTCTCTGTGTTCTTTCCATTGATGTGAATTGGTCATTGGTGTTTGCTCTTGCCTCTCCTCCATCCCCTAGAAGTACACCCCCGTCTTATTAAGGAGCTTTTAAAGTTTTTCTGAATGTATAGACATTTCTCGGGTTCCTACCTTTGTCTCTGATGGACCATTTTCCATTTAAGACATTTTCCTGTATAAGACAGTTTTATAGCTGGTTCCTTTTAGGGTAAAGAGTCTTAAGAGAGTTTTATTGTGTCTATGGCAGGTTTGGGAAAGGTAAGAAATGGGTCCTTTTTCCTCCTAATGTTTTTGGCACTTAAAACATAAAATTCATTATCCTATTAAAAAATTAAATTCAGCTTTGCTAATCCAGAAATTGTTCCCAAATGAAAACTTGTTTTAAGTCCACCCCTTAGTTTCCTTATTTTACAAGGTCTCTCTTCAGGGACCAACAGGGGCTTAGAGAGCCTTAGTTAGATTAAAGGGAGACCCTACCTCTTAAAACCAGTTTTCATTTATGCAAACAAGGACAATTAAGGGAACCCTGACCCCACAGGCTCTCAAGTCTTCCCAAGGCCAGAATCGAAAGAAAATTAAAATTTGAATGCTGAATATTCTGGCTCTACTCTGGCCTTTTTTCTGGTTCCCTTCCAAAATGCACAAATCATACCCTTGTCTGCTCCAATTCAGTCTCCAAACCTGGTGCCTGTGCTCCTGGCCCCCCTAGCATCATGCTATCCCAGGAGTATCAGGACCAGACACATCCACAGCCAGGCTCATGGGTCTCAGACAGCAACTTGAGTTAAAGCTGAAACTCATCCTTCTTCTCTGTGTTTTCTGGTTTAAAAGCTGCACTTATATTTTAGCCTTATTATTTTCTGTAGTTCCGGAGAGATGGTGGGTTGCCATTCTGGTAGGAAAATCTGAGTTTTCTTATCTTTGACCTAGAAGAGATTCTTTTTGGACCAACCTGCGAAATTGGTAGTTAGGTCTATGGAAAGTGGTAGGATTTTTTTTTTTTTAATCCTGTGCAAAGGAAAAGAGGTGCTTTGTGGGAAATCACTAATGAGAAGGCTAACCTGCAGCACCAGAGAAACCTTTCCAAGTGCTAGGCAGGAGAACTGAAGAACTCTTTCAGTGAAGTGAGTCAGCCTAGAAGAGGCAACCCACAGTCTTGATTTTTGTTGCTGTTTCCTGACCTGTTCTTGCCTGTCACCTGGGCCTACACAGGTCCCAAGCCAACGGGGCTTTCATACCCAAGGATCTGTTTCCTTGCTGAAAATGAAACCCTATCTTTCACTTTACATTCCTTTCAATCCAACTGATCAAAACTGGTACCCACACTTGCCCTTTCTCCCTCTCTCCAGCACACTCCCCTCTAAGAAAGTAAAAGCAAAGCTTTCTTAATGGCAACACTTTGGGCCTGTTCTGTTGCTCCTGCCTTATTTCTCTTTCAACCCTGTACATGACTCGTGTTCACCATCCCCTTGATCAGTGTCCATCCGCGCTAATTTGCATCATGAACTGAACAGTGTGTGAGTGGTCACCTACTAAACCCAGCTCTGGGGGCAGAGCTGTCTTCCCCATCTCTGGTGCTCCTAACACCTGTGAGATGGTCCTGTCGAGAGGACTAGGAACCGATAGGAGGAGAGTCCTTCTCGGCAGAGCTCACTGCAAACAACTGGAATTGAGGTTGCACACTGTGATTTTTACACCGAAAAGCCAAAAGGAGCTGGCCATCCAGGGCCTAGGGAGACCAGCCTTCCTCAGCTATGCTTGCCGAAACCAGCATGATGCTTCAAAGAGCCCTGCTCCACCCCTCATGGCATGGATCCTTTTCCTGGTGTGGACTCTGAAGGGTCAGTCTTCGGGGAAGAGAGGTGGGGTGGGGCTACTAGCATCCCAATTTAGAAAATAGAGGAGTTTGTAGCCAGCAGCCTGTAAACTGGAAACACTGGTCTCAGCCAACCTCCTCAGGGCGCCCTGGCTTCTCCCCAAGGAGATGAGGAGCGGTGATGCCAGCACCGGGATGCGCAGAGCACTGGAAGGGCTGGTGCAGATCTACTTCCCATGCAGAAGAGAAGTCACATCTTCCAGGGAATCGCAATGTTGTGGCGTCTGACTTGTATGTCACATTTGTGTAAAATGGTATATTCTTTAAAATAGTGTTGATAACTGGAATATTGTATGTATGCTTGGAGATGCTTTGTGTGAACCTAAGACTGTCACTCAACAGATGTTGGATTGGGGAAAATCCAAAGCACAACTTCAAAATAAAATACATTTTTAGGTTTCGATGCTGCA)$ MDCRTKANPDRTFDLVLKVKCHASENEDPVVLWKFPEDFGDQ|SKEVGQQLQDDLMKVLNELYSVMKTYHMYNADSISAQSKLKEAEKQEEKQIGKSVKQEDRQTPRSPDSTANVRIEEKHVRRSSVKKIEKMKEKRQAKYTENKLKAIKARNEYLLALEATNASVFKYYIHDLSDLIDQCCDLGYHASLNRALRTFLSAELNLEQSKHEGLDAIENAVENLDATSDKQRLMEMYNNVFCPPMKFEFQPHMGDMASQLCAQQPVQSELVQRCQQLQSRLSTLKIENEEVKKTMEATLQTIQDIVTVEDFDVSDCFQYSNSMESVKSTVSETFMSKPSIAKRRANQQETEQFYFTKMKEYLEGRNLITKLQAKHDLLQKTLGESQRTDCSLARRSSTVRKQDSSQAIPLVVESCIRFISRHGLQHEGIFRVSGSQVEVNDIKNAFERGEDPLAGDQNDHDMDSIAGVLKLYFRGLEHPLFPKDIFHDLMACVTMDNLQERALHIRKVLLVLPKTTLIIMRYLFAFLNHLSQFSEENMMDPYNLAICFGPSLMSVPEGHDQVSCQAHVNELIKTIIIQHENIFPSPRELEGPVYSRGGSMEDYCDSPHGETTSVEDSTQDVTAEHHTSDDECEPIEAIAKFDYVGRTARELSFKKGASLLLYQRASDDWWEGRHNGIDGLIPHQYIVVQDTEDGVVERSSPKSEIEVISEPPEEKVTARAGASCPSGGHVADIYLANINKQRKRPESGSIRKTFRSDSHGLSSSLTDSSSPGVGASCRPSSQPIMSQSLPKEGPDKCSISGHGSLNSISRHSSLKNRLDSPQIRKTATAGRSKSFNNHRPMDPEVIAQDIEATMNSALNELRELERQSSVKHTPDVVLDTLEPLKTSPVVAPTSEPSSPLHTQLLKDPEPAFQRSASTAGDIACAFRPVKSVKMAAPVKPPATRPKPTVFPKTNATSPGVNSSTSPQSTDKSCTV* 11BR011 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 21 3 0 138 53 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAA)GCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR011 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 18 0 26 113 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(3) GGCGGCGGCaGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCC(AACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR011 ENSG00000222777.1(10169),ENSG00000273576.1(10502) ENSG00000265460.6 ./+ +/+ chr17:39556413 chr17:39238687 intergenic exon/splice-site duplication 9 7 1 447 28 high . . . . . . ENSG00000265460.6 . ENST00000579400.6 downstream upstream . TTACAGATGTGAAAAACAAGACCCAGAGAGGGGAAATCATTTGAATCCTGTCCTGGTATTGCTTTGTGTTCCTGGATTTGGAGAATTTCTGGGAACACAGGAAAAGGAAAG___TGAATGCCACCAGGATCTGAACCCAAGATTCCAGCCTCGGTCACCACCCTGACCCTGAGAATGCCACTGGGATGGGGAGAACTTGTCAGTCTTCATCCTTCCCCACAAGTATACTGAAGCCAGGACAG|TCCTATGAGGTCCGGATGCTCTGCAGCTCCAAGCCGTGTGATGCCACCCAGTGCCCCCAGCTGCTGAAG___ATGTGCCACTGTCCGTGGGAGTGATAGAACCCCAAGTGCTGCTCTCACAACTCAACATGGTGGAGTTTCACTGGGACCCAACAAAGAG(GACATCTCTCTTCCTGCAG___GGGAAAATAAGAATGACTCTCGGCCAG___TTCACACCTCGGAAGAAAGGTGGAGAGAAAGGCATCCCTTTCCGCCTCCAGATCGACACCTTCAGGCCCAGTGACAAGGGGCTGCCGCTAGACCACCTGCACTCAGCTGGCTGCCTCATCAAGGTGTTTAAGGTACAGGCAGCA___AAGGAGCGGAAACTGAAAATGGACCGTGAGAAGATGGAGAAACAGCCCCTGCATGAGAGGGACAAGTATCAGACCGCCTGCGAGAGCACTGTCTTCTTGGAG___TGTTCGCCATGGCCGGAGTCCCCTGCAAGGCCCCGGCCACCTCTCAGCTCTCTGGCTCTGACCTCTCCCCACTCCTGCAGGCTCTTGTCCCCAGAAAG___AAGCCTTCTCCGCAGCTTCATCTCAAGCTCCAGAATGGAGTGGCCCTGCCCCCT___CCCATCTCAGAGACACAGCAATGGTTGCATCAGCACTGGTTCTCCAGCTACTGCCGGATGCTGGCCAACTTCACTG___GTCTGGATCTGCTGAAGCTTACATGCCAGGACCTTATCCAAATCTGCGGGGCTGCTGATGGGATCCGCCTTTTCAATACTCTTAGAGCCAGG)$ . 11BR011 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 7 0 17 23 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1),mismatches(1) CTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___...GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGC(AAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR011 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 4 7 0 18 11 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream mismatches(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGC)AAGGCATTACAAATCTAGaaCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTG___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATGGCCACTCAGACTCCTGCTGGATG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSrtPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvdsrplpdvaltgkctrecdeyghsdscw 11BR011 ENSG00000162924.15 ENSG00000242158.3(31260),ENSG00000271134.1(10611) +/+ ./+ chr2:60891825 chr2:60672262 CDS/splice-site intergenic duplication 3 5 0 33 11 high out-of-frame . Rel_homology_DNA-binding_domain(100%)| . . ENSG00000162924.15 . ENST00000295025.12 . downstream upstream duplicates(1) ^(AGCCGCGGGAAATTCCCCTCCCGCCAGGCTGCTCGCCTCTCGGCTGGGCCAGCACTCGGCTCTCCCCGCTCCGCCCCCTGCCCCTGGCTCCCGTACGGTGGACGGCGACGCTGGGTGACCCGGGGTGCAAGAATTCAGGGGTTGGGAAGGTGTGAGCCGCAAACCCAGCGGAGGGCGGGAAGAAGGAGGAGGCCTCTAGGGTGGTCGGGGGACTGGGGGCCCCGCCGGCAGAGGTCCCTCGGCCTCCTGACTGACTGACTGCGGCCGCCTCCGGCCAGGACGCTGGGAGCTGCCTGCGGGAAGGTGCGGGGAGCGGAGCCATGGCCTCCG___GTGCGTATAACCCGTATATAGAGAT)AATTGAACAACCCAGGCAGAGGGGAATGCGTTTTAGATACAAATGTGAAGGGCGATCAGCAGGCAGCATTCCAGGGGAGCACAGCACAGACAACAACCGAACATACCCTTCTATCCAG|GTGCAGATAAATGCTGGAATCTTATTTCAATCAGAAAGTGCCAAGAACAAGAAAAGATGGAGAATTTTGATTGTCGTTGAGGACAGAGCCTCAAACAGCTGGAGGCCTTCCATTCTCTTTTAGCTTCCATCCATCTAAGAAAAAAAATGCACCAAGGATTTCACTCAATTTGTGCAGAAATATGAG MASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQ|vqinagilfqsesaknkkrwrilivvedrasnswrpsilf* 11BR011 ENSG00000145012.13 ENSG00000234238.2 +/+ +/+ chr3:188225527 chr3:188146566 5'UTR/splice-site exon/splice-site duplication 1 5 0 10 9 high . . . . . ENSG00000145012.13 ENSG00000234238.2 ENST00000618621.4 ENST00000664181.1 downstream upstream . ^(GTCACTTTTATTTGGGGGTGTGGACAGCTGCTTTCCCAGGGGAGTACTTCTTACAGTGGGATTTCAAGACAAGATCGGCCTGAAGAAAAATTATATTTGTATATTTTTTAAAAA___GTG)GGAACTTTGAGGCTCAGAGACAGAGCAGAAGACAGAACCTGGTCTTCTGATTCCCTGTGTTCTGCTTTTTTCATTGTTCCACTGGACGCTCATCAGAGGGAAGATCTTTTTCCTCAATTG|TGGGTCCTCGGTTGTGTCTCCAGGATCATCGTTGCCTGCCCCATCACCATCAAAGGAGCCTCTCAGCTGCAGTGGTGGATCCAGCCCATCCAGTGGTCCACCTGGGAGGTCTCAGCCAAGCTATCTCAACACACTCCTCTGCTTGGAATTGGT(ACTATGTATTATCTTTGTTTTAGGATGTAGGGTAGGAACTGAGTCTATTAATGTTTTTCTCAACACTGTATTCCCAGGCCTAATAAGGCTAGTAGGTGCAGTAATAACCTGTTGTTAGAGCAAAAAAGATGGCATAAGTTGTCTCCCTTGTTGTTTGAGCCTCTTTGAAACTTTTCATTGGTAGTGAACACAAAAAGGATTAAAGCTCTGCCTACCAACATCTCTGCCACAAGAGACTGGCCCCCACTGTGAGAATGCTCTGCCTGATCTCTGAAGATTCACAGGCTTCCAGGCACGATCATATCTCTTCTAAGTCCTGCACTTACCTGAGGTCAAAAGCCTTTAAATTGGTACAGGTGGCCGAGTTGGGATACAACAAAATGCATTCAGACAATCCGATCCTGTGATCTGGCAAAATGCAAAACATTATAGCCACTTACTAAAAACTGGGTAACATTGTGCAGAAACTCAGGGGACAGATACAAATGATTGTTTGTCCATATTGATTTGATTCCTGTAAGCTAATGAAGAAATTACCTTGTGACATCAAAGACCTAGTACTCAATAAAAAGAGAAAACATTCATTTAGGAA)$ . 11BR011 ENSG00000170873.18 ENSG00000249859.11 -/- +/+ chr8:124699526 chr8:127890589 CDS/splice-site exon/splice-site inversion 2 3 0 84 179 high out-of-frame . IRSp53/MIM_homology_domain(100%)| . . ENSG00000170873.18 ENSG00000249859.11 ENST00000518547.5 ENST00000651587.1 upstream upstream . ^(GCGGCCGCAGCTGCGAGCAACAGATCCGGACGCCGCGAGCTGACCCGCTCTGCTGTTGGGCGATTTTTTTTTAATTGCAGAAAAATTTATTAAATTGGAAAATCTTGCGTTTTTCAATGGCGCTGGCCCCGGGTCAGCGGGCGATTTTCTCTGCATCAAGATGGGCTTTGCCGTTTCCGTAGTGGGCACCAGTGGTGGCCTGATTGTCAGTCTTCTCCCGGCATTTTTAAGGCCAGGAGCCGAGCGCTGCTTGTAGGCGAATACCCTACAGAGCGGTTTGGCTTTTTAAATTACTGTTATTATTTTGGGCAGAGAACAGTCGGTCTGGTGCACCCCGTCCTCGCTGCAGAAGAGGCTGCGAGTCCGAGGTGGGTCTCTCGGAAGGTGAAATTCCTTCTGGGGTGAGCGAGCCCCGGCCCCGCGCGCAGTCCAGCGGCCCCGCGTGTGTGCCCTCGCCCTGCCGGAGCCGGGAAAATGGAGGCTGTGATTGAGAAGGAATGCAGCGCG)CTCGGAGGCCTCTTCCAGACCATCATCAGCGACATGAAG___GGGAGCTATCCAGTTTGGGAAGATTTCATAAACAAAGCAGGAAAGCTGCAGTCCCAGCTTCG___GACAACAGTAGTAGCAGCAGCTGCCTTCTTGGACGCCTTTCAGAAAGTGGCTGACATGGCCACCAACACACGTG|GCCTGATCTTTTGGCCAGAAGGAGATTAAAAAGATGCCCCTCAAGATGGCTGTGCCTGTCAGCTGCATGGAGCTTCGTTCAAGTATTTTCTGAG(CCTGATGGATTTACAGTGATCTTCAGTGGTCTGGGGAATAACGCTGGTGGAACCATGCACTGGAATGACACACGCCCGGCACATTTCAGGATACTAAAAGTGGTTTTAAGGGAGGCTGTGGCTGAATGCCTCATGGATTCTTACAGCTTGGATGTCCATGGGGGACGAAGGACTGCAGCTGGCTGAGAGGGTTGAGATCTCTGTTTACTTAGATCTCTGCCAACTTCCTTTGGGTCTCCCTATGGAATGTAAGACCCCGACTCTTCCTGGTGAAGCATCTGATGCACGTTCCATCCGGCGCTCAGCTGGGCTTGAG___AATCCTGTTACACCTGGGATTTAGGCACTTTCAATCTGAAAAAATACATATCCTTTCAGCACTCTGGACGGACTTGAGAACTGTCCTTACGTGACCTAAAGCTGGAGTATTTTGAGATTGGAGAATTAAG___AGCCAGTCTTGGTGCTCTGTGTTCACCTGGTTCATCTGAGGAGCTGCATCTACCCTGCCCATGCCATAGATCCTGCCCTGTTTGCTTCTCCTGTTGCTGCTAGTGGACATGAGGTAACCACAGCCTAGTTCTGTGATAAGCTCTTCACACCTGTACCCATATGGACTGTGGGAGAGTTTCTCTGATATGGACTGTGATGCGG___AAGGACAGAATAACGGGCTCCCAGATTCACAAGCCCCACCAAGAGGATCACCCCAGGAACGCTTGGAGGCTGAGGAGTTCACTGAGGCTACTGCATCTTGAGACTCAGGATGAAGACCCAGCTTGGGGCTGTCAAAG___GCCTCCAGGTGTCTGCATTCTGATCCTTGAAGAGTTCATGGACCTAAGTTAAGAACCTCTCCTCAAGAGACTGAATGCAGGCAGAGATGGCTTATTGGTTCATCACAGGTTATGTGAACTACCCACT___ATTAAAAAACGAAGTCACATGGAAGATAAATAACATGCTCAACATCACCCAGCCAGAAGTGGTGGAGACATGGCCAACATCACAGGGGACAACTCCTGAGCCTGTGCTAGGAACAGCCAGTCTTCCTGAATTCATGATAAA___GCAAGAATACTACATCAGGTGGTGGTGTATACTTCCATCCAGAGGCAAATGATATCTTCTTGTCTCTCTGTAATACACAAAACAATTTTCAACCAGAAATGTAGATGAGTGAGGATTCTGACGTACCTAGAATATTTGGATGACTGCTGCTTGAATGGATGGCCTTGAGACACCTGAAGACCCTGATGTGCCTTCTGAATCATACCACGATTCAATTACATCCATCATTTAACAACAACAACAACTCTAGAAG___GTGAAAAGGCAGATCTCATCCCTGTTACTCCAATTTGGCCAGAAGTAGAAGTTTCCTCTACTTCCAGGGTTTTCAAATCTCTCAGGCTCTCAGTGGAGATGACTCCAGTTTCCCTACTGCACAAAG___GTAAACATAAGAAAGGAAAACTTTTGTACGGTGAACTTGGGCTAAAAAGAAGAATGATGTCTCTGGAACTTTTGCTGCTTATAGGAATGAGAGCAAAATCCTGGCATGACCATGATCCTTCAATGAGCACCACTGTGTTGCTGCATTCTGTCTGGCCAATCTAGTCTATAATAGTTTTTTGTTTTGTTTTGATTTTTGTGTGTTTTTTTGTTTGTTTGTTTGTTTTGATGGAGTTTTGCTCTTATTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCTCATCCCAGGTTCAAGCGATTCTCCTGCCTCAGACTCCTAAATACCTAGGATTACAGGCACCTGCCACCATACCCAGCTAATTTTTGTATTTTTGATAGAGATGGGGTTTCACCATGTTGGCCAGGCTTGTCTGGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCATCACTTTCGGCTATAATAGTTTTTATGCATCATATTAATTCTGGGTTTTTG)$ MEAVIEKECSALGGLFQTIISDMKGSYPVWEDFINKAGKLQSQLRTTVVAAAAFLDAFQKVADMATNTR|glifwpegd* 11BR011 ENSG00000077327.16 ENSG00000286810.1 +/+ -/+ chr10:22401277 chr10:22448725 CDS/splice-site intron deletion/read-through/5'-5' 12 7 1 527 25 medium out-of-frame . Armadillo/beta-catenin-like_repeat(100%)| . . ENSG00000077327.16 ENSG00000286810.1 ENST00000376603.6 . downstream upstream duplicates(1),mismappers(1) ^(AAGACGGCCGCGTTCCGGTTCCGGTAGGTTGCCCGGGAGACGCGGGTACACAGAGAAGCGGCTCCCGTCGGAGGCCGAGTCGTCGCCACGATCGCCCCCTTGGTGGACTCGCAGGCCGAGCGGCTTCCCCGCAGAGCTCGAGGAGGGCAGACGGCGGCGGGGGCGCCATGAGTCAGAGGCAGGTGCTGCAAGGTAGGGCCGAGGCGGGCAGGTGCCCTAACTAGCTGGCGCCGAGGAGACCCGGGTGCGGTGGGCTCCACCGACTCTCTCTCCCGCAGTGTTCGAGCAATACCAGAAGGCCAGGACCCAGTTCGTGCAGATGGTGGCGGAGCTGGCGACTAGACCCCAAAACATCGAGACGCTGCAGAACGCGG___GTGTAATGTCTTTGCTGAGAACTCTTCTTCTGGACGTGGTCCCAACAATTCAACAGACTGCTGCTTTGGCTCTTGGGAGACTGGCCAATTATAATGATGACCTAGCAGAAGCTGTTGTGAAGTGCGACATTCTTCCACAGCTTGTTTATTCATTGGCAGAACAGAAT___CGCTTCTACAAGAAAGCAGCTGCCTTTGTGTTACGAGCAGTTGGTAAACATTCTCCCCAGCTAGCTCAGGCAATAGTCGATTGTGGAGCACTGGATACGCTGGTCATATGCTTGGAAGATTTTGACCCTGGAGTCAAGGAGGCTGCAGCCTGGGCACTTAGATATATTGCAAGACATAATGCAG___AACTGTCACAAGCTGTGGTGGATGCAGGAGCTGTTCCTCTTTTAGTACTCTGTATCCAGGAGCCAGAAATTGCTTTGAAAAGGATTGCTGCTTCGGCCCTCAGTGATATTGCAAAGCATTCTCCAGAGTTAGCACAGACAGTAGTGGATGCAGGAGCTGTTGCTCATTTAGCCCAGATGATCCTGAACCCTGATGCTAAATTGAAG___CATCAGATCCTTTCAGCTCTCAGTCAGGTTTCAAAACATTCCGTGGATCTGGCAGAAATGGTTGTTGAAGCAGAGATTTTTCCAGTTGTACTTACCTGTCTGAAGGACAAGGATGAATACGTGAAGAAAAATGCTTCTACTTTAATTAGAGAGATTGCAAAACATACACCCGAG___CTTTCACAGCTGGTAGTTAACGCAGGAGGGGTTGCTGCCGTGATTGACTGCATTGGGTCCTGCAAAGGGAACACACGGCTGCCTGGCATCATGATGCTTGGTTATGTAGCAGCTCATTCTGAGAACCTAGCAATGGCAGTCATCATTTCTAAG___GGTGTACCCCAGTTGTCAGTCTGCTTGTCAGAAGAACCGGAAGATCATATTAAGGCTGCAGCTGCTTGGGCCTTAGGACAGATTGGAAG)ACACACTCCTGAACACGCACGGGCTGTTGCAGTCACAAATACTTTGCCAGTTCTGCTTTCTTTGTACATGTCAACAGAAAGTTCTGAGGATCTCCAAGTAAAA___AGTAAAAAAGCCATAAAGAATATCCTGCAAAAATGTACCTACTTACCAGCCCTTGAACCATTTCTATATGATGCTCCTCCCAATATTCTGAAACATGTGGTTGGACAGTTCAGTAAG|AACAAGTGGAGAAACTAACAACCCGTGGAAGAAAATTCCTAGAATCCTGGGATCAAGTCAAAACACCTGATGGTTTTAGAGGACAGAATTTTTGGAGAGAAAAACACAACCAGATGACTCTCTGCACCCCTTTCCCAGGCCATGGGCAC MVAELATRPQNIETLQNAGVMSLLRTLLLDVVPTIQQTAALALGRLANYNDDLAEAVVKCDILPQLVYSLAEQNRFYKKAAAFVLRAVGKHSPQLAQAIVDCGALDTLVICLEDFDPGVKEAAAWALRYIARHNAELSQAVVDAGAVPLLVLCIQEPEIALKRIAASALSDIAKHSPELAQTVVDAGAVAHLAQMILNPDAKLKHQILSALSQVSKHSVDLAEMVVEAEIFPVVLTCLKDKDEYVKKNASTLIREIAKHTPELSQLVVNAGGVAAVIDCIGSCKGNTRLPGIMMLGYVAAHSENLAMAVIISKGVPQLSVCLSEEPEDHIKAAAAWALGQIGRHTPEHARAVAVTNTLPVLLSLYMSTESSEDLQVKSKKAIKNILQKCTYLPALEPFLYDAPPNILKHVVGQFSK|nkwrn* 11BR011 ENSG00000008838.20 ENSG00000108342.13 -/+ +/- chr17:40021590 chr17:40016420 intron intron inversion 1 5 0 4 5 medium . . . . . ENSG00000008838.20 ENSG00000108342.13 . . downstream downstream duplicates(1) TTTAGGCAGGAAGGTGGGGAGTAGCCCCATGCCCCAGCCCGGGCCTCTCCGGGCATGTTTTGGGGGAAGGAAGG|c|CCTGGAGACATGGGGGAGCCCATGGGTGTTCCTCCTCTCCTTCCCCCTCCTCATTAGCCTTATCCTTTCCTGACACTCACCAGCTGCAGGGCCTGGCTGGGGCAGCTGCTCAGGGGAGCCCAGGG . 11BR011 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 0 2 0 60 10 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGT)AAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAG(GTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 11BR011 ENSG00000135108.14 ENSG00000203585.4(25087),ENSG00000127334.11(32887) -/- ./- chr12:117155791 chr12:67615858 CDS/splice-site intergenic deletion 2 0 0 79 0 medium out-of-frame . Hemimethylated_DNA-binding_protein_YccV_like(100%),Transglutaminase-like_superfamily(100%)| . . ENSG00000135108.14 . ENST00000622495.4 . upstream downstream . ^(CAGTAGGCGGGGCCAGGCGGGGCGCCCGGGCACTCTCGCACGCGCGCGCGCGGCGGCCCCAGGTACGCGGACAAGATGGCGGCGGCAGCAGTCGACAGCGCGATGGAGGTGGTGCCGGCGCTGGCGGAGGAGGCCGCGCCGGAGGTAGCGGGCCTCAGCTGCCTCGTCAACCTGCCGGGTGAGGTGCTGGAGTACATCCTGTGCTGCGGCTCGCTGACGGCCGCCGACATCGGCCGTGTCTCCAGCACCTGCCGGCGGCTGCGCGAGCTGTGCCAGAGCAGCGGGAAGGTGTGGAAGGAGCAGTTCCGGGTGAG___GTGGCCTTCCCTTATGAAACACTACAGCCCCACCGACTACGTCAATTGGTTGGAAGAGTATAAAGTTCGGCAAAAAGCTGGGTTAGAAGCGCGGAAGATTGTAGCCTCGTTCTCAAAGAGGTTCTTTTCAGAGCAC___GTTCCTTGTAATGGCTTCAGTGACATTGAGAACCTTGAAGGACCAGAGATTTTTTTTGAGGATGAACTGGTGTGTATCCTAAATATGGAAGGAAG___AAAAGCTTTGACCTGGAAATACTACGCAAAAAAAATTCTTTACTACCTGCGGCAACAGAAGATCTTAAATAATCTTAAGGCCTTTCTTCAGCAGCCAGATGACTATGAGTCGTATCTTGAAG___GTGCTGTATATATTGACCAGTACTGCAATCCTCTCTCCGACATCAGCCTCAAAGACATCCAGGCCCAAATTGACAGCATCGTGGAGCTTGTTTGCAAAACCCTTCGGGGCATAAACAGTCGCCACCCCAGCTTGGCCTTCAAGGCAG___GTGAATCATCCATGATAATGGAAATAGAACTCCAGAGCCAGGTGCTGGATGCCATGAACTATGTCCTTTACGACCAACTGAAGTTCAAGGGGAATCGAATGGATTACTATAATGCCCTCAACTTATATATGCATCAG___GTTTTGATTCGCAGAACAGGAATCCCAATCAGCATGTCTCTGCTCTATTTGACAATTGCTCGGCAGTTGGGAGTCCCACTGGAGCCTGTCAACTTCCCAAGTCACTTCTTATTAAGGTGGTGCCAAGGCGCAGAAGG___GGCGACCCTGGACATCTTTGACTACATCTACATAGATGCTTTTGGGAAAGGCAAGCAGCTGACAGTGAAAGAATGCGAGTACTTGATCGGCCAGCACGTGACTGCAGCACTGTATGGGGTGGTCAATGTCAAGAAGGTGTTACAGAGAATGGTGGGAAACCTGTTAAGCCTGGGGAAGCG___GGAAGGCATCGACCAGTCATACCAGCTCCTGAGAGACTCGCTGGATCTCTATCTGGCAATGTACCCGGACCAGGTGCAGCTTCTCCTCCTCCAAGCCAGGCTTTACTTCCACCTGGGAATCTGGCCAGAGAAG___GTGCTTGACATCCTCCAGCACATCCAAACCCTAGACCCGGGGCAGCACGGGGCGGTGGGCTACCTGGTGCAGCACACTCTAGAGCACATTGAGCGCAAAAAGGAGGAGGTGGGCGTAGAGGTGAAGCTGCGCTCCGATGAGAAGCACAGAGATGTCTGCTACTCCATCGGGCTCATTATGAAGCATAAGAG___GTATGGCTATAACTGTGTGATCTACGGCTGGGACCCCACCTGCATGATGG)GACACGAGTGGATCCGGAACATGAACGTCCACAGCCTGCCGCACGGCCACCACCAGCCTTTCTATAACGTGCTGGTGGAGGACGGCTCCTGTCGATACGCAGCCCAAG|GTGTCCTTACAAGGAAGTGTGGAAGAGAACAGATGCTAATTTATGACTCCGGATCAATTTGCTCAAACCTGCACACAGGCATTAGAGGC MAAAAVDSAMEVVPALAEEAAPEVAGLSCLVNLPGEVLEYILCCGSLTAADIGRVSSTCRRLRELCQSSGKVWKEQFRVRWPSLMKHYSPTDYVNWLEEYKVRQKAGLEARKIVASFSKRFFSEHVPCNGFSDIENLEGPEIFFEDELVCILNMEGRKALTWKYYAKKILYYLRQQKILNNLKAFLQQPDDYESYLEGAVYIDQYCNPLSDISLKDIQAQIDSIVELVCKTLRGINSRHPSLAFKAGESSMIMEIELQSQVLDAMNYVLYDQLKFKGNRMDYYNALNLYMHQVLIRRTGIPISMSLLYLTIARQLGVPLEPVNFPSHFLLRWCQGAEGATLDIFDYIYIDAFGKGKQLTVKECEYLIGQHVTAALYGVVNVKKVLQRMVGNLLSLGKREGIDQSYQLLRDSLDLYLAMYPDQVQLLLLQARLYFHLGIWPEKVLDILQHIQTLDPGQHGAVGYLVQHTLEHIERKKEEVGVEVKLRSDEKHRDVCYSIGLIMKHKRYGYNCVIYGWDPTCMMGHEWIRNMNVHSLPHGHHQPFYNVLVEDGSCRYAAQ|gvltrkcgreqmliydsgsicsnlhtgir 11BR012 ENSG00000121957.14 ENSG00000107485.18 +/- +/+ chr1:108892374 chr10:8073899 intron CDS translocation/3'-3' 300 301 17 684 3626 high . . . . . ENSG00000121957.14 ENSG00000107485.18 . ENST00000379328.9 upstream upstream duplicates(65),mismatches(4) CCCCTCCATTAAAATTCATCCCACATACAAAGTTTCCTTTATGCTTCTGAGAGCCTATCTAGCTGTATAATCAAAGAAAATATGTTTCTAATAAACTTCAAATAGACACAGTACTACTATCCTTAACTGACGTGTTTTCATTTTTGCTAATAGAGTGAACATTTTAGCTAGAATTTCTCATTTTCTGTGCAAACTCATGTCATTTCAATTTTTCTTTTAATTTTTAACTTCTCTTCCAC|TGAGCCACATCTCGCCCTTCAGCCACTCCAGCCACATGCTGACCACGCCCACGCCGATGCACCCGCCATCCAGCCTGTCCTTTGGACCACACCACCCCTCCAGCATGGTCACCGCCATGGGTTAGAGCCCTGCTCGATGCTCACAGGGCCCCCAGCGAGAGTCCCTGCAGTCCCTTTCGACTTGCATTTTTGCAGGAGCAGTATCATGAAGCCTAAACGCGATGGATATATGTTTTTGAAGGCAGAAAGCAAAATTATGTTTGCCACTTTGCAAAGGAGCTCACTGTGGTGTCTGTGTTCCAACCACTGAATCTGGACCCCATCTGTGAATAAGCC(ATTCTGACTCATATCCCCTATTTAACAGGGTCTCTAGTGCTGTGAAAAAAAAAATGCTGAACATTGCATATAACTTATATTGTAAGAAATACTGTACAATGACTTTATTGCATCTGGGTAGCTGTAAGGCATGAAGGATGCCAAGAAGTTTAAGGAATATGGGAGAAATAGTGTGGAAATTAAGAAGAAACTAGGTCTGATATTCAAATGGACAAACTGCCAGTTTTGTTTCCTTTCACTGGCCACAGTTGTTTGATGCATTAAAAGAAAATAAAAAAAAGAAAAAAGAGAAAAGAAAAAAAAAGAAAAAAGTTGTAGGCGAATCATTTGTTCAAAGCTGTTGGCCTCTGCAAAGGAAATACCAGTTCTGGGCAATCAGTGTTACCGTTCACCAGTTGCCGTTGAGGGTTTCAGAGAGCCTTTTTCTAGGCCTACATGCTTTGTGAACAAGTCCCTGTAATTGTTGTTTGTATGTATAATTCAAAGCACCAAAATAAGAAAAGATGTAGATTTATTTCATCATATTATACAGACCGAACTGTTGTATAAATTTATTTACTGCTAGTCTTAAGAACTGCTTTCTTTCGTTTGTTTGTTTCAATATTTTCCTTCTCTCTCAATTTTTGGTTGAATAAACTAGATTACATTCAGTTGGCCTAAGGTGGTTGTGCTCGGAGGGTTTCTTGTTTCTTTTCCATTTTGTTTTTGGATGATATTTATTAAATAGCTTCTAAGAGTCCGGCGGCATCTGTCTTGTCCCTATTCCTGCAGCCTGTGCTGAGGGTAGCAGTGTATGAGCTACCAGCGTGCATGTCAGCGACCCTGGCCCGACAGGCCACGTCCTGCAATCGGCCCGGCTGCCTCTTCGCCCTGTCGTGTTCTGTGTTAGTGATCACTGCCTTTAATACAGTCTGTTGGAATAATATTATAAGCATAATAATAAAGTGAAAATATTTTAAAACTA)$ . 11BR012 ENSG00000107485.18 ENSG00000121957.14 +/+ +/- chr10:8073864 chr1:108892612 CDS intron translocation/5'-5' 300 301 5 3563 2120 high out-of-frame . GATA_zinc_finger(100%)| . . ENSG00000107485.18 ENSG00000121957.14 ENST00000379328.9 . downstream downstream duplicates(108),low_entropy(1),mismatches(13) ^(GAACACTGAGCTGCCTGGCGCCGTCTTGATACTTTCAGAAAGAATGCATTCCCTGTAAAAAAAAAAAAAAAATACTGAGAGAGGGAGAGAGAGAGAGAAGAAGAGAGAGAGACGGAGGGAGAGCGAGACAGAGCGAGCAACGCAATCTGACCGAGCAGGTCGTACGCCGCCGCCTCCTCCTCCTCTCTGCTCTTCGCTACCCAG___GTGACCCGAGGAGGGACTCCGCCTCCGAGCGGCTGAGGACCCCGGTGCAGAGGAGCCTGGCTCGCAGAATTGCAGAGTCGTCGCCCCTTTTTACAACCTGGTCCCGTTTTATTCTGCCGTACCCAGTTTTTGGATTTTTGTCTTCCCCTTCTTCTCTTTGCTAAACGACCCCTCCAAGATAATTTTTAAAAAACCTTCTCCTTTGCTCACCTTTGCTTCCCAGCCTTCCCATCCCCCCACCGAAAGCAAATCATTCAACGACCCCCGACCCTCCGACGGCAGGAGCCCCCCGACCTCCCAGGCGGACCGCCCTCCCTCCCCGCGCGCGGGTTCCGGGCCCGGCGAGAGGGCGCGAGCACAGCCGAGGCCATGGAGGTGACGGCGGACCAGCCGCGCTGGGTGAGCCACCACCACCCCGCCGTGCTCAACGGGCAGCACCCGGACACGCACCACCCGGGCCTCAGCCACTCCTACATGGACGCGGCGCAGTACCCGCTGCCGGAGGAGGTGGATGTGCTTTTTAACATCGACGGTCAAGGCAACCACGTCCCGCCCTACTACGGAAACTCGGTCAGGGCCACGGTGCAGAGGTACCCTCCGACCCACCACG___GGAGCCAGGTGTGCCGCCCGCCTCTGCTTCATGGATCCCTACCCTGGCTGGACGGCGGCAAAGCCCTGGGCAGCCACCACACCGCCTCCCCCTGGAATCTCAGCCCCTTCTCCAAGACGTCCATCCACCACGGCTCCCCGGGGCCCCTCTCCGTCTACCCCCCGGCCTCGTCCTCCTCCTTGTCGGGGGGCCACGCCAGCCCGCACCTCTTCACCTTCCCGCCCACCCCGCCGAAGGACGTCTCCCCGGACCCATCGCTGTCCACCCCAGGCTCGGCCGGCTCGGCCCGGCAGGACGAGAAAGAGTGCCTCAAGTACCAGGTGCCCCTGCCCGACAGCATGAAGCTGGAGTCGTCCCACTCCCGTGGCAGCATGACCGCCCTGGGTGGAGCCTCCTCGTCGACCCACCACCCCATCACCACCTACCCGCCCTACGTGCCCGAGTACAGCTCCGGACTCTTCCCCCCCAGCAGCCTGCTGGGCGGCTCCCCCACCGGCTTCGGATGCAAGTCCAGGCCCAAGGCCCGGTCCAGCACAG___AAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTG___TCTGCAGCCAGGAGAGCAGGGACGTCCTGTGCGAACTGTCAGACCACCACAACCACACTCTGGAGGAGGAATGCCAATGGGGACCCTGTCTGCAATGCCTGTGGGCTCTACTACAAGCTTCACAAT___)ATTAACAGACCCCTGACTATGAAGAAGGAAGGCATCCAGACCAGAAACCGAAAAATGTCTAGCAAATCCAAAAAGTGCAAAAAAGTGCATGACTCACTGGAGGACTTCCCCAAGAACAGCTCGTTT|CCCCTCCATTAAAATTCATCCCACATACAAAGTTTCCTTTATGCTTCTGAGAGCCTATCTAGCTGTATAATCAAAGAAAATATGTTTCTAATAAACTTCAAATAGACACAGTACTACTATCCTTAACTGACGTGTTTTCATTTTTGCTAATAGAGTGAACATTTTAGCTAGAATTTCTCATTTTCTGTGCAAACTCATGTCATTTCAATTTTTCTTTTAATTTTTAACTTCTCTTCCAC MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHHGSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKDVSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLLGGSPTGFGCKSRPKARSSTEGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCANCQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKCKKVHDSLEDFPKNSSF|plh* 11BR012 ENSG00000083168.11 ENSG00000157110.16 -/- +/+ chr8:42048378 chr8:30504286 CDS/splice-site CDS/splice-site inversion 50 42 0 220 404 high in-frame . |RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%) . . ENSG00000083168.11 ENSG00000157110.16 ENST00000406337.6 ENST00000320203.8 upstream upstream duplicates(6),mismatches(1) ^(GGAGCTCACTGTCTCCAAGATGGCGGCCGTGTCAGTTTGGGGCATCTCCGCGGTCCGGCCCGGGGCCCCGGGATCTCGGCTGTCCTTCCTCCCG___GATTCTTTCTACTAATCCAGATACTTGTTGAAGTGCTGACTAGTTTCTTGGGGAAAGATGTCAAGGAAGAGTTGAAATTCCTAGACTG___GCATAAGATGCACATTTTTCTGCTCTGGAGCCGGGAATGAAATATTCTTGAGTTCTTACAACTTTATGACGAGACCCATGTGTGGTGCTATTGAGAAATTCATTGGGAAGTTGGAAGACATTTCAATCAACAGGTTGTTTTGGTTTCTATAGTACAATTGGGGTGGCATTCTGTTTTGTGAAAGGAGGAAGGACTTAGGCCAGAAAACTCATATGCTATGGTTAACTGGTTCCCAGCCTCCGAGAATCTTGTTTTCCATGGTGTAAAACTTACTCAGCATCAGGATAAGGGATAACGACTCTATGGATATACAGAATCCTTCACCATGGTAAAACTCGCAAACCCGCTTTATACTGAGTGGATTTTGGAGGCCATCAAAAAAGTGAAAAAGCAGAAACAGCGTCCTTCAGAAGAAAGGATATGCAATGCTGTGTCTTCATCCCATGGCTTGGATCGTAAAACTGTTTTAGAACAATTGGAGTTGAGTGTTAAAGATGGAACAATTTTAAAAGTCTCAAATAAAGGACTCAATTCCTATAAAGATCCTGATAATCCTGGGCGAATAGCACTTCCTAAGCCTCGGAACCATGGAAAATT)GGATAATAAACAAAATGTGGATTGGAATAAACTGATAAAGCGGGCAGTTGAGGGCTTGGCAGAGTCTGGTGGCTCAACTTTGAAAAGCATTGAACGTTTTTTGAAAGGTCAGAAGGATGTGTCTGCATTATTCGGAGGCAGTGCTGCCTCTGGCTTTCACCAGCAGTTACGATTGGCTATCAAACGTGCCATTGGCCACGGCAGACTCCTTAAAGATGGACCTCTTTATCGGCTCAACACTAAAGCAACCAACGTGGATGGGAAAGAGAGTTGTGAGTCTCTTTCCTGTTTACCTCCAGTGTCCCTTCTTCCACATGAAAAGGATAAG|GGCATCCGCTTCGATCCTGAAATTCCGCAAACACTACGACTAGAGTTTGCTAAGGCAAACACGAAGATGGCCAAGAACAAACTCGTAGGGACTCCAAACCCCAGTACTCCTCTGCCCAACACTGTACCTCAGTTCATTGCCAGAGAGCCAT(___ATGAGCTCACAGTGCCTGCACTTTACCCCAGTAGCCCTGAAGTGTGGGCCCCGTACCCTCTGTACCCAGCGGAGTTAGCGCCTGCTCTACCTCCTCCTGCTTTCACCTATCCCGCTTCACTGCATGCCCAG___ATGCGCTGGCTCCCTCCCTCCGAGGCTACTTCTCAGGGCTGGAAGTCCCGTCAGTTCTGCTGAATACTAT___ACCCTTCAGCAATGGCTACTAGAAGGACGAACAATTGCCCTCCTTTGGAAGTACGGCTAATAGAAGCCCTAGATCCGAATAAGATCCGAATAAGAATATGTAATGGACCAGGCGCAGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGATGCCAGAAGTTTGAGACCAGCCCAGCCAACATG___GTCCCAGGTGTGTGATGGCGGCTGCAATCTGTCTTGTGGGTATTAATGCAATCTTCAGTGGTGGCTACTGTTCTCTAGCTGTTCTACAAAACTGGAGCATGCTG___GCTTGAAAAACCCTTGCCCAGTTTTGATCCCTTCAAGACTTTGTCACAGCCTCTATCACACATCTGTTTTTCTCGAAGAAAAAAATATAATTAATAAAAATGTTTTACTCTTTTACACTGTATAATTGTAAGAAATAGCGTATTATTTGTGAATGCATGGTCTGAAATTTCTGTACAGTTTGGAGATATTTTCAAACGAAACGTAAGAGAAGTCAACAATAAAACCAAGAAAAGTGAGTATTTTTATACCAAACATTTTAAGTATGCTGGGATGGACGATCTTACACTGGTTTGGATCACAGTTTTTGTTCTTGACTTTTGAATGCTTGTAATTAAAAATATCTATTTTTTTCCTCTGAAGTAAGTTGCATGTTTGAGGCATGTTTCCAAATATTATCAAAATATCCTGAATTGTATTGTGAATATATAGAAATCTGTGCCTGGCCGGAGTCCAGGGTAAATTAGTAGCATGGTGTTAGATGTTAGAAACAGAACTGTTATTTGCAGTGTTAGGTCTAGGATCCCAGTTCTAGTAGGACAGCCCTGCAAGACAATCAACCAGAAGCCTCCAGGAGCTTCTACCTATGGCTTATTCACAACTGGGCAAGAAAACATCATTGGTAAGAACTGCTGAGTGTGCCCTTAGAAAGCCCTAGTAGCTCCAGCTGTGACTATATCAACTGTGTGCCAAGTGTGACTTTGTACAGTTTTATGTTTCCACTCTCCTGTATGTGTAGCCACTCGATGCCTAACCTACCTTCCACAAGCCAGCCCCGCATCCCTGCTCCCGCAGTGTAAGTGCAGAGCCTGCCTCACTGGTAAGGGAAAACCTTGGCTTGGGAGGCCAGCCCTGGCCCTTGAAGGGGTTGGCTGTGCCCAGCCCACCTGGCTGCAGTGGGCAGCTCATGTCTGTATCTCCAAAGTGATGTTTGTTTGCAAAACACCGGCTGAACTGAGCTGGTGTTGCCAACTCTTGGCAGCACTGGGCCAAACCGACCACATACCATGAGCTCCCAAATGGCGTGTGCTCACTGTGAGACGTCCTGCCACACCCCACAGGAGACGGAGGCAGTGGGCATTTGGAACCAATTCTATTCAGACTTCGTCAAAGCCAAAGTCAGTCTGGTGTTGTCAGTTGACACATCTCCAGAGTTCATGACAGCTCAACCTCTCCCCTTGTACAGAAGCCATTTTTGTAAAACCACACTGACCTAAATTCAGCTGCCAAACACAGTCTTTCCTATTGATCCGCTCGGCTTATGTTGAAAATTTCAATGTCATGATTACCTGGTTGGTTTGGGTTTTTGTTTTGTTATTTTCCATTAGAAATATAAAGATGTCAAGAAGCTTTTAAAGGTCAACACAAAAAACCAAGGCCAGGAGTGAGGGGCTCTTTCTTACCGTAAATAAGGGGAAAAGGCAGTTAGCTCAAGGACTTGTGACGGATCCACTTTGGTGTTCAAGGACCTGCTTATGCCCTCAGTGCCAATCGGCTCTTGGTGAGATGACTGTACTCCTAAGGAAAATAGCCACTTCTGCAGTCTATTATGCTTTTATAACTGTTTAAAGGTACTTTTCTATTGTCATTTTTAAAAAATAAAGTGCTTATTCCAGCTGTCA)$ MVKLANPLYTEWILEAIKKVKKQKQRPSEERICNAVSSSHGLDRKTVLEQLELSVKDGTILKVSNKGLNSYKDPDNPGRIALPKPRNHGKLDNKQNVDWNKLIKRAVEGLAESGGSTLKSIERFLKGQKDVSALFGGSAASGFHQQLRLAIKRAIGHGRLLKDGPLYRLNTKATNVDGKESCESLSCLPPVSLLPHEKDK|GIRFDPEIPQTLRLEFAKANTKMAKNKLVGTPNPSTPLPNTVPQFIAREPYELTVPALYPSSPEVWAPYPLYPAELAPALPPPAFTYPASLHAQMRWLPPSEATSQGWKSRQFC* 11BR012 ENSG00000157110.16 ENSG00000270865.1(36320),ENSG00000187840.5(10841) +/+ ./- chr8:30504436 chr8:38019693 CDS/splice-site intergenic inversion 41 49 1 368 100 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000157110.16 . ENST00000320203.8 . downstream downstream duplicates(2) ^(AAAGGGAGCTGCTTCCATCCCGGACTTCCCAGAGCCTGCCTGGAGCGCGTACTCAGCGGCTCTCGGGTCCCAGCGTCCCAGCCGCGGCCCGCGCTCCTCCGCCCCGCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCTCTAGGCACCCCCGTCCCCTCCTTCCAGCGGCTGCAGCCCCCAGCCCCAACTCTCCGCGCTTACTCCTGGGACGCGCGTCCTCGCCCCATCCTTTGCTTCCTTCCTTCCTTCCTTCTTCCTTCCTCCCCTGGCTCCCGCCCTCCCTCTCCAGGTCGCCCTCCCGGGGCCCGATTGTCTCGGTGCCCCGCTCCCGGCCCGCGCCCTGCCCCGTCTCTCCCTTGCACTTCCTGAGTCGCCCGCCGCCGCCGTCGCAGACTCGCCGCGGGAGCCCCAGCCCAACCCGAGCCCGACAGCCACTGCCCCGGCTCCAGCTCCAGCCCCACAGCCCGCGGCGCCCGCCCGAGGGAGCCCCGGCGCCCGGGGAAGGCTCCAGTGGGCTAGCGCGCCCTCGCCCAGCCCCGCGCCCCAGCCCTGCCCGGCCCGGCGAGGAAGGACCGGGAAGATGAACAACGGCGGCAAAGCCGAGAAGGAGAACACCCCGAGCGAGGCCAACCTTCAGGAGGAGGAG___GTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAG___GGCTATGA)GGGTTCTCTTATAAAGCTCACATCTAAACAG___CCTGTAGGTTTTGTCAGTTTTGACAGTCGCTCAGAAGCAGAGGCTGCAAAGAATGCTTTGAAT___GGCATCCGCTTCGATCCTGAAATTCCGCAAACACTACGACTAGAGTTTGCTAAGGCAAACACGAAGATGGCCAAGAACAAACTCGTAGGGACTCCAAACCCCAGTACTCCTCTGCCCAACACTGTACCTCAGTTCATTGCCAGAGAGCCAT|ATAGATTCATGGTATCCCAGCGTTGGAGCTCAGAAACCAATATGGCACTTTGACGTGCTGAACTGAAGAAGCCTCAAGGTCTTTCTGACTTCCTGGGCCCCCTATCTCTCAATCCTCTGTCTCTCCCAAAGCACAGGATGAAGTAGTTCTCTGAAGTTTCCTTATCTCCCTAAAGTCCACATCTGCCAAAGAAGAAAACAATCACCTCTGG...___GGTCTCgCTTTGTCACCCAGGCTGGAGTGCAGTgGCACAATTACgGCTCgCTGCAACCTTGACTTCCCAGGCTCAAGCGATCCTCCCACATCgACCTCCTGAATATCTGGGACTATGGGTGTGCACCACCATGCCTGGC MNNGGKAEKENTPSEANLQEEEVRTLFVSGLPLDIKPRELYLLFRPFKGYEGSLIKLTSKQPVGFVSFDSRSEAEAAKNALNGIRFDPEIPQTLRLEFAKANTKMAKNKLVGTPNPSTPLPNTVPQFIAREP|yrfmvsqrwssetnmal* 11BR012 ENSG00000287226.1 ENSG00000280140.1 -/- -/- chr4:157987706 chr4:158111913 exon/splice-site exon duplication 47 26 2 212 87 high . . . . . ENSG00000287226.1 ENSG00000280140.1 ENST00000660468.1 ENST00000624394.1 upstream downstream duplicates(1) ^(AAGAAGAAACACCGAAACAAATTTGTACAAGTGCAGCATTTGTGTAGCATTTCTTTTGATGTGTGTTTTGTGCAGATGAAACAAACATTAAAATTTTCAGAGATTTCTTTTATAACAGTAAATGTGTCCTATTTGTTTCCAGCTCTTTGACATTGGACAAATTTTTATTGTTGCTTGATCATCAGG___GTGTCTGCGTTTGATCTCGTGAAAGTTTCAGAATGGGCCTGGCGCGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGACGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAGGTCGTGCCATTGCACTCCAGTCCAGCCTGGACAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAGTTTCAGAATGATGGCCAAAACAACATTTCTCATTTAGCATAGTAACACAGATCTTCGTGGGAG___AAGAAAGGCCATGTGAAGACACGGTGAGAAGACGGCCATCTGAAA)GTCAGGAGGAGTATCCTCTTGAGAACTGAATCAAGCTAGTACTTTGATCTTGGACTTCCAGCCTCCAGAACT___GCAGTGTTGGTCTGCAAGCTTCAAGAGCCAGTGACCCTGACTGCCAAGTGATTTGCCGAAGGGAATTATG|CTCTATCAGAAAAATGAGAAAATGGAAAGATGAAGAAGCTAATAATTTATTCAAGATCAAACTGCCAAGAAGTGACCAAACTACCTTGGATTCAGATCCAAATCGGCTGGACTTCCCCACTTACGCTTATGACCGCTGAGCCACGCCACCTTCCCAAGTTCATCCAGTGCTCTCTCAACTCTGTCAAACTGGCTTCCCTGAAATAATTTGTATTTCTTATCCACAGTGGGATAAATTAGAGAAACCATAGCCAGGTGTGTAAGTGGAAAGATTGACTAAT(AGACATCTGATAGAGCAAACAGCCTAAGTCTGCAATATCTCTCTCAGGTCTGTCTTTATTCAAGTGTATGAGATGGTGGTAATCATCAATGTTCCCCAGTATCAGTACCTAATATTTAAAAGGGTTATCACGTTGGGCCATACGTTTGGGCTTGATGATTCACAGGAGGTGAAGAGAACTTCAACTCTCAATTGCAATCCCAATGCATTTGTCATGATGCTGAGTTACACAGAACTAGGGCACATGTAAAATAAATACCTCTTTTTGTTCCAA)$ . 11BR012 ENSG00000104365.15 ENSG00000076554.15 +/+ -/- chr8:42272205 chr8:80064593 CDS/splice-site CDS/splice-site inversion 20 48 1 711 3371 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000104365.15 ENSG00000076554.15 ENST00000629753.1 ENST00000379096.9 downstream downstream duplicates(2) ^(GTGACGTCAGAGCAGGAAGTGTTTGAGGAAGTCGCGCCGCGCTGCCCGCGTTAAGATTCCCGCATTTTAATGTTTTCAGGGGGGTGTCATAGCCCCGGGTTTGGCCGCCCCAG)CCCCGCCTTCCCCGCCCCGGGGAGCCCGCCCCCTGCCCCGCGTCCCTGCCGACAG___AGTTAGCACGACATCAGTATGAGCTGGTCACCTTCCCTGACAACGCAGACATGTGGGGCCTGGGAAATGAAAGAGCGCCTTGGGACAGGGGGATTTGGAAATGTCATCCGATGGCACAATCAG|GTCTGCTGAGAACAGACCCAGTCCCTGAGGAAGGAGAAGATGTTGCTGCCACGATCAGTGCCACAGAGACCCTCTCGGAAGAGGAGCAGGAAGAGCTAAGAAGAGAACTTGCAAAG___GTAGAAGAAGAAATCCAGACTCTGTCTCAAGTGTTAGCAGCAAAAGAGAAGCATCTAGCAGAGATCAAGCGGAAACTTGGAATCAATTCTCTACAGGAACTAAAACAGAACATTGCCAAAGGGTGGCAAGACGTGACAGCAACATCTGC___TTACAAGAAGACATCTGAAACCTTATCCCAGGCTGGACAGAAGGCCTCAGCTGCTTTTTCGTCTGTTGGCTCAGTCATCACCAAAAAGCTGGAAGATGTAAA___AAACTCC(CCAACTTTTAAATCATTTGAAGAAAAGGTCGAAAACTTAAAG___TCTAAAGTAGGGGGAACCAAGCCTGCTGGTGGTGATTTTGGAGAAGTCTTGAATTCGGCTGCAAATGCTAGTGCCACCACCACGGAGCCTCTTCCAGAAAAGACACAGGAGAGCCTGTGAGATTCCTACCTTTGTTCTGCTACCCACTGCCAGATGCTGCAAGCGAGGTCCAAGCACATCTTGTCAACATGCATTGCCATGAATTTCTACCAGATGTGCTTTTATTTAGCTTTACATATTCCTTTGACCAAATAGTTTGTGGGTTAAACAAAATGAAAATATCTTCACCTCTATTCTTGGGAAACACCCTTTAGTGTACATTTATGTTCCTTTATTTAGGAAACACCATTATAAAAACACTTATAGTAAATGGGGACATTCACTATAATGATCTAAGAAGCTACAGATTGTCATAGTTGTTTTCCTGCTTTACAAAATTGCTCCAGATCTGGAATGCCAGTTTGACCTTTGTCTTCTATAATATTTCCTTTTTTTCCCCTCTTTGAATCTCTGTATATTTGATTCTTAACTAAAATTGTTCTCTTAAATATTCTGAATCCTGGTAATTAAAAGTTTGGGTGTATTTTCTTTACCTCCAAGGAAAGAACTACTAGCTACAAAAAATATTTTGGAATAAGCATTGTTTTGGTATAAGGTACATATTTTGGTTGAAGACACCAGACTGAAGTAAACAGCTGTGCATCCAATTTATTATAGTTTTGTAAGTAACAATATGTAATCAAACTTCTAGGTGACTTGAGAGTGGAACCTCCTATATCATTATTTAGCACCGTTTGTGACAGTAACCATTTCAGTGTATTGTTTATTATACCACTTATATCAACTTATTTTTCACCAGGTTAAAATTTTAATTTCTACAAAATAACATTCTGAATCAAGCACACTGTATGTTCAGTAGGTTGAACTATGAACACTGTCATCAATGTTCAGTTCAAAAGCCTGAAAGTTTAGATCTAGAAGCTGGTAAAAATGACAATATCAATCACATTAGGGGAACCATTGTTGTCTTCACTTAATCCATTTAGCACTATTTAAAATAAGCACACCAAGTTATATGACTAATATAACTTGAAAATTTTTTATACTGAGGGGTTGGTGATAACTCTTGAGGATGTAATGCATTAATAAAAATCAACTCATCATTTTCTACTTGTTTTCAATGTGTTGGAAACTGTAAAATGATACTGTAGAACCTGTCTCCTACTTTGAAAACTGAATGTCAGGGCTGAGTGAATCAAAGTGTCTAGACATATTTGCATAGAGGCCAAGGTATTCTATTCTAATAACTGCTTACTCAACACTACCACCTTTTCCTTATACTGTATATGATTATGGCCTACAATGTTGTATTTGTTATTTATTAAATTGTGATTGTTTTATTATTGTTTATGCCAAATGTTAACTGCCAAGCTTGGAGTGACCTAAAGCATTTTTTAAAAGCATGGCTAGATTTACTTCAGTATAAATTATCTTATGAAAACCAAATTTTAAAAGCCACAGGTGTTGATTGTTATAAAATAACATGCTGCCATTCTTGATTGCTAGAGTTTTTGTTAGTACTTTGGATGCAATTAAAACTATGTGCTATCACATGTGAAAAGCTTAATAAATTCCATCTATCAGTAGTATAGGTCTCAATATTTATTATGAGACCAGTGGTCTGGAAACAGCTTGTTGTACCGAATCAACTGGAGTCTATGCTTAAAAAAAAAAAATTTTTTTTTAACCATCCTTAAATTATTGCTTAATGGTATCATATTAACATATTCTAAATAAGGGCTTTAAGGCACAGGCTGTTGAAGCATTTTCTCAGAGGAGTGGATCTGTAGAAGTCTGTCTTTCTATAGAAATATTGTGCTTACTCAAGTGTTAAATTATTTTTTCTATGAACTAGTCTACTTCTTAAAATTCAAACATATTCTTTTGATCACATTGTTTCTTGAGCATCCTGCCCTGCTACTAACTTTTCAACAAGGCAAAATGGAGTAAAGTGGCAATTTCTTTAGATGAGTGAAATACCCTCAAGTCTCTTTTCTGCCCAAAAAGGGAAAAGTGATAGAAATGGGGGTGGCAAGTGGGGTGAGTGGATGAAGGTGGGTATTGGGGGTGGCTGTGAAAGAAAATAATGGAGAATCACTTTTCTAGACATCTACCTATACTTAATCTAAGAAACAAAGTAATCTACTGTAAAGTACTCTGCCCCTTGAAAGAAGTATTAAAAAGAGTGAGGATGGATTTAGAAAAAAACATGAATTTAGAAATATTCAAAATGGTTTTTGTGGCAGATTCAATATTATGAATTCACAGATATTTAAAGAATGAGAAACATAGTAATTAGTAGAAATGCCAGAAACAGTTCCTGGTTCCTCTTGTGTTTGACACTAAGAAAATAGCAAGAGTGTGAAATCTCAGATACTTATGAAATCTCACAGATGTAAGGACTCAAGTGTAGAAGAAAATATCCCCTTCTTACAAAAAGAAATGTCAATTTATGGAGTTTGTGGGAAATAGGGCAAGAATTCTTATGCTTATGAGAGCCAAGTAGTCAGTGGAAGAGAGTAGAGCTCAAAACTGGATTATCACCTTAGCAACTTAGAATAGTTTGAAATAGAAAAAAAGTATTTAATTTGGATCTGGATCTGTTAAGATATGCACAGTCTATTTTTTGTATAGTATTGGAAAATAAAAATGCTATAATTTGGGTATGGGTTCTTTTGTATACATTACCTGCCCATTGAGGAAAGGGGCAAGTCCATTATGCAACTTCTCTCCAAACCCTTCATATTCTGGATATGATACTTAAAGAGCCATGAGCAGCTACATTCTGCCTATCAGAAGGCATTTATTAAATGACTGCTTGCTGAAGATGTGTCCAAAGAGATCCTACATTAAGGTCATTTGTCAGAATGATGTTTGTGTTTGTTTAGAGTTGGCTGACCTCCAACTCCTGGGGTCAAGGAATCCTACTGCCTTAGCTTCCCAAATAGCTAGGACTATAGGCATGCACCCGGCCATGTGTTTTATTTATAGCTCTTAAAGCCCAGATGAAGAAATCACATTTTTGCCCATAGTGAAGAAACATTTGGCCATTGATTAGTCCTTATTTTCAGTGACTGTCCTGTTTTCATTAGATTAGAGAGACCCTGTGTGGGCCACAGTTAATATAAACCATTATCACTTTTAAGTAAACCTGCACATCTTAGATTTCATAATTTCCTTATTGTTCTGACTCAAAATGAACTAAGAGCTTTTCACTTTTTGTTTGTAAGTTCTCAGAGAGTCGGGTCTGCAAGTGCTTTTGCCTGCCAGGATTTTGTACTCAAATAAATGCTATTTGGCAACTAAAATTCTTGCCAGCTCTCATGTAATTTTGATGTTACTGAGGTTGGTTGGTAGTTTATTTTATTAATTTTGTGGTTCTTCTATCATATAGAAAAAGCCAAATACAGTTTTGTTTGAATATTTGTAAA)$ MSWSPSLTTQTCGAWEMKERLGTGGFGNVIRWHNQ|vc* 11BR012 ENSG00000104365.15 ENSG00000276418.5 +/+ -/- chr8:42272205 chr8:80064593 CDS/splice-site CDS/splice-site inversion 20 48 1 711 3371 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000104365.15 ENSG00000276418.5 ENST00000629753.1 ENST00000522938.5 downstream downstream duplicates(2) ^(GTGACGTCAGAGCAGGAAGTGTTTGAGGAAGTCGCGCCGCGCTGCCCGCGTTAAGATTCCCGCATTTTAATGTTTTCAGGGGGGTGTCATAGCCCCGGGTTTGGCCGCCCCAG)CCCCGCCTTCCCCGCCCCGGGGAGCCCGCCCCCTGCCCCGCGTCCCTGCCGACAG___AGTTAGCACGACATCAGTATGAGCTGGTCACCTTCCCTGACAACGCAGACATGTGGGGCCTGGGAAATGAAAGAGCGCCTTGGGACAGGGGGATTTGGAAATGTCATCCGATGGCACAATCAG|GTCTGCTGAGAACAGACCCAGTCCCTGAGGAAGGAGAAGATGTTGCTGCCACGATCAGTGCCACAGAGACCCTCTCGGAAGAGGAGCAGGAAGAGCTAAGAAGAGAACTTGCAAAG___GTAGAAGAAGAAATCCAGACTCTGTCTCAAGTGTTAGCAGCAAAAGAGAAGCATCTAGCAGAGATCAAGCGGAAACTTGGAATCAATTCTCTACAGGAACTAAAACAGAACATTGCCAAAGGGTGGCAAGACGTGACAGCAACATCTGC___TTACAAGAAGACATCTGAAACCTTATCCCAGGCTGGACAGAAGGCCTCAGCTGCTTTTTCGTCTGTTGGCTCAGTCATCACCAAAAAGCTGGAAGATGTAAA___AAACTCC(CCAACTTTTAAATCATTTGAAGAAAAGGTCGAAAACTTAAAG___GGTTCTCCAAAAAATGTGGAATCCTTTGCATCTATGCTGAGACATTCTCCTCTTACACAGATGGGACCTGCAAAGGATAAACTGGTCATTGGACGGATCTTTCATATTGTGGAGAATGATCTGTACATAGATTTTGGTGGAAAGTTTCATTGTGTATGTAGAAGACCAGAAGTGGATGGAGA___GAGTCCCATTTCGTGGTATGCTGTTTGGAGGAGATTTTCACAAGTGATGATAACCTGTTTTTCTTCCAACTCTGACTTTGGAAAACATCGTAAAAGATAAAGAAGTTGTAATACAACATGGATGAACCCTGAAAACATTATGCCAAATGAAAGAAGCCATTCACAAAAGATCATATATT___GAAATACCAGAAAGGAACCAGGGTCCGGTTGCGGCTATTAGATCTTGAACTTACGTCTAGGTTCCTGGGAGCAACAACAGATACAACTGTACTAGAGGCTAATGCAGTTCTCTTGGGAATCCAGGAGAGTAAAGACTCAAGATCGAAAGAAGAACATCATGAAAAATAAATGAACTTTGCTTAGTGGATTGACTCCTTTGCTGAAGTCAGTTATTCATCAAGAATGCAATTAGACTAATTGTGAATAAATGATTGAATGAAGATATAATAAATAAAAGCTATAATTATA)$ MSWSPSLTTQTCGAWEMKERLGTGGFGNVIRWHNQ|vc* 11BR012 ENSG00000108443.14 ENSG00000264451.1 +/+ +/+ chr17:59893325 chr17:48465447 CDS/splice-site exon/splice-site duplication 17 14 2 173 138 high out-of-frame . . . . ENSG00000108443.14 ENSG00000264451.1 ENST00000225577.9 ENST00000579972.1 downstream upstream . ^(GCACTGAGCCTAAGCAGCCGGT)GATGGCGGCAGCGGCTGTGGTGGCTGCGGCGGGTCCGGGCCCATGAGGCGACGAAGGAGGCGGGACGGCTTTTACCCAGCCCCGGACTTCCGAGACAGGGAAGCTGAGGACATGGCAGGAGTGTTTGACATAGACCTGGACCAGCCAGAGGACGCGGGCTCTGAGGATGAGCTGGAGGAGGGG|AAAATTGTCTACATTCCTGCCTGGGCATGGTGGCTCATGCCTGTAATCCAGCACTTTGGGAGGCCGAGGTGGGCGAGTCACTTGAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGCCTCTACTAAAAATACAAAAAATTAGCTGAGCATGGTGGTGCATGACTGTAATCCCAGCTACTTGGGAGGCTGGGTCAGGAGAATCGCTTTAACcGGGAG(GTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGAGTGGGAAACAGAGCAAGACTCCACCTCAAAAAGAAGAAGGAGAAGGAGAAGGAGATTATCTACATTCCTGAGGAGGAGAAGTTGTACTTAAACTACCTTGATCCAACTTCCAGCTTTACAATCATTGCCCCCCACCATGCATATATCATACATATATACCTGCTAGCATGAATACCTGCATCATATCTAGAATTAATGGGAATAGTCATAGGGCCAATCTTTCTTATATCAAGCAAGCTGAACAAGGGTCCAAGGGATAAGGCCACAGCTACTTCCTCCTGCTTTAGAACAGAGCTAAATAAACCTGTTCCTAAGTCTTGTGA)$ MRRRRRRDGFYPAPDFRDREAEDMAGVFDIDLDQPEDAGSEDELEEG|kivyipawawwlmpviqhfgrprwashlsqefetslanmvkpcly* 11BR012 ENSG00000108443.14 ENSG00000264451.1 +/+ +/+ chr17:59893924 chr17:48465447 5'UTR/splice-site exon/splice-site duplication 1 2 2 29 138 high . . . . . ENSG00000108443.14 ENSG00000264451.1 ENST00000393021.7 ENST00000579972.1 downstream upstream . ^(GTTTGGCTTCACGGAACCCTGTACGCATGCTCCTACGCTGAACTTTAGGAGCCAGTCTAAGGCCTAGGCGCAGACGCACTGAGCCTAAGCAGCCGGTGATGGCGGCAGCGGCTGTGGTGGCTGCGGCGGGTCCGGGCCCATGAGGCGACGAAGGAGGCGGGACGGCTTTTACCCAGCCCCGGACTTCCGAGACAGGGAAGCTGAGGACATGGCAGGAGT)GTTTGACATAGACCTGGACCAGCCAGAGGACGCGGGCTCTGAGGATGAGCTGGAGGAGGGG___GAAGCGCTCAGCTGTTAGAAGTGACAGCTGAAAACTTCTGTCGGGAGTAGCACTGCCGCTGCTGTTACAGCCACCAGGAGTTTTATTTCGGGAGCAAGGGGGCTCTGCTGCATCTTCCAATCTTCCAGG|AAAATTGTCTACATTCCTGCCTGGGCATGGTGGCTCATGCCTGTAATCCAGCACTTTGGGAGGCCGAGGTGGGCGAGTCACTTGAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGCCTCTACTAAAAATACAAAAAATTAGCTGAGCATGGTG(GTGCATGACTGTAATCCCAGCTACTTGGGAGGCTGGGTCAGGAGAATCGCTTTAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGAGTGGGAAACAGAGCAAGACTCCACCTCAAAAAGAAGAAGGAGAAGGAGAAGGAGATTATCTACATTCCTGAGGAGGAGAAGTTGTACTTAAACTACCTTGATCCAACTTCCAGCTTTACAATCATTGCCCCCCACCATGCATATATCATACATATATACCTGCTAGCATGAATACCTGCATCATATCTAGAATTAATGGGAATAGTCATAGGGCCAATCTTTCTTATATCAAGCAAGCTGAACAAGGGTCCAAGGGATAAGGCCACAGCTACTTCCTCCTGCTTTAGAACAGAGCTAAATAAACCTGTTCCTAAGTCTTGTGA)$ . 11BR012 ENSG00000153944.11 ENSG00000121064.13 +/+ +/- chr17:57616084 chr17:56995602 CDS/splice-site CDS inversion/3'-3' 15 15 0 145 112 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000153944.11 ENSG00000121064.13 ENST00000284073.7 . downstream downstream . ^(GTGCGAGGCAGCGGGGCTGAGCTAAGCCGAGCCCACGTGTGACGGCTCTCGCCGCTGCCCCGGCTCCGCCGCTCGCAGAGAGATTCGGAGGAGCCCGGGCGGGGGGGAGGAGGAGGGGGAGGAGGGAGCGGAGATCTCGGGGCTCGGAGCCGGCCGCCGCTCCGCTCCGATCGCTGTGGGGCTTGGTTTTTTGGGGGTGGGGGGGCGGGGGGGCTCAGATATGGAGGCAAATGGGAGCCAAGGCACCTCGGGCAGCGCCAACGACTCCCAGCACGACCCCGG___TAAAATGTTTATCGGTGGACTGAGCTGGCAGACCTCACCAG___ATAGCCTTAGAGACTATTTTAGCAAATTTGGAGAAATTAGAGAATGTATGGTCATGAGAGATCCCACTACGAAACGCTCCAG___AGGCTTCGGTTTCGTCACGTTCGCAGACCCAGCAAGTGTAGATAAAGTATTAGGTCAGCCCCACCATGAGTTAGATTCCAAGACG___ATTGACCCCAAAGTTGCATTTCCTCGTCGAGCGCAACCCAAG___ATGGTCACAAGAACAAAGAAAATATTTGTAGGCGGGTTATCTGCGAACACAGTAGTGGAAGATGTAAAGCAATATTTCGAGCAGTTTGGCAAG___GTGGAAGATGCAATGCTGATGTTTGATAAAACTACCAACAGG)CACAGAG___GGTTTGGCTTTGTCACTTTTGAGAATGAAGATGTTGTGGAGAAAGTCTGTGAGATTCATTTCCATGAAATCAATAATAAAATG___GTAGAATGTAAGAAAGCTCAGCCGAAAGAAGTCATGTTCCCACCTGGGACAAGAGGCCGGGCCCGGGGACTGCCTTACACCATGGACGCGTTCATGCTTGGCATGGGGATGCTGG|CTCTGTGGCCTCTCTGTAGAGCCCCTTATTTACGGCATTCAGTACTTGCTCTGCAACCTTAGACACCTCTGCCAGACCTTTGTCTTCGAGAAGAGACTGGAATGCAAACCAAGAGCAAAAAGACCCACTTTACTTGGGAACGTCAATCTGGTATTGCTGCAGTTAGGGAGGGGTAGGAGAAAGAGGGGAAGGAAGGAGAACGGGAGCTCACATATCAAAGTGTATTGTTACAAGCCACATGTTTATTGGATGAAAC MEANGSQGTSGSANDSQHDPGKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLGQPHHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSANTVVEDVKQYFEQFGKVEDAMLMFDKTTNRHRGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGMGML|alwplcrapylrhsvlalqp* 11BR012 ENSG00000157110.16 ENSG00000156675.16 +/+ -/- chr8:30504436 chr8:37877551 CDS/splice-site CDS/splice-site inversion 18 9 0 368 399 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)|C2_domain(100%),FIP_domain_(100%) . . ENSG00000157110.16 ENSG00000156675.16 ENST00000320203.8 ENST00000330843.9 downstream downstream duplicates(1),mismatches(1) ^(AAAGGGAGCTGCTTCCATCCCGGACTTCCCAGAGCCTGCCTGGAGCGCGTACTCAGCGGCTCTCGGGTCCCAGCGTCCCAGCCGCGGCCCGCGCTCCTCCGCCCCGCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCTCTAGGCACCCCCGTCCCCTCCTTCCAGCGGCTGCAGCCCCCAGCCCCAACTCTCCGCGCTTACTCCTGGGACGCGCGTCCTCGCCCCATCCTTTGCTTCCTTCCTTCCTTCCTTCTTCCTTCCTCCCCTGGCTCCCGCCCTCCCTCTCCAGGTCGCCCTCCCGGGGCCCGATTGTCTCGGTGCCCCGCTCCCGGCCCGCGCCCTGCCCCGTCTCTCCCTTGCACTTCCTGAGTCGCCCGCCGCCGCCGTCGCAGACTCGCCGCGGGAGCCCCAGCCCAACCCGAGCCCGACAGCCACTGCCCCGGCTCCAGCTCCAGCCCCACAGCCCGCGGCGCCCGCCCGAGGGAGCCCCGGCGCCCGGGGAAGGCTCCAGTGGGCTAGCGCGCCCTCGCCCAGCCCCGCGCCCCAGCCCTGCCCGGCCCGGCGAGGAAGGACCGGGAAGATGAACAACGGCGGCAAAGCCGAGAAGGAGAACACCCCGAGCGAGGCCAACCTTCAGGAGGAGGAG___GTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAG___GGCTATGAGGGTTCTCT)TATAAAGCTCACATCTAAACAG___CCTGTAGGTTTTGTCAGTTTTGACAGTCGCTCAGAAGCAGAGGCTGCAAAGAATGCTTTGAAT___GGCATCCGCTTCGATCCTGAAATTCCGCAAACACTACGACTAGAGTTTGCTAAGGCAAACACGAAGATGGCCAAGAACAAACTCGTAGGGACTCCAAACCCCAGTACTCCTCTGCCCAACACTGTACCTCAGTTCATTGCCAGAGAGCCAT|GTGGTATAAGTTGAAATCCAAACCAGGAAAGAAGGACAAGGAGCGAGGAGAAATTGAGGTTGACATCCAGTTTATGAGAAACAACATGACTGCCAGCATGTTTGACCTTTCTATGAAAGACAAGTCTCGGAATCCATTTGGAAAGCTGAAGGACAAGATCAAGGGGAAGAATAAGGACAGTGG(GTCAGACACCGCCTCCGCCATCATCCCTAGCACGACACCTTCGGTCGACAGTGATGATGAGTCTGTGGTTAAAGACAAGAAAAAGAAATCAAAGATCAAGACCTTACTTTCCAAGTCAAATTTGCAGAAGACGCCTCTTTCCCAGTCCATGTCTGTCCTGCCGACTTCAAAGCCAGAAAAAGTGCTGCTTCGTCCCGGAGACTTTCAGTCCCAGTGGGATGAAGATGACAATGAGGATGAGTCCTCCTCGGCCTCGGATG___TCATGTCTCACAAGAGAACAGCGAGTACGGATCTTAAGCAACTGAACCAGGTCAACTTTACCCTTCCCAAGAAGGAAGGACTTTCCTTTCTTGGTGGCCTTCGGTCTAAGAATGATGTCCTTTCCCGCTCTAATGTCTGCATCAATGGGAACCATGTTTACCTGGAGCAGCCAGAAGCCAAGGGTGAGATCAAGGATAGCAGCCCGTCCTCCTCCCCATCCCCCAAGGGCTTCAGAAAGAAGCATTTGTTCTCTTCTACAGAGAACCTGGCGGCTGGGTCTTGGAAGGAGCCTGCTGAAGGAGGTGGGCTGTCTTCTGACAGGCAGCTCTCCGAATCTTCCACCAAGGACTCCTTGAAGTCTATGACCCTGCCGTCCTACCGACCTGCCCCACTGGTCAGTGGGGACCTCAGGGAAAACATGGCCCCCGCAAACTCAGAGGCCACAAAAGAAGCTAAGGAGAGCAAGAAGCCAGAGAGCAGGAGGTCCTCTTTGCTGTCTCTGATGACGGGGAAGAAGGATGTGGCTAAGGGCAGTGAAGGTGAAAACCCTCTCACGGTCCCAGGGAGGGAGAAGGAAGGCATGCTGATGGGGGTTAAGCCGGGGGAGGACGCATCGGGGCCTGCTGAAGACCTTGTGAGAAGATCTGAGAAAGATACTGCAGCTGTTGTCTCCAGACAGGGCAGCTCCCTGAACCTCTTTGAAGATGTGCAGATCACAGAACCAGAAGCTGAGCCAGAGTCCAAGTCTGAACCGAGACCTCCAATTTCCTCTCCGAGGGCTCCCCAGACCAGAGCTGTCAAGCCCCG___ACTGGAAGTGTCTCCAGAGGCGCAACCCACAGCCAGGCTTCCTTCCCCTACTGACTCCCCTTCCTCTCTTCCTCCTCTTCCTTCTAGCTCTGGCCAGGCATCTGTCCCCTCTGAATTGGGACATGGTGCAGACACACAGTCCTCTGAGAGTCCTTCTGTCTTCTCCTCTCTCTCATCTCCCATAGCAGCTCCCATTTCCACATCCACTCCAATTGAAAGCTGGCCTCTCGTAGACAGGGGCCAGGCCAAGTCTGAAGGACCACCCTTGCTCCCTAAGGCAGAGTTGCAAACTGAGAGTTTAACACCGGTTCCAAATTCTGGTTCTTCTGCCCTGGGATCACTTTTCAAACAGCCATCCTTTCCAGCAAATAAAGGGACAGAAGATTCTCTGATGGGCAGGACCCGTGAGACAGGCACAGAGAAGAACACCAGCAGCCTTGAGTTGGAGGAGTCTCTCCCAGAGCAGCCTGAAACAGGGCGACAAGAGGAAGAACTTCCGAGATTCCCCTGCAAAAAACAAGACTACAGCCCATCATCTGGAGAAGCCCAGGAAGTACCGTTTGCCCTTTCACTCAGCAGTGATGGAGCTGTGAGCCCTGTTGGGGAGCTTGCAGCAGGAGGAGACAGAGACTTGGAGAGTCAGGCTGGGTCTCTTGTGGAGAGCAAAGCCAGGGATGCAGCTGAAGAAGTGGCGCCCCCTCTTCCCATGGGAGCATCAGTCCCTTCCATTGATTCCATGATGCGGAAGCTGGAAGAGATGGGTCTGAACCTCCGCAAGGACCAGAAGAAAACCAAGAAGCGTGTGTCATTTTCTGAGCAGCTCTTCACGGAAGAGGCAGTGGCGGGGGCTGCCTTGCTGGTGGAAGGACACAGCAGTTGTCCCCAGGAGCTGAACCCTGCATGGTCTGTTGCTGGAAACGCGTCTGACGGAGAGCCTCCTGAGTCTCCCCACGCAGAGGACTCAGAAAGGGAATCGGTGACCACACCTGGGCCAGCGACGTGTGGTGCGCCAGCCTCCCCAGCGGATCACCTCCTCCTCCCCTCCCAGGAGGAGAGTTTCTCCGAAGTCCCCATGAGTGAAGCAAGCTCAGCGAAAGACACTCCACTCTTTAGGATGGAGGGAGAGGATGCCCTTGTGACTCAGTATCAGAGCAAAGCCAGTGACCACGAAGGTTTATTGTCTGACCCCTTGAGTGACCTTCAGTTGGTCTCAGATTTTAAATCTCCAATCATGGCCGATCTGAACTTAAGCCTTCCTTCCATTCCTGAAGTCGCATCGGATGATGAAAGAATAGATCAGGTTGAAGATGACGGAGATCAGGTTGAAGATGATGGAGAGACAGCAAAGTCGTCAACTCTGGACATAGGAGCTTTGTCCTTGGGCTTGGTAGTCCCCTGTCCTGAGAGGGGAAAGGGGCCCAGTGGCGAGGCAGATAGGTTGGTACTGGGGGAGGGCCTGTGTGATTTCAGGCTGCAAGCACCCCAGGCATCTGTGACAGCTCCTTCAGAGCAGACCACAGAGTTCGGAATTCACAAACCACATCTTGGCAAGAGCTCAAGCTTGGATAAACAGCTGCCAGGCCCCAGTGGTGGTGAGGAAGAAAAACCGATGGGAAATGGGAGTCCAAGCCCGCCTCCTGGCACATCCCTGGACAATCCTGTACCCAGCCCCTCCCCTTCTGAGATCTTTCCTGTCACACACTCTTTCCCCAGCTCTGCACATTCTGACACTCACCACACCAGCACAGCAGAATCTCAAAAAAAAGCCACAGCAGAGGGCTCCGCTGGTAGAGTTGAAAATTTTGGCAAGAGGAAGCCACTCCTCCAGGCCTGGGTCTCACCCTCGGAGACACATCCAGTCTCAGCTCAGCCAGGCGCTGGAACTGGGTCAGCCAAGCACAG___ACTTCATCCTGTGAAGCCAATGAATGCAATGGCCACCAAGGTTGCTAACTGCAGCTTGGGAACTGCCACCATCATCAGTGAGAACTTGAACAATGAGGTCATGATGAAG___AAATACAGCCCCTCGGACCCTGCATTTGCATATGCGCAGCTGACCCACGATGAGCTGATTCAGCTGGTCCTCAAACAGAAGGAAACGATAAGCAAGAAGGAGTTCCAGGTCCGCGAGCTGGAAGACTACATTGACAACCTGCTTGTCAGGGTCATGGAAGAAACCCCCAATATCCTCCGCATCCCGACTCAGGTTGGCAAAAAAGCAGGAAAGATGTAAATCAGCAGAAAAAAAACACCGAGACGTTTCTGTGACTTCACTTTCACCTGCTCCAGGGGTCAAGGACTTGCCTTGCCTGATAACCAGCCAGCAGGCTCCGAATCACCATCTCCCTCACATGTTATCCGGCAAGAGTGAATTCTACCAATGGAAGCCAGGTTAATGATTACAATTAATCTTTTACTGTACATTCCCAAGGCTTTAGTTTTAAATGCCACTGTGCCTTTAACAAGGTTGTAAATATTTTATGCCCACCAGAGATGTGGTCATAAGATCTGATCCTGAGCCAGAGATTCAGATGGCACAGGAAGTATTCATGTATTTTAACACTGGGGTTTTCTTTCTTTCATACTGAGATTTTTTTTCAGTATGTATCCTCCAGCTCTTAAAGCTTACCTGAGAAAGCTTTAAATGAGAAAAGGACCATGCGATTGGTGCTGTGTTACATACACATACTTTCTTGGCTTCTGAGTAGCTCAGGTGTGGCTTTTGGCTGCAGATGTTAAATTTTGATACCATGTAAACCTACCCAGCTTCTCAGACTTGGGTCTTGTTTTTTGATGGGAACAGAGGTGTTTAGAGAAAGCCTCTGAGTATGCCTTTCAGATTTTGAACAAGCGGCCTTTTCTAAACATCGACTTCTACTACTCTCTAGCCTTAAAATACCTTCTGCTTAGATCCAGGGCCCTTCTACTGGAGATAGGAAAAGTAGAATTCAGGAATTAAAAGAATTACTCTTTATTCAATTTGAGGAACTTGGTGAAAGCCCCTCCTCTTATGACAGCCAGGTTCCTGCTGGCTAGACCAGCCTATTCAGCGCTTTGCTAGGGGATTGGGTGGTCCACGCACTCGCTAATACAGTTCTCCAGGTGTGGAATGATGTCAATACGATTGCTTGGCCTTTTCCCCCTGTGCCTTTGCTCGGTGCTCTGGTTTCCTCAGCAACACTCCTTGTAAGGGGCAGAGACAGGGTCCACCAACTCCCCAAGATGAAGAAGCCCCTTCAGGCCAGTCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGCAAGGCCGAGGAGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGGCATGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGGGGCAGGAGAATTGCTTGAACTTGGGAGATGGAGGCTGCAGCGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAAGAGTTTTTTTAAGACTCTTAAAAAAAGAGCCTGGGCAATTTTTTTAAGACTCTGTCTTAAAAAAAACTAAAAAGAAAAAAAGAAGCCCCTTCACTCTACAGGGGACAGGAGACCATGGATTGGACCCCAAAGGGATTGAACTGCATCTGCATGTCTGTCCTTTGAACACTTTCTCTCCCTGCCCAAAAGGAAACCCAAATTATTTGTGGGATACTGGGGAAATTGTAGTGAAGGGCTTAATGTAGTTAATAAAAGTTAAAAGTCAGTAGAAAACAGGTGCCTCAGCCTTCAAATGGTTGCTTTTTTTCCATTTTCCCTCATGAATAGACTCACCAGCATTTTACCCCCTTGTTATAAAACTGTGCAGAGCAAGAAGATGATACTTATTTTTGAATTTGTATTTTTAAAACTAGATTTATAGACTTTTTTTTTTTTTAACTAGGGCACTTGCTTCCTTCTTAGCTAAAAGCACCAGCTGAGATTTTTCAGGTAATTTTGTTGTTACTCACTTAAGACTGGAATTAGAATGTTTCTGGTATTTCTCATTTTTTTCCCTGGCTATGATAGAATCTCATCTAATCTTGACATCTCTCCTAGGGGAAGAATATCACAGGCTAATAGCGTGGTTGGGGGTGAAGATGATAGCAGTTATTAAATCAGGAATCTCTTTTATGTGTGTCCTTGTTACATTGAGGTTAAGAGACAAAATCATTGGCAGTGCAATCTCTTTCCAGGATTTCGTTTGCTGTGGCATTGGTTATATCAGAGCACTTTAATCTGAAGGATGATACTGTAACTTGATTTATCTAATTAGCTTTTAATTATCTACAGCTATTTTATTTTATTTAATTCTCTCCTACAGTACTGGGACCACTGTAAACTTCTCAGATGACTTGTATTTTTGTAGTGCTATGAAATTTATTTACATACTTATAAAGAAAACTGTATGTTCACTTGAACTCTGAAAATGTACATGTATGGCTGGACGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGAATCACTTGATTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAATACAGAAATTAGCTGGGTGTGGTGGCAGACAGCTGTAATCTCAGCTGCTCGGGAGGCTGAGGCACAAGAATCGCTTGAGCCAGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACATCATTGCACTCCAGCCTGGGCAACGGGCGAGACTCTGTCTCAAAAAAAAGAAAGAAAGAAAAGGTACATGTATATATTTGTCCTGCATTATGTTTTTTACTTGATATAAATGTATTTTTACTGTGATAGTCCAAGTGCCCTGGGGGGCAGGTGTGCTCTATGTGGTTCTTCTTCCATTGGAGAGCTGGCGTAGAGATCTGCAGTGTTCACAAGGATGTTGGTTTGGAGATGTCTGCTGCTAGGACCTGGGGTGTGTGACTCAGTCCATATGAGAGGGACATCTGGGTGGAGGAGTAAATTCCTGTGCTCTGAAATGCCACTTGGTAGCTCTGGACAATGAAGGACAATTGACTCAAGGGTGCCTGGCTTCTGCTGCTGCTGGGAAAAAATTCAGTTTATAGCATTCCTGCACCTCCCAAAGTAGATAACCTGGAGGTCATTCAGTTAACAACTGTCCCTGAGGACTCAGTTTTGGGGGAGGGGTTATCTGGGAGAAGCTTTAGCCTGTTCTGAGCCATTAGGAGACATTAGTGAATTGGAGCACTGGAGAATCCTACAAATGGCCTATGTCTCAGAAGAGCTGGGACCTCCTTCCAGCTGCTGCAGATGCTGACAGGCCCTGGGAGGCTGCTGTGCTCTGGAGAAGCTGGAGCAGCTCATTTCTTGGCCTAGCCTGGCTGCCTCAGAAAGAGCAGTCAGGACTTGAGGGAAGCATCAAATTCTATACCCATAAACTGCAGTTGGAAGTCAGCTTTTTGAAATGTCCAGCCTTTGCCCAATTGTTTCAGATCATCTCATGCCTCAGGCTTTGGCAGGTATCCTGCCCTCCATCTTATTCCAGTGTGTTCACCTCATCAAGGCAGCAGAGTGGATGAAGGAGTAAGTCTGCCCTTTGCCATACTGAACAGCTGTGGACCCCGATTGGTGAGGGCTCTGCATATGCCTGTATGAAGGAGATACAGGTGTGTGTGCACATGCCGGTATGAAGAAGACACAGGCATGTGCTTCTCAGTTTTGCTAACAGTGGGAGCTCAACGGGGCAGAGGGAGGAAGGTCCATGATGCTCAGCCACATACTGTAGAGAGAGGCAATTTAATGTTAAATGACGCACCATCCTCCCTCCCACCCTTCTCCCAGTCAACTTTTTTTCTTTTTCTAGAACTACTAATTATCTCTCAAGGCTGAAAAATTAATTGCCTTAGGTGGAGAACTTAATTCCTAGTATCCACCAAACTTAACTCCGTATCTCCATATGGTGTCTCCATATCTACTGTGTGAGCTACTTAACTGACGCCCTCTTCCTCCAACTGAAGGATCGCCCAACGTTTTTGGATTATAGAATTATTATTTCCTGCTTTCTTTCTTTGGGACTTTTGAATTTCTTTGGTTTCGTTTTTAAGAAGTAACCCAACATTTCCTACAACACTAAATAAAATGGTACTTACCTTTCAAAGATTTGTGTCTGTAGTTTGGTATGGGTGCAATAAAAATTTATTTTGTCTTCCTGGAAAACCTCTCTTGGTGGGGGTGGGGGGATGACCAGTGTTTCTCATCCCATGAGGGTCTCTCACTGGGATTTCTGTTGCTGCCATCTTGCCTGGTTCCCAGGAGTCCCAAGGCCCTTTTTCTCAAAGAGGACGGACATGTCTGGTCCCTTCGGATGCACCCTTCATCTTGGCCTGAGGGACCATGGCACTGGCCAGAGAAACTGAGTTGGAACGTGCTGCCCCCTTTTCCTTTGCAGCCGGTACCCTTGGCTGAGCATTTGGACAGGGTCTTTCCTC)$ MNNGGKAEKENTPSEANLQEEEVRTLFVSGLPLDIKPRELYLLFRPFKGYEGSLIKLTSKQPVGFVSFDSRSEAEAAKNALNGIRFDPEIPQTLRLEFAKANTKMAKNKLVGTPNPSTPLPNTVPQFIAREP|cgis* 11BR012 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 17 9 0 27 47 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1) CACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCC(ACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR012 ENSG00000104671.8 ENSG00000177369.9 +/+ +/+ chr8:30164175 chr17:49290270 CDS/splice-site exon/splice-site translocation 9 17 0 458 795 high out-of-frame . Bacterial_transferase_hexapeptide_(six_repeats)(100%)| . . ENSG00000104671.8 ENSG00000177369.9 ENST00000221114.8 ENST00000656738.1 downstream upstream duplicates(2),mismatches(1) ^AATTGGGGCCGTACCATGGCGGAGAAGACTCAAAAGAG___TGTGAAGATTGCTCCTGGAGCAGTTGTATGTGTAGAAAGTGAAATCAGAGGAGATGTAACTATCG|GTTGATTACTGACCTGTTTGTTGTGAAGATGCTGCTGCAATAAGCACAAACAGAACTCATGGCCAGAGAGCTGATGACCACGGATAGGAGCCCTTAGACAAGTAACTGACAGAGAGGGAGCACACACAGTTTCTAACCTGGAGTGCCCGTTGCACTGGTCAGGAGGAAGTGCCTGACCTAGAGGACTTGTTCCCTGATGTAACAGATATCTCTTTGGAGCAGAGAAGGTGAGAAGCATTTCCTTACTCATACTCCAGAGTTCCCC(CAGTGCTCTTGTTCCTCCTATAGATGTGATGGTGGTGGCCTGCGGAGGAGATAGGAGTGGAGAAGCCTGCCTGCTCTGCCTTTAGCACACAAAGGCGCCCCTATGGGAAGGTCCTGGCTTTCAATCTGGGGATCATCAATATGTAAAAAGTCTAATTAATTAAGATGCCTGACCCACAAGGACTCCACACCCACACATCAATCATTGCTTGGCATCATGAGGGATGAACGACGACTGGACTTTGTAATAAGGGAAAATTTCTTAAATAATCAAAATACATGAATAAGCTTTGAGCTAAGAGGCTATTCCAGAAGAGATTTAAAAGTGGGATCTTTCTTTAGAAGGTTGAGAATAAAGCTAACGTACTTTATTGCTCCCTTGTGGACAAAGCCAGAACTGCTGATGGAAAACAGTCACACAGCCCATGTCAAGAAATGAATAAAATGCATATTCAAATTTATGGAAGATTGAGAAGAAATCATCCCATTTTCAGAGGCTACATATATGCCCTTGGGGAGACAACTTAAGAAGTAAACACCAAAATTATGTCA)$ MAEKTQKSVKIAPGAVVCVESEIRGDVTI|g* 11BR012 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 10 6 1 42 31 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2),low_entropy(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCAT)TGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR012 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 11 0 18 36 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) CCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAG(CTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR012 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 1 0 129 29 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAA)CACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR012 ENSG00000092931.11 ENSG00000070540.13 +/- -/- chr17:76753360 chr17:68444589 intron CDS/splice-site deletion/3'-3' 8 3 0 15 278 high . . . . . ENSG00000092931.11 ENSG00000070540.13 . ENST00000262139.10 upstream downstream duplicates(1) GGATTACAGGTGGGTCCCACCACACCCAGATAATTTTTTGTAGTTTTGGTAGAGACGGGGTCTCACCATGTTGCCAGACTGGTCTTGAACTTCTGAGCTCAAGTGATCCACCTGCCTCAGCATCCTGAAGTGCTGGGATTCCAGGCATGAGCCACCACACCCGGCCTATCCTGTTACCTTCAAACTGAAAATAATCT|AGGCTGCTGGTTTGCCTAGAAGAGTCCATTTATATTCACAACATTAAAGACATGAAGCTGTTGAAGACCCTCCTGGATATTCCTGCAAACCCAACAG___GTCTATGTGCTCTCTCTATCAACCATTCCAATTCTTACCTGGCCTATCCTGGAAGCCTGACTTCAGGGGAG(ATTGTGCTTTATGATGGAAACTCCCTG___AAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAA___GGCACAGTCATCCGGGTGTTCTCTGTCCCTGATGGGCAAAAGCTCTATGAGTTCCGGAGAGGGATGAAAAG___GTATGTGACAATCAGCTCTCTAGTGTTCAGTATGGATTCACAATTCCTCTGCGCCTCCAGTAACACCGAGACGGTACACATCTTCAAGCTGGAACAGGTCACCAACAG___TCGACCAGAAGAGCCTTCGACCTGGAGTGGCTACATGGGAAAGATGTTTATGGCTGCTACCAACTACCTCCCTACCCAGGTGTCAGACATGATGCATCAGGACAGGGCTTTTGCCACTGCACGCTTGAACTTCTCCGGACAGAGGAACATCTGTACCCTCTCAAC___GATCCAGAAGTTGCCACGGCTGCTAGTTGCGTCATCCAGTGGACACCTTTATATGTACAATTTGGATCCTCAGGATGGAGGAGAGTGTGTCTTAATCAAAACCCACAG___CTTGCTTGGCTCAGGAACAACAGAAGAGAATAAAGAAAATGACCTCAGACCTTCCTTACCTCAGTCTTATGCAGCGACCGTAGCCAGACCAAGTGCATCTTCAGCCTCCACGGTGCCAG___GTTATTCTGAGGACGGCGGGGCGCTGCGAGGAGAAGTTATTCCTGAACATGAGTTTGCGACGGGACCAGTGTGTCTTGATGATGAGAATGAGTTTCCTCCT___ATAATCTTGTGCCGTGGAAATCAGAAGGGCAAAACGAAGCAGTCATGATGAGAAGCACACCTCAGAAATCAGGACATCCCCCCTATCAGGTGGTTTTGGAGAAAACAAGGAAGGCGGAAGAATGGAGTGCAATTGTGTGAGCAGAAAGGGGGGCAGGAATCCCGGGTGCTCCACTGCTTAAACCACAGGACCTGGTTAACTCCTCACCAAGCTTCCCACGACCCTGGTTGCCAATGGGCGCGGGAGACATTGTATACACATCATGCTATTTAAAATACGTTCAAACTATAGTGTAAATGCTAATTAACCATATTGGTATATAACCGGAATTTTATATTAAAAGGGGCCTCCTTTTTAAATATATGCCGTGTAAAAAATGTACTTATAGGAACATCTCTTTGAATTGTATTTCTTGTATATTACATACTTAGAGAGAGACTCTTTTAGCCAGGCAAAGTCTTTTTTGGCTGTGGCTGGAATAAATCATTTATTACTTGGGAGTCCCATTTTGGACACTAATAATAAAATCATGGCAATGCA)$ . 11BR012 ENSG00000268785.1(9886),ENSG00000125735.10(57312) ENSG00000167676.4 ./- -/- chr19:6603941 chr19:4508955 intergenic CDS/splice-site deletion 6 4 0 17 11 high . . |Perilipin_family(100%) . . . ENSG00000167676.4 . ENST00000633942.1 upstream downstream mismatches(1) TGGAACTCAGCCATGGTGGTGTGTCACTTTGTACTTTGCAGACAAGGGCATCACCTTTGATGTGTCGGAGGCACTTCAGTGAAAGAATTTTGGCTCCTAAAGATTTTGCAGAACAGAGATGACATGCCAGCCCAGACTTTCAT|CTCAGCTGGCTGCCTCCCAGCCcGGGCCAAAGGTGCTGTCGGCGGAACAGGGGAGCTACTTCGTTCGTTTAGGTGACCTGGGTCCCAGCTTCCGCCAGCGGGCATTTGAACACGCGGTGAGCCACCTGCAGCACGGCCAG(TTCCAAGCCAGGGACACTCTGGCCCAGCTCCAGGACTGCTTCAGGCTG___ATTGAAAAGGCCCAGCAGGCTCCAGAAGGGCAGCCACGTCTGGACCAGGGCTCAGGTGCCAGTGCGGAGGACGCTGCTGTCCAGGAG___GAGCGGGATGCCGGGGTTCTGTCCAGGGTCTGCGGCCTTCTCCGGCAGCTGCACACGGCCTACAGTGGCCTGGTCTCCAGCCTCCAGGGCCTGCCCGCCGAGCTCCAGCAGCCAGTGGGGCGGGCGCGGCACAGCCTCTGTGAGCTCTATGGCATCGTGGCCTCAGCTGGCTCTGTAGAGGAGCTGCCCGCAGAGCGGCTGGTGCAGAGCCGCGAGGGTGTGCACCAGGCTTGGCAGGGGTTAGAGCAGCTGCTGGAGGGCCTACAGCACAATCCCCCGCTCAGCTGGCTGGTAGGGCCCTTCGCCTTGCCCGCTGGCGGGCAGTAGCTGTAGGAGCCTGCAGGCCCGGCGCGGGGTCGCCCTGCTCTGTCCAGGGAGGAGCTGCCTCAGAACTTTCTCCCCGCCCCCAAACCTGGATCGGTTCCCTAAAGCCCTAGACCTTTGGGGCTGCAGCTGGCTGAGCGCCGAGGGGCTGCGGAGGCAGTGACCTTCTTAACTGAGCCACCCCACGCCCTGCTCCGGGCCTGCCTGCATCTCCCACCTCCTCCCCAGCGCTGCCTGCCCCTCTCGGAGCCTGGGGTCACTCAGACCACCAGCCAAGAGCCTTCCCTTGAAGTCCCCAAGCAAGCACTGCAATTAGGAAAGAGAAAAAGCAGCGTGCCCAGCCTGGAAGGGCATCTGTTTGCCCCGCTAGCAACCCTTTTATATCTAGCAGGGCTCTTCCAGTCCTGCAGCACGGGCCCCCAGCTATCAGCGGTGCAGGCAGTGCTGTGGCATCCCAGGCTCCGGGCAGCTCCGTTCTCATGCTGAAAGTGGGTCTCCGGCCTTAGCACACACACCTTGAGGGTCTTAAGAACCACATTCCCTCATAGTAGAAAGTACTAGAAAAAGCGACACTGCCATCATCATCCCAAGGCAGGCTGCTACTGCCTTTGCTGACCCCCGGGGTGGCCTCACGGTGGGGACAAAGCTGCCAGGAGCCACAGCAGCCACAGCTGGGGCTTTGCACCAGCCTGGCTTGAGACTGAGCAGTTTGCAGGGGGTGGGGGGTGCAAAAAACAAGCAAACAGGCTGCTGCTGCCTCCAGCTGCCCACCACAGGCCTGCCCCAGGCACCTGGGGCTCTGAGGCCCCTGGGGAGGCTGGGCCCAGCAGCTGCCCCTGGAGAACACAGACAAAGGACTTCCCCGCAGGGAACTGTGCCCTATGGAGGGATCAGACAGGGCTGGGAACAGCCACAGAGGCTGCGTGCCTATGGCACAGCCCTTCCTCCGCCGCACACTCCCCCTGGGTCCTCAGGCCCACCCAAGCGCCGGGCTGCAGAGGAAGCGGGGCTGGGGAGGCTGCAGGCATCAGAGACACTGGTGGTGGCGGACCCGGCCGCCGGGCCCCGTGCTCTCAGGCTAGCCCAGGTCGTGGAGGCTGGCAGGCTCAGGTCGGGTGTGAGACGTGCCGTGGCTGCGCTCAGTCCAGCGGGGAGGAGCCGTTCAGCCCGGCCTCCCCAGGAAGCCATATCCCCACTCACCCGGTAAGAGAACCTTGTCGTCCCCTTTCCATGCTCTCCTAGGACACGAGCCCAGGAACCCCAGACCCAGGGGGAGGAAGGGTGGAGGGGCCCCAGGGGTCACCGTGTGCACCAGGGGCCGTGAGGGGCCGGGGCATTCAGCTCAGCTCTGAACCGGGGAAGCTGGCACGGCAAGGACTGCCTCAGGTGACGGGCCGTGAGAGGGGACGGGTCAGGAGCCTTCCCAAGCCTTCTCCTCAGCCCGACACCCATGGCCATCGGAGGCTAGGATGCCAGACACAGCCATTTGCAGAAATCAGGCACAGTGACTGCAGCTCACGTCCAGCCAACCAAGCATGGGGCCGCAGCTCAGGAAGTCCCTTCCCGCCACACCACAGCCTAATTCTTACTGGGACGGAGGCAACTCGGCTACGCTGGGCAGGACGACAAACACGAGACGCCACTGTGGAATGAGCAACTTCGGAGCACGGGGTGACTTGCTTGGGACCGTGCCCACGTGACAGCCCCTTATGCAGAGGAGGAAAGAGAAGCCCCGAGTGGGAGGGGAACCTGTCCAAAGTCACACGGTGTGTGGGTGACACAGCTGGGGTGAGTCGAGGCTGGCCCCTGAGGCCCATGCTCCCTGAACGCTGGAGACCACTGTCGGCTAGCAGCGGCTCTCAGGGAAGGCCTGGTCTCCACCCTCCCAGCCTAGCCTCGCGGACCCTCGTCCTCCCCACATCGGACCTGCTCACCTGCCTGGACCCTGGGCTGCCAGATGCAGGAAGCATCAAACCCCCCAGCCTCGTGGGTGCGGGGCAGGGCGCAGGCAGCACAGCTTAGATGCCCTGGTTTGTCCCTCTTGTCTCCTGGGAAGAGCTTGCTCCCGCCCAGCTCTCCTGCCACTGGCCTTTCAGGGTTGGGCTGGGCCCAGAGTGCCTTTTAGTCGCTTCTCACGGTGGCCTGATGGCTCAACCCAGTCCCAAACGGGCCCAGTGACACTGCCGCCTGCGCCCCAGCTCAGGCCCCCACTGCACCAGCAATGCTAGAAAACCAAGCCAATAAAAGTGATTTCTTTTTTCATTAAAAAA)$ . 11BR012 ENSG00000141198.16 ENSG00000264968.1 +/+ +/- chr17:54950126 chr17:39935645 CDS/splice-site intron inversion/3'-3' 3 6 1 97 17 high out-of-frame . GAT_domain(100%),VHS_domain(100%)| . . ENSG00000141198.16 ENSG00000264968.1 ENST00000575882.6 . downstream downstream . ^(CCTCTGGCGCTACCATGGCGTTTGGCAAGAGTCACCGGGATCCCTACGCGACCTCCGTGGGCCACCTCATAG___AAAAGGCTACATTTGCTGGAGTTCAGACTGAAGATTGGGGCCAGTTCATGCACATCTGTGACATAATTAACACTACCCAGGATGG___GCCAAAAGATGCAGTGAAAGCTTTGAAGAAAAGGATTTCCAAAAACTACAATCATAAAGAAATCCAACTTACCTTGTCA___CTTATTGACATGTGTGTGCAGAACTGTGGTCCAAGTTTCCAGTCTCTGATTGTGAAGAAGGAATTTGTTAAAGAGAATTTAGTTAAGCTACTGAATCCCAGATACAACTTGCCATTAGACATTCAGAATAGAATCTTGAATTTCATTAAG___ACTTGGTCACAGGGCTTCCCAGGAGGTGTGGATGTAAGCGAAGTCAAAGAAGTATACCTCGACCTGGTTAAGAAAGGCGTTCAGTTTCCTCCCTCAGAAGCAGAGGCTGAAACAGCAAGACAAGAG___ACTGCTCAAATCTCATCAAATCCTCCAACATCTGTCCCTACTGCACCAGCTCTTTCTTCTGTAATTGCTCCAAAGAACTCGACTGTTACATTGGTCCCAGAACAG___ATTGGAAAACTGCACAGTGAATTGGATATGGTGAAAATGAATGTGCGAGTGATGTCCGCCATATTGATGGAGAATACTCCTGGGTCTGAAAACCATGAAGACATAGAGCTTCTGCAG___AAACTCTATAAAACAGGTCGGGAGATGCAGGAGAGGATCATGGACCTGCTTGTGGTGGTGGAGAACGAAGATGTAACTGTTGAGCTAATTCAGGTGAATGAGGATTTGAATAATGCTATCCTTGGATATGAGAG___GTTTACTAGAAACCAACAAAGGATTTTGGAGCAAAATAAGAACCAGAAGGAAGCCACCAAT___ACTACCAGTGAGCCTTCTGCCCCATCTCAAGATCTCCTCGACCTAAGTCCCAGTCCCCGGATGCCTAGGGCCACTCTGGGAGAACTCAACACCATGAATAATCAACTTTCAGGCTTAA___ATTTCAGCCTTCCAAGTTCTGATGTAACAAACAACTTAAAACCCAGTCTTCATCCACAGATGAACTTGCTAGCCTTGGAGAATACAGAGATACCCCC___GTTTGCCC)AAAGGACCAGCCAAAACCTCACCTCAAGCCACGCATATGATAAT___TTTCTGGAACATTCAAATTCAGTGTTTCTACAGCCAGTTAGTCTACAAACCATTGCAGCAGCACCATCAAACCAGAGTCTGCCACCTTTGCCCAGCAATCATCCAG___CGATGACAAAAAGTGATCTCCAGCCACCTAATTACTACGAGGTAATGGAGTTTGATCCCTTAGCTCCTGCTGTCACTACAGA|GTCTCGTTCTGTCATCCAGGCTGGACCACAGTGGCATGATCACAGCTCACTTGCAGCCTCAACCTCCTGGGTTCAAGCCGTCTTCCCACCTCACCCTCCCAAGTAGCTGGGACTACAGGCGCACACCACCACACCCAGCTAACTTTTGTATTTTTGTGTAGAGCCACCGCGCCTGGCTGAGAACTAAATGTCCCCCAGCCAATGAGGGAAGACTGGTGTGTGCACAAATATAGCCCTCtGATCACCTAAGGGAAGGCTTGGGTTGAGG MAFGKSHRDPYATSVGHLIEKATFAGVQTEDWGQFMHICDIINTTQDGPKDAVKALKKRISKNYNHKEIQLTLSLIDMCVQNCGPSFQSLIVKKEFVKENLVKLLNPRYNLPLDIQNRILNFIKTWSQGFPGGVDVSEVKEVYLDLVKKGVQFPPSEAEAETARQETAQISSNPPTSVPTAPALSSVIAPKNSTVTLVPEQIGKLHSELDMVKMNVRVMSAILMENTPGSENHEDIELLQKLYKTGREMQERIMDLLVVVENEDVTVELIQVNEDLNNAILGYERFTRNQQRILEQNKNQKEATNTTSEPSAPSQDLLDLSPSPRMPRATLGELNTMNNQLSGLNFSLPSSDVTNNLKPSLHPQMNLLALENTEIPPFAQRTSQNLTSSHAYDNFLEHSNSVFLQPVSLQTIAAAPSNQSLPPLPSNHPAMTKSDLQPPNYYEVMEFDPLAPAVTTe|srsviqagpqwhdhsslaastswvqavfpphppk* 11BR012 ENSG00000126217.21 ENSG00000247570.2(17047),ENSG00000253721.1(25720) +/+ ./+ chr13:112902371 chr8:69961695 CDS/splice-site intergenic translocation 4 6 0 95 14 high out-of-frame . . . . ENSG00000126217.21 . ENST00000375608.7 . downstream upstream mismappers(1) ^(ACCTGCGGGGCGCGGAGCTCGGCGGACGCGGGAGGG)CAGCACCACGGGCGGCAG___CCTCATGTTTGACTGTTGGAGATTTATCCTGTGCAAGAGACCTGGAAGCAACAGTTATTCTTCCCCACAACaGCCCAATGAGGCCAAAAAGGAGGAAACGGATCACCAAATTGATGTGTCTGACGTCATCAGGCTTGTTCAAGACACACCGGAGGCGACGGCCATGGCCACAG|GCAGAGTTTCACTCTTGTCACCCAGGCTGGGGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG___CAAAGAAGACGTAAAAAGTATGTGCAGAAGACATGAAGCATCTACCTAATGAG...ACTAAAAATACGAAAAAAAATTACCCGGGCATGGTGGCTCAAGGAGAGTAGTCCCAGCTACTCGGGAGATTGAGGCATGAGAATCGCTTGAACCCGGGAGGTGAATCAAGTTGAAGTGAGCTGAGATCGCGTCACTGCACTCCAGCCTGG MFDCWRFILCKRPGSNSYSSPQqPNEAKKEETDHQIDVSDVIRLVQDTPEATAMAT|grvsllsprlgcngailahcnlhlpvqvillpqppe* 11BR012 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 3 7 0 34 55 high . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000328189.7 upstream downstream mismatches(1) GAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG(___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACC)$ . 11BR012 ENSG00000153944.11 ENSG00000121064.13(21225),ENSG00000261192.1(17485) +/+ ./- chr17:57616084 chr17:57027993 CDS/splice-site intergenic inversion 4 5 0 145 41 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000153944.11 . ENST00000284073.7 . downstream downstream . ^(GTGCGAGGCAGCGGGGCTGAGCTAAGCCGAGCCCACGTGTGACGGCTCTCGCCGCTGCCCCGGCTCCGCCGCTCGCAGAGAGATTCGGAGGAGCCCGGGCGGGGGGGAGGAGGAGGGGGAGGAGGGAGCGGAGATCTCGGGGCTCGGAGCCGGCCGCCGCTCCGCTCCGATCGCTGTGGGGCTTGGTTTTTTGGGGGTGGGGGGGCGGGGGGGCTCAGATATGGAGGCAAATGGGAGCCAAGGCACCTCGGGCAGCGCCAACGACTCCCAGCACGACCCCGG___TAAAATGTTTATCGGTGGACTGAGCTGGCAGACCTCACCAG___ATAGCCTTAGAGACTATTTTAGCAAATTTGGAGAAATTAGAGAATGTATGGTCATGAGAGATCCCACTACGAAACGCTCCAG___AGGCTTCGGTTTCGTCACGTTCGCAGACCCAGCAAGTGTAGATAAAGTATTAGGTCAGCCCCACCATGAGTTAGATTCCAAGACG___ATTGACCCCAAAGTTGCATTTCCTCGTCGAGCGCAACCCAAG___ATGGTCACAAGAACAAAGAAAATATTTGTAGGCGGGTTATCTGCGAACACAGTAGTGGAAGATGTAAAGCAATATTTCGAGCAGTTTGGCAAG___GTGGAAGATGCAATGCTGATGTTTGATAAAACTACCAACAGGCACAGAG___GGTTTGGCTTTGTCACTTTTGAGAATGAAGATGT)TGTGGAGAAAGTCTGTGAGATTCATTTCCATGAAATCAATAATAAAATG___GTAGAATGTAAGAAAGCTCAGCCGAAAGAAGTCATGTTCCCACCTGGGACAAGAGGCCGGGCCCGGGGACTGCCTTACACCATGGACGCGTTCATGCTTGGCATGGGGATGCTGG|CTGTGCCTACTTATTAGGCTGTAGAAAcGGCATGCTTTCCTGGCTGTGTTCCTCCAAGGGCTCCACCCTGAAGCCAGTAATCCAATTAAGAAACTGGCAAATGAAAAATCTTTCAACTACTGGATCTTCTTCTGTC MEANGSQGTSGSANDSQHDPGKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLGQPHHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSANTVVEDVKQYFEQFGKVEDAMLMFDKTTNRHRGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGMGML|avpty* 11BR012 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 2 7 0 427 67 high . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000560197.5 upstream downstream duplicates(3),mismappers(2) CGCGCTGCTGAATTCCATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAG(CCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 11BR012 ENSG00000121060.18 ENSG00000227036.8 -/- -/- chr17:56908468 chr17:72428298 CDS/splice-site exon/splice-site duplication 5 3 0 57 20 high out-of-frame . RING-type_zinc-finger(100%)| . . ENSG00000121060.18 ENSG00000227036.8 ENST00000316881.9 ENST00000648520.1 upstream downstream . ^(CGTTTCCTCGGCGGCCTCGGAGCGCGGGTGCAGCAGTTGTGTCCCGACCCCTGGGAGCGCCATGGCAGAGCTGTGCCCCCTGGCCGAGGAGCTGTCGTGCTCCATCTGCCTGGAGCCCTTCAAGGAGCCGGTCACCACTCCGTGCGGCCACAACTTCTGCGGGTCGTGCCTGAATGAGACGTGGGCAGTCCAGGGCTCGCCATACCTGTGCCCGCAGTGCCGCGCCGTCTACCAGGCGCGACCGCAGCTGCACAAGAACACGGTGCTGTGCAACGTGGTGGAGCAGTTCCTGCAGGCCGACCTGGCCCGGGAGCCACCCGCCGACGTCTGGACGCCGCCCGCCCGCGCCTCTGCACCCAGCCCGAATGCCCAGGTGGCCTGCGACCACTGCCTGAAGGAGGCCGCCGTGAAGACGTGCTTGGTGTGCATGGCCTCCTTCTGTCAGGAGCACCTGCAGCCGCACTTCGACAGCCCCGCCTTCCAGGACCACCCGCTGCAGCCGCCCGTTCGCGACCTGTTGCGCCGCAAATGTTCCCAGCACAATCGGCTGCGG)GAATTTTTCTGCCCCGAGCACAGCGAGTGCATCTGCCACATCTGCCTGGTGGAGCATAAGACCTGCTCTCCCGCGTCCCTGAGCCAGGCCAGCGCCGACCTGGAG___GCCACCCTGAGGCACAAACTAACTGTCATGTACAGTCAGATCAACGGGGCGTCGAGAGCACTGGATGATGTGAGAAACAGGCAGCAGGATGTGCGG|GTGGAATCAGAGGTTTCTGGCTGACTCGGTGGGTGCTTTGAACCAGGAAAGGACAAGAAAGAG___GATGGGAAGGACTGATCCACATTCCCACCAGGAAGTTTAGCAGAACCCCCGCGTGCCACCTGGACCCCTTGGAAGGACCTGGCTCAGGCTGGAC(CACCTCTTGAGAGGCAGGAGCTCTGGATTTGATCAAGAATTCTTTGCTGAGCATGGTGCCTCATGCCTATAATCCCAACACTTTGGGAGGCCAGTGTGGGAGGATCTCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACACAGAGAGACCCCATCTCTAAAATAATAATAATAATAAAATAAAAAATTAGCAGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTACCCAGGAGGCTGAGGCAAGAGGATGGCTGGAGCCTGGGATGTTGAGGCTGCAATGAACTGTGATTACCCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGAGACCCTGTCTCAAATAATAATAATAATAATAATCTTATTTTGGAGAATAAAGAGACCTCTGGATTTGAGGTGCCATTTGGGTAGAAAGAAAAGACGTTTACACCGAGAAATAGTCTGTGTTGCCCTGAAGGAGCAGAGGGATGCATCGCTGGAGGTGACCTACAGTTGAAGAAGACTCATTATGACAGACCTTGTCCTTCTTCCTTGTGGAAAGTGTTTCCTCTGCTGCTACTGCTCATGAGACTCTTCCCCCTCCCTGTCCCAGGGAACCAAAGGGCTTTCTACCACACCCTTTCTTGCCCCCCGCCTCCCATGTCTGCTGTGCCTTTGTACTCAGCAATTCTTGTTTGCTCCATTATCTTCCAGCCGGATACAGAGTGAATAGTTAACCACACTTAGGTCAAATAGGATCTAAATTTTTGTTCCTGCTCCGTGTAAAGAGGCCAGTGTTTGTGTGTTGCAAGCAGCCTTGGAATAGTAACTCTTCTCATTTGTTTGGGATCTGGCCACCAAGTTCCAGAATGATACACGGATCAGTGCAGAAGTTCATCAGGCTCTCGGACCTTAGGGCTGTTGGAGAAGGCTTCAGCAGCAGAACTGATGGTGAAGGCTCGTGTTCTCCATCCTCAACTTTCTTTGCTTCGATCATACACAAGAATACATTTGGAAGGGCAAAAAATGAACACTGTCGTTCATTGCAGCCGTGTTTTGTGACACAGATGCACAGTCTGCTGTGAAGACCTTCTCTCAAGTGGCATTTGGGAGTCCATGCCAGATCATGGTGCTTCATGAGAGACTGACAGCTATCAGGGGTTGTGGCACTTAGTGAGGACTCTCCTCCCCCAGTGTGTGCTGATGACACATACACACCTGACAATAGCTTGAGTCTTCTCTGTTCCTTTTACTCTGTAGCCAACATACACATGATTTAAAACCCTTTCTAAATATCTATCATGGTTCATCCTTGTCCAAATGCAGAGTCAGAGCTATTTGTACTTCATTATTATTTCCAAGGCGAATAGTTGGCTTTCTTTTTGCAAAAATAATTAAAGTTTTTGTATGTTG)$ MAELCPLAEELSCSICLEPFKEPVTTPCGHNFCGSCLNETWAVQGSPYLCPQCRAVYQARPQLHKNTVLCNVVEQFLQADLAREPPADVWTPPARASAPSPNAQVACDHCLKEAAVKTCLVCMASFCQEHLQPHFDSPAFQDHPLQPPVRDLLRRKCSQHNRLREFFCPEHSECICHICLVEHKTCSPASLSQASADLEATLRHKLTVMYSQINGASRALDDVRNRQQDVR|vesevsg* 11BR012 ENSG00000121060.18 ENSG00000227036.8 -/- -/- chr17:56908468 chr17:72431224 CDS/splice-site exon/splice-site duplication 2 5 0 57 10 high out-of-frame . RING-type_zinc-finger(100%)| . . ENSG00000121060.18 ENSG00000227036.8 ENST00000316881.9 ENST00000648520.1 upstream downstream . ^(CGTTTCCTCGGCGGCCTCGGAGCGCGGGTGCAGCAGTTGTGTCCCGACCCCTGGGAGCGCCATGGCAGAGCTGTGCCCCCTGGCCGAGGAGCTGTCGTGCTCCATCTGCCTGGAGCCCTTCAAGGAGCCGGTCACCACTCCGTGCGGCCACAACTTCTGCGGGTCGTGCCTGAATGAGACGTGGGCAGTCCAGGGCTCGCCATACCTGTGCCCGCAGTGCCGCGCCGTCTACCAGGCGCGACCGCAGCTGCACAAGAACACGGTGCTGTGCAACGTGGTGGAGCAGTTCCTGCAGGCCGACCTGGCCCGGGAGCCACCCGCCGACGTCTGGACGCCGCCCGCCCGCGCCTCTGCACCCAGCCCGAATGCCCAGGTGGCCTGCGACCACTGCCTGAAGGAGGCCGCCGTGAAGACGTGCTTGGTGTGCATGGCCTCCTTCTGTCAGGAGCACCTGCAGCCGCACTTCGACAGCCCCGCCTTCCAGGACCACCCGCTGCAGCCGCCCGTTCGCGACCTGTTGCGCCGCAAATGTTCCCAGCACAATCGGCTGCGGGAATTTTTCTGCCCCGAGCACAGCGAGTGCATCTGCCACATCTGCCTGGTGGAGCATAA)GACCTGCTCTCCCGCGTCCCTGAGCCAGGCCAGCGCCGACCTGGAG___GCCACCCTGAGGCACAAACTAACTGTCATGTACAGTCAGATCAACGGGGCGTCGAGAGCACTGGATGATGTGAGAAACAGGCAGCAGGATGTGCGG|GTATTTTTCCCTCTCCACCCTGGTCTTCTCCTGTAACGTGTGGCCGCCTTTTCCAGCACGGCCTCCTGCCTTCCTGGTGCACTTTTTGGAGAACGTG___GTGGAATCAGAGGTTTCTGGCTGACTCGGTGGGTGCTTTGAACCAGGAAAGGACAAGAAAGAG___GATGGGAAGGACTGATCCACATTCCCACCAGGAAGTTTAGCAGAACCCCCGCGTGCCACCTGGACCCCTTGGAAGGAC(CTGGCTCAGGCTGGACCACCTCTTGAGAGGCAGGAGCTCTGGATTTGATCAAGAATTCTTTGCTGAGCATGGTGCCTCATGCCTATAATCCCAACACTTTGGGAGGCCAGTGTGGGAGGATCTCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACACAGAGAGACCCCATCTCTAAAATAATAATAATAATAAAATAAAAAATTAGCAGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTACCCAGGAGGCTGAGGCAAGAGGATGGCTGGAGCCTGGGATGTTGAGGCTGCAATGAACTGTGATTACCCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGAGACCCTGTCTCAAATAATAATAATAATAATAATCTTATTTTGGAGAATAAAGAGACCTCTGGATTTGAGGTGCCATTTGGGTAGAAAGAAAAGACGTTTACACCGAGAAATAGTCTGTGTTGCCCTGAAGGAGCAGAGGGATGCATCGCTGGAGGTGACCTACAGTTGAAGAAGACTCATTATGACAGACCTTGTCCTTCTTCCTTGTGGAAAGTGTTTCCTCTGCTGCTACTGCTCATGAGACTCTTCCCCCTCCCTGTCCCAGGGAACCAAAGGGCTTTCTACCACACCCTTTCTTGCCCCCCGCCTCCCATGTCTGCTGTGCCTTTGTACTCAGCAATTCTTGTTTGCTCCATTATCTTCCAGCCGGATACAGAGTGAATAGTTAACCACACTTAGGTCAAATAGGATCTAAATTTTTGTTCCTGCTCCGTGTAAAGAGGCCAGTGTTTGTGTGTTGCAAGCAGCCTTGGAATAGTAACTCTTCTCATTTGTTTGGGATCTGGCCACCAAGTTCCAGAATGATACACGGATCAGTGCAGAAGTTCATCAGGCTCTCGGACCTTAGGGCTGTTGGAGAAGGCTTCAGCAGCAGAACTGATGGTGAAGGCTCGTGTTCTCCATCCTCAACTTTCTTTGCTTCGATCATACACAAGAATACATTTGGAAGGGCAAAAAATGAACACTGTCGTTCATTGCAGCCGTGTTTTGTGACACAGATGCACAGTCTGCTGTGAAGACCTTCTCTCAAGTGGCATTTGGGAGTCCATGCCAGATCATGGTGCTTCATGAGAGACTGACAGCTATCAGGGGTTGTGGCACTTAGTGAGGACTCTCCTCCCCCAGTGTGTGCTGATGACACATACACACCTGACAATAGCTTGAGTCTTCTCTGTTCCTTTTACTCTGTAGCCAACATACACATGATTTAAAACCCTTTCTAAATATCTATCATGGTTCATCCTTGTCCAAATGCAGAGTCAGAGCTATTTGTACTTCATTATTATTTCCAAGGCGAATAGTTGGCTTTCTTTTTGCAAAAATAATTAAAGTTTTTGTATGTTG)$ MAELCPLAEELSCSICLEPFKEPVTTPCGHNFCGSCLNETWAVQGSPYLCPQCRAVYQARPQLHKNTVLCNVVEQFLQADLAREPPADVWTPPARASAPSPNAQVACDHCLKEAAVKTCLVCMASFCQEHLQPHFDSPAFQDHPLQPPVRDLLRRKCSQHNRLREFFCPEHSECICHICLVEHKTCSPASLSQASADLEATLRHKLTVMYSQINGASRALDDVRNRQQDVR|vffplhpglll* 11BR012 ENSG00000157110.16 ENSG00000249906.1 +/+ -/- chr8:30504436 chr17:49511113 CDS/splice-site exon/splice-site translocation 2 6 0 368 17 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000157110.16 ENSG00000249906.1 ENST00000320203.8 ENST00000514506.1 downstream downstream . ^(AAAGGGAGCTGCTTCCATCCCGGACTTCCCAGAGCCTGCCTGGAGCGCGTACTCAGCGGCTCTCGGGTCCCAGCGTCCCAGCCGCGGCCCGCGCTCCTCCGCCCCGCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCTCTAGGCACCCCCGTCCCCTCCTTCCAGCGGCTGCAGCCCCCAGCCCCAACTCTCCGCGCTTACTCCTGGGACGCGCGTCCTCGCCCCATCCTTTGCTTCCTTCCTTCCTTCCTTCTTCCTTCCTCCCCTGGCTCCCGCCCTCCCTCTCCAGGTCGCCCTCCCGGGGCCCGATTGTCTCGGTGCCCCGCTCCCGGCCCGCGCCCTGCCCCGTCTCTCCCTTGCACTTCCTGAGTCGCCCGCCGCCGCCGTCGCAGACTCGCCGCGGGAGCCCCAGCCCAACCCGAGCCCGACAGCCACTGCCCCGGCTCCAGCTCCAGCCCCACAGCCCGCGGCGCCCGCCCGAGGGAGCCCCGGCGCCCGGGGAAGGCTCCAGTGGGCTAGCGCGCCCTCGCCCAGCCCCGCGCCCCAGCCCTGCCCGGCCCGGCGAGGAAGGACCGGGAAGATGAACAACGGCGGCAAAGCCGAGAAGGAGAACACCCCGAGCGAGGCCAACCTTCAGGAGGAGGAG___GTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAG___GGCTATGAGGGTTCTCTTATAAAGCTCACATCTAAACAG___CCTGTAGGTTTTGTCAGTTTTGACAGTCGCTCAGAAGCAGAGGCTGCAAAGAATGCTTTGAAT___GGCATCCGCTTCGATCC)TGAAATTCCGCAAACACTACGACTAGAGTTTGCTAAGGCAAACACGAAGATGGCCAAGAACAAACTCGTAGGGACTCCAAACCCCAGTACTCCTCTGCCCAACACTGTACCTCAGTTCATTGCCAGAGAGCCAT|AAAGAATGGAAAATGCATTTAAAGCTTTAAAATGCCTTCTGGGAGTTCGTGCACATCCTGGATTCCTGGATGTGGGTGCCACAGCATTCCCAGTGTGACAAGCGAAGGGGAAGAGACATATGCACACGCAG(___GAGAACACGAGGCCCGAGCCCGCCTCGCACACGCGGCACGCCTCGCAGCGCCCAGTCGTCTCATCCTGGTAGTAGCCGTAGGCGCAGCGGCACACGGCGTCGTCGGCCTCCACGCACGGCGCCGACATGCTCTGGAGCCCCACGCACTCGGTGCACGGCTTGCACGGCTCGGTCGCGCTCACCACGTCGGAGAACGTCACGCCTGAGCGCAGCGGACACCAGATTTAGTCGTCTGCTCTTTTGGGCACCCGGGACGCAGGAGCTGGAGTCTCTCCCTCCCCTATTGCCTGCCAGGACGCTGACTTCCTCCTTCAGCCTTCTCATCGGCTCCCACCCTCTTCCAAGGGACCCTGACCCCTAGCCTGTGAAAGTTGGTGGCAGCCAACTGGGAAAGGGGGAGGAGGCCCGGAGCCGCATCCTCCAGGCTCCAGAAGCACTGGCCGGCCGGGAGGCTTTCCGGCATAACCCAGCTGGTGCCGCTAAGTTTCTTGGCAAATTCTCTTTGAGAGTTCCCAGGCCTGTACTATGTTCCCAGCATGATTAAGGAATAATCTGAACGTGGTTCCCACCCAGCCCTCCCCGCGGGCCAGAGCTGGGCTGCTAACCCGGTCCAGGCAAGGTAGGCCTTCCCCTAGGGAGCCTCCTGCCTCATCTGCCTTCAGTTCCTCTCCACACAGGTGTGGGCTCAGATGCAGCCTAAATGGGAGTGACCGGGGTTAGACAGCAGAATTTCCCACCCATGGCACTACCCCCATGCTGCTGAAGGGCTTGGATCCTGAGGGTGGGGACGGACCTGCAGGCAAGAGGGCTCAGGTAAGGCAGGAGCCACTGAAGCTAGAGAGCT)$ MNNGGKAEKENTPSEANLQEEEVRTLFVSGLPLDIKPRELYLLFRPFKGYEGSLIKLTSKQPVGFVSFDSRSEAEAAKNALNGIRFDPEIPQTLRLEFAKANTKMAKNKLVGTPNPSTPLPNTVPQFIAREP|* 11BR012 ENSG00000198265.12 ENSG00000108669.16 -/- -/- chr17:67178659 chr17:78709732 CDS/splice-site CDS/splice-site duplication 5 2 0 34 148 high out-of-frame . Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%)|PH_domain(100%),Sec7_domain(100%) . . ENSG00000198265.12 ENSG00000108669.16 ENST00000358691.10 ENST00000446868.7 upstream downstream . ^(GTGGGGACGTTGACAAGTGGATCCAAGATGGCGTAGAAAGTAATGACAG___GATTTGGATGAAGTAATGGATCACTAATGAACTACAGTGCTGGTGAGATGTGTAAG___AAATTATAAAGAGCTCTGATGGGCTATTTGGGTGATACCCAGTGCAGTGAACTGCAG___GATTTTTGTCCCTGAGTCATGGAAGACAGAAGAGCTGAAAAGTCATGTGAACAAGCATGTGAATCACTTAAGAGGCAGGACTATGAAATGGCCCTCAAGCACTGCACAGAGGCCCTTCTTTCTCTTGGCCAGTACTCCATGGCAGACTTCACAGGGCCTTGTCCATTGGAAATAGAACGCATCAAAATCGAGAGTCTTCTCTACAGAATTGCCTCATTTTTGCAACTG___AAAAATTATGTGCAAGCTGATGAAGATTGTAGACATG___TGCTGGGAGAAGGACTGGCCAAGGGAGAAGATGCCTTTCGGGCAGTGCTTTGCTGCATGCAGCTGAAAGGGAAGCTCCAACCTGTATCCACCATTCTTGCCAAGTCACTCACAGGAGAGTCCCTG___AATGGGATGGTAACAAAGGATTTGACAAGACTAAAAACACTTCTCTCAGAAACAGAG___ACAGCAACTAGTAACGCCCTCTCTGGATATCACGTGGAAGACTTAGATGAGG___GGTCTTGTAATGGTTGGCATTTCCGCCCACCACCTAGGGGAATCACAAGCAGCGAGGAATATACTTTGTGTAAAAG___ATTTTTAGAACAAGGAATCTGTAGGTATGGTGCCCAGTGTACTTCAGCACATTCCCAGGAAGAACTAGCAGAATGGCAGAAAAGATATGCTTCACGGCTGATAAAATTGAAACAGCAAAATGAGAATAAACAGCTCTCAGGCAGTTACATGGAAACCTTGATAGAAAAGTGGATGAATTCATTGTCTCCTGAGAAAGTG___CTTAGTGAATGTATAGAAGGAGTAAAGGTAGAGCACAATCCTGACCTGTCAGTTACTGTCAGCACCAAAAAATCCCACCAGACATGGACCTTTGCTCTCACTTGTAAG___CCTGCAAGAATGCTGTATCGTGTAGCATTGCTTTATGATGCTCATCGTCCTCATTTTAGTATCATTGCAATATCTGCCGGAGATAGTACTACCCAGGTATCACAAGAAGTCCCAGAAAACTGTCAAGAATGGATAGGAGGAAAGATGGCCCAAAATGGATTAGATCATTACGTGTATAAAGTCGGGATAGCATTTAACACAGAAATATTTGGAACTTTTCGCCAAACCATAGTTTTCGACTTTGGATTGGAACCAGTACTCATGCAAAGAGTAATGATTGATGCAGCTTCTACAGAAG___ATCTCGAATACCTGATGCATGCAAAACAGCAGCTAGTAACCACAGCTAAACGTTGGGATTCTTCCTCTAAGACTAT)TATAGATTTTGAACCTAATGAAACTACTGATTTGGAGAAGAGCCTTCTTATCAGATACCAAATTCCCCTCTCTGCTGACCAGCTATTTACTCAGTCCGTTTTAGACAAATCATTGACCAAGAGCAACTATCAGTCACGGTTACATGACCTTCTTTATATTGAGGAGATAGCCCAGTATAAAGAAATCAGCAA|TTCCCAGTGACCTGACAGCAGAGGAGCGTCAAGAACTGGAGAACATCCGACGGAGAAAACAGGAGCTGCTGGCTGACATTCAG___AGGCTGAAGGATGAGATAGCAGAAGTAGCTAATGAAATTGAAAACCTGGGATCCACAGAGGAAAG___GAAAAACATGCAGAGGAACAAACAGGTAGCCATGGGCA(GGAAAAAATTTAATATGGACCCTAAAAAG___GGGATCCAGTTCTTAATAGAGAACGACCTCCTGAAGAACACTTGTGAAGACATTGCCCAGTTCTTATATAAAGGCGAAGGGCTCAACAAGACAGCCATCGGCGACTACCTAGGGGAGAG___AGATGAGTTTAATATCCAGGTTCTTCATGCATTTGTGGAGCTGCATGAGTTCACTGATCTTAATCTCGTCCAGGCACTACG___GCAGTTCCTGTGGAGCTTCCGGCTACCCGGAGAGGCCCAGAAGATCGACCGGATGATGGAGGCGTTTGCCCAGCGATATTGTCAGTGCAATAATGGCGTGTTCCAGTCCACGG___ATACTTGTTACGTCCTCTCCTTTGCCATCATCATGTTGAACACCAGTCTGCACAACCCCAATGTCAAAGATAAGCCCACTGTGGAGAGGTTCATTGCCATGAACCGAGGCATCAATGATGGGGGAGACCTGCCGGAGGAGCTCCTCCGG___AATCTCTATGAGAGCATAAAAAATGAACCCTTTAAAATCCCAGAAGACGACGGGAATGACCTCACTCACACTTTCTTCAATCCAGACCGAGAAGGCTGGCTATTGAAACTCG___GAG___GTGGCAGGGTAAAGACTTGGAAGAGACGCTGGTTCATTCTGACTGACAACTGCCTTTACTACTTTGAGTATACCACG___GATAAGGAGCCCCGTGGAATCATCCCTTTAGAGAATCTGAGTATCCGGGAAGTGGAGGACTCCAAAAAACCA___AACTGCTTTGAGCTTTATATCCCCGACAATAAAGACCAAGTTATCAAGGCCTGCAAGACCGAGGCTGACGGGCGGGTGGTGGAGGGGAACCACACTGTTTACCGGATCTCAGCTCCGACGCCCGAGGAGAAGGAGGAGTGGATTAAGTGCATTAA___AGCAGCCATCAGCAGGGACCCTTTCTACGAAATGCTCGCAGCACGGAAAAAGAAGGTCTCCTCCACGAAGCGACACTGAGCGTGCAGCCAAGGGCGTTGGTCTGCGGGGGCCTTGGAGCTCCTGCTCTTCTCCCGCACCTCCATGGATGCACTGCTGCCGAGCAGAGCGTCCTCTGCCAGGCCCCGCCCTGGATTCCTAGAGACTAGCTTCAGCTTTTGCTATTTTTTTTAAGTGGGAGAAGGGTGGGCAGTTATCACTGGGGAAGAGAGGACCGGCCACCTGTCCAGCATGGGCTCCAGAGCCTTCCTCTCTCACAGGGCAGAGCTCTTGTCGGCAGGGCAGCCTCCTGGCCAGTTTCTCTGCTCAGTGTTCTGGTAGCAGAGCTCAGAGCCAACTGTTTACCTCTTGGTTGTCCCCGTGAAGAAGCCTTCAAACCCTGCACCATAAATACATGTGTCCATATATTATTATATGTTAAGAGAAAAAGGTGGAAAGGAAGAGAAGCCACATACTATAAAGATCTATTTTTTTTTTTTTAAGAGAGAACGTAGGGCTGTTCAGGTGCATTCTGCCCTGGCTGCGCTGGGGAGCTTCTCCCTGGAGAAGAGCACCTGGGGCTGCGGCCAAGGGGCATCAGCCTGGGCCCGCGGCAGGGCCTGGCCTGCCTCTCCTGTGCTGTGGGAGCTCGCTGCCTGGTGCTTGTCTGGGCGAGATGGACAGGTGAGGTCGAGGACGCAGAGGGCAGAGGCCCAGTGGAGCCTCAGACGGCACAGTCAGAGTCGGGGGCCTGCCCTGGCCGGGGTCGCAGTCGGCAGCAGCGTGCAGTCCGGCATCTCCCGCGGATGCTTTTCCATCCCAAGTGCCTGCGGAGCGCCGAGGAGAGGAGAGAGCTGACTGGACGCTTACGTTATTTTCCTCCTTCAGAATCCAAGTTCTTGTTGGGCTTTAAAGTAGAAAGTCAGCATTTTCCTTGAGCTAAATACCTAATAACCAAAACTGTGAGGAAGGTTATCGGGACAGAGGTTCCGGATAACCTGTTTCATTTTGGGTTTTCTTCCTCTTCCCCAGACTCCAGTCCTCGTTCTAGAGGAAGGAGTAGGACTTCCCCGATCCCCGTAGGGCTTCAGCTTTTTCTGCCTCAAAACCAGCCCTAACTGGACTACTCTGGATGCATTTTGTGGTGGGCCCCCTAGAGGGGAAGATGGGCCTTTATCTGCTCCGTGGGGTGCACTGGAGTGAGGGGGGTGGCCGGGCTGCCTCTCGCATCTCTGTCTTCCCCTGCAGGCGCTGTGTGAGCTGGCCCTGCCCCTCCTCATTACAGTATGAAGGGAGCCGTGACACGCAGCATTTTCCTGCCGTTCTCTCAGGGACTCTCAGGGCAGCTCCTGCCACTCCGCCAGGGCCAGCATGCCAGTCCAGGCAGAGCAGGTGGCTGGCTGTCTGGCCGTCTCGCCCCGCCCCTCCACAGGACCCTGGACCAGGGCGGTGCAGGGCGCAGCCCTGAGGAGGCAGGTGGAGGAGCTGCGGGTTTTCACAGGGCCGCGTCGCCACGGCTCCTCTGATCCTTTAGGGTTGGCGAGCATCTCTGGAAATAGCTTTTGCAGAGGAGTGGTGGGAGGAATAGAGGGGGACAGTCTGTCACCTCCCTCCCCGCCACTTTGTGTAGATCCTACCTGGAGGGAATGGCTTTAGGCACTTTTGTGCCAGAGCTTGTGAGGGTGACAGAAGAGGGTCCAGGCTGGAAACCTGAACTTTCTGGGTGGGAGAACCAGGTGGTGCCTGCCGAGGTCTGGGCGTGTTTGGGCCGGTGCTGGAGCCTGTCCAGCTGGCCCGGGCCCTGGCCTGGTTCTCAAGTGTTTCCTAGACAGAGAGGCACCTGGGTCAGTATTAGTCTATTTATCAGAGGTGTAAATAATCTATGTATAGTTTTTCTCCTTTTAGATTATTTTGTATTTGTTTAAAAGAAGTTTTGTCAAAATACAAAAATATAAAGAAATGACTGAAAGTTGTTGACAGGGTTTTTAAGAAATAATTATTCTAATTGTTTTTGTTTGTTTGTTTTTGCCTTGTAAACTAGCGCCAAGGAACTGCAGCAAATAAACTCCAACTCTGCCCAAGCCA)$ MEDRRAEKSCEQACESLKRQDYEMALKHCTEALLSLGQYSMADFTGPCPLEIERIKIESLLYRIASFLQLKNYVQADEDCRHVLGEGLAKGEDAFRAVLCCMQLKGKLQPVSTILAKSLTGESLNGMVTKDLTRLKTLLSETETATSNALSGYHVEDLDEGSCNGWHFRPPPRGITSSEEYTLCKRFLEQGICRYGAQCTSAHSQEELAEWQKRYASRLIKLKQQNENKQLSGSYMETLIEKWMNSLSPEKVLSECIEGVKVEHNPDLSVTVSTKKSHQTWTFALTCKPARMLYRVALLYDAHRPHFSIIAISAGDSTTQVSQEVPENCQEWIGGKMAQNGLDHYVYKVGIAFNTEIFGTFRQTIVFDFGLEPVLMQRVMIDAASTEDLEYLMHAKQQLVTTAKRWDSSSKTIIDFEPNETTDLEKSLLIRYQIPLSADQLFTQSVLDKSLTKSNYQSRLHDLLYIEEIAQYKEISn|sq* 11BR012 ENSG00000130382.9 ENSG00000110696.10(17553),ENSG00000166689.16(1404) -/- ./+ chr19:6262228 chr11:16775893 CDS/splice-site intergenic translocation 3 4 0 319 21 high out-of-frame . . . . ENSG00000130382.9 . ENST00000252674.9 . upstream upstream duplicates(1) ^(GCGCGACCCGGGCTGGCGGTGGTTTCCGGTTCCGCGGGGCTGGCGGGCGAGCGGGCGGCCGGGATCGGCGGCGGCGGCGGCGGCGGCGGCGCTTGACAGACAATGAGGGCGGCGGGGCGGCGTTGAGCGGCGGCGGCGGCGGCGGCGGCGGCGAGCGACGCGGGGCCCGGGGGCGGGGCGGGGCGCCAGCCATGGACAATCAG___TGCACCGTCCAGGTGAGGTTAGAGCTGGGGCATCGCGCCCAACTGCGCAAGAAGCCCACCACGGAGGG)GTTCACTCACGACTGGATGGTGTTTGTCCGCGGCCCCGAGCAATGTGACATCCAGCACTTCGTGGAGAAGGTGGTCTTCTGGCTGCACGACAGCTTCCCCAAGCCCAGACGCG___TGTGCAAGGAGCCCCCCTACAAAGTAGAGGAGTCGGGGTACGCTGGCTTCATCATGCCCATCGAGGTGCACTTCAAAAACAAG|ATATCCGGGGCTCAACCTGGACCTGCGTTAAAGTCAGAATTGAGGAGTGGACACCAGCAAACGGATGTAGAAGTGTGCTCACATCCCCTTCGTCAACTGCAATCTCGTTTAAGGCCCTGGGGTCTCCTGGAAGGGAAGTTGGAATCACGGGGCCACATGGCATTCCCTGGAGTCCTCCCCACCCTGTAGTGTCACCAGCC MDNQCTVQVRLELGHRAQLRKKPTTEGFTHDWMVFVRGPEQCDIQHFVEKVVFWLHDSFPKPRRVCKEPPYKVEESGYAGFIMPIEVHFKNK|isgaqpgpalkselrsghqqtdvevcshplrqlqsrlrpwgllegklesrghmafpgvlptl* 11BR012 ENSG00000278621.1 ENSG00000259345.7 -/- -/- chr15:39588397 chr15:39071608 exon exon/splice-site deletion 5 2 0 762 67 high . . . . . ENSG00000278621.1 ENSG00000259345.7 ENST00000616754.1 ENST00000561058.5 upstream downstream mismappers(1) ^(CAGTGTAAGATATTATAGGGTATAGGGAACCGATAACTTGTTGGGATTATGTTGTCCACCTGCATCTTAGAGCAATCAAATCGCTCAGGACTAACCAAGCTGGAATCTCCTCGAATGCTGACTGCAGCATTCAGTAAAAGAGCAAAGCTCCTGGGTCGTTTCATCCTGGGCTGCGTGGCTCACCAATTGGACAGTCCTGCTTGTTGCAGATCTGGTTTTCTGTTACATCACCAACGCAGTCCTTGCCTCCAAACTGGGGTGTGGGGTTGTTGCAGAGACGACTACGTTTCTGTACCCCTCCTCCACAGGTGACAGAA)CAGATGTCCCATGGTGACCAAGGACCCCAGCCTCCATTGACTGTAAGAAGATGAACCACAGGCAACAATTAAGATCAACTTTCAAATCCCTCCCTTGTCATAGACTCTCCTAAGCCCGTTCAAGAAACCTCTGCTTCTCTGACACATGGAAAGAATGCTGGGGAAGAGG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCG(AATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 11BR012 ENSG00000117523.16 ENSG00000253238.3 +/+ +/+ chr1:171527844 chr8:80482608 CDS/splice-site exon/splice-site translocation 4 2 0 157 13 high out-of-frame . . . . ENSG00000117523.16 ENSG00000253238.3 ENST00000367742.7 ENST00000644465.1 downstream upstream . ^(GCTCGCTCGCTCCCCCTCGGAAAGCTGCGAAAGTGCTTTGGCGGTTTGTCCATCCGCAGCTTCGGCTTTTCCAGTCTGGTGGCCCTTCCGGCCACCCCTTTAACCCCAGCTTTCCCTCCCCCTTCTTTCGATCAGAGATCGGCGGAGACCCTCGAAGTGCGCAAACTTGACACTCACCCTGACCG___GACTGGGGTTTTAAGGGGTGTGGCAGGAGGTTTTGGACTCGATGAGTTTCCACCGAAATGTCGGAGAAGTCAGGCCAGAGCACAAAAGCAAAGGATGGGAAAAAGTATGCAACACTCAGTTTATTTAATACTTACAAGGGGAAATCATTAGAAACACAGAAAACCACAG___TTGCAGCTCGACATGGATTACAGAGTCTTGGAAAAGTCGGTATTTCACGGCGTATGCCTCCACCTGCTAACCTCCCAAGTCTTAAAGCAGAAAACAAAGGCAATGATCCTAATGTAAACATTGTACCTAAAGATGGCACAGGGTGGGCATCAAAACAAGAGCAACATGAAGAAGAAAA___AACACCAGAAGTGCCACCAGCACAGCCAAAACCTGGGGTTGCAGCTCCCCCAGAAGTAGCACCTGCTCCCAAATCATGGGCCAGTAACAAGCAAGGTGGGCAAGGAGATG___GAATCCAAGTGAATAGTCAGTTTCAGCAAGAATTTCCCAGCCTGCAGGCAGCTGGGGATCAGGAAAAAAAAGAAAAGGAAACAAATGATGACAACTATGGACCTGGACCCAGTTTACGTCCACCAA___ATGTTGCTTGTTGGAGAGATGGTGGTAAGGCTGCTGGCTCACCTTCGTCATCTGATCAAGATGAAAAGCTCCCTGGCCAGGATGAAAGCACAGCTGGAACATCAGAGCAAAATGATATCCTCAAAGTGGTGGAAAAGAGGATAGCTTGTGGTCCTCCACAGGCTAAACTGAATGGACAGCAGGCTGCTCTCGCTTCCCAGTATAGAGCTATGATGCCTCCTTAT___ATGTTCCAACAGTATCCGAGGATGACATATCCTCCTCTACATGGTCCCATGAGATTCCCACCTTCTTTATCTGAAACAAACAA___AGGCCTTCGAGGAAGAGGCCCACCTCCTTCATGGGCCTCTGAGCCTGAACGCCCATCCATTCTTAGTGCATCAGAACTGAAGGAGCTTGATAAATTTGATAACCTAGATGCTGAAGCTGATGAAGGTTGGGCAG___GTGCTCAGATGGAAGTAGATTATACAGAGCAACTGAATTTCAGTGATGATGATGAAC)AAGGAAGTAACAGTCCTAAAGAGAATAACAG___TGAGGATCAAGGTTCAAAAGCCTCTGAAAACAACGAAAACAAAAAAGAAACAGATGAAGTTTCCAACACTAAATCATCTTCCCAAATACCTGCCCAACCATCAGTAGCAAAAGTTCCCTATGGGAAAGGACCTTCATTTAATCAG___GAACGTGGAACATCTTCACATCTGCCACCACCTCCAAAGTTGCTTGCACAGCAG|ACAGAAAGGCTACTGTCCCTAGAGCCTAAAGAGGCAAAGTACCTCTACCAAGGCAGTGAACGACAGTCAAGTTTGACCCTCAAAGATCAGCTGGGCCAGGTATAGAAG___ATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCTGGTTCAAGTGATTCTTCTACCTCAGCCTCCTGAG(TAGCTGGGATTATAGGCGAGCGCCACCACACCTGGCTAATTTTTTGAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCAGACCTCATGATCCGCCCGTCTCGGCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCAAAATAAAAATTTTTAAGTCCATTTTCATTTCCCATCACCTTGATCCTAGATAAGTAATTAACTTCAGTAACTCTTCCCTCTTTTTATGGGGGTGGAGGCTGTGGTGATTAACATATAATAAATGTATTTATTTTCAAAATGCCTAGAATGAAAAAAAAACACGCATTAAAAACAGAGCACAAGTATTATTATGGCATTCTTCCATATGTGGCACATATTATACAGCCTCACTTGGCAGAGTTCTCTTATTTCTTAAGGGTACGAATTAGGTCAAGATCAGACTCCACTGTCTTAAGCTTCCCAGCAACTAAAACAAAGCAGGACAAAACAAACAAACAAACAAACAAAAACACCCTACAACTGTACCCACCTGAAGAACTATATCAGAATTTCAAGCTCTTGGTCACTGGTGGCCAGGTGACAATATGTTTATTACCGGAAAAATAACTCAAAGCCAAAA)$ MSEKSGQSTKAKDGKKYATLSLFNTYKGKSLETQKTTVAARHGLQSLGKVGISRRMPPPANLPSLKAENKGNDPNVNIVPKDGTGWASKQEQHEEEKTPEVPPAQPKPGVAAPPEVAPAPKSWASNKQGGQGDGIQVNSQFQQEFPSLQAAGDQEKKEKETNDDNYGPGPSLRPPNVACWRDGGKAAGSPSSSDQDEKLPGQDESTAGTSEQNDILKVVEKRIACGPPQAKLNGQQAALASQYRAMMPPYMFQQYPRMTYPPLHGPMRFPPSLSETNKGLRGRGPPPSWASEPERPSILSASELKELDKFDNLDAEADEGWAGAQMEVDYTEQLNFSDDDEQGSNSPKENNSEDQGSKASENNENKKETDEVSNTKSSSQIPAQPSVAKVPYGKGPSFNQERGTSSHLPPPPKLLAQQ|terllslepkeakylyqgserqssltlkdqlgqv* 11BR012 ENSG00000117523.16 ENSG00000253238.3 +/+ +/+ chr1:171527844 chr8:80483580 CDS/splice-site exon/splice-site translocation 0 3 0 157 16 medium out-of-frame . . . . ENSG00000117523.16 ENSG00000253238.3 ENST00000367742.7 ENST00000644465.1 downstream upstream mismappers(2) ^(GCTCGCTCGCTCCCCCTCGGAAAGCTGCGAAAGTGCTTTGGCGGTTTGTCCATCCGCAGCTTCGGCTTTTCCAGTCTGGTGGCCCTTCCGGCCACCCCTTTAACCCCAGCTTTCCCTCCCCCTTCTTTCGATCAGAGATCGGCGGAGACCCTCGAAGTGCGCAAACTTGACACTCACCCTGACCG___GACTGGGGTTTTAAGGGGTGTGGCAGGAGGTTTTGGACTCGATGAGTTTCCACCGAAATGTCGGAGAAGTCAGGCCAGAGCACAAAAGCAAAGGATGGGAAAAAGTATGCAACACTCAGTTTATTTAATACTTACAAGGGGAAATCATTAGAAACACAGAAAACCACAG___TTGCAGCTCGACATGGATTACAGAGTCTTGGAAAAGTCGGTATTTCACGGCGTATGCCTCCACCTGCTAACCTCCCAAGTCTTAAAGCAGAAAACAAAGGCAATGATCCTAATGTAAACATTGTACCTAAAGATGGCACAGGGTGGGCATCAAAACAAGAGCAACATGAAGAAGAAAA___AACACCAGAAGTGCCACCAGCACAGCCAAAACCTGGGGTTGCAGCTCCCCCAGAAGTAGCACCTGCTCCCAAATCATGGGCCAGTAACAAGCAAGGTGGGCAAGGAGATG___GAATCCAAGTGAATAGTCAGTTTCAGCAAGAATTTCCCAGCCTGCAGGCAGCTGGGGATCAGGAAAAAAAAGAAAAGGAAACAAATGATGACAACTATGGACCTGGACCCAGTTTACGTCCACCAA___ATGTTGCTTGTTGGAGAGATGGTGGTAAGGCTGCTGGCTCACCTTCGTCATCTGATCAAGATGAAAAGCTCCCTGGCCAGGATGAAAGCACAGCTGGAACATCAGAGCAAAATGATATCCTCAAAGTGGTGGAAAAGAGGATAGCTTGTGGTCCTCCACAGGCTAAACTGAATGGACAGCAGGCTGCTCTCGCTTCCCAGTATAGAGCTATGATGCCTCCTTAT___ATGTTCCAACAGTATCCGAGGATGACATATCCTCCTCTACATGGTCCCATGAGATTCCCACCTTCTTTATCTGAAACAAACAA___AGGCCTTCGAGGAAGAGGCCCACCTCCTTCATGGGCCTCTGAGCCTGAACGCCCATCCATTCTTAGTGCATCAGAACTGAAGGAGCTTGATAAATTTGATAACCTAGATGCTGAAGCTGATGAAGGTTGGGCAG___GTG)CTCAGATGGAAGTAGATTATACAGAGCAACTGAATTTCAGTGATGATGATGAACAAGGAAGTAACAGTCCTAAAGAGAATAACAG___TGAGGATCAAGGTTCAAAAGCCTCTGAAAACAACGAAAACAAAAAAGAAACAGATGAAGTTTCCAACACTAAATCATCTTCCCAAATACCTGCCCAACCATCAGTAGCAAAAGTTCCCTATGGGAAAGGACCTTCATTTAATCAG___GAACGTGGAACATCTTCACATCTGCCACCACCTCCAAAGTTGCTTGCACAGCAG|ATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCTGGTTCAAGTGATTCTTCTACCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGAGCGCCACCACACCTGGCTAATTTTTTGAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGG(CTGGTCTTGAACTCCAGACCTCATGATCCGCCCGTCTCGGCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCAAAATAAAAATTTTTAAGTCCATTTTCATTTCCCATCACCTTGATCCTAGATAAGTAATTAACTTCAGTAACTCTTCCCTCTTTTTATGGGGGTGGAGGCTGTGGTGATTAACATATAATAAATGTATTTATTTTCAAAATGCCTAGAATGAAAAAAAAACACGCATTAAAAACAGAGCACAAGTATTATTATGGCATTCTTCCATATGTGGCACATATTATACAGCCTCACTTGGCAGAGTTCTCTTATTTCTTAAGGGTACGAATTAGGTCAAGATCAGACTCCACTGTCTTAAGCTTCCCAGCAACTAAAACAAAGCAGGACAAAACAAACAAACAAACAAACAAAAACACCCTACAACTGTACCCACCTGAAGAACTATATCAGAATTTCAAGCTCTTGGTCACTGGTGGCCAGGTGACAATATGTTTATTACCGGAAAAATAACTCAAAGCCAAAA)$ MSEKSGQSTKAKDGKKYATLSLFNTYKGKSLETQKTTVAARHGLQSLGKVGISRRMPPPANLPSLKAENKGNDPNVNIVPKDGTGWASKQEQHEEEKTPEVPPAQPKPGVAAPPEVAPAPKSWASNKQGGQGDGIQVNSQFQQEFPSLQAAGDQEKKEKETNDDNYGPGPSLRPPNVACWRDGGKAAGSPSSSDQDEKLPGQDESTAGTSEQNDILKVVEKRIACGPPQAKLNGQQAALASQYRAMMPPYMFQQYPRMTYPPLHGPMRFPPSLSETNKGLRGRGPPPSWASEPERPSILSASELKELDKFDNLDAEADEGWAGAQMEVDYTEQLNFSDDDEQGSNSPKENNSEDQGSKASENNENKKETDEVSNTKSSSQIPAQPSVAKVPYGKGPSFNQERGTSSHLPPPPKLLAQQ|mesrsvaqagvqwhdlsslqppplwfk* 11BR012 ENSG00000165102.15 ENSG00000254306.1 +/+ -/- chr8:43147063 chr8:37603419 CDS/splice-site exon/splice-site inversion 4 2 0 145 6 high out-of-frame . . . . ENSG00000165102.15 ENSG00000254306.1 ENST00000379644.9 ENST00000517714.1 downstream downstream . ^(GGGCAGGCAAGGGCGGCCGAGCGGGCGGCGGGCATGAGCGGGGCGGGCAGGGCGCTGGCCGCGCTGCTGCTGGCCGCGTCCGTGCTGAGCGCCGCGCTGCTGGCCCCCGGCGGCTCTTCGGGGCGCGATGCCCAGGCCGCGCCGCCA)CGAG___ACTTAGACAAAAAAAGACATGCAGAGCTGAAGATGGATCAGGCTTTGCTACTCATCCATAATGAACTTCTCTGGACCAACTTGACCGTCTACTGGAAATCTGAATGCTGTTATCAC|GCACCATCCACTTGGCTCTGGACGACGCCCTGCCTGGCTGAGCTGCCCTGGGAGCTGTCAACACGGGTGTGCGTGCTG___GGTCTCTCTCTCTGTTGCCTGGGCTGGAGTCCAGTGGCATG(ATTCCAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCTGCTGCAGTCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCGTGCCCAGCTAAGTTTTTTTTTTTTAGTTTATATGGGGTCTCACTATGTTGCCCAACCT)$ MSGAGRALAALLLAASVLSAALLAPGGSSGRDAQAAPPRDLDKKRHAELKMDQALLLIHNELLWTNLTVYWKSECCYH|apstwlwttpclaelpwelstrvcvlglslcclgwspva* 11BR012 ENSG00000062716.13 ENSG00000007314.12 +/+ -/- chr17:59731522 chr17:63971850 CDS/splice-site CDS/splice-site inversion 3 3 0 532 10 high out-of-frame . |Ion_transport_protein(100%),Sodium_ion_transport-associated(100%) . . ENSG00000062716.13 ENSG00000007314.12 ENST00000262291.9 ENST00000435607.3 downstream downstream . ^(GGGTTCCGGTTGTCTGGAGCCCAGCGGCGGGTGTGAGAGTCCGTAAGGAGCAGCTT)CCAGGATCCTGAGATCCGGAGCAGCCGGGGTCGGAGCGG___CTCCTCAAGAGTTACTGATCTATGAAATGGCAGAGAATGGAAAAAATTGTGACCAGAGACGTGTAGCAATGAACAAGGAACATCATAATGGAAATTTCACAG|GTACACCTTCACAGGGATCTACACCTTTGAGTCCCTCATCAAGATACTGGCCCGAGGCTTCTGTGTCGACGACTTCACATTCCTCCGGGACCCCTGGAACTGGCTGGACTTCAGTGTCATCATGATGGC___GTACCTGACAGAGTTTGTGGACTTGGGCAACATCTCAGCCCTGAGGACCTTCCGGGTGCTGCGGGCCCTCAAAACCATCAC(GGTCATCCCAG___GGCTGAAGACGATCGTGGGGGCCCTGATCCAGTCGGTGAAAAAGCTGTCGGATGTGATGATCCTCACTGTCTTCTGCCTGAGCGTCTTTGCGCTGGTAGGACTGCAGCTCTTCATGGGAAACCTGAGGCAGAAGTGTGTGCGCTGGCCCCCGCCGTTCAACGACACCAACACCACGTGGTACAGCAATGACACGTGGTACGGCAATGACACATGGTATGGCAATGAGATGTGGTACGGCAATGACTCATGGTATGCCAACGACACGTGGAACAGCCATGCAAGCTGGGCCACCAACGATACCTTTGATTGGGACGCCTACATCAGTGATGAAG___GGAACTTCTACTTCCTGGAGGGCTCCAACGATGCCCTGCTCTGTGGGAACAGCAGTGATGCTGG___GCACTGCCCTGAGGGTTATGAGTGCATCAAGACCGGGCGGAACCCCAACTATGGCTACACCAGCTATGACACCTTCAGCTGGGCCTTCTTGGCTCTCTTCCGCCTCATGACACAGGACTATTGGGAGAACCTCTTCCAGCTG___ACCCTTCGAGCAGCTGGCAAGACCTACATGATCTTCTTCGTGGTCATCATCTTCCTGGGCTCTTTCTACCTCATCAATCTGATCCTGGCCGTGGTGGCCATGGCATATGCCGAGCAGAATGAGGCCACCCTGGCCGAGGATAAGGAGAAAGAGGAGGAGTTTCAGCAGATGCTTGAGAAGTTCAAAAAGCACCAGGAGGAGCTGGAGAAG___GCCAAGGCCGCCCAAGCTCTGGAAGGTGGGGAGGCAGATGGGGACCCAGCCCATGGCAAAGACTGCAATGGCAGCCTGGACACATCGCAAGGGGAGAAGGGAGCCCCGAGGCAGAGCAGCAGCGGAGACAGCGGCATCTCCGACGCCATGGAAG___AACTGGAAGAGGCCCACCAAAAGTGCCCACCATGGTGGTACAAGTGCGCCCACAAAGTGCTCATATGGAACTGCTGCGCCCCGTGGCTGAAGTTCAAGAACATCATCCACCTGATCGTCATGGACCCGTTCGTGGACCTGGGCATCACCATCTGCATCGTGCTCAACACCCTCTTCATGGCCATGGAACATTACCCCATGACGGAGCACTTTGACAACGTGCTCACTGTGGGCAACCTG___GTCTTCACAGGCATCTTCACAGCAGAGATGGTTCTGAAGCTGATTGCCATGGACCCCTACGAGTATTTCCAGCAGGGTTGGAATATCTTCGACAGCATCATCGTCACCCTCAGCCTGGTAGAGCTAGGCCTGGCCAACGTACAGGGACTGTCTGTGCTACGCTCCTTCCGTCTG___CTGCGGGTCTTCAAGCTGGCCAAGTCGTGGCCAACGCTGAACATGCTCATCAAGATCATTGGCAATTCAGTGGGGGCGCTGGGTAACCTGACGCTGGTGCTGGCTATCATCGTGTTCATCTTCGCCGTGGTGGGCATGCAGCTGTTTGGCAAGAGCTACAAGGAGTGCGTGTGCAAGATTGCCTTGGACTGCAACCTGCCGCGCTGGCACATGCATGATTTCTTCCACTCCTTCCTCATCGTCTTCCGCATCCTGTGCGGGGAGTGGATCGAGACCATGTGGGACTGCATGGAGGTGGCCGGCCAAGCCATGTGCCTCACCGTCTTCCTCATGGTCATGGTCATCGGCAATCTTGTG___GTCCTGAACCTGTTCCTGGCTCTGCTGCTGAGCTCCTTCAGCGCCGACAGTCTGGCAGCCTCGGATGAGGATGGCGAGATGAACAACCTGCAGATTGCCATCGGGCGCATCAAGTTGGGCATCGGCTTTGCCAAGGCCTTCCTCCTGGGGCTGCTGCATGGCAAGATCCTGAGCCCCAAGGACATCATGCTCAGCCTCGGGGAGGCTGACGGGGCCGGGGAGGCTGGAGAGGCGGGGGAGACTGCCCCCGAGGATGAGAAGAAGGAGCCGCCCGAGGAGGACCTGAAGAAGGACAATCACATCCTGAACCACATGGGCCTGGCTGACGGCCCCCCATCCAGCCTCGAGCTGGACCACCTTAACTTCATCAACAACCCCTACCTGACCATACAGGTGCCCATCGCCTCCGAGGAGTCCGACCTGGAGATGCCCACCGAGGAGGAAACCGACACTTTCTCAGAGCCTGAGGATAGCAAG___AAGCCGCCGCAGCCTCTCTATGATGGGAACTCGTCCGTCTGCAGCACAGCTGACTACAAGCCCCCCGAGGAGGACCCTGAGGAGCAGGCAGAGGAGAACCCCGAGGGGGAGCAGCCTGAGGAGTGCTTCACTGAGG___CCTGCGTGCAGCGCTGGCCCTGCCTCTACGTGGACATCTCCCAGGGCCGTGGGAAGAAGTGGTGGACTCTGCGCAGGGCCTGCTTCAAGATTGTCGAGCACAACTGGTTCGAGACCTTCATTGTCTTCATGATCCTGCTCAGCAGTGGGGCTCTG___GCCTTCGAGGACATCTACATTGAGCAGCGGCGAGTCATTCGCACCATCCTAGAATATGCCGACAAGGTCTTCACCTACATCTTCATCATGGAGATGCTGCTCAAATGGGTGGCCTACGGCTTTAAGGTGTACTTCACCAACGCCTGGTGCTGGCTCGACTTCCTCATCGTGGAT___GTCTCCATCATCAGCTTGGTGGCCAACTGGCTGGGCTACTCGGAGCTGGGACCCATCAAATCCCTGCGGACACTGCGGGCCCTGCGTCCCCTGAGGGCACTGTCCCGATTCGAGGGCATGAGG___GTGGTGGTGAACGCCCTCCTAGGCGCCATCCCCTCCATCATGAATGTGCTGCTTGTCTGCCTCATCTTCTGGCTGATCTTCAGCATCATGGGTGTCAACCTGTTTGCCGGCAAGTTCTACTACTGCATCAACACCACCACCTCTGAGAGGTTCGACATCTCCGAGGTCAACAACAAGTCTGAGTGCGAGAGCCTCATGCACACAGGCCAGGTCCGCTGGCTCAATGTCAAGGTCAACTACGACAACGTGGGTCTGGGCTACCTCTCCCTCCTGCAGGTG___GCCACCTTCAAGGGTTGGATGGACATCATGTATGCAGCCGTGGACTCCCGGGAG___AAGGAGGAGCAGCCGCAGTACGAGGTGAACCTCTACATGTACCTCTACTTTGTCATCTTCATCATCTTTGGCTCCTTCTTCACCCTCAACCTCTTCATTGGCGTCATCATTGACAACTTCAACCAGCAGAAGAAGAAG___TTAGGGGGGAAAGACATCTTTATGACGGAGGAACAGAAGAAATACTATAACGCCATGAAGAAGCTTGGCTCCAAGAAGCCTCAGAAGCCAATTCCCCGGCCCCAG___AACAAGATCCAGGGCATGGTGTATGACCTCGTGACGAAGCAGGCCTTCGACATCACCATCATGATCCTCATCTGCCTCAACATGGTCACCATGATGGTGGAGACAGACAACCAGAGCCAGCTCAAGGTGGACATCCTGTACAACATCAACATGATCTTCATCATCATCTTCACAGGGGAGTGCGTGCTCAAGATGCTCGCCCTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGACTTCGTGGTCGTCATCCTGTCCATTGTGG___GCCTTGCCCTCTCTGACCTGATCCAGAAGTACTTCGTGTCACCCACGCTGTTCCGTGTGATCCGCCTGGCGCGGATTGGGCGTGTCCTGCGGCTGATCCGCGGGGCCAAGGGCATCCGGACGCTGCTGTTCGCCCTCATGATGTCGCTGCCTGCCCTCTTCAACATCGGCCTCCTCCTCTTCCTGGTCATGTTCATCTACTCCATCTTCGGCATGTCCAACTTTGCCTACGTCAAGAAGGAGTCGGGCATCGATGATATGTTCAACTTCGAGACCTTCGGCAACAGCATCATCTGCCTGTTCGAGATCACCACGTCGGCCGGCTGGGACGGGCTCCTCAACCCCATCCTCAACAGCGGGCCCCCAGACTGTGACCCCAACCTGGAGAACCCGGGCACCAGTGTCAAGGGTGACTGCGGCAACCCCTCCATCGGCATCTGCTTCTTCTGCAGCTATATCATCATCTCCTTCCTCATCGTGGTCAACATGTACATCGCCATCATCCTGGAGAACTTCAATGTGGCCACAGAGGAGAGCAGCGAGCCCCTTGGTGAAGATGACTTTGAGATGTTCTACGAGACATGGGAGAAGTTCGACCCCGACGCCACCCAGTTCATCGCCTACAGCCGCCTCTCAGACTTCGTGGACACCCTGCAGGAACCGCTGAGGATTGCCAAGCCCAACAAGATCAAGCTCATCACACTGGACTTGCCCATGGTGCCAGGGGACAAGATCCACTGCCTGGACATCCTCTTTGCCCTGACCAAAGAGGTCCTGGGTGACTCTGGGGAAATGGACGCCCTCAAGCAGACCATGGAGGAGAAGTTCATGGCAGCCAACCCCTCCAAGGTGTCCTACGAGCCCATCACCACCACCCTCAAGAGGAAGCACGAGGAGGTGTGCGCCATCAAGATCCAGAGGGCCTACCGCCGGCACCTGCTACAGCGCTCCATGAAGCAGGCATCCTACATGTACCGCCACAGCCACGACGGCAGCGGGGATGACGCCCCTGAGAAGGAGGGGCTGCTTGCCAACACCATGAGCAAGATGTATGGCCACGAGAATGGGAACAGCAGCTCGCCAAGCCCGGAGGAGAAGGGCGAGGCAGGGGACGCCGGACCCACTATGGGGCTGATGCCCATCAGCCCCTCAGACACTGCCTGGCCTCCCGCCCCTCCCCCAGGGCAGACTGTGCGCCCAGGTGTCAAGGAGTCTCTTGTCTAGCAGGCAGCATCGGGGTGGCCCACTGAGTCTCGGCATAGTCCCCAGAGCTCCCCCGTGGTGCCTGCACACAGAGTGAGGGAGGAGGGCTTTGAATCTGGGACTGTGCCTGGCTCCCTGATGGGGGACAGGATTTGGCCACACTGGGGCTGACACCCAGGCCCGAGCGCCTGCGTTCCCAGACCATGGGAAATGGGAATTGCGCTCAGGGGCTCCATGCTGGGTCTGAGGCCCCTGCCTCCAAGATTTAACCTGCAAGTTGCTCTGACCTCCTCTGGGCCCTGTCGCCCCTCCTTTTGGCCTGGGGGAGGTCAGAACATTCGAATCTCTGCCCCTCACTTGAGGAGGAGCTGGCCTGCGGTGGAGGGATCAGTTGCCCCCCATCACCAGAGTCTTAAGGGTCACTGGCCTCTCCCCAGGAAGTGGCTCAGACCCCTCAGCCCCAGCCCAGACAAAGATGTCTTAACCTCAGGGAGTGCAGACACCTAACCCCAGGGCACTGCCAGCCCACCCCCTTTGACTCTGGGGTGCAGCTTCACCCACCAGGCCAGCTCAGGAATTCCCTGGAAAAGGGAAATGTGACTGGTTCAGAAATAGCTCCTCAAAGCCTCAAAACCTGATTGGCCACTGGATCCTGCTGCTTTGGGCTGGGATGGTGACTCCTGAAACCTCTTCCTAGGCCACGTCCAGGTCCGTAGCTCCCCTGGCTGGCTCCTAGGGGAAGAGCAGAAGGAAGGATGCCACTTGGGAATGAATTGTCCTTTTCTAGGAAGCACGGGGGAGTGAGACAGGCTGGGTCCTGCCAGCTGGATCGCTGCACATGGCCTGAGCATCCAGACCTGAGCGGGAGTCAGGGACCTGCTGCTCAGTAAGAAGATTCTCGCCCCTTCCCTCTCTCCCTGCCTCACTCCTCCGTGAGCACCACCAGGGCTCCAGGAGCCTCATCCAGCCTCAGAGATCTCCCTTCTCATCTCCCCACGCCCGTCTCTTTCTCACCTTTCCCACCTCTCTCCCCAAAGTGATCCTAAGAATGTACAGTTGAGCTCAGGTTAGATATTTCGACCCTGGGGCGTGCAGCAGGGAAGGCCCAACTGGTTCAGGCTCAACCTTCCAACTTCCTGTGGCCTGAAGAAGCACTTCTGCTGCATCGCTGTTCTGGGCATGGCAGGGCCAGGCCTCTGCTGGCTCAGGAGGAGGGGTGAGAGACCTGCTCAGGCGTCGCTGGATTTATTCACTTGTGTGTGTACCTGTGGCTGTGTGTCTGCTTGTATGCTTTTATAGGCCTGTGTGTATAGCTGTGTGTGTGTTCAAGTGCGTGACTGTATGTGTGTGTGTGAACCACTGTGTACTGGAGCCTGCATTATGCACGTGTCTGGGTATCTTTGTATATATGTGTATATATGTGTGCCCTGGACTGTTTCAAGGTCCATGGAGTACGGCTGGTGTGTCATACTGTGCAGGCCTGTCCCTGGGAGTGTTCCCGTGCCTGGGAGAGTGGACCTGTGCTGTGAGTGTGTGGATGCGTGTGAACGCATGTGGTAAGGTGTGTACTCAGGGCATTCTGTTGGCCTAAGTGCCTCTTCTTTTTCTTCTTGTTTCTCATGAAAAGTTTGATTAAAATTCAGGAAGCAGCAAAACCTTCAAAACAAGACATGTATGTGTGCTTGAGTGTGTGAACACGTGTGTGTGTGTGCACATCTACATGCCATGCCTATGGGCCAGAGTTGTCTTTATTGTCCACCATGCTCTCTCACCTGCTCCCAGTCCTGCCTGAACAGCCCTCTCTCTCACTCCCCTCTCCTCCCCTTCCTGTTTCTCGTTGTCACACCCATGGCCTCAGCCCTGCTCCCTGCCTCCTGCCTATGTCTCCTCTATGGAAGGAGGCCTCCACTCCTTCCATCTCTTCCTTCAGAAGTTTCGTCTAATGGGGGCAGTCTCCCCTTCCTGGCACATTGCCCCTCTGCCTTGCCCTCCTGGGCCCTGGGCTGGCACAGCCCCTGGAGCCTCAGAAATCTGTTTGATTGGATATTCTCCTCGGACTGTGTGCAGGTTGCAGAGGAAGAGTAGATGAGCCGGGTCCGGCCTCTCCCTGCCTGTGGCCCCTCCCCTGCAGACGGATGCCCATTCCTGCCTGGTCCAGTGGGGAACAGGTCCCACGCCAGGCCAGCAGGCGGGCTCCTTTGTACAGTTCTTACAATAAACCCTCCTTGGTGCCTCTGG)$ MAENGKNCDQRRVAMNKEHHNGNFT|gtpsqgstplspssrywpeasvsttshssgtpgtgwtsvss* 11BR012 ENSG00000147536.12 ENSG00000254689.3(91449),ENSG00000254394.2(17736) +/+ ./- chr8:41530298 chr8:82015797 CDS/splice-site intergenic inversion 2 2 0 19 3 high out-of-frame . . . . ENSG00000147536.12 . ENST00000518671.5 . downstream downstream . ^(CGGGAGCTGAGAAGTTGCAGGGTTGAGTTGGTCCCGGCAAGTCCTTGAGCA)GTTTGTTCCTCTGTCTTCCCGCTTCCTGGTGCCCCGACTGCGTCCCCACGAACGCCCCGTCCTTACCGCCGGCTGCTGTGGAGTGCCTCGCTGTCTCCCAG___GTTCCTGGTTTCAGAGAAGATGACCGAAGAAGTGGATTTCCTGGGACAGGACTCTGATGGGGGTAGTGAGGAAGTGGTCCTAACTCCTGCAGAGCTCATTGAAAGATTGGAGCAG|CCAACTGTGGGAGACAAGAATGGAGGCACATATGCCCATAGAGCATG___AATGTCTTCAACAAGAGTACATCCCGCTTCCAAAAAAAATCAAGAACCACGACTGTTTGTTTCAACATATTCCACCATGTACCCAACACCTAGCTGCATACTGGGCAGACAGTAG MTEEVDFLGQDSDGGSEEVVLTPAELIERLEQ|ptvgdknggtyahra* 11BR012 ENSG00000164823.11 ENSG00000121104.8 +/+ -/- chr8:89921171 chr17:49773457 CDS/splice-site intron translocation 3 1 0 77 9 high out-of-frame . |Protein_Family_FAM117(100%) . . ENSG00000164823.11 ENSG00000121104.8 ENST00000297438.6 . downstream downstream mismappers(1) ^(GGTGTGGTCTGGGGCGGGCCTGATGAGCACCTGGATTTTCACCCGGCGTGCTGGTAATTCCTACACTTGTGGGTGTTTGAGAGACATGAAGAGGGGAGGATGACCTCTTCCCGGAAGCGGGACTTCCATAAAAGAAGCGTGGTGGGCGGGTCCCGGGCACCTGTGGTTTGGTGAGTCCTCCAGGTAACTGTGATGCGGGGGTCAGCGGGAGAGGCACCCGGAAGCTCCCGGCGTCTGCACCCCGGCAGCGCGAGGAAATGCCCAAAG___AAACTATAGTGACACTGAAACTGAAGGAGAGATTTTTAATTCCTTAGTGCAATACTTTGGTGACAACTTGGGGCGAAAAGTTAAAGCGATGCCATTAGTTGAAGAAACTTCTTTACTGGAAGATTCGTCAGTGACTTTTCCTGTGGTAATAATAG___GAAATGGACCCTCAGGAATATGCCTTTCTTATATGTTATCAGGCTACAGACCGTATTTATCATCAGAAGCAATACACCCAAATACAATCTTAAATAGTAAATTAGAAGAAGCAAGACATCTTTCCATTGTTGATCAG___GACTTAGAATACTTGTCTGAGGGCCTTGAGGGCCGATCATCCAATCCAGTTGCAGTACTTTTCGATACACTTCTTCATCCAGATGCTGACTTTGGGTATGATTATCCATCCGTTTTGCATTGGAAATTAGAG)CAACATCATTATATCCCTCACGTAGTTCTTGGTAAAGGTCCACCTGGTGGGGCTTGGCAT___AATATGGAAGGCTCCATGTTGACAATCAGCTTTGGAAGTTGGATGGAACTACCTGGACTTAAATTTAAGGACTGGGTATCAAGTAAACGAAG|TCTTGCTCTGCTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTACAACTTCCGTCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACTACGCCTGGCTAATTTTTTGTTTTGTTTTGAGACAGTCTCACTCTGTCGCCCAGGCTGGAGTGC MPLVEETSLLEDSSVTFPVVIIGNGPSGICLSYMLSGYRPYLSSEAIHPNTILNSKLEEARHLSIVDQDLEYLSEGLEGRSSNPVAVLFDTLLHPDADFGYDYPSVLHWKLEQHHYIPHVVLGKGPPGGAWHNMEGSMLTISFGSWMELPGLKFKDWVSSKRs|lallprlecsgvisahynfrlpgsrdspasas* 11BR012 ENSG00000165102.15 ENSG00000253344.1 +/+ -/- chr8:43147063 chr8:37633346 CDS/splice-site intron inversion 1 3 0 145 18 high out-of-frame . . . . ENSG00000165102.15 ENSG00000253344.1 ENST00000379644.9 . downstream downstream . ^(GGGCAGGCAAGGGCGGCCGAGCGGGCGGCGGGCATGAGCGGGGCGGGCAGGGCGCTGGCCGCGCTGCTGCTGGCCGCGTCCGTGCTGAGCGCCGCGCTGCTGGCCCCCGGCGGCTCTTCG)GGGCGCGATGCCCAGGCCGCGCCGCCACGAG___ACTTAGACAAAAAAAGACATGCAGAGCTGAAGATGGATCAGGCTTTGCTACTCATCCATAATGAACTTCTCTGGACCAACTTGACCGTCTACTGGAAATCTGAATGCTGTTATCAC|AAATCTTTCAAGAAAAAGTCTCATTTGAAAATCTTTCACATCTTGTGAGGATGAATAAAAGACAGAATGTCAACTTTGCCGCCTTAAAATTTCAAAAAGAGGAAACATTCCAAAATCGCATACAGCATCCATGATACATGATCCTTGATCCAGACATAAAAGAGAATATAAAAATGAAGAAAAGAGACGCTGTTAGAGAAAAATGGGACTTCCCTCCAAAC MSGAGRALAALLLAASVLSAALLAPGGSSGRDAQAAPPRDLDKKRHAELKMDQALLLIHNELLWTNLTVYWKSECCYH|ksfkkkshlkifhil* 11BR012 ENSG00000141198.16 ENSG00000172057.10 +/+ -/- chr17:54950126 chr17:39924225 CDS/splice-site 5'UTR/splice-site inversion 3 1 0 97 333 high in-frame . GAT_domain(100%),VHS_domain(100%)| . . ENSG00000141198.16 ENSG00000172057.10 ENST00000445275.6 ENST00000304046.7 downstream downstream . ^(AGAGCCCGGGAAGCGCTCGGGCGAAGAGGAGGAGCCAAGGGTACCGAGCGGGTGGAGTCGGGAGCCGGAGAGCGGTGGAGGCGGATTTCCTGGGCCCGGCCCTCTGGCGCTACCATGGCGTTTGGCAAGAGTCACCGGGATCCCTACGCGACCTCCGTGGGCCACCTCATAG___AAAAGGCTACATTTGCTGGAGTTCAGACTGAAGATTGGGGCCAGTTCATGCACATCTGTGACATAATTAACACTACCCAGGATGG___GCCAAAAGATGCAGTGAAAGCTTTGAAGAAAAGGATTTCCAAAAACTACAATCATAAAGAAATCCAACTTACCTTGTCA___CTTATTGACATGTGTGTGCAGAACTGTGGTCCAAGTTTCCAGTCTCTGATTGTGAAGAAGGAATTTGTTAAAGAGAATTTAGTTAAGCTACTGAATCCCAGATACAACTTGCCATTAGACATTCAGAATAGAATCTTGAATTTCATTAAG___ACTTGGTCACAGGGCTTCCCAGGAGGTGTGGATGTAAGCGAAGTCAAAGAAGTATACCTCGACCTGGTTAAGAAAGGCGTTCAGTTTCCTCCCTCAGAAGCAGAGGCTGAAACAGCAAGACAAGAG___ACTGCTCAAATCTCATCAAATCCTCCAACATCTGTCCCTACTGCACCAGCTCTTTCTTCTGTAATTGCTCCAAAGAACTCGACTGTTACATTGGTCCCAGAACAG___ATTGGAAAACTGCACAGTGAATTGGATATGGTGAAAATGAATGTGCGAGTGATGTCCGCCATATTGATGGAGAATACTCCTGGGTCTGAAAACCATGAAGACATAGAGCTTCTGCAG___AAACTCTATAAAACAGGTCGGGAGATGCAGGAGAGGATCATGGACCTGCTTGTGGTGGTGGAGAACGAAGATGTAACTGTTGAGCTAATTCAGGTGAATGAGGATTTGAATAATGCTATCCTTGGATATGAGAG___GTTTACTAGAAACCAACAAAGGATTTTGGAGCAAAATAAGAACCAGAAGGAAGCCACCAAT___ACTACCAGTGAGCCTTCTGCCCCATCTCAAGATCTCCTCGACCTAAGTCCCAGTCCCCGGATGCCTAGGGCCACTCTGGGAGAACTCAACACCATGAATAATCAACTTTCAGGCTTAA___ATTTCAGCCTTCCAAGTTCTGATGTAACAAACAACTTAAAACCCAGTCTTCATCCACAGATGAACTTGCTAGCCTTGGAGAATACAGAGATACCCCC___GTTTGCCCAAAGGACCAGCCAAAACCTCACCTCAAGCCACGCATATGATAAT___CCA)GTTAGTCTACAAACCATTGCAGCAGCACCATCAAACCAGAGTCTGCCACCTTTGCCCAGCAATCATCCAG___CGATGACAAAAAGTGATCTCCAGCCACCTAATTACTACGAGGTAATGGAGTTTGATCCCTTAGCTCCTGCTGTCACTACAGA|AACAGCAGAGAGGGGCAGCAGGATGAATGTGGGCACAGCGCACAGCGAGGTGAACCCCAACACGCGGGTGATGAACAGCCGTGGCATCTGGCTCTCCTACGTGCTGGCCATCGGTCTCCTCCACATCGTGCTGCTGAG(CATCCCGTTTGTGAGTGTCCCTGTCGTCTGGACCCTCACCAACCTCATTCACAACATG___GGCATGTATATCTTCCTGCACACGGTGAAGGGGACACCCTTTGAGACCCCGGACCAGGGCAAGGCGAGGCTGCTAACCCACTGGGAGCAGATGGATTATGGGGTCCAGTTCACGGCCTCTCGGAAGTTCTTGACCATCACACCCATCGTGCT___GTACTTCCTCACCAGCTTCTACACTAAGTACGACCAGATCCATTTTGTGCTCAACACCGTGTCCCTGATGAGCGTGCTTATCCCCAAGCTGCCCCAGCTCCACGGAGTCCGGATTTTTGGAATCAATAAGTACTGAGAGTGCAGCCCCTTCCCCTGCCCAGGGTGGCAGGGGAGGGGTAGGGTAAAAGGCATGTGCTGCAACACTGAAGACAGAAAGAAGAAGCCTCTGGACACTGCCAGAGATGGGGGTTGAGCCTCTGGCCTAATTTCCCCCCTCGCTTCCCCCAGTAGCCAACTTGGAGTAGCTTGTAGTGGGGTTGGGGTAGGCCCCCTGGGCTCTGACCTTTTCTGAATTTTTTGATCTTTTCCTTTTGCTTTTTGAATAGAGACTCCATGGAGTTGGTCATGGAATGGGCTGGGCTCCTGGGCTGAACATGGACCACGCAGTTGCGACAGGAGGCCAGGGGAAAAACCCCTGCTCACTTGTTTGCCCTCAGGCAGCCAAAGCACTTTAACCCCTGCATAGGGAGCAGAGGGCGGTACGGCTTCTGGATTGTTTCACTGTGATTCCTAGGTTTTTTCGATGCCACGCAGTGTGTGCTTTTGTGTATGGAAGCAAGTGTGGGATGGGTCTTTGCCTTTCTGGGTAGGGAGCTGTCTAATCCAAGTCCCAGGCTTTTGGCAGCTTCTCTGCAACCCACCGTGGGTCCTGGTTGGGAGTGGGGAGGGTCAGGTTGGGGAAAGATGGGGTAGAGTGTAGATGGCTTGGTTCCAGAGGTGAGGGGGCCAGGGCTGCTGCCATCCTGGCCTGGTGGAGGTTGGGGAGCTGTAGGAGAGCTAGTGAGTCGAGACTTAGAAGAATGGGGCCACATAGCAGCAGAGGACTGGTGTAAGGGAGGGAGGGGTAGGGACAGAAGCTAGACCCAATCTCCTTTGGGATGTGGGCAGGGAGGGAAGCAGGCTTGGAGGGTTAATTTACCCACAGAATGTGATAGTAATAGGGGAGGGAGGCTGCTGTGGGTTTAACTCCTGGGTTGGCTGTTGGGTAGACAGGTGGGGAAAAGGCCCGTGAGTCATTGTAAGCACAGGTCCAACTTGGCCCTGACTCCTGCGGGGGTATGGGGAAGCTGTGACAGAAACGATGGGTGCTGTGGTCCTCTGCAGGCCCTCACCCCTTAACTTCCTCATACAGACTGGCACTGGGCAGGGCCTCTCATGTGGCAGCCACATGTGGCGTTGTGAGGCCACCCCATGTGGGGTCTGTGGTGAGAGTCCTGTAGGATCCCTGCTCAAGCAGCACAGAGGAAGGGGCAAGACGTGGCCTGTAGGCACTGTCTCAGCCTGCAGAGAAGAAAGTGAGGCCGGGAGCCTGAGCCTGGGCTGGAGCCTTCTCCCCTCCCCAGTTGGACTAGGGGCAGTGTTAATTTTGAAAAGGTGTGGGTCCCTGTGTCCTCTTCCAGGGGTCCAAGGGAACGGGAGAGGTCACTGGGCCTGTTTTCTCCCTCCTGACCCTGCATCTCCCACCCCGTGTATCATAGGGAACTTTCACCTTAAAATCTTTCTAAGCAAAGTGTGAATAGGATTTTTACTCCCTTTGTACAGTATTCTGAGAAACGCAAATAAAAGGGCAACATGTTTCTGTT)$ MAFGKSHRDPYATSVGHLIEKATFAGVQTEDWGQFMHICDIINTTQDGPKDAVKALKKRISKNYNHKEIQLTLSLIDMCVQNCGPSFQSLIVKKEFVKENLVKLLNPRYNLPLDIQNRILNFIKTWSQGFPGGVDVSEVKEVYLDLVKKGVQFPPSEAEAETARQETAQISSNPPTSVPTAPALSSVIAPKNSTVTLVPEQIGKLHSELDMVKMNVRVMSAILMENTPGSENHEDIELLQKLYKTGREMQERIMDLLVVVENEDVTVELIQVNEDLNNAILGYERFTRNQQRILEQNKNQKEATNTTSEPSAPSQDLLDLSPSPRMPRATLGELNTMNNQLSGLNFSLPSSDVTNNLKPSLHPQMNLLALENTEIPPFAQRTSQNLTSSHAYDNPVSLQTIAAAPSNQSLPPLPSNHPAMTKSDLQPPNYYEVMEFDPLAPAVTTe|taergsrMNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHNMGMYIFLHTVKGTPFETPDQGKARLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNTVSLMSVLIPKLPQLHGVRIFGINKY* 11BR012 ENSG00000108443.14 ENSG00000141293.16(27175),ENSG00000264451.1(2976) +/+ ./+ chr17:59893924 chr17:48457394 5'UTR/splice-site intergenic duplication 2 1 0 29 44 high . . . . . ENSG00000108443.14 . ENST00000393021.7 . downstream upstream . ^(GTTTGGCTTCACGGAACCCTGTACGCATGCTCCTACGCTGAACTTTAGGAGCCAGTCTAAGGCCTAGGCGCAGACGCACTGAGCCTAAGCAGCCGGTGATGGCGGCAGCGGCTGTGGTGGCTGCGGCGGGTCCGGGCCCATGAGGCGACGAAGGAGGCGGGACGGCTTTTACCCAGCCCCGGACTT)CCGAGACAGGGAAGCTGAGGACATGGCAGGAGTGTTTGACATAGACCTGGACCAGCCAGAGGACGCGGGCTCTGAGGATGAGCTGGAGGAGGGG___GAAGCGCTCAGCTGTTAGAAGTGACAGCTGAAAACTTCTGTCGGGAGTAGCACTGCCGCTGCTGTTACAGCCACCAGGAGTTTTATTTCGGGAGCAAGGGGGCTCTGCTGCATCTTCCAATCTTCCAGG|CGCTCCAGGACGCAGGTGGCACGCTCAACGCGGGGAGGCGCCACCTACAGGACAGAG . 11BR012 ENSG00000108984.15 ENSG00000227036.8 +/+ -/+ chr17:69415000 chr17:72336665 CDS/splice-site intron deletion/5'-5' 1 1 0 4 3 high out-of-frame . . . . ENSG00000108984.15 ENSG00000227036.8 ENST00000590474.7 . downstream upstream . ^(AGTTCCAAGTTTGGAGCTTTTAGCTGCCAGCCCTGGCCCATCATGTAGCTGCAGCACAGCCTTCCCTAACGTTGCAACTGGGGGAAAAATCACTTTCCAGTCTGTTTTGCAAGGTGTGCATTTCCATCTTGATTCCCTGAAAGTCCATCTGCTGCATCG)GTCAAGAGAAACTCCACTTGCATGAAGATTGCACGCCTGCAGCTTGCATCTTTGTTGCAAAACTAGCTACAGAAGAGAAGCAAGGCAAAGTCTTTTGTGCTCCCCTCCCCCATCAAAGGAAAGGGGAAAATGTCTCAGTCGAAAG|CTTCCCGAAGCCCAGCAAAGAACAGAGATTTCTGCTCCCAAGTTTGGTGAATCTAGACCAGCGCTGTCCAGCAGAACTCGCTGTGATGATGGAACTGTCCCATATCTGTGCTGTCCAATATGGTGGTCACCAGCCACACGGGGCCACTGGGCACTTGAAATATGGTTTGCACAAATGAGC MSQSK|asrspaknrdfcsqvw* 11BR012 ENSG00000172915.18 ENSG00000183098.11 +/+ +/- chr13:35232619 chr13:93769855 CDS/splice-site intron inversion/3'-3' 1 0 1 15 2 high out-of-frame . Concanavalin_A-like_lectin/glucanases_superfamily(100%),Domain_of_unknown_function_(DUF4704)(100%)| . . ENSG00000172915.18 ENSG00000183098.11 ENST00000400445.7 . downstream downstream . ^(AGGCAGGGGGCGGCAACATGGCGGAGTGAGCGGCGGCGTCGGGGCTTCACAACAACAGTGGTGGCCGTAGCAGCGGCGGCAGCAGCGTCAATAGCATCGGCCACAGCCTGAGCTTCAGCACCGGCCAGCGTCGTGGCCAGCTGCTCGCGTCCTCGGGCTTCTCGGAGCGGCTGCAGCATCTCCGCGGGGGGCGGGCCGGGCCGGACAGACCGGGAGAGGGAGAGAGCAGAGGCAGCGGCGGCGGCAGCGGCAGCGGCAGCGGCACACCTGCTGGGCGGGCACAGCCGCTTGCCCGGCAGCGGTTAGCGGTACCGCCACCGCCGAGAATAAGCCTGCGGATCCCCCGCCGCCTCCGCGGGGGAGAGCGCCGGAGCGGGCCGGGCTGAGGCGCAGGCGGGGAGCGGGCCCGGCGCCGCGGCGCTGGTGGATGCTGGGGCTCCGAGGCGACGGCCGGGGGGCGGGGGCCGAGGCAGGTATAACGGTACCGGCGGCGGCAGCGCCGCTGCTCTTCCCTTCTCCTCAGGAGGGGGGCCAATGGCTAGCGAGAAGCCGGGCCCGGGCCCGGGGCTCGAGCCTCAGCCCGTGGGGCTCATTGCCGTCGGGGCCGCTGGCGGAGGCGGCGGGGGCAGCGGTGGTGGCGGCACCGGGGGCAGCGGGATGGGGGAGCTAAGGGGGGCGTCCGGCTCCGGCTCGGTGATGCTCCCCGCGGGGATGATTAACCCTTCGGTGCCGATCCGCAACATCCGGATGAAATTCGCAGTGTTGATTGGACTCATACAGGTCGGAGAGGTCAGCAACAGGGACATCGTGGAGACGGTGCTCAACCTG___CTGGTTGGTGGAGAATTTGACTTGGAGATGAACTTTATTATCCAGGATGCTGAGAGTATAACATGTATGACAGAGCTTTTGGAGCACTGTGATGTAACATGTCAAGCAGAAATATGGAGCATGTTTACAGCCATTCTACGAAAAAGTGTTCGGAATTTACAGACTAGCACAGAAGTTGGGCTAATTGAACAAGTATTGCTGAAAATGAGTGCTGTAGATGACATGATAGCAG___ATCTTCTAGTTGATATGTTGGGGGTTCTTGCCAGCTACAGCATCACTGTCAAGGAGTTGAAGCTTTTGTTCAGCATGCTTCGAGGAGAAAGTGGAATCTGG___CCAAGACATGCAGTAAAATTATTATCAGTTCTTAATCAGATGCCACAGAGACACGGTCCTGATACTTTTTTCAATTTCCCTGGTTGTAGCGCTGCG___GCAATTGCCTTGCCTCCTATTGCAAAGTGGCCTTATCAGAATGGCTTCACCTTAAACACTTGGTTTCGTATGGATCCATTAAATAATATTAATGTTGATAAGGATAAACCTTATCTTTATTG___TTTTCGTACTAGCAAAGGAGTTGGTTACTCTGCTCATTTTGTTGGCAACTGTTTAATAGTCACATCATTGAAGTCCAAAGGAAAAGGTTTTCAGCATTGTGTGAAATATGATTTTCAACCACGCAAG___TGGTACATGATCAGCATTGTCCACATTTACAATCGATGGAGGAACAGTGAAATTCGGTGTTATGTTAATGGACAACTGGTATCTTATGGTGATATGGCTTGGCATGTTAACACAAATGAT___AGCTATGACAAGTGCTTTCTTGGATCATCAGAAACTGCTGATGCAAATAGGGTATTCTGTGGTCAACTTGGTGCCGTGTATGTGTTCAGTGAAGCACTCAACCCAGCACAGATATTTGCAATTCATCAGTTAGGACCTGGATATAAG___AGTACCTTCAAGTTTAAATCTGAGAGTGATATTCATTTGGCAGAACATCATAAACAGGTGTTATATGATGGGAAACTTGCAAGTAGCATTGCCTTTACATATAATGCTAAGGCCACTGATGCTCAGCTCTGCCTGGAATCATCACCAAAAGAGAATGCATCAATTTTTGTGCATTCCCCACATGCTCTAATGCTTCAG___GATGTGAAAGCGATAGTAACACATTCAATTCATAGTGCAATTCATTCAATTGGAGGGATTCAAGTGCTTTTTCCACTTTTTGCCCAATTGGATAATAGGCAGCTCAATGACAGTCAAGTGGAAACAACTGTCTG___TGCTACTCTGTTGGCATTCCTGGTTGAACTACTTAAAAGTTCAGTAGCCATGCAAGAACAGATGCTGGGTGGAAAAGGCTTTTTAGTCATTGGCTACTTACTTGAAAAG___TCATCAAGAGTTCATATAACTAGAGCTGTCCTGGAGCAATTTTTATCTTTTGCAAAATACCTTGATGGTTTATCTCATGGAGCACCTTTGCTGAAGCAGCTTTGTGATCACATTTTATTTAACCCAGCCATCTGGATACATACACCTGCAAAG___GTTCAGCTTTCCCTATACACATATTTGTCTGCTGAATTTATTGGAACTGCTACCATCTACACCACCATACGCAGAGTAGGAACAGTATTACAGCTAATGCACACCTTAAAATATTACTACTGGGTTATTAATCCTGCTGACAGTAGTGGCATTACACCTAAAGGATTAG___ATGGTCCCCGGCCATCACAAAAAGAAATTATATCACTGAGGGCATTTATGCTACTTTTTCTGAAACAGCTGATACTAAAG___GATCGAGGGGTCAAGGAAGATGAACTTCAGAGTATATTAAATTACCTACTTACGATGCATGAG___GATGAAAATATTCATGATGTGCTACAGTTACTGGTGGCTTTAATGTCGGAACACCCAGCCTCAATGATACCAGCATTTGATCAAAGAAATGGAATAAG___GGTGATCTACAAATTATTGGCTTCTAAAAGTGAAAGTATTTGGGTTCAAGCTTTGAAGGTTCTGGGATACTTTCTGAAGCATTTAGGTCACAA___GAGAAAAGTTGAAATTATGCACACCCATAGTCTTTTCACTCTTCTTGGAGAAAGGCTGATGTTGCATACAAACACTGTGACTGTCACCACATACAACACACTTTATGAG___ATCTTGACAGAACAAGTATGTACTCAGGTCGTACACAAACCACATCCAGAGCCAGATTCTACAGTGAAAATTCAGAATCCAA___TGATTCTTAAAGTGGTGGCAACTTTGTTAAAAAACTCTACACCAAGTGCAGAGCTGATGGAAGTTCGTCGTTTATTTTTATCTGATATGATAAAACTTTTCAGTAACAGCCGTGAAAATAGAAG___ATGCTTATTGCAGTGTTCAGTGTGGCAGGATTGGATGTTTTCTCTTGGCTATATCAATCCTAAAAATTCTGAGGAACAGAAGATTACCGAAATGGTCTACAATATCTTCCGGATTCTTTTGTATCATGCAATAAAATATGAATGGGGAGGCTGGAGAGTCTGGGTGGATACCCTCTCAATAGCCCATTCCAAG___GTCACTTATGAAGCTCATAAGGAATACCTAGCCAAAATGTATGAGGAATATCAAAGACAAGAGGAGGAAAACATTAAAAAGGGAAAGAAAGGGAATGTGAGCACCATCTCTGGTCTTTCATCACAGACAACAGGAGCAAAAGGTGGAATGGAAATTCGAGAGATAGAAGATCTTTCACAAAGCCAGAGCCCAGAAAGTGAGACCGATTACCCTGTCAGCACAGATACTCGAGACTTACTCATGTCAACAAAAGTGTCAGATGATATTCTTGGAAATTCAGATAGACCAGGAAGTGGTGTACATGTGGAAGTACATGATCTTTTAGTAGATATAAAAGCAGAGAAAGTGGAAGCAACAGAAGTAAAGCTCGATGATATGGATTTATCACCGGAGACTTTAGTAGGTGGAGAGAATGGTGCCCTTGTGGAGGTTGAATCTCTGTTGGATAATGTATATAGTGCTGCTGTTGAGAAACTCCAGAACAATGTACATGGAAGTGTTGGTATCATTAAAAAAAATGAAGAAAAGGATAATGGTCCATTGATAACATTAGCAGATGAGAAAGAAGACCTTCCCAATAGTAGTACATCATTTCTCTTTGATAAAATACCCAAACAGGAGGAAAAACTACTTCCTGAACTTTCTAGCAATCACATTATTCCAAATATTCAGGACACACAAGTACATCTTGGTGTTAGTGATGATCTTGGATTGCTTGCTCACATGACCGGTAGCGTAGACTTAACTTGTACATCCAGTATAATAGAAGAAAAAGAATTCAAAATCCATACAACTTCAGATGGAATGAGCAGTATTTCTGAAAGAGACTTAGCGTCATCAACTAAGGGGCTGGAGTATGCTGAAATGACTGCTACAACTCTGGAAACTGAGTCTTCTAGTAGCAAAATTGTACCAAATATTGATGCAGGAAGTATAATTTCAGATACTGAAAGGTCTGACGATGGCAAAGAATCAGGAAAAGAAATCCGAAAAATCCAAACAACTACTACGACACAA___GCTGTGCAGGGTCGGTCTATCACCCAACAAGACCGAGATCTCCGAGTTGATTTAGGATTTCGAGGAATGCCAATGACTGAGGAACAGCGACGCCAGTTTAGCCCAGGTCCACGGACTACAATGTTTCGTATTCCTGAGTTTAAATGGTCTCCAATGCACCAGCGGCTTCTCACTGATTTACTATTTGCATTAGAAACTGATGTACATGTTTGGAGGAG___CCATTCTACAAAGTCTGTAATGGATTTTGTCAATAGCAATGAAAATATTATTTTTGTACATAACACAATTCACCTCATTTCCCAAATGGTAGACAACATCATCATTGCTTGTGGAGGAATTTTACCTTTGCTCTCTGCTGCTACATCACCAACT___GGTTCTAAG___ACGGAATTGGAAAATATTGAAGTGACACAAGGCATGTCAGCTGAGACAGCAGTAACTTTCCTCAGCCGGCTGATGGCTATGGTTGATGTACTTGTGTTTGCAAGCTCTCTAAATTTTAGTGAGATTGAAGCTGAGAAAAACATGTCTTCTGGAGGTTTAATGCGACAGTGCCTAAGATTAG___TTTGTTGTGTTGCTGTGAGAAACTGTTTAGAATGTCGGCAAAGACAGAGAGACAGGGGAAATAAATCTTCCCATGGAAGCAGTAAACCTCAGGAAGTTCCTCAAAGTGTGACTGCTACAGCAGCTTCGAAG___ACTCCATTGGAAAATGTTCCAGGTAACCTTTCTCCTATTAAGGATCCGGATAGACTTCTTCAGGATGTTGATATCAATCGCCTTCGTGCTGTTGTCTTTCGGGATGTG___GATGATAGCAAACAAGCACAGTTCTTAGCTCTGGCTGTTGTTTACTTCATTTCGGTTCTGATGGTTTCCAAGTATCGTGACATATTAGAACCCCAGAGAGAGACTACAAGAACTGGAAGCCAACCAGGTAGAAACATCAGGCAAGAAATAAATTCACCAACAAGTACAG___TTGTGGTCATACCATCTATCCCTCATCCAAGTTTGAACCATGGATTCCTTGCCAAGTTAATTCCTGAGCAGAGCTTTGGCCACTCATTTTACAAAG___AAACACCTGCTGCATTTCCAGACACCATAAAAGAAAAAGAAACACCAACTCCTGGTGAAGATATTCAGGTAGAAAGTTCAATTCCCCATACAGATTCAGGAATTGGAGAGGAGCAAGTGGCTAGCATCCTGAATGGGGCAGAATTAGAAACAAGTACAGGCCCTGATGCCATGAGTGAACTCTTATCCACTTTGTCATCCGAAGTGAAGAAATCACAAGAGAGCTTAACTGAAAATCCTAGTGAAACGTTGAAGCCTGCAACATCCATATCTAGCATTAGTCAAACCAAAGGCATCAATGTGAAGGAAATACTGAAAAGTCTTGTGGCTGCTCCAGTTGAAATAGCAGAATGTGGCCCTGAACCTATCCCATACCCAGATCCAGCATTGAAGAGAGAAACACAAGCTATTCTTCCTATGCAGTTTCATTCCTTTGACAG___GAGTGTTGTGGTGCCTGTAAAGAAACCACCTCCAGGTAGTTTAGCTGTAACCACTGTGGGAGCCACTACTGCTGGAAGTGGGCTGCCAACAGGCAGTACCTCTAATATATTTGCTGCTACTGGAGCTACACCAAAAAGTATGATTAATACAACAG___GTGCCGTGGATTCAGGGTCCTCCTCCTCTTCCTCCTCTTCTAGTTTTGTGAATGGTGCTACTAGCAAAAACCTTCCAGCTGTACAAACTGTTGCTCCAATGCCAGAAGATTCAGCTGAAAATATGAG___CATCACTGCAAAACTTGAAAGAGCGTTAGAAAAAGTTGCTCC)TCTTCTTCGTGAAATTTTTGTAGACTTTGCCCCATTCCTATCTCGTACACTTCTTGGCAGTCATGGACAAGAGCTATTGATAGAAG|GTGATGCTGGTGCCTACCAAGATTGGAAAAACAC MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGMINPSVPIRNIRMKFAVLIGLIQVGEVSNRDIVETVLNLLVGGEFDLEMNFIIQDAESITCMTELLEHCDVTCQAEIWSMFTAILRKSVRNLQTSTEVGLIEQVLLKMSAVDDMIADLLVDMLGVLASYSITVKELKLLFSMLRGESGIWPRHAVKLLSVLNQMPQRHGPDTFFNFPGCSAAAIALPPIAKWPYQNGFTLNTWFRMDPLNNINVDKDKPYLYCFRTSKGVGYSAHFVGNCLIVTSLKSKGKGFQHCVKYDFQPRKWYMISIVHIYNRWRNSEIRCYVNGQLVSYGDMAWHVNTNDSYDKCFLGSSETADANRVFCGQLGAVYVFSEALNPAQIFAIHQLGPGYKSTFKFKSESDIHLAEHHKQVLYDGKLASSIAFTYNAKATDAQLCLESSPKENASIFVHSPHALMLQDVKAIVTHSIHSAIHSIGGIQVLFPLFAQLDNRQLNDSQVETTVCATLLAFLVELLKSSVAMQEQMLGGKGFLVIGYLLEKSSRVHITRAVLEQFLSFAKYLDGLSHGAPLLKQLCDHILFNPAIWIHTPAKVQLSLYTYLSAEFIGTATIYTTIRRVGTVLQLMHTLKYYYWVINPADSSGITPKGLDGPRPSQKEIISLRAFMLLFLKQLILKDRGVKEDELQSILNYLLTMHEDENIHDVLQLLVALMSEHPASMIPAFDQRNGIRVIYKLLASKSESIWVQALKVLGYFLKHLGHKRKVEIMHTHSLFTLLGERLMLHTNTVTVTTYNTLYEILTEQVCTQVVHKPHPEPDSTVKIQNPMILKVVATLLKNSTPSAELMEVRRLFLSDMIKLFSNSRENRRCLLQCSVWQDWMFSLGYINPKNSEEQKITEMVYNIFRILLYHAIKYEWGGWRVWVDTLSIAHSKVTYEAHKEYLAKMYEEYQRQEEENIKKGKKGNVSTISGLSSQTTGAKGGMEIREIEDLSQSQSPESETDYPVSTDTRDLLMSTKVSDDILGNSDRPGSGVHVEVHDLLVDIKAEKVEATEVKLDDMDLSPETLVGGENGALVEVESLLDNVYSAAVEKLQNNVHGSVGIIKKNEEKDNGPLITLADEKEDLPNSSTSFLFDKIPKQEEKLLPELSSNHIIPNIQDTQVHLGVSDDLGLLAHMTGSVDLTCTSSIIEEKEFKIHTTSDGMSSISERDLASSTKGLEYAEMTATTLETESSSSKIVPNIDAGSIISDTERSDDGKESGKEIRKIQTTTTTQAVQGRSITQQDRDLRVDLGFRGMPMTEEQRRQFSPGPRTTMFRIPEFKWSPMHQRLLTDLLFALETDVHVWRSHSTKSVMDFVNSNENIIFVHNTIHLISQMVDNIIIACGGILPLLSAATSPTGSKTELENIEVTQGMSAETAVTFLSRLMAMVDVLVFASSLNFSEIEAEKNMSSGGLMRQCLRLVCCVAVRNCLECRQRQRDRGNKSSHGSSKPQEVPQSVTATAASKTPLENVPGNLSPIKDPDRLLQDVDINRLRAVVFRDVDDSKQAQFLALAVVYFISVLMVSKYRDILEPQRETTRTGSQPGRNIRQEINSPTSTVVVIPSIPHPSLNHGFLAKLIPEQSFGHSFYKETPAAFPDTIKEKETPTPGEDIQVESSIPHTDSGIGEEQVASILNGAELETSTGPDAMSELLSTLSSEVKKSQESLTENPSETLKPATSISSISQTKGINVKEILKSLVAAPVEIAECGPEPIPYPDPALKRETQAILPMQFHSFDRSVVVPVKKPPPGSLAVTTVGATTAGSGLPTGSTSNIFAATGATPKSMINTTGAVDSGSSSSSSSSSFVNGATSKNLPAVQTVAPMPEDSAENMSITAKLERALEKVAPLLREIFVDFAPFLSRTLLGSHGQELLIE|gdagayqdwkn 11BR012 ENSG00000254349.6 ENSG00000076641.4 +/+ -/+ chr8:74703682 chr8:81064650 exon/splice-site intron deletion/5'-5' 1 1 0 14 7 high . . . . . ENSG00000254349.6 ENSG00000076641.4 ENST00000523442.5 . downstream upstream mismatches(1) ^(TTTACCTAATCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCCGCCTCGCTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTCCGTGGGCGTAGGACCCTCCGAGCCAG___TTCCCGAGAGATCCCATGATCCAGAGACAAAGGTGGCAGCTTTGGAGCAAGTGGAGAGCCAGAAAAGGATCCAGAA)CTGGAGTGGAAG___CTTCCTTTGCCAGCTGgAGCTATGCCATCTTTTATGTCTGATGAGGCAGTTTCATC?GATTTGAAGATGATGAAGAAAAGTTCTTTGCAAG___GTTGCTTATTGAATATTACTGGGAAAACAGGAAAATTAGGAGGAATGTTCTGGAGTGATTTATCTTTTTCATCAGGG|GTCCTCTAGTGTGCTTTTCATGTCAGGCACCTCGGGTTTCTACTGAAGCAGAGACGGCAGCCTCGGTCCTTCAAAAGTAGTTCTTACGATCTTCTCAAGACATCCATTCATGAAGTGAATAGCAATCAATGCTCTTGGAGCTTAATGGGAAAAACTCGAAGACACTGACATGCCAC . 11BR012 ENSG00000173335.5 ENSG00000101435.5 -/- -/- chr20:23603621 chr20:23565037 CDS CDS/splice-site deletion/read-through 14 8 1 1465 52 medium in-frame . . . . ENSG00000173335.5 ENSG00000101435.5 ENST00000376971.4 ENST00000376979.4 upstream downstream mismappers(2),mismatches(3) ^(AGTGGACGCCAGGGATCTGAAGGGCAAAGGCAAGGGCTGCTGGAGCCTGCATCATGTCGAGTCCGCAGAGGAGGAAGGCTATGCCCTGGGCACTGTCACTGCTTCTCATGGGCTTCCAGCTCCTGGTGACTTATGCCTGGTGTTCTGA)AGAGGAAATGGGTGGTAATAATAAAATAGTCCAGGATCCTATGTTCCTCGCCACAGTGGAGTTTGCCTTGAACACTTTCAACGTGCAGAGCAAGGAGGAGCATGCCTACAGGCTGTTGCGCGTCCTGAGTTCATGGAGGGAGGATAGCATGGACAGAAAG___TGGCGAGGTAAGATGGTGTTCTCCATGAATCTGCAACTGCGCCAAACCGTATGTAGGAAATTTGAAGATGACATTGACAACTGCCCTTTTCAAGAAAGCCTGGAGCTGAAC?AC|ACTTTCACCTGCTTCTTCACCATCAGCACCAGGCCCTGGATGACTCAGTTCAGCCTCCTGAACAAGACCTGCTTGGAGGGATTCCACTGAGTGAAACCCACTCACAGGCTTGTCCATGTGCTGCTCCCACATTCCGTGGACATCAGCACTACTCTCCTGAGGACTCTTCAGTGGCTGAGCAGCTTTG(GACTTGTTTGTTATCCTATTTTGCATGTGTTTGAGATCTCAGATCAGTGTTTTAGAAAATCCACACATCTTGAGCCTAATCATGTAGTGTAGATCATTAAACATCAGCATTTTAAGAAA)$ MSSPQRRKAMPWALSLLLMGFQLLVTYAWCSEEEMGGNNKIVQDPMFLATVEFALNTFNVQSKEEHAYRLLRVLSSWREDSMDRKWRGKMVFSMNLQLRQTVCRKFEDDIDNCPFQESLELN?|TFTCFFTISTRPWMTQFSLLNKTCLEGFH* 11BR012 ENSG00000077549.19 ENSG00000082482.13 -/- +/+ chr1:19485436 chr1:215234828 CDS/splice-site CDS/splice-site inversion 0 17 0 215 50 medium in-frame . . . . ENSG00000077549.19 ENSG00000082482.13 ENST00000264202.8 ENST00000444842.6 upstream upstream mismappers(4) ^(ATGTTCACTCCTGGGCACCCGGGGAA)GTGGAAGCGCCGGGCCCTGCTGCGGGGGGGAGAGCCACTGACGCCGGGACCGGGACCGCCGCCGCCGCCGCCACCATG|GTGGGAGAGTTCAGAGCACACGCTGCTGAGTGGACAGCCAACGTCACAGCCGAATTCAAAGAAACCAGGAGGCGACTGAGTGTGGAGATTTATGACAAGTTCCAGCGGGCCACCTCCATCAAGCGGAAGCTCTCGGCAGAACTGGCTGGAAACCACAATCAGGAGCTGACTCCTTGTAGGAGGACCCTGTCAGTGAACCACCTGACCAGCGAGAGGGATGTCTTGCCTCCCTTACTGAAGACTGAGAGTATCTATCTGAATGGTTTGACGCCACACTGTGCTGGTGAAGAGATTGCTG(TGATTGAGAACATCAAATAGCCCTCTCTTTAAATAACCTTAGGCATAGCCATAGGTGAGGACTTCTCTATGCTCTTTATGACTGTTGCTGGTAGCATTTTTTAAATTGTGCATGAGCTCAAAGGGGGAACAAAATAGATACACCCATCATGGTCATCTATCATCAAGAGAATTTGGAATTCTGAGCCAGCACTTTCTTTCTGATGATGCTTGTTGAACGGTCCACTTTCTTTGATGAGTGGAATGACAAGCAATGTCTGATGCCTTTTTGTGCCCAGACTGTTTTCCTCTCTCTTTCCCTAATGTGCCATAAGGCCTCAGAATGAATGAGAATTGTTTCTGGTAACAATGTAGCTTTGAGGGATCAGTTCTTAACTTTTCAGGGTCTACCTAACTGAGCCTAGATATGGACCATTTATGGATGACAACAATTTTTTTTTTGTAAATGACAAGAAATTCTTATGCAGCCTTTTACCTAAGAAATTTTCTGTCAGTGCCTTATCTTATGAAGAAACAGAACCTCTCTAGCTAATGTGTGGTTTCTCCTTCCCTGCCCCCACCCCTAGGCTCACCTCTGCAGTCTTTTACCCCAGTTCTCCCATTTGAATACCATACCTTGCTGGAAACAGTGTGTAAAATGACTGAAGTGATGATGCCCGAAGATGAAATAGATGCCAAATTAGATGGACATTGAAGCAACACTCAGCGTTGCCTAGCGTTAAAGGCACTGCAGAGAAATGAGGTGCAGAGGTGGCCCCTCTGAGTATTTATTTGACTCAGGTACCAGTGGTACATATATACAGTGTAATTATGACCAGGCTGGTAAAATTGGCTGCTCGCAAACAATCCCCTTTTTTCCTGGCAGTATTTGGAATTTATCATTTATTAATAACTATACATTTTTAAAGGCAGAAGAAGAAAATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAAATGACCTGACAGAAGAAAACTGTTAAAAATGGATATTATTGGAGGGGATTTAAAACAGTGGGTGTGAATTATCATTCTGATGGAAAGAAAATAGCAAAACAATGTGTTACAAGTATTTGCTAATAAACAGTATACTGCCAGCTTCTAATTGCTTTTTGATGTATGAAAGGCTTATATAATTTTCTTTTCGTTGGGTGACTTTTGCCAGATGAGAGGAGGTGGCACAGTGGTGAGTGCAGGGCACAGTCCTAGCCTTCTGTGGGTATACTTTTGGAGTTGTGACTTGGCTGTGAGGGCAGAAGTTGAAGTTGGGATCACTGTGACTTTGCACATGGAAAAATGCAGATTGCAGGCATAATTCATCTCTGACATTAGAGAAAAAGCTGTTATAGCACAATTTAAATTTTGAGAGTTTGCTGTGTTTTTTTTTCACATAAAAGAGGCTGATTATTCTTTTTAGTTTAATTTTATATCCTGTAATTCTTTGGATGGTTCCAAGATTCAGAAAAAATTCAGTAAATGCACCCCGTAAATTGCTACCCTTTCCTTTATTTTCATACTTAGATCTGCTGTACATTGTATATATATATAATTTTTAAAATGCAGAAAGAAAATAATTTCCCTAAATATAATTGCAAACTGATTTCTTTTACTTTTTTGTGTGTGGGGGTGGGAGCTGTATCTGAATAAGTGGCATTCAGATTAGGGTCTTGAAAAATAAACCCAGAATCTTTAAAAGAAGCAAATAAACTAATAGACGCTTATTTTCCAAAATTTAAATTTAAGCTAGAAATGTAAATATTCAATTAATTTGTTAAAAGTACTTTTATAAAGTTAAAAAAAATCCAACCAAAATTTTAGAAAGTCAGGCTCTTTTAGAAAGAAAGCTACACCCATTTCCTCAAATAACTGTTCCGAAAATTTATATGGTGGAATGCGCCATGTATAAACTGTGAATTGTATTGACAAATAAAGTTTGTAATTAAAGTCAGCA)$ M|VGEFRAHAAEWTANVTAEFKETRRRLSVEIYDKFQRATSIKRKLSAELAGNHNQELTPCRRTLSVNHLTSERDVLPPLLKTESIYLNGLTPHCAGEEIAVIENIK* 11BR012 ENSG00000185630.19 ENSG00000201987.1(30210),ENSG00000225487.2(36776) +/+ ./+ chr1:164821626 chr1:164884542 CDS/splice-site intergenic deletion/read-through 5 11 1 1130 21 medium stop-codon . Homeobox_domain(100%),PBC_domain(100%)| . . ENSG00000185630.19 . ENST00000367897.5 . downstream upstream . ^(ATGGACGAGCAGCCCAGGCTGATGCATTCCCATGCTGGGGTCGGGATGGCCGGACACCCCGGCCTGTCCCAGCACTTGCAGGATGGGGCCGGAGGGACCGAGGGGGAGGGCGGGAGGAAGCAGGACATTGGAGACATTTTACAGCAAATTATGACCATCACAGACCAGAGTTTGGATGAGGCGCAGGCCAG___AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTGTTGTGTGAAATCAAAGAAAAAACAG___TTTTGAGTATCCGAGGAGCCCAGGAGGAGGAACCCACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCTGAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGTTCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATCTACCATACGGAGCTGGAGAAATACGAGCAG___GCCTGCAACGAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATGGTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGCGAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG___GCGGAAGAGACGGAATTTCAACAAGCAAGCGACAGAAATCCTGAATGAATATTTCTATTCCCATCTCAGCAACCCTTACCCCAGTGAGGAAGCCAAAGAGGAGTTAGC)CAAGAAGTGTGGCATCACAGTCTCCCAG___GTATCAAACTGGTTTGGAAATAAGCGAATCCGGTACAAGAAGAACATAGGTAAATTTCAAGAGGAAGCCAATATTTATGCTGCCAAAACAGCTGTCACTGCTACCAATGTGTCAGCCCATGGAAGCCAAGCTAACTCGCCCTCAACTCCCAACTCGGCTG___GTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGT|GAAATTGCAAGAACCTATTGATGGCTTGGATGCTCTGGTGGTGACAGCAAGTCCTCTTCTCTTGACTGAAGAAATGTCTTCCCCTATCTGAAAAGTGGCCTCTCTTCCGGAATGACACATACTGACTTTTGAAGAAGCAAAAGGATACCTGCTGGCCAGTCATATCAGCCAAAAAACTCTGGTGAGCAG . 11BR012 ENSG00000070501.12 ENSG00000130254.12 +/+ -/+ chr8:42369582 chr19:5607380 intron intron translocation/5'-5' 8 3 0 47 10 medium out-of-frame . DNA_polymerase_beta_palm_(100%),Fingers_domain_of_DNA_polymerase_lambda(100%),Helix-hairpin-helix_domain(100%)| . . ENSG00000070501.12 ENSG00000130254.12 ENST00000265421.9 . downstream upstream . ^(ATTGTTCCGCCGGTCGCGCCGGAGCTGGGTTGCTCCTGCTCCCGTCTCCAAGTCCTGGTACCTCCTTCAAGCTGGGAGAGGGCTCTAGTCCCTGGTTCTGAACACTCTGGGGTTCTCGGGTGCAGGCCGCCATGAGCAAACGGAAGGCGCCGCAGGAGACTCTCAACGGGGGAATCACCGACATGCTCACAG___AACTCGCAAACTTTGAGAAGAACGTGAGCCAAGCTATCCACAAGTACAATGCTTACAG___AAAAGCAGCATCTGTTATAGCAAAATACCCACACAAAATAAAGAGTGGAGCTGAAGCTAAGAAATTG___CCTGGAGTAGGAACAAAAATTGCTGAAAAGATTGATGAGTTTTTAGCAACTGGAAAATTACGTAAACTGGAAAAG___ATTCGGCAGGATGATACGAGTTCATCCATCAATTTCCTGACTCGAGTTAGTGGCATTGG___TCCATCTGCTGCAAGGAAGTTTGTAGATGAAGGAATTAAAACACTAGAAG___ATCTCAGAAAAAATGAAGATAAATTGAACCATCATCAGCGAATTGGGCTGAA___ATATTTTGGGGACTTTGAAAAAAGAATTCCTCGTGAAGAGATGTTACAAATGCAA___GATATTGTACTAAATGAAGTTAAAAAAGTGGATTCTGAATACATTGCTACAGTCTGTGGCAGTTTCAGAAGAG___GTGCAGAGTCCAGTGGTGACATGGATGTTCTCCTGACCCATCCCAGCTTCACTTCAGAATCAACCAAACAG___CCAAAACTGTTACAT)CAGGTTGTGGAGCAGTTACAAAAGGTTCATTTTATCACAGATACCCTGTCAAAGGGTGAGACAAAGTTCATG___GGTGTTTGCCAGCTTCCCAGTAAAAATGATGAAAAAGAATATCCACACAGAAGAATTGATATCAG___ATTTGCACCTCACCATGATGCCTTCCACAGCTCAAAAGTCAT|CCGTATGACAATAACATCACAAAGATCGACGGGAGGGGAAATGCAAGTATATTCCCACAGAGTTCTTGCACTACGCTGAAACCAACAGAGCACCC...CAGACAGACTGTAAGGGAAGATGTGTACTGTAATCCTACAGTAAACCACAATGACACAGAGTTAGAGCAAATAAGCCATCAGTCATAAAAAGGACTCGACCCACAAGAAGGCAGATAAATGGGAAAAAGAGATCAATAAACAAACATGAACAGAAAATAGAGAACAA MSKRKAPQETLNGGITDMLTELANFEKNVSQAIHKYNAYRKAASVIAKYPHKIKSGAEAKKLPGVGTKIAEKIDEFLATGKLRKLEKIRQDDTSSSINFLTRVSGIGPSAARKFVDEGIKTLEDLRKNEDKLNHHQRIGLKYFGDFEKRIPREEMLQMQDIVLNEVKKVDSEYIATVCGSFRRGAESSGDMDVLLTHPSFTSESTKQPKLLHQVVEQLQKVHFITDTLSKGETKFMGVCQLPSKNDEKEYPHRRIDIrfaphhdafhsskvi|rmtitsqrstggemqvyshrvlalr* 11BR012 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 4 5 0 1713 67 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream mismappers(1) ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAA)CTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCC(TCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 11BR012 ENSG00000162989.5(54286),ENSG00000228837.2(27901) ENSG00000162989.5 ./+ +/+ chr2:154912640 chr2:154854727 intergenic CDS/splice-site duplication 1 8 0 43 212 medium . . |Inward_rectifier_potassium_channel(100%) . . . ENSG00000162989.5 . ENST00000651198.1 downstream upstream . AAGGCAGTGGCCTAACTCTTCCCCTAGCTCCTGTCTTCTGCCTCCTGACTACCACGGTGTCTTTCCCATGTGAACTCAGGTGGCATTTTGTGCCTCTAGGACCT|GGATGACTTGTCAAGCTCGAACATCATATACTGAAGATGAAGTTCTTTGGGGTCATCGTTTTTTTCCTGTAATTTCCTTAGAAGAGGGATTCTTTAAAGTTGATTACTCCCAGTTCCATGCAACATTTGAAGTCCCCACCCCACCTTACAGTGTGAAAGAGCAGGAGGAAATGCTTCTCATGTCGTCCCCTTTAATAGCACCAGCCATAACTAAC(AGCAAAGAAAGACATAATTCTGTGGAATGCTTAGATGGACTAGATGATATTACTACAAAACTACCATCTAAGCTGCAGAAAATTACTGGAAGAGAAGACTTTCCCAAAAAACTCTTGAGGATGAGTTCTACAACTTCAGAAAAAGCCTACAGCTTGGGAGACTTGCCCATGAAACTTCAACGAATAAGTTCAGTTCCGGGCAACTCAGAAGAAAAACTGGTATCTAAAACCACCAAGATGTTATCTGATCCCATGAGCCAGTCTGTGGCTGATTTGCCACCAAAGCTTCAAAAGATGGCTGGAGGAGCAGCTAGGATGGAAGGGAACCTTCCAGCCAAATTAAGAAAAATGAACTCTGATCGCTTCACATAACAAAGCACTCCCTTAGGCATTATTTAATGTTTGATTTAGTAATAGTCCAATATTTGGCGATGAGGTAATTCTCCCTAAGGAATCTGAAAGTATATTTTCCTCCCAGTTCTACAAGCATATTTGAGAACCCTTCCTTTCCCAAGTATTGCGAATGTGCAGAAAGCAACAGTTACGGAGGGAGGACATCATAAGGAAGTTATTAACGGGCATGTATTATCACATCAAGCATGCAATAATGTGCAAATTTTGCATTTAGTTTTATGGCATGATTTATATATGGCATATTTATATTGTATATTCTGGAAAAAAAATATATATATATATTTAAAGGGGAGATACTCTCCCTGACATTTCTAACATATGTATTAAGCCAAACATGAGTGAATAGCTTTCAGGGCGATAAAACTAAATATATGTCTGTGTGTGTGTGTGTATGTATACACACATATACATATATATATACACATACATACACATACATACATACATACATATATATCTGATAAAATTGTGATGTTTTGTTCAAAGTTGTAGTTCTTGTGCATGTTTACTTTATTAGAGTAGGAAGGCTACTGGCATTAATTATTAATACCAAATATTTTAGCCTTAAATTTTTGTCATTTTAAAATCTGATTTAATGTTTTCTGCTGTTTAAGGTCTTGGGAGGCTTTCAATTGTATTTTATATGAGAGAATCACACAAGTTTGTGCTATCTATGGCCCTGCAAAAATATAACCATTACATGTTTAAATTGTAAATTTTAGAGCATACCAGTACTCAGTATAGCATTGAACATTTCTTATGATTTTTAAAAGTTGCTAGTACTGGGGAGAAATAATTGTTGATTAATTTGAGAATTATTCCTTTCCTAGACTAATTAAAATCTGGAAATCTGTTTTGTATATGATCTAATACAAAGATGAGCTCTGAACAAACACTGAATCATGTTAATAGACAGTAGCCAAGTTATATTGAATATATCAGAATCTGTGTGAAGTTACACAATTAATTGTCCCTGTTTCAAACTGAGTAAATTGGAAACATTTTCTTTCTTTTTCTGGAAATTTTGTCCATTTTAAAAACCAATCATTTTAAGAAGACATGACAATGCAATGAAACAGATGATAAATATTTATGCTTAAAATATGTATGTCTAATTGAGTCTCTTTTTTATTCTGTTTTCTTGTTTATGGCATTTGTTGTAACAGGATAGACTTTTTCCTCACCTAGGAAACCTATCCCATGCCTGTCACTTATAGTTCAGGAGGAAGTTTTTGCACAGACCAGAGAGAAATTAAAATTAGATGATAAATTGAAGATATCTTACACACAGTTTTTTGGTGAACACTGATTTTATTGGTGTCTTAGATCCCTAGTCTACCCAAATAATTTTAACAGTACTGTTTTTTCTAATCCTGAAGTCTGATATTTATGACTCATTAGCAGGAATCAAAACTAGTGATCAGTAGAACACTTTCAAAATAAAAATTTGGAATGCAGACTTTTATGAAAATTTAAAAGTGCTCCTTAACAGAATATCATGGGTTTTCCTATAAAACTTCTTTAAGTATTGTAATTCCAGTCTGCCCCAACTTTAAAAAAAATTCTTATTAATATGTCAGTCATTAATTGCTAGTTTGGGCTCTCATTATTTCCTGTTTTTTAACAATTTTGTGATAATTTTATTATTGGCAAATTAATACATCAACACTTAAATCATTGACTATAATAATACCTTCTGGCTACCTCTGTATCAACCAAATTCTGTAGGTGCAAACATATACCAGGGAATTCTTACTGGCAAAATGATCAATCTGGAGTGTGCATCCACTGTGAATGGAGCAAATTGCCCTATACCCATTGATAACCTAGCTTTCTTAGTTTGTAGATGTAGGAAACAAAATAGTGACAGAGAGAGAAGGGGGTCCACAGGGCATGGTATATTTATCAGCAGTGGAAAAAAAGTGCATAGATCATTTAGTCCAAGAACTTAAAACTAAATAGAGCCATAATTTACTTTGGAGAGTCATTTTAATTTGTCTTTGGTACCAAGGAGAAGACGGAACCAAAAACAAACTCTCCAAGTATATTCACACATTCAACAAAATTTTTGCATGCCTTCTATGTCGTAGGCATTTTTAGTTCCTGGGGATTTGGACATGGCTAAGTCAGAGAAGGCCATTGCTCACCATGAACACTGTATACCAGAAGGAGAGTGGGGAGGAGACAAAAAACAAATAAGACCACTTCAGACAATCAAAGTATCAGTTAAGAGAATGAAAACAGGCCTGACTCAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCGGAGGTTGGGGGATCACCTGAGGTCAGGAGATCGAGACCAGCCTGGACAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATTAACTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAAGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTCTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACT)$ . 11BR012 ENSG00000126217.21 ENSG00000130177.16 +/+ +/+ chr13:112902371 chr13:114250549 CDS/splice-site CDS/splice-site deletion 7 0 0 95 650 medium out-of-frame . |Tetratricopeptide_repeat(100%) . . ENSG00000126217.21 ENSG00000130177.16 ENST00000375608.7 ENST00000356221.8 downstream upstream duplicates(1) ^(ACCTGCGGGGCGCGG)AGCTCGGCGGACGCGGGAGGGCAGCACCACGGGCGGCAG___CCTCATGTTTGACTGTTGGAGATTTATCCTGTGCAAGAGACCTGGAAGCAACAGTTATTCTTCCCCACAACaGCCCAATGAGGCCAAAAAGGAGGAAACGGATCACCAAATTGATGTGTCTGACGTCATCAGGCTTGTTCAAGACACACCGGAGGCGACGGCCATGGCCACAG|CAAAGCCACAACACTTGAGAAAACCTATGGACCTGCATGGATAGCCTATGGACATTCATTTGCGGTG(GAGAGTGAGCACGACCAAGCGATGGCTGCTTACTTCACAGCAGCACAGCTGATGAAAGG___GTGTCATTTGCCTATGCTGTATATTGGATTAGAATATGGTTTGACCAATAACTCAAAACTAGCTGAAAGGTTCTTCAGCCAAGCTCTGAGCATTGCACCGGAAGACCCTTTTGTTATGCATGAGGTCGGCGTGGTTGCATTTCAGAATGGAGA___ATGGAAAACAGCCGAAAAATGGTTTCTTGATGCTTTGGAAAAAATTAAAGCAATTGGGAACGAG___GTAACAGTTGACAAATGGGAACCTTTGTTGAACAACTTGGGGCATGTCTGCAGAAAACTTAA___AAAGTATGCTGAGGCCTTGGATTACCACCGTCAGGCACTGGTGTTGATTCCTCAGAACGCATCCACCTACTCTGCTATTGGATATATCCACAGTCTGATGGGCAACTTTGAAAATGCTGTGGACTACTTCCACACA___GCCCTTGGTCTTAGGCGAGATGATACATTTTCTGTTACAATGCTTGGTCATTGCATCGAAATGTACATTGGTGATTCTGAAGCTTATATTG___GAGCAGACATTAAAGACAAATTAAAATGTTATGACTTTGATGTGCATACAATGAAGACACTAAAAAACATTATTTCACCTCCGTGGGATTTCAGGGAATTTGAAGTAGAAAAACAGACTGCAGAAGAAACGGGGCTTACGCCATTGGAAACCTCAAGGAAAACTCCAGATTCCAGACCTTCCTTGGAAGAAACCTTTGAAATTGAAATGAATGAAAGTGACATGATGTTAGAGACATCTATGTCAGACCACAGCACGTGACTCCAGTCAGTGGTCCTGGTCCCACTGTCCCAGTGTAGGTTAGTATTCCTTCACATCCTCTCCATGGCTTAAGAATGTCCCACTTCCTAACGTGACTCCAAACTGCATCTCTACATTTAGGAACAGAGACCCGCCTTAAGAGACTGGATCGCACACCTTTGCAACAGATGTGTTCTGATTCTCTGAACCTACAAAATAGTTATACATAGTGGAATAAAGAAGGTAAACCATCTGTTATGTCTTTTTTTTTCTTTTCCAATAAACTTTTATTTTGGACTAA)$ MFDCWRFILCKRPGSNSYSSPQqPNEAKKEETDHQIDVSDVIRLVQDTPEATAMAT|akpqhlrkpmdlhg* 11BR012 ENSG00000157110.16 ENSG00000253363.7 +/+ -/- chr8:30504436 chr8:36455244 CDS/splice-site intron inversion 5 0 0 368 13 medium out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000157110.16 ENSG00000253363.7 ENST00000320203.8 . downstream downstream . ^(AAAGGGAGCTGCTTCCATCCCGGACTTCCCAGAGCCTGCCTGGAGCGCGTACTCAGCGGCTCTCGGGTCCCAGCGTCCCAGCCGCGGCCCGCGCTCCTCCGCCCCGCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCTCTAGGCACCCCCGTCCCCTCCTTCCAGCGGCTGCAGCCCCCAGCCCCAACTCTCCGCGCTTACTCCTGGGACGCGCGTCCTCGCCCCATCCTTTGCTTCCTTCCTTCCTTCCTTCTTCCTTCCTCCCCTGGCTCCCGCCCTCCCTCTCCAGGTCGCCCTCCCGGGGCCCGATTGTCTCGGTGCCCCGCTCCCGGCCCGCGCCCTGCCCCGTCTCTCCCTTGCACTTCCTGAGTCGCCCGCCGCCGCCGTCGCAGACTCGCCGCGGGAGCCCCAGCCCAACCCGAGCCCGACAGCCACTGCCCCGGCTCCAGCTCCAGCCCCACAGCCCGCGGCGCCCGCCCGAGGGAGCCCCGGCGCCCGGGGAAGGCTCCAGTGGGCTAGCGCGCCCTCGCCCAGCCCCGCGCCCCAGCCCTGCCCGGCCCGGCGAGGAAGGACCGGGAAGATGAACAACGGCGGCAAAGCCGAGAAGGAGAACACCCCGAGCGAGGCCAACCTTCAGGAGGAGGAG___GTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAG___GGCTATGAGGGTTCTCTTATAAAGCTCACATCTAAACAG___CCTGTAG)GTTTTGTCAGTTTTGACAGTCGCTCAGAAGCAGAGGCTGCAAAGAATGCTTTGAAT___GGCATCCGCTTCGATCCTGAAATTCCGCAAACACTACGACTAGAGTTTGCTAAGGCAAACACGAAGATGGCCAAGAACAAACTCGTAGGGACTCCAAACCCCAGTACTCCTCTGCCCAACACTGTACCTCAGTTCATTGCCAGAGAGCCAT|GGCATCTGCAGATGGTGTCCAGAGTCCAGAAAGTCAAGTCATTCCAAGAGCTGCCAGAATGGG MNNGGKAEKENTPSEANLQEEEVRTLFVSGLPLDIKPRELYLLFRPFKGYEGSLIKLTSKQPVGFVSFDSRSEAEAAKNALNGIRFDPEIPQTLRLEFAKANTKMAKNKLVGTPNPSTPLPNTVPQFIAREP|whlqmvsrvqkvksfqelpew 11BR012 ENSG00000147586.10 ENSG00000253661.2 -/- -/- chr8:80002999 chr8:76502846 CDS/splice-site exon/splice-site deletion 4 1 0 667 1 medium out-of-frame . . . . ENSG00000147586.10 ENSG00000253661.2 ENST00000276585.9 ENST00000522961.1 upstream downstream . GGTTCTCCAAAAAATGTGGAATCCTTTGCATCTATGCTGAGACATTCTCCTCTTACACAGATGGGACCTGCAAAGGATAAACTGGTCATTGGACGGATCTTTCATATTGTGGAGAATGATCTGTACATAGATTTTGGTGGAAAGTTTCATTGTGTATGTAGAAGACCAGAAGTGGATGGAGA|GTGTGTTGCTGGCAATATGTGGCCCCAGGGGAGAGGCAAAAGTGGAGGTTCCCGAGTCATCTG(AGATTTGTTGCCTCGGAACAGGATCCACAGCTCAATAATA___GTCACTGTACTGTCATTGTTTATTTGAAATCT)$ GSPKNVESFASMLRHSPLTQMGPAKDKLVIGRIFHIVENDLYIDFGGKFHCVCRRPEVDGe|cvagnmwpqgrgksggsrvi* 11BR012 ENSG00000196365.12 ENSG00000165973.19 -/- +/- chr19:5694893 chr11:21396058 CDS intron translocation/5'-5' 3 0 1 6 25 medium out-of-frame . ATP-dependent_protease_La_(LON)_substrate-binding_domain_(100%),ATPase_family_associated_with_various_cellular_activities_(AAA)(100%)| . . ENSG00000196365.12 ENSG00000165973.19 ENST00000540670.6 . upstream downstream . ^(AGACGAATCCCGGGAAGCCCGAATCCGCGCACCCCAAAGTGCGCTCAGAGCCTGAGTATGCGCACCCGGCCACCCGTGGCCAGTCTAGAGTCTGAGCATGCGCATGTTGTCCGCGCGCCTAAGCATGTGCACAGGCTGCTCATGAGTTCCTAAACGTTGCGTTTGCAACACTACCAGTGTTTTGTACGGGCGCTGGCGCCTGCTCACAGCCTTCCACGTGACCGGAAAAGGCCTTCAGCGCATAAAGTGGGAGACCGGAAGAGGCGGAGACGATCCGATGCTCGAACTCCGCCCCCTCTTCTCCGCGTAGGCCCAGCTCCCTGAAGCGGCTGTTTCGAGCCACGCGCCCATCGG___GTTAAAAATAAGAAGTTGGTTGAGCTGCTGAGAAGGAAAGTTCGTCTCGCCCAGCCTTATGTCGGCGTCTTTCTAAAGAGAGATGACAG___CAATGAGTCGGATGTGGTCGAGAGCCTGGATGAAATCTACCACACGGGGACGTTTGCCCAGATCCATGAGATGCAGGACCTTGGGGACAAGCTGCGCATGATCGTCATGGGACACAGAAG___AGTCCATATCAGCAGACAGCTGGAGGTGGAGCCCGAGGAGCCGGAGGCGGAGAACAAGCACAAGCCCCGCAGGAAGTCAAAGCGGGGCAAGAAGGAGGCGGAGGACGAGCTGAGCGCCAGGCACCCGGCGGAGCTGGCGATGGAGCCCACCCCTGAGCTCCCGGCTGAGGTGCTCATGGTGGAGGTAGAGAACGTTGTCCACGAGGACTTCCAGGTCACGGAGGAGGTGAAA___GCCCTGACTGCAGAGATCGTGAAGACCATCCGGGACATCATTGCCTTGAACCCTCTCTACAG___GGAGTCAGTGCTGCAGATGATGCAGGCTGGCCAGCGGGTGGTGGACAACCCCATCTACCTGAGCGACATGGGCGCCGCGCTCACCGGGGCCGAGTCCCATGAGCTGCAGGACGTCCTGGAAGAGACCAAT___ATTCCTAAGCGGCTGTACAAGGCCCTCTCCCTGCTGAAGAAGGAATTTGAACTGAGCAAGCTGCAGCAGCGCCTGGGGCGGGAG___GTGGAGGAGAAGATCAAGCAGACCCACCGTAAGTACCTGCTGCAGGAGCAGCTAAAGATCATCAAGAAGGAGCTGGGCCTGGAGAAGGACGACAAGGATGCCATCGAGGAGAAGTTCCGGGAGCGCCTGAAGGAGCTCGTGGTCCCCAAGCACGTCATGGATGTTGTGGACGAGGAGCTGAGCAAGCTGGGCCTGCTGGACAACCACTCCTCGGAGTTCAA___TGTCACCCGCAACTACCTAGACTGGCTCACGTCCATCCCTTGGGGCAAGTACAGCAACGAGAACCTGGACCTGGCGCGGGCACAGGCAGTGCTGGAGGAAGACCACTACGGCATGGAGGACGTCAAGAAACGCATCCTG___GAGTTCATTGCCGTTAGCCAGCTCCGCGGCTCCACCCAGGGCAAGATCCTCTGCTTCTATGGCCCCCCTGGCGTGGGTAAGACCAGCATTGCTCGCTCCATCGCCCGCGCCCTGAACCGAGAGTACTTCCGCTTCAGCGTCGGGGGCATGACTGACGTGGCTGAGATCAAGGGCCACAG___GCGGACCTACGTGGGCGCCATGCCCGGGAAGATCATCCAGTGTTTGAAGAAGACCAAGACGGAGAACCCCCTGATCCTCATCGACGAG___GTGGACAAGATCGGCCGAGGCTACCAGGGGGACCCGTCGTCGGCACTGCTGGAGCTGCTGGACCCAGAGCAGAATGCCAACTTCCTGGACCACTACCTGGACGTGCCCGTGGACTTGTCCAAG___GTGCTGTTCATCTGCACGGCCAACGTCACGGACACCATCCCCGAGCCGCTGCGAGACCGTATGGAGATGATCAACGTGTCGGGCTACGTGGCCCAGGAGAAGCTGGCCATTGCGGAG___)CGCTACCTG|ATATAGAAGTGAAAACTGCCTCAGCC MQDLGDKLRMIVMGHRRVHISRQLEVEPEEPEAENKHKPRRKSKRGKKEAEDELSARHPAELAMEPTPELPAEVLMVEVENVVHEDFQVTEEVKALTAEIVKTIRDIIALNPLYRESVLQMMQAGQRVVDNPIYLSDMGAALTGAESHELQDVLEETNIPKRLYKALSLLKKEFELSKLQQRLGREVEEKIKQTHRKYLLQEQLKIIKKELGLEKDDKDAIEEKFRERLKELVVPKHVMDVVDEELSKLGLLDNHSSEFNVTRNYLDWLTSIPWGKYSNENLDLARAQAVLEEDHYGMEDVKKRILEFIAVSQLRGSTQGKILCFYGPPGVGKTSIARSIARALNREYFRFSVGGMTDVAEIKGHRRTYVGAMPGKIIQCLKKTKTENPLILIDEVDKIGRGYQGDPSSALLELLDPEQNANFLDHYLDVPVDLSKVLFICTANVTDTIPEPLRDRMEMINVSGYVAQEKLAIAERYL|i* 11BR012 ENSG00000171105.14 ENSG00000262655.4 -/- +/- chr19:7152726 chr11:14261482 CDS/splice-site intron translocation/5'-5' 3 1 0 315 7 medium out-of-frame . Fibronectin_type_III_domain(100%),Furin-like_cysteine_rich_region(100%),Receptor_L_domain(100%)| . . ENSG00000171105.14 ENSG00000262655.4 ENST00000302850.10 . upstream downstream . ^(AGATCCGCGCCGCCTTTTCCCGCGGCCCGCACGGGGCCCAGCTGACGGGCCGCGTTGTTTACGGGCCCGAGCAGCCCTCTCTCCCGCCGCCCGCCCGCCACCCGCCAGCCCAGGTGCCCGCCCGCCAGTCAGCTAGTCCGTCGGTCCGCGCGTCCCTCTGTCCCGGAGCCCGCAGATCGCGACCCAGAGCGCGCGGGGCCGAGAGCCGAGAGACAGTCCCGGGCGCAGCGCGGAGCTCCGGGCCCCGAGATCCTGGGACGGGGCCCGGGCCGCAGCGGCCGGGGGGTCGGGGCCACCACCGCAAGGGCCTCCGCTCAGTATTTGTAGCTGGCGAAGCCGCGCGCGCCCTTCCCGGGGCTGCCTCTGGGCCCTCCCCGGCAGGGGGGCTGCGGCCCGCGGGTCGCGGGCGTGGAAGAGAAGGACGCGCGGCCCCCAGCGCCTCTTGGGTGGCCGCCTCGGAGCATGACCCCCGCGGGCCAGCGCCGCGCGCTCTGATCCGAGGAGACCCCGCGCTCCCGCAGCCATGGCCACCGGGGGCCGGCGGGGGGCGGCGGCCGCGCCGCTGCTGGTGGCGGTGGCCGCGCTGCTACTGGGCGCCGCGGGCCACCTGTACCCCGGAGAGG___TGTGTCCCGGCATGGATATCCGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAACTCATCATGATCACTGATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAGGACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCGCTGGTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAGGAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAGACCAACTGCCCCGCCACCGTCATCAACGGGCAGTTTGTCGAACGATGTTGGACTCATAGTCACTGCCAGAAAG___TTTGCCCGACCATCTGTAAGTCACACGGCTGCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTGGGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTGGACGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGTGTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGAACTCGCGGAGGCAGGGCTGCCACCAGTACGTCATTCACAACAACAAGTGCATCCCTGAGTGTCCCTCCGGGTACACGATGAATTCCAGCAA___CTTGCTGTGCACCCCATGCCTGGGTCCCTGTCCCAAGGTGTGCCACCTCCTAGAAGGCGAGAAGACCATCGACTCGGTGACGTCTGCCCAGGAGCTCCGAGGATGCACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCA___ACAATCTGGCAGCTGAGCTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGCCGATCCTACGCTCTGGTGTCACTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTGGAAATTGG___GAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTGGGACTGGAGCAAACACAACCTCACCATCACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAACTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAGAGAAACGACATTGCCCTGAAGACCAATGGGGACCAGGCATCCT___GTGAAAATGAGTTACTTAAATTTTCTTACATTCGGACATCTTTTGACAAGATCTTGCTGAGATGGGAGCCGTACTGGCCCCCCGACTTCCGAGACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGC___CCCTTATCAGAATGTGACGGAGTTCGACGGGCAGGATGCGTGTGGTTCCAACAGTTGGACGGTGGTAGACATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGATGCGGGGTCTCAAGCCCTGGACCCAGTATGCCATCTTTGTGAAGACCCTGGTCACCTTTTCGGATGAACGCCGGACCTATGGGGCCAAGAGTGACATCATTTATGTCCAGACAGATGCCACCA___ACCCCTCTGTGCCCCTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATTCTGAAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAGAGGCAGGCGGAAGACAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAG___GGCTGAAGCTGCCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAG)ATTCTCAGAAGCACAACCAGAGTGAGTATGAGGATTCGGCCGGCGAATGCTGCTCCTGTCCAAAGACAGACTCTCAGATCCTGAAGGAGCTGGAGGAGTCCTCGTTTAGGAAGACGTTTGAGGATTACCTGCACAACGTGGTTTTCGTCCCCAG|ATGGAGAAACTGAGGAACAGAGGTGCTGAGTCATCGGCTGAAGGTTACTAGCTAGGGGAGGGAGGATGAACGACTGCAAGTACATGCTGGAGGGGGCCAGAGC MATGGRRGAAAAPLLVAVAALLLGAAGHLYPGEVCPGMDIRNNLTRLHELENCSVIEGHLQILLMFKTRPEDFRDLSFPKLIMITDYLLLFRVYGLESLKDLFPNLTVIRGSRLFFNYALVIFEMVHLKELGLYNLMNITRGSVRIEKNNELCYLATIDWSRILDSVEDNYIVLNKDDNEECGDICPGTAKGKTNCPATVINGQFVERCWTHSHCQKVCPTICKSHGCTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYHFQDWRCVNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPSGYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGGNNLAAELEANLGLIEEISGYLKIRRSYALVSLSFFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSGTKGRQERNDIALKTNGDQASCENELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQNHPGWLMRGLKPWTQYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYCLKGLKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPr|wrn* 11BR012 ENSG00000135870.12 ENSG00000174502.19 -/- -/- chr1:174022096 chr1:205935838 5'UTR/splice-site 5'UTR/splice-site duplication 0 3 0 0 7 medium . . |STAS_domain(100%),Sulfate_permease_family(100%) . . ENSG00000135870.12 ENSG00000174502.19 ENST00000367696.7 ENST00000367134.2 upstream downstream . ^(GACAACGAGCGACTGGGCGGCGGAGGACGAGGAGGAGGAAGAGGAGGCCGAGCAACAAGATGGCCCCTGCTGCAGGAGCAGCCTCAGCAGCAGCAGGTGGGAGGCCGGAGGCGGTGCTGGCGGTGGCGGCGGCAGCCGTGGCCCGGCGGCCTGGGACAGAATCAGAGTCAACGGTGGCCTCGGCGGCGGCGGCGGCTGCCGCGGCGGTGGCGACGGCCGCGGGGACTCGGAGCT)GAGAGGAGCTGCTGCTCGGACCAGCGCG|CTTGTAAATGCCCCAGATATGAGCCAGCCCAGGCCCCGCTACGTGGTAGACAGAGCCGCATACTCCCTTACCCTCTTCGACGATGAGTTTGAGAAGAAGGACCGGACATACCCAGTGGGAGAGAAACTTCGCAATGCCTTCAG___ATGTTCCTCAGCCAAGATCAAAGCTGTGGTGTTTGGGCTGCTGCCTGTGCTCTCCTGGCTCCCCAAGTAC(AAGATTAAAGACTACATCATTCCTGACCTGCTCGGTGGACTCAGCGGGGGATCCATCCAGGTCCCACAAG___GCATGGCATTTGCTCTGCTGGCCAACCTTCCTGCAGTCAATGGCCTCTACTCCTCCTTCTTCCCCCTCCTGACCTACTTCTTCCTGGGGGGTGTTCACCAGATGGTGCCAG___GTACCTTTGCCGTTATCAGCATCCTGGTGGGTAACATCTGTCTGCAGCTGGCCCCAGAGTCGAAATTCCAGGTCTTCAACAATGCCACCAATGAGAGCTATGTGGACACAGCAGCCATGGAGGCTGAGAGGCTGCACGTGTCAGCTACGCTAGCCTGCCTCACCGCCATCATCCAG___ATGGGTCTGGGCTTCATGCAGTTTGGCTTTGTGGCCATCTACCTCTCCGAGTCCTTCATCCGGGGCTTCATGACGGCCGCCGGCCTGCAGATCCTGATTTCGGTGCTCAAGTACATCTTCGGACTGACCATCCCCTCCTACACAGGCCCAGGGTCCATCGTCTTT___ACCTTCATTGACATTTGCAAAAACCTCCCCCACACCAACATCGCCTCGCTCATCTTCGCTCTCATCAGCGGTGCCTTCCTGGTGCTGGTGAAGGAGCTCAATGCTCGCTACATGCACAAGATTCGCTTCCCCATCCCTACAGAGATGATTGTG___GTGGTGGTGGCAACAGCTATCTCCGGGGGCTGTAAGATGCCCAAAAAGTATCACATGCAGATCGTGGGAGAAATCCAACGCGG___GTTCCCCACCCCGGTGTCGCCTGTGGTCTCACAGTGGAAGGACATGATAGGCACAGCCTTCTCCCTAGCCATCGTGAGCTACGTCATCAACCTGGCTATGGGCCGGACCCTGGCCAACAAGCACGGCTACGACGTGGATTCGAACCAG___GAGATGATCGCTCTCGGCTGCAGCAACTTCTTTGGCTCCTTCTTTAAAATTCATGTCATTTGCTGTGCGCTTTCTGTCACTCTGGCTGTGGATGGAGCTGGAGGAAAATCCCAG___GTGGCCAGCCTGTGTGTGTCTCTGGTGGTGATGATCACCATGCTGGTCCTGGGGATCTATCTGTATCCTCTCCCTAAG___TCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGT___TGCATCTGGGTAGTGAGCTTCCTCTCCTCCTTCTTCCTCAGCCTGCCCTATGGTGTGGCAGTGGGTGTCGCCTTCTCCGTCCTGGTCGTGGTCTTCCAGACTCAGTT___TCGAAATGGCTATGCACTGGCCCAGGTCATGGACACTGACATTTATGTGAATCCCAAGACCTATAATAGG___GCCCAGGATATCCAGGGGATTAAAATCATCACGTACTGCTCCCCTCTCTACTTTGCCAACTCAGAGATCTTCAGGCAAAAGGTCATCGCCAAG___ACAGGCATGGACCCCCAGAAAGTATTACTAGCCAAGCAAAAATACCTCAAGAAGCAGGAGAAGCGGAGAATGAGGCCCACACAACAGAGGAGGTCTCTATTCATGAAAACCAAG___ACTGTCTCCCTGCAGGAGCTGCAGCAGGACTTTGAGAATGCGCCCCCCACCGACCCCAACAACAACCAGACCCCGGCTAACGGCACCAGCGTGTCCTATATCACCTTCAGCCCTGACAGCTCCTCACCTGCCCAGAGTGAGCCACCAGCCTCCGCTGAGGCCCCCGGCGAGCCCAGTGACATGCTGGCCAGCGTCCCACCCTTCGTCACCTTCCACACCCTCATCCTGGACATGAGTGGAGTCAGCTTCGTGGACTTGATGGGCATCAAGGCCCTGGCCAAG___CTGAGCTCCACCTATGGGAAGATCGGCGTGAAGGTCTTCTTGGTGAACATCCATG___CCCAGGTGTACAATGACATTAGCCATGGAGGCGTCTTTGAGGATGGGAGTCTAGAATGCAAGCACGTCTTTCCCAGCATACATGACGCAGTCCTCTTTGCCCAGGCAAATGCTAGAGACGTGACCCCAGGACACAACTTCCAAGGG___GCTCCAGGGGATGCTGAGCTCTCCTTGTACGACTCAGAGGAGGACATTCGCAGCTACTGGGACTTAGAGCAG___GAGATGTTCGGGAGCATGTTTCACGCAGAGACCCTGACCGCCCT___AGAGAGCCTCTCAGCAGCAGGGGGGTGCTACCCTTACAGGAGTGAGAGTCTGGTGAGCCCACTCTTCACCCGTCAGGCCCTGGCCGCAATGGACAAGCCTCCTGCTCACTCCACCCCACCCACCTCTGCCCTGTCCTTGGCAGCTGAAGGACACCTTGACTTCCAGCTTTTACGAGTGAGCCAAAAACAGAAGGACAAGTACAACTGTGCTGGCCTGCTGTACAAGCTTCAAAAAGTGTCCCAGAGCCCACACGGCTCGGTGTCAGATGGTGTCAGGCTGTCACGGACATAGGGATAAACTTGGTTAGGACTCTGGCTTGCCTTCCCCAGCTGCCTCAACTCTGTCTCTGGCAGCTCTGCACCCAGGGACCATGTGCTCTCCACACCCAGGAGTCTAGGCCTTGGTAACTATGCGCCCCCCCTCCATCATCCCCAAGGCTGCCCAAACCACCACTGCTGTCAGCAAGCACATCAGACTCTAGCCTGGACAGTGGCCAGGACCGTCGAGACCACCAGAGCTACCTCCCCGGGGACAGCCCACTAAGGTTCTGCCTCAGCCTCCTGAAACATCACTGCCCTCAGAGGCTGCTCCCTTCCCCTGGAGGCTGGCTAGAAACCCCAAAGAGGGGGATGGGTAGCTGGCAGAATCATCTGGCATCCTAGTAATAGATACCAGTTATTCTGCACAAAACTTTTGGGAATTCCTCTTTGCACCCAGAGACTCAGAGGGGAAGAGGGTGCTAGTACCAACACAGGGAAAACGGATGGGACCTGGGCCCAGACAGTCCCCCTTGACCCCAGGGCCCATCAGGGAAATGCCTCCCTTTGGTAAATCTGCCTTATCCTTCTTTACCTGGCAAAGAGCCAATCATGTTAACTCTTCCTTATCAGCCTGTGGCCCAGAGACACAATGGGGTCCTTCTGTAGGCAAAGGTGGAAGTCCTCCAGGGATCCGCTACATCCCCTAACTGCATGCAGATGTGGAAAGGGGCTGATCCAGATTGGGTCTTCCTGCACAGGAAGACTCTTTAACACCCTTAGGACCTCAGGCCATCTTCTCCTATGAAGATGAAAATAGGGGTTAAGTTTTCCATATGTACAAGGAGGTATTGAGAGGAACCCTACTGTTGACTTGAAAATAAATAGGTTCCATGTGTAAGTGTTTTGTAAAATTTCAGTGGAAATGCACAGAAAATCTTCTGGCCTCTCATCACTGCTTTTCTCAAGCTTCTTCAGCTTAACAACCCCTTCCCTAACAGGTTGGGCTGGCCCAGCCTAGGAAAACATCCCCATTTCTAACTTCAGCCAGACCTGCGTTGTGTGTCTGTGTGTTGAGTGAGCTGGTCAGCTAACAAGTCTTCTTAGAGTTAAAGGAGGGGGTGCTGGCCAAGAGCCAACACATTCTTGGCCCAGGAGCATTGCTTTTCTGTGAATTCATTATGCCATCTGGCTGCCAATGGAACTCAAAACTTGGAAGGCGAAGGACAATGTTATCTGGGATTCACCGTGCCCAGCACCCGAAGTGCCAAATTCCAGGAGGACAAGAGCCTTAGCCAATGACAACTCACTCTCCCCTACTCCACCTCCTTCCAAGTCCAGCTCAGGCCCAGGAGGTGGGAGAAGGTCACAGAGCCTCAGGAATTTCCAAGTCAGAGTCCCCTTTGAACCAAGTATCTAGATCCCCTGAGGACTTGATGAAGTGATCCTTAACCCCCAAGTAATCATTAACCCCCAGACCAGCCTCAGAACTGAAGGAGATTGTTGACCCAGTGACCTGGAGTTGAGGCTCAGGGAGAGATCTGCCACATGTCTGAGGGTTGCAGAGCCCGCTGTGGAGGTAAGATTGGAAACACATGAGGCAGAGGGAAGACATTGAAGAAAACATCTCTGCTGGAATATTTGGAAAAGAACACTCTTCTGGACCTGGTTGAAGCAGGAAAGATGGAGGCAAAGTAGTGAAATAATCCAGAATTTCAATGCTTTTGAATGTTCTTAGTGATACTGACCTGTGATAATATAATTCCCAGGGAGGACTGGGAACCTTATCTCTTGAGATATTTGCATAATTTATTTAATTTAAGCCTCATTCTCCTTTTGTTCATTTTGGTAATAAACTGGATTTGAATTGTG)$ . 11BR012 ENSG00000132952.12 ENSG00000198730.9(12349),ENSG00000110321.18(4955) +/+ ./+ chr13:30618056 chr11:10792095 5'UTR/splice-site intergenic translocation 0 3 0 19 5 medium . . . . . ENSG00000132952.12 . ENST00000255304.9 . downstream upstream . ^(GCCTTCCTAGTGGAGACGCGAGTGGGGGAGGAGCAGTCCGA)GGGGAACGTGGGTTGAACGTTGCAACTAGGGTGGAGATCAAGCTGGAACAGGAGTTCCGATCGACCCGGTACCAAGAAGGGGAGTGCCCGCGGCAG|AACGTTGCTTCCAGAAGAAGACTGTCTCATTACTGTTACATCTCTGGCCCTGGAGTAGCCCCTGGCAAATATGTACTCAGTACATGTTTGCGAGACGCATGGACTTGTAGAACAGTTCCACAGCTGTCCATCACTGATGTTCCATACCTAGCGATGCGGCCCCTCGAAACGCACTGGAGAGCTGGGCAGACCAAGGATAATTTCAC . 11BR012 ENSG00000198168.9 ENSG00000255411.3 -/- +/+ chr11:22827207 chr11:13781259 CDS/splice-site intron inversion 0 3 0 148 20 medium out-of-frame . . . . ENSG00000198168.9 ENSG00000255411.3 ENST00000354193.5 ENST00000664710.1 upstream upstream . ^(AGCGCCGCCTGGCCTGGGCCGGACCCGGTCAGGGTTCTCAAGCTGTCGTCCCTATGGGGCTGTGTTTTCCTTGTCCCGGGGAGTCCGCGCCTCCCACGCCGGACCTG___GAAGAGAAAAGAGCAAAGCTTGCAGAGGCTGCAGAGAGAAGACAAAAAGAG___GCTGCAT)CTCGGGGAATTTTAGATGTTCAATCTGTGCAAGAAAAGAGAAAGAAAAAGGAAAAAATAGAAAAACAAATTGCTACATCCGGGCCCCCACCAGAAGGTGGACTTAGG|GGTGAATTCCTTCCCAGAAGACTCTTGGGCTCTTATTGCAAATACATTCGCAGTAGACTGGCGCCTCTAAGTCTAGTCATACCTCGTTCCTATGGTAACCACAGAGTGGCCTCCAGCTGGGACTCACAGCCATGTTTGCTTTCTGTTCAG___GCCCTCAGTGGACT...___ATGCCTCTTCCTGTCC MGLCFPCPGESAPPTPDLEEKRAKLAEAAERRQKEAASRGILDVQSVQEKRKKKEKIEKQIATSGPPPEGGLR|geflprrllgsyckyirsrlaplslviprsygnhrvasswdsqpcllsvqalsg 11BR012 ENSG00000254394.2 ENSG00000285744.1(226731),ENSG00000253659.2(76589) +/+ ./+ chr8:82073724 chr8:79182813 exon/splice-site intergenic duplication 0 2 0 0 3 medium . . . . . ENSG00000254394.2 . ENST00000663058.1 . downstream upstream . ^(GAAAACTGAACATGCATCTATAAAATGCATTGAACATCAAGCTTAATTTGCTTTTCTGACTAATCTACATAAATAAAGTTTCTCTCTGATAGTTGCTGCAGCTAGTAAAAATGACTGTATAGATGTTCTTAAATTTAGGAAGCCTCCTTAGGATAATTTGATTTAAAATCTAGGCTATTTCTCAAGTACGAAATTCACTTAGAGAAGACCCAGTAAACCTCTTAAAGAGATGTCTTCAGTGGAACTTAAAGCATTGATCTGCACAGAGCTGCTCTCACACTGCAACTGCATCCAGTTTGCTTCTAG___GATTTTCTTCTACCTTGAAAAAC)TGCACATAGTGAAGAGTTTCTTTGCCTTATTCCTGCAGTCTTAACATGTCCTACTGAGTAAAG|CACTTCTCCTTCCTGCCACCATGTGAAGAAGGACTTGTTTGTTATCCCTTCTGCCATGACTGTAATTTTCCTGAGGCCTCCCCAGCCATGC . 11BR012 ENSG00000130939.20 ENSG00000174502.19(28227),ENSG00000276600.5(5053) +/+ ./+ chr1:10072214 chr1:205971687 CDS/splice-site intergenic deletion 1 1 0 50 1 medium out-of-frame . . . . ENSG00000130939.20 . ENST00000672724.1 . downstream upstream . ^(GACGGGGTGGGACGGAGGCGGGGAGAGGACGCAGGCGAGAGGAACTCGGCGGCGCGGCGCCCGCGGCCTATTGGCTGCCACGTCCCGGCGCCAGAAGCCCCGCCTCCCTGACGGGGGTCACGTGATCCCTTTCAAAGATGGCCGCCCTGTTGTTTTGATGAATAATACTTGGTGGGGCGAGGGGGAAAGAGTAGGGGTGGAGGGGTAGGAGGATTTACTCTTCCAGCGAGAGCTACGCGCATCCCATCCTCCCCCTCCCCCCTACCCGGGCTCCGGCGTGGAGGCGGGGCGTGGCCGGCCTGCTTTGGGAGGGGAGGGGCTTCCCTTACAGTGCTGGGCTCTGCCAGGACGGCTGTGGGGTCGCCTTACCTCGGGGTATCCACTCTGCAGTCGACCAGTTCCCGCCAGGAGCAAAGGGTAGGAAGGAGAGCAGGATCTGCTGTAGGAACGCAGCTACCGCGCCACTATCACGAAGAAACAGCAGGCTCGGGGCACGAGACGAACTGGAGACCGCGCTGCCTAGCTGGGTAACCTGGGAAGCAGAGGGTAATAAGTGGCGCCTTAAGACAACCCTGTAGCAGCAGCAGTGGCGGCCAAAGGAGGCTGCTCAGGGAACAAGCGGCTGTAGTAGTCTGTGGGGCGACTGGAGTGACCGAAGCCAAGGCAGTTTAGTGCCTCTCGTGTTCTTATTTTTTAACCTCTGACTATGCAATTCTGAAACCTCCCCCATTCGGGGGACCAGACAGCCTGATAGACACCTTCCACTCTCCTTCCTCCCGCCGTGGTCTCGAGAACAGAAGGATCTCTCCTTAACGCCTTTCACCATTAAGAGGAAAGCGATGGAGGAGCTGAGCGCTGATGAG___ATTCGACGGAGGCGCCTTGCACGACTTGCTGGTGGAC)AGACCTCTCAGCCAACCACCCCACTCACCTCTCCCCAGAGGGAGAACCCTCCGGGGCCTCCCATAGCGGCATCAGCCCCAGGACCCTCTCAGAGTCTTGGTCTCAATGTCCACAACATGACCCCAGCTACCTCCCCAATAGGTGCATCAG|GCTGGAGTGCAGTGGTGCAGTCACGGATCACTGCAGCTTGGAACTCCTGGGCTCAAGCCATCCTCCGGCCTCAACCTCCTGAGTAGCTGGGACTACAG___GGATGGTGATGAAGGACCCCAGAAGCGCTGCCTGTACACCC MEELSADEIRRRRLARLAGGQTSQPTTPLTSPQRENPPGPPIAASAPGPSQSLGLNVHNMTPATSPIGAS|gwsavvqsritaawnswaqailrpqppe* 11BR012 ENSG00000110713.17 ENSG00000287912.1 -/- +/- chr11:3685973 chr11:81252969 CDS/splice-site intron duplication/5'-5' 2 0 0 59 0 medium out-of-frame . Nuclear_protein_96(100%),Nucleoporin_FG_repeat_region(100%),Nucleoporin_autopeptidase(100%)| . . ENSG00000110713.17 ENSG00000287912.1 ENST00000359171.8 . upstream downstream . ^(AACCGCGGCGGCGAGGGGCGGGACTCCACGGCCCTCTCACCGCTCCTACCCTGTGCCTCCCCGAACTCCTTCTGCCCCTCCTCTTCCCTCTCGCCCCTTCCCCCTTCAGTTCGGTTTCAAAAGACGCGTTGCCCAATGAATAACAGGGTCGACCCAGAGTGGCGGCCGCGTCCACCAATTCGCGGACGGCGAGGGCGGAGCGTCCGCAACGAGCCTCTGACGCCGGGCGGCGTGTGACGCAGTCGGGCCCTCTGCGCGCTGCGCCCGAAGCGGCGGTCGGTGGCAGGGGTGGTAGCGGCGGCGGCGACGGTTTCGTGGGGGCCGCGCGCTGCTCTGTGAGCGGCGGGTGGCAGCAGGGGACTCCTGACACTTCCCCTTCCCCACCGAACCGCG___CTTTCTGAAACAAAGACTCATTTTGAAGATGTTTAACAAATCATTTGGAACACCCTTTGGGGGTGGCACAGGTGGCTTTGGCACAACTTCAACATTTGGACAGA___ATACTGGCTTTGGCACTACTAGTGGAGGGGCATTTGGAACATCTGCATTTGGTTCTAGCAACAATACTGGAGGCCTCTTTGGAAATTCACAGACTAAACCAG___GAGGATTGTTTGGAACCAGTTCATTTAGCCAGCCAGCTACCTCCACAAGCACTGGCTTTGGGTTTGGTACGTCAACAGGAACAGCAAATACCTTGTTTGGAACTGCAAGCACAGGGACCAGTCTCTTCTCATCCCAAAACAATGCCTTTGCACAAAATAAACCAACTGGCTTTGGCA___ATTTTGGAACCAGTACTAGCAGTGGAGGACTCTTTGGAACCACAAATACCACCTCTAATCCTTTTGGCAGCACATCTGGCTCCCTCTTTGGGCCAAGTAGTTTTACAGCTGCTCCTACTGGGACTACTATTAAATTTAAC___CCTCCAACTGGTACAGATACTATGGTCAAAGCTGGAGTTAGCACTAACATAAGTACCAAGCACCAGTGTATTACTGCTATGAAAGAATATGAAAGCAAGTCACTAGAG___GAACTTCGTTTAGAGGATTATCAGGCTAACAGGAAGGGCCCACAGAACCAGGTGGGAGCAGGTACCACAACTGGCTTGTTTGGGTCTTCTCCAGCCACTTCCAGCGCAACAGGACTCTTCAGCTCCTCCACCACTAATTCAGGCTTTGCATATGGTCAGAACAAAACTGCCTTTGGAACTA___GTACAACTGGATTTGGAACAAATCCAGGTGGTCTCTTTGGCCAACAGAATCAGCAGACTACCAGCCTCTTCAGCAAACCATTTGGCCAGGCTACAACCACCCAGAACACTGGCTTTTCCTTTGGTAATACCAGCACCATAGGACAGCCAAGCACCAACACCATG___GGATTATTTGGAGTAACCCAAGCCTCACAGCCTGGAGGTCTTTTTGGGACAGCTACAAACACCAGCACTGGGACAGCATTTGGAACAGGAACAGGTCTCTTTGGGCAGACCAATACTGGATTTGGTGCTGTTGGTTCG___ACCCTGTTTGGCAATAACAAGCTTACTACATTTGGAAGCAGCACAACCAGTGCACCTTCATTTGGTACAACCAGTGGCGGGCTCTTTGGTAACAAACCAACCCTGACTTTAGGAACCAATACAAACACTTCTAATTTTG___GTTTTGGCACAAATACCAGTGGGAATAGTATTTTTGGAAGTAAACCAGCACCTGGGACTCTTGGAACTGGGCTTGGTGCAGGATTTGGAACAG___CTCTTGGTGCTGGACAGGCATCTTTGTTTGGGAACAACCAACCTAAGATTGGAGGGCCTCTTGGTACAGGAGCCTTTGGGGCCCCTGGATTTAATACTACGACAGCCACTTTGGGCTTTGGAGCCCCCCAGGCCCCAGTAG___CTTTGACAGATCCAAATGCTTCTGCTGCCCAGCAGGCTGTTCTCCAGCAGCACATCAATAGTCTAACATACTCACCTTTTGGAGACTCTCCTCTCTTCCGGAATCCGATGTCAGACCCTAAGAAGAAGGAAGAG___AGATTGAAACCAACAAATCCAGCAGCCCAGAAGGCTCTTACTACACCTACTCATTATAAACTGACACCCCGCCCTGCCACTAGAGTCCGGCCAAAGGCTTTACAAACAACAGGCACAGCCAAGTCACATCTCTTTGATGGGCTGGATGACGATGAACCATCCCTAGCCAATGGAGCATTCATGCCCAA___GAAGAGCATTAAGAAGTTGGTTTTGAAGAACCTTAATAATAGCAATCTCTTTTCTCCTGTTAATCGTGATTCAGAAAATCTAGCTTCACCATCTGAATATCCAGAAAATGGAGAGAG___ATTTAGTTTCCTAAGCAAACCTGTTGATGAGAATCACCAGCAGGATGGAGATGAAGATTCCCTTGTTTCACATTTTTATACTAACCCTATTGCCAAACCTATTCCTCAAACCCCAGAAAGTGCTGGAAATAAACACAGCAACAGCAACAGTGTGGATGATACCATTGTTGCATTAAACATGCGTGCTGCTTTGCGAAATGGGCTGGAAGGAAGCAGTGAAGAAACGTCTTTTCATGATGAGTCACTTCAGGATGACCGAGAAGAAATAGAAAATAATTCTTACCATATGCACCCAGCAG___GTATTATTCTCACTAAGGTTGGTTACTATACTATTCCATCTATGGATGACCTTGCTAAAATTACCAATGAAAAAGGAGAGTGCATTGTCTCTGATTTCACTATTGGTCGGAAAG___GTTATGGTTCAATCTATTTTGAAGGAGATGTGAATTTGACAAATCTAAATTTGGATGATATTGTGCATATCCGGAGGAAAGAAGTAGTTGTCTACTTAGATGATAACCAAAAACCACCTGTGGGTGAAGGGCTAAATAG___GAAGGCTGAAGTTACATTGGATGGAGTTTGGCCAACAGATAAAACATCTCGTTGTTTAATAAAGAGCCCAGATCGCCTTGCTGATATCAACTATGAAGGAAGATTGGAAGCAGTTTCAAGGAAACAGGGAGCTCAATTCAAAGAATACCGGCCTGAAACTGGTTCTTGGGTGTTTAAG___GTCTCCCATTTTTCTAAGTATGGCCTTCAGGATTCTGATGAAGAGGAGGAGGAGCATCCGTCTAAAACTAGTACAAAGAAGTTGAAGACTGCTCCTTTGCCTCCTGCAAGCCAGACTACGCCCTTGCAGATGGCTCTTAATGGCAAACCTGCACCTCCACCTCAG___AGCCAGAGCCCAGAGGTGGAGCAGTTAGGGAGGGTTGTGGAACTGGACAGTGACATGGTAGATATCACCCAGGAGCCAGTTTTGGATACCATGTTAGAAGAGAGCATGCCTGAGGATCAGGAACCTGTGTCTGCCTCAACACATATTGCATCTTCACTGGGAATTAATCCACATGTCTTACAG___ATCATGAAAGCATCATTGCTTACTGATGAAGAAGATGTAGATATGGCACTGGATCAACGCTTCAGTCGCCTGCCTTCCAAAGCAGATACTTCTCAAGAAATCTGTTCTCCCAGACTCCCCATTTCAGCATCCCACTCGTCGAAAACTCGTTCACTAG___TTGGTGGGTTACTACAATCAAAATTTACAAGTGGAGCTTTTCTTTCACCAAGTGTCTCTGTGCAAGAATGTCGTACTCCCAGAGCAGCATCTTTAATGAATATCCCATCCACATCCTCTTGGTCTGTCCCTCCACCCCTGACTTCTGTGTTCACAATGCCCAGCCCAGCCCCTGAGGTTCCGTTGAAAACAGTGGGTACACGTAGGCAACTAGGCCTAGTCCCTCGTGAAAAGTCTGTCACCTATGGCAAGGGAAAACTCTTGATGGACATGGCCCTATTCATGGGACGCTCATTTCGTGTTGGTTGGGGCCCCAACTGGACTCTTGCTAATAGTGGAGAACAGCTGAATGGCTCTCATGAACTAGAAAATCATCAGATTGCCGATTCCATGGAGTTTGGATTCCTGCCCAATCCAGTAGCTGTTAAACC___CCTAACTGAGTCCCCATTCAAAGTTCACTTAGAAAAACTCAGTTTGAGACAAAGAAAGCCAGATGAAGACATGAAATTATATCAGACACCTCTGGAGCTCAAATTAAAACACAGCACTGTCCATGTGGATGAACTGTGTCCTCTCATTGTCCCCAATCTGGGAGTTGCTGTCATTCATGACTATGCAGATTGGGTTAAAGAAGCATCAGGAGACTTACCAGAAGCACAAA___TTGTGAAGCACTGGAGCCTGACATGGACACTATGTGAAGCCCTATGGGGCCACCTGAAGGAGCTTGACAGCCAGCTAAATGAACCCCGTGAATACATTCAAATTCTGGAGCGAAGAAGAGCTTTCTCCCGCTGGCTATCCTGTACTGCCACACCTCAGATTGAAGAGGAAGTCTCCTTAACCCAAAAAAACAGCCCTGTGGAGGCTGTATTCAGCTACCTCACAGGCAAAAGGATCAGTGAGGCCTGCTCTCTGGCCCAGCAGTCAG___GGGATCATCGTCTTGCTCTTCTTTTATCTCAGTTTGTGGGTAGCCAGTCAGTCCGGGAGCTGCTCACCATGCAGTTGGTGGACTGGCATCAGCTCCAAGCAGACTCCTTCATCCAGGATGAGAGACTGCGCATCTTTGCTCTGTTGGCTGGAAAACCG___GTGTGGCAGCTCTCAGAAAAGAAGCAAATAAACGTGTGCTCCCAGTTGGATTGGAAACGCTCCCTGGCTATCCATCTTTGGTATTTGCTTCCACCAACAGCCTCCATTTCTAGGGCGCTCAGCATGTATGAAGAAGCATTTCAG___AATACCTCTGACAGTGACAGATATGCCTGCTCCCCACTTCCTTCGTATCTGGAGGGTTCTGGCTGTGTGATAGCGGAGGAGCAAAACTCACAGACACCACTTCGAGATGTCTGCTTTCACCTTCTAAAACTCTACAGTGACAG___ACATTATGATCTCAACCAGCTGCTGGAGCCTCGAAGCATAACAGCAGATCCTTTGGACTACCGCCTAAGCTGGCACTTGTGGGAAGTGCTGA)GGGCTCTTAACTACACCCATCTCTCAGCGCAGTGTGAAGGTGTGCTACAGGCCAGTTACGCTGGCCAGCTTGAAAGTGAGGGGCTCTGGGAGTGGGCCATCTTTGTCCTCCTGCACATTGACAACTCAGG|TGTCCATTTTGCTTGGAGATGGATGCTAAGATGTAAACTGACTGGgAAG MFNKSFGTPFGGGTGGFGTTSTFGQNTGFGTTSGGAFGTSAFGSSNNTGGLFGNSQTKPGGLFGTSSFSQPATSTSTGFGFGTSTGTANTLFGTASTGTSLFSSQNNAFAQNKPTGFGNFGTSTSSGGLFGTTNTTSNPFGSTSGSLFGPSSFTAAPTGTTIKFNPPTGTDTMVKAGVSTNISTKHQCITAMKEYESKSLEELRLEDYQANRKGPQNQVGAGTTTGLFGSSPATSSATGLFSSSTTNSGFAYGQNKTAFGTSTTGFGTNPGGLFGQQNQQTTSLFSKPFGQATTTQNTGFSFGNTSTIGQPSTNTMGLFGVTQASQPGGLFGTATNTSTGTAFGTGTGLFGQTNTGFGAVGSTLFGNNKLTTFGSSTTSAPSFGTTSGGLFGNKPTLTLGTNTNTSNFGFGTNTSGNSIFGSKPAPGTLGTGLGAGFGTALGAGQASLFGNNQPKIGGPLGTGAFGAPGFNTTTATLGFGAPQAPVALTDPNASAAQQAVLQQHINSLTYSPFGDSPLFRNPMSDPKKKEERLKPTNPAAQKALTTPTHYKLTPRPATRVRPKALQTTGTAKSHLFDGLDDDEPSLANGAFMPKKSIKKLVLKNLNNSNLFSPVNRDSENLASPSEYPENGERFSFLSKPVDENHQQDGDEDSLVSHFYTNPIAKPIPQTPESAGNKHSNSNSVDDTIVALNMRAALRNGLEGSSEETSFHDESLQDDREEIENNSYHMHPAGIILTKVGYYTIPSMDDLAKITNEKGECIVSDFTIGRKGYGSIYFEGDVNLTNLNLDDIVHIRRKEVVVYLDDNQKPPVGEGLNRKAEVTLDGVWPTDKTSRCLIKSPDRLADINYEGRLEAVSRKQGAQFKEYRPETGSWVFKVSHFSKYGLQDSDEEEEEHPSKTSTKKLKTAPLPPASQTTPLQMALNGKPAPPPQSQSPEVEQLGRVVELDSDMVDITQEPVLDTMLEESMPEDQEPVSASTHIASSLGINPHVLQIMKASLLTDEEDVDMALDQRFSRLPSKADTSQEICSPRLPISASHSSKTRSLVGGLLQSKFTSGAFLSPSVSVQECRTPRAASLMNIPSTSSWSVPPPLTSVFTMPSPAPEVPLKTVGTRRQLGLVPREKSVTYGKGKLLMDMALFMGRSFRVGWGPNWTLANSGEQLNGSHELENHQIADSMEFGFLPNPVAVKPLTESPFKVHLEKLSLRQRKPDEDMKLYQTPLELKLKHSTVHVDELCPLIVPNLGVAVIHDYADWVKEASGDLPEAQIVKHWSLTWTLCEALWGHLKELDSQLNEPREYIQILERRRAFSRWLSCTATPQIEEEVSLTQKNSPVEAVFSYLTGKRISEACSLAQQSGDHRLALLLSQFVGSQSVRELLTMQLVDWHQLQADSFIQDERLRIFALLAGKPVWQLSEKKQINVCSQLDWKRSLAIHLWYLLPPTASISRALSMYEEAFQNTSDSDRYACSPLPSYLEGSGCVIAEEQNSQTPLRDVCFHLLKLYSDRHYDLNQLLEPRSITADPLDYRLSWHLWEVLRALNYTHLSAQCEGVLQASYAGQLESEGLWEWAIFVLLHIDNSg|vhfawrwmlrckltg 11BR013 ENSG00000157191.20 ENSG00000223653.6 +/+ +/- chr1:16449201 chr1:85292037 CDS/splice-site intron inversion/3'-3' 42 38 3 180 93 high out-of-frame . Protein_of_unknown_function_(DUF1681)(100%)| . . ENSG00000157191.20 ENSG00000223653.6 ENST00000337132.10 . downstream downstream duplicates(1),mismatches(1) ^(GGAAGTCGCCGGAAGTTCGGTGGGCTCCAGGCGTCGCGATGGAGGAGAGCGGGTACGAGTCGGTGCTCTGTGTCAAGCCTGACGTCCACGTCTACCGCATCCCTCCGCGGGCTACCAACCGTGGCTACAG___GGCTGCGGAGTGGCAGCTGGACCAGCCATCATGGAGTGGCCGGCTGAGGATCACTGCAAAGGGACAGAT)GGCCTACATCAAGCTGGAGGACAGGACGTCAG___GGGAGCTCTTTGCTCAGGCCCCGGTGGATCAGTTTCCTGGCACAGCTGTGGAGAGTGTGACGGATTCCAGCAGGTACTTCGTGATCCGCATCGAAGATGGAAATG___GGCGACGGGCGTTTATTGGAATTGGCTTCGGGGACCGAGGTGATGCCTTTGACTTCAATGTTGCATTGCAGGACCATTTCAA___GTGGGTGAAACAGCAGTGTGAATTTGCAAAACAAGCCCAGAACCCAGACCAAGGCCCTAAACTGGACCTGGGCTTCAAGGAGGGCCAGACCATCAAGCTCAACATCGCA|TCAGGATGACTTCAGAGAATCCTCTGTCCATGCCTCTGAGAACAACAAAGAAAAACAATGACCAGTTGAGATGCAGATCAGCTCTGGCACTGTTCATAAATTCTCCTAGAAGAAGTGCTTTCCAAGGAGTGGGAACATGACTTATAGTGATGCCAAACAACACCTGACACATAACACAGCCCTGTGGGGGTGTGGAGCAAAGAAGAAAGAGCAGTTTCATGTCAGCAAGCACTAAAATATTTCTAGAAGAAACCTGACCCCTAAATGTCTACGTCTACATATATTAACAAAATATTCTGTG MEESGYESVLCVKPDVHVYRIPPRATNRGYRAAEWQLDQPSWSGRLRITAKGQMAYIKLEDRTSGELFAQAPVDQFPGTAVESVTDSSRYFVIRIEDGNGRRAFIGIGFGDRGDAFDFNVALQDHFKWVKQQCEFAKQAQNPDQGPKLDLGFKEGQTIKLNIA|sg* 11BR013 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 29 35 2 110 92 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2),low_entropy(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGG)CCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR013 ENSG00000116704.8(33619),ENSG00000203963.11(4398) ENSG00000084073.9 ./- +/+ chr1:67087767 chr1:40268419 intergenic CDS/splice-site inversion 17 13 1 70 182 high . . |CAAX_prenyl_protease_N-terminal__five_membrane_helices(100%),Peptidase_family_M48(100%) . . . ENSG00000084073.9 . ENST00000372759.4 upstream upstream duplicates(1) AAAGCTTTGAGATAAG___...ACTGAATCTCCAACTGGATGAGCAATGCCATACTTGGAGATTGGGAGGAAGAACAGTGTCCTAAACAAGTCCATTCATCTTTGAACCTAAGCCATGCTGTGCAAACAT___AACTCCCAAGATGGTGACAGGCTGCTCCCAAGATGGTaGTGTCCACTCCCAAGATGGCAGCAAGCCTTTTGTTCTCTGACCTGGGGTTCTTGGCCTCACGGATTCCAAGGAATGGAACCTTGGGCCATTTG|ATCACTCAGTCCCTGGTGTTTCTGCTGTTGGCTACACTTTTCAGTGCATTGACTGGTTTGCCATGGAGTCTTTATAATACTTTTGTGATAGAAGAAAAACATGGCTTCAATCAACAG___ACTTTGGGGTTCTTCATGAAAGATGCAATCAAGAAATTTGTTGTGACTCAGTGTATTTTGTTGCCTGTGTCTTCACTTCTACTTTACATTATTAAAATTGGGGGTGACTATTTTTTTATTTATGCCTGGCTGTTCACATTAGTTGTGTCTCTG___GTTCTTGTCACAATCTATGCTGATTATATTGCCCCTTTATTTGACAAATTCACACCTCTGCC(TGAGGGAAAGCTTAAAGAAGAAATTGAAGTAATGGCAAAGAGTATTGACTTTCCTTTGACGAAGGTGTATGTTGTGGAAG___GATCTAAACGCTCTTCCCACAGCAATGCTTATTTTTATGGCTTCTTCAAGAACAAGCGAATAGTTTTGTTTGACACTCTACTAGAAGAGTACTCTGTACTAAACAAAGACATCCAGGAGGATTCTGGCATGGAACCCCGCAATGAGGAAGAAGGGAACAGTGAAGAAATAAAAGCTAAAGTTAAA___AATAAGAAACAAGGATGTAAAAATGAGGAGGTACTCGCTGTACTAGGCCATGAACTGGGGCACTGGAAGTTGGGACATACAGTCAAAAATATCATTATTAGCCAG___ATGAATTCTTTCCTGTGTTTTTTTTTATTTGCTGTATTAATTGGTCGAAAGGAGCTTTTTGCTGCATTTGGTTTTTATGATAGCCAACCCACTCTTATTGGACTATTGATCATCTTCCAGTTTATTTTTTCACCTTACAATGAG___GTTCTTTCTTTTTGCCTAACAGTCCTAAGCCGCAGATTTGAGTTTCAAGCTGATGCATTTGCCAAGAAACTTGGGAAGGCTAAAGACTTATATTCTGCTTTAATCAAACTTAACAAAGATAACTTGGGATTCCCTGTTTCTGACTGGTTGTTCTCAATGTGGCATTATTCTCATCCTCCACTGCTAGAGAGACTTCAAGCTTTGAAAACTATGAAGCAACACTGAGATGTCCAGGATCTGTGACTGAAGACATTTCTGATTATTTCTGTCCTGGCAGCATGTTCCAGCTCTTGATGTTTTTAAACTTTTTTTTAGAAGAAAAATTAAGTACAGAAAAGCCCAGATTTAAATACATTTAATATGTCATTTTAAAAATGATTTTAATAATTCATTTCTTAAAACACTGAATGAATTTTGAAGCTTAATGTTTTTAAAGGCATAGTTTTATCTTTGACATCTAATTTACCATCAAGTTGTAAAATTATTTGGAAAAATACAGAACTCGTTTTATTTGTATACTTATATGGAATCTGCATGTGAGGTGTTTGAGGGCATATGTTTGAAAGAGGGAGCATCACCACAGGAATCCTTTCTGTGAGGTGGAAACAGTGGTCCTGAATCATTGTGCTCACACCTAACTTGAAATCTGGTCTTACTTTCATGCTGTTATGATTTCACCTGGTGAATCAGTGTTTTAAATAAGAAAGGTAATAGTTGGTAAGGCCAATGTTATTTAAATGAAAGTAGTTAGAAAAATGCTCTCCTATTCTACCAAATTTTTAATTTCTTTCTTCCCTTTCTTGCTACACAGTGATCAAGAGTTTCTCATAGTGCTTTGAAGTTAGAAATTATGTATAGGATATTTTAAATCATTGAGTTTTGTGGGGTTTTTTTGTTTGTTTGTTTCTTTTGTTTTTTGGAAAATCCGTGTCTTTATCTTTTTTTCCCACGTGGTAGATATGATCCCATTGGAGGTAAATTGTAGCTTCTTCTCATTCATGCAGTAAATAATACATCCTTTCACTCAGCAGAGATGGCCATATTAAACACGTTTTGCTATGTTAAAAGTGGCAGAACAGGAAAGACGAATTAAAAATAACATTTTTTAAGCGACATAAGGATGAAATACTGATGAATCTCTGTGACATTACAGGGAAAAAAATATAGTTTTCTATCTCTTTCAAGGGCAGAAGAGTTTTCATTTTTATTTTTGTAATTTTATCTGTAAGTCATAAATATTACTTAATCAGGCCTGATTCTACTTTTGAAAATTACAGTTCTTGAAATGCAGATAATGTTTACTTTGAAAACAAATGTCATGAATGATTTCCAGTTTTTAAAGCTATATGTTTCACTGCTTCATATCTCTGTCCACTTTCTGAATGAGAACTTATTTTGTGCCTAGAGCTCTCACTCACTGATAATGCTTATTACCTTCTGGGCATTTATTCCAAAGTGGGATCAACTGTACGCCTTTGGTATCTGACCATAAAGTCTTTTGCTCCGCTGACATTTGGGTGATGTCTTCACATGGAAATATAATAAAAATAAAAATCTAGTTTAATACTGCATTATTTATTTTCCTAAGGCTAAAGAGGAGCAGTCCTATGCTTTTATTCAGCATCCTTTATCTGTGACTTCATGCTCTGATAACTGCCTTTCCTTCCTTCTGTGCCTTTGAATACAAATTTCAGTTCTGCAAAAGTGAAACATTAAACATTGCCAACGCAAATGTA)$ . 11BR013 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 19 9 1 30 36 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream . CTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGAC(CTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR013 ENSG00000121769.8 ENSG00000225087.2(17863),ENSG00000280317.1(61911) -/- ./+ chr1:31369385 chr1:72917103 CDS/splice-site intergenic inversion 4 24 0 91 72 high out-of-frame . Lipocalin_/_cytosolic_fatty-acid_binding_protein_family(100%)| . . ENSG00000121769.8 . ENST00000373713.7 . upstream upstream duplicates(2) ^(GCCGTCGGAGCCCTTGCACGCCTGCTCTCTTGTAGCTTCTCTCAGCCTAGCCCAGCATCACTATGGTGGACGCTTTCCTGGGCACCTGGAAGCTAGTGGACAGCAAGAATTTCGATGACTACATGAAGTCACTCG___GTGTGGGTTTTGCTACCAGGCAGGTGGCC)AGCATGACCAAGCCTACCACAATCATCGAAAAGAATGGGGACATTCTCACCCTAAAAACACACAGCACCTTCAAGAACACAGAGATCAGCTTTAAGTTGGGGGTGGAGTTCGATGAGACAACAGCAGATGACAGGAAGGTCAAG|GCTTAATAGTATTCCATTGTGCATACAGACCTCATTTTTTACTCCATTCATCTGTTGATGGCTGTATCTTGGCTCTTGAGAATAATGCAGCAATGAACATGGGAGTGCAG___GTAAAGCTACAGATCATCTCAAATTCAGTTCAAGTGAGAACAAAACGGGAGAACAGGA...___CTGAAAATGCATTGGCATTTATCTAATGACTGTAAGGAAGGC MVDAFLGTWKLVDSKNFDDYMKSLGVGFATRQVASMTKPTTIIEKNGDILTLKTHSTFKNTEISFKLGVEFDETTADDRKVK|a* 11BR013 ENSG00000142599.19 ENSG00000233359.2(269647),ENSG00000230864.1(104045) -/- ./- chr1:8422727 chr1:102659277 CDS/splice-site intergenic duplication 5 14 0 38 29 high . . BAH_domain(100%),ELM2_domain(100%)| . . ENSG00000142599.19 . ENST00000476556.5 . upstream downstream . ^(GAGCCGGAGCCCAGTGACAGGCGACGGCCTCTTGCCGCCCCGGACCC)CGGGCGCTTACCTGTGGCTGCTGGGGTCGGCCGCCCGGGACCAGGCTGGGAGCCCCGAG___AAACGCTTCGTTAAGGGACTCAGGCAGTACGGGAAGAACTTCTTCAGAATTAGAAAGGAGCTGCTTCCCAATAAGGAAACA|GTCTGCAGCTTCACTGCTGAGGCCAGCGAGACCACGAACCCACCGGGAGGAACGAACAACTCCAGACGCGCCGCCTTAAGAGCTGTAACACTCACCGCCAAGGTCTGCAGCTTCACTCCTGAGCCAGGGAGACCACGAACCCACCAGAAGGAAGAAACTCCGAGCACATCCTAACATCAGAAGGAACAAACTCCAGAGGCGCCACCTTAGGAGCTGTAACACTCACAGGGAGGGTGGGC . 11BR013 ENSG00000142784.16 ENSG00000171502.15(56640),ENSG00000285210.1(75292) +/+ ./+ chr1:27283449 chr1:86213412 CDS/splice-site intergenic deletion 9 8 0 70 38 high out-of-frame . WD_domain__G-beta_repeat(100%)| . . ENSG00000142784.16 . ENST00000319394.8 . downstream upstream duplicates(1) ^(GGGCTTCTCCTGGGTCCCCAGACAGCTGGAGGAGATAAACAGAGGAGGAGGAGGGAGGGGAGTGCGTGTGTGAGAGCGCGCGAGGGAGTGTGAGTGTGTGTGAGCGCGGGTGTGAGGCGGTGCGCAGGGGCGGGCGGAGGCGCTGTCCGGCCCCGGCCAGGCGCCGGGCGGGGAGCATGGGAAGGGGCTAGAACTGCTCGAGCCCCCCAGCCCCCTCCCCGGGATCCGCGCCCCCCTTCCCGGGAGAGGGGCCGCCCCCCCCGGACGGACATGGGCTCCTGAAGTTGCGCCGCTGCCGGTCGGGGGAAGAGACCTGACAG___GTAATTAAATGTGTATTTTGTGGACCTGGGCTTGGCTGGAATGCTCAGGGGTCCTGAAGATCCTATTATAGCTTCCTTCTGTTGAACCATTAAGAAAAGATGGCGAAAGTCAACATAACTAGAGACCTCAT)CCGTAGGCAGATCAAG___GAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAG___GGTCACTCAGGATGTGTCAACTGTCTGGAGTGGAATGAGAAAGGAGA___CTTGCTGGCCTCTGGTTCCaATGACCAGCACACGATTGTGTGGGACCCGCTGCACCACAAGAAGCTGCTCTCCATGCACACGGGACACACCGCAAATATCTTCTCTGTCAAG|GGCTAATGTCTCAGTGAAGCATCATTTACCTCAGAGGGGTGGACAGCAACCGGAGCAACCTTGGCCCATAGGAGGAGGAGAATGACAAGCAAACTGGAGGCAGGAGCCATTTCTGAGCCTCATGAGGCACTGGAATCTGGAAGCACAACTCTGGAACTCCATTAGTATCCTATTCTTGCTGCTCTAAGTGCCCG MAKVNITRDLIRRQIKERGALSFERRYHVTDPFIRRLGLEAELQGHSGCVNCLEWNEKGDLLASGSnDQHTIVWDPLHHKKLLSMHTGHTANIFSVK|g* 11BR013 ENSG00000198691.13 ENSG00000172380.6 -/- -/- chr1:94112973 chr1:67707712 CDS/splice-site 5'UTR/splice-site deletion 13 4 0 30 51 high out-of-frame . |GGL_domain(100%) . . ENSG00000198691.13 ENSG00000172380.6 ENST00000370225.4 ENST00000370982.4 upstream downstream duplicates(1) ^(GGACACAGCGTCCGGAGCCAGAGGCGCTCTTAACGGCGTTTATGTCCTTTGCTGTCTGAGGGGCCTCAGCTCTGACCAATCTGGTCTTCGTGTGGTCATTAGCATGGGCTTCGTGAGACAGATACAGCTTTTGCTCTGGAAGAACTGGACCCTGCGGAAAAGGCAAAAG___)ATTCGCTTTGTGGTGGAACTCGTGTGGCCTTTATCTTTATTTCTGGTCTTGATCTGGTTAAGGAATGCCAACCCgCTCTACAGCCATCATGAAT|ATTTCAGGTAAAAACAATAATTGAAGATGTCCAGCAAAACAGCAAGCACCAACAATATAGCCCAGGCAAGGAGAACTGTGCAGCAGTTAAGATTAGAAGCCTCCATTGAAAGAATAAAG___GTTTCGAAGGCATCAGCGGACCTCATGTCCTACTGTGAGGAACATGCCAGGAGTGACC(CTTTGCTGATAGGAATACCAACTTCAGAAAACCCTTTCAAGGATAAAAAAACTTGCATCATCTTATAGTGGAATAGAGAAACAGCTCCTCGCCTCTTCCCAACAACGCAAATTATGAGCAGCTCCTTGAAGAGATTTACCTTCAGCTTATTTGGTAACCACTGCTAATAACTAAAATGTTCTCAGCTTGGAATAATGGACTCTGAAGTCTCTATTTTCCAAGTTGTCCTTTCTCTTAAAATACCCTTTACTGATTTAATACAGAATAACAATCTTATTTTCCACTTGGTAACTATGGCTTTATGTTGGGTTACTGTTTAAGGAAAGTTGATCTGGGCCTTTTTAAAAACATAATTATATACTTTAGAAATACAAGGGATTCCGATATGTCAGGACCTAAATGGCCTAAGCACCTGTCAAATTAAAATTCCAAAATTCATTGAAATCCTAAAGCCTTGATATTATATTCTTTATAAGGCGTGTGCCAGCCTGTATAGTATATAAGAGAGAGGGGTGTTTGTGTGTATATATATATGCCTTTGTGTATACACTTATCAAAGCTATTTTCTTATGAAAACGTCCCTCTCTCCATACCATCAGTTTCTCAGTTCCAGAAGTTATACCTTTATTTTGAGCTGTGTATAGGTAGAATAAAAAATTCCTTTCATATCGTTATTGTACAAAAAGTAAAGAGTATCCTAAAGATTGTATTCATTGTAATCAAGTAATGCAATCATCTCTCCTCTCTTGAAATCTTGCTGGACCTCTTAGGCTACAATAAACTGTACCAAACTAAACTGACAGTCCTTCGATAATATGAAACATTAATTTACAAGGACCCGTTAGGGCTTCAATGATGCTGAGTCTGGAAAAGGGGAGGAGACCCTTGGGAGGACTCCAGGCAGCTGTGCTCCCAGGGCTCATGTTCTCTACTGGATTAGGGATAGGCACCTCTGAAATCTCCACCCTGATGATTGGAATGAAACGGAGTGAACATGAGCCCAGCTGAGAGAGGAGCAGGAATGTGTGAAAAACAGCTGCTCTCCTTGTCCCAGCTTTGTGATTGAGCCCTCTGTCTTGCTCTCTCTGCCTTCCCTGTGTCTTTCTTCTCTTACCAGAGCATCTGTTTGCAGAGGTAACATTACCTTCCCCAGCCACAGGTATGTGGAATACGGTGAGGAAAAAAAAAATTAAAAAAAAAATGCAAGCTGTCAGGATGCTTAAGCTCTTTTCAGACATCTGCAGTTTCATCCCTACCTTGTTCACATACCATCCAAGAGGCACATAGGCTACCCAAGAGAGCCTTGGATTCAGTGGTACACTCCTTGGGCCCAAGGGCTTTAGCAGCTGGATATGGGGTTCCTTGATTTTCCTCTGGGCCCAAATATAGCCCTCACACTCTTGGAATTTCCAGGTATGGGGGTAGCCCCAAAAGGAGGAATCTCCTATGGCCAATAAGGTATCTTGACTTTATCAAAGTAGAAGAGAGGGTCACTTCGGAGTCAAATCATACACTAGGCCTTTGATGCTTTAATTCTTCTTCAGTTCATTAAAAGTAACTACTAAGGAAAGGTTAAAAACTTCCCCTCAAAAAGGAATCAACCCCAGGAAGTAATTATTTACAACGATTTTCCCAAATTTTGTACAATCTGTCCTGGAAAGCAAACCCCTTTTAAAATCTAATGTCTGGGCTTTGAGTATTAGCTCATTTAGGGTGGACAAATGCATTACTGTTTTCAAACTGCTCACATTTATTCAGTATTTCTCCAAGTTGCTATCTACTCAGCCTTATGAATGCCCCTCGCTTTTCTAAGGCCATGTGAAAATCACGGCACTGCCCTTAGCCTTGTGTCATCTGCTTTTTCGTTCTGCGATATGCCCAGTTCCCAAATCAATTATAGGTACCTGTTTAGGAGAGAGGAAGATTTTACCTCTCAAAGGGTGAGATTTGAAATTTACACTAAAAAGACAACTTTACATTTAATGCTTCACTTAATGAGACATTCTTTTTTTTATAAGTCTATTTTTCTACTCAGTTTCAGAACACTAATCTGATTTTCACTCTGATTTTTAACGTTTCTTTAAATATTTATAATGTAGCTTCTTTCAAAATATTTTCATGAAAAATTACTTTTATTATACCATTATGTGCATGTTATTGGTAGCAGGCATAGTTTATTATTTAGTACTGAAACATGCTCTTTTACCTAACAGTAAACAAGTATGTTTTGATATATATCTGTTAATATGCTTATAGTGGTAAGAAATGGACTTGAGGTCCCAGGAGATTTCATTTTATTCACCCTGGTCAGATACAATAAAGGCTATGAGTATAAATACATAACTTCCTAACCAGGTGTAGGGCATGTTCATGAATATCAAATCTTTTGATGCTGGACCCAAGAGAGGAAAAGTTGTAGCTAAATGTTGATTTACTTATAACTAGACGTCTATGTGAGAAAATATATGTATACATATATATGATATGCAGAAGTCACTTTTTTTATCAGGCTTTATTCTCCTTACAAAGCCACAGTTTAACTGTCTGCAACAGTTGGTTTATGTTAATGATAGACAAATACCCAGTGTTTGTTACTTTTTCCAACTACCACTGTAATGATAATCTTTCTCACGTATATACATGCAACTTCTTGGCTTCATTTCCATGAAGCTGTTTCAATATATTCAGTATACTTTGTCCTTAATGCTGCTTCTGTTAACAGTGATCTCTTTCTTTTTTTCATTCTTATATCTTCATTAGTTCATCATAAATCTGTCCAGTTGAGGCCTCAGGACCACGGCATGATTTCATGACTCCGAAGTATTTTACAGAAACATTTTTTAAATAAGGGAAATATTTTATATACCAGATGGTTCACAAGTGATGGCTCATAGCTAGTTTTTTTTTTTCTTCTAAAAAATGTCAGGTTTTTAAAATCATTTACCTTATTAAAATGAAAAGTGCCATACTTAACTTTTAAAGGAAAGACCTGACTTGCTTTTTCTCTATTTAGACTGTTTTTGTACTTTACTAATCTTTAAACTATCAGGAAAAAAACCAAAACTTTATACCAATGATTTAGTAATTTTGAGGCATAGGGTAGCTTACGTAGTGGAGGATGTGCCAAATATTCTCTTCAAATGCCACCTTCTCAATTTATAACTAAAATAGTGTTATCTGACTAATTCCTCTGAATTTTGATGTAAGATCTATATAGGCCCCCAAAATGATCGTAGTACATGCCAGTCATTTCTCAGTGAAATAAATACAATACCAGAGTACATTATGGGTTTTATTGCTTTCTTTTATGGTAGACCTGTTAATGGGGAAAAAATACATCAAATCAAATAGAATCTTATATCTGTATGTTAAAATAGAGCACTTACCTGAAGTCAGTGGCCTGGATCATAGCCCTGGATCATTTCCCAGTCTGTCCTGTGCTGTGTGACCTTGGACAAGGCGCTTCATCTCTCTGGGCCTCTATTTCTCCATTTGTAAAACAAGTGGCTGCAGTAGATGATGGCTGAGAGCCCTTCCTGTTCCCAGATGCCTTGGTCCAAAGACCCCACCCCTCTGCTGGTCCTGCCAACGTGTTGGTGCTATAAGCTGCTTCAGATATAAAATTGGTTTATCTATAATGTTTGTTCATTTAATAGCTTCTAAAAGGCCTTTTTGTTATACAGTGCTTTTTTTCTAGTTTTATGGACTTGGTTACTGTAATAATGTCTTGTTTTTAGCCATGTAACTACAAACAGATATTCTCTTGATGTCTTAGTAAATTTGCATTTGATATATCATTGATGAGATTTTGTTGTTATGTAATATTCTTTGGCTACGCATCTGTCCAGCATCTTATTAACCATAATACTGTGATCATTATTTGGAAATATGTCCTATGGAAAGAATAAAAGCATGTACTTCACAGCTAGCATGTTCACAGATTTGAAAGAAGTTTCATTAAAAGCACCATTGCTTTCTGTACTGCGTCAGTGCCTCATTGTATCATCCTACTTGTGTTTTGCTCAATAAATGAATAAAAGACCA)$ MGFVRQIQLLLWKNWTLRKRQKIRFVVELVWPLSLFLVLIWLRNANPLYSHHE|yfr* 11BR013 ENSG00000121766.15 ENSG00000121769.8 +/+ -/- chr1:31297075 chr1:31369557 5'UTR/splice-site CDS/splice-site inversion 2 13 0 44 63 high . . |Lipocalin_/_cytosolic_fatty-acid_binding_protein_family(100%) . . ENSG00000121766.15 ENSG00000121769.8 ENST00000618216.4 ENST00000373713.7 downstream downstream duplicates(1) ^(AGGCGCGCTGGGTCTTGTGGGTGGAAACG)CGCTGGCTGACTGGGGTCGGCGTTTAGTTCAGCGCAGCGACTCGGGGACCTGGAGCTGACGCCTA|GTGTGGGTTTTGCTACCAGGCAGGTGGCCAGCATGACCAAGCCTACCACAATCATCGAAAAGAATGGGGACATTCTCACCCTAAAAACACACAGCACCTTCAAGAACACAGAGATCAGCTTTAAGTTGGGGGTGGAGTTCGATGAGACAACAGCAGATGACAGGAAGGTCAAG(___TCCATTGTGACACTGGATGGAGGGAAACTTGTTCACCTGCAGAAATGGGACGGGCAAGAGACCACACTTGTGCGGGAGCTAATTGATGGAAAACTCATCCTG___ACACTCACCCACGGCACTGCAGTTTGCACTCGCACTTATGAGAAAGAGGCATGACCTGACTGCACTGTTGCTGACTACTACTCTGCCAATCGGCTACCCCTCGACTCAGCACCACATTGCCTCATTTCTTCCTCTGCATTTTGTACAAATCCACGAATTCTTCTGGGGTCAGGTGCCACTGACCGGGATCCAGTTCCAGTTCCCATGGTGTATGTGGTTTTTTTTTTTTTTTTTTAACTGCACTCATAGGGTGCTCTGAGGTCAATAAAGCAGAGCCAAGGCCACCCAGTTGCCTTTTTGCCTTTGGTAACATAACTCTGGGAGTCTTGGTTTATCCTGTGTGTCAGAGAGTGGGCAGAAATAACGGCCTGAAGGTTACTGAGGAAGAAGCACTGGATGGGAGACTGAAATGGACAGTCTCGGAGCCTGTTAATCAGCTGATCACCTTACACATTTAATAATAAAAGAGCTGTACCTACACGTTGCCTTTACACTGCCCCCCCTCCATGGTCAAATGACCTAGTTCAGTCAGTGATGGGGCTTCCCCAGGTTTGGCTATTGAACTGTCACTTCAGGCCCATCCTACACTGAAAGCTCTTGGGTCTGGCTGTTCTCTGTGAAATGCTGTAGTCTCTCCCTTTCCAGAATTCAGGTTCAGGGCACAGAACCCAGGCTTGTACCATGGTG)$ . 11BR013 ENSG00000041988.15 ENSG00000117114.20 +/+ +/- chr1:6632495 chr1:81777183 CDS/splice-site intron inversion/3'-3' 11 2 0 74 13 high out-of-frame . . . . ENSG00000041988.15 ENSG00000117114.20 ENST00000054650.8 . downstream downstream . ^(TTCCAGTTGTCCAAGCCTGTGAGTGGCTATGCGTCCTGGTTGGGTGCTCAAAGCAAGGAGGTGAAAGGCGACCAGCATTGGCGAATGGG___GTCCCTCCCCTCTCCGCAGGCCCCGCCGCCGCCGCCATCTTTGTTGGGGGCAGCCAGGCCTGGCTCGAGATGCCGAAGTCGTGCGCGGCCCGGCAGTGCTGCAACCGCTACAGCAGCCGCAGGAAGCAGCTCACCTTCCACCG___GTTTCCGTTCAGCCGCCCGGAGCTGCTGAAGGAATGGGTGCTGAACATCGGCCGGGGCAACTTCAAGCCCAAGCAGCACACGGTCATCTGCTCCGAG)CACTTCCGGCCAGAGTGCTTCAGCGCCTTTGGAAACCGCAAGAACCTAAAGCACAATGCCGTGCCCACGGTGTTCGCCTTTCAGGACCCCACACAG___CAGGTGAGGGAGAACACAGACCCTGCCAGTGAGAGAGGAAATGCCAGCTCTTCTCAGAAAGAAAAG___GTCCTCCCTGAGGCGGGGGCCGGAGAGGACAGTCCTGGGAGAAACATGGACACTGCACTTGAAGAGCTTCAGTTGCCCCCAAATGCCGAAGGCCACGTAAAACAG|ATTACCATGCTCAGTTCTGGAAGTATTATTTTACAGAAGATATAGATGGGAAGAATATAGAACTCCTAGGAGTCAGCAGCCTGAATG MPKSCAARQCCNRYSSRRKQLTFHRFPFSRPELLKEWVLNIGRGNFKPKQHTVICSEHFRPECFSAFGNRKNLKHNAVPTVFAFQDPTQQVRENTDPASERGNASSSQKEKVLPEAGAGEDSPGRNMDTALEELQLPPNAEGHVKQ|itmlssgsiilqki* 11BR013 ENSG00000037637.11 ENSG00000142784.16 -/- +/+ chr1:16352255 chr1:27301226 5'UTR/splice-site CDS/splice-site inversion 1 11 0 9 71 high . . |WD_domain__G-beta_repeat(100%) . . ENSG00000037637.11 ENSG00000142784.16 ENST00000375592.8 ENST00000319394.8 upstream upstream . ^(CTGCGCTGTCTTCTCCCGGCCTGAGCAGCAGCAGCTGCGGCGGCGGCGGCGTTTGAGTGGAGGAAGATGGCGGCTCCGGGCGGCTCGGGGTCCCGCCAGCTGTGAGGAGCCCCG)AGCACGGCTGTCGCGGCCTGAGGCAGAGCGCCTCTGCTCTGGCCCTGTCCCTGGCTCCCTCATTACCGTCGCCAGCGGAGCGAACCCGAGAGCGTGGAGCGGGCTGGGCCAG|GGATGGTGACCACTATGATGCCCTGAGGGACTGCCTCAAGGCCATCTCCCTAAACCCATGCCACCTGAAGGCACACTTTCGCCTGGCCCGCTGCCTCTTTGAGCTCAAGTATGTGGCTGAAGCCCTGGAGTGCCTGGACGACTTCAAAGGGAAATTTCCG(GAGCAGGCCCACAGCAGCGCTTGTGATGCATTGGGCCGCGACATCACAGCTGCCCTCTTCTCTAAAAATGATGGTG___AGGAGAAGAAGGGACCTGGTGGCGGCGCCCCAGTCCGCCTCCGCAGCACGAGCCGCAAGGACTCCATCTCAGAGGATGAAATGGTGCTGCGGGAGCGAAGCTACGACTATCAGTTCCGCTACTGCGGCCACTGCAACACCACCACGGATATCAAAGAGGCCAATTTCTTTGGCAG___CAACGCTCAGTATATCGTCAGTGGCTCTGACGATGGCTCCTTCTTCATCTGGGAAAAGGAGACCACCAACCTGGTCCGTGTGCTCCAAGGGGATGAGTCCATTGTCAACTGCCTGCAGCCACACCCCAGCTACTGCTTCCTGGCCACCAGTGGCATCGATCCTGTTGTGCGGCTCTGGAACCCCCGACCAGAG___AGTGAAGACCTCACAGGCCGAGTCGTGGAAGATATGGAGGGTGCTTCACAGGCCAACCAGCGGCGCATGAATGCAGACCCGTTGGAGGTGATGCTGCTCAACATGGGCTACCGGATCACGGGCCTGAGCAGTGGGGGTGCCGGGGCCTCTGATGATGAGGACAGCTCTGAGGGCCAGGTGCAGTGCCGGCCCAGCTAGACCCTCCAGCCCTGGTCCCCAGCCCCTGCTACTGGCTGGACCCTCTGCCCTGGGCAGGAGGTCAGGGGATTCTGTTTTGGTTTGTCTTCCCCACCACCCTTTTTTTTCATTTCCCCTGTTTTGTTTGTTAGTTTGGCGTTAGGGGTGGAGGTTGCTACAACTTGCTGGCTTTCGGACTCTGGGCTGATTGTCCCCTGACTATCCCCAGCCCTGAAAAAAAGAGCAGGAGGGGACACCCCTCCATATGCCCCCCCCCATCTCCTGCTTTCATGTCCCTGGAGGGCTCTGGCCTGCCTCAAAACCCCTTCTGCCTCAGGTGGGGAGGAACAAGCTGAACTGTCTTCAGGGACTGTCCTGCCCTTTAGCTGGCAGCAGCAGGAGGAGTGGGATTCCCAATTGGTAAGGGCTCGCCTTGGCCTGTTGCCACTCTTGCTCCCTAGCCTGCAAGGCTAGCTCCCCTGTGGTCTTCAGGAAAGGTTTTGAAAAAGGATGGGTCCCACCCTCCCTCCAGAGCCACCAGTGTTAGAGCGGAGCCCAAAGGAAGGATGGGAGCCCTGGAGTGGGCAAGACCAGGCCACCTGCTGAGGTCGCTGTGGAGCACCCTCGCTCCTCTCCTGGCTACTAGCTCTGGCCCTGCACCTACTCTCACTGGCCACCTCTGGAGGCTCTGCCTTTCCCAAGGGCCCTGGCAGAGGGTGGGGCACTGCACCTTACCCCACCCATCCATGCCAGCACTTCTGCACTACGGCCATTCTCCTCTTGGGCGCTCCTCAGCCTCACTGTGACCTTTCTGCCAGAGCTCCCAGCCAGGCCTACTCTGCTGAGGTGGCGCTTCCTGCTAAGGGCCCTTCTCTGCCCTTTCTGCCCTCCTTCCCATCCCACATGCTGAGCCGCCACAAAGACCAAAGAAGTGATGGCTTTTCTCTGTCCCCTGCTGCTCTGAGGGGAGAGGGGTGGGTCTCCTGAGCCACTCAGATGGGAAAGTCCCTTACTCGGCCCCTCCCTCCCCAGCAGCCCCAAGCTTTACACTGGATGCAGCGATCAACCCACCACTCACCAGGCCTCTCCTCCCCTCTGCCCCCGGCTCTTAGCTCCAGCTGCTCCAGGTAGTTGGTTCATCCTTCCCCCTCTCTCCCTCCCTGCTTCCCCTTCAGTGCTTACTTGGCTCCAGCCCTCCAGCTGCAGCCCCTGGGGAAAAGCAGCCTCCCTTCTCCTCTCCCTCCACTCCCTCGCTCCCTCCCTCAGCCCCTGTCTCTGCCAGGTGCCTCCTCTCAGTCAGGCTTCAGAGCAGCCCTGGAGACAGGAGGGCCATGTTAAAAGCTTTTTCACAGTTTTAAGAAGACAAGTGGAGGGTGAGGATAGTGGTGGGGGGTCTGGCACCATCTCATTGCTTTAATCCCAGCAACACAGGTGGCAGCTTCTCCCCCTTCCTTCCCACCCCAGTCCCTCTTCCCACCCCTCTCTTCTAGCTTGGTAATGAAGTATATTTATTGGTGAAGGAAACAGCTGCTGCTGCTTCTCCTGCTGCTGGGACCTGCTCCCCTGTCTCTTCTCCGTGACCTTTCTCTAGCCAGGGAGAAGGGAGAGCAGGAGTATTGGGGCTGGGCCCTGGGGCCCAAGGACCAGCTGGGTCCCCTTTGCTTTCTTGTGTTCCAGCCACCTGCCATTTCCTCCCTGCCTCCCACCCTCCCTCCCTGCCCCCTGTCCTGCTTCCCACCCCCTGCCTGCCCAGCCTGGGCCCTGCAGTGTGGAGAGACACATAAGCCTTACTGTCCTCTGGGGGCAGGAGCCGAGCCTTTTTGTTGCTCCGCTCCCAGGAGAGTGAGGGTGACGCAATTGATTAAAACCATTTTGTTCTAGGTGTGGCTGGTGGCATTTGTGGGGTGCAGATGGGTCTTGGAACCAAAGTGAGGGCACCTGGTCCCTCACCTCTGTAGCTCTATGACTTAGTAACCACACCTCTACTGGACAGAATGAGGCCTGCCTTGAAGGGTCACCGTGAGCAGCGGCCACCCAGCCCAGCAGGGCTGAGTGCAGAGCCCAGCTCTCATGGCTGTGATTTGTAATCATCAGCTTTCACTCTCTGGCTGTTTTCTCATCAGTAAAATAAGGGACTTGGAATCTTAGTGGTTTTTCAAACCATTTTACATTGTGACCCAATATACACATGATTACTTGTAGATATGTGTGTGTGTATATATATATAAAAAAAATGAACAAAAGTTTTACACAATAATATTTACCCTTGCTACA)$ . 11BR013 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 2 6 1 303 37 high . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000560197.5 upstream downstream mismappers(1) GGTCAGTTCTCCACGTCCCTGAGAGGCTAAGATGCTTACATCTCTTGTCACACTCCTGAATGTGGCAGGTCCGTGTCTGGACCGAGGAGCCCTCACATCGGTTGTTGAGGCTATCGCAGGAGCGGCCGCGCTGCTGAATTCCATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAG(GTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 11BR013 ENSG00000238139.2(81324),ENSG00000242482.3(14061) ENSG00000203963.11 ./+ -/- chr1:67642770 chr1:67115464 intergenic CDS/splice-site inversion 5 3 0 23 14 high . . |Domain_of_unknown_function_(DUF4545)(100%) . . . ENSG00000203963.11 . ENST00000371007.6 downstream downstream duplicates(2) AATGAAATCCTGCAAAAATAATGGCACTTTCAGCTTGAACATGAGGACCAAAAATTGGAAATGTGAAATTACAGCGCTTTCACTTCAGTGGATGATTCACAGGCCCAGCTGGTTTCGTGCGTGTTTTATGAAGAGCAGTGTGCAGCGCTGTTCT|GCATGTCTCTTTCAAATGTGAGCCTGAACCTAGAAAGAGTAATTTTGAAAAGTCAAATTTAAGACCATTCTTTATTCAAACAAATGTAAAAAATAAAGAAAGTGAGTCAACAG___CTCAAATTGAAAAAAAACCTAGGAAACCATTGGATTCTGTTGGTCTCTTAGAAGGTGATAGAAATAAAAG(___AAAAAAATCTCCACAGATGAACGATTTTAATATAAAAGAAAACAAATCGGTCAGAAATTATCAATTAAGTAAGTATAGGTCAGTAAGAAAGAAAAGCTTGCTCCCGTTGTGCTTTGAGGATGAATTGAAAAATCCACATGCCAAGATAGTCAACGTTAGTCCAACAAAGACAGTAACTTCTCACATG___GAACAAAAGGACACAAATCCCATAATTTTCCATGACACAGAATATGTACGAATGTTACTTTTGACAAAAAATAGATTTTCTTCTCATCCTTTGGAAAATGAAAACATTTACCCACATAAAAGAACAAATTTCATTTTAGAAAGAAATTGTGAAATCCTCAAATCTATAATTGGCAATCAATCTATTTCTCTTTTCAAACCCCAAAAAACTATGCCTACAGTACAGAGAAAAGATATACAGATCCCTATGTCTTTTAAAGCGGGCCACACAACTGTAGATGATAAACTAAAGAAGAAAACTAATAAGCAGACACTAGAAAACAGATCTTGGAATACACTCTATAATTTCTCACAGAATTTTTCTAGCCTAACAAAACAATTTGTGGGTTACCTTGATAAAGCTGTTATTCATGAAATGAGTGCCCAAACTGGAAAATTTGAAAGAATGTTTTCTGCAGGAAAACCAACGAGCATACCCACATCCAGTGCCTTACCTGTCAAATGTTACTCAAAGCCTTTTAAATATATATATGAACTAAATAATGTAACGCCACTGGATAATTTGTTAAACTTATCAAATGAAATTTTAAATGCCTCATAAAATATTATGTATGCAGCAATATTTGAGTAACAAGAAGCAAATATCCAAGTTCCAAAATTATAAAAGAAATTCTTATCCAAATAGTAATGTTCTAATTGATCATATAAGAAAGCAAAGCATAGACATTAGAATTATAAGTCAGCAGTGGTCTGTTCAAGAACAATCAACATTTTTAGAAAATAGTAGGACAAAATTAGGAAATAATTATCACCAAGAGGATCTAGTTCATGACTTTCTATTATCTCAATTAGATTGCTCAATCATCAGCCTTCCTATACTAAACTCTGATTCAGGACCAAGAAAGGCATAGTCTGACTCTGGAAATGCGCTGTTGGAAGCCAAATAACATCAATACTCTTGTTCTATAATTGAATATCAAATAAGACAAATTACCATTAATTTAATGACTGTGGAGTTAATTGTATACCAGCATTTCAGCAAATCATCATCAATAGTATTACATTAGCAATTTATGCAATTAAAAGGGCTTTGTAAAACTTTGAATAGATTTTATTGTCATTAGTAGCTGTTGGAACTTCATTATTATATAATGTTTTTGCAAACTTTAACTTTTTTCTAAATTGTTAAATAAAAGAATAACTATCCTTAATCTAAATAATTTTGGTAGCAAATCCTATAAGGTATTAAACATTTTAAGGTATATTATTACATTGCTATTTTACTGTTTCTCATTAACCCAAACAGTTTAAAGGCAGAATTCCACTTAGAAACAAGTTGCATTTTGAAAGTTTATTTGTAATCCATTTGTTTGGAATTCAGAAATGTATTTCACATAAAAATAATCTTGGAAGTAATAAATTCCAAAATTAACTAACAAAA)$ . 11BR013 ENSG00000137996.12 ENSG00000055732.13 +/+ -/- chr1:100266624 chr1:85045362 CDS/splice-site 5'UTR/splice-site inversion 5 1 1 42 12 high out-of-frame . RNA_3'-terminal_phosphate_cyclase(100%)| . . ENSG00000137996.12 ENSG00000055732.13 ENST00000370128.8 ENST00000370589.7 downstream downstream . ^(GCTGACTCCAGTGTCCCGAGAGGCGCCGCTTCTTCCGCTTTCTCGTCAGGCTCCTGCGCCCCAGGCATGAACCAAGGTTTCTGAACTACTGGGCGGGAGC)CAACGTCTCTTCTTTCTCCCGCTCTGGCGGAGGCTTTGTCGCTGCGGGCTGGGCCCCAGGGTGTCCCCCATGGCGGGGCCGCGGGTGGAGGTCGATGGCAGCATCATGGAAGGG___GGCGGCCAGATCCTGAGAGTCTCTACGGCCTTGAGCTGTCTCCTAGGCCTCCCCTTGCGGGTGCAGAAGATCCGAGCCGGCCGGAGCACGCCAGGCCTGAG|AGATGGCAGATCCTGAGGTAGTTGTGAGTAGCTGCAGCTCTCATGAAGAGGAAAATCGCTGCAATTTTAACCAGCAAACATCTCCATCTGAGGAGCTTCTATTAGAAGACCAGATGAGGCGAAAACTCAAATTTTTTTTCATGAATCCCTGTGAGAAGTTCTGGGCTCGAGGTAGAAAACCATGGAAACTTGCC(ATACAAATTCTAAAAATTGCAATGGTGACTATCCAG___CTGGTCTTATTTGGGCTAAGTAACCAGATGGTGGTAGCTTTCAAGGAAGAGAATACTATAGCATTCAAACACCTTTTCCTAAAAGGATATATGGACCGAATGGATGACACATATGCAGTGTACACACAAAGTGACGTGTATGATCAGTTAATCTTCGCAGTAAACCAG___TACTTGCAGCTATACAATGTCTCCGTTGGGAATCATGCTTATGAGAACAAAGGTACCAAGCAATCTGCTATGGCAATCTGTCAGCACTTCTACAAGCGAGGAAACATCTACCCTGGAAATGATACCTTTGACATCGATCCAGAAATTGAAACTG___AGTGTTTCTTTGTGGAGCCAGATGAACCTTTTCACATTGGGACACCAGCAGAAAATAAACTGAACTTAACACTGGACTTCCACAG___ACTCCTAACAGTGGAGCTTCAGTTTAAACTGAAAGCCATTAATCTGCAGACAGTTCGTCATCAAGAACTCCCTGACTGTTATGACTTTACTCTGACT___ATAACATTTGACAACAAGGCCCATAGTGGAAGAATTAAAATAAGTTTAGATAATGACATTTCCATCAGAGAATGTAAAGACTGGCATGTATCTGGATCAA___TTCAGAAGAACACTCATTACATGATGATCTTTGATGCCTTTGTCATTCTGACTTGCTTGGTTTCATTAATCCTCTGCATTAGATCTGTGATTAGAGGACTTCAGCTTCAGCAG___GAGTTTGTCAATTTTTTCCTCCTCCATTATAAGAAGGAAGTTTCTGTTTCTGATCAAATGGAATTTGTCAATGGATGGTACATTATGATTATTATTAGTGACATATTGACAATCATTGGATCAATTCTAAAAATGGAAATCCAAGCTAAG___AGTCTAACTAGTTATGATGTCTGTAGCATACTTCTTGGGACTTCTACCATGCTCGTGTGGCTTGGAGTCATCCGATACCTCGGTTTCTTTGCAAAGTACAAC___CTCCTCATTTTGACCCTTCAGGCAGCGCTGCCCAATGTCATCAGGTTCTGCTGCTGTGCAGCTATGATTTACTTAGGTTACTGCTTCTGTGGATGGATCGTGCTGGGGCCTTACCATGACAAG___TTTCGTTCTCTGAACATGGTCTCTGAGTGCCTTTTCTCTCTGATAAATGGAGATGATATGTTTGCCACGTTTGCAAAAATGCAGCAAAAAAGTTACTTAGTCTGGCTGTTTAGTAGAATTTACCTCTACTCATTCATCAGCCTCTTTATATATATGATTTTAAGTCTTTTCATTGCACTGATCACTGATACATACGAAACAATTAAG___CAATACCAACAAGATGGCTTCCCAGAGACTGAACTTCGTACATTTATATCAGAATGCAAAGATCTACCCAACTCTGGAAAATACAGATTAGAAGATGACCCTCCAGTATCTTTATTCTGCTGTTGTAAAAAGTAGCTATCAGGTTTATCTGTACTTTAGAGGAAAATATAATGTGTAGCTGAGTTGGAACACTGTGGATATTCTGAGATCAGATGTAGTATGTTTGAAGACTGTTATTTTGAGCTAATTGAGACCTATAATTCACCAATAACTGTTTATATTTTTAAAAGCAATATTTAATGTCTTTGCAACTTTATGCTGGGATTGTTTTTAAAAAAACTTTAATGAGGAAAGCTATTGGATTATTATTATTTCTTGTTTATTTTGCCATGGCTTTAGAATGTATTCTGTATGCCTCTCTTTTGCTCTGATACTGTTGCTCCTGCTATTCTGATTGTGCAGACTGTGTAATTAGTGGAAAACAATCCTTGGTCTGACTGTGACTTTGGACAACTCAGTAACCCTGGCTTGGACCACTCTCAGGAGTCCATCCTTGAGAGAGTGGGTGTAGTTATCATTTATACAGTAATCATTGCATTTTAAAATCTTCTCTTGAAAGGAAGAATAAGAGTGCACCAGAATAAGAGCGCACCAGAATAAGAGCGCACCAGCTAACAATGTGATACGGCCATATGTCACTTAAGGATGGAGATATGTTCTGAGAAATGTGTCATTAGGCGATTTTGTCATTAAACATCATAGCATGTACTTCCACAAACCTAGATGGTATAGCCTACTACACACCTAGGCTATTTGGTATAGCCTGTTGGTCCTGGGGTACAAATCTGTACAACATGTTACTGTATTGAATACAGTAGGCAATTGTAACACAATGGTAAGTATCTAAACATAGAAAAGGGACAGTAAAAATATGGTTTTATAATCTTCTGGGACCACCATTGTATATGCGGTACATCATTGACCAAAACATCGTTATCCAGCATATGACTGTATTTGGTTATGAAAGCCAACTGTTACTTGATTCTGCTTTTAGTTCTTAAGAGGATCAGGCTTTTAAATACTCATTTACAAGTTTTCTATCCTCCTTCAGTGTTAAAGTAGAAAGTAAAAAGAGTATCTTATACATGCATGAAATTAAAGCATATACCAAATGCA)$ MAGPRVEVDGSIMEGGGQILRVSTALSCLLGLPLRVQKIRAGRSTPGLr|dgrs* 11BR013 ENSG00000070785.17 ENSG00000230768.9(72555),ENSG00000227850.1(6527) -/- ./+ chr1:44879818 chr1:105691512 CDS/splice-site intergenic inversion 2 4 0 50 7 high out-of-frame . Nucleotidyl_transferase(100%)| . . ENSG00000070785.17 . ENST00000620860.4 . upstream upstream . ^(CTCTCCGCTGAGTGTGCTTCCCCTCCGTCATCCATCGCTCGGCGGTCTTCTCTTCTCCATGGGTCTGCTCTGCGCGTTCCATCGAGTTTCTCGGCCATCGCGCGCCTGCGCCATTGGGCTGTCAGTCAGAGGCGGCGTGGAGATCGCTGGGAGCGGTTGCGGCGTGCCGGGAGCTGAGTTATAGCTGTGACTTCTGCCCTGCCAGGCCGCACACAAGCTGGCTGACCCGG___TTTGTAAAAATGGAATTTCAAGCAGTAGTGATGGCAGTAGGTGGAGGATCTCGGATGACAGACCTAACTTCCAGCATTCCCAAACCTCTGCTTCCAGTTGGGAACAAACCTTTAATTTGGTACCCATTGAACCTGCTTGAGCGTGTTGGATTTGAAG___AAGTCATTGTGGTTACAACCAGGGATGTTCAAAAGGCTCTATGTGCAGAATTCAAGATGAAAATGAAGCCAGATATTGTGTGTATTCCTGATGACGCTGACATGGGAACTGCAGATTCTTTGCGCTACATATATCCAAAACTTAAG___ACAGATGTGCTGGTGCTGAGCTGTGATCTGATAACAGACGTTGCCTTACATGAGGTTGTGGACCTGTTTAGAGCTTATGATGCATCACTTGCTATGTTGATGAGAAAAGGCCAAGATAGCATAGAACCTGTTCCCGGTCAAAAGGGGAAAAAAAAAGCAG___TGGAGCAGCGTGACTTCATTGGAGTGGACAGCACAGGAAAGAGGCTGCTCTTCATGGCTAATGAAGCAGACTTGGATGAAGAGCTGGTCATTAAGGGATCCATCCTACAGAA___GCATCCTAGAATACGTTTCCACACGGGTCTTGTGGATGCCCACCTCTACTGTTTGAAAAAATACATCGTGGATTTCCTAATGGAAAATGG___GTCAATAACTTCTATCCGGAGTGAACTGATTCCATATTTAGTGAGAAAACAGTTTTCCTCAGCTTCCTCACAACAGGGACAA)GAAGAAAAAGAGGAGGATCTAAAGAAAAAGGAGCTGAAGTCCTTAG___ATATCTACAGTTTTATAAAAGAAGCCAATACACTGAACCTGGCTCCCTATGATGCCTGCTGGAATGCCTGTCGAGGAGACAGGTGGGAAGACTTGTCCAGATCACAGGTGCGCTGCTATGTCCACATCATGAAAGAGGGGCTCTGCTCTCGAGTGAGCACACTGGGACTCTACATGGAAGCAAACAGACAG|GTTGCTTTTTGGAACCCAGCCCTTATGCTATCAGGACTCTGCAGCAACGAGAAGAAGAGGCCACTGAAAGAGAATCCAGCCTCTCTGGTCAACAGCAGTAGCTTAACCCTCCGTCAAGCCTACGGTTGGATACGATTGCCCTGAAGTCCCATCTAAGTCCACATGGAACAGAACAGTCCAGTAAGCCCACATGAGGCTGACAAACA___CTTCCCTTTTTACTTTCAT MEFQAVVMAVGGGSRMTDLTSSIPKPLLPVGNKPLIWYPLNLLERVGFEEVIVVTTRDVQKALCAEFKMKMKPDIVCIPDDADMGTADSLRYIYPKLKTDVLVLSCDLITDVALHEVVDLFRAYDASLAMLMRKGQDSIEPVPGQKGKKKAVEQRDFIGVDSTGKRLLFMANEADLDEELVIKGSILQKHPRIRFHTGLVDAHLYCLKKYIVDFLMENGSITSIRSELIPYLVRKQFSSASSQQGQEEKEEDLKKKELKSLDIYSFIKEANTLNLAPYDACWNACRGDRWEDLSRSQVRCYVHIMKEGLCSRVSTLGLYMEANRQ|vafwnpalmlsglcsnekkrplkenpaslvnsssltlrqaygwirlp* 11BR013 ENSG00000065243.20 ENSG00000232284.7 +/+ +/+ chr1:88684628 chr1:68099729 CDS/splice-site exon/splice-site duplication 5 1 0 30 16 high out-of-frame . . . . ENSG00000065243.20 ENSG00000232284.7 ENST00000370521.8 ENST00000420587.5 downstream upstream . ^(GCGGCCGCAGCGCCCGCACGGAGAGGCTTGAGGCGGCTCCTGGCGTCGCCCAGAGGGAGCGACTAGACGAACAGTCCGGTGAG)GGCGGCGAGAGGAAGCCCGCTACGAGTGCCCTAGCTCCCCGCCGCTCTCGATGAACCGGACGGAATAAGCCGCGCCTCCAGCAGGGGCTGCGCCTCCATGAATCCCTAGTTGTTTTTTTTTTTTTgTTTaTCTCCCCTCgCCTCACCCCCACCCCGAGCCCCGTCCCGCCTTCTCCCTTCGCCAGAGGCGGCCGCGTCCAGGTGCGGAGTCCATACCGGAGCGCAATGGCGTCCAACCCCGAACGGGGGGAGATTCTGCTCACGGAACTGCAG|AATATTTCCAATCCATGGTTGGGTGCGGAACCTGCGGATACAGAGGACTGACTAaAATATCAAG___AGATCATAAGGCTGTCGGAATGGACTCTTTGTGGCAATAAGATACCATATTATAAACAGGACCCAAGGTCATGCCAG___GAGGCTCGTGTGGTCCCTGTTTGTCATCCAGTCAATACGGCCATCAGCTTCTGGCCCCAGACACCTTTCCTCTGCAC(TGTGGCACAGAGGAGCAGACTGCTTTGGAGGGCAGCTTCCTGGGAGCTCCAGGGACCCTGGCCAGGCGGCCACTGCCACTGACTTCCTCGGCTCACTGAGCCCGTGCCTGCAGCTCTCGTGTTTCCTCTGTGCTGCAGTGGACGCTTATCTTCCCCCGATGGCACATTTCTTTGTCACAGACAGGACCCTCACTGGCAGTCGGAG___GACATCAAGCCCTAGTACAGGAAGGGACATTTTCACACTAATCTGTGCCAGCTGGAGCAGTCCTGCCATCTGAACATCATATTTTGGAACCCTGAGAAGCTAGGATGCAGTTAACAG___CTAGATGTCAATTCCCTGCAGGCAGAGACCAGTTCTCTGCTGCCATGTCTTTAAGGCCTGATGCACCATAGATTAATTCAAATCCAGTGTCTACCACTCACTCGGCTTAATGTAAGACAAGATGAAGACTCCAGACTTCAGAACTTCAGTGTCC___GCAGATGAGGATTTTAAATGCTTCGCCTACAACCTCAATTGTTGTGGAGCCAAAGATGCAACAGCTTTGAAGAATAGAAGAATTACTCTATATTTGTCAGGATCTACGTGGCAAACAAGCGCCACTTGGCTTACATTACTTGCCTGGCTTGGATCCCATGGAATGGAGGAGCATTGGAACCAAGAGGAAAAAAATTAAAGTGCTTTGGGACAGCGAGCCAAACTCTTACATAGTATTTGAAATGGTGTGGCAAACATGAAATTATTTTAGGCTCAAGATTGGTGCTAGTTTTTTACCCTCTTTTTGAAAAAATAGTAAAATGCACATAAAGGGCCCTGCCAGAGGTTTAGCTCATAAAATCTGCCAATCATTGGATGTGCTAATTGGTGTAGCAATCCAGTGGTGGCCTGGATTAGGACTCAAAAACTGACCCTTACCACCCTTGGTGTCCTGCAGCAAAGACAGCCTAAATCGAAAAGACTGATGGAAGTATATCAAATTACGAATTTCTCTATCCCTGAAAAATGCCTGCAATTTCTGTTTCTCCATCACTCCAGAAATACTCAAAACAGCAAAAATTAAATACATATGAAGTGAACACAAAAGACCTCCACAGAAAAATCAGTGGCTCATCTGTTGACGCTATTGCTCATTGCTCGGCTGGCCAGTCATCTGGGCTAAGTTTTGACTTTGGGCCAGTGCTTCAAAATCAGCAACCTTTCAGCCAAAAGACTGTGGAATGCAGCCAAGACCACCTGTGGAAAGTGAATTATAGCATCTTTAATTTACTACCTTGGGCTATGATGTCAGAAACCCAGCATGGAGGGCGCACCAGTTCTTGTGTGGGAAATCTCTCAGAGCCCCCATGGAGGCCCCCAAAGTGGCTCTGGCAAAGCTGTAGGGGTGGAGGTAACAAAAAAGGGGACACCTGGCTCTCCTTCTTAAATCAGCTCACCATGGGCACACATTTATATTGGAATTTTAGGGTCAGAAAATACCAAAATTAAATCTTCTAGAAG)$ MASNPERGEILLTELQ|nisnpwlgaepadted* 11BR013 ENSG00000127603.29 ENSG00000126705.15 +/+ -/- chr1:39409908 chr1:27558883 intron 5'UTR/splice-site inversion 4 2 0 5 7 high . . Calponin_homology_(CH)_domain(100%),Plectin_repeat(100%),Spectrin_repeat(100%)|Domain_of_unknown_function_(DUF4683)(100%) . . ENSG00000127603.29 ENSG00000126705.15 . ENST00000673934.1 downstream downstream . GAGGACGAATGGCTAATTCAGACCAGCTGGACTCTCCAGGGCTGGAACTGAGGATAAAATGAAAGGAATTCTTAGGAGCTTGGGCCATACTTGAAGACTAGAGAGGCTGTGCCATTGTTATTAAAGGATACAATCGGCATAAATTTGCTGCTCCCAACTCTGCTTCGGTGAGAA|ATGGGAGCTTGCCTGATTGTCAACCCATCGGCCTGGACCCCAGAGCCCACCCAGTTGAGCGTGTGCAGAGGGCCCCGAGTGCGGGGCGACGCTCAGGCCGTTGCAGAGACCACCCTGGAGATGCTGATGAAGACAG(GCCTTTCCTGCTGAGCCCAGCCTATCTTCGCAGCCTGCTCAG___AAAGGGGAACTGAGGCTCATGGATATACAGTGAGTCCTACCTCCTAGCCTGAGGACTCTTCCCTGCGCCTTGATGACCTGAGAGAACTGGGAGGAGAAAGGGGTTGTGACAATGACCAGGACTCAGGGCAGAGGTGGAAACCAGAGTGCCTGATGTGTGCAGCTGCTGACCCCCCCAGGACACCTCTCTACCGGAGTCTGTGGAAGCAGAGAACTGGGAGGCCAAG___GCGCTGTCCACGCCCCGAGGCCTGGGCTCAGGCCGAAGTTGCTCCACAGCACCCCCAGCTGACAGCCAGCGACTGGCAGAGCCCCCAGGCACGGGGGCCCTCTCTCTTCCAG___AGATCTCCAGTGTGACAGCCCAGGCGGCAGAGCCGAGG___GTCCTGGTCCCGGCTTCTCGCACCCTCATGTCAGCCCCGGCCCCGCCCGGCGGCCTGCGGAGGACAAGGTCAGGATGCGTGTGAAGCCCCAGGGCCTGGTGGTGACTTCCAGTGCCGTGTGCAGCTCTCCTGACTACCTCCGGGAACCCAAGTACTACCCCGGCGGCCCCCCCACCCCCCGGCCCCTGCTTCCCACCCGGCCCCCTGCCAGCCCACCTGACAAGGCCTTCTCCACCCACGCCTTCTCCGAGAACCCACGCCCACCCCCACGCCGGGACCCCAGCACCCGGCGCCCACCAGTCCTTGCCAAGGGGGACGACCCGCTGCCCCCACGGGCAGCCCGTCCTGTCTCACAGGCCCGCTGCCCCACACCGGTCGGAGACGGCAGCAGCTCCCGACGCTGCTGGGACAACGGGCGGGTGAACCTGCGACCAGTGGTGCAGCTGATTGACATCATGAAGGACCTGACACGCCTCTCCCAGGACCTGCAGCACAGTGGTGTACACCTGGACTGTGGTGGGCTCCGACTGAGCCGCCCGCCTGCACCGCCACCCGGCGACCTACAGTACAGCTTCTTCTCCTCACCCAGTTTGGCCAACAGCATCCGTAGCCCTGAGGAGCGGGCCACCCCACACGCCAAGTCGGAGCGGCCCAGCCATCCCCTCTACGAGCCTGAGCCTGAGCCTAGGGACAGTCCCCAGCCTGGCCAAGGCCATAGTCCCGGAGCCACGGCTGCGGCCACGGGTCTGCCCCCAGAGCCTGAGCCAGACAGCACTGATTACTCAGAACTTGCTGACGCCGACATCCTTAGTGAGCTGGCCTCCCTCACTTGCCCAGAGGCCCAGCTGCTAGAGGCCCAGGCCCTCGAGCCACCATCGCCCGAGCCGGAGCCTCAGCTCCTGGACCCCCAGCCCCGCTTCCTGGACCCGCAGGCACTAGAGCCGCTCGGGGAAGCTCTGGAGCTGCCACCCCTGCAACCTCTTGCTGATCCTCTGGGGCTGCCGGGCCTGGCTCTCCAGGCCCTGGACACCCTGCCTGACTCCTTGGAGTCGCAGCTGCTTGACCCCCAGGCACTCGACCCCCTGCCCAAGCTGCTTGACGTCCCAGGTCGCCGTCTGGAGCCCCAGCAGCCCCTGGGGCACTGCCCACTGGCCGAGCCCTTGCGCCTGGACTTGTGCTCACCGCACGGCCCCCCCGGGCCTGAGGGTCACCCCAAGTACGCCTTGCGGCGCACTGATAGGCCAAAGATCCTGTGTCGCCGGCGGAAAGCCGGACGGGGACGCAAGGCAGACGCCGGACCCGAGGGCCGCCTACTGCCCCTGCCTATGCCCACGGGGCTGGTGGCTGCCCTGGCCGAACCCCCACCACCACCGCCTCCTCCACCCCCTGCCCTGCCAGGCCCAGGCCCGGTCTCAGTCCCAGAGTTGAAGCCGGAATCTTCCCAGACCCCAGTGGTCTCTACCCGCAAAGGCAAGTGCCGGGGCGTGCGGCGCATGGTGGTGAAGATGGCCAAGATCCCCGTATCGCTGGGGCGGCGGAACAAGACCACATACAAAGTGTCTTCCTTGAGCAGCAGCCTGAGCGTGGAGGGCAAGGAGCTGGGCCTGCGCGTGTCGGCTGAGCCCACCCCGCTGCTGAAGATGAAGAACAATGGGCGGAACGTGGTAGTGGTCTTCCCACCCGGTGAGATGCCCATTATTCTCAAACGTAAGCGCGGCCGCCCTCCTAAGAACCTGCTGCTGGGTCCCGGCAAGCCCAAGGAGCCAGCTGTGGTGGCGGCCGAGGCAGCCACTGTGGCAGCGGCCACCATGGCCATGCCAGAGGTAAAAAAACGACGGCGGCGGAAGCAGAAGCTGGCATCTCCCCAGCCATCCTATGCAGCAGACGCCAACGACAGCAAGGCCGAGTACTCAGACGTCCTGGCCAAGCTGGCCTTCCTGAACCGCCAGAGCCAGTGCGCTGGACGGTGCTCACCGCCCCGCTGCTGGACACCCAGTGAGCCGGAGTCGGTGCACCAGGCCCCCGACACCCAGAGCATCTCCCACTTCCTGCATCGTGTGCAGGGCTTCCGGCGGCGTGGGGGCAAAGCAGGCGGTTTTGGTGGCCGGGGTGGGGGCCATGCGGCCAAGTCAGCCCGATGCTCCTTCAGTGACTTCTTTGAGGGCATCGGCAAGAAAAAGAAGGTGGTGGCCGTGGCAGCCGCTGGGGTCGGGGGCCCGGGCCTTACTGAGTTGGGGCACCCACGCAAACGGGGCCGGGGGGAGGTAGACGCTGTGACTGGGAAGCCAAAGCGCAAGAGACGGTCCCGGAAGAATGGGACTCTGTTCCCAGAGCAGGTGCCCAGTGGCCCAGGCTTTGGGGAGGCAGGTGCTGAGTGGGCCGGGGATAAGGGTGGTGGCTGGGCCCCTCACCATGGGCACCCAGGCGGACAAGCTGGCCGAAACTGTGGGTTTCAGGGGACCGAGGCCCGGGCCTTTGCCTCCACTGGGCTGGAGAGTGGAGCCTCAGGCCGTGGCAGCTACTACAGCACGGGTGCACCCTCAGGCCAGACCGAGCTCAGCCAGGAGCGCCAAAACCTCTTCACCGGCTACTTTCGCTCGCTGCTCGATTCGGATGACTCCTCCGATCTCTTGGACTTTGCCCTCTCAGCCTCTCGCCCAGAGTCCCGGAAGGCATCGGGCACCTATGCAGGGCCACCCACCAGTGCCCTGCCTGCCCAGCGGGGCCTGGCCACCTTCCCTAGCCGGGGAGCCAAGGCCAGCCCAGTGGCAGTGGGTAGCAGCGGGGCTGGGGCGGACCCCTCCTTTCAGCCTGTCCTGTCCGCGCGCCAGACCTTCCCACCAGGACGAGCAGCAAGCTATGGGCTAACTCCAGCCGCTTCAGACTGCCGGGCAGCCGAGACCTTCCCCAAGCTGGTGCCCCCGCCCTCAGCCATGGCCCGCTCACCTACCACCCACCCGCCTGCCAACACCTACCTGCCCCAGTACGGCGGCTATGGGGCCGGACAAAGCGTATTCGCCCCAACTAAGCCCTTTACAGGCCAGGACTGCGCTAACAGCAAGGACTGCAGCTTCGCCTATGGCAGTGGCAACAGCCTCCCTGCCTCACCCAGCAGCGCCCACAGCGCCGGCTATGCCCCACCGCCTACCGGGGGCCCCTGCCTGCCACCAAGCAAGGCCTCCTTCTTCAGCAGCTCTGAGGGGGCCCCCTTCTCTGGTTCAGCCCCCACGCCCCTGCGCTGTGACAGCCGGGCCAGCACAGTCTCGCCCGGTGGCTACATGGTACCCAAGGGCACCACAGCCTCTGCCACCTCTGCAGCCTCTGCCGCCTCCTCCTCCTCCTCCTCCTTCCAGCCCTCGCCCGAGAACTGTCGGCAGTTTGCGGGGGCTTCTCAGTGGCCTTTCCGGCAGGGCTATGGAGGCCTGGACTGGGCCTCAGAGGCCTTTAGTCAGCTCTACAATCCCAGTTTTGACTGCCACGTCAGCGAGCCCAACGTGATCCTGGACATCTCCAACTACACACCGCAGAAGGTGAAGCAGCAGACGGCTGTGTCGGAGACCTTCTCTGAGTCATCCTCCGACAGCACCCAGTTCAATCAGCCGGTTGGTGGCGGGGGGTTTCGGCGTGCCAACAGCGAGGCCTCAAGTAGTGAGGGCCAGTCGAGCCTGTCCAGCCTGGAGAAACTGATGATGGACTGGAACGAGGCATCATCTGCCCCCGGCTACAACTGGAACCAGAGTGTCCTCTTTCAGAGTAGCTCCAAGCCGGGCCGTGGACGGCGGAAGAAGGTGGACCTGTTCGAGGCCTCACATCTGGGCTTCCCGACATCCGCCTCTGCCGCTGCCTCAGGCTACCCATCCAAACGGAGCACTGGGCCCCGGCAGCCGCGAGGTGGACGGGGCGGTGGGGCCTGCTCAGCCAAGAAGGAGCGGGGTGGCGCAGCGGCCAAAGCCAAGTTCATCCCCAAGCCACAGCCAGTCAACCCACTGTTCCAGGACAGTCCTGACCTCGGCCTGGACTACTATAGCGGGGACAGCAGCATGTCACCACTGCCCTCACAGTCGAGGGCCTTCGGCGTGGGAGAGCGAGACCCCTGTGACTTCATAGGACCCTACTCCATGAACCCGTCCACGCCTTCCGATGGCACCTTTGGCCAAGGCTTCCACTGCGACTCGCCCAGCCTGGGTGCTCCCGAGCTTGATGGCAAGCATTTCCCACCGCTGGCCCACCCACCCACGGTGTTTGACGCCGGCCTGCAGAAGGCATACTCGCCCACCTGCTCGCCTACACTGGGCTTCAAGGAAGAGCTGCGGCCACCGCCCACAAAGCTGGCTGCCTGCGAGCCCCTCAAGCATGGACTCCAGGGGGCCAGCCTGGGCCACGCAGCTGCAGCCCAGGCCCACCTGAGCTGCCGGGACCTGCCGCTGGGCCAGCCCCACTACGATTCCCCCAGCTGCAAGGGCACAGCCTATTGGTACCCTCCAGGCTCAGCTGCCCGCAGCCCGCCCTATGAAGGCAAGGTGGGTACAGGGCTGCTGGCTGACTTCCTGGGCAGGACGGAGGCCGCGTGCCTCAGTGCCCCTCACCTGGCTAGCCCACCAGCCACGCCCAAGGCCGACAAGGAGCCACTGGAAATGGCCCGGCCCCCTGGCCCACCCCGTGGCCCTGCTGCAGCCGCTGCTGGCTATGGCTGCCCACTCCTTAGTGACTTGACCCTGTCCCCCGTGCCGAGGGACTCGCTGCTGCCCCTGCAGGACACCGCCTACAGGTACCCAGGCTTTATGCCCCAGGCGCATCCTGGCCTGGGTGGGGGCCCCAAGAGCGGCTTCCTGGGGCCCATGGCGGAACCTCACCCCGAGGACACATTCACCGTCACATCCCTGTAGTGCCAACTGAAGTGCCGACTGGACCGCGAGGTTTTGTTCCTGG___CTTTCAGAAAACCAACGCCAAGATCCCTCCCAGCGTCCACATCGTCCTCTGGCAGGAGCTCCTGCCCCTCTGCCTCCCACCCTGCCCCCTACACCCCCTGCAGACCCATCTCCCTCCACCCCCTCCCACCCATCTCCTCCACGCAGAAGCCGAAGGTGAGCCCTTTCTGCACAAAACCAGCAATTGTAAATACTTTTTAAAAATGTACAAAACTTAAAAACAAAACACAGTTTTAGAAAAAGACAAAAAAAAAAAAGAGAGAGAGAGAGCGAGAGAGCGAGCGTGTGCAAGAGGTTGCGAGCGGGGCCCCGAGGTGTCCAGAGCCCCTGCAAGTATGCACTGAGAAATTTATCTACAGGTCGTTTGACAAAAATGAACAATATCCTATTTATTGTATATACTGTTTTATTATAAATCGTGGATTGTATATTGCATTCTGTAAACCTGCTGTGGTCCCGTGGTGTGCAAATTCGCATGGTGGGGGGGAGGGAGAAGAACCTCTTGCGGGAGCTTTTTTTTTCTTTCTTATTTTTCACTCTTTTGGGTTTTCTCTTCTGTTGTTGTTGTTGTTGTTTTCTGTTGGCAGGACACACCCAAAGATCCAAGTTTGTATTAAAAAGAAATGAAAAAAAGCAAAAAAAAAACAAAAAAAAAACAAAAAAAAAAAACCAA)$ . 11BR013 ENSG00000055070.17 ENSG00000203963.11 +/+ -/- chr1:16367308 chr1:67115464 CDS/splice-site CDS/splice-site inversion 3 3 0 79 14 high in-frame . |Domain_of_unknown_function_(DUF4545)(100%) . . ENSG00000055070.17 ENSG00000203963.11 ENST00000401089.3 ENST00000371007.6 downstream downstream . ^(GGGGGTGGGGGAGGAGGGAA)AGCGGCGAGTAAGATGGAAGATGAGGAGGTCGCTGAGAGCTGGGAAGAGGCGGCAGACAGCGGG|GCATGTCTCTTTCAAATGTGAGCCTGAACCTAGAAAGAGTAATTTTGAAAAGTCAAATTTAAGACCATTCTTTATTCAAACAAATGTAAAAAATAAAGAAAGTGAGTCAACAG___CTCAAATTGAAAAAAAA(CCTAGGAAACCATTGGATTCTGTTGGTCTCTTAGAAGGTGATAGAAATAAAAG___AAAAAAATCTCCACAGATGAACGATTTTAATATAAAAGAAAACAAATCGGTCAGAAATTATCAATTAAGTAAGTATAGGTCAGTAAGAAAGAAAAGCTTGCTCCCGTTGTGCTTTGAGGATGAATTGAAAAATCCACATGCCAAGATAGTCAACGTTAGTCCAACAAAGACAGTAACTTCTCACATG___GAACAAAAGGACACAAATCCCATAATTTTCCATGACACAGAATATGTACGAATGTTACTTTTGACAAAAAATAGATTTTCTTCTCATCCTTTGGAAAATGAAAACATTTACCCACATAAAAGAACAAATTTCATTTTAGAAAGAAATTGTGAAATCCTCAAATCTATAATTGGCAATCAATCTATTTCTCTTTTCAAACCCCAAAAAACTATGCCTACAGTACAGAGAAAAGATATACAGATCCCTATGTCTTTTAAAGCGGGCCACACAACTGTAGATGATAAACTAAAGAAGAAAACTAATAAGCAGACACTAGAAAACAGATCTTGGAATACACTCTATAATTTCTCACAGAATTTTTCTAGCCTAACAAAACAATTTGTGGGTTACCTTGATAAAGCTGTTATTCATGAAATGAGTGCCCAAACTGGAAAATTTGAAAGAATGTTTTCTGCAGGAAAACCAACGAGCATACCCACATCCAGTGCCTTACCTGTCAAATGTTACTCAAAGCCTTTTAAATATATATATGAACTAAATAATGTAACGCCACTGGATAATTTGTTAAACTTATCAAATGAAATTTTAAATGCCTCATAAAATATTATGTATGCAGCAATATTTGAGTAACAAGAAGCAAATATCCAAGTTCCAAAATTATAAAAGAAATTCTTATCCAAATAGTAATGTTCTAATTGATCATATAAGAAAGCAAAGCATAGACATTAGAATTATAAGTCAGCAGTGGTCTGTTCAAGAACAATCAACATTTTTAGAAAATAGTAGGACAAAATTAGGAAATAATTATCACCAAGAGGATCTAGTTCATGACTTTCTATTATCTCAATTAGATTGCTCAATCATCAGCCTTCCTATACTAAACTCTGATTCAGGACCAAGAAAGGCATAGTCTGACTCTGGAAATGCGCTGTTGGAAGCCAAATAACATCAATACTCTTGTTCTATAATTGAATATCAAATAAGACAAATTACCATTAATTTAATGACTGTGGAGTTAATTGTATACCAGCATTTCAGCAAATCATCATCAATAGTATTACATTAGCAATTTATGCAATTAAAAGGGCTTTGTAAAACTTTGAATAGATTTTATTGTCATTAGTAGCTGTTGGAACTTCATTATTATATAATGTTTTTGCAAACTTTAACTTTTTTCTAAATTGTTAAATAAAAGAATAACTATCCTTAATCTAAATAATTTTGGTAGCAAATCCTATAAGGTATTAAACATTTTAAGGTATATTATTACATTGCTATTTTACTGTTTCTCATTAACCCAAACAGTTTAAAGGCAGAATTCCACTTAGAAACAAGTTGCATTTTGAAAGTTTATTTGTAATCCATTTGTTTGGAATTCAGAAATGTATTTCACATAAAAATAATCTTGGAAGTAATAAATTCCAAAATTAACTAACAAAA)$ MRRSLRAGKRRQTAg|HVSFKCEPEPRKSNFEKSNLRPFFIQTNVKNKESESTAQIEKKPRKPLDSVGLLEGDRNKRKKSPQMNDFNIKENKSVRNYQLSKYRSVRKKSLLPLCFEDELKNPHAKIVNVSPTKTVTSHMEQKDTNPIIFHDTEYVRMLLLTKNRFSSHPLENENIYPHKRTNFILERNCEILKSIIGNQSISLFKPQKTMPTVQRKDIQIPMSFKAGHTTVDDKLKKKTNKQTLENRSWNTLYNFSQNFSSLTKQFVGYLDKAVIHEMSAQTGKFERMFSAGKPTSIPTSSALPVKCYSKPFKYIYELNNVTPLDNLLNLSNEILNAS* 11BR013 ENSG00000055070.17 ENSG00000203963.11 +/+ -/- chr1:16367308 chr1:67096321 CDS/splice-site CDS/splice-site inversion 1 1 0 79 46 medium out-of-frame . |Domain_of_unknown_function_(DUF4545)(100%) . . ENSG00000055070.17 ENSG00000203963.11 ENST00000401089.3 ENST00000371007.6 downstream downstream . ^(GGGGGTGGGGGAGGA)GGGAAAGCGGCGAGTAAGATGGAAGATGAGGAGGTCGCTGAGAGCTGGGAAGAGGCGGCAGACAGCGGG|CTCAAATTGAAAAAAAACCTAGGAAACCATTGGATTCTGTTGGTCTCTTAGAAGGTGATAGAAATAAAAG MRRSLRAGKRRQTAg|sn* 11BR013 ENSG00000183291.17 ENSG00000162645.13 -/- -/+ chr1:86903281 chr1:89117644 CDS/splice-site CDS inversion/5'-5' 2 3 1 330 131 high out-of-frame . . . . ENSG00000183291.17 ENSG00000162645.13 ENST00000611507.4 . upstream upstream . ^(GGAGAAGAAGGCGGGGCTAAAACTGGCGAAGGCGTGGCTTCTTGGCTGCTTGACGAAGTGTCGTGAATAAAAGAAAGGAGACCGCAGAAGTAAAGAAGTGGGGAGTTTAGGCAAGTGCCTGATTTGGGTAATCGAAAGCACCCAGTGATTGTATTTGATGACTTTTAAGCTTTCATATGCCGTTATTTAATACCTGTCACTTCCAAATGAGAGATGTAAGGGCAACGGCCGTTAGCGTTCTGTTTTGGATCAGGCTCTGGAGTGGACGCCCCTAGCTTAGGGGTCCTTCTAGGCAGCCAGAAACCTGCG)GAAAATGGTAGCGATGGCGGCTGGGCCGAGTGGGTGTCTGGTGCCGGCGTTTGGGCTACGGTTGTTGTTGGCGACTGTGCTTCAAGCG___GTGTCTGCTTTTGGGGCAGAGTTTTCATCGGAGGCATGCAGAGAGTTAGGCTTTTCTAGCAACTTGCTTTGCAGCTCTTGTGATCTTCTCGGACAGTTCAACCTGCTTCAGCTGGATCCTGATTGCAGAGGATGCTGTCAGGAGGAAGCACAATTTGAAACCAAAAAG|TTCCAGGGTGAAATCTCTGAGAGTCCACACAAATGCTGGAAAAAAGCTCACAAAGTCAGCTGAGTCGTCTACAGAATTGTTACCAGGT...___GCTCAAGATGTCTCTTACACATCTGAATGGAG...ATACTGAAGTTGGTCCATGGCCTGCTGGTTGATGGTTCCCATGCTATTGTACACGAAGGTGCTGCTCAGGAGGATGGCCAAGGCAAAGATCCAGGAGTCATTCTCATTGTCACCCTGTAAGTCATTGTAGAAGCCACAAAGAAGAATGAC MVAMAAGPSGCLVPAFGLRLLLATVLQAVSAFGAEFSSEACRELGFSSNLLCSSCDLLGQFNLLQLDPDCRGCCQEEAQFETKK|fqgeisesphkcwkkahkvs* 11BR013 ENSG00000117682.17 ENSG00000235400.1(83502),ENSG00000162618.15(55603) +/+ ./- chr1:26460144 chr1:78834161 CDS/splice-site intergenic inversion 3 1 0 37 2 high out-of-frame . Putative_undecaprenyl_diphosphate_synthase(100%)| . . ENSG00000117682.17 . ENST00000236342.12 . downstream downstream . ^(ATGAGGAAGTGCCGGCCCACTGAAGCCGTGGGGACGCGCCCAGCGGAGCTAATCAG___ATTACCTGGCTGGTGTTTGCTTGTTCTGGAGTGATCTTCTGACTGGAAAAGAACTATGTCATGGATCAAGGAAGGAGAGCTGTCACTTTGGGAGCGGTTCTGTGCCAACATCATAAAG___GCAGGCCCAATGCCGAAACACATTGCATTCATAATGGACGGGAACCGTCGCTATGCCAAGAAGTGCCAGGTGGAGCGGCAGGAAGGCCACTCACAGGGCTTCAACAAGCTAGCTGAG___ACTCTGCGGTGGTGTTTGAACCTGGGCATCCTAGAGGTGACAGTCTACGCATTCAGCATTGAGAACTTCAAACGCTCCAAGAGTGAGGTAGACGGGCTTATGGATCTGGCCCGGCAGAAGTTCAGCCGCTTGATGGAAGAAAA___GGAGAAACTGCAGAAGCATGGGGTGTGTATCCGGGTCCTGGGCGATCTGCACTTGTTGCCCTTGGATCTCCAGGAGCTGATTGCACAAGCTGTACAGGCCACGAAGAACTACAACAA___GTGTTTCCTGAATGTCTGTTTTGCATACACATCCCGTCATGAGATCAGCAATGCTGTGAGAGAGATGGCCTGGGGGGTGGAGCAAGGCCTGTTGGATCCCAG___TGATATCTCTGAGTCTCTGCTTGATAAGTGCCTCTATACCAACCGCTCTCCTCATC)CTGACATCTTGATACGGACTTCTGGAGAAGTGCGGCTGAGTGACTTCTTGCTATGGCAG___ACCTCTCACTCCTGCCTGGTGTTCCAACCCGTTCTGTGGCCAGAGTATACATTTTGGAACCTCTTCGAGGCCATCCTGCAGTTCCAGATGAACCATAGCGTGCTTCAG|GTACAGAAGAACGAACCTCCACAAAAGAAATAGAGAATAAATGACCTGAGAAGAATGAAGGAAAGCAGATATGACATAGAAACTAAGAAAAGAGATTTTTTTTCAAGAAGATTGAGTCAAAAGGACAACATCTTGCTGAAAGTTCAAGTAAATTACTG MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQ|vqkneppqkk* 11BR013 ENSG00000117118.10 ENSG00000117500.13 -/- -/- chr1:17044761 chr1:93160226 CDS/splice-site CDS/splice-site duplication 2 2 0 148 53 high out-of-frame . 2Fe-2S_iron-sulfur_cluster_binding_domain(100%)|emp24/gp25L/p24_family/GOLD(100%) . . ENSG00000117118.10 ENSG00000117500.13 ENST00000375499.8 ENST00000370282.8 upstream downstream . ^(GTCAGGAGCCAAGATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGCCGGTTGCCGG)CCACAACCCTTGGCGGAGCCTGCCTGCAG___GCCTCCCGAGGAGCCCAGACAGCTGCAGCCACAGCTCCCCGTATCAAGAAATTTGCCATCTATCGATGGGACCCAGACAAGGCTGGAGACAAACCTCATATGCAGACTTATGAAGTTGACCTTAATAA|GTTTTAGATGGAGCAGGATTAGATATTGATTTCCATCTTGCCTCTCCAGAAGGCAAAACCTTAGTTTTTGAACAAAGAAAATCAGATGGAGTTCACAC___TGTAGAGACTGAAGTTGGTGATTACATGTTCTGCTTTGACAATACATTCAGCACCATTTCTGAGAAG(GTGATTTTCTTTGAATTAATCCTGGATAATATGGGAGAACAGGCACAAGAACAAGAAGATTGGAAGAAATATATTACTGGCACAGATATATTGGATATGAAACTGGAAGACATCCTG___GAATCCATCAACAGCATCAAGTCCAGACTAAGCAAAAGTGGGCACATACAAACTCTGCTTAGAGCATTTGAAGCTCGTGATCGAAACATACAAGAAAGCAACTTTGATAGAGTCAATTTCTGGTCTATGGTTAATTTAGTGGTCATGGTGGTGGTGTCAGCCATTCAAGTTTATATGCTGAAGAGTCTGTTTGAAGATAAGAGGAAAAGTAGAACTTAAAACTCCAAACTAGAGTACGTAACATTGAAAAATGAGGCATAAAAATGCAATAAACTGTTACAGTCAAGACCATTAATGGTCTTCTCCAAAATATTTTGAGATATAAAAGTAGGAAACAGGTATAATTTTAATGTGAAAATTAAGTCTTCACTTTCTGTGCAAGTAATCCTGCTGATCCAGTTGTACTTAAGTGTGTAACAGGAATATTTTGCAGAATATAGGTTTAACTGAATGAAGCCATATTAATAACTGCATTTTCCTAACTTTGAAAAATTTTGCAAATGTCTTAGGTGATTTAAATAAATGAGTATTGGGCCTAATTGCAACACCAGTCTGTTTTTAACAGGTTCTATTACCCAGAACTTTTTTGTAAATGCGGCAGTTACAAATTAACTGTGGAAGTTTTCAGTTTTAAGTTATAAATCACCTGAGAATTACCTAATGATGGATTGAATAAATCTTTAGACTACAAAAGCCCAACTTTTCTCTATTTACATATGCATCTCTCCTATAATGTAAATAGAATAATAGCTTTGAAATACAATTAGGTTTTTGAGATTTTTATAACCAAATACATTTCAGTGTAACATATTAGCAGAAAGCATTAGTCTTTGTACTTTGCTTACATTCCCAAAAGCTGACATTTTCACGATTCTTAAAAACACAAAGTTACACTTACTAAAATTAGGACATGTTTTCTCTTTGAAATGAAGAATATAGTTTAAAAGCTTCCTCCTCCATAGGGACACATTTTCTCTAACCCTTAACTAAAGTGTAGGATTTTAAAATTAAATGTGAGGTAAAATAAGTTTATTTTTAATAGTATCTGTCAAGTTAATATCTGTCAACAGTTAATAATCATGTTATGTTAATTTTAACATGATTGCTGACTTGGATAATTCATTATTACCAGCAGTTATGAAGGAAATATTGCTAAAATGATCTGGGCCTACCATAAATAAATATCTCCTTTTCTGAGCTCTAAGAATTATCAGAAACAGGAAAGAATTTAGAAAAACTTGAGAAAACCTAATCCAAAATAAAATTCACTTAAGTAGAACTATAAATAAATATCTAGAATCTGACTGGCTCATCATGACATCCTACTCATAACATAAATCAAAGGAGATGATTAATTTCCAGTTAGCTGGAAGAAACTTTGGCTGTAGGTTTTTATTTTCTACAAGAATTCTGGTTTGAATTATTTTTGTAAGCAGGTACATTTTATAAAATGTAAGCCCTACTGTAAGGTTTAGCACTGGGTGTACATATTTATTAAAAATTTTTATTATAACAACTTTTATTAAAATGGCCTTTCTGAACACTTTATTTATTGATGTTGAAGTAAGGATTAGAAACATAGACTCCCAAGTTTTAAACACCTAAATGTGAATAACCCATATATACAACAAAGTTTCTGCCATCTAGCTTTTTGAAGTCTATGGGGGTCTTACTCAAGTACTAGTAATTTAACTTCATCATGAATGAACTATAATTTTTAAGTTATGCCCATTTATAACGTTGTTTATGACTACATTGTGAGTTAGAAACAAACTTAAAATTTGGGGTATAGAACCCCTCAACAGGTTAGTAATGCTGGAATTCTTGATGAGCAATAATGATAACCAGAGAGTGATTTCATTTACACTCATAGTAGTATAAAAAGAGATACATTTCCCTCTTAGGCCCCTGGGAGAAGAGCAGCTTAGATTTCCCTACTGGCAAGGTTTTTAAAAATGAGGTAAATGCCGTATATGATCAATTACCTTAATTGGCCAAGAAAATGCTTCAGGTGTCTAGGGGTATCCTCTGCAACACTTGCAGAACAAAGGTCAATAAGATCCTTGCCTATGAATACCCCTCCCTTTTGCGCTGTTAAATTTGCAATGAGAAGCAAATTTACAGTACCATAACTAATAAAGCAGGGTACAGATATAAACTACTGCATCTTTTCTATAAAACTGTGATTAAGAATTCTACCTCTCCTGTATGGCTGTTACTGTACTGTACTCTCTGACTCCTTACCTAACAATGAATTTGTTACATAATCTTCTACATGTATGATTTGTGCCACTGATCTTAAACCTATGATTCAGTAACTTCTTACCATATAAAAACGATAATTGCTTTATTTGGAAAAGAATTTAGGAATACTAAGGACAATTATTTTTATAGACAAAGTAAAAAGACAGATATTTAAGAGGCATAACCAAAAAAGCAAAACTTGTAAACAGAGTAAAAATCTTTAATATTTCTAAAGACATACTGTTTATCTGCTTCATATGCTTTTTTTAATTTCACTATTCCATTTCTAAATTAAAGTTATGCTAAATTGAGTAAGCTGTTTATCACTTAACAGCTCATTTTGTCTTTTTCAATATACAAATTTTAAAAATACTACAATATTTAACTAAGGCCCAACCGATTTCCATAATGTAGCAGTTACCGTGTTCACCTCACACTAAGGCCTAGAGTTTGCTCTGATATGCATTTGGATGATTAATGTTATGCTGTTCTTTCATGTGAATGTCAAGACATGGAGGGTGTTTGTAATTTTATGGTAAAATTAATCCTTCTTACACATAATGGTGTCTTAAAATTGACAAAAAATGAGCACTTACAATTGTATGTCTCCTCAAATGAAAATTCTTTATCTGAAATTTTAAAAGACATTGATTCCACATGTAAGGATTTTTCATCTGAAGTACAATAATGCACAATCAGTGTTGCTCAAACTGCTTTATACTTATAAACAGCCATCTTAAATAAGCAACGTATTGTGAGTACTGATATGTATATAATAAAAATTATCAAAGAAAATTAACTGCCAGTCATTTGTAAATGCTGTCTACTCCTGAAAGCCTTCCTTCATCTCTATTTAGTTAATAATGTGCTCTCTCCTCCTGTTTTGAAACCCCATAGCTCTCTACACCTCTTATTGTACATCACTCTACTTTGCATTGGAGTTCTGTTTCTATATGTACTTATTCACCTGTTGCCTAAACATGCACTGTTCCTAAAAGGTACAGTTTTTGCTCAAAATATATGAAAGGAAAGATAATCAGTTCTTAAAGTTTGGTATGCTAAATAAGCACCCAGGGAACTTACCTGCTCCACCTCACCCCAGAAATTGATTATTCAGGTCTGGAATATGGCTCAGGATTCTTAATTTTCAACCAACACAATATAGAATCCTGTCAGTTATCCTTGGATCATTTGCTAAGTGATCTTGCAAAATCAAAACTCCTTTGAGACTATTTCATTTTCAGAAATATTTTAAAACTTGTTCAGAAACATCTTAAAACTTGTTAGCATATAGGAAAAGTACAATGCTTGGTGTAGGTAGGTTATTATTTGGTCATTTCCCTCAAACCATCCAGACAAGCCACTCTTCTACCACAAGCTGGTAGAAATCCTTAGGCACCTTTCTGCTTCTGCACTGCTATCACTTTCAGGTGTCTAAGGCTTCTGGAAGGCTGTTGTCATAACCTGGAGCCATACACCTAATGTACGTCTGGGGAAAGGACACCAATTAAAGAATCTAGAGCTAGGATGATGTTACATAAGACAGGGCACAATGGAGATGGACTCTGGATCCCTGCATCTGAAAGAAAAAGGCAAGAAAATGCAGGGCAGGGAAAATCCTGAAGGTCTTCACTGACCATGAATTAAAATCCTAATTGACAGTTTTACAAACAAAAACCCTCGTTTTAGTACTTGTGTTGTTTTTGTTTCTGTTTTAACAAGCTTAGATTTATTATTGTGCCTTTTATGGAAGATGAGGAAGAAATAGGAAAGCAGTAAAATGAACAATGAGAATCTGTTACCCAAACTGATATAAACTCCCTCAGAAAGAAAGATACTACTCCCTAATCCTGGAAGTGTTAAGTGGCAATAATGATCAAATGTTGTAAAGGGGATTGTTACTACAGCTAATATGAAATGGGAGGCTGGACTAAATCTAACCTTTCTACCCTTGATTTCAATTCTAAAAGGACACGTAATACCATTGCAGAAAGAAAAGACAGTTCCAAATGATAAATTTTAGAGTTGTTTTGCTAGGATGCAAGAGAAATTGGATAAGTGGACCACTCATACGTTGCTGGTGAGATATGAAATAGTAGAGCCACTGTGGAAAATATTCTTGGCAGTTTCTTATAAAACTAAACATACATTTAACATATAACTGGCATTTGTACTACTTGACAGTTATCCCTGAGAAGTTAAAACTTAACATTCACAAATGTTACATAGCACCTTCATTTATAATAGCCAAAACCCGGAAACAACCTGGATGTCCTTCAAAAAGAGTGAATGGTTTAGTATGTCCACACCATGGAATACTAAATAGTAATATGAAGGAACAAACTACTGATACATGTAACAAATTGCATGGACCTCAAGGGAATTATGCTTGGGTGGTTTGGGGGGACAATCCTAAAGTTTTACACACTGTATGATTCTGTTTTTGTAACATTCTTAAATAATAAAGCTATAGAGATGGGAAACAAGATTCGTGGTTGCCAGGTCTTGGGACTGAAGGGAAGGAGAATGTGGCTATAAAGGGAGCCTTGTGGTGGAAAAGTTCTGTAGTTTGATTGTGGTGATTACATAAATATACATGTGAAATGTTAGAAGTATTTATAGCTGAAACATATTAGTATGTTGGTATATACATATTTCTGACTAATTAATTTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCTAAGCTCAAGTGATGTGCCCGCCTCAACTTCCCAAGTGCTGAGATTACAGGCGTGAGCCACCATGTCCGGCCTGTTTTTTCCTATGCATGCATAATTACGATCAAGTTTAATTTGTAATTAGGCACATTAAGAGATTAACAATAGCTAACAAAATGGAACAATTACAACAATATATTGTAATAAAAGTTATGCAAATGTG)$ MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNk|f* 11BR013 ENSG00000158195.11 ENSG00000168528.12 -/- +/+ chr1:27489986 chr1:31432967 5'UTR/splice-site CDS/splice-site inversion 3 1 0 33 279 high . . |Serine_incorporator_(Serinc)(100%) . . ENSG00000158195.11 ENSG00000168528.12 ENST00000618852.5 ENST00000373710.5 upstream upstream . ^(GCCCAGGGCGGGGAATCGCGTAATGGCGGACACAGGCAGGGCGAGCGCGGCTG)GGGGCGTAGCGCGCTGAGGGGGTCCGGCCGTTTGGCAGCCCGCGAGGCGGTCCGCGGGAGCACACTCTGTGCGGAGACTGGGCGGCCGGCCGACCCTTCCTGTCGCTGACGGCGACTGCGGGAGGCCAG|TCTGCGCTCCTCAGACCACCGGCAGGTGAACAGCCTGATGCAGACCGAGGAGTGCCCACCTATGCTAGACGCCACACAGCAGCAGCAGCAG(GTGGCAGCCTGTGAGGGCCGGGCCTTTGACAACGAGCAGGACGGCGTCACCTACAGCTACTCCTTCTTCCACTTCTGCCTGGTGCTGGCCTCACTGCACGTCATGATGACGCTCACCAACTGGTACAA___GCCCGGTGAGACCCGGAAGATGATCAGCACGTGGACCGCCGTGTGGGTGAAGATCTGTGCCAGCTGGGCAGGGCTGCTCCTCTACCTGTGGACCCTGGTAGCCCCACTCCTCCTGCGCAACCGCGACTTCAGCTGAGGCAGCCTCACAGCCTGCCATCTGGTGCCTCCTGCCACCTGGTGCCTCTCGGCTCAGTGACAGCCAACCTGCCCCCTCCCCACACCAATCAGCCAGGCTGAGCCCCCACCCCTGCCCCAGCTCCAGGACCTGCCCCTGAGCCGGGCCTTCTAGTCGTAGTGCCTTCAGGGTCCGAGGAGCATCAGGCTCCTGCAGAGCCCCATCCCCCCGCCACACCCACACGGTGGAGCTGCCTCTTCCTTCCCCTCCTCCCTGTTGCCCATACTCAGCATCTCGGATGAAAGGGCTCCCTTGTCCTCAGGCTCCACGGGAGCGGGGCTGCTGGAGAGAGCGGGGAACTCCCACCACAGTGGGGCATCCGGCACTGAAGCCCTGGTGTTCCTGGTCACGTCCCCCAGGGGACCCTGCCCACTTCCTGGACTTCGTGCCTTACTGAGTCTCTAAGACTTTTTCTAATAAACAAGCCAGTGCGTGTACC)$ . 11BR013 ENSG00000137941.17 ENSG00000023909.10 -/- -/- chr1:83942463 chr1:93904588 CDS/splice-site CDS/splice-site duplication 1 1 0 7 10 high in-frame . Tubulin-tyrosine_ligase_family(100%)| . . ENSG00000137941.17 ENSG00000023909.10 ENST00000260505.13 ENST00000370238.8 upstream downstream . ^(GTTCCAGGCACTCCGCGTCGAGCACCGGAGTCCCGAGCCGTGGCTGCCACGGGCGGTGGGCGGGCGGAGGAGAGCACCGGACCACCAGTGCAGGCTGCCGAGTCGGGGCGGCCGCCCACGGGGAAGCTGCGAGGCGCGGGAGCACCTGGGGGACCGCTTGCAGCGGGGACGCGAGGACCCGGGCTGGGCTTTCCTCACCCGG___GTACCTTGTTATCCCATAACTTTGGTATCCTGAAATCTGAGGATTCCACCAAGATAATATGATAAGAACTTTCAGTGATTTGGGGCCATATCCTACTTAGACTAATGTGGAATTTCCAGATTTCCTGAGAGCTTGGTACAGCAGCACACACTGCTTGCTAATCAGCACAGGCAATAATGCCATCTCTGCCTCAAGAAGGAG___TTATTCAGGGACCCTCTCCCCTGGATTTGAATACAGAATTACCTTATCAAAGCACAATGAAAAGGAAAGTCAGAAAGAAGAAAAAGAAGGGAACCATTACAGCAAATGTTGCCGGGACAAAGTTTGAAATTG___TTCGTTTAGTAATAGATGAAATGGGATTTATGAAAACTCCAGATGAGGATGAAACAAGTAATCTTATATGGTGTGATTCTGCTGTTCAGCAGGAGAAAATTTCAGAGCTGCAAAATTATCAG___AGGATCAACCATTTTCCAGGAATGGGGGAGATCTGTAGGAAGGATTTCTTAGCAAGAAATATGACCAA___AATGATCAAGTCTCGGCCTCTGGATTATACCTTTGTTCCTCGAACTTGGATCTTTCCTGCTGAATATACTCAATTCCAAAATTATGTGAAAGAATTGAAGAAAAAACGGAAGCAGAAAACTTTTATAGTGAAACCAGCTAATGGTGCAATGGGTCATGG___GATTTCTTTGATAAGAAATGGTGACAAACTTCCATCTCAGGATCATTTGATTGTTCAAGAATACATTGAAAAGCCTTTCCTAATGGAAGGTTACAAGTTTGACTTAC)GAATTTATATTCTGGTTACATCGTGTGATCCACTAAAAATATTTCTCTACCATGATGGGCTTGTGCGAATGGGTACAGAGAAGTACATTCCACCTAATGAGTCCAATTTG|CTTCATGATTGTATCCAAAAAACCTTGAATGAATGGAGTTCCCAAATCAACCCAGATTTGGTCAGG___GAGTTTCCAGATGTCTTGGAATG(CACTGTATCTCATGCAGTAGAAAAGATAAATCCTGATGAAAGAGAAGAAATGAAAGTTTCTG___CAAAACTGTTCATTGTAGAATCAAACTCTTCATCATCAACTAGAAGTGCAGTTGACATGG___CCTGTTCAGTCCTTGGAGTTGCACAGCTGGATTCTGTGATCATTGCTTCACCTCCTATTGAAGATGGAGTTAATCTTTCCTTGGAGCATTTACAGCCTTACTGGGAGGAATTAGAAAACTTAGTTCAGAGCAAAAAGATTGTTGCCATAGGTACCTCTGATCTAGACAAAACACAGTTGGAACAGCTGTATCAGTGGGCACAG___GTAAAACCAAATAGTAACCAAGTTAATCTTGCCTCCTGCTGTGTGATGCCACCAGATTTGACTGCATTTGCTAAACAATTTGACATACAGCTGTTGACTCACAATGATCCAAAAG___AACTGCTTTCTGAAGCAAGTTTCCAAGAAGCTCTTCAGGAAAGCATTCCTGACATTCAAGCGCACGAGTGGGTGCCGCTGTGGCTACTGCGGTATTCGGTCATTGTGAAAAGTAGAGGAATTATCAAATCAAAAGGCTACATTTTACAAGCTAAAAGAAGGGGTTCTTAACTGACTTAGGAGCATAACTTACCTGTAATTTCCTTCAATATGAGAGAAAATTGAGATGTGTAAAAATCTAGTTACTGCCTGTAAATGGTGTCATTGAGGCAGATATTCTTTCGTCATATTTGACAGTATGTTGTCTGTCAAGTTTTAAATACTTATCTTGCCTCCATATCAATCCATTCTCATGAACCTCTGTATTGCTTTCCTTAAACTATTGTTTTCTAATTGAAATTGTCTATAAAGAAAATACTTGCAATATATTTTTCCTTTATTTTTATGACTAATATAAATCAAGAAAATTTGTTGTTAGATATATTTTGGCCTAGGTATCAGGGTAATGTATATACATATTTTTTATTTCCAAAAAAAATTCATTAATTGCTTCTTAACTCTTATTATAACCAAGCAATTTAATTACAATTGTTAAAACTGAAATACTGGAAGAAGATATTTTTCCTGTCATTGATGAGATATATCAGAGTAACTGGAGTAGCTGGGATTTACTAGTAGTGTAAATAAAATTCACTCTTCAATACATGAATGGAAACTTAAATTTTTTTTTATGTGTCCTTGCTTATAGTTTAGCTGTAATAATTTAACCTTGTATTCTTGTGCCATATTCTGTCTTTTTATTACTTATAAAGACAAACCAAAGTAAATCTGAAAGGAGACTAGAAGCTTTGAAATTATTGTTTGGGGGTTTTATAAAAGCAACTACTGTCACCTCCATCCAGATTCTTTTAAATTATTGATCCATCCATAGTATATATTGCTACTCATTCAAGAATCCTCAATAAGTATTGAGTATTTACCATATGTTGGGATACTGTGGGCTCTGGAGAGAGGAGGGGGCAATAGAGCTAGGAATTAAGAATCAGTTGAGTAAAATGTGTAATATTTATTCCCCATTAATAACTGACTAGGAAGGACTAAAAGCCAGAAAGGGGATGAAAAAAAAATCCTTAATTCAGGGCCGACATTATCTACTTAAACAACTTTGAGATATGGTCTTAATTATTTTAAAGCAGAATAATATAATTGAAAGTTTATAGCTAAAAGAGACTATATAGGTCATTTAGTATAATTCTTCATTAGTTTACGAACCACAAAATTGCAAATAAATAAGCTATGAACTTTGATGTACACTATAAATCTCCTTAATTCTATAAATTTGTGTCTGTAACCTGAATAGTTTGAAAACTTCTTTAAAAATCTCTTGTATTTCATCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTAAAACCCCATCTCTACTAAAATACAAAAATTGGCTGGGCGTGGTGGCACTCGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCGAGATCACATCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAACTCTTGTATCTCAATATTTTTAAACCACAGGCCTAAATAAAACTAATTTTGCTCAAGTTTTCTCAACCTAGGGAAAAAGAACTATGGTTCCATATTCAAAATAAATATTATAGACCCTTTTCCTAAGTAGGATTTTGTGGTTTACTGATTGGGTAATTTGATCATTAAAATTATGTGAAATCTGCCCGGGCACACCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGATGATCACCTGAGGTCAGGAGTTCTAGACCAGCCTGGCTAACATGGTGAAACCCTGTATCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAATCCCAGCTACTTTGGAGGCGAGGCACGAGAATCGCTTGAACCTGGGAGGCGGAGTTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTGCGTCTCAAAAAAAAAAAAAAAAGAAAAATTATGTGAAATCATGTGATTTGCCTGGGAAAACTTGTTTAGATATTGAGCTACTTATGCCTTCTAGCCTTTATATTAATTGTATGTAATGTTATTAAATATATATATAGTTCATCTTTACATTTGGAAATGCCCAACATTTTTTTCATATAAGTCCTTAAACAAGCGTTCATTTTATTTTAAATCTATACAGTGAACTGGCCAAGATATTTTAAGAGGGAACTTTAATATCCCATTTATTGTTTTTATAACCCTGGACTTATAAAAATGGGTTGTTTGAAGGGTTATTTTGAAAGTGGGGGAAAAAAAAACTTAGTTGCTAATGTATCTAAACTTCAGCAGAGCTTTTTGGTGATCTCCTACCTGCACCCTCAACTCTTGACAAAGAAGCAAGACTATAGATTCATTTTCTGAAGGGGATCATGTATGGAATTTTTTGATGAGTTTTTACTTTTACCTCTCTACTCTTGATTTTCTATTATTGAATACTCTTTTAAAACACTGATTTTTAAGGCTTTATATATGTTTTCCAGGCTGATGTTCACATCTTTTTTTCATGAACTATCAGAATATAGTGAACACTTTTCAAATATTTAAGGACTTAATGTTTAAAAAGCCATAAAATAGAGAGTGGTAATACTACCAAATAATTACTTAAAACTGAAAGCTAAGTTATCAATAGTTTATATAAGAGATGTTTTCTGAGGAGATGTGCATCCAGTGAGACCAAGGTAGAAAGTTTATATAATTGTTTTTTTTCCAGTAAATATGAAAAAAAAAGCTGTAGCTTGTTTATTACATGTCCAAAATACAGTGGAGCCTTACTTTAACACAATGTACTGTAACTTGGAATTTGTTCTGTTATGAGTCTATCTTGAATTCCCATCCATGAAACTGTAGTCACCAAAAGCAACAAGTATTTTCACATGATGTAAAAGACCATACTATGATGGCCATTGCTAGAAATTGAATCACAAATAATAGCTAATAATTTTTCATTTTTCAAAAAAGATCATTTGGATAGCAGCTATGTATAAAATGGAAAATAAAAAATTATTCTATTTTGCATGAATAGTTCAGACTTTCCCATACCACAGCCAAGCAGTAACTAAAATTAGGATCTTAATTTTCAATGATAAAAGGTCTAAGGTTCATTTAATTATGCTCCTTTAACACTGTCTTTCTAGATTTTTCACCCAGTATTTTCAAAATTTGGGAATGTAAACAATTGATATATTTATTGTATGTTGGCTAGCAGTTCATCCTTCTGCAAAATATGCATTCAGAGAAATGTGAAGCTTGTTTTAATGAAGACTTAAACCATTTGTGTCATTTGTGTTTTCATATTCAAATACACCAAATTAAAATTCTGAACCTATATTTTTCATCATTAACTTCCTAATATACCAGAACATATACCTTTTTCATGTAAAGTTGGCAATGGGATATGGCAGTTTTATTTTTGAAAAATATGTAACATGACTTTAATATTTTTATAGTTTTCAGAATTAGAAACATAGGAAGGGAAAATGTTTTAATTAGATAAGTCAACTTTTTATGTGTCTGTAGTGGTGTACTATAATAGCAAATTATAAAGCATTATTAAATGTTTATAATAATTTTTAATATTACCTACATTATGAATTTAACTAAAATAAAGTGTGAGTTGTATATTTTTTAATTGGGTTGTTTCAATAGCTGGAAGCATCCTGAAGCATTATATTGATTTTTGAACTATTTGAACTCAAACTGAGTATGATTTGAAAATAAATTAATAATTTAAAAACATCCAAA)$ MPSLPQEGVIQGPSPLDLNTELPYQSTMKRKVRKKKKKGTITANVAGTKFEIVRLVIDEMGFMKTPDEDETSNLIWCDSAVQQEKISELQNYQRINHFPGMGEICRKDFLARNMTKMIKSRPLDYTFVPRTWIFPAEYTQFQNYVKELKKKRKQKTFIVKPANGAMGHGISLIRNGDKLPSQDHLIVQEYIEKPFLMEGYKFDLRIYILVTSCDPLKIFLYHDGLVRMGTEKYIPPNESNL|LHDCIQKTLNEWSSQINPDLVREFPDVLECTVSHAVEKINPDEREEMKVSAKLFIVESNSSSSTRSAVDMACSVLGVAQLDSVIIASPPIEDGVNLSLEHLQPYWEELENLVQSKKIVAIGTSDLDKTQLEQLYQWAQVKPNSNQVNLASCCVMPPDLTAFAKQFDIQLLTHNDPKELLSEASFQEALQESIPDIQAHEWVPLWLLRYSVIVKSRGIIKSKGYILQAKRRGS* 11BR013 ENSG00000146670.10 ENSG00000086205.18 -/- -/- chr11:65083364 chr11:49183242 CDS/splice-site CDS/splice-site deletion 1 1 0 29 3 high out-of-frame . |Peptidase_family_M28(100%),Transferrin_receptor-like_dimerisation_domain(100%) . . ENSG00000146670.10 ENSG00000086205.18 ENST00000275517.8 ENST00000256999.7 upstream downstream . ^(CTTCCCGGTTGGCGCGCGCCCGGGGCGGCGGCGCTGGAGGAGCTCGAGACGGAGCCTAAGTTATGTCTGGGAGGCGAACGCGGTCCGGAGGAGCCGCTCAGCGCTCCG___GGCCAAGGGCCCCATCTCCTACTAAGCCTCTGCGGAGGTCCCAGCGGAAATCAGGCTCT)GAACTCCCGAGCATCCTCCCTGAAATCTGGCCGAAG___ACACCCAGTGCGGCTGCAGTCAGAAAGCCCATCGTCTTAAAGAGGATCGTGGCCCATGCTGTAGAG___GTCCCAGCTGTCCAATCACCTCGCAGGAGCCCTAGG|AATATGCTTATAGGCGTGGAATTGCAGAGGCTGTTGGTCTTCCAAGTATTCCTGTTCATCCAATTGGATACTATGATGCACAGAAGCTCCTAGA___AAAAATGGGTGGCTCAGCACCACCAGATAGCAGCTGGAGAGGAAGTCTCAAAGTGCCCTACAATGTTGG(ACCTGGCTTTACTGGAAACTTTTCTACACA___AAAAGTCAAGATGCACATCCACTCTACCAATGAAGTGACAAGAATTTACAATGTGATAGGTACTCTCAGAGGAGCAGTGGAACCAG___ACAGATATGTCATTCTGGGAGGTCACCGGGACTCATGGGTGTTTGGTGGTATTGACCCTCAGAGTGGAGCAGCTGTTGTTCATGAAATTGTGAGGAGCTTTGGAACACTGAAAAAGGAAG___GGTGGAGACCTAGAAGAACAATTTTGTTTGCAAGCTGGGATGCAGAAGAATTTGGTCTTCTTGGTTCTACTGAGTGGGCAGAG___GAGAATTCAAGACTCCTTCAAGAGCGTGGCGTGGCTTATATTAATGCTGACTCATCTATAGAAG___GAAACTACACTCTGAGAGTTGATTGTACACCGCTGATGTACAGCTTGGTACACAACCTAACAAAAGAG___CTGAAAAGCCCTGATGAAGGCTTTGAAGGCAAATCTCTTTATGAAAGTTGGACTAAAAAAAGTCCTTCCCCAGAGTTCAGTGGCATGCCCAG___GATAAGCAAATTGGGATCTGGAAATGATTTTGAGGTGTTCTTCCAACGACTTGGAATTGCTTCAGGCAGAGCACGGTATACTAAAAATTGG___GAAACAAACAAATTCAGCGGCTATCCACTGTATCACAGTGTCTATGAAACATATGAGTTGGTGGAAAAGTTTTATGATCCAATGTTTAAATATCACCTCACTGTGGCCCAGGTTCGAGGAGGGATGGTGTTTGAGCTAGCCAATTCCATAGTGCTCCCTTTTGATTGTCGAGATTATGCTGTAGTTTTAAGAAAGTATGCTGACAAAATCTACAGTATTTCTATGAAACATCCACAGGAAATGAAGACATACAGTGTATCATTTG___ATTCACTTTTTTCTGCAGTAAAGAATTTTACAGAAATTGCTTCCAAGTTCAGTGAGAGACTCCAGGACTTTGACAAAAGCAA___CCCAATAGTATTAAGAATGATGAATGATCAACTCATGTTTCTGGAAAGAGCATTTATTGATCCATTAGGGTTACCAGACAGGCCTTTTTATAG___GCATGTCATCTATGCTCCAAGCAGCCACAACAAGTATGCAGGGGAGTCATTCCCAGGAATTTATGATGCTCTGTTTGATATTGAAAGCAAAGTGGACCCTTCCAAGGCCTGGGGAGAAGTGAAGAGACAGATTTATGTTGCAGCCTTCACAGTGCAGGCAGCTGCAGAGACTTTGAGTGAAGTAGCCTAAGAGGATTCTTTAGAGAATCCGTATTGAATTTGTGTGGTATGTCACTCAGAAAGAATCGTAATGGGTATATTGATAAATTTTAAAATTGGTATATTTGAAATAAAGTTGAATATTATATATAGTTATGTGAGTGTTTATATATGTGTGTGTTTATATTGTTTATCTTCTCCCTATGGATTAAAACTGAATTTCATAATTATAAGAGGTTATTCTGAAGTGGAAAAATTTAACTCAGTATTAAATCTAAGGAGAATGGCCTAATATAGTAAAACTCTCATCTGGCATTATCAGGGAATCAAGTCTAATCTATTCATGTCACTTCACACAGAAGAAAACATCAGTATGTCAGAGAGCACACTGGGGAATATGCACAAGATTATCCCAAGCCAGAGGCCTCACGGCCTACCTGGCCAGCCTGGGCTGAGAGGATCACTATCTCAGCACACTATTTGGGAAATGGATCAAATCACACTTTTAGTAAATGTTATCACTCTATAGCATAAGAAATAATTATTTTTTATTTATATAAAAGGCTATAGTATAAAATATATGTATAGTAATTAAATGAACACTTGTGAACCTAATAGCCATATGAAGAAAATAACATTTCTAATATCTTTGGATGCCCCATGTACTAATGACAGTTATGCTTTTGCATTTTCTTGAATTTTATGTTTATTTATCTTTCCTCTGTCATTATTTATAATTTTATCACACATGGCTGTATCCTTTACATGTTTTGGCATTATGTATTTTTGAACTTTTTGTAAAGACAATCATACCATGTGTAATTTTCAGGGACTTGATTTTTTTCATTGACTTTTAAGGGTTCAAATATATTATCACTGTGGCTGTAGTTTGCCATATTTTGCTGATATAGAGCATTCATTCACATGAGGGTAGGATTCAGGGTCCATCAAGACAGAGAAAACATACAGTAATGTGAATAGGGAAAGTTAATATGAAGAATTATTAATTGTTACAGCATTGGAACAATGAAATATTGTCTAGTAATATGTAAAGAGAAGTCTCAAGAATATGTGATGAGCAGATGTAAGGAATTGCTCTTGTCTCCATGGTGAATTTGGAGCAGCCAATGAAGAGTCCCCTCACATTGTGGCCTCGCTCAAAGTTAAGAAGTCGCTGTAGTGTTGCCCTTGAAGAATCTGCTTCAAATTGACACTTCAGAACTCCCCAGAAACTTGTCTTCTGGGCCAATGTGTAAAGCTGTTTATGAAGAAATGTCAAGCCAGAGGGGCTCTACTACAAATTTGGCAAAGGACAATTTCAGGAGAAGCTCTTGGCCGCTGGGTTCTCCTGGCCACCATGAACTTCAGGAAGTGGGTGCCATAGCAGCAGCCTGAACTACAGAATCTGGGCACTGGTGTAGCTCTGTATGCCCTCCGTGTCAGATGCTGGAGATGTCATTTGCATTGCCAGAGTTTGCCAAGGGTGCACACAGAAAGCAGATTGAAAAGCACCCTCTTGGAACATCTCTCCAATGCCTTCTACTCACAAAGTTTAACATCATTAACACGTGACAAAGAAGAACTATTTAATGGGCCCAGATCTATTTATGAAGACAATCAAGTGGGAGTTTGGAGTGGATAACCCAAATTTGGATAACTGGTGAATAATAAAATGTATTTATTTCTGCTGGTGTA)$ MSGRRTRSGGAAQRSGPRAPSPTKPLRRSQRKSGSELPSILPEIWPKTPSAAAVRKPIVLKRIVAHAVEVPAVQSPRRSPR|nmligvelqrllvfqvflfiqldtmmhrss* 11BR013 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 14 8 0 170 47 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream duplicates(1),low_entropy(1) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCATCGACAGGGAAAACTTCGTGGACATTGTTGATGCCAAG___TTGAAGATTCCTGTCTCTGGATCCAAATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGGCCCCTTTCAGAG___GTGGCACCTTGACGAGGTCTTTTTAGAG)CTCAAGGATGGTCAGCAGATTCCTGTGTTCAAGCTCAGTGGGGAAAACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCAcAGTGGACCTTTATTGTCTCCTGAGCACCCATTCTTTGTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCTCTTCCTCCAGAGTTGGAGCCTATGACACTGATGACACTGGCATGGAAAGCCAAAGCCCT . 11BR013 ENSG00000142867.14 ENSG00000097096.9(48045),ENSG00000162642.14(892) -/- ./- chr1:85276195 chr1:85249061 intron intergenic deletion/read-through 4 16 0 19 22 medium out-of-frame . . . . ENSG00000142867.14 . ENST00000648566.1 . upstream downstream . ^(TGCCTGCGCCTGAGCCTCTACGAGAGGGAAGGAACGCTGCTCCGAGCTCCGCGTCGCGTCGCGTAGATTCGCGTCGCCGTCGACCTCAGAGGCGGGGCCGGAAGCGCTACGGTTTGACCCCCGAGTCCCTCTGTTCCCGAAGGGGCGGCCGTCTTTCTCCCGACCCGCTCCGCCTCCTCTCCTTCTTCCCCATTACCCGGAGGCCGAAGCCCCCAGCCAGGGCGGGGCGGCGCAGCCCGAGCTCCCGGACCCGGAAGAAGCGCCATCTCCCGCCTCCACCATGGAGCCCACCGCACCGTCCCTCACCGAGGAGGA)CCTCACTGAAGTGAAGAAGGACGTGAGTAACGCAGCTGTGCCCAGGGCGGGCGGGGGCGGGCTGCAGCCCAGCGGGAGACGAAAGCaGAAGCCTGGAGTCCGAGGACAAGGAGGATCCTCCAG|AAGTCAAGAATTGGGCTTTGGGAACCTCTGCCTAGATTTCAGAAGATGTATGGAAACAACTGGATTCCCAGGCAGAAGTTTGTTGCAGGGATGGGGACCCTCATGGAGAACCTCTGCTAGGGCAGTGCAGAAGGGAAATGTGGGGTTGAAACCCCCAGAGTCCCTGCTGTGGCACCACCTAGTGGAGCTGTAAGAAAAGGGCCACCATCCTCCAGACCCCAGAATGGTAGATCTACTTACAGCTTGCACCATGCGCCTGAAAAAGTCACTGACAGTGCCAGCCCATGAAGGCAGTGGGGATGGAGGCTGTACCCTGCAAAGCCACAGCGGCAGAGCTTCCCAAGACCATG MEPTAPSLTEEDLTEVKKDvsnaavpragggglqpsgrrkqkpgvrgqggssr|sqelgfgnlcldfrrcmettgfpgrsllqgwgpswrtsaravqkgnvglkppesllwhhlvel* 11BR013 ENSG00000185630.19 ENSG00000201987.1(30210),ENSG00000225487.2(36776) +/+ ./+ chr1:164821626 chr1:164884542 CDS/splice-site intergenic deletion/read-through 5 9 0 481 23 medium out-of-frame . Homeobox_domain(100%),PBC_domain(100%)| . . ENSG00000185630.19 . ENST00000420696.7 . downstream upstream mismappers(1) ^(AAACAAAAGCAGGAGGCTGACGGGGCTGCTGGAGTTTGCAGAGACACGGAGGAGGAGAGAGCCTGTGCTTTGCCTGCCGCCGCGGCTGGGGGAGATCTGGCTTTTGCAACAGCCCACCCCCTTTGAGATCACTCTGGCCCGGAGTGGGGGTGGGGGGCAGCGGGGGGTGGGGGGGGAAAGTTTGCATTGCAATCCCCCTGCCTTCCTCTCCTTTCTCCCGATCAATGCATATTTGCAAAAGGATTAAGCCACAGATTTAAGCGCCGGGAGCCCATTTCTGCCTTGCAAAGGAGACCGGACTGAAAAACCTAAAGCCAGCTCTGATTTCTTTTCGCCAAGTGGGAAGGTGGTTTATTTTTCTTGCTTTTTGGAGTCAACACCCTTCCCCACCAGCCCTTATCCCCACCCTCACCCCGCAACCCCTTCACGCCCCCTCCCCCTCCCCCTCCTCATCCTCCCACCATCCTCTAAAGAGGCAAAGGGATTTTTTTTTTCTTTTGGTCTTCTTTTTTCCCCCTTCCCTGTTTATCCTGAAAAGGATTTGAAGACAAGCTTGAAGGATAAAAAGCCTTGGTGCTTCCCAGGAGCCGAGCCGAGGAGCAGAAGAGGAAGAGCCGGGGGCTGCCGTAGCCTTTGGAGATGGACGAGCAGCCCAGGCTGATGCATTCCCATGCTGGGGTCGGGATGGCCGGACACCCCGGCCTGTCCCAGCACTTGCAGGATGGGGCCGGAGGGACCGAGGGGGAGGGCGGGAGGAAGCAGGACATTGGAGACATTTTACAGCAAATTATGACCATCACAGACCAGAGTTTGGATGAGGCGCAGGCCAG___AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTGTTGTGTGAAATCAAAGAAAAAACAG___TTTTGAGTATCCGAGGAGCCCAGGAGGAGGAACCCACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCTGAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGTTCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATCTACCATACGGAGCTGGAGAAATACGAGCAG___GCCTGCAACGAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATGGTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGCGAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG___GCGGAAGAGACGGAATTTCAACAAGCAAGCGACAGAAATCCTGAATGAATATTTCTATTCCCATCTCAGCAACCCTTACCCCAGTGAGGAAGCCAAAGAGGAGTTAGCCAAGAAGTGTGGCATCACAGTCTCCCAG___GTATCAAACTGGTTTGGAAATAAGCGAATCCGGTACAAGAAGAACATAGGTAAATTTCAAGAGGAAGCCAATATTTATGCTGCCAAAACAGCTGTCACTGCTACCAATGTGTCAGCCCATGGAAGCCAAGCTAACTCGCCCTCAACTCCCAACTCGGCTG___GTTCTTCCAGTTCTTTTAACATGTCAAACTCTGGAGATTTGTTCATGAGCGTGCAGTCACTCAATGGGGATTCTTACCAAGGGGCCCAGGTTGG)AGCCAACGTGCAATCACAG___GTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGT|GAAATTGCAAGAACCTATTGATGGCTTGGATGCTCTGGTGGTGACAGCAAGTCCTCTTCTCTTGACTGAAGAAATGTCTTCCCCTATCTGAAAAGTGGCCTCTCTTCCGGAATGACACATACTGACTTTTGAAGAAGCAAAAGGATACCTGCTGGCCAGTCATATCAGCCAAAAAACTCTGGTGAGCAGTGAGTTGGCAGATGTTGCAACTGGAAGACTGTGGCATCAACAGAGCCCCAAAGCAATAATCTCTCTTTCTCTTCGCCCCCACTAATCCAGCAATCAAATAATCACTTTTAAGCATTTACTGTGCACCACCATATAACATAAAATGTGATGAATAGCTAGG MDEQPRLMHSHAGVGMAGHPGLSQHLQDGAGGTEGEGGRKQDIGDILQQIMTITDQSLDEAQARKHALNCHRMKPALFNVLCEIKEKTVLSIRGAQEEEPTDPQLMRLDNMLLAEGVAGPEKGGGSAAAAAAAAASGGAGSDNSVEHSDYRAKLSQIRQIYHTELEKYEQACNEFTTHVMNLLREQSRTRPISPKEIERMVSIIHRKFSSIQMQLKQSTCEAVMILRSRFLDARRKRRNFNKQATEILNEYFYSHLSNPYPSEEAKEELAKKCGITVSQVSNWFGNKRIRYKKNIGKFQEEANIYAAKTAVTATNVSAHGSQANSPSTPNSAGSSSSFNMSNSGDLFMSVQSLNGDSYQGAQVGANVQSQVDTLRHVISQTGGYSDGLAASQMYSPQGIS|eiarty* 11BR013 ENSG00000171824.14 ENSG00000237429.1 -/- +/+ chr1:11084339 chr1:27530351 intron intron inversion 6 2 1 38 31 medium . . 3'-5'_exonuclease(100%),PMC2NT_(NUC016)_domain(100%)| . . ENSG00000171824.14 ENSG00000237429.1 . ENST00000443579.1 upstream upstream mismappers(10) AGTGAACAGGCAACCCACAAAATGGGAGAAAATCTTCGCAACCTACTCATCTGACAAAGGGCTAATTTGCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAATAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCACCATCACTGGCCATCAGAGAAATGCAAATCGAAACCACtGTGAGAT|GCCTCCCAGGTCAAGCGATTCTCCTGCCTCGGCCTCCCAAGGAACTGGAACCACAGGCGCGCGCCACTGCGCCCAAGGATTTTCACTTTTAACTGTACAGTGAAGCACAGACTTCTGAGCCAGACTGCTTGGTCTGAACTCTGGTGTCACCACTTAGTAAGTTCTGGTTTGAATGTACTCACTGAGTGGTCTTCATAAATTACCTCTCTGC$ . 11BR013 ENSG00000055070.17 ENSG00000238139.2(79973),ENSG00000242482.3(15412) +/+ ./+ chr1:16367308 chr1:67641419 CDS/splice-site intergenic deletion 0 9 0 79 24 medium out-of-frame . . . . ENSG00000055070.17 . ENST00000401089.3 . downstream upstream duplicates(1) ^(GGGGGTGGGGGAGGAGGGAAAGCGGCGA)GTAAGATGGAAGATGAGGAGGTCGCTGAGAGCTGGGAAGAGGCGGCAGACAGCGGG|GCTTCTCAATGACCCAGAAACGTTGATAGTATTACCCCAGGTGATATCAGGAG___...ATGAATGTCTATTGA...___CGCTTTCACTTCAGTGGATGATTCACAGGCCCAGCTGGTTTCGTGCGTG...___TGACTCTGTGCCACGCCCTGTGCTGGGGGCTGGGGATACAGACATGAAGCGCACAACATCCCCTTGTTGAAGAGTTCACAGCCTAGGGAAGAGAGCAAGCACTTTGCATACAGTTGGCAAGATGAGTGATGAGAGAGGAGTGTTCAACCTGGG MRRSLRAGKRRQTAg|llndpetlivlpqvisg 11BR013 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 3 5 0 1013 37 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___)ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAG(GACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 11BR013 ENSG00000203943.8 ENSG00000090686.16 +/+ -/- chr1:84298567 chr1:21753119 CDS/splice-site CDS/splice-site inversion 0 4 0 1 44 medium in-frame . |Ubiquitin_carboxyl-terminal_hydrolase(100%) . . ENSG00000203943.8 ENSG00000090686.16 ENST00000370673.7 ENST00000400301.5 downstream downstream duplicates(1) ^(CCTTGTCCTGCCCAGATCTTGTCCCTTCTAGTACTGGCCTTCCCCATTCCTGGGGGCCCCCGCCCCTCCGACCCCCGCCGACCGGCGCTGGACTACAACTCCCGGCGTGCCGCGCGCGTCCGGCCGGCTGCACCGGGGCTTTGCGCGTGGCGGCCGCCGAGCTCCG)CGCGGGGCAAACCTCCCGGCGCGGCCATGCGGGGAG|ATTATGAGCCTCAAACAATTTGTGAGCATCTCCAGTACTTGTTTGCCTTGTTGCAAAACAGTAATAGGCGATACATTGATCCATCAGGATTTGTTAAAGCCTTGGGCCTGGACACTGGACAACAGCAG___GATGCTCAAGAATTTTCAAAGCTCTTT(ATGTCTCTATTGGAAGATACTTTGTCTAAACAAAAGAATCCAGATGTGCGCAATATTGTTCAACAGCAGTTCTGTGGAGAATATGCCTATGTAACTGT___TTGCAACCAGTGTGGCAGAGAGTCTAAGCTTTTGTCAAAATTTTATGAGCTGGAGTTAAATATCCAAGGCCACAAACAGTTAACAGATTGTATCTCGGAATTTTTGAAG___GAAGAAAAATTAGAAGGAGACAATCGCTATTTTTGCGAGAACTGTCAAAGCAAACAGAATGCAACAAGAAAGATTCGACTTCTTAGCCTTCCTTGCACTCTGAACTTGCAGCTAATGCGTTTTGTCTTTGACAG___GCAAACTGGACATAAGAAAAAGCTGAATACCTACATTGGCTTCTCAGAAATTTTGGATATGGAGCCTTATGTGGAACATAAAG___GTGGGTCCTACGTGTATGAACTCAGCGCAGTCCTCATACACAGAGGAGTGAGTGCTTATTCTGGCCACTACATCGCCCACGTGAAAGATCCACAGTCTGGTGAATGGTATAAGTTTAATGATGAAGACATAGAAAAGATGGAGGGGAAGAAATTACAACTAGGGATTGAGGAAGATCTAG___CAGAACCTTCTAAGTCTCAGACACGTAAACCCAAGTGTGGCAAAGGAACTCATTGCTCTCGAAATGCATATATGTTGGTTTATAGACTGCAAACTCAAGAAAAGCCCAACACTACTGTTCAAGTTCCAG___CCTTTCTTCAAGAGCTGGTAGATCGGGATAATTCCAAATTTGAGGAGTGGTGTATTGAAATGGCTGAGATGCGTAAGCAAAGTGTGGATAAAGGAAAAGCAAAACACGAAGAGGTTAAGGAGCTGTACCAAAGGTTACCTGCTGGAGCTG___AGCCCTATGAGTTTGTCTCTCTGGAATGGCTGCAAAAGTGGTTGGATGAATCAACACCTACCAAACCTATTGATAATCACGCTTGCCTGTGTTCCCATGACAAGCTTCACCCGGATAAAATATCAATTATGAAGAGGATATCTGAATATGCAGCTGACATTTTCTATAGTAGATATGGAGGAGGTCCAAGACTAACTG___TGAAAGCCCTGTGTAAGGAATGTGTAGTAGAACGTTGTCGCATATTGCGTCTGAAGAACCAACTAAATGAAGATTATAAAACTGTTAATAATCTGCTGAAAGCAGCAGTAAAGGG___CAGCGATGGATTTTGGGTGGGGAAGTCCTCCTTGCGGAGTTGGCGCCAGCTAGCTCTTGAACAGCTGGATGAGCAAGATGGTGATGCAGAACAAAGCAACGGAAAGATGAACGGTAGCACCTTAAATAAAG___ATGAATCAAAGGAAGAAAGAAAAGAAGAGGAGGAATTAAATTTTAATGAAGATATTCTGTGTCCACATG___GTGAGTTATGCATATCTGAAAATGAAAGAAGGCTTGTTTCTAAAGAGGCTTGGAGCAAACTGCAGCAGTACTTTCCAAAGGCTCCTGAGTTTCCAAGTTACAAAGAGTGCTGTTCACAGTGCAAG___ATTTTAGAAAGAGAAGGGGAAGAAAATGAAGCCTTACATAAGATGATTGCAAACGAGCAAAAGACTTCTCTCCCAAATTTGTTCCAGGATAAAAACAGACCGTGTCTCAGTAACTGGCCAGAG___GATACGGATGTCCTCTACATCGTGTCTCAGTTCTTTGTAGAAGAGTGGCGGAAATTTGTTAG___AAAGCCTACAAGATGCAGCCCTGTGTCATCAGTTGGGAACAGTGCTCTTTTGTGTCCCCACGGGGGCCTCATGTTTACATTTGCTTCCATGACCAAAGAAGATTCTAAACT___TATAGCTCTCATATGGCCCAGTGAGTGGCAAATGATACAAAAGCTCTTTGTTGTGGATCATGTAATTAAAATCACGAGAATTGAAGTGGGAGATGTAAACCCTTCAGAAACACAGTATATTTCTGAGCCCA___AACTCTGTCCAGAATGCAGAGAAGGCTTATTGTGTCAGCAGCAGAGGGACCTGCGTGAATACACTCAAGCCACCATCTATGTCCATAAAGTTGTGGATAATAAAAAG___GTGATGAAGGATTCGGCTCCGGAACTGAATGTGAGTAGTTCTGAAACAGAGGAGGACAAGGAAGAAGCTAAACCAGATGGAGAAAAAGATCCAGATTTTAATCAA___ATCATGCATGCATTTTCAGTTGCTCCTTTTGACCAGAATTTGTCAATTGATGGAAAGATTTTAAGTGATGACTGTGCCACCCTAGGCACCCTTGGCGTCATTCCTGAATCTGTCATTTTATTGAAG___GCTGATGAACCAATTGCAGATTATGCTGCAATGGATGATGTCATGCAAG___TTTGTATGCCAGAAGAAGGGTTTAAAG___GTACTGGTCTTCTTGGACATTAATCTTTGAATACTTGCTGACTGCTAAGAAATGACCAGAGGGGAAGAGGAGTTTGACATGTTAGGGCATTAAAGCAAAGGTGGATTTAAGAATTAAACCATTACATGCCCCTTCCAAAAGGCAGAAATCCATTCAAACGTGACTGTCCCAAATGCCTTATGTCAAATAAAGCAGATTGCACTGATGGACATCAGACTTGAAGGAAATGTTTCCAATTTTATATTTAAGGGGGGTGGTGGGTGGGAGGGGGCAAGTAAAGACGGAACAAGTTTAGTAGCAGTAATAGTAAATCATGTTTACATATGAGATTTATAGTCGTGGGAGGGGAATAAAGTTCTGTTATATTTCCTTGCTCGAGTTTCATACCAGATGCGTTGGTCCATAAAGGATTGTATCAAGTAGATGGGACAACATTCTGCTCTGAACGAAAAGTAATTTTAGAGACATAACCTGCTTACCAATGCCTGTCTTTGATTCATATTCTACTTTCAATAAAGCATGAAAGTGAAGAACTTGTCCTAAGTGTGGAAAAGTGTCTTCAGATTTAGACTCTTCTCCATGTCAGCTGCAGCGCCACCCGCCTTACACCTGCCCGGCCGTCTGTCTCTTGGTATTGGGTAAAGGAGGGGGCACCTGCATGTCTCCTGCAATGAGCAAGGAATTATGTCTCATGTTTTGACTTCAGAGGCTTTTTGCTTTGGTGCATTTCAGAAAGGATGGAGAACATTTATTATGTGTGAAAGCATCCTCTTCCGGTTTTGCTGTTATTCAAAAGTGGGAAATGTACCTGGCACGTTTGAAAATAAAAAATCTGACTACCTATCAGAAGAGTAAATCAGACTGAAGTACATTTGGATAACACAAGGTTTCTATAAAATTTGTTCTTCCTGTCCTCCATGTCACTGTTTCTTGGACCTCAGTTCTCTTTTTGAAAGCATTATTCCAAAATGCCCTGAGAGGGTCTCTTAGATCATTGTTTAAAAAAGGAAAAAAGTATATGGATGTGCTGTCCATCCAACTCAGGATTATCATTCTTAGCAACACGTAACCGAAGCAATATTCTTAAGAATATTGAAGGGGTTTTTTTAATTGAACTTAAGACTGGAGTTTTTCCTTTGAAA)$ MRG|dYEPQTICEHLQYLFALLQNSNRRYIDPSGFVKALGLDTGQQQDAQEFSKLFMSLLEDTLSKQKNPDVRNIVQQQFCGEYAYVTVCNQCGRESKLLSKFYELELNIQGHKQLTDCISEFLKEEKLEGDNRYFCENCQSKQNATRKIRLLSLPCTLNLQLMRFVFDRQTGHKKKLNTYIGFSEILDMEPYVEHKGGSYVYELSAVLIHRGVSAYSGHYIAHVKDPQSGEWYKFNDEDIEKMEGKKLQLGIEEDLAEPSKSQTRKPKCGKGTHCSRNAYMLVYRLQTQEKPNTTVQVPAFLQELVDRDNSKFEEWCIEMAEMRKQSVDKGKAKHEEVKELYQRLPAGAEPYEFVSLEWLQKWLDESTPTKPIDNHACLCSHDKLHPDKISIMKRISEYAADIFYSRYGGGPRLTVKALCKECVVERCRILRLKNQLNEDYKTVNNLLKAAVKGSDGFWVGKSSLRSWRQLALEQLDEQDGDAEQSNGKMNGSTLNKDESKEERKEEEELNFNEDILCPHGELCISENERRLVSKEAWSKLQQYFPKAPEFPSYKECCSQCKILEREGEENEALHKMIANEQKTSLPNLFQDKNRPCLSNWPEDTDVLYIVSQFFVEEWRKFVRKPTRCSPVSSVGNSALLCPHGGLMFTFASMTKEDSKLIALIWPSEWQMIQKLFVVDHVIKITRIEVGDVNPSETQYISEPKLCPECREGLLCQQQRDLREYTQATIYVHKVVDNKKVMKDSAPELNVSSSETEEDKEEAKPDGEKDPDFNQIMHAFSVAPFDQNLSIDGKILSDDCATLGTLGVIPESVILLKADEPIADYAAMDDVMQVCMPEEGFKGTGLLGH* 11BR013 ENSG00000186635.14 ENSG00000168014.16 -/- -/+ chr11:72752328 chr11:74133762 5'UTR/splice-site intron inversion/5'-5' 0 4 0 25 11 medium . . . . . ENSG00000186635.14 ENSG00000168014.16 ENST00000393609.7 . upstream upstream . ^(AATTTGGCGGTGGCGG)TGTAAGTCGGTGGCGGCGCCGGTACGCCTGGTCCCCGCGTGGAGTCTTTACTCAAAACAG|ATGCTGGCATTGTAACAATGAATGAAGTCTCCATTCCGGAGACTCACCTCTTGTGGGGGTTGTTATATCCATATACTGGCTCTTCCAACTGGTGCTTGTACCTAATAAG___AGTGTAGTCCTTCTACTTATTAAAACAAAGTTAACTGTAC . 11BR013 ENSG00000197147.13 ENSG00000117154.12 +/+ +/+ chr1:89525022 chr1:18334892 5'UTR/splice-site CDS/splice-site duplication 0 2 0 4 14 medium . . |Immunoglobulin_V-set_domain(100%) . . ENSG00000197147.13 ENSG00000117154.12 ENST00000640258.1 ENST00000251296.4 downstream upstream . ^(ACAATGGAGCCGGTCGGAGGCGGCGAGCCGGACAGCGCCGGGGCTTCCCGCTGAGCCCGCAGCCTCCGGCAGCCGGGAAAGTGCGGGCGCGGGGCCGCAGCCTGCCCGCCCGGAGCGGCCCAGGAGCACGCCGCGGGGAGCG)CGGGCGTCCGGGGCTGGAGTCGCGCAG|GCTGCCCGAGGTCCGGATCTCAGACAATGGTCCCTATGAGTGCCATGTGGGCATCTACGACCGCGCCACCAGGGAGAAGGTGGTCCTGGCATCAGGCAACATCTTCCTCAACGTCATGG___CTCCTCCCACCTCCATTGAAGTGGTGGCTGCTGACACACCAGCCCCCTTCAGCCGCTAC(CAAGCCCAGAACTTCACGCTGGTCTGCATCGTGTCTGGAGGAAAACCAGCACCCATG___GTTTATTTCAAACGAGATGGGGAACCAATCGACGCAGTGCCCCTATCAGAGCCACCAGCTGCGAGCTCCGGCCCCCTACAGGACAGCAGGCCCTTCCGCAGCCTTCTGCACCGTGACCTGGATGACACCAAGATGCAGAAGTCACTGTCCCTCCTGGACGCCGAGAACCGGGGTGGGCGACCCTACACGGAGCGCCCCTCCCGTGGCCTGACCCCAGATCCCAACATCCTCCTCCAGCCAACCACAGAGAACATACCAGAGACGGTCGTGAGCCGTGAGTTTCCCCGCTGGGTCCACAGCGCCGAGCCCACCTACTTCCTGCGCCACAGCCGCACCCCGAGCAGTGACGGCACTGTGGAAGTACGTGCCCTGCTCACCTGGACCCTCAACCCACAGATCGACAACGAGGCCCTCTTCAGCTGCGAGGTCAAGCACCCAGCTCTGTCGATGCCCATGCAGGCAGAGGTCACGCTGG___TTGCCCCCAAAGGACCCAAAATTGTGATGACGCCCAGCAGAGCCCGGGTAGGGGACACAGTGAGGATTCTGGTCCATGGGTTTCAG___AACGAAGTCTTCCCGGAGCCCATGTTCACGTGGACGCGGGTTGGGAGCCGCCTCCTGGACGGCAGCGCTGAGTTCGACGGGAAGGAGCTGGTGCTGGAGCGGGTTCCCGCCGAGCTCAATGGCTCCATGTATCGCTGCACCGCCCAGAACCCACTGGGCTCCACCGACACGCACACCCGGCTCATCGTGTTTG___AAAACCCAAATATCCCAAGAGGAACGGAGGACTCTAATG___GTTCCATTGGCCCCACTGGTGCCCGGCTCACCTTGGTGCTCGCCCTGACAGTGATTCTGGAGCTGACGTGAAGGCACCCGCCCCGGCCACTCCATCAGGCACTGACATCTCCACGACCGGTTTTCATTTCTTTTCTAAACTATTTCCAGTCTTGTTCTTAGTCTCTTTCCATCTGTGTCTTGGCTTCTTCAGTCGGTTTAATTAAAACAAACAGAACAATTTTCCCCA)$ . 11BR013 ENSG00000189339.12 ENSG00000054523.17 -/- +/- chr1:1668327 chr1:10378766 CDS/splice-site 3'UTR duplication/5'-5' 1 1 0 67 21 medium out-of-frame . Triose-phosphate_Transporter_family(100%)| . . ENSG00000189339.12 ENSG00000054523.17 ENST00000614300.4 . upstream downstream . ^(TGGCTCTGGGGCACTGAGGAGCGGCGCCCGCGGGGCAGCGAGGAGCCCGATGCAGGGTTCTGCGCGTCATTTCCGGTCCCGCGGGCGCCCCGTGAAGCCCACCTGGATCCGCCAGCGCTGTGCCACTCCCCAGTGCCGAGCTCCGAGCTGTCTCCGCGGCCTCGCGCCCGGCCCCTCCACCGCGCGCCTCTCAGGCCCCGCCCGCCAGCGTCCCTTTGTTGTGAAGGCGCCGGGGCCTAGCGCTATGCCTGCGGCGGAGACTGCATCAGGCTCTCG___TCCTCGGGCTCCACCCGGGGAGCTGTGCCCAGACAGCAGAAGGGAAGGATGTCACTTCTGAGATGAGGTTCAGAAAGGTCTGGGCTCCTGTCCTGGCTGCTCTCTCCCACTCCCTGATGAGCTTGCTGGATGAAAGCTCCTGTCAGGCTGTGGGGCGTCCTGTGGAGAAGCTGGCAAGAAACTGGTGGGGGCCCTTTCCACCTATAGCCAGCAAGGAACTGAACCCAGCCAGCGTCCACCTGAGTGAGCTCAGAGGTGGGCCTCAGCCCCAGTTGAGCCTTCGGATGAGGTCACAGCCCTGGTCCATGGTGTGACTGCAGCTTCAGGAGGGACCTTAAGCCAGAGGTGCCTGGCTAAGCTTCCCGCAGATTGCTGCCCCACAGGAGCCAACATCAAAAGCATTTGTTGTTTTGAGGTG___CGTCTGCTTCTGCGCTTTGCCTGGGAGAGGCCCTGGTGGCCTCGTTCCTGGCGCCCGGAGTCCCTGCTGCGGCCCCACCCCCGGGCGGTCACGGTGACCCATGCTGCCCAGCCTGGAGGTAAAATCGTTCGTGGCTGTGGCTTCAGCATGTCGTCCTCGGTGAAAACCCCAGCACTGGAAGAGCTGGTTCCTGGCTCCGAAGAGAAGCCGAAAGGCAGGTCGCCTCTCAGCTGGGGCTCTCTGTTTGGTCACCGAAGTGAGAAGATTGTTTTTGCCAAGAGCGACGGCGGCACAGATGAGAACGTACTGACCGTCACCATCACGGAGACCACGGTCATCGAGTCAGACTTGGGTGTGTGGAGCTCGCGGGCGCTGCTCTACCTCACGCTGTGGTTCTTCTTCAGCTTCTGCACGCTCTTCCTCAACAAGTACATCCTGTCCCTGCTGGGAGGCGAGCCCAGCATGCTAG___GTGCGGTGCAGATGCTGTCCACCACGGTTATCGGGTGTGTGAAAACCCTCGTTCCTTGCTGTTTGTATCAGCACAAGGCCCGGCTTTCCTACCCACCCAACTTCCTTATGACGATGCTGTTTGTGGGTCTGATGAG___GTTTGCAACTGTGGTTTTGGGTTTGGTCAGCCTGAAAAATGTGGCGGTTTCGTTTGCTGAGACGGTGAAGAGCTCCGCCCCCATCTTCACGGTGATCATGTCTCGGATGATTCTGGGGGAGTACACAG___)GACGTCCCAGTGATCGGGAGGAGTGGGAAGAGCTTCAGCTACAACCAGGACGTGGTGCTGCTGCTTCTGACAGACGGAGTCCTGTTCCACCTTCAGAGCGTCACGGCGTACGCCCTCATGGGGAAAATCTCCCCGGTGACTTTCAG|TGATAAGGAGCGAAGCTGGGAGACCTGTTCTTCAGAGATGAGCCCAACCAGGAAGTGAGAAACAAGGTTGTGGATGATGACACAAGTCTCCCTAGCAACAACTCTGCAGAGGCGCGCAAGCCCC MSSSVKTPALEELVPGSEEKPKGRSPLSWGSLFGHRSEKIVFAKSDGGTDENVLTVTITETTVIESDLGVWSSRALLYLTLWFFFSFCTLFLNKYILSLLGGEPSMLGAVQMLSTTVIGCVKTLVPCCLYQHKARLSYPPNFLMTMLFVGLMRFATVVLGLVSLKNVAVSFAETVKSSAPIFTVIMSRMILGEYTGRPSDREEWEELQLQPGRGAAASDRRSPVPPSERHGVRPHGENLPGDFQ|* 11BR013 ENSG00000189339.12 ENSG00000117569.18 -/- +/- chr1:1692449 chr1:96818939 5'UTR/splice-site 3'UTR duplication/5'-5' 1 1 0 8 8 medium . . . . . ENSG00000189339.12 ENSG00000117569.18 ENST00000614300.4 . upstream downstream . ^(TGGCTCTGGGGCACTGAGGAGCGGCGCCCGCGGGGCAGCGAGGAGCCCGATGCAGGGTTCTGCGCGTCATTTCCGGTCCCGCGGGCGCCCCGTGAAGCCCACCTGGATCCGCCAGCGCTGTGCCACTCCCCAGTGCCGA)GCTCCGAGCTGTCTCCGCGGCCTCGCGCCCGGCCCCTCCACCGCGCGCCTCTCAGGCCCCGCCCGCCAGCGTCCCTTTGTTGTGAAGGCGCCGGGGCCTAGCGCTATGCCTGCGGCGGAGACTGCATCAGGCTCTCG|TATTATACATTGAAGACTGGATTGGAAAGCCAGGGACTTGGATTCTAACTACAG___AGAATAAACATGAATTCAGAAGCACAG . 11BR013 ENSG00000199959.1(11453),ENSG00000203943.8(9456) ENSG00000090686.16 ./+ -/- chr1:84288910 chr1:21753119 intergenic CDS/splice-site inversion 1 1 0 2 44 medium . . |Ubiquitin_carboxyl-terminal_hydrolase(100%) . . . ENSG00000090686.16 . ENST00000400301.5 downstream downstream . TGGAGAAGCCCATGTGACAAAAACTGAGGACTTCAGTTGAGCAGCCCATAAGGAACCAAATCCTGCCTCCAACCATATAG|ATTATGAGCCTCAAACAATTTGTGAGCATCTCCAGTACTTGTTTGCCTTGTTGCAAAACAGTAATAGGCGATACATTGATCCATCAGGATTTGTTAAAGCCTTGGGCCTGGACACTGGACAACAGCAG___GATGCTCAAGAATTTTCAAAGCTC(TTTATGTCTCTATTGGAAGATACTTTGTCTAAACAAAAGAATCCAGATGTGCGCAATATTGTTCAACAGCAGTTCTGTGGAGAATATGCCTATGTAACTGT___TTGCAACCAGTGTGGCAGAGAGTCTAAGCTTTTGTCAAAATTTTATGAGCTGGAGTTAAATATCCAAGGCCACAAACAGTTAACAGATTGTATCTCGGAATTTTTGAAG___GAAGAAAAATTAGAAGGAGACAATCGCTATTTTTGCGAGAACTGTCAAAGCAAACAGAATGCAACAAGAAAGATTCGACTTCTTAGCCTTCCTTGCACTCTGAACTTGCAGCTAATGCGTTTTGTCTTTGACAG___GCAAACTGGACATAAGAAAAAGCTGAATACCTACATTGGCTTCTCAGAAATTTTGGATATGGAGCCTTATGTGGAACATAAAG___GTGGGTCCTACGTGTATGAACTCAGCGCAGTCCTCATACACAGAGGAGTGAGTGCTTATTCTGGCCACTACATCGCCCACGTGAAAGATCCACAGTCTGGTGAATGGTATAAGTTTAATGATGAAGACATAGAAAAGATGGAGGGGAAGAAATTACAACTAGGGATTGAGGAAGATCTAG___CAGAACCTTCTAAGTCTCAGACACGTAAACCCAAGTGTGGCAAAGGAACTCATTGCTCTCGAAATGCATATATGTTGGTTTATAGACTGCAAACTCAAGAAAAGCCCAACACTACTGTTCAAGTTCCAG___CCTTTCTTCAAGAGCTGGTAGATCGGGATAATTCCAAATTTGAGGAGTGGTGTATTGAAATGGCTGAGATGCGTAAGCAAAGTGTGGATAAAGGAAAAGCAAAACACGAAGAGGTTAAGGAGCTGTACCAAAGGTTACCTGCTGGAGCTG___AGCCCTATGAGTTTGTCTCTCTGGAATGGCTGCAAAAGTGGTTGGATGAATCAACACCTACCAAACCTATTGATAATCACGCTTGCCTGTGTTCCCATGACAAGCTTCACCCGGATAAAATATCAATTATGAAGAGGATATCTGAATATGCAGCTGACATTTTCTATAGTAGATATGGAGGAGGTCCAAGACTAACTG___TGAAAGCCCTGTGTAAGGAATGTGTAGTAGAACGTTGTCGCATATTGCGTCTGAAGAACCAACTAAATGAAGATTATAAAACTGTTAATAATCTGCTGAAAGCAGCAGTAAAGGG___CAGCGATGGATTTTGGGTGGGGAAGTCCTCCTTGCGGAGTTGGCGCCAGCTAGCTCTTGAACAGCTGGATGAGCAAGATGGTGATGCAGAACAAAGCAACGGAAAGATGAACGGTAGCACCTTAAATAAAG___ATGAATCAAAGGAAGAAAGAAAAGAAGAGGAGGAATTAAATTTTAATGAAGATATTCTGTGTCCACATG___GTGAGTTATGCATATCTGAAAATGAAAGAAGGCTTGTTTCTAAAGAGGCTTGGAGCAAACTGCAGCAGTACTTTCCAAAGGCTCCTGAGTTTCCAAGTTACAAAGAGTGCTGTTCACAGTGCAAG___ATTTTAGAAAGAGAAGGGGAAGAAAATGAAGCCTTACATAAGATGATTGCAAACGAGCAAAAGACTTCTCTCCCAAATTTGTTCCAGGATAAAAACAGACCGTGTCTCAGTAACTGGCCAGAG___GATACGGATGTCCTCTACATCGTGTCTCAGTTCTTTGTAGAAGAGTGGCGGAAATTTGTTAG___AAAGCCTACAAGATGCAGCCCTGTGTCATCAGTTGGGAACAGTGCTCTTTTGTGTCCCCACGGGGGCCTCATGTTTACATTTGCTTCCATGACCAAAGAAGATTCTAAACT___TATAGCTCTCATATGGCCCAGTGAGTGGCAAATGATACAAAAGCTCTTTGTTGTGGATCATGTAATTAAAATCACGAGAATTGAAGTGGGAGATGTAAACCCTTCAGAAACACAGTATATTTCTGAGCCCA___AACTCTGTCCAGAATGCAGAGAAGGCTTATTGTGTCAGCAGCAGAGGGACCTGCGTGAATACACTCAAGCCACCATCTATGTCCATAAAGTTGTGGATAATAAAAAG___GTGATGAAGGATTCGGCTCCGGAACTGAATGTGAGTAGTTCTGAAACAGAGGAGGACAAGGAAGAAGCTAAACCAGATGGAGAAAAAGATCCAGATTTTAATCAA___ATCATGCATGCATTTTCAGTTGCTCCTTTTGACCAGAATTTGTCAATTGATGGAAAGATTTTAAGTGATGACTGTGCCACCCTAGGCACCCTTGGCGTCATTCCTGAATCTGTCATTTTATTGAAG___GCTGATGAACCAATTGCAGATTATGCTGCAATGGATGATGTCATGCAAG___TTTGTATGCCAGAAGAAGGGTTTAAAG___GTACTGGTCTTCTTGGACATTAATCTTTGAATACTTGCTGACTGCTAAGAAATGACCAGAGGGGAAGAGGAGTTTGACATGTTAGGGCATTAAAGCAAAGGTGGATTTAAGAATTAAACCATTACATGCCCCTTCCAAAAGGCAGAAATCCATTCAAACGTGACTGTCCCAAATGCCTTATGTCAAATAAAGCAGATTGCACTGATGGACATCAGACTTGAAGGAAATGTTTCCAATTTTATATTTAAGGGGGGTGGTGGGTGGGAGGGGGCAAGTAAAGACGGAACAAGTTTAGTAGCAGTAATAGTAAATCATGTTTACATATGAGATTTATAGTCGTGGGAGGGGAATAAAGTTCTGTTATATTTCCTTGCTCGAGTTTCATACCAGATGCGTTGGTCCATAAAGGATTGTATCAAGTAGATGGGACAACATTCTGCTCTGAACGAAAAGTAATTTTAGAGACATAACCTGCTTACCAATGCCTGTCTTTGATTCATATTCTACTTTCAATAAAGCATGAAAGTGAAGAACTTGTCCTAAGTGTGGAAAAGTGTCTTCAGATTTAGACTCTTCTCCATGTCAGCTGCAGCGCCACCCGCCTTACACCTGCCCGGCCGTCTGTCTCTTGGTATTGGGTAAAGGAGGGGGCACCTGCATGTCTCCTGCAATGAGCAAGGAATTATGTCTCATGTTTTGACTTCAGAGGCTTTTTGCTTTGGTGCATTTCAGAAAGGATGGAGAACATTTATTATGTGTGAAAGCATCCTCTTCCGGTTTTGCTGTTATTCAAAAGTGGGAAATGTACCTGGCACGTTTGAAAATAAAAAATCTGACTACCTATCAGAAGAGTAAATCAGACTGAAGTACATTTGGATAACACAAGGTTTCTATAAAATTTGTTCTTCCTGTCCTCCATGTCACTGTTTCTTGGACCTCAGTTCTCTTTTTGAAAGCATTATTCCAAAATGCCCTGAGAGGGTCTCTTAGATCATTGTTTAAAAAAGGAAAAAAGTATATGGATGTGCTGTCCATCCAACTCAGGATTATCATTCTTAGCAACACGTAACCGAAGCAATATTCTTAAGAATATTGAAGGGGTTTTTTTAATTGAACTTAAGACTGGAGTTTTTCCTTTGAAA)$ . 11BR014 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 18 7 0 134 52 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACAT)CAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR014 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 11 13 0 50 26 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(2) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATT)GCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTGGTGAGGCAGAGCATATGGAAAATG___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATGGCCACTCAGACTCCTGCTGGAT MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvgeaehmendsrplpdvaltgkctrecdeyghsdscw 11BR014 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 4 18 0 31 88 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(3),mismappers(2),mismatches(2) GGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCC(AGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR014 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 12 0 53 29 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGA)ACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR014 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 6 0 18 23 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1),mismatches(1) GGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTAC(AGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR014 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 2 9 0 12 14 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCC(GTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11BR014 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 5 12 0 17 1311 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream . ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGC)AGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTG(ACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 11BR014 ENSG00000261349.1(604),ENSG00000187010.21(4699) ENSG00000117616.18 ./- -/- chr1:25267740 chr1:25247029 intergenic 5'UTR/splice-site deletion/read-through 8 5 0 35 220 medium . . |Arginine/Serine-Rich_protein_1(100%) . . . ENSG00000117616.18 . ENST00000243189.12 upstream downstream mismatches(1) GCGCTGGGTTCAGGGGCTTTCCGCCGCTCTGGGTTCACAGCTGGACGTCGGGAGTGCTAGTTTGGAGTACGCCATTTGAGAGTAGGCGTGAGAAGTTGCTCTGTGTGCTGAGCGTTCTAAAGGAAGcCGTCCGTTGGCCTTCGTACCCGTCTTGATTGAG|GAAGTCCTGAGTTGAGGCTTGCGGGATCCTTTCCGGAGAAAGCGCAGGCTAAAGCCGCAGGTGAAGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCCGCAGGAGAAGGATTCGCC(CTCGACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATTCCCGCGTCTCGAGCCGGTTTTCGTCCAGGAGTCGGAGGAGCAAGTCCAGGTCCCGTTCCCGAAGGCGCCACCAGCGGAAGTACAGGCGCTACTCGCGGTCATACTCGCGGAGCCGGTCGCGATCCCGCAGCCGCCGTTACCGAGAGAGGCGCTACGGGTTCACCAGGAGATACTACCGGTCTCCTTCGCGGTACCGGTCCCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTGTACCCGGAGGAGCACAGCAGATGGAGGGACAGATCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAG___ATCGAATGGAGCTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAGGAACAACCAACATTGACTTGCCAGCTAGTCTCAGAACTGTTCCTTCAGCCAAAGAAACAAGCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAA___CTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATGAAAAACCTACCCAGCAAAGAAGCATAGCTTTTAGCTCTAAT___AATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCAAGATCACCAAAAATAGATCAGAAAAAAAGTCCATATGGACTGTGGATACCTATCTAAAAGAAGAAAACTGATGGCTAAGTTTGCATGAAAACTGCACTTTATTGCAAGTTAGTGTTTCTAGCATTATCCCATCCCTTTGAGCCATTCAGGGGTACTTGTGCATTTAAAAACCAACACAAAAAGATGTAAATACTTAACACTCAAATATTAACATTTTAGGTTTCTCTTGCAGATATGAGAGATAGCACAGATGGACCAAAGGTTATGCACAGGTGGGAGTCTTTTGTATATAGTTGTAAATATTGTCTTGGTTATGTAAAAATGAAATTTTTTAGACACAGTAATTGAACTGTATTCCTGTTTTGTATATTTAATAAATTTCTTGTTTTCATTCTTA)$ . 11BR014 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 3 8 0 22 1273 medium . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000369458.8 upstream downstream duplicates(1),low_entropy(1) GTAGCAAAGTACAATCCTCCCGAGACCTTAGGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG___GGAGACACTCCATCACAGTCACTACTGTCGCCTCAGCTGGGAACATTGGGGAGGATGGAATCCTGAGCTGCACTTTTGAACCTGACATCAAACTTTCTGATATCGTGATACAATGGCTGAAGGAAGG(TGTTTTAGGCTTGGTCCATGAGTTCAAAGAAGGCAAAGATGAGCTGTCGGAGCAGGATGAAATGTTCAGAGGCCGGACAGCAGTGTTTGCTGATCAAGTGATAGTTGGCAATGCCTCTTTGCGGCTGAAAAACGTGCAACTCACAGATGCTGGCACCTACAAATGTTATATCATCACTTCTAAAGGCAAGGGGAATGCTAACCTTGAGTATAAAACTGGAG___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACCA)$ . 11BR014 ENSG00000207304.1 ENSG00000143384.13(20201),ENSG00000253047.1(600) -/- ./- chr11:93732244 chr1:150599939 exon intergenic translocation 2 1 0 149 32 medium . . . . . ENSG00000207304.1 . ENST00000384574.1 . upstream downstream . ATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCACCTACAGTAAAAAG|GACCCTAAAGTAAATTGGTTGAAGAAATTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCAtATTAAAAcGAGAtGACAG-AAGCCAAAGTAATTATGGGCTGACAGGACAACTGGATCAG . 11BR015 ENSG00000173335.5 ENSG00000101435.5 -/- -/- chr20:23603621 chr20:23565037 CDS CDS/splice-site deletion/read-through 42 20 3 1063 209 high in-frame . . . . ENSG00000173335.5 ENSG00000101435.5 ENST00000376971.4 ENST00000376979.4 upstream downstream duplicates(4),mismappers(1),mismatches(10) ^(AGTGGACGCCAGGGATCTGAAGGGCAAAGGCAAGGGCTGCTGGAGCCTGCATCATGTCGAGTCCGCAGAGGAGGAAGGCTATGCCCTGGGCACTGTCACTGCTTCTCATGGGCTTCCAGCTCCTGGTGACTTATGCCTGGTGTTCTG)AAGAGGAAATGGGTGGTAATAATAAAATAGTCCAGGATCCTATGTTCtTCGCCACAGTGGAGTTTGCCTTGAACACTTTCAACGTGCAGAGCAAGGAGGAGCATGCCTACAGGCTGTTGCGCGTCCTGAGTTCATGGAGGGAGGATAGCATGGACAGAAAG___TGGCGAGGTAAGATGGTGTTCTCCATGAATCTGCAACTGCGCCAAACCGTATGTAGGAAATTTGAAGATGACATTGACAACTGCCCTTTTCAAGAAAGCCTGGAGCTGAAC?AC|ACTTTCACCTGCTTCTTCACCATCAGCACCAGGCCCTGGATGACTCAGTTCAGCCTCCTGAACAAGACCTGCTTGGAGGGATTCCACTGAGTGAAACCCACTCACAGGCTTGTCCATGTGCTGCTCCCACATTCCGTGGACATCAGCACTACTCTCCTGAGGACTCTTCAGTGGCTGAGCAGCTTTGGACTTGTTTGTTATCCTATTTTGCATGTG(TTTGAGATCTCAGATCAGTGTTTTAGAAAATCCACACATCTTGAGCCTAATCATGTAGTGTAGATCATTAAACATCAGCATTTTAAGAAA)$ MSSPQRRKAMPWALSLLLMGFQLLVTYAWCSEEEMGGNNKIVQDPMFfATVEFALNTFNVQSKEEHAYRLLRVLSSWREDSMDRKWRGKMVFSMNLQLRQTVCRKFEDDIDNCPFQESLELN?|TFTCFFTISTRPWMTQFSLLNKTCLEGFH* 11BR015 ENSG00000173335.5 ENSG00000101435.5 -/- -/- chr20:23605610 chr20:23566087 CDS/splice-site CDS/splice-site deletion/read-through 2 3 3 1155 72 medium in-frame . . . . ENSG00000173335.5 ENSG00000101435.5 ENST00000376971.4 ENST00000376979.4 upstream downstream . ^(AGTGGACGC)CAGGGATCTGAAGGGCAAAGGCAAGGGCTGCTGGAGCCTGCATCATGTCGAGTCCGCAGAGGAGGAAGGCTATGCCCTGGGCACTGTCACTGCTTCTCATGGGCTTCCAGCTCCTGGTGACTTATGCCTGGTGTTCTGAAGAGGAAATGGGTGGTAATAATAAAATAGTCCAGGATCCTATGTTCtTCGCCACAGTGGAGTTTGCCTTGAACACTTTCAACGTGCAGAGCAAGGAGGAGCATGCCT?CAGGCTGTTGCGCGTCCTGAGTTCATGGAGGGAGGATAGCATGGACAGAAAG|GTGGAGTCCAAGACTGTATTCTCAATGGAGCTACTGCTGGGGAGAACTAGGTGTGGGAAATTTGAAGACGACATTGACAACTGCCcTTTCCAAGAAAGCACAGAGCTGAACAAT___ACTTTCACCTGCTTCTTCACCATCAGCACCAGGCCCTGGATGACTCAGTTCAGCCTCCTGAACAAGACCTGCTTGGAGGGATTCCACTGAGTGAAACCCACTCACAGGCTTGTCCATGTGCTGCTCCCACATTCCGTGaAC(ATCAGCACTACTCTCCTGAGGACTCTTCAGTGGCTGAGCAGCTTTGGACTTGTTTGTTATCCTATTTTGCATGTGTTTGAGATCTCAGATCAGTGTTTTAGAAAATCCACACATCTTGAGCCTAATCATGTAGTGTAGATCATTAAACATCAGCATTTTAAGAAA)$ MSSPQRRKAMPWALSLLLMGFQLLVTYAWCSEEEMGGNNKIVQDPMFfATVEFALNTFNVQSKEEHA?RLLRVLSSWREDSMDRK|VESKTVFSMELLLGRTRCGKFEDDIDNCpFQESTELNNTFTCFFTISTRPWMTQFSLLNKTCLEGFH* 11BR015 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 21 33 0 120 83 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(3),low_entropy(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGG)CCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR015 ENSG00000168615.12 ENSG00000254111.3(16264),ENSG00000254290.1(15583) +/+ ./+ chr8:39071403 chr8:37581897 CDS/splice-site intergenic duplication 11 20 4 460 74 high out-of-frame . ADAM_cysteine-rich(100%),Disintegrin(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%)| . . ENSG00000168615.12 . ENST00000487273.7 . downstream upstream . ^(AGACTTGGGGCCCCGGCAGGGTTGGAAAATGATGGAAGAGGCGGAGGTGGAGGCGACCGAGTGCTGAGAGGAACCTGCGGAATCGGCCGAGATGGGGTCTGGCGCGCGCTTTCCCTCGGGGACCCTTCGTGTCCGGTGGTTGCTGTTGCTTGGCCTGGTGGGCCCAGTCCTCGGTGCGGCGCGGCCAG___GCTTTCAACAGACCTCACATCTTTCTTCTTATGAAATTATAACTCCTTGGAGATTAACTAGAGAAAGAAGAGAAGCCCCTAGGCCCTATTCAAAACAA___GTATCTTATGTTATTCAGGCTGAAGGAAAAGAGCATATTATTCACTTGGAAAGGAACAA___AGACCTTTTGCCTGAAGATTTTGTGGTTTATACTTACAACAAGGAAGGGACTTTAATCACTGACCATCCCAATATACAG___AATCATTGTCATTATCGGGGCTATGTGGAGGGAGTTCATAATTCATCCATTGCTCTTAGCGACTGTTTTGGACTCAG___AGGATTGCTGCATTTAGAGAATGCGAGTTATGGGATTGAACCCCTGCAGAACAGCTCTCATTTTGAGCACATCATTTATCGAATGGATGATGTCTACAAAGAGCCTCTGAAATGTGGAGTTTCCAACAAGGATATAGAGAAAGAAACTGCAAAGGATGAAGAGGAAGAGCCTCCCAGCATGACTCAGCTACTTCGA___AGAAGAAGAGCTGTCTTGCCACAGACCCGGTATGTGGAGCTGTTCATTGTCGTAGACAAGGAAAGG___TATGACATGATGGGAAGAAATCAGACTGCTGTGAGAGAAGAGATGATTCTCCTGGCAAACTACTTGGATAGT___ATGTATATTATGTTAAATATTCGAATTGTGCTAGTTGGACTGGAGATTTGGACCAATGGAAACCTGATCAACATAGTTGGGGGTGCTGGTGATGTGCTGGGGAACTTCGTGCAGTGGCGGGAAAAGTTTCTTATCACACGTCGGAGACATGACAGTGCACAGCTAGTTCT___AAAGAAAGGTTTTGGTGGAACTGCAGGAATGGCATTTGTGGGAACAGTGTGTTCAAGGAGCCACGCAGGCGGGATTAATGTG___TTTGGACAAATCACTGTGGAGACATTTGCTTCCATTGTTGCTCATGAATTGGGTCATAATCTTGGAATGAATCACGATGATGGGAGAGATTGTTCCTGTGGAGCAAAGAGCTGCATCATGAATTCAGGAGCATC___GGGTTCCAGAAACTTTAGCAGTTGCAGTGCAGAGGACTTTGAGAAGTTAACTTTAAATAAAGGAGGAAACTGCCTTCTTAATATTCCAAAGCCTGATGAAGCCTATAGTGCTCCCTCCTGTGGTAATAAGTTGGTGGACGCTGGGGAAGAGTGTGACTGTGGTACTCCAAAG___GAATGTGAATTGGACCCTTGCTGCGAAGGAAGTACCTGTAAGCTTAAATCATTTGCTGAGTGTGCATATGGTGACTGTTGTAAAGACTGTCGG___TTCCTTCCAGGAGGTACTTTATGC)CGAGGAAAAACCAGTGAGTGTGATGTTCCAGAGTACTGCAATGGTTCTTCTCAGTTCTGTCAGCCAGATGTTTTTATTCAGAATGGATATCCTTGCCAGAATAACAAAGCCTATTGCTACAACGGCATGTGCCAGTATTATGATGCTCAATGTCAAGTCATCTTTGGCTCAA___AAGCCAAGGCTGCCCCCAAAGATTGTTTCATTGAAGTGAATTCTAAAGGTGACAGATTTGGCAATTGTGGTTTCTCTGGCAATGAATACAAGAAGTGTGCCACTGG|AAACAGCGCCTGTGCCTCCACGTCTCCGTTACACATATCGATTCTGACAGCTCAAATTAATATGTCAGATGCTGTGATCCTCGCTGGCGACAGGCCTTTTGACCCTATCAGTGCAATCTGCTTCCCTGATTGAAAATCTCTGCACCTCAAATTGATTCAGAGTTTTATAAACATCCTGCAGCCACAATTCAAGGAAGCCATCAATGAAAAACTTAGGAGA MGSGARFPSGTLRVRWLLLLGLVGPVLGAARPGFQQTSHLSSYEIITPWRLTRERREAPRPYSKQVSYVIQAEGKEHIIHLERNKDLLPEDFVVYTYNKEGTLITDHPNIQNHCHYRGYVEGVHNSSIALSDCFGLRGLLHLENASYGIEPLQNSSHFEHIIYRMDDVYKEPLKCGVSNKDIEKETAKDEEEEPPSMTQLLRRRRAVLPQTRYVELFIVVDKERYDMMGRNQTAVREEMILLANYLDSMYIMLNIRIVLVGLEIWTNGNLINIVGGAGDVLGNFVQWREKFLITRRRHDSAQLVLKKGFGGTAGMAFVGTVCSRSHAGGINVFGQITVETFASIVAHELGHNLGMNHDDGRDCSCGAKSCIMNSGASGSRNFSSCSAEDFEKLTLNKGGNCLLNIPKPDEAYSAPSCGNKLVDAGEECDCGTPKECELDPCCEGSTCKLKSFAECAYGDCCKDCRFLPGGTLCRGKTSECDVPEYCNGSSQFCQPDVFIQNGYPCQNNKAYCYNGMCQYYDAQCQVIFGSKAKAAPKDCFIEVNSKGDRFGNCGFSGNEYKKCATg|nsacastsplhisiltaqinmsdavilagdrpfdpisaicfpd* 11BR015 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 16 0 31 29 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismatches(1) CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCAT(ATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR015 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 17 10 0 161 74 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCA)GAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR015 ENSG00000122912.15 ENSG00000138346.15 -/- -/- chr10:68516751 chr10:68450247 CDS/splice-site CDS/splice-site deletion/read-through 10 10 0 43 39 high out-of-frame . Mitochondrial_carrier_protein(100%)|AAA_domain(100%),DNA_replication_factor_Dna2(100%) . . ENSG00000122912.15 ENSG00000138346.15 ENST00000609923.6 ENST00000358410.8 upstream downstream mismappers(1),mismatches(1) ^(GTACGCCATCAGCCGGCGCCGCGCCGCCGGGTGTTACTTTGCCCCGCCGGCGGGGCGGTCAGCCTCCTGTCACCGCCTGTTCCGGCTATGGTCCCGTCCGGTGTTCTGTAAGTTGGCAACCTAGGCTCCTGACGCGACCCTGGTCCTGATGGCGGCGGCGACGGCCGCGGCAGCCCTGGCGGCGGCCGATCCCCCTCCCGCAATGCCGCAGGCGGCAGGGGCCGGAGGGCCCACAACCCGCAGAGACTTCTACTGGCTGCGCTCCTTTCTGGCCGGAG___)GTATTGCTGGATGCTGTGCCAAAACAACAGTTGCTCCATTGGATCGAGTAAAGGTTTTATTACAAGCTCACAATCACCATTACAAGCATTTAG|GCCAAGTGATAATAGTAAGGATAATTCAACATGTAACATTGAAGTCGTGAAACCAATGGATATTGAAGAAAGCATTTGGTCCCCTAGGTTTGGATTGAAAGGCAAAATAGATGTTACAGTTGGTGTGAAAATACATCGAGGGTATAAAACAAAATACAAGATAATGCCGCTGGAACTTAAAACTGGCAAAGAATCAAATTCTATTGAACACCGTAGTCAG___GTTGTTCTGTACACTCTACTAAGCCAAGAGAGAAGAGCTGATCCAGAGGCTGGCTTGCTTCTCTACCTCAAGACTGGTCAGATGTACCCTGTGCCTGCCAACCATCTAGATAAAAGAG___AATTATTAAAGCTAAGAAACC(AGATGGCATTCTCATTGTTTCACCGTATTAGCAAATCTGCTACTAGACAGAAGACACAGCTTGCTTCTTTGCCACAAATAATTGAGGAAGAGAAAACTTGTAAATATTGTTCACAAATTGGCAATTGTGCTCTTTATAGCAG___AGCAGTTGAACAACAGATGGATTGTAGTTCAGTCCCAATTGTGATGCTGCCCAAAATAGAAGAAGAAACCCAGCATCTGAAGCAAACACACTTAGAATATTTCAGCCTTTGGTGTCTAATGTTAACCCTGGAGTCACAATCGAAGGATAATAAAAAGAATCACCAAAATATCTGGCTAATGCCTGCTTCGGAAAT___GGAGAAGAGTGGCAGTTGCATTGGAAACCTGATTAGAATGGAACATGTAAAGATAGTTTGTGATGGGCAATATTTACATAATTTCCAATGTAAACATGGTGCCATACCTGTCACAAATCTAATGGCAGGTGACAGAGTTATTGTAAGTGGAGAAGAAAGGTCACTGTTTGCTTTGTCTAGAGGATATGTGAAGGAGATTAACATGACAACAGTAACTTGTTTATTAGACAG___AAACTTGTCGGTCCTTCCAGAATCAACTTTGTTCAGATTAGACCAAGAAGAAAAAAATTGTGATATAGATACCCCATTAGGAAATCTTTCCAAATTGATGGAAAACACGTTTGTCAG___CAAAAAACTTCGAGATTTAATTATTGACTTTCGTGAACCTCAGTTTATATCCTACCTTAGTTCTGTTCTTCCACATGATGCAAAGGATACAGTTGCCTGCATTCTAAAGG___GTTTGAATAAGCCTCAGAGGCAAGCGATGAAAAAGGTACTTCTTTCAAAAGACTACACACTCATCGTGGGTATGCCTGGGACAGGAAAAACAACTACGATATGTACTCTC___GTAAGAATTCTCTACGCCTGTGGTTTTAGCGTTTTGTTGACCAGCTATACACACTCTGCTGTTGACAATATTCTTTTGAAGTTAGCCAAGTTTAAAATAGGATTTTTGCGTTTGGGTCAGATTCAGAAGGTTCATCCAGCTATCCAGCAATTTACAGAGCAAGAAATTTGCAGATCAAAGTCCATTAAATCCTTAGCTCTTCTAGAAGAACTCTACAATAGTCAA___CTTATAGTTGCAACAACATGTATGGGAATAAACCATCCAATATTTTCCCGTAAAATTTTTGATTTTTGTATTGTGGATGAAGCCTCTCAAATTAGCCAACCAATTTGTCTGGGCCCCCTTTTTTTTTCACGGAGATTTGTGTTAGTGGGGGACCATCAGCAGCTTCCTCCCCTGGTGCTAAACCGTGAAGCAAG___AGCTCTTGGCATGAGTGAAAGCTTATTCAAGAGGCTGGAGCAGAATAAGAGTGCTGTTGTACAGTTAACCGTGCAGTACAGAATGAACAG___TAAAATTATGTCCTTAAGTAATAAGCTGACCTATGAGGGCAAGCTGGAGTGTGGATCAGACAAAGTGGCCAATGCAGTGATAAACCTACGTCACTTTAAAGATGTGAAGCTGGAACTGGAATTTTATGCTGACTATTCTGATAATCCTTGGTTGATGGGAGTATTTGAACCCAACAATCCTGTTTGTTTCCTTAATACAGACAAG___GTTCCAGCGCCAGAACAAGTTGAAAAAGGTGGTGTGAGCAATGTAACAGAAGCCAAACTCATAGTTTTCCTAACCTCCATTTTTGTTAAG___GCTGGATGCAGTCCCTCTGATATTGGTATTATTGCACCGTACAGGCAGCAATTAAAGATCATCAATGATTTATTGGCACGTTCTATTGGGATGGTCGAAGTTAATACAGTAGACAAATACCAAGGAAGGGACAAAAGTATTGTCCTAGTATCTTTTGTTAGAAGTAATAAGGATGGAACT___GTTGGTGAACTCTTGAAAGATTGGCGACGTCTTAATGTTGCTATAACCAGAGCCAAACATAAACTGATTCTTCTGGGGTGTGTGCCCTCACTAAATTGCTATCCTCCTTTGGAGAAGCTGCTTAATCATTTAAACTCAGAAAAATTA___ATCATTGATCTTCCATCAAGAGAACATGAAAGTCTTTGCCACATATTGGGTGACTTTCAAAGAGAATAAAACACTATTTCCCTTGCCTTTTCATACTAGGGCAGTATCTCCTCTAGCTAGTGCCCATACAGAAAATTCTATCACCATACAAAATTTAATGCAGTATTTATGTTTTAAAGCACAGGTGTACCGAAAACTGTGAAAAGTCTGAATTTATGGGTTCTATGCATGCATTTTTGCCTAACCTAGAGAAAGAGTTTGATAAATTTTTACCAGCTTTGAAGATGGATTAACTTTTGACTTTGAGCTTTAAACTTTTAAGTCAGACATTTCAGGACTAATTTGATTTTGTAGATATCATTGTAAGAACTTTATTTGAAAGACTGAATAAAGGGATTTGATTTGTTTTCATCATTTAAGCACAGTCTTGTGATGATGAGAACATAAGTGTGATTCTTTTCTGTATTTTGAGGTCCCTAATCCAAAGCCCATTTTGCTAGGATTTTTTCTGCTATCAGATGTGTTTTCACTCTAAACCTAGTCTTTTATGACATGAATTGATTACTTCCTGTTAATTTTCTATCCTCCCTTACTATCCTCCTTTTTTGTTTTCAGTATTCAGTATTTCAGTATTCTAGAGTAGATTTTGATATAAAAGAAAATAATTCTTACATCATCTTTTGCAACAAATTTTGTTTTCTGAATTGATAATAAATTTAAAAAGTTGATTCCTATTTTCACATATGTTCATATGCCCCTATGTTTGGGGGTATCACTCAGTTTTCCCTTTTTTGTGTAAAGATGTTTTGTAAAACAAAATTGTCTCAAAGTGATTATATTATATATATAAAAAGTAACAGATTTTAACAAAGGTTAAAAGATTCTTGGGGTAACAGATTCTTCTGGGGCTTGGAAATCTTCCATTTCTCTTGAGGGTTTTTTTTAATGAGTGTTAAATATGTTAAAATTTTTATTTCTACCTCATGTGTTTTTTTAAATTATTACTTGAAGTTTTTTATTTAATAAATTTTTTCTACTAATGGA)$ MAAATAAAALAAADPPPAMPQAAGAGGPTTRRDFYWLRSFLAGGIAGCCAKTTVAPLDRVKVLLQAHNHHYKHL|gqviivriiqhvtlks* 11BR015 ENSG00000230510.6 ENSG00000182013.18(9877),ENSG00000204851.7(9751) -/- ./- chr19:46525663 chr19:46481440 CDS/splice-site intergenic deletion/read-through 6 6 0 13 16 high out-of-frame . . . . ENSG00000230510.6 . ENST00000414155.5 . upstream downstream . ^(ATCCCTCCGCGCCCCGCTCCACACCTACGGGCCCGCGAATCTCTCGTCCCCACCCTGCACAGGAATTGGGTTTGCCGCCGGGCGCGCGCGCGCTCGCTCCCGTCGCCGGACTACTTTCCCTCGCCGCGCGCCCCGCCTCCCGGGCCCACTTCACTTTCTTCGGCGGAGGGGCACAGCTCGGCGGTGCGTGACGCGTCCCTCTGTGAGCCGCGTCACTATTGGGCCTGGCCCATGGCGGAAATGAGAGCTTGGCGCCCATTGGTCCGACCTTCCCTGCAATGCGTCAAACTGGGGCGAGCCACTGCAAGGTGGTGGTGG___GTGGTCAAGGTGAAGCCCCA)CGACAAGGATGCCAAAATGAAAaACCAGGAGTGCAACAAGATCGTGAAGCAGAAGGCCTTTGAcCGGGCCATCGCAGGCGACGAGCACAAGCGCTCCGTGGTGGACTCGCTGGACATCGAGAGCATGA___CCATCGAGGGTGAGTACAGCGGACCCAAGCTTGAGGACGACAAAGTGACAATCACCTTCATGAAGGGGCTCATGCAGTGGTACAAGGACCAGAAGAAACTGCACCAGAAATGCGCCTACCAG|GATTTCAGACAAAAATCAGGAATCATCACCAGCCAAGACTGTGTTCAGACCACGTGACGTCTTCCAGGCACCAGGAAGAAATACGACCAACCTCCGTAACAAATGAGAGAAACTTCACCTGACTGTGTTTTGTGC MAEMRAWRPLVRPSLQCVKLGRATARWWWVVKVKPHDKDAKMKnQECNKIVKQKAFdRAIAGDEHKRSVVDSLDIESMTIEGEYSGPKLEDDKVTITFMKGLMQWYKDQKKLHQKCAYQ|dfrqksgiitsqdcvqtt* 11BR015 ENSG00000168615.12 ENSG00000253344.1 +/+ -/+ chr8:39071403 chr8:37631446 CDS/splice-site intron duplication/5'-5' 7 2 0 460 7 high out-of-frame . ADAM_cysteine-rich(100%),Disintegrin(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%)| . . ENSG00000168615.12 ENSG00000253344.1 ENST00000487273.7 . downstream upstream . ^(AGACTTGGGGCCCCGGCAGGGTTGGAAAATGATGGAAGAGGCGGAGGTGGAGGCGACCGAGTGCTGAGAGGAACCTGCGGAATCGGCCGAGATGGGGTCTGGCGCGCGCTTTCCCTCGGGGACCCTTCGTGTCCGGTGGTTGCTGTTGCTTGGCCTGGTGGGCCCAGTCCTCGGTGCGGCGCGGCCAG___GCTTTCAACAGACCTCACATCTTTCTTCTTATGAAATTATAACTCCTTGGAGATTAACTAGAGAAAGAAGAGAAGCCCCTAGGCCCTATTCAAAACAA___GTATCTTATGTTATTCAGGCTGAAGGAAAAGAGCATATTATTCACTTGGAAAGGAACAA___AGACCTTTTGCCTGAAGATTTTGTGGTTTATACTTACAACAAGGAAGGGACTTTAATCACTGACCATCCCAATATACAG___AATCATTGTCATTATCGGGGCTATGTGGAGGGAGTTCATAATTCATCCATTGCTCTTAGCGACTGTTTTGGACTCAG___AGGATTGCTGCATTTAGAGAATGCGAGTTATGGGATTGAACCCCTGCAGAACAGCTCTCATTTTGAGCACATCATTTATCGAATGGATGATGTCTACAAAGAGCCTCTGAAATGTGGAGTTTCCAACAAGGATATAGAGAAAGAAACTGCAAAGGATGAAGAGGAAGAGCCTCCCAGCATGACTCAGCTACTTCGA___AGAAGAAGAGCTGTCTTGCCACAGACCCGGTATGTGGAGCTGTTCATTGTCGTAGACAAGGAAAGG___TATGACATGATGGGAAGAAATCAGACTGCTGTGAGAGAAGAGATGATTCTCCTGGCAAACTACTTGGATAGT___ATGTATATTATGTTAAATATTCGAATTGTGCTAGTTGGACTGGAGATTTGGACCAATGGAAACCTGATCAACATAGTTGGGGGTGCTGGTGATGTGCTGGGGAACTTCGTGCAGTGGCGGGAAAAGTTTCTTATCACACGTCGGAGACATGACAGTGCACAGCTAGTTCT___AAAGAAAGGTTTTGGTGGAACTGCAGGAATGGCATTTGTGGGAACAGTGTGTTCAAGGAGCCACGCAGGCGGGATTAATGTG___TTTGGACAAATCACTGTGGAGACATTTGCTTCCATTGTTGCTCATGAATTGGGTCATAATCTTGGAATGAATCACGATGATGGGAGAGATTGTTCCTGTGGAGCAAAGAGCTGCATCATGAATTCAGGAGCATC___GGGTTCCAGAAACTTTAGCAGTTGCAGTGCAGAGGACTTTGAGAAGTTAACTTTAAATAAAGGAGGAAACTGCCTTCTTAATATTCCAAAGCCTGATGAAGCCTATAGTGCTCCCTCCTGTGGTAATA)AGTTGGTGGACGCTGGGGAAGAGTGTGACTGTGGTACTCCAAAG___GAATGTGAATTGGACCCTTGCTGCGAAGGAAGTACCTGTAAGCTTAAATCATTTGCTGAGTGTGCATATGGTGACTGTTGTAAAGACTGTCGG___TTCCTTCCAGGAGGTACTTTATGCCGAGGAAAAACCAGTGAGTGTGATGTTCCAGAGTACTGCAATGGTTCTTCTCAGTTCTGTCAGCCAGATGTTTTTATTCAGAATGGATATCCTTGCCAGAATAACAAAGCCTATTGCTACAACGGCATGTGCCAGTATTATGATGCTCAATGTCAAGTCATCTTTGGCTCAA___AAGCCAAGGCTGCCCCCAAAGATTGTTTCATTGAAGTGAATTCTAAAGGTGACAGATTTGGCAATTGTGGTTTCTCTGGCAATGAATACAAGAAGTGTGCCACTGG|ATTCATAATGAGGATTCAACGAGATAATGGGCtTGCAGGGCCGTGCTCA___GATCATGTATCATGGATGCTGTATGCGATTTTGGAATGTTTCCTCTTTTTGAAATTTTAAGGCGGCAAAGTTGACATTCTGTC...___TTATTGCAGCTCTTTAGTCTTGCAAcGATTATAAATGCACATTTTAACTTCAACCGACTGATGGAATTTGAT MGSGARFPSGTLRVRWLLLLGLVGPVLGAARPGFQQTSHLSSYEIITPWRLTRERREAPRPYSKQVSYVIQAEGKEHIIHLERNKDLLPEDFVVYTYNKEGTLITDHPNIQNHCHYRGYVEGVHNSSIALSDCFGLRGLLHLENASYGIEPLQNSSHFEHIIYRMDDVYKEPLKCGVSNKDIEKETAKDEEEEPPSMTQLLRRRRAVLPQTRYVELFIVVDKERYDMMGRNQTAVREEMILLANYLDSMYIMLNIRIVLVGLEIWTNGNLINIVGGAGDVLGNFVQWREKFLITRRRHDSAQLVLKKGFGGTAGMAFVGTVCSRSHAGGINVFGQITVETFASIVAHELGHNLGMNHDDGRDCSCGAKSCIMNSGASGSRNFSSCSAEDFEKLTLNKGGNCLLNIPKPDEAYSAPSCGNKLVDAGEECDCGTPKECELDPCCEGSTCKLKSFAECAYGDCCKDCRFLPGGTLCRGKTSECDVPEYCNGSSQFCQPDVFIQNGYPCQNNKAYCYNGMCQYYDAQCQVIFGSKAKAAPKDCFIEVNSKGDRFGNCGFSGNEYKKCATg|fimriqrdnglagpcsdhvswmlyailecflflkf* 11BR015 ENSG00000151779.13 ENSG00000237326.1(13946),ENSG00000202160.1(40112) -/- ./- chr2:15275484 chr2:15824823 CDS/splice-site intergenic duplication 3 4 0 37 5 high out-of-frame . Neuroblastoma-amplified_sequence__N_terminal(100%),Secretory_pathway_protein_Sec39(100%)| . . ENSG00000151779.13 . ENST00000281513.10 . upstream downstream . ^(ACTCCTCCGCTGCCTGAGTCCTCGGCGAACATGGCGGCCCCCGAGTCAGGGCCGGCTTTGAGTCCAGGCACTGCAGAGGGTGAGGAGGAGACGATTCTCTATGACTTGTTGGTCAACACCGAGTGGCCACCGGAGACTGAAGTACAG___CCTAGAGGCAACCAAAAACATGGTGCATCCTTTATCATCACGAAAGCAATTCGAG___ATCGTTTATTATTTTTACGCCAATACATCTGGTACAG___CCCGGCACCTTTTTTGCTCCCTGATGGACTGGTTCGCTTGGTTAATAAACAGATAAACTGGCATTTGGTACTTGCAAG___CAATGGAAAGCTTTTGGCTGCTGTTCAAGATCAGTGTGTGGAAATCAG___GTCTGCAAAAGATGATTTTACATCCATTATTGGGAAATGTCAAG___TTCCGAAAGACCCGAAACCCCAGTGGAGACGGGTAGCATGGAGTTACGATTGTACCCTACTGGCCTATGCCGAAAGCACAGGAACTGTGAGGGTGTTTGATCTCATGGGAAGTGAACTCTTTGTCATTTCCCCG___GCATCTAGTTTTATAGGTGACTTAAGCTATGCCATTGCTGGGTTGATATTTTTAGAATATAAAGCAAGTGCACAGTGGTCTGCAGAACTCCTGGTCATCAATTACCGAGGAGAACTTAGAAGTTACCTTGTAAG___TGTTGGAACAAATCAGAGCTACCAAGAAAGTCACTGTTTCAGCTTCAGTAGTCATTATCCTCATGGAATCAACACAGCTATTTACCACCCTGGTCACAG___ACTTTTACTTGTTGGTGGATGTGAAACTGCTGAAGTAGGCATGTCAAAAGCTTCTAGCTGTGGCCTTTCTGCCTGGAGAGTTCTTTCAGGATCACCGTATTATAAGCAGGTTACTAATGGTGGAGACGGGGTTACTGCA___GTACCGAAGACACTGGGATTATTAAGGATGTTAAGTGTCAAGTTTTACAGTCGCCAGGGACAAGAACAG___GATGGAATTTTTAAGATGAGCCTTTCTCCAGATGGGATGCTCCTGGCAGCCATTCACTTCTCAGGGAAACTGAGCATCTGGGCGATTCCATCTCTGAAGCAACAAGGGGAATGGGGTCAAAATGAGCAG___CCAGGCTATGATGACCTTAATCCTGATTGGAGGCTCTCTACTGAGAAGAGAAAAAAAATCAAAG___ATAAAGAGTCCTTTTACCCACTGATAGATGTCAATTGGTGGGCAGACAGTGCAGTGACTTTAGCTCGATGCTCTGGTGCTTTAACTGTTTCATCTGTGAAAACTTTGAAGAATTTACTGGGAAAATCCTGTGAATGGTTTGAACCATCACCTCAAGTCACTGCTACCCATGATGGGGGATTTTTAAGTTTGGAG___TGTGAGATTAAACTTGCCCCCAAACGATCTCGTTTGGAGACTAGAGCTGGAGAAGAAGATGAAGGAGAAGAGGATTCTGATTCTGATTATGAAATATCTGCCAAGGCTCGCTACTTTGGTTATATAAAACAGGGCCTTTACTTGGTGACTGAAATGGAGCGATTTGCACCACCACGGAAACGCCCACGAACCATTACTAAAAACTACCGCCTTGTGAGTTTGCGCTCCACGACACCAGAGGAACTTTATCAGAGGAAG___ATTGAAAGTGAAGAGTATGAGGAAGCCTTGTCCTTGGCTCATACCTACGGCCTGGATACTGACCTTGTATATCAGAGGCAGTGGAGGAAGTCAGCGGTCAACGTTGCTTCAATTCAGAATTATTTG___AGTAAAATAAAGAAGCGATCCTGGGTTCTCCATGAGTGTTTGGAAAGAGTTCCTGAAAATGTGGATGCTGCAAAAGAACTGCTTCAGTATGGATTAAAAGGCACAGACCTGGAGGCTCTTTTAGCAATAGGGAAAGGAGCAGATGATGGCAG___ATTTACATTACCTGGTGAAATAGACATTGACAGTATCTCCTATGAAGAGCTTTCACCACCTGATGAAGAGCCTGCCAAGAATAAAAAGGAAAAGGAGCTCAAGAAGAGACAAGAACTACTGAAATTAGTGAACTTTTCCAA___GTTGACACTGGAACAAAAGGAACTTTGCCGTTGTAGACGGAAGTTATTAACCTACTTAGATCGACTTGCAACATATGAG___GAAATCCTAGGAGTGCCTCATGCATCTGAACAGAGATATGATGCTGAATTCTTTAAGAAATTCAGAAATCAGAATATTGTTCTCTCAGCAAGAACTTATGCTCAG___GAAAGTAATGTACAAGCCCTGGAAATTCTGTTTACTTACCATGGTTCCGACCTGCTTCCTCATCGCCTTGCAATTCTGTCCAACTTTCCAGAGACCACTTCTCCACATGAATATTCTGTTTTGCTGCCCGAAGCTTG___TTTTAACGGTGACTCCCTGATGATCATTCCTTGGCATGAACATAAACACCGAGCTAAAGATTGGTGCGAGGAGTTGGCTTGCAG___AATGGTTGTTGAGCCGAATCTCCAAGATGAAAGTGAATTCTTGTATGCTGCACAGCCTGAGTTACTAAGGTTCAGGATGACCCAGCTTACGGTGGAGAAGGTTATGGACTGGTATCAGACCAGAGCAGAGGAAATAGAGCATTATGCTCGGCAG___GTGGACTGTGCATTGTCACTTATTCGACTTGGGATGGAGCGGAATATTCCTGGTTTGCTGGTTCTCTGTGACAATTTGGTTACTCTGGAAACATTGGTTTATGAAGCCAGGTGTGATGTAACTCTAACCCTGAAAGAACTCCAGCAGATGAAAGACATTGAAAAACTAAGATTACTGATGAATAGT___TGTTCTGAGGATAAATATGTGACAAGTGCCTACCAGTGGATGGTTCCCTTTCTTCATCGTTGTGAGAAACAGTCGCCTGGTGTGGCTAATGAGCTATTAAAAGAATATTTAGTAACTTTAGCTAAAGGGGACTTAAAATTTCCCCTGAAGATATTTCAGCATTCCAAACCAGAT___CTGCAGCAAAAAATTATTCCTGATCAGGACCAACTGATGGCAATAGCACTAGAGTGCATCTATACCTGTGAACGAAATGATCAACTCTGTCTTTGCTATGACCTACTAGAATGTCTGCCAGAAAGAGGATATGG___TGATAAGACAGAGGCAACCACAAAGCTTCATGACATGGTAGACCAACTGGAACAAATTCTCAG___TGTGTCAGAGCTTTTGGAAAAACATGGACTCGAGAAACCAATTTCATTTGTTAAAAACACTCAATCTAGCTCAGAAGAGGCACGCAAGCTGATGGTTAGATTGACGAGGCACACTGGCCGGAA___GCAGCCTCCTGTCAGTGAGTCTCATTGGAGAACGTTGCTGCAAGACATGTTAACTATGCAGCAGAATGTATACACATGTCTAGATTCTGATGCCTGCTATGAG___ATATTTACAGAAAGCCTTCTGTGCTCTAGTCGCCTTGAAAACATCCACCTGGCTGGACAGATGATGCACTGCAGTGCTTGTTCAGAAAATCCTCCAGCTGGTATAGCCCATAAAGGGAAACCCCACTACAGGGTCAGCTACGAAAAGAGTATTGACTTGGTTTTGGCTGCCAGCAGAGAGTACTTCAATTCTTCTACCAACCTCACTGATAGCTGCATGGATCTAGCCAG___GTGCTGCTTACAACTGATAACAGACAGACCCCCTGCCATTCAAGAGGAGCTAGATCTTATCCAAGCCGTTGGATGTCTTGAAGAATTTGGGGTAAAGATCCTGCCTTTGCAAG___TGCGATTGTGCCCTGATCGGATCAGTCTCATCAAGGAGTGTATTTCCCAGTCCCCCACATGCTATAAACAATCCACCAAGCTTCTGGGCCTTGCTGAGCTGCTGAGGGTTGCAG___GTGAGAACCCAGAAGAAAGGCGGGGACAGGTTCTAATCCTTTTAGTGGAGCAGGCACTTCGCTTCCATGACTACAAAGCAGCCAGTATGCATTGTCAGGAGCTGATGGCCACAG___GTTATCCTAAAAGTTGGGATGTTTGTAGCCAGTTAGGACAATCAGAAGGTTACCAGGACTTGGCCACTCGTCAAGAGCTCATGGCTTTTGCTTTGACACATTGCCCTCCTAGCAGCATTGAACTTCTTTTGGCAGCTAGCAGCTCTCTGCAGACAGAA___ATTCTTTATCAAAGAGTGAATTTCCAGATCCATCATGAAGGAGGGGAAAATATCAGTGCTTCACCATTAACTAGTAAAGCAGTACAAGAG___GATGAAGTAGGTGTTCCAGGTAGCAATTCAGCTGACCTATTGCGCTGGACCACTGCTACCACCATGAAAGTCCTTTCCAACACCACAACCACCACCAAAGCGGTGCTGCAGGCCGTCAGTGATGGGCAGTGGTGGAAGAAGTCTTTAACTTACCTTCGACCCCTTCAG___GGGCAAAAATGTGGTGGTGCATATCAAATCGGAACTACAGCCAATGAAGATCTAGAGAAACAAGGGTGTCATCCTTTTTATGAATCTGTCATCTCAAATCCTTTTGTCGCTGAG___TCTGAAGGGACCTATGACACCTATCAGCATGTTCCAGTGGAAAGCTTTGCAGAAGTATTGCTGAGAACTGGAAAATTGGCAGAGGCTAAAAATAAAGGAGAAGTATTTCCAACAACTGAAG___TTCTCTTGCAACTAGCAAGTGAAGCCTTGCCAAATGACATGACCTTGGCTCTTGCTTACCTTCTTGCCTTACCACAA___GTGTTAGATGCTAACCGGTGCTTTGAAAAGCAGTCCCCCTCTGCATTATCTCTCCAGCTGGCAGCGTATTACTATAGCCTCCAGATCTATGCCCGATTGGCCCCATGTTTCAGGGACAAGTGCCATCCTCTTTACAGG___GCTGATCCCAAAGAACTAATCAAGATGGTCACCAGGCATGTGACTCGACATGAGCACGAAGCCTGGCCTGAAGACCTTATTTCACTGACCAAGCAGTTACACTGCTACAATGAACGTCTCCTGGATTTCACTCAGGCGCAGATCCTTCAGGGCCTTCGGAAGGGTGTGGACGTGCAGCGGTTTACTGCAGATGACCAGTATAAAAGGGAAACTATCCTTGGTCTGGCAGA___AACTCTAGAGGAAAGCGTCTACAGCATTGCTATTTCTCTGGCACAACGTTACAGTGTCTCCCGCTGGGAAGTTTTTATGACCCATTTGGAGTTCCTCTTCACGGACAGTGG___TTTGTCCACACTAGAAATTGAAAATAGAGCCCAAGACCTTCATCTCTTTGAGACTTTGAAGACTGATCCAGAAGCCTTTCACCAGCACATGGTCAAGTATATTTACCCTACTATTGGTGGCTTTGATCACGAAAGGCTGCAGTATTATTTCACTCTTCTGGAAAACTGTGGCTGTGCAGATTTGGGGAACTGTGCCATTAAACCAGAAACCCACATTCGACTGCTGAAGAAGTTTAAGGTTGTTGCATCAG___GTCTTAATTACAAAAAGCTGACAGATGAAAACATGAGTCCTCTTGAAGCATTGGAGCCAGTTCTTTCAAGTCAAAATATCTTGTCTATTTCCAAACTTGTTCCCAAAATCCCTGAAAAGGATGGACAGATGCTTTCCCCAAGCTCTCTGTACACCATCTGGTTACAGAAGTTGTTCTGGACTGGAGACCCTCATCTCATTAAACAAGTCCCA)GGCTCTTCACCGGAGTGGCTTCATGCCTATGATGTCTGCATGAAGTACTTTGATCGTCTCCACCCAGGTGACCTCATCACTGTGGTAGATGCAGTTACATTTTCTCCAAAAGCTGTGACCAAG|ATGAGAAAACTGAGGCTCAGAGAGACTGGATGACATGCCTGATGCCACACCAAATACAGAGGATCCGATTTCAAAAGTCCTGCATGAGGCAAGTAACTTGGGTCGTAG...___GAAGCCAGATC MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTK|mrklrlretg* 11BR015 ENSG00000173933.21 ENSG00000110042.8 +/+ +/- chr11:66640123 chr11:59179819 CDS/splice-site intron inversion/3'-3' 1 2 0 374 3 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000173933.21 ENSG00000110042.8 ENST00000396053.9 . downstream downstream duplicates(1) ^(AGAGCACTGCTGCGGCCGCCGCCATTTTAGCGTTTTGTCAGAAGCGTCCGCGCCGCGAGGAGGAGGCCCTGCTGGTTTCTGTGCGG___GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGCAGCTGAGGATGCCATACGCAACCTGCACCATTACAAGCTTCATGGGGTGAACATCAACGTGGAAGCCAGCAAGAATAAGAGCAAAACCTCAACAAAGTTGCATGTGGGCAACATCAGTCCCACCTGCACCAATAAGGAGCTTCGAGCCAAGTTTGAGGAGTATGGTCCGGTCAT)CGAATGTGACATCGTGAAAGATTATGCCTTCGTACACATGGAGCGGGCAGAGGATGCAGTGGAGGCCATCAGGGGCCTTGATAACACAGAGTTTCAAG|CCAGGGACCTCTGGCTGGCAACACCCTGCCTGGGCCTCACTCGGCCACACAACCTGCTGCAGGAGATGGCAAGAGATGACTCGCCCACTCTGCCCACCTGGGCCAAGTTTGGCTGCAC...ATGCTGACAATCGAAGAGTGAACAAGGTGGGGAGTTTTATTGAGTGATGAAACAGCTTTCAGCAGAGAGGGGACCCAGGGGTGGTGCCCCTACCGAAAAGTGGGAAAGcCCCTGCAATGTGGCTGAGTCTGGGGCTTTTATAAGCTCAGA MVKLFIGNLPREATEQEIRSLFEQYGKVLECDIIKNYGFVHIEDKTAAEDAIRNLHHYKLHGVNINVEASKNKSKTSTKLHVGNISPTCTNKELRAKFEEYGPVIECDIVKDYAFVHMERAEDAVEAIRGLDNTEFQ|ardlwlatpclgltrphnllqemarddsptlptwakfgc 11BR015 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 6 7 1 155 30 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream mismappers(1) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCATCGACAGGGAAAACTTCGTGGACATTGTTGATGCCAAG___TTGAAGATTCCTGTCTCTGGATCCAAATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGGCCCCTTTCAGAG___GTGGCACCTTGACGAG)GTCTTTTTAGAGCTCAAGGATGGTCAGCAGATTCCTGTGTTCAAGCTCAGTGGGGAAAACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCATAGTGGACCTTTATTGTCTCCTGAGCACCCATTCTTTGTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCTCTTCCTCCAGAGTTGGAGCCTATGACACTGATGACACTGGCATGGAAAGCCAAAGCCCTACACCAACCAGC . 11BR015 ENSG00000173335.5 ENSG00000101435.5(14434),ENSG00000204658.5(727) -/- ./- chr20:23603728 chr20:23582918 CDS intergenic deletion/read-through 4 6 0 48 30 medium out-of-frame . . . . ENSG00000173335.5 . ENST00000376971.4 . upstream downstream . ^(AGTGGACGCCAGGGATCTGAAGGGCAAAGGCAAGGGCTGCTGGAGCCTGCATCATGTCGAGTCCGCAGAGGAGGAAGG)CTATGCCCTGGGCACTGTCACTGCTTCTCATGGGCTTCCAGCTCCTGGTGACTTATGCCTGGTGTTCTGAAGAGGAAATGGGTGGTAATAATAAAATAGTCCAGGATCCTATGTTCtTCGCCACAGTGGAGTTTGCCTTGAACACTTTCAACGTGCAGAGCAAGGAGGAGCATGCCTACAGGCTGTTGCGCGTCCTGAGTTCATGGAGGGAGGATAGCATGGACAGAAAG___TGGCGAG|CTAAAACAAAATCTGTGATGGATCATCATGGCAGACAGGAGACAGGACTAGATTACAGCTCTGAACAGAGCAGCGTGTGGAAGCTCACGCTGTGAATTCTAGCTCCAGATTGACTGCAAGAACAATCCAGCAATCCCAAGAGGATCCACAGACCCTCTCAAAGAAGC MSSPQRRKAMPWALSLLLMGFQLLVTYAWCSEEEMGGNNKIVQDPMFfATVEFALNTFNVQSKEEHAYRLLRVLSSWREDSMDRKWR|aktksvmdhhgrqetgldysseqssvwkltl* 11BR015 ENSG00000186635.14 ENSG00000149256.16 -/- -/- chr11:72752328 chr11:79215909 5'UTR/splice-site 5'UTR/splice-site duplication 0 3 0 5 8 medium . . |EGF-like_domain(100%),GHH_signature_containing_HNH/Endo_VII_superfamily_nuclease_toxin(100%),Human_growth_factor-like_EGF(100%),RHS_Repeat(100%),Teneurin_Intracellular_Region(100%) . . ENSG00000186635.14 ENSG00000149256.16 ENST00000393609.7 ENST00000278550.12 upstream downstream . ^(AATTTGGCGGTGGC)GGTGTAAGTCGGTGGCGGCGCCGGTACGCCTGGTCCCCGCGTGGAGTCTTTACTCAAAACAG|AAAAGATCCCGCACCATCCTCCAGGATCCAATGGCCTTGGAGAGAGGGCTGCAGGGCCCACGGACATTGCTGACTCTTCAGAACGTGCTGACATGGAGCCAG(___GTAGACTGAAATTACCATGTGTCCAAATTAAAATTGCATACTTCAAGGATTATTTGAAGGACTATTCTTAGACCCTTTTAAGAAGATTTAAAGAAAA___ACCACTCGGCCCTGAGTGCGGCGAGGACCCTGTTTGTGGATGTGGAGGAGCGCGGGCCGGAGGCCATGGACGTGAAGGAGAGGAAGCCTTACCGCTCGCTGACCCGGCGCCGCGACGCCGAGCGCCGCTACACCAGCTCGTCCGCGGACAGCGAGGAGGGCAAAGCCCCGCAGAAATCGTACAGCTCCAGCGAGACCCTGAAGGCCTACGACCAGGACGCCCGCCTAGCCTATGGCAGCCGCGTCAAGGACATTGTGCCGCAGGAGGCCGAGGAATTCTGCCGCACAG___GTGCCAACTTCACCCTGCGGGAGCTGGGGCTGGAAGAAGTAACGCCCCCTCACGGGACCCTGTACCGGACAGACATTGGCCTCCCCCACTGCGGCTACTCCATGGGGGCTGGCTCTGATGCCGACATGGAGGCTGACACGGTGCTGTCCCCTGAGCACCCCGTGCGTCTGTGGGGCCGGAGCACACGGTCAGGGCGCAGCTCCTGCCTGTCCAGCCGGGCCAATTCCAATCTCACACTCACCGACACCGAGCATGAAAACACTGAGACTG___ATCATCCGGGCGGCCTGCAGAACCACGCGCGGCTCCGGACGCCGCCGCCGCCGCTCTCGCACGCCCACACCCCCAACCAGCACCACGCGGCCTCCATTAACTCCCTGAACCGGGGCAACTTCACGCCGAGGAGCAACCCCAGCCCGGCCCCCACGGACCACTCGCTCTCCGGAGAGCCCCCTGCCGGCGGCGCCCAGGAGCCTGCCCACGCCCAGGAGAACTGGCTGCTCAACAGCAACATCCCCCTGGAGACCAG___AAACCTAGGCAAGCAGCCATTCCTAGGGACATTGCAGGACAACCTCATTGAGATGGACATTCTCGGCGCCTCCCGCCATGATGGGGCTTACAGTGACGG___GCACTTCCTCTTCAAGCCTGGAGGCACCTCCCCGCTCTTCTGCACCACATCACCAGGGTACCCACTGACGTCCAGCACAGTGTACTCTCCTCCGCCCCGACCCCTGCCCCGCAGCACCTTCGCCCGGCCGGCCTTTAACCTCAAGAAGCCCTCCAAGTACTGTAACTGGAAGTGCGCAGCCCTGAGCGCCATCGTCATCTCAGCCACTCTGGTCATCCTGCTGGCATACTTTGTGG___CCATGCACCTGTTTGGCCTAAACTGGCACCTGCAGCCGATGGAGGGGCAGATGTATGAGATCACGGAGGACACAGCCAGCAGTTGGCCTGTGCCAACCGACGTCTCCCTATACCCCTCAGGGGGCACTGGCTTAGAGACCCCTGACAGGAAAGGCAAAGGAACCACAGAAG___GAAAGCCCAGTAGTTTCTTTCCAGAGGACAGTTTCATAGATTCTGGAGAAATTGATGTGGGAAGGCGAGCTTCCCAGAAGATTCCTCCTGGCACTTTCTGGAGATCTCAAGTGTTCATAGACCATCCTGTGCATCTGAAATTCAATGTGTCTCTGGGAAAGGCAGCCCTGGTTGGCATTTATGGCAGAAAAGGCCTCCCTCCTTCACATACACAG___TTTGACTTTGTGGAGCTGCTGGATGGCAGGAGGCTCCTAACCCAGGAGGCGCGGAGCCTAGAGGGGACCCCGCGCCAGTCTCGGGGAACTGTGCCCCCCTCCAGCCATGAGACAGGCTTCATCCAGTATTTGGATTCAGGAATCTGGCACTTGGCTTTTTACAATGACGGAAAGGAGTCAGAAGTGGTTTCCTTTCTCACCACTGCCATTG___AGTCGGTGGATAACTGCCCCAGCAACTGCTATGGCAATGGTGACTGCATCTCTGGGACCTGCCACTGCTTCCTGGGTTTCCTGGGCCCCGACTGTGGCAGAG___CCTCCTGCCCCGTGCTCTGTAGCGGAAATGGCCAATACATGAAAGGCAGATGCTTGTGCCACAGTGGCTGGAAAGGCGCTGAGTGCGATGTGCCCACCAACCAGTGTATCGATGTGGCCTGCAGCAACCATGGCACCTGCATCACGGGCACCTGCATCTGCAACCCTGGCTACAAGGGCGAGAGCTGTGAGGAAG___TGGACTGCATGGACCCCACATGTTCAGGCCGGGGTGTCTGCGTGAGAGGCGAATGCCACTGCTCTGTGGGATGGGGAGGCACCAACTGCGAGACCCCCAGGGCCACATGCTTAGACCAGTGTTCAGGCCACGGAACCTTCCTCCCGGACACCGGGCTTTGCAGCTGTGACCCAAGCTGGACTGGACACGACTGTTCTATCG___AGATCTGTGCTGCCGACTGTGGTGGCCATGGCGTGTGCGTAGGGGGCACCTGCCGCTGCGAGGATGGCTGGATGGGGGCAGCCTGCGACCAGCGGGCCTGCCACCCGCGCTGTGCCGAGCATGGGACCTGCCGCGACGGCAAGTGCGAGTGCAGCCCTGGCTGGAATGGCGAACACTGCACCATCG___CTCACTATCTGGATAGGGTAGTTAAAG___AGGGTTGCCCTGGGTTGTGCAATGGCAACGGCAGATGTACCTTAGACCTGAATGGTTGGCACTGCGTCTGCCAGCTGGGCTGGAGAGGAGCTGGCTGTGACACTTCCATGGAGACTGCCTGCGGTGACAGCAAAGACAATGATGGAG___ATGGCCTGGTGGACTGCATGGACCCTGACTGCTGCCTCCAGCCCCTGTGCCATATCAACCCGCTGTGCCTTGGCTCCCCTAACCCTCTGGACATCATCCAGGAGACACAGGTCCCTGTGTCACAGCAGAACCTACACTCCTTCTATGACCGCATCAAGTTCCTCGTGGGCAGGGACAGCACGCACATAATCCCCGGGGAGAACCCCTTTGATGGAGG___GCATGCTTGTGTTATTCGTGGCCAAGTGATGACATCAGATGGAACCCCCCTGGTTGGTGTGAACATCAGTTTTGTCAATAACCCTCTCTTTGGATATACAATCAGCAGGCAAGATGGCAG___CTTTGACTTGGTGACAAATGGCGGCATCTCCATCATCCTGCGGTTCGAGCGGGCACCTTTCATCACACAGGAGCACACCCTGTGGCTGCCATGGGATCGCTTCTTTGTCATGGAAACCATCATCATGAGACATGAGGAGAATGAGATTCCCAGCTGTGACCTGAGCAATTTTGCCCGCCCCAACCCAGTCGTCTCTCCATCCCCACTGACGTCCTTCGCCAGCTCCTGTGCAGAGAAAGGCCCCATTGTGCCGGAAATTCAG___GCTTTGCAGGAGGAAATCTCTATCTCTGGCTGCAAGATGAGGCTGAGCTACCTGAGCAGCCGGACCCCTGGCTACAAATCTGTCCTGAGGATCAGCCTCACCCACCCGACCATCCCCTTCAACCTCATGAAGGTGCACCTCATGGTAGCGGTGGAGGGCCGCCTCTTCAGGAAGTGGTTCGCTGCAGCCCCAGACCTGTCCTATTATTTCATTTGGGACAAGACAGACGTCTACAACCAGAAGGTGTTTGGGCTTTCAGAAGCCTTTG___TTTCCGTGGGTTATGAATATGAATCCTGCCCAGATCTAATCCTGTGGGAAAAAAGAACAACAGTGCTGCAGGGCTATGAAATTGACGCGTCCAAGCTTGGAGGATGGAGCCTAGACAAACATCATGCCCTCAACATTCAAAGTG___GCATCCTGCACAAAGGGAATGGGGAGAACCAGTTTGTGTCTCAGCAGCCTCCTGTCATTGGGAGCATCATGGGCAATGGGCGCCGGAGAAGCATCTCCTGCCCCAGCTGCAACGGCCTTGCTGACGGCAACAAGCTCCTGGCCCCAGTGGCCCTCACCTGTGGCTCTGACGGGAGCCTCTATGTGGGTGATTTCAACTACATTAGAAGGATCTTCCCCTCTGGAAATGTCACCAACATCCTAGAGCTGAG___AAATAAAGATTTCAGACATAG___TCACAGTCCAGCACACAAATACTACCTGGCCACAGACCCCATGAGTGGGGCCGTCTTCCTTTCTGACAGCAACAGCCGGCGGGTCTTTAAAATCAAGTCCACTGTGGTGGTGAAGGACCTTGTCAAGAACTCTGAGGTGGTTGCGGGGACAGGTGACCAGTGCCTCCCCTTTGATGACACTCGCTGCGGGGATGGTGGGAAGGCCACAGAAGCCACACTCACCAATCCCAGGG___GCATTACAGTGGACAAGTTTGGGCTGATCTACTTCGTGGATGGCACCATGATCAGACGCATCGATCAGAATGGGATCATCTCCACCCTGCTCGGCTCTAATGATCTCACATCAGCCCGGCCACTCAGCTGTGATTCTGTCATGGATATTTCCCAG___GTTCACCTGGAGTGGCCCACAGACTTAGCCATCAACCCAATGGACAACTCACTTTATGTCCTCGACAACAATGTGGTCCTGCAAATCTCTGAAAACCACCAGGTGCGCATTGTCGCCGGGAGGCCCATGCACTGCCAGGTCCCTGGCATTGACCACTTCCTGCTAAGCAAGGTGGCCATCCACGCAACCCTGGAGTCAGCCACCGCTTTGGCTGTTTCACACAATGGGGTCCTGTATATTGCTGAGACTGATGAGAAAAAGATCAACCGCATCAGGCAGGTCACCACTAGTGGAGAGATCTCACTCGTTGCTGGGGCCCCCAGTGGCTGTGACTGTAAAAATGATGCCAACTGTGATTGTTTTTCTGGAGACGATGGTTATGCCAAGGATGCAAAGTTAAATACCCCATCTTCCTTGGCTGTGTGTGCTGATGGGGAGCTCTACGTGGCCGACCTTGGGAACATCCGAATTCGGTTTATCCGGAAGAACAAGCCTTTCCTCAACACCCAGAACATGTATGAGCTGTCTTCACCAATTGACCAGGAGCTCTATCTGTTTGATACCACCGGCAAGCACCTGTACACCCAAAGCCTGCCCACAGGAGACTACCTGTACAACTTCACCTACACTGGGGACGGCGACATCACACTCATCACAGACAACAATGGCAACATGGTAAATGTCCGCCGAGACTCTACTGGGATGCCCCTCTGGCTGGTGGTCCCAGATGGCCAGGTGTACTGGGTGACCATGGGCACCAACAGTGCACTCAAGAGTGTGACCACACAAGGACACGAGTTGGCCATGATGACATACCATGGCAATTCCGGCCTTCTGGCAACCAAAAGCAATGAAAACGGATGGACAACATTTTATGA___GTACGACAGCTTTGGCCGCCTGACAAATGTGACCTTCCCTACTGGCCAGGTGAGCAGTTTCCGAAGTGATACAGACAGTTCAGTGCATGTCCAGGTAGAGACCTCCAGCAAGGATGATGTCACCATAACCACCAACCTGTCTGCCTCAGGCGCCTTCTACACACTGCTGCAAG___ACCAAGTCCGGAACAGCTACTACATCGGGGCCGATGGCTCCTTGCGGCTGCTGCTGGCCAACGGCATGGAGGTGGCGCTGCAGACTGAGCCCCACTTGCTGGCTGGCACCGTCAACCCCACCGTGGGCAAGAGGAATGTCACGCTGCCCATCGACAACGGCCTCAACCTGGTGGAGTGGCGCCAGCGCAAAGAGCAGGCTCGGGGCCAGGTCACTGTCTTTGGGCGCCGGCTGCGG___GTTCACAACCGAAATCTCCTATCTCTGGACTTTGATCGCGTAACACGCACAGAGAAGATCTATGATGACCACCGCAAGTTCACCCTTCGGATTCTGTACGACCAGGCGGGGCGGCCCAGCCTCTGGTCACCCAGCAGCAGGCTGAATGGTGTCAACGTGACATACTCCCCTGGGGGTTACATTGCTGGCATCCAGAGGGGCATCATGTCTGAAAGAATGGAATACGACCAGGCGGGCCGCATCACATCCAGGATCTTCGCTGATGGGAAGACATGGAGCTACACATACTTAGAGAAG___TCCATGGTGCTGCTACTACACAGCCAGAGGCAGTATATCTTTGAGTTCGACAAGAATGACCGCCTCTCTTCTGTGACGATGCCCAACGTGGCGCGGCAGACACTAGAGACCATCCGCTCAGTGGGCTACTACAGAAACATCTATCAGCCCCCTGAGGGCAATGCCTCAGTCATACAGGACTTCACTGAGGATGGGCACCTCCTTCACACCTTCTACCTGGGCACTGGCCGCAGGGTGATATACAAGTATGGCAAACTGTCAAAGCTGGCAGAGACGCTCTATGACACCACCAAGGTCAGTTTCACCTATGACGAGACGGCAGGCATGCTGAAGACCATCAACCTACAGAATGAGGGCTTCACCTGCACCATCCGCTACCGTCAGATTGGGCCCCTGATTGACCGACAGATCTTCCGCTTCACTGAGGAAGGCATGGTCAACGCCCGTTTTGACTACAACTATGACAACAGCTTCCGGGTGACCAGCATGCAGGCTGTGATCAACGAGACCCCACTGCCCATTGATCTCTATCGCTATGATGATGTGTCAGGCAAGACAGAGCAGTTTGGGAAGTTTGGTGTCATTTACTATGACATTAACCAGATCATCACCACAGCTGTCATGACCCACACCAAGCATTTTGATGCATATGGCAGGATGAAGGAAGTGCAGTATGAGATCTTCCGCTCGCTCATGTACTGGATGACCGTCCAGTATGATAACATGGGGCGAGTAGTGAAGAAGGAGCTGAAGGTAGGACCCTACGCCAATACCACTCGCTACTCCTATGAGTATGATGCTGACGGCCAGCTGCAGACAGTCTCCATCAATGACAAGCCACTCTGGCGCTACAGCTACGACCTCAATGGGAACCTGCACTTACTGAGCCCTGGGAACAGTGCACGGCTCACACCACTACGGTATGACATCCGCGACCGCATCACTCGGCTGGGTGACGTGCAATACAAGATGGATGAGGATGGCTTCCTGAGGCAGCGGGGCGGTGATATCTTTGAGTACAACTCAGCTGGCCTGCTCATCAAGGCCTACAACCGGGCTGGCAGCTGGAGTGTCAGGTACCGCTACGATGGCCTGGGGCGGCGCGTGTCCAGCAAGAGCAGCCACAGCCACCACCTGCAGTTCTTCTATGCAGACCTGACCAACCCCACCAAGGTCACCCACCTGTACAACCACTCCAGCTCTGAGATCACCTCCCTCTACTACGACTTGCAAGGACACCTCTTTGCCATGGAGCTGAGCAGTGGTGATGAGTTTTACATAGCTTGTGACAACATCGGGACCCCTCTTGCTGTCTTTAGTGGAACAGGTTTGATGATCAAGCAAATCCTGTACACAGCCTATGGGGAGATCTACATGGATACCAACCCCAACTTTCAGATCATCATAGGCTACCATGGTGGCCTCTATGATCCACTCACCAAGCTTGTCCACATGGGCCGGCGAGATTATGATGTGCTGGCCGGACGCTGGACTAGCCCAGACCACGAGCTGTGGAAGCACCTTAGTAGCAGCAACGTCATGCCTTTTAATCTCTATATGTTCAAAAACAACAACCCCATCAGCAACTCCCAGGACATCAAGTGCTTCATGACAG___ATGTTAACAGCTGGCTGCTCACCTTTGGATTCCAGCTACACAACGTGATCCCTGGTTATCCCAAACCAGACATGGATGCCATGGAACCCTCCTACGAGCTCATCCACACACAGATGAAAACGCAGGAGTGGGACAACAGCAAG___TCTATCCTCGGGGTACAGTGTGAAGTACAGAAGCAGCTCAAGGCCTTTGTCACCTTAGAACGGTTTGACCAGCTCTATGGCTCCACAATCACCAGCTGCCAGCAGGCTCCAAAGACCAAGAAGTTTGCATCCAGCGGCTCAGTCTTTGGCAAGGGGGTCAAGTTTGCCTTGAAGGATGGCCGAGTGACCACAGACATCATCAGTGTGGCCAATGAGGATGGGCGAAGGGTTGCTGCCATCTTGAACCATGCCCACTACCTAGAGAACCTGCACTTCACCATTGATGGGGTGGATACCCATTACTTTGTGAAACCAGGACCTTCAGAAGGTGACCTGGCCATCCTGGGCCTCAGTGGGGGGCGGCGAACCCTGGAGAATGGGGTCAACGTCACTGTGTCCCAGATCAACACAGTACTTAATGGCAGGACTAGACGCTACACAGACATCCAGCTCCAGTACGGGGCACTGTGCTTGAACACACGCTACGGGACAACGTTGGATGAGGAGAAGGCACGGGTCCTGGAGCTGGCCCGGCAGAGAGCCGTGCGCCAAGCGTGGGCCCGCGAGCAGCAGAGACTGCGGGAAGGGGAGGAAGGCCTGCGGGCCTGGACAGAGGGGGAGAAGCAGCAGGTGCTGAGCACAGGGCGGGTGCAAGGCTACGACGGCTTTTTCGTGATCTCTGTCGAGCAGTACCCAGAACTGTCAGACAGCGCCAACAACATCCACTTCATGAGACAGAGCGAGATGGGCCGGAGGTGACAGAGAGGACCAAGGACTTCTTGCCAAAGACAGCTACTCTTTTGTGGCCGCATACCTGACTGTGTTGTACTTTTAAAAAAATGATTTTTTAACAAGTGCAGAAACAAAAAGATACTGGTTGCATTGTAACTCATGCAACATCCTTTTTTTTAGAAAAGAAAAACACAGATTTGGCCTTCGCACATTTTTTGCAAAGAACAGAAGGTATTTTTTTCTGTAGTGTGATCACAATGAAAACTTTATTGTCTTTTGTTCCCTTTTTCCTTGAGGATTTTTCCCTTGTCGTTTGGGGTATGTATCTCCTCTCTGAGATGCATCTCCTGGGGTGTGTCCTCGTCTGTCCCTAGGTACCCAGTGTGATGTGGGACATGAATGTCTGTGCTAACTTGTCTCATGTGCAACCCTTTCTTCTTCGACTGGGGTCGGGCAGGAGTAAAGGGAGTGATGGGCCAGTACAACACCCCTTCCAAGGGGGCCTGGGAGGAGGGTCTGTAGGACCTGAGGCTCCTTGGCAGGGCTCCTGCAGAAGAGTGGTGGATTTCTTCTCACCTTGTTCTCTGCCTCCAGAGGATCATAGATGGCTTCATCTTGCTCCAGGGAATTTCATGGTGTTGTTCAGCACCTTTTTTAAGCTGCCCCAAACTCCTGTTCAAGCTTTCTATTTTGATGCTGAATGAAACCCCCTACCACTTTTGCAAATCCTGTGTAGTTGTCGGTGCCACCCCCATGCTGGGATAGAGAAAGTGTCTCCCAGGTCCTTTCCCCCAGACCAGTGACATAACATCCTGGGCTCAGAGTCCCATCCTCCCGGGAGGGAAAGCACCCAGGATGCCTGTGATTGGTTGGTCCTCCATGATGTTCCTGTTCATCTCCTCCTTTCTCCCAAAGCCAGATGTGAGAACGAGCACTGCACAGCAAGCCTTCAATGTGGGCACCATGTCCACAGAACAGAAGGCCACCCATGGCAAAGGCATGGCAGTGGTGGCGAGGGCACCAGCCTGCCTTCCGAGGCAAAGCCCTCTCTCTATGACTTTGAGTATCTTCCCTCCACCACTCAGCCGCCACCACTGAGACGTAGGAATGTGGAGGGAGGTGCTTGGTGGCCTTTGATTCTGGAAAAATGCTTAACAAAAAAAGCCAGCCAAAGAGAGGAAGGCATAAGCTAAGCATCCTTCTAACCAGTTCCCAAAGTCCCATCTGCCTCCATGTACCAGCTGATCGCAGAGCTGGACTGGGGCAGGCTGGGCTTCCAGGAAATTCCTGAAGTTCTGAAACAGCTTCCCCTCTAGAGAAGCCCACCCAATGTGTTTTTTAGTGACAGGAAGAAAGGAGGGAAGAGCTGATGTGGTGTGGCCTGCCCATATCATACAACCCCACCAGGAGCAGGGCAGTTCCCAAGGTGGGTGCCCGTAGATCTGGGAGGCCAGGCTGGCATGATTCCTGTGAAGAACTGTGCCTGTGTCGTCAGGGAGAGGCCTGAGCCCTCTCAGAAGCAGGGACAGCCCACACCTGAAGAGCACGCCCAAGCTGAGGCAGCAGCCAGCAGGCTGGGGGAGCAGTGAGGGCAGGGGGAGTCACAGCCAGAGCTGGGAGCCCCTTGTTCAAGGATTCCATTCCTGGTTCATCCGCCTAATTACCATTGTCATTACCACTCACAGGAGGCTCTGGGAGATGGGAGGGGAAGCCAAATGCTTCCTTTTAAGCTGGGCTTCTTAGAAAATGGAACTTTTATGGGTTACATTTACATTAAGTGTGGAAAATGAATTCTGAGTCTGAGCTATTCCCCGTGGAAACCTTGTTGGACTGATAAGCTCATGGCACCTCTATAGCCTTACTCACATAGTCTTCAGAATATTACACAAGTTAATGAAACTGAGAAGGTCTGACTGCATGAGGATCGGAGCAGCATGTAGTCTGGGTTCTGCCTGGCAGAGGGAGGCAACCAAAACTTCTTGGGGAGAGGAGATTTCGCCTTAACGTCATCCCACTGGGATTAGAGGATGTGTTTCGCTAAGTGCTCTTCCTGTTTCCAAAAAAAAAGCCACCCTGCTGCAGCAGTGCGCTTTGGCCTGCTTGTCCACTGGTTGCCCATTGCCCCTGGATCCAGAGCTCTACTGAGTCAGATACAGTGCTCTGCAGGCCTGCTGTGGGAGGCATGAGCTGGAGATGGGGGCTCCCATCTGGCAGGATCATTCTTGGATGAGATGGAAAACAGTTTGGCCTGAAGAACACAAGTTTTGTCCTCCAGAAGGGACTTACGCCTCTCAAAATGTACTCTTCATACCAAGGGCCCTTGGGCAAAGTGCTCCTGCCCAGTTGATCAGTCCCATCCTGGCTGCCTGACATCAGTGAAGACCTGCTGGGGATGTCTGCTCAGAGGTCAGGAACGGCATGCGGTCCACAGGAACCAGCTCCCTACGCTTCCCCCACGCCCTGTCCCTCCTCCACAGCCCCCTCCCCAAAGGAATAGGGTGGACTTTTAGGGATCAAAAACAGAATTATTGGGTGTTTCATTTATTTTTTTCTTTCTTTCTTTTTTTTTTCATAGAGATGGGGTCTCACTATGTTGCCCAGGCTGTTCTCAAACTCCTGGCCTCAGGCGATCCACCTTGGCCTCCTGAAGTGCTGGGGTTACAGGTGTGAGCCACTGCGCCTGGACTGAGTGTTTGTTTCTTTAAAGGATCTTATATTTTTCCTGTGCTACATACCACCACAGCAGCCCAGCTTCTGTGGGGAGAGAAGTTGAAGGATCCCGAAGCTTTAGAAAAAGGATCTCAGCTGTGGCACAGGCAGTGTTATGCGCCTCACTGCCACATTGGTGCTGTTGTATTGAAGGTGGTGCTTCTGGCCTTGGCCCTTTTGAGTTGGTTTCCATTTGGGCTGCAGGTGACTCAGTGACTCCCTCCTCAAGCTGTCCTCCTGCTAAGACCAGCAGTCACAAACCCATGGCAAGGGTGAGTGTGAAGGCCTAACCCTGTGCCTATGTAATAGGCTCCAAGCATCGACTCCCATCCTGAGAGGACCGGCCCTTTTGACACTCACCAACCAAATCTGTTCATTCGATAGAGTGACCAGGCCTCCCTCACCTGCCCAGGTGTATGATCCTACAGTTCCTGCCTTCTCTCCTACCCCGCACAGCTGCCAACTGGTCCTACATCCTCAGCCCCTCTGCCACCACCTTAAATAGGACTTTACTGATTCCCCAACTTTGTTTTTTTGTAGGATGAGATTTCCTTTTTATCCCACCCCCCCACACCCCAAACAGACATTGCTGGAGGGCAGACTGGAGGAAGGGGAAGGCATGCAGGTAAATTACTGCCTTGTCAGCCTCTGACCCTCATCTCTCAGAATTGTTGGCTGAGAATTAACCCAAGGACCACACCAGTGCCTGATTTCTACTTAGGGAGAGAGGATTGGAAACGATCCCTAAGAAACTGACTGAGGGTGAGAATGGCCAGGAGGTGTGTGTCCAAATAACCAGGAGGGGGCACAGAAGATGATGGCAAGGCAGACTGGGCAGTGTTTTGTAGACACAGAACAAAGAATCAGAATTTGAAAAAAGAAGAAAAACAAATCTTCGCAGCTGCAACTTTAAAGTATCACCTTTATAGATGGCAGGGATTTCCATTATGCAAATGGAATCTAAGATTTCAATGTGAAATCTTAGAATGCAGTTTTACCACTTGCAGTCTTGTATTTGTGGTGGCCATGTGGTGAGGGCGGTGATGCTGAGCTTTCTGCCCAGGAGGAATGAGCTTTCAAGCTCTCAGCAGGGTGTCAGGCTTGGGGATTTGAGCATCCACTGCTCAAAGTCCAGGCTATTCTCCAGTCCTCACGGCAGCCACTAAGCCCAGGAGCCAGACCTGGCCCGGGGACACATCTCCTGAGGGATCCCAGAAAGAACCCAGTCTTTCCTTTCCCTTGGGGTCCTTGTTAGAATGAAAACCTCTCTATTTAAGGCACATCATTCCCAGCTAGGTTTATACACTTGTCTATATTTTACTGGAGGAAAGGGAATTAAAAAAGAACTCTGCAGTTCAAGGCCCTTTCATTTAACCTTCCAAAAACAGCAAACTCATTTTAAAGACTCATTGCTGAGGTGATAGAGAGAAACCTTATCCTCTCCAACCTTCACATTCACAAAAACCATCCTTGTGTACTTGACTGCCCTAGACAGTGGTGACTCTTAGGTTTCATTACGAATGTGGAATATCAGAGTGTGGGAAGGCCCAGGCGAGGGCCAATGTTGTGTTTCTTACCCCCTCTGGAATGCCAAAGGCAAGGTACTAGGTGACCTCCTGGTCCCCAAGAAAATGTGATTTATTCTGAGGGCGAACAGCCAAGGGAGGACTAGTCTGGAGCACGCTCGGCCGTCCTGGCAGGAGCTGAGCCTCAGGTGTCTGGCGGTGCCCCAGCAGCCCTGGATTCACCCAACACCAGAATCCCACTTTTCTAAATCCACCTGTTGTTCTGAGCACCTCTGAACCCGCAGCTTCGGCAAAAGGAGTCTGTACCAAGCTGCTTCTGGATGACCAACACTGGAGACTCTGGCCTTACCATGTGGAAATCATTTTCCTGAAGTCTGGAACTAATTTTGAGAAGTTTTTTTCTCAACACTTTTGTGTTTCTAACACTGTATCTTGACTGTGTAAATACCAACAAGGCTGTAAATAAATGCAGATGTAGATACCTTCTAGAAAAAAAAAAGCATAAAAACAAAACCAGAAGTGATCCCGTGTAGCCTTCGTTGACAAATAAAGACTATTTTGTGTTTACAGGTGTCTGGTGGCCTTTGCTTGGAGATAAAGGCTTCCTCTTGCCTGTCCCAGCCCCCGAGCCATCCTGGGTTTGCACTTCCCTGCTGGCTGCTATCAGGATGACCTGGGAGAGGACTCAGTCCTAGGCCCCAGGGTCCCTCTAAATCCCTCCAGGCTGCAGCTCTGTCAAGAGGGATGTCCAGAGGGTCTCTAAGACCCTGAAGCTTGACTTTGCAATTGCATGACAGGAATAAATATCACAGCTCCTCTGACATCACTAGTGCAGCGTGGCTCCCCATCCCACTGCTGCCCTCGTTCAGGGACAGGCTGAAGGGGCCAACGAACCCAACCCTCCCAGAGGAGGGAGCCTTGCTCCACCACTGGGCACACAGAGTCATCCACCATGCCACTGCCTTCCACAAGGGATGTGAGCCGTTGCACTTTAAAAATAAATGACTGTATATTCATCATA)$ . 11BR015 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51878389 chr19:51855967 CDS/splice-site intergenic deletion/read-through 1 2 0 116 68 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGAT)GTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAGACCATCAGCCTTCAACCACCACCCTTGTATCAGAGGAGACAAATAAGCTTGGAAATCCTCAAAAAGCCTCATCCTCAGA MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSI|dlhyrwktaasepq* 11BR015 ENSG00000132434.9 ENSG00000237633.4 +/+ +/+ chr7:55366229 chr2:16529339 CDS/splice-site exon/splice-site translocation 0 2 0 16 2 medium out-of-frame . . . . ENSG00000132434.9 ENSG00000237633.4 ENST00000254770.2 ENST00000648675.1 downstream upstream . ^(GGGCTGGCGCAGCAGGGGCCGGTGAAATGCAGGCTGACGACGGCGCGCCAGGGGCTGAGCTCGCCCCGGTCGGCGACGCGCACACACCTTGAGTGACAGCGACCTCTTCTCTACAGGTTTTCCCCGCGGGAGCGTGGCCCTAGCGGGCGTTCGGTTTTCTTTGGAAATCGCGGAGGGGGCTGGCCGGGCGCAGCGATCCCCACCCCGGGACTCCAGCCCCGGCCGTGCGCGTCGCCGCGGACGGGCTCTGCGGGCCACGGGGAAGGTGCGAGGAGGCGCGAGCAGGCTGTGAGCCGCTGGGCGCTCCCGCGAGCCCGCTCCTCTCCGTCGGGAGCAGGGCAAAGGCGCCAGGAACAGGGCAGAGGCACAGCGCCCACCGCCTCTGCGGCCGCCTGATGTGCGAGCAGCCCGCGACGAGGCAGTGCACGCTCAGACGCCCCGCTCCTCCCGCCAGCGCGCGGCCTCGCTCCTCCTAGAGGACGCTCTCTGCGCGGGCCCTCGGAGGAGGCGGCGGCGGGGCGAGCTGCAGCGCCGGGACAGGAGGTTTGTCCCCGCCCGCGCGCCGTACCGCGGCGGAGATGGGCGAGACCATGTCAAAGAGGCTGAAGCTCCACCTGGGAGGGGAGGCAGAAATGGAGGAACGGGCGTTCGTCAACCCCTTCCCGGACTACGAGGCCGCCGCCGGGGCGCTGCTCGCCTCCGGAGCGGCCGAAGAGACAGGCTGTGTTCGT)CCCCCGGCGAaCACGGATGAGCCCGGCCTCCCTTTTCATCAGGACGGGAAG|ATCCATGGATATTTGAAATGGCCTTGAAAAATATGGGAACTGTATGGAGCATCTGGAAAGCATCTGTG(GAAGAATTACAGCAAAAACTTCTACAATTCAA___GGTTATCATTTCTGTCTAGATAAGAAGTTTCTCTATCAG___GACTAGCTAACTGACTTTTGATCAAGACAACAGCCTGATTTCTCATCTGGACTCCTGGCAGAGCAGCCGCAAACTGTAGGCTGTGTCCACAGAAGTTGAAAACATCCTGACAG___ATGTTGTTAAAGGACTCCAGTAGCAAAGATCAAAGTCTCCGAATTTTGCCTTTGGAGAAGGGGGTTTCATTTCAGACATCAAAG___AAATCCAACGCAGAAATGACCAACAGGTTTTCCTACCCCCTCAGGCTGGTGAGCTGTTCCTCTGGGCTTCTAGAGGATTCTGTATGACTGCAATCATTATCAATTTTCATACTATTTGCAATTGTACATTTCACTTGCCTGGCTTTAGGGACAAAGACTTGAGACTTTGATCTTGCCTTGTACTATGGAGCCAAATGCAGGGCCTTCCATCCACTCAGTGCTCAGTTTCCATGTCTATGTCTATGTTGGACATGTCTATGTCCAAGTCTATGTCTCAGTTGAGATTTACTGAATAAAATCTGAATAATTTTATGCCA)$ MGETMSKRLKLHLGGEAEMEERAFVNPFPDYEAAAGALLASGAAEETGCVRPPAnTDEPGLPFHQDGK|ihgylkwp* 11BR015 ENSG00000254111.3(15127),ENSG00000254290.1(16720) ENSG00000183684.8 ./+ -/- chr8:37580760 chr17:81888745 intergenic intron translocation 1 0 1 62 9 medium . . |C-terminal_duplication_domain_of_Friend_of_PRMT1(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%) . . . ENSG00000183684.8 . . downstream downstream . CCCCACCCAAATCTCATTTTGAGTTGTAGCTCACATAATTCCCATGTGTCGTGGGAGGGACCCGGTGCAAGGTAATTGAATCATGGGGTCACGTCTTTCCGGT|TTTGTTCTCCCACCAGTATCTCCAGGCCATTTCCCTTGTCGGGGGCATTTGAGACGCACAGAGGCCCTTTCCAGTGTTTGCATGGAGACCAGGGTG . 11BR016 ENSG00000183337.17 ENSG00000169297.8(172682),ENSG00000120280.6(76737) -/- ./- chrX:40077844 chrX:30482072 CDS/splice-site intergenic deletion 84 105 4 397 304 high out-of-frame . . . . ENSG00000183337.17 . ENST00000378455.8 . upstream downstream duplicates(15),inconsistently_clipped(1),mismappers(8) ^(GGTATTTCCGAAGCTGGCCAGGCCCTCTGCTGCTGACCCTGGAAATCGGGTCACACTAGACAAGGCTGCATGTGCGGGGAGAAGGCGGGGGGGCTCCTTTGCACGCGGCTGCTCGCGTTTCCCCAAGGCCTCCAAATAGTCTAAAAACTCACCTCGGAGGAGGAGAAAGAGCGTGAAGTGGCTCTTTCGATCTGAGACACCCCCTCCCGGAGAACTCGCCCCCTCCCCCCCAGCCCAGAGCGGAGTGAAATCTTAGAAGCCGTGGCTGCTGGGTTTGAACGGAATGCTGGAGTCAGTGGAAGACGGAGCTGGTCGGCCCGAAG___)ACTAGACGCTTGAAGCAAAGCTGCCATCCCAGAAGACGACATGCTCTCAGCAACCCCCCTGTATGGGAACGTTCACAGCTGGATGAACAGCGAGAGGGTCCGCATGTGTGGGGCGAGCGAAGACAG|GCTGGAGTGCAGCAGTGTGATCATAGCTCACTGCCCCTCAAACTTCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCGGAGTCACTGGGATTACAGGTACCAG___GCAAGAATACCCACATCAACAATTGGAAGCAGTCTCGTGGAGTGCTGTGGAAAGGCGGTGGATGAAGATTGACTTGGGAACTTTCTCTTCATTGTTAATCTGTTTTTTTTTTTAAATCCTGCGTATTATTATCTAAC...___CTAAACTCAGCCAAGATACCAGAGAGCAAGAGGGCCTATGGTGAAGAAAGGATCAGAGTGGATCTGGTGGGGCAGATGGAGCTTATCCAGTACAG___GTATATCTTTATG MLSATPLYGNVHSWMNSERVRMCGASEDr|lecssviiahcpsnfwaqvillpqppeslglqvpgknthinnwkqsrgvlwkggg* 11BR016 ENSG00000143153.13 ENSG00000285622.1 +/+ -/+ chr1:169127312 chr1:169098855 CDS intron duplication/5'-5' 31 52 1 670 88 high out-of-frame . Sodium_/_potassium_ATPase_beta_chain(100%)| . . ENSG00000143153.13 ENSG00000285622.1 ENST00000367816.5 . downstream upstream duplicates(4),mismatches(1) ^(GCCCACAAGGGGCACAGCCGGGCAGTCAGGAACCGGGGCTGCCGGCTGGGCTGGCCTGCAAAGAAGAGGGAAGGGCCGGAACTGCAACCGCAGTGGCGGGGAGTGCGAGGGGGCGGCAG___AGGTCAGGGGAGGCGGGGGCCCAGCACACGTCCCCAGTGGCAGCGGGAGCGGCAGCTACGGGTTCGCGGAGCCCCCGACCCCCCAAGGGCTAGAGGAGCGCTCGGCGGACCAAAGAAAGCCCGCGAGCGGCTGCGCGCCCACCAATAGGTGCGGGGCTCGGAGCCGCGCAGCCTGCGCCGTCCCTCCCTCCGCCCCCGCCCCGCCGCCGCCGCCGCCGCCGCCTCCCCCTCCTCCTGCTCCTGCCTTGGCTCCTCCGCCGCGCGTCTCGCACTCCGAGAGCCGCAGCGGCAGCGGCGCGTCCTGCCTGCAGAGAGCCAGGCCGGAGAAGCCGAGCGGCGCAGAGGACGCCAGGGCGCGCGCCGCAGCCACCCACCCTCCGGACCGCGGCAGCTGCTGACCCGCCATCGCCATGGCCCGCGGGAAAGCCAAGGAGGAGGGCAGCTGGAAGAAATTCATCTGGAACTCAGAGAAGAAGGAGTTTCTGGGCAGGACCGGTGGCAGTTGGT___TTAAGATCCTTCTATTCTACGTAATATTTTATGGCTGCCTGGCTGGCATCTTCATCGGAACCATCCAAGTGATGCTGCT)CACCATCAGTGAATTTAAGCCCACATATCAGGACCGAGTGGCCCCGCCAG___GATTAACACAGATTCCTCAGATCCAGAAGACTGAAATTTCCTTTCGTCCTAATGATCCCAAGAGCTATGAGGCATATGTACTGAACATAGTTAGGTTCCTGGAAAAGTACAAAGATTCAGCCCAGAGGGATGACATGATTTTTGAAGATTGTGGCG___ATGTGCCCAGTGAACCGAAAGAACGAGGAGACTTTAATCATGAACGAGGAGAGCGAAAGGTCTGCAGATTCAAGCTTGAATGGCTGGGA|CAAAGGGTATCTCTTCTCTAAATTCCCATTGTATCTCGTTTGTGATATTCATTGTGAAACACAATCATTTAGCACCTTGCATTGTTGTTCACTCATTTCTGTGTATTTTGCTCCCAAACCAGAATGTTTGCTGCTAAAATGTCCAGACTACATCTCAGATGTCATGTTCTTTGTTACCCCCGCAGTTTCTAATATAATACTATACACACAGTAGGCC MARGKAKEEGSWKKFIWNSEKKEFLGRTGGSWFKILLFYVIFYGCLAGIFIGTIQVMLLTISEFKPTYQDRVAPPGLTQIPQIQKTEISFRPNDPKSYEAYVLNIVRFLEKYKDSAQRDDMIFEDCGDVPSEPKERGDFNHERGERKVCRFKLEWLG|qrvsll* 11BR016 ENSG00000145901.15 ENSG00000197043.14 -/- -/- chr5:151080880 chr5:151128239 5'UTR/splice-site CDS/splice-site duplication 24 50 0 91 457 high out-of-frame . |Annexin(100%) . . ENSG00000145901.15 ENSG00000197043.14 ENST00000389378.6 ENST00000354546.10 upstream downstream duplicates(3),mismatches(1) ^(AGTCTCCGGGGACTTTCCCAGGGGTGGGGCGGCCCGGCCAGGCCCCCGGCACTTCCTCGTCCTCGG)CCCGGGTGCCCTGCCCCCGTCCAGGAGCCCTAGGAGTGCTACGGGGGGCCGGAGCCTTGCCCGGGCCGCTGCCCCGTCCCTGGATTCGGGGCTGGACGCAGCAAGCGGGGCGCTGTGTCCCCAAGCTCCCCGTCCTCGG|AATGACACCTCTGGCGAGTACAAGAAGACTCTGCTGAAGCTGTCTGGGGGAGATGATGA___TGCTGCTGGCCAGTTCTTCCCGGAGGCAGCGCAGGTGGCCTATCAGATGTGGGAACTTAGTGCAGTGGCCCGAGTAGAG___CTGAAGGGAACTGTGCGCCCAGCCAATGACTTCAACCCTGAC(GCAGATGCCAAAGCGCTGCGGAAAGCCATGAAGGGACTCG___GGACTGACGAAGACACAATCATCGATATCATCACGCACCGCAGCAATGTCCAGCGGCAGCAGATCCGGCAGACCTTCAAGTCTCACTTTGGCCGG___GACTTAATGACTGACCTGAAGTCTGAGATCTCTGGAGACCTGGCAAGGCTGATTCTGGGGCTCATGATGCCACCGGCCCATTACGATGCCAAGCAGTTGAAGAAGGCCATGGAG___GGAGCCGGCACAGATGAAAAGGCTCTTATTGAAATCCTGGCCACTCGGACCAATGCTGAAATCCGGGCCATCAATGAGGCCTATAAGGAGG___ACTATCACAAGTCCCTGGAGGATGCTCTGAGCTCAGACACATCTGGCCACTTCAGGAGGATCCTCATTTCTCTGGCCACG___GGGCATCGTGAGGAGGGAGGAGAAAACCTGGACCAGGCACGGGAAGATGCCCAG___GTGGCTGCTGAGATCTTG___GAAATAGCAGACACACCTAGTGGAGACAAAACTTCCTTGGAGACACGTTTCATGACGATCCTGTGTACCCGGAGCTATCCGCACCTCCGGAGAG___TCTTCCAGGAGTTCATCAAGATGACCAACTATGACGTGGAGCACACCATCAAGAAGGAGATGTCTGGGGATGTCAGGGATGCATTTGTGGCCATTG___TTCAAAGTGTCAAGAACAAGCCTCTCTTCTTTGCCGACAAACTTTACAAATCCATGAAG___GGTGCTGGCACAGATGAGAAGACTCTGACCAGGATCATGGTATCCCGCAGTGAGATTGACCTGCTCAACATCCGGAGGGAATTCATTGAGAAATATGACAAGTCTCTCCACCAAGCCATTGAG___GGTGACACCTCCGGAGACTTCCTGAAGGCCTTGCTGGCTCTCTGTGGTGGTGAGGACTAGGGCCACAGCTTTGGCGGGCACTTCTGCCAAGAAATGGTTATCAGCACCAGCCGCCATGGCCAAGCCTGATTGTTCCAGCTCCAGAGACTAAGGAAGGGGCAGGGGTGGGGGGAGGGGTTGGGTTGGGCTCTTATCTTCAGTGGAGCTTAGGAAACGCTCCCACTCCCACGGGCCATCGAGGGCCCAGCACGGCTGAGCGGCTGAAAAACCGTAGCCATAGATCCTGTCCACCTCCACTCCCCTCTGACCCTCAGGCTTTCCCAGCTTCCTCCCCTTGCTACAGCCTCTGCCCTGGTTTGGGCTATGTCAGATCCAAAAACATCCTGAACCTCTGTCTGTAAAATGAGTAGTGTCTGTACTTTGAATGAGGGGGTTGGTGGCAGGGGCCAGTTGAATGTGCTGGGCGGGGTGGTGGGAAGGATAGTAAATGTGCTGGGGCAAACTGACAAATCTTCCCATCCATTTCACCACCCATCTCCATCCAGGCCGCGCTAGAGTACTGGACCAGGAATTTGGATGCCTGGGTTCAAATCTGCATCTGCCATGCACTTGTTTCTGACCTTAGGCCAGCCCCTTTCCCTCCCTGAGTCTCTATTTTCTTATCTACAATGAGACAGTTGGACAAAAAAATCTTGGCTTCCCTTCTAACATTAACTTCCTAAAGTATGCCTCCGATTCATTCCCTTGACACTTTTTATTTCTAAGGAAGAAATAAAAAGAGATACACAAACACATAAACACA)$ 11BR016 ENSG00000145901.15 ENSG00000197043.14 -/- -/- chr5:151087085 chr5:151128239 5'UTR/splice-site CDS/splice-site duplication 4 44 0 30 457 high . . |Annexin(100%) . . ENSG00000145901.15 ENSG00000197043.14 ENST00000315050.11 ENST00000354546.10 upstream downstream duplicates(1) ^AGTGAGCCGAGGAGCCTTCATAGGGACAGCCGCCCCTGGTGCACACACCCTCGTATTCTCCTGCCCTTCCCCAG|AATGACACCTCTGGCGAGTACAAGAAGACTCTGCTGAAGCTGTCTGGGGGAGATGATGA___TGCTGCTGGCCAGTTCTTCCCGGAGGCAGCGCAGGTGGCCTATC(AGATGTGGGAACTTAGTGCAGTGGCCCGAGTAGAG___CTGAAGGGAACTGTGCGCCCAGCCAATGACTTCAACCCTGACGCAGATGCCAAAGCGCTGCGGAAAGCCATGAAGGGACTCG___GGACTGACGAAGACACAATCATCGATATCATCACGCACCGCAGCAATGTCCAGCGGCAGCAGATCCGGCAGACCTTCAAGTCTCACTTTGGCCGG___GACTTAATGACTGACCTGAAGTCTGAGATCTCTGGAGACCTGGCAAGGCTGATTCTGGGGCTCATGATGCCACCGGCCCATTACGATGCCAAGCAGTTGAAGAAGGCCATGGAG___GGAGCCGGCACAGATGAAAAGGCTCTTATTGAAATCCTGGCCACTCGGACCAATGCTGAAATCCGGGCCATCAATGAGGCCTATAAGGAGG___ACTATCACAAGTCCCTGGAGGATGCTCTGAGCTCAGACACATCTGGCCACTTCAGGAGGATCCTCATTTCTCTGGCCACG___GGGCATCGTGAGGAGGGAGGAGAAAACCTGGACCAGGCACGGGAAGATGCCCAG___GTGGCTGCTGAGATCTTG___GAAATAGCAGACACACCTAGTGGAGACAAAACTTCCTTGGAGACACGTTTCATGACGATCCTGTGTACCCGGAGCTATCCGCACCTCCGGAGAG___TCTTCCAGGAGTTCATCAAGATGACCAACTATGACGTGGAGCACACCATCAAGAAGGAGATGTCTGGGGATGTCAGGGATGCATTTGTGGCCATTG___TTCAAAGTGTCAAGAACAAGCCTCTCTTCTTTGCCGACAAACTTTACAAATCCATGAAG___GGTGCTGGCACAGATGAGAAGACTCTGACCAGGATCATGGTATCCCGCAGTGAGATTGACCTGCTCAACATCCGGAGGGAATTCATTGAGAAATATGACAAGTCTCTCCACCAAGCCATTGAG___GGTGACACCTCCGGAGACTTCCTGAAGGCCTTGCTGGCTCTCTGTGGTGGTGAGGACTAGGGCCACAGCTTTGGCGGGCACTTCTGCCAAGAAATGGTTATCAGCACCAGCCGCCATGGCCAAGCCTGATTGTTCCAGCTCCAGAGACTAAGGAAGGGGCAGGGGTGGGGGGAGGGGTTGGGTTGGGCTCTTATCTTCAGTGGAGCTTAGGAAACGCTCCCACTCCCACGGGCCATCGAGGGCCCAGCACGGCTGAGCGGCTGAAAAACCGTAGCCATAGATCCTGTCCACCTCCACTCCCCTCTGACCCTCAGGCTTTCCCAGCTTCCTCCCCTTGCTACAGCCTCTGCCCTGGTTTGGGCTATGTCAGATCCAAAAACATCCTGAACCTCTGTCTGTAAAATGAGTAGTGTCTGTACTTTGAATGAGGGGGTTGGTGGCAGGGGCCAGTTGAATGTGCTGGGCGGGGTGGTGGGAAGGATAGTAAATGTGCTGGGGCAAACTGACAAATCTTCCCATCCATTTCACCACCCATCTCCATCCAGGCCGCGCTAGAGTACTGGACCAGGAATTTGGATGCCTGGGTTCAAATCTGCATCTGCCATGCACTTGTTTCTGACCTTAGGCCAGCCCCTTTCCCTCCCTGAGTCTCTATTTTCTTATCTACAATGAGACAGTTGGACAAAAAAATCTTGGCTTCCCTTCTAACATTAACTTCCTAAAGTATGCCTCCGATTCATTCCCTTGACACTTTTTATTTCTAAGGAAGAAATAAAAAGAGATACACAAACACATAAACACA)$ . 11BR016 ENSG00000090316.16 ENSG00000286069.2 +/+ +/- chr4:1289982 chr12:53849045 CDS/splice-site intron translocation/5'-5' 5 27 0 89 36 high out-of-frame . . . . ENSG00000090316.16 ENSG00000286069.2 ENST00000303400.9 . downstream downstream duplicates(1) ^(GCTAAT)GTTTTGGCCGCTTCAAGATGGCGGTGCAGGAGTCGGCGGCTCAGTTGTCCATGACCCTGAAGGTCCAGGAGTACCCGACCCTCAAG|TTCTGCTGCTCTGTGGCCTTGAGGAGCTTCTTCCTGTCCTCTCATCTCTTCACCTTGTTCTGGGGTAAATCATCTCTGGACCGCCTTACCTGCTGAGCAGCTCACTGGAGACCACACCGTGGAGGCACACCACACAGAACAGCCAAACTCCCCAGGCCACAACCAGGCTACACCTCCTGAAAGACAACTGGAGAACCAAAGAGCATCAGTCTTTGTGGCCTCCCTGTACCATCTCCTCCTACCATCAGAGCATACCAGAGCCTCCAAACTCTTCTTGGGTAGTGTCAGAACCTGC MAVQESAAQLSMTLKVQEYPTLK|fccsvalrsfflsshlftlfwgkssldrltc* 11BR016 ENSG00000170421.12 ENSG00000063046.17 -/- +/- chr12:52898461 chr12:53014943 CDS/splice-site intron duplication/5'-5' 29 1 0 1421 37 high out-of-frame . Intermediate_filament_protein(100%),Keratin_type_II_head(100%)| . . ENSG00000170421.12 ENSG00000063046.17 ENST00000552551.5 . upstream downstream . ^(ATGCTGTCCACTTCCTCTGTAAAGCTCTCAACCCTGTCCCCTTCCCCCTCTCTCCTGGGAAAGAGCCCTCCCATGCCTAGCTGCTGCTCTTAGGGACCCTGTGGCTAGGTGCGCGGATGGAAATCCAGGTATGCCCAACCCCCTCCCGGTGGAGTAGGGGTTGGGTGGTTATGGAATGACGGAAAGAGGCAAAGGAGTGTATAATTGGAGGGTCAGACAAGGCTGGGAGTTGAGGTCCCTCCTACCCCTTACCTGAGCCCTCAGGTCCTCGATGATCTTGAAGTAATGGCTCCAGTCTCTGACCTGGGGTCCCTTCTTCTCCAAGTGCTCCCGGATTTTGCTCTCCAGCCTCCGGTTCTCGGTCTCCAGGCTCCTCACTCTGTCCAG___GATCTCCGCCTGGTTCGGCCCGCCTGCCTCCACTCCTGCCTCTACCATGTCCATCAGGGTGACCCAGAAGTCCTACAAGGTGTCCACCTCTGGCCCCCGGGCCTTCAGCAGCCGCTCCTACACGAGTGGGCCCGGTTCCCGCATCAGCTCCTCGAGCTTCTCCCGAGTGGGCAGCAGCAACTTTCGCGGTGGCCTGGGCGGCGGCTATGGTGGGGCCAGCGGCATGGGAGGCATCACCGCAGTTACGGTCAACCAGAGCCTGCTGAGCCCCCTTGTCCTGGAGGTGGACCCCAACATCCAGGCCGTGCGCACCCAGGAGAAGGAGCAGATCAAGACCCTCAACAACAAGTTTGCCTCCTTCATAGACAAG___GTACGGTTCCTGGAGCAGCAGAACAAGATGCTGGAGACCAAGTGGAGCCTCCTGCAGCAGCAGAAGACGGCTCGAAGCAACATGGACAACATGTTCGAGAGCTACATCAACAACCTTAGGCGGCAGCTGGAGACTCTGGGCCAGGAGAAGCTGAAGCTGGAGGCGGAGCTTGGCAACATGCAGGGGCTGGTGGAGGACTTCAAGAACAA___GTATGAGGATGAGATCAATAAGCGTACAGAGATGGAGAACGAATTTGTCCTCATCAAGAAG___GATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAG___GAGATCCGGGAGCTGCAGTCCCAGATCTCGGACACATCTGTGGTGCTGTCCATGGACAACAGCCGCTCCCTGGACATGGACAGCATCATTGCTGAGGTCAAGGCACAGTACGAGGATATTGCCAACCGCAGCCGGGCTGAGGCTGAGAGCATGTACCAGATCAAGTATGAGGAGCTGCAGAGCCTGGCTGGGAAGCACGGGGATGACCTGCGGCGCACAAAGACTGAGATCTCTGAGATGAACCGGAACATCAGCCGGCTCCAGGCTGAGATTGAGGGCCTCAAAGGCCAG___AGGGCTTCCCTGGAGGC)CGCCATTGCAGATGCCGAGCAGCGTGGAGAGCTGGCCATTAAGGATGCCAACGCCAAGTTGTCCGAGCTGGAGGCCGCCCTGCAGCGGGCCAAGCAGGACATGGCGCGGCAGCTGCGTGAGTACCAGGAGCTGATGAACGTCAAGCTGGCCCTGGACATCGAGATCGCCACCTACAGGAAGCTGCTGGAGGGCGAGGAGAGCCG___GCTGGAGTCTGGGATGCAGAACATGAGTATTCATACGAAGACCACCAGCGGCTATGCAG|AACTTCCGAGAAGTCACCACCAATCAAGAGCTGATTCAGAAGAGCAGAGGGACTCAGTGAAGTTCCAGAACTGGCCTGATAGCAGCCACTACATGATTAAGAAAAAAACAAGCAGCTTTGTTGTAAAAAAGATTGGCTTCATGGTTTcTATAATCATGAATTTCTCCTCCATGTTCCAATTGTCA MSIRVTQKSYKVSTSGPRAFSSRSYTSGPGSRISSSSFSRVGSSNFRGGLGGGYGGASGMGGITAVTVNQSLLSPLVLEVDPNIQAVRTQEKEQIKTLNNKFASFIDKVRFLEQQNKMLETKWSLLQQQKTARSNMDNMFESYINNLRRQLETLGQEKLKLEAELGNMQGLVEDFKNKYEDEINKRTEMENEFVLIKKDVDEAYMNKVELESRLEGLTDEINFLRQLYEEEIRELQSQISDTSVVLSMDNSRSLDMDSIIAEVKAQYEDIANRSRAEAESMYQIKYEELQSLAGKHGDDLRRTKTEISEMNRNISRLQAEIEGLKGQRASLEAAIADAEQRGELAIKDANAKLSELEAALQRAKQDMARQLREYQELMNVKLALDIEIATYRKLLEGEESRLESGMQNMSIHTKTTSGYA|elprshhqsradseeqrdsvkfqnwpdsshymikkktssfvvkkigfmvsiimnfssmfql 11BR016 ENSG00000134317.18 ENSG00000240687.2 +/+ +/+ chr2:9965381 chr2:9712204 CDS/splice-site exon/splice-site duplication 13 14 0 218 37 high out-of-frame . . . . ENSG00000134317.18 ENSG00000240687.2 ENST00000324907.14 ENST00000669600.1 downstream upstream . ^(AGAGCGAGAAAAGCAAACCCAACCCGTCGGGGCCGCCGCTCCGGACCCGCAGCCGCCGCCGCCGCCTCCTCCCCCCGGATCGGGTGTACTGTCCCAACCCGAAAGTCCAGTTCTGCGGCCCGGCAGCGGCGAGCGGGCGCGATGACACAGGAGTACGACAA___CAAACGGCCAGTGTTGGTTCTTCAGAATGAAGCACTTTATCCACAGCGGCGGTCCTACACTAGTGAGGATGAGGCCTGGAAATCCTTCCTGGAAAACCCTCTCACTGCAGCGACCAAAGCGATGATGAGCATCAATGGAGATGAAGACAGCGCCGCTGCGCTGGGCCTGCTCTATGACTACTACAAG___GTTCCAAGAGAGAGAAGGTCATCAACAGCAAAGCCAGAGGTGGAGCACCCTGAGCCAGATCACAGCAAAAG___AAACAGCATACCAATTGTGACAGAGCAGCCCCTCATCTCTGCTGGAGAAAACAGAGTGCAAGTACTGAAAAATGTGCCATTTAACATTGTCCTTCCCCATGGCAACCAGCTGGGCATTGATAAGAGAGGCCATCTGACAGCTCCAGATACGACAGTCACTGTCTCCATAGCAACGATGCCTACCCACTCCATCAAGACAGAAACCCAGCCACATGGCTTCGCTGTGGGAATCCCCCCAGCAGTGTATCATCCTGAGCCCACTGAGCGGGTGGTGGTTTTCGATCGGAATCTCAATACTGACCAGTTCAGCTCTGGTGCTCAAGCCCCAAATGCTCAAAGGCGAACTCCAGACTCGACCTTCTCAGAGACCTTCAAGGAAGGCGTTCAGGAG___GTTTTCTTCCCCTCGGATCTCAGTCTGCGGATGCCTGGCATGAATTCAGAGGACTATGTTTTTGACAGTGTTTCTGG___GAACAACTTTGAATATACCCTAGAAGCTTCAAAATCACTTCGACAGAAGCCAGGAGA)CAGTACCATGACGTACCTGAACAAAGGCCAGTTCTATCCCATCACCTTGAAGGAGGTGAGCAGCAGTGAAGGAATCCATCATCCCATCAGCAAAGTTCGA___AGTGTGATCATGGTGGTTTTTGCTGAAGACAAAAGCAGAGAAGATCAGTTAAGGCATTGGAAGTACTGGCACTCCCGGCAGCACACCGCTAAACAAAGATGCATTGACATAG___CTGACTATAAAGAAAGCTTCAACACTATCAGTAACATCGAGGAGATTGCGTATAACGCCATTTCCTTCACATGGGACATCAACGATGAAGCAAAG|GCCACAAAATGCATGGCACAGGGAAGGGTTTGACAACTTTTTGATGGATGAACAAAGAAGATTCAAGCCACTTGTCAACAAGCTCAAAGTGATTGAAAGTGGAAGCATTTACCCACACGCTCATGCAGAAAATGACAGGAAATCATCCAGAGACACTTGTGACAGAGAgGAGAACTGTCACTGTTGAGAGGTGCTGCGGAGATGGGTGTCCACGGATGACCGTTCGGAGGCCGACTTCGGGGATGTGGCCCCATTAGCTCAAGAGTGGGTGACTCCCTACCACACTGATGG(CGTTGGCCAGGACAGGACAAGCCTACTGCAGTGACACAGTGTCACTGATCCCTGATGCCCACGTGGGTGTTTTACTTTAGCTAATGCTGCAGAGATAATGCAGACAGAGAAATGAGGCCCCAGCGCTGAGCAGCCCAATCACCTGGTTGTAAGCAGCGAGTGTTTCTGGCTCTGCTCCTGGGCCCCAAACCACTGTGGGCTCACGAAGAATCTTTCAGAGTTGGAGTCAGAATGTCAGGGTTTGAGTGTAGTCTCCACCCCTTAATGACCTTGCATTGATAATTCTATTCCCCGAGCCTCATTTTACCCATCTATAAAATGAGGACAAATAGTTTATTTCCTGGTTACTTCACTAAGATGTTGTATCAAAAAAGAATATATGCAATAAAATGCTTTCCTAAGTAAAAAAA)$ MTQEYDNKRPVLVLQNEALYPQRRSYTSEDEAWKSFLENPLTAATKAMMSINGDEDSAAALGLLYDYYKVPRERRSSTAKPEVEHPEPDHSKRNSIPIVTEQPLISAGENRVQVLKNVPFNIVLPHGNQLGIDKRGHLTAPDTTVTVSIATMPTHSIKTETQPHGFAVGIPPAVYHPEPTERVVVFDRNLNTDQFSSGAQAPNAQRRTPDSTFSETFKEGVQEVFFPSDLSLRMPGMNSEDYVFDSVSGNNFEYTLEASKSLRQKPGDSTMTYLNKGQFYPITLKEVSSSEGIHHPISKVRSVIMVVFAEDKSREDQLRHWKYWHSRQHTAKQRCIDIADYKESFNTISNIEEIAYNAISFTWDINDEAK|atkcmaqgrv* 11BR016 ENSG00000176531.10 ENSG00000105755.8 -/- -/- chr19:43501734 chr19:43506902 CDS/splice-site CDS/splice-site duplication 12 13 0 28 240 high out-of-frame . . . . ENSG00000176531.10 ENSG00000105755.8 ENST00000292140.9 ENST00000292147.7 upstream downstream . ^(GGTGGGGCCGGGCCGGGGCCGGTGGGGCCGGGATGGCCGGATGCCGAGGCCACGGGTGGGGCAAGCCCGTGGCTCCCTCCTCCCTCGGGAGCTGTTGGACCTGTTGTCCCCCCTCCACTTCCGGGCTGCTGGGGAGGGGGACCGGGCGGCCTCTCTCCTCCCTCTTCCCCTGCCACCTGTCTCATAGGCAGAAGCGGCCGTGCCCAGCGCGCAGAGCGGAGCGCGCCGAAGCCTGAGCTCGTGAGGGGGCCGAGGCTGTGGGGAGGTGGCAGTTGGACTTCGGAATCTCAAGGACTCCGACTCCTGGCTTGTTCAGAGAAGGAGAGCCCCGACTCCTGGATCCCTGG___GAGTCCCAGCGGCCATGGGGACGCGAAGCAGCCCCGAGGAGGGGACCCCGCCGCCGCTGGTCCCGGAATGCGACGTGGAGGTCCAGCCCCAGGGCCATCCCGAGGAGTCCCGGGAACAGGAGGCATCCGAAGTCCTGGCGGAACCTTCGAGCCGCGGGGGAGCTGAGCAGCAGGCAGAGGAAGAAGAAGTGGGAGAAGGCAGCAGCACTGAGAGCAGCCGCGACGCG___CCCGAGGCTACGCCTCCGATAGCTATGGCGGCCACACCTCCCGCATCCACCTCTTCGCGGGAAGGGGTGCGAGGGGCGGCGCGGCGCCTGCAAGGACAGCAGCTGGAGGCATTGACTCGT)GTGGCCCTGATGGAGCAGCGAGTGAAGGAGCTACAGCGCCAGAGGAAGGAGCTGAGGATCGAG___ATGGAGGTGGAGGTGGCCTTGCTGCGGGGTGAGCTGGCTGGGGAGCGAGTGGCCGCTCGCCGGGAGGAGGAGCAGCTGCGGGAGCTGCTGGAGCAGCAGGCGGCCTCGGAGCAGCGCGGCCGCCAGCAGCGGGAACAG|ACTTTGCTGTTCCAGCCAACATGCGCTGTGGGGTGCAGACACCCACTGCCTGATCTCACTTCTGTCAGATGCTCCCATCCACTATTAATGCACTAGGTGGGAGGAGAGGGCGGCAATGACACTGCACCTCTCCTTTCCCACCGCATTCCCcGG(AGCTCCCTAAATAAAACTTTTTTTAACGTGA)$ MGTRSSPEEGTPPPLVPECDVEVQPQGHPEESREQEASEVLAEPSSRGGAEQQAEEEEVGEGSSTESSRDAPEATPPIAMAATPPASTSSREGVRGAARRLQGQQLEALTRVALMEQRVKELQRQRKELRIEMEVEVALLRGELAGERVAARREEEQLRELLEQQAASEQRGRQQREQ|tllfqptcavgcrhplpdltsvrcshpllmh* 11BR016 ENSG00000275895.7 ENSG00000275895.7(1903),ENSG00000280346.1(5858) -/- ./- chr21:6495993 chr21:6501159 CDS/splice-site intergenic duplication 12 12 1 737 102 high out-of-frame . Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%)| . . ENSG00000275895.7 . ENST00000610664.5 . upstream downstream . ^(GACGTCTCCCGCGGGCGTCGGCAGGGTCGGCGGCGTCGG)CAGCAGTGTCGACGGCAGCGGCGGCGGCGGGTGGGAAATGGCGGAGTATCTGGCCTCCATCTTCGGCACCGAGAAAGACAA___AGTCAACTGTTCATTTTATTTCAAAATTGGAGCATGTCGTCATGGAGACAGGTGCTCTCGGTTGCACAATAAACCGACGTTTAGCCAG|GTACTTCACAGCTGAGAGCCTCTTGCCAGCTTCCAACTCTCCAGCAGTCTTTGTTCCCAGACCGTGTCCTGAGGCTGCACTTTCTGGACATGCCCACCTGCTGGACTGGCATCTGTCTTGTCACTTCTCTGGCCTCACCTCTGCGAAAGGAACACAAAAGTCAGGACCCCAGTTCACTCTGTC MAEYLASIFGTEKDKVNCSFYFKIGACRHGDRCSRLHNKPTFSQ|vlhs* 11BR016 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 22 0 28 55 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismatches(1) GGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGAC(CTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR016 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 5 16 0 26 53 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream mismappers(1) CGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACCTTAGTTTCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCA(GCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 11BR016 ENSG00000171862.11 ENSG00000200891.1(21548),ENSG00000227905.1(31892) +/+ ./+ chr10:87952259 chr10:88016243 CDS/splice-site intergenic deletion/read-through 14 6 0 79 29 high out-of-frame . C2_domain_of_PTEN_tumour-suppressor_protein(100%),Dual_specificity_phosphatase__catalytic_domain(100%)| . . ENSG00000171862.11 . ENST00000371953.8 . downstream upstream duplicates(1) ^(GTTCTCTCCTCTCGGAAGCTGCAGCCATGATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCCTCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTCTTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCGCGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGGTCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGGCTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGGAGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTCGCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGCCAAGTCCAGAGCCATTTCCATCCTGCAGAAGAAGCCCCGCCACCAGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCTCCCAGACATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCT___ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAG___GTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCT___TTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAG___TTGCACAATATCCTTTTGAAGACCATAACCCACCACAGCTAGAACTTATCAAACCCTTTTGTGAAGATCTTGACCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTACATCGGGGCAAATTTTTAAAGGCACAAGAGGCCCTAGATTTCTATGGGGAA)GTAAGGACCAGAGACAAAAAG___GGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGACCAGTGGCACTGTTGTTTCACAAGATGATGTTTGAAACTATTCCAATGTTCAGTGGCGGAACTTGCA|TGGGCAGATGTATGCAAACCTATCCTAAAGTTCAAGGAAGCTGAGAGGCCGAAGAAAGAGGCTGACAAATCTAGcTTCTCAGAAAGAAACCTTTAACAGGGATTTAGGAACAGAAGCCATGTCTGGGTCTCAGACAGGGCAGGATGAGATG___ATGCCgTTTGGAGTAGCTACTTTGAGGACAAGAGACAAAAAGCCTGAGGAGAAAGTCACCATGAAGGAAAC MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRTRDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTC|mgrcmqtypkvqgs* 11BR016 ENSG00000086598.11 ENSG00000086598.11 +/+ +/+ chr12:123598039 chr12:123595413 3'UTR intron duplication 4 16 0 200 25 high stop-codon . emp24/gp25L/p24_family/GOLD(100%)|emp24/gp25L/p24_family/GOLD(100%) . . ENSG00000086598.11 ENSG00000086598.11 ENST00000262225.8 . downstream upstream . ^(GAGAAGGCAGCGGGGCGGCGGCGGCGGCGGCGGCGGCGGCTGTGGAGGCCGCAGTCCGGGTCCTGGCTTCGGCCTCAGCCCCACCATGGTGACGCTTGCTGAACTGCTGGTGCTTCTGGCCGCTCTCCTGGCCACGGTCTCGGGCTATTTCGTTAGCATCGACGCCCATGCTGAAGAGTGCTTCTTTGAGCGGGTCACCTCGGGCACCAAGATGGGCCTCATCTTCGAGGTGGCGGAGGGCGGCTTCCTGGACATCGACGTGGAG___ATTACAGGACCAGATAACAAAGGAATTTACAAAGGAGACAGAGAATCCAGTGGGAAATACACATTTGCTGCTCACATGGATGGAACATACAAATTTTGTTTTAGTAACCGGATGTCCACCATGACTCCAAAAATAGTGATGTTCACCATTGATATTGGGGAGGCTCCAAAAGGACAAGATATGGAAACAGAAG___CTCACCAGAACAAGCTAGAAGAAATGATCAATGAGCTAGCAGTGGCGATGACAGCTGTAAAGCACGAACAGGAATACATGGAAGTCCGGGAGAGAATACACAGAGCCA___TCAACGACAACACAAACAGCAGAGTGGTCCTTTGGTCCTTCTTTGAAGCTCTTGTTCTAGTTGCCATGACATTGGGACAGATCTACTACCTGAAGAGATTTTTTGAAGTCCGGAGAGTTGTTTAAAAAGCCTCTTCCTGATGATCCCAACTCAGAATTCACTGTTTACCAAACACCTTGGTCATAATAATGTCATTAGTTTCTCCATTTTTATTTTCTGAACTGTACATTCACAACTTATGTTTCTTTGAGATTAATAGATATTGGGGGAAAAACGCCTTTTTAGGAAAATTATAGTGAAAATTTGACAGTTGATTGGCATAATTTCTTGTTTGAATGCTGCCTCCATTATATAGGTCCTTCCAGGAACTCAAACACTGTAAGTGAAATATGGGAGTATAGTTTTTATTATTTCTTCTTTTCCTTTTGTTTTCATAATATAATGCAGTTTGTTCAGGAAATCAGCACAAAGCCTGATAGTACTTTACTAAAATGACTGCATTCTTTGGATTCCTTCAGTCTATGGTTCAAGTCACTAAAGATTCATTTTTGTTGAGTCCTTATGAGAAACAGCAGTATGAATCTTGACGGTTTCTGCCCGTCCTAATGGCAGAGCTCTCTGACTTGGGTGTATGCTGCCAGGCTGGGTACTTTCATACTTTGTTTTCTTGTTTTGCTTTAAAACTACGACTCAGCATACATTTTCCCACATACATTTTTACATTGTACCTTAGGACTCAGTCATCTCCACTTAAATTGATGACACAAGCAGCTAATAACCATTTCTGGGTTTCTGCCTAACCCCCTAATTGTCTGTTAAAGCCAATTCTCTGGGTGTCCCAGTGAGTGGTGGCTTTTTTTCTTTCCACATTGGCACATTCACTTCTCCCACTCTTGGCATGTAAGAAATAAGCATTTACATAATTGGAAAAATCTGGATTTCTGATGCCAAAGGGTTAAAGCTTCTTGGATTTCATTTCATTGATATACAGCCACTATTTTATTTTTGATCAGTGGCCTTTGGGCCACTGTTCAGGGTACTGACCATCAGTGTCAGCATTAGGGTTTTGGTTTTTGTTTCTTTTGGGTCTTTCTTTTTTGGCACATGTGAATCTTGTTTTGTGTAAAATGAAATTACTTTCTCTTGTTCTCTGATGATGGGTTTAAAATTAAAAGAGCATCCGGTTTTGGTATGGGGATGATCCAGGATTATGTTGTGACTGATACATATTAGTTACTTGTGCTTTTTTTTTTTTTTTTGGATCTTTGCAAGGGC)AAAACTACAAGTAACGAGTTTTATATAATTAATTTAAATTTGTTACAGGTTTTCATGTTCAGGATAAACCATACTTCCACCTTGGGTGAGAACACTTGCAACAGTTTATTAATGAGGTGACTTTCACCTTAGGACAACTGTTGCATGCCAAGTTTTTTGT|AACTGAGTAACCTCTTCCATTGAGAACAATTGACAAGTACACAGGTGCTCAACAAATATTTGTAACATATTTGGGGAAAAAGACACTCAGACTGCCATATTTTGATGTTGTAAATAATTGCATTTTG...TTTTTAGAAGTCAGTTTTCTGATTCAGCAAATTGGATACTAATACAGGACGTTTCAATGGTGAGGGAGAAAGATGGTTGTATTGGGTTTTAACCCTAGAATTATGACCTTGGGCAAGTCACATTTTCTTCTCTGCTCCCCATATACAAG . 11BR016 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 10 6 1 51 27 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___G)GGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR016 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 3 0 155 27 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCA)AGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR016 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 7 5 0 31 10 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream mismatches(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCA)AGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTG___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATGGCCACTCAGACTCCTGCTGGATGCCGG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvdsrplpdvaltgkctrecdeyghsdscwmp 11BR016 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 6 6 0 12 22 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream . CGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCgTGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGC(AAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR016 ENSG00000143674.11 ENSG00000135750.15(5864),ENSG00000286109.1(46076) +/+ ./- chr1:233362293 chr1:233678378 CDS/splice-site intergenic inversion 7 3 0 80 8 high out-of-frame . . . . ENSG00000143674.11 . ENST00000366624.8 . downstream downstream duplicates(1) ^(GTCCCAGGCTCTGGCTAAGGAGCGCGCGGCGGGCGGGCCGGCCGCAGGGCCTGGGCACGACCATGGTGGGACGTCGCCCGCGGCTTCGGGGACCGCTGCGGCAGCAGAGGCGGCTGGCCAGGAACGCGGGCCGAGGCTGGACCCTTTGGGCAGCTAGCCCGTGATCTCTGCCGTCACCGATCGCGATTCCTACCCCCTCGCCTTCCCCCGGCGCCGACGGCCACACCGCCGGACGATGCGCGCCCGCGGCCGCCCGGGAGGCTGAGCCCAGCTTCCCGCTCCGCCTTCCCCGCGCAGCTGCCCCCATGGCTTTGCGGGGCGCCGCGGGAGCGACCGACACCCCGGTGTCCTCGGCCGGGGGAGCCCCCGGCGGCTCAGCGTCCTCGTCGTCCACCTCCTCGGGCGGCTCGGCCTCGGCGGGCGCGGGGCTGTGGGCCGCGCTCTATGACTACGAGGCTCGCGGCGAGGACGAGCTGAGCCTGCGGCGCGGCCAGCTGGTGGAGGTGCTGTCGCAGGACGCCGCCGTGTCGGGCGACGAGGGCTGGTGGGCAGGCCAGGTGCAGCGGCGCCTCGGCATCTTCCCCGCCAACTACGTGGCTCCCTGCCGCCCGGCCGCCAGCCCCGCGCCGCCGCCCTCGCGGCCCAGCTCCCCGGTACACGTCGCCTTCGAGCGGCTGGAGCTGAAGGAGCTCATCGGCGCTGGGGGCTTCGGGCAGGTGTACCGCGCCACCTGGCAGGGCCAGGAGGTGGCCGTGAAGGCGGCGCGCCAGGACCCGGAGCAGGACGCGGCGGCGGCTGCCGAGAGCGTGCGGCGCGAGGCTCGGCTCTTCGCCATGCTGCGGCACCCCAACATCATCGAGCTGCGCGGCGTGTGCCTGCAGCAGCCGCACCTCTGCCTGGTGCTGGAGTTCGCCCGCGGCGGAGCGCTCAACCGAGCGCTGGCCGCTGCCAACGCCGCCCCGGACCCGCGCGCGCCCGGCCCCCGCCGCGCGCGCCGCATCCCTCCGCACGTGCTGGTCAACTGGGCCGTGCAGATAGCGCGGGGCATGCTCTACCTGCATGAGGAGGCCTTCGTGCCCATCCTGCACCGGGACCTCAAGTCCAGCAACA___TTTTGCTACTTGAGAAGATAGAACATGATGACATCTGCAATAAAACTTTGAAGATTACAGATTTTGGGTTGGCGAGGGAATGGCACAGGACCACCAAAATGAGCACAGCAGGCACCTATGCCTGGATGGCCCCCGAAGTGATCAAGTCTTCCTTGTTTTCTAAGGGAAGCGACATCTGGAG___CTATGGAGTGCTGCTGTGGGAACTGCTCACCGGAGAAGTCCCCTATCGGGGCATTGATGGCCTCGCCGTGGCTTATGGGGTAGCAGTCAATAAACTCACTTTGCCCATTCCATCCACCTGCCCTGAGCCGTTTGCCAAGCTCATGAAAG___AATGCTGGCAACAAGACCCTCATATTCGTCCATCGTTTGCCTTAATTCTCGAACAGTTGACTGCTATTGAAGGGGCAGTGATGACTGAGATGCCTCAAGAATCTTTTCATTCCATGCAAGATGACTGGAAACTAGAAATTCAACAAATGTTTGATGAGTTGAGAACAAAGGAAAAG___GAGCTGCGATCCCGGGAAGAGGAGCTGACTCGGGCGGCTCTGCAGCAGAAGTCTCAGGAGGAGCTGCTAAAGCGGCGTGAGCAG)CAGCTGGCAGAGCGCGAGATCGACGTGCTGGAGCGGGAACTTAACATTCTGATATTCCAGCTAAACCAGGAGAAGCCCAAGGTAAAGAAGAGGAAGGGCAAGTTTAAGAGAAGTCGTTTAAAGCTCAAAGATGGACATCGAATtAGTTTACCTTCAG|ATATAGCCATGGAACCTTGAAATCTACAGACGTAAGTAACACAGATGATCAGCTGGAAAGAAAACAAATGTGAGTGCAGTGATTAGTCTCTTTAAGACCCTCCATAGTGACCGGAGAAGTGTTCCAGGTGGCACAGCTAGGTTTCCACATTGACCCACTGTGCTTGTCGTCCTTCTCCAGCCAGTGCCCCTTTTGGAGGGAG MALRGAAGATDTPVSSAGGAPGGSASSSSTSSGGSASAGAGLWAALYDYEARGEDELSLRRGQLVEVLSQDAAVSGDEGWWAGQVQRRLGIFPANYVAPCRPAASPAPPPSRPSSPVHVAFERLELKELIGAGGFGQVYRATWQGQEVAVKAARQDPEQDAAAAAESVRREARLFAMLRHPNIIELRGVCLQQPHLCLVLEFARGGALNRALAAANAAPDPRAPGPRRARRIPPHVLVNWAVQIARGMLYLHEEAFVPILHRDLKSSNILLLEKIEHDDICNKTLKITDFGLAREWHRTTKMSTAGTYAWMAPEVIKSSLFSKGSDIWSYGVLLWELLTGEVPYRGIDGLAVAYGVAVNKLTLPIPSTCPEPFAKLMKECWQQDPHIRPSFALILEQLTAIEGAVMTEMPQESFHSMQDDWKLEIQQMFDELRTKEKELRSREEELTRAALQQKSQEELLKRREQQLAEREIDVLERELNILIFQLNQEKPKVKKRKGKFKRSRLKLKDGHRISLPS|diamep* 11BR016 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 4 6 0 21 14 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream mismappers(1) ACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG(___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 11BR016 ENSG00000187231.14 ENSG00000136895.19 -/- +/- chr2:179264499 chr9:127320764 5'UTR/splice-site CDS translocation/5'-5' 2 7 0 39 23 high . . . . . ENSG00000187231.14 ENSG00000136895.19 ENST00000428443.8 . upstream downstream . ^(CTTCCTCCTTCCCGCGCCGGGCGGGTTGCTGTACCGCCGTCACCCGGGCGCGCGCGGGGTCGCGCGGACGCGGCTCGGGCCGCGGGTGCCGAGAGGTCGCCGGGCCACCCGCACCCCCGCTCCCCGCCTGACGCACGGAGGGGCCGGGACGCGATTTGCCGCGAGTGACTGGAGCCGCAGCCGTCGCCGCTGCTGCCGCCGCCGCCCGGGCCCGCTCCGCCCC)CAGCCCGCCTTCCTCCCGCCGCGCCCTCCGCCTCCGCCCGCACCTCGCTAGCGTTCCCCTGTCTTCCCCAACGCCCCGGAGCCGCCGGCCGCTAGCGTCAGCGCCAGCCAG|GATGAAAAATTTCCCTGGGGCCTTTCTCAAATTTGTCCAGATTCATGGCACTGAAATAGAATGGACAGGATGAGCTGCAGCATCAGAGAAGCTAAAAAGGAGCTTCTAGAAAATCACAGCTGTTTTCCCTAAAGGGCCTGACACTCAGAAGATACAAATCAACAAATGAGTTATCAATGAACAAACAGATGAAAGTAAC . 11BR016 ENSG00000251474.6 ENSG00000172771.12 -/- -/- chr3:129393635 chr3:129401851 exon/splice-site CDS/splice-site duplication 2 7 0 30 11 high . . . . . ENSG00000251474.6 ENSG00000172771.12 ENST00000510078.5 ENST00000326085.7 upstream downstream . ^(CCTTGGTGCTTCTTTTTCCTGCTCGGTGAGTTTGTTTGTTTGTTTGTTTTTGAGACAGAGTCTCACTTTGCTTCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTACTGCAGCCTCCGCTTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCCAAGTAGCTGGGACTACCGGCGCCCACCACCACGCCTGGCTAATTTTTGAATTTTTAGTAGAGAGTGGGTTTCACTATGTTGGCCAGGCTGGTCTGGAACGCCTGACCTCAAGTGATCCGTCCGCCTCGGCCTTCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAGTGAGTCTTAATCCGTGGCCATCTGCGTTCCTGCAGGCTTCATCTGGCCCTATGGTCCCCTG___GCATCATGGCTGCCCTCAGATCCCTTGTGAAGCCCAAGATCGTCAAAAAGAGAACCAAGAAATTCATCCGGCACCAGTCAGACCGATATGTCAAAATCAAG___CGTAACTGGTGGAAACCCAGAGGCATTGACAACAGGGTTCATAGAAGGTTCAAGGGCCAGGTCTTGATATGATGCCCAGCATTGGTTATAGGAGCAAAAAAAAAAAAAAAAAAAAAAAACCAGAAAGCACGTGCTGCCCAGTGGCTTCCGGAAGTTCCTGGTCCACAATGTCAAGGAGCTGAGAGTGCTGCTGATATGCAACAA___ATGAGAAGA)ATAATGTCTGGGGTGAAGGTGAAGCACCCAGCCCAAGACTCAGCAGCCAGGAAGTGGCCCAGCGCTCTTTATACCACaGGTGCAGGAATTCACACAGAAAAGTGGAGGCCAAGGCGTGAGAATTCCTCAATGACTGCCCTCTAAAGGAAGAG|GAAGCTGAAGGTGAAGAGGTCCAGTGGTCTGCAGCAAACACACCCCAATTCCTTCTGGCCGGGTCATCTTCTGGATAAGCTGCAGCTCTACCTGCCCACTGTGGCCACAGACCGGAGCCTGGCGCTCTTCAGTTGTGTTCAACACCAGCCCCATGTCTACCCAGCCACCTACCACCCTGACCACTGGTGGCCCCTTAGGAACAAGAACTACATGACCCACGCCCATTATGATGCCGCCAAGGTGTACTACATCAACTAGAGCTAGCCAGGTGTTGCCGGACCCAGCCTTCCTGGGCCAGGGGCCAGTGCAGCCAGCGGCCCAGAGCCCAGACACAAGAGGAGTGTCA(AAGAGTCAAACTAAAGAAATCCTTTCAAAGAGGGATGGACCGGGGGCCAGTTCCCTCTGGACTCAAAGTGTCCAGTGTCTCAGAGGGTAGATGTGTCCAAGGAATGACGTGCAGTTTTTGACTATTTCCCTCCCCTGACCTCTGCCCTTTCTACATAAAGCAGGTTGGAGTTTTTCTCATTTC)$ . 11BR016 ENSG00000144668.12 ENSG00000168016.14 +/+ -/+ chr3:37803942 chr3:36828211 CDS/splice-site 3'UTR duplication/5'-5' 2 3 1 30 38 high out-of-frame . FG-GAP_repeat(100%),Integrin_alpha(100%)| . . ENSG00000144668.12 ENSG00000168016.14 ENST00000264741.10 . downstream upstream . ^(AGACTTCTCGGGCGGACTGAGGACGCCGCCGCTCGGGGCCGCCCCTGTGCTCGCCTTCAGCGCCCGCTCAGCCCGCCGTCCGCGCCCCGGTGGCGGGCCCGACGCCCGCATTCCGCCCGTGTCCAGGCGCAGAGCTCCCGCCCCGGGGAGCTTCCTGGCCGTCGGCGGGCCCCGCGGCCCGCGCGCTCGGCGCCCTGCTCGCCGGGCAGAGGGGAAGGCGGCGGCCGGCTGGGGATGGGCGGCCCGGCTGCGCCGAGGGGCGCCGGGAGGCTCCGCGCGCTGCTGCTGGCGCTGGTGGTCGCGGGGATCCCCGCGGGCGCCTACAACCTCGACCCGCAGCGCCCCGTGCACTTCCAGGGCCCCGCTGACTCGTTCTTCGGCTACGCAGTTCTGGAGCATTTCCACGACAACACGCGCTG___GGTCCTTGTGGGCGCACCAAAGGCAGATTCCAAATACAGCCCTTCAGTGAAGTCTCCTGGGGCTGTGTTTAAGTGCCGTGTTCACACCAACCCTGACCGGAGATGCACCGAACTGGACATGGCTCGAG___GGAAGAATCGGGGCACGTCCTGCGGAAAGACCTGCCGGGAAGACCGCGATGATGAGTGGATGGGGGTGAGCCTGGCCCGACAGCCCAAGGCTGATGGCCGTGTGTTG___GCCTGTGCTCATCGCTGGAAGAACATCTACTATGAAGCCGACCACATCCTACCCCATGGCTTCTGCTACATCATCCCCTCCAACCTCCAGGCCAAAGGCAGGACGCTGATCCCTTGCTATGAAG___AGTATAAGAAGAAGTACGGAGAGGAACACGGCTCCTGCCAGGCTGGGATAGCGGGCTTCTTCACCGAG___GAGCTGGTGGTGATGGGTGCTCCAGGGTCATTTTATTGGGCTGGAACCATCAAAGTGCTGAACCTTACGGACAACACCTATTTAAAACTGAACGACGAAGTGATCATGAACAGGCGGTACACCTACCTGG___GCTACGCAGTGACCGCTGGCCACTTCTCTCACCCGTCCACCATTGATGTGGTAGGAGGTGCCCCACAGGACAAAGGCATCGGCAAG___GTTTATATTTTCAGAGCTGACCGAAGATCAGGCACCTTAATTAAGATCTTTCAAGCATCAGGTAAAAAG___ATGGGCTCTTACTTCGGCTCCTCCTTGTGCGCAGTTGACCTGAATGGGGACGGCCTCTCTGACCTGCTGGTGGGGGCCCCCATGTTTTCTGAGATCAGGGATGAGGGACAGGTCACTGTCTACATCAACAGAGGAAAT___GGAGCCCTCGAGGAGCAGCTGGCTCTGACTGGGGATGGTGCCTACAATGCGCACTTTGGAGAGAGCATTGCCAGCCTGGACGATCTGGACAATGATGGGTTCCCAG___ATGTGGCCATTGGTGCACCCAAGGAGGATGACTTCGCAGGGGCGGTCTATATCTATCATGGTGATGCCGGTGGGATAGTCCCTCAGTACTCAATG___AAACTGTCTGGGCAGAAGATAAATCCAGTGCTCCGGATGTTTGGTCAGTCCATATCGGGAGGCATTGATATGGATGGAAATGGCTATCCTG___ATGTCACTGTTGGAGCCTTCATGTCCGACAGCGTGGTTCTTCTCAG___AGCAAGGCCTGTCATTACGGTGGATGTCTCCATCTTCCTCCCGGGCTCCATCAACATCACAGCGCCTCAGTGTCACGACGGACAGCAGCCTGTGAACTGCCTGAACGTCACCACCTGCTTCAGCTTCCATGGCAAACACGTTCCAGGAGAGATTG___GCCTGAATTATGTTCTGATGGCTGACGTGGCCAAAAAGGAGAAGGGCCAGATGCCCAGGGTCTACTTTGTGCTGCTGGGAGAGACCATGGGTCAGGTCACAGAGAAGCTGCAGCTGACTTACATGGAGGAGACGTGTCGTCACTATGTGGCCCATGTGAAG___CGGAGGGTGCAGGACGTCATCAGCCCGATCGTGTTTGAAGCAGCCTACAGCCTCAGTGAGCATGTGACTGGAGAGGAGGAGAGGGAACTGCCGCCTCTGACACCAGTTCTCCGCTGGAAAAAGGGACAAAAGATTGCCCAAAAGAATCAG___ACTGTTTTTGAAAGGAATTGCCGTTCAGAGGACTGTGCCGCAGACCTGCAGCTTCAGGGTAAACTGCTGCTCTCCAG___TATGGATGAGAAAACCCTGTATCTAGCTTTGGGGGCTGTGAAGAACATCTCCCTAAACATCTCTATCTCCAACCTCGGAGATGATGCCTATGATGCCAACGTGTCCTTCAATGTTTCCCGGGAGCTCTTCTTCATCAACATGTGGCAGAAG___GAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAG___TATGAATTCAGCGTGATCTTTGATACAAGCCACCTGTCTGGGGAAGAGGAAGTTCTCAGCTTCATTGTTACTGCTCAGAG___TGGCAACACGGAGCGCTCTGAATCCCTGCATGACAACACCCTCGTGCTGATGGTGCCACTGATGCACGAGGTGGACACGTCCATCACCGG___AATCATGTCTCCAACCTCCTTTGTATATGGCGAGTCCGTGGACGCAGCCAACTTCATTCAGCTGGATGACCTGGAGTGTCACTTTCAGCCCATCAATATCACCCTTCAG___GTCTACAACACTGGCCCAAGCACCCTTCCAGGGTCATCTGTCAGCATCTCTTTCCCTAATCGACTCTCATCTGGTGGTGCAGAGATGTTTCATGTCCAGGAAATGGTG___GTGGGCCAAGAGAAGGGAAACTGCTCTTTCCAGAAAAACCCAACTCCCTGCATCATCCCTCAAGAACAAGAAAATATCTTCCACACAATATTTGCTTTTTTCACAAAGTCTGGAAGAAAAGTCTTG___GACTGTGAAAAACCAGGAATTTCTTGCCTAACAGCACACTGTAACTTTAGTGCTCTTGCTAAAGAAGAAAGTCGTACTATAGACATTTACATGCTGCTGAACACAGAAATACTGAAAAAG___GACAGTTCGTCTGTCATCCAGTTCATGTCCCGCGCCAAGGTGAAGGTGGATCCTGCCCTAAGGGTG)GTGGAAATAGCTCATGGGAACCCAGAAGAGGTGACG___GTGGTCTTCGAGGCCCTGCACAATCTGGAGCCCCGTGGCTACGTCGTGGGGTGGATCATCGCCATCAGTTTGTTGGTGGGAATCCTCATCTTCCTGCTGCTGGCCGTGCTGCTCTGGAAG|CGCTCAGAATTCTAAGTCAGAATGGAATGTTCCGAAGGATGAGGAGGCTGCAGCTGTGTGGACATTAGTATTTTCTCTGCTTTCCACATTTCCGAGAACGCCTTCTAGGCCGAAGCTCACCAAAGTCTTCAACTTCATTTTCATAATCATCTTCCTGAACAATACCTGAAGAAAGAAAG MGGPAAPRGAGRLRALLLALVVAGIPAGAYNLDPQRPVHFQGPADSFFGYAVLEHFHDNTRWVLVGAPKADSKYSPSVKSPGAVFKCRVHTNPDRRCTELDMARGKNRGTSCGKTCREDRDDEWMGVSLARQPKADGRVLACAHRWKNIYYEADHILPHGFCYIIPSNLQAKGRTLIPCYEEYKKKYGEEHGSCQAGIAGFFTEELVVMGAPGSFYWAGTIKVLNLTDNTYLKLNDEVIMNRRYTYLGYAVTAGHFSHPSTIDVVGGAPQDKGIGKVYIFRADRRSGTLIKIFQASGKKMGSYFGSSLCAVDLNGDGLSDLLVGAPMFSEIRDEGQVTVYINRGNGALEEQLALTGDGAYNAHFGESIASLDDLDNDGFPDVAIGAPKEDDFAGAVYIYHGDAGGIVPQYSMKLSGQKINPVLRMFGQSISGGIDMDGNGYPDVTVGAFMSDSVVLLRARPVITVDVSIFLPGSINITAPQCHDGQQPVNCLNVTTCFSFHGKHVPGEIGLNYVLMADVAKKEKGQMPRVYFVLLGETMGQVTEKLQLTYMEETCRHYVAHVKRRVQDVISPIVFEAAYSLSEHVTGEEERELPPLTPVLRWKKGQKIAQKNQTVFERNCRSEDCAADLQLQGKLLLSSMDEKTLYLALGAVKNISLNISISNLGDDAYDANVSFNVSRELFFINMWQKEEMGISCELLESDFLKCSVGFPFMRSKSKYEFSVIFDTSHLSGEEEVLSFIVTAQSGNTERSESLHDNTLVLMVPLMHEVDTSITGIMSPTSFVYGESVDAANFIQLDDLECHFQPINITLQVYNTGPSTLPGSSVSISFPNRLSSGGAEMFHVQEMVVGQEKGNCSFQKNPTPCIIPQEQENIFHTIFAFFTKSGRKVLDCEKPGISCLTAHCNFSALAKEESRTIDIYMLLNTEILKKDSSSVIQFMSRAKVKVDPALRVVEIAHGNPEEVTVVFEALHNLEPRGYVVGWIIAISLLVGILIFLLLAVLLWK|rsef* 11BR016 ENSG00000138382.15 ENSG00000253535.5 -/- -/+ chr2:169819561 chr8:24601611 CDS/splice-site intron translocation/5'-5' 4 1 0 251 4 high out-of-frame . Methyltransferase_small_domain(100%),Ribosomal_protein_L11_methyltransferase_(PrmA)(100%)| . . ENSG00000138382.15 ENSG00000253535.5 ENST00000409837.5 . upstream upstream . ^(GCTTCCGGCACCGGCCGAGGTGCGGGTCGCCTCCAGAG___ATCCTGTGCCTTCAAACCCTACGAGTCCATACTTTAAAACAAAATGAAGAAAGTAAGGCTTAAGGAACTAGAGAGTCGCCTGCAACAAGTGGATGGATTTGAAAAGCCCAAGCTACTTCTGGAACAGTATCCTACCAGGCCGCACATTGCAG___CATGTATGCTCTATACAATCCATAACACTTATGATGACATTGAAAATAAAGTCGTTGCAGATCTAGGATGTGGTTGTGGA)GTACTTAGCATCGGAACTGCAATGTTAGGAGCAGG___GTTGTGTGTTGGATTTGACATAGATGAAGACGCATTGGAAATATTTAATAGGAATGCAGAAGAGTTTGAGTTAACAAATATTGACATGGTTCAATGTGATGTGTGCTTATTATCTAACAGAATGTCCAAGTCATTCGATACAGTAATTATGAATCCTCCCTTTGGGACCAAAAATAATAAAG___GGACAGATATGGCTTTTCTAAAGACTGCTTTGGAAATGGCAAGAACAGCAGTATATTCCTTACACAAATCCTCAACTAGAGAA|GGACAAGACTGGTAAATGTGTGTCATGGAGTATCCTGTAAGAACAGTGACTGAGAACCCAGCTCCTCTGTTCTGTGGAGTCTGATGGACTAAGAAAGCC MKKVRLKELESRLQQVDGFEKPKLLLEQYPTRPHIAACMLYTIHNTYDDIENKVVADLGCGCGVLSIGTAMLGAGLCVGFDIDEDALEIFNRNAEEFELTNIDMVQCDVCLLSNRMSKSFDTVIMNPPFGTKNNKGTDMAFLKTALEMARTAVYSLHKSSTRE|gqdw* 11BR016 ENSG00000134317.18 ENSG00000244260.2 +/+ +/+ chr2:9965381 chr2:9692473 CDS/splice-site exon/splice-site duplication 2 3 0 218 7 high out-of-frame . . . . ENSG00000134317.18 ENSG00000244260.2 ENST00000324907.14 ENST00000483023.1 downstream upstream . ^(AGAGCGAGAAAAGCAAACCCAACCCGTCGGGGCCGCCGCTCCGGACCCGCAGCCGCCGCCGCCGCCTCCTCCCCCCGGATCGGGTGTACTGTCCCAACCCGAAAGTCCAGTTCTGCGGCCCGGCAGCGGCGAGCGGGCGCGATGACACAGGAGTACGACAA___CAAACGGCCAGTGTTGGTTCTTCAGAATGAAGCACTTTATCCACAGCGGCGGTCCTACACTAGTGAGGATGAGGCCTGGAAATCCTTCCTGGAAAACCCTCTCACTGCAGCGACCAAAGCGATGATGAGCATCAATGGAGATGAAGACAGCGCCGCTGCGCTGGGCCTGCTCTATGACTACTACAAG___GTTCCAAGAGAGAGAAGGTCATCAACAGCAAAGCCAGAGGTGGAGCACCCTGAGCCAGATCACAGCAAAAG___AAACAGCATACCAATTGTGACAGAGCAGCCCCTCATCTCTGCTGGAGAAAACAGAGTGCAAGTACTGAAAAATGTGCCATTTAACATTGTCCTTCCCCATGGCAACCAGCTGGGCATTGATAAGAGAGGCCATCTGACAGCTCCAGATACGACAGTCACTGTCTCCATAGCAACGATGCCTACCCACTCCATCAAGACAGAAACCCAGCCACATGGCTTCGCTGTGGGAATCCCCCCAGCAGTGTATCATCCTGAGCCCACTGAGCGGGTGGTGGTTTTCGATCGGAATCTCAATACTGACCAGTTCAGCTCTGGTGCTCAAGCCCCAAATGCTCAAAGGCGAACTCCAGACTCGACCTTCTCAGAGACCTTCAAGGAAGGCGTTCAGGAG___GTTTTCTTCCCCTCGGATCTCAGTCTGCGGATGCCTGGCATGAATTCAGAGGACTATGTTTTTGACAGTGTTTCTGG___GAACAACTTTGAATATACCCTAGAAGCTTCAAAATCACTTCGACAGAAGCCAGGAGACAGTACCATGACGTACCTGAACAAAGGCCAGTTCTATCCCATCACCTTGAAGGAGGTGAGCAGCAGTGAAGGAATCCATCATCCCATCAGCAAAGTTCGA___AGTGTGATCATGGTGGTTTTTGCTGAAGACAAAAGCAGAGAAGATCAGTTAAGGCATTGGAAGTACTGGCACTCCCGGCAG)CACACCGCTAAACAAAGATGCATTGACATAG___CTGACTATAAAGAAAGCTTCAACACTATCAGTAACATCGAGGAGATTGCGTATAACGCCATTTCCTTCACATGGGACATCAACGATGAAGCAAAG|CCCTCAGGTTGAGGCCCTTCCTGGCAAAGCTGCCCTAGGCCCAGATGTCACATATGCATGACAACGTCCGGGGACCATTTGCCCCAGCAGATTCCCTTTCATTTCTGATTGGCCGGCAAGTGGCTGAGGATCGTCTTACTCGCACCCTGGTGCTGGGCGCTGACCACCTCCCGAAGCACTTGGCCAGG(GGGAGAGGATGCTGGACACAATCAGGTTCTCCTGGGGGGAGGAGGGAGGGAATGGCTGCTGGAAGGGTTCTACCGGGGACTCCTACAGCAGCTTGTTAGATCTCCTTCCTCCCAATTCCCTGAAGTTGGTGGAACAGGAAGAGGACGAGAAGTCATGTTTGTATGTTGTCCCCTTGGAATCTCTCAAAAATCCGCAATATCCCGATTTGAGAAATGAGCATCACAGAGAAAGCAAAGCGGTAGTTGGAAGCTGCCAAGCTTGTGAGCAACGAGACGGAATCCACGCCCAGGGCTTTCTAACGGCGGGGCCACGCCCTCCACACTCCACCTCGGCCCTCTGCCCTGCGATGGTGCAGAGACAGGGTGTGGTCAAGGGGCCTAGGGTGAGGGTCCTGCCAGTACTTTACAGGAAACTCCCCCTCTTTTAGCCTCATTTGTCAAAGAAAGGGCTTAGACACTAAAATCTTTTAAGTTTCCTTCTAGCTCAATCTCTCTTTGATTTAATACCTTCTAAAAGAGATTTGGGGCCCCAGAAAAAAAGAAAGCAAGAAAGCAACTGGCACTTCTGTGGTTGACTCAGCACAGAGGCCTGGACAGGCATCAGGAGGCTGGGCTCCTCCTATTTTGGGCCTCGTGAGTTCATCCTGAGGCCTGTGCCAGTCCCTGCGGTTTCTCATCTCTCCATCCTGGTCTGTATGACAAAATGGCTAAAAATACCGGGCTCCCCGCGGGCCCGCCACCCGGCTAACACCCTCCCTTGAATCAGCTCATTTTTTAGTCTTGGGTATGCTGCAGATGAGAGTCCAGGACAAGCCACCTTCGGAAGCTCTGACTCCCAGGAACCCCGCTTGGGTTGGTCCTTGTGCTCTGGTGGAAGAAGCTTGGGCGCTGTCCACTTCCTAGGCAG___ACTATTCCCATCATAGACACAGTGACCCTTTTAAAGCTCAGACTCTGCAATAACGGCTGCCCATCTCACTCACAGAGAAGGAACAGGACCAGGAGGGCCTAGTGATGGAAGGACCAACACATGGTTGGATGACAGACCCTGAAGGGCCCTTGTGGAGGGGCTCCATGGGAGTTGGCTGTGAAACCACCCAGGCTGAGGCTCCCCTGTGGGCTTGAGTCATGCCCGGCCAAAGCTTGCAAAGTGGAGGCTGTGTCGCATTTTCTGTTTTCCCCATGCCTGACATCCAGTGGGCACTAATAAATGTTTAACGAGT)$ MTQEYDNKRPVLVLQNEALYPQRRSYTSEDEAWKSFLENPLTAATKAMMSINGDEDSAAALGLLYDYYKVPRERRSSTAKPEVEHPEPDHSKRNSIPIVTEQPLISAGENRVQVLKNVPFNIVLPHGNQLGIDKRGHLTAPDTTVTVSIATMPTHSIKTETQPHGFAVGIPPAVYHPEPTERVVVFDRNLNTDQFSSGAQAPNAQRRTPDSTFSETFKEGVQEVFFPSDLSLRMPGMNSEDYVFDSVSGNNFEYTLEASKSLRQKPGDSTMTYLNKGQFYPITLKEVSSSEGIHHPISKVRSVIMVVFAEDKSREDQLRHWKYWHSRQHTAKQRCIDIADYKESFNTISNIEEIAYNAISFTWDINDEAK|psg* 11BR016 ENSG00000107036.12 ENSG00000236511.2 +/+ +/+ chr9:5770278 chr9:3200300 CDS/splice-site exon/splice-site duplication 1 2 0 64 27 high out-of-frame . RIC1(100%)| . . ENSG00000107036.12 ENSG00000236511.2 ENST00000414202.7 ENST00000654614.1 downstream upstream duplicates(2) ^(ACACTCGGCCCCGTCAGCTTGGGGGTGCCTTCGTCGCGCAGCCTTGCGTCGGCCCGGCCCGGCCAGGCCAGCGGGCAGATGCCCCGAGCTGCCGCCGCCGCCGCCGCCGACTCGGCCGGTGGCGGTGTGGGAGGTGGGCGACCAGCCCGGGGCCGCTGAGTGTGACGGACGCAACTGGGGGCGCCGGGGGCTCCGCACGGACCATGTATTTTCTGAGCGGCTGGCCCAAGAGGCTGCTGTGCCCTCTGGGGAGCCCGGCCGAGGCGCCTTTCCACGTTCAGTCCGACCCGCAGAGGGCTTTCTTCGCCGTGCTGGCCGCGGCCCGCCTCAGCATCTGGTACAGCCGA___CCTAGTGTGTTAATTGTAACCTACAAGGAGCCTGCAAAATCATCTACTCAGTTTGGATCCTACAAGCAAGCTGAATGGAGGCCAGATAGTACCATGATAGCTGTATCA___ACGGCAAATGGATACATCTTGTTTTTTCATATTACATCTACAAGAGGGGACAAGTACCTTTATGAACCAGTGTATCCCAA___AGGAAGTCCACAAATGAAGGGGACACCCCATTTTAAGGAAGAACAGTGTGCTCCAGCATTAAATTTGGAGATGAGGAAAATACTGGATTTACAAGCACCCATCATGAG___TTTGCAGTCTGTGTTGGAAGATCTCCTGGTTGCTACTTCTGATGGACTTCTTCATCTTATTCACTGGGAAGGAATGACAAATGGAAGGAAAGCCATTAATCTTTGCACAGTACCCTTTTCAGTAGACCTGCAGTCATCTAGAG___TAGGTTCATTCCTGGGCTTCACAGACGTACACATCAGAGACATGGAATACTGTGCCACACTTGATGGGTTTGCTGTTGTATTTAATGATGGTAAAGTTGGATTTATTACACCAGTGTCAAGTAGATTTACTGCAGAG___CAGCTTCATGGAGTTTGGCCACAAGATGTTGTTGACGGAACGTGTGTAGCAGTAAATAACAAGTATCGACTAATGGCATTTGGCTGTGTGAG___TGGTTCTGTGCAGGTCTATACAATAGATAACAGCACTGGAGCCATGCTGCTATCTCATAAATTAGAGCTAACAGCAAAACAGTATCCTG___ACATTTGGAATAAAACAGGAGCTGTTAAATTGATGAGATGGTCTCCTGACAATAGTGTTGTAATAGTGACCTGGGAATACGGAGGCCTTTCTTTATGGAGTGTTTTTGGAGCACAGCTGATTTGTACACTTGGAGGAGATTTTGC___TTATAGGTCTGATGGCACCAAAAAAGATCCCCTTAAGATCAACTCTATG___AGCTGGGGTGCAGAAGGCTATCACCTATGGGTAATCAGCGGATTTGGTTCTCAAAACACTGAAATTGAGTCTGACCTCAGGAGTGTAGTTAAACAGCCCAGCATCCTGTTATTTCAGTTTATTAAGAGTGTACTCACTGTAAACCCTTGTATG___AGTAACCAAGAGCAGGTGTTGCTTCAGGGTGAGGATCGCTTGTACTTGAACTGTGGAGAGGCTTCACAAACCCAGAATCCCAGGAGTTCTTCAACACACTCTGAGCATAAGCCCAGTCGAGAAAAGAGCCCATTTGCAGATGGAGGTTTAGAGTCTCAGGGATTAAGCACTTTACTTGGACATCGGCATTGGCATGTTGTACAG___ATTTCCAGCACCTATCTAGAGAGCAATTGGCCTATACGG___TTTTCAGCTATTGATAAGCTTGGACAGAATATTGCTGTGGTTGGCAAGTTTGGTTTTGCACATTACTCTTTACTCACCAAAAAATGGAAACTTTTTGGAAACATTACCCAG___GAGCAAAATATGATCGTGACAGGTGGCTTAGCCTGGTGGAATGATTTTATGGTCCTTGCGTGTTATAACATAAATGACCGTCAAGAAGAG___CTTAGAGTATACTTGCGAACATCAAATCTGGACAATGCCTTTGCTCATGTCACCAAAGCACAAGCAGAAACATTACTGCTTAGTGTCTTCCAGGACATGGTAATAGTATTTAGAGCAGACTGTTCAATATGCCTTTACAGTATTGAAAGAAAATCTGATGG___TCCAAATACTACTGCTGGTATTCAAGTTCTTCAGGAGGTTTCCATGTCACGCTACATTCCTCACCCTTTCCTGGTGGTATCTGTCACTCTGACATCAGTGAGTACAGAGAATGGAATCACCTTGAAAATGCCACAGCAG___GCTCGTGGTGCAGAGAGCATTATGTTAAACCTGGCAGGACAGCTCATCATGATGCAGAGGGACAGGTCAGGCCCACAGATCCGGGAGAAGGACAGTAACCCTAATAACCAAAGGAAACTT___CTGCCATTCTGTCCTCCTGTTGTACTAGCCCAGTCTGTTGAAAATGTCTGGACAACGTGTCGAGCAAATAAACAGAAACGTCACCTTCTGGAGGCCCTCTGGCTGAGCTGTGGTGGTGCAGGGATGAAAGTTTGGCTCCCTCTCTTCCCTAGGGATCACCGCAAGCCCCATTCCTTCTTGTCCCAGCGGATCATGCTGCCTTTCCACATCAACATTTACCCGCTAGCTGTTCTGTTTGAAGATGCTTTAGTCCTTGGTGCTGTCAATGACACTTTGCTCTATGATTCTTTATATACTCGGAACAATGCTAGAGAACAGCTGGAGGTGCTCTTCCCTTTCTGTGTTGTGGAGAGAACCTCTCAGATCTACCTCCACCACATTCTACGTCAACTTCTGGTCAGAAACCTTGGGGAGCAAGCCTTGCTCTTGGCCCAGTCCTGTGCCACATTACCTTACTTCCCTCATGTGCTGGAGCTCATGCTCCATGAAGTACTGGAAGAAGAAGCTACCTCACGGGAGCCCATTCCCGACCCTCTGCTTCCCACTGTGGCAAAATTTATCACTGAGTTCCCCCTCTTCCTGCAGACAGTTGTCCATTGTGCCAGGAAGACCGAATATGCCCTGTGGAATTACCTTTTTGCAGCTGTTGGAAACCCTAAGGACTTGTTTGAGGAGTGTTTGATGGCTCAGGATTTGGACACAGCTGCCTCTTACCTTATTATCTTACAG___AATATGGAAGTCCCTGCAGTAAGTAGGCAACATGCTACCCTTCTATTCAACACAGCACTAGAACAAGGCAAGTGGGACCTTTGTCGACACATGATTCGATTTCTTAAAGCCATTGGCTCTGGAGAATCTGAGACACCTCCATCCACACCCACAGCTCAG___GAACCCAGTTCAAGTGGTGGATTTGAGTTCTTCAGGAATCGAAGCATCAGTTTATCCCAGTCAGCTGAAAATGTTCCTGCCAGTAAATTCAGTTTACAGAAAACACTAAGTATGCCATCTGGTCCCTCTGGAAAAAG___ATGGAGCAAAGACAGTGACTGTGCTGAGAACATGTATATTGACATGATGCTCTGGAGACATGCTCGGCGCCTCTTAGAAGATGTGAGGTTAAAGGACCTTGGCTGCTTTGCAGCCCAGCTGGGCTTTGAACTAATTAGTTGGCTATGCAAGGAACGTACCCGAGCCGCCCGGGTAGACAACTTTGTAATAGCCCTGAAGAGACTCCACAAAGATTTCCTGTGGCCACTTCCAATCATCCCAGCCTCTTCTATCAGTTCTCCTTTCAAAAATGGAAAATACCGAACTG___TGGGAGAGCAGCTGTTAAAGTCTCAATCAGCTGACCCATTTTTGAACCTTGAGATGGATGCTGGCATCTCCAACATCCAGCGAA)GTCAGAGCTGGCTCAGCAACATTGGCCCCACCCATCATGAGATAGACACAGCTTCATCCCATGGACCACAAATGCAAGATGCCTTCTTGTCACCTTTATCTAATAAAG|AAAGCAAGCAGTCAGAAGTCACCCCATAAAACACCTTCCACCCTCTGAGCATGACCAGCAAAGCGGTTTCTTCTTGCGGACACTGCATCAGCCCAGCTCAAAGTGCATTCCATTCTGATGAAC(ATCCACAAACAGTTATGAAGAAG)$ MYFLSGWPKRLLCPLGSPAEAPFHVQSDPQRAFFAVLAAARLSIWYSRPSVLIVTYKEPAKSSTQFGSYKQAEWRPDSTMIAVSTANGYILFFHITSTRGDKYLYEPVYPKGSPQMKGTPHFKEEQCAPALNLEMRKILDLQAPIMSLQSVLEDLLVATSDGLLHLIHWEGMTNGRKAINLCTVPFSVDLQSSRVGSFLGFTDVHIRDMEYCATLDGFAVVFNDGKVGFITPVSSRFTAEQLHGVWPQDVVDGTCVAVNNKYRLMAFGCVSGSVQVYTIDNSTGAMLLSHKLELTAKQYPDIWNKTGAVKLMRWSPDNSVVIVTWEYGGLSLWSVFGAQLICTLGGDFAYRSDGTKKDPLKINSMSWGAEGYHLWVISGFGSQNTEIESDLRSVVKQPSILLFQFIKSVLTVNPCMSNQEQVLLQGEDRLYLNCGEASQTQNPRSSSTHSEHKPSREKSPFADGGLESQGLSTLLGHRHWHVVQISSTYLESNWPIRFSAIDKLGQNIAVVGKFGFAHYSLLTKKWKLFGNITQEQNMIVTGGLAWWNDFMVLACYNINDRQEELRVYLRTSNLDNAFAHVTKAQAETLLLSVFQDMVIVFRADCSICLYSIERKSDGPNTTAGIQVLQEVSMSRYIPHPFLVVSVTLTSVSTENGITLKMPQQARGAESIMLNLAGQLIMMQRDRSGPQIREKDSNPNNQRKLLPFCPPVVLAQSVENVWTTCRANKQKRHLLEALWLSCGGAGMKVWLPLFPRDHRKPHSFLSQRIMLPFHINIYPLAVLFEDALVLGAVNDTLLYDSLYTRNNAREQLEVLFPFCVVERTSQIYLHHILRQLLVRNLGEQALLLAQSCATLPYFPHVLELMLHEVLEEEATSREPIPDPLLPTVAKFITEFPLFLQTVVHCARKTEYALWNYLFAAVGNPKDLFEECLMAQDLDTAASYLIILQNMEVPAVSRQHATLLFNTALEQGKWDLCRHMIRFLKAIGSGESETPPSTPTAQEPSSSGGFEFFRNRSISLSQSAENVPASKFSLQKTLSMPSGPSGKRWSKDSDCAENMYIDMMLWRHARRLLEDVRLKDLGCFAAQLGFELISWLCKERTRAARVDNFVIALKRLHKDFLWPLPIIPASSISSPFKNGKYRTVGEQLLKSQSADPFLNLEMDAGISNIQRSQSWLSNIGPTHHEIDTASSHGPQMQDAFLSPLSNK|eskqsevtp* 11BR016 ENSG00000196950.14 ENSG00000225539.7 +/+ +/- chr2:195728349 chr2:194491680 CDS/splice-site intron inversion/3'-3' 1 2 0 115 5 high out-of-frame . . . . ENSG00000196950.14 ENSG00000225539.7 ENST00000409086.7 . downstream downstream . ^(AGTTGATCACTCTGAAGCTTTTTGGCTAAAGCGTTTGGGTTTAGAGCTTCCATTACTCATTCGCCTTGCCCAAGGCCTCAGCAACCGACGTTCGAAAGCCAGGAGAAAAGGCGAATGATAAAGGGCGCTCCACGCATGCGTTAAGAAGCCGCCCCAACTCCCCCGCGGCGTTCTTTCTTGGAACAAAACTAGCGCGGAGCCACGGAACTCCGCAGTTTGCGTAGACTTGAATTTCCTATTCCTCGGACGATCCATGTGGAATCC___GAAAAATAGAAATGAAGGTACATATGCACACAAAATTTTGCCTCATTTGTTTGCTGACATTTATTTTTCATCATTGCAACCATTGCCATGAAGAACATGACCATGGCCCTGAAGCGCTTCACAGACAGCATCGTGGAATGACAGAATTGGAGCCAAGCAAATTTTCAAAGCAAGCTGCTGAAAATGAAAAAAAATACTATATTGAAAAACTTTTTGAGCGTTATGGTGAAAATGGAAGATTATCCTTTTTTGGTTTGGAGAAACTTTTAACAAACTTGGGCCTTGGAGAGAGAAAAGTAGTTGAGATTAATCATGAGGATCTTGGCCACGATCATGTTTCTCATTTAGATATTTTGGCAGTTCAAGAGGGAAAGCATTTTCACTCACATAACCACCAGCATTCCCATAATCATTTAAATTCAGAAAATCAAACTGTGACCAGTGTATCCACAAAAAGAAACCATAAATGTGATCCAGAGAAAGAGACAGTTGAAGTGTCTGTAAAATCTGATGATAAACATATGCATGACCATAATCACCGCCTACGTCATCACCATCGTTTGCATCATCATCTTGATCATAACAACACTCACCATTTTCATAATGATTCCATTACTCCCAGTGAGCGTGGGGAGCCTAGCAATGAACCTTCAACAGAGACCAATAAAACCCAGGAACAATCTGATGTTAAACTACCGAAAGGAAAGAGGAAGAAAAAAGGGAGGAAAAGTAATGAAAATTCTGAGGTTATTACACCAGGTTTTCCCCCTAACCATGATCAGGGTGAACAGTATGAGCATAATCGGGTCCACAAACCTGATCGTGTACATAACCCAGGTCATTCTCATGTACATCTTCCAGAACGTAATGGTCATGATCCTGGTCGTGGACACCAAGATCTTGATCCTGATAATGAAGGTGAACTTCGACATACTAGAAAGAGAGAAGCACCACATGTTAAAAATAATGCAATAATTTCTTTGAGAAAAGATCTAAATGAAGATGACCATCATCATGAA___TGTTTGAACGTCACTCAGTTATTAAAATACTATGGTCATGGTGCCAACTCTCCCATCTCAACTGATTTATTTACATACCTTTGCCCTGCATTGTTATATCAAATCGACAGCAGACTTTGTATTGAGCATTTTGACAAACTTTTAGTTGAAGATATAAATAAGGATAAAAACCTGGTTCCTGAAGATGAGGCAAATATAGGGGCATCAG___CCTGGATTTGTGGTATCATTTCTATCACTGTCATTAGCCTGCTTTCCTTGCTAGGCGTGATCTTGGTTCCTATCATTAACCAAGGATGCTTCAAATTCCTTCTTACATTCCTTGTTGCATTAGCTGTAGGAACAATGAGTGGAGACGCCCTTCTTCATCTACTGCCCCAT___TCTCAGGGTGGACATGATCACAGTCACCAACATGCACATGGGCATGGACATTCTCATGGACATGAATCTAACAAGTTTTTGGAAGAATATGATGCTGTATTGAAAGGACTTGTTGCTCTAGGAGGCATTTACTTGCTATTTATCATTGAACACTGCATTAGAATGTTTAAGCACTACAAACAACAAAGA___GGAAAACAGAAATGGTTTATGAAACAGAACACAGAAGAATCAACTATTGGAAGAAAGCTTTCAGATCACAAGTTAAACAATACACCAGATTCTGACTGGCTTCAACTCAAGCCTCTTGCCG___GAACTGATGACTCGGTTGTTTCTGAAGATCGACTTAATGAAACTGAACTGACAGATTTAGAAGGCCAACAAGAATCCCCTCCTAAAAATTACCTTTGTATAGAAGAGGAGAAAATCATAGACCATTCTCACAGTGATGGATTACATACCATTCATGAGCATGATCTCCATGCTGCTGCACATAACCACCACGGCGAGAACAAAACTGTGCTGAGGAAGCATAATCACCAGTGGCACCACAAGCATTCTCATCATTCCCATGGCCCCTGTCATTCTGGATCCGATCTGAAAGAAACAGGAATAGCTAATATAGCCTGGATGGTGATCATGGGGGATGGCATCCACAACTTCAGTGATGGGCTCGCAATTG___GTGCAGCTTTCAGTGCTGGATTGACAGGAGGAATCAGTACTTCTATAGCCGTCTTCTGTCATGAA)CTGCCACATGAATTAG___GAGATTTTGCAGTTCTTCTTAAAGCAGGCATGACTGTAAAGCAAGCAATTGTATACAACCTCCTCTCTGCCATGATGGCTTACATAGGCATGCTCATAGGCACAGCTGTTGGTCAGTATGCCAATAACATCACACTTTGGATCTTTGCAGTCACTGCAGGCATGTTCCTCTATGTAGCCTTGGTGGATATG|GACTGCAGTGACCAGCAAATGTATCTACTTGCCAGATGTCAAGCTGGAACTCAGAGAATACACCATCTTTTGAGAAGAAGGAGCCCTGTGCTGTGACAGAGTATCGAGAGAAATTCAGAG MKVHMHTKFCLICLLTFIFHHCNHCHEEHDHGPEALHRQHRGMTELEPSKFSKQAAENEKKYYIEKLFERYGENGRLSFFGLEKLLTNLGLGERKVVEINHEDLGHDHVSHLDILAVQEGKHFHSHNHQHSHNHLNSENQTVTSVSTKRNHKCDPEKETVEVSVKSDDKHMHDHNHRLRHHHRLHHHLDHNNTHHFHNDSITPSERGEPSNEPSTETNKTQEQSDVKLPKGKRKKKGRKSNENSEVITPGFPPNHDQGEQYEHNRVHKPDRVHNPGHSHVHLPERNGHDPGRGHQDLDPDNEGELRHTRKREAPHVKNNAIISLRKDLNEDDHHHECLNVTQLLKYYGHGANSPISTDLFTYLCPALLYQIDSRLCIEHFDKLLVEDINKDKNLVPEDEANIGASAWICGIISITVISLLSLLGVILVPIINQGCFKFLLTFLVALAVGTMSGDALLHLLPHSQGGHDHSHQHAHGHGHSHGHESNKFLEEYDAVLKGLVALGGIYLLFIIEHCIRMFKHYKQQRGKQKWFMKQNTEESTIGRKLSDHKLNNTPDSDWLQLKPLAGTDDSVVSEDRLNETELTDLEGQQESPPKNYLCIEEEKIIDHSHSDGLHTIHEHDLHAAAHNHHGENKTVLRKHNHQWHHKHSHHSHGPCHSGSDLKETGIANIAWMVIMGDGIHNFSDGLAIGAAFSAGLTGGISTSIAVFCHELPHELGDFAVLLKAGMTVKQAIVYNLLSAMMAYIGMLIGTAVGQYANNITLWIFAVTAGMFLYVALVDM|dcsdqqmyllarcqagtqrihhllrrrspvl* 11BR016 ENSG00000160201.11 ENSG00000174175.17(13156),ENSG00000188404.10(47316) -/- ./- chr21:43104315 chr1:169643349 CDS/splice-site intergenic translocation 21 0 0 755 1 medium out-of-frame . Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%)| . . ENSG00000160201.11 . ENST00000291552.8 . upstream downstream duplicates(1) ^(CGTCGTCGCGTCCGGGTGACGTCTCCCGAGGGCGTCGGCAG)GGTCGGCGGCGTCGGCAGCAGTGTCGACGGCAGCGGCGGCGGCGGGTGGGAAATGGCGGAGTATCTGGCCTCCATCTTCGGCACCGAGAAAGACAA___AGTCAACTGTTCATTTTATTTCAAAATTGGAGCATGTCGTCATGGAGACAGGTGCTCTCGGTTGCACAATAAACCGACGTTTAGCCAG|AGATGTATCTCTAAAGAACGAATGATTGCAGAGACCTGGTATAATCATCATTGGAGGTAACATTCCCCTGAA MAEYLASIFGTEKDKVNCSFYFKIGACRHGDRCSRLHNKPTFSQ|rciskermiaetwynhhwr* 11BR016 ENSG00000171862.11 ENSG00000227905.1(8171),ENSG00000275015.1(201135) +/+ ./+ chr10:87952259 chr10:88057994 CDS/splice-site intergenic deletion/read-through 6 3 0 79 44 medium out-of-frame . C2_domain_of_PTEN_tumour-suppressor_protein(100%),Dual_specificity_phosphatase__catalytic_domain(100%)| . . ENSG00000171862.11 . ENST00000371953.8 . downstream upstream duplicates(1) ^(GTTCTCTCCTCTCGGAAGCTGCAGCCATGATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCCTCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTCTTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCGCGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGGTCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGGCTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGGAGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTCGCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGCCAAGTCCAGAGCCATTTCCATCCTGCAGAAGAAGCCCCGCCACCAGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCTCCCAGACATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCT___ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAG___GTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCT___TTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAG___TTGCACAATATCCTTTTGAAGACCATAACCCACCACAGCTAGAACTTATCAAACCCTTTTGTGAAGATCTTGACCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTACATCGGGGCAAATTTTTAAAGGCACAAGAGGCCCTAGATTTCTATGGGGAAGTAAGGACCAGAGACAAAAAG___GGAGTAACTATTCCCAGTCAG)AGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGACCAGTGGCACTGTTGTTTCACAAGATGATGTTTGAAACTATTCCAATGTTCAGTGGCGGAACTTGCA|ATGCCgTTTGGAGTAGCTACTTTGAGGACAAGAGACAAAAAGCCTGAGGAGAAAGTCACCATGAAGGAAACAGAAAGAcTAAACAGCATGCGTGATCTTTGATTCAGAGTCCCCATCTCACCCTGGACTGCCTTCCTTTGGAATTCCC MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRTRDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTC|navwssyfedkrqka* 11BR016 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51877282 chr19:51855967 CDS/splice-site intergenic deletion/read-through 4 1 0 51 30 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCC)ACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAGACCATCAGCCTTCAACCACCACCCTTGTATCAGAGGAGACAAATAAGC MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|dlhyrwktaasepq* 11BR016 ENSG00000139687.15 ENSG00000285733.1 +/+ -/+ chr13:48458407 chr6:169430566 intron intron translocation/5'-5' 2 3 0 4 9 medium . . Domain_of_unknown_function_(DUF3452)(100%),Retinoblastoma-associated_protein_A_domain(100%),Retinoblastoma-associated_protein_B_domain(100%)| . . ENSG00000139687.15 ENSG00000285733.1 . . downstream upstream . CAAAAGTAGTGTGTTGTTGCCTACTGCAGACACATTTCCTGGATATTTTCAGGACATTTAAGAAGGCCAGTAACCAGGTCATGTAGCATTCTCTGAGTGTGTATATAT[at]GGTGGGGTGGGGAGGTTGATTTGAGTGTCTGTGCATGCGTATATACTTCCTAGTGCATATCCACTTGGAGCTCTTTGAAAGACAGTAAAAGGTCATGTTCCTCCATG|TTCAAATGGAAAGCTGTAGCTTCCACAAGGATGAAGAAGGAAAACAGGAACATCATAACTTGGAAGAAACTTTACCGACACTTTCAAACGAGGCTCCACTTGTCAGGGCAGATCCCAGCTCATTCTCTGGCACAGAGCTGTCCTCATC . 11BR016 ENSG00000139687.15 ENSG00000272848.2 +/+ -/+ chr13:48458407 chr6:169430566 intron intron translocation/5'-5' 2 3 0 4 9 medium . . Domain_of_unknown_function_(DUF3452)(100%),Retinoblastoma-associated_protein_A_domain(100%),Retinoblastoma-associated_protein_B_domain(100%)| . . ENSG00000139687.15 ENSG00000272848.2 . . downstream upstream . CAAAAGTAGTGTGTTGTTGCCTACTGCAGACACATTTCCTGGATATTTTCAGGACATTTAAGAAGGCCAGTAACCAGGTCATGTAGCATTCTCTGAGTGTGTATATAT[at]GGTGGGGTGGGGAGGTTGATTTGAGTGTCTGTGCATGCGTATATACTTCCTAGTGCATATCCACTTGGAGCTCTTTGAAAGACAGTAAAAGGTCATGTTCCTCCATG|TTCAAATGGAAAGCTGTAGCTTCCACAAGGATGAAGAAGGAAAACAGGAACATCATAACTTGGAAGAAACTTTACCGACACTTTCAAACGAGGCTCCACTTGTCAGGGCAGATCCCAGCTCATTCTCTGGCACAGAGCTGTCCTCATC . 11BR016 ENSG00000198040.10 ENSG00000256551.2 +/+ -/+ chr12:133037545 chr12:128089051 5'UTR/splice-site intron duplication/5'-5' 0 3 0 3 11 medium . . . . . ENSG00000198040.10 ENSG00000256551.2 ENST00000392319.6 . downstream upstream . ^(ACTCTTGGTAATGCTTGCAGGTGGCCCGTTCTTCCTCTTTGTCCTTCGCTGCCACGTGAGAGGGGAGTGTACGCGTGTGCGCGCGTGCGAGTGTGCGCGTGTGCAGTCCCCGACTCGTCCCGGCCCGTTCGGAGCCGCCCGGGAGCGCACAAAGGCCGACGGTTTGGGCGCGTGCGCGGGACACGGGGGACG)GGCGGTGTCACGTGATCGCGAGGCCGCGGGCGCGCGGGCGCGACTCGGCGGCGGCGTCTTTT|ATGCTGCATTTGCTTCTAAAGTGGAAACCCAGCCAGGGCAATGTTGAAGGCAGGCAGCTGCCAATGGTGGGATGCCAGGCATCTGAGCATAAACCTGAGCCCAGAAGGATGGGGATGGCCTGCCAGGACAgTCAACTGCAGAAGACAGGGCTTCCTG___CTCTCCAATTCCCAAATTAGAAAAACCATCAGCTCTGAATGGC . 11BR016 ENSG00000287946.1(110164),ENSG00000278716.1(26688) ENSG00000168952.15 ./+ -/- chr16:85463125 chr14:24974850 intergenic 5'UTR/splice-site translocation 0 3 0 1 63 medium . . |Exocyst_complex_component_SEC3_N-terminal_PIP2_binding_PH(100%),Synaptobrevin(100%) . . . ENSG00000168952.15 . ENST00000323944.9 downstream downstream . ACCTGGTCGTCTCTGCTCCAGAACCTCA|ATTCACTGCGTGCTGTCCTCACTTGTTCTACAATGAGTGCCAAATCTGCTATCAGCAAGGAAATTTTTGCACCTCTTGATGAAAGGATGCTGGGAGCTGTCCAAGTCAAGAGGAGGACAAAGAAAAAGATTCCTTTCTTGGCAACTGGAGGTCAAGGCGAATATTTAACTTATATCTGCCTGTCAG___TGACAAACAAGAAACCCACA(CAGGCGTCCATCACAAAGGTCAAACAGTTTGAAGGCTCCACATCATTTGTTCGGAGATCACAGTGGATGCTCGAGCAGCTTCGCCAGGTTAATGGTATCGATCCTAATGGG___GATTCGGCAGAGTTTGATTTGTTGTTTGAAAATGCTTTTGACCAGTGGGTAGCCAGCACAGCGTCAGAAAAATGCACCTTCTTCCAGATCCTCCACCATACCTGCCAGAGGTACCTCACGGACAGGAAGCCAGAGTTTATTAACTGCCAATCCAAAATTATGGGAG___GAAACAGCATCCTCCATTCAGCTGCTGACAGCGTGACCAGCGCAGTGCAGAAGGCAAGCCAGGCCTTGAATGAGCGTGGAGAGCGATTAGGCCGAGCAGAGGAGAAGACAGAAGACCTGAAGAACAGCGCCCAGCAGTTTGCAGAAACTGCGCACAAG___CTTGCCATGAAGCACAAATGTTGAGAAACTGCCTATCCTGGTGACTCTTCTTAAGAGAAACTGAAGAGTTTGTTCAGCAGTTTTTACAAGAATTCGGGACCTCCGCTTGCTTCTTTTTTTCCAATATTTGGACACTTAGAGTGGTTTTTGTTTTTTCTTTTCAGATGTTAATGTGAAAGAAAGGGTGTTGCATTTTTACATTTCCCTAATGATCTTGCTAATAAATGCTACAATAGCATCAGCTTCATTTTGGGTTTTTGCCTCCTCCCACTGTGTGTATGTGTGTATATGTATGTTTTGAATATGTTTTCTTTATTAAAAAATATTTTTTGTAGTTTGAATATGAAATTTGGACCAAATGATAAACTGCGCTGAGTCTAAACTGGCAACATGTATTTTTTTCTCTGATATTAAGCAGGAAGGCATTTTAATGTGGTGACATCAGATGTTATTTTTCCTAGATGAAAATAAAAGTCAAGCAGTGATTAGTTTCACTCACTGTCCTAGCTACACTTAATTTGAAGATTAAAATTCTACATTGTGGAAAACAATTGAATTTATTGGGAAAAACAGCAGTCTTAGATTTTGCTCCTTGCATAGTAATCTTTTGCATGAACCATCACCAGCGTTCAAAAAAAAAAAAAAATCAGAATCGCAGATAGAAATCTCTTTCCTGAGTTACAGTTTAAATACTCTTGCTACTTGTATCCAGGGTGTTTACTTGGAATTATCATATGAAGGGTAAAAATTTGAGAGTAAAGCCCTAAAGAAAAGCCTACCTAAAACCCTCTGTGTACTCACAGATGTTTCTCTTGTCACTGTCATAGTGATGGTCGCTGGTATGGAAAAGTGCTTATATTTTTATCAAAAAATTGATTTGTCCAGGTAAAGGTCTGTGTCAATGATAATGTGAACAAGTAGTACATTTAAAATGTTTGTCTTGTCTTTTTACAGTCATGCCTATTTTAGAGACACCTTCATAATGTCCTTGGGAGAGGGCCTTTAGTTTCTTGGTATCTGGATTTTGGAGGTTTTGATGTTGTTTTTGCTATCTATTTATTTAATGTAATTTAATATGTGAGTTTCTTGACAAATTGCATTTCATGGCAATTGCACCTTGCCTGGTCTGATATAAAACACCACAATCACAAACCTTTACATTGCAGTCAGTTTCAATACAGTTGGTCACACACCTCGTGATTTTCTATTACTCAAGATAATAAGGGGCTTAGGGTCTAGAAGTTCTGTTTCCTAGAGGGTTAAAATGCTAAACATAAAAAAAGCTGTGCTTTTTTTGTGAAACTAGGAGACAAGCTGCACATCTCAGACACATTGTAAGCCTACCACTGCAGCGCATTGATTTTTAAGCTGCCTGAATCTTCAGGACCCCTATCTATTCCATCCTATCCATTTTGCTGATTGAGTCGATATGTATTGCAGCCTCTTACATAGGAGCATAAGATGACTTTTGGATTGTTAATACTGATTTAAATAGCTGAAGTTCTCCTAATAAAGCATTCCCAAGGAGAGAGAAAGTTTGTCTACTGGGGGTAAAAATATCAGATGGTGCACATTAAAAGGGAGATGAGATTTGTCGGAGACAGATTTCAGAATCCTTTTAGATGATCCAATTCAAGAAAACCCTCTATAAAATTTAATAAACTGTATAAGTTAACTATAATATTTTATACTTTCTTTTTGGTGTCTTAAAAATTTAAAGAAGCGAGGAACATGCCATTTGGTGAGTACCGTTGGAAGCTATTTTAATTTCTAGGAAAAGCCCCAAATATCACTCCAAATAGATTTTGTTTGCAGATCTCAGTTCAGAATGCACACACACACACACACACACACACACACACACACAGAGATGTATTTATCTTTCCAAATTGGATTCTGGTTTCAGAGATAGAGAGTTGGTATAAATAATTGAAAGGATAAATCTAAAACCCCCTGACAGTCCGCCAAATTCAAGAACAGAAGTGGTTGCCAACTCTCTAACAACAATGTTTGGGAAGCTGATTCCAAAGTAGCTGAGGATGAGGTCATAAGCATACTGTGAAACCCAAGATTCTTCTTCCCTGGTAGAATTACAATAGTTACTCTTGATAAATATAAGTATTCCATGTCTTGCCCTCTTTCCTCACTCTCTGCTTATCCTTTTAGACCTAAGTTTCATTGGAAATAGCCTGAATTAGAAGAAAGCCCATCCGAATCTTTATTAGCCCCCTCTAATGATTAGTTTCCAGGCTGCGTTCATACCTTTGACCTCTCAGTGTCAAAGTCCTACCTAGGCCTCCCCACAACAGAGAGGGCCGTAACAGCAATCCCTGCCCCTCCTTTACCTCCCAGCCTCTTGCAGAGGAGCCCAGTGATAACACATGTGAAGTTCTTTGCTGTCCTCTTGTAGAAGGTGCTGCAGTGCAAAGTATTAATACGGTCTTAGACAAAATAACTGTCATGATTTGGGACCAGTTTGGTTGAGCTTGTCAGAAGACATTTCATTTGTTTCATTTCTGCACTTCTCTATGAATTTTGGGATACTATATTTCTGTGAAGGACTTATTGTATAGACAACTCAAAAAGGAAAGAAACTTTCCAGTATTACCACTTCTTCCTGGAATATAGCTGTAGTATTTCTCACTAGTATTATTAGATACCTGTGTACAGAAAGTATGCAGTTATTCAGGTTAATGTTTCATATTAAAGAATGTATTTGTAAAATGTAACATGATCAGTAGTTACCTTTTTTCAAGCTCTGAAGAAGTTCAGATTACGTGTTAGACTTAAGTTACAGTGAAAACTGTTTTAATACTACTTTTGTGGCTAGCAAAGGTTGTGCATCTATTTAAAATTATTTACAGGATGCTCTAAATAAGGGGCATTAAAGATAGGTTTAGCTCTTAATTTTAGAAATTGTGACACTACTGATGTCTGTCATACAGTTATTCTTCAGAAGTTCTCTGAGATGTCAAATATAATTTTTGTTTAATTCAGAGATAAGTAACACCTGCTCTATTGATTCACTATTACAACAAACCCTAATTTTGTCATTAAATATTTTAACTCTG)$ . 11BR016 ENSG00000160201.11 ENSG00000174175.17(44215),ENSG00000188404.10(16257) -/- ./- chr21:43104315 chr1:169674408 CDS/splice-site intergenic translocation 3 0 0 755 4 medium out-of-frame . Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%)| . . ENSG00000160201.11 . ENST00000291552.8 . upstream downstream . ^(CGTCGTCGCGTCCGGGTGACGTCTCCCGAGGGCGTCGGCAGGGTCGGCGGCGTCGGCAGCAGTGTCGACGGCAGCGGCGGCGGCGGGTGGGAAATGGCGG)AGTATCTGGCCTCCATCTTCGGCACCGAGAAAGACAA___AGTCAACTGTTCATTTTATTTCAAAATTGGAGCATGTCGTCATGGAGACAGGTGCTCTCGGTTGCACAATAAACCGACGTTTAGCCAG|CaGGTCTGAGGAAAAGAAAAAGCTGATGTCCAAATGAGGAAAAAAAATTACAGTGAATCTTTCCATAAGACTTACCTTTGCAGTGGAACTACATAAAAATTGAGAACTACTCC MAEYLASIFGTEKDKVNCSFYFKIGACRHGDRCSRLHNKPTFSQ|qv* 11BR016 ENSG00000177951.17 ENSG00000176715.17 -/- +/+ chr11:180209 chr16:89154090 CDS/splice-site CDS/splice-site translocation 3 0 0 17 36 medium out-of-frame . |AMP-binding_enzyme_C-terminal_domain(100%) . . ENSG00000177951.17 ENSG00000176715.17 ENST00000410108.5 ENST00000317447.9 upstream upstream . ^(GCCACGTCTGAGGCGGCTGTGGCCGCGTCGGTGTCCGCGTCGAGGAGCCGGGGCAGGGCACGATGGCGGACTGGGCTCGGG___CTCAGAGCCCGGGCGCTGTGGAAGAGATTCTAGACCGGGAGAACAAGCGAATGGCTGACAGCCTGGCCTCCAAAGTCACCAGGCTCAAATCG___CTCGCCCTGGACATCGATAGGGATGCAGAGGATCAGAACCGGTACCTGGATGGCATG___GTATTTCAGGACAGCCAGGAGGGGGCGCACATCCGCCGAGAAACT)GTGAGCAAGAGCGTCTGTGCTGAACCATGGCGCCACCAGAGGGCGCGCGATCCCGCCCCAACCAACTTCCCGCTGAAGTGCCAGAAGCAGCGAGGAGCTTCAACTTCCTCAGGGCAGCACGGGGGTCGTGTTAATTTGGTGTTCTTCATTG|AAATGTCCTGGCCCCGTACGCGGTGCCCTCGGAGCTGGTGCTGGTGGAGGAGATCCCGCGGAACCAGATGGGC(AAGATTGACAAGAAGGCGCTCATCAGGCACTTCCACCCCTCATGACCCGGCAGACTGGGACTGCGGGTCTGGTGGGGAGCAGCAGACGTCCCCTTCACACCGAGAACCACGGGGGCCCGTCCAAGACCTGGCCTCCCTTAAACCTGAACCCCCCAAATCAGGTCACGTAGAATCAAGAACTGTTTGGGATGAAATCACCATGTGGGGTCCCCAGCCTCGGGCCAGTTGTTGCAGCTCAAGGAGACCGTCCCTGGTGTCACCTCTGCCTGGTCACCGCCGACCTCATCTGTGCAGCGCGGTGCAGCCAGCCCCTGGCCCCACGTGCTGAGGCACCTCCCGCCCCACAGTGCCCTGCAGTTGCCAGGCTCTCCAGGGCAGGTCCCAGAGGTTTCCCACAAAAAACAAAGACTCCACTGGAGGAAACAAGCCCCTGTCCCACGCCGTCTGCACGTGCCTGTGCCTCACCCAGAGCCAGTGTCTCCCGGCCCACATAGGAGGTCTGGGCAGCCACCCAGGGGGCCCTCCTGGGAGGAGCTGAGGGTTCACAAGCCTCCCAGAACCAGCCCTGTCCCATGGGTTCCGTGCATTTCCTGGTGCTGCTCTTGGAGGAGAGCAGCTCCCACTGTGGGGACACCTGCCACCCTGCACACTACTGTGTGTCCATCAGCATGTGTCACAGAAAGTGCGTGGACGGATGGCCCCGGAGCTGCTCTGCCGTGACCCTGCCTCACCCCCCAGCGCAGGGACTTTCCAGGTCATCTCCACACCAGCCCCTCAGCCGGTGAACCCTCTCTCCCATCACCGTCTCCACCCAGACCCCCACCTGCCCCATGGCCCCCATTTCATGTCTGTGGCTCACCAGCTTTTCCCCAGACCCAGCTCCGGAGCCCACAGGCGTGGCCGATGCAGAAACCTCAGGAAGGTGTGTTGTGAATGTTGGGTGCACCCACGTTGCATTTACTTAGCGGGGCCAATTCAGATGCACAGGGGCCACATGCAGAATCCAGAAGTTTCTGGACAATTTTCAGAAGAATAGGCTGCCTCCTCCCCACAGCCTGGGGGAAGTAACAGTCATCGCCCAGCAGTGTCTGGCCTGAACTTACCCAGAACATTCTGCCCCCGGAATGCACGTCTGAAAGAGTGGCCAGAAACGAGTGTGCCGGGCAGGAGGCCAGCCCCATCTCAGGCTCACGTGCCTCTGACAGGAGACCAGCCCCATCTCAGGCTCACATGCCTCGCGGACAGTTGGACGTGGCCTGGGGCCCCTGCTCACTTGAGCATGTCGCCCACCAAGCTTGTCTGAGGCCACAGAGCAGCGTCCCAGCCCTGTTTTCCAGGACTGGTGGGTGCCCCAGTCCACGGCCCTGCCCCACCCGAACTCCTGCCTCACGGTGTGGCCTTGTGCATCCCCATGGCCTGACCCCGGGAACAGTCAGAGGAAGGGGTCCCGCCCTCCCGCCAGAGGCCTGGACCCAAGGGAACGGCAGTCAGAGACTACAGTCCAGACGTTTGTGTCTAGGCCTTGCTGGTAGCTAAGGAAATGCCTTCTGTTGGGAAAAGGTCAAATTTAACATAGCAAAATTTTTACTTAATTCCACTAATTTTACATTTGCATCTCTCTCCTTTAATCCTGAAACTTTTGATTCCTAAAAAGCTTACATAATCATTTGCTTTATCCGATAGTATACATCAGTATATCATGCTTTCGAAATAATGAGTGTAACTTTCTGCTGACAATACTACAAACTACAGAAAGCCTGGAGCTCATTGACCAGAAACTGCAGAGAGCCTGGAGCTCGTTGACCACAAACTACAGAAAGCCTGGAGCTCGTTGACCAGCCGGTTGACCAGAATACGGTGCTCCAAGGACATGCGGTTGAATGCCGTGTTCTAAAGTCACGAGTGACTCTCCAGCTGGTCCCTGTGCCAGGCTGGTCGGCCTTCGTGCACACAGTCCGCCAGTGCCCAGCCAGGCCCCTGGTTCCCCTCTGCTCCACCAGCCGAGAACAAGCCCGTCCTGGAGGGAACTCATCCTCTCCTCCCTCCCCATTAAAGCCCAGTTTATTCCCCA)$ MADWARAQSPGAVEEILDRENKRMADSLASKVTRLKSLALDIDRDAEDQNRYLDGMVFQDSQEGAHIRRETVSKSVCAEPWRHQRARDPAPTNFPLKCQKQRGASTSSGQHGGRVNLVFFI|emswprtrcprswcwwrrsrgtrwarltrrrssgtstphdpadwdcgsggeqqtspshreprgpvqdlaslkpeppksghvesrtvwdeitmwgpqprasccssrrpslvsplpghrrphlcsavqpapgptc* 11BR017 ENSG00000003056.8 ENSG00000256577.2 -/- +/+ chr12:8943405 chr12:204640 CDS/splice-site exon/splice-site inversion 47 40 3 309 149 high out-of-frame . Mannose-6-phosphate_receptor(100%)| . . ENSG00000003056.8 ENSG00000256577.2 ENST00000000412.8 ENST00000539568.2 upstream upstream . ^(AGAGTGGGGCACAGCGAGGCGCTAGGGGGAACGCTGGCCTCTGAAACTAGCTCTGGGACCGGGGTCTGCGGCCGGCCCCTAGCTGGCCCCGTCTCCCATCCCCAGAAGGGTATTCACTGGGGATTCTGAGCTTTGGCTACTCCAGTTTCCCACGACAC___GATGTTCCCTTTCTACAGCTGCTGGAGGACTGGACTGCTACTACTACTCCTGGCTGTGGCAGTGAGAGAATCCTGGCAGACAGAAGAAAAAACTTGCGACTTGGTAGGAGAAAAGGGTAAAGAGTCAGAGAAAGAGTTGGCTCTAGTGAAGAGGCTGAAACCACTGTTTAATAAAAG___CTTTGAGAGCACTGTGGGCCAGGGTTCAGACACATACATCTACATCTTCAGGGTGTGCCGGGAAGCTGGCAACCACACTTCTGGGGCAGGCCTGGT)GCAAATCAACAAAAGTAATGGGAAGGAGACAGTGGTAGGGAGACTCAACGAGACTCACATCTTCAACGGAA___GTAATTGGATCATGCTGATCTATAAAGGGGGTGATGAATATGACAACCACTGTGGCAAGGAGCAGCGTCGTGCAGTGGTGATGATCTCCTGCAATCGACACACCCTAGCG___GACAATTTTAACCCTGTGTCTGAGGAGCGTGGCAAAGTCCAAGATTGTTTCTACCTCTTTGAGATGGATAGCAGCCTGGCCTGTTCACCAGAGATCTCCCACCTCAGTGTGGGTTCCATCTTACTTGTCAC|GAAGAACACCGGGATGCCGCAGACAAAGAAGAAGATGAAGTAGGGGATGAAGAAGGCTCCTGCAGAAGAGAGAGAGGCAGGGCTGAGCCACACCCGGGCTCTTCCTCAGCCTCCATCCTTTCAGACCCTCCTCCCCCAACAAACCCGCCCTCCACCATCCTGTTCTTAATCTCCCTCCTGACACTTTCCAAGGGCCCACTCCTGCCTGCGTGCAGTCCTGAGTGTTAGGCAGGCACAGGTGGGAATGTTCTGATCTGAACCCTACACAGAATGAGAAAGGCCTTGGAAGGGAAATTAGTGAAAACTTAGGTGGAAATTCTAATATATGCA(CTATTTATTTTCTTAGTGTGCTTTACAAATCTAGTCAATAGATTATTTTTGGAATAAACACATGGCTTCTGTATAACTTGATATGCTTATTAAACTCTTGGTACATTTTAGAGAAAAACAAACAC)$ MFPFYSCWRTGLLLLLLAVAVRESWQTEEKTCDLVGEKGKESEKELALVKRLKPLFNKSFESTVGQGSDTYIYIFRVCREAGNHTSGAGLVQINKSNGKETVVGRLNETHIFNGSNWIMLIYKGGDEYDNHCGKEQRRAVVMISCNRHTLADNFNPVSEERGKVQDCFYLFEMDSSLACSPEISHLSVGSILLVt|kntgmpqtkkkmk* 11BR017 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 17 3 0 147 45 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTT)GGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR017 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 9 0 19 21 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1),mismatches(1) GACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCG(CTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR017 ENSG00000154198.14(5532),ENSG00000187048.13(23211) ENSG00000186377.8 ./+ +/+ chr1:46905969 chr1:47029990 intergenic CDS/splice-site deletion/read-through 7 10 0 22 32 high . . |Cytochrome_P450(100%) . . . ENSG00000186377.8 . ENST00000371901.4 downstream upstream . CAACATTCTACTTTGCATAGGAGGTTCAGCTCATTCTTTCCCTTAAAATGGGAAGATAAAGGGATTACCCTCCCCGCCGCCCGAGGCCTCATATGATATTCCCCATTCTGAGCCCAGAACACCCAGAACTTTGGAAATTGGCTATTGCCATGTCCAGACT|TTTATTCAGGATGATAACATGGAGAAGCTTGAGGAAATTATTGAAAAATACCCTCGTGCCTTCCCTTTCTGGATTGGGCCCTTTCAGGCATTTTTCTGTATCTATGACCCAGACTATGCAAAGACACTTCTGAGCAGAACAG___ATCCCAAGTCCCAGTACCTGCAGAAATTCTCACCTCCACTTCTTG___GAAAAGGACTAGCGGCTCTAGACGGACCCAAGTGGTTCCAGCATCGTCGCCTACTAACTCCTGGA(TTCCATTTTAACATCCTGAAAGCATACATTGAGGTGATGGCTCATTCTGTGAAAATGATGCTG___GATAAGTGGGAGAAGATTTGCAGCACTCAGGACACAAGCGTGGAGGTCTATGAGCACATCAACTCGATGTCTCTGGATATAATCATGAAATGCGCTTTCAGCAAGGAGACCAACTGCCAGACAAACAG___CACCCATGATCCTTATGCAAAAGCCATATTTGAACTCAGCAAAATCATATTTCACCGCTTGTACAGTTTGTTGTATCACAGTGACATAATTTTCAAACTCAGCCCTCAGGGCTACCGCTTCCAGAAGTTAAGCCGAGTGTTGAATCAGTACACAG___ATACAATAATCCAGGAAAGAAAGAAATCCCTCCAGGCTGGGGTAAAGCAGGATAACACTCCGAAGAGGAAGTACCAGGATTTTCTGGATATTGTCCTTTCTGCCAAG___GATGAAAGTGGTAGCAGCTTCTCAGATATTGATGTACACTCTGAAGTGAGCACATTCCTGTTGGCAGGACATGACACCTTGGCAGCAAGCATCTCCTGGATCCTTTACTGCCTGGCTCTGAACCCTGAGCATCAAGAGAGATGCCGGGAGGAGGTCAGGGGCATCCTGGGGGATGGGTCTTCTATCACTTG___GGACCAGCTGGGTGAGATGTCGTACACCACAATGTGCATCAAGGAGACGTGCCGATTGATTCCTGCAGTCCCGTCCATTTCCAGAGATCTCAGCAAGCCACTTACCTTCCCAGATGGATGCACATTGCCTGCAG___GGATCACCGTGGTTCTTAGTATTTGGGGTCTTCACCACAACCCTGCTGTCTGGAAAAACCCAAAG___GTCTTTGACCCCTTGAGGTTCTCTCAGGAGAATTCTGATCAGAGACACCCCTATGCCTACTTACCATTCTCAGCTGGATCAAG___GAACTGCATTGGGCAGGAGTTTGCCATGATTGAGTTAAAGGTAACCATTGCCTTGATTCTGCTCCACTTCAGAGTGACTCCAGACCCCACCAGGCCTCTTACTTTCCCCAACCATTTTATCCTCAAGCCCAAGAATGGGATGTATTTGCACCTGAAGAAACTCTCTGAATGTTAGATCTCAGGGTACAATGATTAAACGTACTTTGTTTTTCGAAGTTAAATTTACAGCTAATGATCCAAGCAGATAGAAAGGGATCAATGTATGGTGGGAGGATTGGAGGTTGGTGGGATAGGGGTCTCTGTGAAGAGATCCAAAATCATTTCTAGGTACACAGTGTGTCAGCTAGATCTGTTTCTATATAACTTTGGGAGATTTTCAGATCTTTTCTGTTAAACTTTCACTACTATTAATGCTGTATACACCAATAGACTTTCATATATTTTCTGTTGTTTTTAAAATAGTTTTCAGAATTATGCAAGTAATAAGTGCATGTATGCTCACTGTCAAAAATTCCCAACACTAGAAAATCATGTAGAATAAAAATTTTAAATCTCACTTCACTTAGCCGACATTCCATGCCCTGACCAATCCTACTGCTTTTCCTAAAAACAGAATAATTTGGTGTGCATTCTTTCAGACTTTTTCCTATACATTTTATATGTAGAAATGTAGCAATGTATTTGTATAGATGTGATCATTCCTATATTGTTATTGATTTTTTTCACTTAATAAAAATTCACCTTATTCCTTA)$ . 11BR017 ENSG00000003056.8 ENSG00000111181.12 -/- -/+ chr12:8943405 chr12:205136 CDS/splice-site intron inversion/5'-5' 6 7 1 309 26 high out-of-frame . Mannose-6-phosphate_receptor(100%)| . . ENSG00000003056.8 ENSG00000111181.12 ENST00000000412.8 . upstream upstream . ^(AGAGTGGGGCACAGCGAGGCGCTAGGGGGAACGCTGGCCTCTGAAACTAGCTCTGGGACCGGGGTCTGCGGCCGGCCCCTAGCTGGCCCCGTCTCCCATCCCCAGAAGGGTATTCACTGGGGATTCTGAGCTTTGGCTACTCCAGTTTCCCACGACAC___GATGTTCCCTTTCTACAGCTGCTGGAGGACTGGACTGCTACTACTACTCCTGGCTGTGGCAGTGAGAGAATCCTGGCAGACAGAAGAAAAAACTTGCGACTTGGTAGGAGAAAAGGGTAAAGAGTCAGAGAAAGAGTTGGCTCTAGTGAAGAGGCTGAAACCACTGTTTAATAAAAG___CTTTGAGAGCACTGTGGGCCAGGGTTCAGACACATACATCTACATCTTCAGGGTGTGCCGGGAAGCTGGCAACCACACTTCTGGGGCAGGCCTGGTGCAAATCAACAAAAGTAATGGGAAGGAGACAGTGGTAGGGAGACTCAACGAGACTCACATCTTCAACGGAA___GTAATTGGATCATGCTGATCTATAAAGGGGGTGATGAATATGACAACCACTGTG)GCAAGGAGCAGCGTCGTGCAGTGGTGATGATCTCCTGCAATCGACACACCCTAGCG___GACAATTTTAACCCTGTGTCTGAGGAGCGTGGCAAAGTCCAAGATTGTTTCTACCTCTTTGAGATGGATAGCAGCCTGGCCTGTTCACCAGAGATCTCCCACCTCAGTGTGGGTTCCATCTTACTTGTCAC|GGTGTTTGTTGCCTCCACCCAGTTCTGATCTGAACTGGGCTCCCAGCAGAGAAGGCCATCACGTGATTAGGTGCCAACCTGCAGGTGCCAGAGGGAGGCCAGGCCTAACAGACATCCAGCAGGTTACACAGGAATGGAATCTGAAGACCACACCCAGGAGACCCACTTCAGTAGGAGTCACTAAGGCATAAAGCTCGAGTGAGAAGTTCATCTCAGGGTGAATGGATTATTGCGTGTTACACCATGAGAACGCTGAGTGCTTATTTGGTGCCTACTTCATGTCAGGCACTCTTGTACGTACTTCATCAACATCACAGTCCTTGCAAAACAACCTCC MFPFYSCWRTGLLLLLLAVAVRESWQTEEKTCDLVGEKGKESEKELALVKRLKPLFNKSFESTVGQGSDTYIYIFRVCREAGNHTSGAGLVQINKSNGKETVVGRLNETHIFNGSNWIMLIYKGGDEYDNHCGKEQRRAVVMISCNRHTLADNFNPVSEERGKVQDCFYLFEMDSSLACSPEISHLSVGSILLVt|vfvastqf* 11BR017 ENSG00000183762.12 ENSG00000186998.16 +/+ +/+ chr22:29142100 chr22:29254203 CDS/splice-site CDS/splice-site deletion/read-through 9 3 0 64 15 high in-frame . CUB_domain(100%),Kringle_domain(100%),WSC_domain(100%)| . . ENSG00000183762.12 ENSG00000186998.16 ENST00000400335.8 ENST00000334018.11 downstream upstream duplicates(1) ^(CGCGCTGCCCCCTTTACCCCGGGCCGCGCCCCGGGGCCCCGCACTGACGGCCCATGGCGCCGCCAGCCGCCCGCCTCGCCCTGCTCTCCGCCGCGGCGCTCACGCTGGCGGCCCGGCCCGCGCCTAGCCCCGGCCTCGGCCCCGGACCCG___AGTGTTTCACAGCCAATGGTGCGGATTATAGGGGAACACAGAACTGGACAGCACTACAAGGCGGGAAGCCATGTCTGTTTTGGAACGAGACTTTCCAGCATCCATACAACACTCTGAAATACCCCAACGGGGAGGGGGGCCTGGGTGAGCACAACTATTGCAG___AAATCCAGATGGAGACGTGAGCCCCTGGTGCTATGTGGCAGAGCACGAGGATGGTGTCTACTGGAAGTACTGTGAGATACCTGCTTGCCAGA___TGCCTGGAAACCTTGGCTGCTACAAGGATCATGGAAACCCACCTCCTCTAACTGGCACCAGTAAAACGTCCAACAAACTCACCATACAAACTTGCATCAGTTTTTGTCGGAGTCAGAGGTTCAAG___TTTGCTGGGATGGAGTCAGGCTATGCTTGCTTCTGTGGAAACAATCCTGATTACTGGAAGTACGGGGAGGCAGCCAGTACCGAATGCAACAGCGTCTGCTTCGGGGATCACACCCAACCCTGTGGTGGCGATGGCAGGATCATCCTCTTTGATA___CTCTCGTGGGCGCCTGCGGTGGGAACTACTCAGCCATGTCTTCTGTGGTCTATTCCCCTGACTTCCCCGACACCTATGCCACGGGGAGGGTCTGCTACTGGACCATCCGGGTTCCGGGGGCCTCCCACATCCACTTCAGCTTCCCCCTATTTGACATCAGGGACTCGGCGGACATGGTGGAGCTTCTGGATGGCTACACCCACCGTGTCCTAGCCCGCTTCCACGGGAGGAGCCGCCCACCTCTGTCCTTCAACGTCTCTCTGGACTTCGTCATCTTGTATTTCTTCTCTGATCGCATCAATCAGGCCCAGGGATTTGCTGTTTTATACCAAG___CCGTCAAGGAAGAACTGCCACAGGAGAGGCCCGCTGTCAACCAGACGGTGGCCGAGGTGATCACGGAGCAGGCCAACCTCAGTGTCAGCGCTGCCCGGTCCTCCAAAGTCCTCTATGTCATCACCACCAGCCCCAGC)CACCCACCTCAGACTGTCCCAG___GATGGACAGTCTATGGTCTGGCAACTCTCCTCATCCTCACAGTCACAGCCATTGTAGCAAAGATACTTCTGCACGTCACATTCAA___ATCCCATCGTGTTCCTGCTTCAGGGGACCTTAGGGATTGTCATCAACCAGGGACTTCGGGGGAAATCTGGAGCATTTTTTACAAGCCTTCCACTTCAATTTCCATCTTTAAGAAGAAACTCAAGGGTCAGAGTCAACAAGATGACCGCAATCCCCTT|GGGGAGGGGTTGCACCAGCTACGCGAGGCTTTGAAGATTTTAGCTGAGAGGGTTTTAATCTTGGAAACAATGATTGGGCTCTATG___AACCAGAGCTGGGGTCTGGGGCGGGCCCTGCCGGCACAGGCACCCCCAGCCTCCTTCGGGGCAAGAGGGGCGGACATGCAAC(CAACTACCGGATCGTGGCCCCCAGGAGCCGGGACGAGAGAGGCTGAGGGTGGTGGCGGCCCCTGAGGCAGACCAGGCCAGGCTTCCCCTCCTACCTGGACTCGGCCAGCTGCCTCCAGGGACCGCCCGTCCATATTTATTAATGTCCTCAGGGTCCCTTCTGCCATCTAGGCCTTAGGGGTAAGCAGGTCTCAGTCCTGGCACCATGCACATGTCTGAGGCTGAGCAAGGGCTGAGAGGAGAGGCTTGGGCCTCAGTTTCCCTCTGTGAAGTGGGGGGAGGCAGGCCTTCAAGGAGGGATAGAGGTACAAGGCTTCGTCTCATCTGCTGTCTGAGCATCCAGGCCCAAAGGCACTGAGGGAGTCAGGAGCTGGGGCTCGGCACATGCAGAGATGACAGGGCAGGGGGCAGTCTTCCTCCCCCTCCCCGACCAAACCTCGGGGAGCCCTCCTGTGCCCCTCCCTCCTTGTTGTCCAGTGCTGGGCTCCCCACCCCGAGGTCAGGCTGCCCAATCCTCTGACTGGATCACCGGGGGCTTCTTGCCTCAGTTCTTCCCTCTGAGCCCCCAGGCCCTCCCGCATCTCAGGTTGGGGATGGGGACATGGAGAGGAAGGGGCCGCCTACTCCTGCAAATGCTTGTGACAGATGCCAGGAGGTAGATGTGTGCTGGCCAATAAAGGCCCCTACCTGATTCCCCGCA)$ MAPPAARLALLSAAALTLAARPAPSPGLGPGPECFTANGADYRGTQNWTALQGGKPCLFWNETFQHPYNTLKYPNGEGGLGEHNYCRNPDGDVSPWCYVAEHEDGVYWKYCEIPACQMPGNLGCYKDHGNPPPLTGTSKTSNKLTIQTCISFCRSQRFKFAGMESGYACFCGNNPDYWKYGEAASTECNSVCFGDHTQPCGGDGRIILFDTLVGACGGNYSAMSSVVYSPDFPDTYATGRVCYWTIRVPGASHIHFSFPLFDIRDSADMVELLDGYTHRVLARFHGRSRPPLSFNVSLDFVILYFFSDRINQAQGFAVLYQAVKEELPQERPAVNQTVAEVITEQANLSVSAARSSKVLYVITTSPSHPPQTVPGWTVYGLATLLILTVTAIVAKILLHVTFKSHRVPASGDLRDCHQPGTSGEIWSIFYKPSTSISIFKKKLKGQSQQDDRNPL|GEGLHQLREALKILAERVLILETMIGLYEPELGSGAGPAGTGTPSLLRGKRGGHATNYRIVAPRSRDERG* 11BR017 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 10 0 11 47 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) GCAGCaGCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTG(ATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR017 ENSG00000110075.14 ENSG00000162341.18 +/+ +/+ chr11:68460827 chr11:69062884 5'UTR/splice-site CDS/splice-site deletion 3 6 0 31 30 high . . |Ion_transport_protein(100%) . . ENSG00000110075.14 ENSG00000162341.18 ENST00000393800.6 ENST00000637504.1 downstream upstream . ^(GCTTGATACGT)CCGCCATTTTGGGCGCTTCGCTGATGGTGTCGGTGAGCGCGTTTCCCGCCTGAGCGCAACTAGCGGCGGGTCGTGGGCACCTCCAG|CCCCTGCGGATCCGCCGGCTTCTCCGTCCCTTCTTCCTGCTGCAGAACTCCTCTATGATGAAGAAGACCTTGAAATGCATCCGCTGGTCGCTGCCGGAAATGGCCAG___CAGGATGATGGGCAGGACAGGGAGAGG(CTGACCTACTTCCAGAACCTGCCTGAGTCTCTGACTTCCCTCCTGGTGCTGCTGACCACGGCCAACAACCCCGATG___TGATGATTCCTGCGTATTCCAAGAACCGGGCCTATGCCATCTTCTTCATAGTCTTCACTGTGATAG___GAAGCCTGTTTCTGATGAACCTGCTGACAGCCATCATCTACAGTCAGTTCCGGGGCTACCTGATG___AAATCTCTCCAGACCTCGCTGTTTCGGAGGCGGCTGGGAACCCGGGCTGCCTTTGAAGTCCTATCCTCCATGGTGGGGGAGGGAGGAGCCTTCCCTCAGGC___AGTTGGGGTGAAGCCCCAGAACTTGCTGCAGGTGCTTCAGAAGGTCCAGCTGGACAGCTCCCACAAACAGGCCATGATGGAG___AAGGTGCGTTCCTATGGCAGTGTTCTGCTCTCAGCTGAGGAGTTTCAGAAGCTCTTCAACGAGCTTGACAGAAGTGTGGTTAAAGAG___CACCCGCCGAGGCCCGAGTACCAGTCTCCGTTTCTGCAGAGCGCCCAGTTCCTCTTCGGCCACTACTACTTTGACTACCTGGGGAACCTCATCGCCCTGGCAAACCTGGTGTCCATTTGC___GTGTTCCTGGTGCTGGATGCAGATGTGCTGCCTGCTGAGCGTGATGACTTCATCCTGGGG___ATTCTCAACTGCGTCTTCATTGTGTACTACCTGTTGGAGATGCTGCTCAAGGTCTTTGCCCTGGGCCTGCGAGGGTACCTGTCCTACCCCAGCAACGTGTTTGACGGGCTCCTCACCGTTGTCCTGCTG___GAGGCCGGAGATGGTGGGCCTGCTGTCGCTGTGGGACATGACCCGCATGCTGAACATGCTCATCGTGTTCCGCTTCCTGCGTATCATCCCCAGCATGAAG___CTGATGGCCGTGGTGGCCAGTACCGTCCTGGGCCTGGTGCAGAACATGCGTGCGTTTGGCGGGATCCTGGTG___GTGGTCTACTACGTATTTGCCATCATTGGGATCAACTTGTTTAGAGGCGTCATTGTGGCTCTTCCTGGAAACAGCAG___TGACCCAGGAGGCTCTCACGTGGAGTCCCCAGAACAGCATCAACTCCTCACGATGCTCCTGACGGTGGTGGACAGACTCTCCATGCCCCGATGAAGTTGTGAGTCACATACATCCCCGTCCACAGCACCCGGTACTCAGTAGGTGGTCCCATAAATGTTTGTGGCACAAGTGAATGAACTTGGAACCATCCATCTAGTGGAAATTGTAAATTATAACAAAACCCAATGGACCGTGAAAGCCAGGGTCAAGGCTGGGGCCTGCTGAGGCCCTGTCATCGAGGGAGTTTTTGTGCTGGTAAAGATGATGACTGCCCTGGTGCAGGGCCCGTGTAGCCCAACATGTCTAGTCCGTGGCGGGCTCTTACTGGGGATGAGGGGCCTCCAGGAGGAGCAGGCCTGGGCACAGACTTCTGACCTGGGCACAGTTGGGAAGGGTGACAAGGGGTCAGAGCAGGCTCTTGGCCTCAGGTCAAAGGACAGGAGTCCTCCTGACTCTGCTGTGTCTGAAGCCCACAGTGAATGCAATGCAGAAAAAGCAGTGCTTGACCCTTTGTTTTCTCCGGGGTTAGGATCCCTGATATGATTGGGCTGTGTCCCCACCCAAATCTTGCCTTGAATTGTAATGATCCCCACATGTCAGGAGTGGGGCCAGGTGGAGATCATTGAATCACGGGGGTGGTTTCCCCTGTACTGTTCTTGTGGTAGTGAATAAGTCTCATGAGATCTGATGGTTTTATAAAGGGGAGTTCCCCGGCACATGCTCTCTCTTGCCTGCCCCCATGGAAGATGTGTCTTGCTTCTCCTTTGCCTTCTGCCATGATTGTGAGGCCTCCCTGGCCATGTGCAACTGTGAGTCAATTAAACTTCTTTCCTTTAAAAATT)$ . 11BR017 ENSG00000110075.14 ENSG00000162341.18 +/+ +/+ chr11:68505249 chr11:69062884 5'UTR/splice-site CDS/splice-site deletion 3 0 0 13 30 medium . . |Ion_transport_protein(100%) . . ENSG00000110075.14 ENSG00000162341.18 ENST00000265636.9 ENST00000637504.1 downstream upstream . ^CGTGGGCACCTCCAG___ATAAGAAAACAAGCTCAGAGAGATGTGGTGACTTGCTCAAATAGTGACAGAACTTCCTCGGCCATATGGAGGGGTCATATAATACCCTTGTGTCTTCAGTTTGAG|CCCCTGCGGATCCGCCGGCTTCTCCGTCCCTTCTTCCTGCTGCAGA(ACTCCTCTATGATGAAGAAGACCTTGAAATGCATCCGCTGGTCGCTGCCGGAAATGGCCAG___CGTCGGGCTGCTGCTGGCCATCCACCTGTGCCTCTTCACCATGTTCGGAATGCTGCTGTTCGCTGGTGGGAAG___CAGGATGATGGGCAGGACAGGGAGAGGCTGACCTACTTCCAGAACCTGCCTGAGTCTCTGACTTCCCTCCTGGTGCTGCTGACCACGGCCAACAACCCCGATG___TGATGATTCCTGCGTATTCCAAGAACCGGGCCTATGCCATCTTCTTCATAGTCTTCACTGTGATAG___GAAGCCTGTTTCTGATGAACCTGCTGACAGCCATCATCTACAGTCAGTTCCGGGGCTACCTGATG___AAATCTCTCCAGACCTCGCTGTTTCGGAGGCGGCTGGGAACCCGGGCTGCCTTTGAAGTCCTATCCTCCATGGTGGGGGAGGGAGGAGCCTTCCCTCAGGC___AGTTGGGGTGAAGCCCCAGAACTTGCTGCAGGTGCTTCAGAAGGTCCAGCTGGACAGCTCCCACAAACAGGCCATGATGGAG___AAGGTGCGTTCCTATGGCAGTGTTCTGCTCTCAGCTGAGGAGTTTCAGAAGCTCTTCAACGAGCTTGACAGAAGTGTGGTTAAAGAG___CACCCGCCGAGGCCCGAGTACCAGTCTCCGTTTCTGCAGAGCGCCCAGTTCCTCTTCGGCCACTACTACTTTGACTACCTGGGGAACCTCATCGCCCTGGCAAACCTGGTGTCCATTTGC___GTGTTCCTGGTGCTGGATGCAGATGTGCTGCCTGCTGAGCGTGATGACTTCATCCTGGGG___ATTCTCAACTGCGTCTTCATTGTGTACTACCTGTTGGAGATGCTGCTCAAGGTCTTTGCCCTGGGCCTGCGAGGGTACCTGTCCTACCCCAGCAACGTGTTTGACGGGCTCCTCACCGTTGTCCTGCTG___GAGGCCGGAGATGGTGGGCCTGCTGTCGCTGTGGGACATGACCCGCATGCTGAACATGCTCATCGTGTTCCGCTTCCTGCGTATCATCCCCAGCATGAAG___CTGATGGCCGTGGTGGCCAGTACCGTCCTGGGCCTGGTGCAGAACATGCGTGCGTTTGGCGGGATCCTGGTG___GTGGTCTACTACGTATTTGCCATCATTGGGATCAACTTGTTTAGAGGCGTCATTGTGGCTCTTCCTGGAAACAGCAG___TGACCCAGGAGGCTCTCACGTGGAGTCCCCAGAACAGCATCAACTCCTCACGATGCTCCTGACGGTGGTGGACAGACTCTCCATGCCCCGATGAAGTTGTGAGTCACATACATCCCCGTCCACAGCACCCGGTACTCAGTAGGTGGTCCCATAAATGTTTGTGGCACAAGTGAATGAACTTGGAACCATCCATCTAGTGGAAATTGTAAATTATAACAAAACCCAATGGACCGTGAAAGCCAGGGTCAAGGCTGGGGCCTGCTGAGGCCCTGTCATCGAGGGAGTTTTTGTGCTGGTAAAGATGATGACTGCCCTGGTGCAGGGCCCGTGTAGCCCAACATGTCTAGTCCGTGGCGGGCTCTTACTGGGGATGAGGGGCCTCCAGGAGGAGCAGGCCTGGGCACAGACTTCTGACCTGGGCACAGTTGGGAAGGGTGACAAGGGGTCAGAGCAGGCTCTTGGCCTCAGGTCAAAGGACAGGAGTCCTCCTGACTCTGCTGTGTCTGAAGCCCACAGTGAATGCAATGCAGAAAAAGCAGTGCTTGACCCTTTGTTTTCTCCGGGGTTAGGATCCCTGATATGATTGGGCTGTGTCCCCACCCAAATCTTGCCTTGAATTGTAATGATCCCCACATGTCAGGAGTGGGGCCAGGTGGAGATCATTGAATCACGGGGGTGGTTTCCCCTGTACTGTTCTTGTGGTAGTGAATAAGTCTCATGAGATCTGATGGTTTTATAAAGGGGAGTTCCCCGGCACATGCTCTCTCTTGCCTGCCCCCATGGAAGATGTGTCTTGCTTCTCCTTTGCCTTCTGCCATGATTGTGAGGCCTCCCTGGCCATGTGCAACTGTGAGTCAATTAAACTTCTTTCCTTTAAAAATT)$ . 11BR017 ENSG00000149115.14 ENSG00000180714.3(9897),ENSG00000254749.1(17462) -/- ./- chr11:57312534 chr11:57928136 CDS/splice-site intergenic duplication 3 4 0 272 73 high out-of-frame . . . . ENSG00000149115.14 . ENST00000358252.8 . upstream downstream . ^(GCAGTGGCTTCGTCCCGCGGTGACGGCGGCGGCGGCGGCGGTAGCAGCGGCGGCGGCGGCGGGGACTGGCATCGGGGCCCCGAGCCGAGCGGAGCCGGACCCCGGGCGAGCGC___GTCTGCAGCCACCCCAGCTCATACCTCTCTGCCTCCCCGCTCTCAAGGAGGGTCTGCCGCATGTGATGAAAGTGTCTACTCTCAGGGAAAGCTCAGCCATGGCTTCCCCACTGCCCCGGGAGATGGAGGAGGAGCTGGTGCCTACTGGCTCTGAGCCAG___GTGACACTCGGGCCAAACCCCCTGTCAAGCCCAAACCCCGGGCCCTGCCTGCCAAGCCAGCCCTGCCTGCCAAACCCAGCCTGCTGGTGCCTGTTGGGCCTCGGCCTCCCCGGGGTCCCCTGGCTGAGTTGCCTTCTGCCAGGAAGATGAACATGCTGGCAGGACCCCAGCCCTATGGTGGCAGCAAGCGCCCCCTTCCCTTTGCACCAAGGCCTGCGGTTGAGGCCTCCACTGGAGGAGAAGCCACCCAAGAGACTGGGAAAGAGGAGGCTGGGAAAGAGGAGCCACCCCCTTTGACACCCCCAGCTCGATGTGCAGCCCCAGGGGGTGTACGGAAGGCCCCTGCCCCTTTCCGCCCAGCCTCAGAGCGCTTCGCGGCCACCACGGTGGAAGAGATCCTGGCCAAGATGGAGCAGCCTCGGAAGGAGGTCCTTGCCAGCCCCGACCGCCTGTGGGGTTCCCGCCTCACCTTTAACCACGATGGCAGCTCGCGATATGGCCCCAGGACCTATGGCACGACCACTGCTCCCAGGGATGAGGATGGCAGCACCCTCTTCAGGGGATGGTCCCAGGAGGGGCCAGTAAAGTCTCCAGCAGAGTGCCGGGAAGAGCACAGCAAGACCCCTGAGGAGAG___GAGCCTTCCTTCCGACCTGGCCTTCAACGGGGACCTGGCTAAGGCAGCCAGCTCGGAGCTACCTGCTGAT___ATTTCCAAGCCCTGGATTCCCTCAAGTCCAGCCCCCTCCTCAGAGAATGGAGGCCCTGCCAGCCCAGGCCTCCCCGCAGAAGCCTCAGGCTCAGGCCCTGGCTCTCCCCATCTTCACCCGCCTGATAAGAGTTCTCCCTGCCACTCACAGCTTCTGGAAGCCCAGACTCCTGAAGCTTCCCAGGCTTCTCCCTGCCCCGCTGTGACTCCATCAGCTCCAAGTGCAGCCCTGCCTGACGAGGGCTCCCGCCACACCCCCAGCCCGGGGCTCCCTGCCGAGGGGGCTCCAGAGGCCCCCAGACCCAGCAGCCCACCCCCTGAGGTCTTGGAGCCCCATAGCCTGGATCAGCCCCCTGCCACCTCACCCCGGCCCCTGATCGAGGTGGGTGAGTTGCTGGATCTCACTCGGACGTTTCCATCTGGCGGGGAGGAGGAGGCCAAGGGTGACGCACACCTCCGCCCCACCAGCCTGGTTCAGCGCCGATTCTCTGAAGGTGTGCTCCAGTCACCCAGTCAGGACCAGGAGAAGCTGGGGGGCTCGCTGGCTGCCCTGCCCCAAGGCCAGGGGAGCCAGTTGGCCCTGGATCGTCCCTTTGGGGCAGAGTCCAACTGGAGCTTATCACAGTCCTTCGAATGGACCTTCCCCACGAGGCCCTCGGGTCTGGGCGTGTGGCGGCTGGACTCCCCGCCTCCCTCCCCCATCACTGAAGCCAGTGAGGCCGCCGAGGCTGCTGAGGCTGGCAACTTGGCCGTTTCCAGCAGGGAAGAAGGAGTGTCTCAGCAGGGGCAAGGGGCTGGGTCAGCTCCAAGTGGGTCAGGAAGTTCCTGGGTGCAGGGGGATGATCCAAGCATGTCCCTCACCCAGAAGGGCGATGGGGAGAGTCAACCTCAATTCCCAGCTGTTCCCCTTGAGCCCCTGCCTACAACTGAGGGCACACCTGGATTACCTTTGCAGCAGGCAGAGGAGAGATACGAGTCGCAGGAGCCCTTGGCTGGACAGGAGTCCCCTCTCCCCCTGGCTACCAGGGAGGCAGCCTTGCCCATCCTGGAGCCAGTCCTGGGGCAGGAGCAGCCAGCAGCCCCTGACCAGCCCTGTGTTCTCTTTGCTGATGCCCCTGAGCCTGGACAGGCACTGCCTGTTGAGGAGGAGGCCGTGACCCTAGCCCGGGCTGAGACCACCCAAGCCAGGACAGAGGCTCAAGACTTGTGTAGGGCATCCCCCGAGCCTCCAGGCC)CTGAAAGCAGCTCCCGCTGGCTGGACGACCTCCTGGCTTCACCACCACCCAGTGGTGGCGGTGCAAGGCGGGGAGCTGGAGCTGAGCTGAAGGACACACAGTCCCCAAGTACCTGCTCTGAG|ATGATGAGGATCCCAACAAGCAAATTTGTGGGAGCATGAGAACACTGGAGAGAAGTTTCACTGGCATGGAATTTAAGAGGGTATGCCCTTTGACCTTTGCTCCCT...___CTTGGCCCCCAGGGCAATGGTGCCACAAGCCAGATCGCTAAGGCCTCTCAGGAAAAGGG MKVSTLRESSAMASPLPREMEEELVPTGSEPGDTRAKPPVKPKPRALPAKPALPAKPSLLVPVGPRPPRGPLAELPSARKMNMLAGPQPYGGSKRPLPFAPRPAVEASTGGEATQETGKEEAGKEEPPPLTPPARCAAPGGVRKAPAPFRPASERFAATTVEEILAKMEQPRKEVLASPDRLWGSRLTFNHDGSSRYGPRTYGTTTAPRDEDGSTLFRGWSQEGPVKSPAECREEHSKTPEERSLPSDLAFNGDLAKAASSELPADISKPWIPSSPAPSSENGGPASPGLPAEASGSGPGSPHLHPPDKSSPCHSQLLEAQTPEASQASPCPAVTPSAPSAALPDEGSRHTPSPGLPAEGAPEAPRPSSPPPEVLEPHSLDQPPATSPRPLIEVGELLDLTRTFPSGGEEEAKGDAHLRPTSLVQRRFSEGVLQSPSQDQEKLGGSLAALPQGQGSQLALDRPFGAESNWSLSQSFEWTFPTRPSGLGVWRLDSPPPSPITEASEAAEAAEAGNLAVSSREEGVSQQGQGAGSAPSGSGSSWVQGDDPSMSLTQKGDGESQPQFPAVPLEPLPTTEGTPGLPLQQAEERYESQEPLAGQESPLPLATREAALPILEPVLGQEQPAAPDQPCVLFADAPEPGQALPVEEEAVTLARAETTQARTEAQDLCRASPEPPGPESSSRWLDDLLASPPPSGGGARRGAGAELKDTQSPSTCSE|mmriptskfvga* 11BR017 ENSG00000130313.7 ENSG00000183463.6 +/+ -/+ chr19:17517850 chr13:27988438 CDS/splice-site intron translocation/5'-5' 2 3 1 233 10 high out-of-frame . Glucosamine-6-phosphate_isomerases/6-phosphogluconolactonase(100%)| . . ENSG00000130313.7 ENSG00000183463.6 ENST00000252603.7 . downstream upstream . ^(CTCCTCCCCGCCGCCGCCCTCGCCATGGCCGCGCCGGCCCCGGGCCTCATCTCGGTGTTCTCGAGTTCCCAGGAGCTGGGTGCGGCGCTAGCGCAGCTGGTGGCCCAGCGCGCAGCATGCTGCCTGGCAGGGGCCCGCGCCCGTTTCGCGCTCGGCCTGTCGGGCGGGAGCCTCGTCTCGATGCTAGCCCGCGAGCTACCCGCCGCCGTCGCCCCTGCCGGGCCAGCTAGCTTAGCGCGCTGGACGCTGGGCTTCTGCGACGAGCGCCTCGTGCCCTTCGATCACGCCGAGAGCACGTACGGCCTCTACCGG___ACGCATCTTCTCTCCAGACTGCCGATCCCAGAAAGCCAGGTGATCACCATTAACCCCGAGCTGCCTGTGGA)GGAGGCGGCTGAGGACTACGCCAAGAAGCTGAGACAG___GCATTCCAAGGGGACTCCATCCCGGTTTTCGACCTGCTGATCCTGGGGGTGGGCCCCGATGGTCACACCTGCTCACTCTTCCCAGACCACCCCCTCCTACAG___GAGCGGGAGAAGATTGTGGCTCCCATCAGTGACTCCCCGAAGCCACCGCCACAGCGTGTGACCCTCACACTACCTGTCCTGAATGCAGCACGAACTGTCATCTTTGTGGCAACTGGAGAAGGCAAGGCAGCTGTTCTGAAG|AGAATGTCTGATACGGAAGCCTTACCTGACgGTGCAAGGGCATCAATAAAGGCAAAAAAGTGCTTCTCTAAATCTTCCAAATCAGAGAATGGCCGCTGGGACCAAACAGCAGCTGCAATCAGAGGACATCTCTCAGTGGCATTCCCAAACACATCCACGAATTCTCCAAG MAAPAPGLISVFSSSQELGAALAQLVAQRAACCLAGARARFALGLSGGSLVSMLARELPAAVAPAGPASLARWTLGFCDERLVPFDHAESTYGLYRTHLLSRLPIPESQVITINPELPVEEAAEDYAKKLRQAFQGDSIPVFDLLILGVGPDGHTCSLFPDHPLLQEREKIVAPISDSPKPPPQRVTLTLPVLNAARTVIFVATGEGKAAVLK|rmsdtealpdgarasikakkcfskssksengrwdqtaaairghlsvafpntstnsp 11BR017 ENSG00000149115.14 ENSG00000180714.3 -/- -/- chr11:57312534 chr11:57917947 CDS/splice-site exon duplication 1 5 0 272 17 high out-of-frame . . . . ENSG00000149115.14 ENSG00000180714.3 ENST00000358252.8 ENST00000527448.1 upstream downstream . ^(GCAGTGGCTTCGTCCCGCGGTGACGGCGGCGGCGGCGGCGGTAGCAGCGGCGGCGGCGGCGGGGACTGGCATCGGGGCCCCGAGCCGAGCGGAGCCGGACCCCGGGCGAGCGC___GTCTGCAGCCACCCCAGCTCATACCTCTCTGCCTCCCCGCTCTCAAGGAGGGTCTGCCGCATGTGATGAAAGTGTCTACTCTCAGGGAAAGCTCAGCCATGGCTTCCCCACTGCCCCGGGAGATGGAGGAGGAGCTGGTGCCTACTGGCTCTGAGCCAG___GTGACACTCGGGCCAAACCCCCTGTCAAGCCCAAACCCCGGGCCCTGCCTGCCAAGCCAGCCCTGCCTGCCAAACCCAGCCTGCTGGTGCCTGTTGGGCCTCGGCCTCCCCGGGGTCCCCTGGCTGAGTTGCCTTCTGCCAGGAAGATGAACATGCTGGCAGGACCCCAGCCCTATGGTGGCAGCAAGCGCCCCCTTCCCTTTGCACCAAGGCCTGCGGTTGAGGCCTCCACTGGAGGAGAAGCCACCCAAGAGACTGGGAAAGAGGAGGCTGGGAAAGAGGAGCCACCCCCTTTGACACCCCCAGCTCGATGTGCAGCCCCAGGGGGTGTACGGAAGGCCCCTGCCCCTTTCCGCCCAGCCTCAGAGCGCTTCGCGGCCACCACGGTGGAAGAGATCCTGGCCAAGATGGAGCAGCCTCGGAAGGAGGTCCTTGCCAGCCCCGACCGCCTGTGGGGTTCCCGCCTCACCTTTAACCACGATGGCAGCTCGCGATATGGCCCCAGGACCTATGGCACGACCACTGCTCCCAGGGATGAGGATGGCAGCACCCTCTTCAGGGGATGGTCCCAGGAGGGGCCAGTAAAGTCTCCAGCAGAGTGCCGGGAAGAGCACAGCAAGACCCCTGAGGAGAG___GAGCCTTCCTTCCGACCTGGCCTTCAACGGGGACCTGGCTAAGGCAGCCAGCTCGGAGCTACCTGCTGAT___ATTTCCAAGCCCTGGATTCCCTCAAGTCCAGCCCCCTCCTCAGAGAATGGAGGCCCTGCCAGCCCAGGCCTCCCCGCAGAAGCCTCAGGCTCAGGCCCTGGCTCTCCCCATCTTCACCCGCCTGATAAGAGTTCTCCCTGCCACTCACAGCTTCTGGAAGCCCAGACTCCTGAAGCTTCCCAGGCTTCTCCCTGCCCCGCTGTGACTCCATCAGCTCCAAGTGCAGCCCTGCCTGACGAGGGCTCCCGCCACACCCCCAGCCCGGGGCTCCCTGCCGAGGGGGCTCCAGAGGCCCCCAGACCCAGCAGCCCACCCCCTGAGGTCTTGGAGCCCCATAGCCTGGATCAGCCCCCTGCCACCTCACCCCGGCCCCTGATCGAGGTGGGTGAGTTGCTGGATCTCACTCGGACGTTTCCATCTGGCGGGGAGGAGGAGGCCAAGGGTGACGCACACCTCCGCCCCACCAGCCTGGTTCAGCGCCGATTCTCTGAAGGTGTGCTCCAGTCACCCAGTCAGGACCAGGAGAAGCTGGGGGGCTCGCTGGCTGCCCTGCCCCAAGGCCAGGGGAGCCAGTTGGCCCTGGATCGTCCCTTTGGGGCAGAGTCCAACTGGAGCTTATCACAGTCCTTCGAATGGACCTTCCCCACGAGGCCCTCGGGTCTGGGCGTGTGGCGGCTGGACTCCCCGCCTCCCTCCCCCATCACTGAAGCCAGTGAGGCCGCCGAGGCTGCTGAGGCTGGCAACTTGGCCGTTTCCAGCAGGGAAGAAGGAGTGTCTCAGCAGGGGCAAGGGGCTGGGTCAGCTCCAAGTGGGTCAGGAAGTTCCTGGGTGCAGGGGGATGATCCAAGCATGTCCCTCACCCAGAAGGGCGATGGGGAGAGTCAACCTCAATTCCCAGCTGTTCCCCTTGAGCCCCTGCCTACAACTGAGGGCACACCTGGATTACCTTTGCAGCAGGCAGAGGAGAGATACGAGTCGCAGGAGCCCTTGGCTGGACAGGAGTCCCCTCTCCCCCTGGCTACCAGGGAGGCAGCCTTGCCCATCCTGGAGCCAGTCCTGGGGCAGGAGCAGCCAGCAGCCCCTGACCAGCCCTGTGTTCTCTTTGCTGATGCCCCTGAGCCTGGACAGGCACTGCCTGTTGAGGAGGAGGCCGTGACCCTAGCCCGGGCTGAGACCACCCAAGCCAGGACAGAGGCTCAAGACTTGTGTAGGGCATCCCCCGAGCCTCCAGGCCCTGAAAGCAGCTCCCGCTGGCTGGACGACCT)CCTGGCTTCACCACCACCCAGTGGTGGCGGTGCAAGGCGGGGAGCTGGAGCTGAGCTGAAGGACACACAGTCCCCAAGTACCTGCTCTGAG|GCTGTATGGTCCAGATGGCCCTCATGATCCTCCATGGTACTGCTGAGTGTCTGCTCCTGGCCATCATGGCCTATGACCGATTCACCGCCATCTGCCACCCTCTCCTCTATCACACTATTATATCCCAATGTCTGTGTGCCCTGCTGGTGGTGACCTGCTATACTGTTTCTGTTGCCAATTCAGCTTTGCTGACTGGGTGCATCTTTAAGCTGCCCTACTGTGGCCCCAATGTCATTAACCAC(TATTTCTGTGACATCCCCCCTGTGCTCCAACTTGCCGGTGCAGATACTACGAGGTTGAGACCATTATCTTCTCATTGTGTGCCTTGCTCATCCTCTTTACCATCACCATTATCCCAGTCTCCTATGCCTACATCCTCGTGACCATTTGCAGGATGCGCTCCCTGCAAGCCCAGAGCAAAGCTCTCTCCACCTGTGCCTCCCACCTCACCATCATCTGCCTCTTCTATAGCACCATCACCTTCATGTATGCTCAGCCAAGCTCTCACAATTCCATGGAACACAACAAGGTCATGTCTGTCTTCTACACTGTGGTCATCCGCAGGCTGAACCCTCTGATCTACAGCCTGAGGAATAAAGATGTAAAATATGCTTTGAAGAGGAGATGCCTGTGCAAGCTGTCTTCATAATC)$ MKVSTLRESSAMASPLPREMEEELVPTGSEPGDTRAKPPVKPKPRALPAKPALPAKPSLLVPVGPRPPRGPLAELPSARKMNMLAGPQPYGGSKRPLPFAPRPAVEASTGGEATQETGKEEAGKEEPPPLTPPARCAAPGGVRKAPAPFRPASERFAATTVEEILAKMEQPRKEVLASPDRLWGSRLTFNHDGSSRYGPRTYGTTTAPRDEDGSTLFRGWSQEGPVKSPAECREEHSKTPEERSLPSDLAFNGDLAKAASSELPADISKPWIPSSPAPSSENGGPASPGLPAEASGSGPGSPHLHPPDKSSPCHSQLLEAQTPEASQASPCPAVTPSAPSAALPDEGSRHTPSPGLPAEGAPEAPRPSSPPPEVLEPHSLDQPPATSPRPLIEVGELLDLTRTFPSGGEEEAKGDAHLRPTSLVQRRFSEGVLQSPSQDQEKLGGSLAALPQGQGSQLALDRPFGAESNWSLSQSFEWTFPTRPSGLGVWRLDSPPPSPITEASEAAEAAEAGNLAVSSREEGVSQQGQGAGSAPSGSGSSWVQGDDPSMSLTQKGDGESQPQFPAVPLEPLPTTEGTPGLPLQQAEERYESQEPLAGQESPLPLATREAALPILEPVLGQEQPAAPDQPCVLFADAPEPGQALPVEEEAVTLARAETTQARTEAQDLCRASPEPPGPESSSRWLDDLLASPPPSGGGARRGAGAELKDTQSPSTCSE|avwsrwps* 11BR017 ENSG00000243156.9 ENSG00000100422.14(8711),ENSG00000260708.1(14931) -/- ./- chr22:17810703 chr22:46746963 CDS/splice-site intergenic duplication 1 4 0 20 18 high out-of-frame . Calponin_homology_(CH)_domain(100%),FAD_binding_domain(100%),LIM_domain(100%)| . . ENSG00000243156.9 . ENST00000441493.7 . upstream downstream . ^(AGCAGCGCGCGCTCCTGCAGCCCCGGCGGAGTCCCGGCGGGGAGCGCCCGCGTAGGCAGGCACCCGGGGCAGCCCTCCGTCCTCGCCGCGCGGCCTGAGAACCCCTGGGCCCTGGGCGAGGGGGCTGGGCTGTGCAGCCCCCGAGGCTAACTGGGCGGGATCGCAGCTGCAGGGGTTGTGCGAGCAGCCACGGCGGCACCTGTGCCCTGCGGGCACCCACCCTGCCCCTGCCGAGGCAGGCGCCCACCGCCGGCGGTGATGCGGCTGTGAAGCCCTAGTCG___ATTAACGTGACAGTGTCAGGTGGACCCACAGCCATCCCACCTCCCCCTCTGGGGAGTGCTGAGAGTGAGGCAGCATGGAGGAGAGGAAGCATGAGACCATGAACCCAGCTCATGTCCTCTTTGACCGGTTTGTCCAGGCCACCACCTGCAAGGGAACCCTCAAGGCTTTCCAGGAGCTCTGTGACCACCTGGAACTAAAGCCAAAGGACTACCGCTCCTTCTATCACAAGCTCAAGTCCAAGCTTAACTACTGGAAAGCCAAAGCCCTCTGGGCAAAATTGGACAAACGGGGCAGTCACAAAGACTACAAAAAGGGAAAAGCGTGCACTAACACCAAG___TGTCTCATCATTGGGGCTGGCCCCTGTGGTCTCCGTACAGCCATCGACTTATCCTTACTGGGGGCCAAGGTGGTTGTTATTGAGAAACGAGATGCCTTCTCCCGCAACAACGTCTTGCATCTCTGGCCATTCACCATACATGATCTACGAGGTCTGGGTGCCAAGAAGTTCTATGGCAAGTTCTGTGCTGGAGCCATCGACCATATCA___GTATCCGTCAGCTCCAACTAATACTTTTGAAAGTAGCCTTGATCCTAGGCATTGAAATCCACGTCAATGTGGAATTCCAAGGACTTATACAGCCTCCTGAGGACCAAGAGAATGAAC___GGATAGGCTGGCGGGCACTGGTGCACCCCAAGACTCATCCTGTGTCAGAGTATGAATTTGAAGTGATCATCGGTGGGGATGGTCGGAGGAACACCTTGGAAG___GGTTTCGTCGGAAAGAATTCCGTGGCAAACTGGCCATCGCCATCACGGCAAATTTTATCAACCGAAATACAACAGCAGAAGCTAAAGTGGAAGAGATCAGTGGTGTGGCTTTTATATTCAACCAAAAATTTTTCCAGGAACTGAGGGAAGCCACAG___GTATTGACTTGGAGAACATCGTTTACTACAAAGATGACACACACTATTTCGTTATGACAGCCAAAAAGCAGAGTTTGCTGGACAAAGGAGTGATACTACAT___GACTACGCCGACACAGAGCTCCTGCTTTCCCGAGAAAACGTGGACCAGGAGGCTCTGCTCAGCTATGCCAGGGAGGCGGCAGACTTCTCTACCCAGCAGCAGCTGCCGTCTCTGGATTTTGCCATCAATCACTATGGGCAGCCCGATGTGGCCATGTTTGACTTCACTTGTATGTATGCCTCCGAGAACGCCGCCTTGGTGCGGGAGCAGAACGGACACCAGTTACTAGTGGCTCTGGTCGGGGACAGCCTCCTAGAG___CCTTTCTGGCCAATGGGAACAGGAATAGCCCGGGGCTTTCTAGCTGCTATGGACTCTGCCTGGATGGTCCGAAGTTGGTCTCTAGGAACGAGCCCTTTGGAAGTGCTGGCAGAGAG___GGAAAGTATTTACAGGTTGCTGCCTCAGACCACCCCTGAGAATGTGAGTAAGAACTTCAGCCAGTACAGTATCGACCCTGTCACTCGGTATCCCAATATCAACGTCAACTTCCTCCGGCCAAGCCAG___GTGCGCCATTTATATGATACTGGCGAAACAAAAGATATTCACCTGGAAATGGAGAGCCTGGTGAATTCCCGAACCACCCCCAAATTGACTCGCAATG___AGTCTGTAGCTCGTTCAAGCAAACTGCTGGGTTGGTGCCAGAGGCAGACAGATGGCTATGCAGGGGTAAACGTGACAGATCTCACCATGTCCTGGAAAAGTGGCTTGGCCCTTTGTGCAATTATCCATAGATACCGCCCTGACCTGAT___AGATTTTGATTCTTTGGATGAGCAAAATGTGGAGAAGAATAACCAACTGGCCTTTGACATTGCTGAGAAGGAATTGGGCATTTCTCCCATCATGACAGGCAAAGAAATGGCCTCCGTGGGGGAGCCTGATAAGCTGTCCATGGTGATGTACCTGACTCAGTTCTACGAGATGTTTAAGGACTCCCTCCCCTCTAGCG___ACACCTTGGACCTAAATGCCGAGGAGAAAGCAGTCCTGATAGCCAGCACCAGATCCCCTATCTCCTTCCTAAGCAAACTTGGCCAGACCATCTCTCGGAAGCGTTCTCCCAAG___GATAAAAAGGAAAAGGACTTGGATGGTGCTGGGAAGAGGAGAAAGACCAGTCAATCAGAGGAG___GAGGAAGCTCCTCGGGGCCACAGAGGAGAAAGACCGACCCTGGTGAGCACTCTGACAGACAGGAGGATGGACGTTGCCGTTGGGAACCAGAACAAAGTGAAGTACATGGCGACCCAGCTGCTGGCCAAATTTGAAGAGAATGCGCCCGCACAGTCCATCGGCATACGGAGACAG___GGCTCCATGAAGAAGGAGTTCCCGCAGAACCTGGGAGGCAGCGACACATGCTACTTCTGCCAGAAGCGGGTCTACGTGATGGAGAGGCTGAGTGCCGAGGGCAAGTTCTTCCACCGGAGCTGCTTCAAGTGCGAGTACTGCGCCACCACCCTGCGCCTCTCGGCCTACGCCTACGACATCGAGGATG___GTAAATTCTACTGTAAGCCACACTACTGCTATCGACTCTCTGGCTACGCACAAAGGAAGAGACCGGCAGTGGCTCCCCTGTCTGGAAAG___GAGGCCAAAGGACCCCTGCAGGATGGCGCCACCACAGATGCAAACGGACGGGCCAACGCCGTGGCCAGCTCCACTGAGAGAACCCCAG___GTTCAGGCGTGAACGGCCTGGAGGAGCCCAGCATCGCCAAGCGACTGAGGGGCACCCCAGAGCGGATCGAGCTGGAGAACTACCGCCTGTCCCTGAGGCAGGCTGAGGCACTGCAGGAGGTACCGGAGGAGACTCAGGCCGAGCACAACCTGAGCAGCGTGCTGGACACGGGCGCCGAGGAGGACGTCGCCAGCAG___TAGTTCCGAGTCTGAGATGGAGGAGGAGGGAGAGGAGGAGGAGGAGGAGCCTCGCCTGCCCCCATCTGACCTGGGTGGTGTTCCGTGGAAGGAGGCCGTGCGGATCCATGCCCTTCTGAAAGGGAAAAGTGAAGAGGAGCTAGAGGCCTCAAAGAGCTTTGGGCCTGGGAATGAAGAGGAGGAGGAGGAGGAGGAAGAATATGAAGAGGAGGAGGAGGAGGACTATGACGAGGAGGAGGAAGAGTCCAGTGAAG___CCGGGAACCAGAGGCTCCAGCAGGTCATGCACGCGGCGGATCCTCTGGAGATCCAGGCTGACGTGCACTGGACTCATATCCGTGAGAGAGAGGAGGAAGAGAGGATGGCGCCGGCCTCTGAGTCCTCTGCTTCCGGAG___CCCCATTGGATGAGAATGACCTAGAGGAAGATGTGGACTCAGAACCAGCCGAGATAGAAGGGGAGGCAGCAGAGGATGGGGACCCAGGGGACACTGGTGCTGAGCTGGATGATG___ATCAGCACTGGTCTGACAGCCCGTCGGATGCTGACAGAGAGCTGCGTTTGCCGTGCCCAGCTGAGGGGGAAGCAGAGCTGGAGCTGAGGGTGTCGGAAGATGAGGAGAAGCTGCCCGCCTCACCGAAGCACCAAGAGAGAG___GTCCCTCCCAAGCCACCAGCCCCATCCGGTCTCCCCAGGAATCAGCTCTTCTGTTCATTCCAGTCCACAGCCCCTCAACAGAG___GGGCCCCAACTCCCACCTGTCCCTGCCGCCACCCAGGAGAAATCACCTGAGGAGCGCCTTTTCCCTGAGCCTTTGCTCCCCAAAGAGAAGCCCAAAGCTGATGCCCCCTCGGATCTGAAAGCTGTGCACTCTCCCATCCGATCACAGCCAGTGACCCTGCCAGAAGCTAGGACTCCTGTCTCACCAGGGAGCCCGCAGCCCCAGCCACCCGTGGCGGCCTCCACGCCCCCACCCAGCCCACTCCCCATCTGCTCCCAGCCCCAGCCTTCCACCGAGGCCACTGTCCCATCCCCTACCCAGTCCCCCATACGCTTCCAGCCTGCCCCGGCCAAAACATCCACCCCACTGGCCCCTCTCCCTGTCCAAAGCCAAAGTGACACCAAGGACAGACTGGGCAGCCCCCTTGCTGTGGATGAGGCCCTCAGACGGAGCGACCTGGTGGAGGAGTTCTGGATGAAGAGTGCGGAGATCCGCCGCAGCCTCGGGCTCACACCTGTGGACCGCAGCAAGGGGCCCGAGCCCAGCTTCCCCACGCCTGCCTTCAGGCCAGTGTCCCTCAAATCCTATTCCGTTGAAAAGTCCCCCCAGGATGAGGGACTCCACCTTCTCAAGCCTCTGTCCATCCCCAAAAGGCTGGGCCTGCCAAAGCCGGAAGGCGAGCCGTTGTCCCTGCCAACCCCCCGGTCCCCGTCCGACAGAGAGCTACGCAGCGCCCAGGAGGAGCGCAGGGAGCTGTCCAGCAGCTCTGGCCTGGGCCTGCACGGGAGCTCCTCCAACATGAAGACACTGGGCAGCCAGAGCTTCAACACCTCGGACTCCGCCATGCTCACGCCCCCCTCCAGCCCGCCCCCACCGCCACCCCCGGGCGAGGAGCCCGCCACCTTGCGGAGGAAGCTCAGGGAGGCCGAGCCCAATGCCTCGGTGGTCCCGCCGCCCTTGCCCGCCACCTGGATGCGGCCCCCCCGGGAGCCTGCTCAGCCCCCCAGAGAGGAGGTGCGGAAGTCGTTTGTGGAGAGCGTGGAGGAGATTCCCTTTGCTGATGATGTGGAGGACACCTATGACGACAAGACTGAGGACTCAAGCCTGCAGGAGAAATTCTTCACGCCCCCGTCCTGCTGGCCGCGCCCCGAGAAGCCTCGCCACCCGCCCCTGGCCAAGGAGAACGGGAGGCTGCCTGCTCTGGAGGGGACGCTGCAGCCACAGAAGAGGGGGCTGCCCTTGGTGTCCGCGGAAGCCAAGGAGTTGGCCGAGGAGCGCATGCGAGCCAGGGAGAAGTCCGTGAAGAGCCAGGCGCTGCGGGACGCCATGGCCAGGCAGCTGAGCAGGATGCAGCAGATGGAGCTGGCCTCAGGCGCCCCCAGGCCCCGCAAGGCGTCCTCAGCACCCTCCCAGGGCAAGGAGCGCCGGCCTGACTCCCCCACACGCCCCACTCTCAGGGGCTCCGAGGAGCCCACCCTGAAGCATGAAGCCACCAGCGAGGAGGTCCTCTCCCCGCCGTCGGACTCAGGGGGCCCAGATGGCTCTTTCACTTCATCCGAGGGCTCCAGTGGGAAGAGCAAGAAGAGGTCGTCACTCTTCTCCCCCCGCAGAAACAAGAAGGAGAAGAAGTCCAAAGGCGAGGGCCGGCCCCCGGAGAAGCCCAGCTCCAACCTCCTAGAAGAAGCCGCCGCCAAACCCAAGTCCCTGTGGAAGTCCGTCTTCTCCGGGTACAAGAAGGACAAGAAGAAGAAGGCCGACGACAAGTCCTGCCCCAGCACCCCCTCCAGCGGGGCCACGGTGGACTCTGGAAAGCACAGGGTGCTTCCCGTCGTAAGGGCAG___AGCTGCAGCTCCGGCGCCAGCTGAGCTTCTCCGAGGACTCAGACCTCTCCAGCGACGATGTCCTTGAGAAGTCCTCACAGAAGTCCCGGCGAGAG___C)CAAGAACCTACACGGAGGAGGAACTGAATGCCAAGCTGACCCGGCGTGTGCAAAAGGCAGCTCGGAGACAGGCCAAGCAGGAGGAGCTTAAGCGGCTGCATCGAGCCCAG|TGCCGTCCTAGGAAACCCTGGCCCAAGATCTCACCGCCTTTCCTCGCAGAGTTTGGACTTGAATCTTGAGCTCTCAGCCACTCTGTTCTGCGATCACTATCCTCGTTTCACGTGTGAGAGAAAACGGAGGCTCCAACAGGTGAGGCGAAGGCTCCCAGCGAGCGCAGGTGGAGCTGGGGCTCCACAGGACCACACCTCCCTCTCT MEERKHETMNPAHVLFDRFVQATTCKGTLKAFQELCDHLELKPKDYRSFYHKLKSKLNYWKAKALWAKLDKRGSHKDYKKGKACTNTKCLIIGAGPCGLRTAIDLSLLGAKVVVIEKRDAFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGAIDHISIRQLQLILLKVALILGIEIHVNVEFQGLIQPPEDQENERIGWRALVHPKTHPVSEYEFEVIIGGDGRRNTLEGFRRKEFRGKLAIAITANFINRNTTAEAKVEEISGVAFIFNQKFFQELREATGIDLENIVYYKDDTHYFVMTAKKQSLLDKGVILHDYADTELLLSRENVDQEALLSYAREAADFSTQQQLPSLDFAINHYGQPDVAMFDFTCMYASENAALVREQNGHQLLVALVGDSLLEPFWPMGTGIARGFLAAMDSAWMVRSWSLGTSPLEVLAERESIYRLLPQTTPENVSKNFSQYSIDPVTRYPNINVNFLRPSQVRHLYDTGETKDIHLEMESLVNSRTTPKLTRNESVARSSKLLGWCQRQTDGYAGVNVTDLTMSWKSGLALCAIIHRYRPDLIDFDSLDEQNVEKNNQLAFDIAEKELGISPIMTGKEMASVGEPDKLSMVMYLTQFYEMFKDSLPSSDTLDLNAEEKAVLIASTRSPISFLSKLGQTISRKRSPKDKKEKDLDGAGKRRKTSQSEEEEAPRGHRGERPTLVSTLTDRRMDVAVGNQNKVKYMATQLLAKFEENAPAQSIGIRRQGSMKKEFPQNLGGSDTCYFCQKRVYVMERLSAEGKFFHRSCFKCEYCATTLRLSAYAYDIEDGKFYCKPHYCYRLSGYAQRKRPAVAPLSGKEAKGPLQDGATTDANGRANAVASSTERTPGSGVNGLEEPSIAKRLRGTPERIELENYRLSLRQAEALQEVPEETQAEHNLSSVLDTGAEEDVASSSSESEMEEEGEEEEEEPRLPPSDLGGVPWKEAVRIHALLKGKSEEELEASKSFGPGNEEEEEEEEEYEEEEEEDYDEEEEESSEAGNQRLQQVMHAADPLEIQADVHWTHIREREEEERMAPASESSASGAPLDENDLEEDVDSEPAEIEGEAAEDGDPGDTGAELDDDQHWSDSPSDADRELRLPCPAEGEAELELRVSEDEEKLPASPKHQERGPSQATSPIRSPQESALLFIPVHSPSTEGPQLPPVPAATQEKSPEERLFPEPLLPKEKPKADAPSDLKAVHSPIRSQPVTLPEARTPVSPGSPQPQPPVAASTPPPSPLPICSQPQPSTEATVPSPTQSPIRFQPAPAKTSTPLAPLPVQSQSDTKDRLGSPLAVDEALRRSDLVEEFWMKSAEIRRSLGLTPVDRSKGPEPSFPTPAFRPVSLKSYSVEKSPQDEGLHLLKPLSIPKRLGLPKPEGEPLSLPTPRSPSDRELRSAQEERRELSSSSGLGLHGSSSNMKTLGSQSFNTSDSAMLTPPSSPPPPPPPGEEPATLRRKLREAEPNASVVPPPLPATWMRPPREPAQPPREEVRKSFVESVEEIPFADDVEDTYDDKTEDSSLQEKFFTPPSCWPRPEKPRHPPLAKENGRLPALEGTLQPQKRGLPLVSAEAKELAEERMRAREKSVKSQALRDAMARQLSRMQQMELASGAPRPRKASSAPSQGKERRPDSPTRPTLRGSEEPTLKHEATSEEVLSPPSDSGGPDGSFTSSEGSSGKSKKRSSLFSPRRNKKEKKSKGEGRPPEKPSSNLLEEAAAKPKSLWKSVFSGYKKDKKKKADDKSCPSTPSSGATVDSGKHRVLPVVRAELQLRRQLSFSEDSDLSSDDVLEKSSQKSRREPRTYTEEELNAKLTRRVQKAARRQAKQEELKRLHRAQ|crprkpwpkisppflaefgles* 11BR017 ENSG00000093100.13 ENSG00000100422.14(8711),ENSG00000260708.1(14931) -/- ./- chr22:17810703 chr22:46746963 exon/splice-site intergenic duplication 1 4 0 20 18 high . . . . . ENSG00000093100.13 . ENST00000476405.1 . upstream downstream . ^(CTTCCTAGCGGCCAGCGGCTGCCTCTGCAGACCCCAGAGTCAGTCCAGGTTCACCTCCACAATTCCTTCTTCAGACTGTACTTGACTTAAAAGAGAAACATCCTTGTTCTCTCTACTTGGGTGTCATTTCTTGGAAGACTCTCATGGATACTGCTCTTCTGAAGAAAGTGACCTTTGATACCAAACAGGAAAATAAAAGGATCCCGATTTCTCTTTGCTTCCCCTGTAAGCCTCCTAGAAGCAGGAGGCTTGGTGAAACAGCCTACCAATGTTTTTACTCCCACAAAGTTTTAAAATGACCAGACATCCTTATTTGGGAAGCAGGTGATCTCAGTGATAAAGGAGCGTGTGTCCCTTTATTGTTTTAACTGCCTAACAGTCGGTCCCCACTCAGCCTCCTGTCCCTGTGCAGAGGTGGGGAAATGTCTCACTCTGTGGATCTTAGGTGTGCCCGTGGCACTGAGGGCTGCTGCAGGCTGGGGACTCTGCAGACCTCATGCCTTCTGCCTATCAGCACCCCCGTCCTGCTAGCACTCTACTCTACAGAGGACAGCTTGTCCTATCTGCCCGGGTACCAGCTCCGACATGGGGGACAGACCTCTCCAGGCCCCTGTTGGCCTGCTGCCCACCCCTGTCCCAGGCCTCCGTGCACCTGACTGAGGAAGTTTCTCTTGTTCTCTCCAGC)CAAGAACCTACACGGAGGAGGAACTGAATGCCAAGCTGACCCGGCGTGTGCAAAAGGCAGCTCGGAGACAGGCCAAGCAGGAGGAGCTTAAGCGGCTGCATCGAGCCCAG|TGCCGTCCTAGGAAACCCTGGCCCAAGATCTCACCGCCTTTCCTCGCAGAGTTTGGACTTGAATCTTGAGCTCTCAGCCACTCTGTTCTGCGATCACTATCCTCGTTTCACGTGTGAGAGAAAACGGAGGCTCCAACAGGTGAGGCGAAGGCTCCCAGCGAGCGCAGGTGGAGCTGGGGCTCCACAGGACCACACCTCCCTCTCT . 11BR017 ENSG00000133704.10 ENSG00000177586.6(14673),ENSG00000205846.4(2864) -/- ./- chr12:30670962 chr12:8453098 CDS/splice-site intergenic deletion 2 2 0 30 7 high out-of-frame . Cse1(100%),Importin-beta_N-terminal_domain(100%)| . . ENSG00000133704.10 . ENST00000256079.9 . upstream downstream . ^(GTAAAACGGTGAATGGAGAGCGAGTTGTGGGGGGGAAAAAGGGAGGACAGGGGGCGCGGAGTCAGAGTGGCGCAGCAAGTGGCCGCAGGTGGCGACGGTGGCGGGGGGTGGGGTGTGAGGTAATCCAGGGGTCGCGGAAGAGGAGGCTGAGAGGGTCAAAAGAAAACTAAAGCTGCAGTCCGGCCTACTGTTCCGGGGGCCGCGGAGCCCCCACCCGGGGAGATGGACCTCAACCGGATCATCCAGGCGCTGAAGGGCACCATCGACCCGAAGTTGCGGATTGCAGCCGAGAACGAGCTCAACCAG___TCCTACAAGATTATCAATTTTGCCCCCAGTTTACTTCGGATTATAGTCTCTGACCATGTGGAATTCCCAGTACGACAGGCAG___CTGCCATTTACCTGAAGAACATGGTGACACAATACTGGCCAGATCGAGAACCTCCACCAGGAGAAGCAATATTTCCATTCAACATTCACGAAAACGATCGCCAGCAAATACGTGATAACATTGTGGAAGGAATAATTCGGTCTCCAGATTTAGTGAG___AGTCCAATTAACAATGTGTCTCCGTGCCATCATAAAACATGATTTTCCTGGTCACTGGCCAGGAGTGGTCGACAAGATAGACTATTACTTGCAATCACAGAGCAGTGCAAGCTGGCTTGGCAGTTTATTATGCCTGTATCAACTGGTGAAGACATATGA___ATATAAGAAAGCAGAAGAGAGAGAACCTCTTATAATAGCAATGCAGATATTCCTGCCTCGTATTCAGCAACAAATTGTTCAGCTCCTTCCTGATTCCTCCTATTATTCTGTATTACTGCAGAAACAAATTCTGAAAATCTTTTATGCACTTGTTCAG___TATGCATTGCCTCTTCAGCTAGTGAATAACCAAACCATGACAACATGGATGGAGATCTTCCGAACTATTATCGACAGGACCGTTCCTCCT___GAGACTCTGCACATTGATGAGGATGATAGACCAGAACTGGTATGGTGGAAGTGTAAGAAGTGGGCACTGCATATTGTAGCTCGGCTCTTTGAACG___ATATGGAAGCCCAGGAAATGTCACAAAAGAATACTTTGAATTTTCTGAATTCTTTTTGAAAACCTATGCAGTGGGCATTCAGCAG___GTGCTACTAAAAATTTTA)GATCAATATAGACAGAAAGAATATGTAGCTCCCCGTGTTCTcCAGCAAGCATTCAACTATCTCAACCAAGGGGTGGTTCATTCTATAACCTGGAAGCAGATGAAGCCACACATACAG|TTCCCGTCAGAGACAAAGAAACACAAACCCAAGGATTGAATCACTTGGTGGTCCAGTAAAAGAATGCATTCTCCTCAGCTATCTGGAG___AAGTTCAAGATTGTCTTTGATAAAAGAATATTTACCAGGTGTCTGAAAATACCAAGCTGGAGAATTAGTCTATGGTGATTAAAAACTCTCAAAGCATGTCTTACCAACTGGAGAATTTTTCCTATGTCA MDLNRIIQALKGTIDPKLRIAAENELNQSYKIINFAPSLLRIIVSDHVEFPVRQAAAIYLKNMVTQYWPDREPPPGEAIFPFNIHENDRQQIRDNIVEGIIRSPDLVRVQLTMCLRAIIKHDFPGHWPGVVDKIDYYLQSQSSASWLGSLLCLYQLVKTYEYKKAEEREPLIIAMQIFLPRIQQQIVQLLPDSSYYSVLLQKQILKIFYALVQYALPLQLVNNQTMTTWMEIFRTIIDRTVPPETLHIDEDDRPELVWWKCKKWALHIVARLFERYGSPGNVTKEYFEFSEFFLKTYAVGIQQVLLKILDQYRQKEYVAPRVLQQAFNYLNQGVVHSITWKQMKPHIQ|fpsetkkhkpkd* 11BR017 ENSG00000245164.8(16226),ENSG00000244791.3(16440) ENSG00000164796.18 ./- -/- chr8:126309014 chr8:113098963 intergenic CDS/splice-site deletion 2 1 0 13 3 high . . |CUB_domain(100%),Sushi_repeat_(SCR_repeat)(100%) . . . ENSG00000164796.18 . ENST00000297405.10 upstream downstream duplicates(1) CCAAGAGAAAAATCTGACTGGCACACAGAATCAAAGGACT___GATCTGCTTCTGGGGAAAGCAAAGACTGGAGATGGAAATTGCTGCTATTGAAGATGTGGATGTGTGATTGTGGACTAGGAAATGCCTAAGGACCAG___GTGTTAATTCCAAGAGCACGTCCCAATAAATGCCCACATGCCAATCTCTGATTCCATCTGCTTTCCACAGAATCCAACCTGCACCTGCAGACAGAGAGGATTTGGACAGG|CTGAAGATGCTTGTGGAGGAACAATGAGAGGATCCAGTGGCATCATATCCAGCCCTAGTTTTCCTAATGAGTACCATAACAATGCTGATTGCACTTGGACCATTGTAGCAGAGCCTGGGGACACAATTTCA(CTCATATTTACTGATTTTCAAATGGAAGAGAAATATGATTACTTAGAAATAGAAGGTTCTGAGCCACCTACCATATG___GTTATCTGGAATGAATATACCACCACCAATTATCAGCAACAAAAACTGGCTCAGACTGCATTTTGTTACAGACAGCAATCATCGATACCGTGGATTTAGTGCTCCCTATCAAG___GTTCTTCTACATTGACCCACACTACCTCCACTGGTGAGTTAGAGGAGCATAACAGGACTACCACTGGTGCTATTGCTGTTGCTAGCACACCTGCAGATGTTACTGTATCCAGTGTTACAGCTGTCACCATCCATAGACTTTCCGAGGAACAGCGAGTGCAAGTTACGAGTCTCAGAAATTCAGGTCTGGACCCCAACACGTCCAAGGACGGGCTCTCTCCTCATCCAGCAGATACACAAAGTACCAGGAGAAGACCAAGACATGCTGAACAGATAGAAAGAACTAAAGAGCTTGCAGTTGTTACTCATAGAG___TGAAAAAGGCCATAGATTTTAAATCTAGAGGATTTAAATTGTTTCCAGGGAAAGACAACAGCAACAAGTTTTCTATCT___TAAATGAGGGAGGTATTAAAACAGCTTCCAATTTATGCCCAGATCCAGGAGAACCAGAAAATGGGAAGAGAATCGGATCAGATTTTAG___CCTTGGATCAACTGTGCAGTTCTCTTGTGATGAAGATTATGTCCTACAGGGCGCAAAGAGCATCACCTGTCAACGGATAGCTGAAGTTTTTGCTGCTTGGAGTGATCACAGGCCTGTGTGTAAAG___TGAAAACGTGTGGCTCTAATCTTCAAGGACCAAGTGGTACCTTTACATCTCCCAACTTTCCGTTCCAGTATGACAGCAATGCACAATGTGTCTGGGTCATCACAGCAGTGAATACAAATAAG___GTTATCCAGATAAATTTTGAAGAATTTGATCTGGAGATTGGCTATGATACCTTGACAATTGGCGATGGGGGCGAAGTTGGAGATCCTAGGACAGTGCTCCAAGT___GCTGACTGGAAGCTTTGTACCAGACTTGATAGTGAGCATGAGTAGCCAAATGTGGCTGCACCTTCAAACGGACGAAAGTGTTGGATCTGTTGGTTTCAAGGTTAACTACAAAG___AAATTGAGAAAGAAAGTTGTGGTGATCCTGGTACACCCTTATATGGAATTAGAGAAGGCGATGGATTTTCTAATCGTGATGTTTTAAGGTTTGAATGCCAGTTTGGGTTTGAATTAATTGGAGAGAAATCCATTGTTTGTCAAGAGAATAACCAATGGTCTGCAAACATACCCATCTGTATCT___TTCCCTGCCTGTCTAACTTTACTGCACCAATGGGAACAGTTCTTTCTCCTGATTACCCAGAAGGGTATGGAAATAATTTAAATTGCATCTGGACGATAATCTCTGATCCAGGGAGCCGGATACATCTTTCTTTCAATGACTTTGACCTGGAATCCCAGTTTGATTTCCTTGCTGTTAAAGATGGTGACTCTCCAGAATCCCCAATTCTTGGAACCTTTACTGGGGCTGAGGTGCCTTCCCATCTTACTAGTAATAGTCACATACTGCGATTGGAATTTCAGGCTGACCACTCAATGTCAGGACGTGGCTTTAACATCACTTACAACA___CATTTGGACATAATGAATGCCCTGATCCTGGAATACCAATCAATGCACGGCGGTTTGGGGACAACTTTCAATTAGGAAGTTCAATTTCAGTTATTTGTGAAGAAGGATTTATTAAAACCCAGGGAACAGAAACAATTACATGTATTCTTATGGATGGAAAAGTAATGTGGAGTGGACTGATTCCAAAATGTGGAG___CCCCATGTGGTGGCCATTTTTCAGCTCCCAGTGGAGTGATTCTCTCACCAGGATGGCCAGGATACTACAAAGACTCTTTGAATTGTGAGTGGGTGATTGAAGCTGAACCTGGACACTCTATCAAAATTACATTTGAAAG___ATTTCAGACTGAACTGAATTATGATGTTCTGGAAGTTCATGATGGGCCAAATCTTCTGTCACCCTTGCTTGGATCTTACAATGGCACCCAAGTGCCCCAGTTTCTATTTAGTAGCAGTAATTTTATATACCTTCTATTTACAACAGACAACAGTCGTTCCAATAATGGTTTCAAGATTCATTATGAAA___GTGTTACAGTGAACACGTATTCTTGTTTGGACCCTGGCATACCTGTACATGGCCGTCGCTATGGTCATGATTTCTCCATTGGCTCTACTGTTTCATTTAGTTGTGATTCAGGATACAGGTTGAGTCATGAAGAGCCCCTTCTATGCGAAAAAAACCACTGGTGGAGTCATCCACTTCCAACCTGTGATG___CATTATGTGGAGGAGATGTTAGAGGGCCTAGTGGAACAATCTTATCACCTGGTTACCCGGAATTTTATCCAAATTCTCTGAATTGTACATGGACTGTTGATGTAACCCATGGAAAAG___GTGTGCAGTTCAACTTCCACACTTTTCATTTGGAAGACCATCATGACTACTTACTGATCACAGAGAATGGCAGTTTTACCCAACCACTGGCACGCCTGACTGGTTCAGATCTTCCTCCAACAATCAATGCTGGTCTCTATGGAAATTTCAGGGCTCAATTGCGTTTCATTTCAGATTTTTCAATATCATATGAAGGATTTAACATAACATTCTCTG___AATATAACCTTGAACCTTGTGAAGATCCTGGCATTCCTCAATATGGTAGTCGAATCGGGTTCAACTTTGGGATTGGTGACACTCTGACCTTCTCATGCTCTTCGGGTTATCGACTGGAAGGAACATCAGAGATCATCTGTCTTGGTGGTGGCCGACGAGTGTGGAGTGCACCTCTGCCAAGGTGTGTGG___CTGAATGTGGTGCATCTGCAACGAATAATGAAGGAATTTTGCTGTCTCCAAATTATCCACTCAACTATGAAAACAACCATGAATGCATTTATAGTATTCAGGTTCAAGCAGGAAAGGGAATCAATATTTCAGCCAGAACATTTCATTTAGCACAAGGAGATGTTCTTAAG___ATTTATGATGGAAAAGATAAAACGACTCATCTACTAGGTGCTTTTACTGGTGCATCTATGCGCGGACTGACACTTAGTAGTACTTCAAATCAACTCTGGCTAGAATTTAATTCCGATACTGAAGGGACAGATGAAGGCTTTCAACTTGTGTATACCA___GTTTTGAACTCTCACACTGTGAAGATCCTGGCATTCCACAATTTGGATACAAGATCAGTGACCAAGGCCACTTTGCTGGTAGCACCATCATTTATGGATGCAATCCAGGCTACACTCTCCACGGAAGTAGCCTTCTCAAGTGCATGACAGGGGAGAGAAGGGCATGGGACTATCCTCTGCCTTCCTGTATTG___CTGAATGTGGAGGTCGTTTTAAAGGAGAATCATCAGGAAGAATCTTATCTCCTGGCTATCCTTTTCCATATGACAATAACCTGCGTTGCATGTGGATGATTGAGGTAGATCCTGGAAATATTGTCAG___CTTGCAGTTTCTTGCTTTTGATACGGAAGCATCACATGATATACTCCGAGTCTGGGACGGTCCACCAGAAAATGATATGCTTTTAAAGGAAATTAGTGGATCTCTTATTCCTGAAGGAATTCATAGCACCCTCAATATAGTAACCATCCAGTTTGACACGGATTTTTATATTAGCAAATCTGGATTTGCAATTCAGTTTTCAA___GTTCTGTTGCCACTGCGTGTCGTGACCCAGGGGTCCCCATGAATGGGACTCGAAATGGGGATGGAAGAGAACCTGGGGACACTGTTGTTTTTCAATGTGACCCAGGATATGAACTTCAAGGAGAGGAAAGAATAACCTGCATTCAGGTAGAAAATCGGTACTTCTGGCAGCCCAGCCCACCAGTCTGTATAG___CACCCTGTGGAGGCAATTTAACAGGATCTTCAGGCTTTATTCTTTCACCAAACTTCCCTCATCCATATCCGCATAGCAGAGACTGTGACTGGACTATCACCGTCAATGCAGACTATGTTATCTCCTTGGCGTTCATCAG___TTTTAGCATAGAACCAAACTATGACTTCCTCTATATCTATGATGGACCAGACAGTAATAGCCCACTGATTGGAAGTTTTCAAGACAGCAAGTTACCAGAGAGAATAGAAAGCAGCTCAAATACAATGCATTTGGCTTTTCGGAGTGATGGATCTGTTAGTTACACTGGATTTCATCTAGAATACAAAG___CAAAACTGCGAGAGTCCTGCTTTGATCCAGGCAATATAATGAATGGCACCAGACTTGGAATGGATTATAAATTAGGGTCAACAGTCACCTATTACTGTGATGCTGGTTATGTTCTTCAAGGTTATTCAACACTCACCTGTATCATGGGAGATGATGGAAGACCTGGATGGAATAGAGCCTTGCCAAGTTGTCATG___CGCCCTGTGGAAGTCGTTCAACAGGTTCAGAAGGCACTGTTCTATCACCAAACTATCCAAAAAATTACAGTGTGGGACATAATTGTGTTTATTCTATAGCAGTTCCAAAGGAGTTTG___TGGTGTTTGGCCAGTTTGTATTTTTCCAGACATCACTCCACGATGTTGTTGAGGTGTATGATGGGCCAACTCAGCAATCTTCTCTGTTATCTTCCCTCTCAGGATCCCATTCAG___GAGAATCACTTCCACTGAGTTCAGGTAATCAGATCACAATTCGATTTACTTCAGTTGGACCAATAACAGCTAAGGGATTTCACTTTGTTTACCAAG___CTGTTCCTAGAACAAGTTCTACACAATGCAGTTCTGTGCCTGAACCAAGATTCGGAAGAAGAATTGGCAATGAATTTGCAGTCGGTTCATCGGTTCTTTTTGATTGTAATCCAGGATATATTCTCCATGGATCCATAGCAATTAGGTGTGAAACAGTGCCCAATTCTTTGGCCCAGTGGAATGATTCCTTACCTACTTGTATTG___TGCCCTGTGGTGGAATTTTAACTAAGCGCAAAGGGACTATTTTGTCACCTGGATACCCTGAGCCTTATGACAACAATCTGAATTGTGTGTGGAAGATCACAGTGCCAGAGGGAGCTGGCATTCAA___GTGCAAGTTGTTAGCTTTGCTACAGAACATAATTGGGATTCTCTGGACTTTTATGATGGGGGAGACAACAATGCTCCAAGACTTGGAAGCTATTCAG___GAACAACAATACCCCATCTTTTGAATAGTACGTCTAATAATCTGTATCTAAATTTTCAATCAGACATCAGTGTTTCTGCTGCAGGATTTCATCTTGAATACACAG___CAATTGGTTTGGATTCCTGTCCTGAACCACAAACTCCTAGCAGTGGAATTAAAATTGGAGACAGATATATGGTTGGAGATGTAGTATCCTTTCAGTGTGATCAAGGATATTCTCTTCAG___GGTCACTCTCACATTACATGTATGCCAGGACCTGTAAGAAGATGGAATTATCCAATCCCAATTTGTTTAG___CTCAGTGTGGTGGTGCTATGTCAGACTTCAGTGGTGTGATCCTCAGTCCTGGGTTTCCTGGAAACTATCCCAGCAGTTTAGATTGCACATGGACAATAAATCTACCCATAGGTTTTG___GTGTACATCTCCAGTTTGTAAATTTTTCTACAGAAACCATACATGATTATTTGGAAGTACGAAGTGGATCCTCAGAAACTAGTACTGTTATTGGCCGGCTTAGTGGTCCTCAAATACCATCTTCCTTATTCAGCACCACCCATGAAACCAGCTTATATTTTCACAGTGACTATTCACAAAACAAACAAGGGTTTCATATTGTATACCAAG___CCTATCAGTTGCAAAGCTGTCCTGATCCACGCCCGTTTCGAAATGGTTTTGTAATTGGTAATGATTTTACTGTGGGTCAAACCATTTCATTTGAATGTTTCCCAGGATACACATTAATTGGAAATTCAGCTCTCACATGCCTTCACGGAGTCAGTCGTAATTGGAATCATCCACTTCCAAGGTGTGAAG___CTCTTTGTGGTGGGAATATAACTGCAATGAATGGCACCATTTATTCTCCTGGGTATCCTGATGAATATCCAAACTTTCAAGATTGTTTTTGGCTTGTAAGAGTACCCCCTGGGAATGGCATCTACATCAATTTTACTGTCCTTCAAACAGAACCAATATATGATTTCATTACTGTATG___GGATGGACCAGACCAAAATTCACCTCAGATCGGTCAGTTCAGTGGCAATACCGCTTTGGAATCAGTCTACAGTACTTCAAATCAGATTCTAATCAAATTCCACAGTGATTTCACAACAAGTGGCTTTTTTGTGCTCAGTTATCACG___CCTATCAACTAAGGGTGTGCCAACCTCCACCACCTGTGCCCAATGCTGAAATTTTGACGGAAGATGATGAATTTGAAATAG___GTGATATTATTAGGTATCAGTGTCTTCCAGGATTTACTTTAGTTGGTAATGCAATTCTGACGTGCAGATTAGGAGAACGACTGCAGATGGATGGAGCACCTCCAGTTTGTCAAG___TGCTCTGTCCTGCCAATGAATTACGGCTAGATTCTACTGGAGTCATATTGAGCCCTGGATATCCTGACAGTTACCCAAATCTTCAAATGTGTGCATGGAGCATTTCAGTGGAAAAGGGTTATAATATCACCATGTTTGTAGAATTCTTCCAGACAGAAAAGGAATTTGATGTTCTTCAGGTGTATGATG___GACCAAATATTCAAAGTCCAGTGCTTATTTCCCTCAGTGGGGATTATTCATCTGCTTTTAATATAACAAGCAATGGTCATGAAGTATTTCTTCAGTGGTCAGCAGATCATGGCAATAACAAAAAAGGCTTCCGGATAAGATATATAG___CTTTCTACTGTAGTACACCAGAATCCCCACCTCATGGATATATTATCAGTCAGACAGGTGGGCAGCTTAACAGTGTGGTCCGTTGGGCCTGTGATCGAGGATTCCGACTTGTTGGAAAAAGCAGTGCTGTGTGCAGAAAGTCTTCCTATGGGTATCATGCATGGGATGCGCCAGTCCCTGCCTGTCAAG___CAATTTCCTGTGGGATTCCTAAAGCTCCAACAAATGGAGGAATACTAACAACAGACTATTTGGTAGGAACGCGAGTTACCTATTTTTGTAATGATGGATATCGATTGTCATCCAAAGAACTCACTACAGCTGTATGCCAATCAGATGGAACATGGAGCAATCATAACAAGACCCCTCGCTGTGTTG___TTGTTACATGTCCAAGCATCAATTCCTTTATCTTGGAACATGGAAGATGGCGAATTGTGAATGGCTCCCATTATGAATACAAAACCAAAGTAGTTTTCAGCTGTGACCCTGGTTATCATGGACTAGGTCCTGCCTCCATCGAATGTCTTCCTAATGGTACTTGGAGTTGGAGAAATGAAAGACCATATTGCCAAA___TTATTTCCTGTGGAGAACTACCTACACCTCCAAATGGAAATAAGATTGGAACTCAAACTTCATATGGCTCAACAGCTATCTTTACCTGCGACTTGGGATTCATGCTTGTGGGCTCTGCTGTAAGGGAATGCCTTTCCTCAGGTCTTTGGAGTGAATCTGAAACCAGATGCCTAG___CGGGTCATTGTGGAATTCCAGAACTGATTGTGAATGGTCAAGTCATTGGAGAAAATTATGGATATAGAGACACAGTTGTATATCAATGTAATCCTGGTTTTCGATTGATTGGTTCTTCAGTGAGGATATGTCAACAGGATCACAATTGGTCTGGTCAGCTCCCATCCTGTGTGC___CTGTTAGCTGTGGTCACCCTGGTAGTCCAATTTATGGAAGAACAAGTGGAAATGGGTTCAACTTTAATGATGTGGTAACATTCTCATGCAATATTGGGTATCTTATGCAAGGGCCAACAAAGGCACAGTGCCAGGCCAACAGACAGTGGAGCCATCCTCCACCTATGTGCAAAG___TGGTCAACTGTTCTGATCCTGGAATTCCAGCCAATTCTAAAAGAGAAAGTAAAATAGAACATGGAAATTTTACTTACGGCACTGTGGTATTCTATGACTGCAATCCTGGATATTTTTTATTTGGATCTTCAGTTTTGATATGTCAACCAAATGGACAATGGGACAAACCTTTACCAGAATGTATCA___TGATTGACTGTGGACACCCTGGCGTTCCTCCTAATGCAGTCCTGTCTGGCGAGAAGTATACTTTTGGGTCTACTGTTCACTATTCCTGCACAGGAAAGCGTTCCCTTTTAGGCCAGTCATCAAGAACCTGCCAATTGAATGGCCATTGGAGTGGATCACAACCTCATTGTTCAG___GTGATGCTACTGGGACATGTGGCGATCCAGGTACTCCCGGCCATGGCTCTAGACAGGAAAGCAATTTCAGAACTAAAAGTACTGTACGTTATGCTTGTGATACTGGTTACATCCTTCATGGCTCAGAAGAAAGAACATGTTTAGCTAATGGCAGTTGGACCGGAAGGCAGCCAGAGTGCAAAG___CTGTGCAGTGTGGTAACCCAGGAACCACAGCCAATGGGAAAGTCTTCCGAATTGATGGCACAACATTTTCTAGTTCAGTCATTTATTCCTGCATGGAGGGATACATCCTTTCTGGACCTTCAGTTAGACAGTGCACAGCCAATGGAACATGGTCTGGAACTTTACCTAACTGTACAA___TAATCAGTTGTGGAGACCCAGGTATACCAGCCAATGGACTGAGATATGGAGATGATTATGTGGTTGGACAAAATGTTTCTTACATGTGCCAGCCAGGCTACACGATGGAATTGAATGGCTCCAGAATCAGGACTTGTACAATTAATGGCACATGGAGTGGAGTAATGCCAACTTGTAGAG___CTGTTACCTGCCCAACTCCTCCCCAGATCTCTAATGGAAGGCTGGAAGGAACAAATTTCGACTGGGGCTTTAGTATTAGCTACATCTGTTCTCCAGGCTATGAGCTATCCTTCCCTGCTGTTTTGACCTGTGTAGGGAATGGTACCTGGAGTGGTGAAGTACCGCAGTGCTTAC___CAAAGTTTTGTGGTGACCCTGGTATACCTGCCCAAGGAAAAAGAGAAGGCAAAAGCTTTATATACCAGTCAGAGGTTTCATTCAGCTGCAATTTTCCTTTCATATTAGTGGGATCAAGCACCAGAATATGTCAAGCAGATGGCACTTGGAGTGGTTCATCACCTCACTGCATAG___AGCCTACCCAAACCTCTTGTGAAAACCCAGGTGTGCCTCGGCATGGATCTCAGAACAATACATTCGGATTTCAA___GTAGGAAGTGTTGTACAGTTCCATTGCAAAAAAGGACACCTTCTCCAAGGGTCTACAACACGCACCTGCCTCCCTGATCTTACGTGGAGTGGGATTCAGCCTGAATGCATAC___CCCACAGCTGTAAACAGCCAGAAACTCCTGCTCATGCAAATGTCGTAGGGATGGACCTTCCATCTCATGGGTATACACTGATTTATACCTGTCAGCCTGGCTTCTTCTTAGCAGGTGGAACAGAACATAGAGTGTGTAGATCCGATAACACCTGGACTGGAAAAGTTCCCATTTGTGAAG___CTGGTTCTAAAATATTGGTGAAAGATCCTAGACCTGCACTGGGAACACCCAGCCCAAAGCTAAGTG___TTCCTGATGATGTATTTGCCCAAAATTATATATGGAAAGGCTCTTACAATTTCAAAGGAAGGAAACAACCCATGACCTTAACAGTTACTAGTTTCAATGCTTCCACTGGGAGAGTTAACGCAACACTGAGCAATAGCAACATGGAGCTGCTACTTTCAG___GGGTATATAAAAGCCAGGAAGCTCGCCTAATGTTACGCATATATCTTATTAAAGTACCTGCTCATGCTTCTGTGAAGAAAATGAAGGAAGAAAATTGGGCAATGGATGGCTTT___GTTTCTGCTGAGCCTGATGGAGCTACTTATGTATTTCAAGGATTTATTCAAGGCAAAGATTATGGACAATTTGGCCTACAAAGACTGG___GACTGAATATGTCAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAATAGTAGTTCTGTAGCCATTGCTATTCTTGTGCCTTTTTTTGCACTTATATTTGCAGGATTTGGATTTTATCTTTATAAACAAAG___GACTGCACCTAAAACACAGTATACAGGATGTTCAGTTCATGAAAATAACAATGGCCAAGCAGCTTTTGAAAATCCCATGTATGACACCAACGCAAAGTCAGTGGAAGGGAAGGCGGTACGATTTGATCCCAACTTGAACACGGTTTGCACAATGGTATAACGAGGCAACCTTTGCCTTCTTCAGAAGCTTGGAAATCGACACACAAAACAGTGCACATTTAGTTCACTGCTAAACAAATTAAAGCACACTTTTCAGGACTTGCTGGGTCACCTTTTCCTGAGGAATGATACAGAAGAGTGTTTTTTCATAAACTGGACCATAATTCTTCATGTTTACCATGGAGAGTTTTACAGAAATTTGGCTGCACTCTGAGAGTGCTTACTCACAGTTTATTTGCTTTTTTTAAAAAGGAGATTATTCTAAAATATAAACTTATTTGCATATATTGGAGGAGCATCCACTATCAGTATTTCTGTGCTTTATAAACTATATTAGAGGGACTGGGTTTAAAAAAAAAGATATAGGGTAGAAATAAGAGCTATACTTACAAGAGTCAATAGATCACTGACTTCTCTTTAACTGTCCTGAGCTACATCACGCCCACAAATCTGTCTTTCATACCACTCTATCTGCCATTCATTCTTGTTAAATGAGGCATTGTTTTCTTTATTTAAGATTGAGTTATGACTTTAAATGTTTATGAGCTAGTTTATGCCTCGGAAGACATAAGGTTTCCCATTCCAATTTGAATCTTTCTATTTCTTTAGCATCATATTGCTCTTCTTCTTTTAGACTGGTTGTCATAGTTTCTGCAAAGGGCAAGTTCATTGTGCTACCCTCCCAATTCCCCCATTATGGAGTAACCAGTATTATTCAGTGAGCTATGGGGTAGTGTTTCACTCCTTGCTTCAATATGGTTTTTTCCTATTTATTTTTATTATTTTTTAATCCCAAATGTGATAGTAGCTTCAGTATGTTTCCTCACCCAAAAACCATTTGGCTGGCAGAAATTATCTAGAAAAATTATTATTTTGCAGTTATCTGAGACACCAAACTTACCATCCTTTATTTTACAATATTTTTGATCGACCAAATAAAATGTCCTAATAATCTACTCTATTTATATCTACATTTCCTTCCAGCTGAGTCTTCAAATTTAGCATTATTTTGACACTTTTAATTTTCATTTAACAATGGATTAGAAAAATATTTTGGTCTAGCCACTAAACATAATGACTGAAAAAAATTATTATTATAAATCACCAATATAAATTTATTGCCTACAATTGTGGACTTATCATATTTTTATATATTTTTAAATTTCTGTACCTTTATTGTTAAACACCAAGTTTCACATACAAGAGGTTTCTTTCATTGTCAAATTAAGATATGTATTTGTAAGTTATTGGTGGCTCATTTAAACTGTATCATACAGTAATGCCAGCATTTTTATTTAATAGGTCATCGTCTTCCTTTTATAGCTGTTTTACTTCATTGAATACGATCATGTACCCAGTGTTAACTCTTTGTTGTTGTCCCTTTCAAATATGGATAACTCTGTGAACAGTCTTGACTTTTTGTATCATGAGACAGAGTGCCTAAGAGAAACCCTTGCACCTGGGAGCGCTGCTTGGCTCTATCTCTACAACATTTAATGAATTTCTTGTAAACCACTTTGAGATACATTGTTTTGGAAATTCATACAATTTTCTCAACATGGTACTCTACTGGCAGGATGCAGTTTTAAATTTTATGCCATCAGTTATTTATTCTTGTTTATTCAAATGACTGCAATAACAATGATTCATTCATTAATGTTAAGGCTAATACATTTAAGATCTTGTTTAAACAATGTTTCTTCTGCAACTGGCTACTCCTCTTATATTAATGCATACACTTTTGTAAAGAAGTATATTTTTATGAAAAGAAACTTTGTAAAAGTATGATGTAAATTTTCAGTGCAATGTAAACAAAATAAAAATGGATAATTGCTTTTGTAAAA)$ . 11BR017 ENSG00000245164.8 ENSG00000164796.18 -/- -/- chr8:126292591 chr8:113098963 exon/splice-site CDS/splice-site deletion 1 1 0 20 3 high . . |CUB_domain(100%),Sushi_repeat_(SCR_repeat)(100%) . . ENSG00000245164.8 ENSG00000164796.18 ENST00000651482.1 ENST00000297405.10 upstream downstream . ^(GAGTAGCTGGGACTACAGGCGCCCGCGACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT)CTTCGTCTCCTGACCTCGTGATCCGCCCGCCTCGGTCCCCTAAAGTGCTGGGATTACAGGCATACACTCTTAAGTAACCTGGTGGGGACCCATCAAACTACAAAG|CTGAAGATGCTTGTGGAGGAACAATGAGAGGATCCAGTGGCATCATATCCAGCCCTAGTTTTCCTAATGAGTACCATAACAATGCTGATTGCACTTGGACCATTGTAGCAGAGCCTGGGGACACAATTTCACTCATATTTACTGATTTTCAAATGGAAGAGAAATATGATTACTTAGAAATAGAAGGTTCTGAGCCACCTACCATATG___GTTATCTGGAATGAATATACC(ACCACCAATTATCAGCAACAAAAACTGGCTCAGACTGCATTTTGTTACAGACAGCAATCATCGATACCGTGGATTTAGTGCTCCCTATCAAG___GTTCTTCTACATTGACCCACACTACCTCCACTGGTGAGTTAGAGGAGCATAACAGGACTACCACTGGTGCTATTGCTGTTGCTAGCACACCTGCAGATGTTACTGTATCCAGTGTTACAGCTGTCACCATCCATAGACTTTCCGAGGAACAGCGAGTGCAAGTTACGAGTCTCAGAAATTCAGGTCTGGACCCCAACACGTCCAAGGACGGGCTCTCTCCTCATCCAGCAGATACACAAAGTACCAGGAGAAGACCAAGACATGCTGAACAGATAGAAAGAACTAAAGAGCTTGCAGTTGTTACTCATAGAG___TGAAAAAGGCCATAGATTTTAAATCTAGAGGATTTAAATTGTTTCCAGGGAAAGACAACAGCAACAAGTTTTCTATCT___TAAATGAGGGAGGTATTAAAACAGCTTCCAATTTATGCCCAGATCCAGGAGAACCAGAAAATGGGAAGAGAATCGGATCAGATTTTAG___CCTTGGATCAACTGTGCAGTTCTCTTGTGATGAAGATTATGTCCTACAGGGCGCAAAGAGCATCACCTGTCAACGGATAGCTGAAGTTTTTGCTGCTTGGAGTGATCACAGGCCTGTGTGTAAAG___TGAAAACGTGTGGCTCTAATCTTCAAGGACCAAGTGGTACCTTTACATCTCCCAACTTTCCGTTCCAGTATGACAGCAATGCACAATGTGTCTGGGTCATCACAGCAGTGAATACAAATAAG___GTTATCCAGATAAATTTTGAAGAATTTGATCTGGAGATTGGCTATGATACCTTGACAATTGGCGATGGGGGCGAAGTTGGAGATCCTAGGACAGTGCTCCAAGT___GCTGACTGGAAGCTTTGTACCAGACTTGATAGTGAGCATGAGTAGCCAAATGTGGCTGCACCTTCAAACGGACGAAAGTGTTGGATCTGTTGGTTTCAAGGTTAACTACAAAG___AAATTGAGAAAGAAAGTTGTGGTGATCCTGGTACACCCTTATATGGAATTAGAGAAGGCGATGGATTTTCTAATCGTGATGTTTTAAGGTTTGAATGCCAGTTTGGGTTTGAATTAATTGGAGAGAAATCCATTGTTTGTCAAGAGAATAACCAATGGTCTGCAAACATACCCATCTGTATCT___TTCCCTGCCTGTCTAACTTTACTGCACCAATGGGAACAGTTCTTTCTCCTGATTACCCAGAAGGGTATGGAAATAATTTAAATTGCATCTGGACGATAATCTCTGATCCAGGGAGCCGGATACATCTTTCTTTCAATGACTTTGACCTGGAATCCCAGTTTGATTTCCTTGCTGTTAAAGATGGTGACTCTCCAGAATCCCCAATTCTTGGAACCTTTACTGGGGCTGAGGTGCCTTCCCATCTTACTAGTAATAGTCACATACTGCGATTGGAATTTCAGGCTGACCACTCAATGTCAGGACGTGGCTTTAACATCACTTACAACA___CATTTGGACATAATGAATGCCCTGATCCTGGAATACCAATCAATGCACGGCGGTTTGGGGACAACTTTCAATTAGGAAGTTCAATTTCAGTTATTTGTGAAGAAGGATTTATTAAAACCCAGGGAACAGAAACAATTACATGTATTCTTATGGATGGAAAAGTAATGTGGAGTGGACTGATTCCAAAATGTGGAG___CCCCATGTGGTGGCCATTTTTCAGCTCCCAGTGGAGTGATTCTCTCACCAGGATGGCCAGGATACTACAAAGACTCTTTGAATTGTGAGTGGGTGATTGAAGCTGAACCTGGACACTCTATCAAAATTACATTTGAAAG___ATTTCAGACTGAACTGAATTATGATGTTCTGGAAGTTCATGATGGGCCAAATCTTCTGTCACCCTTGCTTGGATCTTACAATGGCACCCAAGTGCCCCAGTTTCTATTTAGTAGCAGTAATTTTATATACCTTCTATTTACAACAGACAACAGTCGTTCCAATAATGGTTTCAAGATTCATTATGAAA___GTGTTACAGTGAACACGTATTCTTGTTTGGACCCTGGCATACCTGTACATGGCCGTCGCTATGGTCATGATTTCTCCATTGGCTCTACTGTTTCATTTAGTTGTGATTCAGGATACAGGTTGAGTCATGAAGAGCCCCTTCTATGCGAAAAAAACCACTGGTGGAGTCATCCACTTCCAACCTGTGATG___CATTATGTGGAGGAGATGTTAGAGGGCCTAGTGGAACAATCTTATCACCTGGTTACCCGGAATTTTATCCAAATTCTCTGAATTGTACATGGACTGTTGATGTAACCCATGGAAAAG___GTGTGCAGTTCAACTTCCACACTTTTCATTTGGAAGACCATCATGACTACTTACTGATCACAGAGAATGGCAGTTTTACCCAACCACTGGCACGCCTGACTGGTTCAGATCTTCCTCCAACAATCAATGCTGGTCTCTATGGAAATTTCAGGGCTCAATTGCGTTTCATTTCAGATTTTTCAATATCATATGAAGGATTTAACATAACATTCTCTG___AATATAACCTTGAACCTTGTGAAGATCCTGGCATTCCTCAATATGGTAGTCGAATCGGGTTCAACTTTGGGATTGGTGACACTCTGACCTTCTCATGCTCTTCGGGTTATCGACTGGAAGGAACATCAGAGATCATCTGTCTTGGTGGTGGCCGACGAGTGTGGAGTGCACCTCTGCCAAGGTGTGTGG___CTGAATGTGGTGCATCTGCAACGAATAATGAAGGAATTTTGCTGTCTCCAAATTATCCACTCAACTATGAAAACAACCATGAATGCATTTATAGTATTCAGGTTCAAGCAGGAAAGGGAATCAATATTTCAGCCAGAACATTTCATTTAGCACAAGGAGATGTTCTTAAG___ATTTATGATGGAAAAGATAAAACGACTCATCTACTAGGTGCTTTTACTGGTGCATCTATGCGCGGACTGACACTTAGTAGTACTTCAAATCAACTCTGGCTAGAATTTAATTCCGATACTGAAGGGACAGATGAAGGCTTTCAACTTGTGTATACCA___GTTTTGAACTCTCACACTGTGAAGATCCTGGCATTCCACAATTTGGATACAAGATCAGTGACCAAGGCCACTTTGCTGGTAGCACCATCATTTATGGATGCAATCCAGGCTACACTCTCCACGGAAGTAGCCTTCTCAAGTGCATGACAGGGGAGAGAAGGGCATGGGACTATCCTCTGCCTTCCTGTATTG___CTGAATGTGGAGGTCGTTTTAAAGGAGAATCATCAGGAAGAATCTTATCTCCTGGCTATCCTTTTCCATATGACAATAACCTGCGTTGCATGTGGATGATTGAGGTAGATCCTGGAAATATTGTCAG___CTTGCAGTTTCTTGCTTTTGATACGGAAGCATCACATGATATACTCCGAGTCTGGGACGGTCCACCAGAAAATGATATGCTTTTAAAGGAAATTAGTGGATCTCTTATTCCTGAAGGAATTCATAGCACCCTCAATATAGTAACCATCCAGTTTGACACGGATTTTTATATTAGCAAATCTGGATTTGCAATTCAGTTTTCAA___GTTCTGTTGCCACTGCGTGTCGTGACCCAGGGGTCCCCATGAATGGGACTCGAAATGGGGATGGAAGAGAACCTGGGGACACTGTTGTTTTTCAATGTGACCCAGGATATGAACTTCAAGGAGAGGAAAGAATAACCTGCATTCAGGTAGAAAATCGGTACTTCTGGCAGCCCAGCCCACCAGTCTGTATAG___CACCCTGTGGAGGCAATTTAACAGGATCTTCAGGCTTTATTCTTTCACCAAACTTCCCTCATCCATATCCGCATAGCAGAGACTGTGACTGGACTATCACCGTCAATGCAGACTATGTTATCTCCTTGGCGTTCATCAG___TTTTAGCATAGAACCAAACTATGACTTCCTCTATATCTATGATGGACCAGACAGTAATAGCCCACTGATTGGAAGTTTTCAAGACAGCAAGTTACCAGAGAGAATAGAAAGCAGCTCAAATACAATGCATTTGGCTTTTCGGAGTGATGGATCTGTTAGTTACACTGGATTTCATCTAGAATACAAAG___CAAAACTGCGAGAGTCCTGCTTTGATCCAGGCAATATAATGAATGGCACCAGACTTGGAATGGATTATAAATTAGGGTCAACAGTCACCTATTACTGTGATGCTGGTTATGTTCTTCAAGGTTATTCAACACTCACCTGTATCATGGGAGATGATGGAAGACCTGGATGGAATAGAGCCTTGCCAAGTTGTCATG___CGCCCTGTGGAAGTCGTTCAACAGGTTCAGAAGGCACTGTTCTATCACCAAACTATCCAAAAAATTACAGTGTGGGACATAATTGTGTTTATTCTATAGCAGTTCCAAAGGAGTTTG___TGGTGTTTGGCCAGTTTGTATTTTTCCAGACATCACTCCACGATGTTGTTGAGGTGTATGATGGGCCAACTCAGCAATCTTCTCTGTTATCTTCCCTCTCAGGATCCCATTCAG___GAGAATCACTTCCACTGAGTTCAGGTAATCAGATCACAATTCGATTTACTTCAGTTGGACCAATAACAGCTAAGGGATTTCACTTTGTTTACCAAG___CTGTTCCTAGAACAAGTTCTACACAATGCAGTTCTGTGCCTGAACCAAGATTCGGAAGAAGAATTGGCAATGAATTTGCAGTCGGTTCATCGGTTCTTTTTGATTGTAATCCAGGATATATTCTCCATGGATCCATAGCAATTAGGTGTGAAACAGTGCCCAATTCTTTGGCCCAGTGGAATGATTCCTTACCTACTTGTATTG___TGCCCTGTGGTGGAATTTTAACTAAGCGCAAAGGGACTATTTTGTCACCTGGATACCCTGAGCCTTATGACAACAATCTGAATTGTGTGTGGAAGATCACAGTGCCAGAGGGAGCTGGCATTCAA___GTGCAAGTTGTTAGCTTTGCTACAGAACATAATTGGGATTCTCTGGACTTTTATGATGGGGGAGACAACAATGCTCCAAGACTTGGAAGCTATTCAG___GAACAACAATACCCCATCTTTTGAATAGTACGTCTAATAATCTGTATCTAAATTTTCAATCAGACATCAGTGTTTCTGCTGCAGGATTTCATCTTGAATACACAG___CAATTGGTTTGGATTCCTGTCCTGAACCACAAACTCCTAGCAGTGGAATTAAAATTGGAGACAGATATATGGTTGGAGATGTAGTATCCTTTCAGTGTGATCAAGGATATTCTCTTCAG___GGTCACTCTCACATTACATGTATGCCAGGACCTGTAAGAAGATGGAATTATCCAATCCCAATTTGTTTAG___CTCAGTGTGGTGGTGCTATGTCAGACTTCAGTGGTGTGATCCTCAGTCCTGGGTTTCCTGGAAACTATCCCAGCAGTTTAGATTGCACATGGACAATAAATCTACCCATAGGTTTTG___GTGTACATCTCCAGTTTGTAAATTTTTCTACAGAAACCATACATGATTATTTGGAAGTACGAAGTGGATCCTCAGAAACTAGTACTGTTATTGGCCGGCTTAGTGGTCCTCAAATACCATCTTCCTTATTCAGCACCACCCATGAAACCAGCTTATATTTTCACAGTGACTATTCACAAAACAAACAAGGGTTTCATATTGTATACCAAG___CCTATCAGTTGCAAAGCTGTCCTGATCCACGCCCGTTTCGAAATGGTTTTGTAATTGGTAATGATTTTACTGTGGGTCAAACCATTTCATTTGAATGTTTCCCAGGATACACATTAATTGGAAATTCAGCTCTCACATGCCTTCACGGAGTCAGTCGTAATTGGAATCATCCACTTCCAAGGTGTGAAG___CTCTTTGTGGTGGGAATATAACTGCAATGAATGGCACCATTTATTCTCCTGGGTATCCTGATGAATATCCAAACTTTCAAGATTGTTTTTGGCTTGTAAGAGTACCCCCTGGGAATGGCATCTACATCAATTTTACTGTCCTTCAAACAGAACCAATATATGATTTCATTACTGTATG___GGATGGACCAGACCAAAATTCACCTCAGATCGGTCAGTTCAGTGGCAATACCGCTTTGGAATCAGTCTACAGTACTTCAAATCAGATTCTAATCAAATTCCACAGTGATTTCACAACAAGTGGCTTTTTTGTGCTCAGTTATCACG___CCTATCAACTAAGGGTGTGCCAACCTCCACCACCTGTGCCCAATGCTGAAATTTTGACGGAAGATGATGAATTTGAAATAG___GTGATATTATTAGGTATCAGTGTCTTCCAGGATTTACTTTAGTTGGTAATGCAATTCTGACGTGCAGATTAGGAGAACGACTGCAGATGGATGGAGCACCTCCAGTTTGTCAAG___TGCTCTGTCCTGCCAATGAATTACGGCTAGATTCTACTGGAGTCATATTGAGCCCTGGATATCCTGACAGTTACCCAAATCTTCAAATGTGTGCATGGAGCATTTCAGTGGAAAAGGGTTATAATATCACCATGTTTGTAGAATTCTTCCAGACAGAAAAGGAATTTGATGTTCTTCAGGTGTATGATG___GACCAAATATTCAAAGTCCAGTGCTTATTTCCCTCAGTGGGGATTATTCATCTGCTTTTAATATAACAAGCAATGGTCATGAAGTATTTCTTCAGTGGTCAGCAGATCATGGCAATAACAAAAAAGGCTTCCGGATAAGATATATAG___CTTTCTACTGTAGTACACCAGAATCCCCACCTCATGGATATATTATCAGTCAGACAGGTGGGCAGCTTAACAGTGTGGTCCGTTGGGCCTGTGATCGAGGATTCCGACTTGTTGGAAAAAGCAGTGCTGTGTGCAGAAAGTCTTCCTATGGGTATCATGCATGGGATGCGCCAGTCCCTGCCTGTCAAG___CAATTTCCTGTGGGATTCCTAAAGCTCCAACAAATGGAGGAATACTAACAACAGACTATTTGGTAGGAACGCGAGTTACCTATTTTTGTAATGATGGATATCGATTGTCATCCAAAGAACTCACTACAGCTGTATGCCAATCAGATGGAACATGGAGCAATCATAACAAGACCCCTCGCTGTGTTG___TTGTTACATGTCCAAGCATCAATTCCTTTATCTTGGAACATGGAAGATGGCGAATTGTGAATGGCTCCCATTATGAATACAAAACCAAAGTAGTTTTCAGCTGTGACCCTGGTTATCATGGACTAGGTCCTGCCTCCATCGAATGTCTTCCTAATGGTACTTGGAGTTGGAGAAATGAAAGACCATATTGCCAAA___TTATTTCCTGTGGAGAACTACCTACACCTCCAAATGGAAATAAGATTGGAACTCAAACTTCATATGGCTCAACAGCTATCTTTACCTGCGACTTGGGATTCATGCTTGTGGGCTCTGCTGTAAGGGAATGCCTTTCCTCAGGTCTTTGGAGTGAATCTGAAACCAGATGCCTAG___CGGGTCATTGTGGAATTCCAGAACTGATTGTGAATGGTCAAGTCATTGGAGAAAATTATGGATATAGAGACACAGTTGTATATCAATGTAATCCTGGTTTTCGATTGATTGGTTCTTCAGTGAGGATATGTCAACAGGATCACAATTGGTCTGGTCAGCTCCCATCCTGTGTGC___CTGTTAGCTGTGGTCACCCTGGTAGTCCAATTTATGGAAGAACAAGTGGAAATGGGTTCAACTTTAATGATGTGGTAACATTCTCATGCAATATTGGGTATCTTATGCAAGGGCCAACAAAGGCACAGTGCCAGGCCAACAGACAGTGGAGCCATCCTCCACCTATGTGCAAAG___TGGTCAACTGTTCTGATCCTGGAATTCCAGCCAATTCTAAAAGAGAAAGTAAAATAGAACATGGAAATTTTACTTACGGCACTGTGGTATTCTATGACTGCAATCCTGGATATTTTTTATTTGGATCTTCAGTTTTGATATGTCAACCAAATGGACAATGGGACAAACCTTTACCAGAATGTATCA___TGATTGACTGTGGACACCCTGGCGTTCCTCCTAATGCAGTCCTGTCTGGCGAGAAGTATACTTTTGGGTCTACTGTTCACTATTCCTGCACAGGAAAGCGTTCCCTTTTAGGCCAGTCATCAAGAACCTGCCAATTGAATGGCCATTGGAGTGGATCACAACCTCATTGTTCAG___GTGATGCTACTGGGACATGTGGCGATCCAGGTACTCCCGGCCATGGCTCTAGACAGGAAAGCAATTTCAGAACTAAAAGTACTGTACGTTATGCTTGTGATACTGGTTACATCCTTCATGGCTCAGAAGAAAGAACATGTTTAGCTAATGGCAGTTGGACCGGAAGGCAGCCAGAGTGCAAAG___CTGTGCAGTGTGGTAACCCAGGAACCACAGCCAATGGGAAAGTCTTCCGAATTGATGGCACAACATTTTCTAGTTCAGTCATTTATTCCTGCATGGAGGGATACATCCTTTCTGGACCTTCAGTTAGACAGTGCACAGCCAATGGAACATGGTCTGGAACTTTACCTAACTGTACAA___TAATCAGTTGTGGAGACCCAGGTATACCAGCCAATGGACTGAGATATGGAGATGATTATGTGGTTGGACAAAATGTTTCTTACATGTGCCAGCCAGGCTACACGATGGAATTGAATGGCTCCAGAATCAGGACTTGTACAATTAATGGCACATGGAGTGGAGTAATGCCAACTTGTAGAG___CTGTTACCTGCCCAACTCCTCCCCAGATCTCTAATGGAAGGCTGGAAGGAACAAATTTCGACTGGGGCTTTAGTATTAGCTACATCTGTTCTCCAGGCTATGAGCTATCCTTCCCTGCTGTTTTGACCTGTGTAGGGAATGGTACCTGGAGTGGTGAAGTACCGCAGTGCTTAC___CAAAGTTTTGTGGTGACCCTGGTATACCTGCCCAAGGAAAAAGAGAAGGCAAAAGCTTTATATACCAGTCAGAGGTTTCATTCAGCTGCAATTTTCCTTTCATATTAGTGGGATCAAGCACCAGAATATGTCAAGCAGATGGCACTTGGAGTGGTTCATCACCTCACTGCATAG___AGCCTACCCAAACCTCTTGTGAAAACCCAGGTGTGCCTCGGCATGGATCTCAGAACAATACATTCGGATTTCAA___GTAGGAAGTGTTGTACAGTTCCATTGCAAAAAAGGACACCTTCTCCAAGGGTCTACAACACGCACCTGCCTCCCTGATCTTACGTGGAGTGGGATTCAGCCTGAATGCATAC___CCCACAGCTGTAAACAGCCAGAAACTCCTGCTCATGCAAATGTCGTAGGGATGGACCTTCCATCTCATGGGTATACACTGATTTATACCTGTCAGCCTGGCTTCTTCTTAGCAGGTGGAACAGAACATAGAGTGTGTAGATCCGATAACACCTGGACTGGAAAAGTTCCCATTTGTGAAG___CTGGTTCTAAAATATTGGTGAAAGATCCTAGACCTGCACTGGGAACACCCAGCCCAAAGCTAAGTG___TTCCTGATGATGTATTTGCCCAAAATTATATATGGAAAGGCTCTTACAATTTCAAAGGAAGGAAACAACCCATGACCTTAACAGTTACTAGTTTCAATGCTTCCACTGGGAGAGTTAACGCAACACTGAGCAATAGCAACATGGAGCTGCTACTTTCAG___GGGTATATAAAAGCCAGGAAGCTCGCCTAATGTTACGCATATATCTTATTAAAGTACCTGCTCATGCTTCTGTGAAGAAAATGAAGGAAGAAAATTGGGCAATGGATGGCTTT___GTTTCTGCTGAGCCTGATGGAGCTACTTATGTATTTCAAGGATTTATTCAAGGCAAAGATTATGGACAATTTGGCCTACAAAGACTGG___GACTGAATATGTCAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAATAGTAGTTCTGTAGCCATTGCTATTCTTGTGCCTTTTTTTGCACTTATATTTGCAGGATTTGGATTTTATCTTTATAAACAAAG___GACTGCACCTAAAACACAGTATACAGGATGTTCAGTTCATGAAAATAACAATGGCCAAGCAGCTTTTGAAAATCCCATGTATGACACCAACGCAAAGTCAGTGGAAGGGAAGGCGGTACGATTTGATCCCAACTTGAACACGGTTTGCACAATGGTATAACGAGGCAACCTTTGCCTTCTTCAGAAGCTTGGAAATCGACACACAAAACAGTGCACATTTAGTTCACTGCTAAACAAATTAAAGCACACTTTTCAGGACTTGCTGGGTCACCTTTTCCTGAGGAATGATACAGAAGAGTGTTTTTTCATAAACTGGACCATAATTCTTCATGTTTACCATGGAGAGTTTTACAGAAATTTGGCTGCACTCTGAGAGTGCTTACTCACAGTTTATTTGCTTTTTTTAAAAAGGAGATTATTCTAAAATATAAACTTATTTGCATATATTGGAGGAGCATCCACTATCAGTATTTCTGTGCTTTATAAACTATATTAGAGGGACTGGGTTTAAAAAAAAAGATATAGGGTAGAAATAAGAGCTATACTTACAAGAGTCAATAGATCACTGACTTCTCTTTAACTGTCCTGAGCTACATCACGCCCACAAATCTGTCTTTCATACCACTCTATCTGCCATTCATTCTTGTTAAATGAGGCATTGTTTTCTTTATTTAAGATTGAGTTATGACTTTAAATGTTTATGAGCTAGTTTATGCCTCGGAAGACATAAGGTTTCCCATTCCAATTTGAATCTTTCTATTTCTTTAGCATCATATTGCTCTTCTTCTTTTAGACTGGTTGTCATAGTTTCTGCAAAGGGCAAGTTCATTGTGCTACCCTCCCAATTCCCCCATTATGGAGTAACCAGTATTATTCAGTGAGCTATGGGGTAGTGTTTCACTCCTTGCTTCAATATGGTTTTTTCCTATTTATTTTTATTATTTTTTAATCCCAAATGTGATAGTAGCTTCAGTATGTTTCCTCACCCAAAAACCATTTGGCTGGCAGAAATTATCTAGAAAAATTATTATTTTGCAGTTATCTGAGACACCAAACTTACCATCCTTTATTTTACAATATTTTTGATCGACCAAATAAAATGTCCTAATAATCTACTCTATTTATATCTACATTTCCTTCCAGCTGAGTCTTCAAATTTAGCATTATTTTGACACTTTTAATTTTCATTTAACAATGGATTAGAAAAATATTTTGGTCTAGCCACTAAACATAATGACTGAAAAAAATTATTATTATAAATCACCAATATAAATTTATTGCCTACAATTGTGGACTTATCATATTTTTATATATTTTTAAATTTCTGTACCTTTATTGTTAAACACCAAGTTTCACATACAAGAGGTTTCTTTCATTGTCAAATTAAGATATGTATTTGTAAGTTATTGGTGGCTCATTTAAACTGTATCATACAGTAATGCCAGCATTTTTATTTAATAGGTCATCGTCTTCCTTTTATAGCTGTTTTACTTCATTGAATACGATCATGTACCCAGTGTTAACTCTTTGTTGTTGTCCCTTTCAAATATGGATAACTCTGTGAACAGTCTTGACTTTTTGTATCATGAGACAGAGTGCCTAAGAGAAACCCTTGCACCTGGGAGCGCTGCTTGGCTCTATCTCTACAACATTTAATGAATTTCTTGTAAACCACTTTGAGATACATTGTTTTGGAAATTCATACAATTTTCTCAACATGGTACTCTACTGGCAGGATGCAGTTTTAAATTTTATGCCATCAGTTATTTATTCTTGTTTATTCAAATGACTGCAATAACAATGATTCATTCATTAATGTTAAGGCTAATACATTTAAGATCTTGTTTAAACAATGTTTCTTCTGCAACTGGCTACTCCTCTTATATTAATGCATACACTTTTGTAAAGAAGTATATTTTTATGAAAAGAAACTTTGTAAAAGTATGATGTAAATTTTCAGTGCAATGTAAACAAAATAAAAATGGATAATTGCTTTTGTAAAA)$ . 11BR017 ENSG00000156650.14 ENSG00000148655.15 +/+ +/+ chr10:74843478 chr10:75796207 CDS/splice-site intron deletion 1 1 0 19 2 high in-frame . linker_histone_H1_and_H5_family(100%)| . . ENSG00000156650.14 ENSG00000148655.15 ENST00000648725.1 ENST00000611255.5 downstream upstream . ^(AGAACGCGGCTGAGCTCGCCAGCTCCTCGCAGGCAGGGAGAGAGCATCCTGGGGGGCAGCTTCCCCCTCCAGCCCGCGTCTGACATCCCCACTCCCACACAAGGATGCCGCCGCCGTGCCCTGTCCGCAGTCGCTGAATGTCACTGCTCCCTCTTCCTCCCGATCAGGGTAGACACAGCTCCCGAGGCGTCCCCCACCCCAAAACTGCCGCGATCGCCCGAAGGCGCAAAGCCTGGGCGAAGGACGAAGTTTGGGGCCCACAGCGACGGGAGTGGGGACGCGTTGGCGAGGACCGCACCTCAGTCCCAGCCCTGGCGGGCACACTCCCCGCCCCAAACGGCCCAGGCGTCCCCATCCTCCCGCGGACACCAGCGTCTCCGCCCTCCCCCGAGGGCGGCGAGAGGAGCCCCCCGGGGCGGAG___ATTTGCCTGAAGACCTGGATAATCTCCATTTTTGTCATGGACTGTTAAAACGTTTGAAGTTCCAATTCTG___GTCTTGATTTCCCAGTTAAAGATGTTCTTCACCCGAATGCAGTCTTTCCTGTTGGTAAAATAAGACAACCATCAACATTGCCTGTTTGTCTGCTTTTGAATCTCTTAAGGATGGATGTTTGTAAGATGTTGCTTAATACAGTCTGGAATACTCTGTCCATTTGTTGAATTGTAAATGACTTTCAAATGTGCAAGTTCTGTTAAATACAAAGAGAACCTCTATGGGTAACTTTTGTGTTGAAGAAGTCATTTGTCAACCATGGTAAAACTTGCAAACCCACTTTATACAGAGTGGATTCTTGAAGCTATACAGAAAATAAAAAAGCAAAAGCAAAGGCCCTCTGAAGAGAGAATCTGCCATGCGGTCAGTACTTCCCATGGGTTGGATAAGAAGACAGTCTCTGAACAGCTGGAACTCAGTGTTCAGGATGGCTCAGTTCTCAAAGTCACCAACAAAGGCCTTGCCTCCTATAAGGACCCAGACAACCCTGGGCGCTTTTCATCAGTTAAACCAGGCACTTTTCCTAAGTCAGCCAAGGGGTCTAGAGGATCATGTAATGATCTCCGCAATGTGGATTGGAATAAACTTTTAAGGAGAGCAATTGAAGGACTTGAGGAGCCGAATGGCTCCTCCCTGAAGAACATAGAGAAGTATCTCAGAAGTCAAAGTGATCTCACAAGCACCACCAACAACCCAGCCTTTCAGCAGCGGCTGCGACTGGGGGCCAAACGCGCTGTGAATAATGGGAGGTTACTGAAAGACGGACCGCAGTACAGGGTCAATTATGGGAGCTTAGAT)GGCAAAGGGGCACCTCAGTATCCCAGTGCATTCCCATCCTCGCTCCCACCTGTCAGCCTTCTACCCCATGAGAAAGACCAG|AGGTTCCAGTACAATGATGAACAGAAGAG___GTCACTGGAAGGACTGAGCGCATTCAGGAGCCTGGAGGAACTCATCTTGGACAACAATCAGCTGGtGGACGACCTTGTGTTGCCAGGGTTACCCAGACTGCATACCTTAACCCTCAACAAGAAC(CGA___ATCACTGATTTGGAGAACCTGCTGGATCACTTGGCAGAAGTGACACCAGCTCTGGAGTACCTCAGTCTGCTGGGCAACGTGGCCTGTCCCAACGAGCTGGTCAGCTTGGAAAAGGATGAGGAAGACTACAAGAGATACAG___ATGCTTTGTTCTGTACAAGCTGCCCAACTTGAAATTTCTGGATGCCCAGAAAGTAACCAGACAAGAACGAGAGGAGGCGTTGGTCAGAGGAGTCTTCATGAAGGTGGTGAAGCCCAAG___GCTTCTAGTGAGGACGTTGCCAGCTCCCCGGAGCGCCACTACACGCCCTTGCCTTCTGCTTCCAGGGAACTCACCAGTCACCAAG___GTGTCCTGGGGAAGTGTCGCTACGTTTACTATGGGAAAAACTCAGAGGGCAACAGGTTTATCCGAGATGACCAGCTCTGAAGCCAACTTCTGTATACCTTCACCCATTTCATGAAAATAAAATCAAAAGGGAAATCAAAAATAAAGAAAACGCTAAAGAAAAAACAATAGCCCACATTGCCTCTCTTTGGGAAAAGCTATGACTTCAGCTTTTGGTACCTTCCGCTGACTTTGCCAGGCCTGTCAAGATGATCCTTCTGCCTTAGACTGAGTGGTCACATAGAGATTGACATGATTGCCCTTAAGCAGGTCTCATCCACCAGGGTGACAGACAGCGGTGGCAAAGCAACAGGGCTGACAGCATGAACACCATGATAGATTGCCTGGTCCTGCCACTGCTCACAGGGGAGCAGAGGTCACACCTGGGGCCTCCCTGGACATGCTCAGTGGCTGCAGTCAAGTGAGAAAGACTGTCCTCAGCTCGCCTATTGAATTGAAATCCCTCTGATACCATCGTGCTGTGGGCTTATTTTTAGTGAAATAGTCACAGTTTAGGGGATGGCCATTCTCCCTCACTCCTTTTAAATCTTAACGTCCTGTATTCTGCATATACATAGCTCCCGTCTCTTCCCCTCCACCTTCCTTTAGCATCGATTTTATGACAGGTGGTGCATTTCAGTTTGCAGTTTTTCGGAGAACAAGGTATAACTTCCCAGCCAGGTCATACATTTATGGCTGGCTTCATGTTGCTACAATCCCTTTATTGGCGTAAATAGCTTTCCCTAAATCCCTGACTACAAAAGCGTGGACTTTTATCTTGTTTCATTCAACTCTAAATCCACTTCTTGCCCTGAATATGATGCAGTGTAAGGCATAAGGCATCTTTCTCAGCATGAGGGTTTGGTTGCACCAGGGACTCTTATTTATTAATTTATTTTTAACCGTACACACTTCCAGTGATGCCTGTGGCCATACTTGTGCGTGGGGCTGGCTTGCTCCTTTGGGTGCTATTTAAAGGGAGTGAGGTGATGAAAGATAGAGTGAAGGGTCAGGAGGTTAAAAAACAAAATTAAGACTGTTGAAAACACCCACCAGACCAAAGAGTTTTTATAGAAGGCACAAACCTTTTGGATTTTGCATCTTTGTCATGACCTCTCAGAAATCAAATCCACAGGTTGTGAGACAGTGCTCTGTCTTCCTGTATGCTTGGCTGTGCACTAGCACTAATGTCACAAGGAACATAAGTGTGATCATTGCTAGTTGGGTGACTCAAAGTTTATCTAACTTGCTGGTGCACCAGTCAAATCACTCTAGAAGATGTTCAAAAGGTTGATTGATTGTTCTTGACACGATAGTGTTTATTTTTCTGCTTCTTCCATTTAGACCAAGTGTTCATTGTCCTCCCAGTATTAGGTCAGTTTGATGACAGCAAAACCTGAAAGAGAATCCCTCCAAGTTATAGATACTGAGGGACTAGGAGCTGCTATTGTAAAACTATGGGGACTCAGAATCCCTAAGCTGCCCAAGGAGAACCTACTTTCTCAGCTCTAGCCCGTTTACATAGCCTCTGGCCCACTGAGTCAACACAGGCCTTGAATGACATGTATTGAGGCTGGCAGGAGTCCCTGTTTGAGATTACACAACCTTTGTTAATCAGTTCTTTAGACAAGTTAACATTAAAATCCTCAAAACCATGAAAAATTGGAGAATGTTGAATGTTTGCATTTATCTCTCAAATCCATTAGTAACTGGATTTGAGTACCTTTTCTCTGTTTGATCTACAAAACAGCACTGGAAAAATGCTTTAAATTATCTGCATTTGGTCCCACCCTGGGTCATTGTTTAGAAGCATCAACACATGTTTTCTCCCTGGCATAATATGGGCAGCCAGAATTCTGTGCAAGGGCAGCTAGACGAGTCAGATGTCATATCCAATCTAGCCACACATATATCCTTGTCTTTATAAAAGGCTTTAACCCTGCCTCAAACAATAAAAAAGCACTTGTGAACTGACCACAGAATTTTTCCATCTTTATTTTTCTTACTTGTTTACTTTTTTTAATGTCAGAACCATTTGTATCATGCGCAGGAATGTCTCCCTCAATGTGAGCTTTGGAGGCAAAACATATTTTTGGAGTGAGTTATTGACCACATTGTTTCCCTCTCTTTGGGTTGTTTATTTTCTTCCAGAATGGTGTAATAACTTTAATTAAGATTAGCTTTAATTATAAATTACCTAAAGGCCATCACTAAGGTATATTCATCTTATTGATAGAATTATAGTCAGCTTTGTTTCTCTTAAGCAGGGATAGTGATAATGAAGTGCTGGGTTGGTTACAGTTCCACTGTGTGTTAACCAAAATTTGCTGTGCTAGAGCTAGACTTTGGTCTGAATTGGCAGAGGTAGAACCCATGTTGCATGTTTATCCTAAATCTGTAGGAATTTCCCAAACCTTGTTTTTCAAAGTTGAGAAGTAGAAAGTAATAAATTCAATCAGGGCCCAGACATGTTTTGTACCCCCTTTACCCTTTGGTCTTTCTTCCTTTTATCCTATTCCACTGAGCTTGTTCTTTGGGGATTGTGGTGCCTGACATCACTGTCTTTCCTCCCCTAGGACACTGACTTGAGTGGAGAGACCTCGGCAATTCAAGGCTGTCCTGCAGCTCTCTGTTGCCTCAGCAATGTCAGGACGACTGTCTCTTTCCTAAGTAACATAATTTTAAAGAACAATTTGTTCCTCAGGGAATAATGTCTTGGATTGTGGGGAATCCTATTAAAAGTACAACTATTGCAGTCATTTGCTTTTACTTTTACCAGCCTCACTCATAAACCCTCCATCTGTTTGTTGCTTTAAATAGAAGCACATTATAAGAGATTATCACTTGATCAGGCTGCATGTCTGAGTGTTGTGTGTTTTCACATACTCATGTATACTAAGGAATAAAAGAAAGCAAACCACA)$ MVKLANPLYTEWILEAIQKIKKQKQRPSEERICHAVSTSHGLDKKTVSEQLELSVQDGSVLKVTNKGLASYKDPDNPGRFSSVKPGTFPKSAKGSRGSCNDLRNVDWNKLLRRAIEGLEEPNGSSLKNIEKYLRSQSDLTSTTNNPAFQQRLRLGAKRAVNNGRLLKDGPQYRVNYGSLDGKGAPQYPSAFPSSLPPVSLLPHEKDQ|rfqyndeqkRSLEGLSAFRSLEELILDNNQLvDDLVLPGLPRLHTLTLNKNRITDLENLLDHLAEVTPALEYLSLLGNVACPNELVSLEKDEEDYKRYRCFVLYKLPNLKFLDAQKVTRQEREEALVRGVFMKVVKPKASSEDVASSPERHYTPLPSASRELTSHQGVLGKCRYVYYGKNSEGNRFIRDDQL* 11BR017 ENSG00000088387.19 ENSG00000152767.17 -/- +/- chr13:98831696 chr13:98386825 CDS intron deletion/5'-5' 14 16 1 69 34 medium out-of-frame . C2_domain_in_Dock180_and_Zizimin_proteins(100%),Domain_of_unknown_function_(DUF3398)(100%),PH_domain(100%)| . . ENSG00000088387.19 ENSG00000152767.17 ENST00000652315.1 . upstream downstream duplicates(3) ^(GCGGCCGGGCCGGGCCGCGGGAGCAGGCGGAGGCGGAGGCGGCGGGGGCAGGAGGATGTCGCAGCCGCCGCTGCTCCCCGCCTCGGCGGAGACTCGGAAGTTCACCCGGGCGCTGAGTAAGCCGGGCACGGCGGCCGAGCTGCGGCAGAGCGTGTCTGAGGTGGTGCGCGGCTCCGTGCTCCTG___GCAAAGCCAAAGCTAATTGAGCCACTCGACTATGAAAATGTCATCGTCCAGAAGAAGACTCAGATCCTGAACGACTGTTTACGGGAGATGCTGCTCTTCCCTTACGATGACTTTCAG___ACGGCCATCCTGAGACGACAGGGTCGATACATATGCTCAACAGTGCCTGCGAAGGCGGAAGAGGAAGCACAGAGCTTGTTTGTTACAGAG___TGCATCAAAACCTATAACTCTGACTGGCATCTTGTGAACTATAAATATGAAGATTACTCAGGAGAGTTTCGACAGCTTCCGAA___CAAAGTGGTCAAGTTGGATAAACTTCCAGTTCATGTCTATGAAGTTGACGAGGAGGTCGACAAAGATGAG___GATGCTGCCTCCCTTGGTTCCCAGAAGGGTGGGATCACCAAGCATGGCTGGCTGTACAAAGGCAACATGAACAGTGCCATCAGCGTGACCATGAGG___TCATTTAAGAGACGATTTTTCCACCTGATTCAACTTGGCGATGGATCCTATAATTTGAATTTTTATAAAGATGAAAAGATCTCCAAAGAACCAAAAGGATCAATATTTCTGGATTCCTGTATGGGTGTCGTTCAG___AACAACAAAGTCAGGCGTTTTGCTTTTGAGCTCAAGATGCAGGACAAAAGTAGTTATCTCTTGGCAGCAGACAGTGAAGTGGAAATGGAAGAATGGATCACAATTCTAAATAAGATCCTCCAGCTCAACTTTGAAGCTGCAATGCAAGAAAAGCGAAATGGCGACTCTCACGAAG___ATGATGAACAAAGCAAATTGGAAGGTTCTGGTTCCGGTTTAGATAGCTACCTGCCGGAACTTGCCAAG___AGTGCAAGAGAAGCAGAAATCAAACTGAAAAGTGAAAGCAGAGTCAAACTTTTTTATTTGGACCCAGATGCCCAG___AAGCTTGACTTCTCATCAGCTGAGCCAGAAGTGAAGTCATTTGAAGAGAAGTTTGGAAAAAGGATCCTTGTCAAGTGCAATGATTTATCTTTCAATTTGCAATGCTGTGTTGCCGAAAATGAAGAAGGACCCACTACAAAT___GTTGAACCTTTCTTTGTTACTCTATCCCTGTTTGACATAAAATACAACCGGAAGATTTCTGCCGATTTCCACGTAGACCTGAACCATTTCTCAGTGAGGCAAATGCTCGCCACCACGTCCCCGGCGCTGATGAATGGCAGTGGGCAGAGCCCATCTGTCCTCAAGGGCATCCTTCATGAAGCCGCCATGCAGTATCCGAAGCAG___GGAATATTTTCAGTCACTTGTCCTCATCCAGATATATTTCTTGTGGCCAGAATTGAAAAAGTCCTTCAGGGGAGCATCACACATTGCGCTGAGCCATATATGAAAAGTTCAGACTCTTCTAAG___GTGGCCCAGAAGGTGCTGAAGAATGCCAAGCAGGCATGCCAAAGACTAGGACAGTATAGAATGCCATTTGCTTGGGCAGCAAG___GACATTGTTTAAGGATGCATCTGGAAATCTTGACAAAAATGCCAGATTTTCTGCCATCTACAGGCAAGACAGCAATAAGCTATCCAATGATGACATGCTCAAGTTACTTGCAGACTTTCGGAA___ACCTGAGAAGATGGCTAAGCTCCCAGTGATTTTAGGCAATCTAGACATTACAATTGATAATGTTTCCTCAGACTTCCCTA___ATTATGTTAATTCATCATACATTCCCACAAAACAATTTGAAACCTGCAGTAAAACTCCCATCACGTTTGAAGTGGAGGAATTTGTGCCCTGCATACCAAAACACACTCAGCCTTACACCATCTACACCAATCACCTTTACGTTTATCCTAAGTACTTGAAATACGACAGTCAGAAGTCTTTTGCCAAG___GCTAGAAATATTGCGATTTGCATTGAATTCAAAGATTCAGATGAGGAAGACTCTCAGCCCCTTAAG___TGCATTTATGGCAGACCTGGTGGGCCAGTTTTCACAAGAAGCGCCTTTGCTGCAGTTTTACACCATCACCAAAACCCAGAATTTTATGATGAG___ATTAAAATAGAGTTGCCCACTCAGCTGCATGAAAAGCACCACCTGTTGCTCACATTCTTCCATGTCAGCTGTGACAACTCAAGTAAAGGAAGCACGAAGAAGAGGGATGTCGTTGAAACCCAAG___TTGGCTACTCCTGGCTTCCCCTCCTGAAAGACGGAAGGGTGGTGACAAGCGAGCAGCACATCCCGGTCTCGGCGAACCTTCCTTCGGGCTATCTTGGCTACCAGGAGCTTGGGATGGGCAGG___CATTATGGTCCGGAAATTAAATGGGTAGATGGAGGCAAGCCACTGCTGAAAATTTCCACTCATCTGGTTTCTACAGTGTATACTCAG___GATCAGCATTTACATAATTTTTTCCAGTACTGTCAGAAAACCGAATCTGGAGCCCAAGCCTTAGGAAACGAACTTGTAAAGTACCTTAAG___AGTCTGCATGCGATGGAAGGCCACGTGATGATCGCCTTCTTGCCCACTATCCTAAACCAGCTGTTCCGAGTCCTCACCAGAGCCACACAGGAAGAAGTCGCGGTTAACGTGACTCG___GGTCATTATTCATGTGGTTGCCCAGTGCCATGAGGAAGGATTGGAGAGCCACTTGAGGTCATATGTTAAG___TACGCGTATAAGGCTGAGCCATATGTTGCCTCTGAATACAAGACAGTGCATGAAGAACTGACCAAATCCATGACCACGATTCTCAAGCCTTCTGCCGATTTCCTCACCAGCAACAAACTACTGAAG___TACTCATGGTTTTTCTTTGATGTACTGATCAAATCTATGGCTCAGCATTTGATAGAGAACTCCAAAGTTAAG___TTGCTGCGAAACCAGAGATTTCCTGCATCCTATCATCATGCAGTGGAAACCGTTGTAAATATGCTGATGCCACACATCACTCAGAAGTTTCGAGATAATCCAGAGGCATCTAAGAACGCGAATCATAGCCTTGCTGTCTTCATCAAG___AGATGTTTCACCTTCATGGACAGGGGCTTTGTCTTCAAGCAGATCAACAACTACATTAGCTGTTTTGCTCCTGGAGACCCAAAG___ACCCTCTTTGAATACAAGTTTGAATTTCTCCGTGTAGTGTGCAACCATGAACATTATATTCCGTTGAACTTACCAATGCCATTTGGAAAAGGCAGGATTCAAAGATACCAAG___ACCTCCAGCTTGACTACTCATTAACAGATGAGTTCTGCAGAAACCACTTCTTGGTGGGACTGTTACTGAGGGAGGTGGGGACAGCCCTCCAGGAGTTCCGGGAGGTCCGTCTGATCGCCATCAGTGTGCTCAAGAACCTGCTGATAAAGCATTCTTTTGATGACAGATATGCTTCAAGG___AGCCATCAGGCAAGGATAGCCACCCTCTACCTGCCTCTGTTTGGTCTGCTGATTGAAAACGTCCAGCGGATCAATGTGAGGGATGTGTCACCCTTCCCTGTGAACGCGGGCATG___ACTGTGAAGGATGAATCCCTGGCTCTACCAGCTGTGAATCCGCTGGTGACGCCGCAGAAGGGAAGCACCCTGGACAACAGCCTGCACAAGGACCTGCTGGGCGCCATCTCCGGCATTG___CTTCTCCATATACAACCTCAACTCCAAACATCAACAGTGTGAGAAATGCTGATTCGAGAGGATCTCTCATAAGCACAGATTCGGGTAACAGCCTTCCAGAAAGGAATAGTGAGAAGAGCAATTCCCTGGATAAG___CACCAACAAAGTAGCACATTGGGAAATTCCGTGGTTCGCTGTGATAAACTTGACCAGTCTGAGATTAAGAGCCTACTGATGTGTTTCCTCTACATCTTAAAGAGCATGTCTGATG___ATGCTTTGTTTACATATTGGAACAAGGCTTCAACATCTGAACTTATGGATTTTTTTACAATATCTGA___AGTCTGCCTGCACCAGTTCCAGTACATGGGGAAGCGATACATAGCCAG___AACAGGAATGATGCATGCCAGATTGCAGCAGCTGGGCAGCCTGGATAACTCTCTCACTTTTAACCACA___GCTATGGCCACTCGGACGCAGATGTTCTGCACCAGTCATTACTTGAAGCCAACATTGCTACTGAGGTTTGCCTGACAGCTCTGGACACGCTTTCTCTATTTACATTGGCGTTTAAG___)AACCAGCTCCTGGCCGACCATGGACATAATCCTCTCATGAAAAAAGTTTTTGATGTCTACCTGTGTTTTCTTCAAAAACATCAGTCTGAAA|TCACTGGAACTCTTTTGATAAAAGATAAGGGGGAAATATAAGCAAACCTG-AAGAGCTCAATAAAGGGTTTTAGGTCCTGAACATATTTACAACTTCCTAACTGGGTGAAATCTGATCCTATTTCATGAGAAAGGCaGGTGCTTTCTCTATATCCCTTTGAAACTAAAAGCACAGGTTACCCACTTGTGTTGAAAAGGAATGTACTGAACAGCCTTTTGGGGGTGATGAATACGTTCATTCTGTTGGTTTTGTGGGGAATTTTACAG MSQPPLLPASAETRKFTRALSKPGTAAELRQSVSEVVRGSVLLAKPKLIEPLDYENVIVQKKTQILNDCLREMLLFPYDDFQTAILRRQGRYICSTVPAKAEEEAQSLFVTECIKTYNSDWHLVNYKYEDYSGEFRQLPNKVVKLDKLPVHVYEVDEEVDKDEDAASLGSQKGGITKHGWLYKGNMNSAISVTMRSFKRRFFHLIQLGDGSYNLNFYKDEKISKEPKGSIFLDSCMGVVQNNKVRRFAFELKMQDKSSYLLAADSEVEMEEWITILNKILQLNFEAAMQEKRNGDSHEDDEQSKLEGSGSGLDSYLPELAKSAREAEIKLKSESRVKLFYLDPDAQKLDFSSAEPEVKSFEEKFGKRILVKCNDLSFNLQCCVAENEEGPTTNVEPFFVTLSLFDIKYNRKISADFHVDLNHFSVRQMLATTSPALMNGSGQSPSVLKGILHEAAMQYPKQGIFSVTCPHPDIFLVARIEKVLQGSITHCAEPYMKSSDSSKVAQKVLKNAKQACQRLGQYRMPFAWAARTLFKDASGNLDKNARFSAIYRQDSNKLSNDDMLKLLADFRKPEKMAKLPVILGNLDITIDNVSSDFPNYVNSSYIPTKQFETCSKTPITFEVEEFVPCIPKHTQPYTIYTNHLYVYPKYLKYDSQKSFAKARNIAICIEFKDSDEEDSQPLKCIYGRPGGPVFTRSAFAAVLHHHQNPEFYDEIKIELPTQLHEKHHLLLTFFHVSCDNSSKGSTKKRDVVETQVGYSWLPLLKDGRVVTSEQHIPVSANLPSGYLGYQELGMGRHYGPEIKWVDGGKPLLKISTHLVSTVYTQDQHLHNFFQYCQKTESGAQALGNELVKYLKSLHAMEGHVMIAFLPTILNQLFRVLTRATQEEVAVNVTRVIIHVVAQCHEEGLESHLRSYVKYAYKAEPYVASEYKTVHEELTKSMTTILKPSADFLTSNKLLKYSWFFFDVLIKSMAQHLIENSKVKLLRNQRFPASYHHAVETVVNMLMPHITQKFRDNPEASKNANHSLAVFIKRCFTFMDRGFVFKQINNYISCFAPGDPKTLFEYKFEFLRVVCNHEHYIPLNLPMPFGKGRIQRYQDLQLDYSLTDEFCRNHFLVGLLLREVGTALQEFREVRLIAISVLKNLLIKHSFDDRYASRSHQARIATLYLPLFGLLIENVQRINVRDVSPFPVNAGMTVKDESLALPAVNPLVTPQKGSTLDNSLHKDLLGAISGIASPYTTSTPNINSVRNADSRGSLISTDSGNSLPERNSEKSNSLDKHQQSSTLGNSVVRCDKLDQSEIKSLLMCFLYILKSMSDDALFTYWNKASTSELMDFFTISEVCLHQFQYMGKRYIARTGMMHARLQQLGSLDNSLTFNHSYGHSDADVLHQSLLEANIATEVCLTALDTLSLFTLAFKNQLLADHGHNPLMKKVFDVYLCFLQKHQSE|itgtllikdkgei* 11BR017 ENSG00000260678.1(8061),ENSG00000261680.1(545) ENSG00000156853.13 ./- -/- chr16:30623740 chr16:30609638 intergenic CDS/splice-site deletion/read-through 7 8 0 220 224 medium . . |KRAB_box(100%),Zinc_finger__C2H2_type(100%) . . . ENSG00000156853.13 . ENST00000287461.8 upstream downstream . CTTCCTTAAAACAGATCCTTTTGTCTTTGTCTTCATTTCTGCGTTTGTCCTCCTTCATTCAGTCCCAAACCAACAGCCACAAGTGGTGCCTAATCAGGGACGTGAAGGAAGAAGATCTGCTGGAGCAGAGAAACTGAAACTGACCAGATGAGTGAGAAACCCCAGGACAAATCTGCTGGCAGAGGATATAAG|GGTGCGCAGGTCCCAAACCAGCCCTCATCTCCTGGTTGGAACGAAACACCGATGACTGGGAACCGGCTGCTCTAGATCCGCAGGAGTACCCGAGAGGGCTAACAGTCCAGAGAA___AAAGCAGAACCAGAAAGAAGAATGGGG(AGAAGGAAGTATTCCCGCCTAAGGAGGCACCCCGAAAGGGGAAGCGAGGCCGGAGGCCCAGCAAACCCCGACTGATTCCTAGGCAGACGTCCGGGGGCCCCATCTGCCCTGACTGCGGCTGTACCTTCCCTGATCATCAGGCCCTGGAGAGCCACAAGTGCGCCCAGAATCTAAAAAAGCCTTACCCTTGCCCAGACTGTGGGCGCCGCTTTTCCTATCCATCCCTGCTGGTCAGTCACCGGCGGGCACACTCCGGCGAGTGCCCCTATGTTTGTGACCAGTGTGGCAAACGTTTCTCCCAGCGCAAGAACCTCTCCCAGCACCAGGTCATCCATACAGGGGAGAAGCCCTATCACTGCCCTGACTGTGGTCGCTGCTTCCGGAGGAGCCGGTCCTTGGCCAATCACCGGACCACACACACAGGTGAAAAACCCCACCAGTGCCCTAGCTGTGGACGTCGCTTCGCCTACCCCTCCCTGCTAGCCATCCACCAGCGTACACACACGGGAGAGAAGCCCTACACTTGCCTCGAGTGCAACCGCCGCTTCCGCCAGCGCACGGCCCTCGTCATCCACCAGCGCATCCACACGGGCGAGAAGCCCTACCCGTGCCCGGACTGCGAGCGGCGCTTCTCCTCCTCCTCTCGCCTGGTCAGTCACCGGCGTGTGCACTCTGGGGAGCGTCCCTATGCCTGCGAGCACTGTGAGGCCCGCTTCTCCCAGCGCAGCACGCTGCTCCAGCACCAGCTCTTGCACACCGGAGAGAAGCCCTACCCCTGCCCAGACTGTGGGCGTGCCTTCCGGCGGAGCGGCTCCCTGGCCATCCATCGCAGCACGCACACAGAGGAGAAGCTGCACGCCTGCGACGACTGTGGTCGCCGCTTTGCCTACCCCTCACTGCTGGCCAGCCACCGGCGCGTGCACTCGGGCGAGCGGCCCTATGCCTGCGACCTTTGCTCCAAGCGTTTTGCTCAGTGGAGCCACCTGGCCCAGCACCAGCTGCTGCACACGGGGGAGAAGCCTTTCCCCTGCCTCGAGTGTGGCCGGTGCTTCCGCCAGAGGTGGTCTCTGGCTGTCCACAAGTGTAGCCCCAAGGCCCCAAACTGTAGCCCTAGATCTGCTATCGGGGGCTCCAGTCAGAGGGGCAACGCCCATTAGAAGGGGAAGGACTGCCTACGTTCATTTCATTTTATGGAGGGTCCCAGAAAAGGGAAGGAGGAGCCCCAGGTCATACAGGGCAGAGTCAGAACTAAACCCGGGTCTCCTGCTGCACAGAGCTGAACTTTGTATCTTGCAATGCGCTGGCTGCCTCCCTGTGCGTGTCTGGAACAGTCCCATTAGGAGAGGTGACGTCATTTGCTTAAAGTTTTCCAAGCTACCCTATCCTAAAATAGTTTGTGTGGATATCAGGGCTAAAAGTTCTCCCCATCTATTTTAGGGGCTGTCTGCTTTTCTAGTCTGTCCACACAGGGATTACCTGTCATCTTGCATGCAATCAGGAGAATCTCATAGGGGCAGGACCTTCCCCTACTCTGCCTCTTCCTCCATACTAGGTTGGAAAAATCTGGTTTAGCCCACTTTTTGCAACACTCCTGCCAAGTGGTCTTCTACCCATTGCTTGAAAATCTCTCTTGACAGGGAGCTCACTACCTCACAAGGCAGGTCATTTCATTGTGGGATCTATAGAAGGTTAAGTACCACATTCTCCTCTAAACCTTGCCTACGACATGTTTAATACTTCATCTACATAGCAGCCCTTCAGATAATCACAACCACTTTGCCCCCAAGTTTTCAGGTTAAGTAGCATGAATTTGGTCATTCCTTAAAGACAGGGTTTCAATTTCCACACATGATCTCTGCAAACAGGCACTGGGTTTTCAGTGTCCTTTTTGAAGGGTCATATAAAAATAAGGTAACACCACAGTGCCACTACACCTTCTGGGGCTGGACTTGTTTCAGCAGCTTTGGTTGCACTGAATTTGGGGGAGCTGCATGGTACCAGGGGTTTATTGGGTTGCAGATATATAAATGCCCTAAACTTAAAAAAAAAAAAAAAAGCTATAAAACTAAGTCTTCATCTTGTATTTGGAAAATTGGTTCAAGCTGGGTATGAGACATAAGTGTAGTCAGCTCTGGGAGAAGGTTGCTCTTAAGGAGAAGCAGGGACCTGTGGTTTAGCAGCAGGAAGTGCAAATGGGACTGGCTTGTGCTCTACCTGGCAGACCTGGATTGGCTTCAGGCAGCCAGTGCCTGGAAAAGCCTGGAGAATTGGGCCGTACTTGACCCTGATTCTCATCAGGCACAGATGAATCACAGGCACCTAAGAATCGGCACAGAACTTCCATGAGGCCTCAGTCAGCATTTTTTCACAAAATGAGCTGAGGCCATTCAAGGAGGCTAGAAAGAGGGAACTGAATCCAGAGAGGAAGAGTCTATAGTCATCAAGTTGTATCCATGCCAGCCTCCCTCCACAGAGGTGGCAGCAGCGTGGCTCAATCTGATCCACCTCCATGGCACCCACTGGGTAGGTGCTTCATAAAGCTTTACCGAGTTAAATGTGAACAAGGCCTACCACTTTGCCTTGGGCAGCTGCACCAAATTAGAATTTCCAGATGTGACTCATCTCATATTCCAACAGCTGGAGTGGGTCATCCTTTACCCCTGTGGCTCCTTCCTACAGCTCTCCTGATCTCAGCACAAGCAGGGGAGCAGCTGGGGGAACACAGCTTTATGTAATTACCTCTGTTCAATATTTAGCAAGTTGCATTGTAACATTGTAACTGTTTGTTTCTCCTTGGATGATGAGCTACCCCCAAGAAGGGGTCATATCAGATTGGGTCTCATTAAAATGTCTGATGAATGAA)$ . 11BR017 ENSG00000125304.10 ENSG00000233211.2(83662),ENSG00000288552.1(79353) +/+ ./+ chr13:99546487 chr13:89062447 intron intergenic duplication 5 5 3 13 9 medium . . . . . ENSG00000125304.10 . . . downstream upstream duplicates(1) GTGCTTGGTCATGCACGTTTTAGGGGAAACAATAGGGGGGGAAACAATGGGGATTTTCTTGCTGAGCCTCCTGAAACTCAGTTCTCAGCAGTATCCTACTCACCTTGGGATTCTGAGCACCTTATAACTTCTGAGCCCCAGCTTAAAGCT...TAGCATTTTAATTCTCATTAGTAGGAAGGCTTACATAGGGAAGAGCAAACAAAGCTAACCACGTGAATAAGGTAGGGCCAGGGTTTCCCCGTATTGCTGACAAGGTCCTTCaGTAATTTGTGAAAAGCTAATGGCC|ATGTGGTTAATCCCTAGATCTTAAACTCAGTTTATTTGCATTTCCTTGTGGCTAATCGAGATCATAATTATATTAAATGTGTCAAAGGAAACCCTGTGACTTTCCCATTTGGTTTTAATCATTTGTAACCATTTAGTCGTTTCTGCTACATGTTATATTCAACAGTAC . 11BR017 ENSG00000186106.11 ENSG00000176571.12 -/- +/- chr8:100559711 chr8:86926437 5'UTR/splice-site intron deletion/5'-5' 0 3 0 9 16 medium . . . . . ENSG00000186106.11 ENSG00000176571.12 ENST00000519597.5 . upstream downstream . ^(GTCTGGCCCCTCCCCTCCGCCCGTCACCGCCTCCTTGAA)GCTGCCGCTGTCGCTGCTGCTCGTTCGAGTCGCAG|GATCAAGGCCATCAAaCTACAGATGGTCTTACAACTGGAACCCCAAATGAGCTCAACTCAAAACTTCTACTGAGGACACCTGGACCGACCCACTGGCCCTTTGACTGGTCTAAAGAGTTCCCCTCTGGAGGACACTACAACTGCAGGGCCCCTTCTTCACCCCTATCCAGCAGGAAGTAGCTAGAGCAGTCATTGCCCAGTTCTCAACAGCAGTTGAGAGGGGAGATTGAGAGGTGAGGCCAG . 11BR017 ENSG00000125304.10 ENSG00000233211.2(108591),ENSG00000288552.1(54424) +/+ ./+ chr13:99543995 chr13:89087376 CDS/splice-site intergenic duplication 0 3 0 543 21 medium out-of-frame . . . . ENSG00000125304.10 . ENST00000642475.1 . downstream upstream . ^(AGCCTCTCCCCTTTCTTAGGCGCATCCTTGGCTGTAAAAGGAGGTTAAAAGCCCCTGGAAAACCTCAGGTTTATTTCAGCTCTGAAAGTCCGGTTCCAAATTTAGATCCAGCACTCTTGTGGCCTGGCCAGTGATGGTCGTGGAGTGCTTTCCCCGCGCCTGCGGTCTCTAGGCTCTGTGGATGTAGAGGTGTGGGATGTAGGAGCAGGCCCTTACCCGTGGAATTCACATATAAATGGGGGAATGAGACAGCAAACAAACAAACGTGATCCTTCCTGATAGTGGTAAATGTGGGATGCCGAGGTTTAAGCAGACGAGTGGTATTAAGGGATTTCAAGGTTTTATAAAATTGATTTTGCCAAGAGTGGAAGCTGAGAGGCTACTGCAGTAAGAAGTCCAGGGGAACTAAGAATTTGGCTTGGACCAGAGTGGTAGCTGTGGGCATGGAAAGTACTGAAAGGATTTAGCCCATAGTTTAGCAGCCCAACCAACGGGACCTGCTGAAGGACTGGAG___ATCACTAAAAAGCTTCTCCTTGAAAAATACTCAGAAGATGCAACACACACACACACACACGTGTGTGCACTTACACACGCGGACACCGTCTCACATCATCAGTGGGAAAAGTGATAGAATCTTGCTAAAGGCTGATCATACCATATTAATCCGATTCGCCAGAACTACTTTCTTCACTGAGCTCTCAG___CCTGCTCCCAACCAGGTGTCTCCAGAACTTTTTCTCTCCGCCACCAACTCCGCCTCCAGACAGACCGCAGGTGCTTTCTGTCATAGGGACTGGCGTGCCGCGGACAGTGTGACAAAGAAACTGTATGATGGATATGAGAACTTCGTAAGACCCAGCAGCAAACGGGGAGCGGCTGGCGAGCGCTCCACAGCCCCCAAGCGTGGGAGCTCTAGATCGGAATTTGTAATTTGGAATTGGAACGTGAGCGCCGGAACAGCTCTCCCAGCAACCACCTCTCCCAGCAACCACCTCAGCTGGCGCGCGGAAAACCCGGAAAGTGGATTTCGCCCCCGCTCCCTCCCGGAAACTCCTCCTGGTGCCTGCGACCGTTCTCACTGAGCATGTGCAGACGGCGGTGCGCATGCTCTGTTGCGGTCCGCTTCGGTTTCTGTTGCGGGACCCGGGGTGTCTCCTAGCGCAACCGGAACTAGCCTTCTGGGGGCCGGCTTCCTTTATCTCTGGCGGCCTTGTAGTCGTCTCCGAGACTCCCCACCCCTCCTTCCCTCTTGACCCCCTAGGTTTGATTGCCCTTTCCCCGAAACAACTATCATGAGCGCGAGGCTGCCGGTGTTGTCTCCACCTCGGTGGCCGCGGCTGTTGCTGCTGTCGCTGCTCCTGCTGGGGGCGGTTCCTGGCCCGCGCCGGAGCGGCGCTTTCTACCTGCCCGGCCTGGCGCCCGTCAACTTCTGCGACGAAGAAAAAAAGAGCGACGAGTGCAAG___GCCGAAATAGAACTATTTGTGAACAGACTTGATTCAGTGGAATCAGTTCTTCCTTATGAATACACAGC___GTTTGATTTTTGCCAAGCATCAGAAGGAAAGCGCCCATCTGAAAATCTTGGTCAGGTACTATTCGGGGAAAGAATTGAACCTTCACCATATAAG___TTTACGTTTAATAAGAAGGAGACCTGTAAGCTTGTTTGTACAAAAACATACCATACAGAGAAAGCTGAAGACAAACAAAAGTTAGAATTCTTGAAAAAAAGCATGTTATTGAATTATCAACATCACTG___GATTGTGGATAATATGCCTGTAACGTGGTGTTACGATGTTGAAGATGGTCAGAGGTTCTGTAATCCTGGATTTCCTATTGGCTGTTACATTACAGATAAAGGCCATGCAAAAGATGCCTGTGTTATTAGT___TCAGATTTCCATGAAAGAGATACATTTTACATCTTCAACCATGTTGACATCAAAATATACTATCATGTTGTTGAAACTGGGTCCATGGGAGCAAGATTAGTGGCTGCTAAACTTGAACCGAAAAG___CTTCAAACATACCCATATAGATAAACCAGACTGCTCAGGGCCCCCCATGGACATAAGTAACAAGGCTTCTGGGGAGATAAAAATTGCCTATACTTACTCTGTTAGCTTCGAG___GAAGATGATAAGATCAGATGGGCGTCTAGATGGGACTATATTCTGGAGTCTATGCCTCATACCCACATTCAGTGGTTTAG___CATTATGAATTCCCTGGTCATTGTTCTCTTCTTATCTGGAATGGTAGCTATGATTATGTTACGGACACTGCACAAAGATATTGCTAGATATAATCAGATGGACTCTACG___GAAGATGCCCAGGAAGAATTTGGCTGGAAACTTGTTCATGGTGATATATTCCGTCCTCCAAGAAAAGGGA)TGCTGCTATCAGTCTTTCTAGGATCCGGGACACAGATTTTAATTATGACCTTTGTGACTCTAT|CCAGAATGATGGTGGTGACTTGTACAAAGAAATGTTAGAGAAAGAGCCACTGTAAAGACAACATTG___AAGGAGTGTTAAGTCTGATATTGAAGAATCCAGTTTATCCAGGTCAGTGAAATCCAGAATGTTCTGTCTGGCATCATTAATTGTGGAGCTGAA MSARLPVLSPPRWPRLLLLSLLLLGAVPGPRRSGAFYLPGLAPVNFCDEEKKSDECKAEIELFVNRLDSVESVLPYEYTAFDFCQASEGKRPSENLGQVLFGERIEPSPYKFTFNKKETCKLVCTKTYHTEKAEDKQKLEFLKKSMLLNYQHHWIVDNMPVTWCYDVEDGQRFCNPGFPIGCYITDKGHAKDACVISSDFHERDTFYIFNHVDIKIYYHVVETGSMGARLVAAKLEPKSFKHTHIDKPDCSGPPMDISNKASGEIKIAYTYSVSFEEDDKIRWASRWDYILESMPHTHIQWFSIMNSLVIVLFLSGMVAMIMLRTLHKDIARYNQMDSTEDAQEEFGWKLVHGDIFRPPRKGMLLSVFLGSGTQILIMTFVTL|srmmvvtctkkc* 11BR017 ENSG00000054611.14 ENSG00000155980.12 +/+ +/- chr22:46794588 chr12:57561989 intron intron translocation/5'-5' 1 1 0 9 13 medium out-of-frame . . . . ENSG00000054611.14 ENSG00000155980.12 ENST00000380995.5 . downstream downstream . ^(GGGCGCGCGTAGGCACAACTTCCGGAAGGAGGCGGAAGAGCTTCTCGGCTCTAGGCTCTGGAGTCCCGGGAGCAGTGAGGGGCCACCCGGGGCACAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGGCCGCGGGTCTGAGGGATGAGGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAGCGCAGCAACAGCAAGCTCCCGGGCAG___CATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCACTGTTACATGGCAC___GCATTCCTCAGGGAGGAGACTGGTTTCTCATTCAGCCACACTGATCAAGCAGTCGCTTTGTGTGAGATACTGTGCACCCCGTGCTGCGCATCCCGGTGAAGACGGCGGATGTGGGAGCCACAGCCTGATGTGGGGAG___TTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGCCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAG)GGCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTGGTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAG___GCCATCACGTCTGTGATGGAAAAGCTGCATGGTTGTGCGATGAACCCACTGTGGGCCGCGGGTACTGTTTTCAGAGCTTGGGAGACCCCACTGGACAGACTGAG|AGTCCATCTTTATCCAATCGAAATGTAAACCTCAAGATCTACAGACGCCAGAGTTTGCAGAGTTTGGGAGATATGTTTTAACTAATTAAGGAAAGTTGTAAACCTTGGCTAGAGC MWEPQPDVGSLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAghhvcdgkaawlcdeptvgrgycfqslgdptgqte|spslsnrnvnlkiyrrqslqslgdmf* 11BR017 ENSG00000178229.8 ENSG00000104327.7 +/+ -/- chr19:57326728 chr8:90082102 CDS/splice-site CDS/splice-site translocation 2 0 0 8 0 medium in-frame . KRAB_box(100%)|EF-hand_domain(100%),EF-hand_domain_pair(100%),EF_hand(100%) . . ENSG00000178229.8 ENSG00000104327.7 ENST00000321545.5 ENST00000265431.7 downstream downstream . ^(GTCGCGTGACGTCATCTCCGTGAGCAGGATTGGCCCTGGAACAGTGTGGGGCCTGGACCGCTGGGTAGGCGCGTCCAGCGGCCTGAGCAGGGGAGGGTAATGAGGCTGTTACGCGCCTTCTCCGCATCTTGGCGGGAGCCTGACGCCCCGCTTCTTCCCTAACGGGGTGTTCCACCGGCGCCTGCCGAGGCCTAGGCCTCCGCAGCCGCCCTCCGTCTCCTCAGCCCCGACGCTGCGCCCGCTTTGTGCGCATTTTTCTCTGGGGAAACTGAGGCTCCGAGTGCGAAAGTCAGCCGAGGTCGCCCCGCCCAGGACAGAGAAGGGCTGGGGGTCGGCTGAGCCGCGGCATTCCCGGGCCCCGCTAGGGCTGCAGGGTCTCAGGATGGCAGCCTCGGCGCAG___GTGTCTGTGACCTTTGAGGATGTGGCTGTGACATTCACCCAGGAGGAGTGGGGACAGTTGGATGCAGCCCAGAGAACCTTGTATCAGGAGGTGATGCTGGAGACCTGCGGACTTCTCATGTCTCTGG___GCTGTCCTTTGTTC)AAAgCAGAGCTGATCTACCAGTTGGATCACAGACAGGAGCTATGGATGGCTACAAAAGACCTCTCCCAAAGCTCCTATCCAG|GAAGTGGTTACCTGGAAGGAAAGGAGCTGCAGAACTTGATCCAGGAGCTCCAGCAGGC(GCGAAAGAAGGCTGGATTG___GAGTTATCACCTGAAATGAAAACTTTTGTGGATCAGTATGGGCAAAGAGATGATGGAAAAATAGGAATTGTAGAG___TTGGCTCACGTATTACCCACAGAAGAGAATTTCCTGCTGCTCTTCCGATGCCAGCAGCTGAAGTCCTGTGAGGAATTCATGAAG___ACATGGAGAAAATATGATACTGACCACAGTGGCTTCATAGAAACTGAGGAGCTTAAG___AACTTTCTAAAGGACCTGCTAGAAAAAGCAAACAAGACTGTTGATGACACAAAATTAGCCGAGTATACAGACCTAATG___CTGAAACTATTTGATTCAAATAATGATGGGAAGCTGGAATTAACTGAGATGGCCAG___GTTACTACCAGTGCAGGAGAATTTTCTTCTTAAATTCCAG___GGAATCAAAATGTGTGGGAAAGAGTTCAATAAGGCTTTTGAGCTGTATGATCAG___GACGGCAATGGATACATAGATGAAAATGAACTGGATGCTTTACTGAAGGATCTGTGCGAGAAGAATAAACAG___GATCTGGATATTAATAATATTACAACATACAAGAAGAACATAATGGCTTTGTCGGATGGAGGGAAGCTGTACCGAACGGATCTTGCTCTTATTCTCTGTGCTGGGGATAACTAGAGTTGGTGGCCGCAACCACTTGCTAGTGATACACTGTATCTAAAAAATAACTGTGCACTATAAGGGAGTAGGCTGTATTTTCTTTTATATCTGTAAATTTAACTGCATATAGATAATTATCCAGGATGTGTGGCTCATTCTTTTCAGCTTGTTTCTATACTGTTTGTAATATACAGTTTTTGTAACCATATGATTGAAAAGAAGAAAGTCTATGCTTAGGCCAGTCAGTACACCCAATTTTAAAAAATAACATATTCTTGCTTTCACAAATATAGTTGAACAAGATTTCCCTAAAAATTCCACCAGGATTAATCTCTAAAATTCTAGTCTCTGATTTGCAAATGCACATTTGTCACTGAATAATGGAATTATGTATAACAAGCCAAACATTCTTATTTTAGACAACCATAGAACTGTCCCACAAAATATTTCTAAGCTTATTTCTAACTATTAGGAGGAATGTGCTTTTCCATCTAAAATACTCACCAAAATATAGTTAATTGTGGCTTTATGAAGTTAACAGTCTCATTACAGATTTAGTTTACCAATCAACAGCATGTCTACTGCTTGGATCCATACAAAACTATCGGTTCAAGTTGATGTGACAAGGGAAGGGAGCACCAGATGACACATAAATCTGTCTGATTCTATGCCTGTATTTCCAACAAACTTACTGTCAGAGAATATGACCTAAATCCATTTTCTAAACTGTTTTCATGTGTTGCAAATTATTCTAGTCAACTGCTGTTTTATGTCATACTCTGTGTAATCTCTGATTAAATTTAATATACTGCATATCCTGGTGTCTAGTTTGCATACTTCCTGGATTTTCTTTCTATGTAGAACTGTTCATTTCCACCAAGGGTATCTGCTGCCTCTGAAAATATTTTTTTCTAGCTATAACAACTCTATTTTTTACTACATAATTAAATTTTAATGTAAAATTCATAGCATCCTGATTATTGAATGTTATATCATCAATACTTTTGTGTATTCTGTGGATTCTATATTTCATATTGAGATCAGCATTCAAAATAGTTCTATTTCTATCTGCAAATAGTTTCAAATGAGTTTAAAAAAATAACATCTGAAAAGAAATGCTAATGTAATCATTTATCTTATCTAGCAAGAAGATTCTAAAACATTCTTTAACATACATCTAAGTCAGTTTCACATATTTGTAGCTAGAATATCCTATACTGGTTATAGTTGATATGTAACAGTTGGTGATTTTAGATTTCTTTGATTGTGAAACAGGGAGCTATGAGAGATGTGTCCATGTGAAATTTACAGTTACTGCCTAGGAGTTAATGATCGTTCTGGGTCAGCTTGAATGTCCCCATTCTATAAATTCAACACTTATTTTCTGAATTCATAAAAATAACCAAAAAATGTGAGCTATAATGTTTCCCTCAAGAACAAACAGAAACGAGATTTGCCAAAAACTAAAATTCAACAAATGATGTTGAGTGGGAGATTGGCTTTGCCTTTAGCGTGTAAATGGAAGCACTGCCATTAGACTGAATTTAACTACTAAGAATAAATAAAGAAGAAAATAACCTTAA)$ MAASAQVSVTFEDVAVTFTQEEWGQLDAAQRTLYQEVMLETCGLLMSLGCPLFKaELIYQLDHRQELWMATKDLSQSSYP|gSGYLEGKELQNLIQELQQARKKAGLELSPEMKTFVDQYGQRDDGKIGIVELAHVLPTEENFLLLFRCQQLKSCEEFMKTWRKYDTDHSGFIETEELKNFLKDLLEKANKTVDDTKLAEYTDLMLKLFDSNNDGKLELTEMARLLPVQENFLLKFQGIKMCGKEFNKAFELYDQDGNGYIDENELDALLKDLCEKNKQDLDINNITTYKKNIMALSDGGKLYRTDLALILCAGDN* 11BR017 ENSG00000064115.11 ENSG00000123104.12 -/- -/+ chr12:26979784 chr12:26457505 CDS/splice-site intron inversion/5'-5' 0 2 0 81 17 medium out-of-frame . . . . ENSG00000064115.11 ENSG00000123104.12 ENST00000343028.9 . upstream upstream . ^(AGGTGCCGGAAGAGGAAACCTCTCGCTGGGGCTAGGAGTTCGGCGGGGCGCGCGCCGGCGGCTGCGGAGCTGGCAGGTGCGAAGCGTCTGCACCTGGCGGGCGATGGCGCCCGATGCGGGCGCCCCGGGATAGCGTGGGCGAGGCTGCGGGGCCCCGGCGCGCACGCCCGCACCTCTCCCCAGCCCTGGCGTGGGCCCAGCCCGGCCCAGGCAGCAATGGGGTTCCTGCAGCTGCTGGTCGTAGCGGTGCTGGCATCCGAACACCGGGTGGCTGGTGCAGCCGAGGTCTTCGGGAATTCCAGCGAGG___GTCTTATTGAATTTTCTGTGGGGAAATTTAGATACTTCGAGCTCAATAGGCCCTTTCCAGAGGAAGCTATTTTGCATGATATTTCAAGCAATGTGACTTTTCTTATTTTCCAAATACACTCACAGTATCAGAATACAACTGTTTCCTTTTCTCCG___ACTCTCCTTTCCAATTCCTCGGAAACAGGCACTGCCAGTGGACTGGTTTTCATCCTTAGACCAGAGCAGAGTACATGCACTTGGTACTTGGGGACTTCAGGCATACAGCCTGTCCAGAATATGGCTATCCTACTCTCCTACTCAGAAAGAG___ATCCTGTCCCTGGAGGCTGTAATTTGGAGTTCGATTTAGATATTGATCCCAACATTTACTTGGAGTATAATTTCTTTGAAACGACTATCAAGTTTGCCCCAGCAAACCTAGGCTATGCGAG___AGGCGTAGATCCCCCACCATGTGACGCTGGGACAGACCAGGACTCCAGGTGGAGGTTGCAGTATGATGTCTATCAGTATTTTCTGCCTGAGAATGACCTCACTGAGGAGATGTTGCTGAAGCATCTGCAGAGGATGGTCAGTGTGCCCCAGGTGAAGGCCAGTGCTCTCAAG___GTGGTTACCCTAACAGCTAATGATAAGACAAGTGTTTCCTTCTCCTCCCTCCCGGGACAAGGTGTCATATACAATGTCATTGTTTGGGACCCGTTTCTAAATACATCTGCTGCCTACATTCCTGCTCACACATACGCTTGCAGCTTTGAGGCAGGAGAGGGTAGTTGTGCTTCCCTAG___GAAGAGTGTCTTCCAAAGTGTTCTTCACTCTTTTTGCCCTGCTTGGTTTCTTCATTTGTTTCTTTGGACACAGATTCTGGAAAACAG___AATTATTCTTCATAGGCTTTATCATCATGGGATTCTTCTTTTATATACTGATTACAAGACTGACACCTATCAAGTATGATG___TGAATCTGATTCTGACAGCTGTCACTGGAAGCGTCGGT)GGAATGTTCTTGGTAGCTGTGTGGTGGCGATTTGGAATCCTCTCGATCTGCATGCTCTGTGTTGGACTAGTGCTGGGGTTCCTCATCTCGTCAGTGACTTTCTTTACTCCACTGG|GGTTCATTGTTGCTACTGTGTTAGAGAACACTCTACAGAACGCGTGGATGAACAGAAGCACGAAGAGTCAGAAGCCTACTGCAAATAATCCAG___CTTCCCTGTGGAAAGTGAATTGAAAAGGGACTTAACCAGAGATGGAGACAGGAGGCTACTGCAGCTGTCCAGGCACAAAATGAAGATGGCAGCAGGAAGAAACTGGCAGTATGAGTGGAGAGGAGTGAGCAGCTCTGCCAGGCTGTCCAGGTGAGGGCGGTACGGG MGFLQLLVVAVLASEHRVAGAAEVFGNSSEGLIEFSVGKFRYFELNRPFPEEAILHDISSNVTFLIFQIHSQYQNTTVSFSPTLLSNSSETGTASGLVFILRPEQSTCTWYLGTSGIQPVQNMAILLSYSERDPVPGGCNLEFDLDIDPNIYLEYNFFETTIKFAPANLGYARGVDPPPCDAGTDQDSRWRLQYDVYQYFLPENDLTEEMLLKHLQRMVSVPQVKASALKVVTLTANDKTSVSFSSLPGQGVIYNVIVWDPFLNTSAAYIPAHTYACSFEAGEGSCASLGRVSSKVFFTLFALLGFFICFFGHRFWKTELFFIGFIIMGFFFYILITRLTPIKYDVNLILTAVTGSVGGMFLVAVWWRFGILSICMLCVGLVLGFLISSVTFFTPL|gfivatvlentlqnawmnrstksqkptannpaslwkvn* 11BR018 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 7 0 24 26 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1) CGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGG(TCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR018 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 6 8 2 71 27 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCA)GTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR018 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 5 0 108 37 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAA)GAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR018 ENSG00000154447.15 ENSG00000168702.18 -/- -/+ chr4:169136318 chr2:141851259 CDS/splice-site intron translocation/5'-5' 1 2 0 15 9 high out-of-frame . SH3_domain(100%),Variant_SH3_domain(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%)| . . ENSG00000154447.15 ENSG00000168702.18 ENST00000284637.14 . upstream upstream . ^(AGAGACACTGCGAGCGGCGAGCGCGGTGGGGCCGCATCTGCATCAGCCGCCGCAGCCGCTGCGGGGCCGCGAACAAAGAGGAGGAGCCGAGGCGCGAG___AGCAAAGTCTGAAATGGATGTTACATGAGTCATTTTAAGGGATGCACACAACTATGAACATTTCTGAAGATTTTTTCTCAGTAAAGTAGATAAAGATGGATGAATCAGCCTTGTTGGATCTTTTGGAGTGTCCGGTGTGTCTAGAGCGCCTTGATGCTTCTGCGAAGGTCTTGCCTTGCCAGCATACGTTTTGCAAGCGATGTTTGCTGGGGATCGTAGGTTCTCGAAATGAACTCAGATGTCCCGAGTGCAGGACTCTTGTTGGCTCGGGTGTCGAGGAGCTTCCCAGTAACATCTTGCTGGTCAGACTTCTGGATGGCATCAAACAGAGGCCTTGGAAACCTGGTCCTGGTGGGGGAAGTGGGACCAACTGCACAAATGCATTAAGGTCTCAGAGCAGCACTGTGGCTAATTGTAGCTCAAAAGATCTGCAGAGCTCCCAGGGCGGACAGCAGCCTCGGGTGCAATCCTGGAGCCCCCCAGTGAGG___GGTATACCTCAGTTACCATGTGCCAAAGCATTATACAACTATGAAGGAAAAGAGCCTGGAGACCTTAAATTCAGCAAAGGTGACATCATCATTTTGCGAAGACAAGTGGATGAAAATTGGTACCATGGGGAAGTCAATGGAATCCATGGCTTTTTCCCCACCAACTTTGTGCAGATTATTAAACCGTTACCTCAGCCCCCACCTCAGTGCAAAGCACTTTATGACTTTGAAGTGAAAGACAAGGAAGCAGACAAAGATTGCCTTCCATTTGCAAAG___GATGATGTTCTGACTGTGATCCGAAGAGTGGATGAAAACTGGGCTGAAGGAATGCTGGCAGACAAAATAGGAATATTTCCAATTTCATATGTTGAG___TTTAACTCGGCTGCTAAGCAGCTGATAGAATGGGATAAGCCTCCTGTGCCAGGAGTTGATGCTGGAGAATGTTCCTCGGCAGCAGCCCAGAGCAGCACTGCCCCAAAGCACTCCGACACCAAGAAGAACACCAAAAAGCGGCACTCCTTCACTTCCCTCACTATGGC)CAACAAGTCCTCCCAGGCATCCCAGAACCGCCACTCCATGGAGATCAGCCCCCCTGTCCTCATCAGCTCCAGCAACCCCACTGCTGCTGCACGGATCAGCGAGCTGTCTGGGCTCTCCTGCAGTGCCCCTTCTCAG|AAATGGAGAAGGTGAAGCAATATTGTTCCATTAACTCCAAGAAAGGTCAAGAGGTTGTCACCTTGGTGACCATCCCCTAG___GCAAGGTGTTGGGGTGCTAGGAAGAAGGTGGAGGCTGACCAATTCCCTCATCTGACAGGTTGTGTG MDESALLDLLECPVCLERLDASAKVLPCQHTFCKRCLLGIVGSRNELRCPECRTLVGSGVEELPSNILLVRLLDGIKQRPWKPGPGGGSGTNCTNALRSQSSTVANCSSKDLQSSQGGQQPRVQSWSPPVRGIPQLPCAKALYNYEGKEPGDLKFSKGDIIILRRQVDENWYHGEVNGIHGFFPTNFVQIIKPLPQPPPQCKALYDFEVKDKEADKDCLPFAKDDVLTVIRRVDENWAEGMLADKIGIFPISYVEFNSAAKQLIEWDKPPVPGVDAGECSSAAAQSSTAPKHSDTKKNTKKRHSFTSLTMANKSSQASQNRHSMEISPPVLISSSNPTAAARISELSGLSCSAPSQ|kwrr* 11BR018 ENSG00000143554.14 ENSG00000143554.14 +/+ +/+ chr1:153779955 chr1:153779928 CDS CDS duplication 11 8 0 83 86 medium out-of-frame . AMP-binding_enzyme(100%),AMP-binding_enzyme_C-terminal_domain(100%)|AMP-binding_enzyme_C-terminal_domain(100%) . . ENSG00000143554.14 ENSG00000143554.14 ENST00000271857.6 ENST00000271857.6 downstream upstream duplicates(1) ^(AAAAGGTCTGTCATCCTCCAGTTGAAGTCTGTGTGCCTACCAAGAATGGCCGGAGGACTCGCTGCTTGACGGGAGGGATGCTCCAGCTTGGTCTCCAGGGACAACTGTACCTGGAGATAAAGTCTGGATACCAGGGAGGGACAGAGATGCTCTTCCTTCCACAGTGTGGCCACTTGCTGGGCCATGTGAACCAGCAGAGGAGAGTTCCTTGGCTATGCTGTTGTTCCCCCGCTGTCCAGGGAGAATGGAGGTGGACTGAGGAGTGAAGTTTGGGCGAACTGCACAGAGCTGCTCCTCTTCACCCCGAAAATTTGTCTTTTTACAGAATCCAGGTTCTCCCCTCCCTCATCACTGCTGTTGCTTCCTTTGAAAGTCTAAACCACTGGAGGCTTCTTTTTCCTTCCTCTCTCCTTCCCCAGTTTCCTCTGTCCCAATTAAAACCAGGATGGAGAGCATTTGCTGGCTGGCCCCAATTATTGTACCCTTGCCCAAAGGGAGGGGCCTCTGTCGTGACCCCTCAGAAATCTGGCAGTCTGGGTTTCCACCTTTCCCCTATTTAACTCTCAGCCCCCACCCATCCCCTGGGGTTGCGGCTGGCAGGCCGGGACTTGCAGAACCAAATGGGCCAGGGGCCAAGTTCATTCTTTTGGGAGAGAGCAATGGTACCTTCCCTTAACGGGAAAACGAGAAATATTGAGGGGAAGATGGACTGCGATCCAAACGCCCTGGCTCTCAGGCCTGGACTCTAGGGCTTAGCCAGATGCCTAAACCGCCCAAGCCGAGAAACAACTTAGAAGACAGACATAACCCTGGGATTCAGGGAAGGCGCGAGCACCGCCCAGGACCTGGTAGGGTGCGAGCCGCGAGCAGTCCGGGAGGGAGCGCGCCTAGGGCGGAGCGTAGGCTGTGGGGGGAGGGCTGGGAGTCCGGGGCCGCCCCACACCCGCACTCCTCCCGGGTTTCTGCTCTCCGCCCGTGTGGAGTGGTGGGGGCCTGGGTGGGAATGGGCGTGTGCCAGCGCACGCGCGCTCCCTGGAAGGAGAAGTCTCAGCTAGAACGAGCGGCCCTAGGTTTTCGGAAGGGAGGATCAGGGATGTTTGCGAGCGGCTGGAACCAGACGGTGCCGATAGAGGAAGCGGGCTCCATGGCTGCCCTCCTGCTGCTGCCCCTGCTGCTGTTGCTACCGCTGCTGCTGCTGAAGCTACACCTCTGGCCGCAGTTGCGCTGGCTTCCGGCGGACTTGGCCTTTGCGGTGCGAGCTCTGTGCTGCAAAAGGGCTCTTCGAGCTCGCGCCCTGGCCGCGGCTGCCGCCGACCCGGAAGGTCCCGAGGGGGGCTGCAGCCTGGCCTGGCGCCTCGCGGAACTGGCCCAGCAGCGCGCCGCGCACACCTTTCTCATTCACGGCTCGCGGCGCTTTAGCTACTCAGAGGCGGAGCGCGAGAGTAACAGGGCTGCACGCGCCTTCCTACGTGCGCTAGGCTGGGACTGGGGACCCGACGGCGGCGACAGCGGCGAGGGGAGCGCTGGAGAAGGCGAGCGGGCAGCGCCGGGAGCCGGAGATGCAGCGGCCGGAAGCGGCGCGGAGTTTGCCGGAGGGGACGGTGCCGCCAGAGGTGGAGGAGCCGCCGCCCCTCTGTCACCTGGAGCAACTGTGGCGCTGCTCCTCCCCGCTGGCCCAGAGTTTCTGTGGCTCTGGTTCGGGCTGGCCAAGGCCGGCCTGCGCACTGCCTTTGTGCCCACCGCCCTGCGCCGGGGCCCCCTGCTGCACTGCCTCCGCAGCTGCGGCGCGCGCGCGCTGGTGCTGGCGCCAG___AGTTTCTGGAGTCCCTGGAGCCGGACCTGCCCGCCCTGAGAGCCATGGGGCTCCACCTGTGGGCTGCAGGCCCAGGAACCCACCCTGCTGGAATTAGCGATTTGCTGGCTGAAGTGTCCGCTGAAGTGGATGGGCCAGTGCCAGGATACCTCTCTTCCCCCCAGAGCATAACAGACACGTGCCTGTACATCTTCACCTCTGGCACCACGG___GCCTCCCCAAGGCTGCTCGGATCAGTCATCTGAAGATCCTGCAATGCCAGGGCTTCTATCAGCTGTGTGGTGTCCACCAGGAAGATGTGATCTACCTCGCCCTCCCACTCTACCACATGTCCGGTTCCCTGCTGGGCATCGTGGGCTGCATGGGCATTG___GGGCCACAGTGGTGCTGAAATCCAAGTTCTCGGCTGGTCAGTTCTGGGAAGATTGCCAGCAGCACAGGGTGACGGTGTTCCAGTACATTGGGGAGCTGTGCCGATACCTTGTCAACCAGCCCCCG___AGCAAGGCAGAACGTGGCCATAAGGTCCGGCTGGCAGTGGGCAGCGGGCTGCGCCCAGATACCTGGGAGCGTTTTGTGCGGCGCTTCGGGCCCCTGCAGGTGCTGGAGACATATGGACTGACAGAGGGCAACGTGGCCACCATCAACTACACAGGACAGCGGGGCGCTGTGGGGCGTGCTTCCTGGCTTTACAAG___CATATCTTCCCCTTCTCCTTGATTCGCTATGATGTCACCACAGGAGAGCCAATTCGGGACCCCCAGGGGCACTGTATGGCCACATCTCCAG___GTGAGCCAGGGCTGCTGGTGGCCCCGGTAAGCCAGCAGTCCCCATTCCTGGGCTATGCTGGCGGGCCAGAGCTGGCCCAGGGGAAGTTGCTAAAGGATGTCTTCCGGCCTGGGGATGTTTTCTTCAACACTGGGGACCTGCTGGTCTGCGATGACCAAGGTTTTCTCCGCTTCCATGATCGTACTGGAGACACCTTCAG___GTGGAAGGGGGAGAATGTGGCCACAACCGAGGTGGCAGAGGTCTTCGAGGCCCTAGATTTTCTTCAGGAGGT)GAACGTCTATGGAGTCACTGTGCCAG___GGCATGAAGGCAGGGCTGGAATGGCAGCCCTAGTTCTGCGTCCCCCCCACGCTTTGGACCTTATGCAGCTCTACACCCACGTGTCTGAGAACTTGCCACCTTATGCCCGGCCCCGATTCCTCAGGCTCCAG___GAGTCTTTGGCCACCACAGAGACCTTCAAACAGCAGAAAGTTCGGATGGCAAATGAGGGCTTCGACCCCAGCACCCTGTCTGACCCACTGTACGTTCTGGACCAGGCTGTAGGT?CCTACCTGCCCCTCA|CAGGCTGTAGGTGCCTACCTGCCCCTCACAACTGCCCGGTACAGCGCCCTCCTGGCAGGAAACCTTCGAATCTGAGAACTTCCACACCTGAGGCACCTGAGAGAGGAACTCTGTGGGGTGGGGGCCGTTGCAGGTGTACTGGGCTGTCAGGGATCTTTTCTATACCAGAACTGCGG(TCACTATTTTGTAATAAATGTGGCTGGAGCTGATCCAGCTGTCTCTGACCTACA)$ MPKPPKPRNNLEDRHNPGIQGRREHRPGPGRVRAASSPGGSAPRAERRLWGEGWESGAAPHPHSSRVSALRPCGVVGAWVGMGVCQRTRAPWKEKSQLERAALGFRKGGSGMFASGWNQTVPIEEAGSMAALLLLPLLLLLPLLLLKLHLWPQLRWLPADLAFAVRALCCKRALRARALAAAAADPEGPEGGCSLAWRLAELAQQRAAHTFLIHGSRRFSYSEAERESNRAARAFLRALGWDWGPDGGDSGEGSAGEGERAAPGAGDAAAGSGAEFAGGDGAARGGGAAAPLSPGATVALLLPAGPEFLWLWFGLAKAGLRTAFVPTALRRGPLLHCLRSCGARALVLAPEFLESLEPDLPALRAMGLHLWAAGPGTHPAGISDLLAEVSAEVDGPVPGYLSSPQSITDTCLYIFTSGTTGLPKAARISHLKILQCQGFYQLCGVHQEDVIYLALPLYHMSGSLLGIVGCMGIGATVVLKSKFSAGQFWEDCQQHRVTVFQYIGELCRYLVNQPPSKAERGHKVRLAVGSGLRPDTWERFVRRFGPLQVLETYGLTEGNVATINYTGQRGAVGRASWLYKHIFPFSLIRYDVTTGEPIRDPQGHCMATSPGEPGLLVAPVSQQSPFLGYAGGPELAQGKLLKDVFRPGDVFFNTGDLLVCDDQGFLRFHDRTGDTFRWKGENVATTEVAEVFEALDFLQEVNVYGVTVPGHEGRAGMAALVLRPPHALDLMQLYTHVSENLPPYARPRFLRLQESLATTETFKQQKVRMANEGFDPSTLSDPLYVLDQAVG?YLPL|tgcrclpaphncpvqrppgrkpsnlrtstpeapergtlwgggrcrctglsgifsipelrslfcnkcgws* 11BR018 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 3 8 0 14 731 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream . ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAAT)CCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGG(ACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 11BR018 ENSG00000162600.12 ENSG00000233216.1(186482),ENSG00000162600.12(65234) -/- ./- chr1:58506060 chr1:58415485 CDS/splice-site intergenic deletion/read-through 6 1 0 90 9 medium out-of-frame . . . . ENSG00000162600.12 . ENST00000371226.8 . upstream downstream . ^(GTCACCGCTTTCGCTTCTGCTTGA___GTAGTCAAGTGAAAAAATGAGCTTCATCTGTGGATTGCAGTCTGCTGCTAGAAACCATGTTTTCTTCCGATTTAATTCACTGTCTAACTGGAGAAAATGTAACACATTAGCATCCACCTCACGGGGCTGTCATCAAGTACAAGTTAACCATATAGTAAATAAGTATCAGGGACTGGGAGTAAATCAGTGTGACAGGTGGAGTTTTCTGCCTGGAAACTTTCATTTTTATAGTACTTTTAACAACAAAAGAACAGGAGGCCTCTCAAGTACCAAAAGTAAGGAAATTTGGAGGATTACCAGCAAATGTACTGTATGGAATGATGCTTTTTCAAGACAGCTGCTAATAAAAGAAGTTACAGCAGTCCCTAGTCTGTCAGTATTGCATCCTCTAAGCCCTGCTTCCATAAGAGCTATTAGGAATTTCCATACTTCTCCACGGTTTCAAGCTGCTCCGGTTCCTCTCTTGTTGATGATTCTTAAACCAGTACAGAAGTTATTTGCAATCATTGTAGGCAG___GGGCATAAGGAAATGGTGGCAGGCACTTCCTCCTAACAAGAAGGAAGTAGTTAAAGAAAATATAAGGAAGAATAAATGGAAGCTATTCCTTGGTTTGAGTAGTTTTGGATTGCTCTTTGTGGTGTTTTATTTTACTCACCTGGAAGTAAGTCCAATCACAGGAAGGAGCAAGCTACTATTATTGGGGAAAGAACAGTTCAGACTTTTATCGGAACTGGAATATGAAGCA___TGGATGGAAGAATTTAAAAATGATATGCTAACTGAGAAAGATGCCCGATACCTGGCTGTTAAAGAAGTGCTTTGTCATCTAATTGAATGCAATAAAGATGTTCCAGGGATCTCTCAGATCAATTGGGTTATTCATGTGGTTGATTCCCCAATTATTAATGCCTTCGTGCTTCCA___AATGGACAAATGTTTGTTTTCACTGGATTTTTAAATAGTGTAACCGATATTCATCAACTTTCTTTCCTTCTGGGCCATGAAATAGCACATGCAGTACTTGGGCATGCT___GCAGAAAAGGCTGGCATGGTTCATTTGTTGGATTTCCTAGGTATGATTTTCCTCACAATGATTTGGGCCATTTGTCCTCGAGATAGCTTGGCACTTTTGTGCCAGTGGATACAGTCTAAATTGCAGGAG___TATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCCGAAG)CTGACAAAATTGGACTACTGCTTGCTGCAAAG___GCTTGTGCAGACATAAGAGCCAGTTCAGTGTTTTGGCAGCAAATGGAGTTCGTTGATAGCCTGCATGGCCAACCCAAGATGCCAGAATGGTTATCTACACACCCTTCTCATGGCAATCGAGTTGAGTACTTGGATAGACTTATACCTCAG|GATATGCATGTATCCCCAAGGGCAGCCAGGGACTTTGAAAGAGCCCAGTGGAACCTACACCTAAGTGGA MSFICGLQSAARNHVFFRFNSLSNWRKCNTLASTSRGCHQVQVNHIVNKYQGLGVNQCDRWSFLPGNFHFYSTFNNKRTGGLSSTKSKEIWRITSKCTVWNDAFSRQLLIKEVTAVPSLSVLHPLSPASIRAIRNFHTSPRFQAAPVPLLLMILKPVQKLFAIIVGRGIRKWWQALPPNKKEVVKENIRKNKWKLFLGLSSFGLLFVVFYFTHLEVSPITGRSKLLLLGKEQFRLLSELEYEAWMEEFKNDMLTEKDARYLAVKEVLCHLIECNKDVPGISQINWVIHVVDSPIINAFVLPNGQMFVFTGFLNSVTDIHQLSFLLGHEIAHAVLGHAAEKAGMVHLLDFLGMIFLTMIWAICPRDSLALLCQWIQSKLQEYMFNRPYSRKLEAEADKIGLLLAAKACADIRASSVFWQQMEFVDSLHGQPKMPEWLSTHPSHGNRVEYLDRLIPQ|dmhvspraardferaqwnlhls 11BR018 ENSG00000159216.18 ENSG00000159147.18 -/- -/- chr21:34880557 chr21:33584768 CDS/splice-site CDS/splice-site deletion 0 4 0 92 21 medium out-of-frame . Runt_domain(100%)| . . ENSG00000159216.18 ENSG00000159147.18 ENST00000300305.7 ENST00000303071.10 upstream downstream . ^(GGAAAGGGGAACAGTTAAATTTGTAATTTGGGTTGTGTGAAAACTTCTTTGGGCCTCATAAACAACCACAGAACCACAAGTTGGGTAGCCTGGCAGTGTCAGAAGTCTGAACCCAGCATAGTGGTCAGCAGGCAGGACGAATCACACTGAATGCAAACCACAGGGTTTCGCAGCGTGGTGAGCATCACCAACCCACAGCCAAGGCGGCGCTGGCTTTTTTTTTTTTTTTAATCTTTAACAATTTGAATATTTGTTTTTACAAAGGTGCATTTTTTAATAGGGCTTGGGGAGTCCCAGAGGTATCCAGCAGAGGGGAGAAGAAAGAGAGATGTAGGGCTAGAGGGGTGAGGCTGAAACAGTGACCTGTCTTGGTTTTCGCTCCGAAGGTAAAAGAAATCATTGAGTCCCCCGCCTTCAGAAGAGGGTGCATTTTCAGGAGGAAGCGATGGCTTCAGACAGCATATTTGAGTCATTTCCTTCGTACCCACAGTGCTTCATGAGAG___AATGCATACTTGGAATGAATCCTTCTAGAGACGTCCACG___ATGCCAGCACGAGCCGCCGCTTCACGCCGCCTTCCACCGCGCTGAGCCCAGGCAAGATGAGCGAGGCGTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGACCGCAGCATGGTGGAGGTGCTGGCCGACCACCCGGGCGAGCTGGTGCGCACCGACAGCCCCAACTTCCTCTGCTCCGTGCTGCCTACGCACTGGCGCTGCAACAAGACCCTGCCCATCGCTTTCAAG___GTGGTGGCCCTAGGGGATGTTCCAGATGGCACTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAA)TGCTACCGCAGCCATGAAGAACCAGGTTGCAAGATTTAATGACCTCAGGTTTGTCGGTCGAAGTGGAAGAG|GATCCCAAACTCTCCTCTGAGCTCCGTTGTACCTTCCAGCAGAGCCTTATCTATTGGCTCCACCCTGCTTTGTCTTGGCTACCACTGTTCCCTCGTATTGGAGCTGATAGAAAAATGGCTGGAAAGACAAGTCCTTGGTCAAATGATGCAACCCTGCAGCATGTTTTAATGAG(TGACTG___GTCTGTGAGCTTTACTTCTCTATATAATTTGCTGAAGACAAAACTTTGCCCCTATTTCTACGTTTGTACCTATCAGTTTACTGTCCTGTTCCGAGCAGCAGGATTAGCTGGAAGTGACTTAATCACAGCTCTCATATCTCCAACAACTCGAGGTTTAAGAGAAGCTATGAGAAATGAAG___GTATTGAATTTTCTCTGCCTTTAATAAAAGAAAGTGGCCATAAGAAGGAGACAGCATCTGGAACAAGCTTGGGATATGGGGA___GGAGCAAGCCATCAGTGATGAGGATGAAGAGGAAAGTTTTTCCTGGCTGGAAGAGATGGGTGTGCAAGATAAAATTAAAAAGCCAGACATACTTTCTATCAAGCT___GCGTAAAGAGAAACATGAAGTACAAATGGATCACAGACCTGAATCTGTTGTGTTGGTAAAAGGAATCAACACCTTTACATTGCTCAATTTTTTGATTAACTCTAAGAGTTTAGTTGCTACCTCAGGTCCACAGGCAGGACTTCCTCCAACCCTCTTGTCCCCTGTTGCTTTCCGAGGTGCCACAATGCAAATGCTTAAG___GCACGGAGTGTGAATGTGAAGACACAAGCTCTTTCTGGATACAGAGACCAATTTAGTTTGGAGATTACAGGTCCTATCATGCCTCATTCTCTGCATTCACTGACCATGCTGCTCAAATCTTCACAGAGTGGATCTTTCTCTGCAGTACTGTATCCACACGAGCCAACTGCTGTATTTAACATCTGCCTGCAAATGGACAAAGTACTTGATATG___GAGGTTGTTCATAAGGAGCTTACTAACTGTGGTTTGCACCCTAACACTCTGGAGCAACTTAGTCAAATACCGTTACTTGGGAAATCATCTTTACGGAATGTGGTGCTGAGAGACTACATTTATAATTGGAGATCCTGAACACCAAAGTAAGCCTAAAAGGAATCTTTGAGGAAAAAAGCCTTCTAGCAAGGAAATTCAAGATTCTTGAAGTTGAAGGAATATACTGAAATGTTTATAAACATAACTTTTACTACAGTAGCATCTAAGGTTTTAAATGTGTTTTACTATTTTCAGATTAGATTTTTAGATATAAAGATGAAAAACTCAGATAACTCAAATGAGATATCTATATCCCTACAACCTAATTGTATATTGAGCAGAAACTGAATTAATATGCTTCCTTGCAAATGGGAAATCACATAGCAGTTACCCCATGGCATTGTGACTAATGGCATCAGGGCAAAAATATGTTACTTTACGATTTACCTGTTAGCAGGTTCTTGTTTCATAAAGGTAGAAAATAAATACAGACAACATCTACTGAGCTAGTTGATTGGTGATGCTTCTACCTTAATATCTTTCCTACTGATTTATAATTCCTTTATTTTCACATATACTAAAACTTTTTAAATGCATGTTAATTCAGATAAAAAGGCATTTTGTATTCCACATAGAATAGTGTTAAGAATTGTGAAGTACACTGAGCTGTCACGGCAAAGTAGTATTTAATGTGCTTATAGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGGGGGGGACTGTATAATTCACATTTTTAAAATAAAAGTGCTTAAAAATCAAAA)$ MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGR|gsqtll* 11BR019 ENSG00000213958.2(12786),ENSG00000150722.10(10604) ENSG00000150722.10 ./+ +/+ chr2:181975264 chr2:182061442 intergenic CDS/splice-site deletion/read-through 43 24 0 134 1987 high . . . . . . ENSG00000150722.10 . ENST00000409702.1 downstream upstream duplicates(2),mismatches(1) CTTTTGGCCTAAGGACACAGTGAAAAATGTACCGAGACCTTGGAGAGCCACGAACCAAGAAACTTCAGAAACCTCTGATATCTGATCAAGAGTTAAGAGACGTCAGAATCATCACAACTGACAAAAG___AATGTTT?CTCTCTTCAAGATTCTCTTTTGAAAGACATCTAAAAAG|AAATAGATGACAAGAGGGGGCCCAACACACAAGGGGAA___TTACAGAATGCATCCCCTAAGCAAAGGAAGCAGAGTGTGTACACACCACCCACCATAAAAG___GGGTTAAGCATCTGAAAGGCCAGAATGAATCAGCATTCCCTGAAGAAGAAGAAGGCACCAATGAAAGAGAGGAGCAGCGGGACCATTAATTACTGGTCTGCAGCAAGAAGGCTTCTTGGAAATAACTGAACTATTAACTTTTCTGAGTATACCATGG(AATTCCACTGCTTGACTTCCAGAAGCATCCTCCATCTCTGCACCCCACACTCATACAGTAGCTATGCACATCCTGGAAGTCTCCTTGACTGAACTTTAGAACTAA___GTGCAAAATGAGTTGATAACAACCAGAAGTTGACTTGTTAGTGCTGTGCTTCTACTCGAGCTTGGAAAAATCCCAACACAAAACAAACACCACCTCCGATTCCATCATGATGCCACGTTGCTTTCTACTGGATTACCTCCTGAAGCACTTTAGATATTTTATACATAAGTATTGACATGTTTTTCAGAAGCTGTTTCTTCACTTATTGCTTTTTTCTAATAATTTTTATTACACCATTTGCCAAGTCCTTCCCTTTGGTTTTAGTTTATTCCTCTCTACAACTAAAAAAGGGATCTTGAGTTTAGGTACATTTTAAGTGATTCATTTTTAGTTTTTCTAATTCTGGAATCTGAGCCTTCTCTTACAACAGGGAGTCTTTCAAAAACATTTTTTTGTTTCTTTTTCAAATTCCACTGTGTTTATTTATTGCCTTGTTTCTTTTTCAAATTCCATTGGTCTTGATTTAATTTAGTTCCACAGATTTTACTGATAGTCTACTACCTGCCAACTACTGAATTATGCAGCAGACTTATAAAAATAAAAAGGCTATTTTATTGTTATTGCC)$ . 11BR019 ENSG00000196235.14 ENSG00000285939.2 +/+ -/+ chr19:39469398 chr17:54093550 CDS/splice-site intron translocation/5'-5' 11 17 0 722 42 high out-of-frame . Early_transcription_elongation_factor_of_RNA_pol_II__NGN_section(100%),Spt5_transcription_elongation_factor__acidic_N-terminal(100%)| . . ENSG00000196235.14 ENSG00000285939.2 ENST00000599117.5 . downstream upstream . ^(AAGCCTTTTCTTCCCTCTAGGCCAGAGGACCCCACCTGGAGCCCTAGTAGCCAAGGGGAAGAGTTAAGAAGGAGGAAAGTAAG___ATGTCGGCCCCGCACTCCGCCCAGGCCAGCCCTGCCTCTCTCAAGATGGCGACCTGGAAGTGCGTCGCCCGTGCCAGCCCCGGAAATCTCGTGTTAGGCGAGGTCAACGGGTAGGTTCTCGCGAGAGGACCCGTCAGCCCCAGTCAGGCGTCGTGCGAACAGCAGCTGGTACCGAAGGCGGAGGTGGAGCCCGAGAG___GGAACCAGCGGGGAAACTGAGGCTCGGGGTGGAGCGCAGGATTGTGGGACGCGCCAAGGCTGCTGTCTTTCCCAGCAGCAGCGGAAGATGTCGGACAGCGAGGACAGCAACTTTTCCGAGGAGGAGGACAGCGAGCGCAGCAGTGACGGCGAGGAGGCCGAG___GTAGACGAAGAGCGGCGGAGTGCAGCGGGCAGTGAGAAAGAAGAAGAGCCTGAGGACGAAGAGGAGGAGGAAGAGGAGGAGGAATACGATGAGGAAGAGGAGGAAGAAGATGATGACCGACCCCCCAAGAAACCCCGCCATGGAGGCTTCATTCTGGACGAGGCTG___ATGTTGACGATGAGTATGAGGACGAGGACCAGTGGGAGGATGGAGCAGAGGACATTCTAGAGAAAG___AAGAGATTGAAG___CCTCCAATATCGATAATGTTGTCCTGGATGAAGATCGTTCTGGGGCTCGCCGCCTGCAAAACCTCTGGAG___GGACCAGCGAGAAGAAGAACTGGGCGAGTATTACATGAAGAAATACGCCAAGTCATCTGTGGGAGAGAC___GGTGTATGGAGGATCTGATGAGCTCTCAGACGACATCACCCAGCAGCAGCTGCTCCCAGGAGTCAA___GGATCCCAATCTGTGGACTGTCAAATGTAAG___ATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACG___CCCCTGCAGATCAAGTCAGTAGTGGCACCAGAGCATGTGAAGGGCTACATCTACGTGGAGGCCTACAAGCAGACCCACGTGAAGCAGGCCATTGAGGGGGTGGGCAACCTGCGGCTTGGCTACTGGAACCAGCAGATGGTGCCCATCAAGGAGATGACAGACGTGCTCAAAGTGGTGAAGGAGGTGGCCAACCTGAAACCAAAGTCCTGGGTCCGCCTCAAGCGGGGCATCTACAAGGATGACATTGCTCAG___GTGGACTACGTGGAGCCCAGCCAGAACACCATCTCCCTGAAGATGATCCCACGCATCGACTACGATCGCATCAAGGCCCGCATGAGCTTG___AAAGACTGGTTTGCCAAAAGGAAGAAGTTTAAGCGGCCTCCACAGAGGCTGTTTGATGCTGAGAAGATCAG___GTCCCTGGGGGGTGATGTTGCCTCTGATGGTGACTTCCTCATCTTTGAGGGGAACCGTTACAGCCGGAAGG)GCTTTCTGTTCAAGAGCTTCGCCATGTCTGCTGTG___ATCACGGAGGGTGTGAAGCCAACACTCTCTGAGCTGGAAAAGTTTGAGGACCAGCCAGAGGGCATTGACCTGGAGGTGGTGACTGAGAGCACAG___GGAAGGAGCGGGAGCACAACTTCCAACCTGGGGACAACGTGGAGGTCTGTGAGGGTGAGCTCATCAACCTGCAGGGCAAGATCCTCAGCGTGGATGGCAACAAGATCACCATCATGCCCAAGCATGAGGACCTCAAG|ATTCCATTTTTTGGCAAGAAAAGTCATCACTTACTTCTGCTGCCCCAAACGTTTCATTGTTCCTCATTGCCTCAAGGAAAAAGTCAATCATCGCTATCCTGAAGAGCACTGGTGCCCTAGTTTTTGTTGTTGCCATTTCTCATCTTCAATATTCTGCTGGTGATATGTAAATAGTATTTGTCAGGGTCCAGTTTATTTTAGAATGCCAATCGCTGTACTTGGTATTTCACATAAAATATTGTATTTAACCCTGAGGGCAAGGGAGATAATTATTTAC MSDSEDSNFSEEEDSERSSDGEEAEVDEERRSAAGSEKEEEPEDEEEEEEEEEYDEEEEEEDDDRPPKKPRHGGFILDEADVDDEYEDEDQWEDGAEDILEKEEIEASNIDNVVLDEDRSGARRLQNLWRDQREEELGEYYMKKYAKSSVGETVYGGSDELSDDITQQQLLPGVKDPNLWTVKCKIGEERATAISLMRKFIAYQFTDTPLQIKSVVAPEHVKGYIYVEAYKQTHVKQAIEGVGNLRLGYWNQQMVPIKEMTDVLKVVKEVANLKPKSWVRLKRGIYKDDIAQVDYVEPSQNTISLKMIPRIDYDRIKARMSLKDWFAKRKKFKRPPQRLFDAEKIRSLGGDVASDGDFLIFEGNRYSRKGFLFKSFAMSAVITEGVKPTLSELEKFEDQPEGIDLEVVTESTGKEREHNFQPGDNVEVCEGELINLQGKILSVDGNKITIMPKHEDLK|ipffgkkshhllllpqtfhcsslpqgksqssls* 11BR019 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 10 1 27 32 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(2),mismatches(1) AGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAG(ACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR019 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 21 0 30 63 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(4),mismatches(1) CGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTG(GATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR019 ENSG00000163558.13(22939),ENSG00000239628.1(16762) ENSG00000136603.14 ./+ +/+ chr3:170328916 chr3:170359699 intergenic 5'UTR/splice-site deletion/read-through 8 12 0 88 69 high . . |SKI/SNO/DAC_family(100%),c-SKI_Smad4_binding_domain(100%) . . . ENSG00000136603.14 . ENST00000259119.9 downstream upstream duplicates(3),low_entropy(1) CACTCCTGAAGCCACCGAGACCACGAATCCACCAGAAGGAAGAAACTGTGGACACGTCCAAACATCAGAAGTAACAAACTCCGGACACACCATCTTTAAGAGCTGTAACACTCACCGCAAGGGTCTGCAGCTTCATTCTTGAAGTCAGGGAGACCAAGAACCCACCAATTCTGGACACAATGTTTGGAGGATGTTCACTATCCTGAAAACAG|ATTAATTAAAAGAAGAATGAACTATAATCCTTGAAGATAACTGGGCAATTTTTTAAGTCGGAGGCTGTTCTTACTGGTGTGAGGATTTACACACGTCTTCAGTTTTTCAGCACAGACCAGCAGACCATCATTTTTAGAGGAAATACTCCCTCTGCCCTCCTTTTTGGTTTCCTTGGTGGTAAAGATTAAATTTGGTTGCATC(ATTTTGACTTGTGTTTGAGTCTAGATTTTATGGCACAAGGAATGGCATAAACTTTTCATGTGTTTTGGTTAAAACAAACCAGACCATTGCATTGACCCTGGACATCTTTAATTGAGAAATTGGTAACTTTATTTTAATATGTATATCTGAAGAATTCAAGAAAACAAAGGCATCCTCAGAGGTGTGCCTCTTTTCTTTATTATTAGAGGCAAAACGAACAATTTTATAGGATTTGTAGTGAAATTATACCAGATTATAAGGAGAACCAAAACTAAGTCGCAAAATTTATTAATTTAAGGGGCTCTCGCTTTGAAAGTTTGAGAGTAAGTTACGATAGGCATTTGTATCCATTCATTACTTTCCTCTTTTCAAATAAGCAACTAAATAGAAATGCTAATCTCAGACTTAATTATTTAACAGAAGAGTGTACCATGGAAAACCTCCAGACAAATTTCTCCTTGGTTCAGGGCTCAACTAAAAAACTGAATGGGATGGGAGATGATGGCAGCCCCCCAGCGAAAAAAATGATAACGGACATTCATGCAAATGGAAAAACGATAAACAAGGTGCCAACAGTTAAGAAGGAACACTTGGATGACTATGGAGAAGCACCAGTGGAAACTGATGGAGAGCATGTTAAGCGAACCTGTACTTCTGTTCCTGAAACTTTGCATTTAAATCCCAGTTTGAAACACACATTGGCACAATTCCATTTAAGTAGTCAGAGCTCGCTGGGTGGACCAGCAGCATTTTCTGCTCGGCATTCCCAAGAAAGCATGTCGCCTACTGTATTTCTGCCTCTTCCATCACCTCAGGTTCTTCCTGGCCCATTGCTCATCCCTTCAGATAGCTCCACAGAACTCACTCAGACTGTGTTGGAAGGGGAATCTATTTCTTGTTTTCAAGTTGGAGGAGAAAAGAGACTCTGTTTGCCCCAAGTCTTAAATTCTGTTCTCCGAGAATTTACACTCCAGCAAATAAATACAGTGTGTGATGAACTGTACATATATTGTTCAAGGTGTACTTCAGACCAGCTTCATATCTTAAAGGTACTGGGCATACTTCCATTCAATGCCCCATCCTGTGGGCTGATTACATTAACTGATGCACAAAGATTATGTAATGCTTTATTGCGGCCACGAACTTTTCCTCAAAATGGTAGCGTACTTCCTGCTAAAAGCTCATTGGCCCAGTTAAAGGAAACTGGCAGTGCCTTTGAAGTGGAGCATGAATGCCTAGGCAAATGTCAGGGTTTATTTGCACCCCAGTTTTATGTTCAGCCTGATGCTCCGTGTATTCAATGTCTGGAGTGTTGTGGAATGTTTGCACCCCAGACGTTTGTGATGCATTCTCACAGATCACCTGACAAAAGAACTTGCCACTGGGGCTTTGAATCAGCTAAATGGCATTGCTATCTTCATGTGAACCAAAAATACTTAGGAACACCTGAAGAAAAGAAACTGAAGATAATTTTAGAAGAAATGAAGGAGAAGTTTAGCATGAGAAGTGGAAAGAGAAATCAATCCAAG___ACAGATGCACCATCAGGAATGGAATTACAGTCATGGTATCCTGTTATAAAGCAGGAAGGTGACCATGTTTCTCAGACACATTCATTTTTACACCCCAG___CTACTACTTATACATGTGTGATAAAGTGGTTGCCCCAAATGTGTCACTTACTTCTGCTGTATCCCAGTCTAAAGAGCTCACAAAGACAGAGGCAAGTAAGTCCATATCAAGACAGTCAGAGAAGGCTCACAGTAGTGGTAAACTTCAAAAAACAGTGTCTTATCCAGATGTCTCACTTGAGGAACAGGAGAAAATGGATTTAAAAACAAGTAGAGAATTATGTAGCCGTTTAG___ATGCATCAATCTCAAATAATTCTACAAGTAAAAGGAAATCTGAGTCTGCCACTTGCAACTTAGTCAGAGACATAAACAAAGTGGGAATTGGCCTTGTTGCTGCCGCTTCATCTCCGCTTCTTGTGAAAGATGTCATTTGTGAGGATGATAAGGGAAAAATCATGGAAGAAGTAATGAGAACTTATTTAAAACAACAGGAAAAACTAAACTTGATTTTGCAAAAGAAGCAACAACTTCAGATG___GAAGTAAAAATGTTGAGTAGTTCAAAATCTATGAAGGAACTCACTGAAGAACAGCAGAATTTACAGAAAGAGCTTGAATCTTTGCAGAATGAACATGCTCAAAGAATGGAAGAATTTTATGTTGAACAGAAAGACTTAGAGAAAAAATTGGAGCAGATAATGAAGCAAAAATGTACCTGTGACTCAAATTTAGAAAAAGACAAAGAGGCTGAATATGCAGGACAG___TTGGCAGAACTGAGGCAGAGATTGGACCATGCTGAGGCCGATAGGCAAGAACTCCAAGATGAACTCAGACAGGAACGGGAAGCAAGACAGAAGTTAGAGATGATGATAAAAGAGCTAAAGCTGCAAATTCTGAAATCATCAAAGACTGCTAAAGAATAGAAACTGTTAAAGAGATTCATCTGTGTATTACTGACAAGGTTTTTTTTGTTTGTTGCTTGCTTTGGTAATTGAATTCTGAAGAATTTATCTGCATGACGATAACTAGGCATTCTATCCATTTGTAGATCAGAGAAAGTGAAGAGATTATATATTAGTACTTAAATTTTTACATTTTCCAAATGAATGAAAATGTATGTTTCTTTGTACTTTTTTAAAAAAATCAGCTTAGTAACAATACTATATGGTTTCAACTAGTAGGTAATCTGCTTATATTTCTAATGCAAACTTAACAATTGTGTACTTTTTAAAAGCTGCAATATGTGTTGGAAAATAGCTGTGGTCAATTTTGTTATCCATATTTCAGACTCAATTTTAGATACAATGGTGGCTTTATATTTTAAGTATATAGAGCTACTCAAGGAGTTGAATCTCCCCTTTTCTCATTAACACAATTTTTCTAAGTTGATATGGTGTACTCATTAACATACACCAAATTTACTTTTACTTTGTTCAGATTGTGGAATGAATTTCCACCAGTTCTCTTCTTTTTAATGTGTACCCTAGGAGGAATTTTACTGAGGTTATAGCATACCCCATGAGCACAGTGGGGAAGAAGAATGTGTTGTTATGTGCTGCTGCTAAACAGAAGCAGCAGTTGTAATTTGTTTTTCAGTTTAAATGTGGTTATAGTTAGATTTTTTTTTAAGCAGCAACTTTTCAAAAATAAAATGTGATAATTTCTGAACTTTTGTTTGTGTTGTTAATAGTGGTGTGAAAATATTAACGTTCTTGAGAAAAACTGATACCACTGTTGTGTATCAGTTTCTATACAATCCATAATCCTCCTGTACAGTTTTTACATGTAGTTATGAGTCTTACTAAAATTTATATAATGGACTTGTTTTCCTTTAAGTTGTAAAATGTTAAACACCTTGAAGGTTATTTTGGACTTCTGTATGTTTAAATGTTGTCTTACCAAAATTTGCACGAATGGACCATTTTCATTTACTACTTAATATCAAAATCAGGAATTTACAGTCAACTGATAGTACATGATAGGTGCATATAGGACAGTTTAGTTACCTGCTACTAAAAGATTTTTAGATAAGTTTTAGAAGATAAAGGAATTCCATAGTTTCAGGAGGGACAACATCTTCTGCACTTTTTTTTTGCACAGAAAAGTCTGTCATTCTCTAATGGCAAATTTCATATTTGTTAATTCTTGGCTCAAAATATATTAGGTAAAATTCTTAGATCTGTTTTTAAAGGGAGTTTCCTGAAACTATCATTAATTGACATTATTACCCCATGGATTTTATGGGATAATAAATGTTTTTCATGTTCTCTTATAAGATACTATGTATGAAATTACTTCAGAGAGCTATATTTATTTTAAAATAAATTAGCTAGGGTTAAGGTTATATTCTATTTCCAGCATAGAAGGTAGATAATCTAATGGTGTAGAAAGAATCACTAGGTTGTCATTTAACCAGTTATTTTCATATTTTGCTTAATAGTACATATCCAAAAAGAATTTTGTACTTCCCCAAATGTAATTTATTTACTAAATTGAGTATAACCTAAATGTGTGTTTTCTATTTTCCATTTAAATTTTGCTATATTAAGACTAATTTAATTCGTTGAGTCTTGGAATCTTCTCAAGGAGGAACAAATATTAAAATGACATGTAGAAACAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTCTCCCAGGCTGGAGTTCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACTCCCGGCTAATTTTTAGAAACAAATATTTAAAATGACATATTCTCCCAATACAATCTATTTAGATCTGGAGAAGGAAAAATCAGATATTTATGATATAGTTTTATTTTAATTTTGAATTATTTGTGTCACAGCTCAGCTTTTTGGAAGACAAACTCAAACACCTATAATTTCATTTATATTTCTAATTCACTTGGAACCTTTCTGCTTTATGTTACCTAGAAAATGATAATTTGTTTAACCCAAAACTTCTAAAATAAATTGCTTAATCCTTGAAATATGTTATTGGAAAATTTTAAGCAGTGCTTAAACACCATTAAATTATTATGAACTTGTAATTCAGAATTGAGTAAAGAAATATTTTTTCTAGTCCTTCATATATTGAAAACTTGCCACATGACATTGTATCGTCTTCATTTTCCAGAAGATGCGTTGGTGTGCCATAGGTTTCTAACTTCCTTGAAAATAGTTTTTTAAGTCAATTGTAAATATACGTATTATTGTTAAAAGTAACTTTAAACTGCAACACATAGCTTCAAAACAATATAGAGATTTTGTAATACCTTATAAGTGGAGTTGGCTAAAATACCTTATCCATATAAAACTTATTCTATTCTTTGCATGCTTATTTTGTGTGTTGGTTGCTAGCTTAAAGTTTGATTTGTTGTTACTCTTTGTGTGCCAAATTCACTAGGCAAGCGGATTTTTCCTCAGACTTCAAAAAATAATTCTTTTAAGAAAAAATGTAAAAATGTTTATTCTAAAAAGCTGCATTAAAGGGACAACCTATAAAAAGTTTTGCTAGCTCATCTTTAGAAGGAAGAAAGAATATTAGCTTGGGTGATGTTTAATTTGGGTGGCGATAGTTTCTGTAGGCTAAACTTTATGAGAAAAGTGTACCTACTCTATAAAGGTAATAAATGTAAAACCTCTTGCTGTTATTGAGGAAGCTCTTCAACTACCCTAAATTTCACAAATGTAACTTATAACACTATGAAAAGATTTGACCAACAATTTACGTTTGCTGTGTGCTTTAGTTTTTGTTTAAGCATATTCTTTTGCTTGAATTTCTGTGTTCATGAGAGTTAGGGTGTTTTATGCTTCTTGAACTAATTTTATAACATATTTAATATATTACCAGTTAAGATATAAAATCATTTGTACATAGCGAATTGTAAAGCAGCTATTAAAGTAGGTGAAATAAAGTATATATTTGCCGGTTATCCATATCTTTTAGAAGTCCTGACAGAACAACCAGTTTATTTGCACATAGGTAGCTTCTGTTTGAAGGAAGGTAAAGTTATAAGGAAACTCAAATACTATAAGATGTGTCAAGGTATTTCTCCAGAATTAATTGCAAAGCTAGTGCTGAAGGATTTTAATCAGCTTCTAAAATTTTCTTCTCAATAAGGCATATGTTTTGATTACTTAGGGAAGATTCCTCATTTTTATTTGCCCTTTATGCATTTAATCCACATGATAGGACATTAAAAATTAATATAAAGAAAAATCGTGCTCATACTGTACATCTGTTTCTGTGCTTGGAACTACTTGTTAATAGTTTTTATCGAAGCTGTCAGCAATAAGGGACATAAAACTGCTGTATTATACATTGTGGAATTGAATAAACAGCCTAATTTTTTTTTTCTAGTATAGGGTACTTAAGCATTTCCACTTTTGGAAGAAAAGTGTATTAGTATTTTATATTGCATTTCATTTAAAAGGACAGTTTTTTTTTTTTTTTTGTAAATCCATTCATTGAAATGGTTTCTAAACTGTATAATGTAATTTGGAGCCTATTTAGTAATAGAATTAAATGTCCTATGTAGTGCTACAATTTTTGAATTAGAAAGTGATCAAATGTAAGAAAAAAATTTAAAAATTCAGCCCAGAAAACAAAATAGTGTATTAAATTAGTTTAATGTAAAAGGAATTTATAAGATTTTTTTCCTCAATATAGATACCTCACTTGAAAAGAAAGCACAGCATACTTAAAGTAGTTCTAGTAAACATGTCCTAGAAAACAGTTGCTAAATGTAGGACATCTTTTGAGGAATTAGTTTATGAGAAATAAAATTTTACTTGTTTTTACTATCCTGTTAGAAGTATTTGTTTATCCTGATAATTTTAAGCCAACATAGTAGTCTTAAATTACTTTTGAATTTCTAATCTGTGAAGGCAGTAAATGAAATATCTGTTCTGCAACTGTTGAAACAAATAATTGGCTACATTGACCATAATTAAAGTTAAAATTTTGCCAATGATGTACAGTTTTATGGTTAAAGTTGCTGTGGTTGGTTGCATTACATGACACAGAAAACTGTCCTCTACCTCACGTGAAATAAATATTTTATATGGTTTTACTAAAAATAAGACTCATGTATCTGGTCACCTAGTTTACAAATTTTGAATTATATTTATTGAAACATGACATACTGTGCTCTGAGCTTATACCTCAATTGTATTTTGTGCTGTTTTCCATTTTCATGCCTTGTAAATAACTTGTATAGATTGTGGATCAAATACTAAATAAAAACTTTTAATGCCAATTAAA)$ . 11BR019 ENSG00000108510.10 ENSG00000078687.17 -/- +/+ chr17:61950825 chr17:78064722 CDS/splice-site CDS/splice-site inversion 2 15 0 385 56 high out-of-frame . Mediator_complex_subunit_13_C-terminal(100%),Mediator_complex_subunit_13_N-terminal(100%)|Argonaute_hook(100%),M_domain_of_GW182(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),TNRC6-PABC_binding_domain(100%),UBA/TS-N_domain(100%) . . ENSG00000108510.10 ENSG00000078687.17 ENST00000397786.7 ENST00000636222.1 upstream upstream mismatches(1) ^(CTCTCTCTGGTCGGAGGCGGCGGTAATGGCGGATGGTGGGTTGTGGCGCCGGCGGCGGCTGCTGTGAGGGACGATGAGTGCCTCCTTCGTGCCGAACGGGGCCAGCCTGGAAGATTGTCACTGTAACCTCTTCTGCCTG___GCTGACTTGACAGGAATTAAGTGGAAAAAATATGTATGGCAAGGCCCAACTTCTGCCCCTATTCTGTTTCCTGTGACAGAAGAAGACCCCATTTTGAGCAGTTTTAGTCGCTGCCTTAAGGCAGATGTACTTGGTGTTTGGCGGCGAGATCAAAGACCTGGAAGAAGAGAATTGTGGATATTTTGGTGGGGTGAAGACCCCAGTTTTGCTGACCTTATTCACCATGACTTATCAG___AAGAAGAAGATGGAGTGTGGGAGAATGGACTTTCCTATGAATGCCGTACTCTGCTTTTCAAAGCAGTTCACAATCTATTGGAACGGTGTTTAATGAACAGGAATTTTGTACGTATTGGCAAGTGGTTTGTAAAGCCTTATGAAAAAGATGAAAAACCTATAAATAAAAG___TGAACACTTGTCCTGCTCCTTCACCTTTTTCTTGCATGGAGACAGCAATGTTTGTACCAGTGTGGAAATTAACCAACATCAACCTGTATACCTTCTCAGTGAAGAGCATATCACCCTTGCTCAACAGTCTAATAGCCCATTTCAAG___TTATCTTATGCCCATTTGGACTAAATGGCACTCTCACAGGACAGGCATTCAAGATGTCTGATTCAGCTACAAAAAAATTAATTGGTGAATGGAAACAGTTCTATCCTATCTCATGTTGCTTGAAGGAGATGTCTGAAGAAAAACAGGAAGATATGGATTGGGAAGATGATTCTTTAGCTGCAGTAGAAGTTCTTGTTG___CTGGTGTCCGAATGATCTACCCAGCATGCTTTGTTCTAGTCCCTCAGTCAGACATTCCTACTCCTAGCCCTGTGGGATCCACTCACTGTTCATCTTCTTGCTTGGGTGTCCACCAAGTGCCTGCTTCCACAAGAGATCCTGCTATGTCTTCGGTTACGCTTACACCACCTACGTCTCCTGAGGAAGTCCAAACAG___TTGATCCTCAGTCTGTCCAGAAGTGGGTCAAATTTTCTTCAGTATCTGATGGCTTCAACTCCGATAGTACTAGCCACCATGGTGGGAAAATACCCAGAAAATTAGCAAATCATGTGGTGGATAGAGTTTGGCAAGAATGCAATATGAACAGAGCACAGAACAA___GAGGAAGTATTCTGCTTCATCAGGTGGTCTATGCGAAGAAGCGACAGCTGCTAAAGTGGCATCCTGGGATTTTGTTGAAGCCACACAAAGAACAAATTGCAGTTGTTTGAG___GCACAAAAATCTCAAGTCAAGAAATGCTGGACAACAAGGACAGGCACCATCTTTAGGTCAGCAACAACAAATACTTCCTAAGCACAAGACCAATGAGAAGCAAGAAAAGAGTGAAAAGCCACAGAAACGCCCCTTGACTCCTTTTCACCATCGTGTGTCTGTTAGTGATGATGTTGGCATGGACGCAGATTCAGCCAGCCAAAGACTTGTGATCTCTGCTCCAGACAGTCAAGTGAGATTTTCAAATATCCGAACTAATGATGTAGCAAAGACTCCTCAGATGCATGGCACCGAAATGGCAAATTCACCTCAACCACCCCCACTTAGTCCTCACCCTTGTGATGTGGTTGATGAAGGAGTGACTAAAACACCTTCAACTCCTCAGAGTCAACATTTTTATCAAATGCCAACACCAGATCCCTTGGTTCCTTCTAAACCAATGGAAGATAGGATAGACAGTTTGTCCCAGTCTTTCCCACCTCAATATCAGGAAGCTGTAGAACCTACAGTATATGTTGGTACAGCAGTAAACTTGGAAGAAGATGAAGCCAATATAGCCTGGAAGTATTACAAGTTCCCAAAGAAAAAAGATGTAGAGTTTTTACCACCTCAACTTCCAAGTGATAAATTCAAGGATGATCCAGTTGGACCTTTTGGACAGGAAAGTGTAACATCAGTTACAGA___GTTAATGGTGCAATGTAAGAAACCTTTAAAAGTTTCTGATGAATTAGTGCAGCAATATCAAATTAAAAACCAGTGTCTTTCAGCAATAGCATCTGATGCAGAACAAGAACCTAAAATTGATCCATATGCATTTGTTGAAGGAGATGAGGAATTCCTTTTTCCTGATAAAAAAGATAGACAAAATAGTGAGAGAGAAGCTGGAAAAAAACACAAG___GTAGAAGATGGGACATCTAGTGTAACAGTGTTATCACATGAAGAAGATGCTATGTCATTATTTAGTCCCTCTATCAAGCAAG___ATGCTCCACGCCCTACTAGTCATGCCCGTCCTCCATCAACAAGTTTGATTTATGACTCAGACCTGGCTGTCTCTTATACTGACCTTGATAATCTCTTCAATTCTGATGAAGATGAACTAACA___CCTGGATCTAAAAAATCAGCAAATGGATCAGATGATAAAGCCAGCTGCAAGGAATCAAAGACAGGAAATCTGGACCCGTTATCTTGCATAA___GCACTGCAGATCTTCATAAAATGTATCCTACACCACCATCATTGGAACAACATATTATGGGATTTTCCCCAATGAATATGAATAATAAAGAATATGGTAGTATGGATACAACACCTGGAGGAACTGTTCTAGAAGGAAATAGTTCTAGTATAGGAGCGCAGTTCAAAATTGAGGTTGATGAGGGATTCTGTAGCCCCAAACCTTCTGAAATTAAA___GATTTTTCTTATGTCTATAAGCCTGAAAATTGTCAAATTCTAGTGGGATGTTCCATGTTTGCACCTCTAAAAACTCTACCAAGCCAATATCTGCCCCCTATCAAATTGCCAGAAGAGTGTATTTACCGTCAGAGTTGGACTGTTGGAAAATTGGAATTGCTTTCTTCAGGGCCTTCAATGCCATTCATCAAAGAGGG___TGATGGAAGTAATATGGATCAAGAATATGGCACTGCTTATACACCTCAAACTCATACTTCTTTTGGGATGCCTCCTAGCAGTGCACCTCCTAGTAACAGCGGAGCAGGAATTCTTCCTTCTCCATCCACCCCTCGGTTTCCAACTCCAAGGACTCCAAGGACTCCTCGGACTCCTCGTGGAGCTGGTGGACCTGCTAGTGCTCAAGGTTCAGTCAAATATGAAAATTCAGACTTGTATTCACCAGCTTCTACCCCATCTACATGCAGACCCCTTAATTCTGTTGAACCTGCAACTGTCCCTTCCATCCCTGAAGCACACAGTCTTTATGTAAACCTCATCCTTTCAGAATCAGTTATGAATTTGTTTAAAGACTGTAACTTTGATAGTTGTTGCATCTGTGTTTGCAACATGAACATCAAGGGTGCCGATGTTGGAGTTTACATTCCAGATCCAACGCAGGAAGCACAATATAGGTGTACCTGTGGCTTCAGTGCTGTCATGAACAGAAAATTTGGAAACAATTCAGGATTATTTCTTGAAGATGAACTAGATATCATAGGACGCAATACAGACTGTGGCAAAGAAGCAGAAAAACGTTTTGAAGCTCTCAGGGCTACCTCTGCTGAACATGTTAATGGAGGACTAAAGGAATCTGAAAAATTATCTGATGATTTGATATTATTGCTACAAGATCAGTGCACTAATTTATTTTCACCCTTTGGAGCAGCAGACCAAGATCCTTTTCCTAAAAGTGGTGTAATTAGCAATTGGGTACGTGTTGAAGAGCGTGACTGTTGCAATGACTGCTACCTTGCATTAGAACATGGGCGTCAGTTCATGGATAACATGTCAGGAGGAAAAGTTGATGAAGCACTTGTGAAAAGTTCATGCTTACACCCCTGGTCCAAAAGAAACG___ATGTGAGTATGCAGTGCTCACAGGATATACTTCGAATGCTCCTCTCTCTTCAGCCAGTTCTTCAGGATGCCATTCAGAAAAAAAGAACAGTAAGACCTTGGGGTGTTCAGGGTCCTCTCACTTGGCAACAATTTCATAAAATGGCTGGCCGAGGCTCTTATG___GAACTGATGAATCCCCAGAACCACTGCCAATCCCCACATTTTTGTTGGGTTATGATTATGATTATCTGGTGCTTTCTCCATTTGCTCTTCCTTATTGGGAGAGACTTATGCTGGAACCCTATGGATCTCAAAGAGATATAGCCTATGTTGTACTGTGTCCAGAAAATGAAGCCTTGTTAAATGGAGCAAAAAGCTTTTTTAGAGATCTTACTGCAATATATGAG___TCCTGTCGATTAGGTCAACATAGACCTGTTTCTCGACTGTTAACAGATGGGATCATGAGAGTTGGATCTACTGCATCAAAGAAACTATCAGAAAAGTTGGTAGCAGAATGGTTTTCTCAGGCAGCTGACGGTAACAATGAAGCATTTTCTAAACTCAAGCTTTATGCACAAGTCTGCAGATATGACCTAG___GTCCTTATCTTGCTTCCCTGCCATTGGACAGCTCTCTACTTTCCCAGCCAAATTTAGTTGCCCCTACAAGTCAGTCTTTGATTACTCCACCTCAGATGACAAATACTGGAAATGCTAATACTCCATCTGCCACCTTAGCATCTGCAGCGAGCAGCACTATGACAGTGACTTCAGGTGTTGCCATATCTACTTCAGTTGCCACAGCTAATTCAACTTTGACCACAGCTTCAACTTCATCTTCATCATCCTCCAACTTGAATAGTGGAGTATCATCAAATAAACTACCTTCGTTTCCACCCTTTGGCAGTATGAACAGTAATGCTGCAGGATCCATGTCTACACAAGCAAATACAGTTCAGAGTGGTCAGCTAGGAGGGCAACAGACATCAGCTCTACAGACAGCTGGGATTTCTGGAGAATCATCTTCACTTCCCACTCAGCCGCATCCTGATGTGTCTGAAAG___CACGATGGATCGGGATAAAGTGGGAATCCCCACAGATGGTGATTCACATGCAGTCACGTATCCACCTGCAATTGTTGTTTATATAATTGATCCTTTTACATACGAAAATACAGACGAGAGCACTAACTCTTCTAGTGTGTGGACATTGGGGCTACTTCGATGCTTTCTAGAAATGGTCCAGACTCTTCCTCCTCATATCAAGAGTACTGTTTCTGTACAG___ATTATTCCTTGTCAGTACCTGTTGCAACCTGTGAAGCATGAAGATAGAGAAATCTATCCCCAGCATTTAAAATCCCTGGCTTTTTCGGCCTTTACCCAGTGTCGGAGGCCACTTCCAACATCAACCAATGTGAAAACATTGACTGGCTTTGGTCCAGGTTTAGCCATGGAAACTGCCCTTAGAAGTCCTGAT___AGACCAGAGTGTATTCGACTTTATGCACCTCCTTTTATTCTGGCTCCAGTGAAGGACAAACAGACAGAGCTAGGAGAAACATTTGGAGAAGCTGGACAGAAATATAATGTTCTTTTTGTGGGATACTGTTTATCACATGATCAAAGGTGGATTCTTGCATCTTGCACAGATCTATATGGAGAACTTTTAGAAACTTGTATCATTAACATCGATGTTCCAAATAG___GGCTCGTCGGAAAAAAAGTTCTGCTAGAAAATTTGGTCTACAGAAACTTTGGGAGTGGTGCTTAGGACTTGTACAAATGAGTTCATTGCCATGGAGAGTTGTAATTGGTCGTCTAGGAAGGATTGGTCATGGAGAATTGAAAG___ATTGGAGCTGTTTGCTGAGTCGTCGAAACTTGCAGTCTCTAAGTAAAAGGCTCAAAGACATGTGTAGAATGTGTGGTATATCTGCTGCAGACTCCCCTAGCATTCTCAGTGCTTGCTTGGTGGCAATGGAGCCGCAAGGCTCTTTTGTTATTATGCCAG___ATTCTGTGTCAACTGGTTCTGTATTTGGAAGAAGCACGACTCTAAATATGCAGACATCTCAGCTAAATACCCCACAGGATACATCATGTACTCATATACTTGTGTTTCCTACTTCTGCTTCTGTGCAAGTAGCTTCAGCTACTTATACCACTGAAAATTTGGATTTAGCTTTCAATCCCAACAATG___ATGGAGCAGATGGAATGGGTATCTTTGATTTGTTAGACACAGGAGATGATCTTGACCCTGATATCATTAATATCCTTCCTGCTTCTCCAACTGGTTCTCCTGTACATTCTCCAGGATCTCATTACCCCCATGGAGGTGATGCGGGCAAG___GGTCAGAGTACTGATCGGCTACTATCAACAGAACCTCATGAGGAAGTACCTAATATT)CTTCAGCAACCATTGGCCCTTGGTTACTTTGTATCAACTGCCAAAGCAGGTCCATTACCTGACTGGTTCTGGTCAGCATGTCCTCAAGCACAATATCAGTGTCCCCTTTTTCTTAAG|TTTCATCAGGCTGGGGAGAAATGCCTAATGTTCACTCAAAGACTGAAAACTCTTGGGGAGAACCATCCTCCCCTTCTACCCTGGTGGATAATGGCACAGCAGCATGGGGGAAGCCACCCAGCAGTGGCAGCGGGTGGGGAGATCACCCTGCAGAGCCGCCGGTGGCATTTGGAAGAGCTGGCGCACCTGTTGCTGCCTCAGCCCTGTGCAAACCAG___CTTCAAAATCTATGCAAGAAGGCTGGGGCAGTGGTGG(GGATGAAATGAACCTCAGTACCAGCCAGTGGGAGGATGAAGAAGGGGACGTGTGGAATAATGCTGCTTCCCAAGAAAGCACCTCCTCCTGCAGCTCCTGGGGGAACGCCCCCAAAAAAGGACTTCAAAAG___GGCATGAAGACGTCTGGCAAGCAGGATGAGGCCTGGATCATGAGCCGGCTGATCAAACAACTCACAGACATGGGCTTCCCG___AGAGAGCCAGCTGAGGAGGCCTTGAAGAGTAACAATATGAATCTTGATCAGGCCATGA___GCGCTCTGCTGGAAAAGAAGGTGGACGTGGACAAGCGTGGGCTGGGAGTGACCGACCATAATGGAATGGCCGCCAAGCCCCTCGGCTGCCGCCCGCCAATCTCCAAAGAGTCTTCCGTGGACCGCCCCACCTTTCTTGACAAG___CTCACCCTTTCTTTCTCCAATCAGGATGGCGGCCTCGTGGAAGAGCCCACGCCTTCACCGTTCTTGCCTTCCCCAAGCCTGAAGCTCCCCCTTTCACACAGTGCACTCCCCAGTCAGGCCCTGGGTGGGATTGCCTCCGGGCTGGGCATGCAAAACTTGAATTCTTCTAGACAG___ATACCGAGTGGCAATCTGGGTATGTTTGGCAATAGTGGAGCAGCACAAGCCAGGACCATGCAGCAGCCGCCACAGCCACCAGTGCAGCCTCTTAACTCTTCCCAGCCCAGTCTCCGTGCTCAAGTGCCTCAGTTTCTATCCCCTCAG___GTTCAAGCACAGCTTTTGCAGTTTGCAGCAAAAAACATTGGTCTCAACCCTGCACTATTAACCTCGCCAATTAATCCTCAACATATGACGATGTTGAACCAGCTCTATCAGCTGCAGCTG___GCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAA___GTTGCGCGCACAATCACTAATCTGCAGCAGCAGATCCAGCAGCACCAGCGCCAGCTGGCCCAGGCCCTGCTCGTGAAGCAGCCACCACCGCCACCGCCCCCGCCGCACCTGTCTCTGCACCCCTCTGCAGGCAAATCGGCCATGGACAGCTTCCCCTCGCACCCACAGACTCCCGGCCTACCTGACCTGCAGACCAAAGAGCAGCAGTCTTCACCCAACACCTTTGCTCCTTACCCTCTCG___CTGGACTGAACCCAAACATGAATGTCAACAGCATGGACATGACCGGTGGCTTGTCGGTGAAGGACCCATCCCAGTCCCAGTCACGCCTCCCCCAGTGGACGCACCCCAACTCCATGGATAACTTGCCCAGTGCCGCTTCCCCCCTGGAGCAGAACCCTAGCAAGCATG___GTGCTATCCCTGGAGGTCTAAGCATTGGGCCTCCAGGTAAGTCCTCCATTGATGACTCCTATGGCCGGTACGATTTAATCCAGAACAGTGAGTCACCAGCCAGTCCTCCCGTAGCTGTTCCCCATAGCTGGTCACGTGCCAAATCTGACAGTGATAAAATCTCAAATGGCTCTAGCATCAACTGGCCCCCAG___AATTCCATCCGGGAGTTCCATGGAAAGGACTGCAGAATATTGACCCTGAGAATGACCCTGACGTCACTCCTGGCAGTGTCCCCACTGGGCCTACCATCAACACCACCATCCAGGATGTCAACCGCTACCTCCTCAAGAGTGGAG___GGTCCTCCCCGCCATCATCTCAGAATGCCACGCTGCCTTCTTCGAGTGCCTGGCCACTCAGTGCCTCCGGCTACAGTAGCTCTTTCAGCAGCATTGCATCCGCACCTAGTGTTGCAG___GTAAACTGTCAGACATCAAATCGACGTGGTCCTCTGGCCCTACCTCCCACACGCAAGCCTCTCTGTCTCATGAACTATGGAAGGTGCCCAGAAACAGTACTGCACCCACGAGGCCACCTCCAGGGTTAACCAATCCCAAGCCCTCCTCCACCTGGGGTGCCAGCCCCCTCGGCTGGACCAGCTCCTACTCCTCGG___GTTCTGCCTGGAGCACCGACACCTCAGGAAGAACCAGCAGCTGGCTCGTTCTTCGAAACCTCACTCCCCAG___ATTGATGGTTCTACACTGCGGACATTGTGTTTGCAACATGGGCCTCTTATCACATTCCACCTGAATCTGACTCAAGGCAATGCTGTGGTCCGGTACAGCTCCAAGGAGGAGGCTGCCAAGGCCCAGAAGTCTCTGCACAT___GTGCGTCCTGGGAAACACTACCATCCTGGCCGAGTTCGCTGGTGAAGAAGAAGTGAATCGCTTCTTAGCCCAAGGCCAGGCGCTGCCACCCACTTCCAGCTGGCAGTCCAGCAGCGCGTCCAGCCAGCCGCGGCTCAGCGCAGCGGGCAGCTCCCATGGCCTGGTACGCAGCGACGCTGGCCACTGGAACGCCCCGTGCCTGGGTGGCAAGGGGAGCAGTGAGCTGCTGTGGGGCGGGGTGCCCCAGTACTCCAGCAGCCTGTGGGGCCCGCCCAGCGCCGACGACAGCAGGGTGATAGGCAGCCCCACGCCGCTAACCACCCTGCTGCCTGGGGACCTGCTCAGCGGGGAGTCCCTGTAGGCTCTGCCATCATCAGCACCAGGAGAGCCGACCCCTCCCGGGACCCCTCCCGGCTGGGCGGCCCCACAGACCCGCTGGAACCCAGCAGCGGCCGCCCTTTTGAGTACCTCTGTCCAGGACTGAAGACGAACCTTGGCCGCAGTCCTTGCGAACTGTTCGCAAAACAGTGCGGGCTGCGGTGGGTCAGCGTCACATGCTAATGACAGGATGTTCCTCGTAGCTTTTTATTTTGTGCGTCTTATGTTTGTATAGTGTGTTGTCATTTTGATTTTTTTTTTTTTTTTAAGTATAAAAGCTGCTTAGAATAGTTCTATCATGAAGGGCACTTTTCAGATTGTGGGCTGGAAAGGGTTATTTTATCTGTGGGGGAGGGAGGGAGACGTGAAGCCTATTTAAAATGAGCCTGTGACGATTATGCACATGACCAGAGGCGGCCGGTAATCAGGGCAGAGTCTGGTGTGGACCGCCGGGCGCAGAGCGGCTCCGCGGCGGGAGCTGAGCGGAAGGCGCGGGCTGCGATCTGCTCTCTGTTCCCCTGGATCCGCCTATGCACATTACCCTTGTTTCATTACTTTTTCATGTCATTTTTTTATCCCAAAAAATATTTTTTAAAAGTTAAAAAAAGACATATCAAACATGCAAATACTTGAATCCAGCAGGCCAATAGTGAAATGTGAACACTTTCTAATTCTACACTTCCAGGTTGACATCAGTACACAGAAACAGGCTCTAGGAAAAATTTCTAAGTTCATAGCCTACGTGTGTGTATGTGTGCGTGTTGAAACAGAAGTGTGTGTGTGTGTGCATGTGTGGCGCGTGCTCCTGCACGGCGTGCAGTTTTCTGTGTTTGTGTGTTTGAAAGCGTGTGAGGATTTAACTGTGGGTTTTCCCTTGTATTCAGTATACGCTTTTTTTTTGGCGCATTGGTCAAACGGTTGTTATTATTAGCTTCTAACTTTGCACTGAGTGTCCTCGCCCTTCCTTTAGCTAATCCTATACATTACAGAGAATTCCTAGGACAGGGCTGGCGACAATTCATGTGTAAATGTTTACTCAAGGACTCTGTGACTGCGTTTAAAAAGTACAGTGTATATCTCTGGAGAAATAACATGTATACCTACCTTTAGCAGCTTTTTATTGTGGACTAATGCAAGAAAATTATTACCAGAGTATTGCACCATTTTTCCATTTG)$ MSASFVPNGASLEDCHCNLFCLADLTGIKWKKYVWQGPTSAPILFPVTEEDPILSSFSRCLKADVLGVWRRDQRPGRRELWIFWWGEDPSFADLIHHDLSEEEDGVWENGLSYECRTLLFKAVHNLLERCLMNRNFVRIGKWFVKPYEKDEKPINKSEHLSCSFTFFLHGDSNVCTSVEINQHQPVYLLSEEHITLAQQSNSPFQVILCPFGLNGTLTGQAFKMSDSATKKLIGEWKQFYPISCCLKEMSEEKQEDMDWEDDSLAAVEVLVAGVRMIYPACFVLVPQSDIPTPSPVGSTHCSSSCLGVHQVPASTRDPAMSSVTLTPPTSPEEVQTVDPQSVQKWVKFSSVSDGFNSDSTSHHGGKIPRKLANHVVDRVWQECNMNRAQNKRKYSASSGGLCEEATAAKVASWDFVEATQRTNCSCLRHKNLKSRNAGQQGQAPSLGQQQQILPKHKTNEKQEKSEKPQKRPLTPFHHRVSVSDDVGMDADSASQRLVISAPDSQVRFSNIRTNDVAKTPQMHGTEMANSPQPPPLSPHPCDVVDEGVTKTPSTPQSQHFYQMPTPDPLVPSKPMEDRIDSLSQSFPPQYQEAVEPTVYVGTAVNLEEDEANIAWKYYKFPKKKDVEFLPPQLPSDKFKDDPVGPFGQESVTSVTELMVQCKKPLKVSDELVQQYQIKNQCLSAIASDAEQEPKIDPYAFVEGDEEFLFPDKKDRQNSEREAGKKHKVEDGTSSVTVLSHEEDAMSLFSPSIKQDAPRPTSHARPPSTSLIYDSDLAVSYTDLDNLFNSDEDELTPGSKKSANGSDDKASCKESKTGNLDPLSCISTADLHKMYPTPPSLEQHIMGFSPMNMNNKEYGSMDTTPGGTVLEGNSSSIGAQFKIEVDEGFCSPKPSEIKDFSYVYKPENCQILVGCSMFAPLKTLPSQYLPPIKLPEECIYRQSWTVGKLELLSSGPSMPFIKEGDGSNMDQEYGTAYTPQTHTSFGMPPSSAPPSNSGAGILPSPSTPRFPTPRTPRTPRTPRGAGGPASAQGSVKYENSDLYSPASTPSTCRPLNSVEPATVPSIPEAHSLYVNLILSESVMNLFKDCNFDSCCICVCNMNIKGADVGVYIPDPTQEAQYRCTCGFSAVMNRKFGNNSGLFLEDELDIIGRNTDCGKEAEKRFEALRATSAEHVNGGLKESEKLSDDLILLLQDQCTNLFSPFGAADQDPFPKSGVISNWVRVEERDCCNDCYLALEHGRQFMDNMSGGKVDEALVKSSCLHPWSKRNDVSMQCSQDILRMLLSLQPVLQDAIQKKRTVRPWGVQGPLTWQQFHKMAGRGSYGTDESPEPLPIPTFLLGYDYDYLVLSPFALPYWERLMLEPYGSQRDIAYVVLCPENEALLNGAKSFFRDLTAIYESCRLGQHRPVSRLLTDGIMRVGSTASKKLSEKLVAEWFSQAADGNNEAFSKLKLYAQVCRYDLGPYLASLPLDSSLLSQPNLVAPTSQSLITPPQMTNTGNANTPSATLASAASSTMTVTSGVAISTSVATANSTLTTASTSSSSSSNLNSGVSSNKLPSFPPFGSMNSNAAGSMSTQANTVQSGQLGGQQTSALQTAGISGESSSLPTQPHPDVSESTMDRDKVGIPTDGDSHAVTYPPAIVVYIIDPFTYENTDESTNSSSVWTLGLLRCFLEMVQTLPPHIKSTVSVQIIPCQYLLQPVKHEDREIYPQHLKSLAFSAFTQCRRPLPTSTNVKTLTGFGPGLAMETALRSPDRPECIRLYAPPFILAPVKDKQTELGETFGEAGQKYNVLFVGYCLSHDQRWILASCTDLYGELLETCIINIDVPNRARRKKSSARKFGLQKLWEWCLGLVQMSSLPWRVVIGRLGRIGHGELKDWSCLLSRRNLQSLSKRLKDMCRMCGISAADSPSILSACLVAMEPQGSFVIMPDSVSTGSVFGRSTTLNMQTSQLNTPQDTSCTHILVFPTSASVQVASATYTTENLDLAFNPNNDGADGMGIFDLLDTGDDLDPDIINILPASPTGSPVHSPGSHYPHGGDAGKGQSTDRLLSTEPHEEVPNILQQPLALGYFVSTAKAGPLPDWFWSACPQAQYQCPLFLK|fhqagekclmftqrlktlgenhppllpwwimaqqhggshpavaaggeitlqsrrwhleelahlllpqpcanqlqnlckkagavvgmk* 11BR019 ENSG00000189042.13 ENSG00000167281.19(9669),ENSG00000263278.2(72215) +/+ ./+ chr19:36694876 chr17:79525817 CDS/splice-site intergenic translocation 3 10 1 53 22 high out-of-frame . . . . ENSG00000189042.13 . ENST00000536254.6 . downstream upstream duplicates(1) ^(ACCGAAGGTGAGGCTGGTGGGTCCCGCGGGCGCGGAGAAGGCGGGTGACGGTGTGACCC___)TCTTTAGCTCTCATGGATTGGGAGCTGGGAAAGGAATGAGAAGACAGAAGTCAGAGACAAGAAGAGGCTAACATGACTGATACCACTATAATTTAGT___GAACTGCCTCTTTTCTAAAGAGGACTCCAAAGGAAGGACTGGTCATCTCTTTCATATCTCAAAACCATGGCTCAG|AATTTCAACCTGTCTCTTGTGATAACTGGAAAAATGCTGGAATCCCCCAGCCAGGATGGGAATCGCTGACCTACAGCCTGCGAGGAAAGCCCGAGAAAAGTGGCTGGATTCAGTAGGACGAGCTGGCTGTGGAGACAAGCCACCGCCACCCCCGACGGCCATTGGCTCTGCTGCGGCTCAAAG___GAGAGAGAAGAAAAGCCAGGTCTTTTTGGAAACGCCCATCCTGCCACTGCATATAGAAGATCCACCAGCGTTGAAATCTCAAC MAQ|nfnlslvitgkmlespsqdgnr* 11BR019 ENSG00000100364.18 ENSG00000077935.17 -/- -/- chr22:45240640 chr22:45345569 CDS/splice-site CDS/splice-site duplication 2 12 0 14 26 high out-of-frame . |RecF/RecN/SMC_N_terminal_domain(100%) . . ENSG00000100364.18 ENSG00000077935.17 ENST00000336156.9 ENST00000357450.9 upstream downstream duplicates(2) ^(CTCCCCGCCGCCGCCGCCCCCGAGCCTGCGGGCGGCGCCG)AGGCCGAGGAGCGCTCGCTGCAGCACATGCTGCGTGCCATAGCGGAGGAGCGCGGCCGTCTTAGCCTGCGCCGCGAGGTCTGCGGCCTCG|GTGTCAAGTTACATCAAAGAGCAAACTCAAGACCAGTTTCAGATGATAGTCATCTCCCTAAAAGAAGAGTTCTATTCCAGAGCCGACGCGCTGATCGGCATCTATCCTGAG___TACGATGACTGCATGTTCAGCCGAGTTTTGACCCTAGATCTTTCTCAGTATCCAGACACTGAAGGCCAAGAAAGCAGCAAGAGACAC(GGAGAGTCCCGCTAGGGGCAGTCCTGCAGCAGTCACCTGATCACTGTTCAGTTCCCACTCTAATACTCACACAGCTCCTCCACAGGAGACTTCTGGAGCAAGCAGGACCAGCCTGGTGCACCCTTTAAGAGAAACCTTAGTCGTTCTAGCCAAAGAGGCTGTGGCTCACTTTAGTTGAGTGTTCAGACCTCATTCTAGTAGGGAAAGTTTTCAGTGAGAGCTGGTGTCAAATGAGTTTTTAAAAAACAAACAAAAGGTACAATTTTGTACTATAATTCTAACTTCTATTTTGAAATAAGCTAGTTTGGTTGGAAAAATTTTGAATTCAGCTTCATCTTCACTCTGATCTTGCCTTGCACCCAAGTAATCTTGAAGGGAACTTCTCTTGGTTTTTAAACATACTAGTTATAAGATTGTTAATAAACTGTTGAACCTGGCTTTTGGGAAATTGTTTCAGAGAAACTATGTTAGTATTGAAAATATCAATAAAAAATGTTCTAATTTCAAA)$ MLRAIAEERGRLSLRREVCGL|gvklhqransrpvsddshlpkrrvlfqsrradrhls* 11BR019 ENSG00000230014.1 ENSG00000223808.1(134601),ENSG00000230014.1(167764) +/+ ./+ chr10:9275860 chr10:9108069 exon/splice-site intergenic duplication 7 7 0 44 36 high . . . . . ENSG00000230014.1 . ENST00000458168.1 . downstream upstream . ^CTTCGTTCTTTTTCCTACTCCGGATCAA|CCTTAATAATGCACCCAGGGATGCATGGTGCTGGTGAGAGCTGAAGTGTGCTCTGCAGATTCTGCTCTGGGGATGAGTTGATCTTCATCAAGCAAACAAGTGGGTAAAGGAAGCAGAGAACACTGAATTCTCAACCAGAAGAAAGCAAGTATGCAC . 11BR019 ENSG00000085224.22 ENSG00000165240.20 -/- +/- chrX:77717131 chrX:77921342 CDS/splice-site intron duplication/5'-5' 7 6 0 106 13 high out-of-frame . . . . ENSG00000085224.22 ENSG00000165240.20 ENST00000373344.10 . upstream downstream . ^(CTCGGCCCAACAAAATGGCGGCGGCAGCGGTGTCGCTTTGTTTCCGCGGCTCCTGCGGCGGTGGCAGTGGTAGCGGCCTTTGAGCTGTGGGGAGGTTCCAGCAGCAGCTACAGTGACGACTAAGACTCCAGTGCATTTCTAT)CGTAACCGGGCGCGGGGGAGCGCAGATCGGCGCCCAGCAATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAG___TGAAAGCAAGTTGAATACATTGGTGCAGAAGCTTCATGACTTCCTTGCACACTCATCAGAAGAATCTGAAGAAACAAGTTCTCCTCCACGACTTGCAATGAATCAAAACACAG|GTAAACGGCCTTGAAGATTGAGTAGGAGTTCTCCAGAAGAATGGAAATAAATTTCAGACAAAAGAGCCATGAATAAAGTTACAGAGTTGTCAAACAGCATGCCATATTTAAGGACCACCACTGGTATGGCTGAGGCATATGGCATGAATGGTAACAACAAGGAGATTGTAAAG___TACAAACTGAC MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNT|gkrp* 11BR019 ENSG00000085224.22 ENSG00000248503.2 -/- +/- chrX:77717131 chrX:77921342 CDS/splice-site intron duplication/5'-5' 7 6 0 106 13 high out-of-frame . . . . ENSG00000085224.22 ENSG00000248503.2 ENST00000373344.10 . upstream downstream . ^(CTCGGCCCAACAAAATGGCGGCGGCAGCGGTGTCGCTTTGTTTCCGCGGCTCCTGCGGCGGTGGCAGTGGTAGCGGCCTTTGAGCTGTGGGGAGGTTCCAGCAGCAGCTACAGTGACGACTAAGACTCCAGTGCATTTCTAT)CGTAACCGGGCGCGGGGGAGCGCAGATCGGCGCCCAGCAATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAG___TGAAAGCAAGTTGAATACATTGGTGCAGAAGCTTCATGACTTCCTTGCACACTCATCAGAAGAATCTGAAGAAACAAGTTCTCCTCCACGACTTGCAATGAATCAAAACACAG|GTAAACGGCCTTGAAGATTGAGTAGGAGTTCTCCAGAAGAATGGAAATAAATTTCAGACAAAAGAGCCATGAATAAAGTTACAGAGTTGTCAAACAGCATGCCATATTTAAGGACCACCACTGGTATGGCTGAGGCATATGGCATGAATGGTAACAACAAGGAGATTGTAAAG___TACAAACTGAC MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNT|gkrp* 11BR019 ENSG00000085224.22 ENSG00000102144.15 -/- +/- chrX:77717131 chrX:77921342 CDS/splice-site intron duplication/5'-5' 7 6 0 106 13 high out-of-frame . . . . ENSG00000085224.22 ENSG00000102144.15 ENST00000373344.10 . upstream downstream . ^(CTCGGCCCAACAAAATGGCGGCGGCAGCGGTGTCGCTTTGTTTCCGCGGCTCCTGCGGCGGTGGCAGTGGTAGCGGCCTTTGAGCTGTGGGGAGGTTCCAGCAGCAGCTACAGTGACGACTAAGACTCCAGTGCATTTCTAT)CGTAACCGGGCGCGGGGGAGCGCAGATCGGCGCCCAGCAATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAG___TGAAAGCAAGTTGAATACATTGGTGCAGAAGCTTCATGACTTCCTTGCACACTCATCAGAAGAATCTGAAGAAACAAGTTCTCCTCCACGACTTGCAATGAATCAAAACACAG|GTAAACGGCCTTGAAGATTGAGTAGGAGTTCTCCAGAAGAATGGAAATAAATTTCAGACAAAAGAGCCATGAATAAAGTTACAGAGTTGTCAAACAGCATGCCATATTTAAGGACCACCACTGGTATGGCTGAGGCATATGGCATGAATGGTAACAACAAGGAGATTGTAAAG___TACAAACTGAC MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNT|gkrp* 11BR019 ENSG00000198648.11 ENSG00000198648.11(100887),ENSG00000241074.3(102842) -/- ./- chr2:168063500 chr2:168348482 CDS/splice-site intergenic duplication 9 3 0 94 10 high out-of-frame . Oxidative-stress-responsive_kinase_1_C-terminal_domain(100%),Protein_kinase_domain(100%)| . . ENSG00000198648.11 . ENST00000355999.5 . upstream downstream duplicates(1) ^(GCTCCCTCCCCTCCTAGCTGGCTTCGGCGGGGACGGCGGCGGCGGCGGCGGGCGGGGAGGGCGTGCGCCGGCCGAGAGGTGTCGGCGGCGAGGCAAAGGAAGTTTCAAGTGGAAGGTCGTCCGTCGGCCGGCGCGTCCTCCTGCTCTCCTCCGCAGCATCATGGCGGAGCCGAGCGGCTCGCCCGTGCACGTCCAGCTTCCCCAGCAGGCGGCCCCGGTGACAGCGGCGGCGGCGGCGGCCCCGGCGGCCGCGACAGCAGCGCCGGCCCCGGCAGCTCCCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCGGCACAGGCTGTCGGCTGGCCCATCTGCAGGGACGCGTACGAGCTGCAGGAGGTTATCG___GCAGTGGAGCTACTGCTGTGGTTCAGGCAGCCCTATGCAAACCCAGGCAAGAACGTGTAGCAATAAAACGGATCAACTTGGAAAAATGCCAGACCAGTATGGATGAACTATTA___AAAGAAATTCAAGCCATGAGTCAGTGCAGCCATCCCAACGTAGTGACCTATTACACCTCTTTTGTGGTCAAAGATGAACTTTGGCTGGTCATGAAATTACTAAGTGGAG___GTTCAATGTTGGATATCATAAAATACATTGTCAACCGAGGAGAACACAAGAATGGAGTTCTGGAAGAGGCAATAATAGCAACAATTCTTAAAGAGGTTTTGGAAGGCTTAGACTATCTACACAGAAACGGTCAGATTCACAG___GGATTTGAAAGCTGGTAATATTCTTCTGGGTGAGGATGGTTCAGTACAAATAGCAG___ATTTTGGGGTAAGTGCGTTCCTAGCAACAGGGGGTGATGTTACCCGAAATAAAGTAAGAAAAACATTCGTTGGCACCCCATGTTGGATGGCTCCTGAAGTCATGGAACAG___GTGAGAGGCTATGACTTCAAGGCTGACATGTGGAGTTTTGGAATAACTGCCATTGAATTAGCAACAGGAGCAGCGCCTTATCACAAATATCCTCCCATGAAA___GTGTTAATGTTGACTTTGCAAAATGATCCACCCACTTTGGAAACAGGGGTAGAGGATAAAGAAATGATGAAAAAGTACGGCAAGTCCTTTAGAAAATTACTTTCACTGTGTCTTCAGAAAGATCCTTCCAAAAG___GCCCACAGCAGCAGAACTTTTAAAATGCAAATTCTTCCAGAAAGCCAAG___AACAGAGAGTACCTGATTGAGAAGCTGCTTACAAGAACACCAGACATAGCCCAAAGAGCCAAAAAG___GTAAGAAGAGTTCCTGGGTCAAGTGGTCACCTTCATAAAACCGAAGACGGGGACTGGGAGTGGAGTGACGACGAGATGGATGAGAAGAGCGAAGAAGGGAAAGCAGCTTTTTCTCAGGAAAAG___TCACGAAGAGTAAAAGAAGAAAATCCAGAG___ATT)GCAGTGAGTGCCAGCACCATCCCCGAACAAATACAGTCCCTCTCTGTGCACGACTCTCAG___GGCCCACCCAATGCTAATGAAGACTACAGAGAAGCTTCTTCTTGTGCCGTGAACCTCGTTTTGAGATTAAG|GTGTATGGTCAACTAAACAATCCAAAAACCATGTAGCTCCACAATAATCAGAAATTCTGGATCCAGTAAAACAAGTCTCCTTTAAGACATGGCTGAATGCTGGAAGAAAGTAAAGAAAGTcCCTGGAGTCAAAaATGAAGTGAGAAGGAAAAATC MAEPSGSPVHVQLPQQAAPVTAAAAAAPAAATAAPAPAAPAAPAPAPAPAAQAVGWPICRDAYELQEVIGSGATAVVQAALCKPRQERVAIKRINLEKCQTSMDELLKEIQAMSQCSHPNVVTYYTSFVVKDELWLVMKLLSGGSMLDIIKYIVNRGEHKNGVLEEAIIATILKEVLEGLDYLHRNGQIHRDLKAGNILLGEDGSVQIADFGVSAFLATGGDVTRNKVRKTFVGTPCWMAPEVMEQVRGYDFKADMWSFGITAIELATGAAPYHKYPPMKVLMLTLQNDPPTLETGVEDKEMMKKYGKSFRKLLSLCLQKDPSKRPTAAELLKCKFFQKAKNREYLIEKLLTRTPDIAQRAKKVRRVPGSSGHLHKTEDGDWEWSDDEMDEKSEEGKAAFSQEKSRRVKEENPEIAVSASTIPEQIQSLSVHDSQGPPNANEDYREASSCAVNLVLRLr|cmvn* 11BR019 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 2 0 116 41 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCA)AAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR019 ENSG00000085224.22 ENSG00000102158.19 -/- -/- chrX:77717131 chrX:77875597 CDS/splice-site CDS/splice-site duplication 4 7 0 106 207 high out-of-frame . |OST3_/_OST6_family__transporter_family(100%) . . ENSG00000085224.22 ENSG00000102158.19 ENST00000373344.10 ENST00000358075.10 upstream downstream . ^(CTCGGCCCAACAAAATGGCGGCGGCAGCGGTGTCGCTTTGTTTCCGCGGCTCCTGCGGCGGTGGCAGTGGTAGCGGCCTTTGAGCTGTGGGGAGGTTCCAGCAGCAGCTACAGTGACGACTAAGACTCCAGTGCATTTCTATCGTAACCGGGCGC)GGGGGAGCGCAGATCGGCGCCCAGCAATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAG___TGAAAGCAAGTTGAATACATTGGTGCAGAAGCTTCATGACTTCCTTGCACACTCATCAGAAGAATCTGAAGAAACAAGTTCTCCTCCACGACTTGCAATGAATCAAAACACAG|ATGGTGTTATCTGAAAAGGTTAGTCAGCTGATGGAATGGACTAACAAAAGACCTGTAATAAGAATGAATGGAGACAAGTTCCGTCGCCTTGTGAAAGCCCCACCGAGAAATTACTCCGTTATCGTCATGTTCACTGCTCTCCAACTGCATAGACAGTGTGTCGTTTGCAA___GCAAGCTGATGAAGAATTCCAGATCCTGGCAAACTCCTGGCGATACTCCAGTGCATTCACCAACA(GGATATTTTTTGCCATGGTGGATTTTGATGAAGGCTCTGATGTATTTCAGATG___CTAAACATGAATTCAGCTCCAACTTTCATCAACTTTCCTGCAAAAGGGAAACCCAAACGGGGTGATACATATGAGTTACAGGTGCGGGGTTTTTCAGCTGAGCAGATTGCCCGGTGGATCGCCGACAGAACTGATGTCAAT___ATTAGAGTGATTAGACCCCCAAATTATGCTGGTCCCCTTATGTTGGGATTGCTTTTGGCTGTTATTGGTGGACTTGTGTATCTTCGAAGAAGTAATATGGAATTTCTCTTTAATAAAACTGGATGGGCTTTTGCAGCTTTG___TGTTTTGTGCTTGCTATGACATCTGGTCAAATGTGGAACCATATAAGAGGACCACCATATGCCCATAAGAATCCCCACACGGGACATGTG___AATTATATCCATGGAAGCAGTCAAGCCCAGTTTGTAGCTGAAACACACATTGTTCTTCTGTTTA___ATGGTGGAGTTACCTTAGGAATGGTGCTTTTATGTGAAGCTGCTACCTCTGACATGGATATTGGAAAGCGAAAGA___TAATGTGTGTGGCTGGTATTGGACTTGTTGTATTATTCTTCAGTTGGATGCTCTCTATTTTTAGATCTAAATATCATGGCTACCCATACAG___CTTTCTGATGAGTTAAAAAGGTCCCAGAGATATATAGACACTGGAGTACTGGAAATTGAAAAACGAAAATCGTGTGTGTTTGAAAAGAAGAATGCAACTTGTATATTTTGTATTACCTCTTTTTTTCAAGTGATTTAAATAGTTAATCATTTAACCAAAGAAGATGTGTAGTGCCTTAACAAGCAATCCTCTGTCAAAATCTGAGGTATTTGAAAATAATTATCCTCTTAACCTTCTCTTCCCAGTGAACTTTATGGAACATTTAATTTAGTACAATTAAGTATATTATAAAAATTGTAAAACTACTACTTTGTTTTAGTTAGAACAAAGCTCAAAACTACTTTAGTTAACTTGGTCATCTGATTTTATATTGCCTTATCCAAAGATGGGGAAAGTAAGTCCTGACCAGGTGTTCCCACATATGCCTGTTACAGATAACTACATTAGGAATTCATTCTTAGCTTCTTCATCTTTGTGTGGATGTGTATACTTTACGCATCTTTCCTTTTGAGTAGAGAAATTATGTGTGTCATGTGGTCTTCTGAAAATGGAACACCATTCTTCAGAGCACACGTCTAGCCCTCAGCAAGACAGTTGTTTCTCCTCCTCCTTGCATATTTCCTACTGAAATACAGTGCTGTCTATGATTGTTTTTGTTTTGTTGTTTTTTTGAGACGGTCTCGCTGTGTCACACAGGCTGGAGTGCAGTGGCGTGAGCTCGGCTGACTGCAAACTCTGCCTCCCAGGTTTAAGCGATTCTCCTGTCACAGCTTCCCAAGTAGCTGGGATTTACAGGTGTGCACCGCCATGCCAGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCAAGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCGCCCGCCTCAGTCTCCCAAAGTGCGAGGATGACATGTGTGAGCTACCACACCAGCAATGTCTATGCTTCTCGATAGCTGTGAACATGAAAAGACATCTATTGGGAGTCCGAGGCAGGTGGATTGCTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCAACAAGGCAAAACCCCGTCTCTACTAAAAATATGAAAATTAGCTGGGCTTGGTGGCTCATGCCTATAATCCTAGCTACTTGGGAGGCTGAGGCACGAGACTTGCTTAATACCTGGGAGGCGGAGATTGCAGTGAGCCGAGATCACGCTACTGCGCTCCAGCCTGAGTGATAGAGTGAGACTCTGTCTCAAAAAAAAGTATCTCTAAATACAGGATTATAATTTCTGCTTGAGTATGGTGTTAACTACCTTGTATTTAGAAAGATTTCAGATTCATTCCATCTCCTTAGTTTTCTTTTAAGGTGACCCATCTGTGATAAAAATATAGCTTAGTGCTAAAATCAGTGTAACTTATACATGGCCTAAAATGTTTCTACAAATTAGAGTTTGTCACTTATTCCATTTGTACCTAAGAGAAAAATAGGCTCAGTTAGAAAAGGACTCCCTGGCCAGGCGCAGTGACTTACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGCAGGAGCCTGTAATCCCAGCTACACAGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGATGGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGTAAGAAAGAAAAGGACTCCCTTAGAATGGGAAAGAAAAATCATAAAATATTGAGCTGATGCCTGTATATAGAAATTAAGCGTTTCTCGAAAGCTGTTCTATGTTTTGCTGTTATTTTAGTCTTTATTCTCTTCCTTTAGGTGGAGAAACAAAGTACCAATTTGAAGGGATTTTTTTTATTTTGTCTTTTGGTTTCTGTCAGTAGAAATAACCATATGTGCTAACCAAATTTCTGTGAAGAATGTTTTCATGGTTATCATTATATCTAACTATAACCTCCCCCATAGTTATGAAGAGTAACCTGAAATGCCACTATTGTGGAAATAGGATAATTGTAATTGTGAAAAAATAATTTTAAGGAAATCTTACAAGTATTACATTAAAAAGATACTATGACTGCCACCTGCCATTTACCTTCTAATAACCCTGCCATGTGGTTTGCAGAAAGAGATGGATATAGTAGCCTCAGAAGAAATATTTTATGTGGGTTTTTTGTTTTTCGTTACTAGATTTCATGGATGAGGGGATATGGTTGACCTTTTACTTTTTAATGGAGCAGCCAGTTTTTGTTAATTACTCACTTGTAAATTGTGAGATTCTGAATTCCTTACCTGCTATTCTTGTACTTGTCTCAGGCCAAATCTATGCTGTGGTTCTTATGAGACTTGTATGAAGATGCCCTGATTTGTACAGATTGACCACGGGAATACTACTGCCATGTAATCTGTATAGTTCCAGATAATTTGTCATGAACATTGACAGAATGACAATTTTTTGTATTTGCTTTTTCTCCCTTTAAGAGCACATTCTTCTGTAAGGAGAAAGGCAGCATTCTGGCTAAAATGTGTAGAAGGTAATTTACTACACTTATAAAATAGTGTGACTTTTGTGAAAATTTTGAATTAGCTTTCATATGAAGTGCCTTAAGTAGACTCTTCATTTACTTTTCTGGTAATGGTTTAAATATCATTTGTTATGCATTTTTAAGATACAGTTCAGAATGACACATTGTAGTGGCAAAGATAACCAAATGTCTGGCTGTTTGCTTTTTGACCATATCAATAAACTTTTACAATCTAAA)$ MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNT|dgvi* 11BR019 ENSG00000083307.12 ENSG00000228224.3 +/+ +/+ chr8:101599151 chr8:101367623 CDS/splice-site exon/splice-site duplication 4 5 0 56 9 high out-of-frame . . . . ENSG00000083307.12 ENSG00000228224.3 ENST00000646743.1 ENST00000419462.1 downstream upstream duplicates(1) ^(GAGAAAGTTACCTGTGGCCGCCCAAGTCCGCCACTTTCTGCTCTGTGTCTGCCCATTGCCACGATCCAGGAGGACTCCGCGCCGCCCGGCCGCCTCCGAGCTCGGGCCCCATGTGAGGGGCCCCCCCTTATCCCACCTTTCCGGCTAGGTGAGGGCGCGAGCGGGCGAGCGAGCGAGAGTGGTGAGGGGGGACGGAAAAGCAGAATTACCTGTAGCTCTTGTTCTGCCATCTCGGGCGCTCTCACACACCTTCACCTGCACAGACTTGAAAGTCCAGTTTCACCAGAGGCTGAGGCTCCAGGAAAAGCGGAGCAAGTTCATTGGATCAAACATGTCACAAGAGTCGGACAA___TAATAAAAGACTAGTGGCCTTAGTGCCCATGCCCAGTGACCCTCCATTCAATACCCGAAGAGCCTACACCAGTGAGGATGAAGCCTGGAAGTCATACTTGGAGAATCCCCTGACAGCAGCCACCAAGGCCATGATGAGCATTAATGGTGATGAGGACAGTGCTGCTGCCCTCGGCCTGCTCTATGACTACTACAAG___GTTCCTCGAGACAAGAGGCTGCTGTCTGTAAGCAAAGCAAGTGACAGCCAAGAAGACCAGGAGAAAAG___AAACTGCCTTGGCACCAGTGAAGCCCAGAGTAATTTGAGTGGAGGAGAAAACCGAGTGCAAGTCCTAAAGACTGTTCCAGTGAACCTTTCCCTAAATCAAGATCACCTGGAGAATTCCAAGCGGGAACAGTACAGCATCAGCTTCCCCGAGAGCTCTGCCATCATCCCGGTGTCGGGAATCACGGTGGTGAAAGCTGAAGATTTCACACCAGTTTTCATGGCCCCACCTGTGCACTATCCCCGGGGAGATGGGGAAGAGCAACGAGTGGTTATCTTTGAACAGACTCAGTATGACGTGCCCTCGCTGGCCACCCACAGCGCCTATCTCAAAGACGACCAGCGCAGCACTCCGGACAGCACATACAGCGAGAGCTTCAAGGACGCAGCCACAGAG___AAATTTCGGAGTGCTTCAGTTGGGGCTGAGGAGTACATGTATGATCAGACATCAAG___TGGCACATTTCAGTACACCCTGGAAGCCACCAAATCTCTCCGTCAGAAGCAGGGGGAGGGCCCCATGACCTACCTCAACAAAGGACAGTTCTATGCCATAACACTCAGCGAGACCGGAGACAACAAATGCTTCCGACACCCCAT)CAGCAAAGTCAGG___AGTGTGGTGATGGTGGTCTTCAGTGAAGACAAAAACAGAGATGAACAGCTCAAATACTGGAAATACTGGCACTCTCGGCAGCATACGGCGAAGCAGAGGGTCCTTGACATTG___CCGATTACAAGGAGAGCTTTAATACGATTGGAAACATTGAAGAGATTGCATATAATGCTGTTTCCTTTACCTGGGACGTGAATGAAGAGGCGAAG|GTCAAAACATCCCTGCATGTCAGGTGTGCTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAACTATGATCACACCACCGGACTCCAGCCTGGGTGACAAG___ATTCCCACAAAGGCTGTCCTGGAAATTCACCAACATCACCGCTAAAATGTCT(AACCACATTGTCAACTGTGCTGCCTGGTCAAGGACTGAGGACCTGTCTCAGAGTGATCTTCCTTAATCACAGATCTAGTCATGACCTGGTTTTGCTCAAAATGTTTCAATGGCTCCCGATTGCCT)$ MSQESDNNKRLVALVPMPSDPPFNTRRAYTSEDEAWKSYLENPLTAATKAMMSINGDEDSAAALGLLYDYYKVPRDKRLLSVSKASDSQEDQEKRNCLGTSEAQSNLSGGENRVQVLKTVPVNLSLNQDHLENSKREQYSISFPESSAIIPVSGITVVKAEDFTPVFMAPPVHYPRGDGEEQRVVIFEQTQYDVPSLATHSAYLKDDQRSTPDSTYSESFKDAATEKFRSASVGAEEYMYDQTSSGTFQYTLEATKSLRQKQGEGPMTYLNKGQFYAITLSETGDNKCFRHPISKVRSVVMVVFSEDKNRDEQLKYWKYWHSRQHTAKQRVLDIADYKESFNTIGNIEEIAYNAVSFTWDVNEEAK|vktslhvrcagacl* 11BR019 ENSG00000147485.13 ENSG00000168300.14 -/- -/- chr8:51654689 chr8:51820718 CDS/splice-site CDS/splice-site duplication 4 4 1 131 208 high out-of-frame . Leucine_rich_repeat(100%)| . . ENSG00000147485.13 ENSG00000168300.14 ENST00000356297.5 ENST00000544451.2 upstream downstream duplicates(1),mismappers(1) ^(AGTCCAGCAGCCACCATCACCACCACTGCGGTTGCTGCTGCAGCTGCAGCTGCTGCTCTCCCTCCGGCTGCTTCTTCGCGTGGCCAGCAGCGAATGGAGCGATGGAGCCCAGACTGTTCTGCTGGACCACTCTCTTTCTCCTGGCCGGGTGGTGCCTGCCAGGGTTGCCCTGCCCCAG)CCGGTGCCTTTGCTTTAAGAGCACCGTCCGCTGCATGCACTTGATGCTGGACCACATTCCTCAGGTACCACAGCAGACCACAGTTCT___AGACTTGAGGTTTAACAGAATAAGAGAAATTCCAGGGAGCGCCTTCAAGAAACTCAAGAATTTGAACACACT|CTCCCTGTGCTGTCAGGAATCTACAGGACTTGGCTCGTATTTACATTCGACGCACACTTAGAAATTTCATAAATGATGAGATGCAGGCCAAGGGGATTCCTCAAAGGGCTCCACCCAAAAGGAAAAGAAAGAGAGTTAAACAGAGAATTAACACTTACGTATTTGTGGGTAATCAGCTTATTCCTCAGCCTCTAGACAGTGAAGAGGATGAAAAAATGGAAGAGGATAtCAAAGAAGAGGAGGAAAAAGATCACAATGAAGCAATGAAGCCAGAGGAGCCAC(CTCAAAATTTACTGAGAGAAAAAATCATGAAGCTGCCCCTCCCTGAATCTTTAAAAGCTTACTTGACATATTTTAGAGACAAATAACTTAGATCAAGAAGAAAAATGCCTACTGATAATTCCTTTAGTCTTGAAAATGTAGCATTTGTTAGGAGTTAAAAGAGAGAATTATTTCTTTCATCAGAGCAAATTATAGTGGAAAAAAAATCACTTGTTTCTGTCAGTAACACAAATGATGTATTCAGTGAATAAAAGAATCCCTTTTATAAAATCTATTTTTCTTTAAATCTTGGAAAAATGTTGTTTTAGCTCAGAGTGATTTCAAAGTGGAATGCAACAGTAGTCAAGACTTGTGTACTATAAATCCTTTTCTGATTCCTTACAGATTTGTAGTGATGAGGTTTAGATTTAATTTTATATATGGTTTAAATAATTGTTAAGCTTATATAACCTGATCTGAATTGCAGTTGTTTGCATTTCCTCTATGAAAACTTCATTTATCTAATAAGGAAGTCAAATGCTTTGTAGACTATTTACCTTACTTTTGTTGCAATCACTGTTGTTGGGTTGCTGTATATATATTCCGGGCAATATATGAGTGCAATAACAATACAAGATATTGAATAATTTAGCTTTAAAAAATCCCACAAATTTTATGAAATTTTACAGCCCTGCTACTTTTGCTTTTGAATCTCTTGCCAAAAGACATGGGTAAAATATCTGCCTCTCTCATAGAGATTTTAAGAGCACAGCAAGTGAATTATTAAAACAAAGTCTATACTTAATACAACTCTTTATATGGACCCTTTACATTTTCAGTATTTAAAAAAATGAGGTTATCTTAACTCTATAGAATTTTAAAAGTATATTTAGAATTGTTTTTTCTGTAGTTCACTGTATAAAGTATTTGGTTTTTTAAAAAAAGCAAAACCATTGTTATGTGTGACTCTTGATAGGACACAGAACGAGTGAATGAGCATGAGTGAGGCCACTTTCTTGGATGGCTGTAAGTAGCAGGGCCAGGGTAGACCTGGTCAGCGGATGCACTTTAGCAGATGGAACTTCTAGTTTATCTGAATATTTATCTTTGACAAGGTAGGGCTGAGCCTACATTTGCTTTTGATCTATCTAGTATAAGAAATATTCACAGAAATTGTATGTAGATACCCTTTGTTTTGAAAATGCTGTTCAGAATCATAGTGTAATCTTTGGGACCTATGCCATGTTCATTTCACTCCTTCCCATATTTTTTGTGTTTCTTTTGGTAAAACTATAATGGTTTTCATTTTTTACTTAATATCACACAGTTAAACTGTCCATATTTGAGCTTTATTTTAGCTTATCAGTGATAAAAAACAGGTAGTAACTGCCATTGTTTGTTTGTTTTCCTAATAAGGCCTGAAAACAGCCATTCCTTGTTAAGAAAGTGTACAATGTAACATATTTGCTAGAGTTACATGGATTATATATTTCTTAAAGGGAAAAATTTGAGAGTATCATGGACTACCACCAGCATTATTATTACAGTAGTTACTCAGATTTGGTTAAGGAAGCCCAAGCAATGTATAGTGAAAGGATTATTATCTCTCTGCTAAGATTCAGATATTGTTTCAGAAATCTCAGCTCCAGTAATTCCACAACATCTAAAAACAAATGTTTGTGATCATGTGTAAGCATGAAATTGTTCCAAGTAAGTGAGGATATTTTAGTTATGTGAAAGACAGTTTCATGGAAGGTATTTGTTTTATACCAGTGGCTGGGATGGTGGAATTGGGGTTATTTCTACAATTATTCTTAGACGATTACTAAACTGTTAAGAAATGCCCCATATCATTTTTGTATCTAGGAAAGAAAAAAATCAGTTTCATACTGTTGTCATCTGTCAGAAATGCTCATTTTATTTTGAATTAAATGTGGCTTTTGAAGTACCTAGTTACCTTGAATTCCTGGTGACCACATGTTTTTATCTGGAAAACCTGGAGAAAGTTATCTGTCCCATCTCCCCTGCTTGTTTTTTTTTTTTTTTTTGGTTGGAGCTGCTGTTTAGATGATGCTTTTACTATGCAGGAGAGAGTTTTTGTTAAGGATATATTTGAAGATTGGCTTTTCCATATTGTCCTTCATTCTTTGACCATGGCAAAGTGTACAGTAGATTTTCATGATCATTGCATATTTCTTGTCATTGAAATGTATCTTTTATGTTTTTAAATGCATTCATTTTACACTTGTGAGTTTATCATTGACTTTAAGAGGTAGAAATGAAAAATGAAAATTAAAGCTAAAGCCTTTTTATCTATTAATGCAGATATATTAGAATAAGAATATTTTGGGTTTGTGTTTATTTTTTAATGAATTTATGTTTACTTGATATGGAAAATTACGCTTTATAGGTGGAAAAGTAGCAAATAAAGATTAAGTAAAAGTAAGTGAAAATGATGGGGAATATAGTATTGGAATTTTATAGCTAGTTAAAACAGTAAGTATCATCTAATTTGGGTGTTTATTTTGCAGATGAGAAAACAGACCTAGAACCGTGGCATGTTTTGCCTGAAACATACAGTGAGTTAGAGACAGGGCCTAAGATAGCTTCTAGCATCAGATCAATCCCAAGAATCCATCAGCAACCTCAGACCAACCCAAGAAGATAATTTAAATCTATACTGCTTATTGGTCAATATATTTGGTTCTAGTATTAATAAAGAAAAATGTTATTAAAATAGCATACATAGTAGTAAAATAAAATACAAAAAGTGTGTTGATTTATAGCTGTTTGAGATGATAAAAGTGAAGCAAAGCCTGTTAAATCATTGGAAGACTTGGAAAATTATTTTAAATAAACAATTACATGTAATTAAGCATTTTT)$ MEPRLFCWTTLFLLAGWCLPGLPCPSRCLCFKSTVRCMHLMLDHIPQVPQQTTVLDLRFNRIREIPGSAFKKLKNLNTl|slccqestglgsylhstht* 11BR019 ENSG00000147485.13 ENSG00000168300.14 -/- -/- chr8:51592627 chr8:51820718 CDS/splice-site CDS/splice-site duplication 1 0 1 119 208 medium out-of-frame . Leucine_rich_repeat(100%)| . . ENSG00000147485.13 ENSG00000168300.14 ENST00000356297.5 ENST00000544451.2 upstream downstream . ^(AGTCCAGCAGCCACCATCACCACCACTGCGGTTGCTGCTGCAGCTGCAGCTGCTGCTCTCCCTCCGGCTGCTTCTTCGCGTGGCCAGCAGCGAATGGAGCGATGGAGCCCAGACTGTTCTGCTGGACCACTCTCTTTCTCCTGGCCGGGTGGTGCCTGCCAGGGTTGCCCTGCCCCAGCCGGTGCCTTTGCTTTAAGAGCACCGTCCGCTGCATGCACTTGATGCTGGACCACATTCCTCAGGTACCACAGCAGACCACAGTTCT___AGACTTGAGGTTTAACAGAATAAGAGAAATTCCAGGGAGCGCCTTCAAGAAACTCAAGAATTTGA)ACACACT___TCTGCTGAACAACAACCACATCAGAAAGATTTCCAGAAATGCTTTTGAAGGACTTGAAAATTTGCTATATCT|CTCCCTGTGCTGTCAGGAATCTACAG(GACTTGGCTCGTATTTACATTCGACGCACACTTAGAAATTTCATAAATGATGAGATGCAGGCCAAGGGGATTCCTCAAAGGGCTCCACCCAAAAGGAAAAGAAAGAGAGTTAAACAGAGAATTAACACTTACGTATTTGTGGGTAATCAGCTTATTCCTCAGCCTCTAGACAGTGAAGAGGATGAAAAAATGGAAGAGGATAACAAAGAAGAGGAGGAAAAAGATCACAATGAAGCAATGAAGCCAGAGGAGCCACCTCAAAATTTACTGAGAGAAAAAATCATGAAGCTGCCCCTCCCTGAATCTTTAAAAGCTTACTTGACATATTTTAGAGACAAATAACTTAGATCAAGAAGAAAAATGCCTACTGATAATTCCTTTAGTCTTGAAAATGTAGCATTTGTTAGGAGTTAAAAGAGAGAATTATTTCTTTCATCAGAGCAAATTATAGTGGAAAAAAAATCACTTGTTTCTGTCAGTAACACAAATGATGTATTCAGTGAATAAAAGAATCCCTTTTATAAAATCTATTTTTCTTTAAATCTTGGAAAAATGTTGTTTTAGCTCAGAGTGATTTCAAAGTGGAATGCAACAGTAGTCAAGACTTGTGTACTATAAATCCTTTTCTGATTCCTTACAGATTTGTAGTGATGAGGTTTAGATTTAATTTTATATATGGTTTAAATAATTGTTAAGCTTATATAACCTGATCTGAATTGCAGTTGTTTGCATTTCCTCTATGAAAACTTCATTTATCTAATAAGGAAGTCAAATGCTTTGTAGACTATTTACCTTACTTTTGTTGCAATCACTGTTGTTGGGTTGCTGTATATATATTCCGGGCAATATATGAGTGCAATAACAATACAAGATATTGAATAATTTAGCTTTAAAAAATCCCACAAATTTTATGAAATTTTACAGCCCTGCTACTTTTGCTTTTGAATCTCTTGCCAAAAGACATGGGTAAAATATCTGCCTCTCTCATAGAGATTTTAAGAGCACAGCAAGTGAATTATTAAAACAAAGTCTATACTTAATACAACTCTTTATATGGACCCTTTACATTTTCAGTATTTAAAAAAATGAGGTTATCTTAACTCTATAGAATTTTAAAAGTATATTTAGAATTGTTTTTTCTGTAGTTCACTGTATAAAGTATTTGGTTTTTTAAAAAAAGCAAAACCATTGTTATGTGTGACTCTTGATAGGACACAGAACGAGTGAATGAGCATGAGTGAGGCCACTTTCTTGGATGGCTGTAAGTAGCAGGGCCAGGGTAGACCTGGTCAGCGGATGCACTTTAGCAGATGGAACTTCTAGTTTATCTGAATATTTATCTTTGACAAGGTAGGGCTGAGCCTACATTTGCTTTTGATCTATCTAGTATAAGAAATATTCACAGAAATTGTATGTAGATACCCTTTGTTTTGAAAATGCTGTTCAGAATCATAGTGTAATCTTTGGGACCTATGCCATGTTCATTTCACTCCTTCCCATATTTTTTGTGTTTCTTTTGGTAAAACTATAATGGTTTTCATTTTTTACTTAATATCACACAGTTAAACTGTCCATATTTGAGCTTTATTTTAGCTTATCAGTGATAAAAAACAGGTAGTAACTGCCATTGTTTGTTTGTTTTCCTAATAAGGCCTGAAAACAGCCATTCCTTGTTAAGAAAGTGTACAATGTAACATATTTGCTAGAGTTACATGGATTATATATTTCTTAAAGGGAAAAATTTGAGAGTATCATGGACTACCACCAGCATTATTATTACAGTAGTTACTCAGATTTGGTTAAGGAAGCCCAAGCAATGTATAGTGAAAGGATTATTATCTCTCTGCTAAGATTCAGATATTGTTTCAGAAATCTCAGCTCCAGTAATTCCACAACATCTAAAAACAAATGTTTGTGATCATGTGTAAGCATGAAATTGTTCCAAGTAAGTGAGGATATTTTAGTTATGTGAAAGACAGTTTCATGGAAGGTATTTGTTTTATACCAGTGGCTGGGATGGTGGAATTGGGGTTATTTCTACAATTATTCTTAGACGATTACTAAACTGTTAAGAAATGCCCCATATCATTTTTGTATCTAGGAAAGAAAAAAATCAGTTTCATACTGTTGTCATCTGTCAGAAATGCTCATTTTATTTTGAATTAAATGTGGCTTTTGAAGTACCTAGTTACCTTGAATTCCTGGTGACCACATGTTTTTATCTGGAAAACCTGGAGAAAGTTATCTGTCCCATCTCCCCTGCTTGTTTTTTTTTTTTTTTTTGGTTGGAGCTGCTGTTTAGATGATGCTTTTACTATGCAGGAGAGAGTTTTTGTTAAGGATATATTTGAAGATTGGCTTTTCCATATTGTCCTTCATTCTTTGACCATGGCAAAGTGTACAGTAGATTTTCATGATCATTGCATATTTCTTGTCATTGAAATGTATCTTTTATGTTTTTAAATGCATTCATTTTACACTTGTGAGTTTATCATTGACTTTAAGAGGTAGAAATGAAAAATGAAAATTAAAGCTAAAGCCTTTTTATCTATTAATGCAGATATATTAGAATAAGAATATTTTGGGTTTGTGTTTATTTTTTAATGAATTTATGTTTACTTGATATGGAAAATTACGCTTTATAGGTGGAAAAGTAGCAAATAAAGATTAAGTAAAAGTAAGTGAAAATGATGGGGAATATAGTATTGGAATTTTATAGCTAGTTAAAACAGTAAGTATCATCTAATTTGGGTGTTTATTTTGCAGATGAGAAAACAGACCTAGAACCGTGGCATGTTTTGCCTGAAACATACAGTGAGTTAGAGACAGGGCCTAAGATAGCTTCTAGCATCAGATCAATCCCAAGAATCCATCAGCAACCTCAGACCAACCCAAGAAGATAATTTAAATCTATACTGCTTATTGGTCAATATATTTGGTTCTAGTATTAATAAAGAAAAATGTTATTAAAATAGCATACATAGTAGTAAAATAAAATACAAAAAGTGTGTTGATTTATAGCTGTTTGAGATGATAAAAGTGAAGCAAAGCCTGTTAAATCATTGGAAGACTTGGAAAATTATTTTAAATAAACAATTACATGTAATTAAGCATTTTT)$ MEPRLFCWTTLFLLAGWCLPGLPCPSRCLCFKSTVRCMHLMLDHIPQVPQQTTVLDLRFNRIREIPGSAFKKLKNLNTLLLNNNHIRKISRNAFEGLENLLYl|slccqestglgsylhstht* 11BR019 ENSG00000141568.21 ENSG00000267551.3 +/+ -/- chr17:82587272 chr19:3143193 CDS/splice-site exon/splice-site translocation 2 5 1 67 29 high out-of-frame . FHA_domain(100%),Forkhead_domain(100%)| . . ENSG00000141568.21 ENSG00000267551.3 ENST00000335255.10 ENST00000587587.1 downstream downstream . ^(GCCCCTCGCCGCCGCTCGCTCGCTCGCCGGCCGGCGGCCTCCGCTCGGCCCCCTCCCTCAGCTCCGGTGCGCGGCGGCCGACGACCCGCGCGGCCTGGGCCTCGGCCCGCGCCACCGGCGCCCGCGCGGAGCGGCCCGGGGGCCCTCACGCAGGCCCATGGCGGCGGCCGCGGCGGCGCTCTCGGGCGCGGGCACGCCACCCGCGGGCGGCGGGGCCGGGGGCGGCGGGGCCGGGGGCGGCGGGTCCCCGCCGGGCGGCTGGGCCGTGGCGCGCCTGGAGGGCCGCGAGTTCGAGTATCTGATGAAGAAGCGCTCGGTGACCATCGGCCGCAACTCGTCGCAGGGCTCGGTGGACGTGAGCATGGGCCACTCGAGCTTCATCTCCCGGCGCCACCTCGAGATCTTCACGCCCCCGGGCGGCGGCGGCCATGGCGGGGCCGCTCCGGAGCTGCCGCCCGCGCAGCCCAGGCCCGACGCCGGCGGCGACTTCTACCTGCGCTGCTTGGGCAAGAACGGGGTATTCGTGGACGGCGTGTTCCAGAGGCGCGGGGCGCCGCCGCTGCAGCTGCCGCGCGT___GTGCACATTCAGGTTCCCGAGCACAAACATCAAGATAACGTTCACTGCCCTGTCCAGCGAGAAGAGAGAGAAGCAGGAGGCGTCTGAGTCTCCAGTGAAGGCCGTACAGCCACACATCTCGCCCCTGACCATCAACATTCCAGACACCATGGCCCACCTCATCAGCCCTCTGCCCTCCCCCACGGGAACCATCAG___CGCTGCAAACTCCTGCCCCTCCAGCCCCCGGGGAGCGGGGTCTTCAGGGTACAAGGTGGGCCGAGTGATGCCATCTGACCTCAATTTAATGGCTGACAACTCACAGCCTGAAAATGAAAAGGAAGCTTCAGGTGGAGACAGCCCGAAG___GATGATTCAAAGCCGCCTTACTCCTACGCGCAGCTGATAGTTCAGGCGATTACGATGGCTCCCGACAAACAGCTCACCCTGAACGGGATTTATACACACATCACTAAAAATTATCCCTACTACAGGACTGCGGACAAGGGCTGGCAG___AATTCAATTCGCCACAATCTCTCTCTGAATCGTTATTTCATCAAAGTGCCGCGTTCCCAGGAAGAACCAGGCAAAGGCTCGTTCTGGAGGATAGACCCAGCCTCTGAAAGCAAATTAATAGAACAGGCTTTTAGGAAACGACGGCCTAGGGGCGTGCCCTGCTTTAGAACCCCTCTGGGACCGCTCTCTTCTAG___GAGTGCCCCAGCCTCTCCCAATCACGCGGGAGTGCTGTCTGCTCACTCTAGTGGCGCCCAGACCCCTGAGAGCCTGTCGAGGGAAGGTTCGCCGGCCCCCCTGGAGCCTGAGCCTGGCGCTGCACAGCCCAAACTCGCTGTCATCCAGGAAGCCCGGTTTGCCCAGAGCGCCCCAG___GGTCACCTCTGTCCAGTCAGCCAGTCTTAATCACCGTCCAGCGGCAGCTACCACAGGCCATCAAGCCTGTCACCTACACTGTGGCCACCCCAGTGACCACCTCGACCTCCCAGCCACCCGTCGTGCAGACGGTTCACGTCGTCCACCAGATCCCAGCGGTGTCGGTCACCAGTGTGGCCGGACTGGCCCCAGCGAACACGTACACTGTCTCTGGACAAGCTGTGGTCACCCCGGCAGCCGTGCTGGCCCCTCCTAAGGCAGAGGCCCAGGAGAATGGAGACCACAGGGAAGTCAAAG___TGAAAGTAGAGCCTATTCCCGCCATTGGCCACGCCACGCTCGGCACTGCCAGCCGGATCATTCAGACGGCACAGACCACCCCGGTCCAGACGGTGACCATAGTACAACAGGCACCTCTA)GGTCAACACCAGCTACCAATAAAAACTGTAACACAAAACGGCACTCACGTGGCATCAGTCCCCACTGCGGTCCACGGCCAGGTGAACAATG|ATGAGACACgGAGGACCAGAGAGGTTTAGTGACTTAATTTGGGTCACACAGCAAGTGGAACCCCAGGGGAGTAAACTTGGGGTCGTGTGAGTCCTTCACCAACAAAATGGGACACGGCCAGTCGAGCTGGG___GAAATAAATGATAATCCTGTTGCCACCCGCGACACAGATTTGATGACTCAGG(GATGGGTCATCACCCGAAGCCTGAAGAGCTGCGTGAGAACCCCCTCTTTGCAATCCATTGCTGTCCTGAAGCCACAAAGGATTCTGGGACCTCTCCATTGCCCCCCGACCCCCAGACATCCCCCAGCTCCTGGATAGAAATGGTGGGAGTGATCTGTTTTAGGATACCCCCAAAGGCCATGCGGCCCAGACGGGAAGTTCCTGCTTCCTCCTGGGCACGGAGGAGGACAGGAGGAAGTGGAACCGGCAGATGCCAGGAAGGAACTGGGTTAACCGTGCCAAGCCCCAGTCATCACAAGGCAACTGGAGCCAGCTATGTGCACAGAGTCCAGCACCAGGCCCTCACAGGAAACGCAGCTGCTGGGGAAGTGGGGAGCCAGGCCAGGCAGCCGCAGGGGCAGGAGGCTCGGCCTCTCAGTCCCGCTCTGGCTCAAACTAGCTGCTGACCCCCAATCAATCCTGCTGCCTCCTTGGGCCTCATTTTCCCCATCTGGCACTGGGGTTCTGTGGTGTTTCTGTCCCCCAAGGCAGGCGAACAGGGCAGTCAGGAGCATGGACTTTGGAACCAGAATTCTAGGTGCGAGTCTCAGCTGTGTGACCTTGGGCAAGTCGCTCTGCCTCTCTGAGCCTCAGTTTATCCTTTGGGGGAAACTAGGAGTGCCTGCCTCAAAGTGCTAAGAACAGGCCGGGCACAATGGCTCACATCTCTAATCTCGTCACTTTGGGGAGGCCAAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTACT)$ MAAAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGREFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFTPPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNGVFVDGVFQRRGAPPLQLPRVCTFRFPSTNIKITFTALSSEKREKQEASESPVKAVQPHISPLTINIPDTMAHLISPLPSPTGTISAANSCPSSPRGAGSSGYKVGRVMPSDLNLMADNSQPENEKEASGGDSPKDDSKPPYSYAQLIVQAITMAPDKQLTLNGIYTHITKNYPYYRTADKGWQNSIRHNLSLNRYFIKVPRSQEEPGKGSFWRIDPASESKLIEQAFRKRRPRGVPCFRTPLGPLSSRSAPASPNHAGVLSAHSSGAQTPESLSREGSPAPLEPEPGAAQPKLAVIQEARFAQSAPGSPLSSQPVLITVQRQLPQAIKPVTYTVATPVTTSTSQPPVVQTVHVVHQIPAVSVTSVAGLAPANTYTVSGQAVVTPAAVLAPPKAEAQENGDHREVKVKVEPIPAIGHATLGTASRIIQTAQTTPVQTVTIVQQAPLGQHQLPIKTVTQNGTHVASVPTAVHGQVNN|detrrtrev* 11BR019 ENSG00000123066.8 ENSG00000258102.5 -/- +/- chr12:116237468 chr12:116559959 CDS/splice-site intron duplication/5'-5' 2 5 0 138 22 high out-of-frame . Mediator_complex_subunit_13_N-terminal(100%)| . . ENSG00000123066.8 ENSG00000258102.5 ENST00000281928.8 . upstream downstream . ^(GGGCCGAGCCGCGGTCGGCGGCCGCCATTGCTGTCAGAGCAAGCGAGCCCGGGGAGGGAGGAGAAGCGAGGCTGACTGGGGAGGAGGGGGGGGTGGGGGAGGAAGAGGAAGGAGGGGACGTCGCTCGGCTGCCGGGGTCGCCCGCTGGCTTCGTCCGCACCCCCCCCTTCGCGAGTTCGCGCTCCGCGGCGGCGGCGGCTCCGAGGCGGCGGCGGCGGCTCCGGGGCTCGCCTCCCCTCGCGCGCCGGCGGGGGCCGAGGGGGAGTCGGTGGCTGGAGATAAACAAGGCGGCGGCAGCGGCAGCAGCGGCGGCGGCGGCGGCTGAGGAGCAGGGAAGGCGGAGGCGGTGGCCGGCCCGCAGCGCCGGCCCGGGGCGCGCGCCCCCCCCGCCAGCCCGGGCCCGCTGCCCCCGGCGCGGCGTCGCCGCGGCGCCTCCCGCCTGCCCGCCGGCCCTCGCGCCCTCCCCCGGCGGCGGCGGCGGCCCGGCCGCCCCGCGCTCCCCGGCGAGGCGCCGCCGCCCGGCCCGGCCTCGCCTCGGACGCCTCGCTCCGACATGCCCCGCTCTGGCGGCCGGGCTCGCGGAGGATCATGACTGCGGCAGCGAACTGGGTGGCGAACGGGGCGAGCCTGGAGGATTGTCACTCCAACCTCTTTTCGCTG___GCTGAACTCACGGGAATCAAATGGCGTAGGTACAATTTTGGAGGGCATGGGGACTGTGGACCCATAATTTCAGCCCCAGCCCAAGATGATCCAATTCTGTTAAGTTTCATCCGCTGTCTGCAAGCTAACCTGCTTTGTGTATGGCGTCGTGA)TGTCAAACCAGATTGCAAAGAGTTATGGATATTCTGGTGGGGAGATGAACCCAACCTAGTGGGTGTAATACATCATGAACTGCAGG|CTGTGTTTCCGGTGAGCGGCTGTGGGATTCTTCTGACTCAGCAAAACTGGAGCAGTAACCGTCAAGAAGCCATTCAAGCAAGGCTAGAAATAAAGAAGCTGTTTCTTCACCGTCCCCTCCTCCTCCTCTCACTTCCCTCCCCATGGGTACCTTTTGAAAGTCTCAC MTAAANWVANGASLEDCHSNLFSLAELTGIKWRRYNFGGHGDCGPIISAPAQDDPILLSFIRCLQANLLCVWRRDVKPDCKELWIFWWGDEPNLVGVIHHELQ|avfpvsgcgilltqqnwssnrqeaiqarleikklflhrpllllslpspwvpfesl 11BR019 ENSG00000267248.3 ENSG00000266537.1 -/- -/- chr17:60134756 chr17:59179879 exon/splice-site exon/splice-site deletion 2 4 0 18 15 high . . . . . ENSG00000267248.3 ENSG00000266537.1 ENST00000661874.1 ENST00000582158.1 upstream downstream . ^(GGGGAAGGGACTCCCGCGGCCCTAAGGTGCTGGCGGGCGTTTGGCGTTGCAGCTGTGTGGGCGCTGGTGCGTGCGAGTAGCGCTCGAAGAAACCCAAAGGCGTCGTGGGGCTGCCGTGTGCCCCAGAGAGCACTGCAGGCCGGGTAGGGGCTAAGGCTCCCCGCAGTCTTCTGTGTGTCGTCCAGTACGCAGTTGAAATCGTTCTCCAACCTGGCCAGTCCTCCGAGGCCCTTCTCAGGCGACCAGACTCTGTTAACAGAGTCCATTGCTAAAACTCCTCGTTAGTATTTACCACTCCTCCAGTCTGTGTTTTGAAGCAGTGGTTTTCAACCACTGCCCGTTTTCAGAAGAAATCATCTCAAGCGTCCGTGTGCTGCTAGAAGCCGGGCCGGGAGGTCTTGGTGCCGGACTCCACCCTGCAGCCCTTCCCTTTCGCCACCGCCCTGTGCTTAGAGAAACCTTAGAGTGGAGCAATGAGTCGCCCTTGACTGAGTAACTCTTCGGGGTCAACTTCTCCTTCCACGCCAAGGAAAGGATTCCAGGGCGATGTTTCTGGAAATAGAGATCTGACCAAGCCACTGCTCTGGTGAAAATTCAGTGGGTCCCTAGCACCTAGTGCAGCGGCTCCTAGCCTGAGTATTGCCGTCTTTCGGTGGGGAGGGGTTGGGTTTTTTTGTAGCATCTGTTGATCTGATCTCCAACATC)CTCCACGTCAATTCCCACTCCACCCACATCCCTTATCCTATACGTAAGCTTTCCAGCCACGGTGCTGGCTTGGGTGGGGGTGCGTGCGGTGCTGACACCAAAATGGAGGTCCCGTGTTTCTGAGAGTCTCTTTCAGAGCAATGCAAACCTGAAACTACTCCTGCCAAGAAACGATTGCAGCTCTTCCCGGAAAAGTTAAAGCCTTTGAGAAACAAAGCTGAG|CCCCTGGGGTAGATCCCAGCCCCCTGTGTGGGTCCCTTTGCTGGAAAAGGAAGAGGGAGTGGTCGGACGAATCTGAGGAGTCATCGGAGGAGGAGCCAGAGAAGGAGCTCGCCCCTGAGCCTGAGGAGACCTGGGTGGCGGAGACGCTGTGTGGGCTCAAGATGAAGCTGAAGCAATGGCGAGTGTCACCCGTGCTCCCTGAGCACCACGAGACTTTCAACAGGCTGCTTG___CTACCTGGCCAATGACATGGAGGAGGACAACGAGG(CCTCCAAATGAAACATTTTCTACTTCCTGTACGGGAAGAACCACTCCCAGATACCCTTGTTCCATAAACTTCGGTTCCAGTTCTTCCGTTCCATGCGCTGGAGGGCTTGG)$ . 11BR019 ENSG00000173821.19 ENSG00000161082.13 +/+ +/+ chr17:80291827 chr19:3278031 CDS/splice-site CDS/splice-site translocation 3 3 0 51 12 high in-frame . |RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%) . . ENSG00000173821.19 ENSG00000161082.13 ENST00000582970.5 ENST00000292672.7 downstream upstream . ^(CAGCGCGCGGCAGGCGGCGAGCTCGGGGGCCGCAG___AAAATGAAACTGAAGCCGTGGTCACGTGACAGGACATGTAGTATATAGCAGGCTGCCAGCGACTCCTGCTCTTGCTTCTGGATCTGCAGGGCAGTCCCAGCAGGACCCATGGAGTGTCCTTCGTGCCAGCATGTCTCCAAGGAGGAAACCCCCAAGTTCTGCAGCCAGTGCGGAGAGAGGCTGCCTCCTGCAGCCCCCATAGCAG___ATTCTGAGAACAATAACTCCACAATGGCGTCGGCCTCGGAGGGTGAAATGGAGTGTGGGCAGGAGCTGAAGGAGGAAGGGGGCCCGTGCTTGTTCCCGGGCTCAGACAGTTGGCAAGAAAACCCCGAGGAGCCCTGTTCCAAAGCCTCCTGGACCGTCCAAGAA___AGCAAAAAGAAGAAAAGGAAGAAGAAAAAGAAGGGGAACAAGTCCGCTTCCTCAGAGCTGGCTTCCTTGCCCCTTTCTCCTGCCAGCCCCTGTCACCTGACTTTGCTTTCAAACCCGTGGCCTCAGGACACAGCCCTGCCCCACAGCCAAGCCCAGCAGAGTGGCCCCACTGGCCAGCCGAGCCAGCCCCCAGGCACAGCCACCACGCCACTGGAGGGTGACGGCCTCTCCGCGCCCACCGAGGTTGGCGACAGCCCCCTGCAGGCCCAGGCTTTGGGAGAGGCAGGAGTGGCCACAGGAAGTGAGGCTCAGAGCAGCCCGCAATTCCAGGACCACACGGAAGGGGAGGACCAGGACGCTTCCATCCCCTCTGGGGGCAGAGGCCTGTCCCAGGAGGGGACCGGTCCCCCCACCTCTGCTGGTGAAGGCCATTCTAGGACTGAAGATGCTGCCCAGGAGCTCCTGTTGCCTGAGTCAAAAGGAGGCAGCTCTGAGCCCGGGACAGAACTGCAGACCACCGAGCAACAGGCAGGGGCCTCAGCCTCTATG___GCAGTTGATGCTGTAGCTGAGCCAGCCAATGCAGTTAAAGGGGCCGGGAAGGAAATGAAAGAGAAGACCCAGAGAATGAAACAGCCACCAGCAACCACTCCTCCTTTCAAAACACACTGCCAG___GAAGCTGAGACCAAGACCAAGGACGAGATGGCTGCTGCTGAAGAAAAAGTCGGTAAGAATGAACAAGGGGAGCCTGAAGACCTCAAGAAGCCAGAGGGGAAGAACAGAAGTGCAGCTGCTGTGAAAAACGAGAAGGAGCAAAAAAACCAGGAAGCAGATGTCCAGGAAGTGAAGGCAAG___CACGCTGAGCCCGGGTGGAGGAGTCACCGTGTTCTTCCACGCCATCATCTCTCTTCATTTCCCATTCAATCCTGACCTCCATAAAGTCTTCATCAGAGGAGGAGAAGAATTTGGGGAGTCAAAATGGGACAGCAATATCTGTGAGCTGCACTACACCAG___)AGACTTGGGTCATGACCGCGTTCTTGTTGAAGGCATTGTCTGCATTTCCAAGAAGCACCTAGATAAATACATTCCTTACAAGTACGTCATTTATAATGGGGAATCTTTTGAGTATGAGTTCATTTACAAGCACCAGCAGAAGAAGGGCGAGTACGTCAACCGCTGTCTGTTCATAAAATCTTCACTTCTGGGCTCAGGAG|GCTGTGCTTTCGTGAAGTTCTCCTCCCACACGGAGGCGCAGGCGGCCATCCACGCCTTGCATGGGAGCCAGACCATGCCG___GGAGCCTCCTCCAGCCTGGTGGTCAAGTTCGCCGACACGGACAAGGAGCGGACGCTCCGGCGCATGCAGCAGATGGTGGGCCAGCTGGGCATCCTGACGCCGTCCCTCACATTGCCCTTCAGCCCCTACAGTGCCTACGCC(CAGGCT___CTCATGCAACAGCAGACAACAGTCCTGTCCACCTCGGGCAGCTACCTGAGTCCCGGCGTGGCCTTCTCACCCTGTCACATCCAGCAGATAGGCGCCGTCAGCCTCAACGGGCTGCCTGCCACACCCATCGCTCCTGCCTCTG___GGCTGCACTCACCCCCGCTGCTGGGCACCACCGCTGTGCCTGGCCTCGTGGCTCCCATCACCAATGGCTTTGCAGGTGTCGTGCCCTTTCCAGGTGGGCACCCTGCCCTGGAAACCGTCTATGCCAATGGCCTTGTGCCCTACCCAG___CTCAGAGCCCGACTGTGGCCGAGACACTGCATCCTGCCTTCTCCGGAGTCCAGCAGTACACAG___CCATGTACCCCACCGCGGCCATCACGCCCATCGCGCACAGCGTCCCCCAGCCGCCGCCCCTCCTGCAGCAGCAGCAGCGAGAAG___GTCCCGAGGGCTGTAACCTGTTTATCTACCACCTCCCCCAGGAGTTTGGAGACACGGAGCTGACGCAGATGTTCCTACCCTTCGGCAATATCATTTCCTCCAAGGTGTTTATGGATCGAGCTACCAACCAGAGCAAGTGTTTCG___GCTTCGTGAGCTTTGATAACCCGGCCAGCGCCCAGGCAGCCATCCAGGCCATGAACGGCTTCCAGATCGGCATGAAGAGGCTCAAAGTCCAGCTGAAGCGGCCCAAAGACCCGGGACACCCCTACTGACCGCGCCCACAGCCGCCCTGAGGCTGTAGGCATGGCCCAG___ACCTGCGTGATTTGTACAATGTACTTTATTTCTGCTACGAGTAATTTCATGAAGTTTCAACTTGCAAACTGACTTTTGGGACAAACCAACACACACACAGAAGAGAAAGCAAAGAACTTGGAACTTTGGGTTGACTCGGTTTGAGTTTTGTGTCAAAGAAGATTTCCCGCGGCTGAAGAGGTTGGTGTTCCTGTTACGTGTTTCAGGTGAGAAGCAGCAAAGCGTCTTAATGTTCAAAACGCCTCTCTTTGGTCTGGAGAAAAAAAAAAAAAAAAAAAAACAACTAAAAATTTATTTAATAAAAGTTTTACTTGCTAAA)$ MECPSCQHVSKEETPKFCSQCGERLPPAAPIADSENNNSTMASASEGEMECGQELKEEGGPCLFPGSDSWQENPEEPCSKASWTVQESKKKKRKKKKKGNKSASSELASLPLSPASPCHLTLLSNPWPQDTALPHSQAQQSGPTGQPSQPPGTATTPLEGDGLSAPTEVGDSPLQAQALGEAGVATGSEAQSSPQFQDHTEGEDQDASIPSGGRGLSQEGTGPPTSAGEGHSRTEDAAQELLLPESKGGSSEPGTELQTTEQQAGASASMAVDAVAEPANAVKGAGKEMKEKTQRMKQPPATTPPFKTHCQEAETKTKDEMAAAEEKVGKNEQGEPEDLKKPEGKNRSAAAVKNEKEQKNQEADVQEVKASTLSPGGGVTVFFHAIISLHFPFNPDLHKVFIRGGEEFGESKWDSNICELHYTRDLGHDRVLVEGIVCISKKHLDKYIPYKYVIYNGESFEYEFIYKHQQKKGEYVNRCLFIKSSLLGSG|gCAFVKFSSHTEAQAAIHALHGSQTMPGASSSLVVKFADTDKERTLRRMQQMVGQLGILTPSLTLPFSPYSAYAQALMQQQTTVLSTSGSYLSPGVAFSPCHIQQIGAVSLNGLPATPIAPASGLHSPPLLGTTAVPGLVAPITNGFAGVVPFPGGHPALETVYANGLVPYPAQSPTVAETLHPAFSGVQQYTAMYPTAAITPIAHSVPQPPPLLQQQQREGPEGCNLFIYHLPQEFGDTELTQMFLPFGNIISSKVFMDRATNQSKCFGFVSFDNPASAQAAIQAMNGFQIGMKRLKVQLKRPKDPGHPY* 11BR019 ENSG00000104450.13 ENSG00000132549.18 +/+ +/+ chr8:100194268 chr8:99717171 CDS/splice-site CDS/splice-site duplication 1 2 2 11 23 high in-frame . Tetratricopeptide_repeat(100%)|SHR-binding_domain_of_vacuolar-sorting_associated_protein_13(100%),Vacuolar-sorting-associated_13_protein_C-terminal(100%) . . ENSG00000104450.13 ENSG00000132549.18 ENST00000251809.4 ENST00000357162.6 downstream upstream mismappers(1) ^(GACGAGACCCTCCCTCAGCACCTGCAGTGCAGCCAGAGCCGGTGCGGCGGCCGCGACTTCCCCGACGCGGGGCGCTGAGAAGCA___CTATGACCACCAAAGATTATCCATCATTGTGGGGCTTTGGAACAACAAAAACATTCAAAATTCCCATTGAACATCTAGATTTCAAATACATTGAAAAATGTTCAGATGTTAAACATCTGGAAAAAATTCTTTGCGTGCTCAG___ATCTGGTGAGGAAGGATATTATCCTGAACTTACAGAATTTTGTGAAAAGCATCTTCAAGCCTTGGCCCCTGAAAGCAGAGCTTTGAGGAAAGATAAACCAGCAGCAACAGCAGCCAGTTTTACAGCTGAAGAATGGGAAAAAATTGATGGTGATATAAAG___AGTTGGGTATCAGAAATTAAAAAAGAAGAAGATAAAATGCACTTTCATGAAACTGAGACATTTCCAGCAATGAAAGATAATTTGCCTCCAGTTCGTGGTTCAAACAGCTGTCTTCATGTAGGCAAG___GAAAAATATTCTAAAAGACCAACTAAAAAGAAAACTCCAAGGGATTACGCGGAATGGGATAA___ATTTGACGTGGAGAAGGAATGTTTAAAAATTGATGAAGATTACAAAGAAAAGACGGTAATAGACAAGTCACACTTGTCTAAAATTGAGACAAGAATAGATACAGCAG___GTCTAACTGAGAAAGAAAAGGATTTTCTTGCCACTCGTGAAAAGGAGAAAGGAAATGAAGCTTTCAACTCAGGAGATTATGAAGAAGCAGTGATGTATTATACCAG___GAGCATATCAGCGCTTCCCACTGTAGTTGCCTATAACAATCGAGCTCAAGCAGAAATCAAATTACAGAACTGGAATAGTGCTTTTCAGGATTGTGAAAAGGTCTTGGAGTTAGAACCTGGAAACGTAAAGG___CTCTTCTGCGTCGTGCTACTACATATAAACATCAAAACAAGCTCCGGGAAGCTACAGAAGATTTGAGTAAAGTACTAGATGTTGAGCCTGATAATGATTTGGCCAAG___)AAAACCT?GTCAGAGGTTGAAAGAGATCTGAAAAATTCTGAAGCTGCATCTGAGACTCAAACCAAAGGGAAAAGGATGGTTATTCAGGAAATAGAAAACTCCGAAGATGAAGAAGGAAAAAGCGGAAGAAAACATGAAGATGGCGGTGGAGATAAGA|GCATAATTCTTGGGTCATCATTTCTACTCAGTATAAACGATTTTCTCCTTAAAACAAGTCTCAAAGAAAGAAGCCGCATTCTGATAGGACCATGTTGTGCTACTGCCAATCTGGAAGCTAAGTGGTGTAAACACAGCGGGAATCCAGGCCCAGAACAATCCATACCAAAAATATCCATTGACTTAAGAGGAGGTCTACTACAG___GTCTTCTGGGGTCAAGAACATTTGAATTGTTTAGTTCTTCTACATGAATTACTCAATGGATACCTTAATGAG(GAGGGAAATTTTGAAGTACAAGTTTCTGAACCAGTGCCTCAAATGTCATCTCCTGTGGAAAAGAATCAGACATTTAAAAGTGAACAAAGTTCAGATGACCTACGGACAGGTCTATTTCAGTATGTACAGGATGCTG___AATCTTTGAAATTGCCTGGGGTCTATGAAGTCTTATTTTATAATGAAACTGAAGATTGCCCAGGGATGATGTTATGGAGATATCCAGAACCTAGAGTACTCACCCTTGTACGAATAACTCCTGTACCTTTTAACACCACAGAGGATCCAGATATTAGCACAGCAGACCTTGGTGATGTGCTACAG___GTTCCTTGTAGCTTGGAATACTGGGATGAACTCCAGAAGGTTTTTGTTGCATTTAGAGAATTTAATCTGTCTGAAAGCAAAGTTTGTGAACTGCAGTTGCCGGATATCAATCTCGTGAATGACCAGAAGAAATTAGTATCTTCAGATCTTTGGAGAATTGTCTTGAACAGCAGTCAAAATGGAGCTGATGACCAAAG___CTCTGCAAGTGAGTCTGGTTCTCAAAGCACTTGTGATCCACTTGTGACTCCAACAGCCCTGGCTGCCTGTACCAGAGTTGACTCCTGCTTTACCCCATGGTTTGTCCCATCCCTTTGCGTTTCTTTCCAGTTTGCTCACCTGGAATTCCATCTTTGTCATCACCTTGACCAACTAGGCACAG___CTGCACCACAGTACCTACAGCCATTTGTTTCCGACAGAAATATGCCATCTGAACTAGAATACATGATTGTTTCCTTCAGAGAACCACACATGTATCTTCGACAGTGGAATAATGGTTCTGTCTGTCAGGAGATCCAGTTCTTAGCTCAAGCAGACTGTAAACTTCTAGAGTGCAGAAATGTCACTATGCAAAGTGTGGTGAAACCCTTCAGCATCTTCGGGCAGATGGCAGTTTCCAGCGATGTAGTGGAAAAGCTGCTTGACTGCACCGTGATAGTTGATTCTGTATTTGTAAACCTTGGACAGCATGTAGTCCATTCACTAAACACTGCAATACAAGCTTGGCAACAG___AACAAATGCCCTGAGGTAGAGGAGTTGGTCTTCAGCCATTTTGTGATCTGTAATGACACACAGGAGACACTGCGGTTTGGCCAGGTGGATACTGATGAAAATATTCTGCTGGCGAGTCTCCACAGTCACCAGTACAGCTGGCGCTCTCACAAATCCCCACAG___CTGTTACACATCTGTATTGAAGGTTGGGGCAACTGGCGTTGGTCAGAGCCTTTCAGTGTGGACCATGCCGGGACTTTTATTAGAACAATTCAGTACAGGGGTCGAACTGCTTCTCTCATCATCAAGGTTCAGCAACTCAATGGAGTACAAAAACAG___ATTATCATCTGTGGAAGACAGATCATCTGTAGTTACTTGTCTCAAAGCATAGAACTAAAAGTCGTTCAGCATTACATTGGTCAAGATGGACAAGCTGTAGTTCGGGAACATTTTGACTGCCTCACAGCCAAACAGAAATTGCCTTCGTACATACTAGAAAACAATGAACTGACGGAGCTGTGTGTGAAGGCCAAAGGAGATGAAGACTGGTCAAGAGATGTGTGCCTGGAATCCAAAGCCCCTGAGTACAGCATTGTCATTCAG___GTGCCATCTTCAAACAGTTCCATTATTTATGTCTGGTGCACAGTTTTGACTTTAGAACCCAACTCTCAAGTGCAACAACGAATG___ATTGTGTTCAGCCCTCTTTTTATCATGAGGAGTCATCTTCCAGACCCCATTATCATACATTTGGAGAAAAGGAGTCTGGGATTGAGTGAAACACAAATTATTCCAGGAAAAGGGCAGGAAAAACCACTGCAAAACATAGAACCTGACCTTGTACATCACCTGACATTCCAAGCAAG___AGAAGAATATGATCCTTCAGATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACAGTTAATCAGATCCTTGACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCTGACAG___GAATGAACAGCTAAGTCAGTGGGATAGCCCAATGCGAGTGAAGCTGTCAATCTGGAAGCCATATGTTAGAACTTTGTTGATAGAACTTCTGCCCTGGGCCCTGCTTATCAATGAATCCAAATGGGACCTCTGGCTATTTGAAGGAGAGAAAATTGTTCTACAGGTTCCTGCTGGCAAAATTATTATTCCTCCTAATTTTCAG___GAAGCTTTTCAAATTGGAATATACTGGGCAAATACAAACACTGTGCACAAGTCAGTAGCAATTAAACTGGTCCATAACCTGACATCTCCAAAGTGGAAAGATGGAGGTAATGGTGAAGTTGTGACACTGGATGAAGAAGCGTTTGTTGATACTGAAATAAGACTTGGTGCTTTTCCAGGACATCAGAAG___TTATGTCAGTTCTGCATTTCCTCCATGGTACAGCAAGGTATACAAATTATTCAGATTGAAGACAAGACTACAATAATCAATAATACACCATATCAAATATTTTATAAACCACAGCTATCTGTCTGCAATCCCCATTCTGGAAAGGAG___TATTTTCGTGTTCCAGACAGTGCTACTTTTAGCATTTGCCCAGGTGGAGAGCAGCCTGCTATGAAATCCAGCTCCCTTCCTTGCTGGGACTTGATGCCTGACATCAGTCAGTCAGTACTGGATGCATCCCTGCTTCAGAAACAGATCATGCTGGGCTTTTCTCCTGCCCCAGGTGCTGACAGCTCACAGTGCTGGAGCCTGCCAGCTATAGTTAGACCAGAGTTTCCCAGACAGAGTGTGGCAGTACCCCTCGGGAATTTCCGGGAAAATGGATTCTGTACCAG___GGCTATAGTGCTGACATATCAAGAACACCTCGGAGTGACTTATTTAACCCTCTCAGAAGACCCTAGTCCTCGAGTAATTATCCACAATAGATGTCCAGTAAAAATGCTTATAAAGGAAAACATTAAAG___ATATTCCAAAGTTTGAGGTTTATTGCAAAAAAATTCCCTCCGAGTGCTCAATTCATCATGAGCTGTATCATCAGATTTCCAGTTATCCGGACTGCAAGACCAAAGACTTACTTCCAAGCCTACTTTTGAGAGTTGAACCTCTAGATGAAGTAACAACTGAGTGGAGTGATGCCATTGACATCAACAGTCAGGGAACACAG___GTTGTGTTCCTGACTGGCTTTGGCTATGTGTATGTGGATGTTGTACATCAGTGTGGCACAGTCTTCATCACTGTGGCCCCAGAAGGAAAAGCAGGACCTATTTTAACCAATACCAACAG___AGCGCCAGAGAAGATTGTTACATTTAAAATGTTCATCACTCAGTTAAGCCTGGCAGTGTTTGATGACCTCACCCACCACAAAGCATCAGCTGAGCTTCTGAGACTCACACTGGACAACATTTTTCTCTGTGTGGCCCCGGGAGCTGGTCCCCTCCCTGGGGAAGAGCCTGTGGCTGCGTTGTTTGAACTTTACTGTGTGGAGATCTGCTGTGGGGACCTGCAGCTAGACAACCAGCTTTATAACAAGTCCAATTTCCACTTTGCTGTCTTAGTCTGCCAGGGAGAAAAAGCAGAACCCATTCAGTGTTCCAAAATGCAGAGTCTCCTCATATCCAACAAAGAGTTGGAAGAATACAAGGAAAAATGTTTTATCAAACTTTGCATCACCTTAAATGAAGGCAAGAGCATCCTCTGTGATATTAATGAGTTCAGCTTTGAATTAAAACCTGCTCGGTTATACGTGGAAGACACATTTGTATACTACATCAAGACTTTGTTTGACACCTACCTTCCTAACAGCAGGTTGGCTGGTCACTCCACACACCTCTCCGGGGGTAAACAGGTGTTGCCCATGCAGGTCACACAGCACGCCAGGGCCTTGGTGAATCCTGTGAAGTTACGGAAACTGGTGATCCAGCCAGTAAATTTGCTCGTCAGCATCCACGCTTCCCTCAAGCTGTACATAGCCTCAGACCACACTCCTCTCTCCTTCTCGGTGTTTGAAAGAGGACCCATCTTCACCACTGCGAGGCAGCTTGTGCACGCCCTGGCAATGCACTATGCCGCTGGGGCCCTTTTTAGAGCAG___GCTGGGTAGTTGGGTCTCTGGATATTCTTGGCAGCCCTGCAAGCCTGGTGAGAAGCATCGGGAACGGGGTCGCCGACTTCTTCAGGCTTCCGTATGAGGGGCTGACCCGGGGCCCTGGAGCCTTCGTGAGTGGCGTCTCCAGAGGGACCACATCGTTTGTAAAGCACATCTCCAAAG___GTACCCTCACATCCATCACCAACCTCGCCACAAGCCTGGCCCGGAACATGGACCGGCTCTCACTGGATGAGGAGCACTACAACCGGCAGGAGGAGTGGCGGCGGCAGCTCCCCGAGAGCCTGGGCGAGGGGCTTCGACAGGGCCTGTCCCGGCTGGGCATCAGCCTGCTTG___GTGCAATTGCTGGTATAGTTGATCAGCCGATGCAGAACTTCCAGAAAACATCTGAGGCACAGGCTTCAGCAGGACACAAGGCCAAGGGTGTCATCTCGGGTGTGGGGAAAGGAATCATGGGGGTGTTCACAAAGCCCATCGGAGGAGCTGCTGAGCTGGTGTCACAGACTGGCTATG___GTATTTTACATGGAGCTGGACTTTCTCAGCTTCCCAAACAGCGCCATCAGCCAAGTGATCTACATGCTGACCAGGCTCCAAACAGCCATGTCAAATATGTCTG___GAAAATGCTTCAGTCTCTGGGCAGACCAGAAGTCCACATGGCCCTGGACGTGGTTCTGGTGAGGGGCTCAGGCCAGGAGCATGAAGGGTGCTTGCTGCTGACATCAGAAGTGCTCTTCGTGGTGAGTGTCAGTGAGGACACACAGCAGCAGGCCTTCCCCGTCACAGAAATCGACTGTGCACAGGACAGCAAGCAGAACAACTTACTCACAGTGCAGCTCAAGCAGCCAAGAGTGGCCTGTGATGTGGAG___GTAGATGGAGTCCGAGAGAGACTGTCAGAGCAACAGTACAACAGACTGGTGGACTACATCACAAAGACATCTTGTCACCTGGCCCCCAGCTGTTCTTCCATGCAAATACCATGCCCTGTGGTGGCTGCAGAACCTCCCCCCTCCACTGTTAAAACATACCATTACCTGGTTGATCCACATTTTGCTCAGGTCTTCCTTAGTAAATTTACCATGGTGAAAAATAAAGCCCTGAGGAAAGGGTTTCCTTGAGTCCCCTCTGAGGTGTTTATTCCTGCTTGTGTGATTTAGTTTTTGGGTTTCTTTGAGACAGGGTCTCACTGCATTGCCCTTGCTGACCTCAAATTCTGGGGTTCAAGCAATCCTCCCACCTCAACCCACAAGTAGCTACGACTGCAAGCACCTGCCACCATAAAGGGCTGCATTTTGCCACCATAAAGGGCTGCATTTTTTTAAAAAGCCTAGGCAGCTCTAACATCATCTGATATGGACACAAGGCCAACAGTTTCCTTATTTACATCCTTACCTCTAAAAGATACTTCAAAGTGACAAAAACGTGTTCCTTCCCCACTTAGAGACAATGATTAACAGGGCCCTATATGTTCTTACCACATACAGAGGATGCATTTATTTTTGCTCTATGACACTTGCAAAAATCTCTACTGTAATTAATTTGGGTCTATTATTAACTCTCTGTTCCATCATAGAATGTGGCCAGGCCTTACAATGGAGAGCCAGAGTTAAAACTTCAAGTTGCATCTGTTTTTGGGCTGAGTCACCACCTTTGCCTCATGCTCCTTTGTCTGCAAAGGCCTAGGATTCTTTCTTTAAATGAAATGCTTAGGACTTTGTGGCTTGTTACATTTGTCATTTAACTGCAGTGCTATTCTTTGAAAGCTGCTATGTGTATTTTCTCTGAAGTCTGCATTTTACTAAAATTTACAACAGTCTGATGATTGATTGATTACTGTCCAGGTACATTTTAGAAAAAGTGTTCTTCTTCCAGTTTGTTTTACTAAGCAAACTTTGAGTAAATCCTTTGTCCTATATTGAATCCAGTCCCAAAGTGTTCAGGTGAGTTTCTCTAGTTCCATAAACAAAACATACATAGTGGGAACTCCCTGGTATGCCATAGAGCACACAAGAACCCCAATATTAATGCTAACAATTATACCAGTCCATTTTGTTTATTCTGTGGAATTGACTTGACAAAGCATGAAGATATTCCCAGTGTCTGTCTGATAATATTTTGCATCTAAGAATGGGTTTGACTCAAGATCTTGGGTTACCAAGATGTCTTAAATGTTCAGTAAATATCTTTCTTACAGTCCAGTAGCTTAGAGCATGTTTGCTGATTGATATTACATTTAAACTTGGGGCTACAGCTTGTTACCTAGAATTTTGAGATACTAAGAGAATGCAATTTTAAATGCCCACTGGTTTTATTTGTTTTGGAGAGAGGGTCTCATTCTGTCACCCAGGCTAGAGTACAGTGGGAACAGTCATGGCTCACTGCAGCTTAAGCTCACTGCCTGGGCTCAAGTGATCTTACTCCAGCCTCCCAAGCAGCTGGGACTACACCACCACAGGTATGCACCACCATACCTGGCTGATTTTTAAAATTTTTTCTAGAGATGAGGTCTCACTATGTTGCCCAGCTGGTCTCATACTCCTCAGTTCACGCATTCCTCCCACCTCCACCTCCCAAACTGCTGGGATTACAGGTGTGAGCCACCATGCCCAACACCCACTGATCTTTAACTCTCACATGTTGGGCATAAGAAGTCACTATATAATTGTTACTGGAAAGCAAGACTTAACGAACAATTCTGACTATGAAAAATGTCTCTTTCAGTTTGTTCTGTAAATATTTAGAAAAGTGACAGCTGTCAACCTCAGAGTAACTATTTCTAAAAATGTAAATATGTATTAATCCTTGTATCTTTTATGGTAATTTTGCATATTGATATGAATTATATAAAATTGTTTAAAATAAAAGGTGTCCTTGAATTACTGACCACCCATAGATGTCTACTGTTACCAGGTTTTACAATGCAAATTTTCACTAATACCTGGGTTTAATACAGCTCACATCACTGAATGTTACACATGAGTTTAAATGGGTAATATACAGGTTTTGTTATAATAAAGTTACTGATTAAATTA)$ MTTKDYPSLWGFGTTKTFKIPIEHLDFKYIEKCSDVKHLEKILCVLRSGEEGYYPELTEFCEKHLQALAPESRALRKDKPAATAASFTAEEWEKIDGDIKSWVSEIKKEEDKMHFHETETFPAMKDNLPPVRGSNSCLHVGKEKYSKRPTKKKTPRDYAEWDKFDVEKECLKIDEDYKEKTVIDKSHLSKIETRIDTAGLTEKEKDFLATREKEKGNEAFNSGDYEEAVMYYTRSISALPTVVAYNNRAQAEIKLQNWNSAFQDCEKVLELEPGNVKALLRRATTYKHQNKLREATEDLSKVLDVEPDNDLAKKT?SEVERDLKNSEAASETQTKGKRMVIQEIENSEDEEGKSGRKHEDGGGDK|sIILGSSFLLSINDFLLKTSLKERSRILIGPCCATANLEAKWCKHSGNPGPEQSIPKISIDLRGGLLQVFWGQEHLNCLVLLHELLNGYLNEEGNFEVQVSEPVPQMSSPVEKNQTFKSEQSSDDLRTGLFQYVQDAESLKLPGVYEVLFYNETEDCPGMMLWRYPEPRVLTLVRITPVPFNTTEDPDISTADLGDVLQVPCSLEYWDELQKVFVAFREFNLSESKVCELQLPDINLVNDQKKLVSSDLWRIVLNSSQNGADDQSSASESGSQSTCDPLVTPTALAACTRVDSCFTPWFVPSLCVSFQFAHLEFHLCHHLDQLGTAAPQYLQPFVSDRNMPSELEYMIVSFREPHMYLRQWNNGSVCQEIQFLAQADCKLLECRNVTMQSVVKPFSIFGQMAVSSDVVEKLLDCTVIVDSVFVNLGQHVVHSLNTAIQAWQQNKCPEVEELVFSHFVICNDTQETLRFGQVDTDENILLASLHSHQYSWRSHKSPQLLHICIEGWGNWRWSEPFSVDHAGTFIRTIQYRGRTASLIIKVQQLNGVQKQIIICGRQIICSYLSQSIELKVVQHYIGQDGQAVVREHFDCLTAKQKLPSYILENNELTELCVKAKGDEDWSRDVCLESKAPEYSIVIQVPSSNSSIIYVWCTVLTLEPNSQVQQRMIVFSPLFIMRSHLPDPIIIHLEKRSLGLSETQIIPGKGQEKPLQNIEPDLVHHLTFQAREEYDPSDCAVPISTSLIKQIATKVHPGGTVNQILDEFYGPEKSLQPIWPYNKKDSDRNEQLSQWDSPMRVKLSIWKPYVRTLLIELLPWALLINESKWDLWLFEGEKIVLQVPAGKIIIPPNFQEAFQIGIYWANTNTVHKSVAIKLVHNLTSPKWKDGGNGEVVTLDEEAFVDTEIRLGAFPGHQKLCQFCISSMVQQGIQIIQIEDKTTIINNTPYQIFYKPQLSVCNPHSGKEYFRVPDSATFSICPGGEQPAMKSSSLPCWDLMPDISQSVLDASLLQKQIMLGFSPAPGADSSQCWSLPAIVRPEFPRQSVAVPLGNFRENGFCTRAIVLTYQEHLGVTYLTLSEDPSPRVIIHNRCPVKMLIKENIKDIPKFEVYCKKIPSECSIHHELYHQISSYPDCKTKDLLPSLLLRVEPLDEVTTEWSDAIDINSQGTQVVFLTGFGYVYVDVVHQCGTVFITVAPEGKAGPILTNTNRAPEKIVTFKMFITQLSLAVFDDLTHHKASAELLRLTLDNIFLCVAPGAGPLPGEEPVAALFELYCVEICCGDLQLDNQLYNKSNFHFAVLVCQGEKAEPIQCSKMQSLLISNKELEEYKEKCFIKLCITLNEGKSILCDINEFSFELKPARLYVEDTFVYYIKTLFDTYLPNSRLAGHSTHLSGGKQVLPMQVTQHARALVNPVKLRKLVIQPVNLLVSIHASLKLYIASDHTPLSFSVFERGPIFTTARQLVHALAMHYAAGALFRAGWVVGSLDILGSPASLVRSIGNGVADFFRLPYEGLTRGPGAFVSGVSRGTTSFVKHISKGTLTSITNLATSLARNMDRLSLDEEHYNRQEEWRRQLPESLGEGLRQGLSRLGISLLGAIAGIVDQPMQNFQKTSEAQASAGHKAKGVISGVGKGIMGVFTKPIGGAAELVSQTGYGILHGAGLSQLPKQRHQPSDLHADQAPNSHVKYVWKMLQSLGRPEVHMALDVVLVRGSGQEHEGCLLLTSEVLFVVSVSEDTQQQAFPVTEIDCAQDSKQNNLLTVQLKQPRVACDVEVDGVRERLSEQQYNRLVDYITKTSCHLAPSCSSMQIPCPVVAAEPPPSTVKTYHYLVDPHFAQVFLSKFTMVKNKALRKGFP* 11BR019 ENSG00000145495.16 ENSG00000201436.1(148357),ENSG00000215196.5(14977) +/+ ./- chr5:10426522 chr5:17090308 CDS/splice-site intergenic inversion 2 3 0 208 4 high out-of-frame . . . . ENSG00000145495.16 . ENST00000274140.10 . downstream downstream . ^(GTTCCCGCCCCTCCCCCTCCCGTGTCGCTCGCTTTCTGTCAGCCTCTCTCCCTCTCCCTCTCCCCTCTCCTTCCTCTCGCTTCCTCTCTCGCACCTGAGCGTACGCACCTGCCCGGGCCCGGCTCCCTCCTCCTCTCCCCTCCCTCTTTCCCCGCCCGGCCGCGGGAGCCTCGTGGCTGCGTCACCGCCGCCCCCCCAGACAAGATGGACACCGCGGAGGAAG___ACATATGTAGAGTGTGTCGGTCAGAAGGAACACCTGAGAAACCGCTTTATCATCCTTGTGTATGTACTGGCAGTATTAAGTTTATCCATCAAGAATG___CTTAGTTCAATGGCTGAAACACAGTCGAAAAGAATACTGTGAATTATGCAAGCACAGATTTGCTTTTACACCAA___TTTATTCTCCAGATATGCCTTCACGGCTTCCAATTCAAGACATATTTGCTGGACTGGTTACAAGTATTGGCACTGCAATACGATATTGGTTTCATTATACACTTGTGGCCTTTGCATGGTTGGGAGTTGTTCCTCTTACAGCAT___GCCGCATCTACAAGTGCTTGTTTACTGGCTCCGTGAGCTCACTACTGACGCTGCCATTAGATATGCTGTCAAC___GGAAAATTTGTTGGCAGATTGTTTGCAGGGTTGTTTTGTGGTGACGTGCACACTGTGTGCATTCATCAGCCTGGTGTGGTTGAGAGAGCAGATAGTCCATGGGGGAGCACCAATTTGGTTGGAGCATGCTGCCCCACCGTTCAATGCTGCGGGGCATCACCAAAATGAG___GCTCCAGCAGGAGGAAATGGTGCAGAAAATGTTGCTGCTGATCAGCCTGCTAACCCACCAGCTGAGAACGCAGTGGTGGGGGAAAACCCTGATGCCCAGGATGACCAGGCAGAAGAGGAGGAGGAGGACAATGAGGAGGAAGATGACGCTGGTGTGGAGGATGCGGCAGATGCTAATAACGGAGCCCAGG___ATGACATGAATTGGAATGCTTTAGAATGGGACCGAGCTGCTGAAGAGCTTACATGGGAAAGA___ATGCTAGGACTTGATGGATCACTAGTTTTTCTG___GAACATGTCTTCTGGGTGGTATCTTTAAATACACTGTTCATTCTTGTTTTTG___CATTTTGCCCTTACCATATTGGTCATTTCTCCCTTGTTGGTTTGGGATTTGAAGAACAC___GTCCAAGCATCTCATTTTGAAGGCCTAATCACAACCATAGTTGGGTATATACTTTTAGCAATAACACTGATAATTTGTCAT___GGCTTGGCAACTCTTGTGAAATTTCATAGATCTCGTCGCTTACTGGGAGTCTGCTATATTGTTGTTAAG___GTCTCTTTGTTAGTGGTGGTAGAAATTGGAGTATTCCCTCTCATTTGTGGTTGGTGGCTGGATATCTGTTCCTTG___GAAATGTTTGATGCTACTCTGAAAGATCGAGAACTGAGCTTTCAGTCGGCTCCAGGTACTACCATGTTTCTGCATTGGCTAGTGGGAATGGTATATGTCTTCTACTTTGCCTCCTTCATTCTACTACTGAGAGAG___GTACTTCGACCTGGTGTCCTGTGGTTTCTAAGGAATTTGAATGATCCAGATTTCAATCCAGTACAGGAAATGATCCATTTGCCAATATATAGGCATCTCCGAAGATTTATTTTGTCAGTG___ATTGTCTTTGGCTCCATTGTCCTCCTGATGCTTTGGCTTCCTATACGTATAATTAAGAGTGTGCTGCCTAATTTTCTTCCATACAATGTCATGCTCTACAG___TGATGCTCCAGTGAGTGAACTGTCCCTCGAGCTGCTTCTGCTTCAGGTTGTCTTGCCAGCATTACTCGAACAGGGACACACGAGGCAGTGGCTGAAGGGGCTGGTGCGAGCGTGGACTGTGACCGCCGGATACTTGCT___GGATCTTCATTCTTATTTATTGGGAGACCAGGAAGAAAATGAAAACAGTGCAAATCAACAAGTTAACAATAATCAGCATGCTCGAAATAACAACGCTATTCCTGTGGTGGGAGAAGGCCTTCATGCAGCCCACCAAGCCATACTCCAGCAGGGAGGGCCTGTTGGCTTTCAGCCTTACCGCCGACCTTTAAATTTTCCACTCAGG___ATATTTCTGTTGATTGTCTTCATGTGTATAACATTACTGATTGCCAGCCTCATCTGCCTTACTTTACCAG___TATTTGCTGGCCGTTGGTTAATGTCGTTTTGGACGGGGACTGCCAAAATCCATGAGCTCTACACAGCTGCTTGTGGTCTCTATGTTTGCTGGCTAACCATAAGGGCTGTGACGGTGATGGTGGCATGGATGCCTCAGGGACGCAGAGTGATCTTCCAGAAGGTTAAAGAGTGGTCTCTCATG___ATCATGAAGACTTTGATAGTTGCGGTGCTGTTGGCTGGAGTTGTCCCTCTCCTTCTGGGGCTCCTGTTTGAGCTGGTCATTGTGGCTCCCCTGAGGGTTCCCTTGGATCAGACTCCTCTTTTTTATCCATGGCAG___GACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAG)TGGTGGTTGAAAACTGTAATTGAACAG___GTTTACGCAAATGGCATCCGGAACATTGACCTTCACTATATTGTTCGTAAACTGGCAGCTCCCGTGATCTCTGTGCTGTTGCTTTCCCTGTGTGTACCTTATGTCATAGCTTCTGGTGTTGTTCCTTTACTAG|GTCAGCTGAGAGCTGTGACTCTGCTCTGTGTGTCTTCATTCTGGGATCAAGCTCACCTGGGCCATGTTGATCTTGGGGAAGGAGAAGGCAAATGACAAGAGCACGCAATGGCTCTTCAGTATCCGCTGGGAAGAGGCACACCACATTCCCACTGACATTTTATGGAAGCAGGCTGTGTGGCCATGCTTGAGATCAGTGTGTGGGGAAGTAAATTCACCCACAGGGTAGACAGAGCAACCCCATGGCAGGAGTGGATGTGTTCAACCCTCCACATAGGGCAGCCAATGAG MDTAEEDICRVCRSEGTPEKPLYHPCVCTGSIKFIHQECLVQWLKHSRKEYCELCKHRFAFTPIYSPDMPSRLPIQDIFAGLVTSIGTAIRYWFHYTLVAFAWLGVVPLTACRIYKCLFTGSVSSLLTLPLDMLSTENLLADCLQGCFVVTCTLCAFISLVWLREQIVHGGAPIWLEHAAPPFNAAGHHQNEAPAGGNGAENVAADQPANPPAENAVVGENPDAQDDQAEEEEEDNEEEDDAGVEDAADANNGAQDDMNWNALEWDRAAEELTWERMLGLDGSLVFLEHVFWVVSLNTLFILVFAFCPYHIGHFSLVGLGFEEHVQASHFEGLITTIVGYILLAITLIICHGLATLVKFHRSRRLLGVCYIVVKVSLLVVVEIGVFPLICGWWLDICSLEMFDATLKDRELSFQSAPGTTMFLHWLVGMVYVFYFASFILLLREVLRPGVLWFLRNLNDPDFNPVQEMIHLPIYRHLRRFILSVIVFGSIVLLMLWLPIRIIKSVLPNFLPYNVMLYSDAPVSELSLELLLLQVVLPALLEQGHTRQWLKGLVRAWTVTAGYLLDLHSYLLGDQEENENSANQQVNNNQHARNNNAIPVVGEGLHAAHQAILQQGGPVGFQPYRRPLNFPLRIFLLIVFMCITLLIASLICLTLPVFAGRWLMSFWTGTAKIHELYTAACGLYVCWLTIRAVTVMVAWMPQGRRVIFQKVKEWSLMIMKTLIVAVLLAGVVPLLLGLLFELVIVAPLRVPLDQTPLFYPWQDWALGVLHAKIIAAITLMGPQWWLKTVIEQVYANGIRNIDLHYIVRKLAAPVISVLLLSLCVPYVIASGVVPLL|gqlravtllcvssfwdqahlghvdlgegegk* 11BR019 ENSG00000160271.16 ENSG00000196422.11 -/- +/- chr9:133100268 chr9:135488224 CDS/splice-site 3'UTR duplication/5'-5' 1 3 0 93 41 high out-of-frame . RasGEF_N-terminal_motif(100%),RasGEF_domain(100%),Ras_association_(RalGDS/AF-6)_domain(100%)| . . ENSG00000160271.16 ENSG00000196422.11 ENST00000393160.7 . upstream downstream . ^(CCGAGCGCGTCCCCGAGCTCACGCGGCGGGGCGCGCCCCTCGCACCTGCGGGCGGGCTGGGGCGGGGCCGCGGCTGTCCCCGCCCACCCGGGCCCGAGCCCGGGGAGCCGGGGCGGAACCGAGCGGCGAGGCCCGAGCGGCCGGAGCGCGGCGCGGCGCAGACAATGGGAGCGGCGCTGGCGGCTGCCGGGGCGGCCCCGAGGGCCGCAGAGTCCTGGGCCCGGCGGGGACCGGAGGCCGCGCCATGAGCCCCGCAGCCGGGCGCACCCCTGCGCCGCGCGCGGGCCCAGGCGAGCGGCCTCTGCGAGCCCCGGGTCCCGCCCTGGGGCCGGCGATGTGCCACCGAGGCTGAGGATGATGGTAGATTGCCAG___AGCTCCACGCAGGAGATCGGTGAGGAGCTGATCAACGGAGTCATCTACTCCATCTCCCTGCGCAAGGTGCAGCTGCACCACGGAGGCAACAAGGGGCAGCGCTGGCTCGGG___TATGAGAATGAGTCGGCCCTGAACCTTTATGAGACTTGCAAGGTGCGGACCGTGAAGGCTGGCACGCTGGAGAAGCTGGTGGAGCACCTGGTGCCAGCCTTCCAGGGCAGCGACCTCTCCTACGTCACCATCTTCCTGTGTACCTATAGAGCCTTCACCACCACCCAACAGGTCCTGGACCTGCTGTTCAAAAG___GTACGGTAGATGTGACGCCCTCACGGCCTCCTCTAGATACGGCTGCATCCTCCCCTATTCCGACGAGGATGGTGGACCCCAGGACCAACTTAAAAA___TGCCATCTCCTCCATCCTGGGCACCTGGCTGGACCAGTACTCGGAGGATTTCTGTCAACCTCCGGACTTTCCCTGCCTCAAGCAGCTGGTGGCCTACGTGCAGCTCAACATGCCAGGCTCAGACCTGGAGCGCCGTGCCCACCTTCTCCTGGCCCAGCTGGAGCACTCGGAACCCATTGAGGCAGAGCCTGAGG___CTCTGTCACCAGTGCCAGCTCTAAAACCAACTCCAGAGCTCGAGCTAGCTCTAACACCAGCTCGAGCACCCAGCCCAGTGCCGGCTCCAGCCCCGGAGCCAGAGCCAGCTCCAACACCAGCTCCAGGTTCAGAGCTAGAAGTAGCTCCAGCACCAGCTCCGGAGCTCCAGCAGGCTCCAGAGCCAGCTGTGGGACTAGAATCGGCTCCAGCGCCAGCTCTGGAACTAGAGCCAGCTCCAGAACAGGATCCAGCTCCCTCACAAACTCTAGAGCTGGAGCCAGCTCCAGCACCAGTTCCATCATTACAGCCTTCCTGGCCTTCACCTGTGGTTGCAGAGAACGGGCTGAGTGAGGAGAAGCCTCACCTCTTGGTGTTCCCTCCAGATCTGGTGGCAGAGCAGTTTACACTGATGGATGCG___GAACTGTTCAAGAAGGTGGTGCCCTACCACTGCCTGGGCTCCATCTGGTCCCAGCGGGACAAGAAGGGCAAGGAGCACCTGGCGCCCACCATCCGCGCCACTGTCACCCAGTTCAACAGTGTGGCCAACTGTGTCATCACCACCTGCCTCGGGAACCGAAGCACGAAAGCCCCAGACAGGGCCAGGGTGGTGGAGCACTGGATCGAGGTGGCCAGG___GAGTGCCGGATCCTCAAGAACTTCTCGTCACTGTATGCCATCCTCTCTGCCCTGCAGAGCAACTCCATCCACCGTCTGAAGAAGACGTGGGAAGACGTTTCCAG___GGACAGTTTCCGGATCTTTCAGAAGCTGTCAGAGATCTTCTCAGATGAGAACAACTACTCATTGAGCCGGGAGCTGCTCATCAAG___GAGGGCACCTCCAAGTTTGCCACCCTGGAGATGAACCCCAAGAGAGCCCAGAAACGGCCGAAGGAGACG___GGCATCATCCAGGGCACCGTTCCCTACCTGGGCACGTTCCTCACCGACCTGGTGATGCTGGACACTGCCATGAAGGACTATCTGTAT___GGCAGACTCATCAACTTTGAGAAGAGGAGGAAG___GAGTTCGAGGTGATCGCCCAGATCAAGCTGCTGCAGTCGGCCTGCAACAACTACAGCATCGCGCCAGATGAGCAATTTGGGGCCTGGTTCCGGGCCGTGGAGCGGCTCAGCGAGACTGAGAG___CTACAACCTGTCGTGCGAGCTGGAGCCCCCATCCGAGTCAGCCAGCAACACCCTCAGGACCAAGAAGAACACAGCCATTGTCAAGCGCTGGAGCGA___CCGCCAGGCCCCCAGCACTGAGCTCAGTACCAGTGGCAGCTCCCACTCCAAGTCCTGTGACCAGCTCAGGTGTGGCCCCTACCTCAGCAGCGGGGACATCGCTGACGCGCTCAGCGTGCACTCGGCCGGCTCCTCTAGCTCCGACGTGGAGGAGATCAACATCAGCTTCGTCCCGGAGTCTCCTGATGGCCAGGAAAAGAAG___TTCTGGGAATCAGCCTCACAGTCATCCCCGGAGACCTCCGGCATCAGCTCAGCCTCCAGCAGCACCTCGTCCTCCTCAGCCTCCACCACGCCCGTGGCTGCCACACGCACCCACAAGCGCTCTGTCTCAGGGCTCTGCAACTCCAGCTCCGCGCTGCCGCTCTACAACCAGCAGGTGGGCGACTGCTGTATCATCCGCGTCAGCCTGGACGTGGACAATGGCAACATGTACAAGAGCATCCTG___GTGACCAGCCAAGATAAGGCTCCGGCTGTAATCCGCAAGGCCATG)GACAAACACAACCTGGAGGAGGAGGAGCCGGAGGACTATGAGCTGCTGCAGATTCTCTCAGATGACCGGA|CCACGGAACCATCACACACACGCACGGCTACGCCGCTTTCCACGAATGCACGCAACCCAGGACGCGAACC MMVDCQSSTQEIGEELINGVIYSISLRKVQLHHGGNKGQRWLGYENESALNLYETCKVRTVKAGTLEKLVEHLVPAFQGSDLSYVTIFLCTYRAFTTTQQVLDLLFKRYGRCDALTASSRYGCILPYSDEDGGPQDQLKNAISSILGTWLDQYSEDFCQPPDFPCLKQLVAYVQLNMPGSDLERRAHLLLAQLEHSEPIEAEPEALSPVPALKPTPELELALTPARAPSPVPAPAPEPEPAPTPAPGSELEVAPAPAPELQQAPEPAVGLESAPAPALELEPAPEQDPAPSQTLELEPAPAPVPSLQPSWPSPVVAENGLSEEKPHLLVFPPDLVAEQFTLMDAELFKKVVPYHCLGSIWSQRDKKGKEHLAPTIRATVTQFNSVANCVITTCLGNRSTKAPDRARVVEHWIEVARECRILKNFSSLYAILSALQSNSIHRLKKTWEDVSRDSFRIFQKLSEIFSDENNYSLSRELLIKEGTSKFATLEMNPKRAQKRPKETGIIQGTVPYLGTFLTDLVMLDTAMKDYLYGRLINFEKRRKEFEVIAQIKLLQSACNNYSIAPDEQFGAWFRAVERLSETESYNLSCELEPPSESASNTLRTKKNTAIVKRWSDRQAPSTELSTSGSSHSKSCDQLRCGPYLSSGDIADALSVHSAGSSSSDVEEINISFVPESPDGQEKKFWESASQSSPETSGISSASSSTSSSSASTTPVAATRTHKRSVSGLCNSSSALPLYNQQVGDCCIIRVSLDVDNGNMYKSILVTSQDKAPAVIRKAMDKHNLEEEEPEDYELLQILSDDR|ttepshtrtatplstnarnpgre 11BR019 ENSG00000161618.10 ENSG00000105205.7(430),ENSG00000213921.7(38136) +/+ ./- chr19:49453421 chr19:39738459 CDS/splice-site intergenic inversion 3 1 0 88 3 high out-of-frame . Aldehyde_dehydrogenase_family(100%)| . . ENSG00000161618.10 . ENST00000293350.9 . downstream downstream . ^(AGCCCCGCCCCTTTGGGCTGGAACCGGAGGTGTCGCTCTTCGGACC)TCAAGGTTCCCCTTAACACAGAGCGCCCCGCAGTCTTCGCGGAAAGCGTTCGGGGTAGGCGATGGCTGCGACGCGTGCAGGGCCCCGCGCCCGCGAGATCTTCACCTCGCTGGAGTACGGACCGGTGCCGGAGAGCCACGCATGCGCACTG|GTCCTGCGAATGATCAAGATCTATGCTCTCCCAGAACCACTGGAGAAGGAGGAGGAGGATTTTCTTTCAAAGCCAAGTGCCTTGCCCCCAGGATCTCCAGCTTTTTACCATT MAATRAGPRAREIFTSLEYGPVPESHACAL|vlrmikiyalpeplekeeedflskpsalppgspafyh 11BR019 ENSG00000285245.1 ENSG00000196422.11 -/- +/- chr9:133100268 chr9:135488224 CDS/splice-site 3'UTR duplication/5'-5' 1 3 0 93 41 high out-of-frame . . . . ENSG00000285245.1 ENSG00000196422.11 ENST00000647146.1 . upstream downstream . ^(CTCTTTTCTGTCTGGCCCGCGGCCCCGCTGCCTGCCCTGCTCCAGGCTCCACCTGCGCCGCCGATCGCCCGGGTATCGCGGGGGCCCAGGCCAGCTGAGTCCGTTTTCCGCGCCGGGGTGGCGCCCCTCCAACCGTCCTAACGCCGGGCCGGCAGCAAGGA___GTGTTCCTGGGACCTCAGAGACCAGGCTCAGAGCCTGACATCCCTGCGAGGGGACAGCCTCATCCGCCCAGGCCAGTGGGGGTCTCTACAAGTGCCCAGGCTCAGGTGCAGCCCCCAGCAATGCATCGCCGGAGACTGGCCCTGGGTCTGGGGTTCTGCCTGTTGGCGGGCACAAGCCTCAGTGTCCTGTG___GGTGTATCTTGAGAACTGGCTGCCAGTCTCCTATGTCCCCTATTATCTCCCCTGCCCAGAGATCTT___ACCCATGATGATGGCTCTTTCTTGCCTCTGCCACCAGCAACATGAAGCTGCACTACAAGAGGGAGAAGCCACTCCAGCCCGTGGTATG___GTCACAGTACCCTCAGCCCAAGCTGCTGGAGCACAG___GCCCACACAGCTGCTGACACTCACACCCTGGTTGGCGCCCATCGTCTCCGAGGGAACCTTCAACCCAGAGCTTCTGCAGCACATCTACCAGCCACTGAACCTGACCATTGGGGTCACGGTGTTTGCCGTGGGGAA___AGCTCCACGCAGGAGATCGGTGAGGAGCTGATCAACGGAGTCATCTACTCCATCTCCCTGCGCAAGGTGCAGCTGCACCACGGAGGCAACAAGGGGCAGCGCTGGCTCGGG___TATGAGAATGAGTCGGCCCTGAACCTTTATGAGACTTGCAAGGTGCGGACCGTGAAGGCTGGCACGCTGGAGAAGCTGGTGGAGCACCTGGTGCCAGCCTTCCAGGGCAGCGACCTCTCCTACGTCACCATCTTCCTGTGTACCTATAGAGCCTTCACCACCACCCAACAGGTCCTGGACCTGCTGTTCAAAAG___GTACGGTAGATGTGACGCCCTCACGGCCTCCTCTAGATACGGCTGCATCCTCCCCTATTCCGACGAGGATGGTGGACCCCAGGACCAACTTAAAAA___TGCCATCTCCTCCATCCTGGGCACCTGGCTGGACCAGTACTCGGAGGATTTCTGTCAACCTCCGGACTTTCCCTGCCTCAAGCAGCTGGTGGCCTACGTGCAGCTCAACATGCCAGGCTCAGACCTGGAGCGCCGTGCCCACCTTCTCCTGGCCCAGCTGGAGCACTCGGAACCCATTGAGGCAGAGCCTGAGG___CTCTGTCACCAGTGCCAGCTCTAAAACCAACTCCAGAGCTCGAGCTAGCTCTAACACCAGCTCGAGCACCCAGCCCAGTGCCGGCTCCAGCCCCGGAGCCAGAGCCAGCTCCAACACCAGCTCCAGGTTCAGAGCTAGAAGTAGCTCCAGCACCAGCTCCGGAGCTCCAGCAGGCTCCAGAGCCAGCTGTGGGACTAGAATCGGCTCCAGCGCCAGCTCTGGAACTAGAGCCAGCTCCAGAACAGGATCCAGCTCCCTCACAAACTCTAGAGCTGGAGCCAGCTCCAGCACCAGTTCCATCATTACAGCCTTCCTGGCCTTCACCTGTGGTTGCAGAGAACGGGCTGAGTGAGGAGAAGCCTCACCTCTTGGTGTTCCCTCCAGATCTGGTGGCAGAGCAGTTTACACTGATGGATGCG___GAACTGTTCAAGAAGGTGGTGCCCTACCACTGCCTGGGCTCCATCTGGTCCCAGCGGGACAAGAAGGGCAAGGAGCACCTGGCGCCCACCATCCGCGCCACTGTCACCCAGTTCAACAGTGTGGCCAACTGTGTCATCACCACCTGCCTCGGGAACCGAAGCACGAAAGCCCCAGACAGGGCCAGGGTGGTGGAGCACTGGATCGAGGTGGCCAGG___GAGTGCCGGATCCTCAAGAACTTCTCGTCACTGTATGCCATCCTCTCTGCCCTGCAGAGCAACTCCATCCACCGTCTGAAGAAGACGTGGGAAGACGTTTCCAG___GGACAGTTTCCGGATCTTTCAGAAGCTGTCAGAGATCTTCTCAGATGAGAACAACTACTCATTGAGCCGGGAGCTGCTCATCAAG___GAGGGCACCTCCAAGTTTGCCACCCTGGAGATGAACCCCAAGAGAGCCCAGAAACGGCCGAAGGAGACG___GGCATCATCCAGGGCACCGTTCCCTACCTGGGCACGTTCCTCACCGACCTGGTGATGCTGGACACTGCCATGAAGGACTATCTGTAT___GGCAGACTCATCAACTTTGAGAAGAGGAGGAAG___GAGTTCGAGGTGATCGCCCAGATCAAGCTGCTGCAGTCGGCCTGCAACAACTACAGCATCGCGCCAGATGAGCAATTTGGGGCCTGGTTCCGGGCCGTGGAGCGGCTCAGCGAGACTGAGAG___CTACAACCTGTCGTGCGAGCTGGAGCCCCCATCCGAGTCAGCCAGCAACACCCTCAGGACCAAGAAGAACACAGCCATTGTCAAGCGCTGGAGCGA___CCGCCAGGCCCCCAGCACTGAGCTCAGTACCAGTGGCAGCTCCCACTCCAAGTCCTGTGACCAGCTCAGGTGTGGCCCCTACCTCAGCAGCGGGGACATCGCTGACGCGCTCAGCGTGCACTCGGCCGGCTCCTCTAGCTCCGACGTGGAGGAGATCAACATCAGCTTCGTCCCGGAGTCTCCTGATGGCCAGGAAAAGAAG___TTCTGGGAATCAGCCTCACAGTCATCCCCGGAGACCTCCGGCATCAGCTCAGCCTCCAGCAGCACCTCGTCCTCCTCAGCCTCCACCACGCCCGTGGCTGCCACACGCACCCACAAGCGCTCTGTCTCAGGGCTCTGCAACTCCAGCTCCGCGCTGCCGCTCTACAACCAGCAGGTGGGCGACTGCTGTATCATCCGCGTCAGCCTGGACGTGGACAATGGCAACATGTACAAGAGCATCCTG___GTGACCAGCCAAGATAAGGCTCCGGCTGTAATCCGCAAGGCCATG)GACAAACACAACCTGGAGGAGGAGGAGCCGGAGGACTATGAGCTGCTGCAGATTCTCTCAGATGACCGGA|CCACGGAACCATCACACACACGCACGGCTACGCCGCTTTCCACGAATGCACGCAACCCAGGACGCGAACC MHRRRLALGLGFCLLAGTSLSVLWVYLENWLPVSYVPYYLPCPEILPMMMALSCLCHQQHEAALQEGEATPARGMVTVPSAQAAGAQAHTAADTHTLVGAHRLRGNLQPRASAAHLPATEPDHWGHGVCRGESSTQEIGEELINGVIYSISLRKVQLHHGGNKGQRWLGYENESALNLYETCKVRTVKAGTLEKLVEHLVPAFQGSDLSYVTIFLCTYRAFTTTQQVLDLLFKRYGRCDALTASSRYGCILPYSDEDGGPQDQLKNAISSILGTWLDQYSEDFCQPPDFPCLKQLVAYVQLNMPGSDLERRAHLLLAQLEHSEPIEAEPEALSPVPALKPTPELELALTPARAPSPVPAPAPEPEPAPTPAPGSELEVAPAPAPELQQAPEPAVGLESAPAPALELEPAPEQDPAPSQTLELEPAPAPVPSLQPSWPSPVVAENGLSEEKPHLLVFPPDLVAEQFTLMDAELFKKVVPYHCLGSIWSQRDKKGKEHLAPTIRATVTQFNSVANCVITTCLGNRSTKAPDRARVVEHWIEVARECRILKNFSSLYAILSALQSNSIHRLKKTWEDVSRDSFRIFQKLSEIFSDENNYSLSRELLIKEGTSKFATLEMNPKRAQKRPKETGIIQGTVPYLGTFLTDLVMLDTAMKDYLYGRLINFEKRRKEFEVIAQIKLLQSACNNYSIAPDEQFGAWFRAVERLSETESYNLSCELEPPSESASNTLRTKKNTAIVKRWSDRQAPSTELSTSGSSHSKSCDQLRCGPYLSSGDIADALSVHSAGSSSSDVEEINISFVPESPDGQEKKFWESASQSSPETSGISSASSSTSSSSASTTPVAATRTHKRSVSGLCNSSSALPLYNQQVGDCCIIRVSLDVDNGNMYKSILVTSQDKAPAVIRKAMDKHNLEEEEPEDYELLQILSDDR|ttepshtrtatplstnarnpgre 11BR019 ENSG00000147905.17 ENSG00000120162.10 +/+ -/+ chr9:37126942 chr9:27458256 CDS/splice-site intron duplication/5'-5' 0 3 1 57 6 high out-of-frame . . . . ENSG00000147905.17 ENSG00000120162.10 ENST00000336755.9 . downstream upstream . ^(CTCCTTACCTCATTTGTCCTCGCCCCTCCCCGTCCCTCTACGCGTTTTGGTTCCCGGTTGGTGCTTCCTGTTCGCAGCTGCGGCA___CTTCAAGGTTACTGACTTTTTATGATGTTTGGTGGCTATGAGACTATAGAAGCATACGAAGATGATCTTTATCGAGATGAGTCATCTAGTGAACTGAGTGTTGATAGTGAGGTGGAATTTCAACTCTATAGCCAAATTCATTATGCCCAAGATCTTGATGATGTCATCAGGGAGGAAGAGCATGAAGAAAAGAACTCTGGGAATTCGGAATCTTCGAGTAGTAAACCAAATCAGAAGAAGCTAATCGTCCTTTCAGATAGTGAGGTCATCCAGCTGTCAGATGGGTCAGAGGTCATCACTTTGTCTGATGAAGACAGTATTTATAGATGTAAAGGAAAGAATGTTAGAGTTCAAGCACAAGAAAATGCCCATGGTCTTTCTTCTTCTCTTCAATCTAATGAGCTGGTTGATAAGAAATGCAAGAGTGATATTGAGAAGCCTAAATCTGAAGAGAGAT)CAGGTGTAATCCGAGAGGTCATGATTATAGAGGTCAGTTCAAGTGAAGAGGAAGAGAGCACCATTTCAGAAGGTGATAATGTGGAAAGCTGGATGCTACTGGGATGTGAAGTAGATGATAAAGATGATGATATCCTTCTCAACCTTGTGGGATGTGAAAACTCTGTTACTGAAG|CCAGGAGTGTCTGCTTGCATGGACACCATTGTGGAAACCTTCCTCCGCACCTGTGCCAGGCTCTTGTGGATGCCATCAACAAACCCCTCTGACACCTCTGACGGGAGCATGTGAATAACACCGAATAATCACAACAAATCCTCCTCATCATAAAGCCTTGCGTGG MMFGGYETIEAYEDDLYRDESSSELSVDSEVEFQLYSQIHYAQDLDDVIREEEHEEKNSGNSESSSSKPNQKKLIVLSDSEVIQLSDGSEVITLSDEDSIYRCKGKNVRVQAQENAHGLSSSLQSNELVDKKCKSDIEKPKSEERSGVIREVMIIEVSSSEEEESTISEGDNVESWMLLGCEVDDKDDDILLNLVGCENSVTE|arsvclhghhcgnlpphlcqalvdainkpl* 11BR019 ENSG00000132199.20 ENSG00000271239.1(118442),ENSG00000271101.1(114325) -/- ./+ chr18:706470 chr17:70897672 CDS/splice-site intergenic translocation 1 2 0 87 5 high out-of-frame . Mandelate_racemase_/_muconate_lactonizing_enzyme__N-terminal_domain(100%)| . . ENSG00000132199.20 . ENST00000383578.7 . upstream upstream . ^(CGCCCTCCCGCCGCGCGCTCGGGATCCCGACCAGTCCTGACCGCACGGGGGCCGCGGCCACGGGGCGCAGGGGCCATGGTGCGCGGCAGGATCT)CCCGGCTCTCGGTCCGGGACGTGCGCTTCCCCACGTCGCTTGGGGGCCACGGCGCGGACGCCATG___CACACGGACCCTGACTACTCGGCTGCCTATGTCGTCATAGAAACTGATGCAGAAGATGGAATCAAGGGGTGTGGAATTACCTTCACTCTGGGAAAAGGCACTGAAGTTG|AAGCAGAAGCTGCCAGTGCTGGTCCCAGAAGTAACAACCCAGATCCTGAAGGCATCTTTCCTGGAAGTTTTCCTAAAAGATGATCCAAACACCTAACTAACTATACTGATTTACAACAGCACCAACAACATCAACAACAAACCTAAGGCCCAGAG MQKMESRGVELPSLWEKALKL|kqklpvlvpevttqilkasflevflkddpnt* 11BR019 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 1 2 0 100 8 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACA)ATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAG(CAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 11BR019 ENSG00000078687.17 ENSG00000161609.10 +/+ +/+ chr17:78037403 chr19:49397651 intron CDS/splice-site translocation 1 2 0 41 59 high . . |Coiled-coil_region_of_CCDC155_or_KASH(100%) . . ENSG00000078687.17 ENSG00000161609.10 . ENST00000447857.8 downstream upstream . GGGAAGAAGATGCTAGCCTTTCAGAACGGTGGTTTTGTCATGTGTGTCTTCATTTGTTCATTGAGCAGAACATTTGTTGAATGCCTACCAAACATCACATACCCTGCACTGGGGATGGACAATTCATGAGTGAAGTGTTTTGGAATAACCAATAA|GATGCCCAGAAGCTGAGGAGCCAGCCAACCTGGAGAGCTTCGGAGGCGAAGACCCCAGACCCGAGCT___ACAAGCCACAGCTGACCTGCTGAGCAGCCTGGAGGACCTGGAGCTCAGCAACCGACGTCTGGTTGGGGAGAATGCCAAAcTGCAGCGGAGCATGGAGACAGCTGAGGAGGGGTCAGCACGCCTTGGGGAGGAG(ATCTTGGCTCTGCGTAAGCAGCTTCACAG___CACCCAGCAGGCCCTGCAGTTTGCCAAGGCCATGGATGAGGAGCTGGAGGACCTGAAGACTCTGGCCAGGAGCCTGGAGGAACAGAATCGCAGCCTTCTGGCCCAAGCCCGGCAGGCG___GAAAAGGAGCAGCAGCATCTGGTGGCTGAGATGGAGACTCTGCAGGAGGAG___AACGGGAAGCTGCTTGCCGAGCGGGATGGAGTGAAAAAGAGAAGTCAGGAGCTGGCCATGGAGAAGGACACTTTGAAG___CGGCAGCTCTTTGAGTGTGAACACCTCATTTGCCAAAGAGACACCATCCTCTCTGAG___CGCACTCGCGATGTGGAGAGCCTGGCCCAGACCCTGGAAGAATACAGAGTGACGACGCAG___GAACTGAGGCTGGAGATTTCACGCCTGGAGGAGCAGCTGAGTCAGACCTATGAGGGGCCCGATGA___GCTACCTGAAGGGGCCCAGCTGAGAAGAGTGGGCTGGACCGAGCTGCTACCCCCATCGCTGGGCTTGGAGATCGAGGCCATTCGACAG___AAACAGGAAGTGGCAACTGCTGATCTCTCCAACCCTCTGTGTGGGGTGTGGCAGTGGGAGGAAGTCATCCATGAGACCAGTGAGGAAACTGAGTTTCCATCTGAAGCCCCAGCTGGGGGACAG___AGAAACTTCCAGGGAGAGCCAGCGCACCCTGAAGAAGGAAGGAAGGAGCCATCCATGTG___GTTGACCAGAAGAGAGGAAGAGGAGGATGCAGAGAGCCAGGTCACG___GCTGATCTCCCTGTCCCTCTAGGAGCCCCTCGCCCTGGAGACATCCCAGAAAACCCTCCAGAGAG___ACCTGCGCGGCGGGAACTCCAGCAAGCCCTGGTGCCTGTGATGAAAAAGCTGGTCCCAGTCAGGAGGAGGGCCTGGGGCCAGCTCTGCCTGCCCCCACAGCGGCTCAG___AGTCACTCGACATCCACTGATCCCAGCTCCTGTCCTGGGCCTGCTGCTGCTGCTGCTGCTCTCTGTCCTGCTGCTTGGCCCGTCCCCACCTCCCACCTGGCCCCACCTCCAGCTCTGCTACCTCCAGCCCCCTCCAGTGTGAGAGGCTCTACTTGCCCCTCAGAGCAGTGTCTAGCTCAATAAATCCCCTGGCCCTCTCTCCACTGGGATCCCCATTGTTAGTCCACTGTTGCGCAGGCTTACCCTAGATAGAGTACAGGGGATCCACATCCCTGTATTTTTATGTGAAGTCTCCTAGTTTTTTAATGCTGACATTTCTTAACAATAGCAAAACTCCCCCAGTAATGGATTAAGCACTAAGGATTATTCCCTCACAAAACAAGCCTGGCGAGGGCAGCTGTGGGCACACAGCTAAGTCTCGGTTGCCTTGGGGTCAGGGCCTCAGTGATTCTCCTGTCCCCTCCCTCATGCTCAGGAGTTGGCAGTTGTAGCTTCCTACATCACATCTGCGGGAAACGGAAATTTCTTCCTTCCTTTTTATAAAGAGAGGCAGTAGCCTCAGTGTGCAGTGGGTAGATTCAAATCATATTCATAATAAAAGAGAAGCAGTTGCCTGCCCAGA)$ . 11BR019 ENSG00000254004.7 ENSG00000224476.3(19827),ENSG00000264423.2(934) -/- ./+ chr19:36528219 chr19:41189993 5'UTR/splice-site intergenic inversion 1 1 0 19 2 high . . . . . ENSG00000254004.7 . ENST00000523638.6 . upstream upstream . ^AGGAGTGCGCAGGCGCGGAATCTCCGACTTGCCATGGTCGTCTTTGTCTGCCG|ACGGAGTTTCACTCTTGTTGCCCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACGG . 11BR019 ENSG00000213958.2(12786),ENSG00000150722.10(10604) ENSG00000150722.10 ./+ +/+ chr2:181975264 chr2:182061442 intergenic CDS/splice-site deletion/read-through 38 8 0 134 1987 medium . . . . . . ENSG00000150722.10 . ENST00000409702.1 downstream upstream duplicates(2),mismatches(1) CTTTTGGCCTAAGGACACAGTGAAAAATGTACCGAGACCTTGGAGAGCCACGAACCAAGAAACTTCAGAAACCTCTGATATCTGATCAAGAGTTAAGAGACGTCAGAATCATCACAACTGACAAAAG___AATGTTTTCTCTCTTCAAGATTCTCTTTTGAAAGACATCTAAAAAG|AAATAGATGACAAGAGGGGGCCCAACACACAAGGGGAA___TTACAGAATGCATCCCCTAAGCAAAGGAAGCAGAGTGTGTACACACCACCCACCATAAAAG___GGGTTAAGCATCTGAAAGGCCAGAATGAATCAGCATTCCCTGAAGAAGAAGAAGGCACCAATGAAAGAGAGGAGCAGCGGGACCATTAATTACTGGTCTGCAGCAAGAAGGCTTCTTGGAAATAACTGAACTATTAACTTTTCTGAGTATACCATGG(AATTCCACTGCTTGACTTCCAGAAGCATCCTCCATCTCTGCACCCCACACTCATACAGTAGCTATGCACATCCTGGAAGTCTCCTTGACTGAACTTTAGAACTAA___GTGCAAAATGAGTTGATAACAACCAGAAGTTGACTTGTTAGTGCTGTGCTTCTACTCGAGCTTGGAAAAATCCCAACACAAAACAAACACCACCTCCGATTCCATCATGATGCCACGTTGCTTTCTACTGGATTACCTCCTGAAGCACTTTAGATATTTTATACATAAGTATTGACATGTTTTTCAGAAGCTGTTTCTTCACTTATTGCTTTTTTCTAATAATTTTTATTACACCATTTGCCAAGTCCTTCCCTTTGGTTTTAGTTTATTCCTCTCTACAACTAAAAAAGGGATCTTGAGTTTAGGTACATTTTAAGTGATTCATTTTTAGTTTTTCTAATTCTGGAATCTGAGCCTTCTCTTACAACAGGGAGTCTTTCAAAAACATTTTTTTGTTTCTTTTTCAAATTCCACTGTGTTTATTTATTGCCTTGTTTCTTTTTCAAATTCCATTGGTCTTGATTTAATTTAGTTCCACAGATTTTACTGATAGTCTACTACCTGCCAACTACTGAATTATGCAGCAGACTTATAAAAATAAAAAGGCTATTTTATTGTTATTGCC)$ . 11BR019 ENSG00000104447.12 ENSG00000249917.3 -/- -/- chr8:115413647 chr8:116320051 3'UTR intron duplication 6 2 2 66 3 medium stop-codon . GATA_zinc_finger(100%)| . . ENSG00000104447.12 ENSG00000249917.3 ENST00000395715.7 . upstream downstream duplicates(1),mismatches(1) ^(AATAGTGTTGGTGTCTTGAAACTGACGTAATGCGCGGAGACTGAGGTCCTGACAAGCGATAACATTTCTGATAAAGACCCGATCTTACTGCAATCTCTAGCGTCCTCTTTTTTGGTGCTGCTGGTTTCTCCAGACCTCGCGTCCTCTCGATTGCTCTCTCGCCTTCCTATTTCTTTTTTTTTTTTTTAAACAAAAAACAACACCCCCTCCCCTCTCCCACCCGGCACCGGGCACATCCTTGCTCTATTTCCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTTTTAATAAGGGTGGGGGAGGGAAAGGGGGGGGAGGCAGGAAAGACCTTTTTCTCTCCCCCCCGCAATAATCCAAGATCAACTCTGCAAACAACAGAAGACGGTTCATGGCTTTGGCCGCCGCGCCACCATCTTTCGGGCTGCCGAGGGTGTTCTTGACGATTAATCAACAG___ATGTACAGATCAGCTCTCAAAATGTCTTCTGTGTCTTCTGAGCGTCTTCTAAGACAATTGCATTAGCCTCCTGCTAGTTGACTAATAGAATTAATAATTGTAAAAAGCACTCTAAAGCCACATGCCTTATGAAGTCAATGCTGGGTATGATTTTACAA___ATATGGTCCGGAAAAAGAACCCCCCTCTGAGAAACGTTGCAAGTGAAGGCGAGGGCCAGATCCTGGAGCCTATAGGTACAGAAAGCAAGGTATCTGGAAAGAACAAAGAATTTTCTGCAGATCAGATGTCAGAAAATACGGATCAGAGTGATGCTGCAGAACTAAATCATAAGGAGGAACATAGCTTGCATGTTCAAGATCCATCTTCTAGCAGTAAGAAGGACTTGAAAAGCGCAGTTCTGAGTGAGAAGGCTGGCTTCAATTATGAAAGCCCCAGTAAGGGAGGAAACTTTCCCTCCTTTCCGCATGATGAGGTGACAGACAGAAATATGTTGGCTTTCTCATCTCCAGCTGCTGGGGGAGTCTGTGAGCCCTTGAAGTCTCCGCAAAGAGCAGAGGCAGATGACCCTCAAGATATGGCCTGCACCCCCTCAGGGGACTCACTGGAGACAAAGGAAGATCAGAAGATGTCACCAAAGGCTACAGAGGAAACAGGGCAAGCACAGAGTGGTCAAGCCAATTGTCAAGGTTTGAGCCCAGTTTCAGTGGCCTCAAAAAACCCACAAGTGCCTTCAGATGGGGGTGTAAGACTGAATAAATCCAAAACTGACTTACTGGTGAATGACAACCCAGACCCGGCACCTCTGTCTCCAGAGCTTCAGGACTTTAAATGCAATATCTGTGGATATGGTTACTACGGCAACGACCCCACAGATCTGATTAAGCACTTCCGAAAGTATCACTTAGGACTGCATAACCGCACCAGGCAAGATGCTGAGCTGGACAGCAAAATCTTGGCCCTTCATAACATGGTGCAGTTCAGCCATTCCAAAGACTTCCAGAAGGTCAACCGTTCTGTGTTTTCTGGTGTGCTGCAGGACATCAATTCTTCAAGGCCTGTTTTACTAAATGGGACCTATGATGTGCAG___GTGACTTCAGGTGGAACATTCATTGGCATTGGACGGAAAACACCAGATTGCCAAGGGAACACCAAGTATTTCCGCTGTAAATTCTGCAATTTCACTTATATGGGCAACTCATCCACCGAATTAGAACAACATTTTCTTCAGACTCACCCAAACAAAATAAAAGCTTCTCTCCCCTCCTCTGAGGTTGCAAAACCTTCAGAGAAAAACTCTAACAAGTCCATCCCTGCACTTCAATCCAGTGATTCTGGAGACTTGGGAAAATGGCAGGACAAGATAACAGTCAAAGCAGGAGATGACACTCCTGTTGGGTACTCAGTGCCCATAAAGCCCCTCGATTCCTCTAGACAAAATGGTACAGAGGCCACCAGTTACTACTGGTGTAAATTTTGTAGTTTCAGCTGTGAGTCATCTAGCTCACTTAAACTGCTAGAACATTATGGCAAGCAGCACGGAGCAGTGCAGTCAGGCGGCCTTAATCCAGAGTTAAATGATAAGCTTTCCAGGGGCTCTGTCATTAATCAGAATGATCTAGCCAAAAGTTCAGAAGGAGAGACAATGACCAAGACAGACAAGAGCTCGAGTGGGGCTAAAAAGAAGGACTTCTCCAGCAAGGGAGCCGAGGATAATATGGTAACGAGCTATAATTGTCAGTTCTGTGACTTCCGATATTCCAAAAGCCATGGCCCTGATGTAATTGTAGTGGGGCCACTTCTCCGTCATTATCAACAGCTCCATAACATTCACAAGTGTACCATTAAACACTGTCCATTCTGTCCCAGAGGACTTTGCAGCCCAGAAAAGCACCTTGGAGAAATTACTTATCCGTTTGCTTGTAGAAAAAGTAATTGTTCCCACTGTGCACTCTTGCTTCTGCACTTGTCTCCTGGGGCGGCTGGAAGCTCGCGAGTCAAACATCAGTGCCATCAGTGTTCATTCACCACCCCTGACGTAGATGTACTCCTCTTTCACTATGAAAGTGTGCATGAGTCCCAAGCATCGGATGTCAAACAAGAAGCAAATCACCTGCAAGGATCGGATGGGCAGCAGTCTGTCAAGGAAAGCAAAGAACACTCATGTACCAAATGTGATTTTATTACCCAAGTGGAAGAAGAGATTTCCCGACACTACAG___GAGAGCACACAGCTGCTACAAATGCCGTCAGTGCAGTTTTACAGCTGCCGATACTCAGTCACTACTGGAGCACTTCAACACTGTTCACTGCCAGGAACAGGACATCACTACAGCCAACGGCGAAGAGGACGGTCATGCCATATCCACCATCAAAGAGGAGCCCAAAATTGACTTCAGGGTCTACAATCTGCTAACTCCAGACTCTAAAATGGGAGAGCCAGTTTCTGAGAGTGTGGTGAAGAGAGAGAAGCTGGAAGAGAAGGACGGGCTCAAAGAGAAAGTTTGGACCGAGAGTTCCAGTGATGACCTTCGCAATGTGACTTGGAGAGGGGCAGACATCCTGCGGGGGAGTCCGTCATACACCCAAGCAAGCCTGGGGCTGCTGACGCCTGTGTCTGGCACCCAAGAGCAGACAAAGACTCTAAGGGATAGTCCCAATGTGGAGGCCGCCCATCTGGCGCGACCTATTTATGGCTTGGCTGTGGAAACCAAGGGATTCCTGCAGGGGGCGCCAGCTGGCGGAGAGAAGTCTGGGGCCCTCCCCCAGCAGTATCCTGCATCGGGAGAAAACAAGTCCAAGGATGAATCCCAGTCCCTGTTACGG___AGGCGTAGAGGCTCCGGTGTTTTTTGTGCCAATTGCCTGACCACAAAGACCTCTCTCTGGCGAAAGAATGCAAATGGCGGATATGTATGCAACGCGTGTGGCCTCTACCAGAAGCTTCACTCG___ACTCCCAGGCCTTTAAACATCATTAAACAAAACAACGGTGAGCAGATTATTAGGAGGAGAACAAGAAAGCGCCTTAACCCAGAGGCACTTCAGGCTGAGCAGCTCAACAAACAGCAGAGGGGCAGCAATGAGGAGCAAGTCAATGGAAGCCCGTTAGAGAGGAGGTCAGAAGATCATCTAACTGAAAGTCACCAGAGAGAAATTCCACTCCCCAGCCTAAGTAAATACGAAGCCCAGGGTTCATTGACTAAAAGCCATTCTGCTCAGCAGCCAGTCCTGGTCAGCCAAACTCTGGATATTCACAAAAGGATGCAACCTTTGCACATTCAGATAAAAAGTCCTCAGGAAAGTACTGGAGATCCAGGAAATAGTTCATCCGTATCTGAAGGGAAAGGAAGTTCTGAGAGAGGCAGTCCTATAGAAAAGTACATGAGACCTGCGAAACACCCAAATTATTCACCACCAGGCAGCCCTATTGAAAAGTACCAGTACCCACTTTTTGGACTTCCCTTTGTACATAATGACTTCCAGAGTGAAGCTGATTGGCTGCGGTTCTGGAGTAAATATAAGCTCTCCGTTCCTGGGAATCCGCACTACTTGAGTCACGTGCCTGGCCTACCAAATCCTTGCCAAAACTATGTGCCTTATCCCACCTTCAATCTGCCTCCTCATTTTTCAGCTGTTGGATCAGACAATGACATTCCTCTAGATTTGGCGATCAAGCATTCCAGACCTGGGCCAACTGCAAACGGTGCCTCCAAGGAGAAAACGAAGGCACCACCAAATGTAAAAAATGAAGGTCCCTTGAATGTAGTAAAAACAGAGAAAGTTGATAGAAGTACTCAAGATGAACTTTCAACAAAATGTGTGCACTGTGGCATTGTCTTTCTGGATGAAGTGATGTATGCTTTGCATATGAGTTGCCATGGTGACAGTGGACCTTTCCAGTGCAGCATATGCCAGCATCTTTGCACGGACAAATATGACTTCACAACACATATCCAGAGGGGCCTGCATAGGAACAATGCACAAGTGGAAAAAAATGGAAAACCTAAAGAGTAAAACCTTAGCACTTAGCACAATTAAATAGAAATAGGTTTTCTTGATGGGAATTCAATAGCTTGTAATGTCTTATGAAGACCTATTAAAAAAATACTTCATAGAGCCTGCCTTATCCAACATGA)AATTaaCTTCTTTTGTTATaCTTTCTTTTGATGAtTAGGTTACCAAGATTAAAAAGTGAGATAAATGGTCAATGAGAAAGAATGGAAGATGGTAAACAATCACTTTTTAAAACCTGTTAAGTCAAAACCATCTTGGCTAATATGTACTGGGGAAATAATCCATAAGAGATATCACCAGACTAGAATTAATATATTTATAAAGAAAGAGACCAAAACTGTCTAGAATTTGAAAGGGTTTACATATTATTATACTA|GAATATTTTTGTTTTTTGATGACCAGGCTACGTGGCAAAATATCACCTCCTTAAAAATTTTTCTTTAATGTGTGATTGATTGCATTAATTATTGTTATTATTATTTTTATCAACTCTGATTTTAAGTTCCATGGTACATGCACAGGATGTGCAGGTTTGTTACATAGGTAAACAAATGTCACGGTGGTTTGCTGCACAGATCAACCCATCACCCAGGTATTAAGCACAGGACCCATTAGCTGTTCTTCCTGATGCTCTCCCTTCCCCCGCCCCTGTGGACAGGC . 11BR019 ENSG00000104447.12 ENSG00000249917.3 -/- -/- chr8:115587001 chr8:115977436 CDS/splice-site exon/splice-site duplication 4 0 0 120 10 medium out-of-frame . . . . ENSG00000104447.12 ENSG00000249917.3 ENST00000395715.7 ENST00000505156.2 upstream downstream . ^(AATAGTGTTGGTGTCTTGAAACTGACGTAATGCGCGGAGACTGAGGTCCTGACAAGCGATAACATTTCTGATAAAGACCCGATCTTACTGCAATCTCTAGCGTCCTCTTTTTTGGTGCTGCTGGTTTCTCCAGACCTCGCGTCCTCTCGATTGCTCTCTCGCCTTCCTATTTCTTTTTTTTTTTTTTAAACAAAAAACAACACCCCCTCCCCTCTCCCACCCGGCACCGGGCACATCCTTGCTCTATTTCCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTTTTAATAAGGGTGGGGGAGGGAAAGGGGGGGGAGGCAGGAAAGACCTTTTTCTCTCCCCCCCGCAATAATCCAAGATCAACTCTGCAAACAACAGAAGACGGTTCATGGCTTTGGCCGCCGCGCCACCATCTTTCGGGCTGCCGAGGGTGTTCTTGACGATTAATCAACAG___ATGTACAGATCAGCTCTCAAAATGTCTTCTGTGTCTTCTGAGCGTCTTCTAAGACAATTGCATTAGCCTCCTGCTAGTTGACTAATAGAATTAATAATTGTAAAAAGCACTCTAAAGCCACATGCCTTATGAAGTCAATGCTGGGTATGATTTTACAA___ATATGGTCCGGAAAAAGAACCCCCCTCTGAGAAACGTTGCAAGTGAAGGCGAGGGCCAGATCCTGGAGCCTATAGGTACAGAAAGCAAGGTATCTGGAAAGAACAAAGAATTTTCTGCAGATCAGATGTCAGAAAATACGGATCAGAGTGATGCTGCAGAACTAAATCATAAGGAGGAACATAGCTTGCATGTTCAAGATCCATCTTCTAGCAGTAAGAAGGACTTGAAAAGCGCAGTTCTGAGTGAGAAGGCTGGCTTCAATTATGAAAGCCCCAGTAAGGGAGGAAACTTTCCCTCCTTTCCGCATGATGAGGTGACAGACAGAAATATGTTGGCTTTCTCATCTCCAGCTGCTGGGGGAGTCTGTGAGCCCTTGAAGTCTCCGCAAAGAGCAGAGGCAGATGACCCTCAAGATATGGCCTGCACCCCCTCAGGGGACTCACTGGAGACAAAGGAAGATCAGAAGATGTCACCAAAGGCTACAGAGGAAACAGGGCAAGCACAGAGTGGTCAAGCCAATTGTCAAGGTTTGAGCCCAGTTTCAGTGGCCTCAAAAAACCCACAAGTGCCTTCAGATGGGGGTGTAAGACTGAATAAATCCAAAACTGACTTACTGGTGAATGACAACCCAGACCCGGCACCTCTGTCTCCAGAGCTTCAGGACTTTAAATGCAATATCTGTGGATATGGTTACTACGGCAACGACCCCACAGATCTGATTAAGCACTTCCGAAAGTATCACTTAGGACTGCATAACCGCACCAGGCAAGATGCTGAGCTGGACAGCAAAATCTTGGCCCTTCATAACATGGTGCAGTTCAGCCATTCCAAAGACTTCCAGAAGGTCAACCGTTCTGTGTTTTCTGGTGTGCTGCAGGACATCAATTCTTCAAGGCCTGTTTTACTAAATGGGACCTATGATGTGCAG___GTGACTTCAGGTGGAACATTCATTGGCATTGGACGGAAAACACCAGATTGCCAAGGGAACACCAAGTATTTCCGCTGTAAATTCTGCAATTTCACTTATATGGGCAACTCATCCACCGAATTAGAACAACATTTTCTTCAGACTCACCCAAACAAAATAAAAGCTTCTCTCCCCTCCTCTGAGGTTGCAAAACCTTCAGAGAAAAACTCTAACAAGTCCATCCCTGCACTTCAATCCAGTGATTCTGGAGACTTGGGAAAATGGCAGGACAAGATAACAGTCAAAGCAGGAGATGACACTCCTGTTGGGTACTCAGTGCCCATAAAGCCCCTCGATTCCTCTAGACAAAATGGTACAGAGGCCACCAGTTACTACTGGTGTAAATTTTGTAGTTTCAGCTGTGAGTCATCTAGCTCACTTAAACTGCTAGAACATTATGGCAAGCAGCACGGAGCAGTGCAGTCAGGCGGCCTTAATCCAGAGTTAAATGATAAGCTTTCCAGGGGCTCTGTCATTAATCAGAATGATCTAGCCAAAAGTTCAGAAGGAGAGACAATGACCAAGACAGACAAGAGCTCGAGTGGGGCTAAAAAGAAGGACTTCTCCAGCAAGGGAGCCGAGGATAATATGGTAACGAGCTATAATTGTCAGTTCTGTGACTTCCGATATTCCAAAAGCCATGGCCCTGATGTAATTGTAGTGGGGCCACTTCTCCGTCATTATCAACAGCTCCATAACATTCACAAGTGTACCATTAAACACTGTCCATTCTGTCCCAGAGGACTTTGCAGCCCAGAAAAGCACCTTGGAGAAATTACTTATCCGTTTGCTTGTAGAAAAAGTAATTGTTCCCACTGTGCACTCTTGCTTCTGCACTTGTCTCCTGGGGCGGCTGGAAGCTCGCGAGTCAAACATCAGTGCCATCAGTGTTCATTCACCACCCCTGACGTAGATGTACTCCTCTTTCACTATGAAAGTGTGCATGAGTCCCAAGCATCGGATGTCAAACAAGAAGCAAATCACCTGCAAGGATCGGATGGGCAGCAGTCTGTCAAGGAAAGCAAAGAACACTCATGTACCAAATGTGATTTTATTACCCAAGTGGAAGAAGAGATTTCCCGACACTACAG___GAGAGCACACAGCTGCTACAAATGCCGTCAGTGCAGTTTTACAGCTGCCGATACTCAGTCACTACTGGAGCACTTCAACACTGTTCACTGCCAGGAACAGGACATCACTACAGCCAACGGCGAAGAGGACGGTCATGCCATATCCACCATCAAAGAGGAGCCCAAAATTGACTTCAGGGTCTACAATCTGCTAACTCCAGACTCTAAAATGGGAGAGCCAGTTTCTGAGAGTGTGGTGAAGAGAGAGAAGCTGGAAGAGAAGGACGGGCTCAAAGAGAAAGTTTGGACCGAGAGTTCCAGTGATGACCTTCGCAATGTGACTTGGAGAGGGGCAGACATCCTGCGGGGGAGTCCGTCATACACCCAAGCAAGCCTGGGGCTGCTGACGCCTGTGTCTGGCACCCAAG)AGCAGACAAAGACTCTAAGGGATAGTCCCAATGTGGAGGCCGCCCATCTGGCGCGACCTATTTATGGCTTGGCTGTGGAAACCAAGGGATTCCTGCAGGGGGCGCCAGCTGGCGGAGAGAAGTCTGGGGCCCTCCCCCAGCAGTATCCTGCATCGGGAGAAAACAAGTCCAAGGATGAATCCCAGTCCCTGTTACGG|GCACATTGAAGAATCAGAAGATGTTTTCCCCCTGTGTTTTTGATGGAAGGAAGAAAGCAGGATTTGCCAGGATGCATTCTGCATCCAAGAACATGAACGGA(AATGAGCCACAGAAAATCTGGAGTGATGGCAGCTGTTGTGAGAGGTGGCAATGAAATGGATTTCTCAGACACAGAGATGTGGTCTCCCACCAG___GTCCCATTTCAGTGTATGGTTTCTTGGATTTCTCTGCCAGCTTCAAACAGTGCTTCTGATAAAGTG___ATTTATGAAGTAATGGGAAATGTATGTTGACTCATGGAGTAACAATGAGGAAATAGGCATTGGCACCAGGACTCTGTTGACATCAGGACTTCAG___TGAGGGGGAAATTCTGCAGAGATGTGCATAAACTCATCGCAGCTGCTCTACCATCTGACAACCTGATGGTCATGGGGGACCTCAATGCACGTGTTGGTGGTAGTGCCAAAATGTGGAAGAAAATTATTGGACCACAGAGGATTAGTCTCTTCCTGCATGGTGAACAGACCGAGCAATAACTTGTAATCACAGACAACAGCGTCAATCATATAAGTTAGGAGAAAAATATCATGGATATGCCACAAATCAAAAACAGTGACATCACACCCATTCTGCCATTGTTTCACAGCAGAATGCCAACAAGCTGACAATCTGAATGGGTCTGAGATCGTTACCCAATATGCTTCAAATCAGGAGAACATACGG___CAACACTCATTGACTTACATATTCTGGGTAAGACACAGAGCAAAGAACTGCAACAGAGGTTAAAGTTTCAGAAAGAG___AAGAAGCAGCCTTCACTATATCAGACAGATGAATCCAGCTCCAATCAATAATTGAGTTTTGGATTGGAGGAAAGAATATTTGGACATTAAAGAAAATAAGCAGAGAGT___GCCTAATCTCTTCAATTCTCAAGATCATGCTTAACATGACCACATTAATTACAGCAGAGTGAGACAGGCACAGAAGAGGAGGGACTTGGAACCTGACCTAAATACAGAAGTGTCAAGCCTAGAAGGAAGTAAAATTTGGAAGAAAGTACATGGCATATGAAAGAAAAATAACAACCCAACAACATCTGACATTATGGAATACTTAAATAAAAATAAAATTTTAGATTCA)$ MPYEVNAGYDFTNMVRKKNPPLRNVASEGEGQILEPIGTESKVSGKNKEFSADQMSENTDQSDAAELNHKEEHSLHVQDPSSSSKKDLKSAVLSEKAGFNYESPSKGGNFPSFPHDEVTDRNMLAFSSPAAGGVCEPLKSPQRAEADDPQDMACTPSGDSLETKEDQKMSPKATEETGQAQSGQANCQGLSPVSVASKNPQVPSDGGVRLNKSKTDLLVNDNPDPAPLSPELQDFKCNICGYGYYGNDPTDLIKHFRKYHLGLHNRTRQDAELDSKILALHNMVQFSHSKDFQKVNRSVFSGVLQDINSSRPVLLNGTYDVQVTSGGTFIGIGRKTPDCQGNTKYFRCKFCNFTYMGNSSTELEQHFLQTHPNKIKASLPSSEVAKPSEKNSNKSIPALQSSDSGDLGKWQDKITVKAGDDTPVGYSVPIKPLDSSRQNGTEATSYYWCKFCSFSCESSSSLKLLEHYGKQHGAVQSGGLNPELNDKLSRGSVINQNDLAKSSEGETMTKTDKSSSGAKKKDFSSKGAEDNMVTSYNCQFCDFRYSKSHGPDVIVVGPLLRHYQQLHNIHKCTIKHCPFCPRGLCSPEKHLGEITYPFACRKSNCSHCALLLLHLSPGAAGSSRVKHQCHQCSFTTPDVDVLLFHYESVHESQASDVKQEANHLQGSDGQQSVKESKEHSCTKCDFITQVEEEISRHYRRAHSCYKCRQCSFTAADTQSLLEHFNTVHCQEQDITTANGEEDGHAISTIKEEPKIDFRVYNLLTPDSKMGEPVSESVVKREKLEEKDGLKEKVWTESSSDDLRNVTWRGADILRGSPSYTQASLGLLTPVSGTQEQTKTLRDSPNVEAAHLARPIYGLAVETKGFLQGAPAGGEKSGALPQQYPASGENKSKDESQSLLR|ah* 11BR019 ENSG00000283496.1 ENSG00000130643.9 +/- -/- chr10:133314536 chr10:133328015 intron CDS/splice-site duplication/3'-3' 3 1 0 5 2 medium . . . . . ENSG00000283496.1 ENSG00000130643.9 . ENST00000368555.3 upstream downstream . GTCGGGAGTTGGTTCCTTCCAGTGGGTTCGTGGTCTTGCTGACTTCAAGAATGGAACTGCGGATCTTCGTG___AGACAAGAGATCGTAGAAATAAAGACGCAAGACAAAGAGATAAAAGACAGCTGGGCCCGGGGGACCACTACCACCAAGACGCGGAGACCGGTAGCGGCCCAG|GTGGTCATCAAGACACAGACAGAATACCAGCTGTCCTCCCCAGACCAGCAGAATTTCCC(TGACCTGGAGGGCCAGAGGCTGAACTGCAGCCACCCAGAGGAAGGGCGCAGGGTAACCACACCCACCCCACCCACTGTGGGGACTCAGGACAGGAGGAGAAGGTGGAAGGCAGCTGGGGGTGCCTGGGTTCCGTCCAGGCCAGTCTGGGGTCCCCTTGCTCTCAGGGAGGAGAGGGTGGCAGTGAGTCATCCCGCCCAGAGCTGGCCCCACCGGCTGCCCTGCACCCACCAGGCCCCCTCCCGAGGCTGCAGGTGCAGACTGACCAAACAGTGGCGCTCCTGAGATGTTTTTCTTTCTGGGAAGTGCCCGCGAGTGCTGCTTGCTTGTTTGCCCAGTGGGTCATTGTCTCATCTTCAGTGACTTACGGGCTTTCTATGTAATACTTCCTTTCTGCAGTATATCTGGCAAATATCTTCTCTCATCCTCTTGTTTAAATCTGTCAATGTTACTAATGATAGCTTTAGTCATTTTTAGTGGACTGTTTCCAAAGCCTTCCATTCTCCAGTAGACAGATCTGCTAGGGCTCCCC)$ . 11BR019 ENSG00000180229.12 ENSG00000260170.1 -/- +/+ chr15:20435849 chr15:45658907 exon/splice-site 5'UTR/splice-site inversion 3 0 0 87 59 medium . . . . . ENSG00000180229.12 ENSG00000260170.1 ENST00000430598.5 ENST00000564080.1 upstream upstream . ^(GGCTGAGCCAGCGGCTCTTGGGAGGCTGCGTCCGCGCGCCGGCGGGGCGGGGCGGCCGGGCCCTGCGCGTCAG___GCCTGAGACCTGGGAGGAAGCTGGAGAAAAGATGCCCTCTGAATCTTTGTGTTTGGCTGCCCAGGCTCGCCTCGACTCCAAATGGTTGAAAACAGATATACAG___CTTTTGTCTGGTCCTCTGAGCCCCAGTGAGAGTTTCCTGAGGTACCTCACCCTTCCACAAGACAACAGGCTTGCCATTGATCTGCAACAAACGGCGGTTGTTGTCATGGCCCATTTAGACCGTCTGGCTACACCCTGTAGATGCCTCCTCTGTGTAGCTCTCCGACGTCTCATAAG___AGTCATTTTTTACAGGTCAGAACTGTAGAAATAATGAGAAAGTGACACTTGTACGCATAGCTGATTTGGAGAACCATAATAACGATGGAGGCTTCTGGACTGTGATTGACGGGAAAGTGTATGATATAAAGGACTTCCAGACACAGTCGTTAACAGAAAATAGTATTCTTG___CTCAGTTTGCAGGGGAAGACCCAGTGGTAGCTTTGGAAGCTGCTTTGCAGTTTGAAGACACCCGGGAATCCATGCACGCATTTTGTGTTGGCCAGTATTTGGAG___CCTGACCAAGAAGGCGTCACCATACCAGATCTGGGGAGTCTCTCCTCACCTCTGATAGACACAGAGAGGAATCTGGGCCTGCTTCTCGGATTACACGCTTCCTATTTAGCAATGAGCACACCGCTGTCTCCTGTCGAGATTGAATGTGCCA___AATGGCTTCAGTCATCCATCTTCTCTGGAGGCCTGCAGACCAGCCAGATCCACTACAGCTACAACGAGGAGAAAGACGAGGACCACTGCAGCTCCCCAGGGGGCACACCTGCCAGCAAATCTCGACTCTGCTCCCACAGACGGGCCCTGGGGGACCATTCCCAGGCATTTCTGCAAGCCATTGCAGACAACAACATTCAGGATCACAACGTGAAG___GACTTTTTGTGTCAAATAGAAAGGTACTGTAGGCAGTGCCATTTGACCACACCGATCATGTTTCCCCCCGAGCATCCCGTGGAAGAGGTCGGTCGCTTGCTGTTATGTTGCCTCTTAAAACATGAAGATTTAG___GTCATGTGGCATTATCTTTAGTTCATGCAGGTGCACTTGGTATTGAGCAAGTAAAGCACAGAACGTTGCCTAAGTCAGTGGTGGATGTTTGTAGAGTTGTCTACCAAGCAAAATGTTCGCTCATTAAG___ACTCATCAAGAACAGGGCCGTTCTTACAAGGAGGTCTGCGCTCCTGTCATCGAACGTTTGAGATTCCTCTTTAATGAATTGAGACCTGCTGTTTGTAATGACCTCTCTATAATGTCTAAGTTTAAATTGTTAAGTTCTTTGCCCCATTGGAGGAGGATAGCTCAGAAGATAATTCGAGAACCAAGGAAAAAGAGAG___TTCCTAAGAAGCCAGAATCTACGGATGATGAAGAAAAAATTGGAAACGAAGAGAGTGATTTAGAAGAAGCTTGCATTTTGCCTCATAGTCCAATAAATGTGGACAAGAGACCCATTGCAATTAAATCACCCAAG___GACAAATGGCAGCCGCTGTTGAGTACTGTTACAGGTGTTCACAAATACAAGTGGTTGAAGCAGAATGTGCAGGGTCTTTATCCGCAGTCTCCACTCCTCAGTACAATTGCTGAATTTGCCCTTAAAGAAGAGCCAGTGGATGTGGAAAAGAGAAAGTGCCTACTAAAACAG___TTGGAGAGAGCAGAGGTTCGCCTGGAAGGGATAGATACAATTTTAAAATTGTATCTGGTGAGCAAGAATTTCTTACTTCCATCTGTGCCGTATGCGATGTTTTGTGGATGGCAAAGACTTATTCCTGAGGGAATCGATATAGG___GGAACCTCTTACTGATTGTTTAAAGGATGTTGATTTGATCCCGCCTTTTAATCGGATGCTGCTGGAAGTCACCTTTGGCAAGCTGTACGCTTGGGCTGTTCAGAACATTCGAAATGTTTTGGTGGATGCCAGTGCCAAATTTAAAGAGCTTG___GTATCCAGCCGGTTCCCCTGCAAACCATCACCAATGAGAACCCATCGGGACCGAGCTTGGGGACCATCCCGCAAGCCCACTTCCTCCTGGTGATGCTCAGCATGCTCACCCTGCAGCACAGCGCAAACAACCTTGACCTCCTGCTCAATTCCGGCACGCTGGCCCTCGCTCAGACGGCACTGCGCCTGATTG___GCCCCAGTTGTGACAGCGTTGAGGAAGATATGAATGCTTCTGCTCAAGGTGCTTCTGCCACAGTTTTGGAAGAAACAAGGAAGGAAACGGCTCCTGTGCAGCTCCCTGTTTCAGGGCCAGAACTGGCTGCCATGATGAAGATTGGAACAAGGGTCATGAGAGGTGTGGACTGGAAATGGGGCGATCAG___GATAGGCCTCCTCCAGGCCTAGGCCGAGTGATTGGTGAGCTGGGAGAGGACGGGTGGATAAGAGTCCAGTGGGACACAGGCAGCACCAACTCCTACAGGATGGGGAAAGAAGGAAATTACGACCTCAAGCTGGCAGAGCTGCCAGCCCCTGCACAGCCCTCAGCAGAGGATTCGGACACAGAGGACGACTCTG___AAGCCGAACAAACTGAAAGGAACATTCACCCCACTGCAATGATGTTTACCAGCACTATTAACTTACTGCAGACTCTTTGTCTGTCTGCTGGAGTTCATGCTGAGATCATGCAGAGTGAAGCCACCAAGACTTTATGCGGACTGCTGCAAAT___GCTGGTGTACAGGGAGCAACACCGGAGCTGGTGCACGCTGGGGTTTGTGCAGAGCATCGCTCTCACGCTGCAGGTGTGCGGCACCCTCAGCTCCCTGCAGTGGATCACGCTGCTCATGAAGGTCGTGGAAGGGCACGCACCCTTCACTGCCACCTCGCTGCAGAGGCAG___ATCTTAGCTGTGCATTTGTTGCAAGCAGTCCTTCCGTCATGGGACAAGACCGAAAGGGCGAGGGACATGAAATGCCTCATGGAGAAGCTGTTTGACTTCTTGGGGAGCTTGCTCACTATGTGCTCCTCTGACGTGCCGTTACTCAGAG___AGTCCACGCTGAGGCGGCGCAGGGTGTGCCCGCAGGCCTCGCTGACTGCCACCCACAGCAGCACACTGGCGGAGGAGGTGGTGGCACTGCTGCACACGCTGCACTCCCTGACTCAGTGGAATGGGCTCATCAACAAGTACATCAACTCCCAGCTCCGCTCCATCACCCACAGCTTTGCGGGAAGGCCTTCCAAAGGG___GCCCAGTTAGAGGACTACTTCCCTGATTCCGAGAACCCTGAAGTGGGGGGCCTCATGGCGGTCCTGGCTGTGGTTGGAGGCATCGATGGTCGCCTGTGCCTGGGCGGCCAAGTTGTGCACGATGACTTTGGAGAAGTCACCATGACTCGCATCACCCTGAAGGGCAAAATCACCGTGCAGTTCTCTGACATGCGGACGTGTCACGTTTGCCCATTGAATCAGCTGAAACCA___CTCCCTGCCGTGGCCTTTAATGTGAACAACCTGCCCTTCACAGAGCCCATGCTGTCTGTCT)GGGCTCAGTTGGTGAACCTCGCTGGAAGCAAGTTAGAAAAGCACAAAATAAAGAAATCGACTAAACAGGCCTTTGCAG___GACAAGTGGACCTGGACCTGCTGCGGTGCCAGCAGTTGAAGCTATACATCCTGAAAGCAGGTCGGGCGCTGTTCTCCCACCAGGATAAACTGCGGCAGATCCTGTCTCAGCCAGCTGTTCAGGAGACTGGAACTGTTCACACAG|CCTGATCCTGCCTGAAGATGGTGCCACTGGTGGCTGTGGTATCAGGGCCCCGTGCCCAGCTCTTTGCCTGCCT(GCTCAGGCTGGGCACTCAGCAGGTCGGCCCCCTTCAGCTGCACACCGGGGCCAGCCATGCGGCCAGGAACCATTATGAGGTGCTGGTGCTGGGTGGGGGCAGTGGCGGAATCACCATGGCTGCCCGCATGAAGAGGAAAGTGGGTGCAGAGAATGTGGCCATTGTTGAGCCCAGTGAG___AGACATTTCTACCAGCCAATCTGGACACTGGTGGGTGCTGGTGCCAAACAATTGTCCTCATCTGGTCGTCCCACGGCAAGTGTGATTCCATCTGGTGTAGAATGGATCAAAGCTAGAGTGACTGAGTTGAACCCAGACAAGAACTGCATTCACACAGATGACGACGAGAAG___ATCTCCTACCGATATCTTATTATTGCTCTCGGAATCCAGCTGGACTATGAGAAG___ATTAAAGGCCTACCTGAAGGTTTCGCTCATCCCAAAATAGGGTCGAATTATTCAGTTAAGACTGTAGAGAAGACATGGAAAGCTCTGCAGGACTTCAAAGAGGGCAATGCCATCTTCACCTTCCCAAATACTCCAGTGAAGTGTGCTGGAGCCCCTCAGAAGATCATGTACTTATCAGAAGCCTACTTCAGGAAG___ACAGGGAAGCGATCCAAGGCCAATATCATTTTCAACACTTCTCTTGGAGCCATTTTCGGGGTTAAGAAGTATGCAGATGCCCTGCAGGAGATCATCCAGGAGCGGAACCTCACTGTTAACTACAAGAAAAACCTCATTGAAGTCCGAGCCGATAAACAAGAGGCTGTATTTGAGAACCTGGACAAACCAGGAGAGACCCAAGTGATTTCAGTGA)$ . 11BR019 ENSG00000007545.16 ENSG00000260923.7 +/+ +/- chr16:1641187 chr16:90210357 CDS/splice-site intron inversion/3'-3' 0 3 0 33 11 medium out-of-frame . . . . ENSG00000007545.16 ENSG00000260923.7 ENST00000397412.8 . downstream downstream . ^(GAGGTCCCCACCGGCCGCCGTAGCCGGAACTGCTGCTGAGGGCGGCGGGCCGGCTTCGCTAGGGTGAGTGGCGGCAGTATCTGCGTCCGCAGCCCCCGCAGCCGCGCGCCGGCCCGCGGAGGGGACGTGCCGGGGCTAGCGCCGCTCGACCAGTCGCTTCCGAGGCGGACGACCAGCCCGGCGTTGCGGCCTCCCTGCAGCCGGCGCTCGGGGGCCGGGGCTGCCCGGCCCGGCTGGTTCTGCGGGCACCCGGGGAGGCCCCGGGAAGCCAGGCTGCCGCCCGGCGTTGATGAAAAAG___GATGACAGTGAAGTTGGGCGACGGCGGCAGCGGGGAGGACGGGCTCAAGAAGCTGGGCAAGCGGGCGGCCGATGAGGAGTCCCTGGAAGGAGAAGGGGCCGGCGGCGCAGACGCGGCCGAGGAGAGCAGCGGCACAAAGAGGGACGAGAAGACCCCCCGGGCCGGCGCCGACGGCCCCCCCGCGCCCCCCGGCGCGCCGCAGGCGCCGTCCCCGCCGCAGGGCAGCCCCCAGGACCAGCACCACTTCCTCCGGTCCAGCGTGCGGCCGCAGAGCAAGAGGCCCAGGAAGGATCCTCCGAGCGCTGTGGGGAGCGGCAACGCCGGTGGCTCGGGGCCCCGCGGAAAAG___GAGCTGAAGGTGGTGGATCATCGTCTGGAAATGTGTCTGGGGTTGCCCCTGCTGCCCCTGCAGGGGGCTCGCGCTCCTCCTCCCGGAACTTAGGGTCTTCTGGTGGCGAGAAGGAAGAAGGCAAAAAGGTCCGGCGGCAGTGGGAGTCGTGGAGCACAGAGGACAAGAACACCTTCTTCGAGGGGCTGTACGAG___CATGGGAAAGACTTTGAAGCGATTCAGAACAACATTGCGCTGAAGTACAAGAAGAAAGGCAAGCCAGCAAGCATGGTGAAGAACAAGGAGCAGGTCCGCCACTTCTACTACCGCACCTGGCACAAGATCACCAAGTACATCGACTTTGATCATG___TGTTCTCTCGAGGCCTGAAGAAGTCATCCCAGGAACTGTATGGCCTGATC)TGCTATGGCGAGCTGCGCAAGAAGATTGGGGGCT___GTATGGATGACAAGAATGCAACAAAGCTGAATGAACTCATTCAGGTTGG|GATAGGTGGAGAAACACATGAAGCACAACTGCAGTGGGTTATAAAAAACGGCCTTTCGAGTTGAGCAATAAATTCGTTCAAGCAGCCATTCTGAAGGACAAACTGGCTCTGTATTTAAGAGGGGCATTCCAGCACTTCTCTAGCCACTGGGTTGACAATGACTCACCAAAGCCTCTGGTAGCCACCACAGGACACCCAGAGCATATGTTTTAAAGCTGAACACCAAACTGCGGACTTCGGG MTVKLGDGGSGEDGLKKLGKRAADEESLEGEGAGGADAAEESSGTKRDEKTPRAGADGPPAPPGAPQAPSPPQGSPQDQHHFLRSSVRPQSKRPRKDPPSAVGSGNAGGSGPRGKGAEGGGSSSGNVSGVAPAAPAGGSRSSSRNLGSSGGEKEEGKKVRRQWESWSTEDKNTFFEGLYEHGKDFEAIQNNIALKYKKKGKPASMVKNKEQVRHFYYRTWHKITKYIDFDHVFSRGLKKSSQELYGLICYGELRKKIGGCMDDKNATKLNELIQVg|iggetheaqlqwviknglss* 11BR019 ENSG00000182446.14 ENSG00000267790.1(63274),ENSG00000204283.4(85497) -/- ./+ chr17:81572017 chr17:77791833 CDS/splice-site intergenic inversion 0 3 0 130 4 medium out-of-frame . NPL4_family(100%),NPL4_family__putative_zinc_binding_region(100%),Nuclear_pore_localisation_protein_NPL4(100%)| . . ENSG00000182446.14 . ENST00000331134.11 . upstream upstream . ^(GTATTGAGCGAGGCACCGGGACGTCGGCGGCTGGCGGAGCCGGGCGGGCGAAGCTGGAGCGGCGGTGGCGGCGGCGTAGGGAGGCCGGGGCCGGGGCTGAGGCCGCGGCCGGGTCTGCGAGGCCCTTGGGGCGGCAGGCGGCGGCGGCCCGGGGCTCGAGCCCGGAGGCAGGAGCAGCCGCCATGGCCGAGAGCATC___ATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAG___GTTGCAAAGGAGTTTGGCTTCCAAAATAATGGCTTCTCGGTTTACATCAATAGAAACAAGACCGGAGAGATAACAGCCTCCTCCAACAAATCCCTCAACTTGCTAAAAATCAA___GCATGGCGATTTGTTGTTCCTGTTTCCCTCGAGCCTTGCTGGGCCCTCATCTGAAATGGAGACGTCAGTTCCACCGGGCTTCAAAGTCTTTGGCGCTCCCAACGTGGTGGAGGATGAGATTGATCAGTACCTCAGCAAACAGGACGGGAAGATTTACAGAAGCCGAGACCCACAGCT___ATGCCGCCACGGCCCTTTGGGGAAATGCGTGCACTGCGTCCCTCTAGAG___CCATTCGATGAGGACTATCTAAACCATCTCGAGCCTCCCGTGAAGCACATGTCCTTCCACGCCTACATCCGGAAGCTGACTGGAGGGGCTGACAA___GGGGAAGTTTGTTGCCCTGGAGAACATCAGCTGCAAGATTAAGTCAGGGTGCGAGGGGCACCTCCCGTGGCCGAATGGCATCTGTACTAAGTGCCAGCCGAGCGCCATCACGCTGAACAGACAG___AAGTACAGGCATGTGGACAATATCATGTTTGAGAATCACACCGTCGCTGACCGCTTTCTTGACTTCTGGAGAAAGACAGGGAACCAGCATTTTGGGTACTTATACGGACGGTACACGGAGCACAAAGACATTCCCCTTGGCATCAGGGCTGAAGTGGCTGCGATTTATGAGCCACCTCAG___ATTGGTACACAGAACAGCTTGGAGCTTCTTGAGGATCCAAAAGCTGAAGTGGTCGATGAAATTGCTGCCAAACTTGGCCTGCGGAAG___GTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAG___GACACCTATTTCCTAAGTTCAGAAGAGTGCATCACTGCAGGAGACTTCCAGAACAAGCATCCCAACATGTGCCGGCTCTCTCCAGACGGACATTTTGGATCCAAGTTTGTTACTGCAGTGGCTACAG___GTGGTCCTGACAACCAAGTCCACTTTGAAGGGTACCAGGTGTCCAATCAGTGTATGGCACTGGTCCGTGATGAGTGTTTGCTGCCATGCAAGGACGCCCCGGAGCTTGGCTACGCCAAGGAGTCTAGCAGTGAGCAGTACGTGCCTGATGTGTTTTATAAG___)GACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGAC|GAAGCTGGCTGTCCAACACTCACCAGCACGCCGTGGCCTGAAAGCTGCATTCAGTGTGTGGACTTCATCCTGGGTGAAGGGGATATGGCTTTCGCTAGGATTGAAAGCACAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCTGATCACCTGAGG MAESIIIRVQSPDGVKRITATKRETAATFLKKVAKEFGFQNNGFSVYINRNKTGEITASSNKSLNLLKIKHGDLLFLFPSSLAGPSSEMETSVPPGFKVFGAPNVVEDEIDQYLSKQDGKIYRSRDPQLCRHGPLGKCVHCVPLEPFDEDYLNHLEPPVKHMSFHAYIRKLTGGADKGKFVALENISCKIKSGCEGHLPWPNGICTKCQPSAITLNRQKYRHVDNIMFENHTVADRFLDFWRKTGNQHFGYLYGRYTEHKDIPLGIRAEVAAIYEPPQIGTQNSLELLEDPKAEVVDEIAAKLGLRKVGWIFTDLVSEDTRKGTVRYSRNKDTYFLSSEECITAGDFQNKHPNMCRLSPDGHFGSKFVTAVATGGPDNQVHFEGYQVSNQCMALVRDECLLPCKDAPELGYAKESSSEQYVPDVFYKDVDKFGNEITQLARPLPVEYLIID|eagcptltstpwpesciqcvdfilgegdmafariestgwvqwltpvilalweakag* 11BR019 ENSG00000214176.9 ENSG00000104885.18 -/- +/+ chr17:64821767 chr19:2180713 exon/splice-site CDS/splice-site translocation 0 3 0 64 20 medium . . |Histone_methylation_protein_DOT1_(100%) . . ENSG00000214176.9 ENSG00000104885.18 ENST00000578036.5 ENST00000398665.8 upstream upstream . ^(GGCCGAGAGACCGCATCGTCGGCTCGGAGGCTGAGGGGCTGCCGCAGCCGGGAGCCCCCCTCGCCTCGCTCCTCGCTCCGCTTG___GTGTCATGTGATTCTCTGAGGGAGCAGCTGCGTGAGTGGAGATGCTTTCAGTGGTGGAGAATGGACTGGACCCCCAGGCTGCCATCCCG___GTCATCAAGAAGAAGCTGGTGGGATCCGTGAAAGCCTTGCAAAAGCAGTACGTGTCCCTGGACATGGTGGTCACTAGTGAAGACGGAGATGCCAACACCATGTGCAGCGCCCTGGAGGCCGTATTTATCCATGGCCTGCACACCAAGCACATCCGAGCTGAGGCCGGAGGAAAAAGGAAGAAAAGTGCCCACCAGAAGCCTCTGCCCCAGCCTGTCTTCTGGCCCCTCCTGAAAGCTGTCACCCCCAA___ACACATCATCTCAGAGTTGGAGCACCTGACGTTTGTCAACATGGATGTGGGCCGCTGCCGGGCATGGCTGCGGCTGGCCCTGAACAATGGCCTGATGGAGTGCTACCTGAAGCTGCTGCTGCAGGAGCAGGCCCGCTTGC___AACTACAGCGGAAGGAATCTCTGGATTCCATTTCCCATTCTTCAGGCTCTGAAGACATCGAAGTCCATCACTCGGGCCATAAGATACGGAGGAACCAGAAGCCGACTGCCTCCTCCCTCAGCCTGGACACGGCCAGTTCATCCCAGCTGTCCTGCAGCCTAAACTCTGATAGCTGCTTACTCCAAGAGAATGGCTCCAAGAGTCCAGACCATTGCGA)GGAGCCCATGTCCTATGACTCAGACCTGGGCACAGCAAATGCTGAGGACTCAGACCAGTCTCTGCAAGA|GATAAACATCACGATGCTGCTCATGAAATCATCGAGACCATCCG___ATGGGTCTGTGAAGAAATCCCGGATCTCAAGCTCGCTATGGAGAATTACGTTTTAATTGACTATGACACCAAAAG___CTTCGAGAGCATGCAGAGGCTCTGCGACAAGTACAACCGTGC(CATCGACAGCATCCACCAGCTG___TGGAAGGGCACCACGCAGCCCATGAAGCTGAACACGCGGCCGTCCACTGGACTCCTGCGCCATATCCTGCAGCAGGTCTACAACCACTCGGTGACCGACCCCGAGAAGCTCAACAACTACGAGCCCTTCTCCCCCGAGGTGTACGGGGAGACCTCCTTCGACCTGGTGGCCCAGATGATTGATGAGATCAAGATGACCGACGACGACCTGTTTGTGGACTTGGGGAGCG___GTGTGGGCCAGGTCGTGCTCCAGGTTGCTGCTGCCACCAACTGCAAACATCACTATGGCGTCGAGAAAGCAGACATCCCGGCCAAGTATGCGGAG___ACCATGGACCGCGAGTTCAGGAAGTGGATGAAATGGTATGGAAAAAAGCATGCAGAATACACA___TTGGAGAGAGGCGATTTCCTCTCAGAAGAGTGGAGGGAGCGAATCGCCAACACGAG___TGTTATATTTGTGAATAATTTTGCCTTTGGTCCTGAGGTGGATCACCAGCTGAAGGAGCGGTTTGCAAACATGAAGGAAG___GTGGCAGAATCGTGTCCTCGAAACCCTTTGCACCTCTGAACTTCAGAATAAACAGTAGAAACTTGAGTG___ACATCGGCACCATCATGCGCGTGGTGGAGCTCTCGCCCCTGAAGGGCTCGGTGTCGTGGACGGGGAAGCCAGTCTCCTACTACCTGCACACTATCGACCGCACCATA___CTTGAAAACTATTTTTCTAGTCTGAAAAACCCAAAACTCAGG___GAGGAACAGGAGGCAGCCCGGCGCCGCCAGCAGCGCGAGAGCAAGAGCAACGCGGCCACGCCCACTAAGGGCCCAGAGGGCAAGGTGGCCGGCCCCGCCGACGCCCCCATG___GACTCTGGTGCTGAGGAAGAGAAGGCGGGAGCAGCCACCGTGAAGAAGCCGTCTCCCTCCAAAGCCCGCAAGAAGAAGCTAAACAAGAAGGGGAGGAAGATGGCTGGCCGCAAGCGCGGGCGCCCCAAGAAGATGAACACTGCGAACCCCGAGCGGAAGCCCAAGAAGAACCAAACTGCACTGGATGCCCTGCACGCTCAGACCGTGTCTCAGACGGCGGCCTCCTCACCCCAGG___ATGCCTACAGATCCCCTCACAGCCCGTTCTACCAGCTACCTCCGAGCGTGCAGCGGCACTCCCCCAACCCGCTGCTGGTGGCGCCCACCCCGCCCGCGCTGCAGAAGCTTCTAG___AGTCCTTCAAGATCCAGTACCTGCAGTTCCTGGCATACACAAAGACCCCCCAGTACAAGGCCAGCCTGCAGGAGCTGCTGGGCCAGGAGAAG___GAGAAGAACGCCCAGCTCCTGGGTGCGGCTCAGCAGCTCCTCAGCCACTGCCAGGCCCAGAAGGAGGAGATCAGGAGGCTGTTTCAGCAAAAATTGGATGAG___CTGGGTGTGAAGGCGCTGACCTACAACGACCTGATTCAAGCGCAGAAGGAGATCTCCGCCCATAACCAGCAGCTGCGGGAGCAGTCGGAGCAGCTGGAGCAGGACAACCGCGCGCTCCGCGGCCAGAGCTTGCAGCTG___CTCAAGGCTCGCTGCGAGGAGCTGCAGCTGGACTGGGCCACGCTGTCGCTGGAGAAGCTGTTGAAGGAGAAGCAGGCCCTGAAGAGCCAGATCTCGGAGAAGCAGAGGCACTGCCTGGAGCTGCAG___ATCAGCATTGTGGAGCTAGAGAAGAGCCAGCGGCAGCAGGAGCTCCTGCAGCTCAAGTCCTGTGTGCCGCCTGACGACGCCCTGTCCCTGCACCTGCGTGGGAAGGGCGCCCTGGGCCGCGAGCTGGAGCCTGACGCCAGCCGGCTGCACCTGGAGCTGGACTGCACCAAGTTCTCGCTGCCTCACTTGAGCAGCATGAGCCCGGAGCTCTCCATGAACGGCCAGGCTGCTGGCTATGAGCTCTGCGGTGTGCTGAGCCGGCCTTCGTCGAAGCAGAACACGCCCCAGTACCTGGCCTCACCCCTGGACCAGGAGGTGGTGCCCTGTACCCCTAGCCACGTCGGCCGGCCGCGCCTGGAGAAGCTGTCTGGCCTAGCCGCACCCGACTACACTAGGCTGTCCCCGGCCAAGATTGTGCTGAGGCGGCACCTGAGCCAGGACCACACGGTGCCCGGCAGGCCGGCTGCCAGTGAGCTGCATTCGAG___AGCTGAGCACACCAAGGAGAACGGCCTTCCCTACCAGAGCCCCAGCGTGCCTGGCAGCATGAAGCTGAGCCCTCAGGACCCGCGGCCCCTGTCCCCTGGGGCCTTGCAGCTTGCTGGAGAGAAGAGCAGTGAGAAG___GGCCTGAGAGAGCGCGCCTACGGCAGCAGCGGGGAGCTCATCACCAGCCTGCCCATCAGCATCCCGCTCAGCACCGTGCAGCCCAACAAGCTCCCGGTCAGCATTCCCCTGGCCAGCGTGGTGCTGCCCAGCCGCGCCGAGAGGGCG___AGGAGCACCCCCAGTCCCGTGCTGCAGCCCCGTGACCCCTCGTCCACACTTGAAAAGCAGATTGGTGCTAATGCCCACGGTGCTGGGAGCAGAAGCCTTGCCCTGGCCCCCGCAG___GCTTCTCCTACGCTGGCTCGGTGGCCATCAGCGGGGCCTTGGCGGGCAGCCCGGCCTCTCTCACACCTGGAGCCGAGCCGGCCACCTTGGATGAGTCCTCCAGCTCTGGGAGCCTTTTTGCCACCGTGGGGTCCCGCAGCTCCACGCCACAGCACCCCCTGCTGCTGGCACAGCCCCGGAACTCGCTTCCTGCCTCTCCCGCCCACCAGCTCTCCTCCAGTCCCCGGCTTGGTGGGGCCGCCCAGGGCCCGTTGCCCGAGGCCAGCAAGGGAGACCTGCCCTCCGATTCCGGCTTCTCAGATCCTGAGAGTGAAGCCAAGAGGAGGATTGTGTTCACCATCACCACTGGTGCGGGCAGTGCCAAGCAGTCGCCCTCCAGCAAGCACAGCCCCCTGACCGCCAGCGCCCGTGGGGACTGTGTGCCGAGCCACGGGCAGGACAGTCGCAGGCGCGGCCGGCGGAAGCGAGCATCTGCGGGGACGCCCAGCTTGAGCGCAGGCGTGTCCCCCAAGCGCCGAGCCCTGCCGTCCGTCGCTGGCCTTTTCACACAGCCTTCGGGGTCTCCCCTCAACCTCAACTCCATG___GTCAGTAACATCAACCAGCCCCTGGAGATTACAGCCATCTCGTCCCCGGAGACCTCCCTGAAGAGCTCCCCTGTGCCCTACCAGGACCACGACCAGCCCCCCGTGCTCAAGAAGGAGCGGCCTCTGAGCCAGACCAATGGGGCACACTACTCCCCACTCACCTCAGACGAGGAGCCAGGCTCTGAGGACGAGCCCAGCAGTGCTCG___AATTGAGAGAAAAATTGCAACAATCTCCTTAGAAAGCAAATCTCCCCCGAAAACCTTGGAAAATG___GTGGTGGCTTGGCGGGAAGGAAGCCCGCGCCCGCCGGCGAGCCAGTCAATAGCAGCAAGTGGAAGTCCACCTTCTCGCCCATCTCCGACATCGGCCTGGCCAAGTCGGCGGACAGCCCGCTGCAGGCCAGCTCCGCCCTCAGCCAGAACTCCCTGTTCACGTTCCGGCCCGCCCTGGAGGAGCCCTCTGCCGATGCCAAGCTGGCCGCTCACCCCAGGAAAGGCTTTCCCGGCTCCCTGTCGGGGGCTGACGGACTCAGCCCGGGCACCAACCCTGCCAACGGCTGCACCTTCGGCGGGGGCCTGGCCGCGGACCTGAGTTTACACAGCTTCAGTGATGGTGCTTCTCTTCCCCACAAGGGCCCCGAGGCGGCCGGCCTGAGCTCCCCGCTGAGCTTCCCCTCGCAGCGCGGCAAGGAGGGCTCGGACGCCAACCCTTTCCTGAGCAAGAGGCAGCTGGACGGCCTGGCTGGGCTGAAGGGCGAGGGCAGCCGCGGCAAGGAGGCAGGGGAGGGCGGCCTACCGCTGTGCGGGCCCACGGACAAGACCCCACTGCTGAGCGGCAAGGCCGCCAAGGCCCGGGACCGCGAGGTCGACCTCAAGAATGGCCACAACCTCTTCATCTCTGCGGCGGCCGTGCCTCCCGGAAGCCTCCTCAGCGGCCCCGGCCTGGCCCCGGCGGCGTCCTCCGCAGGCGGCGCGGCGTCCTCCGCCCAGACGCACCGGTCCTTCCTGGGCCCCTTCCCGCCGGGACCGCAGTTCGCGCTCGGCCCCATGTCCCTGCAGGCCAACCTCGGCTCCGTGGCCGGCTCCTCCGTGCTGCAGTCGCTGTTCAGCTCTGTGCCGGCCGCCGCAGGCCTGGTGCACGTGTCGTCCGCTGCCACCAGACTGACCAACTCGCACGCCATGGGCAGCTTTTCCGGGGTGGCAGGCGGCACAGTTGGAG___GTAACTAGGATTTCTACCTCAACCGCGAGACCTATGCAAGGACGGTGTGGACCAACTCGCGCCCGCGGCATGGTGCCCGCCGGCCTGCCGGGCTCCCACCCCTGGACGGCAGAGGCAAGGACGGACGGGAGCTCCACTGTGAATCGGCGGCACGCGCCGCAGGAGGCTGGGACTGGTCCAGTTTGTACTGTCGATAGTTTTAGATAAAGTATTTATCATTTTTTAAAAAGTATAAACAATTCTGACTTATTTTATTCCATCTAAGTGGTAAAAGGCAACTTATTGAGAAATATAAATATCTATATATGAGAGCTCTATATAAAGACACGTGTCTGCAGGGCGGGCCCGCCAGCGGATTCGCCACAGCCTGCCCCGGTGCTATCTCGTCCCCAGGCCCGCGCCTGCCTCCACCCGCTTGGTGCTGACTAGACGCTGACAACGCCGAACCCCGTTCTCGGAAACGCCGCCCGGCCGGCTCCCCCGACGCGCTGCTCCCGTACCAAAGGCAGGCCCGTCGCCACCACATTCCTCGGAGGCCTCCCCGCGGCCTGAGCCCCTTCCTGAGCGCCCTGGCGCCTGCCCTGAGCTCTTCACCTTTACCCCGGCACTGTGAACCCCCAGACTGTTCACCCTCCGGGGCGTGGGTTGCGCCCTTGCATGTGAAGGGGCCTGCGCGGTGACGCAGCTGGCCATGTGCTGCGCGATGGTGCTGTGAGGACGGCGCGGGCACGTTGAACAAGTGCATTTACTTTTGTATTTCTCGGCTGTCCATGGCTCGCAGCATGCCCTGCGATGCGGGGCAGGCCTGTCGTGGGTCCCTTGGTGTTTCTGTACAGGAGAGAGTCACACTAATGAGTGGCAGTATTTTATAGAGATGTGATGAGAATTTATAAATTTCATAGATTTGACAGCTTTTATTTTTAGATGGTATAATGCACAGTGAAGAGGAAAGAAAAGCGAGGGGAAAAAACCTTATTTATTCAAACAGTGCACAAAATGGCCCCAGCGTCAGCCCCGACCCTAGACCCCTCAGTTGCAGCTCCCAGCAGCCCAGACAGAGCTGCCGGCGCCCCTGCCTGCCCCACATCCCTTCCTGTCAGGGCCACGCCTGGCACCCATCCCTTGGAGCCTGTGCTGGTTCTCCCAGCTGCTGTGGGTGTGCTGGGGCCAGGGTGCACTGCTGAAACCTGGCCTCTCTGGCCCTAGGCCCCAGGGTGACGTCGGCCCCCCACTCTGCAGCCTTGGCGGGTGCCTGGGACTGGGTGTGGAAGGAGAGGAGCTGAGGCCGGGGTGTAGCAGGCAGGCAGGGCCACTCCAGTGCTTCTGGAGCCCTGAGCAGTCAGGGCCTGGGTTGTCTGAGCAGTGGTGGCTCTGTGCCCTCCCTGGAGGATGGGATCTGGGAGTCTGAGCTCCCCGCATCTGGCCCTGGGCTGTGTGGCACTTGCTGAGCCCACCTTCTCAAGTGCTTGCTCCTGTGAGATGGCATCGGGGAGCCCCTTCCCCAAGGTGCCACAGATCCACCCTCCAGGGAGCTGCCAGCCCTGTGTTCTGGTTCCCAAGGGCAGGATGGACACACGTCACATCCCTACCACGTGGCCTCCAAAGGGAGCCACGGAGGAAAGGCTTCTGTGGTTGCTAGGTGGGGGAGTCCTGTGTGGGAGGGCCTGAAGACCCCTGCTTGTGCCTGGTGAGGGGGGTGCTGCCTCCCCCAGCCCCCAACAACCTCTCAGACCCCCACCCTCCAACATAGCTGAGTTCTGAAGATGGTGCTCCGGACCTGTCCTCTTAAGTGGTGCCCAGTGCCCTCCCCACCCCACGTTGGTGCTCTCAGCTAGAAGGTGCTGTGCCTCTGCCTGAGCCCCAAGCCCCGAGCCTGGCCTTCAGGACAGGCAGCCTGCTCTGTGTCGCCACGGGCCGGATACGCCACAGGGTTGATGGCAGAGACGGCCGAGTCCCTGGTCTAGAACAAGACACATTCTTTAAACACTGTATTACTTCTGCCTCCCTCTAGGTGACAGTGGCAGTCCGGGTGCCATCACGGGTCCTGCAGATGGCCATGCAGGGCTCCTGCCCACGCAGGCCACCGTATGTTCAGGACACGCACTGGGTCTCAGAGCCACTGGCCCAGGCAGAAGTCTCCTTGAGCCCACTGGGTCATATGCGTGTCACCACACGTGAACTAGTGTGGTGGCTGCCTGCGGACACCCTCCTGTTCTGAGCCCTGGGCCTGTGTTCTTCTCAGACACTCCCAGACTGAGGGGTGGTGTGTGGCGGGTGGCAGGGTGGCTGTGGAGACTGGGGATCTGGAGCCTGGTGCTGGCACCTGGCCTGAGTTTCCGTGGGCAGCTGGCGGGGACCTGTGCTGCTGCTGCTGACTGTGGGTGGGCGGGCGGCGCCTGGGAGTGGCTCTTGCTCAGGAATTGATAGGAACCCTAAAAACTAGGATACCCCCTCCTCGGCCCATGAGGCACGCACAGTGACTTATTTAAGACTTCCCCCTTAATTTATCTGCCCCCAGGATGCGTCAGTCTGTTCAGTGGTCAGCAGGCCCCCCACCCCCCGCCGACTGCCCTCGCCATCGTGGTCAGACCCCCCTCCCAACACAACACGCTGCTGGTCTGTGTCAGCCTTTGTAACGTGGGAGGCTCTGCCGTGTCTTCCGGGTGAACTGTATTTGGATTGCGCGCATTGTCACGGTCCGCCCCTGGGCTGCAGGCGCCCCTTCCTCTGGGCACCCCTGCATTCTGCATCCCCACCTCTAGACGCTGTAATAAACAGACTGTTTTCACTCGGA)$ . 11BR019 ENSG00000261732.1 ENSG00000260923.7 +/+ +/- chr16:1641187 chr16:90210357 CDS/splice-site intron inversion/3'-3' 0 3 0 33 11 medium . . . . . ENSG00000261732.1 ENSG00000260923.7 ENST00000454337.1 . downstream downstream . ^(CAAGAAGAAAGGCAAGCCAGCAAGCATGGTGAAGAACAAGGAGCAGGTCCGCCACTTCTACTACCGCACCTGGCACAAGATCACCAAGTACATCGACTTTGATCATG___TGTTCTCTCGAGGCCTGAAGAAGTCATCCCAGGAACTGTATGGCCTGATC)TGCTATGGCGAGCTGCGCAAGAAGATTGGGGGCT___GTATGGATGACAAGAATGCAACAAAGCTGAATGAACTCATTCAGGTTGG|GATAGGTGGAGAAACACATGAAGCACAACTGCAGTGGGTTATAAAAAACGGCCTTTCGAGTTGAGCAATAAATTCGTTCAAGCAGCCATTCTGAAGGACAAACTGGCTCTGTATTTAAGAGGGGCATTCCAGCACTTCTCTAGCCACTGGGTTGACAATGACTCACCAAAGCCTCTGGTAGCCACCACAGGACACCCAGAGCATATGTTTTAAAGCTGAACACCAAACTGCGGACTTCGGG . 11BR019 ENSG00000180229.12 ENSG00000137767.14 -/- +/+ chr15:20435849 chr15:45658907 exon/splice-site 5'UTR/splice-site inversion 3 0 0 87 59 medium . . . . . ENSG00000180229.12 ENSG00000137767.14 ENST00000430598.5 ENST00000568606.5 upstream upstream . ^(GGCTGAGCCAGCGGCTCTTGGGAGGCTGCGTCCGCGCGCCGGCGGGGCGGGGCGGCCGGGCCCTGCGCGTCAG___GCCTGAGACCTGGGAGGAAGCTGGAGAAAAGATGCCCTCTGAATCTTTGTGTTTGGCTGCCCAGGCTCGCCTCGACTCCAAATGGTTGAAAACAGATATACAG___CTTTTGTCTGGTCCTCTGAGCCCCAGTGAGAGTTTCCTGAGGTACCTCACCCTTCCACAAGACAACAGGCTTGCCATTGATCTGCAACAAACGGCGGTTGTTGTCATGGCCCATTTAGACCGTCTGGCTACACCCTGTAGATGCCTCCTCTGTGTAGCTCTCCGACGTCTCATAAG___AGTCATTTTTTACAGGTCAGAACTGTAGAAATAATGAGAAAGTGACACTTGTACGCATAGCTGATTTGGAGAACCATAATAACGATGGAGGCTTCTGGACTGTGATTGACGGGAAAGTGTATGATATAAAGGACTTCCAGACACAGTCGTTAACAGAAAATAGTATTCTTG___CTCAGTTTGCAGGGGAAGACCCAGTGGTAGCTTTGGAAGCTGCTTTGCAGTTTGAAGACACCCGGGAATCCATGCACGCATTTTGTGTTGGCCAGTATTTGGAG___CCTGACCAAGAAGGCGTCACCATACCAGATCTGGGGAGTCTCTCCTCACCTCTGATAGACACAGAGAGGAATCTGGGCCTGCTTCTCGGATTACACGCTTCCTATTTAGCAATGAGCACACCGCTGTCTCCTGTCGAGATTGAATGTGCCA___AATGGCTTCAGTCATCCATCTTCTCTGGAGGCCTGCAGACCAGCCAGATCCACTACAGCTACAACGAGGAGAAAGACGAGGACCACTGCAGCTCCCCAGGGGGCACACCTGCCAGCAAATCTCGACTCTGCTCCCACAGACGGGCCCTGGGGGACCATTCCCAGGCATTTCTGCAAGCCATTGCAGACAACAACATTCAGGATCACAACGTGAAG___GACTTTTTGTGTCAAATAGAAAGGTACTGTAGGCAGTGCCATTTGACCACACCGATCATGTTTCCCCCCGAGCATCCCGTGGAAGAGGTCGGTCGCTTGCTGTTATGTTGCCTCTTAAAACATGAAGATTTAG___GTCATGTGGCATTATCTTTAGTTCATGCAGGTGCACTTGGTATTGAGCAAGTAAAGCACAGAACGTTGCCTAAGTCAGTGGTGGATGTTTGTAGAGTTGTCTACCAAGCAAAATGTTCGCTCATTAAG___ACTCATCAAGAACAGGGCCGTTCTTACAAGGAGGTCTGCGCTCCTGTCATCGAACGTTTGAGATTCCTCTTTAATGAATTGAGACCTGCTGTTTGTAATGACCTCTCTATAATGTCTAAGTTTAAATTGTTAAGTTCTTTGCCCCATTGGAGGAGGATAGCTCAGAAGATAATTCGAGAACCAAGGAAAAAGAGAG___TTCCTAAGAAGCCAGAATCTACGGATGATGAAGAAAAAATTGGAAACGAAGAGAGTGATTTAGAAGAAGCTTGCATTTTGCCTCATAGTCCAATAAATGTGGACAAGAGACCCATTGCAATTAAATCACCCAAG___GACAAATGGCAGCCGCTGTTGAGTACTGTTACAGGTGTTCACAAATACAAGTGGTTGAAGCAGAATGTGCAGGGTCTTTATCCGCAGTCTCCACTCCTCAGTACAATTGCTGAATTTGCCCTTAAAGAAGAGCCAGTGGATGTGGAAAAGAGAAAGTGCCTACTAAAACAG___TTGGAGAGAGCAGAGGTTCGCCTGGAAGGGATAGATACAATTTTAAAATTGTATCTGGTGAGCAAGAATTTCTTACTTCCATCTGTGCCGTATGCGATGTTTTGTGGATGGCAAAGACTTATTCCTGAGGGAATCGATATAGG___GGAACCTCTTACTGATTGTTTAAAGGATGTTGATTTGATCCCGCCTTTTAATCGGATGCTGCTGGAAGTCACCTTTGGCAAGCTGTACGCTTGGGCTGTTCAGAACATTCGAAATGTTTTGGTGGATGCCAGTGCCAAATTTAAAGAGCTTG___GTATCCAGCCGGTTCCCCTGCAAACCATCACCAATGAGAACCCATCGGGACCGAGCTTGGGGACCATCCCGCAAGCCCACTTCCTCCTGGTGATGCTCAGCATGCTCACCCTGCAGCACAGCGCAAACAACCTTGACCTCCTGCTCAATTCCGGCACGCTGGCCCTCGCTCAGACGGCACTGCGCCTGATTG___GCCCCAGTTGTGACAGCGTTGAGGAAGATATGAATGCTTCTGCTCAAGGTGCTTCTGCCACAGTTTTGGAAGAAACAAGGAAGGAAACGGCTCCTGTGCAGCTCCCTGTTTCAGGGCCAGAACTGGCTGCCATGATGAAGATTGGAACAAGGGTCATGAGAGGTGTGGACTGGAAATGGGGCGATCAG___GATAGGCCTCCTCCAGGCCTAGGCCGAGTGATTGGTGAGCTGGGAGAGGACGGGTGGATAAGAGTCCAGTGGGACACAGGCAGCACCAACTCCTACAGGATGGGGAAAGAAGGAAATTACGACCTCAAGCTGGCAGAGCTGCCAGCCCCTGCACAGCCCTCAGCAGAGGATTCGGACACAGAGGACGACTCTG___AAGCCGAACAAACTGAAAGGAACATTCACCCCACTGCAATGATGTTTACCAGCACTATTAACTTACTGCAGACTCTTTGTCTGTCTGCTGGAGTTCATGCTGAGATCATGCAGAGTGAAGCCACCAAGACTTTATGCGGACTGCTGCAAAT___GCTGGTGTACAGGGAGCAACACCGGAGCTGGTGCACGCTGGGGTTTGTGCAGAGCATCGCTCTCACGCTGCAGGTGTGCGGCACCCTCAGCTCCCTGCAGTGGATCACGCTGCTCATGAAGGTCGTGGAAGGGCACGCACCCTTCACTGCCACCTCGCTGCAGAGGCAG___ATCTTAGCTGTGCATTTGTTGCAAGCAGTCCTTCCGTCATGGGACAAGACCGAAAGGGCGAGGGACATGAAATGCCTCATGGAGAAGCTGTTTGACTTCTTGGGGAGCTTGCTCACTATGTGCTCCTCTGACGTGCCGTTACTCAGAG___AGTCCACGCTGAGGCGGCGCAGGGTGTGCCCGCAGGCCTCGCTGACTGCCACCCACAGCAGCACACTGGCGGAGGAGGTGGTGGCACTGCTGCACACGCTGCACTCCCTGACTCAGTGGAATGGGCTCATCAACAAGTACATCAACTCCCAGCTCCGCTCCATCACCCACAGCTTTGCGGGAAGGCCTTCCAAAGGG___GCCCAGTTAGAGGACTACTTCCCTGATTCCGAGAACCCTGAAGTGGGGGGCCTCATGGCGGTCCTGGCTGTGGTTGGAGGCATCGATGGTCGCCTGTGCCTGGGCGGCCAAGTTGTGCACGATGACTTTGGAGAAGTCACCATGACTCGCATCACCCTGAAGGGCAAAATCACCGTGCAGTTCTCTGACATGCGGACGTGTCACGTTTGCCCATTGAATCAGCTGAAACCA___CTCCCTGCCGTGGCCTTTAATGTGAACAACCTGCCCTTCACAGAGCCCATGCTGTCTGTCT)GGGCTCAGTTGGTGAACCTCGCTGGAAGCAAGTTAGAAAAGCACAAAATAAAGAAATCGACTAAACAGGCCTTTGCAG___GACAAGTGGACCTGGACCTGCTGCGGTGCCAGCAGTTGAAGCTATACATCCTGAAAGCAGGTCGGGCGCTGTTCTCCCACCAGGATAAACTGCGGCAGATCCTGTCTCAGCCAGCTGTTCAGGAGACTGGAACTGTTCACACAG|CCTGATCCTGCCTGAAGATGGTGCCACTGGTGGCTGTGGTATCAGGGCCCCGTGCCCAGCTCTTTGCCTGCCT(GCTCAGGCTGGGCACTCAGCAGGTCGGCCCCCTTCAGCTGCACACCGGGGCCAGCCATGCGGCCAGGAACCATTATGAGGTGCTGGTGCTGGGTGGGGGCAGTGGCGGAATCACCATGGCTGCCCGCATGAAGAGGAAAGTGGGTGCAGAGAATGTGGCCATTGTTGAGCCCAGTGAG___AGACATTTCTACCAGCCAATCTGGACACTGGTGGGTGCTGGTGCCAAACAATTGTCCTCATCTGGTCGTCCCACGGCAAGTGTGATTCCATCTGGTGTAGAATGGATCAAAGCTAGAGTGACTGAGTTGAACCCAGACAAGAACTGCATTCACACAGATGACGACGAGAAG___ATCTCCTACCGATATCTTATTATTGCTCTCGGAATCCAGCTGGACTATGAGAAG___ATTAAAGGCCTACCTGAAGGTTTCGCTCATCCCAAAATAGGGTCGAATTATTCAGTTAAGACTGTAGAGAAGACATGGAAAGCTCTGCAGGACTTCAAAGAGGGCAATGCCATCTTCACCTTCCCAAATACTCCAGTGAAGTGTGCTGGAGCCCCTCAGAAGATCATGTACTTATCAGAAGCCTACTTCAGGAAG___ACAGGGAAGCGATCCAAGGCCAATATCATTTTCAACACTTCTCTTGGAGCCATTTTCGGGGTTAAGAAGTATGCAGATGCCCTGCAGGAGATCATCCAGGAGCGGAACCTCACTGTTAACTACAAGAAAAACCTCATTGAAGTCCGAGCCGATAAACAAGAGGCTGTATTTGAGAACCTGGACAAACCAGGAGAGACCCAAGTGATTTCA___TATGAAATGCTTCATGTCACACCTCCAATGAGCCCACCAGATGTCCTCAAGACCAGTCCTGTGGCTGATGCTGCTGGTTGGGTGGATGTGGATAAAGAAACTCTGCAACACAGGAGGTACCCAAATGTGTTTGGGATTGGGGACTGCACCAACCTTCCTACGTCAAAGACCGCTGCTGCAGTAG___CTGCCCAGTCAGGAATACTTGATAGGACAATTTCTGTAATTATGAAGAATCAAACACCAACAAAGAAG___TATGATGGCTACACATCATGTCCACTGGTGACCGGCTACAACCGTGTGATTCTTGCTGAGTTTGACTACAAAGCAGAGCCGCTAGAAACCTTCCCCTTTGATCAAAGCAAAGAGCGCCTTTCCATGTATCTCATGAAAGCTGACCTGATGCCTTTCCTGTATTGGAATATGATGCTAAG___GGGTTACTGGGGAGGACCAGCGTTTCTGCGCAAGTTGTTTCATCTAGGTATGAGTTAAGGATGGCTCAGCACTTGCTCATCTTGGATGGCTTCTGGGCCAAAACTGCAGTCACTGAATGACCAAGAGCAGCACGAAGGACTTGGAACCTATCCTTGTAAAGAGTTCCTTGATGGGTAATGGTGACCAAATGCCTCCCTTTTCAGTACCTTTGAACAGCAACCATGTGGGCTACTCATGATGGGCTTGATTCTTTGGGAATAATAAAATGAAATAATACTTTTATTTTCTGAATAAAAGTTTGTCACTG)$ . 11BR019 ENSG00000169752.17 ENSG00000259284.2(78695),ENSG00000259564.2(24599) -/- ./+ chr15:76009200 chr15:61810083 CDS/splice-site intergenic inversion 2 0 0 4 3 medium out-of-frame . EGF-like_domain(100%)| . . ENSG00000169752.17 . ENST00000394907.8 . upstream upstream . ^(AGATTTTTGACATGTTATAAAATGCAAGTCACAGCTGCTGTTGTCTGCGGTATTCAAAAACTTTTGAAACACTGCATGTCCAACAAAATTTATTTTTTGTGTGAAT___GTACTGTTTTTCAACCCTACTCTCTTGACCAAGAATGAAACTATTTACAA)ATTAAGATGCCAACAG___ATCACGAAGAGCCCTGTGGTCCCAGTCACAAGTCGTTTTGCCTGAATGGGGGGCTTTGTTATGTGATACCTACTATTCCCAGCCCATTTTGTAG|AAAAGGGCATCATGGAGAGAATAAATATTGAAAATGGAAAGAAAAAGGCATGCGGGGAAGAAGGTGTTTGTCCTTGTTGGGGA MPTDHEEPCGPSHKSFCLNGGLCYVIPTIPSPFCr|kghhgenky* 11BR019 ENSG00000142046.15 ENSG00000287318.1(90544),ENSG00000198680.4(1573) +/+ ./+ chr19:41364095 chr9:25674816 5'UTR/splice-site intergenic translocation 0 2 0 26 17 medium . . . . . ENSG00000142046.15 . ENST00000413014.6 . downstream upstream . ^(GGCTCGCGCCTCTC)CCAGGACCCGCCTGGCTGCGAGATAT|GTACACATCCAGATGGCCAGTTCCTGCCTTAACTGATGACATTCCACCACAAAACAAGTGAAAATGGCCTGTTCCTGCCTTAACTGATGACATTCCAC . 11BR019 ENSG00000266066.1(13068),ENSG00000266365.1(77763) ENSG00000153822.13 ./- +/+ chr17:62153707 chr17:70100658 intergenic 5'UTR/splice-site inversion 2 0 0 6 10 medium . . |Inward_rectifier_potassium_channel(100%) . . . ENSG00000153822.13 . ENST00000283936.5 upstream upstream . AACAGCTTGGCCAACgTGGTGAAACCCCATGTCTgCTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTgATCCCAGCTACTCGAGAGAATGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCACTGAGCCCAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCGGGAAGAAAAAAAAAA-TTGAAAATTAAGAAGAGTGAGAAAGAGG|AATGGGGGATTGAGGCACAGAGTGTTAAAATAGTGAGACACAGGATTCTAACTGGCAGACTG(GCACTTTATCTCAATTCTTAACTGCTGTGTTGCCTCTCACTTTAAAG___ACATCCACATTCCACCCTGGGCCTTGCCCGTCTGGTGAGCCCAATCTCTGCTGGTCAGTCACGCAGTTGAGGTCAGGGAAG___GAGTAACTCAAGATGATTTTGATGTTGCAGTTTTAAATTTCACTTTGACTTGAGCTGGGAAATCCTTTGGCCTATTATACCATGGATGCTAAAAATG___GTTCTAACTGAAAACCCAAACCAAGAAATAGCAACAAGTCTAGAATTCTTACTACTACAAAACTCACCTGGATCCCTAAGGGCACAGCAAAGAATGAGCTATTACGGCAGCAGCTATCATATTATCAATGCGGACGCAAAATACCCAGGCTACCCGCCAGAGCACATTATAGCTGAGAAGAGAAGAGCAAGAAGACGATTACTTCACAAAGATGGCAGCTGTAATGTCTACTTCAAGCACATTTTTGGAGAATGGGGAAGCTATGTGGTTGACATCTTCACCACTCTTGTGGACACCAAGTGGCGCCATATGTTTGTGATATTTTCTTTATCTTATATTCTCTCGTGGTTGATATTTGGCTCTGTCTTTTGGCTCATAGCCTTTCATCATGGCGATCTATTAAATGATCCAGACATCACACCTTGTGTTGACAACGTCCATTCTTTCACAGGGGCCTTTTTGTTCTCCCTAGAGACCCAAACCACCATAGGATATGGTTATCGCTGTGTTACTGAAGAATGTTCTGTGGCCGTGCTCATGGTGATCCTCCAGTCCATCTTAAGTTGCATCATAAATACCTTTATCATTGGAGCTGCCTTGGCCAAAATGGCAACTGCTCGAAAGAGAGCCCAAACCATTCGTTTCAGCTACTTTGCACTTATAGGTATGAGAGATGGGAAGCTTTGCCTCATGTGGCGCATTGGTGATTTTCGGCCAAACCACGTGGTAGAAGGAACAGTTAGAGCCCAACTTCTCCGCTATACAGAAGACAGTGAAGGGAGGATGACGATGGCATTTAAAGACCTCAAATTAGTCAACGACCAAATCATCCTGGTCACCCCGGTAACTATTGTCCATGAAATTGACCATGAGAGCCCTCTGTATGCCCTTGACCGCAAAGCAGTAGCCAAAGATAACTTTGAGATTTTGGTGACATTTATCTATACTGGTGATTCCACTGGAACATCTCACCAATCTAGAAGCTCCTATGTTCCCCGAGAAATTCTCTGGGGCCATAGGTTTAATGATGTCTTGGAAGTTAAGAGGAAGTATTACAAAGTGAACTGCTTACAGTTTGAAGGAAGTGTGGAAGTATATGCCCCCTTTTGCAGTGCCAAGCAATTGGACTGGAAAGACCAGCAGCTCCACATAGAAAAAGCACCACCAGTTCGAGAATCCTGCACGTCGGACACCAAGGCGAGACGAAGGTCATTTAGTGCAGTTGCCATTGTCAGCAGCTGTGAAAACCCTGAGGAGACCACCACTTCCGCCACACATGAATATAGGGAAACACCTTATCAGAAAGCTCTCCTGACTTTAAACAGAATCTCTGTAGAATCCCAAATGTAGTCCTAAATTGCAATTATGAGGGCTACCACTGAATCATTTTATCTTTCAGCCAATCAAGTCGTTGTAAACGTGGCTTTTTTGAAAGTGTTATGGCTATGTTTTATGATGATGCTGGGTAAGTAGAGTAAGTTAAACTTGGTAAAAGATAATCTAAAAATTCCATAGTTCTCAGTTATTAAAATTTTTCTTGTTCGCCAATTTTGTATTAAGAATGCTATTAAGCCTAATTGATTAAAATTTATCTTTTTTATTATCTTACATGCTTGTATCTTCAGTTGGAGGTGTAGTATTCAAAAACGGGGAATGAAGGCAGGAAGGAGGCTGGAATAAATAAAAATAAAAATAGACAAGTAAGACAGCATAAATAATACATTTTTAAACATGTCAACATTGATAATACAATGAAGATTTACCATAAAAAGTATCATATCTAACCAAGATATGCAAAAGATGCATTCAGTAAGCTGTAACGTTGAGAAATGTAACTGTGAAATCAGCTCACCAGTTCAAGTCACTAGGTTTGCCACTTGGACCGTCTTGGTTTCAGCGAGCATAGCGAGTGGCTGTAAGAAATTGTCCATGCCACCAATTCCACTGCTACTTGCCCAGGTAGTGATCAGTGAGAGTTAGAAGCAATTTTTTCTCTAACCGATGAGGCAGAAGAAAAGTTAACAGTATTTAAAGCAGCATTTCTCTCTTAACGTTCCTGGGAGACTCCAACAAATGGAGACCAGAAACAAGGCAACCACGACCTTGCTAGGTTCTCTGAGGAGGGGACTTTCTATGTTCACGTCCCACCTTCTTCGAGGACATGACCAAGGGACAGGATCATACAGATGAGGTGAGGGGATGGTTAGCAGCGATAAACATTCTCAGACCCTTGGAGAGAAACCGTTGCTAGCTTGCTGGTCCCGAAAGATTGCAACTTTGGCTGCTACAGAAAGGATAGAACCTTTTTGGGGGGAGGGTGGGGAGGGAGATATTTATTTGTGCCCAGAAGCAGTTATGTATGCTTCTTGTCTTGGTTACTGTACAAGATACAAATGACTCGAGTTGTGGATTGCAAGAAACTCTTTTATTAAACTTGGAACAACCATTTAAATGAAGGATTTTGTGAGATAGAATTCAATTAAAGCGATTTGAATGCACAGTAAGTGGATAATCTGAGTACAATGAAATTTCTTAAGTTTTAGAACATGAGATAAAGTTGTATACTCTACTTTCATGTTAAAATGTTAATCATGATTACTTTAAGCCCACATCCACTGAGTAAAGAGTCACTTTAAACTTTATAAATCAAAGAGATATTAGGAACATTCAGAATTATTTGTGTTTTGTTTTTGTTTTACATTGTTGCTGCACTGGCAATAAGTATGTGGCACTGTTTTTATTTGTTTATGTTATTTAAATACACACCCAGACACACACACACACAGTTTTTGCTTTTTCTGGAAAATCTTTCTTTCTCTTCTCTCTCCATGAAAATTAAAACACACAAGTGAATGAAGTAATTACATAGTCCAAGATTAGAAATACAAGTAAAATATATAGGTATAGGTAGATAGAGTGCCTTTCTGTTTCTTTTCTTTTCTTTTTTCTTTTTTTGTTCTTCCTTCCTTTCTTCCCTCCTCCCCCTCATCCTTCCCTTTCTCCTTCTTTTCCCTTTTTTTTTTTTTTTTGACCTGGGAGTAATAAAGTTACTTTTTAAATGCACGTATGCAATCTTTTATTCCTCTTGTTTTATGGATAAGAGATTTGTTCAGGTCAAAAGTTGCAAAACTGTTCTGAAGCTTAATATTAGAGACCCAAGTAAGATTGTTTTTAGTCTTGCTTGAGGAATGCACACTCCATTTAAAAAATTGTGCGCTCTGTAGATTTGGATTTTACAGCAGCAATTACTTGGCTAAATTAGAGTACTGCAATCTTGTAAGTAGAAAACAGCCACCATGACAATAAACAAAAACACTTAAAAATATTTTTAGCTTGTTTTACCTACATCTAGTTTCATTTCATCTTGCTTTGCTTTGTTGACTCTGCTACCGCTGATGTTTGCCTTGTCAATATCAGAATAGGGGCATCAGTGTCCCGTGAAATACATTTTGTTGTGCTATGAGCCTCTGTAATCAAATGCTTGTACTCAGAAGAGAGTGTAAAATCAGCATTTCTATGTAACATATATCTCTAATTATCTGTGTAATTTTATAACATACTTTGACAACCCCAGTGAGTTACTTAATAATAAAGATCTTAAAATAATGC)$ . 11BR019 ENSG00000137764.20 ENSG00000069966.18 +/+ -/- chr15:67727945 chr15:52154076 CDS/splice-site CDS/splice-site inversion 1 1 0 47 11 medium out-of-frame . PB1_domain(100%),Protein_kinase_domain(100%)|WD_domain__G-beta_repeat(100%) . . ENSG00000137764.20 ENSG00000069966.18 ENST00000178640.10 ENST00000261837.11 downstream downstream . ^(GCCTTCCTCCTCCTCCTCTCGCCGCTACCGCCGTCGCCGCCGCCGCAGCCGCCGCCAGTCCGCGCGGCCTCGGGTGGCCGGAGCTCAGCCTGCGCGCGCCGCGCCCTGTGTCTCCGGGTGGGGCAGAAGACTCGCCCCTTGAACCTCCCGCGGGGACTCTCCGTGGTGTGGCGGCCCTGGGGCTCTTTCTTAATAGCCCCGGACTGAGTCCCCTCCAGTCGAGGACCCTCTCCTAGTCCACTGACGAGCGGTGGACACCTGCCGCTGTATCTCCCCCAAACCGAGTCCTTGCCCTGCTGCCTCCTCATACCCACACGGCGGCAGAGACCTTCACCATAGCGTTCGCTCAACTCCAGAACCTTCCGACCTCCGCTAGTTCCTGCGGGCCTTTGCCCGCTTCCCGGTGCACCCTCCCCGGGAGACACCTCAGACCCCCGACAGCCTGGGCAGGCTCGGTGCCTGCGGGTGCGTTCCTGATCACCCCTCCCCTCTTCCCTCCCCCTCATCCTCCATTCCCTTGTTTTCACCCTCTGTCCTCTGCCCGTCACTCCCCTTGTCACCTCTTGGAGCCCCCTCCTAACCAGCGGCCAGTGGGTTTCCCATACCCCAGGATGTGAGCCTCTTTAACCTGTAATGCTGTGGCTAGCCCTTGGCCCCTTTCCTGCCATGGAGAACCAGGTGCTGGTAATTCGCATCAAGATCCCAAATAGTGGCGCGGTGGACTGGACAGTGCACTCCGGGCCGCAGTTACTCTTCAGGGATGTGCTG___GATGTGATAGGCCAGGTTCTGCCTGAAGCAACAACTACAGCATTTGAAT___ATGAAGATGAAGATGGTGATCGAATTACAGTGAGAAGTGATGAGGAAATGAAGGCAATGCTGTCATAT___TATTATTCCACAGTAATGGAACAGCAAGTAAATGGACAGTTAATAGAGCCTCTGCAGATATTTCCAAGAG___CCTGCAAGCCTCCTGGGGAACGGAACATACATGGCCTGAAG___GTGAATACTCGGGCCGGACCCTCTCAACACAGCAGCCCAGCAGTCTCAGATTCACTTCCAAGCAATAG___CTTAAAGAAGTCTTCTGCTGAACTGAAAAAAATACTAGCCAATGGCCAG___ATGAATGAACAAGACATACGATATCGGGACACTCTTGGTCATGGCAACGGAGGCACAGTCTACAA___AGCATATCATGTCCCGAGTGGGAAAATATTAGCTGTAAAG___GTCATACTACTAGATATTACACTGGAACTTCAGAAGCAAATTATGTCTGAATTGGAAATTCTTTATAAG___TGCGATTCATCATATATCATTGGATTTTATGGAGCATTTTTTGTAGAAAACAGGATTTCAATATGTACAGAATTCATGGATG___GGGGATCTTTGGATGTATATAGGAAAATGCCAGAACATGTCCTTGGAAGAATTGCAGTAGCA___GTTGTTAAAGGCCTTACTTATTTGTGGAGTTTAAAGATTTTACATAGAG___ACGTGAAGCCCTCCAATATGCTAGTAAACACAAGAGGACAGGTTAAGCTGTGTGATTTTGGAGTTAGCACTCAG___CTGGTGAATTCTATAGCCAAGACGTATGTTGGAACAAATGCTTATATGGCG___CCTGAAAGGATTTCAGGGGAGCAGTATGGA)ATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAG___CTTGCTCTTGGGAGGTTTCCATATCCTCAG|TGCACCAGGTGGCGGAGCGGGTGGAGGCCCTGGGGCAGTTTGTCATGAAGACCAGAAGGACCC(TCAAAGGCCACGGGAACAAAGTCCTGTGCATGGACTGGTGCAAAGATAAGAGGAGGATCGTGAGCTCGTCACAG___GATGGGAAGGTGATCGTGTGGGATTCCTTCACCACAAACAAG___GAGCACGCGGTCACCATGCCCTGCACGTGGGTGATGGCATGTGCTTATGCCCCATCGGGATGTGCCATTGCTTGTGG___TGGTTTGGATAATAAGTGTTCTGTGTACCCCTTGACGTTTGACAAAAATGAAAACATGGCTGCCAAAAAGAAGTCTGTTGCTATGCACACCAACTACCTGTCGGCCTGCAGCTTCACCAACTCTGACATGCAG___ATCCTGACAGCGAGCGGCGATGGCACATGTGCCCTGTGGGACGTGGAGAGCGGGCAGCTGCTGCAGAGCTTCCACGGACATGGGGCTGACGTCCTCTGCTTGGACCTGGCCCCCTCAGAAACTGGAAACACCTTCGTGTCTGGG___GGATGTGACAAGAAAGCCATGGTGTGGGACATGCGCTCCGGCCAGTGCGTGCAGGCCTTTGAAACACATGAATCTGACATCAACAGTGTCCG___GTACTACCCCAGTGGAGATGCCTTTGCTTCAGGGTCAGATGACGCTACG___TGTCGCCTCTATGACCTGCGGGCAGATAGGGAGGTTGCCATCTATTCCAAAGAAAGCATCATATTTGGAGCATCCAGCGTGGACTTCTCCCTCAGTG___GTCGCCTGCTGTTTGCTGGATACAATGATTACACTATCAACGTCTGGGATGTTCTCAAAGGGTCCCGGGTCTCCATCCTGTTTGGACATGAAAACCGCGTTAGCACTCTACGAGTTTCCCCCGATGGGACTGCTTTCTGCTCTGGATCATGGGATCATACCCTCAGA___GTCTGGGCCTAATCATCTTCTGACAGTGCACTCATGTATACCTGAGAATTTGAAATCTTCACATGTAAATAGATATTACTTCTAGAGGAGCTTAGAGTTTATTGCAGTGTAGCTTAGGGGAGCAACCCATGGCTCACAGGTCACTAAGCGTCTCCAATATGACTATTAAAACTGTCACCTCTGGAAATACACTAGTGTGAGCCTTCAGCACTGCGAGAATACCTTCAAGTACAGTATTTTTCTTTTGGAACACTTTTTAAAATGTATCTGTTTTTAAGGTTATTCTAAATTATAGTAGCCTCAACTCATTCTGTCACCAGTAGAATTCAGCAGTTAATATATTCCATATTATTTCTTTGAATCAATTCATTTTCAGAGCACTTTAAAGTCTGATATTTCTCGATGTGCACTGTGATGCCTGGAACCTTCCTCTGGAAGTGCTGATTTTATGGACTGAGGACTGGTGACTGGTCTGTGATAGAAGCAAATTCCAATTCCAAATGTAATTAGACAAAAATCATTTTTTTAGAATGTGTTTTTATTGTAAAAGTATCTTTTTCAGCTTCCTGTTCTATTGTCTTTTTTCAGATACAACATTTTTGTCTATGGTGAACTGCTGTAAATGACGCAGAGAAATGCCTAAAAAGGACAGGTGGTTTGACTCATGGATGATGATGATGTCACTGTGCCACTTGGACAGGGCGTTTTCTCTGAATTGAAGGGAAAGCCAATGGTGTTTGTAAACAAATGCTTCTGAGAGCAAAGAAAAGTCTTCTGTGTGGGAACACAAGATAGTAAACTTATTTAAAAACCTATTAGTAGAATTAGTGGAAACACTTAGGTTAAAGTGAATCTTGTCCATATAAATTATATTCATGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGACCACGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGGTCGAGCCACTGCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAATTATATTCATATGTATTGCATTGCAATTATAATTACATATGCAGATTGATTGATAGTCATGAATAATAACGTCTGCTCCTCTTACATAGAAAAACGATATTAAAAGAAGATCTTCTCTTTATTTGAGACTCAGAATTCCTTCTAGAAGAAGGAAGTGCTTTTTGTTATAGGATCCCTTCTTTTCCTTTTTTTGTTTTTTTGTAAGATGTAGATGCTTATTCTTTGCTTTAGAAAACTTCTCACTTAAAAAGATGGCATGCACCTAGGGGAATAAAAGGTCACCTCAGACACCAGGTGTCATTCCTGGTGAGGCCTGCCTCGTCGGTGGCCTGGGGTCTGCCGGCAGGTTCTGGCTGCACCTGAAGGCTGCGTGCACCTTGTCCCCTGGACAGGTCTCCTTTCCTGGCCCTGCTCCAGCCCAGCCCTTCTTCTAGTGGTAGCTCTGGCTTTGCAGGCCCAGCTCCAGGCCCTGCTCCTCAGAGAGACTCTTCCAGAGCTGGAGCTGGGCACAGCCATAAGACAGGACTGGACCAGATGCTCCTGTAAACATCCAGGGGTGTGCCAGGCCCACCCTCACAACTGCTTGTTCAGGTATCGTGATGGGCCACTCGGTCCAAAATCAGCCAGGCCATCTTTTCCATCATCTCACTTCAAATAAACATAATAATTATATTTGATCATTTGCAGAGCAGTTACTGGTGGTTTTATTGTACACTGGGGTCTGGGGTAGAGAGAGAAAAATGAAGGGCCTCTGCCTTCCTCCAGGGAGCCCAGAGAGAGTGCTTTTTAGTCCCAGTAGATTCCAGTCTGGGCAGGGGCTCAGGAAATGGGCCCAGTGTCTGGCCAGCTCCTGCCAGGTGCTGAAGGGGTCAGGGCACCATGGGATTCCTGAGCTCTGCTCCAGAATGTCCCACAGTGGCCCCTGGTGCAGCTGGCCTCCTTGTGGTGGCATCCCCAACCCTCTCTCCCACAGCCATTTTTTTTTTTGTCTCTGCACTGTGCCTTCCGGCTCCCAGAAGTGCAGGAAGGCACGAGAAAGGAAGGAAAGGTGGCCCAGGGAAGCACATTCCAGGTTCCATGTTTGGAGAGGTGGAGAGCATCTTCAGGATATGTGCAAAGTAGACTGTGACTTTCCAATCCAAAAAGCCACTTTAAGGGCCCAGGGAAAGTATTCCAGAGAATGCTTCCACTCCCCGCATGGGCAGGAAGCCTCCTTCGCTGTGAGCATGCGCTCTCGCAGTGGGTGCTGTCGGGATTTGCTGATGAGATACTTGATTTGGACTATGTGACAGCATGTGGAGACTCAGGGGTAAGCTCCATGGGATAGATTGTATTTTGCAGATTGAAAATAATGCTGAGTGCATTTTATAATCAGCTTTTCTTTTTTCCAGAGGACTTGGGGATAAACCTACCAAACCAATTGTGGTGAAGGGGCCAAACAGATGGGCCCCCAGGGGTGTAGAGCCTTGGGCAGCCCCCTCCTGGGCCAGAAAAAAGAAAGTTCAGGCAGAAAGGTGTGGGTGATGGGTATTTATGGGAAATATCTGTGACATGAAGCCAAGTCCAGTGCTTTAGAATGCGCGGTCAGCCTCTCACCGGTGGGGCCCTGGCAGCCGTCCCTCTTCTCCCAGGCGAGCCAGAGGTGGGCATCCCGTTGCCACTGCCCTCTTCCCGCTCTTCTACCTCCTTTGCACCCTTCTCTAGGTTATAAGTGGCTTAAAACAGCACAGGGTTGTAAGGGCCTTTGTGTCCCGGGCTCTCATAGTTGCCAGGCCAGCTGGCTGAAAGGTGGCACCACCGATACTGGGACTCCTCTGTGAGTTAGAGGGATGCCTTGGTGACATAAGAGGGCTGGCCTTCATTCACACCCACCTCTGTCACGGTCACAGAATATATGATAATATCTGAGTTTTTCTCAGCCTCAGTTTCCCCATTTGTAACATGGGATGGGACTAAAATATGTAAAGTGCCTACCTCAGCCTTTAGCACATCTTCAGGAAGGGTTAGTTCCCAGCTTCTCCCTGTGTCCTCCTCAGTCCCCTTCCTATTTGCCCCCCTCCCTTCTCCCTCCACCTATCTTCCCTCTTTCTCTTCCCTTCCCCTCCTCCTCCCTCTCTCCTCCCTCTCTCCCATTTCCCCCTCCCTCCCTCCCATCTCCTCCTCCCTCCCTCCCATCTCCTCCTCCTCCCTCCCATCTCCTCCCTCCCATCTCCTCCTCCCTCCCATCTCCTCCTCCCTCCCATCTCCTCCTCCCTCCCATCTCCTCCTCCCTTCCTCCTGTCACCCCTCCTCCCTCCCTCTCATCACCTCCTCCCTCCCTCCCATCGCCTCCTCTCTCCTTCCTATCTCCTCTTTCCTCTTCTCTGCCCCCTCCCCCTCTCCTCATTCATCCGGACTCCTTTTTCTAACCCTTCTCAATCTTCCCCCATTCCTCATCTCCTCTTCCTCTGTCTCCCTGTTCCACCTCTCTCCTGGTCTCCTTCCTTCCCCTTCTGCTGTTTCTCCCTCCCTCCTCCTCCCTTCCCATTCCCCTTCCCCCAGCACTTCCTTTTCTCCCCATCTCCTCCCCATTCCCCTTCCCCCAGCTCTTTCTTTTCTCCCCATCTCCTCCCCATCCATAGGCAGCCCCCACTCATATAGCAAATTAGTAATTCTCATCAGTTAGAGCTTCGTCTGGGCTAGTGGTTCTCAAACTTTTTGGTCTTAGGATCTCTGTACACTTTTTTTTTTTTTTTTTTTTTACGTGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACCAGGTTTCTCCATGTTGGTCACACTGGTCTCGAACTCCCAACCTCAGGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGTGCCCAGCCTACACCCTTAAAAGTTATTGAGGACCCCAAATAACTTGCTCATTGTGGATTGTATCTATCCATATTTATTGTATTAGAAATTAAGACTGAGAAAAAGTTATAAAACACAAGAATACAGATGCACACGTTCCATTAGCCATCAAGGTGATCTTTCTCCCATGCCAGTAGTCTCTGGAAAATTCCTGAGAGGATGAAAATAAAAAAATCACCCATACAAAAAAAAAAAGTGTCAATATTATTATGAAAATAGTTTTGACCGTGAGGACCCCCTGAAAGGGTCTCAGGGACCCTCGGGGGCCCTGGATCTTGCTTTGAGAACAGCTGATCTGGGCTAATGAGCCCTTTTCCAGCCCCTCTGTGTGAGACCTCCCAGAAACCACTAAGGGCCTTGGAAGAGCTTGGCAAAGAAAGAGGTGACAGGATGATTGAGGAGAGCCACCCTAGGGAAAGCCTTCAGAGGAGGCTTTGGGACAGCCCCGGTCGGTGGAGGAAGTCCCAGAGAGGCAGTCGGAAGGGCTAGGGACCAGCTGAGGCCTGTGACCTGAAAATCCTTTCAAAAGAGGACGCCTGGAAGCCTGGGGAAGGCACAGTGGGTGGGGTAGAAGACTGGGGCTGAGGCCCAGGCCATTCCCAAGCCTGGAAGAGCTGATTGAGTGGGGATTTGTAGATCTTCATTTCCCAAACTTGCCTGCTGAGAAGAATCGTCCCACCCATGGCAGGTTCCTGCACTGCGCCTTCAGGGCCCTGCCCTGAGATCTGGACTGGGCGGGCCTGAGGTGGGCCAGGAAATCTGAGCCGGAGGCCCACTGGGGAGGCCGCGAGTGAATCTTGTCTCTGTGGATCCTTTGTAAGGATTGCCATGCTAAACCACTTGCCCTCTCATCCGTGACCGGAGAGAATTGGGTCACTCTTCCAGACATACCACAGACTCCTGCTTCTAGACAGCACTTGGCTGGAGCCAGGCTGGCCTTCAGGGTTGGTCAGTCTCCACAGGGGACTCTGGCCTCCCGTGGGCTGCCACAGGGCCAACCCCAGTGAAAGAAATGAAATGACTGAATATGTTCATGTCATTAGAAAAAGGATGCAGCAGGGGGTGGGGAGGAGTTGGTTAATGGAATCAAATTTGCAGCAAGATAGGAGTCTAGTGTTTGGCGGCACTGTAGGGTGACTATCGCTAACAATAATTTACTGTGTATTTTCAAGTAGCTAGAAGAGAGAATTTTGAATGTTCCTGTCAACCTAAATAACAAAGACAGGCTCGCTAAAGATATTTAATCAAAAGTAGGGCATTGCAACAGGAATATGTGTGCTGTAGTAAACTGTGTGCATATTCCAGGAGGTAAAGAAAAACAAAGGTGACTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTGTACTAAAAAAAAATATATATATATATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTGCTCGGGAGGCTGGGGCAGGAGAATGGCATGAACCCAGGAGGTAGAGCTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGACTCAAAAAAACAAAGAAAAAAAAAAAGAAAAACAAAGGTTTTTAAAGGAAAAAATGAGGAGGATTACATAATGGTTTTGAAATAATTATCCTTGGCTACAAATATCAATAACAAAGGTCACACCAGTCCGAGGTTGGACAGGCAGTTGCTAGGCAGATGTCTTTGCAGAAGTAATTTTTGTGTGAGGTTGCAGCAGCCTATGTGCAAGGTTGTAATTTTTGCAGAATCTTTTGTGATCATTTTTGGTATTAGGCATACAAGCATGAGAATCCCCTCTTCATGGCCTCCCCAGCTCTATTTGTCATGGTTTGTTTTTTTAAAACACTAGTGACTCTATTTGAATTCTAACAACTTTCACATTCCCAACACAAATGATAGACATTTAAGGGATTAATATGCTAATTACCCTGATCATTACACATTGTATACATGTATCAAAATAACACACTGTACCCCATAAATACATACAATTATGTGTCAATTAAAGATCATTATTTTTAAAAATAGGACCAGAAAAAAAGATGCAGACCCTCTAGTAAGGAGATGGGATCAGGAGTGATTCCATGGTTAATTTAACCCACATAAACAACTAATCGTAAGTATGGTATGAGCGTTTATGTAAAGACTGTGACAACAGGAAATGTCTGTCTTTGAACCCAAGGTTATCTAACCAGCACACCAATGGTGAAAGATTAACTTTGTCAGAAACCAGGAACCATGAAGCAGAGGTCACTGTTTCCAACCTGTGTGTTTTCCACGGTAATTGGCAGCCTCCCCAAGGGAAATTAAAACATATGTCCACACAGAAATTTGAATGCAAATGTTCATAGCAGCATTACTCATAATAGCCCAAAGCTGAAACAGCCCCAATGTTCCACAGTGGATGAATCGATGAACAAAATATGGCGCATCCACAGAATGGAATACAAAGAAAGAAAGCGTGGACACATGCTGCAACATGGATGAACCTTGAAAATATTGTGCCAGGGGAAAGAAACCAGAGACAAAGAGCCACATGTTGTAGGATTCCATGTATATGAAAGGTCCTAATAAGCAAACTCATAAAGACAAAAAGCAGATTGGTGGTCACTTAGGGCTAGGGTGAGGAGTGACGGTTAGTGGGCACTGAGTTTCTCCGGGGGGAACTGAATTAGATGGTGGTGATTGCACAATTCTGTGAATAGACTAAAAACCACTGGACTGTAAGAGGGTGAATTTTTTGGTATATGAATTACATCTCAATAAAGCTGTTACTTAAAACGTGGAAAAAATAATAAGCAGTCACTAGCTATTCTCAATAAAACAGAAACCACATAGGTAAGACCAATATTGTCACATTTTGGTTTTGGCTGATAATGGGGCAAGTGAGCATAGTCACCGTTGCCAGAGGATTTACCATTTACAAATAAAAGTTTCTGTGGAGTGACAACCTTTTACTGTGTGCCAGGTACTGTGCTAAGCACTTTGTATATACCGATTCATGTAATCCTTGTGACAGCCCCGTGATGCCCCATTTTTAGATGGGGAGATTGAGGTTAGGAGAGTTGAATAACTTGCCCATAGCTGCACAGCTTCCAAGTTGCAGAGACAGGATTTTCACCGAGTCTTATTACAAACTGCCTCATATTGTGTGGACTGGAAATTCTATGTTGAGGTTAATTTATTCATTTGTTGTTTAGTTCTTTTCATCATTGTTGAGTTACCAATGGCAGTTCCAGAGGATTTATCATTTACCCCAAAGCTACTGCAAATCTAAGAGAAAACAATGTTCTTGCTGCTAAAGTTTAATGTACAAAAAGGTAAAATCATGACTGTCTTGCAAATAAAACATGAACATGTA)$ MLWLALGPFPAMENQVLVIRIKIPNSGAVDWTVHSGPQLLFRDVLDVIGQVLPEATTTAFEYEDEDGDRITVRSDEEMKAMLSYYYSTVMEQQVNGQLIEPLQIFPRACKPPGERNIHGLKVNTRAGPSQHSSPAVSDSLPSNSLKKSSAELKKILANGQMNEQDIRYRDTLGHGNGGTVYKAYHVPSGKILAVKVILLDITLELQKQIMSELEILYKCDSSYIIGFYGAFFVENRISICTEFMDGGSLDVYRKMPEHVLGRIAVAVVKGLTYLWSLKILHRDVKPSNMLVNTRGQVKLCDFGVSTQLVNSIAKTYVGTNAYMAPERISGEQYGIHSDVWSLGISFMELALGRFPYPQ|ctrwrsgwrpwgsls* 11BR019 ENSG00000091831.23 ENSG00000120262.10 +/+ +/+ chr6:151702005 chr6:151573174 5'UTR/splice-site CDS/splice-site duplication 1 1 0 11 15 medium . . . . . ENSG00000091831.23 ENSG00000120262.10 ENST00000440973.5 ENST00000239374.8 downstream upstream . GAAGAAcAAAACTAGGAAGGAGTAAGCACAAAGATCTCaTCACATTCTCCGGGACTGCGGTACCAAATATCAGCACAGCACaTCaTGAAAAAGGATGTAGATTTTAATCTGAACTTTGAACCATCACTGAG|GACCTGCTCAGTGCTGTAGAAGCAAAAGAAGCTCTTGAAAGGGAAGTTAAGATCTTCCAAGAAAGGCTGCTTGCTGGCCAGCAGGTCTGGGATGCCTCAAAGCAGGAAGTGAGCCTCC(TGAAGAAAAGCTCTTCTGAGTTGGAGAAGAGTTTGAAGGCCAGTCAGGATGCAGTCACAACCTCACAAAGCCAGTACTTCTCATTTAGGGAGAAAATCGCAGCCCTCCTTAGGGGCAGATTGAGCATGACTGGGTCCACTGAGGACACCATTTTGGAGAAGATTCGAGAAATGGACAGCCGGGAAGAAAGCAGGGACCGG___ATGGTCTCCCAGCTTGAAGCCCAAATATCTGAGCTTGTTGAACAGTTGGGAAAGGAGTCTGGGTTTCACCAGAAAGCTCTCCAGAGGGCCCAGAAAGCAGAGAATATGTTGGAGACTCTTCAGGGTCAGCTGACACACCTGGAGGCAGAGCTGGTTTCTGGAGGTGTTTTGCGAGACAACTTGAATTTTGAGAAACAAAAA___TATCTTAAATTTCTGGATCAGCTTTCTCAGAAAATGAAGTTGGACCAGATGGCTGCCGAACTTGGCTTTGACATGCGGCTGGACGTGGTTTTAGCTCGAACAGAGCAGCTGGTTCGTCTTGAGAGCAATGCAGTCATTGAGAACAAGACCATTGCCCACAATTTGCAGAGAAAG___CTAAAGACACAGAAAGAGAGACTGGAGAGCAAAGAATTACACATGAGCCTCCTCCGGCAGAAAATAGCCCAGCTGGAGGAGGAGAAGCAGGCACGCACGGCCTTGGTGGTTGAGAGGGACAACGCGCATCTTACCATCAGGAACTTGCAGAAGAAGGTGGAGAGGCTGCAGAAAGAGCTGAACACGTGTCGAGACTTGCACACCGAGCTCAAAGCCAAACTGGCCGACACCAATGAACTGAAG___ATTAAAACTTTGGAACAGACTAAAGCCATTGAAGATCTAAACAAATCCAGAGACCAACTGGAGAAGATGAAGGAGAAAGCTGAGAAAAAGCTCATGTCTGTCAAGTCAGAACTGGATACCACAGAACATGAGGCTAAGGAGAATAAAGAAAGGGCCAGAAACATGATAGAAGTGGTAACCAGTGAAATGAAGACACTAAAAAAATCTCTGGAAGAAGCAGAAAAGAGAGAAAAGCAG___CTGGCAGACTTCAGGGAGGTGGTGTCGCAGATGCTAGGCTTGAACGTGACCAGCCTTGCTCTTCCTGATTATGAAATCATCAAGTGTCTTGAAAGATTGGTCCATTCACATCAGCATCACTTTGTTACCTGTGCCTGCCTCAAAGATGTGACTACTGGGCAAGAGAGGCACCCACAAGGCCATTTACAGCTTCTTCATTGAACACTGTATCTCTTGAGAGAGGTGGCCATAAGACATGGCACACAATTCCCAATTTCACAAATTCCTCATGTCTTTGAGATTTGATCAGTTTGTGAATATTTTATGCTTTGATGATATAGTGAGAATGCATCACTTGCAAAAACGATCTCAAAAGTGTCAGCCTTAGATAAACGTTCAGCATTAAAAACGCCTATTATTTCATTTACTAGCATTTTAGGATCCAGAAGAATTCCACCAGATTGCATGAGTTAGATTGGGAAATGGGAGTGGGAGATAATATTGGGAGGTATCTATTTTAAGTCAGGGGCTTTACTAGCCGATTTAGTTCTCACAATAACCATGTGGAGAAGCTGTGACATTTTTAATTTACAACCTTTCTGGGGCTCAGACATAAAGTTACCTATCCAAGGTTGCAGTTGGGTAGTGGTGGGACCAGGATGGACAACTCATTGGCCCTGCCTCAAAAGCCATACCTCTTCTCCTGCTATGCAGAATCTGTTTCTCCTGAATCTCTGTGATGCTGGTGGGAATTGTTTGCATAGAGGAAGGACAATAACCCTGCCATCGTGAGTTAATGTCCGGGCTGGTCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGTCCAAGGCAGGCATATCATTTGAGGTCAGGAGTTTAAGACCAGCCTGGCTAACATAGTGAGACCCTGTTTCTACTAAAAATACAAAAATAAGCCAGGTGTGGTGGTGCATGACTGTAATCCCAACTACTCAGCAGGAGAAGCACTTGAACCCAGGAGACGGAGGCGGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTACATCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAATGTCCAAAAATGACAGATTTACAAGTGTAAGCTATATGATTTCTTCAAAAAGCAAAAGCAATATACCTAATTCATTTGGATCAAACTTACATAGGTCTCAGGTCCTGTAAGAAACTTGCCTGTTCTAACTGTTGCTACCAGATTATATCTGGTGGTAATTGTTAATGTTTCAGCAGGGCTGGTCTCAGTCCTTTAAAATGGAAAGCTTTATTTGGAGCCCAACCCTATAAGATGAAGAAATCCTATATAGTCTTATTCACCAATATATCCAATACACCCACAGCAATGGTACCTTTTTAAGATCAGGATTTTATTATGAATTCCTGTCACTTTCTGTTTTCCATTTAAATTTCTATTTTACAAATTTTTCAGGGAATCATATTCTTAACTTCACTGAGAAAAATGTGTTACTCTTTTGGACAATTTATCTTATTTCTATCATATAAGATGTATTTTTTTATTGTCCTTAAAAGAAGCTCTAGCATGAAATTAAAGGAAAGGGAAAGAAATAGATCTGGTGCACCCGAACATTAGGAGAAAATGAAAAATATACAACCAACCGTTCGTGAGTCATCAAAAAGTCAAAGTCAGCCTGGCCAACATGGCAAAACTCCGTCTCTGCAAAAAATACAAAAATGAGCCCGGTATGTTGGCATATGCCTGTAATCCCAGCTACTCGAGAGGCTGAGACACGAAAATTGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCTACTGCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCAAAAAACAACAACAACAAAAAGTCAAAGTCATAATAAGCAAATTATTGGCTTCTTTCTTCTAGACTAAAAGAAATTAAAGAGATGAAACAATCAATTGCAAGGGTCAAAACTAGATTGGATCTTGGTTTGAATGAAAAAAAGCATAAAATATTCTTGCAATAATTGTAAAAATTTGAATGTGGACTAAGTCCTAGATTATATTAAAATATTTTTAATTTTTTAAGCTTGACAAATGCACTGATTGTTATACTTTAAATAACTAAAAATCTGAGAATCCACAGTGCTACAGACAATAAGTGATAAAATGGGAAAAAATAGTGAAGATCTTCTTTTAGGAAAACTACCAATAAATGTAGAATGGATGATTCCAAAAAAAAAAAAAAAAAGAAGAAAGAGAGAAAGAAAGAAACAGAAAAACCTAAAAGAAAGCGAATGAATTTGACACCTGTTGGTTGGATGACAGACCACACAGAGGGAGAGTGACCAGGCTTTGCTTGTGGAGCGGGCATCCCTGCCTAGCTATCTCCTTCATGTGCAAGGACAGTATAAGTAGTATTTTGCATGTGAGTAAACACACCTGCGCAGCCCTGGCTGAGGTCACTAGGCTGGCCAGAGGCAGGACAGGCAGTCTTGAATTTCCTCTAGGGGAGGCCTGCAGTTTTCCCCACCAACCCCTTTTCACATGCTCCAAAGATGTAGTAGTGTCTGCTGTTTTGGATCGAAAATCACCTTGAGTGGAGGAAGTGACTTCACTGGGTCTCTGGAGGCTCTCGGAGCTTGAGTGGCTCTGCCCCACCCTGAATCATGCACCCATAAATGCAGTTATGGGTGGATGTGGGTGTATGAGAGTGGAGATTGTTTTTGTACATTCTCTTTGTTTTCATTTTCCAAATATAATCTTTAATAAACTTGATTTAGTTTCTTGGGAAATTTATTTTCTACGCTATTCAAAGATATTTTAAATAATATTTTAAAAACATGAAATTTTTTTTTCATTTTTGATTTGATATCATTAATTTTATATCAGGATTCATGTAAGAGACTAAAAATGATCCATAGTGGTTAGTACTGTAATTTCTGTTTATTACATGAAATTACATTCCATTTATCCAAATATATGTTTATATAATATTTCCACTGTGTGACTCTAGTGATCTTTAACATACACAGAATGATCTACAGTGATCTTTAACATACTCAGAAATATGAAAAATGTTTGAATATGATCTTTAGGGACTTCTAATGAAAAGGGTATATGAAATGGGAACAATAAATTCTGTACATGTATACAGTCCATATACACATTAAGTGTTTGTCATTTGGACAAATTGAAAACTTTTAATAAAGCCATTTTCTTCTTTGTTAAAATGCCA)$ . 11BR020 ENSG00000181896.12 ENSG00000140374.16(6268),ENSG00000159556.10(19036) +/+ ./- chr19:19668966 chr15:76317737 CDS/splice-site intergenic translocation 21 21 0 195 40 high out-of-frame . . . . ENSG00000181896.12 . ENST00000592502.2 . downstream downstream . ^ATTCGGGTCCGGGTTTTAGTTCCTCGGGGAGCCCCTGGTGCCCCGGATACGGCTGATTTTGTCGTGTGGGACCTGTTCTGGCTGCTCCAGCCCCAGGAAGGACCCAGGACACCCGGAAGCCGGAAATG|CCCTAGGAGAAAAGTGGATCAGAAACAGTATGCATTCACATGGAACAAACAACAGTCTACAATCACAGTTTTGCCCCAGGGCTATGTTAACTTTCAGCATCTATCAATCACAATACAGCCTGAAGAGGTCTGGACCATCTGGACATACTGTAGAACATCGCATTGATCTTTTACATCAATGACATTACATTGATTCAGCTGGGTGGAAAAAAGTGGATAGCACATTAGAGGCCTTGG M|p* 11BR020 ENSG00000142453.12 ENSG00000258741.4 +/+ -/+ chr19:10916777 chr15:92727209 CDS/splice-site intron translocation/5'-5' 20 21 1 168 49 high out-of-frame . Coactivator-associated_arginine_methyltransferase_1_N_terminal(100%),PRMT5_arginine-N-methyltransferase(100%),Ribosomal_protein_L11_methyltransferase_(PrmA)(100%)| . . ENSG00000142453.12 ENSG00000258741.4 ENST00000327064.9 . downstream upstream duplicates(1) ^(CTCGGCCTGCACGGCGGCTGCGGCGGCGGTAGCGGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCCTGGGCCCGGGCGCAGCGGCGGCGGCGGCGGGGCCTGGAGCCGGATCTAAGATGGCAGCGGCGGCGGCGGCGGTGGGGCCGGGCGCGGGCGGCGCGGGGTCGGCGGTCCCGGGCGGCGCGGGGCCCTGCGCTACCGTGTCGGTGTTCCCCGGCGCCCGCCTCCTCACCATCGGCGACGCGAACGGCGAGATCCAGCGGCACGCGGAGCAGCAGGCGCTGCGCCTCGAGGTGCGCGCCGGCCCGGACTCGGCGGGCATCGCCCTCTACAGCC___ATGAAGATGTGTGTGTCTTTAAGTGCTCAGTGTCCCGAGAGACAGAGTGCAGCCGTGTGGGCAAGCAGTCCTTCATCATCACCCTGGGCTGCAACAGCGTCCTCATCCAGTTCGCCACACCCAACG___ATTTCTGTTCCTTCTACAACATCCTGAAAACCTGCCGGGGCCACACCCTGGAGCGGTCTGTGTTCAGCGAGCGGACGGAGGAGTCTTCTGCCGTGCAGTACTTCCAG___TTTTATGGCTACCTGTCCCAGCAGCAGAACATGATGCAGGACTACGTGCGGACAGGCACCTACCAGCGCGCCATCCTGCAAAACCACACCGACTTCAAGGACAAG___ATCGTTCTTGATGTTGGCTGTGGCTCTGGGATCCTGTCGTTTTTTGCCGCCCAAGCTGGAGCACGGAAAATCTACGCGGTGGAGGCCAGCACCATGGCCCAGCACGCTGAG___GTCTTGGTGAAGAGTAACAACCTGACGGACCGCATCGTGGTCATCCCGGGCAAGGTGGAGGAGGTGTCACTCCCCGAGCAGGTGGACATCATCATCTCGGAGCCCATGGGCTACATGCTCTTCAACGAGCGCATGCTGGAGAGCTACCTCCACGCCAAGAAGTACCTGAAGCCCAGCG___GAAACATGTTTCCTACCATTGGTGACGTCCACCTTGCACCCTT)CACGGATGAACAGCTCTACATGGAGCAGTTCACCAAGGCCAACTTCTG___GTACCAGCCATCTTTCCATGGAGTGGACCTGTCGGCCCTCCGAGGTGCCGCGGTGGATGAGTATTTCCGGCAGCCTGTGGTG|ACATGAGATATGAAACCAAGTACCAAGATAACTAGACAAGCCCAACTCCAACGTATCACAAGACGCTTGGGACTTGCAAAAAAGGAAGCTTGGAGAATCgACATGATTGGGTGAGGCAGCTATCTTCAGCTTTAATTTGGGACAATTACGCAGGGTCATCCCAGCTCCAGAACTAACTCTCCGTGGAATCAGCAGAGGCCTTCACTGAGACTGCTGCAGTTCAAATTCTCCCTCTGGCCAACCCCACAGGTGTTAATTCCAAG MAAAAAAVGPGAGGAGSAVPGGAGPCATVSVFPGARLLTIGDANGEIQRHAEQQALRLEVRAGPDSAGIALYSHEDVCVFKCSVSRETECSRVGKQSFIITLGCNSVLIQFATPNDFCSFYNILKTCRGHTLERSVFSERTEESSAVQYFQFYGYLSQQQNMMQDYVRTGTYQRAILQNHTDFKDKIVLDVGCGSGILSFFAAQAGARKIYAVEASTMAQHAEVLVKSNNLTDRIVVIPGKVEEVSLPEQVDIIISEPMGYMLFNERMLESYLHAKKYLKPSGNMFPTIGDVHLAPFTDEQLYMEQFTKANFWYQPSFHGVDLSALRGAAVDEYFRQPVV|t* 11BR020 ENSG00000099381.18 ENSG00000183454.17 +/+ -/+ chr16:30959186 chr16:10160844 CDS/splice-site intron duplication/5'-5' 10 24 3 57 60 high out-of-frame . . . . ENSG00000099381.18 ENSG00000183454.17 ENST00000262519.14 . downstream upstream . ^(GTCAAGGTCCCGGGCCGCAGCATCTAGATCGTCGTGGCGAAGCCGACTCTCCGGGGGATGCGGCCAATCTCCAAGCTCCCTGGGCCGCAACTTCCGAGCCTCCCAGGGCGCCGGCCGAGGCGAAGCCGCTACCCTCGGCCCCGTGGGTCCCCCGGCAGCGCCTGTGGCGAAAGTGCGAATGCAGACCCTGTGCCCGCTGGGCCTCGCGCAG___TGT)AAATGAGCAAAGATGGATCAGGAAGGTGGGGGAGATGGGCAGAAGGCCCCGAGCTTCCAGTGGCGGAACTACAAGCTCATCGTGGATCCTGCCTTGGACCCTGCCCTGCGCAGGCCTTCTCAGAAGGTGTACCGCTATGATGGAGTCCACTTCAGTGTCAAC___GACTCAAAGTATATACCAGTCGAAGACCTCCAAGACCCCCGTTGCCATGTCAGGTCCAAAAACAGAGACTTTTCCCTCCCAGTCCCTAAGTTTAAG|GCACAAAAATGATAAGGAAACTTTGCTTGGGAAGAATTTCGCAGAG___GACAGCAGACTAGCAAGACGATATGGATTTCAAATGCCACTCACTCTTCCTGGGCAGGTATTCCTAATTTGAAGAGACAAGATAGAGCAGGAGACATTCAGCCATTTGTGACAACAAAACGGAAATCTGCAAAAAGCTCAATGTTTGATGGTAAGAAATGCCATCCAGAGGAGAATTTGGAAGCTTTCAAGACCACTCAAGACTGGCAGCCTTGAGGAACAGGTTAAGAGGAGAGGAAGGC MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVNDSKYIPVEDLQDPRCHVRSKNRDFSLPVPKFK|aqk* 11BR020 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 19 17 0 45 52 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(2),mismappers(2),mismatches(1) GCAGGACCGGCCCCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTcCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGAT(GGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR020 ENSG00000268362.6 ENSG00000140538.16 +/+ -/+ chr19:24049548 chr15:87942232 exon/splice-site intron translocation/5'-5' 22 12 0 151 60 high . . . . . ENSG00000268362.6 ENSG00000140538.16 ENST00000659757.1 . downstream upstream . ^(GCTCCCACCAGAGCTTGGAATCCGTCTCTGCTCTTCTGCATTCTCCACCTCGGGAGCCCCTGGGGACTCTGTGACGGCCTCTGTTGCCCTGTGATCTGCAGGTCCGGAGAGACGCACAGCTAAGATGTCAGGACATCCTGGAAGCTGGGAAAGG___GTCTTGCCATCTCTAAGCTGGACCTGGTGACCTTTTTGGAGGGAAAGAAAGAGCCCTGGACTGTGAAGAGTGAGGAGACCATAGCTGCACAGCCAG___AGATGGGGTTCCATCATGTTTTCCAGGCTGATCTCAAACTCCCACGGTCAAGCGATCTGCTGGCCTCGGCCTCTCAAG___TCCAGATGTATAATCTCAT)CCCTGAACATTTCTGATGGTGTGATTATGACATGTGACTTTATCTGGCAACAGAGTGAGTTGTTGCTCCtGCCTGAGCCCAGCCCCCAGAAAGGATTGTGACATATCGTTGGACCCAGAATTGAG|GACAGACCTGCACGTTAACAGCTGCTGACGACCGCTCCTCCCAAGCCACAGGCTGCAATGCGGCTGCTACACACTGCAGGGCTATGCCCCAGTCTTTACAGGGAGGGGATTAAAACTGGTTCCCTTCTTCACACTTTCTGTCTCTGTTTCTCAGCCTCTGAGGAATGGTATTTGTTGACCTTGGAGGGCAAGGCTAAAGAGTCTCCCACTGCGAGAAAATAGGAAGTCAGGCCCTCTCTCGGGAGGCCACCTGCTCCTGCTACCTAATCATTCCCAGGTGACTAGGGATGACACATAGGTTCTGCAAGGTGAGTGTCCTGGCACGGCCTGGGAGTGAAGACAGGGCTCACGATGGCAG . 11BR020 ENSG00000108175.17 ENSG00000062650.19 +/+ -/- chr10:79242969 chr10:86453831 intron CDS/splice-site inversion 10 20 0 22 237 high . . |Wings_apart-like_protein_regulation_of_heterochromatin(100%) . . ENSG00000108175.17 ENSG00000062650.19 . ENST00000298767.10 downstream downstream duplicates(1) CTGCTCGTCGGGTCGTGCGTTCGCTCGGCAGCGGCGTGCACCAGCACCACCCCTGCGTGCAAGTTTGAAATGTGAGCTGCCTCCGATTCATACTCGCTCGCGCTCCCTCGCAGCGAAGTGGCTGGGCTGACGGTCTGCGCGCGCGA|AGCATTACAGCATTGTGAAGAACTGATTCAGCAGTACAACCGTGCTGAGGACAGCATATGCTTAGCTGACAGTAAGCCTCTGCCTCACCAGAATGTAACTAACCATGTAGGCAAAGCAGTGGAGGACTGCATGAGGGCCATCATCGGGGTGTTGCTTAATTTAACTAATGATAATG___AGTGGGGCAGCACCAAAACAGGAGAGCAGGAC(GGTCTCATAGGCACAGCGCTGAACTGTGTGCTTCAGGTTCCAAAGTACCTACCTCAGGAGCAGAGATTTGATATTCGAGTGCTG___GGCTTAGGTCTGCTGATAAATCTAGTGGAGTATAGTGCTCGGAATCGGCACTGTCTTGTCAACATGGAAACATCGTGCTCTTTTGATTCTTCCATCTGTAGTGGAGAAGGGGATGATAGTTTAAGGATAGGTGGACAAGTTCATGCTGTCCAGGCTTTAGTGCAG___CTATTCCTTGAGCGAGAGCGGGCAGCCCAGCTAGCAGAAAGTAAAACAGATGAGTTGATCAAAGATGCTCCCACCACTCAGCATGATAAGAGTGGAGAGTGGCAAGAAACAAGTGGAGAAATACAGTGGGTGTCAACTGAAAAGACTGATGGTACAGAAGAGAAACATAAGAAGGAGGAGGAGGATGAAGAACTTGACCTCAATAAAG___CCCTTCAGCATGCCGGCAAACACATGGAGGATTGCATTGTGGCCTCCTACACAGCACTACTTCTTGGGTGTCTCTGCCAGGAAAGTCCA___ATCAATGTAACCACTGTGCGGGAATATCTGCCAGAAGGAGACTTTTCAATAATGACAGAGATGCTCAAAAAATTTTTGAGTTTTATGAATCTCACT___TGTGCTGTTGGAACAACTGGCCAGAAATCTATCTCTAGAGTGATTGAATATTTGGAACATTGCTAGCTGCTTTACCTTTGCTTCAGGTGCTCGGTAATGCTGGAGCTATCCTTAGACAAAGAAAAGTCAAGTCATGAAAGAAGTCCTTGAAGATATACCAAGAACATTCATCAGTATCATTCGTGTTTGGATTTTTAAGGCCACCTGATTTCTTCGTCATGCATTCGGCATTTGCTAAATGACAGTTACTACATCAATCTGCAACTATCAAAAATGAGGGGAAAAGGTTCAGGCTGTTAACAATTCCATGCAGTATTTAAATACATTTACTTTGGCAGAGTTTATACCCTCCCCTTGTTTTCTTGCTTTATTCTGGGCAAGTTTGAAGGGGAAAATTTGTGCTGCTGTTAGTGCAACTGCTGTGTATGTTGAGCCACTGTTGTCATGCCAGCCAGGTGCAAAGGCAGCTTAGCTACTGAGGTAGCGAATGTTCTGAGGACATTCTAGACAACAGCTTAGTTCCTTTTTCAGGCTCATTTGCTTTTGCTTTTTTGTTGAATGATTCCAATCGTAAATAAAGCTTTTAATAATTTTGTGAATTTTTTGGTTGTTGTTCCCTGAACTACTGTCTATATTTAAAATTAGATGGAATCCAAAGATACACGGGATTAATAGTATATTTTTTTATTCTTGATTAGGTTTGGGTTATTGAACTATTTTTTACTTTTGAGACCACAACCATATTCAATATCATACCATAATGTGTCATAGCTATAGGCACAAGAAAAACAACAGTTTGAGAGAATATTATATAAGATGATGTGCCCTGTTAAAAGGAGGAGGCAAAATAGTCAAACCCAGGGTAGTTTACACTTAATGCTAGGGAGGCTCTTAAAACATTATTAGATTTTGAGGAAAGACTCTCTAGATATATTTTCTAATGTTCAGTACAATAAATATAAGGAAGCTAAAACACCAATGTGGAATTCCTGTTTCCAGATAACATGTATATTCTTCTATAGAGTGACAGGATCAATTGCATAAGCGCAAAGCCTTAAATTGCTGGTTTAGAGAAGACCCTTTTTTCATTCAGATTCTTTGTTCGTAGAGCAGTTATTTGAAAAACAGTTATGGAACACAAAACATTTTATAGATTTAATATCATAACATTGCAAATTTTTCTTGTATTATTCACACCACTGGTTATACTTTTTTTTTTCCTTTTTTATTGATTGGGCCTGAATACAGGCTTTCTAGAGATCTTTTTCATTAATACTTTTAAATACCTTTCAGGTAGTTACATCATGTTTCTTCATTGGATTTGTAAAACTTGAAGCCATAAAAATATTAGTTTGGTGTGTATTGGGGAAAATAGCTAAAAGTCTAATTTTTACCCATTTAGACTTTGTTATTTCCTTGTATAAAGTGACAAATCGGGGCTCTTGTATCAGTGCCAGCTGTAATGTTTTTAAATGCAGTGGCTGCCTTCTATTGTCTTCCTATTTTTGATAATGCAGATTGTTGGGAAATCTGTAAGGAAGTAACTGATTCCAGGCAAATTGTTTTCTTCCTTCTACCCACCCCAACCCCTACCCATCACCTTTTAAGAACATAGTACGCCAGTGTAACGTGGGAACCATTGAGATTGTATTTGCCCTGAGTATTAAAGCTAGCTTAGCAAAATACTTTTAAAAACATATTGGTAAATGATACCCGTAAAATTAAATTAGTTATATTTTATTTTAAAATGCAAAATACATTGATATTTATTAATCATTGGATTTAGGGAAAGGGACAGATTTTTGGTGAACCTGACTTGTGGCAGATGGTAAGGAATATTATAAAACATTTGGATGAGAACAATCAGGGCGAACTGCATTTTTCTGTTACACTGGTAATCATTTGAAAATTGATTTACCTCAGTGTTTAACAGTTTTTTGTTTTGTTTTGTTTTTTAAATAATAACTAATTGTCGAGCACTGATAGAGATGCAGATTTTGGTGGGGGGAGGTGGTGGGGGAGATAATCACTTCACCAACTGCAGTGCATTTGTGTGTTTTTAACCCTCAGAGAACTCTGCATTTTAGGGTACTTGAGGCTGACTTAACTAAAAGTTTTAAAGTAACCTTTTTTCCATTGTAAATATTTCTGTAAATACTACCAATTGGAAATTAGAACAGTAGAGTACTTTTCTGAATCCAATCCTATTTTTATTTTATACAGTATTTCTCAGCTGTGATCTTTGGAGCAAAAGCCAACGGCAGGAAAAAATAGTTTGTACCAGTTTCATGAAGTATGTCTTTGGGTTTTTGTAAATAATTTTAACTCAAATAAAATTGCTACTTTCAATACA)$ . 11BR020 ENSG00000095066.11 ENSG00000254303.1 -/- -/- chr19:12770932 chr8:122046711 CDS/splice-site intron translocation 16 13 0 130 38 high out-of-frame . HOOK_protein(100%)| . . ENSG00000095066.11 ENSG00000254303.1 ENST00000264827.9 . upstream downstream duplicates(4) ^(GAGGCGGAGCCTGGGCTTGGGGGCGGGGCGGGGCCTGCGCCTAGGGGGGCGGGGCGGGGCGGCGCTCTAGGCCGAGCGGGAGGTCGGGGCTGCGGGCGCTCGCTGGTGGCGGACCCGGAGGCTGCTGCGGCGCCGGGGCTCCGTGGCCTGGATTGAATCCGATCGGGAGCCATGAGCGTGGACAAAGCTGAGCTATGCGGGTCTCTGCTCACCTGG___TTACAGACGTTCCACGTTCCGTCTCCCTGTGCCAGCCCTCAGGACCTGAGCAGCGGCCTTGCCGTAGCCTATGTGCTGAACCAGAT___AGACCCCTCCTGGTTCAACGAGGCATGGCTCCAGGGCATCTCGGAAGATCCAGGTCCCAACTGGAAGCTGAAG___GTCAGCAATCTGAAGATGGTCTTACGGAGCCTAGTAGAGTACTCCCAGGAT___GTCCTGGCGCATCCTGTGTCAGAAGAGCATCTCCCAGATGTGAGCCTCATTGGAGAGTTCTCAGACCCGGCAGAGCTCGGCAAGCTGCTTCAGCTGGTGCTGGGCTGTGCCATCAGTTGCGAGAAAAAGCAGG___ACCACATCCAGAGAATCATGACGCTGGAAGAATCGGTTCAGCATGTGGTGATGGAAGCCATCCAAGAG___CTCATGACCAAAGACACTCCTGACTCCCTGTCACCAGAGACGTATGGCAACTTTGACAGCCAG___TCCCGCAGGTACTATTTCCTAAGTGAGGAGGCTGAGGAGGGGGACGAATTACAGCAGCGCTGTCTGGATCTGGAGCGGCAG___CTGATGCTCCTGTCAGAGGAGAAGCAGAGCCTGGCGCAAGAGAATGCAGGGCTGCGGGAGCGGATGGGCCGGC)CTGAAGGCGAGGGTACCCCAGGTCTCACTGCCAAGAAGCTGCTGCTGCTGCAATCCCAGCTGGAGCAGTTGCAGGAGGAGAACTTCAG___GCTGGAGAGTGGCAGGGAGGATGAGCGCCTGCGCTGTGCCGAGCTGGAGAGGGAGGTTGCGGAGCTGCAGCACCGGAACCAGGCGCTGACTAGCCTGGCCCAGGAGGCACAGGCCCTGAAGGATGAGATGGATGAACTACG|TAAGGACAGAGTGAGAAAACAGCCATCTGGAAGCTATGAAGAGAACCCTCACCAGAACCCCAACATGCTGGCACCCTGATCTTGGACTTTCAGCTGCCAGAAGTGTGAGAAAATAAATTTCTGTTGTTTAAGCCACCCAGTCTATGCAATATTGTTATGATCCGAGATAACCAGGAC MSVDKAELCGSLLTWLQTFHVPSPCASPQDLSSGLAVAYVLNQIDPSWFNEAWLQGISEDPGPNWKLKVSNLKMVLRSLVEYSQDVLAHPVSEEHLPDVSLIGEFSDPAELGKLLQLVLGCAISCEKKQDHIQRIMTLEESVQHVVMEAIQELMTKDTPDSLSPETYGNFDSQSRRYYFLSEEAEEGDELQQRCLDLERQLMLLSEEKQSLAQENAGLRERMGRPEGEGTPGLTAKKLLLLQSQLEQLQEENFRLESGREDERLRCAELEREVAELQHRNQALTSLAQEAQALKDEMDELr|kdrvrkqpsgsyeenphqnpnmlap* 11BR020 ENSG00000067141.17 ENSG00000179335.18 +/+ +/+ chr15:73178427 chr15:74627352 CDS/splice-site CDS/splice-site deletion 12 14 1 100 185 high in-frame . Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%)|Protein_kinase_domain(100%) . . ENSG00000067141.17 ENSG00000179335.18 ENST00000339362.9 ENST00000345005.8 downstream upstream . ^(GGTCAGCGGCTGCGCGGCCGGCCCCCTCCCACGGGAGCCGCGCCAGGGCCCAGCAAGAGTCGGGCGGGATCGCTATTGTTTTTGGCGAGCACATAAATCCCCGGGCCGACCCACTGCGCACCCAGGTTTCCTCCCGGAGGCCTTTCGGTTTCCTCTGAGGCCCTATATAGAGGCTCCAGGCCCGGACTGTGCAGAGGTGCGCGCCCACGCCGGCCTCCCGGACCAGCCTGAGCTCGGAGCGCCTCTCGCCCTCAG___GAGGGAGGCGCCCTGGAGTCTCCCCTCCAGCGAGAGGGGCTGCGCGGGCCGGGCCGGGCCGGGCTGGGCTGGAGCAGCGGCGGCCGCGGGAGCCGAGCTTGCAGCGAGGGACCGGCTGAGGCGCGCGGGAGGGAAGGAGGCAAGGGCTCCGCGGCGCTGTCGCCGCCGCTGCCGCTCACTCTCGGGGAAGAGATGGCGGCGGAGCGGGGAGCCCGGCGACTCCTCAGCACCCCCTCCTTCTGGCTCTACTGCCTGCTGCTGCTCGGGCGCCGGGCGCCGGGCGCCGCGGCCGCCAGGAGCGGCTCCGCGCCGCAGTCCCCAG___GAGCCAGCATTCGAACGTTCACTCCATTTTATTTTCTGGTGGAGCCGGTGGATACACTCTCAGTTAGAGGCTCTTCTGTTATATTAAACTGTTCAGCATATTCTGAGCCTTCTCCAAAAATTGAATGGAAAAAAGATGGAACTTTTTTAAACTTAGTATCAGATGATCGACGCCAGCTTCTCCCGGATGGATCTTTATTTATCAGCAATGTGGTGCATTCCAAACACAATAAACCTGATGAAGGTTATTATCAGTGTGTGGCCACTGTTGAGAGTCTTGGAACTATTATCAGTAGAACAGCGAAGCTCATAGTAGCAG___GTCTTCCAAGATTTACCAGCCAACCAGAACCTTCCTCAGTTTATGCTGGGAACAATGCAATTCTGAATTGTGAAGTTAATGCAGATTTGGTCCCATTTGTGAGGTGGGAACAGAACAGACAACCCCTTCTTCTGGATGATAGAGTTATCAAACTTCCAAGTGGAATGCTGGTTATCAGCAATGCAACTGAAGGAGATGGCGGGCTTTATCGCTGCGTAGTGGAAAGTGGTGGGCCACCAAAGTATAGTGATGAAGTTGAATTGAAGGTTCTTCCAG___ATCCTGAGGTGATATCAGACTTGGTATTTTTGAAACAGCCTTCTCCCTTAGTCAGAGTCATTGGTCAGGATGTAGTGTTGCCATGTGTTGCTTCAGGACTTCCTACTCCAACCATTAAATGGATGAAAAATGAGGAGGCACTTGACACAGAAAG___CTCTGAAAGATTGGTATTGCTGGCAGGTGGTAGCCTGGAGATCAGTGATGTTACTGAGGATGATGCTGGGACTTATTTTTGTATAGCTGATAATGGAAATGAGACAATTGAAGCTCAAGCAGAGCTTACAGTGCAAG___CTCAACCTGAATT)CCTGAAGCAGCCTACTAATATATATGCTCACGAATCTATGGATATTGTATTTGAATGTGAAGTGACTGGAAAACCAACTCCAACTGTGAAGTGGGTCAAAAATGGGGATATGGTTATCCCAAGTGATTATTTTAAGATTGTA___AAGGAACATAATCTTCAAGTTTTGGGTCTGGTGAAATCAGATGAAGGGTTCTATCAGTGCATTGCTGAAAATGATGTTGGAAATGCACAAGCTGGAGCCCAACTGATAATCCTTGAACATG|TTCTGCATGAGAATCAGCTGACCCATACAGACTTGAAACCAGAGAACATCCTGTTTGTGAATTCTGAGTTTGAAACCCTCTACAATGAGCACAAG___AGCTGTGAGGAGAAGTCAGTGAAGAACACCAGCATCCGAGTGGCTGACTTTGGCAGTGCCACATTTGACCATGAGCACCACACCACCATTGTGGCCACCCGTCACTATCGCCCGCCTGAGGTGATCCTTG___AGCTG(GGCTGGGCACAGCCCTGTGACGTCTGGAGCATTGGCTGCATTCTCTTTGAGTACTACCGGGGCTTCACACTCTTCCAG___ACCCACGAAAACCGAGAGCACCTGGTGATGATGGAGAAGATCCTAGGGCCCATCCCATCACACATGATCCACCGTACCAG___GAAGCAGAAATATTTCTACAAAGGGGGCCTAGTTTGGGATGAGAACAGCTCTGACGGCCGGTATGTGAAGGAGAACTGCAAACCTCTGAAG___AGTTACATGCTCCAAGACTCCCTGGAGCACGTGCAGCTGTTTGACCTGATGAGGAGGATGTTAGAATTTGACCCTGCCCAGCGCATCACACTGGCCGAGGCCCTGCTGCACCCCTTCTTTGCTGGCCTGACCCCTGAGGAGCGGTCCTTCCACACCAGCCGCAACCCAAGCAGATGACAGGCACAGGCCACCGCATGAGGAGATGGAGGGCGGGACTGGGCCGCCCAGCCCCTTGACTCCAGCCTCGACCGCCAGGCCCCAGGCCAGAGCCACCCAATGAACAGTGCAATGTGAAGGAAGGCAGGAGCCTGCAGGGGAGCAGACTTGGTGCCCAGCTGCCAGAAAGCACAGATTTGACCCAAGCTATTTATATGTTATAAAGTTATAATAAAGTGTTTCTTACTGTTTGTAACCCCTGGTACCAGTGTGTCCATCTCCAGGCTCCTTGCCTTCCCCTTACCTGACCTTATTAATAAAGTCTTTCTTAGCAGTTCA)$ MAAERGARRLLSTPSFWLYCLLLLGRRAPGAAAARSGSAPQSPGASIRTFTPFYFLVEPVDTLSVRGSSVILNCSAYSEPSPKIEWKKDGTFLNLVSDDRRQLLPDGSLFISNVVHSKHNKPDEGYYQCVATVESLGTIISRTAKLIVAGLPRFTSQPEPSSVYAGNNAILNCEVNADLVPFVRWEQNRQPLLLDDRVIKLPSGMLVISNATEGDGGLYRCVVESGGPPKYSDEVELKVLPDPEVISDLVFLKQPSPLVRVIGQDVVLPCVASGLPTPTIKWMKNEEALDTESSERLVLLAGGSLEISDVTEDDAGTYFCIADNGNETIEAQAELTVQAQPEFLKQPTNIYAHESMDIVFECEVTGKPTPTVKWVKNGDMVIPSDYFKIVKEHNLQVLGLVKSDEGFYQCIAENDVGNAQAGAQLIILEH|vLHENQLTHTDLKPENILFVNSEFETLYNEHKSCEEKSVKNTSIRVADFGSATFDHEHHTTIVATRHYRPPEVILELGWAQPCDVWSIGCILFEYYRGFTLFQTHENREHLVMMEKILGPIPSHMIHRTRKQKYFYKGGLVWDENSSDGRYVKENCKPLKSYMLQDSLEHVQLFDLMRRMLEFDPAQRITLAEALLHPFFAGLTPEERSFHTSRNPSR* 11BR020 ENSG00000181896.12 ENSG00000140374.16 +/+ -/- chr19:19668966 chr15:76292700 CDS/splice-site CDS/splice-site translocation 25 1 0 195 941 high in-frame . |Electron_transfer_flavoprotein_FAD-binding_domain(100%),Electron_transfer_flavoprotein_domain(100%) . . ENSG00000181896.12 ENSG00000140374.16 ENST00000592502.2 ENST00000557943.6 downstream downstream duplicates(2) ^(ATTCGGGT)CCGGGTTTTAGTTCCTCGGGGAGCCCCTGGTGCCCCGGATACGGCTGATTTTGTCGTGTGGGACCTGTTCTGGCTGCTCCAGCCCCAGGAAGGACCCAGGACACCCGGAAGCCGGAAATG|GTGGCACAAGATCTCTGTAAAGTAGCAGGCATAGCAAAAGTTCTGGTGGCTCAGCATGATGTGTACAAAGGCCTA(CTTCCAG___AGGAACTGACACCATTGATTTTGGCAACTCAGAAGCAGTTCAATTACACACACATCTGTGCTGGAGCATCTGCCTTCGGAAAG___AACCTTTTGCCCAGAGTAGCAGCCAAACTTGAGGTTGCCCCGATTTCTGACATCATTGCAATCAAGTCACCTGACACATTTGTGAGAACTATTTATGCAG___GAAATGCTCTATGTACAGTGAAGTGTGATGAGAAAGTGAAAGTGTTTTCTGTCCGTGGAACATCCTTTGATGCTGCAGCAACAAGTGGCGGTAGTGCCAGTTCAGAAAAGG___CATCAAGTACTTCACCAGTGGAAATATCAGAGTGGCTTGACCAGAAATTAACAAAAAGTGATCGACCAGAGCTAACAGGTGCCAAAGTGGTGGTATCTGGTG___GTCGAGGCTTGAAGAGTGGAGAGAACTTTAAGTTGTTATATGACTTGGCAGATCAACTACATGCTGCAG___TTGGTGCTTCCCGTGCTGCTGTTGATGCTGGCTTTGTTCCCAATGACATGCAAGTTGGACAGACGGGAAAAATAGTAGCACCA___GAACTTTATATTGCTGTTGGAATATCTGGAGCCATCCAACATTTAGCTGGGATGAAAGACAGCAAG___ACAATTGTGGCAATTAATAAAGACCCAGAAGCTCCAATTTTCCAAGTGGCAGATTATGGAATAGTTGCAGATTTATTTAAG___GTAGTTCCTGAAATGACTGAGATATTGAAGAAAAAATGAATCAGGATCATGCCTTAAAAAGAAAACTTTTGTTAAAGTATTCCACTGAAATCACAGATATTTGTGGGTATTATAACAATCATTGGAAAGCATGGAGAGCTACATTTCATAATTTGAGGGAAAATTTCTAACAGATGCCAGAATGCTTGTTTATGGGATTGCTGTGTTTCCTTTTAATTATTTGTGGTTCCAAACAATTATTGTTTGAACTTTTTAAATTCTGTACTAAAATCTATAATAAAGCTTTTCCACAGCTTTAAAACTATCAGAAATATGCCTAGCCTCTAGAGAAAATTGAAGAAAAGGAGTAAAAATTTTGTTTATTTATTTATTTTTTTGCCTTTCTTGTTCATGGAGAGCTCTATGTTTTAGGAAGATTGTAAACATGATTGTCTCCACCAGCCTAATCAACCTACTAATCTCATTGTTGAAGGGCAAACTTCATAGGAGAAGGTAACTGAATTGGCAAGTGCAGAGTTAAAAAAGCACGGCTATAAAGCATGAATATTATCTTAAACATACTCCAGTCTTCAGAAGACCATAGCTAATGTGACAAAAGCAGACCTGACTTAAACCTGACCCAGCTCCATGTATTTAGTTGGCTTAAGGTAAATTTCATTTTCCGTTTAATTTTAAGGTTTTGTCAGTTTATAGGACTTTTGTCTGTAAAGGAGGGAGAGTGGAGGAGGGGCTGCTTTGAGACAGCATGGCCTCTGATGCAAGCAGATAGTTTGATGTTATTATAAACATTCAAAATCCTGTGCAGAGAATGCTCTAGCCTTTCTTTTGCCTTCTGTTGGCTTCTTTTGGGCTCTCTTAGGAAGCACCCAGGCCTGTGTAGTCACCTCTGGCACTCTCATTCTGCTGCCCAGGGCACAGCTGAGGTCCAAGAGTGTCACCAGGGCTGCAGCTGGTGTGGATGCAGGCCCAAGAGCAGAGGCTGGTGAGGCTTTGAACAGGCCTGCAGGAAGGCGTGGGTAGGTAGGTGAGTAGAACAAAGAGGGCTGCCCTCCTGAATCAGATCTGCAGAAGTAGGAGTAGTGACCTGGATCAAGCAGACAGTAGGGAAGAGAAGGGAAGTGATAAGTGATGGAGGTGGCTAGAGTGCCTTTGTGTGACCAGCCTGGGGCCCTTCCCCAGCTGACTAGTGAACCCTTTCTGATTTGTGTCACAATCAGTTGCTATAAAACACTTTTAAAAGTTGTA)$ M|VAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK* 11BR020 ENSG00000181896.12 ENSG00000140374.16 +/+ -/- chr19:19668966 chr15:76295737 CDS/splice-site CDS/splice-site translocation 0 43 0 195 480 medium in-frame . |Electron_transfer_flavoprotein_FAD-binding_domain(100%),Electron_transfer_flavoprotein_domain(100%) . . ENSG00000181896.12 ENSG00000140374.16 ENST00000592502.2 ENST00000557943.6 downstream downstream duplicates(3) ^(ATTCGGGTCCGG)GTTTTAGTTCCTCGGGGAGCCCCTGGTGCCCCGGATACGGCTGATTTTGTCGTGTGGGACCTGTTCTGGCTGCTCCAGCCCCAGGAAGGACCCAGGACACCCGGAAGCCGGAAATG|GCCTCATTGCTACGATTTCAGAGTACCCTGGTAATAGCTGAGCATGCAAATGATTCCCTAGCACCCATTACTTTAAATACCATTACTGCAGCCACACGCCTTGGAGGTGAAGTGTCCTGCTTAGTAGCTGGAACCAAATGTGACAAG___GTGGCACAAGATCTCTGTAAAGTAGCAGGCATAGCAAAAGTTCTGGTGGCTCAGCATGATGTGTACAAAGGCCTACTTCCAG___AGGAACTGACACCATTGATTTTGGCAACTCAGAAGCAGTTCAATTACACACACATCTGTGCTGGAGCATCTGCCTTCGGAAAG___AACCTTTTGCCCAGAGTAGCAGC(CAAACTTGAGGTTGCCCCGATTTCTGACATCATTGCAATCAAGTCACCTGACACATTTGTGAGAACTATTTATGCAG___GAAATGCTCTATGTACAGTGAAGTGTGATGAGAAAGTGAAAGTGTTTTCTGTCCGTGGAACATCCTTTGATGCTGCAGCAACAAGTGGCGGTAGTGCCAGTTCAGAAAAGG___CATCAAGTACTTCACCAGTGGAAATATCAGAGTGGCTTGACCAGAAATTAACAAAAAGTGATCGACCAGAGCTAACAGGTGCCAAAGTGGTGGTATCTGGTG___GTCGAGGCTTGAAGAGTGGAGAGAACTTTAAGTTGTTATATGACTTGGCAGATCAACTACATGCTGCAG___TTGGTGCTTCCCGTGCTGCTGTTGATGCTGGCTTTGTTCCCAATGACATGCAAGTTGGACAGACGGGAAAAATAGTAGCACCA___GAACTTTATATTGCTGTTGGAATATCTGGAGCCATCCAACATTTAGCTGGGATGAAAGACAGCAAG___ACAATTGTGGCAATTAATAAAGACCCAGAAGCTCCAATTTTCCAAGTGGCAGATTATGGAATAGTTGCAGATTTATTTAAG___GTAGTTCCTGAAATGACTGAGATATTGAAGAAAAAATGAATCAGGATCATGCCTTAAAAAGAAAACTTTTGTTAAAGTATTCCACTGAAATCACAGATATTTGTGGGTATTATAACAATCATTGGAAAGCATGGAGAGCTACATTTCATAATTTGAGGGAAAATTTCTAACAGATGCCAGAATGCTTGTTTATGGGATTGCTGTGTTTCCTTTTAATTATTTGTGGTTCCAAACAATTATTGTTTGAACTTTTTAAATTCTGTACTAAAATCTATAATAAAGCTTTTCCACAGCTTTAAAACTATCAGAAATATGCCTAGCCTCTAGAGAAAATTGAAGAAAAGGAGTAAAAATTTTGTTTATTTATTTATTTTTTTGCCTTTCTTGTTCATGGAGAGCTCTATGTTTTAGGAAGATTGTAAACATGATTGTCTCCACCAGCCTAATCAACCTACTAATCTCATTGTTGAAGGGCAAACTTCATAGGAGAAGGTAACTGAATTGGCAAGTGCAGAGTTAAAAAAGCACGGCTATAAAGCATGAATATTATCTTAAACATACTCCAGTCTTCAGAAGACCATAGCTAATGTGACAAAAGCAGACCTGACTTAAACCTGACCCAGCTCCATGTATTTAGTTGGCTTAAGGTAAATTTCATTTTCCGTTTAATTTTAAGGTTTTGTCAGTTTATAGGACTTTTGTCTGTAAAGGAGGGAGAGTGGAGGAGGGGCTGCTTTGAGACAGCATGGCCTCTGATGCAAGCAGATAGTTTGATGTTATTATAAACATTCAAAATCCTGTGCAGAGAATGCTCTAGCCTTTCTTTTGCCTTCTGTTGGCTTCTTTTGGGCTCTCTTAGGAAGCACCCAGGCCTGTGTAGTCACCTCTGGCACTCTCATTCTGCTGCCCAGGGCACAGCTGAGGTCCAAGAGTGTCACCAGGGCTGCAGCTGGTGTGGATGCAGGCCCAAGAGCAGAGGCTGGTGAGGCTTTGAACAGGCCTGCAGGAAGGCGTGGGTAGGTAGGTGAGTAGAACAAAGAGGGCTGCCCTCCTGAATCAGATCTGCAGAAGTAGGAGTAGTGACCTGGATCAAGCAGACAGTAGGGAAGAGAAGGGAAGTGATAAGTGATGGAGGTGGCTAGAGTGCCTTTGTGTGACCAGCCTGGGGCCCTTCCCCAGCTGACTAGTGAACCCTTTCTGATTTGTGTCACAATCAGTTGCTATAAAACACTTTTAAAAGTTGTA)$ M|ASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK* 11BR020 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 21 5 0 147 52 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGG)CATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR020 ENSG00000224689.9 ENSG00000140543.14 -/- -/- chr19:9691004 chr15:88516973 exon CDS/splice-site translocation 18 3 1 40 35 high . . . . . ENSG00000224689.9 ENSG00000140543.14 ENST00000536819.5 ENST00000268148.12 upstream downstream duplicates(1) ^(GTCAAATACAGAATGTGATGTTCCATTCCAGCCAATGGAAACCGGACGCTGCAGTAGGGTGGACACGTCAGGTTATAAATGACCCTGTTTCCTTTGTTTAGTGTACTCTAGTGGCAAAACTGCTGGCTAGTGTACCTGTTCTGCCAAAAGTAAAATGGGCTTACTGAGGAAATTAAATTTATGTTCAAGTGCTATTTCTTTATGCACCGGGGAACAAGCATTTCTAACAACCTGGTCCTACGTGGCTGAAACTGGATCCCAGAAGCCCCGTCCTTCCCGAAGCTCGTAGCGGAAGTGACATCAGCCCGCCGCCACTATCTTTTCCCGCGCTGGCTGCCCACGGTCAGTGCTGTTTCACCTTTATCTTGGTGGAGTCGACCCCGGCTGTG___GACTTCAAATAACCCTGTACAAAGAGGAATGGAGATTGCCTCTATTCACCTAGA)TTCATAAGTTGCCCTGAGGCAATCTTGGCATCAAGGAAGAGAGCATTGAGGCACAACTGACCATCAGCTTCAGAGAATGGCAGTCACTGATTTGTCCCATG___GGTTTTTTCCCAGGGAACCAATCTGCCCTTTTGAAGAAAAGACAAAGATAGGAACGATGGTGGAGGACTACCTGGCAAATTCTTATCAG___ACAAGAAGCTACAGTGGATGGAAACTCTGAGAATTGTGGAGAGGTCTTCAGTGAATGGTTTTGCCTTAAAACACACATGAGAGCTCAGAATGGAGGGAACATCTTTGAGGGTAATTGTTATGGAAAAGACATCCTCAGTGTGCACAAGGAAGCCTCTATTGGACAGGAACTTTCCAAATTTAATCCATGTGGAAAAGTCTTCACCTTAACTCCAGATCTTGCTGCACATCTTGGAATTCTCAATGCAAGACAACCATACAAAT|GTTCAAAGACACTATTATAAATGCCAAGTATGGAGGGCACACAGAGGCAGTACGCCGGCTGCTGGGTCAGCTCCCCATCAGTGCTCAGTCTTACAGCGGTAGCCCCTATCTGGATTTGTCTCTCTTCAGTTATGATGACAAGTGG(GTATCTGTCATGGAGCGGCCCAAGACTTGTGGAGATCACCCAATCAG___GTTCTATGCCCGGGACTCGGGCCTGCTCAAGTTTGAGATCCAGGCGGGGTTATTGGGCCGCCCCATCAACCACACAGTGCGACGCCTTGTTGCCTTCACCTTTCACCCTTTTGAGCCTTTCGCTATTTCTGTGCAGAGGACTAATGCTGAGTATGTTGTCAACTTCCATATGCGACACTGCTGCACGTAGGTGCCTCACCAGAGCCAGATTATCTGGTCTTCCAAGACTTTGCCACTCACTTATCTCAGTGGACTCCAAAGCAAAAGCTCCCGACTACTAGCTCTGTTAGTTCCAGCCTGCTATACCTCAGATGGGAGAGAGCCAGAGAGAGGAGTGAGGGTGGCTCAACCTAATGGAATTTTTAAATTGTATACAATACTGCTACTGATTGTTATAATATCCTCTTGCGTTTTCCCTGTGGGAATGCCCAGCATTAATTAAGTCCATTTCATTTTTGCTTTACTTTGCATTTGATTGCTGTGAAGATGAAAGCATTAGACTTTTATCCCCTTCATGTCACTTCTTCGGCATTATGGTTTGCATCTGAAAGCAGTTAAATCTTGTTTACTGATGAGAATGACATACATCCTTTCCATTTAGCTCATAAGCACGGCTATCTTTTTAAGAGAAAAATAAAGCCATGGTATTTTCATACTT)$ . 11BR020 ENSG00000224689.9 ENSG00000140543.14 -/- -/- chr19:9693694 chr15:88516973 exon/splice-site CDS/splice-site translocation 1 1 0 9 35 medium . . . . . ENSG00000224689.9 ENSG00000140543.14 ENST00000457674.7 ENST00000268148.12 upstream downstream . ^(TCATGCCTTCTTACTTTTCCACTAGGGTTTTTTCCCAGGGAACCAATCTGCCCTTTTGAAGAAAAGACAAAGATAGGAACGATGGTGGAGGACTACCTGGCAAATTCTTATCAG___GATTCAGTGACGTTTGATGATGTGGCTGTGGAGTTCACCCCAGAGGAGTGGGCTTTACTGG)ACACAACTGAGcAATGCCTCTACAGAGATGTGATGTTGGAGAACTATGTGAACCTGGCCTCTGTGG|GTTCAAAGACACTATTATAAATGCCAAGTATGGAGGGCACACAGAGGCAGTACGCCGGCTGCTGGGTCAGCTCCCCATCAGTGCTCAGTCTTACAGCGGTAGCCCCTATCTGGATTTGTCTCTCTTCAGTTATGATGACAAGTGGG(TATCTGTCATGGAGCGGCCCAAGACTTGTGGAGATCACCCAATCAG___GTTCTATGCCCGGGACTCGGGCCTGCTCAAGTTTGAGATCCAGGCGGGGTTATTGGGCCGCCCCATCAACCACACAGTGCGACGCCTTGTTGCCTTCACCTTTCACCCTTTTGAGCCTTTCGCTATTTCTGTGCAGAGGACTAATGCTGAGTATGTTGTCAACTTCCATATGCGACACTGCTGCACGTAGGTGCCTCACCAGAGCCAGATTATCTGGTCTTCCAAGACTTTGCCACTCACTTATCTCAGTGGACTCCAAAGCAAAAGCTCCCGACTACTAGCTCTGTTAGTTCCAGCCTGCTATACCTCAGATGGGAGAGAGCCAGAGAGAGGAGTGAGGGTGGCTCAACCTAATGGAATTTTTAAATTGTATACAATACTGCTACTGATTGTTATAATATCCTCTTGCGTTTTCCCTGTGGGAATGCCCAGCATTAATTAAGTCCATTTCATTTTTGCTTTACTTTGCATTTGATTGCTGTGAAGATGAAAGCATTAGACTTTTATCCCCTTCATGTCACTTCTTCGGCATTATGGTTTGCATCTGAAAGCAGTTAAATCTTGTTTACTGATGAGAATGACATACATCCTTTCCATTTAGCTCATAAGCACGGCTATCTTTTTAAGAGAAAAATAAAGCCATGGTATTTTCATACTT)$ . 11BR020 ENSG00000224689.9 ENSG00000173867.10 -/- -/- chr19:9691004 chr15:88516973 exon CDS/splice-site translocation 18 3 1 40 35 high . . . . . ENSG00000224689.9 ENSG00000173867.10 ENST00000536819.5 ENST00000649547.1 upstream downstream duplicates(1) ^(GTCAAATACAGAATGTGATGTTCCATTCCAGCCAATGGAAACCGGACGCTGCAGTAGGGTGGACACGTCAGGTTATAAATGACCCTGTTTCCTTTGTTTAGTGTACTCTAGTGGCAAAACTGCTGGCTAGTGTACCTGTTCTGCCAAAAGTAAAATGGGCTTACTGAGGAAATTAAATTTATGTTCAAGTGCTATTTCTTTATGCACCGGGGAACAAGCATTTCTAACAACCTGGTCCTACGTGGCTGAAACTGGATCCCAGAAGCCCCGTCCTTCCCGAAGCTCGTAGCGGAAGTGACATCAGCCCGCCGCCACTATCTTTTCCCGCGCTGGCTGCCCACGGTCAGTGCTGTTTCACCTTTATCTTGGTGGAGTCGACCCCGGCTGTG___GACTTCAAATAACCCTGTACAAAGAGGAATGGAGATTGCCTCTATTCACCTAGA)TTCATAAGTTGCCCTGAGGCAATCTTGGCATCAAGGAAGAGAGCATTGAGGCACAACTGACCATCAGCTTCAGAGAATGGCAGTCACTGATTTGTCCCATG___GGTTTTTTCCCAGGGAACCAATCTGCCCTTTTGAAGAAAAGACAAAGATAGGAACGATGGTGGAGGACTACCTGGCAAATTCTTATCAG___ACAAGAAGCTACAGTGGATGGAAACTCTGAGAATTGTGGAGAGGTCTTCAGTGAATGGTTTTGCCTTAAAACACACATGAGAGCTCAGAATGGAGGGAACATCTTTGAGGGTAATTGTTATGGAAAAGACATCCTCAGTGTGCACAAGGAAGCCTCTATTGGACAGGAACTTTCCAAATTTAATCCATGTGGAAAAGTCTTCACCTTAACTCCAGATCTTGCTGCACATCTTGGAATTCTCAATGCAAGACAACCATACAAAT|GTTCAAAGACACTATTATAAATGCCAAGTATGGAGGGCACACAGAGGCAGTACGCCGGCTGCTGGGTCAGCTCCCCATCAGTGCTCAGTCTTACAGCGGTAGCCCCTATCTGGATTTGTCTCTCTTCAGTTATGATGACAAGTGG(GTATCTGTCATGGAGCGGCCCAAGACTTGTGGAGATCACCCAATCAG___GTTCTATGCCCGGGACTCGGGCCTGCTCAAGTTTGAGATCCAGGCGGGGTTATTGGGCCGCCCCATCAACCACACAGTGCGACGCCTTGTTGCCTTCACCTTTCACCCTTTTGAGCCTTTCGCTATTTCTGTGCAGAGGACTAATGCTGAGTATGTTGTCAACTTCCATATGCGACACTGCTGCACGTAGGTGCCTCACCAGAGCCAGATTATCTGGTCTTCCAAGACTTTGCCACTCACTTATCTCAGTGGACTCCAAAGCAAAAGCTCCCGACTACTAGCTCTGTTAGTTCCAGCCTGCTATACCTCAGATGGGAGAGAGCCAGAGAGAGGAGTGAGGGTGGCTCAACCTAATGGAATTTTTAAATTGTATACAATACTGCTACTGATTGTTATAATATCCTCTTGCGTTTTCCCTGTGGGAATGCCCAGCATTAATTAAGTCCATTTCATTTTTGCTTTACTTTGCATTTGATTGCTGTGAAGATGAAAGCATTAGACTTTTATCCCCTTCATGTCACTTCTTCGGCATTATGGTTTGCATCTGAAAGCAGTTAAATCTTGTTTACTGATGAGAATGACATACATCCTTTCCATTTAGCTCATAAGCACGGCTATCTTTTTAAGAGAAAAATAAAGCCATGGTATTTTCATACTTAAATATATGTGGTTGGATGACTGCTTTATGTTCCTATCATACTCAATGCTTTCAAGTACTTGGGTTCCAGGAAGGACTGTGAAAGAGATGAGAGGCCATGGATGCAGCAGCTGTTCCTGGGAGAACTAAGTG___GGACAGTGGAGACAGATGAAGGAAGGGCAGAAAAAGAAAAATATACTGTGGAAGAGCACTGGAGTTGGATCAATGGGAATGTGTTGTATGACCAAGAGTTGAAGATGTTTCAAGGAGAGGCCCAGCATATACAAAGGCATGGAAGTATGAAAATG___ATTGAGATAGAGAGAAGCCTGTATTCAGACCACGAGCTTCGTGCTCTGGATGAAAACCAGCGACTGGCAAAGAAGAAAGCTGACCTTCATGATGAAGAAGATGAACAGGATATATTGCTGGCGCAAGATTTGGAAGATATGTGGGAGCAGAAATTTCTACAGTTCAAACTTGGAGCTCGCATAACAG___CTGATGAAAAGAATGACCGAACATCCCTGAACAGGAAGCTAGACAGGAACCTTGTCCTGTTAGTCAGAGAGAAGTTTGGAGACCAGGATGTTTGGATACTGCCCCAGGCAGAGTGGCAGCCTGGGGAGACCCTTCGAGGAACAGCTGAACGAACCCTGGCCACACTCTCAG___AAAACAACATGGAAGCCAAGTTCCTAGGAAATGCACCCTGTGGGCACTACACATTCAAGTTCCCCCAGGCAATGCGGACAGAGAGTAACCTCGGAGCCAAGGTGTTCTTCTTCAAAGCACTGCTATTAACTGGAGACTTTTCCCAGGCTGGGAATAAGGGCCATCATGTGTGGGTCACTAAGGATGAGCTGGGTGACTATTTGAAACCAAAATACCTGGCCCAAGTTAGGAGGTTTGTTTCAGACCTCTGATGGGCCGAGCTGCCTGTGGACGGTGCTCAGACAAGTCTGGGATTAGAGCCTCAAGGACATTGTGTGATTGCCTCACATTTGCAGGTAATATCAAGCAGCAAACTAAATTCTG)$ . 11BR020 ENSG00000224689.9 ENSG00000173867.10 -/- -/- chr19:9693694 chr15:88516973 exon/splice-site CDS/splice-site translocation 1 1 0 9 35 medium . . . . . ENSG00000224689.9 ENSG00000173867.10 ENST00000457674.7 ENST00000649547.1 upstream downstream . ^(TCATGCCTTCTTACTTTTCCACTAGGGTTTTTTCCCAGGGAACCAATCTGCCCTTTTGAAGAAAAGACAAAGATAGGAACGATGGTGGAGGACTACCTGGCAAATTCTTATCAG___GATTCAGTGACGTTTGATGATGTGGCTGTGGAGTTCACCCCAGAGGAGTGGGCTTTACTGG)ACACAACTGAGcAATGCCTCTACAGAGATGTGATGTTGGAGAACTATGTGAACCTGGCCTCTGTGG|GTTCAAAGACACTATTATAAATGCCAAGTATGGAGGGCACACAGAGGCAGTACGCCGGCTGCTGGGTCAGCTCCCCATCAGTGCTCAGTCTTACAGCGGTAGCCCCTATCTGGATTTGTCTCTCTTCAGTTATGATGACAAGTGGG(TATCTGTCATGGAGCGGCCCAAGACTTGTGGAGATCACCCAATCAG___GTTCTATGCCCGGGACTCGGGCCTGCTCAAGTTTGAGATCCAGGCGGGGTTATTGGGCCGCCCCATCAACCACACAGTGCGACGCCTTGTTGCCTTCACCTTTCACCCTTTTGAGCCTTTCGCTATTTCTGTGCAGAGGACTAATGCTGAGTATGTTGTCAACTTCCATATGCGACACTGCTGCACGTAGGTGCCTCACCAGAGCCAGATTATCTGGTCTTCCAAGACTTTGCCACTCACTTATCTCAGTGGACTCCAAAGCAAAAGCTCCCGACTACTAGCTCTGTTAGTTCCAGCCTGCTATACCTCAGATGGGAGAGAGCCAGAGAGAGGAGTGAGGGTGGCTCAACCTAATGGAATTTTTAAATTGTATACAATACTGCTACTGATTGTTATAATATCCTCTTGCGTTTTCCCTGTGGGAATGCCCAGCATTAATTAAGTCCATTTCATTTTTGCTTTACTTTGCATTTGATTGCTGTGAAGATGAAAGCATTAGACTTTTATCCCCTTCATGTCACTTCTTCGGCATTATGGTTTGCATCTGAAAGCAGTTAAATCTTGTTTACTGATGAGAATGACATACATCCTTTCCATTTAGCTCATAAGCACGGCTATCTTTTTAAGAGAAAAATAAAGCCATGGTATTTTCATACTTAAATATATGTGGTTGGATGACTGCTTTATGTTCCTATCATACTCAATGCTTTCAAGTACTTGGGTTCCAGGAAGGACTGTGAAAGAGATGAGAGGCCATGGATGCAGCAGCTGTTCCTGGGAGAACTAAGTG___GGACAGTGGAGACAGATGAAGGAAGGGCAGAAAAAGAAAAATATACTGTGGAAGAGCACTGGAGTTGGATCAATGGGAATGTGTTGTATGACCAAGAGTTGAAGATGTTTCAAGGAGAGGCCCAGCATATACAAAGGCATGGAAGTATGAAAATG___ATTGAGATAGAGAGAAGCCTGTATTCAGACCACGAGCTTCGTGCTCTGGATGAAAACCAGCGACTGGCAAAGAAGAAAGCTGACCTTCATGATGAAGAAGATGAACAGGATATATTGCTGGCGCAAGATTTGGAAGATATGTGGGAGCAGAAATTTCTACAGTTCAAACTTGGAGCTCGCATAACAG___CTGATGAAAAGAATGACCGAACATCCCTGAACAGGAAGCTAGACAGGAACCTTGTCCTGTTAGTCAGAGAGAAGTTTGGAGACCAGGATGTTTGGATACTGCCCCAGGCAGAGTGGCAGCCTGGGGAGACCCTTCGAGGAACAGCTGAACGAACCCTGGCCACACTCTCAG___AAAACAACATGGAAGCCAAGTTCCTAGGAAATGCACCCTGTGGGCACTACACATTCAAGTTCCCCCAGGCAATGCGGACAGAGAGTAACCTCGGAGCCAAGGTGTTCTTCTTCAAAGCACTGCTATTAACTGGAGACTTTTCCCAGGCTGGGAATAAGGGCCATCATGTGTGGGTCACTAAGGATGAGCTGGGTGACTATTTGAAACCAAAATACCTGGCCCAAGTTAGGAGGTTTGTTTCAGACCTCTGATGGGCCGAGCTGCCTGTGGACGGTGCTCAGACAAGTCTGGGATTAGAGCCTCAAGGACATTGTGTGATTGCCTCACATTTGCAGGTAATATCAAGCAGCAAACTAAATTCTG)$ . 11BR020 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 16 0 20 109 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),mismappers(2) CAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGG(ATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR020 ENSG00000068354.16 ENSG00000068985.5(37790),ENSG00000101951.17(95486) +/+ ./+ chrX:48545023 chrX:49733774 CDS/splice-site intergenic deletion 10 4 0 84 36 high out-of-frame . . . . ENSG00000068354.16 . ENST00000376771.9 . downstream upstream duplicates(1) ^(GGGGCGGCGGGCGTCAGTACAGTAGAGTGTGCGCCGGGGTGGGGGGCAACGGTCAGCCGTCACCCTGAGACGGGCGGCGGCGGGATGGCAACAGCCTCCGGGGCCTCGGACTTGTCTGGCTCCGGAGCGCCCCCGCCCGGTGTGGGAGCTCAGGCGGCGGCGGC)CGCTGAGGAGGAGGAGCGAGAGGTGGTGCGGGTCCGAGTCAAG___AAATGTGAGAGCTTCTTGCCGCCAGAGTTCCGCTCTTTTGCTGTAGATCCCCAGATCACCTCGCTCGACGTGTTGCAGCACATCCTCATCCGAGCCTTTGATTTGAGTGG___GAAGAAGAACTTTGGCATCAGCTACCTGGGCCGGGACCGGCTAGGACAGGAAGTTTACCTCTCACTTCTATCTGACTGGGACCTCAGCACAGCCTTTGCCACTGCCTCCAAACCTTACCTGCAATTGCGTGTAGATATTCGGCCCTCGGAGGACA|GTGAGGGTCACAACCTCTTGTGCCCAGAGCATGCTGCCAGCACACATTACTACTGCTTCCCCTTATTCTGATGGAAATGATTCCTTCTTTGCCTGCAATGTTGGTATTGACTATTTTCATAACTTCTGTGTTGATTACTTTTATGTGTCACCTAGACTGGGCTAAGGGGTTCTCAGATAGCTG MATASGASDLSGSGAPPPGVGAQAAAAAEEEEREVVRVRVKKCESFLPPEFRSFAVDPQITSLDVLQHILIRAFDLSGKKNFGISYLGRDRLGQEVYLSLLSDWDLSTAFATASKPYLQLRVDIRPSED|seghnllcpehaasthyycfplf* 11BR020 ENSG00000180182.11 ENSG00000156313.15 -/- -/+ chrX:40701165 chrX:38273437 CDS/splice-site CDS inversion/5'-5' 1 11 1 196 114 high out-of-frame . . . . ENSG00000180182.11 ENSG00000156313.15 ENST00000324817.6 . upstream upstream mismatches(1) ^(CTGTTCTGAGGCGGCCCGGCGGTAGGCGGTGGCGACTCTGCCCGCTCCCGTTTCGGCGCGGTGACCGAGCGCCCGGGAGGCTCGAGGACCGCATCGTGTGCCGTTGCGCCAAGCCCGGTCCTGCGCCGCCATGGCCCCAGTGCAGCTGGAGAACCACCAGCTGGTCCCGCCCGGAGGCGGCGGCGGGGGCAGCGGCGGACCCCCGTCAGCCCCAGCCCCTCCTCCCCCGGGAGCCGCCGTGGCGGCGGCCGCTGCAGCTGCGGCTAGCCCGGGCTACCGGCTGAGCACCCTCATTGAATTTCTGCTGCACCGGGCCTACTCGGAGCTTATGGTGTTGACGGACCT___ACTGCCAAGGAAATCTGATGTGGAAAG___GAAAATAGAAATAGTGCAGTTTGCTAGCCGGACACGCCAACTCTTCGTTCGATTATTAGCTTTAGTGAAATGGGCTAATAATGCTGGCAAAGTGGAAAAATGTGCG___ATGATTTCAAGCTTTTTAGATCAGCAAGCCATCCTGTTTGTGGACACTGCTGATCGCCTGGCCTCGTTAGCTAGAGATGCTCTGGTCCATGCACGCCTGCCTAGTTTTGCCATCCCATATGCCATTGATGTACTAACTACTGGATCTTACCCACGGCTGCCAACCTGCATTAGG___GACAAAATTATTCCTCCAGACCCAATTACCAAAATTGAAAAACAAGCCACACTCCATCAGCTGAATCAGATTCTTAGACATCGGCTTGTAACCACAGATCTTCCTCCTCAGTTAGCAAATCTTACAGTTG___CAAATGGCCGGGTGAAGTTTCGTGTTGAAGGAGAATTTGAAGCCACCTTGACTGTGATGGGAGATGACCCTGATGTTCCATGGCGTCTTCTCAAGCTAGAAATTCTAGTTGAGGATAAGGAAACAGGAG___ATGGGCGAGCTTTGGTTCATAGCATGCAAATCAGCTTCATCCATCAACTGGTGCAGTCTAGGCTCTTTGCTGATGAGAAACCTCTTCAGGATATGTACAACTGCCTAC___ATTCTTTCTGTTTATCACTTCAGTTAGAAGTGTTACATTCCCAAACTCTAATGTTAATCCGAGAACGGTGGGGAGACCTTGTGCAGGTGGAAAGGTATCATGCTGGAAAGTGCCTCTCCCTTTCAGTTTGGAA___TCAACAGGTTCTTGGGAGAAAAACTGGAACAGCATCTGTTCACAAAGTTACAATTAAAATTGATGAGAATGATGTCTCCAAGCCTTTACAGATTTTTCACGATCCTCCTTTGCCAGCTTCTGATTCCAAATTAGTAGAAAGAGCCATGAAG___ATCGACCACTTATCAATAGAAAAACTCCTGATT)GACAGTGTCCATGCAAGAGCTCATCAGAAGCTCCAAGAACTGAAGGCCATTCTTAGAGGCTTCAATGCCAATGAAAACT___CTTCCATAGAGACTGCACTCCCAGCTCTTGTTGTTCCCATCTTGGAGCCCTGTGGTAATTCAGAGTGTCTGCACATTTTTGTAGATTTACATTCTGGAATGTTTCAATTGATGCTTTATGGACTTG___ACCAGGCCACTCTGGATGACATGGAGAAGTCTGTGAATGATGATATGAAACGAATCATACCCTGGATTCAGCAACTTAA|GATTTCTAATGAACTGCTATCTGCATCATCAAGCATGTATCCTACAATTGGATCATTCAGAAATACTAGTTTTAACTAATAGGAAAAAGACAAGACCTGATGCTCTCAGTGAAACTCTATGAACCCTGAGTTGTGGGGTAATACGAAAAGAGCTCACCCCTGGAGTAGTGGACAACATCT...___TAGCCATGAATAATGCAATATTTGTATGTGAAGAAGCTGTGGTGGTTATATATAAGAACAGATAAGTCTGTATCACATATTTCATAGCTTGTTATGAGGATCATGTGACAGTAAAAATTATAGCATATATGTAAACTTATATGTAAGCTTATAATTACCC MAPVQLENHQLVPPGGGGGGSGGPPSAPAPPPPGAAVAAAAAAAASPGYRLSTLIEFLLHRAYSELMVLTDLLPRKSDVERKIEIVQFASRTRQLFVRLLALVKWANNAGKVEKCAMISSFLDQQAILFVDTADRLASLARDALVHARLPSFAIPYAIDVLTTGSYPRLPTCIRDKIIPPDPITKIEKQATLHQLNQILRHRLVTTDLPPQLANLTVANGRVKFRVEGEFEATLTVMGDDPDVPWRLLKLEILVEDKETGDGRALVHSMQISFIHQLVQSRLFADEKPLQDMYNCLHSFCLSLQLEVLHSQTLMLIRERWGDLVQVERYHAGKCLSLSVWNQQVLGRKTGTASVHKVTIKIDENDVSKPLQIFHDPPLPASDSKLVERAMKIDHLSIEKLLIDSVHARAHQKLQELKAILRGFNANENSSIETALPALVVPILEPCGNSECLHIFVDLHSGMFQLMLYGLDQATLDDMEKSVNDDMKRIIPWIQQLk|isnellsasssmyptigsfrntsfn* 11BR020 ENSG00000102158.19 ENSG00000068354.16 -/- +/+ chrX:77870808 chrX:48559158 CDS/splice-site CDS/splice-site inversion 7 6 0 387 101 high in-frame . OST3_/_OST6_family__transporter_family(100%)|Rab-GTPase-TBC_domain(100%) . . ENSG00000102158.19 ENSG00000068354.16 ENST00000358075.10 ENST00000376771.9 upstream upstream duplicates(1) ^(AGAAATCAACCTTCTTTTAGCGGGCGTGTAGCGCCAGCGCGCTGTGACGTAATGTGAGGGGTCTCCCGGCAGGGCTGAGCTGGACCAATGAGGAAAGGCAAGGGGCCGATTTGCCTGTTCTCACGCCCCACCCTCAGACCTAGCCGGAGCAAAGTTTCACTTATAGAAGGGAGAGGAGCGAACATGGCAGCGCGTTGGCGGTTTTGGTGTGTCTCTGTGACCATGGTGGTGGCGCTGCTCATCGTTTGCGACGTTCCCTCAGCCTCTGCCCAAAGAAAGAAGGAG___ATGGTGTTATCTGAAAA)GGTTAGTCAGCTGATGGAATGGACTAACAAAAGACCTGTAATAAGAATGAATGGAGACAAGTTCCGTCGCCTTGTGAAAGCCCCACCGAGAAATTACTCCGTTATCGTCATGTTCACTGCTCTCCAACTGCATAGACAGTGTGTCGTTTGCAA___GCAAGCTGATGAAGAATTCCAGATCCTGGCAAACTCCTGGCGATACTCCAGTGCATTCACCAACAGGATATTTTTTGCCATGGTGGATTTTGATGAAGGCTCTGATGTATTTCAGATG|GTGGGCCGTACCTTGTCTAAGGTCCAACAAGTGCTGAGCTGGTCGTATGGGGAAGATGTCAAGCCCTTCAAGCCACCCCTGAGCGATGCTGAGTTTCACACGTACCTGAACCACGAGGGCCAGCTCTCCCGACCCGAGGAGTTGCGCCTGCGGATCTATCATGGCGGTGTGGAGCCCTCGCTGCGAAAG___GTGGTGTGGCGGTACCTGCTGAACGTGTATCCAGATGGACTGACAGGCCGAGAGCGGATGGACTACATGAAACGCAAG(AGCCGCGAGTATGAGCAGCTCAAGAGCGAGTGGGCCCAGCGAGCGAACCCTGAGGACCTGGAATTCATCCGCAGCACGGTCCTCAAGGATGTACTGCGCACTGACCGGGCCCACCCCTACTATGCGGGGCCTGAGGATGGCCCACATCTACGGGCGCTGCACGACCTGCTCACCACCTATGCCGTTACCCACCCACAGGTGTCCTACTGCCAGGGCATGAGTGACCTTGCCTCACCCATCCTCGCTGTCATGGACCATGAGGGCCATGCCTTTGTTTGCTTTTGTGGCATCATGAAACGCCTGGCCGCCAACTTCCACCCTGACGGCCGCGCCATGGCCACCAAGTTTGCACACTTGAAGCTGTTGCTGCGACACGCTGACCCTGACTTTTATCAATACCTGCAAGAGGCAGGCGCTGATGACCTCTTCTTCTGTTACCGCTGGCTGCTGCTGGAACTCAAGCGTGAGTTCGCCTTCGACGATGCCCTCCGCATGCTTGAGGTCACTTGGAGTTCGCTGCCCCCTGATCCTCCTGAACATGAGGTAGAGCTGGTTGGACCCCCCAGCCAAGTGGCAGACGCTGGTTTTGGTGGCCACAGGGGGTGGCCCGTGCGACAGAGGCACATGCTGAGGCCTGCTGGTGGAGGAGGTAGTACCTTTGAAGATGCTGTTGACCACCTGGCCACAGCCAGTCAGGGGCCTGGTGGTGGGGGGCGTCTCCTGAGACAGGCCAGCTTGGATGGCCTCCAGCAACTCAGGGATAACATGGGCTCCAGGAGGGACCCTCTGGTCCAGCTGCCCCACCCAGCTGCCCTTATCAGCTCCAAGTCCCTCTCTGAGCCTTTATTGAACTCCCCAGACCCACTGCTCTCCTCCTTTTCCCACCCTGATTCCCCATCTTCCTCATCTCCACCATCCACCCAGGAGGCCTCTCCCACTGGTGATATGGCTGTAGGATCCCCCTTGATGCAAGAGGTAGGCTCCCCGAAAGACCCTGGAAAGTCCCTGCCACCTGTACCACCAATGGGCCTGCCCCCACCCCAGGAGTTTGGCCGGGGGAACCCATTCATGCTGTTCCTCTGCCTGGCCATCCTGCTGGAGCACCGCGACCACATCATGCGCAATGGGCTGGATTATAATGAGCTGGCCATGCACTTTGACCGCCTTGTGCGAAAACACCACCTGGGGCGCGTCCTGCGCCGGGCTAGGGCTCTCTTTGCTGATTACCTGCAGTCAGAGGTGTGGGACTCAGAGGAGGGGGCTGAGGCCACAGCCGCATCTTGATCAGGCTTTCTCAAGCCCTCCATCGGCCCCACCAGATCTCCATTCTTTGCCATGAGGGCCAACACATGAGACCCCACCTCCCTCCCTGCCTGCCAGCCCTAGACTTGTTGGAGCATAGAGCCCTTCCTCCCCAGGCCTAAGTATGTGGAGCTCTGCTTTGGCACTGCCCCGCAGAGGCCACGCCTATTTATTCTGTTTCTGTTGTTTTGTTTTTAACAACTATACTTTGCACACATGAAGGTCACTGTGGTTTGTGTGTTTCTCTGCCTCCTCCCTGGGTTTTGCTGTAGATGGAGTCCTCAGGGGCCCTTTACCTGATGGAGGGGAAATACTTCACTTGGTGGAGAGAGGCTCCAGCTTCCCCCTTGTGATGGGGAGAGTGGATGCTGACAATCAGTTCCCAAAGGTGAGCCCAGGTGGAGCACTGCTTGAGGAAGGCCTGAGTCTGTTTTTTTGGTACATCCATCGGCCTGTAAGGGTCTGTATTATGGCTGTGAATATATGTTTTCAGGACAGCCCCCTGGATGAGAGATAAGAGAGTTCCTGGCTCAAAAAAGGACAAGATTCTTTACTGAGATTGGGAAGTATGGGCTACTTAGAAACGTTGGAGCAGCCACCCCTGGCATTCCACATGTCACCATTTCTAGGATCTTGGCCTCTCTGTGAGGTTTATGCACCAATGCTGGCAGCCCTGGGCAGGGGCCTCGGCCTCCTTTTTGTTTTCCACTTCAGACAGGTACCGTGCAGATGTTAACAAGGTTTGAGCGAGGTGCATCTCACACAAGTGTGAAAGCCCAATCATCACATTGTTGAATTACAAAAGGATCTAGGGCTCCTATTCTTGTCACTTGCTTTGGAGCCAGTTTGAAAGACTGGCCTAGCCCATGCCTAGCGGCCCTAAACTGGGATTCCAGCTCACAGCACCTGTCTTAACCATTTCAGCAGTAGAAACCACTTATTTACCTTCTCCATCTCACTAATATGGACAAACAACAAGCACTGATAAAACGCAGGCCCTAATAGAATTCACTTCGTTATTTGGAGGATAATGATCAAAAAAAGGTCCTTTTTCCCACTGACATGCTCAGAGGGTGGGATTCTCTCACAGGCCAGGTGCTGTCATCCACAAAGGATGGGTGAAATAACTGGGGTCCTCAGGTCACGGTCTAGCCACACCAGCTTCTCCCAAGTACTAACCAGGCTTGACCCTGCTTAGCTTCAGAGGTCAGACAAGATCTGGCATGTTCAGGATGGTATGGCTGTAGACCAGGCTGGGTTCTGGCCAGAGCTGTTGCACTAGGCAATGCTGCCAGAGATGAGGAGGCATCAGGGCAGTCATCCCTTCTGCTGTTTGCCCCAAGAATGCCATACAAACCTGGGGATGACCCTTAAAAGTCTCCCGTCACCCCCAGTATTGGGGGGAAGCTGACTATTCCTCAGATGATAGCCCAGTCACTTGAAGAACAGGACAAGACTATTCTGTGTCTAGGGGGCTCAAGCACTGTGTGTGGGTCTAACGAATGCATTTTGTGGAAATGGGCTCAGACTCCCCAAAGGGCCATCCAACCTATGGGAGTGTCTGGCCTTCTGAGGTCCTGAAATGTCTCTTTTGTCAGTAAACAGCTAATACCCTC)$ MRKGKGPICLFSRPTLRPSRSKVSLIEGRGANMAARWRFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWTNKRPVIRMNGDKFRRLVKAPPRNYSVIVMFTALQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVFQM|VGRTLSKVQQVLSWSYGEDVKPFKPPLSDAEFHTYLNHEGQLSRPEELRLRIYHGGVEPSLRKVVWRYLLNVYPDGLTGRERMDYMKRKSREYEQLKSEWAQRANPEDLEFIRSTVLKDVLRTDRAHPYYAGPEDGPHLRALHDLLTTYAVTHPQVSYCQGMSDLASPILAVMDHEGHAFVCFCGIMKRLAANFHPDGRAMATKFAHLKLLLRHADPDFYQYLQEAGADDLFFCYRWLLLELKREFAFDDALRMLEVTWSSLPPDPPEHEVELVGPPSQVADAGFGGHRGWPVRQRHMLRPAGGGGSTFEDAVDHLATASQGPGGGGRLLRQASLDGLQQLRDNMGSRRDPLVQLPHPAALISSKSLSEPLLNSPDPLLSSFSHPDSPSSSSPPSTQEASPTGDMAVGSPLMQEVGSPKDPGKSLPPVPPMGLPPPQEFGRGNPFMLFLCLAILLEHRDHIMRNGLDYNELAMHFDRLVRKHHLGRVLRRARALFADYLQSEVWDSEEGAEATAAS* 11BR020 ENSG00000102158.19 ENSG00000068354.16 -/- +/+ chrX:77870808 chrX:48558897 CDS/splice-site CDS/splice-site inversion 4 5 0 387 66 high out-of-frame . OST3_/_OST6_family__transporter_family(100%)|Rab-GTPase-TBC_domain(100%) . . ENSG00000102158.19 ENSG00000068354.16 ENST00000358075.10 ENST00000376771.9 upstream upstream . ^(AGAAATCAACCTTCTTTTAGCGGGCGTGTAGCGCCAGCGCGCTGTGACGTAATGTGAGGGGTCTCCCGGCAGGGCTGAGCTGGACCAATGAGGAAAGGCAAGGGGCCGATTTGCCTGTTCTCACGCCCCACCCTCAGACCTAGCCGGAGCAAAGTTTCACTTATAGAAGGGAGAGGAGCGAACATGGCAGCGCGTTGGCGGTTTTGGTGTGTCTCTGTGACCATGGTGGTGGCGCTGCTCATCGTTTGCGACGTTCCCTCAGCCTCTGCCCAAAGAAAGAAGGAG___ATGGTGTTATCTGAAAAGGTTAGTCAGCTGATGGAATGGACTAACAAAAGACCTGTA)ATAAGAATGAATGGAGACAAGTTCCGTCGCCTTGTGAAAGCCCCACCGAGAAATTACTCCGTTATCGTCATGTTCACTGCTCTCCAACTGCATAGACAGTGTGTCGTTTGCAA___GCAAGCTGATGAAGAATTCCAGATCCTGGCAAACTCCTGGCGATACTCCAGTGCATTCACCAACAGGATATTTTTTGCCATGGTGGATTTTGATGAAGGCTCTGATGTATTTCAGATG|GCCCATTGCTAGAAGACTGGGACATAATCAGCCCCAAAGATGTCATTGGCTCCGACGTGTTGCTGGCTGAGAAACGGTCATCACTGACGACTGCCGCCCTGCCCTTTACACAGTCCATCCTCACTCAG___GTGGGCCGTACCTTGTCTAAGGTCCAACAAGTGCTGAGCTGGTCGTATGGGGAAGATGTCAAGC(CCTTCAAGCCACCCCTGAGCGATGCTGAGTTTCACACGTACCTGAACCACGAGGGCCAGCTCTCCCGACCCGAGGAGTTGCGCCTGCGGATCTATCATGGCGGTGTGGAGCCCTCGCTGCGAAAG___GTGGTGTGGCGGTACCTGCTGAACGTGTATCCAGATGGACTGACAGGCCGAGAGCGGATGGACTACATGAAACGCAAGAGCCGCGAGTATGAGCAGCTCAAGAGCGAGTGGGCCCAGCGAGCGAACCCTGAGGACCTGGAATTCATCCGCAGCACGGTCCTCAAGGATGTACTGCGCACTGACCGGGCCCACCCCTACTATGCGGGGCCTGAGGATGGCCCACATCTACGGGCGCTGCACGACCTGCTCACCACCTATGCCGTTACCCACCCACAGGTGTCCTACTGCCAGGGCATGAGTGACCTTGCCTCACCCATCCTCGCTGTCATGGACCATGAGGGCCATGCCTTTGTTTGCTTTTGTGGCATCATGAAACGCCTGGCCGCCAACTTCCACCCTGACGGCCGCGCCATGGCCACCAAGTTTGCACACTTGAAGCTGTTGCTGCGACACGCTGACCCTGACTTTTATCAATACCTGCAAGAGGCAGGCGCTGATGACCTCTTCTTCTGTTACCGCTGGCTGCTGCTGGAACTCAAGCGTGAGTTCGCCTTCGACGATGCCCTCCGCATGCTTGAGGTCACTTGGAGTTCGCTGCCCCCTGATCCTCCTGAACATGAGGTAGAGCTGGTTGGACCCCCCAGCCAAGTGGCAGACGCTGGTTTTGGTGGCCACAGGGGGTGGCCCGTGCGACAGAGGCACATGCTGAGGCCTGCTGGTGGAGGAGGTAGTACCTTTGAAGATGCTGTTGACCACCTGGCCACAGCCAGTCAGGGGCCTGGTGGTGGGGGGCGTCTCCTGAGACAGGCCAGCTTGGATGGCCTCCAGCAACTCAGGGATAACATGGGCTCCAGGAGGGACCCTCTGGTCCAGCTGCCCCACCCAGCTGCCCTTATCAGCTCCAAGTCCCTCTCTGAGCCTTTATTGAACTCCCCAGACCCACTGCTCTCCTCCTTTTCCCACCCTGATTCCCCATCTTCCTCATCTCCACCATCCACCCAGGAGGCCTCTCCCACTGGTGATATGGCTGTAGGATCCCCCTTGATGCAAGAGGTAGGCTCCCCGAAAGACCCTGGAAAGTCCCTGCCACCTGTACCACCAATGGGCCTGCCCCCACCCCAGGAGTTTGGCCGGGGGAACCCATTCATGCTGTTCCTCTGCCTGGCCATCCTGCTGGAGCACCGCGACCACATCATGCGCAATGGGCTGGATTATAATGAGCTGGCCATGCACTTTGACCGCCTTGTGCGAAAACACCACCTGGGGCGCGTCCTGCGCCGGGCTAGGGCTCTCTTTGCTGATTACCTGCAGTCAGAGGTGTGGGACTCAGAGGAGGGGGCTGAGGCCACAGCCGCATCTTGATCAGGCTTTCTCAAGCCCTCCATCGGCCCCACCAGATCTCCATTCTTTGCCATGAGGGCCAACACATGAGACCCCACCTCCCTCCCTGCCTGCCAGCCCTAGACTTGTTGGAGCATAGAGCCCTTCCTCCCCAGGCCTAAGTATGTGGAGCTCTGCTTTGGCACTGCCCCGCAGAGGCCACGCCTATTTATTCTGTTTCTGTTGTTTTGTTTTTAACAACTATACTTTGCACACATGAAGGTCACTGTGGTTTGTGTGTTTCTCTGCCTCCTCCCTGGGTTTTGCTGTAGATGGAGTCCTCAGGGGCCCTTTACCTGATGGAGGGGAAATACTTCACTTGGTGGAGAGAGGCTCCAGCTTCCCCCTTGTGATGGGGAGAGTGGATGCTGACAATCAGTTCCCAAAGGTGAGCCCAGGTGGAGCACTGCTTGAGGAAGGCCTGAGTCTGTTTTTTTGGTACATCCATCGGCCTGTAAGGGTCTGTATTATGGCTGTGAATATATGTTTTCAGGACAGCCCCCTGGATGAGAGATAAGAGAGTTCCTGGCTCAAAAAAGGACAAGATTCTTTACTGAGATTGGGAAGTATGGGCTACTTAGAAACGTTGGAGCAGCCACCCCTGGCATTCCACATGTCACCATTTCTAGGATCTTGGCCTCTCTGTGAGGTTTATGCACCAATGCTGGCAGCCCTGGGCAGGGGCCTCGGCCTCCTTTTTGTTTTCCACTTCAGACAGGTACCGTGCAGATGTTAACAAGGTTTGAGCGAGGTGCATCTCACACAAGTGTGAAAGCCCAATCATCACATTGTTGAATTACAAAAGGATCTAGGGCTCCTATTCTTGTCACTTGCTTTGGAGCCAGTTTGAAAGACTGGCCTAGCCCATGCCTAGCGGCCCTAAACTGGGATTCCAGCTCACAGCACCTGTCTTAACCATTTCAGCAGTAGAAACCACTTATTTACCTTCTCCATCTCACTAATATGGACAAACAACAAGCACTGATAAAACGCAGGCCCTAATAGAATTCACTTCGTTATTTGGAGGATAATGATCAAAAAAAGGTCCTTTTTCCCACTGACATGCTCAGAGGGTGGGATTCTCTCACAGGCCAGGTGCTGTCATCCACAAAGGATGGGTGAAATAACTGGGGTCCTCAGGTCACGGTCTAGCCACACCAGCTTCTCCCAAGTACTAACCAGGCTTGACCCTGCTTAGCTTCAGAGGTCAGACAAGATCTGGCATGTTCAGGATGGTATGGCTGTAGACCAGGCTGGGTTCTGGCCAGAGCTGTTGCACTAGGCAATGCTGCCAGAGATGAGGAGGCATCAGGGCAGTCATCCCTTCTGCTGTTTGCCCCAAGAATGCCATACAAACCTGGGGATGACCCTTAAAAGTCTCCCGTCACCCCCAGTATTGGGGGGAAGCTGACTATTCCTCAGATGATAGCCCAGTCACTTGAAGAACAGGACAAGACTATTCTGTGTCTAGGGGGCTCAAGCACTGTGTGTGGGTCTAACGAATGCATTTTGTGGAAATGGGCTCAGACTCCCCAAAGGGCCATCCAACCTATGGGAGTGTCTGGCCTTCTGAGGTCCTGAAATGTCTCTTTTGTCAGTAAACAGCTAATACCCTC)$ MRKGKGPICLFSRPTLRPSRSKVSLIEGRGANMAARWRFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWTNKRPVIRMNGDKFRRLVKAPPRNYSVIVMFTALQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVFQM|ahc* 11BR020 ENSG00000180182.11 ENSG00000250349.3 -/- +/+ chrX:40701165 chrX:38267506 CDS/splice-site intron inversion 10 3 0 196 31 high out-of-frame . . . . ENSG00000180182.11 ENSG00000250349.3 ENST00000324817.6 . upstream upstream duplicates(1),mismappers(1) ^(CTGTTCTGAGGCGGCCCGGCGGTAGGCGGTGGCGACTCTGCCCGCTCCCGTTTCGGCGCGGTGACCGAGCGCCCGGGAGGCTCGAGGACCGCATCGTGTGCCGTTGCGCCAAGCCCGGTCCTGCGCCGCCATGGCCCCAGTGCAGCTGGAGAACCACCAGCTGGTCCCGCCCGGAGGCGGCGGCGGGGGCAGCGGCGGACCCCCGTCAGCCCCAGCCCCTCCTCCCCCGGGAGCCGCCGTGGCGGCGGCCGCTGCAGCTGCGGCTAGCCCGGGCTACCGGCTGAGCACCCTCATTGAATTTCTGCTGCACCGGGCCTACTCGGAGCTTATGGTGTTGACGGACCT___ACTGCCAAGGAAATCTGATGTGGAAAG___GAAAATAGAAATAGTGCAGTTTGCTAGCCGGACACGCCAACTCTTCGTTCGATTATTAGCTTTAGTGAAATGGGCTAATAATGCTGGCAAAGTGGAAAAATGTGCG___ATGATTTCAAGCTTTTTAGATCAGCAAGCCATCCTGTTTGTGGACACTGCTGATCGCCTGGCCTCGTTAGCTAGAGATGCTCTGGTCCATGCACGCCTGCCTAGTTTTGCCATCCCATATGCCATTGATGTACTAACTACTGGATCTTACCCACGGCTGCCAACCTGCATTAGG___GACAAAATTATTCCTCCAGACCCAATTACCAAAATTGAAAAACAAGCCACACTCCATCAGCTGAATCAGATTCTTAGACATCGGCTTGTAACCACAGATCTTCCTCCTCAGTTAGCAAATCTTACAGTTG___CAAATGGCCGGGTGAAGTTTCGTGTTGAAGGAGAATTTGAAGCCACCTTGACTGTGATGGGAGATGACCCTGATGTTCCATGGCGTCTTCTCAAGCTAGAAATTCTAGTTGAGGATAAGGAAACAGGAG___ATGGGCGAGCTTTGGTTCATAGCATGCAAATCAGCTTCATCCATCAACTGGTGCAGTCTAGGCTCTTTGCTGATGAGAAACCTCTTCAGGATATGTACAACTGCCTAC___ATTCTTTCTGTTTATCACTTCAGTTAGAAGTGTTACATTCCCAAACTCTAATGTTAATCCGAGAACGGTGGGGAGACCTTGTGCAGGTGGAAAGGTATCATGCTGGAAAGTGCCTCTCCCTTTCAGTTTGGAA___TCAACAGGTTCTTGGGAGAAAAACTGGAACAGCATCTGTTCACAAAGTTACAATTAAAATTGATGAGAATGATGTCTCCAAGCCTTTACAGATTTTTCACGATCCTCCTTTGCCAGCTTCTGATTCCAAATTAGTA)GAAAGAGCCATGAAG___ATCGACCACTTATCAATAGAAAAACTCCTGATTGACAGTGTCCATGCAAGAGCTCATCAGAAGCTCCAAGAACTGAAGGCCATTCTTAGAGGCTTCAATGCCAATGAAAACT___CTTCCATAGAGACTGCACTCCCAGCTCTTGTTGTTCCCATCTTGGAGCCCTGTGGTAATTCAGAGTGTCTGCACATTTTTGTAGATTTACATTCTGGAATGTTTCAATTGATGCTTTATGGACTTG___ACCAGGCCACTCTGGATGACATGGAGAAGTCTGTGAATGATGATATGAAACGAATCATACCCTGGATTCAGCAACTTAA|CAAAGACGTGACATGCCGTCATATTCACTGGTCCAACCCACACTCATGAGGAAGGGATTATTGAGAGCATGTGGCACCAGCAG___GATTTCTAATGAACTGCTATCTGCATCATCAAGCATGTATCCTACAATTGGATCATTCAGAAATACTAGTTTTAACTAATAGGAAAAAGACAAGACCTGATGCTCTCAGTGAAACTCTATG MAPVQLENHQLVPPGGGGGGSGGPPSAPAPPPPGAAVAAAAAAAASPGYRLSTLIEFLLHRAYSELMVLTDLLPRKSDVERKIEIVQFASRTRQLFVRLLALVKWANNAGKVEKCAMISSFLDQQAILFVDTADRLASLARDALVHARLPSFAIPYAIDVLTTGSYPRLPTCIRDKIIPPDPITKIEKQATLHQLNQILRHRLVTTDLPPQLANLTVANGRVKFRVEGEFEATLTVMGDDPDVPWRLLKLEILVEDKETGDGRALVHSMQISFIHQLVQSRLFADEKPLQDMYNCLHSFCLSLQLEVLHSQTLMLIRERWGDLVQVERYHAGKCLSLSVWNQQVLGRKTGTASVHKVTIKIDENDVSKPLQIFHDPPLPASDSKLVERAMKIDHLSIEKLLIDSVHARAHQKLQELKAILRGFNANENSSIETALPALVVPILEPCGNSECLHIFVDLHSGMFQLMLYGLDQATLDDMEKSVNDDMKRIIPWIQQLn|kdvtcrhihwsnphs* 11BR020 ENSG00000103978.16 ENSG00000169436.17 -/- -/- chr15:42226806 chr8:138821411 CDS/splice-site CDS/splice-site translocation 11 0 1 458 68 high out-of-frame . |Collagen_triple_helix_repeat_(20_copies)(100%) . . ENSG00000103978.16 ENSG00000169436.17 ENST00000448392.5 ENST00000303045.11 upstream downstream duplicates(1) ^(AGTAGGTCCAAAGTCTCACGGCGCACAGACGACTGTCTGAGAGAGGGGCCGCTACGCCGCACAGCAAACAAGCTCCGCGACGTTTCCAGGACCCGGATAATCCCGCCCTTAGAGCAGAGCCGGAAGAAGGCGGGACGAACCGGAAGAGGGTGAAATGCTTTCGGTAGGCACTCCACGGCTGTGAAGATGGCGGCGGCTGCGTGGCTTCAGGTGTTGCCTGTCATTCTTCTGCTTCTGGGAGCTCACCCGTCACCACTGTCGTTTTTCAGTGCGGGACCGGCAACCGTAGCTGCTGCCGACCGGTCCAAATGGCACATTCCGATACCGTCG___TTGATGGAGAACCTTGTGACCTGTCTTTGAATATAACCTGGTATCTGAAAAGCGCTGATTGTTACAATGAAATCTATAACTTCAAG___GCAGAAGAAGTAGAGTTGTATTTGGAAAAACTTAAGGAAAAAAGAGGCTTGTCTGGGAAATATCAAACATCATCAAAATTGTTCCAGAACTGCAGTGAACTCTTTAAAACACAG___ACCTTTTCTGGAGATTTTATGCATCGACTGCCTCTTTTAGGAGAAAAACAGGAG___GCTAAGGAGAATGGAACAAACCTTACCTTTATTGGAGACAAAACC___GCAATGCATGAACCATTGCAAACTTGGCAAGATGCACCATACATTTTTATTGTACATATTGGCATTTCATCCTCAAAGGAATCATCAAAAGAAAATTCACTGAGTAATCTTTTTACCA___TGACTGTTGAAGTGAAGGGTCCCTATGAATACCTCACACTTGAAGACTATCCCTTGATGATT___TTTTTCATGGTGATGTGTATTGTATATGTCCTGTTTGGTGTTCTGTGGCTGGCATGGTCTGCCTGCTACTGGAGAGATCTCCTGAGAATTCAGTTTTGGATTGGTGCTGTCATCTTCCTGGGAATGCTTGAGAAAGCTGTCTTCTATGCGGAATTTCAGAATATCCGATACAAAGGAGAATCTG___TCCAGGGTGCTTTGATCCTTGCAGAGCTGCTTTCAGCAGTGAAACGCTCACTGGCTCGAACCCTGGTCATCATAGTCAGTCTGGGATATGGCATCGTCAA___GCCACGCCTTGGAGTCACTCTTCATAAGGTTGTAGTAGCAGGAGCCCTCTATCTTTTGTTCTCTGGCATGGAAGGGGTCCTCAGAGTTACTGGG___GCCCAGACTGATCTTGCTTCCTTGGCCTTTATCCCCTTGGCTTTCCTAGACACTGCCTTGTGCTGGTGG___ATATTTATTAGCCTGACTCAAACAATGAAGCTATTAAAACTTCGGA)GGAACATTGTAAAACTCTCTTTGTATCGGCATTTCACCAACACGCTTATTTTGGCAGTGGCAG___CATCCATTGTGTTTATCATCTGGACAACCATGAAGTTCAGAATAGTGACATGTCAGTCG___GACTGGCGGGAGCTGTGGGTAGACGATGCCATCTGGCGCTTGCTGTTCTCCATGATCCTCTTTGTCATCATGGTTCTCTGGCGACCATCTGCAAACAACCAGAG|GTCTCCATCCGGCTGGATGGTGAAAACAAGGCAGTCGAGTACAACGCTGTGGGTGCCATGAAAGATGCTGTCAGGGTGGTCTTCCGAGGTTCTCGGGTCAATGACCTCTTTGACCGGGACTGGCACAAGATGGCCCTGAGCATCCAGGCCCAGAACGTCTCC(CTGCACATTGACTGTGCGCTGGTGCAGACACTACCCATCGAGGAACGGGAGAACATTGACATCCAGGGCAAGACTGTGATTGGCAAGCGCCTCTACGACAGTGTGCCCATTGAC___TTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCG___TGCCAGGTGACCGTGGTGACAGAGCCTCCACCTCCACCCCCACCCCAGCGGCCTCCCACCCCAGGCAGTGAACAGATTGGGTTTTTGAAGACCATCAACTGCTCCTGCCCAGCTGGAGAGAAG___GGTGAAATGGGAGTTGCTGGCCCCATGGGGCTCCCTGGTCCAAAG___GGAGACATAGGAGCCATTGGGCCGGTTGGCGCTCCTGGACCTAAGGGAGAGAAAGGTGATGTG___GGCATAGGACCTTTTGGCCAAGGGGAAAAGGGTGAAAAG___GGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGA___GGGGAGCCAGGAGAGCTGGGAGAGCCGGGGCTGCCGGGTGAGGTCGGCATGCGG___GGGCCCCAAGGACCACCTGGACTCCCCGGACCTCCTGGACGTGTCGGAGCTCCT___GGTCTCCAAGGAGAACGAGGTGAAAAGGGAACTCGAGGAGAAAAG___GGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAG___GGCAGGCCCGGCCCTTCTGGTGTGGCAGGACCCCAGGGAGAAAAG___GGTGACGTGGGACCTGCGGGGCCACCTGGTGTACCAGGCTCAGTG___GTGCAGCAAGAGGGCTTGAAAGGGGAACAG___GGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGG___GGTCCAATAGGCCCAGAAGGCAGGGATGGACCTCCTGGTTTGCAAGGTCTCCGA___GGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAG___GGCCCTCCAGGACCCCCTGGTGTCCCAGGCCCCCCTGGACCGGGAGGTTCTCCG___GGTTTGCCTGGAGAGATCGGCTTCCCGGGAAAGCCTGGACCTCCTGGGCCCACG___GGACCCCCTGGAAAGGACGGGCCAAATGGACCACCAGGTCCGCCAGGAACCAAG___GGAGAACCAGGAGAAAGAGGGGAAGATGGTCTGCCTGGAAAACCAGGCCTTCGG___GGAGAAATTGGGGAGCAGGGCCTGGCAGGCCGACCTGGAGAGAAG___GGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAG___GGAGAAAAAGGTGAACTGGGACTTCCAGGACTGAAAGGTGACCGAGGTGAAAAG___GGTGAAGCTGGTCCTGCAGGCCCTCCCGGGTTACCTGGAACT___ACATCCCTGTTCACACCACATCCACGGATGCCC___GGAGAACAAGGGCCCAAAGGAGAGAAGGGCGATCCAGGCCTGCCTGGGGAACCG___GGACTGCAGGGCCGTCCTGGAGAATTGGGGCCTCAGGGACCCACTGGACCACCG___GGTGCCAAGGGACAGGAAGGTGCACATGGGGCTCCTGGAGCAGCTGGAAACCCC___GGTGCTCCCGGACATGTCGGTGCCCCCGGTCCCAGTGGCCCTCCAGGAAGTGTG___GGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAG___GGTGCAGCGGGGGAAGAAGGCAGCCCAGGGCCAGTTGGTCCCAGGGGAGATCCTGGTGCTCCTGGGCTCCCTGGGCCACCCGGAAAAGGGAAGGATGGAGAGCCG___GGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAG___GCTGCTTGCGGAAAAGTCAGAGGGTCAGAAAACTGTGCACTGGGAGGGCAATGTGTTAAG___GGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCT___GGCCCTTCCGGACCACCAGGAGACAAAGGATCCCCG___GGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGAC___GGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCG___GGCCTCTCTTCACTACTGTCTCCAGGGGACATAAATCTCTTGGCTAAG___GATGTGTGCAATGACTGCCCTCCTGGCCCCCCAGGCCTCCCTGGTCTACCAGGTTTTAAAGGGGACAAAGGTGTCCCAGGAAAGCCAGGGAGAGAAGGCACAGAAGGGAAAAAG___GGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAG___GGAAGTCAAGGAGAACGTGGTGCAGATGGTGAGGTTGGGCAGAAAGGTGATCAG___GGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCA___GGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCT___GGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCA___GGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCG___GGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCT___GGCTTCAAGGGACACACAGGCGATTCTGGTGCACCCGGTCCCCGG___GGAGAGTCTGGTGCCATGGGGCTTCCTGGTCAGGAAGGGTTACCAGGAAAAGAT___GGTGACACTGGACCCACTGGGCCACAGGGTCCCCAAGGACCAAGGGGCCCACCG___GGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCT___GGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCG___GGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAG___GGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGG___GGAGATCCTGGGATCAAAGGTGACAAAGGACCTCCTGGTGGAAAAGGCCAGCCTGGGGACCCTGGAATCCCAGGCCACAAAGGCCACACAGGCCTGATGGGTCCCCAAGGACTACCTGGGGAGAATGGACCAGTTGGACCCCCAGGGCCTCCAGGCCAGCCGGGATTTCCAGGACTGAGG___GGGGAGTCTCCATCCATGGAAACCCTGCGTCGGCTTATTCAAGAAGAGCTGGGGAAGCAGCTTGAAA___CCAGACTCGCCTACCTCCTGGCCCAGATGCCCCCGGCGTACATGAAGTCATCTCAAGGCAGACCTGGGCCCCCAGGGCCCCCTGGAAAAGATGGGCTTCCAGGCCGGGCCGGCCCCATGGGGGAGCCAGGTCGTCCTGGGCAGGGGGGTCTGGAAGGACCCTCTGGACCCATAGGTCCCAAAG___GTGAGCGAGGAGCCAAAGGTGACCCAGGTGCACCTGGAGTTGGCCTCCGAGGCGAGATGGGACCCCCTGGAATCCCAG___GTCAACCCGGGGAACCTGGCTATGCTAAAGATGGACTTCCTGGGATCCCTGGCCCTCAAGGGGAGACAGGACCAGCTGGACATCCTGGCCTCCCAGGACCTCCCGGTCCCCCAGGCCAATGTGACCCTTCCCAGTGTGCCTACTTCGCCAGCCTTGCTGCCCGGCCGGGTAATGTGAAGGGTCCCTAAAGGACTCTGGAAAGCCAGAAGACTGCAGTGGATTTCTGAAACTTGAACTCAGAGCCCAGTGGGAAGCCAGAGGTCTTGAAAGACTTCAGCCATGTGTTCCTTTTTTTTTTCTTTCTTTTATCGTTTGCTTTTTGTTTTATTTTCTTGAGAGACCTCAAAATTATTAAATCCAACAGACGCTGCCGGTCGGTCAGATTATTATTAATATTATTGTTGTTGTTAATTATTATTATTATTTCATATGCTGATGCTTTGTGAGTTCTTTTCCACTCCTTTAAAGTTGGGAAAACTTGATTCGTGGGGCAGGAGATTGTTTCTTCATTCTTCTGACAGCCCCCATCTGACGCGTAACTGCCCATTTTAAGGAAACTCTTGGTGCTACAAAACCCTGACCAGACACTTGGCAAATTTACCTCTTTCTTCAAAAGAAAAACTTTAAGAAAATGAGCCAATGGGCTTCATTCTCAGTCATGCCCGGAGATCACCCAGGAGAAATAATACAAACACCACCACTGTCCAGAGAGAGTAAAGAAGCAGAAAGAGAAAGAATTTGCAACCATGAGGAATGTTCCCACCTCCCGACGGGACGTGCATTTGGAAAACACAGAATCAGCCCTCAGGGTGCACTCCAGCCACCTCAGTGCTCTAAGCTCACAGAAGTGAAATAATGTCTGTGGGTTGGCAATGGCTTTGTGGGATCATATGTCTTGGCCAAAGATGGGAAAACCTATGTTGAAGAGGCAGCCCTTGAGTGTTAATTTGTCTTCTAAACTGTGTAAGGCCCCTTCAAGTTCCTCTTGTTGGTTTCAATTATATTAATTATAAAACAAGTGGATGTGGTGACCATCCACTTGTGTTTCCCTAATGATGGGCAGTTGGCCAGGGCACTGACCAGAGCTGGGAAATTTGTATCTCCAAGGCGGCTCTGTCTCTGAAATAAATGGCATCAAGTGCATGTGTGTATGCGACATGCCCTGCCTGAACAGGTGCTCAATAAATCCAAGTTTCCTTCTCTTGA)$ MAHSDTVVDGEPCDLSLNITWYLKSADCYNEIYNFKAEEVELYLEKLKEKRGLSGKYQTSSKLFQNCSELFKTQTFSGDFMHRLPLLGEKQEAKENGTNLTFIGDKTAMHEPLQTWQDAPYIFIVHIGISSSKESSKENSLSNLFTMTVEVKGPYEYLTLEDYPLMIFFMVMCIVYVLFGVLWLAWSACYWRDLLRIQFWIGAVIFLGMLEKAVFYAEFQNIRYKGESVQGALILAELLSAVKRSLARTLVIIVSLGYGIVKPRLGVTLHKVVVAGALYLLFSGMEGVLRVTGAQTDLASLAFIPLAFLDTALCWWIFISLTQTMKLLKLRRNIVKLSLYRHFTNTLILAVAASIVFIIWTTMKFRIVTCQSDWRELWVDDAIWRLLFSMILFVIMVLWRPSANNQr|spsgwmvktrqssttlwvp* 11BR020 ENSG00000103978.16 ENSG00000169436.17 -/- -/- chr15:42227711 chr8:138821411 CDS/splice-site CDS/splice-site translocation 7 5 0 412 68 high in-frame . |Collagen_triple_helix_repeat_(20_copies)(100%) . . ENSG00000103978.16 ENSG00000169436.17 ENST00000448392.5 ENST00000303045.11 upstream downstream . ^(AGTAGGTCCAAAGTCTCACGGCGCACAGACGACTGTCTGAGAGAGGGGCCGCTACGCCGCACAGCAAACAAGCTCCGCGACGTTTCCAGGACCCGGATAATCCCGCCCTTAGAGCAGAGCCGGAAGAAGGCGGGACGAACCGGAAGAGGGTGAAATGCTTTCGGTAGGCACTCCACGGCTGTGAAGATGGCGGCGGCTGCGTGGCTTCAGGTGTTGCCTGTCATTCTTCTGCTTCTGGGAGCTCACCCGTCACCACTGTCGTTTTTCAGTGCGGGACCGGCAACCGTAGCTGCTGCCGACCGGTCCAAATGGCACATTCCGATACCGTCG___TTGATGGAGAACCTTGTGACCTGTCTTTGAATATAACCTGGTATCTGAAAAGCGCTGATTGTTACAATGAAATCTATAACTTCAAG___GCAGAAGAAGTAGAGTTGTATTTGGAAAAACTTAAGGAAAAAAGAGGCTTGTCTGGGAAATATCAAACATCATCAAAATTGTTCCAGAACTGCAGTGAACTCTTTAAAACACAG___ACCTTTTCTGGAGATTTTATGCATCGACTGCCTCTTTTAGGAGAAAAACAGGAG___GCTAAGGAGAATGGAACAAACCTTACCTTTATTGGAGACAAAACC___GCAATGCATGAACCATTGCAAACTTGGCAAGATGCACCATACATTTTTATTGTACATATTGGCATTTCATCCTCAAAGGAATCATCAAAAGAAAATTCACTGAGTAATCTTTTTACCA___TGACTGTTGAAGTGAAGGGTCCCTATGAATACCTCACACTTGAAGACTATCCCTTGATGATT___TTTTTCATGGTGATGTGTATTGTATATGTCCTGTTTGGTGTTCTGTGGCTGGCATGGTCTGCCTGCTACTGGAGAGATCTCCTGAGAATTCAGTTTTGGATTGGTGCTGTCATCTTCCTGGGAATGCTTGAGAAAGCTGTCTTCTATGCGGAATTTCAGAATATCCGATACAAAGGAGAATCTG___TCCAGGGTGCTTTGATCCTTGCAGAGCTGCTTTCAGCAGTGAAACGCTCACTGGCTCGAACCCTGGTCATCATAGTCAGTCTGGGATATGGCATCGTCAA___GCCACGCCTTGGAGTCACTCTTCATAAGGTTGTAGTAGCAGGAGCCCTCTATCTTTTGTTCTCTGGCATGGAAGGGGTCCTCAGAGTTACTGGG___GCCCAGACTGATCTTGCTTCCTTGGCCTTTATCC)CCTTGGCTTTCCTAGACACTGCCTTGTGCTGGTGG___ATATTTATTAGCCTGACTCAAACAATGAAGCTATTAAAACTTCGGAGGAACATTGTAAAACTCTCTTTGTATCGGCATTTCACCAACACGCTTATTTTGGCAGTGGCAG___CATCCATTGTGTTTATCATCTGGACAACCATGAAGTTCAGAATAGTGACATGTCAGTCG|GTCTCCATCCGGCTGGATGGTGAAAACAAGGCAGTCGAGTACAACGCTGTGGGTGCCATGAAAGATGCTGTCAGGGTGGTCTTCCGAGGTTCTCGGGTCAATGACCTCTTTGACCGGGACTGGCACAAGATGGCCCTGAGCATCCAGGCCCAGAACGTCTCCCTGCACATTGACTGTGCGCTGGTGCAGACACTACCCATCGAGGAACGGGAGAACATTGACATCCAGGGCAAGACTGTGATTGGCAAGCGCCTCTACGACAGTGTGCCCATTGAC(___TTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCG___TGCCAGGTGACCGTGGTGACAGAGCCTCCACCTCCACCCCCACCCCAGCGGCCTCCCACCCCAGGCAGTGAACAGATTGGGTTTTTGAAGACCATCAACTGCTCCTGCCCAGCTGGAGAGAAG___GGTGAAATGGGAGTTGCTGGCCCCATGGGGCTCCCTGGTCCAAAG___GGAGACATAGGAGCCATTGGGCCGGTTGGCGCTCCTGGACCTAAGGGAGAGAAAGGTGATGTG___GGCATAGGACCTTTTGGCCAAGGGGAAAAGGGTGAAAAG___GGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGA___GGGGAGCCAGGAGAGCTGGGAGAGCCGGGGCTGCCGGGTGAGGTCGGCATGCGG___GGGCCCCAAGGACCACCTGGACTCCCCGGACCTCCTGGACGTGTCGGAGCTCCT___GGTCTCCAAGGAGAACGAGGTGAAAAGGGAACTCGAGGAGAAAAG___GGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAG___GGCAGGCCCGGCCCTTCTGGTGTGGCAGGACCCCAGGGAGAAAAG___GGTGACGTGGGACCTGCGGGGCCACCTGGTGTACCAGGCTCAGTG___GTGCAGCAAGAGGGCTTGAAAGGGGAACAG___GGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGG___GGTCCAATAGGCCCAGAAGGCAGGGATGGACCTCCTGGTTTGCAAGGTCTCCGA___GGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAG___GGCCCTCCAGGACCCCCTGGTGTCCCAGGCCCCCCTGGACCGGGAGGTTCTCCG___GGTTTGCCTGGAGAGATCGGCTTCCCGGGAAAGCCTGGACCTCCTGGGCCCACG___GGACCCCCTGGAAAGGACGGGCCAAATGGACCACCAGGTCCGCCAGGAACCAAG___GGAGAACCAGGAGAAAGAGGGGAAGATGGTCTGCCTGGAAAACCAGGCCTTCGG___GGAGAAATTGGGGAGCAGGGCCTGGCAGGCCGACCTGGAGAGAAG___GGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAG___GGAGAAAAAGGTGAACTGGGACTTCCAGGACTGAAAGGTGACCGAGGTGAAAAG___GGTGAAGCTGGTCCTGCAGGCCCTCCCGGGTTACCTGGAACT___ACATCCCTGTTCACACCACATCCACGGATGCCC___GGAGAACAAGGGCCCAAAGGAGAGAAGGGCGATCCAGGCCTGCCTGGGGAACCG___GGACTGCAGGGCCGTCCTGGAGAATTGGGGCCTCAGGGACCCACTGGACCACCG___GGTGCCAAGGGACAGGAAGGTGCACATGGGGCTCCTGGAGCAGCTGGAAACCCC___GGTGCTCCCGGACATGTCGGTGCCCCCGGTCCCAGTGGCCCTCCAGGAAGTGTG___GGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAG___GGTGCAGCGGGGGAAGAAGGCAGCCCAGGGCCAGTTGGTCCCAGGGGAGATCCTGGTGCTCCTGGGCTCCCTGGGCCACCCGGAAAAGGGAAGGATGGAGAGCCG___GGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAG___GCTGCTTGCGGAAAAGTCAGAGGGTCAGAAAACTGTGCACTGGGAGGGCAATGTGTTAAG___GGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCT___GGCCCTTCCGGACCACCAGGAGACAAAGGATCCCCG___GGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGAC___GGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCG___GGCCTCTCTTCACTACTGTCTCCAGGGGACATAAATCTCTTGGCTAAG___GATGTGTGCAATGACTGCCCTCCTGGCCCCCCAGGCCTCCCTGGTCTACCAGGTTTTAAAGGGGACAAAGGTGTCCCAGGAAAGCCAGGGAGAGAAGGCACAGAAGGGAAAAAG___GGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAG___GGAAGTCAAGGAGAACGTGGTGCAGATGGTGAGGTTGGGCAGAAAGGTGATCAG___GGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCA___GGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCT___GGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCA___GGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCG___GGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCT___GGCTTCAAGGGACACACAGGCGATTCTGGTGCACCCGGTCCCCGG___GGAGAGTCTGGTGCCATGGGGCTTCCTGGTCAGGAAGGGTTACCAGGAAAAGAT___GGTGACACTGGACCCACTGGGCCACAGGGTCCCCAAGGACCAAGGGGCCCACCG___GGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCT___GGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCG___GGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAG___GGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGG___GGAGATCCTGGGATCAAAGGTGACAAAGGACCTCCTGGTGGAAAAGGCCAGCCTGGGGACCCTGGAATCCCAGGCCACAAAGGCCACACAGGCCTGATGGGTCCCCAAGGACTACCTGGGGAGAATGGACCAGTTGGACCCCCAGGGCCTCCAGGCCAGCCGGGATTTCCAGGACTGAGG___GGGGAGTCTCCATCCATGGAAACCCTGCGTCGGCTTATTCAAGAAGAGCTGGGGAAGCAGCTTGAAA___CCAGACTCGCCTACCTCCTGGCCCAGATGCCCCCGGCGTACATGAAGTCATCTCAAGGCAGACCTGGGCCCCCAGGGCCCCCTGGAAAAGATGGGCTTCCAGGCCGGGCCGGCCCCATGGGGGAGCCAGGTCGTCCTGGGCAGGGGGGTCTGGAAGGACCCTCTGGACCCATAGGTCCCAAAG___GTGAGCGAGGAGCCAAAGGTGACCCAGGTGCACCTGGAGTTGGCCTCCGAGGCGAGATGGGACCCCCTGGAATCCCAG___GTCAACCCGGGGAACCTGGCTATGCTAAAGATGGACTTCCTGGGATCCCTGGCCCTCAAGGGGAGACAGGACCAGCTGGACATCCTGGCCTCCCAGGACCTCCCGGTCCCCCAGGCCAATGTGACCCTTCCCAGTGTGCCTACTTCGCCAGCCTTGCTGCCCGGCCGGGTAATGTGAAGGGTCCCTAAAGGACTCTGGAAAGCCAGAAGACTGCAGTGGATTTCTGAAACTTGAACTCAGAGCCCAGTGGGAAGCCAGAGGTCTTGAAAGACTTCAGCCATGTGTTCCTTTTTTTTTTCTTTCTTTTATCGTTTGCTTTTTGTTTTATTTTCTTGAGAGACCTCAAAATTATTAAATCCAACAGACGCTGCCGGTCGGTCAGATTATTATTAATATTATTGTTGTTGTTAATTATTATTATTATTTCATATGCTGATGCTTTGTGAGTTCTTTTCCACTCCTTTAAAGTTGGGAAAACTTGATTCGTGGGGCAGGAGATTGTTTCTTCATTCTTCTGACAGCCCCCATCTGACGCGTAACTGCCCATTTTAAGGAAACTCTTGGTGCTACAAAACCCTGACCAGACACTTGGCAAATTTACCTCTTTCTTCAAAAGAAAAACTTTAAGAAAATGAGCCAATGGGCTTCATTCTCAGTCATGCCCGGAGATCACCCAGGAGAAATAATACAAACACCACCACTGTCCAGAGAGAGTAAAGAAGCAGAAAGAGAAAGAATTTGCAACCATGAGGAATGTTCCCACCTCCCGACGGGACGTGCATTTGGAAAACACAGAATCAGCCCTCAGGGTGCACTCCAGCCACCTCAGTGCTCTAAGCTCACAGAAGTGAAATAATGTCTGTGGGTTGGCAATGGCTTTGTGGGATCATATGTCTTGGCCAAAGATGGGAAAACCTATGTTGAAGAGGCAGCCCTTGAGTGTTAATTTGTCTTCTAAACTGTGTAAGGCCCCTTCAAGTTCCTCTTGTTGGTTTCAATTATATTAATTATAAAACAAGTGGATGTGGTGACCATCCACTTGTGTTTCCCTAATGATGGGCAGTTGGCCAGGGCACTGACCAGAGCTGGGAAATTTGTATCTCCAAGGCGGCTCTGTCTCTGAAATAAATGGCATCAAGTGCATGTGTGTATGCGACATGCCCTGCCTGAACAGGTGCTCAATAAATCCAAGTTTCCTTCTCTTGA)$ MAHSDTVVDGEPCDLSLNITWYLKSADCYNEIYNFKAEEVELYLEKLKEKRGLSGKYQTSSKLFQNCSELFKTQTFSGDFMHRLPLLGEKQEAKENGTNLTFIGDKTAMHEPLQTWQDAPYIFIVHIGISSSKESSKENSLSNLFTMTVEVKGPYEYLTLEDYPLMIFFMVMCIVYVLFGVLWLAWSACYWRDLLRIQFWIGAVIFLGMLEKAVFYAEFQNIRYKGESVQGALILAELLSAVKRSLARTLVIIVSLGYGIVKPRLGVTLHKVVVAGALYLLFSGMEGVLRVTGAQTDLASLAFIPLAFLDTALCWWIFISLTQTMKLLKLRRNIVKLSLYRHFTNTLILAVAASIVFIIWTTMKFRIVTCQS|VSIRLDGENKAVEYNAVGAMKDAVRVVFRGSRVNDLFDRDWHKMALSIQAQNVSLHIDCALVQTLPIEERENIDIQGKTVIGKRLYDSVPIDFDLQRIVIYCDSRHAELETCCDIPSGPCQVTVVTEPPPPPPPQRPPTPGSEQIGFLKTINCSCPAGEKGEMGVAGPMGLPGPKGDIGAIGPVGAPGPKGEKGDVGIGPFGQGEKGEKGSLGLPGPPGRDGSKGMRGEPGELGEPGLPGEVGMRGPQGPPGLPGPPGRVGAPGLQGERGEKGTRGEKGERGLDGFPGKPGDTGQQGRPGPSGVAGPQGEKGDVGPAGPPGVPGSVVQQEGLKGEQGAPGPRGHQGAPGPPGARGPIGPEGRDGPPGLQGLRGKKGDMGPPGIPGLLGLQGPPGPPGVPGPPGPGGSPGLPGEIGFPGKPGPPGPTGPPGKDGPNGPPGPPGTKGEPGERGEDGLPGKPGLRGEIGEQGLAGRPGEKGEAGLPGAPGFPGVRGEKGDQGEKGELGLPGLKGDRGEKGEAGPAGPPGLPGTTSLFTPHPRMPGEQGPKGEKGDPGLPGEPGLQGRPGELGPQGPTGPPGAKGQEGAHGAPGAAGNPGAPGHVGAPGPSGPPGSVGAPGLRGTPGKDGERGEKGAAGEEGSPGPVGPRGDPGAPGLPGPPGKGKDGEPGLRGSPGLPGPLGTKAACGKVRGSENCALGGQCVKGDRGAPGIPGSPGSRGDPGIGVAGPPGPSGPPGDKGSPGSRGLPGFPGPQGPAGRDGAPGNPGERGPPGKPGLSSLLSPGDINLLAKDVCNDCPPGPPGLPGLPGFKGDKGVPGKPGREGTEGKKGEAGPPGLPGPPGIAGPQGSQGERGADGEVGQKGDQGHPGVPGFMGPPGNPGPPGADGIAGAAGPPGIQGSPGKEGPPGPQGPSGLPGIPGEEGKEGRDGKPGPPGEPGKAGEPGLPGPEGARGPPGFKGHTGDSGAPGPRGESGAMGLPGQEGLPGKDGDTGPTGPQGPQGPRGPPGKNGSPGSPGEPGPSGTPGQKGSKGENGSPGLPGFLGPRGPPGEPGEKGVPGKEGVPGKPGEPGFKGERGDPGIKGDKGPPGGKGQPGDPGIPGHKGHTGLMGPQGLPGENGPVGPPGPPGQPGFPGLRGESPSMETLRRLIQEELGKQLETRLAYLLAQMPPAYMKSSQGRPGPPGPPGKDGLPGRAGPMGEPGRPGQGGLEGPSGPIGPKGERGAKGDPGAPGVGLRGEMGPPGIPGQPGEPGYAKDGLPGIPGPQGETGPAGHPGLPGPPGPPGQCDPSQCAYFASLAARPGNVKGP* 11BR020 ENSG00000197142.10 ENSG00000228683.1(209298),ENSG00000224596.8(37008) +/+ ./+ chr10:112376448 chr10:78906320 CDS/splice-site intergenic duplication 6 5 0 96 31 high out-of-frame . . . . ENSG00000197142.10 . ENST00000356116.5 . downstream upstream . ^(TAAAACCAGGAAGTGAAGTCCCCGAGCACGTTAGAAAGCCTGACATGG)CCTGACTCGGGACAGCTCAGAGCAGGGCAGAACTGGGGACACTCTGGGCCGGCCTTCTGCCTGCATGGACGCTCTGAAGCCACCCTGTCTCTGGAGGAACCACGAGCGAGGGAAGAAGGACAGGGACTCGTGTGGCAGGAAGAACTCAGAGCCGGGAAGCCCCCATTCACTAGAAGCACTGAGAGATGCGGCCCCCTCGCAGG|ATGCCTCTTGGGAAACAGAGACCACCACCACCCATCAGCACCCCTGCCAGCAACCTGGAGTCATCAGTGGCTTTCAAAACACCTTTACCCCTAAGCCAGGTTCTGGACCAAGTCCCAGGAAAGCCACCTCCAATGGGCCTTACTTTCTGAGCATCCTGAC MDALKPPCLWRNHERGKKDRDSCGRKNSEPGSPHSLEALRDAAPSQ|daswetetttthqhpcqqpgvisgfqntftpkpgsgpsprkatsngpyflsil 11BR020 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 3 8 0 21 16 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___)GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR020 ENSG00000230590.11 ENSG00000078589.13(108364),ENSG00000232168.2(12845) -/- ./- chrX:74292169 chrX:79072091 exon/splice-site intergenic duplication 0 9 1 59 84 high . . . . . ENSG00000230590.11 . ENST00000657327.1 . upstream downstream mismappers(23) ^GCAGGCCTTGCAGAGAACTACCTTTTTAGCTGAGTGAAGGGATCAACCTGAGTTGGAGTTCTCCTATGCTGTGGCCAGATCCACTAGAAATTAACCCAGAATCTTAGCCTCTCAGTGGCCTATCG|GTCTGCTGCAATTTGTTGGAGGTCCACTCCAGACCCTGTTTGCCTGGGTATCACCAATGGAGGCTGCAGAACAGCAAAGATTGCTTCCTGCTCCTTCCTCTGGAAACTTTGTCTAACATGATT___GCTGAAGTGCAGTCAGTGACACAATCTCAGCTCACTGCAACCTCCATCTCCCGAGTTCAAGTGATTCTCCTGCCTCGACCTCCCAAGTAGCTGG . 11BR020 ENSG00000259494.2 ENSG00000140543.14 -/- -/+ chr15:88464703 chr15:88523473 CDS/splice-site intron inversion/5'-5' 6 2 2 145 10 high out-of-frame . 39S_mitochondrial_ribosomal_protein_L46_(100%)| . . ENSG00000259494.2 ENSG00000140543.14 ENST00000312475.5 . upstream upstream . ^(GAGAACGAAAGATGGCGGCGCCCGTAAGGCGGACGCTGTTAGGGGTGGCGGGGGGTTGGCGGCGGTTCGAGAGGCTCTGGGCCGGCAGTCTAAGCTCTCGCAGCCTGGCTCTTGCAGCCGCACCCTCAAGCAACGGATCCCCATGGCGCTTGTTGGGCGCGTTGTGCCTGCAGCGGCCACCTGTAGTCTCCAAGCCGTTGACCCCATTGCAGGAAGAGATGGCGTCTCTACTGCAGCAG___ATTGAGATAGAGAGAAGCCTGTATTCAGACCACGAGCTTCGTGCTCTGGATGAAAACCAGCGACTGGCAAAGAAGAAAGCTGACCTTCATGATGAAGAAGATGAA)CAGGATATATTGCTGGCGCAAGATTTGGAAGATATGTGGGAGCAGAAATTTCTACAGTTCAAACTTGGAGCTCGCATAACAG___AAGCTGATGAAAAGAATGACCGAACATCCCTGAACAGGAAGCTAGACAGGAACCTTGTCCTGTTAGTCAGAGAGAAGTTTGGAGACCAGGATGTTTGGATACTGCCCCAGGCAGAGTGGCAGCCTGGGGAGACCCTTCGAGGAACAGCTGAACGAACCCTGGCCACACTCTCAG|TCTCCCTCTGATGCCAAGCCGAGGCTGAACTGTACTGCCGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGTCTACCGAGTGCCTGGGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTTGTATTTTTTGGCAGAGACGGGGTTTTGCTGTGTTGGCCGGGCTGGTCTCCAGC MAAPVRRTLLGVAGGWRRFERLWAGSLSSRSLALAAAPSSNGSPWRLLGALCLQRPPVVSKPLTPLQEEMASLLQQIEIERSLYSDHELRALDENQRLAKKKADLHDEEDEQDILLAQDLEDMWEQKFLQFKLGARITEADEKNDRTSLNRKLDRNLVLLVREKFGDQDVWILPQAEWQPGETLRGTAERTLATLS|vsl* 11BR020 ENSG00000140612.14 ENSG00000016082.15 -/- +/- chr15:84716025 chr5:51384012 CDS/splice-site intron translocation/5'-5' 3 6 0 259 8 high out-of-frame . . . . ENSG00000140612.14 ENSG00000016082.15 ENST00000559729.5 . upstream downstream duplicates(1) ^(ACAGAGGCCCGCCTTCCGAAGGTGGCAGAGCAGCCTCCCCAACTAAGCCTGGGTCGCCGCCTCGGTGAAGGGCCGCGGGGCCGAGCGCGGGAAGTGGCGTCCAGTCGGTTTTTGGCAGGCGAGAGCCAGAGCGTGAGAACCCTCCCACGGCGAGGCCAAGCCCTGAGACTGGACTAGCAAGGTCGTGAGTCTCTCTGTCAGCTCTCCGCAGCGAAGGGGCGCGGGGGGCGGGGACCGTGCCCGACCGTGCCAGCTCCCGCCCCGGAAGCGGAAGTGCAAGCACTGCGGGGTCCT)GTCCAGTGTGAGCCCGACCCGAGCTCCAGTAGTTCCGCCCGCTGGTCATCGCGCCCTTTCCCCTGCCGGTGTCCTGCTCGCCGTCCCCGCCATGCTGTCTCTAGACTTTTTGGACGATGTGCGGCGGATGAACAAGCGGCAG|GCAGACCTTTGCAACATAATAACCTTCTCGGAGAGCTCAGGATTCCCCAGGAGGAAATCACCGCTTAGCACCAGAAAGCTAGAGCTTTGGAGGGCACACAGGCGAATTCACACACAAG___GCAATGACTCCAACTCCAAAGAGC MLSLDFLDDVRRMNKRQ|adlcniitfsessgfprrksplstrklelwrahrrihtqgndsnske 11BR020 ENSG00000105662.16 ENSG00000253108.1(148452),ENSG00000254344.3(288845) +/+ ./+ chr19:18683828 chr8:34495183 CDS/splice-site intergenic translocation 3 3 1 32 6 high out-of-frame . Transducer_of_regulated_CREB_activity__N_terminus(100%)| . . ENSG00000105662.16 . ENST00000338797.10 . downstream upstream . ^(AGGAGGAGGAGGT)GGCGGCGAGAAGATGGCGACTTCGAACAATCCGCGGAAATTCAGCGAGAAGATCGCGCTGCACAATCAGAAGCAGGCGGAGGAGACGGCGGCCTTCGAGGAGGTCATGAAGGACCTGAGCCTGACGCGGGCCGCGCGG|TTGCTTCTGTACACTCTTCAACTGTGCTGACTTCCCCCAGAGAATTCAGACACCTCTCTAAAAAGATGCCTGTTGTGGGAGTCGGAGGGTTGCAGTGAGCTGCGATCACGCCACTGCACTCCAGCCTGGTAACAAAGCGAGACTCCATCTCAAACAAACAAACAAACAAAAAATGCC MATSNNPRKFSEKIALHNQKQAEETAAFEEVMKDLSLTRAAR|lllytlqlc* 11BR020 ENSG00000075945.13 ENSG00000226733.4 -/- +/+ chr1:169992155 chr6:50098712 CDS/splice-site exon/splice-site translocation 1 6 0 53 10 high out-of-frame . Kinesin-associated_protein_(KAP)(100%)| . . ENSG00000075945.13 ENSG00000226733.4 ENST00000538366.5 ENST00000648417.1 upstream upstream . ^(CAAGAGGTGCAGAGCAAGCGCATGCGTCGTGACGGCCCGGCTTAGGCGACTCTGGGCGGGTCTGGGCCGCTCCAGTGTTTTGGGGCACAGAAGCTGTGGGAGGAGCTGGAGGCTTCACCGTGGTAACCACAGCGCCGCTGCTGCCCCGCCTTGCAGGCCTCAGGACTGTCATCGCCTCTGGGTGTGAGGGTACTTTGGCCACCGTCCCCGGAAATAACCGCGCCTGCCTCTCAAGATACCCCATCCTCTCCACGCCGCTGCCGCTGCCGCCATGCAAGGGGAGGACGCCAGATACCTCAAAAG___GAAAGTTAAAGGAGGGAATATAGATGTACATCCATCAGAAAAAGCACTCATTGTTCACTATGAAGTGGAAGCTACCATTCTTGGAGAAATGGGGGACCCCATGTTGGGAGAACGAAAAGAATGTCAAAAAAT___CATTCGACTTAAGAGTCTCAATGCCAACACAGATATAACTTCCCTGGCAAGGAAGGTGGTTGAAGAATGTAAACTCATTCATCCTTCAAAACTAAATGAGGTAGAACAGCTGTTGTACTATCTACAGAACCGCCGTGATTCATTGTCAGGAAAAG___ATTGGGAAGGGTCAGCAGGACTTCTGAAGAGGGAACACGACCTTTAAGGAGGCCAACAGATCAGGAGAAGGCAAAAGGGATGTCGATTGCCCTTGGCAACACTTACCGGAGAAGTCTTTCAGATTCAGAAACTGTTTCTGTACTCCAAGCAAGCTTATGTGAAG___AGAAAAAAGAAAAATCAAGCAAGCCTAAAGATCCACCTCCTTTTGAAGGAATGGAG___ATTGATGAAGTTGCTAACATTAATGACATGGATGAATATATTGAGTTATTATATGAAGATATTCCTGACAAAGTTCGGGGTTCTGCTTTGATCCTGCAGCTTGCTCGAAATCCTGATAACTTGGAAGAACTACTATTGAATG___AAACTGCCCTTGGTGCATTAGCAAGGGTCCTGAGAGAAGACTGGAAGCAAAGTGTCGAGTTAGCTACAAACATAATTTACATCTTTTTTTGTTTCTCCAG___CTTTTCTCAATTTCATGGACTTATTACTCACTATAAAATTGGAGCTCTGTGTATGAATATTATTGATCATGAGTTAAAAAGACATGAGCTTTGGCAAGAAGAACTCTCAAAGAAGAAGAAAGCTG___TTGATGAAGACCCTGAAAACCAAACCTTGAGAAAGGATTATGAAAAAACCTTTAAAAAGTACCAGGGGCTTGTGGTAAAACAGGAACAGCTATTACGAG___TTGCTCTTTATTTGCTTCTGAATCTTGCTGAGGATACTCGTACCGAACTGAAAATGAGGAACAAGAACATAGTTCACATGTTGGTGAAAGCCCTTGATCGGGACAATTTTGAGCTGCTAATTTTAGTTGTGTCATTCTTGAAGAAACTCAGCATTTTTATGGAGAATAAAAATGATATG___GTGGAAATGGATATTGTTGAAAAACTGGTGAAAATGATACCTTGTGAGCATGAAGACCTGCTGAATATCACCCTCCGACTTTTACTAAACCTATCCTTTGACACAGGACTGAGGAATAAGATGGTACA)AGTTGGACTGCTTCCCAAGCTCACTGCACTCCTAG___GCAATGACAACTACAAACAAATAGCAATGTGTGTTCTTTACCACATAAGCATGGATGACCGCTTTAAATCAATGTTTGCATACACTGACTGTATACCACAG|AAGGTCATACATATGCTATTGGAGAGTTCACAGCTAGCCCCTCACTACTCAAATTGTGGGTGTTATTGCCAGACTGCGGAGATGCACAAGAATTGACTTGAGAAGCAAGGAGATTATTCATGtTCCTGCACACTCTGTTATCTCTGGGAGCTCTTAATCAATGCAGGGTGAGAGCCAGTTAGCATGACTGAGGTTAGGGTAAACGGGCTGTTCAG(GGAAAGATAAATTAAAATGTGATTATTATTCAAATTGGAATATAGAGAACATAATCCATGATGGAAGAGAAGGAGAATAATAGAAATAAATAAAAATTTACCTACTGAATCACTTGCTCTATTGAATCTAGTCCTTGAAATTCCAAAGACATTATAATATGCTATGACTAAAGGGAATGATTTGGGAGATTTATACTCTATCTTTATTGGCTCCTGCAGATATGCTGAAATACAAATTCTCACATGCTGGAAATGTCTACTAAATGTACCTTGATATACAAATTAAATTCTCCTATAGAAAACTGTACTGTACTCAAAAACCTATATACAAATAAAAAGACTAAATTCTAAATAA)$ MSIALGNTYRRSLSDSETVSVLQASLCEEKKEKSSKPKDPPPFEGMEIDEVANINDMDEYIELLYEDIPDKVRGSALILQLARNPDNLEELLLNETALGALARVLREDWKQSVELATNIIYIFFCFSSFSQFHGLITHYKIGALCMNIIDHELKRHELWQEELSKKKKAVDEDPENQTLRKDYEKTFKKYQGLVVKQEQLLRVALYLLLNLAEDTRTELKMRNKNIVHMLVKALDRDNFELLILVVSFLKKLSIFMENKNDMVEMDIVEKLVKMIPCEHEDLLNITLRLLLNLSFDTGLRNKMVQVGLLPKLTALLGNDNYKQIAMCVLYHISMDDRFKSMFAYTDCIPQ|kvihmllessqlaphysncgcycqtaemhkn* 11BR020 ENSG00000143164.15 ENSG00000008197.5 +/+ +/+ chr1:168045227 chr6:50772645 CDS/splice-site CDS/splice-site translocation 4 3 0 186 8 high in-frame . WD_domain__G-beta_repeat(100%)|Transcription_factor_AP-2(100%) . . ENSG00000143164.15 ENSG00000008197.5 ENST00000432587.6 ENST00000008391.4 downstream upstream . ^(ATCTCGCGAGAAAGGGTTGGCGGGGAGGGTATCCAGGACGAGGAGAGGGAGGAGTCGCCATCGCCTCCGCCTCCGCCTCCTCCTGTTGGAGGGGGGCTGAGGGAGGAGACTGTTGCTGATCTTTGGATGTTCTGGTTAGTCTAAGAAGGAGAGTATGAGGCGAGCTCCGGCCCGGGTGCGGCCGGGCTTCAGGGGCCCAGGCGCCGCTGCTGCCACCGCCATCTAACGCTGCGCCCTGGAGGCCCGGCGCGCGGATGGTGCCGGTGCGGCTCGGGTGTTGAAACGGGTGTCCCCTCCCCCTCCTCCCCTCCCCCACGCGGTGGTCTCCCCTCCCACCCGGCTCAGGCAGAGCCATGTCTCGGGGTGGCTCCTACCCACACCTGTTGTGGGACGTGAGGAAAAGGTCCCTCGGGCTGGAGGACCCGTCCCGGCTGCGGAGTCGCTACCTGG___GAAGAAGAGAATTTATCCAAAGATTAAAACTTGAAGCAACCCTTAATGTGCATGATGGTTGT___GTTTTGACAACAATTCGTTCAGGGCACCGAGCAAACATATTTAGTGCAAAGTTCTTACCTTGTACAAATGATAAACAGATTGTATCCTGCTCTGGAGATGGAGTAATATTTTATACCAACGTTGAGCAAGATGCAGAAACCAACAGACAATGCCAATTTACGTGTCATTATGGAACTACTTATGAG___ATTATGACTGTACCCAATGACCCTTACACTTTTCTCTCTTGTGGTGAAGATGGAACTGTTAGGTGGTTTGATACACGCATCAAAACTAGCTGCACAAAAGAAGATTGTAAAGAT___GATATTTTAATTAACTGTCGACGTGCTGCCACGTCTGTTGCTATTTGCCCACCAATACCATATTACCTTGCTGTTGGTTGTTCTGACAGCTCAGTACGAATATATGATCGGCGAATGCTGGGCACAAGAGCTACAG___GGAATTATGCAGGTCGAGGGACTACTGGAATGGTTGCCCGTTTTATTCCTTCCCATCTTAATAATAAGTCCTGCAGAGTGACATCTCTGTGTTACAGTGAAGATGGTCAAGAGATTCTCGTTAGTTACTCTTCAGATTACATATATCTTTTTGACCCGAAAGATGATACAGCACGAGAACTTAAAACTCCTTCTGCGGAAGAGAGAAGAGAAGAG___TTGCGACAACCACCAGTTAAGCGTTTGAGACTTCGTGGTGATTGGTCAGATACTGGACCCAGAGCAAGGCCGGAGAGTGAACGAGAACGAGATG___GAGAGCAGAGTCCCAATGTGTCATTGATGCAGAGAATGTCTGATATGTTATCAAGATGGTTTGAAGAAGCAAGTGAGGTTGCACAAAGCAATAGAGGACGAGGAAGATCTCGACCCAGAG___GTGGAACAAGTCAATCAGATATTTCAACTCTTCCTACGGTCCCATCAAGTCCTGATTTGGAAGTGAGTGAAACTGCAATGGAAGTAGATACTCCAGCTGAACAATTTCTTCAGCCTTCTACATCCTCTACAATGTCAGCTCAGGCTCATTCGACATCATCTCCCACAGAAAGCCCTCATTCTACTCCTTTGCTATCTTCTCCAGACAGTGAACAAAGGCAGTCTGTTGAGGCATCTGGACACCACACACATCATCAGTCTG___AATTTTTAAGGGGCCCTGAGATAGCTTTGCTTCGTAAGCGCCTGCAACAACTGAGGCTTAAGAAGGCTGAGCAGCAGAGGCAGCAAGAGCTAGCTGCACATACCCAGCAACAGCCTTCCACTTCTGATCAGTCTTCTCATGAGGGCTCTTCACAGGACCCTCATGCTTCAG___ATTCTCCTTCTTCTGTGGTTAACAAACAGCTCGGATCCATGTCACTTGACGAGCAACAGG___ATAACAATAATGAAAAGCTGAGCCCCAAACCAGGGACAGGTGAACCAGTTTTAAGTTTGCACTACAGCACAGAAGGAACAACTACAAGCACAATAAAACTGAACTTTACAGATGAATG___GAGCAGTATAGCATCAAGTTCTAGAGGAATTGGGAGCCATTGCAAATCTGAGGGTCAGGAGGAATCTTTCGTCCCACAGAGCTCAGTGCAACCACCAGAAGGAGACAGTGAAACAA___AAGCTCCTGAAGAATCATCAGAGGATGTGACAAAATATCAGGAAGGAGTATCTGCAGAAAACCCAGTTGAGAACCATATCAATATAA___CACAATCAGATAAGTTCACAGCCAAGCCATTGGATTCCAACTCAGGAGAAAGAAATGACCTCAATCTTGATCGCTCTTGTGGGGTTCC)AGAAGAATCTGCTTCATCTGAAAAAGCCAAGGAACCAGAAACTTCAGATCAGACTAGCACTGAGAGTGCTACCAATGAAAATAACACCAATCCTGAGCCTCAGTTCCAAACAGAAGCCACTGGGCCTTCAGCTCATGAAGAAACATCCACCAGGGACTCTGCTCTTCAGGACACAGATGACAGTGATGATGACCCAGTCCTGATCCCAGGTGCAAGGTATCGAGCAGGACCTGGTGATAG|TTTGATCACTCATGGCTTTGGGACTCCGGCAATATGTGCAGCTCTAAGCACTTTCCAAACAGTTCTCAGTGAAATGCTGAACTACTTGGAAAAACACACTACTCACAAGAACGGCGGAGCGGCGGATTCTGGCCAAGGACATGCCAACTCGGAGAAAGCTCCCCTGCGGAAAACTTCAGAGGCTGCCGTGAAAGAGGGCAAAACAGAAAAGACAGA(CTAGCTACATCAAACAGAATCTATTTCCAGAGAGTCTTGCTGCTGATATTTTTTCTAATATATATATCATTGAGGGTGACTAATCTTCAGTGGACCAAATCTCTACCCTTCCCCAACCCTCCATAAAAAAACAAAAATGGAAATGAAAAATGAAACAAAAAAGGACAAAACCA)$ MSRGGSYPHLLWDVRKRSLGLEDPSRLRSRYLGRREFIQRLKLEATLNVHDGCVLTTIRSGHRANIFSAKFLPCTNDKQIVSCSGDGVIFYTNVEQDAETNRQCQFTCHYGTTYEIMTVPNDPYTFLSCGEDGTVRWFDTRIKTSCTKEDCKDDILINCRRAATSVAICPPIPYYLAVGCSDSSVRIYDRRMLGTRATGNYAGRGTTGMVARFIPSHLNNKSCRVTSLCYSEDGQEILVSYSSDYIYLFDPKDDTARELKTPSAEERREELRQPPVKRLRLRGDWSDTGPRARPESERERDGEQSPNVSLMQRMSDMLSRWFEEASEVAQSNRGRGRSRPRGGTSQSDISTLPTVPSSPDLEVSETAMEVDTPAEQFLQPSTSSTMSAQAHSTSSPTESPHSTPLLSSPDSEQRQSVEASGHHTHHQSEFLRGPEIALLRKRLQQLRLKKAEQQRQQELAAHTQQQPSTSDQSSHEGSSQDPHASDSPSSVVNKQLGSMSLDEQQDNNNEKLSPKPGTGEPVLSLHYSTEGTTTSTIKLNFTDEWSSIASSSRGIGSHCKSEGQEESFVPQSSVQPPEGDSETKAPEESSEDVTKYQEGVSAENPVENHINITQSDKFTAKPLDSNSGERNDLNLDRSCGVPEESASSEKAKEPETSDQTSTESATNENNTNPEPQFQTEATGPSAHEETSTRDSALQDTDDSDDDPVLIPGARYRAGPGDs|LITHGFGTPAICAALSTFQTVLSEMLNYLEKHTTHKNGGAADSGQGHANSEKAPLRKTSEAAVKEGKTEKTD* 11BR020 ENSG00000143614.10 ENSG00000112200.17 -/- +/+ chr1:153922733 chr6:57150719 5'UTR/splice-site CDS/splice-site translocation 2 4 0 19 44 high . . . . . ENSG00000143614.10 ENSG00000112200.17 ENST00000368655.5 ENST00000370706.9 upstream upstream . ^(GTCCTTGTTTGTGTGGTGCCGCCGCCGCCGGTGCAGCCGTCGCCGCCGCCGCTGCCCCCGTCTGTACCGCAGTGTCTGCTCCGCCCGCCCGCCCCGGTCCGGCCCGCCCCCCT)CCCCTACCCCCGTCCCTAGTCCCGTCAGCAGGGTCTGGATCCCCTGTGCCGTCGCCTCTTCCTTTTTCGACGCCTCCGCCGCCGCCTGAGGAGGCGAGCTAGCCGGGAGTTACACCGCCACCGCCAG|AGGAAGAAATTGTTGAGCTTCCAGATTTGGATTACCTGCGAACCATGACTCATATAGTCTTTGTAGATTTTGATAACTGGTCAAACTTTTTTGGTCATCTACCAGGGCATCTAAACCAAGGAACATTTATTTGGGGCTTTCAAG___GAGG(AAACACCAATTGGAAGCCTCCGCTCAACTGTAAGATTTATAACTACCTGAACAGGATTGGATGCTTCTTCCTTCATCCTCGCTGTAGTAAAAGAAAAGATGCTGCTGATTTTGCCATATGTATGCAT___GCTGGCCGTCTAGATGAACAACTACCCAAGCAAATTCCTTTCACCATCCTCTCAGGAGATCAAGGTTTTCTGGAGCTAGAGAATCAATTTAAGAAGACTCAGAGGCCAGCTCATATACTAAACCCTCACCACTTAGAGGGAGATATGATGTGTGCCTTGTTAAATAGCATATCTGATACCACCAAAG___AATGTGACAGTGATGATAACATGGGTGCCAAAAATACTTCAATAGGAGAAGAATTTATATCCACAGAAG___ATGTGGAATTAGAAGAAGCTATTAGAAGAAGTCTTGAGGAAATGTAATTAAAGATATTACCACACAACATCAAGTGGCCTTGAAGAGACTGAGATAACGAATTCTTGAGTTTGTTTTCTAAAGGAGACCAGAAATCCACTATTACAAATGTATTTGAAAACATGTTTTTGCTTTCATATGTTCAAAATCTGATCTTTGTTTTGTATTTTTGTGCTAATGTGCAAACATGTACAGAAGAAATAGAATACATGTTCATGCAAATATAAATTATGTATTCTAATATAGGTGTAACAGTTTCCCAGTTAACTTTGAATTTATATATTTAGATTTAAAGGATTAAAAAAAAGGAAAGCTCTTGACAGTTGTTTCCCAAATAGCATTAGTTCTTTAATTTTATTTGTACTGTACAAATGATGCTAGTTTATTTTTTTAGCAGTGAAAATGAATATAAAAAAGGTGACATAGGTCAAGTTTTCCATAAATTCTACTTCTCATGTGGCACTATTATATAATACCTTTGAGATCTTTGTTTATGTTTATTAGAAGAGGGTAATGGAAACTGATCATGGAAACATTTAAAATTTTATCAGCAATGTTCTTTGTGGGTGCCATGCATATGTAAATTATTGCTTTAATTAGAGCAGCACATTGCTAAAATAAAAAATACACCTTAATTTTTAAGAAATAATTTAAATGAAACAATTTCCATTCCTTTTACCTGCTTAGACTTTTATGTGACTTGTATGGTCTCCTGGTTAAAGGGAATGGTGTCAGAATATTTGCATAAAATTATTTTTCATAACAGTCCTTTTTTATATATTGGTGTAAACATAATATTCTTCAAGAAATAATGTTGAAAGCCTACTCAGGAATAATCTTCCTTAACTCTTTAAATTTTTATTTCATGTGAAGTGTTTTCAGTTTAGTTATTCACTGAATTGTCAGTTTCCTTCATTTGGTATTACATATTTAATTCTTAAATATTGAGGCCCCATTGTGAGTAATAAAAAATACGACATAAGTAGAAGACTAAGAAGGGCTTGTCATATTATCTTTGTGTATATGCTTCATGTTATTTAACCAGAAATGTCTTATCTCTAAAAATTTTTAGTAGTAATTATTTACCAAACTTAAAAACATTTCTATAAATATAAAGCTTTTCTTTATATTTAAGACAAAATATAAAGGCTAGAATTTGGTTCCTTCTCTGTAACACTAAATATTTTAGTGTGAAATTGAATTTTTTTATTACTATAGTCTTTTCAATCTATAATTTGTGTTTTTAATTTCTTGATATGTCACTTCTGTTCCTCCCTGCTTGCATTTTTTAAAAACTAGACATTGTGGCTTGAGAATTTATCAATCATCTTTCCGAAATGACCACATTGTGCTTTTAGTTTGTATGTTTAAGTGGTCAAGCAAGGCTCTAGGAGGTAGTCACTGAGCTGGACCTTAAACACATCTGCAGGAGCTCACAAAATGGGAGCAAAAGAGGCATTCCAGAAAGAAGAGTAGTTAAGCAGATGTGGGGGCAGGGCAAGAGGAGACAGCACCTTGTTGCCAGAGATTCTACACAAAGGTGTGATGGACACTGATGCTCTATTAAGAAGCTTTTGTGGTGTGTGTGGTAGAGAATAATTAAGGCTTCTGATAAGACAGGAAAGGGATATTTCATCATGACTGTTAAGAAAAGGTAACTGGGTTGTTTAATGTTTTAATTGATAATTGTCACTGATCGTATTTCTACTTGTTAAATAATTAAAAATCATCTTAAAATTCATACTTTGACTTTAATTTAGACACAAGGAGATGTAATCGCTGTGTAACATCAGAGAAAGCTATATGGATTATCGTCAGAAGTAAATGTTTCTAACATTGACAAA)$ . 11BR020 ENSG00000143614.10 ENSG00000112200.17 -/- +/+ chr1:153922733 chr6:57152221 5'UTR/splice-site CDS/splice-site translocation 1 1 0 19 63 medium . . . . . ENSG00000143614.10 ENSG00000112200.17 ENST00000368655.5 ENST00000357489.7 upstream upstream . ^(GTCCTTGTTTGTGTGGTGCCGCCGCCGCCGGTGCAGCCGTCGCCGCCGCCGCTGCCCCCGTCTGTACCGCAGTGTCTGCTCCGCCCGCCCGCCCCGGTCCGGCCCGCCCCCCTCCCCTACCCCCGTCCCTA)GTCCCGTCAGCAGGGTCTGGATCCCCTGTGCCGTCGCCTCTTCCTTTTTCGACGCCTCCGCCGCCGCCTGAGGAGGCGAGCTAGCCGGGAGTTACACCGCCACCGCCAG|GAGGAAACACCAATTGGAAGCCTCCGCTCAACTGTAAGATTTATAACTACCTGAACAGGATTGGATGCTTCTTCCTTCATCCTCGCTGTAGTAAAAGAAAAGATGCTGCTGATTTTGCCATATGTATGCAT___GCTGGCC(GTCTAGATGAACAACTACCCAAGCAAATTCCTTTCACCATCCTCTCAGGAGATCAAGGTTTTCTGGAGCTAGAGAATCAATTTAAGAAGACTCAGAGGCCAGCTCATATACTAAACCCTCACCACTTAGAGGGAGATATGATGTGTGCCTTGTTAAATAGCATATCTGATACCACCAAAG___AATGTGACAGTGATGATAACATGGGTGCCAAAAATACTTCAATAGGAGAAGAATTTATATCCACAGAAG___ATGTGGAATTAGAAGAAGCTATTAGAAGAAGTCTTGAGGAAATGTAATTAAAGATATTACCACACAACATCAAGTGGCCTTGAAGAGACTGAGATAACGAATTCTTGAGTTTGTTTTCTAAAGGAGACCAGAAATCCACTATTACAAATGTATTTGAAAACATGTTTTTGCTTTCATATGTTCAAAATCTGATCTTTGTTTTGTATTTTTGTGCTAATGTGCAAACATGTACAGAAGAAATAGAATACATGTTCATGCAAATATAAATTATGTATTCTAATATAGGTGTAACAGTTTCCCAGTTAACTTTGAATTTATATATTTAGATTTAAAGGATTAAAAAAAAGGAAAGCTCTTGACAGTTGTTTCCCAAATAGCATTAGTTCTTTAATTTTATTTGTACTGTACAAATGATGCTAGTTTATTTTTTTAGCAGTGAAAATGAATATAAAAAAGGTGACATAGGTCAAGTTTTCCATAAATTCTACTTCTCATGTGGCACTATTATATAATACCTTTGAGATCTTTGTTTATGTTTATTAGAAGAGGGTAATGGAAACTGATCATGGAAACATTTAAAATTTTATCAGCAATGTTCTTTGTGGGTGCCATGCATATGTAAATTATTGCTTTAATTAGAGCAGCACATTGCTAAAATAAAAAATACACCTTAATTTTTAAGAAATAATTTAAATGAAACAATTTCCATTCCTTTTACCTGCTTAGACTTTTATGTGACTTGTATGGTCTCCTGGTTAAAGGGAATGGTGTCAGAATATTTGCATAAAATTATTTTTCATAACAGTCCTTTTTTATATATTGGTGTAAACATAATATTCTTCAAGAAATAATGTTGAAAGCCTACTCAGGAATAATCTTCCTTAACTCTTTAAATTTTTATTTCATGTGAAGTGTTTTCAGTTTAGTTATTCACTGAATTGTCAGTTTCCTTCATTTGGTATTACATATTTAATTCTTAAATATTGAGGCCCCATTGTGAGTAATAAAAAATACGACATAAGTAGAAGACTAAGAAGGGCTTGTCATATTATCTTTGTGTATATGCTTCATGTTATTTAACCAGAAATGTCTTATCTCTAAAAATTTTTAGTAGTAATTATTTACCAAACTTAAAAACATTTCTATAAATATAAAGCTTTTCTTTATATTTAAGACAAAATATAAAGGCTAGAATTTGGTTCCTTCTCTGTAACACTAAATATTTTAGTGTGAAATTGAATTTTTTTATTACTATAGTCTTTTCAATCTATAATTTGTGTTTTTAATTTCTTGATATGTCACTTCTGTTCCTCCCTGCTTGCATTTTTTAAAAACTAGACATTGTGGCTTGAGAATTTATCAATCATCTTTCCGAAATGACCACATTGTGCTTTTAGTTTGTATGTTTAAGTGGTCAAGCAAGGCTCTAGGAGGTAGTCACTGAGCTGGACCTTAAACACATCTGCAGGAGCTCACAAAATGGGAGCAAAAGAGGCATTCCAGAAAGAAGAGTAGTTAAGCAGATGTGGGGGCAGGGCAAGAGGAGACAGCACCTTGTTGCCAGAGATTCTACACAAAGGTGTGATGGACACTGATGCTCTATTAAGAAGCTTTTGTGGTGTGTGTGGTAGAGAATAATTAAGGCTTCTGATAAGACAGGAAAGGGATATTTCATCATGACTGTTAAGAAAAGGTAACTGGGTTGTTTAATGTTTTAATTGATAATTGTCACTGATCGTATTTCTACTTGTTAAATAATTAAAAATCATCTTAAAATTC)$ . 11BR020 ENSG00000143164.15 ENSG00000110002.16 +/+ +/- chr1:168068463 chr11:124123462 CDS/splice-site intron translocation/5'-5' 4 1 1 125 51 high out-of-frame . WD_domain__G-beta_repeat(100%)| . . ENSG00000143164.15 ENSG00000110002.16 ENST00000432587.6 . downstream downstream . ^(ATCTCGCGAGAAAGGGTTGGCGGGGAGGGTATCCAGGACGAGGAGAGGGAGGAGTCGCCATCGCCTCCGCCTCCGCCTCCTCCTGTTGGAGGGGGGCTGAGGGAGGAGACTGTTGCTGATCTTTGGATGTTCTGGTTAGTCTAAGAAGGAGAGTATGAGGCGAGCTCCGGCCCGGGTGCGGCCGGGCTTCAGGGGCCCAGGCGCCGCTGCTGCCACCGCCATCTAACGCTGCGCCCTGGAGGCCCGGCGCGCGGATGGTGCCGGTGCGGCTCGGGTGTTGAAACGGGTGTCCCCTCCCCCTCCTCCCCTCCCCCACGCGGTGGTCTCCCCTCCCACCCGGCTCAGGCAGAGCCATGTCTCGGGGTGGCTCCTACCCACACCTGTTGTGGGACGTGAGGAAAAGGTCCCTCGGGCTGGAGGACCCGTCCCGGCTGCGGAGTCGCTACCTGG___GAAGAAGAGAATTTATCCAAAGATTAAAACTTGAAGCAACCCTTAATGTGCATGATGGTTGT___GTTTTGACAACAATTCGTTCAGGGCACCGAGCAAACATATTTAGTGCAAAGTTCTTACCTTGTACAAATGATAAACAGATTGTATCCTGCTCTGGAGATGGAGTAATATTTTATACCAACGTTGAGCAAGATGCAGAAACCAACAGACAATGCCAATTTACGTGTCATTATGGAACTACTTATGAG___ATTATGACTGTACCCAATGACCCTTACACTTTTCTCTCTTGTGGTGAAGATGGAACTGTTAGGTGGTTTGATACACGCATCAAAACTAGCTGCACAAAAGAAGATTGTAAAGAT___GATATTTTAATTAACTGTCGACGTGCTGCCACGTCTGTTGCTATTTGCCCACCAATACCATATTACCTTGCTGTTGGTTGTTCTGACAGCTCAGTACGAATATATGATCGGCGAATGCTGGGCACAAGAGCTACAG___GGAATTATGCAGGTCGAGGGACTACTGGAATGGTTGCCCGTTTTATTCCTTCCCATCTTAATAATAAGTCCTGCAGAGTGACATCTCTGTGTTACAGTGAAGATGGTCAAGAGATTCTCGTTAGTTACTCTTCAGATTACATATATCTTTTTGACCCGAAAGATGATACAGCACGAGAACTTAAAACTCCTTCTGCGGAAGAGAGAAGAGAAGAG___TTGCGACAACCACCAGTTAAGCGTTTGAGACTTCGTGGTGATTGGTCAGATACTGGACCCAGAGCAAGGCCGGAGAGTGAACGAGAACGAGATG___GAGAGCAGAGTCCCAATGTGTCATTGATGCAGAGAATGTCTGATATGTTATCAAGATGGTTTGAAGAAGCAAGTGAGGTTGCACAAAGCAATAGAGGACGAGGAAGATCTCGACCCAGAG___GTGGAACAAGTCAATCAGATATTTCAACTCTTCCTACGGTCCCATCAAGTCCTGATTTGGAAGTGAGTGAAACTGCAATGGAAGTAGATACTCCAGCTGAACAATTTCTTCAGCCTTCTACATCCTCTACAATGTCAGCTCAGGCTCATTCGACATCATCTCCCACAGAAAGCCCTCATTCTACTCCTTTGCTATCTTCTCCAGACAGTGAACAAAGGCAGTCTGTTGAGGCATCTGGACACCACACACATCATCAGTCTG___AATTTTTAAGGGGCCCTGAGATAGCTTTGCTTCGTAAGCGCCTGCAACAACTGAGGCTTAAGAAGGCTGAGCAGCAGAGGCAGCAAGAGCTAGCTGCACATACCCAGCAACAGCCTTCCACTTCTGATCAGTCTTCTCATGAGGGCTCTTCACAGGACCCTCATGCTTCAG___ATTCTCCTTCTTCTGTGGTTAACAAACAGCTCGGATCCATGTCACTTGACGAGCAACAGG___ATAACAATAATGAAAAGCTGAGCCCCAAACCAGGGACAGGTGAACCAGTTTTAAGTTTGCACTACAGCACAGAAGGAACAACTACAAGCACAATAAAACTGAACTTTACAGATGAATG___GAGCAGTATAGCATCAAGTTCTAGAGGAATTGGGAGCCATTGCAAATCTGAGGGTCAGGAGGAATCTTTCGTCCCACAGAGCTCAGTGCAACCACCAGAAGGAGACAGTGAAACAA___AAGCTCCTGAAGAATCATCAGAGGATGTGACAAAATATCAGGAAGGAGTATCTGCAGAAAACCCAGTTGAGAACCATATCAATATAA___CACAATCAGATAAGTTCACAGCCAAGCCATTGGATTCCAACTCAGGAGAAAGAAATGACCTCAATCTTGATCGCTCTTGTGGGGTTCCAGAAGAATCTGCTTCATCTGAAAAAGCCAAGGAACCAGAAACTTCAGATCAGACTAGCACTGAGAGTGCTACCAATGAAAATAACACCAATCCTGAGCCTCAGTTCCAAACAGAAGCCACTGGGCCTTCAGCTCATGAAGAAACATCCACCAGGGACTCTGCTCTTCAGGACACAGATGACAGTGATGATGACCCAGTCCTGATCCCAGGTGCAAGGTATCGAGCAGGACCTGGTGATAG___ATTTAATATCAGAGGAACAACAATAGGTGATAGAATAATGAG___ACGCTCTGCTGTTGCCCGTATTCAGGAGTTCTTCAGACGGAGAAAAGAAAGGAAAGAAATGGAAGAATTGGATACTTTGAACATTAGAAGGCCGCTAGTAAAAATGGTTTATAAAGGCCATCGCAACTCCAGGACAATG___ATAAAAGAAGCCAATTTCTGGGGTGCTAACTTTGTAATGAGTGGTTCTGACTGTGGCCACATTTTCATCTGGGATCGGCACACTGCTGAGCATTTGATGCTTCTGGAAGCTGATAATCATGTGGTAAACTGCCTGCAGCCACATCCGTTTGACCCAA___TTTTAG)CCTaATCTGGCATAGATTATGACATAAAGATCTGGTCACCATTAGAAGAGTCAAGGATTTTTAACCGAAAACTTGCTGATGAA___GTTATAACTCGAAACGAACTCATGCTGGAAGAAACTAGAAACACCATTACAGTTCCAGCCTCTTTCATGTTGAGGATGTTGGCTTCACTTAATCATATCCGAGCTG|AAACTTACGGAAAGCATGCCTCATAGGAAGAGCCAAATCCATAGATGTTGAAATAACAGCCTATAGGTAAACTCTTCAGCAGCAAAATCAGTGTTTCCTGAAG___GTTTCATTTGGCAGAACTCTGAATGGTTTCAGTGAGACAAGCTGCCGCTTAAAGCTGTCATTCGCTTCCTTGTGTG MSRGGSYPHLLWDVRKRSLGLEDPSRLRSRYLGRREFIQRLKLEATLNVHDGCVLTTIRSGHRANIFSAKFLPCTNDKQIVSCSGDGVIFYTNVEQDAETNRQCQFTCHYGTTYEIMTVPNDPYTFLSCGEDGTVRWFDTRIKTSCTKEDCKDDILINCRRAATSVAICPPIPYYLAVGCSDSSVRIYDRRMLGTRATGNYAGRGTTGMVARFIPSHLNNKSCRVTSLCYSEDGQEILVSYSSDYIYLFDPKDDTARELKTPSAEERREELRQPPVKRLRLRGDWSDTGPRARPESERERDGEQSPNVSLMQRMSDMLSRWFEEASEVAQSNRGRGRSRPRGGTSQSDISTLPTVPSSPDLEVSETAMEVDTPAEQFLQPSTSSTMSAQAHSTSSPTESPHSTPLLSSPDSEQRQSVEASGHHTHHQSEFLRGPEIALLRKRLQQLRLKKAEQQRQQELAAHTQQQPSTSDQSSHEGSSQDPHASDSPSSVVNKQLGSMSLDEQQDNNNEKLSPKPGTGEPVLSLHYSTEGTTTSTIKLNFTDEWSSIASSSRGIGSHCKSEGQEESFVPQSSVQPPEGDSETKAPEESSEDVTKYQEGVSAENPVENHINITQSDKFTAKPLDSNSGERNDLNLDRSCGVPEESASSEKAKEPETSDQTSTESATNENNTNPEPQFQTEATGPSAHEETSTRDSALQDTDDSDDDPVLIPGARYRAGPGDRFNIRGTTIGDRIMRRSAVARIQEFFRRRKERKEMEELDTLNIRRPLVKMVYKGHRNSRTMIKEANFWGANFVMSGSDCGHIFIWDRHTAEHLMLLEADNHVVNCLQPHPFDPILA*SGIDYDIKIWSPLEESRIFNRKLADEVITRNELMLEETRNTITVPASFMLRMLASLNHIRA|etygkhas* 11BR020 ENSG00000167632.17 ENSG00000245164.8 -/- -/+ chr8:140221459 chr8:126267147 CDS/splice-site intron inversion/5'-5' 4 2 0 125 4 high out-of-frame . Transport_protein_Trs120_or_TRAPPC9__TRAPP_II_complex_subunit(100%)| . . ENSG00000167632.17 ENSG00000245164.8 ENST00000648948.2 . upstream upstream . ^(AAAGTCGGGAGTGCCATGGTGCCAGCTGGGGATCAAGACCGCGCGCCACACAGGGGGAAGCCGGCCCAGGCTGGGGCTCGCACCTCACGTGCCTCCCGGGCCCTGCGATCCTGGAGGCGCTCCCAGGCCGCGCGCGCCACGGTCACCCACCCACGTGGGGGGCACGACCGTGGGAGTCACGGGGGGTACCGTGAGGGTCACAGGGGGTGCCGCAGGGATCCACAGTGGGCTTCCGCGGGGCCTCCACCCCTGAGCTTCACAGAGGAAGTGAAATTTGAGCTGCGCGCCCTGAAGGACTG___GGACTTCAAAATGAGCGTCCCTGACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATCGTCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGCGGGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTGGGGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCCAAGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATCTACGGCTCCACACTGTATGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGTGGCTTTCTACCCCAACTACGAGGACTGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAGTCACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGATCCCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAG___ACATTACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGGGACCTGTGCCTGCAGGCAGGGATGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACTTTCTGTGGCTTGGAG___CTGCCCTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGGTGGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCAGCCAATAGACACCGGCCAG___GGGCACAGGAAGTTCTCATTGATCCAG___GTGCCCTCACCACCAATGGCATCAACCCTGACACCAGTACTGAGATCGGACGTGCTAAGAACTGCCTTAGCCCTGAAGACATAATTGACAAGTATAAAGAGGCGATTTCCTATTACAGCAAG___TATAAGAATGCGGGAGTGATTGAGTTGGAAGCGTGCATCAAGGCTGTACGTGTCCTTGCAATTCAGAAACGGAGCATGGAAGCATCAGAATTTCTTCAGAATGCAGTTTACATTAACCTTCGACAG___CTTTCTGAGGAAGAGAAAATTCAGCGCTACAGCATCCTCTCCGAGCTCTATGAGCTGATCGGCTTCCATCGCAAGTCTGCGTTCTTCAAGCGCGTGGCCGCCATGCAGTGCGTGGCCCCAAGCATCGCGGAGCCTGGGTGGAGGGCCTGCTACAAACTCCTCCTGGAAACGCTGCCCGGCTACAGTCTGTCGCTGGATCCCAAAGATTTCAGCAGAG___GCACGCACAGAGGCTGGGCTGCGGTCCAGATGCGTTTGCTCCATGAATTGGTCTACGCCTCCCGAAGGATGGGGAACCCTGCCCTCTCTGTCAGACACCTGTCCTTCCTTCTACAGACCATGCTGGACTTCTTGTCGGATCAGG___AAAAGAAAGATGTGGCCCAAAGCCTAGAGAACTATACGTCCAAGTGTCCTGGGACCATGGAGCCCATCGCCCTCCCTGGCGGCCTCACCCTGCCACCGGTGCCCTTCACCAAGCTTCCCATCGTCAG___GCATGTGAAACTATTGAACCTTCCTGCTAGCCTCCGGCCACACAAAATGAAAAGCTTGCTGGGTCAGAACGTGTCAACCAAAAGTCCTTTCATCTATTCACCAATTATCGCACACAACCGTGGAGAAGAGCGGAACAAGAAAATAG___ATTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTTCAGCTGATGGTATATAACCCAATGCCGTTTGAACTTCGAGTTGAAAACATG___GGGCTGCTCACCAGCGGAGTGGAGTTCGAGTCTCTCCCTGCGGCGCTTTCTCTTCCGGCTGAATCTGGTCTGTACCCAGTGACGCTCGTCGGGGTCCCGCAGACGACTGGAACGATTACTGTGAACG___GTTACCATACCACGGTCTTCGGTGTGTTCAGTGACTGTTTGCTGGATAACCTGCCGGGAATAAAAACCAGTGGCTCCACAGTGGAAGTCATTCCCGCGTTGCCAAGACTGCAGATCAGCACCTCTCTGCCCAG___ATCTGCACATTCATTGCAACCTTCTTCTGGTGATGAAATATCTACTAATGTATCTGTCCAGCTTTACAATGGAGAAAGTCAGCAACTAATCATTAAATTGGAAAATATTGGAATGGAACCATTGGAGAAACTGGAGGTCACCTCGAAAGTTCTCACCACTAAAG___AAAAATTGTATGGCGACTTCTTGAGCTGGAAGCTAGAGGAAACCCTTGCCCAGTTCCCTTTGCAGCCTGGGAAGGTGGC)CACGTTCACAATCAACATCAAAGTGAAGCTGGATTTCcCCTGCCAGGAGAATCTCCTGCAGGATCTCAGTGATG___ATGGAATCAGTGTGAGTGGCTTTCCCCTGTCCAGTCCTTTTCGGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACCTGTGAACCCACCCGAGAGCAACAAAGCAGGCGACTACAGCCACGTGAAG|AATCCTTGGCCAGTCAAATCTACAGGGTATCTCTCCTCAAGCAGTAATCAGGGGTCCATGATTGCCATGACAGAAGAAGAAACAGAAGAATAATGATTGCTGGCTGTTAACTTCCTCGGCCTGGAAGTCATACTCTCTGCTCACCTCTCATTGGTTTGGACCAACCTACAGTCCCGTAGTGAGG___GATCTTGCTCTGTC MSVPDYMQCAEDHQTLLVVVQPVGIVSEENFFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPENNEWGDFQTHRKVVGLITITDCFSAKDWPQTFEKFHVQKEIYGSTLYDSRLFVFGLQGEIVEQPRTDVAFYPNYEDCQTVEKRIEDFIESLFIVLESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDTDSRHYKKRCQGRMRKHVGDLCLQAGMLQDSLVHYHMSVELLRSVNDFLWLGAALEGLCSASVIYHYPGGTGGKSGARRFQGSTLPAEAANRHRPGAQEVLIDPGALTTNGINPDTSTEIGRAKNCLSPEDIIDKYKEAISYYSKYKNAGVIELEACIKAVRVLAIQKRSMEASEFLQNAVYINLRQLSEEEKIQRYSILSELYELIGFHRKSAFFKRVAAMQCVAPSIAEPGWRACYKLLLETLPGYSLSLDPKDFSRGTHRGWAAVQMRLLHELVYASRRMGNPALSVRHLSFLLQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALPGGLTLPPVPFTKLPIVRHVKLLNLPASLRPHKMKSLLGQNVSTKSPFIYSPIIAHNRGEERNKKIDFQWVQGDVCEVQLMVYNPMPFELRVENMGLLTSGVEFESLPAALSLPAESGLYPVTLVGVPQTTGTITVNGYHTTVFGVFSDCLLDNLPGIKTSGSTVEVIPALPRLQISTSLPRSAHSLQPSSGDEISTNVSVQLYNGESQQLIIKLENIGMEPLEKLEVTSKVLTTKEKLYGDFLSWKLEETLAQFPLQPGKVATFTINIKVKLDFpCQENLLQDLSDDGISVSGFPLSSPFRQVVRPRVEGKPVNPPESNKAGDYSHVK|npwpvkstgylssssnqgsmiamteeetee* 11BR020 ENSG00000213096.10 ENSG00000240627.1(82551),ENSG00000259663.2(14451) +/+ ./+ chr19:24087337 chr5:51358285 CDS/splice-site intergenic translocation 4 2 0 43 17 high . . . . . ENSG00000213096.10 . ENST00000611359.3 . downstream upstream . ^(ACAAAGCGGCTTCC)GGGATATGGCGGGGCCTTTGTCTCTCGCTGTCGCCGGAGTCCCAGGTCTGTCTTCACTGCTCTGTGTCCTCTGCTCCTAGAGGCCCAGCCTCTGTGGCGCTGTTACCAGCAGGTATTGGAGATCCACAGCTAAGATGCCAGGACCCCCTAGAAGCCTAGAAATG|GTCCCCTGTCAAGTTCTGCTGGGGAGCAAGACCACCGGTGTGAGGTTCTGCTGGGACCTCAGAGAGCCTGCATCCCCGGATGCTGGGTGGCCCTGCGGCCTCCTCCACCTCACCTCCATGACAGCGGTAGAAGTGTGTGACAGTTGGGAG . 11BR020 ENSG00000249859.11 ENSG00000254303.1 +/+ -/- chr8:128010444 chr8:122046711 exon/splice-site intron inversion 2 4 0 98 38 high . . . . . ENSG00000249859.11 ENSG00000254303.1 ENST00000657449.1 . downstream downstream . ^(GGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA___GTGGGAAGTGAGTGATGACCCTGAAGTGAGGACTCATCTCTAGATCTCCAAGGGCTGCAGCTCAGCCAGCACTTTACAAGGGTGATCTGGAGCCAAACTGGCCTGTTGGCTGACCATAGGTGACTCTGGGTAGCCCATACCCAGGCTCAGCAGCAGTTGGGGAGCTGCCTCGATTTCTGGTTACAGAATTCCTGGAACTGAGTCACTGCAGTAATTGCTGTGATGAATTGTGTTTACTTTGTGTGGGATTCCAAACTGTAGCAGCAGTGACTACAGCTGGAAGACAGCATGATCAGCAGCTTCCAAGGCAGAGCCTGGCGTCAGAAAGCTGCATTGCGCTAATGCTGAAGCCTGTGGGAGCCTGTTGGAGAGACACTTGGATGTTTAGCGAGCTGGTGACTCTCCTTGTCATGA___GCCTGATCTTTTGGCCAGAAGGAGATTAAAAAGATGCCCCTCAAGATGGCTGTGCCTGTCAGCTGCATGGAGCTTCGTTCAAGTATTTTCTGAGCCTGATGGATTTACAGTGATCTTCAGTGGTCTGGGGAATAACGCTGGTGGAACCATGCACTGGAATGACACACGCCCGGCACATTTCAGGATACTAAAAGTGGTTTTAAGGGAGGCTGTGGCTGAATGCCTCATGGATTCTTACAGCTTGGATGTCCATGGGGGACGAAGGACTGCAGCTGGCTGAGAGGGTTGAGATCTCTGTTTACTTAGATCTCTGCCAACTTCCTTTGGGTCTCCCTATGGAATGTAAGACCCCGACTCTTCCTGGTGAAGCATCTGATGCACGTTCCATCCGGCGCTCAGCTGGGCTTGAG___CTGACCATACTCCCTGGAGCCTTCTCCCGAGGTGCGCGGGTGACCTTGGCACATACAGCCATCATGATGGTACTTTAAGTGGAGGCTGAATCATCTCCCCTTTGAGCTGCTTGGCACGTGGCTCCCTTGGTGTTCCCCTTTTACTGCCAGGACACTGAGATTTGGAGAG___AATCCTGTTACACCTGGGATTTAGGCACTTTCAATCTGAAAAAATACATATCCTTTCAGCACTCTGGACGGACTTGAGAACTGTCCTTACGTGACCTAAAGCTGGAGTATTTTGAGATTGGAGAATTAAG___AGTGTGGGCACCCTGGCTTCAAGCTCACGAGAAACCAG___AAGGAAGTCACTGTGCATAGCCATCCCCTAAGAAGAGGGCATTCCTGCTCTTCCTTCTCCATGGCTAGAGGATCTACATGAACTATTTAGATTTTTTCTACCTGGGAGATTTAACTCCTCTCTCCTATTTATTTATTTATATATCAGCATGGACTTGCAG___GCCAACAGAGATTTTGAGA)AACACATTGAAGGATCTGTTAACACTTGATATACCCAATAAAAGCAGTGGTTGTGCCAGTGCTGATCTGTCTTGATGTGAATGTGAACAATGGGAACCTGAGCTGAGCAG___TTAATGtTAGGGTGACAGAAACTGGACCTCTCCCAAGACATGTGACAGAGTAATACAGCAGCCAACTTCTTCGCCAAATTAAAGTTTTACAAGATTTAACCTGTCATCAAGACCTGGGATTTTGGTG|TAAGGACAGAGTGAGAAAACAGCCATCTGGAAGCTATGAAGAGAACCCTCACCAGAACCCCAACATGCTGGCACCCTGATCTTGGACTTTCAGCTGCCAGAAGTGTGAGAAAATAAATTTCTGTTGTTTAAGCCACCCAGTCTATGCAATATTGTTATGATCCGAGATAACCAGGACACATCCTTTTATTTTCAAACTTCATGTTGCGTTTCTAAATTTTTTGTTTAGTTTTACCTTTTGTATATAGAATATAGTTAAATATTGTTTCC . 11BR020 ENSG00000232593.7 ENSG00000102103.16 +/+ +/+ chrX:53099608 chrX:48898492 5'UTR/splice-site 5'UTR/splice-site duplication 3 2 0 10 338 high . . . . . ENSG00000232593.7 ENSG00000102103.16 ENST00000604062.6 ENST00000651767.1 downstream upstream . ^(GGCGTAGGCCCGTGCCCCTGCTCGCGCTGCAGCCCGTGGAAGGGTTCCGTCCAGCGTATCCTTCAGATCTTGCTGTAGGCCTCTGGTGTCTGTGCGCGCGCGGCAGGGGCGGCGGCGGCGACGGCCGGAGGTGTACG___TTGCTTCCTCTACTGAAGTCT)TGAAACCCCTGAAAGTCATCCCTGAGGTTTGAAGTTAACTTCTTCTACACCCTGTTAATGTTGATATTTTGACCTCCTTCCATGAATCACAAATGTTCTTAATGGCATCTAGAATG|GTCTGTCTGCTATCAGCTATGCCGCTGCCCGTTGCGCTGCAGACCCGCTTGGCCAAGAGAGGCATCCTCAAACATCTGGAGCCTG___AACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTG___CGGGCTCCCTTACTACTGGAATGCAGACACAGAC(CTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAG___ATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGG___CAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCG___GGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCT)$ . 11BR020 ENSG00000083290.20 ENSG00000173157.17 -/- -/- chr17:19795622 chr12:43532195 CDS/splice-site CDS/splice-site translocation 2 2 0 24 2 high out-of-frame . Protein_kinase_domain(100%)|ADAM-TS_Spacer_1(100%),GON_domain(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%),Thrombospondin_type_1_domain(100%) . . ENSG00000083290.20 ENSG00000173157.17 ENST00000361658.6 ENST00000389420.8 upstream downstream . ^(AGTCGCGCGGGAGCGGGTAGCGCGCGCGAGGGCGTTGGGCGCCGCCGCGAGGCGGGGAAGCGCGGGGCCGCGGCGGTGCGGGTTCTAGGGCGGCGGCCGTCGCCGTCGCAGCAGCGCCCCGAGCGGGGAGGGCCGAGGAGGCCCGACGAGCTGGGGATGGAGAGTACCGGGCCCCTCACTGCCTCAGAGCGCGTGTGCGGCTCTGGGCGCGCACAGTGACGGTGACGGCACCCCTGGCCCGGCAGCGCCGAGGCCGCTTCGCCAGACAGCCAGCGGCCGGCGGCAGGCCGGGCCATGAGCGGCAGGGGCCGGGCCGGGCCTCGCTGACCCTGGCTCCGCGCGGCAGCTTCCCCAGTTTCCGCTCCGGTCTCTCGGCATGAGAGTCCGCCCGGGCCCGGGGCTGCGGCTGCCCCAGACCCGCCGCACGCTGGCGCGCTCCGGGCCCGCGGAGCCGCGGTGCTGATACCTGCGCCGCACTGCGCCGCCCGCCCGTCCGCTGTGTGCCCCGGGGGCGCGGCCATGGAGGTGGTGGGTGACTTCGAGTACAGCAAGAGGGATCTCGTGGGACACGGGGCCTTCGCCGTGGTCTTCCGGGGGCGGCACCGCCAG___AAAACTGATTGGGAGGTAGCTATTAAAAGTATTAATAAAAAGAACTTGTCAAAATCACAAATACTGCTTGGAAAGGAAATTAAAATCTTAAAG___GAACTTCAGCATGAAAATATTGTAGCACTCTATGATGTTCAG___GAATTACCCAACTCTGTCTTTTTGGTGATGGAG___TATTGCAATGGTGGAGACCTCGCAGATTATTTGCAAG___CGAAAGGGACTCTCAGTGAAGACACGATCAGAGTGTTTCTGCATCAGATTGCTGCTGCCATGCGAATCCTGCACAGCAAAGGAATCATCCACAGAGATCTCAAACCACAGAACATCTTGCTGTCCTATGCCAATCGCAGAAAATCAAGTGTCAGTGGTATTCGCATCAAAATAG___CGGATTTTGGTTTTGCTCGTTACCTACATAGTAACATGATGGCTGCAACACTGTGTGGATCCCCGATGTACATG___GCTCCTGAGGTTATTATGTCTCAACATTATGATGCTAAGGCTGACTTGTGGAGCATAGGAACAGTGATATACCAATGCCTAGTTGGAAAACCACCTTTTCAG___GCCAATAGTCCTCAAGACTTAAGGATGTTTTATGAAAAAAACAGGAGCTTAATGCCTAG___TATTCCCAGAGAAACATCACCTTATTTGGCTAATCTCCTTTTGGGTTTGCTTCAGAGAAACCAAAAAGATAGAATGGACTTTG___AAGCATTTTTTAGCCATCCTTTTCTTGAGCAAGGTCCAGTAAAAAAAT___CTTGCCCAGTTCCAGTGCCCATGTATTCTGGTTCTGTCTCTGGAAGCTCCTGTGGCAGCTCTCCATCTTGTCGTTTTGCTTCTCCACCA___TCCCTTCCAGATATGCAGCATATTCAGGAAGAAAACTTATCTTCCCCACCATTGGGTCCTCCCAACTATCTACAAGTTTCCAAAGATTCTGCCAGTACTAGTAGCAAGAACTCTTCTTGTGACACGGATGACTTTGTTTTGGTGCCACACAACATCTCGTCAGACCACTCAT___GTGATATGCCAGTGGGGACTGCTGGCAGACGTGCTTCAAATGAATTCTTGGTGTGTGGAGG___GCAGTGTCAGCCTACTGTGTCACCTCACAGCGAAACAGCACCAATTCCAGTTCCTACTCAAATAAGGAATTATCAGCGCATAGAGCAGAATCTTACATCTACTGCCAGCTCAGGCACAAATGTACATGGTTCTCCAAG___ATCTGCAGTGGTACGAAGGTCCAACACCAGCCCCATGGGCTTCCTCCGGCCGGGATCATGCTCCCCAGTACCAGCAGACACAGCACAGACAGTTGGACGAAGGCTCTCCACTGGGTCTTCTAGGCCTTACTCACCTTCCCCTTTGG___TTGGTACCATTCCTGAGCAATTCAGTCAGTGCTGCTGTGGGCATCCTCAGGGCCATGACTCCAGGAGTAGAAACTCCTCAG___GTTCTCCAGTGCCACAAGCTCAGTCCCCACAGTCTCTCTTATCGGGTGCTAGACTGCAGAGCGCCCCCACCCTCACTGACATCTATCAGAACAAGCAGAAGCTCAGAAAACAGCACTCTGACCCCGTGTGCCCATCCCATACTGGGGCTGGGTACAGCTACTCGCCTCAGCCCAGTCGGCCTGGCAGCCTTGGAACTTCTCCCACCAAGCACTTGGGGTCCTCTCCACGGAGTTCTGACTGGTTCTTTAAAACTCCTTTGCCAACAATCATTGGCTCTCCTACTAAG___ACCACAGCTCCTTTCAAAATCCCTAAAACTCAAGCATCTTCCAACCTGTTAGCCTTGGTTACTCGTCATGGGCCTGCTGAAGAACAGTCGAAAGATGGGAATGAGCCACGGGAATGTGCCCATTGCCTCTTAGTGCAAGGAAGTGAGAGGCAGCGGGCCGAGCAGCAGAGCAAGGCAGT)GTTTGGCAG___ATCTGTCAGTACCGGGAAGTTATCAGATCAACAAGGAAAGACTCCTATATGTCGACATCAGGGCAGCACAGACAGTTTAAATACAGAACGACCAATGGATATAG|ACGGGAACATTTAAAGGACAGAACGGTGAATATTTCTTAGAACCTATAATGAAGGCAGATGGGAATGAATATGAAGATGGTCACAACAAGCCACATCTTATATACAGACAAGACTTAAATAACTCTTTTCTGCAGACTCTGAAGTATTGCAGTGTGTCAG___AAAGTCAAATAAAGGAAACCAGTTTACCCTTTCATACCTACAGCAAC(ATGAATGAAGATCTTAATGTAATGAAAGAAAGAGTTTTAGGACACACATCAAAAAATGTACCATTGAAAGATGAAAGAAGACATTCCAGGAAAAAACGTCTTATATCATATCCAAGATACATTGAAATTATGGTTACAGCTGATGCTAAAGTGGTTTCTGCTCATGGATCGAATTTGCAAAACTATATACTGACTCTAATGTCAATT___GTTGCAACAATCTACAAAGATCCAAGTATTGGAAATTTGATACACATAGTAGTGGTAAAATTAGTTATGATTCACCGTGAGGAG___GAAGGACCAGTCATTAATTTTGATGGTGCTACCACATTAAAGAACTTTTGTTCATGGCAACAAACTCAGAATGACCTTGATGATGTTCACCCTTCCCACCATGACACTGCTGTTCTTATCACTAG___GGAAGACATTTGTTCATCTAAAGAGAAATGTAACATGTTAG___GTTTATCATATTTAGGTACCATATGTGATCCTTTACAAAGCTGCTTTATTAATGAAGAAAAAGGACTCATTTCTGCTTTTACTATAGCCCATGAGCTTGGGCACAC___ACTTGGTGTTCAACATGATGATAATCCTAGATGTAAAGAAATGAAAGTTACAAAGTATCATGTAATGGCCCCTGCTTTAAGTTTTCACATGAGTCCTTGGAGCTGGTCAAACTGTAGTCGGAAATATGTTACTGAATTCCTAGA___TACTGGTTACGGGGAATGTCTTCTTGACAAACCAGATGAAGAAATATATAATCTGCCTTCAGAACTTCCTGGATCACGATATGATGGAAACAAGCAGTGTGAGCTTGCGTTTGGTCCTGGGTCACAAATGTGTCCCCATATA___AATATATGCATGCATCTGTGGTGCACAAGCACAGAAAAGCTTCACAAAGGCTGTTTCACTCAACACGTGCCACCAGCAGATGGAACAGACTGCGGTCCTGGAATG___CATTGCCGTCATGGGCTATGTGTAAACAAAGAAACGGAAACACGTCCTGTAAATGGTGAATGGGGACCATGGGAACCTTACAGTTCTTGTTCAAGAACATGTGGAGGCGGAATCGAAAGTGCAACCAGGCGCTGTAATCGTCCTGA___GCCAAGAAACGGAGGAAATTACTGTGTGGGCCGCAGGATGAAATTTCGATCATGTAATACTGATTCATGTCCAAAAGGCACACAAGACTTTCGAGAGAAGCAGTGCTCTGATTTTAATGGTAAACATTTGGACATCAGTGGCATTCCCTCTAATGTGAGGTGGCTTCCAAGATACAGTGGCA___TTGGCACAAAGGATCGTTGTAAACTCTATTGTCAGGTTGCTGGAACCAATTATTTCTACCTATTGAAGGATATGGTTGAAGATGGTACTCCTTGTGGAACTGAAACTCATGACATCTGTGTTCAAGGCCAGTGTATG___GCAGCTGGTTGTGATCACGTGTTAAACTCCAGTGCCAAGATAGACAAATGTGGAGTGTGTGGTGGGGACAACTCTTCATGCAAGACAATAACAGGTGTCTTCAACAGTTCTCATTATG___GTTATAATGTTGTTGTAAAGATTCCCGCAGGAGCAACAAACGTTGACATTCGTCAGTACAGCTATTCTGGACAACCAGATGACAGTTACCTTG___CATTATCTGACGCTGAAGGGAATTTTCTTTTCAATGGAAATTTTCTTCTAAGTACGTCAAAAAAAGAAATCAATGTGCAAGGAACAAGAACTGTTATTGAATACAGTGGATCAAATAACGCAGTTGAAAGAATTAATAGTACTAATCGACAAGAGAAAGAACTTATTTTGCAG___GTGTTGTGTGTGGGTAATTTATACAACCCTGATGTACATTATTCCTTCAATATCCCTTTGGAAGAGAGGAGTGACATGTTCACATGGGACCCCTATGGACCATGGGAAGGCTGTACCAAAATGTGTCAAG___GTCTTCAGCGAAGAAACATAACTTGCATACATAAGAGTGATCATAGTGTTGTGTCTGATAAAGAATGTGACCACTTGCCACTTCCATCATTTGTTACTCAAAGTTGCAATACAGACTGTGAACTAAG___GTGGCATGTTATTGGCAAAAGTGAATGTTCATCCCAATGTGGTCAAGGATATAGAACCTTGGACATCCATTGCATGAAGTATTCCATTCATGAAGGACAGACTGTTCAAGTTGATGACCACTACTGTGGTGACCAGCTTAAACCTCCTACCCAAGAACTATGCCATGGTAACTGTGTCTTCACAAGATGGCATTATTCAGAATGGTCTCAG___TGTTCCAGGAGTTGTGGAGGAGGGGAAAGGTCTCGAGAATCTTATTGTATGAATAACTTTGGCCATCGTCTTGCTGACAATGAATGCCAAGAACTGTCCCGAGTGACGAGAGAGAATTGCAATGAATTTTCCTGTCCCAGTTGGGCTGCTAGTGAATGGAGCGAG___TGCCTTGTTACATGTGGTAAAGGAACAAAGCAGCGGCAGGTATGGTGTCAGCTGAATGTAGATCACTTGAGTGATGGCTTCTGTAATTCAAGTACCAAACCTGAATCTCTGAGTCCATGTGAACTTCATACATGTGCTTCCTGGCAAGTAGGACCATGGGGTCCT___TGCACAACCACATGTGGACATGGGTATCAGATGCGAGATGTTAAATGTGTCAATGAGCTAGCTAGTGCAGTGTTAGAGGACACAGAATGCCATGAAGCTAGTCGCCCCAGTGACAGACAG___AGCTGTGTACTTACACCTTGCTCATTTATTTCTAAACTTGAGACCGCTTTATTACCAACTGTTCTCATAAAAAAGATGGCACAATGGCGACATGGTTCTTGGACCCCA___TGCTCCGTATCTTGTGGAAGAGGTACTCAAGCCCGCTATGTAAGCTGTCGTGATGCTCTTGATAGAATAGCAGATGAATCATATTGTGCCCACTTACCCCGACCTGCTGAAATATGGGACTGTTTTACCCCTTGTGGAGAGTGGCAAGCAGGGGATTGGTCACCC___TGTTCAGCTTCCTGTGGCCATGGAAAAACAACTCGACAAGTTTTATGCATGAACTACCATCAGCCAATTGATGAGAATTACTGTGATCCTGAAGTTCGCCCTTTGATGGAACAGGAATGTAGCCTGGCAGCCTGCCCTCCTGCACACAGCCACTTTCCTAGTTCCCCTGTGCAGCCAAGCTATTATCTAAGCACGAATTTGCCATTAACTCAAAAACTTGAAGATAATGAAAATCAGGTGGTCCATCCATCAGTCAGAGGAAACCAGTGGAGAACCGGACCATGGGGATCA___TGCTCCAGCAGTTGTTCTGGAGGTCTTCAGCATAGGGCTGTGGTCTGCCAGGATGAAAATGGACAAAGTGCTAGTTACTGCGATGCAGCCTCCAAGCCTCCAGAGTTACAGCAATGTGGTCCAGGGCCTTGTCCACAGTGGAACTACGGAAATTGGGGAGAA___TGTTCACAAACATGTGGAGGAGGAATAAAATCAAGACTTGTAATATGTCAATTTCCCAATGGCCAAATATTAGAAGATCACAACTGTGAAATTGTAAACAAGCCACCTAGCGTAATACAGTGTCATATGCATGCTTGCCCTGCTGATGTGTCATGGCATCAGGAACCATGGACATCG___TGCTCAGCTTCTTGTGGTAAAGGTAGAAAGTACCGTGAAGTGTTTTGCATTGACCAATTCCAAAGGAAATTAGAAGACACAAATTGCAGTCAAGTACAGAAACCTCCAACTCACAAAGCCTGTAGATCTGTCAGATGCCCTTCATGGAAAGCCAATAGCTGGAATGAG___TGCTCTGTGACCTGTGGCTCTGGAGTTCAGCAGAGGGATGTATACTGCAGACTGAAAGGTGTTGGTCAGGTGGTTGAAGAAATGTGTGATCAGTCCACCCGACCTTGTTCTCAGAGGCGATGTTGGAGTCAGGACTGTGTGCAGCACAAGGGGATGGAAAGAGGGAGGCTGAAT___TGTTCAACATCATGTGAGAGAAAAGATTCACATCAACGAATGGAGTGCACAGATAACCAAATCAGACAAGTGAATGAAATAGTCTATAATTCTTCAACCATATCTCTTACATCCAAGAATTGCAGGAACCCTCCTTGCAATTACATTGTGGTAACAGCAGACTCATCACAG___TGTGCAAACAACTGTGGATTTAGTTACAGACAAAGGATTACATATTGCACCGAGATCCCATCTACTAAGAAACATAAGCTCCATCGACTTCGGCCTATAGTTTATCAAGAATGCCCTGTGGTGCCTTCCTCTCAGGTTTACCAATGCATTAACAGCTGTTTGCATTTGGCCACTTGGAAAGTTGGAAAATGGAGCAAG___TGCTCAGTGACTTGTGGAATTGGGATAATGAAGAGACAAGTGAAATGCATTACCAAACATGGTTTGTCCAGTGACTTATGTTTAAACCATTTAAAACCAGGTGCTCAAAAGAAATGTTATGCCAATGACT___GTAAATCATTTACCACCTGCAAAGAAATTCAAGTGAAAAACCACATTAGAAAGGATGGTGACTATTACCTTAACATTAAGGGAAGAATAATAAAG___ATTTATTGTGCAGACATGTACTTGGAGAACCCTAAGGAATATTTAACACTGGTCCAAGGTGAAGAAAACTTTTCTGAAGTGTATGGCTTTAG___ACTAAAAAATCCATATCAATGTCCTTTTAATGGGAGTAGAAGGGAAGACTGTGAATGTGACAATGGACACTTAGCTGCTGGATACACTGTTTTCAGCAAAATAAGAATTGATCTCACTTCCATGCAAATTAAAA___CTACGGACCTTCTTTTTTCCAAAACAATATTTGGAAATGCAGTTCCATTTGCCACAGCTGGAGATTGCTACAGTGCTTTCAGATGCCCACAG___GGACAGTTTAGCATTAATTTGTCAGGAACTGGGATGAAGATATCCAGCACAGCAAAGTGGCTCACTCAGGGGAGTTATACCTCTGTCAGCATACGAAGATCAGAG___GATGGAACTAGATTTTTCGGCAAATGTGGAGGGTACTGTGGAAAGTGTCTTCCTCACATGACTACTGGTCTCCCAATTCAAGTCATATGAACATTTAGAAGGGGGAAGTATGCCCTAAAGAGGGGATATTCTCTGGAATATTCAAATAACTGGTGCTCATTTCTTTATATCTCCCTTCCCGAGATTTCCATGTCCAATATGTCTCTGCCTTTTTTTCAGGGTGCTCATCAGGGATTCAAATCACTGCTTAATAAGGTCTATAAAAGAAATTTAAGAGCTATCTTAATTTATTTTATATCTAATCAGGATATTTTTTAAAGAACATAATAATTTATAATAGAGAATACCAGGATTGAATGAATTATACCAAGACAGTGTTGCTCTTAACATCTTGGCCTGGACCACACTTATTTTATACCTATAAACACACATG)$ MEVVGDFEYSKRDLVGHGAFAVVFRGRHRQKTDWEVAIKSINKKNLSKSQILLGKEIKILKELQHENIVALYDVQELPNSVFLVMEYCNGGDLADYLQAKGTLSEDTIRVFLHQIAAAMRILHSKGIIHRDLKPQNILLSYANRRKSSVSGIRIKIADFGFARYLHSNMMAATLCGSPMYMAPEVIMSQHYDAKADLWSIGTVIYQCLVGKPPFQANSPQDLRMFYEKNRSLMPSIPRETSPYLANLLLGLLQRNQKDRMDFEAFFSHPFLEQGPVKKSCPVPVPMYSGSVSGSSCGSSPSCRFASPPSLPDMQHIQEENLSSPPLGPPNYLQVSKDSASTSSKNSSCDTDDFVLVPHNISSDHSCDMPVGTAGRRASNEFLVCGGQCQPTVSPHSETAPIPVPTQIRNYQRIEQNLTSTASSGTNVHGSPRSAVVRRSNTSPMGFLRPGSCSPVPADTAQTVGRRLSTGSSRPYSPSPLVGTIPEQFSQCCCGHPQGHDSRSRNSSGSPVPQAQSPQSLLSGARLQSAPTLTDIYQNKQKLRKQHSDPVCPSHTGAGYSYSPQPSRPGSLGTSPTKHLGSSPRSSDWFFKTPLPTIIGSPTKTTAPFKIPKTQASSNLLALVTRHGPAEEQSKDGNEPRECAHCLLVQGSERQRAEQQSKAVFGRSVSTGKLSDQQGKTPICRHQGSTDSLNTERPMDI|dgni* 11BR020 ENSG00000054654.18 ENSG00000276685.1(36593),ENSG00000253425.2(483604) +/+ ./+ chr14:63954915 chr8:46065485 CDS/splice-site intergenic translocation 1 3 0 26 4 high out-of-frame . Calponin_homology_(CH)_domain(100%)| . . ENSG00000054654.18 . ENST00000344113.8 . downstream upstream . ^(GCCAAGGAGCGGAGCGCGCTCAGCTGCGCCCAGAGCCTTCGGCCGGACCTGAAAAAGCGAGAGGGAGAGCGAGCAAAAGGCGCGATCCAGAGAGCCAGGCAAGCGGGGCGCCGACCTCGGGCGGCCCCGGCCCGCGCCCTTGCCCCTCGGCCGGGCGGACG___TTCACTTCTTCAACTGAGATGGACATGATATAATCTCCATTGAGTCAAAGAATGGCATCTAGTCCTGAGCTTCCCACCGAAGATGAACAGGGTTCCTGGGGCATCGACGATCTCCATATTTCATTGCAAG___CTGAACAGGAAGACACCCAGAAGAAAGCCTTCACGTGCTGGATAAACTCACAGTTGGCCAGG___CACACTTCTCCCTCAGTTATATCCGACCTATTCACAGACATTAAAAAGGGGCATGTCCTCCTGGATCTGCTAGAAGTACTTTCTGGGCAACAGTTG___CCTCGGGATAAAGGATCTAATACCTTCCAGTGTAGAATCAATATAGAACATGCCTTGACATTCCTAAGAAACCGATCA___ATTAAGCTAATAAATATTCATGTTACTGATATCATTGATGGAAACCCATCCATTATCCTTGGCCTAATTTGGACAATTATCCTGCACTTTCAT___ATTGAGAAGCTTGCCCAGACTCTTTCTTGCAATTACAATCAGCCTTCCCTGGATGATGTGAGTGTGGTTGACTCATCTCCTGCCTCAAGTCCTCCAGCTAAGAAATGCTCTAAAGTGCAAGCAAGATGGCAAATGTCTGCAAGAAAGGCCCTTCTTTTGTGGGCTCAGGAACAATGCGCCAC___CTATGAGTCTGTCAATGTGACCGATTTTAAGTCAAGTTGGAGAAATGGGATGGCTTTTTTGGCCATCATTCATGCCTTGCGACCAGACCTAATTGACATGAAGAGT)GTGAAGCATAGATCCAACAAAGACAATCTGAGAGAGGCCTTCAGAATTGCAGAACAAGAATTAAAAATCCCCAGATTGCTGGAACCAGAAG|AATCTGTGCAGGGACATTTTGGAGTGCACTGAGGCCTACAGTGAAAAACTGAATACCCCACTATAAAAACTAGAAAGAAG___CAGGTTGGAAACACTGTTATAGAAGA...___GTTGGAAACCATCTTCTTGTTGAATCTGCAAAGGGAC MASSPELPTEDEQGSWGIDDLHISLQAEQEDTQKKAFTCWINSQLARHTSPSVISDLFTDIKKGHVLLDLLEVLSGQQLPRDKGSNTFQCRINIEHALTFLRNRSIKLINIHVTDIIDGNPSIILGLIWTIILHFHIEKLAQTLSCNYNQPSLDDVSVVDSSPASSPPAKKCSKVQARWQMSARKALLLWAQEQCATYESVNVTDFKSSWRNGMAFLAIIHALRPDLIDMKSVKHRSNKDNLREAFRIAEQELKIPRLLEPE|esvqghfgvh* 11BR020 ENSG00000156256.15 ENSG00000197779.13(50557),ENSG00000147118.12(2038) +/+ ./+ chr21:29037463 chrX:47972813 CDS/splice-site intergenic translocation 2 2 0 91 15 high out-of-frame . Ubiquitin_carboxyl-terminal_hydrolase(100%),Zn-finger_in_ubiquitin-hydrolases_and_other_protein(100%)| . . ENSG00000156256.15 . ENST00000399975.7 . downstream upstream . ^(ATAATGCCGCGTTCCGGAAGTTATTGCTTTCCAGGGGTCACTCTGGCTTCGACTCCGTCGCTCTCAATTCGTCACCAGGAGGAAGACGGAGCTGGCTGCCCAGCCCAAAGGCCCATGAGGGGATGCAGTTATGGGCTCTGTCGCCGTGG___ATTGTTATTTTGTGTCAGTAAGTAATCCATAAAGTGCCAACATGGGAAAGAAACGGACAAAGGGAAAAACTGTTCCAATCGATGATTCCTCTGAAACTTTAG___AACCTGTGTGCAGACACATTAGAAAAGGATTGGAACAAGGTAATTTGAAAAAGGCTTTAGTGAATGTGGAATGGAATATCTGCCAAGACTGTAAGACTGACAATAAAGTGAAAGATAAAGCTGAAGAAGAAACAGAAGAAAAGCCTTCAGTTTGGCTGTGTCTTAAATGTGGCCATCAG___GGCTGTGGCAGAAATTCTCAGGAGCAGCATGCCTTGAAGCACTATCTGACGCCAAGATCTGAACCTCACTGTCTGGTTCTTAGTTTGGACAACTGGAGTGTATG___GTGTTACGTATGTGATAATGAGGTCCAGTATTGTAGTTCAAACCAGTTGGGTCAAGTGGTTGATTA)TGTCAGAAAACAAGCCAGCATTACAACTCCAAAGCCAG___AGAAAGATAATGGAAATATTGAACTTGAAAATAAAAAATTAGAAAAAGAGAGTAAGAATGAACAAGAGAGAGAAAAGAAGGAAAACATGGCTAAAGAGAATCCTCCCATGAATTCTCCTTGCCAAATAACCGTGAAAGGACTCAGTAATTTGGGAAACACATGTTTCTTCAATGCAGTTATGCAG|GCTGTACAGGAAGCATGGAAGCATCTGCTTCCAGGGAGGCCTGAGGGAGCTTTTACTCATGGCAGAAGGCAAAGAGGGAACAGGCATCTTACATGGCAGGAGCAGGAGGAAGAAAGGAAGAAGGTGCTACACACGTTTACAC MGKKRTKGKTVPIDDSSETLEPVCRHIRKGLEQGNLKKALVNVEWNICQDCKTDNKVKDKAEEETEEKPSVWLCLKCGHQGCGRNSQEQHALKHYLTPRSEPHCLVLSLDNWSVWCYVCDNEVQYCSSNQLGQVVDYVRKQASITTPKPEKDNGNIELENKKLEKESKNEQEREKKENMAKENPPMNSPCQITVKGLSNLGNTCFFNAVMQ|avqeawkhllpgrpegafthgrrqrgnrhltwqeqeeerkkvlhtft 11BR020 ENSG00000117899.11 ENSG00000166233.15 -/- +/- chr15:80989579 chr15:72581893 CDS/splice-site intron deletion/5'-5' 1 2 0 255 6 high out-of-frame . . . . ENSG00000117899.11 ENSG00000166233.15 ENST00000561312.5 . upstream downstream . ^(GGTAAGCGCGTCTAGGGCGCTGCGCGGCGCAGCGAAAATGGCGGCTTCCAGGTGGGCGCGCAAGGCCGTGGTCCTGCTTTGTGCCTCTGACCTGCTGCTGCTGCTGCTACTGCTACCACCGCCTGGGTCCTGCGCGGCCGAAGGCTCGCCCGGGACGCCCGACGAGT)CTACCCCACCTCCCCGGAAGAAGAAGAAGGATATTCGCGATTACAATGATGCAGACATGGCGCGTCTTCTGGAGCAATGGGAG|AACAATTTTTTAAATGTTAAAAGAACGAAAGATTTCACCCATTACTTTTGGAAGAATACTGAAGACCATTTGAAAGGATTTAAAATGTCTTTTGGAATCTTCTCGTTCTGAGAGCTGCTCTTTGCTGAAAACTCAAAG___ACCGTATATGGTACCATTCACATTGAGAGAAATGTAAACAAACGTAAAGATGCACACGGTAC MAASRWARKAVVLLCASDLLLLLLLLPPPGSCAAEGSPGTPDESTPPPRKKKKDIRDYNDADMARLLEQWE|nnflnvkrtkdfthyfwkntedhlkgfkmsfgifsf* 11BR020 ENSG00000143183.16 ENSG00000152061.23 -/- +/+ chr1:165726998 chr1:174957457 3'UTR CDS/splice-site inversion 1 1 0 11 69 high in-frame . . . . ENSG00000143183.16 ENSG00000152061.23 ENST00000612311.4 ENST00000251507.8 upstream upstream mismappers(1) ^(ACGAGCCTTTCCGGTGCTATGCCCCGGAAGCGGAAGTGCGATCTTCGGGCTGTCAGAGTTGGTCTGTTACTCGGTGGTGGCGGAGTCTACGGAAGCCGTTTTCGCTTCACTTTTCCTGGCTGTAGAGCGCTTTCCCCCTGGCGGGTGAGAGTGCAGAGACGAAGGTGCGAGATGAGCACTATGTTCGCGGACACTCTCCTCATCGTTTTTATCTCTGTGTGCACGGCTCTGCTCGCAGAGG___GCATAACCTGGGTCCTGGTTTACAGGACAGACAAGTACAAGAGACTGAAGGCAGAAGTGGAAAAACAGAGTAAAAAAT___TGGAAAAGAAGAAGGAAACAATAACAGAGTCAGCTGGTCGACAACAGAAAAAGAAAATAG___AGAGACAAGAAGAGAAACTGAAGAATAACAACAGAGATCTATCAATG___GTTCGAATGAAATCCATGTTTGCTATTGGCTTTTGTTTTACTGCCCTAATGGGAATGTTCAATTCCAT___ATTTGATGGTAGAGTGGTGGCAAAGCTTCCTTTTACCCCTCTTTCTTACATCCAAGGACTGTCTCATCGAAATCTGCTGGGAGATGACACCACAGACTGTTCCTTCATTTTCCTGTATATTCTCTGTACTATGTCGATTCGACAG___AACATT)CAGAAGATTCTCGGCCTTGCCCCTTCACGAGCCGCCACCAAGCAGGgAG___AAGGATGTTTGTACCATGATCCTCCCCGCATAATCTATGGAATTAGGAGTCCTGTGTGGAGTCTTATCAATAAATATGCACATTCATCAAATGTCTACTTAAAT|GTACCAACCAAGAAGCTGAAGAAATATGAGAAAGAATATCAGACAATGCGAGAGAGTCAGCTGCAACAGGAAGACCCAATGGATAGATACAAG___TTTGTATATTTGTAGGTAACTCCAGCTGTTGCATTTATACTGGGAATCTTCATAAGAAGCTGAGAGAAAGAGAGG(GGAAAAAGAAAGTGGCTTTCTACTTTCAAAAATGAAACAAAAAGGAAAAATGGCAAAGTACTGTTTTAGCTGTGCATGTCATATCCACAAAGACTTTTAGCAGGTGAACTGTTCCAAGACTGACACAAGGATGTTTCAAACTTGCCTCTGTCTGTAGAAAATGTTAAAAATACCAACTCACTTGGAAGGAAAAATAAAAATCACAAAGGTATATTGA)$ MPRKRKCDLRAVRVGLLLGGGGVYGSRFRFTFPGCRALSPWRVRVQRRRCEMSTMFADTLLIVFISVCTALLAEGITWVLVYRTDKYKRLKAEVEKQSKKLEKKKETITESAGRQQKKKIERQEEKLKNNNRDLSMVRMKSMFAIGFCFTALMGMFNSIFDGRVVAKLPFTPLSYIQGLSHRNLLGDDTTDCSFIFLYILCTMSIRQNIQKILGLAPSRAATKQgegclyhdppriiygirspvwslinkyahssnvyln|VPTKKLKKYEKEYQTMRESQLQQEDPMDRYKFVYL* 11BR020 ENSG00000105726.17(4053),ENSG00000181896.12(1110) ENSG00000138629.16 ./- -/- chr19:19667729 chr15:74449274 intergenic CDS translocation 2 137 7 206 478 medium . . |UBA/TS-N_domain(100%) . . . ENSG00000138629.16 . ENST00000361351.8 upstream downstream duplicates(6) CCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCGTGATCCGCCGGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCGCCTCCTGCTTCTTTTTCCGGAACACCGGTCACATGAGTGTGCACGGAATTCCAGACTCCGTGTTCAGTGAAGCCA|GGCCCATCACCCAGAGTGAGCTGGCCACCGCCTTGGCCCTGGCCAGCACTCCGGAGAGCAGCTCTCACACACCGACTCCTGGCACCCAG___GGTCATTCCTCAGGGACCTCACCAATGTCCTCTGGTGTCCAGTCAGGGACGCCCATCACCAATGATCTCTTCAGCCAAG(CCCTACAGCATGCCCTTCAGGCCTCTGGGCAGCCCAGCCTTCAG___AGCCAGTGGCAGCCCCAGCTGCAGCAGCTACGTGACATGGGCATCCAGGACGATGAGCTGAGCCTGCGGGCCCTGCAGGCCACCGGTGGGGACATCCAAGCAGCCCTGGAGCTCATCTTTGCTGGAGGAGCCCCATGAACTCCCTGCTTCCCCTGAACCCCCAGCAAGTTGCAGAGGCTACTGCCCTTGGGAGGCACTCATGAAGGTGCCTCCATCTCTCCCTTCCCCAATATACCTGATGGTCAACTCTC)$ . 11BR020 ENSG00000237296.9 ENSG00000243716.10 +/+ +/+ chr16:22491786 chr16:22513522 exon 5'UTR deletion/read-through 5 7 0 87 181 medium . . |Nuclear_pore_complex_interacting_protein_(NPIP)(100%) . . ENSG00000237296.9 ENSG00000243716.10 ENST00000309865.11 ENST00000517539.5 downstream upstream mismatches(1) ^(ATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCGGCGGCGGCGGCACCAACGGCACCAACTATTCGCGGAGCTGGAATGACTGGCAACCCAG___AACTGATAGTGCATCAGCCGACCCAGGTAATTTAAAATATTCTTCATCCAGAGATAGAGGTGGTTCTTCCTCTTACGGACTGCAACCTTCAAATTCAGCTGTGGTGTCTCGGCAAAGGCACGATGATACCAGAGTCCACGCTGACATACAGAATGACGAAAAGG___GTGGCTACGGTGTCAATGGGGGATCTGGGGAAAATACTTATGGTCGGAAGTCATTGGGGCAAGAGCTGAGGGTTAACAATGTGACCAGCCCTGAGTTCACCAGTGTTCAGCATGGCAGTTGTGCTTTAGCCACCAAAGACATGAGGAAATCACAGG___AGAGATCGATGTCTTATTGTGATGAGTCTCGACTGTCATATCTTCTTCGGAGGATCACCCGGGAAAACGACCGAGACCGAAGATTGGCTACTGTAAAGCAGTTGAAAGAATTTATTCAGCAACCAGAAAATAAGCTG___GTACTAGTTAAACAATTGGATATCTTGGCTGCTGTACATGATGTGCTTAATGAAAG___TAGCAAATTGCTTCAGGAGTTGAGACAGGAGGGAGCTTGCTGTCTCGGCCTTCTTTGTGCTTCTCTGAGCTATGAGGCTGAGAAGATCTTCAAGTGGATTTTTAGCAAATTTAGCTCATCTGCAAAAGATGAAGTTAAACTCCTCTACTTATGTGCCACCTACAAAGCACTAGAGACTGTAGGAGAAAAGAAAGCCTTTTCATCTGTAATGCAG___CTTGTAATGACCAGCCTGCAGTCAATTCTTGAAAATGTGGATACACCAGAATTGCTTTGCAAATGTGTTAAGTGCATTCTTTTGGTGGCTCGATGTTACCCTCATATTTTCAGCACTAATTTTAGG___GATACAGTTGGTATATTAGTTGGATGGCATAGAGATCATACTCAGAAACCTTCGCTCACGCAGCAGGTATCTG___GGTGGTTGCAGAGTTTGGAGCCATTTTGGGTAGCTGATCTTGCATTTTCTACGCCTCTACTTGGTCAGTTTCTAGAAGACATGGAAGCATATGCTGAG___GACCTCAGCCATGTGGCCGCTGGGGAATCAGTGGATGAAGACGTCCCTCCTCCATCAGTGTCATTACCAAAGCTGGCTGCGCTTCTCCGGGTATTTAGTACTGTGGTGAGGAGCACTGGGGAAAGCCTCAGCCCAATTCGGGCCCTCCAATTACTGAGGCATACGTAACAGAT___GTTCTGTACAGAGTAATGAGATGTGTGACGGCTGCAAACCAGGTGTTTTTTTCTGAGGCTGTGTTGACAGCTGCTAATGAGCGTGTTGGTGTTTTGCTCGGCAGCTTGGATCCTAGCATGACTATACATTGTGACATGGTCATTACATATGGATTAGACCAACTGGAGAATTGCCAGACTTGTGGTACCGATTATATCATCTCAGTCTTGAATTTACTCACGCTG___ATTGTTGAACAGATAAATACGAAACTGCCATCATCATTTGTAGAAAAACTGTTTATACCATCATCTAAACTACTATTCTTGCGTTATCATAAAGAAAAAGAG___GTTGTTGCTGTAGCCCGTGCTGTTTATCAAGCAGTGCTCAGCTTGAAGAATATTCCTGTTTTGGAGACTGCCTATAAGTTAATATTGGGAGAAATGACTTGTGCCCTAAACAACCTCCTGCACAGTCTGCAGCTTCCTGAGTCCTGTTCTGAAATAAAACATGAGGCTTTTAAGAATCATGTGTTCAATGTAGACAATGCAAAATTTGTAGTTAAATTTGACCTCAGTGCCCTGACTACAATTGGAAATGCCAAAAACTCACTAATAGGG___ATGTGGGCGCTATCTCCAACTGTCTTTGCACTTCTGAGTAAGAATCTGATGATTGTGCACAGTGACCTGGCTGTTCACTTCCCTGCCATTCAGTATGCTGTGCTCTACACATTGTATCCTCATTGTACCAG___GCATGATCACTTTATCTTTAGTAGCCTCAGTTCTTCCTCTCCTTCTTTGTTTGATGGAGCTGTGATTGGCACTGTAACTATGGCCACAAAGAAACATTTCTCAATTATATTAAATCTTCTGGGAATGTTACTTAAGAAAGATAACCAGGACACGAG___GAAACTGTTAATGACTTGGGCTTTGGAAGTAGCTGTTGTAATGAAGAAGTCCGAAACATATGCACCTTTATTCTGTCTTCCGTCTTTCCATAAATTTTGCAAAGGCCTTTTAGCCGACA___CTCTCGTTGAAGATGTGAATATCTGTCTGCAGGCATGCAGCAGTCTACATGCTCTATCCTCTTCCTTGCCAGATGATCTTTTACAGAG___ATGTGTTGATGTTTGCCGTGTCCAACTAGTGCACCGTGGAACTTGTATTCGACAAGCATTTGGAAAACTGTTGAAATCAATTCCTTTAGGTGTTTTCCTAAG___CGATAACAATCACACAGAAATTCAAGAAATTTCTTTAGCATTAAGAAGTCACATGAGTAAAGCACCAAGTAATACATTCCACCCCCAAGATTTCTCTGATGTTATTAGTTTTATTTTGTATGGGAACTCTCATAGAACAGG___GAAGGACAATTGGTTGGAAAGACTGTTCTATAGCTGCCAGAGACTGGATAAGCGTGACCAGTCAACAATTCCACGCAATCTCCTGAAGACAGATGCTATCCTTTGGCAGTGGGCCATATGGGAAGCTGCACAATTCACTGTTCTTTCTAAGCTGAGAACCCCACTGGGCAGAGCTCAAGACACCTTCCAGACAATTGAAG___GTATCATTCGAAGTCTCGCAGGTCACACATTAAACCCTGATCAGGATGTTAGTCAGTGGACAACTGCAGACAGTGATGAAGGCCATGGTAACAACCAACTTAGACTTGTTCTTCTTCTGCAGTATCTGGAAAATCTGGAGAAATTAATGTATAATGCATACGAGGGATGTGCTAATGCCTTAACTTCACCTCCCAAG___GTCATTAGAACTTTTTTGTATACCAATCGCCAAACTTGTCAGGACTGGCTAACGCGGATTCGACTCTCCATCATGAGGGTAGGATTGTTGGCAGGCCAGCCTGCAGTGACAGTGAGACATGGCTTTGACTTGCTTACAGAGATGAAAACAACCAGCCTATCTCAG___GGGAATGAATTGGAAGTAAGCATTATGATGGTGGTAGAAGCACTATGTGAACTTCATTGTCCTGAAGCTATACAGGGAATTGCTGTCTGGTCATCATCTATTGTTGGAAAACATCTTCTGTGGATTAACTCAGTGGCTCAACAGGCTGAAGGGAG___GTTTGAAAAGGCCTCTGTGGAGTACCAGGAACACCTGTGTGCCATGACAGGTGTTGATTGCTGCATCTCCAGCTTTGACAAATCGGTGCTCACCTTAGCCAGTGCTGGGTGTAAGAGTGCCAGCCTGAAACATTGTCTGAATG___GTGAATCCAGAAAAAGTGTGCTGTCCAAACCGACTGACTCTTCCCCTGAGGTTATAAATTATTTAGGAAACAAAGCATGTGAGTGCTACATCTCAACTGCCGATTGGGCTGCTGTGCAGGAATGGCAGAACGCTATCCATGACTTGAAAAAGAGTACCAGTAGCACTTCCCTCAACCTGAAAGCTGACTTCAACTATATAAA___ATCATTAAGCAGCTTTGAGTCTGGAAAATTTGTCGAATGTACCGAGCAATTAGAATTGTTACCAGGAGAAAATATCAATCTACTTGCTGGAGGATCAAAAGAAAAAATAG___ACATGAAAAAACTGCTTCGTAACATGTGAAGTCCAGATCCAAGGGAACCTCAGAAATCCATTGAAGTTCCATTGTTAAGAAGTTCTGTTTGTTTGGCAACTGCTTTAAACCCGATAGAACAAGATCAGAAGTGGCAGTCTATAACTGA___AAATGTGGTAAAGTACTTGAAGCAAACATCCCGCATCGCTATTGGACCTCTGAGACTTTCTACTTTAACAGTTTCACAGTCTTTGCCA)GTTCTAAGTACCTTGCAGCTGTATTGCTCGTCTGCTTTGGAGACCACAGTTTCTAACAGACTTTCAACAGAG___GACTGTCTTATTCCACTCTTCGGCGAAGCTTTACGTTCATGTAAACAGCATGACGTGAGGCCGTGGATGCAGGCATTAAG|GTATGATCTCGTGAAATCTTGAGAGAAACTGAATGACGAATGAAACTATTGTTCCTGTTTCACACAGAAGAAAACTGAG___GTTGGCACTCATCATGAGCCCCTGTTCTCATTCTGCAAATGGTGAAGCTCTCTATTGTCCTGAC(CCCACAGTTCCTGTCCCATGACCAGGGCCAGCTCACCAAGGAGCTGCAGCAGCATGTAAAGTCAGTGACATGCCCATGCGAGTACCTGAGGAAG___GTTATCAATACTCTGGCTGACCATCATCATCGTGGGACTGACTTTGGTGGAAGTCCTTGGTTACATGTCATTATTGCGTTTCCGACAAGTTATAAAGTTGTCATTACCCTCTGGATAGTTTACCTTTGG___GTGTCTCTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATGGATCCACGGATGTACAGCAGAGAGCCTGGAGGTCCAACCGCCGTAGACAGGAAG___GGCTGAGGTCCATTTGTATGCACACAAAGAAAAGAGTTTCTTCCTTTCGAGGAAATAAAATTGGCCTGAAAGACGTCATTACTCTACGGAGACATGTGGAAACAAAAGTTAGAGCTAAAATCCGTAAGAGGAAGGTGACAACGAAAATCAACCATCATGACAAAATCAATGGAAAGAGGAAGACCGCCAGAAAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGCGGCGAGCAGAGGACTACCACAAATGCAAA___ATCCCCCCTTCTGCAAGAAAGGCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCACCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTGTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTGTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCTGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCTACCCTCAGCTCCACCCTCAGCGGATGATAATCTCAAGACACGTGCCGAGTGTCTGCTCCATCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCTGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTGCCCTTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCTTCCACCCTCAGCGGATGATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGATACCTGCTGAGCGTCTGCGGATTCCGCTTCCACCATCAGCCGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTGAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCAGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCAGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCTTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCCGATGATAATCTCAAGACACCTCCCTTAGCTACTCAGGAGGCTGAGGCAGAAAAACCACGCAAACCCAAGAGGCAGAGGGCGGCTGAGATGGAACCACCTCCCGAACCCAAGAGGCGGAGGGTCGGTGACGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATCACCCGAACCCAAGAGGCGGAGGGTCGGTGATGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATCACCCGAACCCAAGAGGCGGAGGGTCGGTGACGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATTACCCGAACCCAAGAGGCGGAGGTTGAGCTGAGAAGAGGCCAGTGCACTCAAGCCTGAGCAATAAGAATAAAACCGAGTAGAACAAAATAAAAAATTCAAAAAACAAAACAAAACCCACACTCC)$ . 11BR020 ENSG00000012211.13 ENSG00000187754.9 -/- -/+ chrX:49178107 chrX:52653735 CDS intron inversion/5'-5' 2 10 0 39 15 medium out-of-frame . LIM_domain(77%),PET_Domain(100%)| . . ENSG00000012211.13 ENSG00000187754.9 ENST00000599218.6 . upstream upstream . ^(GGACGCGCGGTGGCCTGACGGTCGCAAGGATTACATTCGCCTGACCCGGCCCGGCTTGACCCTGCCCGGGCGCGCCATGTTCGCGCGTGGGTCCCGGAGGCGCCGCTCCGGGCGTGCG___CCTCCAGAGGCAGAGGACCCAGACCGGGGCCAGCCCTGCAACTCCTGTAGGGAGCAGTGCCCTGGCTTCCTGCTCCACGGCTGGAG___AAAGATCTGCCAGCATTGCAAATGCCCGCGGGAGGAGCATGCAGTGCACGCGGTGCCTGTGGACCTGGAACGCATCATGTGTCGGCTAATCTCGGACTTCCAGCGCCACTCCATCTCCGACGACGACTCAGGCTGTGCATCGGAGGAGTATGCCTGGGTGCCCCCAGGCCTTAAGCCGGAGCAG___GTATATCAATTTTTCAGCTGCCTCCCAGAGGACAAGGTCCCCTACGTCAACAGTCCTGGGGAGAAATACAGGATCAAGCAGCTGCTGCACCAGCTGCCCCCACACGACAGTGAG___GCACAGTACTGCACAGCACTGGAAGAGGAGGAAAAGAAAGAGCTCCGAGCCTTTAGCCAGCAGCGGAAGCGGGAGAATCTGGGGCGTGGCATCGTGCGCATCTTCCCGGTGACCATCACTGGGGCCATCTGTGAGGAG___TGCGGAAAGCAGATTGGAGGTGGGGACATCGCAGTGTTTGCCAGCCGTGCAGGCCTGGGTGCCTGCTGGCACCCACAGTGCTTCGTGTGTACCACGTGCCAGGAACTGCTGGTTGACCTCATCTACTTCTACCATGTTGGCAAGGTCTACTGCGGGCGTC)ACCATGCCGAATGCCTGCGTCCACGCTGCCAAGCCTGTGACGAGGTTTGGGCCTCCCTGCCCAGGGGTGGGAGTTGAGGGTGGGCAGGGCCAGGAGCAGGCTCATCTGACAGCCACAGATGGCCTGCGCCCTCCAGATCATCTTCTCCCCTGAGTGCACGGAGGCTGAGGGCCGCCACTGGCACATGGATCACTTCTGCTGCTTTGAG|c|CTTTGGGAGGGGGTTGGCTAATGTTGTTAGTAGTTTCCCTGGGGCTAGCCTTACTCTGAAAGATGTACAGACCCTTGTTGGGAAGGCAGAGATGTGACTGTGTAATTTTATTCAGTGGGGGCATGCTGACACCCCGACTCAATAAATAATGGAA...GATAGGGGGTTCTGTTCTGTTGAAGAGAAATGAGCATGGCTAATATGAACGGATTTAGAGGCTATTACTGGGTGATTTGTAAATTATTAGAAGAAGAGAGCTAGAATTTCTGAGACTACAAGAGCCCGCCATCACTTAGAGAGAATGTAG MFARGSRRRRSGRAPPEAEDPDRGQPCNSCREQCPGFLLHGWRKICQHCKCPREEHAVHAVPVDLERIMCRLISDFQRHSISDDDSGCASEEYAWVPPGLKPEQVYQFFSCLPEDKVPYVNSPGEKYRIKQLLHQLPPHDSEAQYCTALEEEEKKELRAFSQQRKRENLGRGIVRIFPVTITGAICEECGKQIGGGDIAVFASRAGLGACWHPQCFVCTTCQELLVDLIYFYHVGKVYCGRHHAECLRPRCQACDEvwaslprggs*gwagpgagssdshrwpapsRSSSPLSARRLRAATGTWITSAALs|lwegvg* 11BR020 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 5 7 0 16 431 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream duplicates(1),mismatches(1) ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCC)GCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGAC(CCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 11BR020 ENSG00000160959.8 ENSG00000168079.17 +/+ -/+ chr8:144523964 chr8:27913677 3'UTR intron duplication/5'-5' 7 3 0 87 4 medium stop-codon . Leucine_Rich_repeat(100%)| . . ENSG00000160959.8 ENSG00000168079.17 ENST00000292524.6 . downstream upstream . ^(GGCGGACGGTCTAGGCGGGGCTGGAGGCGGTGGCTGCGGTTGCGGGACCG___GCACTATGCTGGGCCTTCCTACCACTTGTGTGTGGCTTGGTAGTGGCCTAGGGTCTCTCCTCCCTGCTGAAGTCCCTCTCCTGCAGGTGGCCGTCTGCCCGGCCCAGCACCATGCACACGCTTGTGTTCTTGAGCACACGGCAGGTGCTGCAGTGCCAGCCAGCTGCCTGCCAGGCCCTGCCCTTGCTGCCACGCGAACTCTTCCCCCTGCTGTTCAAGGTGGCCTTCATGGACAAGAAGACAGTGGTACTGCGCGAGTTGGTACACACGTGGCCCTTCCCGCTGCTCAGTTTCCAGCAGCTGCTACAGGAGTGTGCCCACTGCAGCCGTGCCCTCCTGCAGGAGCGGCCTAGCACTGAGAGCATGCAGGCTGTTATCCTGGGGCTGACTGCCCGGCTCCACACCTCAGAGCCTGGGGCCAGCACACAGCCCCTCTGCAG___GAAGCATGCGCTGCGGGTGCTGGACATGACGGGCCTCTTGGATGATGGTGTGGAACAGGATCCTGGCACCATGAGCATGTGGGACTGTACTGCTGCCGTAGCTCGCACATGCATTGCCCAGCAGCAGGGTGGGGCCGCAGAGCCTGGGCCAGCCCCCATCCCCGTGGAGGTGCGCGTGGACCTGCGGGTGAACCGGGCCTCCTATGCGTTCCTGCGGGAGGCACTCCGAAGCAGCGTGGGCAGCCCGCTGCGGCTCTGCTGCCGGGACCTGCGAGCTGAGGACCTGCCCATGCGCAACACTGTGGCCCTGCTGCAGCTTCTGGATGCAGGCTGCCTGCGCCGCGTGGACCTGCGCTTCAACAATCTGGGCCTGCGCGGCCTGTCTGTGATCATCCCACACGTGGCCCGCTTCCAGCACCTGGCCAGCCTGCGGCTCCACTATGTGCATGGGGATTCAAGGCAGCCCTCCGTGGATGGCGAGGACAACTTCCGCTACTTCCTTGCCCAGATGGGCCGCTTCACCTGTCTGCGTGAGCTCAGCATGGGCTCCTCTCTCCTTTCAGGGAGGCTGGACCAGCTGCTCAG___CACCCTGCAGAGCCCCCTGGAGAGCCTGGAGTTGGCCTTCTGTGCTCTGCTGCCTGAGGACCTACGCTTCCTGGCACGGAGCCCACATGCTGCCCACCTCAAGAAGTTGGACCTGAGTGGTAACGACCTGTCTGGCAGCCAGCTGGCACCCTTCCAGGGTCTGTTGCAGGCATCAGCAGCCACACTGTTGCATCTGGAGCTGACTGAGTGTCAGCTCGCAGACACCCAGCTGTTGGCCACACTACCCATCCTGACTCAGTGCGCCAGTCTCCGGTACCTTGGCCTCTATGGCAACCCACTGTCCATGGCGGGCCTCAAGGAGCTGCTGCGGGACTCAGTGGCACAGGCTGAGCTGCGTACTGTGGTGCACCCCTTCCCTGTGGACTGCTATGAGGGCTTGCCCTGGCCGCCGCCTGCCTCTGTCCTGCTGGAGGCCTCCATCAATGAGGAGAAGTTTGCCCGCGTAGAAGCTGAGTTGCACCAGCTGCTTCTAGCCTCAGGCCGTGCCCATGTGCTCTGGACCACGGACATCTACGGGCGACTGGCTGCGGACTACTTCAGCCTATGATGAAGTAGCTCTGGGTGAGACACAGGCCGCCCTGCAGTCTCTTTAGGTAGGCAGGGCCTTTGCTGGGACCCCTGGTGGAGGCCTTCACAAAAGCACTGGTTACTGGTTTCCTGCTGGGTCTACCTTGCTTCTGGGCACACCTCAAGCCTCCCCTGCTTTCTGCAGTGCCCCACGCGGTTTTCCCTGCACTTGCTCCATAATTGGCTGATCATCTGTGGGCCCCGGGGCTGGATGTCAGGCCTCCATTGCCCTGCTCAGTTTGGCTGCATTTGGCTGCCGTCTGGGGTCCTGGTCCTTTGTGCAAATGCTTTGGGATTCCAGTTGTGAGCTGAGAGAGATGATGGCCTCTCTGGGCCTTTCCTCTCCCTTTACTGAGAGCTCAGTGCTTCTGGGGTTGAAGTTGGACAGAGGCCTGCTTCAGGGAAGCTGGGAGTCCCCAGGCACTCACGCCTCTTACGTGTTCCCTACCCTGCCACCCAGCCACCCCACTGGGCTGGGCTCGGGCTGGAGGGGGTCATCAAGGTACACATGTGCCTGGAAGTTGAATTTGTGGCTGTTTTTTTTTCTGTCCACGTTGGTCACCCTTATCCTTATCTCTGCTGTCACCCCCAACATGGCCACCCGGCAACAACTGCCATCCAGCCTGTCGCCCCGCCCTTCGCGGGGCAGCCCCGTCGGCACTGCCGGCCAGTCCTTGCTCTTCCCACCTTTCGGAGGCCCAAGATCCTACTGTGGCCGGCCAGGGCCAGCGAGGGACCCCCCCCATGCAGAGCTGGAGGTTGGGGTGATGTCTTTTCGGAAGAGCTTCAAGGGAGGTGTTGGGGCCTCCCCGGCCACCTTCCATTGCTACCCCAGGATTCCCGAGTGCAACGTTCCCGGCTCGCGCCCCACACACGGCTCAGCGCACACTGCGCGGCTTCCACCTTTACTGACGGAGCATGCGCGAGGCCGCACCGGCCAATCTCCGGCGCCCACGTCATCCGCGCGCCCGCGGCCCTAGCAGTGGATCTCGTAGGCGACCGGCGGGGGCACGCGGAGTCCCGGCCCCGCCCCCTGTTCCGGGCCGCAGTCAGCGGGCGCCTCCGCCGGACCCTCGGCGAAGAGCGGCTTGGAGCGGTTGATGACGAACATCTCGTGGCCGCGCTCGTCGCGGAGCTCCTCTAGCTGTGCGAACGTACAGGGGCCGTCCAAGTAGTCGTTGACGAACAGCGCTCCCTCCCCCGGAGGCCCCCGCGCCTTTTTTCGCCTGCGGCGCCGGCGACAGATCATGGCGACCAGGAGCAGCGCCGTGAGCGCCAGCAGCGCGATGGCCGCCGCAATGGCCGTCTGTGTGGCCACGCCCAGGGCGCGGAAGGCCATGCTGCCCGCCTCGGGCCGGGGCTCGCTGCCGGCGGGGCGGGCGGCCGGAGGCGGCGGTTGCGCGGGCTGCTGCGGCTGCTGCCGGGACGCGTTGACCAGGAGCCGGAAGGGCACGCGGGCAGCGCCGCCGGCGTTGGAGGCCTCGCACTCGTACTTACCGGCGTGCGCCAGCGTGATGTTGCTGAGGAAGAGCATGCCGCTGCCCGTGTCGGATGCCGAGTGTCCGCCCAGGCCCAGCAACCCGCCTTCTAGCTGGGCCTGGGCTCGCGGCCGGCCCTCGCGAGGCTGGGGCACCTTTCTCCAGGTCACCAATGGCTGCGGGTAGCCGGAGGCTTGGCAGGCAACCCGCAGGTCCTCACCCAGGTTGGCTGTGAGCTCCAGCGGCTGCACGTGGACAGAGGGCGGAATGCAGATGAGGCTGCTGTGGGATACGTCCAGGAGACTCTGGAGCGCCAGGCGCGGGGGCTCTGCACACATGATCTTCCTGTCCCTGGAGGTGAGCAGCCGCTGGCCGCCCTCCTTGATCCAGGCACCCAGCCAGTGCAGGGCGCAGTCACAGCGCCATGGGTTCTCTGTGGGAGAGCAGCGTTAGGCAGGTGGCTTGAGGGTGCTGCTAAAACAGCCTGTGCAGTTGGGGTTTTGCAGGCCAGGACAGAGGCCTCTTTCCCACCTCCCACAGCGTTTTCACACGGAGTCCAAGGCCCTGCCACCCCTTCCTTGACCCCAAGCTCCTTGGGGCGGCAGGCCCTTCACCCTCGCCCCCCTCCCCTTTAGCTCTGTGATGCCTGCCTGTTACAGATCACTTCTCCGTCGGT)CTCTGAGAAAGCACCTGCTCCTTAAGTCTTCCTGCAACAAGTGCCACTGTTTTTAGGAACCTGGGCGTCCACATAGACATCTCACCAGCACTGAAACCTCACAAGTCCTCTCAGCCTTGCCTTTGGATGCCCTCTCTTGGGAATGTCCCCAGTCCTGGTCAGCTGTCTCTCTCCTTTGCAATTTTGTCTGCCTCCCCTCAGCCTAAAAGTGTGCAGAACCCTCAATTCTGTTAAGTCACCCTGTGGAGTTCCTGTCTTCTGTTTTCCCCAGGCAGGGTGCCTGAGCTGTATTCCCCAGCACACCCACTCCCG|GCCCATGTGTGCCTTGCTGTCTGATCCATCTCTCTGAAACAACAAAGCAACCAAAGGGACTCAGAGCACGGGAAGGCCCCTCACTGCAaCACAGGTGCAGCTTCCCCTGTCAAGGCCCCTGCAGATCACTCACGATCTGACCCCTTCTGCTGCAAACTTACAGCTCGGTGCTCcTGGTCACCAACTTTCCTCCAC . 11BR020 ENSG00000259494.2 ENSG00000173867.10 -/- -/+ chr15:88464703 chr15:88523473 CDS/splice-site intron inversion/5'-5' 6 2 2 145 10 medium out-of-frame . 39S_mitochondrial_ribosomal_protein_L46_(100%)| . . ENSG00000259494.2 ENSG00000173867.10 ENST00000312475.5 . upstream upstream . ^(GAGAACGAAAGATGGCGGCGCCCGTAAGGCGGACGCTGTTAGGGGTGGCGGGGGGTTGGCGGCGGTTCGAGAGGCTCTGGGCCGGCAGTCTAAGCTCTCGCAGCCTGGCTCTTGCAGCCGCACCCTCAAGCAACGGATCCCCATGGCGCTTGTTGGGCGCGTTGTGCCTGCAGCGGCCACCTGTAGTCTCCAAGCCGTTGACCCCATTGCAGGAAGAGATGGCGTCTCTACTGCAGCAG___ATTGAGATAGAGAGAAGCCTGTATTCAGACCACGAGCTTCGTGCTCTGGATGAAAACCAGCGACTGGCAAAGAAGAAAGCTGACCTTCATGATGAAGAAGATGAA)CAGGATATATTGCTGGCGCAAGATTTGGAAGATATGTGGGAGCAGAAATTTCTACAGTTCAAACTTGGAGCTCGCATAACAG___AAGCTGATGAAAAGAATGACCGAACATCCCTGAACAGGAAGCTAGACAGGAACCTTGTCCTGTTAGTCAGAGAGAAGTTTGGAGACCAGGATGTTTGGATACTGCCCCAGGCAGAGTGGCAGCCTGGGGAGACCCTTCGAGGAACAGCTGAACGAACCCTGGCCACACTCTCAG|TCTCCCTCTGATGCCAAGCCGAGGCTGAACTGTACTGCCGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGTCTACCGAGTGCCTGGGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTTGTATTTTTTGGCAGAGACGGGGTTTTGCTGTGTTGGCCGGGCTGGTCTCCAGC MAAPVRRTLLGVAGGWRRFERLWAGSLSSRSLALAAAPSSNGSPWRLLGALCLQRPPVVSKPLTPLQEEMASLLQQIEIERSLYSDHELRALDENQRLAKKKADLHDEEDEQDILLAQDLEDMWEQKFLQFKLGARITEADEKNDRTSLNRKLDRNLVLLVREKFGDQDVWILPQAEWQPGETLRGTAERTLATLS|vsl* 11BR020 ENSG00000173867.10 ENSG00000140543.14 -/- -/+ chr15:88464703 chr15:88523473 3'UTR/splice-site intron inversion/5'-5' 6 2 2 145 10 medium stop-codon . . . . ENSG00000173867.10 ENSG00000140543.14 ENST00000649547.1 . upstream upstream . ^(GGCTGGGGCATCCCTCGCCCTGGCTCTTTGAGCCCGGACCAGACAG___GAGTGATGAATCTAAGCAGGAATGCCATCCACCTTCAGAGCCATTGGCGTGAGGATGACGGTGTGAAGTCTTTTCAAAGCAGGA___AGATGTGATAATGGATCATCATGTTTCTACCATCAAGCCTCGAAGAATCCAAAACCAAAATGTCATTCACCGCTTGGAACGCCGGCGGATCAGTTCAGGCAAGGCAGGTACCCACTGGCACCAAGTCCGAGTGTTCCATCAGAATGTCTTCCCCAACTTCACAGTTGTCAACGTTGAAAAGCCTCCTTGTTTCTTGCGTAAATTCTCACCTGATGGACGCTACTTTATTGCTTTTTCTTCAGACCAGACATCTCTTGAAATCTATGAGTACCAGGGCTGCCAGGCAGCAGAGGACCTACTGCAGGGATACGAAGGAGAAATCCTGTCCAATGGCAATGACCAGCGGTCAGTGAATATCCGGGGCCGGCTCTTTGAACGCTTTTTTGTCCTGCTGCACATTACCAATGTTGCGGCCAATGGTGAGCACCTGAACCGGGAGTGTAGTCTCTTCACTGATGACTGCCGCTGTGTCATCGTGGGCTCAGCTGCCTACCTCCCAGATGAGCCTCACCCTCCATTTTTTGAGGTATATCGGAACAGTGAATCAGTGACCCCCAACCCACGGTCCCCTCTAGAAGACTATTCCCTCCATATCATTGACCTTCACACCGGCCGCTTATGTGATACACGCACGTTCAAGTGTGACAAGGTGGTCTTGTCACACAACCAAGGGCTGTACTTGTACAAAAACATCCTGGCCATCTTGTCTGTGCAACAACAGACCATCCATGTCTTCCAGGTGACTCCTGAAGGCACTTTCATTGATGTGCGGACCATTGGCCGCTTTTGCTATGAGGATGACCTGCTCACTGTGTCAGCTGTTTTCCCTGAGGTACAGCGGGACAGTCAGACAGGCATGGCCAATCCCTTTAGGGATCCTTTCATCAATTCCCTCAAACACCGGTTGCTGGTATATTTGTGGCGCCGGGCAGAACAGGATGGTAGTGCAATGGCCAAGAGGCGCTTCTTCCAGTATTTTGACCAACTGCGGCAGCTGCGAATGTGGAAAATGCAGCTTCTGGATGAAAACCACCTGTTTATCAAGTACACTAGTGAGGATGTAGTAACACTGCGAGTCACAGATCCATCACAG___GCATCTTTCTTTGTGGTGTACAATATGGTGACGACAGAGGTGATTGCTGTGTTTGAGAATACATCAGATGAGCTTTTGGAGCTCTTTGAGAACTTCTGTGACCTTTTTCGTAATGCTACCCTGCACAGTGAAGTTCAGTTTCCCTGCTCAGCTTCTAGCAACAATTTTGCAAGGCAGATCCAGCGCCG___GTTCAAAGACACTATTATAAATGCCAAGTATGGAGGGCACACAGAGGCAGTACGCCGGCTGCTGGGTCAGCTCCCCATCAGTGCTCAGTCTTACAGCGGTAGCCCCTATCTGGATTTGTCTCTCTTCAGTTATGATGACAAGTGGGTATCTGTCATGGAGCGGCCCAAGACTTGTGGAGATCACCCAATCAG___GTTCTATGCCCGGGACTCGGGCCTGCTCAAGTTTGAGATCCAGGCGGGGTTATTGGGCCGCCCCATCAACCACACAGTGCGACGCCTTGTTGCCTTCACCTTTCACCCTTTTGAGCCTTTCGCTATTTCTGTGCAGAGGACTAATGCTGAGTATGTTGTCAACTTCCATATGCGACACTGCTGCACGTAGGTGCCTCACCAGAGCCAGATTATCTGGTCTTCCAAGACTTTGCCACTCACTTATCTCAGTGGACTCCAAAGCAAAAGCTCCCGACTACTAGCTCTGTTAGTTCCAGCCTGCTATACCTCAGATGGGAGAGAGCCAGAGAGAGGAGTGAGGGTGGCTCAACCTAATGGAATTTTTAAATTGTATACAATACTGCTACTGATTGTTATAATATCCTCTTGCGTTTTCCCTGTGGGAATGCCCAGCATTAATTAAGTCCATTTCATTTTTGCTTTACTTTGCATTTGATTGCTGTGAAGATGAAAGCATTAGACTTTTATCCCCTTCATGTCACTTCTTCGGCATTATGGTTTGCATCTGAAAGCAGTTAAATCTTGTTTACTGATGAGAATGACATACATCCTTTCCATTTAGCTCATAAGCACGGCTATCTTTTTAAGAGAAAAATAAAGCCATGGTATTTTCATACTTAAATATATGTGGTTGGATGACTGCTTTATGTTCCTATCATACTCAATGCTTTCAAGTACTTGGGTTCCAGGAAGGACTGTGAAAGAGATGAGAGGCCATGGATGCAGCAGCTGTTCCTGGGAGAACTAAGTG___GGACAGTGGAGACAGATGAAGGAAGGGCAGAAAAAGAAAAATATACTGTGGAAGAGCACTGGAGTTGGATCAATGGGAATGTGTTGTATGACCAAGAGTTGAAGATGTTTCAAGGAGAGGCCCAGCATATACAAAGGCATGGAAGTATGAAAATG___ATTGAGATAGAGAGAAGCCTGTATTCAGACCACGAGCTTCGTGCTCTGGATGAAAACCAGCGACTGGCAAAGAAGAAAGCTGACCTTCATGATGAAGAAGATGAA)CAGGATATATTGCTGGCGCAAGATTTGGAAGATATGTGGGAGCAGAAATTTCTACAGTTCAAACTTGGAGCTCGCATAACAG___AAGCTGATGAAAAGAATGACCGAACATCCCTGAACAGGAAGCTAGACAGGAACCTTGTCCTGTTAGTCAGAGAGAAGTTTGGAGACCAGGATGTTTGGATACTGCCCCAGGCAGAGTGGCAGCCTGGGGAGACCCTTCGAGGAACAGCTGAACGAACCCTGGCCACACTCTCAG|TCTCCCTCTGATGCCAAGCCGAGGCTGAACTGTACTGCCGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGTCTACCGAGTGCCTGGGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTTGTATTTTTTGGCAGAGACGGGGTTTTGCTGTGTTGGCCGGGCTGGTCTCCAGC . 11BR020 ENSG00000173867.10 ENSG00000173867.10 -/- -/+ chr15:88464703 chr15:88523473 3'UTR/splice-site intron inversion/5'-5' 6 2 1 145 10 medium stop-codon . . . . ENSG00000173867.10 ENSG00000173867.10 ENST00000649547.1 . upstream upstream . ^(GGCTGGGGCATCCCTCGCCCTGGCTCTTTGAGCCCGGACCAGACAG___GAGTGATGAATCTAAGCAGGAATGCCATCCACCTTCAGAGCCATTGGCGTGAGGATGACGGTGTGAAGTCTTTTCAAAGCAGGA___AGATGTGATAATGGATCATCATGTTTCTACCATCAAGCCTCGAAGAATCCAAAACCAAAATGTCATTCACCGCTTGGAACGCCGGCGGATCAGTTCAGGCAAGGCAGGTACCCACTGGCACCAAGTCCGAGTGTTCCATCAGAATGTCTTCCCCAACTTCACAGTTGTCAACGTTGAAAAGCCTCCTTGTTTCTTGCGTAAATTCTCACCTGATGGACGCTACTTTATTGCTTTTTCTTCAGACCAGACATCTCTTGAAATCTATGAGTACCAGGGCTGCCAGGCAGCAGAGGACCTACTGCAGGGATACGAAGGAGAAATCCTGTCCAATGGCAATGACCAGCGGTCAGTGAATATCCGGGGCCGGCTCTTTGAACGCTTTTTTGTCCTGCTGCACATTACCAATGTTGCGGCCAATGGTGAGCACCTGAACCGGGAGTGTAGTCTCTTCACTGATGACTGCCGCTGTGTCATCGTGGGCTCAGCTGCCTACCTCCCAGATGAGCCTCACCCTCCATTTTTTGAGGTATATCGGAACAGTGAATCAGTGACCCCCAACCCACGGTCCCCTCTAGAAGACTATTCCCTCCATATCATTGACCTTCACACCGGCCGCTTATGTGATACACGCACGTTCAAGTGTGACAAGGTGGTCTTGTCACACAACCAAGGGCTGTACTTGTACAAAAACATCCTGGCCATCTTGTCTGTGCAACAACAGACCATCCATGTCTTCCAGGTGACTCCTGAAGGCACTTTCATTGATGTGCGGACCATTGGCCGCTTTTGCTATGAGGATGACCTGCTCACTGTGTCAGCTGTTTTCCCTGAGGTACAGCGGGACAGTCAGACAGGCATGGCCAATCCCTTTAGGGATCCTTTCATCAATTCCCTCAAACACCGGTTGCTGGTATATTTGTGGCGCCGGGCAGAACAGGATGGTAGTGCAATGGCCAAGAGGCGCTTCTTCCAGTATTTTGACCAACTGCGGCAGCTGCGAATGTGGAAAATGCAGCTTCTGGATGAAAACCACCTGTTTATCAAGTACACTAGTGAGGATGTAGTAACACTGCGAGTCACAGATCCATCACAG___GCATCTTTCTTTGTGGTGTACAATATGGTGACGACAGAGGTGATTGCTGTGTTTGAGAATACATCAGATGAGCTTTTGGAGCTCTTTGAGAACTTCTGTGACCTTTTTCGTAATGCTACCCTGCACAGTGAAGTTCAGTTTCCCTGCTCAGCTTCTAGCAACAATTTTGCAAGGCAGATCCAGCGCCG___GTTCAAAGACACTATTATAAATGCCAAGTATGGAGGGCACACAGAGGCAGTACGCCGGCTGCTGGGTCAGCTCCCCATCAGTGCTCAGTCTTACAGCGGTAGCCCCTATCTGGATTTGTCTCTCTTCAGTTATGATGACAAGTGGGTATCTGTCATGGAGCGGCCCAAGACTTGTGGAGATCACCCAATCAG___GTTCTATGCCCGGGACTCGGGCCTGCTCAAGTTTGAGATCCAGGCGGGGTTATTGGGCCGCCCCATCAACCACACAGTGCGACGCCTTGTTGCCTTCACCTTTCACCCTTTTGAGCCTTTCGCTATTTCTGTGCAGAGGACTAATGCTGAGTATGTTGTCAACTTCCATATGCGACACTGCTGCACGTAGGTGCCTCACCAGAGCCAGATTATCTGGTCTTCCAAGACTTTGCCACTCACTTATCTCAGTGGACTCCAAAGCAAAAGCTCCCGACTACTAGCTCTGTTAGTTCCAGCCTGCTATACCTCAGATGGGAGAGAGCCAGAGAGAGGAGTGAGGGTGGCTCAACCTAATGGAATTTTTAAATTGTATACAATACTGCTACTGATTGTTATAATATCCTCTTGCGTTTTCCCTGTGGGAATGCCCAGCATTAATTAAGTCCATTTCATTTTTGCTTTACTTTGCATTTGATTGCTGTGAAGATGAAAGCATTAGACTTTTATCCCCTTCATGTCACTTCTTCGGCATTATGGTTTGCATCTGAAAGCAGTTAAATCTTGTTTACTGATGAGAATGACATACATCCTTTCCATTTAGCTCATAAGCACGGCTATCTTTTTAAGAGAAAAATAAAGCCATGGTATTTTCATACTTAAATATATGTGGTTGGATGACTGCTTTATGTTCCTATCATACTCAATGCTTTCAAGTACTTGGGTTCCAGGAAGGACTGTGAAAGAGATGAGAGGCCATGGATGCAGCAGCTGTTCCTGGGAGAACTAAGTG___GGACAGTGGAGACAGATGAAGGAAGGGCAGAAAAAGAAAAATATACTGTGGAAGAGCACTGGAGTTGGATCAATGGGAATGTGTTGTATGACCAAGAGTTGAAGATGTTTCAAGGAGAGGCCCAGCATATACAAAGGCATGGAAGTATGAAAATG___ATTGAGATAGAGAGAAGCCTGTATTCAGACCACGAGCTTCGTGCTCTGGATGAAAACCAGCGACTGGCAAAGAAGAAAGCTGACCTTCATGATGAAGAAGATGAA)CAGGATATATTGCTGGCGCAAGATTTGGAAGATATGTGGGAGCAGAAATTTCTACAGTTCAAACTTGGAGCTCGCATAACAG___AAGCTGATGAAAAGAATGACCGAACATCCCTGAACAGGAAGCTAGACAGGAACCTTGTCCTGTTAGTCAGAGAGAAGTTTGGAGACCAGGATGTTTGGATACTGCCCCAGGCAGAGTGGCAGCCTGGGGAGACCCTTCGAGGAACAGCTGAACGAACCCTGGCCACACTCTCAG|TCTCCCTCTGATGCCAAGCCGAGGCTGAACTGTACTGCCGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGTCTACCGAGTGCCTGGGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTTGTATTTTTTGGCAGAGACGGGGTTTTGCTGTGTTGGCCGGGCTGGTCTCCAGC . 11BR020 ENSG00000111424.12 ENSG00000111424.12 -/- -/+ chr12:47857129 chr12:47852145 CDS/splice-site intron inversion/5'-5' 4 1 1 140 9 medium out-of-frame . Zinc_finger__C4_type_(two_domains)(100%)| . . ENSG00000111424.12 ENSG00000111424.12 ENST00000395324.6 . upstream upstream . ^(GGGGACAGGGGTGAGGCCAGAGACGGACGGACGCAGGGGCCCGGCCCAAGGCGAGGGAGAACAGCGGCACTGAGGCAGAAAGGAAGAGGGCGGTGTGTTCACCCGCAGCCCAATCCATCACTCAGCAACTCCTAGACGCTGGTAGAAAGTTCCTCCGAGGAGCCTGCCATCCAGTCGTGCGTGCAG___AAGCCTTTGGGTCTGAAGTGTCTGTGAGACCTCACAGAAGAGCACCCCTGGGCTCCACTTACCTGCCCCCTGCTCCTTCAG___GGATGGAGGCAATGGCGGCCAGCACTTCCCTGCCTGACCCTGGAGACTTTGACCGGAACGTGCCCCGGATCTGTGGGGTGTGTGGAGACCGAGCCACTGGCTTTCACTTCAATGCTATGACCTGTGAAGGCTGCAAAGGCTTCTTCAG___GCGAAGCATGAAGCGGAAGGCACTATTCACCTGCCCCTTCAACGGGGACTGCCGCATCACCAAGGACAACCGACGCCACTGCCAGGCCTGCCGGCTCAAACGCTGTGTGGACATCGGCATGATGAAGGAGT___TCATTCTGACAGATGAGGAAGTGCAGAGGAAGCGGGAGATGATCCTGAAGCGGAAGGAGGAGGAGGCCTTGAAGGACAGTCTGCGGCCCAAGCTGTCTGAGGAGCAGCAGCGCAT)CATTGCCATACTGCTGGACGCCCACCATAAGACCTACGACCCCACCTACTCCGACTTCTGCCAGTTCCGG___CCTCCAGTTCGTGTGAATGATGGTGGAGGGAGCCATCCTTCCAGGCCCAACTCCAGACACACTCCCAGCTTCTCTGGGGACTCCTCCTCCTCCTGCTCAGATCACTGTATCACCTCTTCAG|GGCAGCTTTCCCGTGTATGCAATCTCAGCCACCATTGGAATCACTGAACCTGGAATCACTGTATCTGGAAAGGGCCGTGGGGGCCCTCTGTCCTACTCCCCACTAG...AGGGAAGGATGAAGCCTGTGTAGACAAGGACTGCTGCCTGACATGAGGATGGAAGCCGAGTGCTTCTGTGTTTTTTCCCTAGCTGTTTACACAAAACAAGACTTTGGAATATGTGGAGTTTGCAAACAGTAACGTGAAGCGTGGAGGA MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSS|gqlsrvcnlshhwnh* 11BR020 ENSG00000151208.17 ENSG00000286359.1(20641),ENSG00000062650.19(11414) -/- ./- chr10:77926217 chr10:86423842 CDS/splice-site intergenic duplication 5 0 0 27 2 medium out-of-frame . . . . ENSG00000151208.17 . ENST00000372391.7 . upstream downstream duplicates(1) ^(CAGTCCCGCCGCCGCGGCAGCCAACATGGCTGCGCTCCGGAGCCCGGGAGGCGGCCGCTGCTGAGCGCCGCCCGCCGCCCCGGGCCCCCAGCCCGCCCAGGCCCCGGCCCATGGCTCCCGCCGCCTCACGGCTCCCGGCGCCCTAGGGCTGCTGCCGAGGTGCTCGCCTGCCCGCCCGCCGGCCTCGGGGGGCCCGGGAGGCGTCCGGCGGGGCGGGGCGGCGCGGCCCGCCACCATGGAGCCCCAGCGCCGGGAGCTGCTCGCCCAGTGTCAGCAGAGCCTGGCCCAGGCCATGACGGAGGTGGAAGCCGTGCTCGGGCTGCTCGAGGCCGCGGGAGCGCTCAGTCCCGGCGAGCGGCGGCAGCTGGACGAGGAGGCGGGAGGCGCCAAGGCGGAGCTGCTGCTCAAGCTGCTCTTGGCCAAGGAGCGGGACCACTTCCAGGACCTGCG)GGCGGCGCTGGAGAAGACGCAGCCTCACCTGCTGCCCATTCTCTACCTGAACGGCGTCGTCGGGCCGCCGCAGCCCGCCGAAGGCGCGG|GAACAATGGGGATGCAAATAGTCAGACAACGGTGCTACAGGGACTTCCAGTTACAAGGATGTGGAC MEPQRRELLAQCQQSLAQAMTEVEAVLGLLEAAGALSPGERRQLDEEAGGAKAELLLKLLLAKERDHFQDLRAALEKTQPHLLPILYLNGVVGPPQPAEGA|gtmgmqivrqrcyrdfqlqgcg 11BR020 ENSG00000188266.14 ENSG00000166262.16 +/+ -/- chr15:78515107 chr15:49371399 CDS/splice-site CDS/splice-site inversion 0 5 0 30 17 medium out-of-frame . Phosphotransferase_enzyme_family(100%)| . . ENSG00000188266.14 ENSG00000166262.16 ENST00000408962.6 ENST00000299338.11 downstream downstream . ^(GCGGGCGCTGCGGCCCCTGCTCTACCTCCTAGCGCCGGTGCGCGGCCGAGGCCGCACTACCTGTCTGCGGGAAAGCGGGATCCACCCCAGGACGTCGGGTCGCTGCCG___ACATAATGTCAAGTGGAAACTATCAGCAGTCAGAGGCTCTTAGCAAACCCACTTTCAGTGAGGAACAAGCCTCTGCGTTAGTGGAGTCAGTGTTTGGGTTGAAAGTTTCCAAGGTCCGGCCACTTCCTAGCTATGATGACCAAAACTTTCATGTCTACGTTTCAAAAACCAAAGATGGCCCAACTGAATATGTCCTCAAAATAAGCAACACCAAGGCTAGCAAAAATCCAGACCTGATTGAAGTGCAGAATCACATCATCATGTTTCTGAAAGCCGCTGGATTTCCAACAGCCTCTGTGTGTCACACTAAAGGAGACAACACAGCTTCTCTCGTGTCTGTAG___ATAGTGGCT)CTGAAATCAAAAGCTACTTGGTGAGGCTGCTGACTTACCTCCCAGGAAGACCCATCGCTGAGCTTCCCGTCAGCCCCCAGCTATTGTATGAAATTGGAAAACTAGCTGCCAAATTGGATAAGACACTGCAG|GTATCGACTTCAATATTATAAAGATTCTGAACAACCCAAGAGCATATACGTTGCCCATATCCAAGGAAGAATCAAGATTATCAAGACTAGCAACAAAG(___TCGCACTATAGTAGTACTGGTCCAGAGTTTAATCGTGTTCTCTTCAATTTTGGAGGTCAGAGTCCATTGATTTTATATTATCTTAAGATGCATGAGCTGGCTGGTATTTCCAAAGCACCTAAGAAAACCAAGATTAAACTCACTAAGATATTCCAGGAACC___ACTACCTGCTCCAACATACCGTGATGTTATAAAGGAGGCAAAAAGACAATTTGCAAGGAACCAAAAGGATTTTAGGAT___ACTCCAAGCAAAGGCTACCAAGAAACCTCATGAAGTGAAACAGGACTTTGAGAAGTTCCTACATAAACTG___CGTTCCGAAGCTGAAATTGAGAGAGAATGTGTGGCATCACTATCGTCATCATCATCATCATCACCATCATCAACAGACAACTACAACTTTGAGGAAGAAGAATACTAAGAGAAACCAGAAATGAACTCTATTCAAGAATAATGCATACAATTCAGTGGTATCAGTTTAATTGTAACAATATATTTAATTCAAGTCCAATCCATGTAATCAGTATTAAGAGTGTGTTTTACCATTCATCTTTAAAATCTTCAAATCAATAAATCTCAGTAAGTTATTCTTAAAAGATCTGTCCAAGCATGATCTTGGCTCTTAATAGTAAAACCATATTTTAAGATGGAAAAAGAATCATTATGAAGCATAGAGAGCTTTCAACCATTTCTTTGAAAATATATCTTGATATAATAGCAACCGTTCATCATAATACAAAACAGAAGGAAGATTAATTTACTGTGGCACAGAAAGTCCTGCCAATTCCTAAGTGCCCTAAGTAGTTTCTCTCAGACTTTTTACATTTTTTCAGGCCTCAAGCAAAACCAAAGCCCCACCTCCAGGTTTGGTAGCAAACAAACTTTGCTTCTCCGGTGCTAAGCTTCCATCACTCCTCTGGTAATAAGCTTTGTGCACATTTGCTAGAAAGCTGGGCAGCTTGTCCGCAGGTACCATTGATACTGTGCAGCCTCCCCATCCTGCTCCAGTAAGTCGTGACCCTTGAGCCCCAAACTTCCTAAAACAGTGAGGAAAAAAATATTAGAACCTATAAATGAAAATACAAGGGATTTGCTTGGTGTTTGTAGAACACATAGCCTATCTAAGTTCTAAGAAGAAAATACATGCGGGGTTTTTAGGTGTCATCAAACATTTTAGGACATTAAGACATTTATACTGTTTCAGAGAGTGATTTGGAATTTTTTCATTGTATCTAAATCTAGTCCCTGGTTTTGACTCCAAGTGGTAAGTCAACAGTACTCCTCCCATTTCATGACTGGCAATAACCCACTGTAATATTGATTCCATAAAGTAGCCACTTGAAGAGTTGTATAGCAAGCTTACACGTAAATCAGGAAGGAGGCGTTAAGATAAAACAGGCAATGGTAAAAGAAATGTAGGCAACCCTGAATCAGAAGGTCACTCCAAATGAGGACAAATCAAAATTTAAAATGTACAGTCTTATACAAGTTTTCCCCAATGGCTATTTCAGCTGCATTCTTAAGGCCGGGCTGTTTCAAAGAAGAATCAGTCCCCTAGAACAGATAGCCTAGTTCACTGAATAAACTTATCAACAAAAAGCGTGTTATTAAACTCCAGGTTGGGTCGGTGGTTGGTTGAATCTCTAATGGAAAATTAACCAAGCCTTTCCACAAAGCAGAGGGCAGTCCCTAGAGGTCCACACCACCTTCCCTGTGCCTTCTGGAGCTAGTCTGATTATTGGACTCAGAAGTTGACATCAGATGAGATATATCTGATTGGGATGACAACAACTATATAAAGGACCACACAGCTAGAGTTAATTTTAGTTACTGTAAACCAGGCACAGTTTCAAACCTAAGATTTCAACCAAAGTGAAAGGCCCTATCACAATGTACACAGATCACTTAGCTTTAAAAGATGCAATTTATCCTGACACGAAAGTTAACATGTACTTACAATTAATTCTTCTTAATAAAATTCACTCCAAATTACTAGTGGATTAAAGGCTCTATGATTAA)$ MSSGNYQQSEALSKPTFSEEQASALVESVFGLKVSKVRPLPSYDDQNFHVYVSKTKDGPTEYVLKISNTKASKNPDLIEVQNHIIMFLKAAGFPTASVCHTKGDNTASLVSVDSGSEIKSYLVRLLTYLPGRPIAELPVSPQLLYEIGKLAAKLDKTLQ|vstsil* 11BR020 ENSG00000143420.19 ENSG00000197959.14 -/- +/- chr1:150625642 chr1:172126360 CDS/splice-site intron duplication/5'-5' 4 0 0 897 2 medium out-of-frame . . . . ENSG00000143420.19 ENSG00000197959.14 ENST00000369014.10 . upstream downstream . ^(ACGGGCAAGGGCCGCCATTTTGACTGAGCAACCCTAGTGACAGGAGCCGAAGCAGCAGCGCAGGTTGTCCCCGTTTCCCCTCCCCCTTCCCTTCTCCGGTTGCCTTCCCGGGCCCCTTACACTCCACAGTCCCGGTCCCGCCATGTCCCAGAAACAAGAAGAAGAGAACCCTGCGGAGGAGACCGGCGAGGAGAAGCAG___GACACGCAGGAGAAAGAAGGTATTCTGCCTGAGAGA)GCTGAAGAGGCAAAGCTAAAGGCCAAATACCCAAGCCTAGGACAAAAGCCTGGAGGCTCCGACTTCCTCATGAAGAGACTCCAGAAAGGG___CAAAAGTACTTTGACTCAGGAGACTACAACATGGCCAAAGCCAAGATGAAGAATAAGCAGCTGCCAAGTGCAGGACCAGACAAGAACCTGGTGACTGGTGATCACATCCCCACCCCACAGGATCTGCCCCAGAGAAAGTCCTCGCTCGTCACCAGCAAGCTTGCGGG|GGAAAAAGAAGATTACAGCTGCCATGTTGTGAAGAAACATGACCCACATCTCTTACCAGTTACCCATGGAAGTGAGTTCAGCACTGGATGTTGcCAG MSQKQEEENPAEETGEEKQDTQEKEGILPERAEEAKLKAKYPSLGQKPGGSDFLMKRLQKGQKYFDSGDYNMAKAKMKNKQLPSAGPDKNLVTGDHIPTPQDLPQRKSSLVTSKLAg|ekedyschvvkkhdphllpvthgsefstgcc 11BR020 ENSG00000160712.13 ENSG00000048544.6(89),ENSG00000124496.12(6981) +/+ ./- chr1:154430606 chr6:42217950 CDS/splice-site intergenic translocation 3 0 0 32 1 medium stop-codon . Immunoglobulin_domain(100%),Interleukin-6_receptor_alpha_chain__binding(100%)| . . ENSG00000160712.13 . ENST00000368485.8 . downstream downstream . ^(AAATGTTTTCCTGCGTTGCCAGGACCGTCCGCCGCTCTGAGTCATGTGCGAGTGGGAAGTCGCACTGACACTGAGCCGGGCCAGAGGGAGAGGAGCCGAGCGCGGCGCGGGGCCGAGGGACTCGCAGTGTGTGTAGAGAGCCGGGCTCCTGCGGATGGGGGCTGCCCCCGGGGCCTGAGCCCGCCTGCCCGCCCACCGCCCCGCCCCGCCCCTGCCACCCCTGCCGCCCGGTTCCCATTAGCCTGTCCGCCTCTGCGGGACCATGGAGTGGTAGCCGAGGAGGAAGCATGCTGGCCGTCGGCTGCGCGCTGCTGGCTGCCCTGCTGGCCGCGCCGGGAGCGGCGCTGGCCCCAAGGCGCTGCCCTGCGCAGG___AGGTGGCGAGAGGCGTGCTGACCAGTCTGCCAGGAGACAGCGTGACTCTGACCTGCCCGGGGGTAGAGCCGGAAGACAATGCCACTGTTCACTGGGTGCTCAGGAAGCCGGCTGCAGGCTCCCACCCCAGCAGATGGGCTGGCATGGGAAGGAGGCTGCTGCTGAGGTCGGTGCAGC)TCCACGACTC-GGAAACTATTCATGCTACCGGGCCGGCCGCCCAGCTGGGACTGTGCACTTGCTGGTGGATG___TTCCCCCCGAGGAGCCCCAGCTCTCCTGCTTCCGGAAGAGCCCCCTCAGCAATGTTGTTTGTGAGTGGGGTCCTCGGAGCACCCCATCCCTGACGACAAAGGCTGTGCTCTTGGTGAGGAAGTT|CGCCGGAACATGAGGATGTACTCTCTTCTTTTGCGG . 11BR020 ENSG00000196678.14 ENSG00000254681.6 -/- -/+ chr16:20896308 chr16:18387604 5'UTR/splice-site exon inversion/5'-5' 0 3 0 14 12 medium . . . . . ENSG00000196678.14 ENSG00000254681.6 ENST00000564349.5 . upstream upstream . ^(GGAGGCGGTGGCAGTGGTGGAAGAAGAGGCGGCGGCGGCGGGGGTAGGGAGCCTGGAAACGCGAGCGGGGATGGTAGGTGGTTTGGACCCGCCGGGCCGCCGTCGTTTCCAGAAAGGGTTTGACTGGAGGAACCTCTGGAGCAGCT___GCTTTTGGACAAACTCTTCTGAAAGGTGGG)CAACCTAGAAAGCCAGTTGATGCCACTTGCTATTGGAGTTGTGG|ATGCTGGTGAAGTAACGCGCCCTGTTCACGCGGCTGGACAGCACCAGCGCCAGGGGGAACGTGCCGCTACGCGTGAAGTTGTGTGTCACCGTCGGGCACCCCCGCATGGTCGTGTTGGAGGAGCCATCCCCAAAGGTCCAGTCGAAGAGGTAGCGGGCCGGGTTCCCGGTGACGTAGGCCGTGAGCCGCGCGTCAGGCTGAGTGGGGATGCAGGCGaCGGG . 11BR020 ENSG00000154269.15 ENSG00000079819.19 +/+ -/+ chr6:131740380 chr6:130929035 CDS/splice-site intron duplication/5'-5' 0 3 0 15 4 medium out-of-frame . DNA/RNA_non-specific_endonuclease(100%),Somatomedin_B_domain(100%),Type_I_phosphodiesterase_/_nucleotide_pyrophosphatase(100%)| . . ENSG00000154269.15 ENSG00000079819.19 ENST00000414305.5 . downstream upstream . ^(GAGAAATGAAAAGTTTGGAACCCAGAAGCTGCAGCCTGCGGAAAATGCTGGAGCCGCAGCCGACACCAAGTTGATGTCTGTGAGCAGCTGACCTTCTGGACCTCCATCAGCGGCCTGCAGCCAGGAGCTGAAGCCACAGAGACGGTGTCTTCTCAGCTATGATAACCTCAGTGCAAAT___ATTGCCCAATCACTGAAGAGCTGTGATCTTCCTAAACAGTTAAAAGTCAGGCACAGCTATGTAACTCATACAGTTTCTCTTTGCCAGACTAGACTAAAGAAGGAGCACTAATTTATTCTGATAAAACAGGTCTATGCAGCTACCAGGACAATGGAATCTACGTTGACTTTAGCAACGGAACAACCTGTTAAGAAGAACACTCTTAAGAAATATAAAATAGCTTGCATT___GTTCTTCTTGCTTTGCTGGTGATCATGTCACTTGGATTAGGCCTGGGGCTTGGACTCAGGAAACTGGAAAAGCAAG___GCAGCTGCAGGAAGAAGTGCTTTGATGCATCATTTAGAGGACTGGAGAACTGCCGGTGTGATGTGGCATGTAAAGACCGAGGTGATTGCTGCTGGGATTTTGAAGACACCTGTGTGGAATCAA___CTCGAATATGGATGTGCAATAAATTTCGTTGTGGAGAGACCAGATTAGAGGCCAGCCTTTGCTCTTGTTCAGATGACTGTTTGCAGAGGAAAGATTGCTGTGCTGACTATAAGAGTGTTTGCCAAG___GAGAAACCTCATGGCTGGAAGAAAACTGTGACACAGCCCAGCAGTCTCAGTGCCCAGAAGG___GTTTGACCTGCCACCAGTTATCTTGTTTTCTATGGATGGATTTAGAGCTGAATATTTATACACATGGGATACTTTAATGCCAAATATCAATAAACTGA___AAACATGTGGAATTCATTCAAAATACATGAGAGCTATGTATCCTACCAAAACCTTCCCAAATCATTACACCATTGTCACG___GGCTTGTATCCAGAGTCACATGGCATCATTGACAATAATATGTATGATGTAAATCTCAACAAGAATTTTTCACTTTCTTCAAAGGAACAAAATAATCCAGCCTGGTGGCATGGGCAACCA___ATGTGGCTGACAGCAATGTATCAAGGTTTAAAAGCCGCTACCTACTTTTGGCCCGGATCAGAAGTGGCTATAAATGGCTCCTTTCCTTCCATATACATGCCTTACAACGG___AAGTGTCCCATTTGAAGAGAGGATTTCTACACTGTTAAAATGGCTGGACCTGCCCAAAGCTGAAAG___ACCCAGGTTTTATACCATGTATTTTGAAGAACCTGATTCCTCTGGACATGCAGGTGGACCAGTCAGTGCCAGA___GTAATTAAAGCCTTACAGGTAGTAGATCATGCTTTTGGGATGTTGATGGAAGGCCTGAAGCAGCGGAATTTGCACAACTGTGTCAATATCATCCTTCTGGCTGACCATG___GAATGGACCAGACTTATTGTAACAAGATGGAATACATGACTGATTATTTTCCCAGAATAAACTTCTTCTACATGTACGAAGGGCCTGCCCCCCGCATCCGAGCTCATAATATACCTCATGACTTTTTTAGTT___TTAATTCTGAGGAAATTGTTAGAAACCTCAGT___TGCCGAAAACCTGATCAGCATTTCAAGCCCTATTTGACTCCTGATTTGCCAAAGCGACTGCACTATGCCAAGAACGTCAGAATCGACAAAGTTCATCTCTTTGTGGATCAACAGTGGCTGGCTGTTAG___GAGTAAATCAAATACAAATTGTGGAGGAGGCAACCATGGTTATAACAATGAGTTTAGGAGCATGGAG___GCTATCTTTCTGGCACATGGACCCAGTTTTAAAGAGAAGACTGAAGTTGAACCATTTGAAAATATTGAAGTCTATAACCTAATGTGTG___ATCTTCTACGCATTCAACCAGCACCAAACAATGGAACCCATGGTAGTTTAAACCATCTTCTGAAGGTGCCTTTTTATGAGCCATCCCATGCAGAGGAGGTGTCAAAGTTTTCTGTTTGTGGCTTTGCTAATCCATTGCCCACAGAGTCTCTTGACTGTTTCTGCCCTCACCTACAAAAT___AGTACTCAGCTGGAACAAGTGAATCAGATGCTAAATCTCACCCAAGAAGAAA___TAACAGCAACAGTGAAAGTAAATTTGCCATTTGGGAGGCCTAGGGTACTGCAGAAGAACGTGGACCACTGTCTCCTTTACCACAGGGAATATGTCAGTGGATTTGGAAAAGCTATGAGGATGCCCATGTGGAGTTCATACACAGTCCCCCAGTTG___GGAGACACATCGCCTCTGCCTCCCACTGTCCCAGACTGTCTGCGGGCTGATGTCAGGGTTCCTCCTTCTGAGAGCCAAAAATGTTCCTTCTATTTAGCAGACAAGAATATCACCCACGGCTTCCTCTATCCTCCTG___CCAGCAATAGAACATCAGATAGCCAATATGATGCTTTAATTACTAGCAATTTGGTACCTATGTATGAAGAATTCAGAA___AAATGTGGGACTACTTCCACAGTGTTCTTCTTATAAAACATGCCACAGAAAGAAATGGAGTAAATGTGGTTAGTGGACCAATATTTGATTATAATTATGATGGCCATTTTGATGCTCCAGATGAAATTACCAA___ACATTTAGCCAACACTGATGTTCCCATCCCAACACACTACTTTGTGGTGCTGACCAGTTG)TAAAAACAAGAGCCACACACCGGAAAACTGCCCTGGGTGGCTGGATGTCCTACCCTTTATCATCCCTCACCGACCTACCAACGTGGAGAGCTGTCCT|GGAACAGATATTCTCAATGCTTGATGAGATCCTGATTGCACATACACAcTACTTAAGCTTCCATCTGCCTCTCCACCCTCAACGAACTCAAAATCTGGAAGGAAAAGCAAAAATGCAACAACACATGAAGCACATGTTGAGAGAGCGATGTACAAAGTGCTATCAGAACACCAGGAATGGAATGAGTAAATGTGAC MESTLTLATEQPVKKNTLKKYKIACIVLLALLVIMSLGLGLGLGLRKLEKQGSCRKKCFDASFRGLENCRCDVACKDRGDCCWDFEDTCVESTRIWMCNKFRCGETRLEASLCSCSDDCLQRKDCCADYKSVCQGETSWLEENCDTAQQSQCPEGFDLPPVILFSMDGFRAEYLYTWDTLMPNINKLKTCGIHSKYMRAMYPTKTFPNHYTIVTGLYPESHGIIDNNMYDVNLNKNFSLSSKEQNNPAWWHGQPMWLTAMYQGLKAATYFWPGSEVAINGSFPSIYMPYNGSVPFEERISTLLKWLDLPKAERPRFYTMYFEEPDSSGHAGGPVSARVIKALQVVDHAFGMLMEGLKQRNLHNCVNIILLADHGMDQTYCNKMEYMTDYFPRINFFYMYEGPAPRIRAHNIPHDFFSFNSEEIVRNLSCRKPDQHFKPYLTPDLPKRLHYAKNVRIDKVHLFVDQQWLAVRSKSNTNCGGGNHGYNNEFRSMEAIFLAHGPSFKEKTEVEPFENIEVYNLMCDLLRIQPAPNNGTHGSLNHLLKVPFYEPSHAEEVSKFSVCGFANPLPTESLDCFCPHLQNSTQLEQVNQMLNLTQEEITATVKVNLPFGRPRVLQKNVDHCLLYHREYVSGFGKAMRMPMWSSYTVPQLGDTSPLPPTVPDCLRADVRVPPSESQKCSFYLADKNITHGFLYPPASNRTSDSQYDALITSNLVPMYEEFRKMWDYFHSVLLIKHATERNGVNVVSGPIFDYNYDGHFDAPDEITKHLANTDVPIPTHYFVVLTSCKNKSHTPENCPGWLDVLPFIIPHRPTNVESCP|gtdilna* 11BR020 ENSG00000151208.17 ENSG00000286359.1 -/- -/- chr10:77926217 chr10:86402664 CDS/splice-site exon/splice-site duplication 3 0 0 27 52 medium out-of-frame . . . . ENSG00000151208.17 ENSG00000286359.1 ENST00000372391.7 ENST00000671245.1 upstream downstream . ^(CAGTCCCGCCGCCGCGGCAGCCAACATGGCTGCGCTCCGGAGCCCGGGAGGCGGCCGCTGCTGAGCGCCGCCCGCCGCCCCGGGCCCCCAGCCCGCCCAGGCCCCGGCCCATGGCTCCCGCCGCCTCACGGCTCCCGGCGCCCTAGGGCTGCTGCCGAGGTGCTCGCCTGCCCGCCCGCCGGCCTCGGGGGGCCCGGGAGGCGTCCGGCGGGGCGGGGCGGCGCGGCCCGCCACCATGGAGCCCCAGCGCCGGGAGCTGCTCGCCCAGTGTCAGCAGAGCCTGGCCCAGGCCATGACGGAGGTGGAAGCCGTGCTCGGGCTGCTCGAGG)CCGCGGGAGCGCTCAGTCCCGGCGAGCGGCGGCAGCTGGACGAGGAGGCGGGAGGCGCCAAGGCGGAGCTGCTGCTCAAGCTGCTCTTGGCCAAGGAGCGGGACCACTTCCAGGACCTGCGGGCGGCGCTGGAGAAGACGCAGCCTCACCTGCTGCCCATTCTCTACCTGAACGGCGTCGTCGGGCCGCCGCAGCCCGCCGAAGGCGCGG|GCAACCCAGCCTGCAAGCAAACTGTCCTGCTTTGGACCCTGCTGTGTCACTCTCCGCACCAGCCTTTGCCTCTGCTCTTCGCTCTATGAAGTCCTC(CCAGGCTGCACGGAAGGACGACTTTCTCAGGTCTCTTAGGGATGGAGACTCAGGGACATCAGAACACATCTCAGCGGTGGTGACTAGTCCTCGGATTTCCTGCCATGGTGCTGCCATTCCCACCGCCCGTGCCCTCTGCCTAGGCTGTTCCTGCTGCACCGAACGCCTCCTCCTGCCACCGCCCTCCCTCCTTTCTTTAGAAGCCCCTGCCAGCACCTGAGCTCTCTGCTGATTGCTGTTCCTCCCAGTCTGTGGAAGCTTTGCCCATATGCTTTCCTTAAAAGGGTTCTGGGCAGGGCAGGCGCCCCCATTTCTCAGGGATCCCCTCCAGGACAACGCCTTTTCCTTGTGTCTTCAGCTCTCCTTACCAGATATCTATATATTTGTATATATTCAGTTTCACCAACAACGCATCAAGTACTTTTTTTTTTTTAAGTAAAGAACCGAAGT)$ MEPQRRELLAQCQQSLAQAMTEVEAVLGLLEAAGALSPGERRQLDEEAGGAKAELLLKLLLAKERDHFQDLRAALEKTQPHLLPILYLNGVVGPPQPAEGA|gnpackqtvllwtllchsphqplpllfal* 11BR020 ENSG00000169398.19 ENSG00000164758.7(33413),ENSG00000182197.12(220815) -/- ./+ chr8:140735251 chr8:117573675 CDS/splice-site intergenic inversion 3 0 0 293 3 medium out-of-frame . FERM_central_domain(100%),Protein_kinase_domain(100%)| . . ENSG00000169398.19 . ENST00000522684.5 . upstream upstream . ^(GACCACTGTGAGCCCGCGGCGTGAGGCGTGGGAGGAAGCGCGGCTGCTGTCGCCCAGCGCCGCCCCGTCGTCGTCTGCCTTCGCTTCACGGCGCCGAGCCGCGGTCCGA___GCAGAACTGGGGCTCCCTTGCATCTTCCAGTTACAAATTCAGTGCCTTCTGCAGTTTCCCCAGAGCTCCTCAAGAATAACGGAAGGGAG___AATATGACAGATACCTAGCATCTAGCAAAATAATGGCAGCTGCTTACCTTGACCCCAACTTGAATCACACACCAAATTCGAGTACTAAGACTCACCTGGGTACTGGTATGGAACGTTCTCCTGGTGCAATGGAGCGAGTATTAAAGGTCTTTCATTATTTTGAAAGCAATAGTGAGCCAACCACCTGGGCCAGTATTATCAGGCATGGAGATGCTACTGATGTCAGG___GGCATCATTCAGAAGATAGTGGACAGTCACAAAGTAAAGCATGTGGCCTGCTATGGATTCCGCCTCAGTCACCTGCGGTCAGAGGAGGTTCACTGGCTTCACGTGGATATGGGCGTCTCCAGTGTGAGGGAGAAGTATGAGCTTGCTCACCCACCAGAGGAGTGGAA___ATATGAATTGAGAATTCGTTATTTGCCAAAAGGATTTCTAAACCAGTTTACTGAAGATAAGCCAACTTTGAATTTCTTCTATCAACAG___GTGAAGAGCGATTATATGTTAGAGATAGCTGATCAAGTGGACCAGGAAATTGCTTTGAAGTTGGGTTGTCTAGAAATACG___GCGATCATACTGGGAGATGCGGGGCAATGCACTAGAAAAGAAGTCTAACTATGAAGTATTAGA___AAAAGATGTTGGTTTAAAGCGATTTTTTCCTAAGAGTTTACTGGATTCTGTCAAG___GCCAAAACACTAAGAAAACTGATCCAACAAACATTTAGACAATTTGCCAACCTTAATAGAGAAGAAAGTATTCTGAAATTCTTTGAGATCCTGTCTCCAGTCTACAGATTTGATAAGGAATGCTTCAAGTGTGCTCTTGGT___TCAAGCTGGATTATTTCAGTGGAACTGGCAATCGGCCCAGAAGAAGGAATCAGTTACCTAACGGACAAGGGCTGCAAT___CCCACACATCTTGCTGACTTCACTCAAGTGCAAACCATTCAGTATTCAAACAGTGAAGACAAGGACAGAAAAGGAATGCTACAACTAAAAATAGCAGGTGCACCCGAG___CCTCTGACAGTGACGGCACCATCCCTAACCATTGCGGAGAATATGGCTGACCTAATAGATGGGTACTGCCGGCTGGTGAATGGAACCTCGCAGTCATTTATCATCAGACCTCAGAAAG___AAGGTGAACGGGCTTTGCCATCAATACCAAA___GTTGGCCAACAGCGAAAAGCAAGGCATGCGGACACACGCCGTCTCTGTGTCAG___AAACAGATGATTATGCTGAGATTATAGATGAAGAAGATACTTACACCATGCCCTCAA___CCAGGGATTATGAGATTCAAAGAGAAAGAATAGAACTTGGACGATGTATTGGAGAAGGCCAATTTGGAGATGTACATCAAGGCATTTATATGAGTCCA___GAGAATCCAGCTTTGGCGGTTGCAATTAAAACATGTAAAAACTGTACTTCGGACAGCGTGAGAGAGAAATTTCTTCAAGAAGCCT___TAACAATGCGTCAGTTTGACCATCCTCATATTGTGAAGCTGATTGGAGTCATCACAGAGAATCCTGTCTGGATAATCATGGAGCTGTGCACACTTGGAGAG___CTGAGGTCATTTTTGCAAGTAAGGAAATACAGTTTGGATCTAGCATCTTTGATCCTGTATGCCTATCAGCTTAGTACAGCTCTTGCATATCTAGAGAGCAAAAGATTTGTACACAG___GGACATTGCTGCTCGGAATGTTCTGGTGTCCTCAAATGATTGTGTAAAATTAGGAGACTTTGGATTATCCCGATATATGGAAGATAGTACTTACTACAAAG___CTTCCAAAGGAAAATTGCCTATTAAATGGATGGCTCCAGAGTCAATCAATTTTCGACGTTTTACCTCAGCTAGTGACGTATGGATGTTTG___GTGTGTGTATGTGGGAGATACTGATGCATGGT)GTGAAGCCTTTTCAAGGAGTGAAGAACAATGATGTAATCGGTCGAATTGAAAATGGGGAAAGATTACCAATGCCTCCAAATTGTCCTCCTACCCTCTACAGCCTTATGACGAAATGCTGGGCCTATGACCCCAGCAGGCGGCCCAGGTTTACTGAACTTAAAGCTCAGCTCAG|GAGCGCCTGTTTGAGAATGAAGCCAAACCAGAGGACAAAAGAcCCAAGAGAAAAAAGTTAGGTTCCTGAAG MAAAYLDPNLNHTPNSSTKTHLGTGMERSPGAMERVLKVFHYFESNSEPTTWASIIRHGDATDVRGIIQKIVDSHKVKHVACYGFRLSHLRSEEVHWLHVDMGVSSVREKYELAHPPEEWKYELRIRYLPKGFLNQFTEDKPTLNFFYQQVKSDYMLEIADQVDQEIALKLGCLEIRRSYWEMRGNALEKKSNYEVLEKDVGLKRFFPKSLLDSVKAKTLRKLIQQTFRQFANLNREESILKFFEILSPVYRFDKECFKCALGSSWIISVELAIGPEEGISYLTDKGCNPTHLADFTQVQTIQYSNSEDKDRKGMLQLKIAGAPEPLTVTAPSLTIAENMADLIDGYCRLVNGTSQSFIIRPQKEGERALPSIPKLANSEKQGMRTHAVSVSETDDYAEIIDEEDTYTMPSTRDYEIQRERIELGRCIGEGQFGDVHQGIYMSPENPALAVAIKTCKNCTSDSVREKFLQEALTMRQFDHPHIVKLIGVITENPVWIIMELCTLGELRSFLQVRKYSLDLASLILYAYQLSTALAYLESKRFVHRDIAARNVLVSSNDCVKLGDFGLSRYMEDSTYYKASKGKLPIKWMAPESINFRRFTSASDVWMFGVCMWEILMHGVKPFQGVKNNDVIGRIENGERLPMPPNCPPTLYSLMTKCWAYDPSRRPRFTELKAQLr|saclrmkpnqrtkdpreks* 11BR020 ENSG00000140612.14 ENSG00000259663.2 -/- -/- chr15:84716025 chr5:51383806 CDS/splice-site exon translocation 0 3 0 259 26 medium out-of-frame . . . . ENSG00000140612.14 ENSG00000259663.2 ENST00000559729.5 ENST00000601500.1 upstream downstream . ^(ACAGAGGCCCGCCTTCCGAAGGTGGCAGAGCAGCCTCCCCAACTAAGCCTGGGTCGCCGCCTCGGTGAAGGGCCGCGGGGCCGAGCGCGGGAAGTGGCGTCCAGTCGGTTTTTGGCAGGCGAGAGCCAGAGCGTGAGAACCCTCCCACGGCGAGGCCAAGCCCTGAGACTGGACTAGCAAGGTCGTGAGTCTCTCTGTCAGCTCTCCGCAGCGAAGGGGCGCGGGGGGCGGGGACCGTGCCCGACCGTGCCAGCTCCCGCCCCGGAAGCGGAAGTGCAAGCACTGCGGGGTCCTGTCCAGTGTGAGCCCGACCCGAGCTCCAGTAGTTCCGCCCGCTGGTCATCGCGCCCTTTCCCCTGCCGGTGTCCTG)CTCGCCGTCCCCGCCATGCTGTCTCTAGACTTTTTGGACGATGTGCGGCGGATGAACAAGCGGCAG|GCAATGACTCCAACTCCAAAGAGCCCTTGGCACCTCAGCCTGTGCCTGAGAGAGAACCCCGCACAAGAACAGCACACCGAGCCCCACAAG___AACTCCTAAGTGACCAGGAAC(AGACGATTTTTAACCGAGTTCTGCTGCGTGGAGCCCAGGTTGGCGCTAGTGAGTGCAGTGTGCTGACCCAAGTGGTGGTGGCCCAAGGACGCGCTGACCCGTACATTTGGCAAAGCTTTCATTAAATGTATCAGATTCTCGCGGAAGTGGTTGCAGTCCGGAGAGTGAAACAGCTATCTCTCAAGTCCTGACCGGTTCAGCTGAAATCTACATTTGCACTGAATCTGGCAAAACACGGACGGGTCCGCCCGAGATCTCAGGAAACCCAGAGCAAGTTACCTCCATGTAGTTGATCATTCTTTCTGAAAGGACGGACACCATTTACCCCACTGCAATCCTGTCCAACGGGCAGCTCTGAGTTTAGCTTTAGCGCCAAAGGATTGATTTCCCCCACCCGCTGGAGATTTACTGGGGACGAGCGGGGGAGGGGAGGCGAAGGTACCTCGGAGGAGGTCAAGTGGGGGAGGAGGAGGAGCAGCAGAAAATTACCAGCCAAGCAGGGGAGGGAGTTGGAAGCCCGGAAATATACCAGGATGCCTCAAGTAACCTTCCTTTAAGTCTCAGAATTCAGCCCTCGGAAAACAGCCTCATAAGGTGTCCTGGGAAGGAGTCCTCGGGTGGGCTGCGGAGGTGATGTCAAGAGTTACAGCTACTTTATGAATTAAACTGACGGCTAAGGCATGTCGGGACAGTTTAGTGTAAGCTGAATGGTGCGTGGACGGGGCAACTTTTAAAGAGAGGTGGGCAATCATTGGTGGCATCTACCAGTATATTCTGCATGTAACAGTAGTTTGGAAGCTGAAGAAAAACCCCTCAAATCCCAGTAAATGCCCGGTCAGTTCGAGAGAGATTTTAGGGACAATTTTGAAGGTCGCTGTCTGCTCCAACTCCGCAGAGATGAACAAGAGTGTGAACTCTGGCGCGGGTGTGTTTAGAATTATCTACGACTTCAGATCCATGCTGTTGAAACTCATCAATTCTTTGTGACTTCACGTGGAGAGAAGAATTTGCCCTGCCTCCCTACCTGCTAAATGCCGACTGAGAAAAGGGGCCCAGGAGACGACCCCTTTCAGAAAGAACGTCACTTCATCAACTCGGCTGAGTTATTAACTTGCTCCCCGAAAGGTCAACAACGCCTTCTCTTCTCAGCCGCACCGCGCGGAGATCAATCGCTTTACCCTAGGTAGCCTCTTGTTCAGGGCTCAGGAACTCCTGTCTTAAGGTCCTTCTGGGGCTCAGAAGCTGTGTTGTGTATGTTCTTTCCAAGAATCCCACCTGTCTGCTTTCAAGCACACACGGCGCTAGAAATTTAGCCTAGCCTGAGTCCTGGGATGAGAGAAGAGCTAAACAAAGAGACCCCAACCGTCCCCTTGGCCCCCTGCCCCGCCGTTTTGCAGTTTGCCAACCTTCTAGCTAGACAGCCCCCTAAGTCTCCGTGTTGCGAGTGAAAGAGAATTTTTCTATTTCATCTTCCCATTGACCGAAGCAGAAAAATTGAACCGAATCTACGCCCCTTGTTCTGATTCCTGCTAGAGGAAAACAGAAAATCATCCCGCAGGTCTCTTTCAGTCCCTGGATGGCGAGCGCAGCCCCTGGGAGGCCACACTTAGTTCTTTATTGTGAATCTCTCGCTACTCAAGTTCGTTCGGGACCAGGGCCTCGGATGGCCTCGGTTGCCCGTAAGTACGCGAAAGAAGAGGTGAATCCAATCGCTGGCCTAGAGGATAGTGATCAGACAACCCGAGGATTACTAAACAAGGGGCGGCGGTGTCCCTGTCTCATGGGGTTGGCGTGGGGCGGGGGGTAGGCAGCAAGATCCTCCAGGCTCCTGGATGCAAAGAGTGAGAAAGAAAGCGCAGCCTCTGGCAGCCTGCTTATAAATGCAGCCTTTCGGAAGATGAAACTTGCAGTCTTAGGTTGTCCTCCTTTATATCCATGTTCCAATCCTCTGGGCTTTCCTCGAAATGAATAAAATTGTGGAAATGAATGAATGAGAATATCACTTTAATTGTTTCAAACTCATTGTCAAGTCACCTTTTCTGCCATCTGCCAGAGGTTCAATTTGCGCTTCGTGTCTACATTCCAGAAAATTGTAAGGACGTTTCCTCTGCATCTGTCTGCCTTGTTGGCAGCGTGCGGAAACGATAACTGCACAGTTATTGGTACAGAATATTTTCATGACTAGCTTAATTCTAAATATCACCCCAAAATACAGATACCTTACTTCTTAGTTGGCATTATTCAAGTTTATTCACTTTGTGCTGCAAATGTTTGAATTAGAAAACAGGAGAGAACTCCCGCAGCAGAGATGCACTTCTCTGCTCTCCTGTCAGTCACAGAACCCACACTGGGTGATTAGCCAGAGGGGCGGGCTCCTTTGTTGACTTAAGAGTTCACCAGGCAAGATGGAACAATTATCTTGTTGCCTCTTCTTAACTGTCTATTGTTGACTTACTTCTAGTATGCTTCCATTGTACAAAATTCTATCCAAAATTGAAGAATAAATCGTAAGTTAAAAAGGTAATAATGATAATAGGTCTACTTTAATTTTACCTGGCTTTGTTAATAGATAGTCTATACCTGACAGTCATATACATAAGAGATGTCGAAAGTATATAGCATATCATTTATGTATAATTATATATGTTATAATTATATGCTAATGATACCATCATTTAACGTTACAAGGTAATTCTATAGAAAACTTGAAGTTCTATTTTTGATATATATAACACCCTCTTTACAAGAAAATAATTGTCAGGCTTAAAAATGATATTCAAGGGTGCTTTTATCAAGAGAACAAAATCTGAAGCTTCATGAACTAAAATCCTATCAAGCAAGGTGGTCCATAACTAGGTTGCTTTGGGTTAATGATAACTTAAAATACTCTTGTTTTTGTAACTTTTTGTGCACAAAGTGCACATTTTACAGTTGTGCATGTCAATGTGTGTTTTACCACTTATTATTCTGAAACCTTCAGTCACATCATTTCAGCAGGAAATAAAACCTGAATAAGTCCTAGGCAATGTGTAAGGAATAAGTATGGTTTAACTTTTGTAGCTTAACAATATTGTGCTGATCTTTAAATGCAAATATTAATATATTGAAATTAATATAAGTAGATAATTTCATCACCTCCTAATTTATAAAAAATGGAAAAGCAAATATAACAAGCTGCTTTACTTTCTATAATGTCTATTTAAGGACCTATTACCAAAATATAGTAATAATAGGATTCATGTATGTGTAACACATATGTAGCTATCACTCTATTATTGGAGAGTTCAGTCTAGTTATAAACACACTGAACTATCATATGATGTGTGCCATTACTTGAATGTTGCTAAATTGATGCTATGCTATATTTTAAGACTCTCCCTCCTCTTTCCAGATACATGTACTAGCCCAGGAAGATCCCTGCATCTTGAACAGTAATGCTGAATCGGAAACTATGTCGTTACCCATAAGTAGAATCCTCCTGACTTTCACTTAAATATCAGGACCCAAATTATTTTATGTCTCACTTCAGAACATAGCACAATGTGCTATTTTATCTTCTTGGCCCAGTCTTTAGATTTATTCTATACTCTCCGTGTTACAAGCTGCACAAACCATTGGTGACAATGAGAACCACTCTATATAGTTTTACTGACTTTGGATTCTCATATAATGTATGAACAAATATAAGCCATATCTTTTAGGTCTTGACGATGTGTTTCTTCCAATTCTGAAGTGTTCGTATAGTTGTCCCTAATGTCACGTGATACGTCTCTTCGTTGTCCTATACCCGAGCCATAGCAGATCTGATGTGACTTTGGATATACCATGTGAGGGCAAGCATTTTCTTTTAGGCTAGGCCATCAATGAGGAAGAAACATGAGTAGAGCTCTTAAAGCAGAGGAAAATGTAAGTGGATGGAAAAAAATCACACTTTTGAATATAGTATTGGAGAAAGAATTGAGTGTGGGTGACTTTATTAGCTAGCAGAAGAAAGAGTGAAAATAGGTGCTTGGCTAAGATGAGAAAAGTATTCAATTTTGAAAACAGAAAGAGAAAGCTTATTTAGAAAAAGAAAACATGGAGTAAATGTCAAGAGGAACATAAAGAAATAGGGCGTGGTGACCCAGTTCATTCTGATAGAATAGGCGTTTAAGGGCAAAACCCAGATCCGAAATAGGTAGTGGATGGAACTAGGGAACAGTAGATTCATAATTATTTTAACTTGGCATTTAAAACTTTAAAATCTGAGTTGAGGGGTTTTTTTTAATGGTAGAAAAGCAGCTTATTTGGCAATAATTTTAAAAACTTCTGTCGCATCTTTAATCATACTAGACTGTTCACCTTTGTAAACTCCTCACTATCAGTAAACTGTCAGTACACTGTCAGTACAGAAAATACAAACTAAAAGTACTAGAAATATCACAATACGGATTTCTCTTTTTAATGTAACTAGGTTTATCTAACAATAAGATTCAGGATTCAGAAAAGAAAAAAGACCAGATCTGAGAAGGAATTTTAAAAAATGGTTTCAAAGTTTTCCAGAGTTTTGTTAGCCATTGCCCTTTCTGCAGACGTGGTTATATCAGAAAGTGTAATTCAAGTATTTGCACTGCTTACTTAAACCACAATAAAAAGGGAAAGATGTTGTGAAAACACTGCCTCATGCTCAAATTTATGCAAAACAACTTGAAAGGCTGCCAGCAACACTGTTGTTATGTTAGCAGTTCTGATCTGGCTTCACATTCTCCTAGAGGAGTTCTTCTGATGTGAGAAGAATGTAAACCCAAACCACAAGGGAGTATTCATTGTACCTATGCACTTGGGAAGAGTTTGGGTGCCCAAAATGTCAGAAAAATCAGATACAGTTGTTCTCTTAGAATCTATTCTGGAGGTCACAAGGTCAGAATGCCTGCACATGTGCATAAACCAACATGCCCATAAAAGCCTGATAGGAGGCAGCAGTGCCCCATAAAAGGTCACACCCAGCCAGAATCCAGCAACGTTGGAACAGCGTCTGTTATGGAGAAGAAATATGTGTCTGACAGCAGCAACAGCAGCAGCAGAGAAAGATGGATTGGGGATTAATCATGGTAAGATACTGAGCAAAAGAGACAACAAATTCTGCCAAGCATGAATCCTTCTCTACTCACAGGTTTCACAAAATACACTCTTCAAAGTACAAGCTGGTTGGCCAAGGTCAGGTTGATCTTTGCTAGGCTAAAGAAGCAGCTGCGGAGTGTTTCCCACGGCAGATGGAGAACACCTAAGGATTTTTTACTGTTAAAAAAATAATAATTTGTGTTTCAACAGTAGAAATACTCCTGATAACACACGTGATCAAAATTGCATTCCCCCTCAGTTCTCATGACATTCACTTTGGGGTAATACCATTTAAAAAATATTATTGGTAGCTGTTAGCCTGTGGCTTTCCAGGACCTTACTTTTAATGTATTTCCCTTGTCTTTCTAGATTTAACATATTGCCTCATTTCATAATCTCCCTTCATTGAGATCATTTGTATAAGCAAAACATGTTACATGACAGTCTTTGGAAGACTGAATAGGCGCCACTAAATTGTGCAGTTTAGAGGGCTCTAGGCAAGGCCACCCAGACTGAAATGGTAGCCCCTCTATATCTGTCAAAGCATCTCAAATAACTCTAAGAAAGATTTACTACTTTGACAATCATAAAGACTCTTTAGTTTTCAGGAGGTTTTGTTTAGTTTTGTTGGTTGGTTATTTAATGCCAAAGCTTTCTGTAATTGATTTTTCCTGCTTCTTTACCCATTTGTACCATTATGAAGATTTCTATAATAAGCATGCCAATAATAAGAAAAAAGAAGGAAAGAAGGAGTTGAAAAGGAAATAAAGATGATAAACCTAAAAATAAATGATACACAATGGAATACTATTCAGCAATTGAAAGAACAACTGATACATACTTTAACATGGGTGGGTGAGTCTCAATATGCTGAGTAAAAGAAGCCAGAACAAAAATGGACACTCTATAATTCTACTTATGTAAAACTCTAGGATATACAAACTAGTGTTTGACAAACTGATAGTGAAAGAAATCAGATGAGTGGTGACTGTGGGATGGAGTAGGCGAAGGGTAGATGGGAAAGGCAGAGATTAAAAAGGGACTAGAGGAAATTTTTGGAAGTGATAGACATATTCCTTAATTTATATTCCTTATTTTTATTGTGGTAGTTTAATGGGGGTATGCTGTGGCAAAGCTTACCAAATTATATATTTTAAATATGGGCAGTTCATTGTGTATCATTTATACCTCAATAAAGCTATTAAAAATAGAAAAGAAA)$ MLSLDFLDDVRRMNKRQ|amtptpkspwhlslclrenpaqeqhtephkns* 11BR020 ENSG00000048471.14 ENSG00000100982.12 +/+ +/+ chr16:12524841 chr20:45947263 CDS/splice-site CDS/splice-site translocation 0 2 0 8 107 medium out-of-frame . PX_domain(100%),RUN_domain(100%)|Phosphorylated_CTD_interacting_factor_1_WW_domain(100%) . . ENSG00000048471.14 ENSG00000100982.12 ENST00000566228.6 ENST00000372409.8 downstream upstream . ^(GTCTGGAGCTCGGCAGCCGCAGAAGCGGCAGCGGCGGCGGCGCGGCGCAGGCACCGGCCCGGGGAGAGGCACCATGAGCG___GATCACAGAACAATGACAAAAGACAATTTCTGCTGGAGCGACTGCTGGATGCAGTGAAACAG___TGCCAGATCCGCTTTGGAGGGAGAAAGGAGATTGCCTCGGATTCCGACAGCAG___GGTCACCTGTCTGTGTGCCCAGTTTGAAGCCGTCCTGCAGCATGGCTTGAAGAGGAGTCGAGGATTGGCACTCACAGCGGCAGCGATCAAGCAGGCAGCGGGCTTTGCCAGCAAAACCGAAACAG___AGCCCGTGTTCTGGTACTACGTGAAGGAGGTCCTCAACAAGCACGAGCTGCAGCGCTTCTACTCCCTGCGCCACATCGCCTCAGACGTGGGCCGGGGTCGCGCCTGGCTGCGCTGTGCCCTCAACGAACACTCCCTGGAGCGCTACCTGCACATGCTCCTGGCCGACCGCTGCAGGCTGAG___CACTTTTTATGAAGACTGGTCTTTTGTGATGGATGAAGAAAGGTCCAGTATGCTTCCTACCATGGCAGCAG___GTCTGAACTCCATACTCTTTGCGATTAACATCGACAACAAGGATTTGAACGGGCAGAGTAAGTTTGCTCCCACCGTTTCAGACCTCTTAAAGGAGTCAACGCAGAACGTGACCTCCTTGCTGAAGGAGTCCACGCAAGGAGTGAGCAGCCTGTTCAGGGAGATCACAGCCTCCTCTGCCGTCTCCATCCTCATCAAACCTGAACAGGAGACCGACCCCTTGCCTGTCGTGTCCAGGAATGTCAGTGCTG___ATGCCAAATGCAAAAAGGAGCGGAAGAAGAAAAAGAAAGTGACCAACATAATCTCATTTGATGATGAGGAAGATGAGCAGAACTCTGGGGACGTGTTTAAAAAGACACCTGGGGCAGGGGAGAGCTCAGAGGACAACTCCGACCGCTCCTCTGTCAATATCATGTCCGCCTTTGAAAGCCCCTTCGGGCCTAACTCCAATGGAAGTCAGAGCAGCAACTCATGGAAAATTGATTCCCTGTCTTTGAACGGGGAGTTTGGGTACCAGAAGCTTGATGTGAAAAGCATCGATGATGAAGATGTGGATGAAAACGAAGATGACGTGTATGGAAACTCATCAGGAAGGAAGCACAGGGGCCACTCGGAGTCGCCCGAGAA___GCCACTGGAAGGGAACACCTGCCTCTCCCAGATGCACAGCTGGGCTCCGCTGAAGGTGCTGCACAATGACTCCGACATCCTCTTCCCTGTCAGTGGCGTGGGCTCCTACAGCCCAGCAG___ATGCCCCCCTCGGAAGCCTGGAGAACGGGACAGGACCAGAGGACCACGTTCTCCCAGATCCTGGACTTCGGTACAG___TGTGGAAGCCAGCTCTCCAGGCCACGGAAGTCCTCTGAGCAGCCTGTTACCTTCTGCCTCAGTGCCAGAGTCCATGACAATTA___GTGAACTGCGCCAGGCCACTGTGGCCATGATGAACAGGAAGGATGAGCTGGAGGAGGAGAACAG___ATCACTGCGAAACCTGCTCGACGGTGAGATGGAGCACTCAGCCGCGCTCCGGCAAGAGGTGGACACCTTGAAAAGGAAGGTGGCTGAACAGGAGGAGCGGCAGGGCATGAAGGTCCAGGCGCTGGCCAG___AGAGAACGAGGTGCTCAAAGTCCAACTGAAGAAATATGTAGGAGCTGTCCAGATGCTGAAAAGAGAAGGTCAAACAGCTGAAG___TGCCAAATCTTTGGAGTGTTGATGGAGAAGTTACAGTAGCTGAACAGAAGCCGGGAGAAATTGCTGAAGAACTCGCAAGCTCCTACGAAAGAAAGCTCATCGAG___GTGGCAGAGATGCATGGCGAGCTGATTGAGTTCAACGAGCGCCTGCACAGGGCCCTGGTAGCCAAGGAAGCCCTCGTGTCCCAGATGAGGCAGGAGCTCATCGATCTCCGGGGACCG___GTGCCTGGAGATTTGAGTCAAACGTCCGAAGACCAGAGTTTGTCGGATTTTGAAAT___ATCAAACCGGGCGCTGATCAACGTCTGGATCCCCTCAGTGTTTCTCCGGGGCAAAGCAGCAAATGCATTCCACGTGTATCAG___GTCTACATCCGGATAAAAGACGATGAATGGAATATTTATCGCCGGTATACAGAGTTCAGGAGTTTGCACCACAAGTTACAAAACAAGTACCCTCAAGTGAGGGCCTACAACTTCCCACCCAAAAAGGCCATTGGAAACAAG___GATGCCAAGTTTGTGGAGGAACGGAGAAAGCAGCT)CCAGAATTACCTGCGCAGCGTCATGAACAAAGTCATCCAGATGGTCCCCGAGTTCGCTGCCAGCCCCAAGAAGGAGACCCTCATCCAGCTGATGCCCTTCTTCGT|AGACTGCTTGAGAGCTCACCGGAGCCCCTGTCCTTCATCGTGTTCATCCCTGAGTGGCGGGAACCCCCAACACCAGCGCTCACCCGCATGGAGCAGAGCCGCTTCAAACGCCACCAGTTGATCCTGCCTGCCTTTGAGCATGAGTACCGCAGTGGCT(CCCAGCACATCTGCAAGAA___GGAGGAAATGCACTACAAGGCCGTCCACAACACGGCTGTGCTCTTCCTACAGAACGACCCTGGCTTTGCCAAGTGGGCGCCGACGCCTGAACGGCTGCAGGAGCTGAGTGCTGCCTACCGGCAGTCAGGCCGCAGCCACAGCTCTGGTTCTTCCTCATCGTCCTCCTCGGAGGCCAAGGACCGGGACTCGGGCCGTGAGCAGGGTCCTAGCCGCGAGCCTCACCCCACTTAACATATCCTGCGGGGAGGAGGAGCCCCAGGGGTGCTAGTCTGGACTGCTGGGACTCGGGCCCCTGGGGCCTCAGAGGGACCCCGGCTGCCACTGACATATGAAGATTATGGTTCTGCCAGGGCTCCCCTCCCTGCCTGTCCCCAAGTCCTCACCTCAAACTCCCTCCAAGTCCCATGTATATAGGTCCTGATGCCTTCCCAACCCCGCCCCTCACCCTGTTGCCACCTTGTTTCATTTGTAAAAGGAAATACAGAAACCCCCCCAA)$ MSGSQNNDKRQFLLERLLDAVKQCQIRFGGRKEIASDSDSRVTCLCAQFEAVLQHGLKRSRGLALTAAAIKQAAGFASKTETEPVFWYYVKEVLNKHELQRFYSLRHIASDVGRGRAWLRCALNEHSLERYLHMLLADRCRLSTFYEDWSFVMDEERSSMLPTMAAGLNSILFAINIDNKDLNGQSKFAPTVSDLLKESTQNVTSLLKESTQGVSSLFREITASSAVSILIKPEQETDPLPVVSRNVSADAKCKKERKKKKKVTNIISFDDEEDEQNSGDVFKKTPGAGESSEDNSDRSSVNIMSAFESPFGPNSNGSQSSNSWKIDSLSLNGEFGYQKLDVKSIDDEDVDENEDDVYGNSSGRKHRGHSESPEKPLEGNTCLSQMHSWAPLKVLHNDSDILFPVSGVGSYSPADAPLGSLENGTGPEDHVLPDPGLRYSVEASSPGHGSPLSSLLPSASVPESMTISELRQATVAMMNRKDELEEENRSLRNLLDGEMEHSAALRQEVDTLKRKVAEQEERQGMKVQALARENEVLKVQLKKYVGAVQMLKREGQTAEVPNLWSVDGEVTVAEQKPGEIAEELASSYERKLIEVAEMHGELIEFNERLHRALVAKEALVSQMRQELIDLRGPVPGDLSQTSEDQSLSDFEISNRALINVWIPSVFLRGKAANAFHVYQVYIRIKDDEWNIYRRYTEFRSLHHKLQNKYPQVRAYNFPPKKAIGNKDAKFVEERRKQLQNYLRSVMNKVIQMVPEFAASPKKETLIQLMPFFv|dclrahrspcpsscsslsggnpqhqrspawsraasnats* 11BR020 ENSG00000141867.17 ENSG00000285188.1 -/- -/+ chr19:15268905 chr19:18220183 CDS/splice-site intron inversion/5'-5' 1 1 0 61 8 medium out-of-frame . Bromodomain(100%)| . . ENSG00000141867.17 ENSG00000285188.1 ENST00000360016.9 . upstream upstream . ^(GACGTCAGTGCGCTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTGGGCTGTTTGTTCTGGTCTCCCGCAGCCGAGGAGCCGAAGCAGTGGCGGCGGCAGCGGCTGCGGCGGCTGCCGGCGGTGCCCGCGGGCGAGCGCGGCCTGTGAGCTCGGCAGAGCGGCGGGCGGGCCCCGGCGCCGCGCAGGCAGCTCGGGGAGGGGGCGGCGGCAGCGGGCGGACGGCCGGCGGGGGCGGCGTGCGGCCTAGCGTCTCAG___AGTGCCTGGTGAAGAATGTGATGGGATCACTAGCATGTCTGCGGAGAGCGGCCCTGGGACGAGATTGAGAAATCTGCCAGTAATGGGGGATGGACTAGAAACTTCCCAAATGTCTACAACACAGGCCCAGGCCCAACCCCAGCCAGCCAACGCAGCCAGCACCAACCCCCCGCCCCCAGAGACCTCCAACCCTAACAAGCCCAAGAGGCAGACCAACCAACTGCAATACCTGCTCAGAGTGGTGCTCAAGACACTATGGAAACACCAGTTTGCATGGCCTTTCCAGCAGCCTGTGGATGCC)GTCAAGCTGAACCTCCCT___GATTACTATAAGATCATTAAAACGCCTATGGATATGGGAACAATAAAGAAGCGCTTGGAAAACAACTATTACTGGAATGCTCAGGAATGTATCCAGGACTTCAACACTATGTTTACAAATTGTTACATCTACAACAAG|TACTCCTAAAATGTCGTCCAGGCAGTGACTCAACAAAGCTCACCCAGGAAGGTCCGGGAGATGTACTCGGACACCTGGTTCCCGGAGCGGCTGGTTTCGGACAGGTGGGTCAACTCCCGGTTCAGGATCCGCT MSAESGPGTRLRNLPVMGDGLETSQMSTTQAQAQPQPANAASTNPPPPETSNPNKPKRQTNQLQYLLRVVLKTLWKHQFAWPFQQPVDAVKLNLPDYYKIIKTPMDMGTIKKRLENNYYWNAQECIQDFNTMFTNCYIYNK|ys* 11BR020 ENSG00000141867.17 ENSG00000105650.22 -/- -/+ chr19:15268905 chr19:18220183 CDS/splice-site intron inversion/5'-5' 1 1 0 61 8 medium out-of-frame . Bromodomain(100%)| . . ENSG00000141867.17 ENSG00000105650.22 ENST00000360016.9 . upstream upstream . ^(GACGTCAGTGCGCTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTGGGCTGTTTGTTCTGGTCTCCCGCAGCCGAGGAGCCGAAGCAGTGGCGGCGGCAGCGGCTGCGGCGGCTGCCGGCGGTGCCCGCGGGCGAGCGCGGCCTGTGAGCTCGGCAGAGCGGCGGGCGGGCCCCGGCGCCGCGCAGGCAGCTCGGGGAGGGGGCGGCGGCAGCGGGCGGACGGCCGGCGGGGGCGGCGTGCGGCCTAGCGTCTCAG___AGTGCCTGGTGAAGAATGTGATGGGATCACTAGCATGTCTGCGGAGAGCGGCCCTGGGACGAGATTGAGAAATCTGCCAGTAATGGGGGATGGACTAGAAACTTCCCAAATGTCTACAACACAGGCCCAGGCCCAACCCCAGCCAGCCAACGCAGCCAGCACCAACCCCCCGCCCCCAGAGACCTCCAACCCTAACAAGCCCAAGAGGCAGACCAACCAACTGCAATACCTGCTCAGAGTGGTGCTCAAGACACTATGGAAACACCAGTTTGCATGGCCTTTCCAGCAGCCTGTGGATGCC)GTCAAGCTGAACCTCCCT___GATTACTATAAGATCATTAAAACGCCTATGGATATGGGAACAATAAAGAAGCGCTTGGAAAACAACTATTACTGGAATGCTCAGGAATGTATCCAGGACTTCAACACTATGTTTACAAATTGTTACATCTACAACAAG|TACTCCTAAAATGTCGTCCAGGCAGTGACTCAACAAAGCTCACCCAGGAAGGTCCGGGAGATGTACTCGGACACCTGGTTCCCGGAGCGGCTGGTTTCGGACAGGTGGGTCAACTCCCGGTTCAGGATCCGCT MSAESGPGTRLRNLPVMGDGLETSQMSTTQAQAQPQPANAASTNPPPPETSNPNKPKRQTNQLQYLLRVVLKTLWKHQFAWPFQQPVDAVKLNLPDYYKIIKTPMDMGTIKKRLENNYYWNAQECIQDFNTMFTNCYIYNK|ys* 11BR020 ENSG00000108176.15 ENSG00000204161.14(69954),ENSG00000236208.1(37758) -/- ./+ chr10:67805583 chr10:49258354 CDS/splice-site intergenic inversion 1 1 0 84 1 medium out-of-frame . DnaJ_domain(100%)| . . ENSG00000108176.15 . ENST00000225171.7 . upstream upstream . ^(AGAGTTTACAAAGGTCTAGGATGACATCTGGTGTATTGACTGTGGCCAGTCTTAAAGCTAGTTTTTGCTATGTGGAACATGCTGCTCTAATTCAGATTTAAAGAGTTTCTTCCTGTTAATTCGAAGCTCACTGTGCCTCTTGTTTCCGAGGGAAGAAGGACTGATTAAGTCATCTAAATGGATGCAATACTGAATTACAGGTCAGAAGATACTGAAGATTACTACACATTACTGGGATGTGATGAACTATCTTCG___GTTGAACAAATCCTGGCAGAATTTAAAGTCAGAGCTCTGGAATGTCACCCAGACAAGCATCCTGAAAACCCCAAAGCTG___TGGAGACTTTTCAGAAACTGCAGAAGGCAAAGGAGATTCTGACCAATGAAGAGAGTCGAGCCCGCTATGACCACTGGCGAAGGAGCCAGATGTCGATGCCATTCCAGCAGTGGGAAGCTTTGAATGACTCAGTGAAGACG___TCAATGCACTGGGTTGTCAGAGGTAAAAAAGACCTGATGCTGGAAGAATCTGACAAGACTCATACCA)CCAtGATGGAAAATGAGGAATGTAATGAGCAAAGAGAAAGAAAGAAAGAGGAGCTGGCTTCAACCGCAGAGAAAACGGAGCAGAAAGAACCCAAGCCCCTAGAGAAGTCAGTCTCCCCGCAAAATTCAGATTCTTCAG|TTAAAGGTAATCATGTGTCCTATTCTGTCTGATGGAATGGAAATTAATTGTTTTGTGAGAATATTGGAAATCCCTTCAACTGAGAAGAGCAACCTTCAGTCCCCATCATCTGCCTCATTCCTGCTGCCAGCCTGGAATGCTGACATGATGGCTGGAGCTTTGTCAGCTATCTTGGACCATGAGGTGACCTTGAGGA MDAILNYRSEDTEDYYTLLGCDELSSVEQILAEFKVRALECHPDKHPENPKAVETFQKLQKAKEILTNEESRARYDHWRRSQMSMPFQQWEALNDSVKTSMHWVVRGKKDLMLEESDKTHTTmMENEECNEQRERKKEELASTAEKTEQKEPKPLEKSVSPQNSDSS|vkgnhvsysv* 11BR020 ENSG00000254402.7 ENSG00000168079.17 -/+ -/+ chr8:144523333 chr8:27915206 CDS intron duplication 1 1 0 57 12 medium . . . . . ENSG00000254402.7 ENSG00000168079.17 . . downstream upstream . GCGGGTAGCCGGAGGCTTGGCAGGCAACCCGCAGGTCCTCACCCAGGTTGGCTGTGAGCTCCAGCGGCTGCACGTGGACAGAGGGCGGAATGCAGATGAGGCTGCTGTGGGATACGTCCAGGAGACTCTGGAGCGCCAGGCGCGGGGGCTCTGCACACATGATCTTCCTGTCCCTGGAG|GCATCTCTCTGTGACCCTGAGAAGTGGACAAGGCAGGCACTGTCAGCCCCATTTCACAGCCGAGGAGACTCAGGCCCAGAAAGG . 11BR022 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 16 7 0 156 44 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGG)CAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR022 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 20 0 26 93 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) GCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGAC(AG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR022 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 10 0 23 24 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1) GCCATGCCCAGCAGGACCGGCCCCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCcCCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCC(ACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR022 ENSG00000216921.8 ENSG00000220804.8 -/+ +/+ chr2:241897002 chr2:242094887 intron exon/splice-site deletion/read-through/3'-3' 8 10 0 67 117 high . . . . . ENSG00000216921.8 ENSG00000220804.8 . ENST00000614114.4 downstream upstream . GAATTGTCCGTGGGCATTGGGGTGTGGTGTTGCCTGGATAGTGATGTTTGATCTGAGCTCCTGGTCTCACGGTTAGCAACGTGGTGTCTTGTCATTTCCCACCTACTGTTCCAAGgGTGATCACTAAG|GAGAACTATGCCATTTTTGGGTCAGGACTGGAGATCTCCTGGATGGAGTTGGATTAAGACAGAAGATGGCTGGAAGAATTGTGAATCTTGTAGTCAGAAACTTGAAAGAGAGAATAACCATTGTAACATCAGTCACAGCAT___TATCTTAAATAGCGAAGATGGAGAAATACTCAATAATGAAGAGCATGAATATGCATCCAAAAAAAGAAAA(AGGACCATTTTAGAAATGACACAAATACTCAAA___CTGATCCATATGAATTCCTCTTATTAAGAAAAATAAAGCATCCAGGATTCAATGAAGAACTGACTATCACCTTGTTAATCATTCAGAAACATGTTGCAGACTTAAGCCATTTTTGATATAGATACTGAAACAATTACTTGCTAAGAGCAAACTTGAAG___TAACAATTTGGACAAGACAGCAAATGCTATTGTCGAAGTTTTCTAAAGAAGAATCTGAAGTGAAATGACATCAAGAGACCTATCAAGACCTGTATCCAGGAAAAG___ACCAAACCAATGCAGACCAAACCAATGCAGAACTCCTATGTGCTGATGGTGGTCTTACATTTCCCTAAGTTTCTGCCGACTAAACTGTGCACACGTTCTCAGGACCTCCTGAAGCTGCGTCACAGGCACTAATCAAAGAACACAACCAAG___AGTTTGGCCTTTTCTTCAGCACTGGGAATTGTGATCCAAAGCTTTTCCTGATGAAGCACAAAGTTGGAGAAAAAAAAGCAAACTAAACAACAACAATGAAACAGAACAGAGTTAATCTGCTGTAGCTCAAGAGAGGATGTACCTGCCCCCACCCCGCATCCCTGGGCTCGGGTTTGCCTTGCTGACCTCTGCTG)$ . 11BR022 ENSG00000213047.13 ENSG00000285718.2(759455),ENSG00000287364.1(56401) -/- ./- chr1:197642711 chr1:195690765 CDS/splice-site intergenic deletion 5 4 0 39 14 high out-of-frame . DENN_(AEX-3)_domain(100%),uDENN_domain(100%)| . . ENSG00000213047.13 . ENST00000620048.6 . upstream downstream . ^(GCAAGAAGGTGCAGGAGCCGCAGCGGGCGGCCCCGGTCGCAGGAACTGAGAGGCCTCAGCTTTGGTGGCGGCTACCGGCGGAGACGGGGGCGGCGGCCACGCCACCGCTGCTGTCACAGAAAGGCTCTGGTGGGTGGGGTGGGAGGCGGGGAAGTGCCGGGGGCGCAGCCGACATGGGCCCGCCGCCACGGCTGCTGTGAGCAGCCTCTTTCCCTGTGTGGCCGCCGGCGTGGGCGGGGACGGCGCGACCCTCGCGCGGCCGGGCTGCGGGCTTCCAGGCCAGCGCGCGGGGGCCGGACGGACAGCCCCACACCGACATGTAACCATGGACTGCAGGACCAA___GGCAAATCCAGACAGAACCTTTGACTTGGTGTTGAAAGTGAAATGTCATGCCTCTGAAAATGAAG___ATCCTGTGGTATTGTGGAAATTCCCAGAGGACTTTGGAGACCAG___GAAATACTACAGAGTGTGCCAAAGTTCTGTTTTCCCTTTGACGTTGAAAG___GGTGTCTCAGAATCAAGTTGGACAGCACTTTACCTTTGTACTGACAGACATTGAAAGTAAACAGAGATTTGGATTCTGCAGACTGACGTCAGGAGGCACAATTTGTTTATGCATCCTTAG___TTACCTTCCCTGGTTTGAAGTGTATTACAAGCTTCTAAATACTCTTGCAGATTACTTGGCTAAGGAACTG___GAAAATGATTTGAATGAAACTCTCAGATCACTGTATAACCACCCAGTACCAAAGGCAAATACTCCTGTAAATTTGAGTGTG___AACCAAGAGATATTTATTGCCTGTGAGCAAGTTCTGAAAGATCAGCCTGCTCTAGTACCG___CATTCCTACTTCATTGCCCCTGATGTAA)CTGGACTCCCAACAATACCCGAGAGT___AGAAATCTTACAGAATATTTTGTTGCCGTGGATGTGAACAACATGCTGCAGCTGTATGCCAGTATGCTGCATGAAAGGCGCATCGTGATTATCTCGAGCAAATTAAGCACT|AAGGGGACATTTGGATACAGACACAGGCATGAACAGAGGAGAGACCATGTGAAGAGTCACAGGGAGAATGCCATGTGAAGACAGAGGAATGGAATTATCCATCCACATGCAATAAAATGCCAAAGATTGCCAGGAAGTCACCAGAAGCTTGGAAC MDCRTKANPDRTFDLVLKVKCHASENEDPVVLWKFPEDFGDQEILQSVPKFCFPFDVERVSQNQVGQHFTFVLTDIESKQRFGFCRLTSGGTICLCILSYLPWFEVYYKLLNTLADYLAKELENDLNETLRSLYNHPVPKANTPVNLSVNQEIFIACEQVLKDQPALVPHSYFIAPDVTGLPTIPESRNLTEYFVAVDVNNMLQLYASMLHERRIVIISSKLST|kgtfgyrhrheqrrdhvkshrenam* 11BR022 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600849 chr15:39071608 3'UTR exon/splice-site deletion 1 2 0 247 11 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAG)ACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAA|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAG(GACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 11BR022 ENSG00000134061.5(18305),ENSG00000251206.1(52918) ENSG00000249364.6 ./+ +/+ chr5:67215104 chr5:67619791 intergenic exon/splice-site deletion 1 1 0 3 4 high . . . . . . ENSG00000249364.6 . ENST00000668508.1 downstream upstream . ATTCTACCTCCGGAACAATGCTCAGCCCACAGCCCTCATTCCCTCCGTGATGAACAGTAACTGTGGACcTTTGACCTTCCTCTTGAGCTTGGTCTGAGTCTTGGCATTTACAACCACGGCTCTAG|GGGTAAAAGCTGACTTGGCAGAAGCTGTCTGATACTGTGGGTCATCCTGACCTTGAGACTGCGCAACGTGCCCTGGCAGATTCAGAGTGTGTCCTGCTAGAACCCATGTGCTGGACTCATTTCCA___ATCTTATGATGGGGAACACACGAGAAGTATAAACCAAG(TGCAATCGATATCAAAAGGAAGAGATTTCTTCTGTTTGGGGACATGAGGAGTAAGGAACATCACTATCATCCACGTAAGTG___AGTGTGCCTGCAGCATGCATTCATTACTGCATCTGATGGAAGCACAAAGGGAGAGACAAAGATGCAGAGAACAATG___GATATCTGCCAGTGAATGAGTCTGTTGAAATCACCACACCAAATTCAACATTAAGGGCCAACCCTGACCACAGCTGAGCCGTGTGAAGAGGCTGACAGCGGCGTGGCCACCACCCAGGATGGAGAGAAAGGCACTGTGAGGTGTTAATGGAAAAATCCAACTTCCTTTTCTTCCAAAGATGATGACTGAAACCAAAGTGGAGCTTTCCCT___TGTGAAGTGAAAGCAAAGTTTTAAAATTTTTTCTCCTCTGCAAGAAAATATATTTCAGAAAATCTCTATCTCAAAAATGAAGCAATTAAGAACTGTCTGGCTGTGAGGATCTGGCCTCAACTTGACTTAAAGCAACAACTTCAGTTACATATCAAGATGTGCGTGAGAATGAACCTGCTCTGCTCAGCCAACGTGCTGAGTGACTTGATGTTTGTAATAAATAAATAAATAAACAACAAACAGGTTGTCATGAAATATCCTTTGTAATTATAAACACAGGAAACTTTCTGAGATGCAAGTGGGTGTTAAATGGTTCAGCAAAGCCAAGCCAGAGCAGTTGGTGTGCTTTGAAATGAAGCAACATTGGAAAAATGAAATCTACTGAAAGATCACTACGTGTTTCAAAG___AACTGACTAGAACCAGAACTCTTCAGAAAAGAATGTGCTAAAGGTTTGTCCTTGAGAAGTTTCCAAGCCAAGACACTCCTAGGAGCACTTCCCATTGAGGCCGAAAGGCTCATCCACTTACAGCGATTCATGGGAAAAGAGGACAGCACCCTCATCTTTGGTCCAAGAACACAATCCTGAGTGACACAGGATTGCCCTGAAAGTCAACAGCATCCGTCTTACAAAAATCAACAACACTCGCTTTTCAAACTTCCAAAGAATTTACTGGTCTGGTTTGGCCTTTTGGTGCCACATTCCATTCCAGAACCCCAGCTAAAATGTTCTCAAGGGCTGACCAGAGATTCCTCCTCCTTTCTCTGGGCTGGTACAACTTGACCGCTGCTTGACATCAAGGTCAACTGGAGACTGGGAACAGTTATGTAACTGTGTTGTAAATTGAATTAGAGCTGTACATGAGCCCAGACCAAGTAACCAGTGCAGCTCCAGGCAAGAGCAGCAACATGTCCCCCAGAGACAGCATTGGAGGAACAGCTTACTGGGGAATGGAAAAAGGGTATCACAGGGTAAAAAAGAAACCGTCTCTTTCCAGTCCTTCTAAAGTCTGGGCAGTTGGCTGCCCCATCACATGTGGAATAAGAGGGGGGCATTAAGTGCAGAGGGAGCTGGTGTCAGTATGGCAGGCAAACACTGAGGAAAAATCAGCATACATAGTATACACAAAGAGAATGAGAAAAAAATATTTGTAACACCAGAACAGACACCACCCAGATGAAAGAAATAAGAAGGCTTACACGTGGAGAGGAAAAAAGCCTCTGGCAGTGGTCAGTGGACTGTAGAATGAGCAAGAAAGGCATGACCATCCTCCTACCAGTGACTGGTCATTCTGGAGAGGATACATGTGCACAGATCTGGAAAACCAGGGCTGAAAAGCCTTTTGACACCTTTGGTGACCTAGGACATGGTCCCCCAATGTAAGACATCATGCTAGATAGAGGGGAAAATAGTAAGTTTTCTTCAAAGGCAAATGAATACAACTTGAGATAACTTTTGAAAAGAAAAAAGGTACTGGGACCATGGCATGACTTTGATCTGTGCTAACATGACCGCCTGCAGAAGCAGATGAGGAGAGGCAGAATAATGTAAAGCTGAAAGCTTGGAGTCACCAAACCATAGATAGCTTCACCTCTTACCAAGTGCTTGATGTGTGGCTAGGTTCTTAAATCCCCTACAAGTTCCAGCTTCCTCATCTGTAAAAAACGAGCAAGTTAAGACTGGGTGAGTTAATAGATGTAAAAGTACTTAGTACAGTACTCTACAAATAGTAAGTGCCCAATAAATGTTAACTGTTATTATTATGTATTCTGTCCTTCACTATGTTAGGCCCTGGGATGTAGTGGTGACAGGCAAGGCTGCTGCTCTTGTGGTTCTTACATGAAACAAGGGAACAGGGAAATAAACAAAATAAATGCAGACTATGAAAAGTGCTAAAGAATAAATAAA)$ . 11BR023 ENSG00000110075.14 ENSG00000010438.16 +/+ +/+ chr11:68460827 chr9:33796643 5'UTR/splice-site CDS/splice-site translocation 2 59 0 105 150 high . . |Trypsin(100%) . . ENSG00000110075.14 ENSG00000010438.16 ENST00000393800.6 ENST00000342836.8 downstream upstream duplicates(2),mismatches(1) ^GCTTGATACGTCCGCCATTTTGGGCGCTTCGCTGATGGTGTCGGTGAGCGCGTTTCCCGCCTGAGCGCAACTAGCGGCGGGTCGTGGGCACCTCCAG|TTGCTGTCCCCTTTGACGATGATGACAAGATTGTTGGGGGCTACACCTGT---GAGAATTCTCTCCCCTACCAGGTGTCCCTGAATTCTGGCTCCCACTTCTGCGGTGGCTCCCTCATCAGCGAACAGTGGGTGGTATCAGCAGCTCACTGCTACAAGAC___CCGCATCCAGGTGAGACTGGGAGAGCACAACATCAAAGTCCTGGAGGGGAATGAGCAGTTCATCAATGCGGCCAAGATCATCCGCCACCCTAAATACAACAGG?AC(ACTCTGGACAATGACATCATGCTGATCAAACTCTCCTCACCTGCCGTCATCAATGCCCGCGTGTCCACCATCTCTCTGCCCACCACCCCTCCAGCTGCTGGCACTGAGTGCCTCATCTCCGGCTGGGGCAACACTCTGAGCTTTGGTG___CTGACTACCCAGACGAGCTGAAGTGCCTGGATGCTCCGGTGCTGACCCAGGCTGAGTGTAAAGCCTCCTACCCTGGAAAGATTACCAACAGCATGTTCTGTGTGGGCTTCCTTGAGGGAGGCAAGGATTCCTGCCAG___CGTGACTCTGGTGGCCCTGTGGTCTGCAACGGACAGCTCCAAGGAGTTGTCTCCTGGGGCCATGGCTGTGCCTGGAAGAACAGGCCTGGAGTCTACACCAAGGTCTACAACTATGTGGACTGGATTAAGGACACCATCGCTGCCAACAGCTAAAGCCCCCGGTCCCTCTGCAGTCTCTATACCAATAAAGTGGCCCTGCTCTC)$ . 11BR023 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 29 8 0 212 68 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(3) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGC)CAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTC...___...GTCCGTATCTGCTCATTATTTTCTAAC...___TCTTGCCACTTGCCTAGTGAGGCTTTTCCGAACCTGGAAGGAGACGTCTAGAAATCCCAACTTTGCTGT___AACAGACAAAAGGACGTGGAATGTACTTTCTGCTACAGCCATTACAGTCAACTAGATTTGAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR023 ENSG00000011347.10 ENSG00000085063.17 -/+ -/- chr11:61556220 chr11:33710343 intron CDS/splice-site inversion/3'-3' 18 18 0 58 2019 high . . |u-PAR/Ly-6_domain(100%) . . ENSG00000011347.10 ENSG00000085063.17 . ENST00000642928.2 downstream downstream duplicates(1) ACCACCGCCACGAACCACCGACCACCGACCACCGACCACCGAGCAGCCACGGCAGCACACAGCGGGGAGGAAGAAGCGACCACAACCGAGGGGGCGGGACCCAAACGGGCAACCCCATCCTGACTGCACAGAAG___TGGCAGAGGCCGCAGAGGACGACAGTGACGCTAAGGCTGACGGTGATGATGGCAGAGACCAGCAGGACGTCGCGCGAGGGCGCCCCTGGGGAGGACAG|GGTTACAAGTGTATAACAAGTGTTGGAAGTTTGAGCATTGCAATTTCAACGACGTCACAACCCGCTTGAGGGAAAATGAGCTAACGTACTACTGCTGCAAGAAGGACCTGTGTAACTTTAACGAACAGCTTGAAAATGGTGGGACATCCTTATCAGAGAAAAC(AGTTCTTCTGCTGGTGACTCCATTTCTGGCAGCAGCCTGGAGCCTTCATCCCTAAGTCAACACCAGGAGAGCTTCTCCCAAACTCCCCGTTCCTGCGTAGTCCGCTTTCTCTTGCTGCCACATTCTAAAGGCTTGATATTTTCCAAATGGATCCTGTTGGGAAAGAATAAAATTAGCTTGAGCAACCTGGCTAAGATAGAGGGGCTCTGGGAGACTTTGAAGACCAGTCCTGTTTGCAGGGAAGCCCCACTTGAAGGAAGAAGTCTAAGAGTGAAGTAGGTGTGACTTGAACTAGATTGCATGCTTCCTCCTTTGCTCTTGGGAAGACCAGCTTTGCAGTGACAGCTTGAGTGGGTTCTCTGCAGCCCTCAGATTATTTTTCCTCTGGCTCCTTGGATGTAGTCAGTTAGCATCATTAGTACATCTTTGGAGGGTGGGGCAGGAGTATATGAGCATCCTCTCTCACATGGAACGCTTTCATAAACTTCAGGGATCCCGTGTTGCCATGGAGGCATGCCAAATGTTCCATATGTGGGTGTCAGTCAGGGACAACAAGATCCTTAATGCAGAGCTAGAGGACTTCTGGCAGGGAAGTGGGGAAGTGTTCCAGATAGCAGGGCATGAAAACTTAGAGAGGTACAAGTGGCTGAAAATCGAGTTTTTCCTCTGTCTTTAAATTTTATATGGGCTTTGTTATCTTCCACTGGAAAAGTGTAATAGCATACATCAATGGTGTGTTAAAGCTATTTCCTTGCCTTTTTTTTATTGGAATGGTAGGATATCTTGGCTTTGCCACACACAGTTACAGAGTGAACACTCTACTACATGTGACTGGCAGTATTAAGTGTGCTTATTTTAAATGTTACTGGTAGAAAGGCAGTTCAGGTATGTGTGTATATAGTATGAATGCAGTGGGGACACCCTTTGTGGTTACAGTTTGAGACTTCCAAAGGTCATCCTTAATAACAACAGATCTGCAGGGGTATGTTTTACCATCTGCATCCAGCCTCCTGCTAACTCCTAGCTGACTCAGCATAGATTGTATAAAATACCTTTGTAACGGCTCTTAGCACACTCACAGATGTTTGAGGCTTTCAGAAGCTCTTCTAAAAAATGATACACACCTTTCACAAGGGCAAACTTTTTCCTTTTCCCTGTGTATTCTAGTGAATGAATCTCAAGATTCAGTAGACCTAATGACATTTGTATTTTATGATCTTGGCTGTATTTAATGGCATAGGCTGACTTTTGCAGATGGAGGAATTTCTTGATTAATGTTGAAAAAAAACCCTTGATTATACTCTGTTGGACAAACCGAGTGCAATGAATGATGCTTTTCTGAAAATGAAATATAACAAGTGGGTGAATGTGGTTATGGCCGAAAAGGATATGCAGTATGCTTAATGGTAGCAACTGAAAGAAGACATCCTGAGCAGTGCCAGCTTTCTTCTGTTGATGCCGTTCCCTGAACATAGGAAAATAGAAACTTGCTTATCAAAACTTAGCATTACCTTGGTGCTCTGTGTTCTCTGTTAGCTCAGTGTCTTTCCTTACATCAATAGGTTTTTTTTTTTTTTTTTGGCCTGAGGAAGTACTGACCATGCCCACAGCCACCGGCTGAGCAAAGAAGCTCATTTCATGTGAGTTCTAAGGAATGAGAAACAATTTTGATGAATTTAAGCAGAAAATGAATTTCTGGGAACTTTTTTGGGGGCGGGGGGGTGGGGAATTCAGCCACACTCCAGAAAGCCAGGAGTCGACAGTTTTGGAAGCCTCTCTCAGGATTGAGATTCTAGGATGAGATTGGCTTACTGCTATCTTGTGTCATGTACCCACTTTTTGGCCAGACTACACTGGGAAGAAGGTAGTCCTCTAAAGCAAAATCTGAGTGCCACTAAATGGGGAGATGGGGCTGTTAAGCTGTCCAAATCAACAAGGGTCATATAAATGGCCTTAAACTTTGGGGTTGCTTTCTGCAAAAAGTTGCTGTGACTCATGCCATAGACAAGGTTGAGTGCCTGGACCCAAAGGCAATACTGTAATGTAAAGACATTTATAGTACTAGGCAAACAGCACCCCAGGTACTCCAGGCCCTCCTGGCTGGAGAGGGCTGTGGCAATAGAAAATTAGTGCCAACTGCAGTGAGTCAGCCTAGGTTAAATAGAGAGTGTAAGAGTGCTGGACAGGAACCTCCACCCTCATGTCACATTTCTTCAATGTGACCCTTCTGGCCCCTCTCCTCCTGACAGCGGAACAATGACTGCCCCGATAGGTGAGGCTGGAGGAAGAATCAGTCCTGTCCTTGGCAAGCTCTTCACTATGACAGTAAAGGCTCTCTGCCTGCTGCCAAGGCCTGTGACTTTCTAACCTGGCCTCACGCTGGGTAAGCTTAAGGTAGAGGTGCAGGATTAGCAAGCCCACCTGGCTACCAGGCCGACAGCTACATCCTCCAACTGACCCTGATCAACGAAGAGGGATTCATGTGTCTGTCTCAGTTGGTTCCAAATGAAACCAGGGAGCAGGGGAGTTAGGAATCGAACACCAGTCATGCCTACTGGCTCTCTGCTCGAGAGCCAATACCCTGTGCCCTCCACTCATCTGGATTTACAGGAACTGTCATAGTGTTCAGTATTGGGTGGTGATAAGCCCATTGGATTGTCCCCTTGGGGGGATGAGCTAGGGGTGCAAGGAACACCTGATGAGTAGATAAGTGGAGCTCATGGTATTTCCTGAAAGATGCTAATCTATTTGCCAAACTTGGTCTTGAATGTACTGGGGGCTTCAAGGTATGGGTATATTTTTCTTGTGTCCTTGCAGTTAGCCCCCATGTCTTATGTGTGTCCTGAAAAAATAAGAGCCTGCCCAAGACTTTGGGCCTCTTGACAGAATTAACCACTTTTATACATCTGAGTTCTCTTGGTAAGTTCTTTAGCAGTGTTCAAAGTCTACTAGCTCGCATTAGTTTCTGTTGCTGCCAACAGATCTGAACTAATGCTAACAGATCCCCCTGAGGGATTCTTGATGGGCTGAGCAGCTGGCTGGAGCTAGTACTGACTGACATTCATTGTGATGAGGGCAGCTTTCTGGTACAGGATTCTAAGCTCTATGTTTTATATACATTTTCATCTGTACTTGCACCTCACTTTACACAAGAGGAAACTATGCAAAGTTAGCTGGATCGCTCAAGGTCACTTAGGTAAGTTGGCAAGTCCATGCTTCCCACTCAGCTCCTCAGGTCAGCAAGTCTACTTCTCTGCCTATTTTGTATACTCTCTTTAATATGTGCCTAGCTTTGGAAAGTCTAGAATGGGTCCCTGGTGCCTTTTTACTTTGAAGAAATCAGTTTCTGCCTCTTTTTGGAAAAGAAAACAAAGTGCAATTGTTTTTTACTGGAAAGTTACCCAATAGCATGAGGTGAACAGGACGTAGTTAGGCCTTCCTGTAAACAGAAAATCATATCAAAACACTATCTTCCCATCTGTTTCTCAATGCCTGCTACTTCTTGTAGATATTTCATTTCAGGAGAGCAGCAGTTAAACCCGTGGATTTTGTAGTTAGGAACCTGGGTTCAAACCCTCTTCCACTAATTGGCTATGTCTCTGGACAAGTTTTTTTTTTTTTTTTTTTTTAAACCCTTTCTGAACTTTCACTTTCTATGTCTACCTCAAAGAATTGTTGTGAGGCTTGAGATAATGCATTTGTAAAGGGTCTGCCAGATAGGAAGATGCTAGTTATGGATTTACAAGGTTGTTAAGGCTGTAAGAGTCTAAAACCTACAGTGAATCACAATGCATTTACCCCCACTGACTTGGACATAAGTGAAAACTAGCCAGAAGTCTCTTTTTCAAATTACTTACAGGTTATTCAATATAAAATTTTTGTAATGGATAATCTTATTTATCTAAACTAAAGCTTCCTGTTTATACACACTCCTGTTATTCTGGGATAAGATAAATGACCACAGTACCTTAATTTCTAGGTGGGTGCCTGTGATGGTTCATTGTAGGTAAGGACATTTTCTCTTTTTCAGCAGCTGTGTAGGTCCAGAGCCTCTGGGAGAGGAGGGGGGTAGCATGCACCCAGCAGGGGACTGAACTGGGAAACTCAAGGTTCTTTTTACTGTGGGGTAGTGAGCTGCCTTTCTGTGATCGGTTTCCCTAGGGATGTTGCTGTTCCCCTCCTTGCTATTCGCAGCTACATACAACGTGGCCAACCCCAGTAGGCTGATCCTATATATGATCAGTGCTGGTGCTGACTCTCAATAGCCCCACCCAAGCTGGCTATAGGTTTACAGATACATTAATTAGGCAACCTAAAATATTGATGCTGGTGTTGGTGTGACATAATGCTATGGCCAGAACTGAAACTTAGAGTTATAATTCATGTATTAGGGTTCTCCAGAGGGACAGAATTAGTAGGATATATGTATATATGAAAGGGAGGTTATTAGGGAGAACTGGCTCCCACAGTTAGAAGGCGAAGTCGCACAATAGGCCGTCTGCAAGCTGGGTTAGAGAGAAGCCAGTAGTGGCTCAGCCTGAGTTCAAAAACCTCAAAACTGGGGAAGCTGACAGTGCAGCCAGCCTTCAGTCTGTGGCCAAAGGCCCAAGAGCCCCTGGCAACCAACCCACTGGTGCAAGTCCTAGATTCCAAAGGCTGAAGAACCTGGAGTCTGATGTCCAAGAGCAGGAAGAGTGGAAGAAAGCCAGAAGACTCAGCAAACAAGGTAGACAGTGTCTACCACCATAGTGGCCATACCAAAGAGGCTACCGATTCCTTCCTGCTACCTGGATCCCTGAAGTTGCCCTGGTCTCTGCACCTTCTAAACCTAGTTCTTAAGAGCTTTCCATTACATGAGCTGTCTCAAAGCCCTCCAATAAATTCTCAGTGTAAGCTTCTGTTGCTTGTGGACAGAAAATTCTGACAGACCTACCCTATAAGTGTTACTGTCAGGATAACATGAGAACGCACAACAGTAAGTGGTCACTAAGTGTTAGCTACGGTTATTTTGCCCAAGGTAGCATGGCTAGTTGATGCCGGTTGATGGGGCTTAAACCCAGCTCCCTCATCTTCCAGGCCTCTGTACTCCCTATTCCACTAAACTACCTCTCAGGTTTATTTTTTTAAATTCTTACTCTGCAAGTACATAGGACCACATTTACCTGGGAAAACAAGAATAAAGGCTGCTCTGCATTTTTTAGAAACTTTTTTGAAAGGGAGATGGGAATGCCTGCACCCCCAAGTCCAGACCAACACAATGGTTAATTGAGATGAATAATAAAGGAAAGACTGTTCTGGGCTTCCCAGAATAGCTTGGTCCTTAAATTGTGGCACAAACAACCTCCTGTCAGAGCCAGCCTCCTGCCAGGAAGAGGGGTAGGAGACTAGAGGCCGTGTGTGCAGCCTTGCCCTGAAGGCTAGGGTGACAATTTGGAGGCTGTCCAAACACCCTGGCCTCTAGAGCTGGCCTGTCTATTTGAAATGCCGGCTCTGATGCTAATCGGCGACCCTCAGGCAAGTTACTTAACCTTACATGCCTCAGTTTTCTCATCTGGAAAATGAGAACCCTAGGTTTAGGGTTGTTAGAAAAGTTAAATGAGTTAAGACAAGTGCCTGGGACACAGTAGCCTCTTGTGTGTGTTTATCATTATGTCCTCAGCAGGTCGTAGAAGCAGCTTCTCAGGTGTGAGGCTGGCGCGATTATCTGGAGTGGGTTGGGTTTTCTAGGATGGACCCCCTGCTGCATTTTCCTCATTCATCCACCAGGGCTTAATGGGGAATCAAGGAATCCATGTGTAACTGTATAATAACTGTAGCCACACTCCAATGACCACCTACTAGTTGTCCCTGGCACTGCTTATACATATGTCCATCAAATCAATCCTATGAAGTAGATACTGTCTTCATTTTATAGATCAGAGACAATTGGGGTTCAGAGAGCTGATGTGATTTTCCCAGGGTCACAGAGAGTCCCAGATTCAGGCACAACTCTTGTATTCCAAGACACAACCACTACATGTCCAAAGGCTGCCCAGAGCCACCGGGCACGGCAAATTGTGACATATCCCTAAAGAGGCTGAGCACCTGGTCAGGATCTGATGGCTGACAGTGTGTCCAGATGCAGAGCTGGAGTGGGGGAGGGGAAGGGGGGCTCCTTGGGACAGAGAAGGCTTTCTGTGCTTTCTCTGAAGGGAGCAGTCTGAGGACCAAGGGAACCCGGCAAACAGCACCTCAGGTACTCCAGGCCCTCCTGGCTGGAGAGGGCTGTGGCAATGGAAAATTAGTGCCAACTGCAATGAGTCAGCCTCGGTTAAATAGAGAGTGAAGAATGCTGGACAGGAACCTCCACCCTCATGTCACATTTCTTCAGTGTGACCCTTCTGGCCCCTCTCCTCCTGACAGCGGAACAATGACTGCCCCGATAGGTGAGGCTGGAGGAAGAATCAGTCCTGTCCTTGGCAAGCTCTTCACTATGACAGTAAAGGCTCTCTGCCTGCTGCCAAGGCCTGTGACTTTCTAACCTGGCCTCACGCTGGGTAAGCTTAAGGTAGAGGTGCAGGATTAGCAAGCCCACCTGGCTACCAGGCCGACAGCTACATCTTTCAACTGACCCTGATCAACGAAGAGGGACTTGTGTCTCTCAGTTGGTTCCAAATGAAACCAGGGAGCAGGGGCGTTAGGAAGCTCCAACAGGATGGTACTTAATGGGGCATTTGAGTGGAGAGGTAGGTGACATAGTGCTTTGGAGCCCAGGGAGGGAAAGGTTCTGCTGAAGTTGAATTCAAGACTGTTCTTTCATCACAAACTTGAGTTTCCTGGACATTTGTTTGCAGAAACAACCGTAGGGTTTTGCCTTAACCTCGTGGGTTTATTATTACCTCATAGGGACTTTGCCTCCTGACAGCAGTTTATGGGTGTTCATTGTGGCACTTGAGTTTTCTTGCATACTTGTTAGAGAAACCAAGTTTGTCATCAACTTCTTATTTAACCCCCTGGCTATAACTTCATGGATTATGTTATAATTAAGCCATCCAGAGTAAAATCTGTTTAGATTATCTTGGAGTAAGGGGGAAAAAATCTGTAATTTTTTCTCCTCAACTAGATATATACATAAAAAATGATTGTATTGCTTCATTTAAAAAATATAACGCAAAATCTCTTTTCCTTCTAA)$ . 11BR023 ENSG00000169398.19 ENSG00000167632.17 -/- -/- chr8:140789474 chr8:140252929 CDS/splice-site CDS/splice-site deletion 17 18 0 233 89 high in-frame . FERM_central_domain(100%)|Transport_protein_Trs120_or_TRAPPC9__TRAPP_II_complex_subunit(100%) . . ENSG00000169398.19 ENSG00000167632.17 ENST00000522684.5 ENST00000648948.2 upstream downstream duplicates(1),mismappers(8) ^(GACCACTGTGAGCCCGCGGCGTGAGGCGTGGGAGGAAGCGCGGCTGCTGTCGCCCAGCGCCGCCCCGTCGTCGTCTGCCTTCGCTTCACGGCGCCGAGCCGCGGTCCGA___GCAGAACTGGGGCTCCCTTGCATCTTCCAGTTACAAATTCAGTGCCTTCTGCAGTTTCCCCAGAGCTCCTCAAGAATAACGGAAGGGAG___AATATGACAGATACCTAGCATCTAGCAAAATAATGGCAGCTGCTTACCTTGACCCCAACTTGAATCACACACCAAATTCGAGTACTAAGACTCACCTGGGTACTGGTATGGAACGTTCTCCTGGTGCAATGGAGCGAGTATTAAAGGTCTTTCATTATTTTGAAAGCAATAGTGAGCCAACCACCTGGGCCAGTATTATCAGGCATGGAGATGCTACTGATGTCAGG___GGCATCATTCAGAAGATAGTGGACAGTCACAAAGTAAAGCATGTGGCCTGCTATGGATTCCGCCTCAGTCACCTGCGGTCAGAGGAGGTTCACTGGCTTCACGTGGATATGGGCGTCTCCAGTGTGAGGGAGAAGTATGAGCTTGCTCACCCACCAGAGGAGTGGAA___ATATGAATTGAGAATTCGTTATTTGCCAAAAGGATTTCTAAACCAGTTTACTGAAGATAAGCCAACTTTGAATTTCTTCTATCAACAG___GTGAAGAGCGATTATATGTTAGAGATAGCTGATCAAGTGGACCAGGAAATTGCTTTGAAGTTGGGTTGTCTAGAAATACG___GCGATCATACTGGGAGATGCGGGGCAATGCACTAGAAAAGAAGTCTAACTATGAAGTATTAGA___AAAAGATGTTGGTTTAAAGCGATTTTTTCCTAAGAGTTTACTGGATTCTGTCAAG___GCCAAAACACTAAGAAAACTGATCCAACAAACATTTAGACAATTTGCCAACCTTAATAGAGAAGAAAGTATTCTGAAATTCTTTGAGATCCTGTCTCCAGTCTACAGATTTGATAAGGAATGCTTCAAGTGTGCTCTTGGT___TCAAGCTGGATTATTTCAGTGGAACTGGCAATCGGCCCAGAAGAAGGAATCAGTTACCTAACGGACAAGGGCTGCAAT___C)CCACACATCTTGCTGACTTCACTCAAGTGCAAACCATTCAGTATTCAAACAGTGAAGACAAGGACAGAAAAGGAATGCTACAACTAAAAATAGCAGGTGCACCCGAG___CCTCTGACAGTGACGGCACCATCCCTAACCATTGCGGAGAATATGGCTGACCTAATAGATGGGTACTGCCGGCTGGTGAATGGAACCTCGCAGTCATTTATCATCAGACCTCAGAAAG___AAGGTGAACGGGCTTTGCCATCAATACCAAA___GTTGGCCAACAGCGAAAAGCAAGGCATGCGGACACACGCCGTCTCTGTGTCAG|AAAAATTGTATGGCGACTTCTTGAGCTGGAAGCTAGAGGAAACCCTTGCCCAGTTCCCTTTGCAGCCTGGGAAGGTGGCCACGTTCACAATCAACATCAAAGTGAAGCTGGATTTCTCCTGCCAGGAGAATCTCCTGCAGGATCTCAGTGATG___ATGGAATCAGTGTGAGTGGCTTTCCCCTGTCCAGTCCTTTTCGGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACCTGTGAACCCACCCGAGAGCAACAAAGCAGGCGACTACAGCCACGTGAAG___ACCC(TGGAAGCTGTCCTGAATTTCAAATACTCTGGAGGCCCGGGCCACACTGAAGGATATTACAGGAATCTCTCCCTGGGGCTGCATGTAGAAGTCGAGCCGTCTGTATTTTTCACCCGAGTCAGCACCCTCCCAGCAACCAG___TACCCGGCAGTGTCACCTGCTCCTGGATGTCTTCAACTCCACCGAGCATGAGCTGACCGTCAGCACCAGGAGCAGCGAGGCACTCATCCTGCACGCCGGTGAGTGCCAGCG___AATGGCTATTCAAGTGGACAAGTTCAACTTTGAGAGTTTCCCGGAGTCCCCTGGGGAGAAGGGGCAATTTGCAAACCCCAAGCAGCTGGAGGAAGAGCGGCGGGAAGCCCGAGGCCTGGAGATCCACAGCAAGCTGGGCATCTGCTGGAGAATC___CCCTCCCTGAAGCGCAGTGGCGAGGCGAGTGTGGAAGGACTCCTGAACCAGCTCGTCCTGGAGCACCTGCAGCTGGCGCCTCTGCAGTGGG___ATGTGCTGGTGGACGGACAGCCATGTGACCGCGAGGCTGTGGCGGCCTGCCAGGTGGGCGACCCCGTGCGCCTGGAGGTGCGGCTGACCAACCGGAGCCCGCGCAGCGTAGGGCCCTTCGCCCTCACTGTGGTCCCCTTCCAGGACCACCAGAACGGCGTGCACAACTACGACCTGCACGACACCGTCTCCTTCGTGGGCTCCAGCACCTTCTACCTCGACGCG___GTGCAGCCGTCCGGCCAGTCGGCCTGCCTCGGGGCCCTCCTCTTCCTCTACACGGGAGACTTCTTCCTCCACATCCGGTTCCACGAGGACAGCACCAGCAAGGAGCTGCCACCCTCTTGGTTCTGCCTGCCCAGTGTGCACGTGTGTGCCCTGGAGGCGCAGGCCTGAGCCCGCCTACTTCCGTCCCTCTTTCTGCAGGGCCAGAGGTGACCCTGCCTGGCCTCCCACACCCCCTGCAATGAGCAAGGCCTTCACTGCAGCCCCATCTCCTCCTCCTCCCCCAGACCCCTCCCAGCCCTCTCCTCCTGTTCCTCCTGTAGCATCTTTGCTGGGCTACGCAGAAGCCCCGGACATGGCAGCCCCACCCCATGCCACGCCCCTTCCTACACTGTTCCCTGGACCATACACAGGCTGAAGCAGAGGAAATCCCAAAGCGGGTGCCCATCCAGCCCAGGTCCCAGGATCCCTGCACCCATTTCTGTGACCTGGGGCCCCAGCCGTGCTGTGCTGCTCATCCCAGCAGAGGGACCTCCCTCGTCCAGCGACTTCCCTTTGGCCATAGAAAGAAATGGTGAGCATGAGACTGGGCACAGCCTGAGGGCGTGGGCAGCTTCCCACCCTCCCTGGGCCTTGGAATCCCCCAAGGCTGGTTTTCTTCCTGGAGACCCCCATGGGCAACTTGGCAGGAGAGATGGTGCCGTAGGAGGTCGTGGATGGTTGATGCCAAGAGAGGCCCTCCACCCGTGGTGGGCAAATGTCCAGGCCTGGGCTGGCAGCCCAGGGCTGTTTCTGGGTGCTCCCTGGCCCCAGGGTGGCGTCTGGTTACCATGGCTGTGTGTGTCCATGTCTGCAAGCAGTTCTTCAATAAATGGCCTGCCTCCCCCTCCCTGCCTCCCTGCATCTGCTAGCCCAGTGCAGTCCGGGGCCCCCACCCAGCCCGTCAGCCCCCACCTCAGGTGGCTGGCTTCCCAGCAGAAGCCGGACCCAGGAAGGGACGGGTTCTGAGTTAGAGATCTCACATAAGCAAACGCTGAGACAGGAATCTGGTCACCAGCAGCTTGTCTGGGAGGTGGAAGGAGGCCTGCAGGGGAGGGAGATCACCAGTGAAGGAGTGTGACTGGGCCCGAGCTGCCGCCACAGTGGGCAGCTGGCCCTGCGTTCCTCAGGGAGGACCGGAGAGAGAAAGCACACGGCTCACATCTCCCTTGAGGGCCAGAGCTGGGGTGTGTCTACACTACCCACAAGAGTCCTGTTCTGGGGGCAGGCTTCTGGCTGTGTTGACCCTTAGCTCCCCAGGTCCCAGGGAGGATAAACAGCCCTTGGTCCCCAGCAGATACCAGGCTCGTCAGGTGCCCGTTGGGCACTGAAACTCCCATGGAGTATTGGGGGACAGAGAGCGGGGCTTCCTAAAGGCCAGTTGGCCAAACAGGCAGAGCCAGGAAGTGGCTGCCCTGGCCTCCCATGGGGCAGAGTCATGTTGGCATCAGGAGGCCTGCGGGGCTGAGGGAACTTCCTGAGGACCTGAAGTCCCAGGCCCAAACCTCCCTCGCTGGGAGCAAGGTCACCCTGTGGCCTCCGGCCTAAGGAACAAATTTTTTGTTCCATCTGTGGCCTCCTGTTGTCGCTCAGTGAATGATGGGAGCACACTGTGATGTGGTGTGGGCTGGGGGCATGTGGGGGCGGGTGTCCAGTGGCCCTCAGTTCCTGGAGCTCATTCAGCATCTGCTCGAGGCTCCCCAGGGAAGGCAGCCCCAGAAGGTCTGGCTGCAGTAGGGGGTGGAGACCCCAGGGCGGTCTCTTCAGCCCTTCCGTTCAGGATGCCTCAGCGTAGTTGAGGGCCTGGCCACCTGGGCTGTTTCTGAATGGAACAAACAGCATCCATGTGTGTCAACCTCAACAGAGCCCAAAAATACGCCATTGAATGAAACAACACATTGCAGGATGATGGGCTCAGCCCAACCTCACTTGTGTAGACAATGTCCCCCCAAATTATAAATTTTCTATGCCTCAGAACGTGTCTATAACAACATGTTTAAAAGGTAGAAAGGATACACATCCCCTGTAGAAGAGTGACCTGAACTGGAGTTGCATTTGACATCTGATGTCAGCATGAGGGTGCTGGTCACCGGGGACTTGAGTACGTACTTTCCTTTCAAAAGCACAATAGATCAAGATACAGGTACACACATAGCTACAGATATAGATCCAGCCACAGATCCAGATTAGATATAGATGCATATAGAAGCCTAGAAAAGCCAATATGGAAAACTCTGGCAGTGTTTGATTCTGAGTGGCAAGCATATTGGTGACTGTAATTATTTCTTGCAGTTTTCTATATTTTTTAGTTTCCCAAACTGCAAAAAATACCCACAACAGTTACCAGAGAAAATGCTGGATGCCACAAGAAGGAAGAACCTCAAGGGGCAGGAGGCAAAGTTGTCTTCTTGGAGGAGGGGGTGTTAGAAATAACCCAGGCCTCCTGGAAAATGACCCAAATACAGCCTGGCTCTGCCAGCCCCAGGCCCTTCCCCACCCCCAGGGCACCCTTTCTGTCCCAGTAGAGAAGGTGACCTGGAGTCAGGCCTTGTGTGTGCTCCAAGCGTTTGGAGCTTTACCGTGGGATGTGGGGAGCCAGGGGTGTTGTTTGCTGGCATTTCTGTGGCTGGGTCTTTCTGGCTGTGGAGCTGTGTTTGTGGGCAGTGGCTGAGATGGAGGACCTGGGGCAGGTGTCTCAGTGACAGCGCAGTATCCTCCAGCCTCTTCCAGGGCCCCACGCTACTGGCTACCTGGCAATACAGTCCAGCAGTTGCTGCTTCTCTAGGCCCCTGGTGCATTCAGAAACCTCCTGAAGGCCAGCGGAGGGTAAGCCAGGAACAGATCATGTCCATTGCACTTCACTAGCTGAGCGAGTTGGTTCTGCCCTTCTGATCCTTGGTCCCTCAGGGCCAGGACAGGCCCGGTGACCCCATAATCATGCAGCCGTCATGCTCCGTCATCTGAAATTCACAAGGAAGGCAAGGATTCAAAGGAAGATGTCTGAGATGCTGAACTCCAGCTCAGCCACTTGTCAACTCCTTGACCTTGGACAAGTTACTTAAATTAAGCCTTGATTTTTTTTCATCTGAATAAATAGAGATAAAAATACTTATTTCATGGACACTTTCATATCAGTTTATTTGATTTAACCTCCTAGATTTTTTTTTAGCACATGATAGCAACTTCTTAATAAATACTGGGTCCCTTCTCCTAGCCTTCCCATTGCTGTTCTTTTTAATTCCATCCACATGTCCTGTGCCTGAAATATCCTGTGCCATGTGCCTGAAATTCCATTCTTCTCCTGGAACCCTTAACAGGCCACATTGCTATGCTCCGTTAGTCCCCTGCATGGCTTAATGTATTAGGTAACATGAAGCATGTAAGGAAGAACTTTCTAACACAGGTGCTGAAATGGGACAGGAAATGCTGATGGAGTGAGCTCTTTGTCAATAGAAGTATTCAAGCAAA)$ MAAAYLDPNLNHTPNSSTKTHLGTGMERSPGAMERVLKVFHYFESNSEPTTWASIIRHGDATDVRGIIQKIVDSHKVKHVACYGFRLSHLRSEEVHWLHVDMGVSSVREKYELAHPPEEWKYELRIRYLPKGFLNQFTEDKPTLNFFYQQVKSDYMLEIADQVDQEIALKLGCLEIRRSYWEMRGNALEKKSNYEVLEKDVGLKRFFPKSLLDSVKAKTLRKLIQQTFRQFANLNREESILKFFEILSPVYRFDKECFKCALGSSWIISVELAIGPEEGISYLTDKGCNPTHLADFTQVQTIQYSNSEDKDRKGMLQLKIAGAPEPLTVTAPSLTIAENMADLIDGYCRLVNGTSQSFIIRPQKEGERALPSIPKLANSEKQGMRTHAVSVS|eKLYGDFLSWKLEETLAQFPLQPGKVATFTINIKVKLDFSCQENLLQDLSDDGISVSGFPLSSPFRQVVRPRVEGKPVNPPESNKAGDYSHVKTLEAVLNFKYSGGPGHTEGYYRNLSLGLHVEVEPSVFFTRVSTLPATSTRQCHLLLDVFNSTEHELTVSTRSSEALILHAGECQRMAIQVDKFNFESFPESPGEKGQFANPKQLEEERREARGLEIHSKLGICWRIPSLKRSGEASVEGLLNQLVLEHLQLAPLQWDVLVDGQPCDREAVAACQVGDPVRLEVRLTNRSPRSVGPFALTVVPFQDHQNGVHNYDLHDTVSFVGSSTFYLDAVQPSGQSACLGALLFLYTGDFFLHIRFHEDSTSKELPPSWFCLPSVHVCALEAQA* 11BR023 ENSG00000011347.10 ENSG00000284969.1 -/+ -/- chr11:61556220 chr11:33710343 intron CDS/splice-site inversion/3'-3' 18 14 0 58 2019 high . . . . . ENSG00000011347.10 ENSG00000284969.1 . ENST00000534312.5 downstream downstream duplicates(1) ACCACCGCCACGAACCACCGACCACCGACCACCGACCACCGAGCAGCCACGGCAGCACACAGCGGGGAGGAAGAAGCGACCACAACCGAGGGGGCGGGACCCAAACGGGCAACCCCATCCTGACTGCACAGAAG___TGGCAGAGGCCGCAGAGGACGACAGTGACGCTAAGGCTGACGGTGATGATGGCAGAGACCAGCAGGACGTCGCGCGAGGGCGCCCCTGGGGAGGACAG|GGTTACAAGTGTATAACAAGTGTTGGAAGTTTGAGCATTGCAATTTCAACGACGTCACAACCCGCTTGAGGGAAAATGAGCTAACGTACTACTGCTGCAAGAAGGACCTGTGTAACTTTAACGAACAGCTTGAAAATG(___ACACATTCCTGAAGGCGCTAAAAGACGAAAAGTTACAAGGACTGAAGACCAAGCAACCTGGAAAGAAGTCGGCCTCTCTCTCCTGAGGAGCTGCCTACCAGAGCTTGGGCAGCCACCTCCTTAGGTGTTAGTGCTTAGATAATGTGTCCCATTTGTTGTCATTTCAAAGATGGTTATTTTCTGTTCTGTATTTACCGCTGTTCTTGTTGCTACCAGCATGTACTTCACATACAGTGCCCACTTTGTGTGGTAAA)$ . 11BR023 ENSG00000119953.13 ENSG00000119950.21 -/- +/- chr10:110303468 chr10:110276124 CDS/splice-site intron deletion/read-through/5'-5' 12 19 0 85 46 high out-of-frame . . . . ENSG00000119953.13 ENSG00000119950.21 ENST00000369603.10 . upstream downstream mismappers(4) ^(GTTCCTCCCTTCCCCCTCGCCGCCGACCGAGTTCTTCCTTTTCAGACCGGGTCGCCTTGCTGTCGTCGCGGTGATTTTCCTGCTACTGCTACTGCTGCTGCTGCCACCGCCACTACCACTGGGCTCATTTGCCCCGACCCCTTCC)CGCCGCCCCGCCCCCAGCCCCACACAAG___ATGTCAGAGGATTTAGCAAAGCAGCTGGCAAGCTACAAAGCTCAGCTCCAGCAAGTTGAAGCTGCATTATCTGGAAATGGAGAAAATGAAGATTTGCTAAAATTGAAGAAAGATTTACAA|GGAAAACAACTGAGCTGGAATTCTATATGGAAATAATCAGCTAGTTTCAGCTGTCTGAGGATCTGCAATGCACCGACAAATCAGGAGGTACCCAGACCAAAGTTTGAAAAATGCCTAAATGAACAGGGAAGGCAGAATGCTCTAAAAGATATTTTTTTTAGCCACTACTGAACATTTTATTGTCAAATAATTATTCATCTGCTCTGAGATACAGCTTACACCAAGAAAATATACCCTGAGATATCTCACAAAGGCCAGTGATGCC MSEDLAKQLASYKAQLQQVEAALSGNGENEDLLKLKKDLQ|gkqlswnsiwk* 11BR023 ENSG00000158483.16 ENSG00000149269.10 +/+ -/- chr11:71789845 chr11:77343931 CDS/splice-site CDS/splice-site inversion 22 1 4 49 241 high in-frame . |Protein_kinase_domain(100%) . . ENSG00000158483.16 ENSG00000149269.10 ENST00000346333.10 ENST00000356341.8 downstream downstream . ^(CGGCAAGGCTGAG)GCCCCGCCCCCGTCATGGCGCCgGAGGAGAACtCGGGGAGCGAACTCTTGCTGCAGAGTTTCAAGCGCCGCTTCCTGGCgGCGCGCGCCCTGCGCTCCTTCCcCTGGCAG___AGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAG|GTGGCCATTAAGCAGATGAATCTTCAGCAGCAGCCCAAGAAAGAGCTGATTATTAATGAGATCCTGGTCATGAGGGAAAACAAGAACCCAAACATTGTGAATTACTTGGACAG___TTACCTCGTGGGAGATGAGCTGTGGGTTGTTATGGAATACTTGGCTGGAGGCTCCTTGACAGATGTGGTGACAGAAACTTGCATGGATGAAGGCCAAATTGCAGCTGTGTGCCGTGAG___TGTCTGCAGGCTCTGGAGTTCTTGCATTCGAACCAGGTCATTCACAGAGACATCAAGAGTGACAATATTCTG(TTGGGAATGGATGGCTCTGTCAAGCTAA___CTGACTTTGGATTCTGTGCACAGATAACCCCAGAGCAGAGCAAACGGAGCACCATGGTAGGAACCCCATACTGGATGGCACCAGAGGTTGTGACACGAAAGGCCTATGGGCCCAAGGTTGACATCTGGTCCCTGGGCATCATGGCCATCGAAATGATTGAAGGGGAGCCTCCATACCTCAATGAAAACCCTCTGAGA___GCCTTGTACCTCATTGCCACCAATGGGACCCCAGAACTTCAGAACCCAGAGAAGCTGTCAGCTATCTTCCGGGACTTTCTGAACCGCTGTCTCGAGATGGATGTGGAGAAGAGAGGTTCAGCTAAAGAGCTGCTACAG___CATCAATTCCTGAAGATTGCCAAGCCCCTCTCCAGCCTCACTCCACTGATTGCTGCAGCTAAGGAGGCAACAAAGAACAATCACTAAAACCACACTCACCCCAGCCTCATTGTGCCAAGCCTTCTGTGAGATAAATGCACATTTCAGAAATTCCAACTCCTGATGCCCTCTTCTCCTTGCCTTGCTTCTCCCATTTCCTGATCTAGCACTCCTCAAGACTTTGATCCTTGGAAACCGTGTGTCCAGCATTGAAGAGAACTGCAACTGAATGACTAATCAGATGATGGCCATTTCTAAATAAGGAATTTCCTCCCAATTCATGGATATGAGGGTGGTTTATGATTAAGGGTTTATATAAATAAATGTTTCTAGTCTTCCGTGTGTCAAAATCCTCACCTCCTTCATAACCATCTCCCACAATTAATTCTTGACTATATAAATTTATGGTTTGATAATATTATCAATTTGTAATCAATTGAGATTTCTTTAGTGCTTGCTTTTCTGTGACTCAACTGCCCAGACACCTCATTGTACTTGAAAACTGGAACAGCTTGGGAATGCCATGGGGTTTGATAATCTGCCAGGGACATGAAGAGGCTCAGCTTCCTGGACCATGACTTTGGCTCAGCTGATCCTGACATGGGAGAACAACCACATTTTTCTTTGTGTGTGCTTCTAGCAGCTGTTCGGGAGGACCTTGACCCAATAGTGTTCCCATGCTGTTTCTTGTGAAATGCTCTCGGCTATGTAGCAGCTTTTGATTCCCTGCATACCCTAGGCTGCTGCCCCTATCCTGTCCCTTGTTTATAACATTGAGAGGTTTTCTAGGGCACATACTGAGTGAGAGCAGTGTTGAGAAGTCGGGGAAAATGGTGACTACTTTTAGAGCAAGGCTGGGCATCAGCACCTGTCCAGCTCTACTTGTGTGATGTTTCAGGAACTCAGCCCCTTTTTCTGCCTAGGATAAGGAGCTGAAAGATTAACTTGGATCTTCTAATGGTCCAAATCTTTTGGTCACAATAAAGAGTCTCCAAATTAGAGACTGCATGTTAGTTCTGGATGGATTTGGTGGCCTGACATGATACCCTGCCAGCTGTGAGGGGACCCCGTTTTTAAGATGCATGGCCAAGCTCTCTGCAAATGGAAATGCTTACACTGGGTGTTGGGGATGTTTGCTACCTCCTGCTATTTTTGTGGTTTTGGTTCTCCCACTATGGTAGGACCCCTGGCCAGCATTGTGGCTTGTCATGTCAGCCCCATTGACTACCTTCTCATGCTCTGAGGTACTACTGCCTCTGCAGCACAAATTTCTATTTCTGTCAATAAAAGGAGATGAAAATATTC)$ MAPEENsGSELLLQSFKRRFLAARALRSFpWQSLEAKLRDSSDSELLRDILQK|VAIKQMNLQQQPKKELIINEILVMRENKNPNIVNYLDSYLVGDELWVVMEYLAGGSLTDVVTETCMDEGQIAAVCRECLQALEFLHSNQVIHRDIKSDNILLGMDGSVKLTDFGFCAQITPEQSKRSTMVGTPYWMAPEVVTRKAYGPKVDIWSLGIMAIEMIEGEPPYLNENPLRALYLIATNGTPELQNPEKLSAIFRDFLNRCLEMDVEKRGSAKELLQHQFLKIAKPLSSLTPLIAAAKEATKNNH* 11BR023 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 10 16 0 35 47 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(2),low_entropy(1),mismappers(3) GGGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGA(A___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR023 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 15 0 35 37 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCC(GTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11BR023 ENSG00000249859.11 ENSG00000253438.4 +/+ +/+ chr8:127794735 chr8:127339281 intron exon/splice-site duplication 6 14 0 133 58 high . . . . . ENSG00000249859.11 ENSG00000253438.4 ENST00000651587.1 ENST00000646670.1 downstream upstream duplicates(1) ^(AGAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGA)GGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCAG|AGGTGCTTATTTAGCAAATTCAACCTTAAACCTGAGTGCATGGAAACTATTGATGCAGTGTCCAAGGTGGAGAAAGGTCAGAGTGGATCCAGAGGAGCCAAGAGAAGACGTCCAGCATGGTGACCTGGGCTCAAGTCAAGGTCCTTATTTCTCTG(___ATTTCTGTTCAGAAAACACATCTTCAGGAAAATCACCCCTGACTCACCCAGGCTAAGTCACAAGCTTTTGTTATAAGGTCTCATCACACCATATGCCTCTCTTTCAAAACCAGCACCTGCAGAAATGTAAGTGTACATTGATTTATGTAAGTATTTGAATTATGACTGTTTTTGTATATGTCCATGAGCTCCCTGAAGGCAAGTACTTTGTCTGCTTCCGCCTGTTTCATAACTATCATGCCTAACACACAATAACCTCTCAATTAATAGCCAAGTTTATTAGCAAAAAAAATTGACTGAAAAAGTGAATGAACGAAAA)$ . 11BR023 ENSG00000249859.11 ENSG00000253438.4 +/+ +/+ chr8:127796072 chr8:127339281 intron exon/splice-site duplication 0 2 1 7 58 high . . . . . ENSG00000249859.11 ENSG00000253438.4 ENST00000651587.1 ENST00000646670.1 downstream upstream . ^(AGAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA___GATTTATTAGGAGAAAAACCTTCCCGGAAGCTG)CAGAAGGACAAATACAGAATCCGTGTCTGGGAGAAACCTCGTGGCCTGGTCTCCATTATTTGAGATGAGTTACATCTTGGAGGTGAGGACGTGCCTCGTGGTCTAAAGCTTCGGCACAAGGGCCCAACTGGAATTCCACTTACGGG|AGGTGCTTATTTAGCAAATTCAACCTTAAACCTGAGTGCATGGAAACTATTGATGCAGTGTCCAAGGTGGAGAAAGGTCAGAGTGGATCCAGAGGAGCCAAGAGAAGACGTCCAGCATGG(TGACCTGGGCTCAAGTCAAGGTCCTTATTTCTCTG___ATTTCTGTTCAGAAAACACATCTTCAGGAAAATCACCCCTGACTCACCCAGGCTAAGTCACAAGCTTTTGTTATAAGGTCTCATCACACCATATGCCTCTCTTTCAAAACCAGCACCTGCAGAAATGTAAGTGTACATTGATTTATGTAAGTATTTGAATTATGACTGTTTTTGTATATGTCCATGAGCTCCCTGAAGGCAAGTACTTTGTCTGCTTCCGCCTGTTTCATAACTATCATGCCTAACACACAATAACCTCTCAATTAATAGCCAAGTTTATTAGCAAAAAAAATTGACTGAAAAAGTGAATGAACGAAAA)$ . 11BR023 ENSG00000249859.11 ENSG00000253438.4 +/+ +/+ chr8:127818998 chr8:127292812 exon/splice-site exon/splice-site duplication 1 0 1 1 1 medium . . . . . ENSG00000249859.11 ENSG00000253438.4 ENST00000656168.1 ENST00000642795.1 downstream upstream . GCTGGAGTGCAGTGGCGTGATCATAGCTCACAACAGCCTCTGTCTGCCAGGCTCAAGGGATACTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTGCAG|ACACAGTCAGCCCAATGAAGGAGGAGGAGGAAAAGGAGGAGAAGAAGAAAAGAAAAAGAAAGAAAGAGAGAGGAAGAGGAAGATGATCAGAGTGGAAATGTGGC(CAGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAG___GGTCTGGAGTGGGACATTTTCAGCAGATCATTTTGTTATCATACGAACGCAGCCTAACCACCTGCTACTCCAAGTGAGAGTCAAAATCCAGCAGCATTGGTCTCACCTGAAA___AGAACTGAGGTCGCAAGACAACAAACTGGTCCTAAATAAAAAGTAAGAAAAATGCCGGGGAGGAGCCAAGATGGCCAAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCGGAAAATGGGTGATTTCTGCATTTCCATCGGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACAGTGGGCACAG___AGTCTCACTTGGTTGCTCAGACTGGAGTACAGTGGTACGATCTCGACTCACTGAAACCTCTGCTTCCTGGCTTCAAGCATTTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCCCACCACCAAAAAAAAAATAACCCAGCCTCAG___AGGTGCTTATTTAGCAAATTCAACCTTAAACCTGAGTGCATGGAAACTATTGATGCAGTGTCCAAGGTGGAGAAAGGTCAGAGTGGATCCAGAGGAGCCAAGAGAAGACGTCCAGCATGGTGACCTGGGCTCAAGTCAAGGTCCTTATTTCTCTG)$ . 11BR023 ENSG00000249859.11 ENSG00000253438.4 +/+ +/+ chr8:127794734 chr8:127322073 exon/splice-site exon/splice-site duplication 1 1 0 133 4 medium . . . . . ENSG00000249859.11 ENSG00000253438.4 ENST00000651587.1 ENST00000642795.1 downstream upstream . ^(AGAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGG)GGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA|AGTCTCACTTGGTTGCTCAGACTGGAGTgCAGTGGTACGATCTCGACTCACTGAgACCTCTGCTTCCTGGCTTCgAGCATTTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAG(GCGCCCACCACCAAAAAAAAAATAACCCAGCCTCAG___AGGTGCTTATTTAGCAAATTCAACCTTAAACCTGAGTGCATGGAAACTATTGATGCAGTGTCCAAGGTGGAGAAAGGTCAGAGTGGATCCAGAGGAGCCAAGAGAAGACGTCCAGCATGGTGACCTGGGCTCAAGTCAAGGTCCTTATTTCTCTG)$ . 11BR023 ENSG00000249859.11 ENSG00000253438.4 +/+ +/+ chr8:127816885 chr8:127339281 intron exon/splice-site duplication 0 1 1 1 58 medium . . . . . ENSG00000249859.11 ENSG00000253438.4 ENST00000657183.1 ENST00000646670.1 downstream upstream . ^(GAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGG)AAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA___AGCTTTACAGAAATTCCATGCTGCCTTCAGCTTCCTTTGCCGCTCTGCATCATGTTGG|AGGTGCTTAgTTAGCAAATTCAACCTTAAACCTGAGT(GCATGGAAACTATTGATGCAGTGTCCAAGGTGGAGAAAGGTCAGAGTGGATCCAGAGGAGCCAAGAGAAGACGTCCAGCATGGTGACCTGGGCTCAAGTCAAGGTCCTTATTTCTCTG___ATTTCTGTTCAGAAAACACATCTTCAGGAAAATCACCCCTGACTCACCCAGGCTAAGTCACAAGCTTTTGTTATAAGGTCTCATCACACCATATGCCTCTCTTTCAAAACCAGCACCTGCAGAAATGTAAGTGTACATTGATTTATGTAAGTATTTGAATTATGACTGTTTTTGTATATGTCCATGAGCTCCCTGAAGGCAAGTACTTTGTCTGCTTCCGCCTGTTTCATAACTATCATGCCTAACACACAATAACCTCTCAATTAATAGCCAAGTTTATTAGCAAAAAAAATTGACTGAAAAAGTGAATGAACGAAAA)$ . 11BR023 ENSG00000249859.11 ENSG00000212993.5 +/+ +/+ chr8:127794735 chr8:127339281 intron 5'UTR/splice-site duplication 6 14 0 133 58 high . . |Homeobox_domain(100%),Pou_domain_-_N-terminal_to_homeobox_domain(100%) . . ENSG00000249859.11 ENSG00000212993.5 ENST00000651587.1 ENST00000645438.1 downstream upstream duplicates(1) ^(AGAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGA)GGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCAG|AGGTGCTTATTTAGCAAATTCAACCTTAAACCTGAGTGCATGGAAACTATTGATGCAGTGTCCAAGGTGGAGAAAGGTCAGAGTGGATCCAGAGGAGCCAAGAGAAGACGTCCAGCATGGTGACCTGGGCTCAAGTCAAGGTCCTTATTTCTCTG(___GTCATTCTCTCTGGGTGAATCCAGCTGACATGTTGTGAGGACACTCAAGCAGCTTTATGGAAAAGCCCACATGGTGAGCAACTGAGGCCTCCTACCAACAGCCAACAAGAAACCGGGGCCTTTGCCAACAGCCAA___GAAATAAGAATCAGAAAGAAGGACACACCATTCCATAGCACAGAACACAAGTAGATGGCTCCCATGAAGAATCTAGCATCATGGTATGGCAGAAGCAGAATGGACTCAGGAATCATGGTGCCTACACTGGAATTTCAGATCGGCCACTGACACAATGGACACATTATTCAACATTTCCAAATCTTGGCATTCTTATCCACAAAGTGAAGATAATAATTGTCAATTCACAGGTGATTATGATTTAAAGAGATTACTTTTGAAGAGTTCCTAACACATTCAGTCAACATTTAATGATGCTTCAGGCACTGTGTTCATTGCTAGTGAGCGTATGACACACACAGCCATACGGTCACAGAGCTTTCAATGAAAAGTAACATAATTGCTCATTTCACCAGGCCCCCGGCTTGGGGCGCCTTCCTTCCCCATGGCGGGACACCTGGCTTCGGATTTCGCCTTCTCGCCCCCTCCAGGCGGTGGGGGTGATGGGCCATGGGGGGCGGAGCCGGGCTGGGTTGATCCTCTGACCTGGCTAAGCTTCCAAGGCCCTCCTGGAGGGCCAGGAATCGGGCCGGGGGTTGGGCCAGGCTCTGAGGTGTGGGGGATTCCCCCTTGCCCCCCGCCGTATGAGTTATGTGGGGGGATGGCGTACTGTGGGCCTCAGGTTGGAGTGGGGCTAGTGCCCCAAGGCGGCTTGGAGACCTCTCAGCCTGAGAGCGAAGCAGGAGTCGGGGTGGAGAGCAACTCCAATGGGGCCTCCCCGGAACCCTGCACCGTCCCCCCTGGTGCCGTGAAGCTGGAGAAGGAGAAGCTAGAGCAAAACCCGGAGAAGTCCCAGGACATCAAAGCTCTGCAGAAAGAACTCGAGCAATTTGCCAAGCTCCTGAAGCAGAAGAGGATCACCCTGGGATATACACAGGCCGATGTGGGGCTCATCCTGGGGGTTCTATTTGGGAAGGTGTTCAGCCAAAAGACCATCTGCCGCTTTGAGGCTCTGCAGCTTAGCTTCAAGAACATGTGTAAGCTGCGGCCCTTGCTGCAGAAGTGGGTGGAGGAAGCTGACAACAATGAAAATCTTCAGGAGATATGCAAAGCAGAAACCCTCATGCAGGCCCGAAAGAGAAAGCGAACCAGTATCGAGAACCGAGTGAGAGGCAACCTGGAGAATTTGTTCCTGCAGTGCCCGAAACCCACACTGCAGATCAGCCACATCGCCCAGCAGCTTGGGCTCGAGAAGGATGTGGTCCGAGTGTGGTTCTGTAACCGGCGCCAGAAGGGCAAGCGATCAAGCAGCGACTATGCACAACGAGAGGATTTTGAGGCTGCTGGGTCTCCTTTCTCAGGGGGACCAGTGTCCTTTCCTCCGGCCCCAGGGCCCCATTTTGGTACCCCAGGCTATGGGAGCCCTCACTTCACTGCACTGTACTCCTCAGTCCCTTTCCCTGAGGGGGAAGTCTTTCCCCCAGTCTCCGTCATCACTCTGGGCTCTCCCATGCATTCAAACTGAGGTGCCTGCCCTTCTAGGAATGGGGAACAGGGGAGGGGAGGAGCTAGGGAAAGAGAACCTGGAGTTTGTGGCAGGGCTTTTGGGATTAAGTTCTTCATTCACTAAGGAAGGAATTGGGAACACTAAGGGTGGGGGCAGGGGAGTTTGGGGCAACTGGTTGGAGGGAAGGTGAAGTTCAATGATGCTCTTGATTTTAATCCCACATCATGTATCACTTTTTTCTTAAATAAAGAAGCCTGGGACACAGTAAAAAAAAAAAAAAAA)$ . 11BR023 ENSG00000249859.11 ENSG00000212993.5 +/+ +/+ chr8:127796072 chr8:127339281 intron 5'UTR/splice-site duplication 0 2 1 7 58 high . . |Homeobox_domain(100%),Pou_domain_-_N-terminal_to_homeobox_domain(100%) . . ENSG00000249859.11 ENSG00000212993.5 ENST00000651587.1 ENST00000645438.1 downstream upstream . ^(AGAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA___GATTTATTAGGAGAAAAACCTTCCCGGAAGCTG)CAGAAGGACAAATACAGAATCCGTGTCTGGGAGAAACCTCGTGGCCTGGTCTCCATTATTTGAGATGAGTTACATCTTGGAGGTGAGGACGTGCCTCGTGGTCTAAAGCTTCGGCACAAGGGCCCAACTGGAATTCCACTTACGGG|AGGTGCTTATTTAGCAAATTCAACCTTAAACCTGAGTGCATGGAAACTATTGATGCAGTGTCCAAGGTGGAGAAAGGTCAGAGTGGATCCAGAGGAGCCAAGAGAAGACGTCCAGCATGG(TGACCTGGGCTCAAGTCAAGGTCCTTATTTCTCTG___GTCATTCTCTCTGGGTGAATCCAGCTGACATGTTGTGAGGACACTCAAGCAGCTTTATGGAAAAGCCCACATGGTGAGCAACTGAGGCCTCCTACCAACAGCCAACAAGAAACCGGGGCCTTTGCCAACAGCCAA___GAAATAAGAATCAGAAAGAAGGACACACCATTCCATAGCACAGAACACAAGTAGATGGCTCCCATGAAGAATCTAGCATCATGGTATGGCAGAAGCAGAATGGACTCAGGAATCATGGTGCCTACACTGGAATTTCAGATCGGCCACTGACACAATGGACACATTATTCAACATTTCCAAATCTTGGCATTCTTATCCACAAAGTGAAGATAATAATTGTCAATTCACAGGTGATTATGATTTAAAGAGATTACTTTTGAAGAGTTCCTAACACATTCAGTCAACATTTAATGATGCTTCAGGCACTGTGTTCATTGCTAGTGAGCGTATGACACACACAGCCATACGGTCACAGAGCTTTCAATGAAAAGTAACATAATTGCTCATTTCACCAGGCCCCCGGCTTGGGGCGCCTTCCTTCCCCATGGCGGGACACCTGGCTTCGGATTTCGCCTTCTCGCCCCCTCCAGGCGGTGGGGGTGATGGGCCATGGGGGGCGGAGCCGGGCTGGGTTGATCCTCTGACCTGGCTAAGCTTCCAAGGCCCTCCTGGAGGGCCAGGAATCGGGCCGGGGGTTGGGCCAGGCTCTGAGGTGTGGGGGATTCCCCCTTGCCCCCCGCCGTATGAGTTATGTGGGGGGATGGCGTACTGTGGGCCTCAGGTTGGAGTGGGGCTAGTGCCCCAAGGCGGCTTGGAGACCTCTCAGCCTGAGAGCGAAGCAGGAGTCGGGGTGGAGAGCAACTCCAATGGGGCCTCCCCGGAACCCTGCACCGTCCCCCCTGGTGCCGTGAAGCTGGAGAAGGAGAAGCTAGAGCAAAACCCGGAGAAGTCCCAGGACATCAAAGCTCTGCAGAAAGAACTCGAGCAATTTGCCAAGCTCCTGAAGCAGAAGAGGATCACCCTGGGATATACACAGGCCGATGTGGGGCTCATCCTGGGGGTTCTATTTGGGAAGGTGTTCAGCCAAAAGACCATCTGCCGCTTTGAGGCTCTGCAGCTTAGCTTCAAGAACATGTGTAAGCTGCGGCCCTTGCTGCAGAAGTGGGTGGAGGAAGCTGACAACAATGAAAATCTTCAGGAGATATGCAAAGCAGAAACCCTCATGCAGGCCCGAAAGAGAAAGCGAACCAGTATCGAGAACCGAGTGAGAGGCAACCTGGAGAATTTGTTCCTGCAGTGCCCGAAACCCACACTGCAGATCAGCCACATCGCCCAGCAGCTTGGGCTCGAGAAGGATGTGGTCCGAGTGTGGTTCTGTAACCGGCGCCAGAAGGGCAAGCGATCAAGCAGCGACTATGCACAACGAGAGGATTTTGAGGCTGCTGGGTCTCCTTTCTCAGGGGGACCAGTGTCCTTTCCTCCGGCCCCAGGGCCCCATTTTGGTACCCCAGGCTATGGGAGCCCTCACTTCACTGCACTGTACTCCTCAGTCCCTTTCCCTGAGGGGGAAGTCTTTCCCCCAGTCTCCGTCATCACTCTGGGCTCTCCCATGCATTCAAACTGAGGTGCCTGCCCTTCTAGGAATGGGGAACAGGGGAGGGGAGGAGCTAGGGAAAGAGAACCTGGAGTTTGTGGCAGGGCTTTTGGGATTAAGTTCTTCATTCACTAAGGAAGGAATTGGGAACACTAAGGGTGGGGGCAGGGGAGTTTGGGGCAACTGGTTGGAGGGAAGGTGAAGTTCAATGATGCTCTTGATTTTAATCCCACATCATGTATCACTTTTTTCTTAAATAAAGAAGCCTGGGACACAGTAAAAAAAAAAAAAAAA)$ . 11BR023 ENSG00000249859.11 ENSG00000212993.5 +/+ +/+ chr8:127816885 chr8:127339281 intron 5'UTR/splice-site duplication 0 1 1 1 58 medium . . |Homeobox_domain(100%),Pou_domain_-_N-terminal_to_homeobox_domain(100%) . . ENSG00000249859.11 ENSG00000212993.5 ENST00000657183.1 ENST00000645438.1 downstream upstream . ^(GAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGG)AAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA___AGCTTTACAGAAATTCCATGCTGCCTTCAGCTTCCTTTGCCGCTCTGCATCATGTTGG|AGGTGCTTAgTTAGCAAATTCAACCTTAAACCTGAGT(GCATGGAAACTATTGATGCAGTGTCCAAGGTGGAGAAAGGTCAGAGTGGATCCAGAGGAGCCAAGAGAAGACGTCCAGCATGGTGACCTGGGCTCAAGTCAAGGTCCTTATTTCTCTG___GTCATTCTCTCTGGGTGAATCCAGCTGACATGTTGTGAGGACACTCAAGCAGCTTTATGGAAAAGCCCACATGGTGAGCAACTGAGGCCTCCTACCAACAGCCAACAAGAAACCGGGGCCTTTGCCAACAGCCAA___GAAATAAGAATCAGAAAGAAGGACACACCATTCCATAGCACAGAACACAAGTAGATGGCTCCCATGAAGAATCTAGCATCATGGTATGGCAGAAGCAGAATGGACTCAGGAATCATGGTGCCTACACTGGAATTTCAGATCGGCCACTGACACAATGGACACATTATTCAACATTTCCAAATCTTGGCATTCTTATCCACAAAGTGAAGATAATAATTGTCAATTCACAGGTGATTATGATTTAAAGAGATTACTTTTGAAGAGTTCCTAACACATTCAGTCAACATTTAATGATGCTTCAGGCACTGTGTTCATTGCTAGTGAGCGTATGACACACACAGCCATACGGTCACAGAGCTTTCAATGAAAAGTAACATAATTGCTCATTTCACCAGGCCCCCGGCTTGGGGCGCCTTCCTTCCCCATGGCGGGACACCTGGCTTCGGATTTCGCCTTCTCGCCCCCTCCAGGCGGTGGGGGTGATGGGCCATGGGGGGCGGAGCCGGGCTGGGTTGATCCTCTGACCTGGCTAAGCTTCCAAGGCCCTCCTGGAGGGCCAGGAATCGGGCCGGGGGTTGGGCCAGGCTCTGAGGTGTGGGGGATTCCCCCTTGCCCCCCGCCGTATGAGTTATGTGGGGGGATGGCGTACTGTGGGCCTCAGGTTGGAGTGGGGCTAGTGCCCCAAGGCGGCTTGGAGACCTCTCAGCCTGAGAGCGAAGCAGGAGTCGGGGTGGAGAGCAACTCCAATGGGGCCTCCCCGGAACCCTGCACCGTCCCCCCTGGTGCCGTGAAGCTGGAGAAGGAGAAGCTAGAGCAAAACCCGGAGAAGTCCCAGGACATCAAAGCTCTGCAGAAAGAACTCGAGCAATTTGCCAAGCTCCTGAAGCAGAAGAGGATCACCCTGGGATATACACAGGCCGATGTGGGGCTCATCCTGGGGGTTCTATTTGGGAAGGTGTTCAGCCAAAAGACCATCTGCCGCTTTGAGGCTCTGCAGCTTAGCTTCAAGAACATGTGTAAGCTGCGGCCCTTGCTGCAGAAGTGGGTGGAGGAAGCTGACAACAATGAAAATCTTCAGGAGATATGCAAAGCAGAAACCCTCATGCAGGCCCGAAAGAGAAAGCGAACCAGTATCGAGAACCGAGTGAGAGGCAACCTGGAGAATTTGTTCCTGCAGTGCCCGAAACCCACACTGCAGATCAGCCACATCGCCCAGCAGCTTGGGCTCGAGAAGGATGTGGTCCGAGTGTGGTTCTGTAACCGGCGCCAGAAGGGCAAGCGATCAAGCAGCGACTATGCACAACGAGAGGATTTTGAGGCTGCTGGGTCTCCTTTCTCAGGGGGACCAGTGTCCTTTCCTCCGGCCCCAGGGCCCCATTTTGGTACCCCAGGCTATGGGAGCCCTCACTTCACTGCACTGTACTCCTCAGTCCCTTTCCCTGAGGGGGAAGTCTTTCCCCCAGTCTCCGTCATCACTCTGGGCTCTCCCATGCATTCAAACTGAGGTGCCTGCCCTTCTAGGAATGGGGAACAGGGGAGGGGAGGAGCTAGGGAAAGAGAACCTGGAGTTTGTGGCAGGGCTTTTGGGATTAAGTTCTTCATTCACTAAGGAAGGAATTGGGAACACTAAGGGTGGGGGCAGGGGAGTTTGGGGCAACTGGTTGGAGGGAAGGTGAAGTTCAATGATGCTCTTGATTTTAATCCCACATCATGTATCACTTTTTTCTTAAATAAAGAAGCCTGGGACACAGTAAAAAAAAAAAAAAAA)$ . 11BR023 ENSG00000135018.14 ENSG00000165113.13 -/- -/- chr9:83707500 chr9:83799328 CDS/splice-site CDS/splice-site duplication 6 11 0 117 27 high in-frame . Ubiquitin_family(100%)| . . ENSG00000135018.14 ENSG00000165113.13 ENST00000376395.9 ENST00000376371.7 upstream downstream . ^(AGGGAGGAGGAAGCGGTGGCTGCTGCGGATGTCGGTGTGAGCGAGCGGCGCCTGAACACACGGCGGCTGCCGAGCGCCTGACCCGGGCCTGCGCCAGAGCCTGCACCGAGCTCCGGGGCCCCACACCCGCTACGGTGGCCCTGCGCCCGTTGCTACTGAGGCGGCGTGCTCTGCATTCTTCGCTGTCCAGGCCTGCCGGCTCTGGTGTCTGCTGGCTCCTCCTTGCTCGCCTGCTCCCTCCTGCTTGCCTGAGTCACCGCCGCCGCCGCCGCCA)CAGCCATGGCCGAGAGTGGTGAAAGCGGCGGTCCTCCGGGCTCCCAGGATAGCGCCGCCGGAGCCGAAGGTGCTGGCGCCCCCGCGGCCGCTGCCTCCGCGGAGCCCAAAATCATGAAAGTCACCGTGAAGACCCCGAAGGAAAAGGAGGAATTCGCCGTGCCCGAGAATAGCTCCGTCCAGCAG|CTCAGGAATCTTGCTTTTAAGAAAATTCCCCAGAAATCCTCCCATGCTGTTTGTAACGCTCAACATGATCTTCCATTGTCAAACCCAGTACAGAAGGATTCACGAGAAGAAAATTGGCAAGAGTGGAGACAAAGAGATGAGCAG___CTGACATCTGAAATGTTTGAAGCAGATCTTGAGAAGGCATTGTTAC(TAAGTAAACTAGAATATGAAGAGCACAAAAAG___GAGTATGAAGATGCTGAAAATACTTCAACTCAGTCCAAAGTTATGAATAAAAAAGATAAAAGAAAGAATCATCAGGGAAAAGACAGACCTCTCACAGTATCACTAAAAGATTTTCATTCGGAAG___ATCACATTAGTAAAAAGACTGAG___GAATTGAGTTCTTCTCAGACTTTATCACATGATGGAGGATTCTTCAATAGACTGGAAGATGATGTTCATAAAATTCTTATTAGAGAAAAACGAAGAGAACAGCTTACAGAATATAATGGAACAGATAATTGTACAGCTCATGAACACAACCAG___GAAGTGGTTCTGAAAGATGGAAGAATTGAAAGACTAAAGTTAGAGCTTGAAAGGAAAGATGCTGAAATCCAGAAGCTGAAAAATGTAATCACTCAATGGGAG___GCAAAGTATAAGGAAGTAAAGGCAAGAAATGCACAATTATTGAAAATGCTTCAGGAAGGTGAAA___TGAAAGATAAGGCAGAAATACTTCTGCAAGTTGATGAATCACAAAGTATCAAGAATGAGCTCACTATTCAG___GTGACTTCACTTCATGCTGCATTAGAACAAGAAAGATCTAAAGTGAAAGTATTACAAGCAGAGTTAGCCAAATACCAG___GGTGGCAGAAAAGGGAAAAGAAACTCTGAATCCGACCAGTGTAGGTGATTACATTAGCCTTTGAAGTCAACACAAAGTTTAAAACTTCCAGGATTTTGCAAAGTTGTATATATTTAATGCTGTGCAACTGCTAAACTATGCAGTTTTTCTTGAAGGAACTAAAAGCAACTAGCTCCCTAATGGTCTATAATTTTATTTCTTTTGGCTTAAAGTGAAAAAGAAGAAATAGAGAATTCCAGCAGAATTCAGTGGTTGTCTACTATCCATACTTCTTATCACTTTAGTTTTTCATCAGTCAATAAAATTAATTTACTCTTCCA)$ MAESGESGGPPGSQDSAAGAEGAGAPAAAASAEPKIMKVTVKTPKEKEEFAVPENSSVQQ|LRNLAFKKIPQKSSHAVCNAQHDLPLSNPVQKDSREENWQEWRQRDEQLTSEMFEADLEKALLLSKLEYEEHKKEYEDAENTSTQSKVMNKKDKRKNHQGKDRPLTVSLKDFHSEDHISKKTEELSSSQTLSHDGGFFNRLEDDVHKILIREKRREQLTEYNGTDNCTAHEHNQEVVLKDGRIERLKLELERKDAEIQKLKNVITQWEAKYKEVKARNAQLLKMLQEGEMKDKAEILLQVDESQSIKNELTIQVTSLHAALEQERSKVKVLQAELAKYQGGRKGKRNSESDQCR* 11BR023 ENSG00000253649.5 ENSG00000253641.6(1858),ENSG00000272505.1(2561) -/- ./- chr8:10497712 chr8:10484246 CDS/splice-site intergenic deletion/read-through 5 11 0 48 86 high out-of-frame . Trypsin(100%)| . . ENSG00000253649.5 . ENST00000647727.1 . upstream downstream duplicates(1),low_entropy(1) ^(GGCAATTTTGGACTGGAATTGACAAGAAGATGTTCCAGCTTCTAATTCCCCTGCTTTTGGCACTCAAGGGACATGCCCAGGACAATCCAG___AAAACGTACAATGTGGCCACAGGCCTGCTTTTCCAAACTCGTCATGGTTACCATTTCATGAACGGCTTCAAGTCCAGAATGGTGAGTGCCCGTGGCAAGTGAGTATCCAGATGTCACGGAAACACCTCTGTGGAGGCTCAATCTTACATTGGTGGTGGGTTCTGACAGCCGCACACTGCTTCCGAAGAACCCT___ATTAGACATGGCCGTGGTAAATGTCACTGTGGTCATGGGAACGAGAACATTCAGCAACATCCACTCGGAGAGAAAGCAAGTGCAGAAGGTCATTATTCACAAAGATTACAAACCGCCCCAGCT)CGACAGTGACCTCTCTCTGCTTCTACTTGCCACACCAGTGCAATTCAGCAATTTCAAAATGCCTGTCTGCCTGCAGGAGGAGGAGAGGACCTGGGACTGGTGTTGGATGGCACAGTGGGTAACGACCAATGGGTATG|AGTAGAATCCTGTTTCCTTCTGAAGCCCTTCCTAATTGATATACTTAGGGCCATCTTCCTTAACACCCCAGACCTGCTGGTTTCGGAGCCATCGACCTCCTCATTTCCACCGCAGAGGGCTGGAGGAGATTCAGAAAATCAGGGCAGGGCCCAGGAGAAG___GTTCTTTCAGAGCATGGCTTCAGCCTGGTTACTTCTGACACCAGCCAGGAGGAACAGACTTCTTCCCCATACAGCAGGTACCACCAGAAGTACCTGAGCAAGATC...ACCGGAGTGTCCTGTCCACGGGGCATTTGTTACGGACAAAGATTTGTGTGGCCTTTCACTTTGCACGCTGAAGCTTAACCCTGGCTGCAACGGGACGGGGGGCCACCAAGGAAGTCATTAAGGTTAACTAAGGTATAGGGTGGTGCCCTG MFQLLIPLLLALKGHAQDNPENVQCGHRPAFPNSSWLPFHERLQVQNGECPWQVSIQMSRKHLCGGSILHWWWVLTAAHCFRRTLLDMAVVNVTVVMGTRTFSNIHSERKQVQKVIIHKDYKPPQLDSDLSLLLLATPVQFSNFKMPVCLQEEERTWDWCWMAQWVTTNGY|e* 11BR023 ENSG00000102572.14 ENSG00000165621.8(75072),ENSG00000233124.2(99310) -/- ./- chr13:98519243 chr13:97069441 CDS/splice-site intergenic deletion 6 7 1 362 25 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000102572.14 . ENST00000539966.5 . upstream downstream . ^(GCCCGCGGGCCTCGCCGCCCCGCGCGGATCGTCGCGGCCCGGCCGTCCCGTCCCAGGAAGTGGCCGTCCTGAGCGCCATGGCTCACTCCCCGGTGCAGTCGGGCCTGCCCGGCATGCAG___AACCTAAAGGCAGACCCAGAAGAGCTTTTTACAAAACTA)GAGAAAATTGGGAAGGGCTCCTTTGGAGAGGTGTTCAAAGGCATTGACAATCGGACTCAGAAAGTGGTTGCCATAAAGATCATTGATCTGGAAGAAGCTGAAGATGAGATAGAGGACATTCAACAAGAAATCACAGTGCTGAGTCAGTGTGACAGTCCATATGTAACCAAATATTATGGATCCTATCTGAAG|GTCAGAAGGAAGTTTGATGAGCTCACCACGCAAGACTACATGGTTACTGACTGGAATGGCCATCAGGAGGGCAGAGAGCCACTGCGCCTCTTTCTGCTGAGGGTTGTGGATACAGATGGGAATTTGAAACCTTCTTTCCTGTTTGTGTGAAAAATTCAGACTACTGGCAAATTCTACCCTGGAAACTGACTATGGGTCAATGGGAGTCCGCTGGCGAATGGATACCGCCTGTTCTGTTTCCAATTCATCAGGAACCATGTGGAGAATTAATATCCTGCCCGTCCAGAAGGAAGGGAGTTATTATGGACAGCAAAGAGGAAAGGTAGCCAAGTTCAGATGTTCCCCAGGCTGTGGCTGCTGAAAGTCAAAC MAHSPVQSGLPGMQNLKADPEELFTKLEKIGKGSFGEVFKGIDNRTQKVVAIKIIDLEEAEDEIEDIQQEITVLSQCDSPYVTKYYGSYLK|vrrkfdelttqdymvtdwnghqegreplrlfllrvvdtdgnlkpsflfv* 11BR023 ENSG00000162105.19 ENSG00000248671.8 -/- -/- chr11:71113293 chr11:71674782 CDS/splice-site exon/splice-site duplication 1 7 0 85 24 high out-of-frame . N-terminal_or_F0_domain_of_Talin-head_FERM(100%)| . . ENSG00000162105.19 ENSG00000248671.8 ENST00000601538.5 ENST00000664227.1 upstream downstream . ^(CTCTAGAATACAGACAGTTCCTGCTCTAAGAGGCCATCTGTGAGGCTCAGTCTCCCAACACCTCTG___ACACAGGCAGCCATGCCGCGCAGCCCAACATCCAGCGAGGACGAGATGGCCCAGAGCTTCTCCGACTACTCCGTGGGGTCGGAGTCAGACAGCTCCAAAGAAGAGACCATCTATGACACGATCCGGGCCACTGCGGAGAAGCCGGGCGGTGCCAGGACGGAGGAGAGCCAGGGCAACACGCTGGTGATCCGCGTGGTCATCCATGACCTGCAGCAGACG___AAATGCATTCGATTTAACCCGGATGCCACAGTGTGGGTTGCAAAGCAGCGGATCCTGTGTACATTAACCCAGAGTTTGAAAGATGTCCTGAACTACGGCCTGTTCCAGCCGGCCAGCAATGGGCGTGACGGCAAGTTCCTGGATGAGGAGCGGCTCCTGCGCGAGTACCCACAGCCCGTGGGTGAGGGCGT)TCCTTCCCTGGAG___TTTCGATACAAGAAGCGGGTGTATAAACAAGCCAGTCTCGATGAGAAACAGTTGGCCAAGCTCCACACGAAG|TCTACAGGTGTATCCAGCAGCTCCAGAGAGACAGCGACCAGGGAGAAGGGGCCATGATGACGGTGGTGGTTTTGTCAAAACGAAAAGGGGGATATGTAGGGGAAAGAAAGAGAGATCAGACTGTTACTGTGTCTACATAGAAAGGGAAGACATAAGAGACTC(CATTTTGAAAAAGAACTGTACTTTAAACAATTGCTTTGCTGAGATGTTTTTAATCTGTAGCTTTGCCCCAGCCACTTTTCCCCAACCACTTTGACCCAACCTGGAGCTCAAAAAACATGTGTTGTATGAAATCAAGGTTTAAGGGATGTAGGGCTGTGCAGGACGTGCCTTGTTAACAAAAAGTTTGCCAGCAATATACTTGGTAAAAGTCATCGCCATTCTCTAGTCTCAATAAACCAGGGGCACAATACACTATGGAAAGCTGCAGGGAGCCCTGCCCTTGAAAGCTGAGTATTGTCCAAGGTTTCTCCCCATGTGATAGTCTGAAAAGTGGCCTCGTGGGATGAGAAAGACCTGACAGTCCCCCAGCCCGACACCCATAAAGGGTCTGTGCTGAGGTGGACTAGTCAAAGCGGAAAGCCTCTTGCAGTTGAGAGAGAGGAAGGCCACTGTCTCCTGCCCGCCCCTGGGAACTGAATGTCTCGGTATAAAACCCGATTGTACATTTGTTCAATTCTGAGATGGGGGAAAAACCGCCCTGTGGTGGGAGGTGAGACATGTTTGCAGCAATGCTGCCTTGTTATTCTTTACTCCACTGAGATGTTTGGGTGGAGAGAAACATAAATCTGGCTTACGCACACGTCCAGTCATAGTACCTTCCCTTGAACTTCATTATGACATAGATTCTATTGCTCACATCTTCGTTGCTGACCTTCTCCTTATTATCACCCTGCCC)$ MPRSPTSSEDEMAQSFSDYSVGSESDSSKEETIYDTIRATAEKPGGARTEESQGNTLVIRVVIHDLQQTKCIRFNPDATVWVAKQRILCTLTQSLKDVLNYGLFQPASNGRDGKFLDEERLLREYPQPVGEGVPSLEFRYKKRVYKQASLDEKQLAKLHTK|stgvssssretatrekgp* 11BR023 ENSG00000162105.19 ENSG00000248671.8 -/- -/- chr11:71113293 chr11:71739963 CDS/splice-site exon/splice-site duplication 1 1 0 85 4 medium out-of-frame . N-terminal_or_F0_domain_of_Talin-head_FERM(100%)| . . ENSG00000162105.19 ENSG00000248671.8 ENST00000601538.5 ENST00000664227.1 upstream downstream . ^(CTCTAGAATACAGACAGTTCCTGCTCTAAGAGGCCATCTGTGAGGCTCAGTCTCCCAACACCTCTG___ACACAGGCAGCCATGCCGCGCAGCCCAACATCCAGCGAGGACGAGATGGCCCAGAGCTTCTCCGACTACTCCGTGGGGTCGGAGTCAGACAGCTCCAAAGAAGAGACCATCTATGACACGATCCGGGCCACTGCGGAGAAGCCGGGCGGTGCCAGGACGGAGGAGAGCCAGGGCAACACGCTGGTGATCCGCGTGGTCATCCATGACCTGCAGCAGACG___AAATGCATTCGATTTAACCCGGATGCCACAGTGTGGGTTGCAAAGCAGCGGATCCTGTGTACATTAACCCAGAGTTTGAAAGATGTCCTGAACT)ACGGCCTGTTCCAGCCGGCCAGCAATGGGCGTGACGGCAAGTTCCTGGATGAGGAGCGGCTCCTGCGCGAGTACCCACAGCCCGTGGGTGAGGGCGTTCCTTCCCTGGAG___TTTCGATACAAGAAGCGGGTGTATAAACAAGCCAGTCTCGATGAGAAACAGTTGGCCAAGCTCCACACGAAG|GCTTCCGAGGTGATCGATCGGGCACTGTCGGTCTGCAGCTGCTAAGCCAAGAAGATCTGGGAAGGAGTCAGTCAGAGAGCCTTGGGCTGGAGTTCCAGGGGCTCTGGGAGTGGCTGCCAG(___TCTACAGGTGTATCCAGCAGCTCCAGAGAGACAGCGACCAGGGAGAAGGGGCCATGATGACGGTGGTGGTTTTGTCAAAACGAAAAGGGGGATATGTAGGGGAAAGAAAGAGAGATCAGACTGTTACTGTGTCTACATAGAAAGGGAAGACATAAGAGACTCCATTTTGAAAAAGAACTGTACTTTAAACAATTGCTTTGCTGAGATGTTTTTAATCTGTAGCTTTGCCCCAGCCACTTTTCCCCAACCACTTTGACCCAACCTGGAGCTCAAAAAACATGTGTTGTATGAAATCAAGGTTTAAGGGATGTAGGGCTGTGCAGGACGTGCCTTGTTAACAAAAAGTTTGCCAGCAATATACTTGGTAAAAGTCATCGCCATTCTCTAGTCTCAATAAACCAGGGGCACAATACACTATGGAAAGCTGCAGGGAGCCCTGCCCTTGAAAGCTGAGTATTGTCCAAGGTTTCTCCCCATGTGATAGTCTGAAAAGTGGCCTCGTGGGATGAGAAAGACCTGACAGTCCCCCAGCCCGACACCCATAAAGGGTCTGTGCTGAGGTGGACTAGTCAAAGCGGAAAGCCTCTTGCAGTTGAGAGAGAGGAAGGCCACTGTCTCCTGCCCGCCCCTGGGAACTGAATGTCTCGGTATAAAACCCGATTGTACATTTGTTCAATTCTGAGATGGGGGAAAAACCGCCCTGTGGTGGGAGGTGAGACATGTTTGCAGCAATGCTGCCTTGTTATTCTTTACTCCACTGAGATGTTTGGGTGGAGAGAAACATAAATCTGGCTTACGCACACGTCCAGTCATAGTACCTTCCCTTGAACTTCATTATGACATAGATTCTATTGCTCACATCTTCGTTGCTGACCTTCTCCTTATTATCACCCTGCCC)$ MPRSPTSSEDEMAQSFSDYSVGSESDSSKEETIYDTIRATAEKPGGARTEESQGNTLVIRVVIHDLQQTKCIRFNPDATVWVAKQRILCTLTQSLKDVLNYGLFQPASNGRDGKFLDEERLLREYPQPVGEGVPSLEFRYKKRVYKQASLDEKQLAKLHTK|asevidralsvcsc* 11BR023 ENSG00000124789.12 ENSG00000233939.1(2657),ENSG00000227513.1(36712) -/- ./+ chr6:17661653 chr2:106307854 CDS/splice-site intergenic translocation 1 1 1 88 14 high out-of-frame . Nucleoporin_Nup153-like(100%)| . . ENSG00000124789.12 . ENST00000262077.3 . upstream upstream . ^(ATTCTGGCTCGCGACCGCGGCAGCCGCCTTAGCAGGGGTAATAGGCGCAACGGCGGCGGAGGCTGCAGGGACGACGACGACGACGGCGGCGGGGCGGGCGCTGTGCGCACAGGGGAGGGGTAGGCGGGCGTCGCCAGCGGCTTCAACTGCGGCAGCTACGGCTAGGGCGACGGAAGAACTCCCACCAGTCGGCGGTCGAGTTAGGCCTCAGCACCGCGGGGAACTGTTCGTGCTGTCCTCTGCGGGAGATCTCCATAGAGACCGTGACACACACAGAGGCGGGGGTCCGCAGAGGCGGCCGGACCGGAGCCTCCTCGGCCTCTGCGGCCGCCACCCCCTTCCCCGCTGCCAGCACTCACCCTCTCTCCGCTCCTGCTCGCAACCTCGCGGTTCCTGGGGTGCTTGTGCCCACTGTGTGGACAGCGCGGGCGGACTTTTGGGCCGGGGCCGGGCGGCGGGGGAGGCTCTCTAAGGCCTCCGCCTCTGCCTCTCCCGCCCCCTTACCCGCCCCGGAGCGGGAAGCGGCGGAGGCTCCGCCATGGCCTCGGGAGCCGGAGGAGTCGGAGGGGGCGGTGGCGGCAAGATCCGGACGCGGCGTTGCCACCAGGGGCCAATTAAGCCTTACCAGCAGGGGCGACAACAGCATCAG___GGCATTCTTAGCAGGGTTACAGAATCTGTTAAGAATATTGTGCCAGGGTGGCTACAAAGATACTTCAACAAGAATGAAGATGTATGCAGCTGTTCAACAGACACAAGCGAGGTTCCACGCTGGCCAGAAAATAAAGAGGACCATCTGGTATATGCCGATGAGGAGAGCTCTAATATTACTGATGGGAGAATCACACCTGAGCCAGCAGTCAGTAATACAGAAG___AACCTTCAACAACTAGTACTGCTTCAAATTATCCAGATGTGTTAACAAGGCCTTCTCTTCATCGGAGCCATCTGAATTTTTCCATGTTGGAATCCCCTGCATTACACTGTCAGCCATCTACATCCTCGGCATTCCCAATTGGCAGTTCGGGATTTTCCCTTGTAAAGGAAATTAAAGATTCTACCTCTCAGCATGATGATGATAACATCTCAACTACCAGTGGTTTTTCTTCAAGAGCTTCTGATAAAG___ATATAACTGTTTCAAAGAACACTTCATTGCCACCTCTGTGGTCCCCAGAAGCTGAACGTTCTCACTCACTCTCACAGCACACTGCCACCAGCTCAAAAAAACCAGCATTCAACTTGTCTGCCTTTGGAACACTTTCCCCT___TCACTTGGGAATTCTTCAATCCTTAAAACCAGTCAGCTTGGAGATTCTCCTTTTTATCCTGGAAAAACAACATACGGTGGGGCAGCAGCTGCTGTAAGACAGTCTAAACTACGAAATACACCTTATCAG___GCACCAGTTAGAAGACAAATGAAAGCTAAGCAACTCAGTGCACAATCTTACGGTGTGACCAGTTCAACAGCTCGGCGAATATTGCAGTCTTTAGAGAAGATGTCAAGCCCTTTAGCG___GATGCAAAAAGAATTCCATCCATTGTTTCTTCTCCTCTGAATTCT___CCTCTTGATAGGAGTGGGATAGATATCACAGATTTTCAGGCCAAAAGAGAAAAG___GTGGATTCTCAATATCCTCCTGTTCAGAGACTTATGACCCCAAAGCCAGTTTCCATAGCAACAAATCGAAGTGTTTATTTTAAACCATCTCTGACTCCTTCTGGTGAATTCAGGAAGACTAATCAAAGAATAGATAACAAGTGCAGT___ACTGGATATGAAAAAAATATGACACCCGGACAAAATAGAGAACAACGAGAAAG___TGGCTTTTCATATCCAAATTTCAGTTTGCCTGCAGCCAATGGTTTATCTTCTGGAGTAGGTGGTGGAGGT)GGCAAGATGAGACGAGAAAGAACACGCTTTGTTGCTTCTAAACCTCTGGAGGAGGAG|GTAAATACCTAGAAATGGGATTGCTGGGTCACATG___AAGACCATCCTTCCAATCACAATCCTGATTCAGCAAAATGGTCAGACGACGACAGAGGTGTGAGTGGACCTTCTCCAGGCGACCCAAACTCACTCTGCGTGCCACGTTCAGGTCATGCCACGACAATTTCGCAGTAAGCCCCAGGACCTGGGGCGCGTTTTGAgGCC MASGAGGVGGGGGGKIRTRRCHQGPIKPYQQGRQQHQGILSRVTESVKNIVPGWLQRYFNKNEDVCSCSTDTSEVPRWPENKEDHLVYADEESSNITDGRITPEPAVSNTEEPSTTSTASNYPDVLTRPSLHRSHLNFSMLESPALHCQPSTSSAFPIGSSGFSLVKEIKDSTSQHDDDNISTTSGFSSRASDKDITVSKNTSLPPLWSPEAERSHSLSQHTATSSKKPAFNLSAFGTLSPSLGNSSILKTSQLGDSPFYPGKTTYGGAAAAVRQSKLRNTPYQAPVRRQMKAKQLSAQSYGVTSSTARRILQSLEKMSSPLADAKRIPSIVSSPLNSPLDRSGIDITDFQAKREKVDSQYPPVQRLMTPKPVSIATNRSVYFKPSLTPSGEFRKTNQRIDNKCSTGYEKNMTPGQNREQRESGFSYPNFSLPAANGLSSGVGGGGGKMRRERTRFVASKPLEEE|vnt* 11BR023 ENSG00000141579.7 ENSG00000141579.7 -/- -/- chr17:82831594 chr17:82831631 CDS CDS duplication 5 11 0 52 52 medium out-of-frame . Zinc-finger(100%)| . . ENSG00000141579.7 ENSG00000141579.7 ENST00000269394.4 ENST00000269394.4 upstream downstream duplicates(2) ^(AGTTTCACCCAGCAAGCGTGAGAACAGGTACTGCTTCCTGAGCACCGCCAGCCACCGGCACCAAGACCGGCCACATCCCAGCACTGCCCACCTCTG___CTCCCAGCCGCCAGATGACGGAGGCTCTCGCCAGACCCTCAGCACGCAGAGCTGGCTTCTGATAGAAGTGATCGGGAAAGAAAGCAAAGCGGGAGGTGCCTCTTTAGAAACCACGAAGTGCACGCGGCGTCGACAGTGATCACGCCACCTGGACAGCCAGAGTCCAAGGCATAAGGAGGAAAATGAGTCTCCTCAAAGAGCGGAAGCCAAAAAAGCCACATTACATCCCCAGGCCTCCAGGAAAGCCCTTCAAGTATAAATGTTTCCAATGTCCCTTTACTTGCAATGAGAAGTCACATCTTTTTAATCACATGAAGTATGGTCTTTGTAAAAACTCGATTACTTTAGTATCAGAGCAGGATCGAGTTCCCAAGTGCCCTAAATCTAACTCACTAGACCCCAAGCAAACCAACCAGCCCGATGCCACGGCGAAGCCAGCCTCTTCCAAGTCTGTCGCAAATGGACTCTCTGCCTTCGACTCGAAGCTTCAGCACAGCTCTGCCAGGGAAGACATCAAGGAAAACCTGGAGCTGCAAGCCCGGGGAACCCACAGGTGCCTGGGACAGAAGCCAGCCCTCCACAGGGCATCACCCTGCAAGAGCCCAGCTCCGGAAGCCGCCCTCGGTGCCCAGCCTGCTCTGGAAGGCGCAGCTCGGCCTTCTGCATTTGTTCCAGTCGGCGAGCACAGACTCAAGGGGCCAGACAACGCCGAGGCGCCCGAGACACTGGCTTTACACAACCCCACTGCCAAGGCCGTGTCTTTCCACACCAAGTCGGCCTTCCACACTCCTGGCTACC)CCTGGAAAGCCGGCTCACCTTTCCTTCCACCAGAGTTTCCACATAAAATCTCATCTACAAAGGGGCTTGGGGCCATTTCCCCTTACATGCACCCCACAATCCCAGAGTACCCGCCTCACTTTTACACAGAGCACGGGCTGGCCACCATCTACTCGCCTTACCTGCTGGCTGGGAGCTCGCCTGAGTGTGACGCACCCCTGCTGTCAGTCTACGGAACCCAAGACCCGAGACACTTCCTGCCTCAC|TCTACGGAACCCAAGACCCGAGACACTTCCTGCCTCACCCGGGGCCGATCCCTAAGCACCTGGCTCCATCTCCAGCCACATACGATCACTACAGGTTTTTCCAGCAATATCCCTCTAACCTGCCGATTCCTTACGGATTTTACAGGCCAGAGTCTGCATTTTCCTCCTATGGTCTCAGACTCCCACCTGTCACTGGCCTCACCCGAGATCAGAGCTCTCACCTGCTTGAAGAAGCCACCCTGGTCTATCCAGC(CTCGAGTCCTTCCAGGTTAAACCCTTCGGACCCCAACAGAAAACACGTCGAGTTCGAAAGTCCAATTCCTGAGGCTAAAGACTCCTCCAAGGCTGGGCAGAGAGACACGGAAGGGTCCAAAATGAGCCCCCGCGCAGGGAGTGCAGCCACGGGCTCCCCAGGGAGGCCGAGCCCCACCGACTTCATGCAGACGAGCCAGACCTGCGAAGGCCTGTACGACCTCTCCAACAAGGCAGCCTCCAGCGCACTGGGAAGACTCTACCCGCCAGAGCAAAGCCTCACAGCCTTCAGGCCTGTTAAGAAAAGCACAGAATGCCTACCTGCCCAGGCTGCTGAGACCACAGCAGAGTCTCCAGTAAG___CCTCAATGTTGTGAACGGAGACCCTCCTGCTCCGACCGGAAGCGCCTCTCTCGTCTCGGAGGCCGCGCCTTCCAGTCCGGACGACAGCTCCGGGATGGGCCCCCTCAACCTCTCCAAGAAATCAGAGATAAACCTGGCAGCCACCCACGAACCCACGTACCAAGGCAGCCCCCAGGCGGAAACCGCCAGCTTCTCAGAGCTGCAGGACCTTCCACTCAATCTCTCGGTGAAGGACCCCTGTAACACCCAGGCTCCGAGGCCTGCCTTCCCCGGTCGACCACGAGCTGCAGAACCTGCTGCTGCTGTTCCACAGAAGACTGGGACAGAAGGTTCTGAGGATGGGCCCAGCCACCCTGAGACCAAGCCAGGCAGCCTCGACGGTGACGGGGCCCCACCCACAGGCCCCGGCGAGGAGGCTCCAGACGCATGCGCGGTGGACAGCAGCGAGGAGCAGAAGCAGACGGCAGCCGTGGCCCTGTGCCAGCTGGCGGCCTACAGCCCCAGGAACATCCGGGTGGGCGATGGGGATGCTGCGGCCCCGGAACCTGCCTGCCGGCAAGACACACCCACACTGAGCTCCATGGAGAGCCAAGAGGCCCAGTGTGACCTCAGACCCAAAGGACAAAAGAGGACAAGTCTAAGGGATGCTGGAAAATCCCAGCAAGGAGCTAAGAAGGCGAAGCTGCAGGACACGGCCAGAGTGTTCACACTACGAAGGAGGGCCCGGGTGTCCTAACGCCGGGTTCACACGTGTGTTCACAGAGCTACGGCCACACACACGCCTTCCAAGGTGGCAAGCTACAACACCTCTGAACTGGCACTTTCACATTTTTACAAATGCAGCTGCTGCTTCTCAAAAAAACAAACAAACAAACAAACAAAAAACCCTCCAATTCAGTTTTTATAAATATTAAGCATGAATATTAAAAGGTGCTTCTACTTTTGGTTGTAAAAACACCTGAATGACTCTAAGACTGATATGTATTTTCAAGTCTAAGCTGTCTTACAGAAGATCTTTTATAAATGTTTCCTTATAAATATCTCACCATTACAACAAATTGTTTTAACTGTTTTTCTATTAGCTCTAGCTGCATATTTGATGTAAATGACAATTACTGAAAAAATGTCAGAAAAAACATTTTCAGTACTAACATTAAAGTGCCATATGTAAAAAAGAAAAATGTGATTTGTATAACTAAATAACACACAAACATCAAGAGGCTATTTATACAAATAATTTATTTCCACTAGGGAAAGTGCATTACTGGTGAAGGTATTATCAATTTATTCTACTTGCTTATAATGTTACAGTGAATGTTCTGGCTTACTCTGCCTCACTTTCCATTCCCCAAAATGATGTGTATGTTGCTAATTTTCCAATAAACTCATATGAACCATAAGGAAACATAAAATGCAAATAAACATAAATCTATGTTATCCTTTA)$ MSLLKERKPKKPHYIPRPPGKPFKYKCFQCPFTCNEKSHLFNHMKYGLCKNSITLVSEQDRVPKCPKSNSLDPKQTNQPDATAKPASSKSVANGLSAFDSKLQHSSAREDIKENLELQARGTHRCLGQKPALHRASPCKSPAPEAALGAQPALEGAARPSAFVPVGEHRLKGPDNAEAPETLALHNPTAKAVSFHTKSAFHTPGYPWKAGSPFLPPEFPHKISSTKGLGAISPYMHPTIPEYPPHFYTEHGLATIYSPYLLAGSSPECDAPLLSVYGTQDPRHFLPH|stepktrdtscltrgrslstwlhlqphtittgfssnipltcrfltdftgqslhfppmvsdshlslaspeiraltclkkppwsiqprvlpg* 11BR023 ENSG00000171862.11 ENSG00000227905.1(82430),ENSG00000275015.1(126876) +/+ ./+ chr10:87894109 chr10:88132253 CDS/splice-site intergenic deletion/read-through 4 3 0 164 11 medium out-of-frame . . . . ENSG00000171862.11 . ENST00000371953.8 . downstream upstream mismappers(1) ^(GTTCTCTCCTCTCGGAAGCTGCAGCCATGATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCCTCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTCTTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCGCGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGGTCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGGCTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGGAGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTCGCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGCCAAGTCCAGAGCCATTTCCATCCTGCAGAAGAAGCCCCGCCACCAGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCTCCCAGACATGA)CAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCT___ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAG|GTTGGAAATATTTTTGCAATACCACTGAATCCTCCAGTTTTTACCCCTTACGATGGGAAGTGAATACAGTATGAAAAGGGAGTGGGACATATGAGAGGAACGACAGGCTCAAAATATGAAGACTTAATCCAGAC MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVr|leiflqyh* 11BR023 ENSG00000101350.8 ENSG00000101346.14 +/+ +/+ chr20:32311181 chr20:32228263 CDS/splice-site CDS/splice-site duplication 1 2 0 173 306 medium out-of-frame . Kinesin_motor_domain(100%)| . . ENSG00000101350.8 ENSG00000101346.14 ENST00000375712.4 ENST00000375749.8 downstream upstream . ^(ACTGTCTCTCCCCATCCGGGGCAGCGGGGAATGGCTGAGCCAGGGGTTCGCCGCCCCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCTTTCGGCTCGGGCCTCAG___GACCGTAGCATCCTGAGACATTTTGAATTGACACTTCTCAAGATTTGACTGGATCAGAGTTCATCATGTCAAAGTTGAAAAGCTCAGAGTCAGTCAGGGTGGTGGTTCGCTGTCGGCCCATGAATGGCAAGGAAAAGGCTGCTTCGTATGACAAAGTGGTGGATGTGGATGTTAAGCTGGGGCAGGTGTCTGTGAAGAACCCCAAAGGGACGGCCCATGAAATGCCCAAGACCTTCACCTTTGATGCCGTCTATGACTGGAATGCCAAGCAGTTTGAACTGTACGATGAGACGTTCCGACCACTTGTTGACTCTGTCCTGCAAGGTTTCAATGGAACCATTTTTGCCTATGGACAAACTGGGACAGGAAAAACCTACACCATGGAAGGAATCCGTGGTGACCCTGAAAAAAGAGGAGTCATTCCTAACTCATTTGACCATATCTTCACCCACATCTCTCGATCCCAGAATCAACAATACCTGGTCAGGGCTTCTTACTTAGAGATCTACCAGGAGGAGATCCGAGATTTGCTCTCAAAGGATCAGACCAAAAGGCTTGAGCTCAAAGAGAGGCCTGACACAGGAGTGTATGTGAAAGACCTGTCTTCCTTTGTCACCAAGAGTGTGAAGGAGATAGAGCATGTGATGAATGTGGGGAACCAGAACCGTTCTGTCGGTGCTACCAACATGAACGAGCACAGCTCGCGTTCTCATGCAATTTTCGTTATCACTATTGAGTGCAGCGAGGTGGGCCTCGATGGTGAAAACCACATCCGTGTAGGAAAATTGAACCTTGTAGATCTTGCTGGCAGCGAACGGCAAGCCAAGACCGGCGCACAAGGGGAGAGATTAAAAGAAGCTACCAAGATCAACCTCTCCCTTTCCGCTTTGGGTAATGTCATCTCTGCTCTAGTGGACGGCAAAAGCACTCACATTCCATATCGGGACTCAAAGCTTACCAGGCTCCTCCAAGATTCCCTTGGTGGCAATGCCAAGACTGTGATGGTGGCCAACGTGGGGCCTGCCTCTTACAACGTAGAAGAGACTCTGACCACTCTGCGATATGCCAACCGTGCCAAAAACATTAAGAACAAACCAAGGGTCAATGAGGACCCCAAGGATGCCCTCCTTCGAGAATTCCAGGAAGAGATTGCTCGGCTCAAGGCCCAGCTGGAAAAACGGTCCATTGGTAGGAGGAAGAGGCGAGAGAAGCGGAGGGAAGGTGGTGGCAGTGGTGGGGGTGGGGAAGAGGAGGAGGAGGAGGGAGAAGAGGGTGAGGAGGAAGGG)GATGATAAGGATGATTACTGGCGGGAACAGCAAGAAAAACTGGAGATTGAGAAGCGGGCCATTGTAGAGGATCACAGCTTGGTTGCAGAGGAGAAGATGAGGCTGCTGAAGGAGAAAGAGAAAAAGATGGAGGACCTGCGGCGGGAGAAGGATGCTGCCGAGATGCTGGGCGCCAAGATCAAG|ATTTTCTCCAAAGGAACATCCGGTGCTTGCCCTGCCAGGAGCCCCAGCCCAGTTCCCCGTCCTAGAGGAACACAGGCCACTACAGAAGTACATGGTATGGTCAGACGAAATG(GTGAAGACGGGAGAGGCCCAGATTCATGCCCACCTTGTCCGGCCCTATGTGGGCATTCATCTGCGCATTGGCTCTGACTGG___AAGAACGCCTGTGCCATGCTGAAGGACGGGACTGCAGGCTCGCACTTCATGGCCTCTCCGCAGTGTGTGGGCTACAGCCGCAGCACAGCGGCCCCCCTCACGATGACTATGTGCCTGCCTGACCTGAAGGAGATCCAGAGGGCTGTGAAGCTCTGGGTGAGGTCGCTGGATGCCCAGTCGGTCTACGTTGCTACTGATTCCGAGAGTTATGTGCCTGAGCTCCAACAGCTCTTCAAAGGGAAG___GTGAAGGTGGTGAGCCTGAAGCCTGAGGTGGCCCAGGTCGACCTGTACATCCTCGGCCAAGCCGACCACTTTATTGGCAACTGTGTCTCCTCCTTCACTGCCTTTGTGAAGCGGGAGCGGGACCTCCAGGGGAGGCCGTCTTCTTTCTTCGGCATGGACAGGCCCCCTAAGCTGCGGGACGAGTTCTGATTCTGGCCGGAGCACCAGACCCTCTGATCCTGGAGGGACCAGAGTCTGAGCTGGTCCTTCCAGCCAGGCCTGGCAGCCAGAGGTGCTCCGGGATTGCAAACTCCTCTTCTCACCTGCCAAAGATGGAGAAGAGTGCCAGGGACCCCTCAAGGAGGGAGACGCTCCATATCCCAGGGCATAGGACTTGCAGGTTCCTAGGAGCAGGAGCATCTCCCATCGCACGTGCTTTCTGCTCTTCTGGGAATTTCTCACACTGGCAAAGCAGTCCAGCCTCCGTCTTCTGGTCCACTCTGCTCTGAGCAGCCTGGGATGCTGAACTCTTCAGAGAGATTTTTTTATAGAGAGATTTCTATAATTTTGATACAAGGTCATGACTATCCTAGAACTCTCTGTGGTTTTTGAAAATCATTGAATTCTATTAATGTAGGTACCTAAAGTGACCTTAACTGAATGTGGATGAGGCTGGGGCTGGTGTGGGTCTTTTGGCTGCTTTTCAAGGTGTCCCCCAATGTGGCCCTCAAGAGCCATCCCCACTGCCTGGCCAGAGCCATTGTTGTCCCCTACTTCCTAGGCCATTTCTGGGGCTTGGGGGATGAATGCTGTCCTGTGCTGTAAACACTATGCAAATGGAAGTTATCGGTTGTGGTGCTGTGCAGCGCTCTGTGGGCGACTAAGTGCCACTCACGCAGCATGTTCCTGGCAAGGAGCACATACCATCAAGCCACACTATCATGGTATTGTTCTCACAGTCTTTTGGTGGTTGATGGCCACTGCAAACCTGGCACCATCAGATCTCTTCTGATCTCTTGCCCCAGTGGGGCCTGGTTGGTAGAATGTTGGCATTCGGTTGATATCCAAAGCCTGTTCTCCCAGCCGTCCTCCTGCAGCTGGAGCCTTCAGGCCGTATTCTCACGAGGGAACGTTTGCCAAGGCTCTGACCTCACAGAAGATGCCCAGGGCCCAGAAGCCATCAGAATTATCAGTGGAGAAGCACCTTTTGACTCTTCCCTTCCAATGTAATCTCTGCCAACACCATGAGGCTTAAGGTGCTCTAAGTCATGAGTGTTTTGGTCTCAAATGCTGCAGTTTTAATAATCTGTGACTCCTGAGAGCCCATGGTTTTTTGACCTTGTGGTTCTAAAATTCCTTGTCTGACCCCTGTAGATCTTTTCCTTGCCATGTCACCTCCCTTGGCCTTTGATCCTGGAAAGGTGGCAGAGCCTCCACTGAGCCAGGCCCAGAGCTCCTTGCAGTGCCTTCTTCCTTGTTTACCTGTGGGAGGAAACACTTTTTTTGTCAGGGGCAGCCTGGTTCAGAGCTCAGAGGTCACACTGTATCAAAGATCTCAAACAGCAAAGTCAGCATTTGCTGTATAGAGCTGCCACCCAACTCTAAGCAGGAGAAACTGTACAGAAAGGGCTTTGCTATTTTTCCCTTTTGGGAAAACAATGAAGTGTTTTAAGTCCTGGGTGGACTGAGAGATGGTTTGCCTGTCCAGACTTGCTCTCAAGCCTCATCCAGAGAAGGAGCTGCAGATGAGGGAGCCCGTACACTCCCTGCCACCACTAGGTTGTAAGCCTGTAGCTGGCTGGCTGATTTCATTTTGGAATTCATTTGCCATCCACAGCCTTACACTAGGCACACACTTTAGAGTCTGGGGCTCCAGTGGGGCCCGCCTAATTTTTTTTCCCCCCAAGACAGGGCCTTGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCATGATCATGGCTTACTGCAGCCTTGATCTCCCAGGCTCAAGCGATCCTTCTGCCTCAGCCTCTCTGGTAGCTGAGACTGCATGCCCAGCTCCAAATCACCTTGATTCATATCAGCAGTAATAATCACTTGTGTTCTGAAAGAAAGGGCACCAGAAGTTCTAGCAAAATTCAGTTGTGTTCTGTGAGCTAGCACTTTTTCCTCTGACCCAATTTTCTTACCTATAAAATGGTGATAAAAACCGACAGGTTGTTCAAAGGCCCAGATCAGCTAAAGCATGTATATAAGAGCACGTTGTAAACTTGAAAGAGACAAAGGCACAAATGTGGCTGTTGATTAATTTGACTGCTTCTCGTTGCTCGTCACCTCCATGCCAGGCACTGTGCTTGCTAATTGCTTTATGGGGGCATTCTCTTATTTATTCCCCAGCCCTGGGAAATAGGAGCTGTCATTATCCTTCTCTTTCTGCACAAGGAAAAATTAATGCCCTGAGAATTGTCATAATTTTCCCAAGGCTGCCCAGCTGGTGGTGTTAAGCCAGAATTTGACCTCCCAGAGCCAGTTTCCATTAGCTGCCATGCTCTGCTGCCTCTAATTCACAGAATGCACTTTCTACCCTGTGTGCCATGGAGACCTCCTATGGAAAAATGATCAGCCACCTTACCTTCTACTGGGTACCTGCTGTGAGTCTGCCTATGCCAGAAGGATTAAGGAGGGGAGGTTACCCAAGAAACAAAGCCTACATGCCGCTTACAGCCCCCGTTGGATGGTTGCTCAGTACAACAGTCTTGCATTCAGCAGGTGTTTGTTCATCACCTACTATGTGTCAGGCTCTATGCTAGGTACTGGGGATACAGGAGAGAATCAAGCGTAAAGTCTTTGTTCTCAAGGAATTTGCATTCTAGAAAGTAGAAGATGTAATAAATGTACTGTGGGACATGTTAATAAGTGCTATAAAGAAATATAAAGGGTTTGGGAGCAAAAAGAGGGAGTGGATCTATTTTAGATGAGCCCAGGTAAGACCTCTCTGAAGAGCTGTCATGAAGGAGGGAGGGAGCACATTCCTGGCAGAGAAAACAGCACGTGCAAAGGCCCCGAGACTGGAGTGTGTTCCTGAAGAGCAGCCAGGAGGCCAGCATGGCTGGAGAGGCAGGCATAGGCAGGGAACCGAGCAGCAGGTCAGAGCAGGCGAGCTGACATTCTGCAGCCTGGACGGCCATGGCAGGAAGCTTTTAGTTGGAGAGATACAGGAAGCCTCCTAGGGTTCTGAGCAGAAGAGGGGCATGAGCTGATTCACATTCTGAAGGACCTCTCTAGCTGGCCAGTGCTGAGGAGGTTGGAGAGAGAAAGGGTGAAAGCAGAGAGACCAGTGCAGGGCTGTTAACAGGGTTGCAGGCGAGAGACTGGGGTGCTGGGCTCCCCTAGACTAGGACTCCAGTGCCCTCCTCTCCCAAGAGACAAAGGCCATTGCATTGAAGGAGGTGGGAAATGATTAGATTCTGAACATATGTAATTATTTTTCAGTCTTTTTCAAAGATACAAATATTTACATAGTTTTAATCATGTAATATATACAATTTAATGTCCTAGTGTTTTACTTAATAGTGTATCATGTTTTCCCTGTTGGTATGTAGCCTGGATAAATGCTCTTAATTATAAAAAATTCTGTCGAGGAGTGTTCCATAGTTTATTGTTTTCCTATTATGAGAATTTAGGCCAAGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGCGAGGCCGAGGTGGGCAGATCACTTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAATTATCTCTACTAAAAATACAAAAAAATAATAATAATAGCCAGGCGTGGTGGCACATGCCTGTATTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAGGAGACTTCATGTGCCCCCAATTTTTCACTATTGTTATTTGAAAAAATATTTTTATTTGTAAGAGTTTTTCTTTATTTAAAATGTTCATTAATAAAGTTGTTGGACGGGAAGCAAAAAAAAAAAGTTGTTTAAGATAAATTCCCAGAAGTGAATTTGTTAGATCAAACACTTAAAACTTTTTGTTATGGAAGAATTCAAATATAAATAAAAAATTGTGAGTAATAAAATGAACTCACAGTTTCAACAATGA)$ MSKLKSSESVRVVVRCRPMNGKEKAASYDKVVDVDVKLGQVSVKNPKGTAHEMPKTFTFDAVYDWNAKQFELYDETFRPLVDSVLQGFNGTIFAYGQTGTGKTYTMEGIRGDPEKRGVIPNSFDHIFTHISRSQNQQYLVRASYLEIYQEEIRDLLSKDQTKRLELKERPDTGVYVKDLSSFVTKSVKEIEHVMNVGNQNRSVGATNMNEHSSRSHAIFVITIECSEVGLDGENHIRVGKLNLVDLAGSERQAKTGAQGERLKEATKINLSLSALGNVISALVDGKSTHIPYRDSKLTRLLQDSLGGNAKTVMVANVGPASYNVEETLTTLRYANRAKNIKNKPRVNEDPKDALLREFQEEIARLKAQLEKRSIGRRKRREKRREGGGSGGGGEEEEEEGEEGEEEGDDKDDYWREQQEKLEIEKRAIVEDHSLVAEEKMRLLKEKEKKMEDLRREKDAAEMLGAKIK|ifskgtsgacparspspvprprgtqattevhgmvrrngedgrgpdscppcpalcghssahwl* 11BR023 ENSG00000171862.11 ENSG00000184719.12 +/+ -/+ chr10:87894109 chr10:88370079 CDS/splice-site intron deletion/5'-5' 2 0 0 164 7 medium out-of-frame . . . . ENSG00000171862.11 ENSG00000184719.12 ENST00000371953.8 . downstream upstream . ^(GTTCTCTCCTCTCGGAAGCTGCAGCCATGATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCCTCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTCTTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCGCGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGGTCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGGCTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGGAGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTCGCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGCCAAGTCCAGAGCCATTTCCATCCTGCAGAAGAAGCCCCGCCACCAGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCTCCCAGACATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGA)TGGATTCGACTTAGACTTGACCT___ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAG|CTTCTTCTAGGAAAGCACTCTGAAGCCAAGTTGAAACATTATACTCcCAGG MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVs|ff* 11BR024 ENSG00000141367.12 ENSG00000154975.14 +/+ -/+ chr17:59620173 chr17:51823131 CDS/splice-site intron duplication/5'-5' 24 70 0 157 175 high out-of-frame . . . . ENSG00000141367.12 ENSG00000154975.14 ENST00000621829.4 . downstream upstream duplicates(4),mismatches(1) ^(AGACTGGCGAAAGTGATGAGTCTAAAAAAGTAGTCCCTCCGGTTCCTCTGTTTCCCCCCATGTGGCGTCAGGAAGCGAGGCACCGGGCGCACTGCGCCCCGAATTCCTGCGCCCGCCGCGCGCGGCGCTCCGTGGAGGGGTACATAAGGCGGAGGGGGTGAGGCGACTGGGCGGAGTTCTGTCGCCGGGATCCTTCCGCTGGGCTCAGCCGTTTCCGGAGTCTGCGCTGCGCCCGGTTCCGCCATTGCGGCTCTCCTGGCCCCTGGAGCCTCCGCCCCCGACCCGAGCTCTTTCGTCTGCCTGCCAGTTTCCTGCGTCCCCGGAGAGGATCCTGCTGAGCCCAGCCTCCCC)CCTCCCCTTCTCCTCCTCTCCCTTGGAGAGCCCGGGCAGCCACTGCCCCGCAGCCCCAGTGACAGGAGGAGACCATAACCCCCGACAGCGCCATGGCCCAGATTCTGCCAATTCGTTTTCAGGAGCATCTCCAG|ACATCGAAAGTCCAGATGAAGAAGAGGGATCTTTCCTTTCTTTACATGTTGCTGTGCTGAAAGCCAACAGCCAGGAAAGGAGTTAGCGAAATGCCCAGGCGGTCACATCAGAACCTCAGCAAAGGGCCACATGGCTGGGCCAGGACAGATCAGCAGACTCCAGGAAGCCACGGTGGGTGTATGCACTCAAGTCgCTGCAGTTCAGAGTAAGGAGCAGCCCTCCAGTTCCAGCCAAGGGCGACGGCTTTGCTGGTGTCCTCT?CTCGTGGTTGGACGCTGCTTTGGAAAGGAATCATG...___GATGTCAACACCCAGG MAQILPIRFQEHLQ|tskvqmkkrdlsflymllc* 11BR024 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 39 23 0 283 115 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(4),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGG)AAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTG...GCGTATATTAATTTGTCTTCAGGTAAAACTGGACTAAGAGGGGAAATGACTAAGAGGGGAAATGACATAGAGGTCTTGGAGTGAGGAGAGAGAAAAAAAAGGTCTTTGTAAAAAAATTTCCTGTTGATTTTTAATGACCTCCAAACCTAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR024 ENSG00000186566.13 ENSG00000175175.6 -/- +/+ chr17:44503326 chr17:58955649 CDS/splice-site CDS/splice-site inversion 5 37 0 41 67 high out-of-frame . G-patch_domain(100%)|Protein_phosphatase_2C(100%) . . ENSG00000186566.13 ENSG00000175175.6 ENST00000591680.6 ENST00000308249.4 upstream upstream . ^GGAGAGCGTCGTCCTGAGAGGAGTGAAGGCGGCAAAATGGCGGACCGCTTCTCCCGCTTCAACGAAGACCGAGACTTTCAG|TAATTGCCCTTCCTTTTTGGCTGCTGCTTTAGCCAGAGCCACATCAGATGAAGTCCTTCAGAGTGATCTTTCTGCACATTATATCCCAAAGGAAACGGATGGCACAGAAGGGACTGTGG___GACCAGGAAGAACAAGCTTACTTTGCAGTGTTTGATGGCCATGGGGGAGTAGATGCTGCTATTTATGCCTCCATTCACCTCCACGTTAACTTAGTCCGCCAGGAGATGTTCCCCCATGATCCTGCTGAGGCCCTGTGCAGGGCCTTCCGGGTCACTGATGAGCGGTTTGTGC(AGAAAGCAGCCAGGGAG___AGCTTAAGATGTGGGACCACAGGAGTGGTGACTTTCATCAGAGGCAACATGCTACATGTGGCCTGGGTGGGTGATTCCCAGGTTATGCTTGTGAGAAAGGGCCAAGCTGTTGAACTAATGAAGCCACACAAACCAGACAGAGAG___GATGAAAAGCAGAGAATTGAGGCCCTTGGAGGTTGCGTAGTCTGGTTTGGTGCCTGGAGGGTGAATGGAAGTCTGTCGGTTTCCAGAGCTATTG___GAGATGCTGAACATAAGCCATATATCTGTGGGGATGCAGATTCTGCCTCCACTGTTCTGGATGGGACCGAAGACTACCTCATTCTGGCCTGTGATGGCTTCTATGACACCGTGAACCCTGATGAGGCAGTGAAAGTTGTGTCCGACCACCTGAAAGAGAATAATGGAGACAGCAGCATGGTTGCCCACAAATTAGTGGCATCAGCTCGTGATGCTGGGTCAAGTGATAACATCACGGTTATTGTGGTATTCCTGAGGGACATGAACAAAGCTGTAAATGTTAGTGAGGAATCAGATTGGACAGAGAACTCTTTTCAAGGAGGGCAAGAAGATGGTGGGGATGATAAGGAGAATCATGGAGAGTGCAAACGCCCTTGGCCTCAGCACCAGTGCTCAGCACCAGCCGACCTAGGCTATGATGGGCGTGTGGATTCATTCACTGATAGAACTAGCCTGAGCCCAGGGTCCCAAATCAACGTGCTGGAAGACCCAGGCTACCTAGATCTCACACAAATAGAAGCAAGCAAACCTCACAGTGCCCAGTTTTTGCTACCAGTTGAGATGTTTGGTCCTGGTGCACCAAAGAAAGCAAATCTTATTAATGAGTTAATGATGGAGAAAAAATCAGTTCAGTCATCATTGCCTGAATGGAGTGGTGCTGGAGAGTTTCCCACTGCTTTCAATTTGGGTTCAACAGGGGAGCAGATATACAGAATGCAGAGCTTGTCTCCTGTCTGTTCAGGGTTGGAAAATGAACAGTTCAAATCCCCGGGAAACAGAGTTTCTAGATTGTCTCATTTACGCCACCACTACTCAAAGAAGTGGCACAGATTCAGGTTTAATCCAAAGTTTTATTCATTTCTCTCTGCTCAAGAGCCTTCCCACAAAATAGGCACTAGCCTGTCCTCACTTACTGGAAGTGGGAAGAGAAATAGGATAAGAAGTTCTCTGCCATGGAGGCAAAATAGTTGGAAAGGGTACAGTGAAAACATGAGGAAGCTCAGAAAGACTCATGATATTCCATGCCCAGATCTTCCTTGGAGCTATAAAATAGAATAATTTTTCTTTCAAGTAGGTTAGCTAGCTCTCCCCCAATAAAAATACCACTATCAGAGTAGAAACAAGGTAGACATTTCTAAAACATATGTGCTTCATTATGAATCCATGGATGGCTCAATTCTTAAATGTAAATAGATCTCTAGGAAACTCAAAGTACAGTGTTTTCAATCTAAAAAGAAGTATTGGCAGTTTCACTTGCAAAATTACACAGCTGGTCCCTGTGATGTGTCTCGACACCAATACACAACCCCCTTCCCACCATCCTTCATGTCACTAGATACACAACCCCCTTCCCACCATCCCTTCAGTCACTAGTGGAAGCTTTCAAGTTAGTTATTTCAGTCAGGATATACAGTGTTGAAATCTCAATGCAGTTGAAATCTGGTCTGATGTGCCTAATTTATCTGTGGAAAATTTAATGCTGAATTACATTTGGTTGGGAAATGTCCCTCAAAATCCTGGGCACTATGAAGGAACCCCCTGCCCCCTCACCTTTTTGGGTAGGTAAAAGACTAAAAGCCATATGGATTTTAACTGATAACAATGAAAGTGGTAAATCAGTGTAAAAGTGTCATATTCTCAGACTTGTGAGGCGGTTTATAGTCAGAAAGATTTACGGATTTTTTTCCTGTAACATAAAAGATTGTGAACTTTTTTTAATTAAAAAATATTTCCTAGGGCTGTAGTTATTTGGGAGTTTCATAACCTGTTATGGTGCTTTTGGTGGAAATTTTTATTATTTAGCATTTTAGGAGACCGCTGTCAACTGGTTTTAATCTATGATGCTAATGTGTTTTCCACTGTACCCTCATCTCAGGAATAAAACTGCTTTAACGGAGATGATGTCAGGTACAAATACACTATAGAGTCAAAATACCATTTACAAAGAAAATCAAAAGCATTTCTATATTTTGTCTTTTTTTAGTTCAGACAGCAAAGGCATGTACTACTATAAAATACAAAGTGATTTTAGAGAATGAAAAATGCTACTTTTATCTTCTCTAAAATTATTTCCCCCAAGGTAGTGAAGTAATTGGAATGAAGGAGGCTGAAAGTATTGTCTAAAGTGAGCCCAGAGGCCACTGAGAATGCAGATTACTGACAGCCAGGTCTGTTTAGTTGTAATTGGAAGACACATGAGTGTCCTGCTTACATGTAGCTTCAGACTGCAGAGACAGGACGTGTGCTTTTCATTTCAATATTTAGTTATATTTGATATTTTGAAACTGTCTGCTTTTTGCTATTTCTGCAGTTTCAAGTTAGTTAGAAGCATGTTGTCAACTAAAGACAACAAACTATCAGATTCATTCATTCAGTGAAGCAGCCTCTGATTCTCTAAGAGTCACGAATGTCTTAGTGTTACCCTCCCCTAGTCAACAGCAGACCAGCCTGGCCAATGCCTATGGGTGGCCCCTCTGGAGTGCTCACTAACAAGGGTGAGTGCTCTCGCTAAGAAGTGTCCCCCGCCTAATCATGTGTTTATAGGATAGTACACGTTCCCCAGGCCCATAACAGAGGACTAAAATCTCTGAATTTTAAAGACACAGATGACTGGCATATTTTGGATACCAGTATAGCTATATCAAATAGACAAAAACAGCTTCACTTTAGCAATGATCAGATTGTTAATCTACAGATTTTATTTTTTAAAATTTGGATGTAAGTAGAGACTTTCAGTATTTGTTTTCTCTTGATTTTGAAGTCATTTCTTCTTCTCACGTCTGTGACAAATGGTTGAAAAGGAGTCAACATGGCCCCAACTATAGTGCCGGAACCTTTTCATCATTCTGAGGCTTTGCCCCACACATGGTCCTCACTCATATCTGTCACCTTCTGAAGCCTAGATCTTGTTAACCCATCAGGTGCAGTGTCAGTTTCAAATCAAATTATCTAAGAAAACAAGAAAACAAAGGCAGCAGACTATTGGTACACATTATAGTCCAAAGTGCTTAGCGAAGTAAAAAAAAAAGCTTTTTAAAATTTCTATTGTTGTCTATTGGTAATGTTTTTGATCAGAATAAAGAGGGTAAAGGGAAAAAGTTACTACACATGCTAGGCTTTCTCAGTGGGGAAAAAAATGGCTGGATAGAACTGGGACAAACACAGACCCATCTTTAGGGGTCTGGATTTTGTAGGTCCGACTACACAGCAGTGTTAACTCATTTCTCATGCCATTAGCTCTCTACAAAATAAAGCAAAGTAGTTCTAGTGTGGTCGTTATAAACCAATATTGTGAAAAATAGCAACTATTCATTTGTTCACAACATGCGTATTTATAGAGTAGTTAGGTACCATTTGTAAGGTAAATCCTTTAAAATTCTATAATACATACTAAAATAGTGGTTATTGGTCTGATATATGCTGCTCTTGGTTCTATAAACTAGATAAAAGCAGTGCTTTGTGAAATGCAGTGTTCTCTCTTAACGCCACTGGTGATAGGAAGTAGTTCCCTTCAGTTCAAATCCTGTGCCCTTATTTGCTGCTTGCTGACGTAAGCAATAAGTAACCCTCTAACTAATGGTATCTACATATTTCTGTAACTTGTATTTAATGATGGTGTACCTGGTGATTGTAAAAATATTAGACAGATATAAAAGTATCTATATAATATCTATAAACTGTTAATGCTGAGGTATAGTCTGTGAATTATGTGTTTTGTATTTTTATTCATTGTGTAATTTAGTGGTGGTGAAAGTTCTACACTCAATCCTTAAAGAGTGGCAGTATCCCTTTTTCAATTTAACATGGTCTGCATCAATCTGTTTGCCTGCTAAACAAGTTAGAATAGGAAATAGTAAAATAAATCCAAACAAGAGTGTAATATTGGTTAGGGAAACAAACTTCAGGTCACCAACTGAAGTCATTACAAACTCCTTGTACATTCACTGTGAGTTTCAAAGGGAGTCAGTCCCTAATTTACAGGTTTCCTTTGTTCACTTTCTAGATGTGTACTTTTGAGGGACATGAGGTTAGGCAACATTACAGCAACACACACTGGGGCTATTAATCCCATTTAGGTCTGTACTAAAGAGGATGGGTAGAAACACATATGTATATACCTTTTCTTTACCTAGAAGTGCCATCCATTGTCCTTGAATTATTATGATTAAAGTTACTGTTGCATTTAGGAGGCTCCTTGAAAGTAACACCTTTTCCAAGGACAATGGCAACAATGTCAATGTCAACACTGAGTCTAATTTTGACCACATTTATAGTGGTATAGTGTCAATACTGCATTTTCATGACAACCACACTCCACTGTTGAAACACTGTGCCAGTGAGAAGTGCAACATCCAGTGGGCAGATGAAAATGATGCATGGCCAAGTTCAGTGTTTACAGATAAAACTGCTGTGGTTCAAGTGCTTCCTTCCCCATCAAATCCTTGATAAGGCTTTGTGGGAAAATGATCTAAATTATTGTTTTAATTTTTAAACCTAATTTATTCACTCAGTGAACATTCTTACCTAAGCAAGGCTATAAAAGGGAATACTACAGTTTTGTCCACACTTTAATTTGAGACCATTTTTCTTTGAATCGTAAGTTAGCAAAAGAAATTTTTTTCACCTTTGAAAATCACGTGATGTTAAAGGACAAATGCCCACTCTTCTATTCTGATCTGCAAATAGCTTAAATGTCTCTTGCAAAACAAAGTAAGATACCACCAGTATTACAACACAATGATTTTCCAGACAAATGGTATGGTGTTGAAAAATAACTGTTACTTCTTAAAGCAGCATTTTATCTTCTATTTTGAAGACTATTTATTGTAATAATTAGAAAACATGAAATAGGGAACTCCAGACTGACACAGCAGTTGTTTTTGAAAAGGAAATAAACTTTGATGAATTAGATAATCCAGATACATCATTGTAAACTCTTACTCTAGGTGCTCTTTGGTGAGAGACAGGCTTTGTTCTCTTGTTCATAACATTTCTCTGCAAAGAATTCTCTATGGAGTGAAGCGAATGAAGTGAATAATTTCTTACCAAATAAATTTATCAATTTACAAATCTGCTCTACATCTCACTTTTGAGTTCAGTTGTAGTCATGAGTGATCCTTCATATTTTATTAAAAGTGTTCATTCAGGTAAGGTGTATGTTGAAATTTTGCCAATTATCTTAATAAAACCTGGCAATTTAAAAACCA)$ MADRFSRFNEDRDFQ|* 11BR024 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 9 1 24 22 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(1),mismatches(1) GCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTG(CATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR024 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 10 8 0 23 23 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream mismappers(2) AAAAGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGC(CTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11BR024 ENSG00000062716.13 ENSG00000153944.11 +/+ +/+ chr17:59765138 chr17:57529676 CDS/splice-site CDS/splice-site duplication 14 3 0 162 89 high in-frame . |RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%) . . ENSG00000062716.13 ENSG00000153944.11 ENST00000262291.9 ENST00000284073.7 downstream upstream . ^(GGGTTCCGGTTGTCTGGAGCCCAGCGGCGGGTGTGAGAGTCCGTAAGGAGCAGCTTCCAGGATCCTGAGATCCGGAGCAGCCGGGGTCGGAGCGG___CTCCTCAAGAGTTACTGATCTATGAAATGGCAGAGAATGGAAAAAATTGTGACCAGAGACGTGTAGCAATGAACAAGGAACATCATAATGGAAATTTCACAG___ACCCCTCTTCAGTGAATGAAAAGAAGAGGAGGGAGCGGGAAGAAAGGCAGAATATTGTCCTGTGGAGACAGCCGCTCATTACCTTGCAGTATTTTTCTCTGGAAATCCTTGTAATCTTGAAGGAATGGACCTCAAA___ATTATGGCATCGTCAAAGCATTGTGGTGTCTTTTTTACTGCTGCTTGCTGTGCTTATAGCTACGTATTATGTTGAAGGAGTGCATCAACAG___TATGTGCAACGTATAGAG)AAACAGTTTCTTTTGTATGCCTACTGGATAGGCTTAGGAATTTTGTCTTCTGTTGGGCTTGGAACAGGGCTGCACACCTTTCTGCTTTATCTG___GGTCCACATATAGCCTCAGTTACATTAGCTGCTTATGAATGCAATTCAGTTAATTTTCCCGAACCACCCTATCCTGATCAGATTATTTGTCCAGATGAAGAGGGCACTGAAGGAACCATTTCTTTGTGGAGTATCATCTCAAAAGTTAGGATTGAAGCCTGCATGTGG|GTGGAAGATGCAATGCTGATGTTTGATAAAACTACCAACAGGCACAGAG MAENGKNCDQRRVAMNKEHHNGNFTDPSSVNEKKRREREERQNIVLWRQPLITLQYFSLEILVILKEWTSKLWHRQSIVVSFLLLLAVLIATYYVEGVHQQYVQRIEKQFLLYAYWIGLGILSSVGLGTGLHTFLLYLGPHIASVTLAAYECNSVNFPEPPYPDQIICPDEEGTEGTISLWSIISKVRIEACMW|VEDAMLMFDKTTNRHR 11BR024 ENSG00000104853.16 ENSG00000142046.15 +/+ +/- chr19:44977460 chr19:41364535 CDS/splice-site intron inversion/3'-3' 4 9 1 203 24 high out-of-frame . . . . ENSG00000104853.16 ENSG00000142046.15 ENST00000541297.6 . downstream downstream duplicates(1) ^(AAACTAAGGGTCTCTCAGCAGATGGCCGGGTTTAGAGCTGTACGAAGACACACAGCTAATGAAAAATTGTGGAATTCTCAGAGCCCGTGAAGCCTAGCCCACGGATGCGAGGTTTGGACCACTGAGGGAACGCGCATGCGTGCTAGGCAGGGCAGTCCGAAGGCTTGGGGGTGTATCATAGGGTCTCATCGGAGGTTTGTTGGCCGTAAGACCCCTGGAATTGGAACTCTAAAAACACAGAAAGGATATGAGCTCAGGAGACTTGAACGAAAGAGTTGTCTTAGGAAGAGGGGTCAGAAGACAAGGGTGCTGGGCAAAAGGCTAGTTCTTCGAATCAGAATACGGTGGCCAGAAAGGTTCCTCTGACGAAAGAGGGGCGTGGTTCGAAGCCGTACAGTGGCCGGTAAAGCTCAAGAAACATGGAACGAAAAGGACGCGAAGAATCGGCAGGGAGAAGCGGACAGGATGTCCCGAAAGGCTCATATAACCGAAAAG___GTGACCAGCAATGGCAGCATCGGGAGGGACCCGCCAGCGGAGACCCAGCCTCAGAACCCACCGGCCCAGCCGGCACCCAATGCCTGGCAGGTCATCAAAGGTGTGCTGTTTAG___GATCTTCATCATCTGGGCCATCAGCAGTTGGTTCCGCCGAGGGCCGGCCCCTCAGGACCAGGCGGGCCCCGGAGGAGCTCCACGCGTCGCCAGCCGCAACCTGTTCCCCAAAGACACTTTAATG___AACCTGCATGTGTACATCTCAGAGCACGAGCACTTTACAGACTTCAACGCCACGTCGGCACTCTTCTGGGAACAGCACGAT)CTTGTGTATGGCGACTGGACTAGCGGCGAGAACTCAGACGGCTGCTACGAGCACTTTGCTGAGCTCGATATCCCACAG___AGCGTCCAGCAGAACGGCTCCATCTACATCCACGTTTACTTCACCAAGAGTGGCTTCCACCCAGACCCCCGGCAGAAGGCCCTGTACCGCCGGCTTGCCACAGTCCACATGTCCCGGA|TTACAAGGCCGGGGATGTACACGAGGTCCTGGAAGGAATTCCCCCTTGGTCCTGGTTCAATCTCTGATTTGTGATCCCGGACCACAGAGAGCTCTTCGGTGGGGTAGGCGCAGCACGGAGCAGTTAGGGATTTGCTTTTTTGGTAAAGAAGGTATCTGGGAGAAACTGCACTCAAACTTCCTCAGCCACACTCAACATGGCAGCTTCCTAGCCACGC MSRKAHITEKVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVLFRIFIIWAISSWFRRGPAPQDQAGPGGAPRVASRNLFPKDTLMNLHVYISEHEHFTDFNATSALFWEQHDLVYGDWTSGENSDGCYEHFAELDIPQSVQQNGSIYIHVYFTKSGFHPDPRQKALYRRLATVHMSR|itrpgmytrswkefplgpgsisdl* 11BR024 ENSG00000226599.1 ENSG00000120278.16 -/+ +/+ chr6:150650786 chr6:150733584 exon 5'UTR/splice-site deletion/read-through/3'-3' 3 8 0 13 28 high . . |RhoGEF_domain(100%) . . ENSG00000226599.1 ENSG00000120278.16 . ENST00000644968.1 downstream upstream . GCACCCTCCCCGCCCGACCTGCGAGCGCCGCCCGGGCATGCGAAGCCGTCCCTCCCCGG___GTGAAGACTGATGAGAAGAGTCTGTGGGTGAAGACATTGAAAAGGTTTCAACTATAAAA|ATGGGCACCAGTTGCGTCTTGAAGTGCCATCAGCTGTAACCAAAGTTCCACATCCCAAGACGACAGCCAGGCGTTCCTGCCCTCAAGAACTGAAGACAATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCAcGGTTCCTTCGGCAGCAGAATGACCTTAGTTTCAAATAGCC(ACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGACAACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCGGCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAG___GATTACCTTGACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAG___TGAACTTCTGCAAGATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAG___AGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAG___GTCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTCTTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCAT___GAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATAGACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAG___GAGATACAGAGTTTGCTCACTAACTGGAAGGGGCCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATCACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTG___TGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTCCACTACAAGAATCCCAAGCTGCAGCACACAGTCCAG___GCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAG___GCCAAGCAAGCAATCCTTGAAATGGATGCCATTC___ATCATCCAGGCTTCTGTTACAGTCCTGAGGGAGGGACGAAAGCACTGTTCGGCTCTAAAGAAGGTTCTGCTCCATATCGGCTGAGAAGAAAATCTG___AACCTTCCTCACGGTCACATAAAGTTTTGAAGACCAGTG___AAACAGCACAAGACATCCAAAAG___GTTTCTAGAGAGGAAGGATCTCCCCAGCTGTCTTCAGCAAGGCCGTCTCCTGCCCAGAGAAATAGTCAGCCTAGCAGTTCTACCATGATCAGCGTGCTTCGAGCGGGTGGAGCTCTCAGAAACATCTGGACCGATCACCAGATCAGGCAAGCCTTGTTTCCCAGCCGACGGTCCCCGCAGGAGAATGAGGATGATGAAGATGATTATCAGATGTTCGTGCCGTCATTTTCCTCCTCAGATCTGAACTCTACCAGACTATGTGAAGATAGCACTTCTAGTCGCCCTTGCAGCTGGCATATGGGACAGATGGAGTCCACAGAGACCTCCAGCTCTGGTCACAGGATTGTCAGGCGGGCCAGCAGTGCTGGGGAGAGCAACACATGCCCTCCTGAAATAGGAACTAGTGACAGAACTAGGGAACTGCAGAACAGCCCCAAAACAGAAGGGCAGGAGGAGATGACTCCCTTTGGGTCATCCATAGAGTTGACTATTGATGACATAGACCATGTCTATGATAACATCAGTTATGAGGACTTAAAACTAATGGTTGCTAAGCGGGAAGAAGCTGAATCCACTCCCTCTAAATCAGCCAGGGACTCCGTTCGCCCCAAGAGCACCCCAGAGTTAGCCTTCACAAAGAGGCAAGCTGGCCACAGTAAGGGCTCTCTTTACGCACAAACAGATGGCACCCTCTCAGGTGGAGAGGCATCCAGCCAAAGCACGCATGAACTCCAAGCGGTTGAGGAGAACATCTATGACACCATAGGGCTCCCAGATCCTCCGTCGCTGGGTTTTAAGTGCAGCAGCCTAAAGCGTGCAAAGCGGAGCACCTTTTTGGGTCTGGAGGCCGACTTCGTGTGCTGTGACAGCCTGAGGCCATTTGTTTCCCAAGACAGCCTCCAGCTCAGTGAGGACGAAGCCCCTTACCATCAGGCCACTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGTGGTAACTTGTCTATGCCTCATAAGCCTGTATCTGATAAACTGTCCGAAGAAGTAGATGAAATCTGGAATGACCTGGAAAATTACATCAAGAAAAATGAAGACAAGGCCAGAGACCGTCTCCTGGCAGCGTTTCCTGTGAGCAAGGATGATGTGCCAGACAGGCTGCACGCAGAGAGCACCCCTGAGCTGAGCCGGGACGTGGGGCGCTCTGTGTCCACGCTGTCCCTGCCTGAGAGCCAGGCTCTCCTCACGCCCGTGAAGAGCAGGGCTGGCAGAGCCAGCCGCGCCAACTGCCCCTTTGAGGAAGACCTGATTTCTAAAGAAGGCTCCTTTATGAGCCTTAACCGGCTTTCTCTGGCTAGTGAAATGCCCCTCATGGACAATCCCTACGACCTGGCCAACAGTGGCCTGTCTCAAACAGACCCAGAAAACCCTGACCTGGGGATGGAGGCCACAGATAAGACAAAAAGCAGGGTGTTTATGATGGCTCGGCAGTACAGTCAGAAGATTAAGAAGGCGAATCAACTTTTAAAAGTGAAAAGTCTGGAGCTGGAGCAGCCGCCGGCCAGTCAGCATCAGAAATCCATGCACAAAGACCTGGCTGCCATCTTGGAAGAGAAGAAGCAAGGAGGGCCCGCCATTG___GTGCCAGGATTGCTGAGTATTCCCAGTTGTATGACCAGATTGTATTCAGAGAGTCTCCCTTGAAAATTCAGAAGGATGGCTGGGCCAGCCCTCAAGAATCCTCCCTCCTGAGGTCTGTGTCACCTTCCCAGGTCCACCATGGTAGTGGAGACTGGCTTCTGCATTCAACCTATAGTAATGGAGAGTTAGCAGATTTCTGTCTCCCACCAGAGCAAGACTTGAGGTCAAGATATCCCACGTTTGAGATCAATACAAAAAGTACTCCCAGGCAATTGTCCGCAGCTTGCTCTGTGCCTTCTCTTCAAACCTCTGACCCTCTGCCAGGCTCTGTGCAGAGATGCAGCGTGGTAGTAAGTCAGCCCAACAAAGAGAACTGGTGTCAGGACCATCTTTACAACTCCTTGGGTCGGAAAGGGATCAGCGCTAAATCTCAGCCTTATCACAGGTCCCAGTCATCTTCCTCCGTCTTGATCAACAAATCAATGGATTCCATCAACTACCCTAGTGATGTGGGAAAGCAGCAGCTGCTGTCTTTACACAGAAGTTCAAGGTGTGAGAGTCACCAGGACTTGCTGCCAGATATTGCTGACTCGCATCAACAGGGCACTGAAAAACTCTCAGATCTCACACTCCAAGACTCACAGAAAGTTGTGGTGGTCAATAGAAATTTACCCTTAAATGCCCAAATTGCAACACAGAATTATTTTTCCAATTTCAAAGAGACTGATGGAGATGAAGATGACTATGTGGAAATCAAGTCAGAAGAAGATGAGTCGGAGTTGGAGCTATCTCACAATCGTAGAAGGAAATCTGACTCAAAGTTTGTGGATGCTGACTTTTCTGATAATGTCTGCAGCGGCAACACATTGCATTCTTTGAATAGTCCGCGCACTCCAAAAAAGCCGGTTAACAGCAAACTTGGCCTTTCACCATATCTGACACCATATAATGATTCTGACAAACTGAATGACTATCTTTGGAGGGGGCCATCTCCCAATCAACAAAATATTGTCCAGTCTCTAAGGGAAAAATTTCAGTGTCTCAGTTCAAGCAGCTTTGCTTAAGGTTCTTCATAATAACTGCTTGAATCAACTTCTTATTTTGCTCATAAAACGTTACAGATACTGATGAGGTGTTTTATGTATACCAGATTAAAACAATTTTGTAAGAACCAGAGGTGTAAAATATACTTTCTTTTACAGCACAACTTTTGGAAATGGCTGACGATGCAGCCCGGATTGTACTGTAGCACATGTTGGCATCAACAGTATATTTTCTCATGCTGAGTGTCTTCATGTTTCATGTAAGTCAATCTTACTTGAAAGTTTTTAGACTTTTAACACGATGGCCATAACCTGACAATAGTGCCCACACCTTAAGAAATGCAATAATCCTTTCCTGTTATCCAGAAGGCCCAGGTAGTTTTATCCTGTGACTCAAAGGCAGCAAGGAGACTTTTTCACATTTTAAAAGGCAACGAAAGCTGTTGAAAGAATTATGCTTATATCTCACATTTTGGTTATATTTGTGGTAACACCTTAGGATAACGTAAGCCAGAGATCTGTAAATTGGACTGCAGTCTGAGGTGCCCATTTTAGGGTTTTTGTGCTAGTATTCTTTTATGTCATTTTGATGCAGAAATTGTGTGACTGTTGAAAATTAAAATGTAGCGGGACCCATTTTCTGTACGCAGAACCCTTTACCTGTATTCCTGGACAAGGCCTAGAGAACGAGCTGCTCATCATGTTTCTAATATAATTTCTGGGGTGAAATGAATGATTTCCTTACTGGCTTAGAGAAAACCAAGGTCAATAAAATGCAGATTGACTTAACTATTAGAAAAGATGGGATGACTTCTGGGAACCACTTAACTCTTCAAATGACTGTTGAAAGAGAAAAAGCAAAACTGAAATCCCACCAGACCATTTTGTGTGCCTGTTTCTAATCGATACAAAGTTAAGCATGAGCTAAAATCAGACAAAGCACTTTAAATTTATCCTTTCCAGAGCGCTTTGCACATGCACCCTCCTGAGTTTGGGATTCTGCCAAATGACCAACTTGATCCTGGCCCTGAGGAGTCATTGGCTGCAGGAATAGGGCAAGAATCTATTTCCTAAACTACACATAACATGGGAGCCTTTTTTTCGTTGTTTTCAGGTATATTAAAGAATGAAATCTTTGGTTACTAGGTGCTGACTAATAAATAACACCTTTTATATTCTGACCATTTGTCACATTTCATTGTGATACTGTATACTGATCTAACTCCTTATGAAAGGCAACAAACAAAAATAAGACATTGAATAAAAAGCAAAATCAAAGAAGCTAAAGAGAAAAATGAAGGCAGATATATTGCAACTTTATAACATATTCTATTTTATTGAAGACTGCAATTAATGCAGCAAGAATGCTTTCTCAAGCGGTGGCCTTTGTATTCTCATTTTAATCAGGTGTACATTCTATGGCCTCTCCCCCATGCTGTTAGTTTCTATTTTAAAAGATACAATAATATATGTAGGGAAAGGGGCCTGGGCTCTTCATTTAAAGGTAAGCAGTAATATTGAGTAAGTGACATAATTCTTTTTCTCTTTGTTAAGTCCTATGCCTCTTTTTCTTAACTGTAAAACATAGAATATGAGCGTTTTTATCTTACAAATAGGTACCTAAGGCATGTGATTTTATTTTTAAATAACAAAAAATAACCCAAGTTTCTTGCTTCTCCAAAGTATTCTTCTCATAGCTTATAAAAGAAAGTCCACATTGAATAGCATGGTCTGGGAACATTCCTTCTTTATTGTGTTTATTTGAACATGATATGAGTTTCCAAGATGAAATGATCAAAAAAGATAAGTACCACAAGAAAGTTTTTTTGTTTGGTTGGTTTTTTTGTTTGTTTGTTTTTTTCTTGAGACTGAGTCTCTCCCTGTTGCCCAAGTTGGAGTGCAATCTTGGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCTGCCTCAGCCTCTTGAATAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTGTTGTTAGTAGAGGCGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCATGATCCGTCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAAGAAAGTATGTTTTTAGAGGTGTGTGTAAGTGCATTTGTATTACCTATGAACAAAATTACCTGACTCTTGTCCCAGGAAAGCTGTTTCGCATTTTCGCTTTTTGATTGGTATTATCCAGTTCTATGTAGTTCATATTATTGTTCTGTCTGACTCTCAGAAATTACTTCTTCACGCCAGTGTCTTGTTGCATGACTTTGATGTCACCTATAGGAATACACCTCACTGCACGTAAGTGGGTATCTTACTGTATAAAAGGTCTACATGGCTTTAGGTTTTAGGACAAATGTGTAGATTTATAGACCATTTCTGTTGGCCAGGACACAGATTTTGAGAGCTG)$ . 11BR024 ENSG00000186566.13 ENSG00000238447.1(14776),ENSG00000166329.3(44127) -/- ./+ chr17:44503326 chr17:57700368 CDS/splice-site intergenic inversion 1 3 0 41 5 high out-of-frame . G-patch_domain(100%)| . . ENSG00000186566.13 . ENST00000591680.6 . upstream upstream . ^GGAGAGCGTCGTCCTGAGAGGAGTGAAGGCGGCAAAATGGCGGACCGCTTCTCCCGCTTCAACGAAGACCGAGACTTTCAG|GTGCTTTGAAGTCTCGCACTAATCAGAGTCATGGTCATGAATATCAGAACTTGATATTGAAGAAGCATAAAAGTGCTCATCAAAGAATTAGGTGACGGAAATGGCAGGAAACAGCATAAGTGGATGCTTCTGTGAGAGTGCAGG MADRFSRFNEDRDFQ|vl* 11BR024 ENSG00000238447.1(14918),ENSG00000166329.3(43985) ENSG00000175175.6 ./+ +/+ chr17:57700510 chr17:58955649 intergenic CDS/splice-site deletion 1 3 0 4 67 high . . |Protein_phosphatase_2C(100%) . . . ENSG00000175175.6 . ENST00000308249.4 downstream upstream . ATTGAAGAAGCATAAAAGTGCTCATCAAAGAATTAGGTGACGGAAATGGCAGGAAACAGCATAAGTGGATGCTTCTGTGAGAGTGCAG|TAATTGCCCTTCCTTTTTGGCTGCTGCTTTAGCCAGAGCCACATCAGATGAAGTCCTTCAGAGTGATCTTTCTGCACATTATATCCCAAAGGAAACGGATGGCACAGAAGGGACTGTGG___GACCAGGAAGAACAAGCTTACTTTGCAGTGTTTGATGGCCATGGG(GGAGTAGATGCTGCTATTTATGCCTCCATTCACCTCCACGTTAACTTAGTCCGCCAGGAGATGTTCCCCCATGATCCTGCTGAGGCCCTGTGCAGGGCCTTCCGGGTCACTGATGAGCGGTTTGTGCAGAAAGCAGCCAGGGAG___AGCTTAAGATGTGGGACCACAGGAGTGGTGACTTTCATCAGAGGCAACATGCTACATGTGGCCTGGGTGGGTGATTCCCAGGTTATGCTTGTGAGAAAGGGCCAAGCTGTTGAACTAATGAAGCCACACAAACCAGACAGAGAG___GATGAAAAGCAGAGAATTGAGGCCCTTGGAGGTTGCGTAGTCTGGTTTGGTGCCTGGAGGGTGAATGGAAGTCTGTCGGTTTCCAGAGCTATTG___GAGATGCTGAACATAAGCCATATATCTGTGGGGATGCAGATTCTGCCTCCACTGTTCTGGATGGGACCGAAGACTACCTCATTCTGGCCTGTGATGGCTTCTATGACACCGTGAACCCTGATGAGGCAGTGAAAGTTGTGTCCGACCACCTGAAAGAGAATAATGGAGACAGCAGCATGGTTGCCCACAAATTAGTGGCATCAGCTCGTGATGCTGGGTCAAGTGATAACATCACGGTTATTGTGGTATTCCTGAGGGACATGAACAAAGCTGTAAATGTTAGTGAGGAATCAGATTGGACAGAGAACTCTTTTCAAGGAGGGCAAGAAGATGGTGGGGATGATAAGGAGAATCATGGAGAGTGCAAACGCCCTTGGCCTCAGCACCAGTGCTCAGCACCAGCCGACCTAGGCTATGATGGGCGTGTGGATTCATTCACTGATAGAACTAGCCTGAGCCCAGGGTCCCAAATCAACGTGCTGGAAGACCCAGGCTACCTAGATCTCACACAAATAGAAGCAAGCAAACCTCACAGTGCCCAGTTTTTGCTACCAGTTGAGATGTTTGGTCCTGGTGCACCAAAGAAAGCAAATCTTATTAATGAGTTAATGATGGAGAAAAAATCAGTTCAGTCATCATTGCCTGAATGGAGTGGTGCTGGAGAGTTTCCCACTGCTTTCAATTTGGGTTCAACAGGGGAGCAGATATACAGAATGCAGAGCTTGTCTCCTGTCTGTTCAGGGTTGGAAAATGAACAGTTCAAATCCCCGGGAAACAGAGTTTCTAGATTGTCTCATTTACGCCACCACTACTCAAAGAAGTGGCACAGATTCAGGTTTAATCCAAAGTTTTATTCATTTCTCTCTGCTCAAGAGCCTTCCCACAAAATAGGCACTAGCCTGTCCTCACTTACTGGAAGTGGGAAGAGAAATAGGATAAGAAGTTCTCTGCCATGGAGGCAAAATAGTTGGAAAGGGTACAGTGAAAACATGAGGAAGCTCAGAAAGACTCATGATATTCCATGCCCAGATCTTCCTTGGAGCTATAAAATAGAATAATTTTTCTTTCAAGTAGGTTAGCTAGCTCTCCCCCAATAAAAATACCACTATCAGAGTAGAAACAAGGTAGACATTTCTAAAACATATGTGCTTCATTATGAATCCATGGATGGCTCAATTCTTAAATGTAAATAGATCTCTAGGAAACTCAAAGTACAGTGTTTTCAATCTAAAAAGAAGTATTGGCAGTTTCACTTGCAAAATTACACAGCTGGTCCCTGTGATGTGTCTCGACACCAATACACAACCCCCTTCCCACCATCCTTCATGTCACTAGATACACAACCCCCTTCCCACCATCCCTTCAGTCACTAGTGGAAGCTTTCAAGTTAGTTATTTCAGTCAGGATATACAGTGTTGAAATCTCAATGCAGTTGAAATCTGGTCTGATGTGCCTAATTTATCTGTGGAAAATTTAATGCTGAATTACATTTGGTTGGGAAATGTCCCTCAAAATCCTGGGCACTATGAAGGAACCCCCTGCCCCCTCACCTTTTTGGGTAGGTAAAAGACTAAAAGCCATATGGATTTTAACTGATAACAATGAAAGTGGTAAATCAGTGTAAAAGTGTCATATTCTCAGACTTGTGAGGCGGTTTATAGTCAGAAAGATTTACGGATTTTTTTCCTGTAACATAAAAGATTGTGAACTTTTTTTAATTAAAAAATATTTCCTAGGGCTGTAGTTATTTGGGAGTTTCATAACCTGTTATGGTGCTTTTGGTGGAAATTTTTATTATTTAGCATTTTAGGAGACCGCTGTCAACTGGTTTTAATCTATGATGCTAATGTGTTTTCCACTGTACCCTCATCTCAGGAATAAAACTGCTTTAACGGAGATGATGTCAGGTACAAATACACTATAGAGTCAAAATACCATTTACAAAGAAAATCAAAAGCATTTCTATATTTTGTCTTTTTTTAGTTCAGACAGCAAAGGCATGTACTACTATAAAATACAAAGTGATTTTAGAGAATGAAAAATGCTACTTTTATCTTCTCTAAAATTATTTCCCCCAAGGTAGTGAAGTAATTGGAATGAAGGAGGCTGAAAGTATTGTCTAAAGTGAGCCCAGAGGCCACTGAGAATGCAGATTACTGACAGCCAGGTCTGTTTAGTTGTAATTGGAAGACACATGAGTGTCCTGCTTACATGTAGCTTCAGACTGCAGAGACAGGACGTGTGCTTTTCATTTCAATATTTAGTTATATTTGATATTTTGAAACTGTCTGCTTTTTGCTATTTCTGCAGTTTCAAGTTAGTTAGAAGCATGTTGTCAACTAAAGACAACAAACTATCAGATTCATTCATTCAGTGAAGCAGCCTCTGATTCTCTAAGAGTCACGAATGTCTTAGTGTTACCCTCCCCTAGTCAACAGCAGACCAGCCTGGCCAATGCCTATGGGTGGCCCCTCTGGAGTGCTCACTAACAAGGGTGAGTGCTCTCGCTAAGAAGTGTCCCCCGCCTAATCATGTGTTTATAGGATAGTACACGTTCCCCAGGCCCATAACAGAGGACTAAAATCTCTGAATTTTAAAGACACAGATGACTGGCATATTTTGGATACCAGTATAGCTATATCAAATAGACAAAAACAGCTTCACTTTAGCAATGATCAGATTGTTAATCTACAGATTTTATTTTTTAAAATTTGGATGTAAGTAGAGACTTTCAGTATTTGTTTTCTCTTGATTTTGAAGTCATTTCTTCTTCTCACGTCTGTGACAAATGGTTGAAAAGGAGTCAACATGGCCCCAACTATAGTGCCGGAACCTTTTCATCATTCTGAGGCTTTGCCCCACACATGGTCCTCACTCATATCTGTCACCTTCTGAAGCCTAGATCTTGTTAACCCATCAGGTGCAGTGTCAGTTTCAAATCAAATTATCTAAGAAAACAAGAAAACAAAGGCAGCAGACTATTGGTACACATTATAGTCCAAAGTGCTTAGCGAAGTAAAAAAAAAAGCTTTTTAAAATTTCTATTGTTGTCTATTGGTAATGTTTTTGATCAGAATAAAGAGGGTAAAGGGAAAAAGTTACTACACATGCTAGGCTTTCTCAGTGGGGAAAAAAATGGCTGGATAGAACTGGGACAAACACAGACCCATCTTTAGGGGTCTGGATTTTGTAGGTCCGACTACACAGCAGTGTTAACTCATTTCTCATGCCATTAGCTCTCTACAAAATAAAGCAAAGTAGTTCTAGTGTGGTCGTTATAAACCAATATTGTGAAAAATAGCAACTATTCATTTGTTCACAACATGCGTATTTATAGAGTAGTTAGGTACCATTTGTAAGGTAAATCCTTTAAAATTCTATAATACATACTAAAATAGTGGTTATTGGTCTGATATATGCTGCTCTTGGTTCTATAAACTAGATAAAAGCAGTGCTTTGTGAAATGCAGTGTTCTCTCTTAACGCCACTGGTGATAGGAAGTAGTTCCCTTCAGTTCAAATCCTGTGCCCTTATTTGCTGCTTGCTGACGTAAGCAATAAGTAACCCTCTAACTAATGGTATCTACATATTTCTGTAACTTGTATTTAATGATGGTGTACCTGGTGATTGTAAAAATATTAGACAGATATAAAAGTATCTATATAATATCTATAAACTGTTAATGCTGAGGTATAGTCTGTGAATTATGTGTTTTGTATTTTTATTCATTGTGTAATTTAGTGGTGGTGAAAGTTCTACACTCAATCCTTAAAGAGTGGCAGTATCCCTTTTTCAATTTAACATGGTCTGCATCAATCTGTTTGCCTGCTAAACAAGTTAGAATAGGAAATAGTAAAATAAATCCAAACAAGAGTGTAATATTGGTTAGGGAAACAAACTTCAGGTCACCAACTGAAGTCATTACAAACTCCTTGTACATTCACTGTGAGTTTCAAAGGGAGTCAGTCCCTAATTTACAGGTTTCCTTTGTTCACTTTCTAGATGTGTACTTTTGAGGGACATGAGGTTAGGCAACATTACAGCAACACACACTGGGGCTATTAATCCCATTTAGGTCTGTACTAAAGAGGATGGGTAGAAACACATATGTATATACCTTTTCTTTACCTAGAAGTGCCATCCATTGTCCTTGAATTATTATGATTAAAGTTACTGTTGCATTTAGGAGGCTCCTTGAAAGTAACACCTTTTCCAAGGACAATGGCAACAATGTCAATGTCAACACTGAGTCTAATTTTGACCACATTTATAGTGGTATAGTGTCAATACTGCATTTTCATGACAACCACACTCCACTGTTGAAACACTGTGCCAGTGAGAAGTGCAACATCCAGTGGGCAGATGAAAATGATGCATGGCCAAGTTCAGTGTTTACAGATAAAACTGCTGTGGTTCAAGTGCTTCCTTCCCCATCAAATCCTTGATAAGGCTTTGTGGGAAAATGATCTAAATTATTGTTTTAATTTTTAAACCTAATTTATTCACTCAGTGAACATTCTTACCTAAGCAAGGCTATAAAAGGGAATACTACAGTTTTGTCCACACTTTAATTTGAGACCATTTTTCTTTGAATCGTAAGTTAGCAAAAGAAATTTTTTTCACCTTTGAAAATCACGTGATGTTAAAGGACAAATGCCCACTCTTCTATTCTGATCTGCAAATAGCTTAAATGTCTCTTGCAAAACAAAGTAAGATACCACCAGTATTACAACACAATGATTTTCCAGACAAATGGTATGGTGTTGAAAAATAACTGTTACTTCTTAAAGCAGCATTTTATCTTCTATTTTGAAGACTATTTATTGTAATAATTAGAAAACATGAAATAGGGAACTCCAGACTGACACAGCAGTTGTTTTTGAAAAGGAAATAAACTTTGATGAATTAGATAATCCAGATACATCATTGTAAACTCTTACTCTAGGTGCTCTTTGGTGAGAGACAGGCTTTGTTCTCTTGTTCATAACATTTCTCTGCAAAGAATTCTCTATGGAGTGAAGCGAATGAAGTGAATAATTTCTTACCAAATAAATTTATCAATTTACAAATCTGCTCTACATCTCACTTTTGAGTTCAGTTGTAGTCATGAGTGATCCTTCATATTTTATTAAAAGTGTTCATTCAGGTAAGGTGTATGTTGAAATTTTGCCAATTATCTTAATAAAACCTGGCAATTTAAAAACCA)$ . 11BR024 ENSG00000123810.8 ENSG00000269786.1(100064),ENSG00000268483.1(43057) -/- ./- chr19:41354553 chr19:57022277 3'UTR intergenic duplication 8 8 1 41 18 medium stop-codon . Ciliary_basal_body-associated__B9_protein(100%)| . . ENSG00000123810.8 . ENST00000243578.8 . upstream downstream . ^(AGCAACAACCACGGAAACCAAGACGAGCGCGGTCGCGGAAGTATCGCGGCTTACATATCTCGCAGCCAGGCGGGTCCTGGGAGAGGCGCGAGCCAGGCCTGGTCGGCGCCCGCGGAGAAAAGAAGCAGTCAAGCCCATGAACTACAACCCCGGTTGCCGCTTTCTCCTCTCCTAACCGTTAAGTGCGCTAAG___GGCCATGGCTGAGGTGCACGTGATCGGGCAGATCATAGGGGCCAGCGGTTTCTCGGAAAGTAGCCTCTTCTGCAAGTGGGGCATTCACACAG___GGGCGGCATGGAAGCTCCTGTCAGGCGTGCGGGAGGGCCAAACGCAAGTGGACACCCCGCAGATAGGGGACATGGCTTACTGGTCCCACCCCATCGACCTGCACTTCGCCACCAAAGGTCTTCAAG___GCTGGCCCCGGCTCCATTTCCAGGTGTGGTCCCAGGACAGCTTTGGCCGCTGCCAGCTTGCAGGCTATGGATTTTGCCATGTGCCCAGTAGCCCGGGCACCCACCAGCTGGCCTGCCCCACGTGGCGGCCCCTGGGCAGTTGGCGAGAACAGTTGGCACGGGCTTTCGTGGGTGGTGGGCCGCAGCTGCTGCATGGGGACACCATCTACAGTGGGGCCGACCGCTATCGCCTGCACACAGCTGCTGGTGGCACCGTGCA)CCTGGAGATCGGCCTGCTGCTCCGCAACTTCGACCGCTACGGCGTGGAGTGCTGAGGGACTCTGCCTCCAACGTCACCACCATCCACACCCCGGACACCCAGTGATGGGGGAGGATGGCACAGTGGTCAAGAGCACAGACTCTAGAGACTGTCAGAGCTGACCCCAGCTAAGGCATGGCACCGCTTCTGTCCTTTCTAGGAC|AGCTGGCTCTTATGTGAGCACATTTCACGTTTCCTTGCCACGATACAAACCTGTTTTCAGATATGCTTGTTGAAGGCAATTCCAAACTACAGCATGACGTTTGGAGCTGGGTGGATGATTCTTTGTTGTGTGTGTGGTGGGGACTGTCCTCTGCACTGAAGGCCATCCCTGGCCTCCACCCATTAGATGCCCAGAACTCATTCCTTTCCCCAGTAGTGACAATCAAAACTGTGTCCAGAC . 11BR024 ENSG00000082458.12 ENSG00000090889.12 +/+ +/- chrX:70503065 chrX:70304805 3'UTR intron inversion/3'-3' 10 4 0 84 7 medium stop-codon . Guanylate_kinase(100%),PDZ-associated_domain_of_NMDA_receptors(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Polyubiquitination_(PEST)_N-terminal_domain_of_MAGUK(100%),SH3_domain(100%)| . . ENSG00000082458.12 ENSG00000090889.12 ENST00000374360.8 . downstream downstream mismappers(1) ^(ACTCCACTCAGATCCATCCTGGGGACCAGAGCAGAAGCGGTCCTCACAGCACCCATTCTCTGCTTGAGCTCCCGCTTCTTCTTTGCCGCTGGGCCTCGGCCCAGAAGCCACGACGGGCGACACGGAGCCGCCAGTGCTGGAGGGGGAGCCGTGGGTGCGGGGCAGCGTGGGGGCCGAGGCCCCGGGACGCCCGCCCGGCCCCAGGCCCCGCTCAGCCCGGGCGCCCCCACGGGTGCCCCCCCCTTCTTGGTCCGAGCAGTGTGAGTGTGCCAGGGAGCCCGGCGGCGGCGGCGGCGGTGGTGGCGGCGGTGGCGGCGGCGTGGAATCCGGCGTGGGCTGGGGGGTCCGAGCCGCGGGGGGCAGTGCCATGCACAAGCACCAGCACTGCTGTAAGTGCCCTGAGTGCTATGAGGTGACCCGCCTGGCCGCCCTGCGGCGCCTCGAGCCTCCGGGCTACGGCGACTGGCAAGTCCCCGACCCTTACGGGCCAGGTGGGGGCAACGGCGCCAGCGCGGGTTATGGGGGCTACAGCTCGCAGACCTTGCCCTCGCAGGCGGGGGCCACCCCCACCCCTCGCACCAAGGCCAAGCTCATCCCCACCGGCCGGGATGTGGGGCCGGTGCCTCCTAAGCCAGTCCCGGGCAAGAGCACCCCCAAACTCAACGGCAGCGGCCCCAGCTGGTGGCCAGAGTGCACCTGTACCAACCGGGACTGGTATGAGCAG___GTGAATGGCAGTGATGGCATGTTCAAATATGAGGAAATCGTACTTGAGAGG___GGCAACTCTGGCCTGGGCTTCAGTATCGCAGGTGGCATCGACAATCCCCATGTCCCTGATGACCCTGGCATCTTTATTACCAAGATTATCCCTGGTGGAGCAGCTGCCATGGATGGGAGGCTGGG___GGTGAATGACTGTGTGCTGCGGGTGAATGAGGTGGACGTGTCGGAGGTGGTACACAGCCGGGCGGTGGAGGCGCTGAAGGAGGCAGGCCCTGTGGTGCGATTGGTGGTGCGGAGGCGACAGCCTCCACCCGAGACCATCATGGAGGTCAACCTGCTCAAAGGGCCCAAAG___GCCTGGGTTTCAGCATTGCTGGGGGTATTGGCAACCAGCACATCCCAGGAGACAACAGCATCTACATCACCAAGATCATTGAGGGGGGTGCTGCTCAGAAGGATGGACGCCTACAGATTGGGGACCGGCTGCTGGCG___GTGAACAACACCAATCTGCAGGATGTGAGGCACGAGGAAGCTGTGGCCTCACTGAAGAACACATCTGATATGGTGTATTTGAAGGTGGCCAAGCCAGGCAGCCTCCACCTCAACGACATGTACGCTCCCCCTGACTACGCCAGCA___CTTTTACTGCCTTGGCTGACAACCACATAAGCCATAATTCCAGCCTGGGTTATCTCGGGGCTGTGGAGAGCAAGGTCAGCTACCCTGCTCCTCCTCAGGTTCCCCCCACCCGCTACTCTCCTATTCCCAGGCACATGCTGGCTGAGGAGGACTTCACCAG___AGAGCCTCGCAAGATCATCCTGCACAAAGGCTCCACAGGCCTGGGCTTCAACATCGTAGGAGGAGAGGATGGAGAAGGCATTTTTGTCTCCTTCATCCTGGCAGGAGGCCCAGCTGACCTGAGTGGGGAGCTGCGCAGGGGAGACCGGATCTTATCG___GTGAATGGAGTGAATCTGAGGAATGCAACTCATGAGCAGGCTGCAGCTGCTCTGAAACGGGCCGGCCAGTCAGTCACCATTGTGGCCCAGTACAGACCTGAAG___AATACAGTCGCTTTGAATCGAAGATACATGACTTACGAGAACAAATGATGAACAGCAGCATGAGCTCTGGGTCTGGGTCCCTCCGAACAAGTGAAAAGAGGTCCTTGTATGTCAG___GGCCCTGTTTGATTATGATCGGACTCGGGACAGCTGCCTGCCAAGCCAGGGGCTCAGCTTCTCTTATGGTGACATTCTGCATGTCATTAATGCCTCTGATGATGAGTGGTGGCAGGCAAGGCTGGTGACCCCACACGGAGAAAGTGAGCAGATCGGTGTGATCCCCAGTAAGAAGAG___GGTGGAAAAGAAAGAAAGAGCTCGATTGAAAACTGTGAAGTTCCATGCCAGGACGGGGATGATTGAGTCTAACAGG___GACTTCCCGGGGTTAAGTGACGATTATTATGGAGCAAAGAACCTGA___AAGGACAAGAGGATGCTATTTTGTCATATGAGCCAGTGACACGGCAAGAAA___TTCACTATGCAAGGCCTGTGATCATCCTGGGCCCAATGAAGGACCGAGTCAATGATGACCTGATCTCCGAATTTCCACATAAATTTGGATCCTGTGTGCCAC___ATACTACCCGGCCTCGACGTGATAATGAGGTGGATGGACAAGACTACCACTTTGTGGTGTCCCGAGAACAAATGGAGAAAGATATTCAGGACAACAAGTTCATCGAGGCGGGCCAATTTAATGATAACCTCTATGGGACCAGCATCCAGTCAGTGCGGGCAGTTGCAGAGAGG___GGCAAGCACTGCATCTTAGATGTTTCCGGCAATGCTATCAAGAGACTGCAGCAAGCACAACTTTACCCCATTGCCATTTTCATCAAGCCCAAGTCCATTGAAGCCCTTAT___GGAAATGAACCGAAGGCAGACATATGAACAAGCAAATAAGATCTATGACAAAGCCATGAAACTGGAGCAGGAATTTGGAGAGTACTTTACAG___CCATTGTACAGGGTGACTCACTGGAAGAGATTTATAACAAAATCAAACAAATCATTGAGGACCAGTCTGGGCACTACATTTGGGTCCCATCCCCTGAAAAACTCTGAAGAATCCCCTCCAACCATTCTCTTGTGAACAGAAGAAATCAAGTCCCTCTTCCCTCCTCCCTCTTCATTCCTGTCCCCATGGGGAGAACAAATGCTACTGTTCTTGTCCCCTTTTTTAGATATGTCAAAAAAAATTAAGTTTTCTAGTCCTGTTCTTTTTTTTTTTTTAAGTTTTTGTTTGTTTCAGTTTATTTTTTGGGATGATGCCATCTCATTCATCATGTGACTGTGCCCATTCCTGCATGGACCTTTCCCAAGCGCTAGCACAGGTGCAAAATCCATCAGAGCCATTGTTTTCATAAAAACCAAGCAGAAGTGAAGAGAAAAGAGGAGGACTGATGGAAAGACAGACTCTGGACAGCTGCACGGCTTGTGAAGTGAGCTAAATGCACCACATGATGAGATGCTCCTGGGCATTTCTCCCTATCTGTACTGCTGTCTTGCAGCTCTGAACGGTGCAACGTAATGGCGACAGAAAGTATCTTATTTATATATAGATATATATATGTAATTTATATAAAATATATAGAAATTATTATATATATATATTATACACTCTCATATAATATATATATATTCACACACATTTGGGTTAGAAAATCTATGGAGACTTCATCAATGGTACTAT)GTTATTAGAGAAATGCTTTAATTTTCATATTCCAATCAGATGGCATCTTCTATCCCAGCTGGTTGGGAAGGGATTGAAGATGGTAGCAAGTGCTGCACTAAGGGCACTCGCATTTGGTCATTCTCTTGAGAGCTAGGAGGGGTCAGCCTGAGGCCGGAGAGGAAGGGC|ACATGCTTGTAACCCCAGCTATGGGAGGCTGAGGCAGTAGAACTGCCTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAG . 11BR024 ENSG00000153944.11 ENSG00000263317.1(324200),ENSG00000226364.1(2220) +/+ ./+ chr17:57529724 chr17:52859901 CDS/splice-site intergenic duplication 0 13 0 91 45 medium out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000153944.11 . ENST00000284073.7 . downstream upstream duplicates(1) ^(GTGCGAGGCAGCGGGGCTGAGCTAAGCCGAGCCCACGTGTGACGGCTCTCGCCGCTGCCCCGGCTCCGCCGCTCGCAGAGAGATTCGGAGGAGCCCGGGCGGGGGGGAGGAGGAGGGGGAGGAGGGAGCGGAGATCTCGGGGCTCGGAGCCGGCCGCCGCTCCGCTCCGATCGCTGTGGGGCTTGGTTTTTTGGGGGTGGGGGGGCGGGGGGGCTCAGATATGGAGGCAAATGGGAGCCAAGGCACCTCGGGCAGCGCCAACGACTCCCAGCACGACCCCGG___TAAAATGTTTATCGGTGGACTGAGCTGGCAGACCTCACCAG___ATAGCCTTAGAGACTATTTTAGCAAATTTGGAGAAATTAGAGAATGTATGGTCATGAGAGATCCCACTACGAAACGCTCCAG___AGGCTTCGGTTTCGTCACGTTCGCAGACCCAGCAAGTGTAGATAAAGTATTAGGTCAGCCCCACCATGAGTTAGATTCCAAGACG___ATTGACCCCAAAGTTGCATTTCCTCGTCGAGCGCAACCCAAG___ATGGTCACAAGAACAAAGAAAATATTTGTAGGCGGGTTATCTGCGAACACAGTAGTGGAAGATGTAAAGCAATATTTCGAGCAGTTTGGCAAG___)GTGGAAGATGCAATGCTGATGTTTGATAAAACTACCAACAGGCACAGAG|CTCCTGAGAAGTTTCCTGTCAATTTCTTGGCTGATCAAGAATCTTCAAAGTAGAAGCATTTCTAACCATTGATTATATATCTTCAGTCTTCCAAAATATTATTTCCCTCTTTACATTTTTGTTATCCTCCTTTGAAAAACAGAATATGcACTCACAAAAAATAAAAACAAAAACACAGAATAACCCCCAAGAACATAAGAACAACTTTACCAAGTTTAGATGAAACACC MEANGSQGTSGSANDSQHDPGKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLGQPHHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSANTVVEDVKQYFEQFGKVEDAMLMFDKTTNRHR|apekfpvnfladqessk* 11BR024 ENSG00000151366.13 ENSG00000074201.9 -/- -/+ chr11:78072998 chr11:77635379 CDS/splice-site intron inversion/5'-5' 0 8 0 2606 55 medium out-of-frame . NADH-ubiquinone_oxidoreductase_subunit_b14.5b_(NDUFC2)(100%)| . . ENSG00000151366.13 ENSG00000074201.9 ENST00000281031.5 . upstream upstream mismappers(4) ^(GAGTCCGGCGCGCAGAGGAGGAGGAGAAAGCTGACCGCTTAGGCCGGGGTAGTGGTCGTCGTGGTTTTCCTTGTAGTTCGTGGTCTGAGACCAGGCCTCAAGTGGAAACGGCGTCACCATGATCGCACGGCGGAACCCAGAACCCTTACGGTTTCTGCCGGATGAGGCCCGGAGCCTGCCCCCGCCCAAGCTGACCGACCCGCGGCTCCTCTACATCGGCTTCTTGGGCTACTGCTCCGGCCTGATTGATAACCTAATCCGGCGGAGGCCGATCGCGACGGCTG___GTTTGCATCGCCAGCTTCTATATATTACGGCCTTTTTTTTTGCT)GGATATTATCTTGTAAAACGTGAAGACTACCTGTATGCTGTGAGGGACCGTGAAATGTTTGGATATATGAAATTACATCCAGAGGATTTTCCTGAAGAAG|TCTCACTCTGTCgCCCAGGCTGGAATGCAATGGCATGATCTCGGCTTACTACAACCTCCGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCACACCCGGATAATTTTTGTATTTTAGTAGAGACAGGGTTTCACATTGTTGGCCAG MIARRNPEPLRFLPDEARSLPPPKLTDPRLLYIGFLGYCSGLIDNLIRRRPIATAGLHRQLLYITAFFFAGYYLVKREDYLYAVRDREMFGYMKLHPEDFPEE|vslcrpgwnama* 11BR024 ENSG00000259112.2 ENSG00000074201.9 -/- -/+ chr11:78072998 chr11:77635379 CDS/splice-site intron inversion/5'-5' 0 8 0 2606 55 medium out-of-frame . NADH-ubiquinone_oxidoreductase_subunit_b14.5b_(NDUFC2)(100%)| . . ENSG00000259112.2 ENSG00000074201.9 ENST00000530054.1 . upstream upstream mismappers(4) ^(CGTGAGTCCGGCGCGCAGAGGAGGAGGAGAAAGCTGACCGCTTAGGCCGGGGTAGTGGTCGTCGTGGTTTTCCTTGTAGTTCGTGGTCTGAGACCAGGCCTCAAGTGGAAACGGCGTCACCATGATCGCACGGCGGAACCCAGAACCCTTACGGTTTCTGCCGGATGAGGCCCGGAGCCTGCCCCCGCCCAAGCTGACCGACCCGCGGCTCCTCTACATCGGCTTCTTGGGCTACTGCTCCGGCCTGATTGATAACCTAATCCGGCGGAGGCCGATCGCGACGGCTG___GTTTGCATCGCCAGCTTCTATATATTACGGCCTTTTTTTTTGCT)GGATATTATCTTGTAAAACGTGAAGACTACCTGTATGCTGTGAGGGACCGTGAAATGTTTGGATATATGAAATTACATCCAGAGGATTTTCCTGAAGAAG|TCTCACTCTGTCgCCCAGGCTGGAATGCAATGGCATGATCTCGGCTTACTACAACCTCCGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCACACCCGGATAATTTTTGTATTTTAGTAGAGACAGGGTTTCACATTGTTGGCCAG MIARRNPEPLRFLPDEARSLPPPKLTDPRLLYIGFLGYCSGLIDNLIRRRPIATAGLHRQLLYITAFFFAGYYLVKREDYLYAVRDREMFGYMKLHPEDFPEE|vslcrpgwnama* 11BR024 ENSG00000145996.11 ENSG00000112242.15 +/+ +/+ chr6:20649377 chr6:20479846 CDS/splice-site CDS/splice-site duplication 1 4 0 107 96 medium out-of-frame . Uncharacterized_protein_family_UPF0004(100%)|E2F/DP_family_winged-helix_DNA-binding_domain(100%),E2F_transcription_factor_CC-MB_domain(100%) . . ENSG00000145996.11 ENSG00000112242.15 ENST00000274695.8 ENST00000346618.8 downstream upstream . ^(AAATAAACGTGGCGGGACGTATGTGTCATGGCGCTCTCCATCTAAAGTCTGTGCAGCTTCCGGAGAGTGGCGGGTTGATTTTCTCACTTTGGACTGGTTTTTACTTCCCGACTTCTGG___ACTCATCTTTCAAGAGGACTTTAGACTAATTGCAGATAATTAAG___AGAATATGCCTTCTGCATCCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAGGCATTTTGTAAGAAAGGATGTTGTCCCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGACAG___CACTATTCCAGGCATACAGAAAATTTGGATACGAACATGGGGTTGTTCTCATAATAATTCAGATGGAGAATATATGGCTGGA)CAGCTAGCTGCTTATGGCTATAAAATTACAG___AAAATGCATCCGATGCAGATTTATGGCTCCTGAACAGTTGCACTGTAAAAAACCCAGCTGAAGACCACTTTAGAAACTCAATTAA|GCAAAGCGAAGGCTGGAGCTAGGAGAAAGCGGTCATCAGTACCTCTCAGATGGTTTAAAAACCCCCAAGGGCAAAGGAAGAGCTGCACTACGAAGTCCAGATAGTCCAAAAA(___CTCCAAAATCTCCCTCAGAAAAAACGCGGTATGATACGTCTCTTGGTCTGCTCACCAAGAAGTTCATTCAGCTCCTGAGCCAGTCACCCGATGGGGTATTGGATTTGAACAAGGCAGCAGAAGTGCTAAAAGTGCAAAAGAGAAGGATTTATGATATCACCAACGTTCTGGAAGGCATCCACCTCATTAAGAAGAAGTCTAAAAACAACGTCCAATGGAT___GGGCTGCAGTCTGTCTGAGGATGGGGGCATGCTGGCCCAGTGTCAAGGCCTGTCAAAAGAAGTGACCGAGCTCAGTCAGGAAGAGAAGAAATTAGATGAACTGATCCAAAGCTGCACCCTGGACCTCAAACTGTTAACCGAGGATTCAGAGAATCAAAG___GTTAGCTTATGTTACATATCAAGATATTCGAAAAATTAGTGGCCTTAAAGACCAAACTGTTATAGTTGTGAAAGCCCCTCCAGAAACAAGACTTGAAGTGCCTGACTCAATAGAG___AGCCTACAAATACATTTGGCAAGTACCCAAGGGCCCATTGAGGTTTACTTATGTCCAGAAGAGACTGAAACACACAGTCCAATGAAAACAAACAACCAAGACCACAATGGGAATATCCCTAAACCCGCTTCCAAAG___ACTTGGCTTCAACCAACTCAGGACATAGCGATTGCTCAGTTTCTATGGGAAACCTTTCTCCTCTGGCCTCCCCAGCCAACCTCTTACAGCAGACTGAGGACCAAATTCCTTCCAACCTAGAAGGACCGTTTGTGAACTTACTGCCTCCCCTGCTGCAAGAGGACTATCTCCTGAGCCTCGGGGAGGAGGAAGGCATCAGCGATCTCTTCGATGCTTACGATTTGGAAAAGCTCCCACTGGTGGAAGACTTCATGTGTAGTTGATTATGCTTCGTGTGAACTCTCCTTAAAAACCGATATTTTTTTATCATGGAACCAGAACATCTGTCATGCAGTGTTGTCCCTTCCTACCTTCTTCCTCCAAGAGAGTATCATGAAGTAAACTACAAACTTCAGAAGAAAGCTGACATTTTAATGAATTTTTTAAAAAATTAATAAACAAATTGTCTAAACGCACAGTTGCAGGCTCCCTTGGGAAAGCCCTGCTTTGCTCCAGGCTCCAAGATCTCCTGGCTAAGTCAGCAAGTGAGAAAATGTGCAATCAGGTGTCTCTCACCCCGAATTGTCCTTCCTCCTTCCTCCCCGGATTGGCTTGCTGTGCCTGACGGATGGGCTGTAGAATGGGGTCTGGCCACCTGGCCTGCTGGGAAACAGCAATCTTCCTTAATAGCATTTCAAGCCGTGCCTTCTCCGCAGAATGCATGTCTTTGAGGTCTGCTAATATGGAATGGAACTGCAGCAAATGCAAACTTGAAGTCATGCAAAAGTATGAAATGGATTTCTTCAGCTCTTCTTAGGAATATTTAAATTACTGTCATAATTCAGTTTAAGCTATGAACTGTGTGTCCCAGTAGGAGGTCAAGAAAACCTCCACAGCCTTCTGGATGAAGAACCTGTTTTCAAATATACTTGTTGCAGATACAGAAGACTAGTAGAGTTCTGCCACTCTAAGCTGTTGTGGATTTTCCTGTCTCCATGAACCACTCCCATTCCCCCGTCCCCAATGTGTTTGTGAGTTTCCAGTTGATTTGTAGCAAATGCCTACTTAGTTCTTTGTGGATTGTTCTAGACTTTTAATTTTTTTAGCTGCCATTTAAGCATTCCTGTGGCACCCATCACCATTTCAATTTAATTGTTTACTTTGAAGCGGTTTTTGCAAATTCATATTACTTAAGCAGAGGGAGAGAACCTCTACTGATCAGAGCATCTAAACCTGTGTGATCTAAGGTTTATCAGCCTCTGCAAGGAGCTTTGTCCCATCGTGCTTCCATTCCCAGGAGGGGGAGCTTGGAGCGAGTCAGTCCTGGGGCTTGCTGACATGGGTGGCCCATTGGAAAGGAGAACCAGGTCAGATGATGTAACAGCCCCAAGGAGCAGCAGGCATGGGTCCCTCCATCCTTGGGCTTCCCGGGCCCCTGTGACAGGGGAAAGGGCTCTCTTACACCGCACTCAGGGAGACCACTTCTCAGGATGGGGTCAGATGGAGAGACCTCTAGGGAGAAAGACATCCCCATTGTGTGAGTGGCATTTCCTTAAGCTGGCAGGAACAGGGAGCAGCCCTGTGTCGGGGGCTGGAATAGTTCTGGCCAGACCCCGTTCCCCTTCCTCTATGAAGGAATAAGTTGGACCAAGGGAAGTCGGGGACGTAAAAAATGAAGCAAAACAATGCCAGGGTGTCTCCCGCTTTACTCTTCAGGAATGGTGTCCCAAGTTGGAGGCTTTGTGTCAGCTGCAAATCCTACCAGTTATGTCCAAGAATGGCTTTCCCTCGGGCAGGTGGCAGCGGCCATCTCCCACTGGGAATATGGCGTAGTATCTCCGGTCCATTCCTTGGATGCTAAGGACTGCGGGAATGAGGGAGTCAGATAAAGAACAAACCTCGAAACGAACAGTTAAATTGAAATGCTATGTGCCTGACCCAATGGTAGGCACATAGTAGGCACTCAACTCATATGTTTAATTGAATTGAAAATATCCCTTAGGAAAAAAAAAAAACACACAAAAAACCACAAGAGCCCCAGCCAGTTTACTCCAGGTAGATTTCCACAATATGCAAAGTGGTGGTGGGGTCAAGACAGATGACACCAGCACTTTAAACTCTTTGTGTGGGTATGCGTGGGTGTATGTTTGGGAAGAAAAACAAAGGTGCAGACTATCTTCCTTTTTTTCTTCTTCAGCCTCCATCCCTGGCCTCCTCCCCTCACACACACTGGACTTGGTACAAAATGTCGGTGTGGTCCTAGATGAAGCATTGGGGTGGGGGAGGGAGAGGGAGCTTTGTGTTAAGTGCCTACTGGAAATGCACTGTGGGGTTTTTTCCTGTATGGGAAACCATTTATGCCAAGCTTTTCCCCATTTCCCATATTTATCTCATCTGGTTAGCTGCCTCTGCTTCCAGCTTTGTGTAATTCTCTTTGCCAGCTGCACAAAGCTGATTTTTTCCAAAGTCTAAAGACTGAGCTCACCTGGCTAGATTGTTGTGTGTTTTGTTGAATTTTTTCATAATGTAATGCCGTATTTATTGTTTTTAAAATGAAAGGAATACTAATAAGTCTTAAAAGTTCCTTCATGCATAAGATTTTTTTCCAGTTACTGGGTTTAACTGGTGTACATTAATTAGATGTCCATACTGTATTTTGTTTGCATTAAGTAATTTTCTTTTTGACTTAGTATCCGGCACACAAAGTGGGTTAGTACTACAGTATTTGCGTTACTTTAAGTACTAAGTATGCAGGTTTCCTGGTACCATTGAGTTGCTGCTATTAAAGCTCACACACGAAATGGCTAAAAGTTACAAGTGTGCAAATTATGACTGCGTGAGCCTTAGAAAATAAAATGTATAAAGGGCAACACATGAGCTGTCAAACAGTGTTAGGAGTGTGTTTATATGTACAGAGTTGTGCATAGCAATCGTTTTATTTAAGTTGATATGTAGTCTACTCACATTTTCATTATTTAGCAATTTTGTACAAAAATAGCAATTAATTTGTAAACACTGCCAGAATACTTTCTAGCTGCTTTGTAATTTTTTAAGAGTGTTATTTTGTTTTTGTTTTTCTGTTCTTTGTTGTGGCTCTTGTTTTCATTTTTGTTGTACGTGTAGATCTGTAAATAAAATTGCAGTATTTAAAGCTTAAGCTTTCAGGAAAAAGAAAATAAGAATTCAGTGTGTGCATGACAACTCGTGTGTATGAGAAGGAGGGATATGAAGGAAGATGGCTTGCAGAGTAAGTCGGGTGGCAATTGTCAGGGTGTGGGAATTTCTTTTCCTACGGGGTACGTGATTTTGTAAAAAGGAAGTATTTCTCCCAAAATTGGGAGTAGGCAAACTACTAATCAGTTTAGCTTTGTGTTGTATGCTAGTTTAAAAAAGAAAATATGTAATATAATGTAAAAAAAAACAAAAAAAAGCTTTTATGATGGATTTTGTAAATAGATTTGTTACAGGGTGACCTGTTCTCTAGCTGTGATCTTACCACTTCAAATGGGTGTAATTTGAATAAATTTTGTATGGTAAAGGATCAATAAAATGATTTTTTTTAAGAGTT)$ MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAYGYKITENASDADLWLLNSCTVKNPAEDHFRNSIk|qsegws* 11BR024 ENSG00000157193.18 ENSG00000157193.18 -/- -/+ chr1:53326873 chr1:53265752 CDS/splice-site intron inversion/5'-5' 1 1 0 13 6 medium out-of-frame . Low-density_lipoprotein_receptor_domain_class_A(100%)| . . ENSG00000157193.18 ENSG00000157193.18 ENST00000306052.12 . upstream upstream . ^(GAAATGCAGCCGAGGAGCCGGGGCGGGCGGCAGCGGCGGCGGCGGCGGCGGCGGGGGCAGCGGCAACCCCGGCGCCGCGGCAAGGACTCGGAGGGCTGAGACGCGGCGGCGGCGGCGCGGGGAGCGCGGGGCGCGGCGGCCGGAGCCCCGGGCCCGCCATGGGCCTCCCCGAGCCGGGCCCTCTCCGGCTTCTGGCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCAGCTCCAGCATCTTGCGGCGGCAGCGGCTGATCCGCT)GCTCGGCGGCCAAG___GGCCGGCCAAGGAgTGCGAAAAGGACCAATTCCAGTGCCGGAACGAGCGCTGCATCCCCTCTGTGTGGAGATGCGACGAGGACGATGACTGCTTAGACCACAGCGACGAGGACGACTGCC|TGACTCAGTGTCTACCCAGCGCCTGGTCATCGGCATTCCTGCCAAGTGGATCTCAGGACAAAGAAAGGACATGACTGCCTGAAGAGGGCCCAGACATGCAGTGGGGCAGGTGCTGGCATCTGAGAAAGTCCTA MGLPEPGPLRLLALLLLLLLLLLLQLQHLAAAAADPLLGGQGPAKeCEKDQFQCRNERCIPSVWRCDEDDDCLDHSDEDDC|ltqclpsawssaflpsgsqdkert* 11BR024 ENSG00000124459.12 ENSG00000160396.9 -/- -/- chr19:43918870 chr19:40384139 CDS/splice-site CDS/splice-site deletion 2 0 0 18 0 medium out-of-frame . KRAB_box(100%)|Protein_kinase_domain(100%) . . ENSG00000124459.12 ENSG00000160396.9 ENST00000269973.10 ENST00000291823.3 upstream downstream . ^(GGGCACTTCCGCGGCAAGAGGTTGAGAGCGCGGCCTTCATTCCTCTCGTGGAAGTGAGTGAGTCCTGGGACCCCGCGACCTGTTTTAACTTTTATGGTTTGGTCGTAGGATCAGCAGGGCTCGCACTTCGGTCAGCAGGAAAAGACGCTGCGGCGAGCAGCGGAGGGCGGAGTTGAATGGCTGGGCAGCTGATTGCCTTACTGTATCCGGAGCTGCTGCGTTCGGGGCGGTTCGGGAGTCCCCTGGTTGGAAGTGGACCTGAATGGGGAGGCGTCTGAGGATCTCCTGGGCTCTCAGCGGCCCGACCCGCCTTCCCCCACCTCCCACAGCTCTGTAGCTTCCTAGCGGTGTAACGTTGG___GAAAGGAGGCTGTTCTTGGACTATGCCTGACCCGTTTTTTAAGAAAGAGTGCATCACTCAACAGGTGGCGTCTGGAGTTATCCTCTGTGGATTTTCCAGGATCTCAGACAAGATCGTGCAATCTCCCAGCCTCCTTTCCTTCCCCTGCCCTGACTTCTGAAAGAATGCTGCGGGAGAGGAGGAAGGAGAGCATCCTGGCTTCTGGCAGCAGAGCCCCACTGTGACAGGACCTAGCATTCACCTTCCTCTTCTGTTCCGAGTGCGAGAAG___ACTTCAGGGACCTCTGTTTCATGGACATTATCATATTCTTCTCAAGAGTACCCAGCAAGAGGTTTGCAAAGAGGAGTTATTCAGTGA___AATCAGAATCATACCCTGAGAGCTACAAGAACTCCATTTTTCACTGTGCAGAGGCTCTCTGCTGAAGGGTCAAGTGGAATCTGGAATCCAGCCCATGTTTCCCCATCATCAAGCCATGTGAAGCTGCAGACTCC___AAGCAACAGAGAGACAAGATTTAGAATACTGGCTCTGGTATGAAAGCTGGATTCAGGTACTGTTCCTGCCTCTTGACCTCACCAAGCCTCAGCTTCCTCGCCTGTTAAATGGATACAATTGTCGTCATTATCATCTGTTGAGAACTCCCTAAAATGCCAG___CTGAGCATAGGCACAGAAGTTTAGGTGTTTGGACCAAGGTCACACAACTGATACAACAGTAGCTTCTTCACAG___ACTTGGCACTTCTCCAGAAGGAGGAGGACAAAATGACGAAGTCTAAG___GAGGCAGTGACATTCAAGGACGTGGCTGTGGTCTTCTCTGAGGAGGAGCTGCAACTGCTGGACCTTGCCCAGAGGAAGCTGTACCGAGATGTGATGCT)GGAGAACTTCAGGAATGTGGTCTCAGTGG___GGCATCAGTCCACACCAGATGGCCTACCACAGTTAGAGAGAGAAGAAAAGCTGTGGATGATGAAGATGGCAACCCAGAGAGATAACTCCTCAG|GTGATTGACTTCGGATCCGCCAGCATTTTCAGCGAGGTGCGCTACGTGAAGGAGCCATACATCCAGTCGCGCTTCTACCGGGCCCCTGAGATCCTGCTGGGGCTGCCCTTCTGCGAG(AAGGTGGACGTGTGGTCCCTGGGCTGCGTCATGGCTGAGCTGCACCTGGGCTGGCCTCTCTACCCCGGCAACAACGAGTACGACCAGGTGCGCTACATCTGCGAAACCCAGGGCCTGCCCAAGCCACACCTGTTGCACGCCGCCTGCAAGGCCCACCACTTCTTCAAGCGCAACCCCCACCCTGACGCTGCCAACCCCTGGCAGCTCAAGTCCTCGGCTGACTACCTGGCCGAGACGAAG___GTGCGCCCATTGGAGCGCCGCAAGTATATGCTCAAGTCGTTGGACCAGATTGAGACAGTGAATGGTGGCAGTGTGGCCAGTCGGCTAACCTTCCCTGACCGGGAGGCGCTGGCGGAGCACGCCGACCTCAAGAGCATGGTGGAGCTGATCAAGCGCATGCTGACCTGGGAGTCACACGAACGCATCAGCCCCAGTGCTGCCCTGCGCCACCCCTTCGTGTCCATGCAGCAGCTGCGCAGTGCCCACGAGACCACCCACTACTACCAGCTCTCGCTGCGCAGCTACCGCCTCTCGCTGCAAGTGGAGGGGAAGCCCCCCACGCCCGTCGTGGCCGCAGAAGATGGGACCCCCTACTACTGTCTGGCTGAGGAGAAGGAGGCTGCGGGTATGGGCAGTGTGGCCGGCAGCAGCCCCTTCTTCCGAGAGGAGAAGGCACCAGGTATGCAAAGAGCCATCGACCAGCTGGATGACCTGAGTCTGCAGGAGGCTGGGCATGGGCTGTGGGGTGAGACCTGCACCAATGCGGTCTCCGACATGATGGTCCCCCTCAAGGCAGCCATCACTGGCCACCATGTGCCCGACTCGGGCCCTGAGCCCATCCTGGCCTTCTACAGCAGCCGCCTGGCAGGCCGCCACAAGGCCCGCAAGCCACCTGCGGGTTCCAAGTCCGACTCCAACTTCAGCAACCTCATTCGGCTGAGCCAGGTCTCGCCTGAGGATGACAGGCCCTGCCGGGGCAGCAGCTGGGAGGAAGGAGAGCATCTCGGGGCCTCTGCTGAGCCACTGGCCATCCTGCAGCGAGATGAGGATGGGCCCAACATTGACAACATGACCATGGAAGCTGAG___AGGCCAGACCCTGAGCTCTTCGACCCCAGCAGCTGTCCTGGAGAATGGCTGAGTGAGCCAGACTGCACCCTGGAGAGCGTCAGGGGCCCACGGGCTCAGGGGCTCCCACCCCGCCGCTCCCACCAGCATGGTCCACCCCGGGGGGCCACCAGCTTCCTCCAGCATGTCACCGGGCACCACTGATGGTGATTCCACCCCTGCCCATCACTGGGGGCTGCGCTAGCTGGGCTGGCATTCCCTCCCAACCTGAACTGCTCCTCAGAGCCATCTCCTGAACCCACAAATTATTCTTACAGAAAGATAGTTATCCAGAAATTCTCATTCCCCGTCTGCGGTGCGGTGCGTGCCTGCACACCTCTCCTAAACACAGCAGGGCTTTGGAGTCTGGCCCATGCTCCTTGGCCAGAAGGACAGCAGGAAAGGGGGCTGCACCCCGCTGGCCCTGCGCTCGCCCTTGGCCCTGCTGCCTCTGTCTATTTCAATATAGAACTGTTCAGCA)$ MTKSKEAVTFKDVAVVFSEEELQLLDLAQRKLYRDVMLENFRNVVSVGHQSTPDGLPQLEREEKLWMMKMATQRDNSS|gd* 11BR025 ENSG00000185630.19 ENSG00000201987.1(30210),ENSG00000225487.2(36776) +/+ ./+ chr1:164821626 chr1:164884542 CDS/splice-site intergenic deletion/read-through 3 10 1 157 16 high stop-codon . Homeobox_domain(100%),PBC_domain(100%)| . . ENSG00000185630.19 . ENST00000367897.5 . downstream upstream . ^(ATGGACGAGCAGCCCAGGCTGATGCATTCCCATGCTGGGGTCGGGATGGCCGGACACCCCGGCCTGTCCCAGCACTTGCAGGATGGGGCCGGAGGGACCGAGGGGGAGGGCGGGAGGAAGCAGGACATTGGAGACATTTTACAGCAAATTATGACCATCACAGACCAGAGTTTGGATGAGGCGCAGGCCAG___AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTGTTGTGTGAAATCAAAGAAAAAACAG___TTTTGAGTATCCGAGGAGCCCAGGAGGAGGAACCCACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCTGAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGTTCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATCTACCATACGGAGCTGGAGAAATACGAGCAG___GCCTGCAACGAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATGGTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGCGAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG___GCGGAAGAGACGGAATTTCAACAAGCAAGCGACAGAAATCCTGAATGAATATTTCTATTCCCATCTCAGCAACCCTTACCCCAGTGAGGAAGCCAAAGAGGAGTTAGCCAAGAAGTGTGGCATCACAGTCTCCCAG___GTATCAAACTGGTTTGGAAATA)AGCGAATCCGGTACAAGAAGAACATAGGTAAATTTCAAGAGGAAGCCAATATTTATGCTGCCAAAACAGCTGTCACTGCTACCAATGTGTCAGCCCATGGAAGCCAAGCTAACTCGCCCTCAACTCCCAACTCGGCTG___GTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGT|GAAATTGCAAGAACCTATTGATGGCTTGGATGCTCTGGTGGTGACAGCAAGTCCTCTTCTCTTGACTGAAGAAATGTCTTCCCCTATCTGAAAAGTGGCCTCTCTTCCGGAATGACACATACTGACTTTTGAAGAAGCAAAAGGATACCTGCTGGCCAGTCATATCAGCCAAAAAACTCTGGTGAGCAGTGAGTTGGCAGATGTTGCAACTGG . 11BR025 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 5 7 0 12 15 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream . CCCGCTCACCCTCAA___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGC(ATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR027 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 9 1 33 34 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(4),mismatches(3) CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGG(TGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR027 ENSG00000234869.1(29094),ENSG00000075240.17(43096) ENSG00000075240.17 ./+ +/+ chr22:46577290 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 7 11 1 25 42 high . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream duplicates(3) CGGCGCCGCTGGGCTCCCGGGCGGGCGGCAGGCGTAGCGCGGCCGGGCGGCCGGCGAGGGGGGCGCCGCGGCGGGTGGATGAGAGTTGGCCCCGATATCCGCTCAGG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGGACAGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCATCATGGCCACAGGAGTCCAGGACTTTAACCGGACAGAGTTTGATCGAC(TGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC___AGGAGGAGCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 11BR027 ENSG00000178222.13 ENSG00000250259.1(29421),ENSG00000178222.13(13085) -/- ./- chr4:1073599 chr4:1058393 CDS/splice-site intergenic deletion/read-through 7 11 0 29 29 high out-of-frame . zinc-RING_finger_domain(100%)| . . ENSG00000178222.13 . ENST00000433731.7 . upstream downstream duplicates(4),mismatches(1) ^(GCAGAGCTGCCCGCCTTCGGGCCCTGCGCGGGGAGGCTGGTCCCAACCTTGCGTGGGCTTCGCGTGGGCCCGGCCTCGCCGCTGCGGTCGCCCGCCTGGCATGGCCAACTGGGTGTTCTGTAATCGCTGCTTCCAGCCGCCCCACAGGACGTCGTGCTTCAGCCTCACCAACTGCGGGCACGTGTACTGCGACGCCTGCCTCGGCAAAG___GTAAAAAGAATGAATGCTTGATTTGTAAAGCTCCTTGTCGTACAGTTTTGCTTTCAAAGCAT___ACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAG___ATTTTAGAATTTCAAGAAAAACACAGGAAGAGATTGTTAGCCTTCTATAGAGAAAAG___ATTTCTAGGTTGGAAGAATCCCTTAGGAAGTCAGTGCTGCAGATAGAACAACTACAAAG___TATGAGATCATCACAACAAACAGCTTTCAGCACAATAAAAAGTTCAGTTTCAA___CAAAACCACA)CGGATGCCTGCTGCCACCTCACTCATCAGCCCCCGACAG___ACTGGAGTCGATGGAAGTTGATCTCTCTCCTTCTCCGATTAGAAAA___TCTGAGATAGCAGCCGGCCCTGCGAGAATCTCCATGATTAGTCCACCTCAAGATGGACGAATGG|GCAGCGTCTCCTCCCTGGGCCCCGAGCATCCCGGCCTGACAACGAGTCAGAGGAGCATGGGAAAGCCTCTCAG___TGTGAAGTTTTGAAGTCATTTCAAAGACAAAGTTGTGTTTTTACCGCGACTTCCATGCCTCCTGCGGGACCTGCTCACCTTGGGGCAGTGACACCTGAAAGATGAGCACCCAGCCACCCGCTCTGCCCC MANWVFCNRCFQPPHRTSCFSLTNCGHVYCDACLGKGKKNECLICKAPCRTVLLSKHTDADIQAFFMSIDSLCKKYSRETSQILEFQEKHRKRLLAFYREKISRLEESLRKSVLQIEQLQSMRSSQQTAFSTIKSSVSTKPHGCLLPPHSSAPDRLESMEVDLSPSPIRKSEIAAGPARISMISPPQDGRM|gsvsslgpehpglttsqrsmgkplsvkf* 11BR027 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 5 8 0 21 58 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),inconsistently_clipped(1) AGTCGCTAGGCTTaGCCTCAAACTTTGCTGTTGCAGCGGAGCGGCaCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC?GCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCT(GCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR027 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 5 1 40 21 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCA)GTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR027 ENSG00000197892.13 ENSG00000260348.1(3824),ENSG00000260679.1(6820) -/- ./- chr8:29195554 chr11:69914818 intron intergenic translocation 22 11 1 35 35 medium stop-codon . Kinesin_motor_domain(100%)| . . ENSG00000197892.13 . ENST00000524189.6 . upstream downstream duplicates(3),mismatches(2) ^(AGACGGAAGCCGAACGAGTTCCTCGGCGGCTGCAGGATGGGGGACTCCAAAGTGAAAGTGGCGGTGCGGATACGACCCATGAACCGGCGAG___AGACTGACTTGCATACCAAATGTGTGG)TGGATGTGGATGCAAACAAGGTTATTCTTAATCCTGTAAATACGAATCTTTCCAAAGGAGATGCCCG___GGGCCAGCCGAAG___GGAATGTGGAGCCCTGCTTGAAGTGGGCACAAAGTCTGTTTCTTAACTGACCATGAAGTTACTTGGAACTTCgAGGAAATTTAGATTTCTGTCTCCATTCTTG|CGAGCTTAACCACATCCTCCTGGCATCAGACCCACCTGGGAACAAAAATACCAGGTGTGGGTGGGTGTGGAGCCTCCGGAGACACTTCCCAGCCTGGCACAGCCCAGCCAGGACACCTCTCAAAG___GAGGTGCCTCCCACCCAAATCTTCCGTCCGGGAGAAGGAATGAGT . 11BR027 ENSG00000242779.7 ENSG00000242779.7(4666),ENSG00000268964.3(2176) -/- ./- chr19:53037770 chr19:53042564 exon/splice-site intergenic duplication 5 0 0 6 6 medium . . . . . ENSG00000242779.7 . ENST00000600425.5 . upstream downstream . ^(TTCCTGCAGACCCGGAAACAGATCG)CGCGGAGTGAACCTtGTATGGCGGCGCGTGGATTTCCCTCTGTCTATTATTAAGATTAAACTTGGGCTTCGCAGTCCTCTCACCTCCATACCCCGGATTTGGAG|TTACAGAGACCCTTGAAGTTAGAAATGTAGAGCCATATCTTCCAACAAGAACTGATCAGTGTCTTGCATGTGATCGAAATGAATACCACAC . 11BR027 ENSG00000051825.15 ENSG00000051825.15 -/- -/- chr12:123155700 chr12:123158035 3'UTR intron duplication 1 1 0 24 3 medium stop-codon . . . . ENSG00000051825.15 ENSG00000051825.15 ENST00000606320.6 . upstream downstream . ^(CCCTCGGGTAACGGTCGCGAGAGGCCGCTTGCATGACCCTGACATCGGCAGCGGGAGCGGCGGCCAG___ACTCTCTTGGAAGTTTAGGATATTTCACAGTTCTGAATGTTAGCCACTGAAAATGCCAGTAGATGATGAAGCCTCTGAAGATGACACGGATTCATTTTTCTCAAACAGCCCAAGAACCTTTATTTTCCAATAAGAGAATATAACAATTTCTGTACACTATGGAAGAGTTTGACTTGGTGAAAACCTTACACAAAACTTCATCTTCTGTAGGATCTGATGAAAATTCTCTTCATTCTCTTGGACTGAACTTAAATACTGATAG___AAGTAGTCCCCACCTTAGTACAAATGGGGTATCCTCTTTCTCAGGGAAGACCAGACCATCTGTAATTCAAGGTACAGTTGAAGTCCTAACTTCTTTAATGCAAGAGCTACAAAACAGTGGAAAGACTGATTCGGAACTTTGGAAAAACTGTGAG___ACCAGGTGGTTACAGCTATTCAATTTGGTGGAAAAACAATGCCAAGAACAGATAGTTGCCCAGCAGGAGCAGTTCCACAACCAAATTCAA___CATATACAGGAGGAGATAAAAAATTTAGTCAAATTACAGACTAGTAGTGCTTCCTTAGCTTCCTGTGAAGGAAATTCTTCAAACAAACAAGTATCTTCGGAAAGTCAAATGGGTTTTTTTTCTCTAAGCAGTGAGAGAAATGAATCTGTTATCCATTATCCTGAATCCACAGAACCTGAAATACAGCAAGAAATGTCCACGTCACAACCAGACTGCAATGTGGATAGTTGCTCAGTAAGCAGTGGATATGGCACCTTTTGTATCTCAGAATTAAATCTGTACAAATCTAAAGACCCTAAGGAGTTCATGGAGCACATAGATGTTCCCAAAGGACAGTATGTAGCACCTGCGGTGCCGGCTGAGTCACTTGTAGATGGTGTGAAAAATGAGAATTTTTATATACAGACTCCTGAAGAGTGTCATGTGTCTTTAAAGGAAGATGTATCCATTTCTCCTGGTGAATTTGAACATAATTTTCTTGGTGAAAATAAGGTTTCTGAAGTATACAGTGGGAAAACAAATAG___TAATGCTATAACATCATGGGCACAAAAACTGAAGCAGAACCAACCAAAGAGAGCACATGTAGAAGATGGAGGTTCAAGATCTAAACAAGGAAATGAGCAAAGTAAGAAGACACCAATTGAGAAA___TCTGATTTTGCTGCTGCTACACATCCTCGTGCTTTTTACCTCAGTAAACCAGATGAAACTCCAAATGCTTGGATGTCTGATTCAGGAACAG___GATTGACTTACTGGAAACTAGAGGAAAAGGATATGCACCACTCTTTGCCTGAAACTTTAGAGAAGACGTTCATATCATTGTCTTCCACAGATGTGTCACCAAACCAG___TCTAATACTAGTAATGAGATGAAGCTACCGTCACTGAAGGATATTTATTATAAAAAACAAAGGGAAAACAAGCAGTTACCTGAGAGGAATCTCACTTCTGCTTCCAACCCAAATCATCCACCAGAG___GTCCTGACTCTAGATCCTACGTTACACATGAAGCCAAAGCAGCAGATTTCAGGGATTCAACCTCACGGCCTTCCGAATGCCCTTGATGACAGAATATCCTTTTCCCCGGACTCTGTTCTAGAGCCTAGTATGTCTAGTCCCTCTGACATAGACTCATTTTCACAAGCAAGTAATGTCACTTCTCAGTTACCTGGATTTCCAAAATATCCCTCACACACAAAAGCTTCTCCGGTGGACTCTTGGAAAAATCAGACATTCCAAAACGAAAGTAGGACCAGTTCCACGTTTCCGTCAGTATATACCATTACTAGTAATGATATCTCGGTCAACACTGTAGATGAAGAAAACACTGTCATGGTTGCTTCGGCCTCAGTCAGTCAGTCCCAGCTTCCAGGTACAGCCAACAGTGTCCCAGAATGCATTTCATTGACTTCCTTGGAAGATCCTGTGATATTGTCTAA___GATTAGGCAGAATCTGAAGGAAAAGCATGCTCGACACATAGCAGATCTTCGAGCTTATTATGAATCAGAAATAAATAGTTTGAAACAGAAGCTGGAGGCAAAAGAAATCTCTGGAGTTGAAGATTGGAAGATAACCAATCAAATTCTTGTAGACAG___ATGTGGCCAATTAGATAGTGCTTTGCATGAAGCTACTAGTCGCGTGAGAACACTTGAAAATAAGAATAACTTACTGGAAATTGAAGTG___AATGATTTGAGAGAACGCTTCAGTGCAGCCAGCAGTGCTTCCAAAATTTTGCAGGAACGAATTGAAGAAATGAGAACAAGCAGTAAAGAAAAAGACAATACCATCATTCGACTAAAATCTAGACTGCAAGATTTAGAAGAAGCATTTGAGAATGCTTACAAACTCTCAGATGATAAAGAAGCTCAACTAAAACAAGAGAACAAAATGTTTCAAGAT___CTTTTAGGAGAGTATGAGTCCCTTGGAAAAGAACACAGGAGAGTAAAG___GATGCATTAAATACAACTGAGAACAAATTGCTTGATGCATATACTCAGATTTCTGATTTGAAAAG___AATGATTTCAAAACTTGAAGCTCAGGTCAAGCAAGTAGAACATGAAAATATGTTAAGCCTTCGTCATAATTCTAGAATTCACGTGAGACCCTCGCGTGCCAA___CACACTAGCAACTTCAGACGTCAGCAGGCGGAAATGGCTGATTCCAGGTGCAGAGTATTCCATCTTTACTGGCCAGCCTCTGGACACCCAGGACAGTAACGTGGATAACCAGCTGGAGGAAACCTGTAGCCTAGG___GCACCGTTCACCTCTGGAAAAGGATTCTTCACCTGGAAGTTCATCAACAAGCTTGTTGATAAAAAAGCAAAGAGAGACTTCAGACACGCCGATCATGAGAGCTTTAAAAGAACTTGATGAGGGAAAAATATTTAAAAATTGGGGGACACAGACAGAGAAAGAGGACACCTCAAATA___TAAATCCTCGGCAAACTGAAACTTCAGTTAATGCAAGTCGTTCTCCAGAAAAGTGTGCCCAACAGAGACAAAAGAGACTTAATTCGGCCTCACAGAGATCATCATCTTTACCACCTTCAAATCGTAAATCAAGTACTCCAA___CAAAAAGAGAGATTATGCTAACACCAGTGACTGTGGCTTATAGTCCAAAGCGATCCCCTAAAGAAAACTTGTCCCCAGGATTTAGTCATCTGCTTAGCAAAAATGAGAGCAGTCCAATTCG___ATTTGATATACTTTTGGATGATTTAGATACTGTTCCTGTGTCTACATTACAACGTACCAATCCAAGAAAGCAACTCCAGTTTCTTCCTCTAGATGACTCGGAAG___AAAAAACTTATTCTGAGAAAGCCACCGATAACCATGTTAATCATAGCTCTTGCCCTGAACCGGTGCCAAATGGAGTGAAGAAAGTATCTGTGAGAACAGCCTGGGAGAAGAATAAATCAGTTAGCTACGAACAGTGTAAGCCGGTTTCAGTCACTCCACAGGGGAATGATTTTGAATATACAGCAAAAATTCGGACCCTAGCTGAAACAGAACGATTTTTTGATGAACTTACAAAAGAAAAGGACCAG___ATTGAGGCAGCACTAAGCAGGATGCCTTCTCCTGGAGGACGAATCACTTTACAGACAAGATTAAATCAG___GAAGCCTTGGAAGATCGTTTGGAAAGGATTAATCGAGAACTGGGTTCAGTTCGCATGACGCTAAAGAAATTCCATGTTTTGCGCACCTCTGCAAATCTTTGAGATTTGTAGCCATTAAATTTTGAGACATTTTTGTTTGCACTAATGTATAATTATGCAGTCAGAAAAGGCAAACTATTTTGTACTGTTTATAAGCCTTCAAACAGTAGTTTTACAATCATGCTATTCTTACACTTGCTATTTTATACTTCAAATGGCCACATATTTTCAAGATATTTTTGTTATGCTCAGGAATCTCTTGTATATTTTACTATTTAAAAAGCATTATTTTTAAATAGTATCTGTCTCCAATTTATATCAAGAATAAGGAAATATAAACAGAGGAAGCAGCTTGTTTCTAAACAAATAGTGTTATCCTTTTACAATTAACTGCACATCAATTTTATAGACTTGTTCTACATTGTAAATACAATTCAGTTTTTAAAAAATAAAGCTTAATAGCTTCCATAATGATAGACTAGTACATGCTGAATACATAAACAATTACAGTGTACCTTGGATTTCAGTTGTGTTGAGGTTTTTAAAAAATGATAATGCAATTCGTATTTGAAACGTGTCTTAGAGTGAATATCAGAATAGTAATAATGGACTCTTGGAAAGCTTTGAAAACTACATGAATATAACTCATTTTCTTTAAACTTTATTGTCTGTAAGAGAAAAAAGAGAGATTGTAATTCTCTAATTTTATCTTTTCTAAAAAAGTTAAACAATTGGAGAGCCCTCTCTGGAGGGCTCTCAGAGTAGCTCTCTGCCCATTGTTCTGAATTAACTTGTGTCCCACCCTGGACAATAAATGGACAGATAAACCCTTTGAAATACAAGCCACCACCCCGTGAGGGATTAAGAGGGCAGCCTGGTTTTCTTAGTGTGCATGGCTTCAGCTGTCCGTCATAGTTGTCATCTGGATATGTTCACCCCTTTCCACTCCTTCACCCTGGCCAAAAGGAAAATATTTCCACTGTAGGTGCTGTAAGAAC)ACTAGACTTTAGATCATCACAATCTACTGTATTTGTTAATGGACAGGGAGTGTGTCCGGATGGAGCCTGGTGCCTTCCCCTCGGCCTTGCAGAGGGCTCCAGCCCACTGCCTCTGTGGTAGCCGCTGGCTCTCAGAAGTAGCACGTGGGCAGGAGTCTCTCCTCTGATCCAG|TCTGGGCAACAGAGCGAGACTCCGTCTCCCCCAACCAAAAAAAAtAAAATAAAATAAAAGTGGTATGCATATATATGTATGCAGAAAAAACAGGAAAGAGG . 11BR028 ENSG00000136770.11 ENSG00000279631.1(1429),ENSG00000261671.1(1768) -/- ./- chr10:21904522 chr10:22256018 CDS/splice-site intergenic duplication 69 72 5 704 201 high out-of-frame . DnaJ_domain(100%)| . . ENSG00000136770.11 . ENST00000376980.8 . upstream downstream duplicates(15),mismatches(1) ^(ACTGTGCAGCCCAGGCGCCGGGCGCTGCCTCTACAGCTGTGTGTAGGCCTGGGGGCGAGGGTCTTCGGAACGTAGCGCTGGCTGCGGCCCCGCCCGCCTACCCACCCGCCCGTCCGGCAGCCGGCTCCCGCCGCCTCCGCGCTCTGTCTGGGGCCAGCCACCTGGCGGGCCGCTCCGGTGCGCCTGCCCGCGCTTTTCACTGACAGGCGCTGTTCCCCACAGCCAGCGCCGCCCGCCACGTCCCAGCTCTCGGCCAACGGAGCTGCGCGGCGGGTGACCTTTCCGAGCCCAGCGCGATGACGGCTCCTTGCTCCCAGCCGGCGCAGCTTCCTGGACGCCGCCAGCTCGGGCTGGTGCCGTTCCCGCCGCCGCCGCCGCGGACGCCGCTGCTGTGGCTGCTGCTGCTGCTGCTGGCCGCCGTGGCGCCGGCGCGCGGCTGGGAGAGCGGAGACCTGGAGTTGTTTGACTTAGTGGAGGAGGTGCAGCTCAACTTCTACCAGTTCCTCGGGGTGCAGCAG___GATGCATCATCTGCAGACATCAGAAAAGCATATCGTAAGCTTTCACTAACTTTACATCCAGACAAGAATAAAGATGAAAATGCAGAAACTCAGTTTAGACAA___TTGGTGGCCATTTATGAAGTTTTAAAGGATGATGAACGAAGGCAGAG___GTATGATGATATTCTGATCAATGGACTTCCAGATTGGCGACAGCCTGTATTCTACTACAGGCGGGTGAGAAAAATGAGCAATGCTGAGCTGGCATTACTCTTGTTCATTATTCTCACAGTGGGTCATTATGCTGTGGTTTGGTCAA)TCTACCTGGAAAAACAACTG___GATGAACTACTAAGTAGAAAAAAGAGAGAAAAGAAAAAAAAGACTGGCAGCAAGAGTGTGGATGTATCAAAACTCGGTGCTTCAGAAAAAAATGAAAG___ATTGCTGATGAAACCACAGTGGCATGATTTGCTTCCATGCAAACTGGGGATTTGGTTTTGCCTTACACTAAAAGCATTACCTCACCTCATCCAG___GATGCTGGGCAGTTTTATGCTAAATATAAAGAAACAAGATTGAAGGAAAAGGAAGATGCACTGACTAGAACTGAACTTGAAACACTTCAAA|GTCTTTACAATTACCTAAGGAATTGCCTGAGGCATTGAACATATTGCCGGATATTTAGCTGCAAACAAACAAAAATGTTTTCAAACAAGGATGTAGATGAAAAAGCTATACAATGATTTTAATACCACCTCCACTCCATCACCTCTACACCACCAGCACTGTCACACATACTCTCAGAATGTTTGGTATCATATACAACTCTCCTAAAGCAAGAGATAATGTCAAAAATTTAAAAAGAGAATGCTACTCCTACATTTCCAGGTAACATAAAGAGTTGTAACCCTTGAACTTCCTGTATATATTAATATTTGTTTTCAACACACTAATTGCCTTGGACCTCTATGAATTTTATGTATTTAATAAATTAATGCAAGTGTTCATCTTAATTTTAGATTTACATTTGTTATCTTTGAACTATATCAATTTCTCATAAAACAATTAAGAAACAG MTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVEEVQLNFYQFLGVQQDASSADIRKAYRKLSLTLHPDKNKDENAETQFRQLVAIYEVLKDDERRQRYDDILINGLPDWRQPVFYYRRVRKMSNAELALLLFIILTVGHYAVVWSIYLEKQLDELLSRKKREKKKKTGSKSVDVSKLGASEKNERLLMKPQWHDLLPCKLGIWFCLTLKALPHLIQDAGQFYAKYKETRLKEKEDALTRTELETLQ|slynylrnclrh* 11BR028 ENSG00000278845.5 ENSG00000167107.12 +/+ +/+ chr17:38318735 chr17:50472428 CDS/splice-site CDS/splice-site deletion 58 23 2 1900 341 high in-frame . |AMP-binding_enzyme(100%),AMP-binding_enzyme_C-terminal_domain(100%) . . ENSG00000278845.5 ENSG00000167107.12 ENST00000619548.1 ENST00000300441.8 downstream upstream duplicates(6),mismatches(1) ^(CACTCCCGCGAGCACGTGCGCGTCCTCGCTGCTCACATTTCGGCGGAGGGCGCGCTCCCTGGAAAATTCCACTCCTGTGCTAGCTCCACCCTATGCGGCTTTTCTCCTACCCGACGCTCTTCACTCTCAGCTCCCTTCCCGGCGGCCTTTGCGGGAACAAGATGGCAGCCCCCATACCTCAAGGGTTCTCTTGTTTATCGAGGTTTTTGGGCTGGTGGTCTCGGCAG___CCAGTTCTGGTGACTCAGTCCGCAGCTATAGTTCCAGTAAGAACTAAAAAACGTTTCACACCTCCTATTTATCAACCTAAA)TTTAAAACAGAAAAGGAGTTTATGCAACATGCCCGGAAAGCAGGATTGGTTATTCCTCCAGAAAAATCGGACCGTTCCATACATCTGGCCTGTACAG___CTGGTATATTTGATGCCTATGTTCCTCCTGAGGGTGATGCACGCATATCATCTCTTTCAAAGGAGGGACTGATAGAGAGAACTGAACGAATGAAGAAGACTATGGCATCACAAGTGTC___AATCCGGAGGATAAAAGACTATGATGCCAACTTTAAAATAAAGGACTTCCCTGAAAAAGCTAAGGATATCTTTATTGAAGCTCACCTTTGTCTAAATAA___CTCAGACCATGACCGGCTTCATACCTTGGTAACTGAACACTGTTTTCCA|GCCCGGATCATGAACATGGAGGCAGGGACGCTGGCAAAGCTGAACACGCCCGGGGAGCTGTGCATCCGAGGGTACTGCGTCATGCTGGGCTACTGGGGTGAGCCTCAGAAGACAGAGGAAGCAGTGGATCAGGACAAGTGGTATTGGACAGG___AGATGTCGCCACAATGAATGAGCAGGGCTTCTGCAAGATCGTGGGCCGCTCTAAGGATATGATCATCCGGGGTGGTGAGAACATCTACC(CCGCAGAGCTCGAGGACTTCTTTCACACACACCCGAAGGTGCAGGAAGTGCAG___GTGGTGGGAGTGAAGGACGATCGGATGGGGGAAGAGATTTGTGCCTGCATTCGGCTGAAGGACGGGGAGGAGACCACGGTGGAGGAGATAAAAGCTTTCTGCAAAGGGAAG___ATCTCTCACTTCAAGATTCCGAAGTACATCGTGTTTGTCACAAACTACCCCCTCACCATTTCAGGAAAG___ATCCAGAAATTCAAACTTCGAGAGCAGATGGAACGACATCTAAATCTGTGAATAAAGCAGCAGGCCTGTCCTGGCCGGTTGGCTTGACTCTCTCCTGTCAGAATGCAACCTGGCTTTATGCACCTAGATGTCCCCAGCACCCAGTTCTGAGCCAGGCACATCAAATGTCAAGGAATTGACTGAACGAACTAAGAGCTCCTGGATGGGTCCGGGAACTCGCCTGGGCACAAGGTGCCAAAAGGCAGGCAGCCTGCCCAGGCCCTCCCTCCTGTCCATCCCCCACATTCCCCTGTCTGTCCTTGTGATTTGGCATAAAGAGCTTCTGTTTTCTTTG)$ MAAPIPQGFSCLSRFLGWWSRQPVLVTQSAAIVPVRTKKRFTPPIYQPKFKTEKEFMQHARKAGLVIPPEKSDRSIHLACTAGIFDAYVPPEGDARISSLSKEGLIERTERMKKTMASQVSIRRIKDYDANFKIKDFPEKAKDIFIEAHLCLNNSDHDRLHTLVTEHCFP|ARIMNMEAGTLAKLNTPGELCIRGYCVMLGYWGEPQKTEEAVDQDKWYWTGDVATMNEQGFCKIVGRSKDMIIRGGENIYPAELEDFFHTHPKVQEVQVVGVKDDRMGEEICACIRLKDGEETTVEEIKAFCKGKISHFKIPKYIVFVTNYPLTISGKIQKFKLREQMERHLNL* 11BR028 ENSG00000141367.12 ENSG00000062716.13 +/+ +/+ chr17:59666977 chr17:59731421 CDS/splice-site 5'UTR/splice-site deletion/read-through 37 40 1 1336 1504 high in-frame . Clathrin-H-link(100%),Clathrin__heavy-chain_linker(100%),Clathrin_propeller_repeat(100%),Region_in_Clathrin_and_VPS(100%)| . . ENSG00000141367.12 ENSG00000062716.13 ENST00000621829.4 ENST00000262291.9 downstream upstream duplicates(4),low_entropy(1) ^(AGACTGGCGAAAGTGATGAGTCTAAAAAAGTAGTCCCTCCGGTTCCTCTGTTTCCCCCCATGTGGCGTCAGGAAGCGAGGCACCGGGCGCACTGCGCCCCGAATTCCTGCGCCCGCCGCGCGCGGCGCTCCGTGGAGGGGTACATAAGGCGGAGGGGGTGAGGCGACTGGGCGGAGTTCTGTCGCCGGGATCCTTCCGCTGGGCTCAGCCGTTTCCGGAGTCTGCGCTGCGCCCGGTTCCGCCATTGCGGCTCTCCTGGCCCCTGGAGCCTCCGCCCCCGACCCGAGCTCTTTCGTCTGCCTGCCAGTTTCCTGCGTCCCCGGAGAGGATCCTGCTGAGCCCAGCCTCCCCCCTCCCCTTCTCCTCCTCTCCCTTGGAGAGCCCGGGCAGCCACTGCCCCGCAGCCCCAGTGACAGGAGGAGACCATAACCCCCGACAGCGCCATGGCCCAGATTCTGCCAATTCGTTTTCAGGAGCATCTCCAG___CTCCAGAACCTGGGTATCAACCCAGCAAACATTGGCTTCAGTACCCTGACTATGGAGTCTGACAAATTCATCTGCATTAGAGAAAAAGTAGGAGAGCAGGCCCAGGTGGTAATCATTGATATGAATGACCCAAGTAATCCAATTCGAAGACCAATTTCAGCAGACAGCGCCATCATGAATCCAGCTAGCAAAGTAATTGCACTGAAAGGTATAAAAGAAT___CTGGGAAAACTCTTCAGATTTTTAACATTGAAATGAAAAGTAAAATGAAGGCTCATACCATGACTGATGATGTCACCTTTTGGAAATGGATCTCTTTGAATACGGTTGCTCTTGTTACGGATAATGCAGTTTATCACTGGAGTATGGAAGGAGAGTCTCAGCCAGTGAAAATGTTTGATCGCCATTCTAGCCTTGCAGGGTGCCAGATTATCAATTACCGTACAGATGCAAAACAAAAGTGGTTACTTCTGACTGGTATATCTGCACAG___CAAAATCGTGTGGTGGGAGCTATGCAGCTATATTCTGTAGATAGGAAAGTGTCTCAGCCCATTGAAGGACATGCAGCTAGCTTTGCACAGTTTAAGATGGAAGGAAATGCAGAAGAATCAACGTTATTTTGTTTTGCAGTTCGGGGCCAAGCTGGAGGGAAG___TTACATATTATTGAAGTTGGCACACCACCTACAGGGAACCAGCCCTTTCCAAAGAAGGCAGTGGATGTCTTCTTTCCTCCAGAAGCACAAAATGATTTTCCTGTTGCAATGCAG___ATCAGTGAAAAGCATGATGTGGTGTTCTTGATAACCAAGTATGGTTATATCCACCTCTATGATCTTGAGACTGGTACCTGCATCTACATGAATAGAATCAGTGGAGAAACAATTTTTGTTACTGCACCTCATGAAGCCACAGCTGGAATAATTGGAGTAAACAGAAAGGGACAA___GTTCTGTCAGTGTGTGTGGAAGAAGAAAACATAATTCCTTACATCACCAATGTTCTACAAAATCCTGATTTGGCTCTGAGAATGGCTGTACGTAATAACTTAGCCGGTGCTGAAGAACTCTTTGCCCGGAAATTTAATGCTCTTTTTGCCCAGGGAAATTACTCGGAGGCAGCAAAGGTGGCTGCTAATGCACCAAAG___GGAATTCTTCGTACTCCAGACACTATCCGTCGGTTCCAGAGTGTCCCAGCCCAGCCAGGTCAAACTTCTCCTCTACTTCAGTACTTTGGTATCCTTTTGGACCAGGGACAGCTCAACAAATACGAATCCTTAGAGCTTTGTAGGCCTGTACTTCAGCAAGGGCGAAAACAGCTTTTGGAGAAATGGTTAAAAGAAGATAAG___CTGGAATGTTCTGAAGAACTGGGTGATCTTGTGAAATCTGTGGACCCTACATTGGCACTTAGTGTGTACCTAAGGGCTAACGTCCCAAATAAAGTCATTCAGTGCTTTGCAGAAACAGGTCAAGTCCAAAAGATTGTTTTATATGCTAAAAAA___GTTGGATACACTCCAGATTGGATATTTCTGCTGAGAAATGTAATGCGAATCAGTCCAGATCAGGGACAGCAGTTTGCCCAAATGTTAGTTCAAGATGAAGAGCCTCTTGCTGACATCACACAG___ATTGTAGATGTCTTTATGGAATACAATCTAATTCAGCAGTGTACTGCATTCTTGCTTGATGCTCTGAAGAATAATCGCCCATCTGAAGGTCCTTTACAGACGCGGTTACTTGAGATGAACCTTATGCATGCGCCTCAA___GTTGCAGATGCTATTCTAGGCAATCAGATGTTCA)CACATTATGACCGGGCTCATATTGCTCAACTGTGTGAAAAGGCTGGCCTACTGCAGCGTGCATTAGAACATTTCACTGATTTATATGATATAAAACGTGCAGTGGTTCACACCCATCTTCTTAACCCTGAG___TGGTTAGTCAACTACTTTGGTTCCTTATCAGTAGAAGACTCCCTAGAATGTCTCAGAGCCATGCTGTCTGCCAACATCCGTCAGAATCTGCAGATTTGTGTTCAGGTGGCTTCTAAATATCATGAACAACTGTCAACTCAGTCTCTGATTGAACTTTTTGAATCTTTCAAGAGTTTTGAAG|CTCCTCAAGAGTTACTGATCTATGAAATGGCAGAGAATGGAAAAAATTGTGACCAGAGACGTGTAGCAATGAACAAGGAACATCATAATGGAAATTTCACAG___ACCCCTCTTCAGTGAATGAAAAGAAGAGGAGGGAGCGGGAAGAAAGGCAGAATATTGTCCTGTGGAGACAGCCGCTCATTACCTTGCAGTATTTTTCTCTGGAAATCCTTGTAATCTTGAAGGAATGGAC(CTCAAA___ATTATGGCATCGTCAAAGCATTGTGGTGTCTTTTTTACTGCTGCTTGCTGTGCTTATAGCTACGTATTATGTTGAAGGAGTGCATCAACAG___TATGTGCAACGTATAGAGAAACAGTTTCTTTTGTATGCCTACTGGATAGGCTTAGGAATTTTGTCTTCTGTTGGGCTTGGAACAGGGCTGCACACCTTTCTGCTTTATCTG___GGTCCACATATAGCCTCAGTTACATTAGCTGCTTATGAATGCAATTCAGTTAATTTTCCCGAACCACCCTATCCTGATCAGATTATTTGTCCAGATGAAGAGGGCACTGAAGGAACCATTTCTTTGTGGAGTATCATCTCAAAAGTTAGGATTGAAGCCTGCATGTGG___GGTATCGGTACAGCAATCGGAGAGCTGCCTCCATATTTCATGGCCAGAGCAGCTCGCCTCTCAGGTGCTGAACCAGATGATGAAGAGTATCAGGAATTTGAAGAGATGCTGGAACATGCAGAGTCTGCACAA___GACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCA___ATTCCAAATCCTTTATTTGATCTGGCTGGAATAACGTGTGGACACTTTCTGGTACCTTTTTGGACCTTCTTTGGTGCAACCCTAATTGGAAAAGCAATAATAAAAATGCATATCCAG___AAAATTTTTGTTATAATAACATTCAGCAAGCACATAGTGGAGCAAATGGTGGCTTTCATTGG___TGCTGTCCCCGGCATAGGTCCATCTCTGCAGAAGCCATTTCAGGAGTACCTGGAGGCTCAACGGCAGAAGCTTCACCACAAAAGCGAAATGGGCACACCACAG___GGAGAAAACTGGTTGTCCTGGATGTTTGAAAAGTTGGTCGTTGTCATGGTGTGTTACTTCATCCTATCTATCATTAACTCCATGGCACAAAGTTATGCCAAACGAATCCAGCAGCGGTTGAACTCAGAGGAGAAAACTAAATAAGTAGAGAAAGTTTTAAACTGCAGAAATTGGAGTGGATGGGTTCTGCCTTAAATTGGGAGGACTCCAAGCCGGGAAGGAAAATTCCCTTTTCCAACCTGTATCAATTTTTACAACTTTTTTCCTGAAAGCAGTTTAGTCCATACTTTGCACTGACATACTTTTTCCTTCTGTGCTAAGGTAAGGTATCCACCCTCGATGCAATCCACCTTGTGTTTTCTTAGGGTGGAATGTGATGTTCAGCAGCAAACTTGCAACAGACTGGCCTTCTGTTTGTTACTTTCAAAAGGCCCACATGATACAATTAGAGAATTCCCACCGCACAAAAAAAGTTCCTAAGTATGTTAAATATGTCAAGCTTTTTAGGCTTGTCACAAATGATTGCTTTGTTTTCCTAAGTCATCAAAATGTATATAAATTATCTAGATTGGATAACAGTCTTGCATGTTTATCATGTTACAATTTAATATTCCATCCTGCCCAACCCTTCCTCTCCCATCCTCAAAAAAGGGCCATTTTATGATGCATTGCACACCCTCTGGGGAAATTGATCTTTAAATTTTGAGACAGTATAAGGAAAATCTGGTTGGTGTCTTACAAGTGAGCTGACACCATTTTTTATTCTGTGTATTTAGAATGAAGTCTTGAAAAAAACTTTATAAAGACATCTTTAATCATTCCAAAATTGTGTCCGTTTTCTTGAGCGTTTTGATTTTTTACTTTTAGCTTATACCAGCTGAATGGCAGCCTTGCCTAATCCACCTACAACAAGAATTTCTTAAGCTTTCTTTTATTTGCATGAGAGAGCCACTACCAAGGCATGTTTTGTTATGCTGAAACTGGGCTGCTGCATACTGCTAAATGGCACCTCTGGGATTGGCCTACCTGGGGATTTCTTGGTTTGTGAAAACAGGAGAGGAGAAATATCTCATACAAGTGAAAGGATACTGGAGAGAGAAATTACCCATTTCTAAAAAAAAACCACACTCTGTCGTATCTGTGTTAATGTTTTCTAGCATGTACTCTGGTTTCAACAGACACAAATTTATATGTTAACCCAGTTTTCTTGCCGTTCTGTAAGTGTTTTATTCTTAGTGTGATTTTTTTCCATTGGGATGTTTTTGATTGAACTTGTTCATTTTGTTTTGCTTGGGAGGAAAATAAACAATTTTACTTTTTTCCTTTAGGAGCATTATGAGCATTATGTCAGAATAGAATAGAATTGGGGTTCGATCTTAACAGGCCAGAAATGCCTGGGTTTTTTTGGTTTGTTTTTGTTTTTGTTTTTTTATCAAATCCTGCCTGACTGTCTGCTTGTTTTGCCTACCATCGTGACATCTCCATGGCTGTACCACCTTGTCGGGTAGCTTATCAGACTGATGTTGACTGTTGAATCTCATGGCAACACCAGTCGATGGGCTGTCTGACATTTTGGTATCTTTCATCTGACCATCCATATCCAATGTTCTCATTTAAACATTACCCAGCATCATTGTTTATAATCAGAAACTCTGGTCCTTCTGTCTGGTGGCACTTAGAGTCTTTTGTGCCATAATGCAGCAGTATGGAGGGAGGATTTTATGGAGAAATGGGGATAGTCTTCATGACCACAAATAAATAAAGGAAAACTAAGCTGCATTGTGGGTTTTGAAAAGGTTATTATACTTCTTAACAATTCTTTTTTTCAGGGACTTTTCTAGCTGTATGACTGTTACTTGACCTTCTTTGAAAAGCATTCCCAAAATGCTCTATTTTAGATAGATTAACATTAACCAACATAATTTTTTTTAGATCGAGTCAGCATAAATTTCTAAGTCAGCCTCTAGTCGTGGTTCATCTCTTTCACCTGCATTTTATTTGGTGTTTGTCTGAAGAAAGGAAAGAGGAAAGCAAATACGAATTGTACTATTTGTACCAAATCTTTGGGATTCATTGGCAAATAATTTCAGTGTGGTGTATTATTAAATAGAAAAAAAAAATTTTGTTTCCTAGGTTGAAGGTCTAATTGATACGTTTGACTTATGATGACCATTTATGCACTTTCAAATGAATTTGCTTTCAAAATAAATGAAGAGCAGCTGTCCTTCTTTCCTCTTTTAAGTGTTCAGCTGTGGCATGCTCAGAGGTTCCTGCTGGATTCCAGCTGGAGCGGTGTGATACCCTTCTTTTTCAGCTGTTCGTGCCTTCCTTTCTTGTATCCACCAAAGTGGAGACAAATACATGATCTCAAAGATACACAGTACCTACTTAATTCCAGCTGATGGGAGACCAAAGAATTTGCAAGTGGATGGTTTGGTATCACTGTAAATAAAAAGAGGGCCTGGGAATTCTTGCGATTCCATCTCTA)$ MAQILPIRFQEHLQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVVIIDMNDPSNPIRRPISADSAIMNPASKVIALKGIKESGKTLQIFNIEMKSKMKAHTMTDDVTFWKWISLNTVALVTDNAVYHWSMEGESQPVKMFDRHSSLAGCQIINYRTDAKQKWLLLTGISAQQNRVVGAMQLYSVDRKVSQPIEGHAASFAQFKMEGNAEESTLFCFAVRGQAGGKLHIIEVGTPPTGNQPFPKKAVDVFFPPEAQNDFPVAMQISEKHDVVFLITKYGYIHLYDLETGTCIYMNRISGETIFVTAPHEATAGIIGVNRKGQVLSVCVEEENIIPYITNVLQNPDLALRMAVRNNLAGAEELFARKFNALFAQGNYSEAAKVAANAPKGILRTPDTIRRFQSVPAQPGQTSPLLQYFGILLDQGQLNKYESLELCRPVLQQGRKQLLEKWLKEDKLECSEELGDLVKSVDPTLALSVYLRANVPNKVIQCFAETGQVQKIVLYAKKVGYTPDWIFLLRNVMRISPDQGQQFAQMLVQDEEPLADITQIVDVFMEYNLIQQCTAFLLDALKNNRPSEGPLQTRLLEMNLMHAPQVADAILGNQMFTHYDRAHIAQLCEKAGLLQRALEHFTDLYDIKRAVVHTHLLNPEWLVNYFGSLSVEDSLECLRAMLSANIRQNLQICVQVASKYHEQLSTQSLIELFESFKSFE|apqelliyeMAENGKNCDQRRVAMNKEHHNGNFTDPSSVNEKKRREREERQNIVLWRQPLITLQYFSLEILVILKEWTSKLWHRQSIVVSFLLLLAVLIATYYVEGVHQQYVQRIEKQFLLYAYWIGLGILSSVGLGTGLHTFLLYLGPHIASVTLAAYECNSVNFPEPPYPDQIICPDEEGTEGTISLWSIISKVRIEACMWGIGTAIGELPPYFMARAARLSGAEPDDEEYQEFEEMLEHAESAQDFASRAKLAVQKLVQKVGFFGILACASIPNPLFDLAGITCGHFLVPFWTFFGATLIGKAIIKMHIQKIFVIITFSKHIVEQMVAFIGAVPGIGPSLQKPFQEYLEAQRQKLHHKSEMGTPQGENWLSWMFEKLVVVMVCYFILSIINSMAQSYAKRIQQRLNSEEKTK* 11BR028 ENSG00000161381.14 ENSG00000167258.15 -/+ +/+ chr17:39114749 chr17:39490557 intron CDS/splice-site deletion/read-through/3'-3' 5 29 0 112 109 high . . |Protein_kinase_domain(100%) . . ENSG00000161381.14 ENSG00000167258.15 . ENST00000447079.6 downstream upstream duplicates(2),mismatches(3) CAGGGCCTTGAGAGGGAGCGTGGCCCTGCTGACACCTTAATTTCAGACTTCTGGCCTCCAGAACTGCAA___GTACCACTACATATTCTGAAGTCCAGGATAGGATCATTTTACCAAACAAAGCAGGACAGCTGCAGATGCTAAACAGGTGCTCTCAG|TCCAAAAGAAACTCTTCCTTCAAAACCTGTGAAGAAAGAGAAGGAACAGAGGACACGTCACTTACTCACAGACCTTCCTCTCCCTCCAGAGCTCCCTGGTGGAGATCTGTCTCCCCCAGACTCTCCAGAACCAAAGGCAATCACACCACCTCAGCAACCATATAAAAAGAGACCAAA___AATTTGTTGTCCTCGTTATGGAGAAAGAAGACAAACAGAAAGCGACTGGGGGAAACGCTGTGTGGACAAGTTTGACATTATTGGGATTATTGGAGAAGGAACCTATGGCCAAGTATATAAAGCCAAGGACAAAGACACAG(___GAGAACTAGTGGCTCTGAAGAAGGTGAGACTAGACAATGAGAAAGAGGGCTTCCCAATCACAGCCATTCGTGAAATCAAAATCCTTCGTCAGTTAATCCACCGAAGTGTTGTTAACATGAAGGAAATTGTCACAGATAAACAAGATGCACTGGATTTCAAGAAGGACAAAG___GTGCCTTTTACCTTGTATTTGAGTATATGGACCATGACTTAATGGGACTGCTAGAATCTGGTTTGGTGCACTTTTCTGAGGACCATATCAAGTCGTTCATGAAACAGCTAATGGAAGGATTGGAATACTGTCACAAAAAGAATTTCCTGCATCGGGATATTAAGTGTTCTAACATTTTGCTGAATAACAG___TGGGCAAATCAAACTAGCAGATTTTGGACTTGCTCGGCTCTATAACTCTGAAGAGAG___TCGCCCTTACACAAACAAAGTCATTACTTTGTGGTACCGACCTCCAGAACTACTGCTAGGAGAGGAACGTTACACACCAGCCATAGATGTTTGGAGCTGTGG___ATGTATTCTTGGGGAACTATTCACAAAGAAGCCTATTTTTCAAGCCAATCTGGAACTGGCTCAGCTAGAACTGATCAG___CCGACTTTGTGGTAGCCCTTGTCCAGCTGTGTGGCCTGATGTTATCAAACTGCCCTACTTCAACACCATGAAACCGAAGAAGCAATATCGAAGGCGTCTACGAGAAGAATTCTCTTT___CATTCCTTCTGCAGCACTTGATTTATTGGACCACATGCTGACACTAGATCCTAGTAAGCGGTGCACAGCTGAACAGACCCTACAGAGCGACTTCCTTAAAGATGTCGAACTCAGCAAAATGGCTCCTCCAGA___CCTCCCCCACTGGCAGGATTGCCATGAGTTGTGGAGTAAGAAACGGCGACGTCAGCGACAAAGTGGTGTTGTAGTCGAAGAGCCACCTCCATCCAAAACTTCTCGAAAAGAAACTACCTCAGGGACAAGTACTGAGCCTGTGAAGAACAGCAGCCCAGCACCACCTCAGCCTGCTCCTGGCAAGGTGGAGTCTGGGGCTGGGGATGCAATAG___GCCTTGCTGACATCACACAACAGCTGAATCAAAGTGAATTGGCAGTGTTATTAAACCTGCTGCAGAGCCAAACCGACCTGAGCATCCCTCAAATGGCACAGCTGCTTAACATCCACTCCAACCCAGAGATGCAGCAGCAGCTGGAAGCCCTGAACCAATCCATCAGTGCCCTGACGGAAGCTACTTCCCAGCAGCAGGACTCAGAGACCATGGCCCCAGAGGAGTCTTTGAAGGAAGCACCCTCTGCCCCAGTGATCCTGCCTTCAGCAGAACAGACGACCCTTGAAGCTTCAAGCACACCAGCTGACATGCAGAATATATTGGCAGTTCTCTTGAGTCAGCTGATGAAAACCCAAGAGCCAGCAGGCAGTCTGGAGGAAAACAACAGTGACAAGAACAGTGGGCCACAGGGGCCCCGAAGAACTCCCACAATGCCACAGGAGGAGGCAGCAG___CATGTCCTCCTCACATTCTTCCACCAGAGAAGAGGCCCCCTGAGCCCCCCGGACCTCCACCGCCGCCACCTCCACCCCCTCTGGTTGAAGGCGATCTTTCCAGCGCCCCCCAGGAGTTGAACCCAGCCGTGACAGCCGCCTTGCTGCAACTTTTATCCCAGCCTGAAGCAGAGCCTCCTGGCCACCTGCCACATGAGCACCAGGCCTTGAGACCAATGGAGTACTCCACCCGACCCCGTCCAAACAGGACTTATGGAAACACTGATGGGCCTGAAACAGGGTTCAGTGCCATTGACACTGATGAACGAAACTCTGGTCCAGCCTTGACAGAATCCTTGGTCCAGACCCTGGTGAAGAACAGGACCTTCTCAGGCTCTCTGAGCCACCTTGGGGAGTCCAGCAGTTACCAGGGCACAGGGTCAGTGCAGTTTCCAGGGGACCAGGACCTCCGTTTTGCCAGGGTCCCCTTAGCGTTACACCCGGTGGTCGGGCAACCATTCCTGAAGGCTGAGGGAAGCAGCAATTCTGTGGTACATGCAGAGACCAAATTGCAAAACTATGGGGAGCTGGGGCCAGGAACCACTGGGGCCAGCAGCTCAGGAGCAGGCCTTCACTGGGGGGGCCCAACTCAGTCTTCTGCTTATGGAAAACTCTATCGGGGGCCTACAAGAGTCCCACCAAGAGGGGGAAGAGGGAGAGGAGTTCCTTACTAACCCAGAGACTTCAGTGTCCTGAAAGATTCCTTTCCTATCCATCCTTCCATCCAGTTCTCTGAATCTTTAATGAAATCATTTGCCAGAGCGAGGTAATCATCTGCATTTGGCTACTGCAAAGCTGTCCGTTGTATTCCTTGCTCACTTGCTACTAGCAGGCGACTTACGAAATAATGATGTTGGCACCAGTTCCCCCTGGATGGGCTATAGCCAGAACATTTACTTCAACTCTACCTTAGTAGATACAAGTAGAGAATATGGAGAGGATCATTACATTGAAAAGTAAATGTTTTATTAGTTCATTGCCTGCACTTACTGATCGGAAGAGAGAAAGAACAGTTTCAGTATTGAGATGGCTCAGGAGAGGCTCTTTGATTTTTAAAGTTTTGGGGTGGGGGATTGTGTGTGGTTTCTTTCTTTTGAATTTTAATTTAGGTGTTTTGGGTTTTTTTCCTTTAAAGAGAATAGTGTTCACAAAATTTGAGCTGCTCTTTGGCTTTTGCTATAAGGGAAACAGAGTGGCCTGGCTGATTTGAATAAATGTTTCTTTCCTCTCCACCATCTCACATTTTGCTTTTAAGTGAACACTTTTTCCCCATTGAGCATCTTGAACATACTTTTTTTCCAAATAAATTACTCATCCTTAAAGTTTACTCCACTTTGACAAAAGATACGCCCTTCTCCCTGCACATAAAGCAGGTTGTAGAACGTGGCATTCTTGGGCAAGTAGGTAGACTTTACCCAGTCTCTTTCCTTTTTTGCTGATGTGTGCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCGCTTGCTCGCTCTCGCTGTTTCTCTCTCTTTGAGGCATTTGTTTGGAAAAAATCGTTGAGATGCCCAAGAACCTGGGATAATTCTTTACTTTTTTTGAAATAAAGGAAAGGAAATTCAGACTCTTACATTGTTCTCTGTAACTCTTCAATTCTAAAATGTTTTGTTTTTTAAACCATGTTCTGATGGGGAAGTTGATTTGTAAGTGTGGACAGCTTGGACATTGCTGCTGAGCTGTGGTTAGAGATGATGCCTCCATTCCTAGAGGGCTAATAACAGCATTTAGCATATTGTTTACACATATATTTTTATGTCAAAAAAAAAACAAAAACCTTTCAAACAGAGCATTGTGATATTGTCAAAGAGAAAAACAAATCCTGAAGATACATGGAAATGTAACCTAGTTTAGGGTGGGTATTTTTCTGAAGATACATCAATACCTGACCTTTTTTAAAAAAATAATTTTAAAACAGCATACTGTGAGGAAGAACAGTATTGACATACCCACATCCCAGCATGTGTACCCTGCCAGTTCTTTTAGGGATTTTTCCTCCAAAGAGATTTGGATTTGGTTTTGGTAAAAGGGGTTAAATTGTGCTTCCAGGCAAGAACTTTGCCTTATCATAAACAGGAAATGAAAAAGGGAAGGGCTGTCAGGATGGGATAATTTGGGAGGCTTCTCATTCTGGCTTCTATTTCTATGTGAGTACCAGCATATAGAGTGTTTTAAAAACAGATACATGTCATATAATTTATCTGCACAGACTTAGACCTTCAGGAAACATAGGTTAAGCCCCCTTTTACAAAGAAAAAGTAAACATACTTCAGCATCTTGGAGGGTAGTTTTCAAAACTCAAGTTTCATGTTTCAATGCCAAGTTCTTATTTTAAAAAATAAAATCTACTTATAAGAGAAAGGTGCATTACTTAAAAAAAAAAAACTTTAAAGAAATGAAAGAAGAACCCTCTTCAGATACTTACTTGAAGACTGTTTTCCCCTGTTAATGAGATATAGCTAGATATCGGTGTGTGTATTTCTTTATTATTCTCTGGTTTTTGATCTGGCCTTGCCTCCAGGGCCAAACACTGATTTAGAAAGAGAGCCTTCTAGCTATTTTGGCATTGATGGCTTTTTATACCAGTGTGTCCAGTTAGATTTACTAGGCTTACTGACATGCTATTGGTAAATCGCATTAAAGTTCATCTGAACCTTCTGTCTGTTGACTTCTTAGTCCTCAGACATGGGCCTTTGTGTTTTAGAATATTTGAATTTGAGTTATTGGGCCCCACTCCCTGTTTTTTATTAAAGAACGTGAGCCTGGGATACTTTCAGAAGTATCTGTTCAATGAAAAAAAGTTGGTTTCCCATCAAATATGAATAAAATTCTCTATATATTTCATTGTATTTTGGTTATCAGCAGTCATCAATAATGTTTTTCCCTCCCCTCTCCCACCTCTTATTTTTAATTATGCCAAATATCCTAAATAATATACTTAAGCCTCCATTCCCTCATCCCTACTAGGGAAGGGGGTGAGTGTATGTGTGAGTGTATGTGTATGTATGATCCCATCTCACCCCCACCCCCATTTTGGGAGTCTTTTAAAATGAAAACAAAGTTTGGTAGTTTTGACTATTTCTAAAAGCAGAGGAGAAAAAAAAACTTATTTAAATATCCTGGAATCTGTATGGAGGAAGAAAAGGTATTTGTTAATTTTTCAGTTACGTTATCTATAAACATGATGGAAGTAAAGGTTTGGCAGAATTTCACCTTGACTATTTGAAAATTACAGACCCAATTAATTCCATTCAAAAGTGGTTTTCGTTTTGTTTTAATTATTGTACAATGAGAGATATTGTCTATTAAATACATTATTTTGAACAGATGAGAAATCTGATTCTGTTCATGAGTGGGAGGCAAAACTGGTTTGACCGTGATCATTTTTGTGGTTTTGAAAACAAATATACTTGACCCAGTTTCCTTAGTTTTTTCTTCAACTGTCCATAGGAACGATAAGTATTTGAAAGCAACATCAAATCTATACGTTTAAAGCAGGGCAGTTAGCACAAATTTGCAAGTAGAACTTCTATTAGCTTATGCCATAGACATCACCCAACCACTTGTATGTGTGTGTGTATATATAATATGCATATATAGTTACCGTGCTAAAATGGTTACCAGCAGGTTTTGAGAGAGAATGCTGCATCAGAAAAGTGTCAGTTGCCACCTCATTCTCCCTGATTTAGGTTCCTGACACTGATTCCTTTCTCTCTCGTTTTTGACCCCCATTGGGTGTATCTTGTCTATGTACAGATATTTTGTAATATATTAAATTTTTTTCTTTCAGTTTATAAAAATGGAAAGTGGAGATTGGAAAATTAAATATTTCCTGTTACTATA)$ . 11BR028 ENSG00000121067.19 ENSG00000161405.17 -/- -/- chr17:49677933 chr17:39832151 5'UTR/splice-site CDS/splice-site deletion 9 13 0 75 95 high . . |C2H2-type_zinc_finger(100%),Zinc_finger__C2H2_type(100%) . . ENSG00000121067.19 ENSG00000161405.17 ENST00000347630.6 ENST00000346872.8 upstream downstream duplicates(1) ^(GGGGAGGAGGCCGCGCGGGGTGGGGTCTGGCGGTACGCGCTGGCTGCGTCGACGTGCTGACGCCATGACGCCCCGGCTGGT)GTGTGTCGGTGTGTATGTGTGTGTGTGAGTGTGCGCGCTCCGAGTGTGTGTGTATTTGTGTATCGGCGGTCCCGCAGGTCCCGGATGTTGCGGACAGTATGAGGCAAGCGCAGGGGGACGGGGACCAGCAGCTGTCGCCGCCGCTCTCAG|ATATACAAACAAATGCGGAACTGAAAAGCACTCAGGAGCAGTCTGTGCCCGCAG___AAAGTGCAGCGGTTTTGAATGACTACAGTTTAACCAAATCTCATGAAATGGAAAATGTGGACAGTGGAGAAGGCCCAGCCAATGAAGATGAAGACATAGGAG___ATGATTCAATGAAAGTGAAAGATGAATACAGTGAAAGAGATGAG(AATGTTTTAAAGTCAGAACCCATGGGAAATGCAGAAGAGCCTGAAATCCCTTACAGCTATTCAAGAGAATATAATGAATATGAAAACATTAAGTTGGAGAGACATGTTGTCTCATTCGATAGTAGCAGGCCAACCAGTGGAAAGATGAACTGCGATGTGTGTGGATTATCCTGCATCAGCTTCAATGTCTTAATGGTTCATAAGCGAAGCCATACTG___GTGAACGCCCATTCCAGTGTAATCAGTGTGGGGCATCTTTTACTCAGAAAGGTAACCTCCTCCGCCACATTAAACTGCACACAGGGGAAAAACCTTTTAAGTGTCACCTCTGCAACTATGCATGCCAAAGAAGAGATGCGCTCACGGGGCATCTTAGGACACATTCTG___TGGAGAAACCCTACAAATGTGAGTTTTGTGGAAGGAGTTACAAGCAGAGAAGTTCCCTTGAGGAGCACAAGGAGCGCTGCCGTACATTTCTTCAGAGCACTGACCCAGGGGACACTG___CAAGTGCGGAGGCAAGACACATCAAAGCAGAGATGGGAAGTGAAAGAGCTCTCGTACTGGACAGATTAGCAAGCAATGTGGCAAAACGAAAAAGCTCAATGCCTCAGAAATTCATTG___GTGAGAAGCGCCACTGCTTTGATGTCAACTATAATTCAAGTTACATGTATGAGAAAGAGAGTGAGCTCATACAGACCCGCATGATGGACCAAGCCATCAATAACGCCATCAGCTATCTTGGCGCCGAAGCCCTGCGCCCCTTGGTCCAGACACCGCCTGCTCCCACCTCGGAGATGGTTCCAGTTATCAGCAGCATGTATCCCATAGCCCTCACCCGGGCTGAGATGTCAAACGGTGCCCCTCAAGAGCTGGAAAAGAAAAGCATCCACCTTCCAGAGAAGAGCGTGCCTTCTGAGAGAGGCCTCTCTCCCAACAATAGTGGCCACGACTCCACGGACACTGACAGCAACCATGAAGAACGCCAGAATCACATCTATCAGCAAAATCACATGGTCCTGTCTCGGGCCCGCAATGGGATGCCACTTCTGAAGGAGGTTCCCCGCTCTTACGAACTCCTCAAGCCCCCGCCCATCTGCCCAAGAGACTCCGTCAAAGTGATCAACAAGGAAGGGGAGGTGATGGATGTGTATCGGTGTGACCACTGCCGCGTCCTCTTCCTGGACTATGTGATGTTCACGATTCACATGGGCTGCCACGGCTTCCGTGACCCTTTCGAGTGTAACATGTGTGGATATCGAAGCCATGATCGGTATGAGTTCTCGTCTCACATAGCCAGAGGAGAACACAGAGCCCTGCTGAAGTGAATATCTGGTCTCAGGGATTGCTCCTATGTATTCAGCATCGTTTCTAAAAACCAATGACCTCGCCTAACAGATTGCTCTCAAAACATACTCAGTTCCAAACTTCTTTTCATACCATTTTTAGCTGTGTTCACAGGGGTAGCCAGGGAAACACTGTCTTCCTTCAGAAATTATTCGCAGGTCTAGCATATTATTACTTTTGTGAAACCTTTGTTTTCCCATCAGGGACTTGAATTTTATGGAATTTAAAAGCCAAAAAGGTATTTGGTCATTATCTTCTACAGCAGTGGAATGAGTGGTCCCGGAGATGTGCTATATGAAACATTCTTTCTGAGATATATCAACCACACGTGGAAAAGCCTTTCAGTCATACATGCAAATCCACAAAGAGGAAGAGCTGACCAGCTGACCTTGCTGGGAAGCCTCACCCTTCTGCCCTTCACAGGCTGAAGGGTTAAGATCTAATCTCCCTAATCTAAATGACAGTCTAAGAGTAAGTAAAAGAACAGCCATAAAATAAGTATCTGTTACGAGTAACTGAAGACCCCATTCTCCAAGCATCAGATCCATTTCCTATCACAACATTTTTAAAAAATGTCATCTGATGGCACTTCTGCTTCTGTCCTTTACCTTCCCATCTCCAGTGAAAAGCTGAGCTGCTTTGGGCTAAACCAGTTGTCTATAGAAGAAAATCTATGCCAGAAGAACTCATGGTTTTAAATATAGACCATCATCGAAACTCCAGAAATTTATCCACTGTGGATGATGACATCGCTTTCCTTTGGTCAAGGTTGGCAGAGCAAGGGTATAAAGGGGGAAATTGTTTGGCAGCACCAACAGAAAACAAACAAACAAAAAACAGCTACCTAAAACTTCTTGAAAGAGTTCATGGAGAATTGGTGATACAGACCCAAAGCAAATTTGCCAATGATATTTTCCACAAAAAAAGTCCAAAAAGTATGGCTCAGCCTCCCCCTCCCCACAGGAGAGGAATTGGAGATAGATGGCATGTGTGTTTAGATCGGAGTTGAGCTCCGGAATGGGGTGAGGAGGGACACCTCTATTGAGAGGTTCTCCTTGATCAGGCAGGCTTCGGCCCTTTTTTTCCCATTTAAATGGAACTGCTGTATTCCATGAAAATTCCTGAAAGTCTGATCACGGTTCTGCAGATGTATAAGTCATCCTTGTCACTCATAATATGTACATACTATCAGGAGGAGTGCTGTTATCATGGTAAAATTAGCACTGGAATAGGAGGTCACAAAATGCTGGCTAATTAGCTATGTGACTTTGAGAAATCGTTTAACTTTTTTTTTTTTTTTTTTTTTGAGACAGGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCAGTGCAGCCTCGACCTCCCCAGGCTCAGGTGATCCTCCCACCTCAGCCTCTTGAGTACTGGGACAACAAGTGCACACCACCATGTCTGGCTACATTTTGTTCTTTTTGTAGAGATAGGGGTCTCACTATGTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCAATCAGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTTATTTAACTCTTAAAACTCAGTTTCCGGCCAGGCTCGGTGGCTCACACCTGTAATCCCAACACTTTGGGAAGCCGAGGCAGGCGCATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCAGTAGTGGCACATGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGAAAAATCGCTTAAGCCTGGGAGGTTGAGGTTGCGGTGAGTGGAGATCACACTACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAACAAAACAAAACAAAAACAAACAAACAAAAACAAAAAAAACTCAGTTTCCTCATCCATAAAATAGGAATTAGATTTCAATGTTCTCTTAGGTCCCTTCTAGCTTTAATTCATATGTGATTATGCAGTAACCACAAGGTATTTTTTAAACCTCCTAATGTATGGATATTAAGCAGAAGAGTATTTATATGAATACATGTTTCACATTCCTTTGGTATGAAAATGGTGTGTTAAGTTTTTCCTTTAACCACTGAGTTGTGAATGTGAAGAAGGTGGTGGAGAGGAACAAAAAACAGAAAGGTATTTTGATCTTGCCACAAAGCATACACACAAATTGGCACATGCAGCTGTTTGCCAAAGCCTTCTTTTTTTTTTTACTTTTTAAGAAATTATGTTAGGGAAAATAAATTCTGCTTCCAGGGACAACTTCATGGAGCCTATTTACAAATTAAGAGTCAGCTTAATTTGTAACATTTCTACCAGAGCCAAGAATCCCAAATTCCTGGTAGATTAGTGTTTTATTTCTAAGGGGCTTATGCATTCGGCTCCAACTCAACTCGTCTATGTGCTGCCAGTAATTAAAATGTTCCACCTCAGACTGCACAAATGGCTTATCCTTCTTTGTGGCATGGCGTCTGTCTCAGGAAAAAAGGTTTTATGAAATTCCATGGCAACAGTCCCAACATGTTTGAGACTTCAGCTAAAGGAATGGATGTATTTTGGTGTGTAGTCTTCAGTATATCACTGTATTTCCGTAATACTAGACTCCAAGCTATGCCAGATTGCTTATTCCCTTTGTGAAAGAGGAGTTGCTCATTACGTTCTTGAAATATCGCACATCCTGTTGGTTCTTCAAGGGACAAGAGAAAGAGAATTTGGAAGCAGGGATTAGTAGAAGAGAAAACGAGGGAAAGGAAGCCTTTCCACCAGATTAGTGTTCAAGTCTTTGCAGAGGAGACCAACTTTTTTTGTTTTCTTTTGTTTTGAGACAGTCTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCCAGTCTCAAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCTACCGCACCCAGCCTGAGACCACCTTTTGCATCTCAAGATTGTGAAACCAAGGCCCATTCCACCAGCCTGGGGACTCTTTTTATAGATATGATCCTCCTTTTTCCTGTGACTAATGAATTTGCTGCATGATTTCTATTCTTCTGAGGTTAGTTTTCTGAGTAAGGTGACCACTCACAAAGGCACTTTCTTTGTGGCATTCTGAGCCTAGATTGGGGCCCATCAATTCCAGAAAAAATTTATGTGTGGAAACTCTGCATCCTTAAGTCTTGAAGTTGAACCAGATATGCAGTGGTTACCATCACACAGATAAACGCTGCCTTCTGTACATACCCCTTATGCTGTACTAATTAACAAACCCCTTGCCAGGGCTGGGGAGGTGAGGGTGAAGGAGAATCTTAGCAGAAGGGCAGAGTCAGGACTTGCATCTGCCACTGCTGGGCACTGAAGCCCTGGAGCAGCTTCAGATAGTACCTGTACTTTCTCATGCAGACTCCCTCTGAACAAGAGCCTTGTAGGCCCCTCTCCTTCATTTCCCACCAGCCTCTTATCAGGCGGGCTTTCCACCATACACCCAGGAGGCCACGGTCTGAGGAACAACCAAACCCATGCAAAGGGCCGGGCGCGATAGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCTGGGGCAGGCAGATCACCTGAGGTTGGGAGTTCGAGACCTGCCTGACCAACATGGAGAAACCCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGATGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAGATGGCACCACTGCACTCCAGCCTCGGCAACAAGAGCGAAACTCTGTCTAAAACAAAAACAAACAAACAAACAAAAAAACCCAGGCAAAGTTTCCTTGCAGCCAAGGTGACAGAACTGGGCTGAGGGTGGAAAAGAAACAGAACCAGTGCTCCAGGTGTTTTTTAATTTTTTAATTTATTTTTATTTTTTTTGTATATGTATATATATGTATGTATATTTTAGAGGACCAGGGTCTCACTATGTTGCCTAGGCCAGACTCAAACTCCTGTGCTCAAGCAATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACAAACAATGCCCAGCTCTCCAAATGTTTTCTGTCACTACCTGAAGTGTTGCATCGGTACTTCCTACGGAAAGAAAACTAAATAGAAGTGTCTCTCCCGTGAGCCCCCACCACTACCACCAGAAAAAAAAAAGAGAGAAAATGAACTCATCAGTCTTTAGTTTCCTCAAGTTATTCTCCCAAAAAGACATTCGCCTTGGCACAGATAAGCCAGCTAATCTTATGCTTTATGACCCACTGTGAGCTGTTCCTGACACAGCTTCTGACTTTGTCAGTGACAAAATTTCTCACCTTTTAAATGCAGTGCTTAACATTTTGTTAGGCCCATACTCAAAATCGGCCAGATATAAAATGACCTCAGATTTTGATCTCCTAGGCTCAAACAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACACCACCATGCACAGCTAATTTTTTTTGTATTTTTCTGCAGAGATGGCGTTTCGCCATACTGCCCAGGCTAGTCTCAAAATCCTGGGCTCAAGCAATCTGCCCACCTCAGCCTCCCAAAGTGCTGGAACTACAGGCAAGAGCCACTGCGCCCAGCCACAACCTCAGATTTCTTTGGCAAACAGAAATGTTTAAAAACACAAAATTTTGCTCAGGTGAAACACTGTGTTACTATCAAATCTCACATCCACATAAAGTTTTTCTTTTCGGCTTTGTTTCGTGAGGAACAGACAGAACAAAGTTTTTCCAGGTAGCATCTGTATCACTATTATTCTCCTATTTCCTGTACCACCCCCACCTCCCCAAGCCCTACTGAATGTGAGGTTTAGAATGTTTTAAGGAGGGTCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGTTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGAGGAGGTTGTGGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCGAAAAAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCAATCCAGCCTGGACAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAATGTTTTAAGGAAAAAAATAGTACTGTTACATATAATCCCAGGTGATAAGACCACAATGGAAATGTTTAAGTCCTCACTTTAAAGAGTACCCCACTGAGAAGAGGTATGTTGGACTCTAGCAGAGATTTGGAAACTCTGGGACACTCAAGATGTGAAAGAGCCTGGCTATCTGAGGACTCAAAGAGTCAGCATCGGGACTTGTGAGCTCAAGAAGAGAAAAGGGAGTGGTGAAACTTTGTCCTAAAAGTTAGCACCAGGAACAGAAGAAAAAAACCCGATATATAGTGATACCTCATCTTTTAGAGAATGGGAAGCTATTTTTGTGTTCACACAGAAAGTATAGTTCAAAAAACCTCTATATCCAGAGTTCAGACAAGGAGAATGATTTGAGATATAAGTGCCGATGAAGGAGGTCAATTTTGATCTGAAACCAGCAGCTGGACCTGGGCCACCTCAGGAAAAGGACTCTGTTCTCCAAGGCAGCACGACTGAATGGTTCTGAGAATAAGCCAGGGTTCAGGACTCCTGACCCTTTAGGACCATGGACTCAGAAGAGCCTGAAGGACAATTGTGGGCTTTAAACTTCTGAGAGCTTGTAAAGTAACACAAGACTGTGCCTCTCCCTTGCCCCAGCTGTAGATAGTCTTTGCCCCACCATTGTTATGAAGATACACAGGGTTTTGCAGTTTGAATAAATTGGATACAAGTTTCCTCTTTTTTTTTTTCTTTTTGAGACAAAGTCTCGCTCTGTTTCCCCAGGCTGAGTGCAGTGGCACAATCAAGGCTTACTTGCCGCCTCAACCTCCTGGGCTCAAGCAACGAGCCATCCTCCCGTCTTAGCCTCCCAACTAGCTGAGACTACAGGCGTGGGTCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCCTGAACTCCTGGGCTCAAGTAATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGGTTACAGGCGTGAGGCACCGCGGCTGGCCTGAGTTTCTTCTTAATACTGTATCACAATTGTGGGCTGTCTTATGTGTTGATATCGATTGAGCTATTTGAAATAGGAATGTTAATGGGTGTATTAAATTTTTGTAAGGATATAACAATATCTACCTTCCAAGGATGTTGTGAGGTTTTCCATGATTTTGTATATGAGCTAATGTTACCTTTGAGGGGTGGTGTGCATTATGTTGGATGATTGTAAATTTTCAGTGGAAAATGTACCGTGTCCTAAATTTAAAGACATGAAAAATATCCCAAGATCATACTAGATCATAATAGCAATTCCTTTACAAATGAATTATGGAGGTAACTGATCTCTAACAGTTTCCTTCATGTTGTTTTAATGCACAAGGGCAGAGGATCTGCTGACCCTTGGAACCAGCGTGAGCTAACCACGTGCTATAGACACTTCATGGTGTCGCACCCAGGGAAGTCAAAGCGCTTTGCTCCCTCACTGTCTGTGAGTCCTCAGCCATTAGTACCCCACCCCCCGCTGCTCCAAAACTTGAGTTATTTCAAATGTTTCTCACTGTTCATCTCTCCACTGACCCCACTCCAGAAAGCCTGGAGAGAGTCCCAAGATGCCACCCACCTTCCCCAATCCCTCGCCACAGATCTGTGTCTATCTCACACTCTGTAAGTGCCGCTTTGCTTCTTCCTCTCTTGAAAAGACTGAGAACACACATTTTAACATGTTAGGAAAATGGGGCAGCCTAAAAAATGACTGATCCCACCGCCAGTGACTCATGTATACTCCAGGCTAGCAGACAAGGCCCTTTTTGGTGGGCCTGCTTCTGTGGGTTCACAGAAACCAAATTACTGTGGGTTGCAAAGAATTAGCAGGTCATTTACAAAGCAGACATCCCTTCACCCAGACTGTGGTTTTGCATGCTCAGGTTCTCAGTCTATGAGCTTTGGTGCAGGATCATTTTGGCTACTGGAAAAACCATAGCTTATTTTAAATTTCTGGTTGCCAAAGCCACCACACGTGTGGTCTGTGGATGACCATTGTCTGCAGAATGACGAGGAAGGAACAGAATGTGGTTTGGGGCTCAGGGTGGCCTTCCCACTGGGAGGGAAGGCGGGAGGGAGCCCTTGCCCTGGGTTTTGACACAGCCTGTGCTCACAGCCTCTCCTCTCATCTGCATTTCTCAGAAATGCCCTCCCTGCCCAGTGGTGACTTTCCCTCGTCACTCCTATGGAGTTCTACCTGGAGCCCAGCCATGTGTGGAACTGTGAAGTTTACTCCTCTGTAAAGATGGTTTAAAGAAAGTCAGCTTCTGAAATGTAACAATGCTAACCCTTGCTGGAACCCTGTAAGAAATAGCCCTGCTGATAGTTTTCTAGGTTTATCATGTTTGATTTTTACACTGAAAAATAAAAAAATCCTGGTATGTTTGAAA)$ . 11BR028 ENSG00000278053.5 ENSG00000161381.14 -/- -/+ chr17:37642110 chr17:39107483 CDS/splice-site CDS inversion/5'-5' 17 0 3 367 340 high out-of-frame . . . . ENSG00000278053.5 ENSG00000161381.14 ENST00000617633.5 . upstream upstream . ^(AGAACTGTGGCGCTTTCTGGGTAAAGATGGACGTCCACGATCTCTTTCGCCGGCTCGGCGCGGGGGCCAAATTCGACACGAGACGCTT)CTCGGCAGACGCAGCTCGATTCCAG___ATAGGAAAAAGGAAATATGACTTTGATTCTTCGGAGGTGCTTCAGGGACTGGACTTTTTTGGAAACAAGAAGTCTGTCCCAGGTGTGTGTGGAGCATCACAAACACATCAGAAGCCCCAAAATGGAGAGAAAAAAGAAGAGAGCCTAACTGAAAGGAAGAGGGAGCAGAGCAAGAAAAAAAGGAAGACGATGACTTCAG|CCTTGGAGATAAACGTGGTCCCACTGAACCACAAAGACTGTCCCTGGGGAGAAGAACAGAGACCCGGCTGGACGGGAGATCATGCAAGGAGCAGGGCCCTACAGAAATGCCAGTCGGAGGGCAGCGGCCACAGGTTGGGTCCCTTCGGGATGATGGGGAAGTTTGCAAAGGTAAGGAGGC MDVHDLFRRLGAGAKFDTRRFSADAARFQIGKRKYDFDSSEVLQGLDFFGNKKSVPGVCGASQTHQKPQNGEKKEESLTERKREQSKKKRKTMTS|aleinvvplnhkdcpwgeeqrpgwtgdharsralqkcqsegsghrlgpfgmmgkfakvrr 11BR028 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 7 1 21 18 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismatches(1) CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTAC(AGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR028 ENSG00000140396.13 ENSG00000117632.23(36612),ENSG00000158006.14(16164) -/- ./+ chr8:70213903 chr1:25943603 CDS/splice-site intergenic translocation 8 8 0 79 40 high out-of-frame . . . . ENSG00000140396.13 . ENST00000452400.7 . upstream upstream duplicates(1) ^(AGCAGTTATTAACACGGGAACATGGCGGCCGCAGCCTCGGCTACAGCTTCGGCGGCGAAGGTCAGCGCCGACGGCAGCCGGCACCTGACGGCGTGACCGACCCGAGCCG___ATTTCTCTTGGATTTGGCTACACACTTATAGATCTTCTGCACTGTTTACAGGCACAG___)TTGCTGATATGTGTTCAAGATGAGTGGGATGGGAGtAAATtCCTCTGACCCCTCCAGGGCAGAGACAAGAAAGCGCAAGGAATGTCCTGACCAACTTGGACCCAG___CCCCAAAAGGAACACTGAAAAACGTAATCGTGAACAGGAAAATAAATATATAGAAGAACTTGCAGAGTTGATTTTTGCAAATTTTAATGATATAGACAACTTTAACTTCAAACCTGACAAATGTGCAATCTTAAAAGAAACTGTGAAGCAAATTCGTCAGATCAAAGAACAAG|AAAAGAAAAgAGAAGCGAAACTAAAGGCaTGTAGCCCGGTGCCTAGGAACCAGACCCGAAACCAAGGAACCAGACCTGCAACCAGGCCTGAGCCTGCCTGACCTAAGCCTGGTAGTTAAAGATTGACCCCTGACCTAACCAGTTATGTTATCTATAGATTTCAGACATTGTATAGAAAAGACATTGTGAAACTTCCTGGTCTGTTCTGTTTCACTCCGACCACCGGT MSGMGvNsSDPSRAETRKRKECPDQLGPSPKRNTEKRNREQENKYIEELAELIFANFNDIDNFNFKPDKCAILKETVKQIRQIKEQ|ekkreaklkacspvprnqtrnqgtrpatrpepa* 11BR028 ENSG00000170921.15 ENSG00000236319.2(86616),ENSG00000166292.12(71434) +/+ ./+ chr17:63314669 chr17:55648193 CDS/splice-site intergenic duplication 7 8 1 115 30 high out-of-frame . . . . ENSG00000170921.15 . ENST00000424789.6 . downstream upstream mismatches(1) ^(AACCATGTTTCGGAATAGTCTCAAGATGCTGCTTACTGGTGGGAAATCAAGTCGTAAAAACAGGTCAAGTG___ATGGAGGGAGCGAGGAACCACCGGATCGAAGACAGTCAAGTGTAGACTCTCGCCAAAGCCGCTCTGGGCAAG___GTGGCATCTCCACAGAAAGCGACTGTGCTTTTGAGCCAGACTACGCTGTCCCGCCACTTCCAGTGAGTGAAG___GTGATGCTGAACAGGAGCTTGGCCCCCCTCCATCTGTAGATGAGGCAGCAAACACACTCATGACTCGTCTGGGTTTCCTCCTTGGAGAGAAAGTCACAGAAGTTCAGCCAGGTGACCAATACAGCATGGAAGTACAGGATGAAAATCAG___ACCTCAGCAATCACCCAGCGGATAAGTCCTTGTTCCACTCTGACTAGCAGCACTGCCTCTCCACCAGCCAGTAGCCCCTGCTCTACACTCCCACCCATCAGTACAAATGCAACTGCCAAGGACTGCAGCTATGGGGCTGTTACTAGTCCAACCTCTACCCTTGAAAGCAGAGATAGTGGCATCATTG___CTACATTAACAAGCTATTCTGAAAATGTGGAACGCACAAAATATGCTGGGGAAAGCAGTAAAGAATTAGGATCTGGAGGAAACATAAAACCTTGGCAGTCTCAAAAATCCAGCATGGACTCCTGTTTGTATCGAGTAGATGAAAACATGACTGCTTCCACCTATAGTCTGAATAAGATCCCAGAGAGAAATTTGGAAACAGTGTTATCTCAATCAGTACAGTCTATTCCTTTGTATCTCATGCCACGGCCAAATTCAGTAGCAG___CCACCAGCTCTGCCCACTTGGAAGACCTTGCTTACCTGGATGAGCAGAGACATACACCTTTGAGAACTTCTCTACGAATGCCAAGACAGAGCATGGGTGGTGCTCGCACACAGCAGGATTTAAGAG___TTCGCTTTGCACCTTATAGGCCTCCAGATATCTCCTTGAAGCCTCTGCTCTTTGAAGTGCCCAGCATCACTACAGAGTCAGTGTTTGTT)GGCCGAGATTGGGTTTTCCACGAAATAGATGCTCAACTTCAAAGTTCAAATGCCAGCGTGAACCAAGGAGTAGTGATTGTGGGAAACATTGGATTCGGCAAAACTGCCATCATCTCCAGACTGGTGGCCCTCAGCTGCCATGGTACAAGGATGAGACAGATCGCCTCAGACAGCCCACATGCCTCCCCCAAAC|AACTTGTCTGAGGCAACAAAGAGAGCAAAGAGAAAGATAAAGATGGAGTCCTCAAAGAATAAACATGATTAAGAGCAGAGCCCACAGCTCCAGATGTGAAAACCATGACTCGATTGTCAGTGAGGAGAGACTGGTCCCTGGGGTTTGCTGACCTCCCAGGGAGCAATGCATTTCAGAGAGCTGTCAGAGCAGTTTTCTTCTTTAAGCCCTGG MFRNSLKMLLTGGKSSRKNRSSDGGSEEPPDRRQSSVDSRQSRSGQGGISTESDCAFEPDYAVPPLPVSEGDAEQELGPPPSVDEAANTLMTRLGFLLGEKVTEVQPGDQYSMEVQDENQTSAITQRISPCSTLTSSTASPPASSPCSTLPPISTNATAKDCSYGAVTSPTSTLESRDSGIIATLTSYSENVERTKYAGESSKELGSGGNIKPWQSQKSSMDSCLYRVDENMTASTYSLNKIPERNLETVLSQSVQSIPLYLMPRPNSVAATSSAHLEDLAYLDEQRHTPLRTSLRMPRQSMGGARTQQDLRVRFAPYRPPDISLKPLLFEVPSITTESVFVGRDWVFHEIDAQLQSSNASVNQGVVIVGNIGFGKTAIISRLVALSCHGTRMRQIASDSPHASPK|qlv* 11BR028 ENSG00000100422.14 ENSG00000286869.1 -/- -/- chr22:46712168 chr12:13259195 CDS/splice-site intron translocation 7 8 0 111 25 high out-of-frame . Diacylglycerol_kinase_catalytic_domain(100%)| . . ENSG00000100422.14 ENSG00000286869.1 ENST00000216264.13 . upstream downstream . ^(GCCGCCCGCCGCCCGCCGCCCGGGCCACTGCAGGGGCCGCTAACGGTCCGGCGCCCCTCGGCGTCCGCGCGCCCCCAGCCTGGCGGACGAGCCCGGCGGCGGAGATGGGGGCGACGGGGGCGGCGGAGCCGCTGCAATCCGTGCTGTGGGTGAAGCAGCAGCGCTGCGCCGTGAGCCTGGAGCCCGCGCGGGCTCTGCTGCGCTGGTGGCGGAGCCCGGGGCCCGGAGCCGGCGCCCCCGGCGCGG___ATGCCTGCTCTGTGCCTGTATCTGAGATCATCGCCGTTGAGGAAACAGACGTTCACGGGAAACATCAAGGCAGTGGAAAATGGCAGAAAATGGAAAAGCCTTACGCTTTTACAG___TTCACTGTGTAAAGAGAGCACGACGGCACCGCTGGAAGTGGGCGCAGGTGACTTTCTGGTGTCCAGAGGAGCAGCTGTGTCACTTGTGGCTGCAGACCCTGCGGGAGATG)CTGGAGAAGCTGA___CGTCCAGACCAAAGCATTTACTGGTATTTATCAACCCGTTTGGAGGAAAAGGACAAGGCAAGCGGATATATGAAAGAAAAGTGGCACCACTGTTCACCTTAGCCTCCATCACCACTGACATCATCG|ATGAAGAAGCTCAAGTCGGGATGGTGATGTGGCTTTCCCAAGACCGCATCATTAGCGGCCAAATAATAACATACCTAGCCCTTCCTGGAGTGGAAGACAAACCCCAAAGGCCCTGACAACTTGGGATATAAGCCGTTCCCATCTGCGAGTCCTGCTTTTCCAGGAACACAGCACCACTACTGAGACTTCCCACCCTGCGATTCAAAAGTCTTGCCTCCTCAGGACCAGCAAAG MGATGAAEPLQSVLWVKQQRCAVSLEPARALLRWWRSPGPGAGAPGADACSVPVSEIIAVEETDVHGKHQGSGKWQKMEKPYAFTVHCVKRARRHRWKWAQVTFWCPEEQLCHLWLQTLREMLEKLTSRPKHLLVFINPFGGKGQGKRIYERKVAPLFTLASITTDII|deeaqvgmvmwlsqdriisgqiitylalpgvedkpqrp* 11BR028 ENSG00000278053.5 ENSG00000263818.5 -/- +/+ chr17:37642110 chr17:39104252 CDS/splice-site intron inversion 14 0 1 367 64 high out-of-frame . . . . ENSG00000278053.5 ENSG00000263818.5 ENST00000617633.5 . upstream upstream mismatches(1) ^(AGAACTGTGGCGCTTTCTGGGTAAAGATGGAC)GTCCACGATCTCTTTCGCCGGCTCGGCGCGGGGGCCAAATTCGACACGAGACGCTTCTCGGCAGACGCAGCTCGATTCCAG___ATAGGAAAAAGGAAATATGACTTTGATTCTTCGGAGGTGCTTCAGGGACTGGACTTTTTTGGAAACAAGAAGTCTGTCCCAGGTGTGTGTGGAGCATCACAAACACATCAGAAGCCCCAAAATGGAGAGAAAAAAGAAGAGAGCCTAACTGAAAGGAAGAGGGAGCAGAGCAAGAAAAAAAGGAAGACGATGACTTCAG|ATAAAGAAATAAACGCAGAGAGGTTGAGTGACTCACCAGAGGTCAGATGCTTGTGGAAAGTGTGGACTCCAGCTCAGGCTTCCAGTTCCAGAG MDVHDLFRRLGAGAKFDTRRFSADAARFQIGKRKYDFDSSEVLQGLDFFGNKKSVPGVCGASQTHQKPQNGEKKEESLTERKREQSKKKRKTMTS|dkeinaerlsdspevrclwkvwtpaqasssr 11BR028 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 7 5 0 18 21 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream duplicates(1) CACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAG(TGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11BR028 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 9 0 15 49 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1) GCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAG(GGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR028 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 6 0 34 17 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGAT)GTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR028 ENSG00000101158.15 ENSG00000238004.1(85823),ENSG00000223290.1(43764) +/+ ./- chr20:58981369 chr2:154546643 CDS/splice-site intergenic translocation 2 8 0 43 9 high out-of-frame . . . . ENSG00000101158.15 . ENST00000602795.6 . downstream downstream duplicates(1) ^(GAGGCGCGCGGCCGCGCGTGCGCCCGCCCGCCCGTCCCCGCCTCGCGCATGCGCCGCGCTCGCTCGC)GGGAGGGCATGGCGGGGGCCGTGCCGGGCGCCATCATGGACGAGGACTACTACGGGAGCGCGGCCGAGTGGGGCGACGAGGCTGACGGCGGCCAG|GCTCAACACCACGTGGAAGCTGCTAAGGATTGGGGCTGGCACCCTCTGAAGTCACAGACTGAGCTGTACCTTGACCACTTTTAGCCATGGCCGAAGTGGCTAGGACACAGGGCACCGAGTCCCTAGGCTGCACACAGCAGGGGGGACCTAGGTCCAGCCCATGAAACCATTTTTTCCTCCTAGGCCTCCAGTTCTGTGATGGGAGGAGCTGCTGTGAAG MRRARSREGMAGAVPGAIMDEDYYGSAAEWGDEADGGQ|aqhhveaakdwgwhplksqtelyldhf* 11BR028 ENSG00000170832.13 ENSG00000288036.1(10057),ENSG00000263199.1(22459) -/- ./+ chr17:60183165 chr17:54680477 CDS/splice-site intergenic inversion 7 2 0 296 5 high out-of-frame . DUSP_domain(100%),EF_hand(100%),Ubiquitin-like_domain(100%),Ubiquitin_carboxyl-terminal_hydrolase(100%)| . . ENSG00000170832.13 . ENST00000300896.9 . upstream upstream . ^(CGTGATCCGGCATGGAGGCGGTGGCGGCGACCGGGAGGAGCCGCCGGGGCAGAAGCCGCACTTGTTAGTGTGGGGGGAGGTGGGGGCGGGGGACGCCGACACCGTCACCGTCACCCAGGGACGCCGAGGAGAAGGCGGGAGGGGGGTGGGGGCGAGATCAGGCTCCGACCCCCCGCCGAGGGGATGAGGGGAGCATGGGTGCCAAGGAGTCACGGATCGGATTCCTCAGCTACGAGGAGGCGCTGAGGAGAG___TTACAGATGTAGAGCTAAAACGACTGAAGGATGCTTTCAAGAGGACCTGTGGACTCTCATATTACATGGGCCAGCACTGCTTCATCCGGGAAGTGCTTGGGGATGGAGTGCCTCCAAAGGTTGCTGAG___GTGATTTACTGTTCTTTTGGTGGAACATCCAAAGGGCTGCACTTCAATAATTTAATAGTTGGACTTGTCCTCCTTACAAGAGGCAAAGATGAAGAGAAAGCAAAAT___ACATTTTTAGTCTTTTTTCAAGTGAATCTGGGAACTATGTTATACGGGAAGAAATGGAAAGAATGCTCCACGTGGTGGATGGTAAAGTCCCAGATACACTCAGGAAGTGTTTCTCAGAG___GGTGAAAAGGTAAACTATGAAAAGTTTAGAAATTGGCTTTTTCTAAACAAAGATGCTTTTACTTTCTCTCGATGGCTTCTATCTGGAGGTGTGTATGTTACCCTCACTGATGATAGTGATACTCCTACTTTCTACCAAACTCTGGCTGGAGTCACACATT___TGGAGGAATCAGACATCATTGATCTTGAGAAACGCTATTGGTTATTGAAGGCTCAATCCCGGACTGGACGATTTGATTTAGAGACATTTGGCCCATTGGTTTCACCACCTATTCGTCCATCTCTAAGTGAAG___GTTTGTTTAATGCTTTTGATGAAAATCGTGACAATCACATAGATTTTAAGGAGATATCCTGTGGGTTATCAGCCTGTTGCAGGGGACCCCTGGCTGAAAGACAAAAAT___TTTGCTTCAAGGTATTTGATGTTGACCGTGATGGAGTTCTCTCCAGGGTTGAACTGAGAGACATGGTGGTTGCACTTTTAGAAGTCTGGAAGGACAACCGCACTGATGATATTCCT___GAATTACATATGGATCTCTCTGATATTGTAGAAGGCATACTGAATGCACATGACACCACAAAG___ATGGGTCATCTTACTCTGGAAGACTATCAGATCTGGAGTGTGAAAAATGTTCTTGCCAATGAGTTTTTGAACCTCCTTTTCCAG___GTGTGTCACATAGTTCTGGGGTTAAGACCAGCTACTCCGGAAGAAGAAGGACAAATTATTAG___AGGATGGTTAGAACGAGAGAGCAGGTATGGTCTGCAAGCAGGACACAACTGGTTTATCATCTCCATGCAGTGGTGGCAACAGTGGAAAGAATATGTCAAATAC___GATGCCAACCCTGTGGTAATTGAGCCATCATCTGTTTTGAATGGAGGAAAATACTCATTTGGAACTGCAGCCCATCCTATGGAGCAGGTCGAAGATAGAATTGGAAGCAGCCTCAGTTACGTGAATACTACAGAAGAGAAATTTTCAGACAACATTTCTACTGCATCTGAAGCCTCAGAAACTGCTGGCAGCG___GCTTTCTGTATTCTGCCACACCAGGGGCAGATGTTTGCTTTGCTCGACAACATAACACTTCTGACAATAACAACCAGTGTTTGCTGGGAGCCAATGGGAATATTTTGTTGCACCTTAACCCTCAGAAACCAGGGGCTATTGATAATCAGCCATTAGTAACTCAAGAACCAGTAAAG___GCTACATCATTAACACTAGAAGGAGGACGATTAAAACGAACTCCACAGCTGATTCATGGAAGAGACTATGAAATGGTCCCAGAACCTGTGTGGAGAGCACTTTATCACTGGTATGGAGCAAACCTGGCCTTACCTAGACCA___GTTATCAAGAACAGCAAGACAGACATCCCAGAGCTGGAATTATTTCCCCGCTATCTTCTCTTCCTGAGACAGCAGCCTGCCACTCGGACACAGCAGTCTAACATCTGGGTGAATATGG___GAAATGTACCTTCTCCGAATGCACCTTTAAAGCGGGTATTAGCCTATACAGGCTGTTTTAGTCGAATGCAGACCATCAAGGAAATTCACGAATATCTATCTCAAAGGCTGCGCATTAAAGAGGAAGATATGCGCCTGTGGCTATACAACAGTGAG___AACTACCTTACTCTTCTGGATGATGAGGATCATAAATTGGAATATTTGAAAATCCAGGATGAACAACACCTGGTAATTGAAG___TTCGCAACAAAGATATGAGTTGGCCTGAGGAGATGTCTTTTATAGCAAATAGTAGTAAAATAGATAGACACAAGG___TTCCCACAGAAAAGGGAGCCACAGGTCTAAGCAATCTGGGAAACACATGCTTCATGAACTCAAGCATCCAGTGTGTTAGTAACACACAGCCACTGACACAGTATTTTATCTCAGGGAGACATCTTTATGAACTCAACAG___GACAAATCCCATTGGTATGAAGGGGCATATGGCTAAATGCTATGGTGATTTAGTGCAGGAACTTTGGAGTGGAACTCAGAAGAATGTTGCCCCATTAAAGCTTCGG___TGGACCATAGCAAAATATGCTCCCAGGTTTAATGGGTTTCAGCAACAGGACTCCCAAGAACTTCTGGCTTTTCTCTTGGATGGTCTTCATGAAGATCTTAATCGAGTCCATGAAAAGCCATATGTGGAACTGAAGGACAGTGATGGGCGACCAGACTGGGAAGTAGCTGCAGAG___GCCTGGGACAACCATCTAAGAAGAAATAGATCAATTGTTGTGGATTTGTTCCATGGGCAGCTAAGATCTCAAGTAAAATGCAAGACATGTGGGCATATAAGTGTCCGATTTGACCCTTTCAATTTTTTGTCTTTGCCACTACCAATGGACAGTTATATGCACTTAGAAATAACAG___TGATTAAGTTAGATGGTACTACCCCTGTACGGTATGGACTAAGACTGAATATGGATGAAAAGTACACAGGTTTAAAAAAACAGCTGAGTGATCTCTGTGGACTTAATTCAGAACAAATCCTTCTAGCAGAAGTACATGGTTCCAACATAAAG___AACTTTCCTCAGGACAACCAAAAAGTACGACTCTCAGTGAGTGGATTTTTGTGTGCATTTGAAATTCCTGTCCCTGTGTCTCCAATTTCAGCTTCTAGTCCAACACAGACAG___ATTTCTCCTCTTCGCCATCTACAAATGAAATGTTCACCCTAACTACCAATGGGGACCTACCCCGACCAATATTCATCCCCAATGGAATGCCAAACACTGTTGTGCCATGTGGAACTGAGAAGAACTTCACAAATGGAATGGTTAATGGTCACATGCCATCTCTTCCTGACAGCCCCTTTACAGGTTACATCATTGCAGTCCACCGAAAAATG___ATGAGGACAGAACTGTATTTCCTGTCATCTCAGAAGAATCGCCCCAGCCTCTTTGGAATGCCATTGATTGTTCCATGTACTGTGCATACCCGGAAGAAAGACCTATATGATGCGGTTTGGATTCAAGTATCCCGGTTAGCGAGCCCACTCCCACCTCAGGAAGCTAGTAATCATGCCCAGGATTG___TGACGACAGTATGGGCTATCAATATCCATTCACTCTACGAGTTGTGCAGAAAGATGGGAACTCCTGTGCTTGGTGCCCATGGTATAG___ATTTTGCAGAGGCTGTAAAATTGATTGTGGGGAAGACAGAGCTTTCATTGGAAATGCCTATATCGCTGTGGATTGGGATCCCACAGCCCTTCACCTTCGCTATCAAACATCCCAGGAAAGG___GTTGTAGATGAGCATGAGAGTGTGGAGCAGAGTCGGCGAGCGCAAGCCGAGCCCATCAACCTGGACAGCTGTCTCCGTGCTTTCACCAGTGAGGAAGAGCTAGGGGAAAATGAGATGTACTACTGTTCCAAGTGTAAGACCCACTGCTTAGCAACAAAGAAGCTGGATCTCTGGAGGCTTCCACCCATCCTG___ATTATTCACCTTAAGCGATTTCAATTTGTAAATGGTCGGTGGATAAAATCACAGAAAAT)TGTCAAATTTCCTCGGGAAAGTTTTGATCCAAGTGCTTTTTTGGTACCAAGAGACCCGGCTCTCTGCCAGCATAAACCACTCACACCCCAGGGGGATGAGCTCTCTGAGCCCAGGATTCTGGCAAGGGAGGTGAAGAAAGTGGATGCGCAGAGTTCGGCTGGGGAAGAGGACGTGCTCCTGAGCAAAAGCCCATCCTCACTCAGCGCTAACATCATCAGCAGCCCGAAAG|AGCTCATCTTGATTGAAGAGGCTGCATGTCTCTGGAAAGCACCAACTCATTCTGCGTCGAGTAATAATTTTGTGCCTGTAGTCAAGCTAACACCCC MGAKESRIGFLSYEEALRRVTDVELKRLKDAFKRTCGLSYYMGQHCFIREVLGDGVPPKVAEVIYCSFGGTSKGLHFNNLIVGLVLLTRGKDEEKAKYIFSLFSSESGNYVIREEMERMLHVVDGKVPDTLRKCFSEGEKVNYEKFRNWLFLNKDAFTFSRWLLSGGVYVTLTDDSDTPTFYQTLAGVTHLEESDIIDLEKRYWLLKAQSRTGRFDLETFGPLVSPPIRPSLSEGLFNAFDENRDNHIDFKEISCGLSACCRGPLAERQKFCFKVFDVDRDGVLSRVELRDMVVALLEVWKDNRTDDIPELHMDLSDIVEGILNAHDTTKMGHLTLEDYQIWSVKNVLANEFLNLLFQVCHIVLGLRPATPEEEGQIIRGWLERESRYGLQAGHNWFIISMQWWQQWKEYVKYDANPVVIEPSSVLNGGKYSFGTAAHPMEQVEDRIGSSLSYVNTTEEKFSDNISTASEASETAGSGFLYSATPGADVCFARQHNTSDNNNQCLLGANGNILLHLNPQKPGAIDNQPLVTQEPVKATSLTLEGGRLKRTPQLIHGRDYEMVPEPVWRALYHWYGANLALPRPVIKNSKTDIPELELFPRYLLFLRQQPATRTQQSNIWVNMGNVPSPNAPLKRVLAYTGCFSRMQTIKEIHEYLSQRLRIKEEDMRLWLYNSENYLTLLDDEDHKLEYLKIQDEQHLVIEVRNKDMSWPEEMSFIANSSKIDRHKVPTEKGATGLSNLGNTCFMNSSIQCVSNTQPLTQYFISGRHLYELNRTNPIGMKGHMAKCYGDLVQELWSGTQKNVAPLKLRWTIAKYAPRFNGFQQQDSQELLAFLLDGLHEDLNRVHEKPYVELKDSDGRPDWEVAAEAWDNHLRRNRSIVVDLFHGQLRSQVKCKTCGHISVRFDPFNFLSLPLPMDSYMHLEITVIKLDGTTPVRYGLRLNMDEKYTGLKKQLSDLCGLNSEQILLAEVHGSNIKNFPQDNQKVRLSVSGFLCAFEIPVPVSPISASSPTQTDFSSSPSTNEMFTLTTNGDLPRPIFIPNGMPNTVVPCGTEKNFTNGMVNGHMPSLPDSPFTGYIIAVHRKMMRTELYFLSSQKNRPSLFGMPLIVPCTVHTRKKDLYDAVWIQVSRLASPLPPQEASNHAQDCDDSMGYQYPFTLRVVQKDGNSCAWCPWYRFCRGCKIDCGEDRAFIGNAYIAVDWDPTALHLRYQTSQERVVDEHESVEQSRRAQAEPINLDSCLRAFTSEEELGENEMYYCSKCKTHCLATKKLDLWRLPPILIIHLKRFQFVNGRWIKSQKIVKFPRESFDPSAFLVPRDPALCQHKPLTPQGDELSEPRILAREVKKVDAQSSAGEEDVLLSKSPSSLSANIISSPK|elilieeaaclwkapthsassnnfvpvvkltp 11BR028 ENSG00000213853.10 ENSG00000277369.1(11567),ENSG00000262117.5(10008) -/- ./- chr16:10580549 chr16:11809842 5'UTR/splice-site intergenic duplication 1 8 0 450 17 high . . . . . ENSG00000213853.10 . ENST00000359543.8 . upstream downstream mismappers(1) ^ACCCCCAGCCAGTCCGTCGATCCAGCTGCCAGCGCAGCCGCCAGCGCCGG|ATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTACAATCTCAGCTCACCGCCAACCTCTGCTTTCCGGGTTCCACTGATTCTCCTACCTCAGCCTCCCTGGTAGCTGGGATTACA . 11BR028 ENSG00000213853.10 ENSG00000122299.12 -/- -/- chr16:10580549 chr16:11782388 5'UTR/splice-site 5'UTR/splice-site duplication 3 5 0 450 51 high . . |Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%) . . ENSG00000213853.10 ENSG00000122299.12 ENST00000359543.8 ENST00000355758.9 upstream downstream . ^ACCCCCAGCCAGTCCGTCGATCCAGCTGCCAGCGCAGCCGCCAGCGCCGG|ATTGCTCATTTAGAAAGTGGATGTGTGGGATAACATGTCCAATGTGTCCGAGGAGAGAAGAAAAAGGCAGCAGAACATTAAGGAAGGACTGCAGTTTATACA___GTCACCGCTGTCATATCCAGGAACACAGGAGCAATATGCG___GTATATTTGCGTGCTCTCGTGAGAAATCTTTTTAATGAAGGAAATGACGTTTATCGGGAACATGATTGGAACAACTCGATAAGCCAGTACACGGAAGCCTTGAATATAGCTGATTATGCAAAATCTGAAGAAATTTTAATCCCC(AAAGAAATAATTGAAAAACTATATATAAATCGTATTGCCTGCTATTCTAATATG___GGTTTCCATGATAAAGTTTTGGAGGACTGCAATATAGTCCTCAGTTTAAATGCCAGTAACTGCAAAGCTCTGTATCGGAAATCTAAGGCTTTAAGTGATTTAGGAAGATACAAAAAGGCTTACGATGCTGTAGCAAAGTGCTCCTTAGCAGTGCCTCAG___GATGAGCATGTAATAAAACTAACTCAAGAACTAGCTCAGAAATTGGGATTTAAAATAAGAAAAGCGTATGTCAGAGCTGAG___CTCTCATTAAAATCAGTTCCTGGGGATGGGGCTACCAAG___GCTTTGAACCATTCTGTGGAAGATATTGAGCCAG___ATTTATTAACTCCAAGGCAAGAAGCAGTTCCTGTTGTCTCTTTACCGGCACCCAGTTTTTCTCATGAAGTTGGAAGTGAGCTGGCCTCAGTTCCTGTTATGCCCTTAACTTCTATTTTGCCACTACAAGTGGAAGAGAGCGCTCTGCCATCTGCAGTGCTGGCAAATGGAGGAAAGATGCCCTTCACTATGCCAGAAGCTTTTCTAGATGATGGAGATATGGTCCTTGGAGATGAACTAGATGACCTGCTTGATTCTGCACCTGAAACTAATGAAACTGTTATG___CCGTCAGCTTTAGTCAGAGGACCCCTTCAGACAGCCAGTGTCTCTCCTAGCATGCCCTTTTCGGCATCGCTGTTAGGAACCTTACCCATTGGTGCGAGGTATGCTCCTCCACCCTCCTTCTCAGAATTTTATCCACCTTTGACTTCATCCTTAGAAGATTTTTGTTCTTCTTTAAATTCATTTTCAATGAGTGAATCCAAACGAG___ATCTGTCCACCTCAACTTCTAGAGAGGGAACACCGCTTAACAACAGTAATTCTTCCCTTTTACTT___ATGAATGGACCAGGTAGTTTGTTTGCTTCAGAGAATTTCCTGGGAATTTCAAGTCAGCCTAGAAATGACTTTGGAAACTTTTTTGGAAGTGCAGTTACCAAACCATCTTCATCAGTGACTCCAAGACATCCCCTCGAAGGAACCCATGAATTGAGACAAGCTTGCCAGATCTGTTTTGTAAAATCAG___GCCCTAAGTTAATGGATTTCACTTACCATGCTAACATAGATCATAAGTGTAAGAAAGATATTTTAATCGGTAGGATAAAGAATGTTGAAGATAAATCATGGAAAAAAATACGTCCAAGACCAACAAAAACAAATTATGAAGGACCATATTATATATGTAAAG___ATGTTGCTGCTGAGGAGGAATGTAGATATTCAGGCCACTGCACGTTTGCTTATTGCCAAGAGGAGATAGATGTGTGGACACTGGAGCGGAAAGGAGCATTCAGCCGGGAGGCTTTCTTTGGCGGCAATGGAAAGATTAACCTTACTGTGTTCAAACTTCTCCAGGAGCATCTTGGGGAATTTATATTCCTTTGTGAG___AAATGTTTTGATCATAAGCCTAGAATGATAAGTAAAAGAAATAAAGATAATTCTACTGCTTGTTCTCACCCGGTTACAAAGCATGAGTTTGAAGACAATAA___GTGCCTTGTCCACATTTTGCGAGAGACAACAGTAAAATACTCCAAAATACGTTCTTTTCATGGTCAGTGTCAGCTTGATTTATGTCGACATGAAGTTCGGTATGGCTGTTTAAGGGAAGATGAGTGCTTTTATGCCCATAGTCTTGTGGAACTGAAAGTCTGGATAATGCAAAATGAAACAG___GTATCTCACATGATGCTATTGCTCAAGAGTCTAAACGATATTGGCAGAATTTGGAAGCAAATGTACCTGGAGCGCAG___GTACTTGGTAATCAAATAATGCCTGGATTTCTTAATATGAAGATAAAGTTTGTGTGCGCCCAGTGTCTGAGAAACGGTCAAGTCATTGAACCAGACAAAAACAGAAAATATTGTAGTGCAAAAGCAAGGCATTC___GTGGACCAAAGACCGGCGTGCGATGAGAGTGATGTCTATTGAACGTAAGAAGTGGATGAACATCCGTCCTCTCCCCACAAAGAAACAAATGCCTTTACAGTTTGAT___CTGTGCAACCATATTGCTTCTGGGAAAAAATGTCAATATGTTGGAAACTGTTCCTTTGCTCATAGTCCTGAGGAAAGAGAAGTTTGGACTTACATGAAGGAGAATGGGA___TACAAGATATGGAGCAATTTTACGAACTATGGCTCAAGAGTCAAAAAAATGAAAAAAGTGAAGACATAGCCAGTCAGTCAAACAAGGAAAATGGAAAACAAATTCACATGCCAACAGATTATGCTGAAGTTACA___GTGGACTTTCACTGCTGGATGTGTGGGAAAAACTGCAACAGTGAGAAGCAGTGGCAGGGCCACATCTCCTCCGAGAAGCACAAAGAGAAGGTTTTCCACACCGAGGACGACCAGTACTGCTGGCAGCACCGCTTCCCAACAGGCTATTTCAGTATTTGTGATAG___GTATATGAATGGCACCTGCCCAGAAGGAAACAGCTGTAAATTTGCACATGGAAATGCCGAACTTCATGAATGGGAAGAAAGAAGAGATGCCCTAAAGATGAAGCTCAACAAAGCACGAAAAGATCACTTAATTGGCCCAAATGATAATGACTTTGGAAAATATAGTTTTTTGTTTAAAGATTTAAACTAATATGCTGGCTTTTATGTATGATACCTAATCAGAGCATTGACCAGAAAAATTGAAAGTGTTCTGAGGCACATAGCAGAGGAGCTGCAGATTTCCTGCTTGTATTGGCGTATATCGTTCCTCCTGAGCAGCAACCCACAGTAGGTAGGAAAATGGGCTGTTTCACAGGCCTGGCCACGCTCTCACGGAACCACTGGCATCAGATGGTGAAGTGACTGCTACCCGGTTGCCATCTGTTGAACAGACTTTTGGATGAAGTGTGTTGGGGAAGAGGATAAGGTTATATCTAGGACAACTCTTTGAGTTGGTCCTTCATATAAGAATCGTGACGGTAAGAGAATAAACACTTGTACTGGGATCAGAATACATGATGGATGAAATTCTTTACATGTTTTAGCAGAATGAATTTGTTTAATATAATAAAGTTTGCTACTTATCTGTATGTAGGTTGCTAAAAAGGATTTTCTTAACTCAGATTTTAAGCCAAATAACCATTTAACACTAGTATTTGTTAAATGGGGTATTTTTCTGTATTTGTATGTTTCACTATAATAAGGGAATTAAGGATAATGTGCATTGAGAATATTTTGAAAAATAATTGACTCAAATTTTATTTCTTGGTCTTTTGCTGTTTAAATGATGATTTTGAAAGATTAAACCTGTACTGTTGGTATTGTGTTAGTGTATGGACCAATACTGCCTGTAATAAAGATTTTATATATA)$ . 11BR028 ENSG00000213853.10 ENSG00000122299.12 -/- -/+ chr16:10580549 chr16:11791502 5'UTR/splice-site intron inversion/5'-5' 0 4 0 450 18 medium . . . . . ENSG00000213853.10 ENSG00000122299.12 ENST00000359543.8 . upstream upstream . ^ACCCCCAGCCAGTCCGTCGATCCAGCTGCCAGCGCAGCCGCCAGCGCCGG|GTACCTGCTACTTCTCATGCTTCATTGTAAGAACAAGATCTGGGTCCAGCTCAACAAATACTTGAACAAAGAATGAAGTAAGCAGCCCAGTGTAAAGAGAATGCCTCATACAAAGTTCAGAGGCCCAGGAGATAGAAGCTGGTAAAACCATTCACAAGAAGCA . 11BR028 ENSG00000213853.10 ENSG00000262117.5 -/- -/- chr16:10580549 chr16:11820297 5'UTR/splice-site exon/splice-site duplication 2 6 0 450 41 high . . . . . ENSG00000213853.10 ENSG00000262117.5 ENST00000359543.8 ENST00000573319.1 upstream downstream duplicates(1) ^ACCCCCAGCCAGTCCGTCGATCCAGCTGCCAGCGCAGCCGCCAGCGCCGG|CAAAAAATCACCATGTACCAACCTATCCAAACTTATCCATGGATGAATCTATCCAGAAGACGGGAGTTCCGATGCTTGTCTTGCTCTGAATGTCTGCTTGTCACCTGCTTAGGGTTATCGACTGTGATTCTGGGACTCATTGTTGTTCTACAGGACCCC(TCTGACTCTGTGGTTTTCTCTACTGGATTAACAATGATAGCCATAGGTGCTTTTTTTGTTGTCCTCACTGGAGTGACAGCCCTGTGTACGGTTACAGTCGACGAGAACTTGCAGAAAACCACGAGGCTAAGACTAGGAGTGATACGAAAAAGCGGAAGTCTCCAAGGAACTACAGAGCCTTCCATGACTCACTCAATAATCGCTAGCACCTCGCTGTAGTTGTACATTGAACCCTGGCATCTTCGTCTTTGGAACTAAGTCTCCTGAGCATTGTTTTTAAATAGAAATA)$ . 11BR028 ENSG00000213853.10 ENSG00000262117.5 -/- -/- chr16:10580549 chr16:11821755 5'UTR/splice-site exon/splice-site duplication 2 5 0 450 11 high . . . . . ENSG00000213853.10 ENSG00000262117.5 ENST00000359543.8 ENST00000573319.1 upstream downstream duplicates(1) ^ACCCCCAGCCAGTCCGTCGATCCAGCTGCCAGCGCAGCCGCCAGCGCCGG|GGTCTTGTCCTGTCACTCTGGCTGGAATACAATGGCGTAATCATAGCTCACTGCGGCCTCCATCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCAAGTATCTGGGACTACAG___CAAAAAATCACCATGTACCAACCTATCCAAACTTATCCATGGATGAATCTATCCAGAAGACGGGAG(TTCCGATGCTTGTCTTGCTCTGAATGTCTGCTTGTCACCTGCTTAGGGTTATCGACTGTGATTCTGGGACTCATTGTTGTTCTACAGGACCCCTCTGACTCTGTGGTTTTCTCTACTGGATTAACAATGATAGCCATAGGTGCTTTTTTTGTTGTCCTCACTGGAGTGACAGCCCTGTGTACGGTTACAGTCGACGAGAACTTGCAGAAAACCACGAGGCTAAGACTAGGAGTGATACGAAAAAGCGGAAGTCTCCAAGGAACTACAGAGCCTTCCATGACTCACTCAATAATCGCTAGCACCTCGCTGTAGTTGTACATTGAACCCTGGCATCTTCGTCTTTGGAACTAAGTCTCCTGAGCATTGTTTTTAAATAGAAATA)$ . 11BR028 ENSG00000103356.17 ENSG00000185947.15(8336),ENSG00000261289.2(26467) -/- ./- chr16:23529502 chr16:31925693 CDS/splice-site intergenic duplication 3 4 0 82 5 high out-of-frame . tRNA_synthetases_class_I_(E_and_Q)__catalytic_domain(100%)| . . ENSG00000103356.17 . ENST00000449606.7 . upstream downstream . ^(ATCCCACATGGCGGCGCTCCTGAGGAGACTGCTGCAGCGCGAGAGGCCTTCGGCGGCCTCTGGCCGCCCCGTAGGACGGCGCGAGGCCAACCTGGGCACTGATGCCGGGGTTGCGGTGCGAGTGCGGTTCGCTCCCAGCCCCACAG___GCTTCTTGCACCTGGGTGGCCTCCGCACTGCCTTGTACAACTACATCTTTGCTAAGAAGTACCAGGGGAGCTTCATCCTGAGGCTAGAGGACACAGATCAGACTCGCGTTGTGCCTGGGGCAGCGGAGAATATTGAGGACATGCTGGAGTGGGCAG___GCATCCCGCCTGATGAGAGCCCCCGCCGGGGCGGTCCTGCTGGGCCCTACCAGCAATCTCAGCGGTTGGAGCTGTATGCCCAGGCCACAGAAGCGCTGCTGAAGACCGGAGCTGCTTACCCCTGTTTCTGCTCACCCCAGCGGCTGGAGCTCCTGAAGAAGGAGGCCTTGCGGAACCACCAGACGCCCCG___GTATGACAATCGGTGCAGGAACATGAGCCAGGAGCAGGTGGCCCAGAAGCTGGCCAAGGACCCCAAGCCTGCGATCCGCTTCCGCCTGGAGCAGGTGGTGCCAGCCTTCCAGGACCTGGTCTATGGCTGGAATAGGCATGAAGTGGCCAGCGTGGAGGGAGACCCAGTCATCATGAAGAGCGACGGCTTCCCCACATACCACCTGGCCTGCGTGGTGGACGACCACCACATGGGCATCAGCCACGTGCTGCGAGGCTCTGAGTGGCTCGTCTCCACTGCCAAGCACCTGCTCCTCTACCAGGCCCTGGGCTGGCAGCCACCCCACTTCGCCCACCTGCCCCTGCTCCTCAACAGGGATGGCAGCAAGCTCTCCAAGAGGCAAGGGGACGTTTTCCTGGAGCACTTTGCTGCTGATGGCTTCCTGCCCGATTCCTTGTTGGACATCATCACCAACTGTGGCTCAGGTTTTGCAG___AGAACCAAATGGGCAGGACCCTGCCGGAGCTGATCACACAGTTCAACCTGACACAGGTCACCTGTCACTCAGCCCTGCTGGACCTGGAGAAGCTCCCAGAATTCAACAG___ACTGCACCTCCAGCGGCTGGTGAGCAATGAGAGCCAGAGGCGCCAGCTGGTGGGGAAGCTGCAGGTCCTTGTGGAGGAGGCCTTTGGTTGCCAG)CTGCAAAACAGGGATGTCCTCAACCCAGTCTACGTGGAGAGGATCCTCCTGCTGAGACAG___GGTCACATTTGCCGCCTGCAGGACTTGGTGTCCCCAGTATACTCTTACCTGTGGACTCGCCCTGCAGTAGGTCGAGCACAGCTGGACGCCATCTCGGAGAAGGTGGATGTGATTGCCAAGCGTGTGCTGGG|CTATAAACCTTGAAAATCACACAGGAAGCCTTGAAAGGAGAGCTCTGAAAGGTGGTATGAAGAAGACAGTCTGCTTAAGGACTCCAGAACTGAAGGAATTGTTTTGTGGCAATGCATGTTATTCCCCTAACTCAACTGAGAAAAAaAGAGACCAACACTTAGTGTTTTTCAATCCCCCAGATAACAAGAAAACACAGCCCAATAAACTTATTTCTTCCCTGATAGAGGACTTTATCCAACAACAGAAGAC MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQTRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMGISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAENQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVERILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVLg|ykp* 11BR028 ENSG00000008294.21 ENSG00000224162.1 -/- +/- chr17:51120354 chr10:43732379 CDS/splice-site exon translocation/5'-5' 3 4 0 365 8 high out-of-frame . JNK_SAPK-associated_protein-1(100%)| . . ENSG00000008294.21 ENSG00000224162.1 ENST00000262013.12 . upstream downstream . ^(GGCAGTTGGTGCAGCGGCGGTTGGGGTGAGAGCGCCTACGCCACCCCTCCCCTCCTCCGGCCCCGGCCCCCACCCCGCCGGGCCCAGCCCCAGCCCCGGCCCGGGCTCCAGCCCTAGTACCCGTCCCAGCCCGAGTCGGGTCCGTCCCGTGCGGGCAGGTGCCGCCCCTCTGCCGGCGACGCCCCGGGCCGCCCGCCCGTCCGCTTGCCACCATGGAGCTGGAGGACGGTGTGGTGTATCAGGAGGAGCCCGGCGGCTCCGGGGCCGTGATGTCGGAGCGGGTGTCCGGCCTGGCCGGCTCCATCTACCGCGAGTTCGAGCGGCTTATCGGGCGCTATGACGAGGAGGT)GGTCAAAGAGCTGATGCCGCTGGTGGTGGCTGTGCTGGAGAACCTGGACTCGGTGTTCGCGCAGGACCAGGAGCACCAGGTGGAGCTGGAGCTGCTGCGGGACGACAACGAGCAGCTCATCACCCAGTACGAGCGGGAGAAGGCGCTGCGCAAGCACGCTGAGGAG|GATCTCAGGACCTGCTCAGCATCTTTTGCTCATCCTCCAGTCCCATGTCTGGCTACGGTTCCAGAGTCAATATGAGCAGCAACAGCGGCACCTAATTGACTTCAGGATCAAAAAGGACTTGAATATTTTGTTTTGTTTTTTATTTCTCTGTTTTCTTTTACTTGCTTTGCTGTGGGTTACTTGAACTTTCAGAATTCTATTTTGCTTTATACTGTTTTTGAATGTGCAGC MELEDGVVYQEEPGGSGAVMSERVSGLAGSIYREFERLIGRYDEEVVKELMPLVVAVLENLDSVFAQDQEHQVELELLRDDNEQLITQYEREKALRKHAEE|dlrtcsasfahppvpclatvpesi* 11BR028 ENSG00000112200.17 ENSG00000214883.4(376988),ENSG00000237610.1(3792176) +/+ ./- chr6:57099141 chr11:50799304 CDS/splice-site intergenic translocation 5 1 0 54 1 high out-of-frame . . . . ENSG00000112200.17 . ENST00000357489.7 . downstream downstream . ^(GGAAGCCCGGGAGTGAGAGAAAGCGGCTCCGGGGGCATAGCGGGCCAGTAAGGGCCGCTCCTCCTTTGAAGAGGTTTTGCGTCTCTTTCCGCCGGTGGCGTCGGCGCTCACGCAGGGGCGGGTCCCGGTAGCGCCAGGCGGTGCAGGGCGGGAAGGGGATTCGTGGCGACGGCGGCGGCAGGGACAGCAGGAGCAGTGGTGCTGTCAGCGCGGCCGTCGGAGACATGGGAGACCCGGGGTCGGAG___ATAATAGAATCTGTCCCTCCAGCTGGCC)CTGAGGCATCTGAGTCAACAACGGATGAAAATGAAGACGACATTCAGTTTGTCAGT___GAAGGACCATTACGACCTGTTCTTGAATACATTGATCTGGTCAGCAGTGATGATGAAGAGCCTAGCACCTCTTATACTGAT|AATCTGCTGCTGGATGTTTGGAGAaCTTTGAGGCCTACAGTGGAAAAGGAAATATCTTCACATAAAAACTACACAGAATCATTCTGAGAAACTTCTTTGTGAAGTGTGCATTCAACTCACAGAGTTGAACTTGTCTTCTCATTGAGCAGTTTTGAATCTCTCTTTTTGTAGAATCTGCAAGTGGATAATTGGAG MGDPGSEIIESVPPAGPEASESTTDENEDDIQFVSEGPLRPVLEYIDLVSSDDEEPSTSYTD|nllldvwrtlrptvekeisshknytesf* 11BR028 ENSG00000121067.19 ENSG00000186075.12 -/- +/- chr17:49668027 chr17:39876917 5'UTR/splice-site 3'UTR deletion/5'-5' 5 1 0 22 14 high . . . . . ENSG00000121067.19 ENSG00000186075.12 ENST00000514121.6 . upstream downstream . ^(ATGACGCCCCGGCTGGTGTGTGTCGGTGTGTATGTGTGTGTGTGAGTGTGCGCGCTCCGAGTGTGTGTGTATTTGTGTATCGGCGGTCCCGCAGGTCCCGGATGTTGCGGACAGTATGAGGCAAGCGCAGGGGGACGGGGACCAGCAGCTGTCGCCGCCGCTCTCAG___ATCGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCCACCTTTGCCTCCTGGGTTCAA)GCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG___GCTCTGGGAACCACCCTTCTACTTTCTGTCTCTAGGAATTTCACTACTCTAG|TGGTTTGGTCTTACTGATTTTACTTAATGGAACTATCTATGATGCTCTGGGATGTGAAAATCATCTTATGTCCCCGACTTCCACAA___ACAGAATCTCTCTGTTGCC . 11BR028 ENSG00000101158.15 ENSG00000238004.1(15101),ENSG00000223290.1(114486) +/+ ./- chr20:58981369 chr2:154475921 CDS/splice-site intergenic translocation 2 3 0 43 11 high out-of-frame . . . . ENSG00000101158.15 . ENST00000602795.6 . downstream downstream . ^(GAGGCGCGCGGCCGCGCGTGCGCCCGCCCGCCCGTCCCCGCCTCGCGCATGCGCCGCGCTCGCTCGCGGGAGG)GCATGGCGGGGGCCGTGCCGGGCGCCATCATGGACGAGGACTACTACGGGAGCGCGGCCGAGTGGGGCGACGAGGCTGACGGCGGCCAG|ATGGTGTCAGAAGTGGAATCCAAAGAAGAGCTAACAACCCCCAGGAGCGCTGAGCGTGGTTCCCACTCGGCCCATTGTGCCCATTGCTCTCTTGGAGCAGCTGGGGATCGTGG MRRARSREGMAGAVPGAIMDEDYYGSAAEWGDEADGGQ|mvseveskeelttprsaergshsahcahcslgaagdr 11BR028 ENSG00000170921.15 ENSG00000236319.2(55948),ENSG00000166292.12(102102) +/+ ./+ chr17:63314669 chr17:55617525 CDS/splice-site intergenic duplication 4 1 0 115 4 high out-of-frame . . . . ENSG00000170921.15 . ENST00000424789.6 . downstream upstream . ^(AACCATGTTTCGGAATAGTCTCAAGATGCTGCTTACTGGTGGGAAATCAAGTCGTAAAAACAGGTCAAGTG___ATGGAGGGAGCGAGGAACCACCGGATCGAAGACAGTCAAGTGTAGACTCTCGCCAAAGCCGCTCTGGGCAAG___GTGGCATCTCCACAGAAAGCGACTGTGCTTTTGAGCCAGACTACGCTGTCCCGCCACTTCCAGTGAGTGAAG___GTGATGCTGAACAGGAGCTTGGCCCCCCTCCATCTGTAGATGAGGCAGCAAACACACTCATGACTCGTCTGGGTTTCCTCCTTGGAGAGAAAGTCACAGAAGTTCAGCCAGGTGACCAATACAGCATGGAAGTACAGGATGAAAATCAG___ACCTCAGCAATCACCCAGCGGATAAGTCCTTGTTCCACTCTGACTAGCAGCACTGCCTCTCCACCAGCCAGTAGCCCCTGCTCTACACTCCCACCCATCAGTACAAATGCAACTGCCAAGGACTGCAGCTATGGGGCTGTTACTAGTCCAACCTCTACCCTTGAAAGCAGAGATAGTGGCATCATTG___CTACATTAACAAGCTATTCTGAAAATGTGGAACGCACAAAATATGCTGGGGAAAGCAGTAAAGAATTAGGATCTGGAGGAAACATAAAACCTTGGCAGTCTCAAAAATCCAGCATGGACTCCTGTTTGTATCGAGTAGATGAAAACATGACTGCTTCCACCTATAGTCTGAATAAGATCCCAGAGAGAAATTTGGAAACAGTGTTATCTCAATCAGTACAGTCTATTCCTTTGTATCTCATGCCACGGCCAAATTCAGTAGCAG___CCACCAGCTCTGCCCACTTGGAAGACCTTGCTTACCTGGATGAGCAGAGACATACACCTTTGAGAACTTCTCTACGAATGCCAAGACAGAGCATGGGTGGTGCTCGCACACAGCAGGATTTAAGAG___TTCGCTTTGCACCTTATAGGCCTCCAGATATCTCCTTGAAGCCTCTGCTCTTTGAAGTGCCCAGCATCACTACAGAGTCAGTGTTTGTTGGCCGAGATTGGGTTTTCCACGAAATAGATGCTCAACTTCAAAG)TTCAAATGCCAGCGTGAACCAAGGAGTAGTGATTGTGGGAAACATTGGATTCGGCAAAACTGCCATCATCTCCAGACTGGTGGCCCTCAGCTGCCATGGTACAAGGATGAGACAGATCGCCTCAGACAGCCCACATGCCTCCCCCAAAC|ACACCACCGGCTTTGCTCCATCCCTTTGGGAAGACAGCACACCCAGAGCTCAAGTCTGCTGCTCATTCTGGAAGGGG MFRNSLKMLLTGGKSSRKNRSSDGGSEEPPDRRQSSVDSRQSRSGQGGISTESDCAFEPDYAVPPLPVSEGDAEQELGPPPSVDEAANTLMTRLGFLLGEKVTEVQPGDQYSMEVQDENQTSAITQRISPCSTLTSSTASPPASSPCSTLPPISTNATAKDCSYGAVTSPTSTLESRDSGIIATLTSYSENVERTKYAGESSKELGSGGNIKPWQSQKSSMDSCLYRVDENMTASTYSLNKIPERNLETVLSQSVQSIPLYLMPRPNSVAATSSAHLEDLAYLDEQRHTPLRTSLRMPRQSMGGARTQQDLRVRFAPYRPPDISLKPLLFEVPSITTESVFVGRDWVFHEIDAQLQSSNASVNQGVVIVGNIGFGKTAIISRLVALSCHGTRMRQIASDSPHASPK|httgfapslwedstpraqvccsfwk 11BR028 ENSG00000160551.11 ENSG00000285939.2 +/+ -/- chr17:29451680 chr17:54066822 CDS/splice-site exon/splice-site inversion 3 2 0 116 8 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000160551.11 ENSG00000285939.2 ENST00000261716.7 ENST00000652614.1 downstream downstream . ^(CTTACCAGGGGTGGTGTTGGTGGCGGAGGGCTGCGCGTGGGCCCGCCCGCCGAGGGGCCGCGGCGGGGGACCGAGAGGGCCTCGGCTGTGTGAGGACTAGAGGCGGCCGAGGCCCGGGCCGGTTCCCCCGAGGCGGCGACGGAGACGGCTCCCGGCACTTCCCCGCGCCATCTTAACTGAGCCCAAGCGCTGAGGGCGCCTCCTCGACCCCGGTCGTCCCCTCGCCCCCCCCCCCACCCCCCGCCGCCGCCGCCCCTTGTTGCAGAGCTTGGGCTGGGCGGCTTGCTGGGGCTCGGGGGTGGGGGGCGGCGATCTGTCGCCGGGCCCCCTCCTCCTCCTCACTCCTCACCCTCCAGGGTAGCGGCTACCGGAGCGCTGCAGGGGGCTGCGCCTGCCTGCTCCGCCCCAGACCTGTCGGCGAAAGG___TAGTTTATGCCAACGTGACTTCATTCATACAGATGAACCAAGGATCGGGATAGCAGTATAAAATTAGAATCAAGACAGCTGACT)GCTCAGCAGGATGCCATCAACTAACAGAGCAGGCAGCCTGAAGGACCCTGAAATTGCAGAGCTCTTCTTCAAAGAAGATCCAGAGAAGCTCTTCACAGATCTCAGAGAAATTGGCCATGGAAGCTTTGGAGCAGTGTATTTT|GTCATTGGGTCAAGGTTTTGGCCAGAGAATAGCAAGGATGACTTATCTCTGCTCCACTATGTCTGGAACCTCTTGGAATCATTTGGAGTCTTCTTCACTCTCTTGCCTGGCACCTGGACTGGGAAAACTTGGAACCCACTGGGACTGTTGAC(CAAAGCACAAACATGTGGCCTCTTCATGTGGCTTGGGCTTTCCACAGCATGGAGGCTGATTTCTGAGGAGAGGCCCAAAAATAATATACACAAAGTAAGTATTTCACAAGATCTAAGCATAAGCAACATGATCTTTGATAACCTAGTCTATGAGGTCCCATAGGATCACTTCACCCATATTTTATTGGTTAAAGAAGTCATTCAGATTCATAGGGTAGAGATATAGAACACTGTCTCTCAGTGGGACAAATACCAAGAAATTTGGGATCACTTTTTAAAAACCTACACATAGACAGAAGCAAAGTAATAAAGGGTCTTTTAAACCATCATACAGAGTTTAATTTTAATCTAATTGCAATAAGAAGCCATTGCAAACTTTCAAGTAGGACATTATGATGTACGAACAACTGACTTAAGGGACTTTAACTTTATTCCATTGCATAATAAACACTTAAAAAAATACCAAGAAGGAATTTCATAAAATCTTGCTAATGACCATCAATTAAAGGAGAGGAGGCTCATGTTACTTCCTATTTTTTTTCAAACAACATGCCATAACCAATATTTTGAAAAAATATATTGTGTTAGGCCAGGCATGGTAGCTCATGGCTGTAATTCCAGCACTTTGAGAAGCCAACGTGGGAGAATATTTTCAGTTTAGGAGTTCAAGACCACCTGGGCAACATAGTGAGAACTCATCTTTAATTAAAATGGAAAAAAAA)$ MPSTNRAGSLKDPEIAELFFKEDPEKLFTDLREIGHGSFGAVYF|vigsrfwpenskddlsllhyvwnllesfgvfftllpgtwtgktwnplglltkaqtcglfmwlglstawrliseerpknnihkvsisqdlsisnmifdnlvyevp* 11BR028 ENSG00000204277.1(27704),ENSG00000267737.1(9533) ENSG00000167880.8 ./+ -/- chr17:78306196 chr17:76011882 intergenic CDS/splice-site inversion 1 3 0 20 36 high . . |Plectin_repeat(100%) . . . ENSG00000167880.8 . ENST00000301607.8 downstream downstream . CGGAGAAGCTCATGTAAAGAGGAACTGAGGCCACCAGCCAtCAGCTGCATGAATGAGCCACCTTAGAAGCGATCCTCCAGCCCCAGTCAAGCCTTCAGATGACTGCAGCTCTGACCACCATCTCACTGCAGCCTCATGAGAGACCTCAGGCCAGAACCACCCAGCCAAACCACTCTTGAATTCCTGACCCACCAAAACTGTGAGAG|GACTATGAGCTCCAGGCAGACACCTACCGCTGCTCTTTGGAGCCCACCCTGGCAGTGTCAGCCCCCAAGAGACCCCGAGTGGCTCCCCTGCAAGAGAGCATCCAAGCCCAG(___GAGAAGAACCTTGCAAAGGCCTATACTGAGGTTGCAGCAGCACAGCAGCAGCTGCTCCAGCAGCTGGAGTTTGCTAGAAAAATGCTGGAGAAG___AAGGAGCTCAGTGAGGACATCCGAAGGACCCATGATGCAAAGCAGGGCTCCGAGAGCCCTGCCCAAGCAGGGAGAGAGTCAGAGGCCCTGAAGGCCCAGCTGGAAGAGGAGAGGAAGCGGGTGGCCCGGGTGCAGCATGAGCTGGAGGCGCAGAGGAGCCAACTGCTGCAGCTGAGGACCCAGCGGCCCTTGGAGAGGCTGGAGGAGAAGGAAGTGGTAGAGTTCTACCGGGACCCCCAGCTGGAGGGCAGCCTGTCCAGGGTGAAGGCCCAGGTGGAGGAGGAGGGCAAGCGGCGGGCTGGCCTGCAGGCAGACCTGGAAGTGGCAGCCCAGAAGGTCGTGCAGCTGGAAAGCAAGAGGAAGACCATGCAGCCTCATCTGCTGACCAAGGAGGTCACCCAGGTGGAGAGGGACCCCGGCCTGGACAGCCAGGCGGCCCAGCTCAGGATCCAGATCCAGCAGCTCCGCGGGGAGGATGCCGTCATCTCGGCCCGGCTGGAAGGGCTGAAGAAGGAGCTACTGGCCCTTGAGAAGAGGGAGGTGGACGTGAAGGAGAAGGTCGTGGTGAAAGAGGTAGTCAAGGTGGAGAAGAATCTGGAAATGGTCAAGGCAGCCCAGGCTCTGAGGCTGCAGATGGAGGAGGATGCTGCGCGGAGGAAGCAGGCGGAGGAGGCTGTGGCCAAGCTACAGGCTCGCATCGAAGACCTGGAGCGGGCTATCAGCTCGGTGGAGCCCAAGGTCATCGTGAAGGAGGTGAAGAAGGTGGAGCAGGACCCAGGGCTCCTCCAGGAGTCCTCCAGGCTGAGGAGCCTCCTCGAGGAGGAGAGGACCAAGAACGCGACGCTGGCCAGGGAGCTGAGCGACCTGCACAGCAAGTACAGCGTGGTGGAGAAGCAGAGGCCCAAAGTGCAGCTCCAGGAGCGCGTCCACGAGATCTTCCAGGTGGATCCGGAGACAGAGCAGGAGATCACTCGGCTCAAGGCCAAGCTGCAGGAGATGGCGGGCAAGAGGAGCGGTGTGGAGAAGGAGGTGGAGAAGCTGCTGCCCGACCTGGAGGTCCTGCGGGCCCAGAAGCCCACGGTGGAGTACAAGGAGGTGACCCAGGAGGTGGTGAGGCATGAGAGGAGCCCCGAGGTGCTGCGTGAGATCGACCGCCTGAAGGCTCAGCTCAACGAGCTCGTCAACAGCCACGGGCGCTCCCAGGAGCAGCTCATCCGCCTGCAGGGTGAGCGCGACGAGTGGAGGCGCGAGCGGGCCAAGGTGGAGACCAAGACGGTGAGCAAGGAGGTGGTGCGCCACGAGAAGGACCCGGTGCTGGAGAAAGAAGCAGAGCGGCTCCGCCAGGAGGTGCGGGAGGCGGCCCAGAAGAGGCGGGCCGCGGAGGACGCGGTGTACGAGCTGCAGAGCAAGCGCCTGCTGCTGGAGAGGAGGAAGCCCGAGGAGAAGGTGGTGGTGCAGGAGGTGGTGGTCACCCAGAAGGACCCGAAGCTGCGCGAGGAGCACAGCCGGCTGAGCGGGAGCCTGGATGAGGAGGTGGGCCGGCGGCGCCAGCTAGAGCTTGAGGTGCAGCAGCTGCGGGCCGGCGTGGAGGAGCAGGAGGGCCTGCTCAGCTTCCAGGAGGACCGCAGCAAGAAGCTGGCCGTGGAGAGGGAGCTGCGGCAGCTGACCTTGAGGATCCAGGAGCTCGAGAAGCGGCCTCCCACGGTGCAGGAGAAGATCATCATGGAGGAAGTGGTCAAGCTGGAGAAGGACCCGGACCTGGAGAAGTCCACGGAAGCCCTGCGGTGGGACCTGGACCAGGAGAAGACCCAGGTAACCGAGCTGAATCGGGAGTGCAAGAACCTGCAGGTCCAGATTGACGTCCTCCAGAAAGCCAAATCGCAGGAGAAGACCATCTACAAGGAAGTGATCCGGGTGCAGAAGGACCGCGTCCTGGAAGATGAGCGGGCCCGCGTGTGGGAGATGCTCAACAGGGAGCGCACGGCCCGGCAGGCCCGGGAGGAGGAGGCACGGCGCCTGCGGGAGCGCATTGACCGGGCCGAGACGCTGGGGAGAACCTGGTCCCGGGAGGAGTCCGAGCTGCAGAGGGCCCGGGACCAGGCCGACCAGGAGTGTGGGCGGCTGCAGCAGGAGCTGCGGGCTCTGGAGAGGCAGAAGCAGCAGCAGACACTGCAGCTGCAGGAGGAGTCGAAGCTGCTCAGCCAGAAGACGGAGAGCGAGCGACAGAAGGCGGCCCAGCGGGGCCAGGAGCTCTCGCGGCTGGAGGCGGCCATCCTCCGCGAGAAGGACCAGATCTACGAGAAGGAGCGGACGCTCCGGGACCTCCACGCCAAGGTGAGCCGGGAGGAGCTCAGCCAGGAGACCCAGACGCGAGAGACCAACCTTTCCACCAAGATCTCCATCCTGGAACCCGAGACGGGGAAGGACATGTCCCCATACGAGGCCTACAAGAGGGGCATCATCGACAGGGGCCAGTACTTGCAGCTGCAGGAGCTCGAGTGTGACTGGGAGGAGGTCACCACCTCGGGGCCCTGTGGGGAGGAGTCTGTGCTCCTGGACCGCAAGAGCGGGAAGCAGTACTCCATCGAGGCCGCCCTCCGCTGCCGGCGCATCTCTAAGGAGGAGTACCATCTGTACAAGGACGGCCACCTGCCCATCTCCGAGTTTGCGCTGCTTGTAGCTGGGGAGACCAAGCCAAGCTCCTCACTCTCCATCGGCTCTATCATCTCCAAGTCCCCGCTCGCCTCCCCGGCCCCCCAGAGCACCAGTTTCTTCTCTCCCAGCTTCTCTCTCGGGCTCGGTGATGACAGCTTCCCTATCGCCGGGATCTATGACACAACCACAGACAACAAGTGCAGCATCAAGACGGCCGTGGCCAAGAACATGCTGGACCCCATCACTGGGCAGAAGCTACTGGAGGCCCAGGCGGCCACAGGGGGCATCGTGGACCTGCTCAGCCGTGAGCGCTACTCTGTGCACAAGGCGATGGAGAGGGGCCTGATCGAGAACACCTCCACACAGAGGCTGCTTAACGCCCAGAAGGCCTTCACCGGCATCGAGGACCCCGTCACCAAGAAGAGGCTCTCGGTGGGCGAGGCCGTCCAGAAGGGCTGGATGCCCCGGGAGAGCGTGCTCCCACACCTGCAGGTGCAGCACCTGACCGGGGGGCTCATCGACCCCAAGAGGACAGGCCGCATCCCCATCCAGCAGGCCCTCCTCTCCGGGATGATCAGTGAAGAGCTGGCCCAGCTCCTGCAGGACGAGTCCAGCTACGAGAAGGATTTGACAGACCCCATCTCCAAGGAACGGCTGAGCTACAAGGAGGCCATGGGCCGCTGCCGCAAAGACCCCCTGAGCGGCCTGCTGCTCCTGCCAGCGGCACTGGAGGGGTACCGCTGCTACCGCTCCGCCTCCCCCACCGTCCCGCGCTCCCTTCGCTGACACGGGCCAAGGAGCCAGTGGGGAAGTGCGTGTGTTGGGCCAGGTAGGATACGTACACCTCTTGCCTCAGAGCAGCCTCATCCCAGGCAGTGGGTCTTCCCTCTGTCCAACCACTGTTTTATTATTTTACTAACATGGTGATGGGCTCCCTCCCCTAACCTTGGTGCCTGATCCATCCCCAGACCAGGACAGCAGCCACTCAGTTCTTCCTCCACCTCCACCCAGTGATCCCAATAAACGAATTCTGTCTCCCCGTGC)$ . 11BR028 ENSG00000132300.19 ENSG00000115486.12 +/+ -/- chr2:86108536 chr2:85550126 CDS/splice-site CDS/splice-site inversion 1 2 0 62 42 high in-frame . . . . ENSG00000132300.19 ENSG00000115486.12 ENST00000254630.12 ENST00000233838.9 downstream downstream . ^(AGAGAAATCAAAGATGGCGGTTGTAT)CTGCTGTTCGCTGGCTGGGCCTCCGCAGCAGGCTTGGCCAGCCGCTGACGGGTCGGCGGGCGGGTTTGTGTGAACAGGCACGCAGCTGCAG___ATTTTATTCTGGTAGTGCAACCCTCTCAAAGGTTGAAGGAACTGATGTAACAG___GGATTGAAGAAGTAGTAATTCCAAAAAAGAAAACTTG|CTTCCTGATGACTTGTATCTCACTTCGAAATCTGATATTAGGCCGTCCTTCCCTGGAGCAGCTGGCCCAGGAGGTGACTTATGCAAACTTGAGACCCTTTGAGGCAGTTGGAGAACTGAATCCCTCAAACACGGATTCTTCACATTCTAATCCTCCTGAGTCAAATCCTGATCCTGTCCACTCAGAGTTCTGAAG(GGGGCCAGATGTTGGGTGCAGATGTAGAAGCAGCCAGTCACAGACCCATTCTATGCAATGGACATTTATTTGAAAAAAATTCTCAAAAGTTTTTTTTTTTTTTTTGGGGGGGCGGGGTTCTAAAGCTGTTTTTAACTCCGAGATTACAACTTAGAGGAACCAAGGAAATAAAGCAAATAAGATTTAACAACCCAAGATTAAGAGGCCAGGAAGAGGTTAGACGCAATGTGAAACTGTCCTCCTAGGATAAGGTTTAAAGTGGCTTTTTGGGGGCTGGGTGCCGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGTGGGTGCCTGTAATCCAACTACCCAGGAGGCTGAGGCATGAGAATCGCTTGGGCCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGAGCCACTGCACTCCTGGGCAACAGAGCAAGACTTCGTCTCAAAATAAATAAATAAAGTGGCTCTTGGGGAAAAGCAATTTAATGTACCACGATGAATAGCTAACTGTTCCCAAGTGTTTGCTATGTGCAACACACCGCGTGAGCAGTGTTACCTGCATTATTACATTAGGCTGAGAGGTAAAATAATTTGCCCGAAGACATACAGCTAGTGACGAATGGACTGATGGTTTGAACTTAACGTCTATTTGACTTAAGGTCCTGCACCCTGCCACTTGTAATTTTCAGAATCACTGATAATCTGAAATAATGCAGCTTAAAACATGTTTTCTTAATTAAAAGTATAATTGGATGGTGGTCAGGTTGTAAATGCACACAAAGTAATTTATCTTCATTGCAATTTTGGTTCCTTCTTTGTTCCTATTATCTATATACACCCAGTGTTTCACTAGCAGTTATGAGAGCAGTCAGAATAGCAGCATCAAAGTTAAATAAGGAAATCTAGATGATTGCTAGATTTTCTCTAAAAATAAGCTTAGTATTTGGTATTATTCTAGCCTTTGGTGAGCAGAAGGGGAGGTAAAGTAAGAATTAACTAAATTTAGTAAGGGATTAGGGAATGCTTAGACATTTTGTAGGTTGGGGTATACAAGGGTAACTCAGGAAGCTCCTCAGTTCAGTGAAAATTCAAAGGGTTGGCACTGAGCTAGGAAGCGAGAATGCAGGGTTATGAAAAAGGATCCCTGCTTTGGGAGCTCATGGACTTGTAGCAGAGACCGGTAGTAAATTGGCAGTCTCAGTAACTTCTGTAAATGATTGCATCTCTTTGCAGGCTTCTCTTCCCATACTCTCCCCCACTCCTCCTTGGACAGTGTTCCGGGGGTTCTTTCCTAAGCAACTGCTTTTTCAGTATACATACTTCAGATGATTGTGTCTACTCCAGGATTTCCAACGATGCTAGGTTTCTTTCCTGTGCCCTAGACGTATAGGTCTAAGTTCCACCTGGATATCCCACAGGGCTATCAAGCTCAGTTCATCCTAAACAGAACTTACATTCATCCCCAACTCAGACTTCCTTATTCTTTATTATTGAATGGCAGCTCTGTACCTTAGCCAAGCTGTTATCTCTAGGTCATCAGCCTTGACTCTTCCTTTTTCCTTGCATTTCTTAAAATTGCCAAGTCCCATCAATTTTACCTCCTGGATACCTCTTGAATCTATTTTTTTTTAAAGACAGGGTTTCACTCTATCACCCAGGCTGGAGTTCAGTGGCACAATCTTGGCTTACTGCAGCCACCACCTCCTGGGTTTAAACGATTCTTCCACTTCAGCCTCCCATGTAGCTGGGACTACAGGTGCCCACCACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGACATGGTTTCCCACATTGGCCAGGCTGGTCTCAAACTCATGACCTTAAGTATCCACCTGCCTTGGCCTCCCAAAGGGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCAAATCTGTTTTCATTACTACCTATATCTGTATTTTCAACCTTTGTATTAGCATCTAGTTAGGGATAGACCAGGACAGGGCCGACATGTTAGTTGTCAAGCAGATTGCCACCCTCCCCCACCACTGAGGAGGCCAAATGGAGTTTGGTGGAAAATCTCTAATTCATTCAAGGTATTATATGGGCAAGCAATGGCTGTGGCACAGGGTCCCCTGATTACTTTGTAAGAATGGGTGGGAGGGATGCTGATTTTCAATCCTTTTGCAGATCTTCTCTCATAGTAACACAATAGAAGATACTTTGCCACTATGTTGTTTGCCAAACTCACTGTACCTACTTGACTGGTAACAAAAGTCCCAAGAGTTACTTGGGAGAAGACACTTGAAAAAGTATTTTTCTAAATATGGGCAAGGATGCTGCCCTTCCCCAAACTGTTAGTATACCACCTCTCTGACCAATTTTCCCAAGGAAGATATTGGGGTAGGGTGAGGTGTAAAGAAAAAGTGGTCATGTAAATACTGGTAATAAAAGCTGTTCAGTGGGGTAGAGTTGGGTTGCAACTGTAGCCATTCTAAAAATGGGCTATCAATGTCCTTTTAGCCAAAAGACTTTAGTATACATCCTCCTCATTCTACCCTCAGGATTTGGATCTTTGCCCCTGATGGGTATCCATCCCCTTTGAAACTTTAGAAAGGCAGGTTATATACAGAATGTTCAACCTAAAGACATTTCCTTAAGTCATACTTTCATGCTTTCTAAACTATAATCACCCTTATCATCCCCTGCTGTTATGCTTTCCCTCTGCTCCCTGTGGCCTAATGTTCCTCCACCACCTTATTAACCTTCAGGATACTTTTCCCCTAGGCTGGGCAGGACAACACTATCCCCTTGGTCCACAAGCTCCCTCAAGGTTGGGGAATCTTTGTTTACTTAGCAAATACTGAACATAACCTTAAAGCGGTTACTTTTGAAAACTTCTCATGCTATTCTACCAACTTGGAGGCACCTATCCATGCTCATTCCCCTAATGTAGCCAATATGGTTATCTGCAATGTATTGGCATCTAAAAACTCCCTTATGAAACTGCCAGACTTGTTCTGGAACATTTCAATTACATGCAAAATTCAGGTTCTCAAGTTGGAACAAGTCTAATTGACACACCTGCATAGGTTTTAACCTTGCCCTCCCCCTACTTCCCAACAGATTTCCAAGTTTTTTGAGAAGGAACCTTGCTCTGGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCACACCCAGCTTTTTTGTATTTTTGGTAGAGACGGGGTTTCAGTTTGCCAGGCTGGTATCAAACCGTGACCTCAGGTGATCCACCCGCATTAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCTACCATACCCAGATTTCCACGGCTTTTTTTTTAAGTCTCACTCTGTTACCCTGGCCGGAGTGTGGTGGCACGATTTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGGCTAACTTTTTTATATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGTGATCTGCATGCCTTGGCCTCCCAAAGTGCTAGGATTATAGGCTCACGCCTATATTACTATATAGTGGCCTATATTACAGGCCACTCCGCCTGGCCTCCAAATTTCCAAGTTTTTAAGTCTCCATGCAAACAGGCATAAGCAAGCACTCCTTGGCTCTACATTTGCAGGACAAGCTGGACCACCATTCAGATGTTGGTAGAAATGTAATCCAAGTGGCTATTCTCTATGCATGTAGCTCCTAGGTTCAAGAGCAGTGTGGTCTGCGGATTTTCTACACAACCTGCCATAAATGAAATTTAAGCCTTTGGAAATTTATAGCATTTTCAGCTAATTTGCATTATTTATCTCTGCAAGATATTGACTAGAAATCACGTTTCAGAACTTCTCAGATGAAAACATCATACAACCCTTAAAACTAAGCTCATAATTTAAAAATGTATGCAGATTAATAGGCTTAAATTGCCAGGACTTTAGATAGACATTACCACTTCCAGGTTAATACTTTTAGCGGTTTTTATGCCTTCAATGGTTTGAAGCCCTCAACCTTAGTTGAAAACTTAAAAATGGCATTGAATGGCTGCTGCAATAAGGACACATGAATTTTGGCTTAAGTGGACTAGGAGGACTAAATCTTGCTTAGGCTTTTAAAAAATGCCCACCCACTGGGTCTAGGGATTGAGGTTATTTTCCTGAATTATGGCTAATTATGGATTACAATTCAAGGTTAAAGATACACATATAGTATTCTCAGGTTATTCATATGATAGCATTTTTTAAGAGCCAAAGTCTCAGTCACCCAGGCTGGAGTGCAGTGGCTTGATAATGGTTCGCTACAGCCTCCAACTTCTATGTTAAAGTGATCCTCCTACCTCAGCCTTTCAAAGTGTTGGGATTATAGGCACGTACCTATGGCCCCAAAGCACTTTAACAAATGAGTAACAGACACAGTTAAGGTAGAACCTAGCATTTTATTTAGATCTTCATTAAACTGTTGGAATTGAGAACCAGACATACGTAATAAACCTCCAAAAATAGATCCTGAAAGGCACTTTCTGCTTAGGGCAAGCAGTCATGGAATAAGCATGTAAACAAGCTGGCTTCTCTGTACCACACCAGCCAAGTCAGCTTTCTCCATGGCCAGCCGCACCAGCTCTGCCCTCCCTTCTGTTAACACCAGCCAGACCCCCTGTAGGTCTAACCCAAGGTTTTTCTGTAGGACACCTTGGCCTACCTGGGAATGCTGGAAACATGTTGTTAAAGGAATCATGGTGTTGAGAGAAAAAAAAAAAATCTTTTAAAAGCTGCCATCTGAGGTGATGGCTTCTCTGTACTTACGCCATACCCCAGAATACAATAAATAAGCAATTAGAAAACGTTCAAGTATGAAGGGATTTCCTCCTCCCCGCCAAAAGCACTGCTCTCTGAAGGAAGCTGGTTTCTCTGTAGCTACACCAGCTGTTCAGAAAGCTCATTGGACCTGGTTTTGAAAATAAAACAAAGTTAAAACCC)$ MAVVSAVRWLGLRSRLGQPLTGRRAGLCEQARSCRFYSGSATLSKVEGTDVTGIEEVVIPKKKTc|FLMTCISLRNLILGRPSLEQLAQEVTYANLRPFEAVGELNPSNTDSSHSNPPESNPDPVHSEF* 11BR028 ENSG00000116497.18 ENSG00000160062.15 +/+ +/+ chr1:32853166 chr1:32592931 CDS/splice-site 5'UTR/splice-site duplication 1 1 0 104 6 high in-frame . S100P-binding_protein(100%)|BTB/POZ_domain(100%) . . ENSG00000116497.18 ENSG00000160062.15 ENST00000373475.10 ENST00000373510.9 downstream upstream . ^(GCAGTCGTTCGCCCAGGCTTTGGCCCGGCTTCCGGAG___GAAGGTGGGAGTCAATCATTTTGACAAGTCTCCTGAAAGGAACAGCTAGCAGGAACTGAAACCTTTTTCCATTTGGTCTCGTGGCAAAGGCAGAGATTGCTCCAGCAGCTCCACACA___AAATGATGTGCTCACGGGTGCCCTCTGAACAGTCTTCTGGTACCTCTCTCTTGCCTAAAGACGGTGCCCCATTTTCTTGGGATTCCTTGGATGAGGATGGATTGGATGACTCCTTGCTGGAGCTGTCAGAGGGAGAAGAAGATGATGGTGATGTAAATTACACAGAGGAAGAGATTGATGCACTGTTGAAGGAAGATGACCCATCATATGAGCAGTCTTCTGGGGAAGATGATGGTGGGCATGTTGAGAAGGGAGAAAGAGGGAGTCAAATTCTACTTGATACTCCCCGAGAGAAAAATTCATCGTACAGCCTGGGACCAGTAGCTGAGACTCCTGACCTCTTCAAACTACCTCAGCTAAGTACATCAAGTGGTCATGGACCAGCTCATACTAAACCATTAAACAGACGCTCTGTACTAGAAAAGAATCTTATAAAAGTAACTGTTGCACCATTTAATCCAACAGTTTGTGATGCTCTGCTTGATAAGGACGAGACTGATTCGTCCAAAGATACTGAAAAACTCTCTTCCCTTGGAGAAGAGATGAGAGAAGATGGTCTTAGCCCAAATGAAAGCAAACTTTGTACTGAATCTGAAGGGATCAGCCCCAATAACTCTGCCTGGAATGGGCCCCAGCTCTCTTCTTCAAACAATAACTTTCAACAGACTGTCTCTGATAAAAATATGCCTGACAGTGAGAACCCTACGTCTGTATTCTCTCGGATCTCAGACCATTCAGAGACTCCTAATATGGAGTTATCCTGCAGAAATGGTGGTTCACACAAGTCAAGTTGTGAAATGAGATCTCTGGTTGTTTCCACCTCATCAAACAAA___CAGGATGTTCTTAACAAGGATTCTGGGAAGATGAAAGGCCATGAGAGAAGACTAGGCAAAGTCATTCCTGTTCTACAAACTAAGACCAG___GACTAATGTTCCGACGTTTTCACAGTCAAATCTAGAACAGCAGAAGCAGCTTTATCTCAGGAGTGTCATTGCTCATATAGAAGACCCAGAGGA)CACTAACCAAG___GTATCTCGGGGGAGCTTTGTGCCTTGATGGATCAAGTTCATCATATGCAGCACTCAAAATGGCAGCATCCTTCGGACCTCACCACGCG|AATGGAGATCTCCTCTCATCAGTCTCACCTCCTGCAGCAACTGAACGAGCAGCGCAGGCAAGATGTATTTTGTGACTGCAGTATTCTAGTTGAAGGGAAGGTCTTCAAAGC(ACATCGAAATGTATTATTCGCTAGTAGCGGCTACTTTAAAATGCTTCTTTCTCAGAATTCAAAGGAGACGAGTCAGCCAACCACAGCTACATTTCAGGCTTTCTCCCCTGACACTTTTACAGTTATCTTGGACTTCGTATATTCTGGCAAACTGTCTCTTACTGGTCAGAATGTCATAGAAGTGATGTCGGCTGCTAGCTTCCTTCAGATGACTGATGTCATAAGTGTATGTAAGACTTTTATTAAATCTTCCTTAGACATTAGTGAGAAAGAAAAAGATCGCTATTTCAGTCTCTCAGATAAAGATGCCAATTCTAATGGTGTAGAACGTTCCTCTTTTTATAGTGGTGGCTGGCAAGAAGGAAGCAGTTCTCCACGTTCTCACCTAAGCCCAGAGCAAGGAACAGGTATAATAAGTGGAAAATCTTGGAATAAGTATAATTATCATCCAGCCTCCCAGAAGAATACTCAACAACCCTTGGCCAAGCATGAACCAAGGAAAGAGTCCATTAAAAAGACCAAACATTTGAGATTGTCACAGCCTTCTGAAGTTACTCATTATAAGTCAAGCAAACGAGAAGTACGAACATCTGATTCTTCCAGCCATGTTTCCCAGTCTGAAGAACAAGCACAGATTGATGCTGAAATGGACTCTACTCCTGTTGGCTATCAGTACGGTCAAGGATCTGATGTCACATCCAAAAGCTTTCCAG___ATGATCTGCCTCGGATGCGATTCAAGTGCCCGTACTGCACACATGTGGTGAAGCGGAAGGCAGACCTAAAGCGCCACCTTCGTTGTCATACAGGAGAAAGGCCCTATCCATGTCAAGCTTGTGGAAAAAGATTTAGCAGGCTAGACCATCTAAGTAGCCATTTTCGAACA___ATTCACCAGGCATGTAAACTCATCTGCAGAAAATGTAAACGTCATGTGACAGATCTAACAGGGCAAGTGGTACAGGAGGGAACCAGGCGCTACAGACTGTGTAATGAGTGTCTTGCAGAATTTGGCATAGACAGCCTCCCCATTGACTTGGAAGCTGAACAACATCTTATGTCCCCATCAGATGGAGATAAGGATTCCAGATGGCACTTGAGTGAAGATGAGAATAGATCCTATGTGGAGATTGTAGAAGATGGGTCTGCTGATCTGGTCATCCAACAGGTTGATGATAGTGAAGAAGAAGAAGAAAAAGAAATTAAGCCCAACATTAGGTAGCTGTAATGTGAACCAACAGAGCTGGCATGTCTGCAATTTACATTGACTTCCTGTATCTCTCTCTTTCTATGGTCGGAGTCTAGTTAACAAATTTATCACACTGACTTTAAAGAAATGATCTGATATAACTTGCATGCTTTCTGAACAGGCCATTGTATCCATTCTGAACTTTGTTGCCCTAAAATGTGTTGCTGCACTGGAAAGAAAGAACTAGCTTGAGTTGGCTTGATGGATGAACAATTATCCTCTTACTTTCATTACAATCCTCTTACTTTATTCCAGAGATACCTTTTTCTTTTAATATTGGAGGATCTACTTAGCAAACTTTTTTCAAAGAAAATACTTTAAATAAATTCACCACAACCAAACTTTATGTAAGACAATTTCAAGGTGTTTCAAAAACACATAACTACCAATGTTTAATTTCACAGGGAACCAGTTAAGAGCACATTTAAGGATCTGGCAACCCACCTTACTAAACAAATTAGTCTTTCTATTAATTTGAGATCTGAAACAACCTGTCATTACTCTGATATCCTGAACGTTTAAGGATTATGGAAGAAGACTAAAGTGTTTGAAATCATTCATATTTGAAATTTTTATCATTAGCTTAAAAATTACTCTCAGTATTGTTAAAAAAAAAAAAAAGTAGAGGCTGGCCAAAGATTATATACAGATATTTTCTTAAAGCAGGAAACTAATGTTGCCTAAAAGTCAAGGTAGTTTGTGAAGACAATCTGTCAATATGGTTGTCCATCTCTCTAAAGAAAAGCAGGCTGGGCGCTGTGGCTCATGCCTATAATCCCAATACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAAATACAAAATTAGCCGGGCATGGTGGCGGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGAAGGCAGAAGTTGCAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAGGAAAACAAACTAGGAGGTTCTTACCATATGTGAGTGATTTCTAACGTTTATGTAGTGCTATATTATTTATAAAGTACTCTCTCATGTATTTTCTCAGTGAGGTGGATACTATCTCCGATTTACAAATGAGGAAATTAAGGTCAGAAAGTCTGAGAGAGAAAACTGATGATTGGACAGGATCTGATTTTAAACAATCCTCTTTCAGCCTTCTCTCCCTGTATGTCTCCTGAAATGGCAAAGAATAGAAGTCAAACCTCACCAGTTGGCAGTCATTATAAAAATAAGCCAATCAGAATTAGAAAGTATGAAAGGAGGAATTGAATCATTTTCAACAACATACAATATCTTGATCTAGAGATTTTCAAATAATGCTAAGTAATGTCCCTACAGTACCTATTGGTATGTTTTTATGTCACGTTATTTATATGTAAATTTAAAGTATAAAACTATTTGAACAAATTATTCACTTAAATATGTTGAACATTTTTGCTTCTCTTGTTTATATAATATTTTCAAAACAAACTTTTCTCCTAGTATACAAAGTTTAAACTTCTCCCCTTTGGGCTGGGCCCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGGATAGCTTGAACCCAGGAGGCAGAGGCTGCGGTGGGCTGAGGTTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAACTTCTCCCCTGCATAAATTATGAAACATTCCAAAATTACAGCTAAATTAGAGAAGCATTGTTTCAGTTCTAAAGGTAAAATCTAAATATCCGAAGTAAAGAACTGAGCTTCATAAAGGTCTCTTCTGCAAGTTATCACAGTGAAGCTTGATAGAATTTCACTGTATATGGAGAGGCTCCATCTATTTTACTGTTTTCTTTTTTGTTTTTGTTTTTTTTTCGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTTACAGGCGCCCACCACCACTCCCAGCTAATTTTTTGTATTTTTAATAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGATCTCGTGATCCGCCCCCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAATTTTACTGTATTTTTAAATGCCATGACATACCTCAAAATTATCCTTTTTATGTTACTATTTTCTCTTGTTCTTTCATTAATTATTGTCCTTGATACCAATTTCTAGGCTAAATTGGTTACTTTCTTTTAAAAAATTTAAAAATAGATGAATAACCACTTGTTTCATGGTACTTAATTGAGACTTTTTCAAGATTCCCCTGATGGCACATTTGCAGTTGCTTCAAGACTGGATGATGTGCATTGAGTTCTCTGTTCTCCCAACATGGCTGTTCCTAAATCAGGATTCTGGTTTTTTTGAGATGGACTCTCGCTCTGTTGTCCAAGCTGGAGTGCAGTGGCGTGATCTCGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCCGGGACTACAGGCATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCACGCCCGGCCTAAATCAGGATTCTTAACAATTAAAGTGTATCTGAATGAGGAAGGAAACGCTTGTCATTCTCTAGTCTTACCCAATTAATACTGACACCTTTTGAAATTAAAACCTGATTTTTTAGTTGTTGGAGCCAGTAGGAAAAATGGCTGATTTGAACTTTTTTCCTATAAATGAAGTAGTGCTTGCATGTGTGTACTCTAATGCACTTTAGTCTATGATCTAAATGTCCTTTTATGCTATTATCTTCTGCATGCAAACTTTACATACATCAGCATGAATATCCAACATTCACTGAACACAGTGCCACCAGCACTTGTAATTGCCTTTTCAGAAATAATGCTTTCTCATAATTGTTTATAACGAGCATCAAACTATCCCCACAAAATGATCAAGTTCACCAAACTAGACAAAGAATCTGTTGTATCATTTTAACATCATAGAAGAACATTTAAGACATGTTTGTAAGTTGTAAATAATGACTCCAGTTATAGCATATATATCTAAGACGTTAGAGACCAGTTATTTTCTAGAGTGAAACTGTCTATTGATGATTGAGAAAATTGAATTCTTTGGTTTTTACATGTGGGCAAATGTTACATAGGGGTATAATCTGTTTAAATAAGCTTTATTTATGCCAAGGATTTTTTTTTTAATATCAAGACTTGGTTAGACCAAAGTTTGCTCTTGCAGGAATGCCATTTATCAGCTTCTGAATGCCCTTCTAACTCCATTACCCTCAAGAGTGTCTGGGTATAGGATGAAGCATTACAAAAAGAAAGCACCACTGCAGTCATGCCTAGTGTCTGGGAGAAACAAAATGGACTAGACCTGCAGTTTAAAATAATTTAACCCGAGAAACTCTTCAAATGAATTGTTTCCTAAAGATGCTCAAATTTAAGGGATAAACTCTAAAATCAGAGCTGCTGTGGTTAAAGTCCCCCACAAACCTTTCCCCAGACACCTCTGCAGAACTCAGGTGCACAATGTTGAAAACCATGGAATTAGACAACTTCCTGAATTCCCTTTGAGCCTTGCAGCCTCATTTCGTTACTCCTGTTACTCACGGTGCTTATAAGCAGGTAACCATATGGTCTCTTAGTGAAGCAAATCACATCCTTAGCACATGATGTTCCTTCTATGGGTATCAGATCTTAAGACTTTTTAAAATTTAGGAACAAATGTTTCAATATTATATTTTCAGTAATGCAATCAAAATAAGCATAGTTACTGTTTTCTGTACGGCTAAGTACTGCCTAATGGATGAAAGAAGTTTGGTGCTTCAATTATTTATGAGCTCAGAACTCAATTCATTAAAGTTATTTTGCCAAGTCATGCCAAGATATATTGAAATTTCCACTCATATTGGTTTTTAAAATTTTTTTTAGTCCTAAAATTAATAAGTATGGAAAATCACTAAAAGCAGTGTAGGATAAGGTGTGTTTAACTGGCCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTAAGGCCAGGTGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATACAAAAAATAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCAAAAAAAAAAAAAAAAAAAAAAAAGATGTGTTTAACTGGGAAGGGTGATAATAATAGAATAATAGGTACAGGAGGACCAAACTTTAGATTATAAACCAGAAAGTTTTGTTATTTTATATAAGTGTATCAGTATTACTATTTATCATTTATATAGCATTTTATATTTGCAAAGTGTTTAATAATTTTTGTTATTCTTTACATATATATGAAATAGGACAGTTATCCCACATGAACGGTAAATAAATTGAGGCACAGAACAGTAAAAAAACCTCAGGGTCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTTAGGTCAAGAGTTGGAGACCAGCCTGGGGCAATATAGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCTGGGGGCTGAGACAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGGCTGGGTGACAGAGCGAGACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAACCTAAGACAACCCAGTGAAATGGTAGCAAAAAATAGGAAATATAATGATCACATTTTCTGAATCCTAGACCATCAGCCTAATTCACTGAGGTGTGTTGTGTATCACTCTATTTTATAGATGATTTTATATAAGTAACAGTGGATTGTTTTAAAGCTGACGTCATTGTATGTGGATACATTCTATATGGAATAAATGTTATGTAAAGGA)$ MMCSRVPSEQSSGTSLLPKDGAPFSWDSLDEDGLDDSLLELSEGEEDDGDVNYTEEEIDALLKEDDPSYEQSSGEDDGGHVEKGERGSQILLDTPREKNSSYSLGPVAETPDLFKLPQLSTSSGHGPAHTKPLNRRSVLEKNLIKVTVAPFNPTVCDALLDKDETDSSKDTEKLSSLGEEMREDGLSPNESKLCTESEGISPNNSAWNGPQLSSSNNNFQQTVSDKNMPDSENPTSVFSRISDHSETPNMELSCRNGGSHKSSCEMRSLVVSTSSNKQDVLNKDSGKMKGHERRLGKVIPVLQTKTRTNVPTFSQSNLEQQKQLYLRSVIAHIEDPEDTNQGISGELCALMDQVHHMQHSKWQHPSDLTTr|MEISSHQSHLLQQLNEQRRQDVFCDCSILVEGKVFKAHRNVLFASSGYFKMLLSQNSKETSQPTTATFQAFSPDTFTVILDFVYSGKLSLTGQNVIEVMSAASFLQMTDVISVCKTFIKSSLDISEKEKDRYFSLSDKDANSNGVERSSFYSGGWQEGSSSPRSHLSPEQGTGIISGKSWNKYNYHPASQKNTQQPLAKHEPRKESIKKTKHLRLSQPSEVTHYKSSKREVRTSDSSSHVSQSEEQAQIDAEMDSTPVGYQYGQGSDVTSKSFPDDLPRMRFKCPYCTHVVKRKADLKRHLRCHTGERPYPCQACGKRFSRLDHLSSHFRTIHQACKLICRKCKRHVTDLTGQVVQEGTRRYRLCNECLAEFGIDSLPIDLEAEQHLMSPSDGDKDSRWHLSEDENRSYVEIVEDGSADLVIQQVDDSEEEEEKEIKPNIR* 11BR028 ENSG00000116497.18 ENSG00000160062.15 +/+ +/+ chr1:32858585 chr1:32570292 3'UTR intron duplication 2 2 0 54 7 medium stop-codon . S100P-binding_protein(100%)|BTB/POZ_domain(100%) . . ENSG00000116497.18 ENSG00000160062.15 ENST00000373475.10 . downstream upstream . ^(GCAGTCGTTCGCCCAGGCTTTGGCCCGGCTTCCGGAG___GAAGGTGGGAGTCAATCATTTTGACAAGTCTCCTGAAAGGAACAGCTAGCAGGAACTGAAACCTTTTTCCATTTGGTCTCGTGGCAAAGGCAGAGATTGCTCCAGCAGCTCCACACA___AAATGATGTGCTCACGGGTGCCCTCTGAACAGTCTTCTGGTACCTCTCTCTTGCCTAAAGACGGTGCCCCATTTTCTTGGGATTCCTTGGATGAGGATGGATTGGATGACTCCTTGCTGGAGCTGTCAGAGGGAGAAGAAGATGATGGTGATGTAAATTACACAGAGGAAGAGATTGATGCACTGTTGAAGGAAGATGACCCATCATATGAGCAGTCTTCTGGGGAAGATGATGGTGGGCATGTTGAGAAGGGAGAAAGAGGGAGTCAAATTCTACTTGATACTCCCCGAGAGAAAAATTCATCGTACAGCCTGGGACCAGTAGCTGAGACTCCTGACCTCTTCAAACTACCTCAGCTAAGTACATCAAGTGGTCATGGACCAGCTCATACTAAACCATTAAACAGACGCTCTGTACTAGAAAAGAATCTTATAAAAGTAACTGTTGCACCATTTAATCCAACAGTTTGTGATGCTCTGCTTGATAAGGACGAGACTGATTCGTCCAAAGATACTGAAAAACTCTCTTCCCTTGGAGAAGAGATGAGAGAAGATGGTCTTAGCCCAAATGAAAGCAAACTTTGTACTGAATCTGAAGGGATCAGCCCCAATAACTCTGCCTGGAATGGGCCCCAGCTCTCTTCTTCAAACAATAACTTTCAACAGACTGTCTCTGATAAAAATATGCCTGACAGTGAGAACCCTACGTCTGTATTCTCTCGGATCTCAGACCATTCAGAGACTCCTAATATGGAGTTATCCTGCAGAAATGGTGGTTCACACAAGTCAAGTTGTGAAATGAGATCTCTGGTTGTTTCCACCTCATCAAACAAA___CAGGATGTTCTTAACAAGGATTCTGGGAAGATGAAAGGCCATGAGAGAAGACTAGGCAAAGTCATTCCTGTTCTACAAACTAAGACCAG___GACTAATGTTCCGACGTTTTCACAGTCAAATCTAGAACAGCAGAAGCAGCTTTATCTCAGGAGTGTCATTGCTCATATAGAAGACCCAGAGGACACTAACCAAG___GTATCTCGGGGGAGCTTTGTGCCTTGATGGATCAAGTTCATCATATGCAGCACTCAAAATGGCAGCATCCTTCGGACCTCACCACGCG___AAACTACGCCCGCCGACAGAAACATCTGCAAAGATACAGTCTGACTCAGTGGGTTGACAGGAACATGCGAAGCCACCATCGGTTCCAGCGTCTCCCAGACTTCTCGTACAGTTAATTTGTGTCATCCCATCAGCAATGAAGGTCCCTATCCAGGGTCCTGCTTGGAGCAGCATTTCATGTTCTTTTGCTGTTTTGTGCTTTGCCGATTTTGGATTTTATTTTTCACAAAATTTTTATTTAAAAAACTCGTCACCTTTTGGAAATGCCCATTGCCGACTTGAATTTTTTTGTATGAAGTCCCTCCTGATTTTGTGTGTGTGTGTCTGTGTTTAAGCAAGCGTTCGGTTGGTATAGTTTTTTTTTGTTTTTTTAATTTAAATTGAAGGTAGCTGCCTCCTGAAAGCCAGCATTAAGCCAGAACACCCAGGTTCAAGCAAAAGACCCACCTCTCTGCAGAGGCAAAGTCTACTTTCTGGTACCTCAAAGAAATCATTGTTCAATCTTCCATAAGGAAGAGATTCTTTACCAGGCTGTGAGCCAGTGTTAGATAACTTGTGAATGGATATAAGTTACTTTTAACAACCCCTCTTACTTTTTTATTTGAATCCTCTGAATACCTGTCAGTATTTTAAAGTTGGCAATCCAGGACATTATAAGTAGGATGGAGCAGGAGAAGAATCCTATTGAAAGGACAAATTAAAATAGTAAATCCTCTCCTCTCCCTTCTGTAGGTACTAGCTGCCTTGATTTTTTTTTGTGGGTGGGGGGGATTTTTTCATTCCTTATTGAACTTATTTTGCACAATAGTGTTTACAAATCTTATACATCTTACTTTGACAGAAGACTTATAATACCTTGTGGTCTTGAGACTGGTTGTCTCCTTTGCCTTTCTTCAAGGATTTTCCTTTTTCTTTTTACCCCCCAGTGACCACTCTGCTCTTTAGGATTCTAGTGGCAGTATTCTTGTAACCTGTTAGACGTGGATATACCTCTTCAGGATGGCCTCCTTGCTGTCTTTATTGAAGAGCTGCCCACCCAGAGTCTTGACTCTAGGGCAGGCTAGTGCTATTGTGGTGTCAGTTGATATTTAGTTTCATTTGCTGAACCCCAAATTTGAGTGTTAGTTAGGGAGCCTCCATTCTGTGGGAGAGTGTGGAAAGGCACTCTTTTTTCTCCATATTAGTTAACAAGAGGTGTCTTTAGGCCCTGGATGTTACCATCTCATTTGGTCAAGCCCCTGATACCTAGTTTCACATGGATGCTAACGTGGATGTAATATAGTTGTGACAGCCTATGCACAAAAGCATTACCTGATCTTAAGGTTTGGTATTCTAACCAAAGTTGACAGACTGTGCGTCTGTCTTAATGGATGTCTTAGGAGTTGGTTATTCTCTCTTTTTTTTTTGAGACGGAGTTTCGCTGTTGTTGCCCAGGCTGGAGTGCAATGGCGTATCTCCACTCACCACAACCTCCGCCTCCTGGGTTCAAGGGATTCTCCTGTCTTAGCCTCCTGAGTAGCTGTGATTACAGGCATGCGCCACCATGCCTGGCTAATTTCATATTTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCGGTTATTCTCTCTTTACAGATAGCTATAGACATCATTTTAGGAAGTGTTGCAGTCTGGCATTTGTGCTATTGTTCATTCTCTGTGAAGGCTGTTCATAGTTGCTATAGCCTGTGTTTAGTTTTGTGATTTCATCAATCCCATCTTTCTGTGTGAGTAATGCATTCTAAACATCCTACCCCACTTTAGAAACGGACGTGGGGAACGCTTGGTCATTTAAGCCAACAATAAATTTAGGTGAATGTCCCTAAGTGTTTACTGTTTTTATCCAGTCAAGGATTTGCTTTTCCTTGAACATTTGTTTTAAATTCTGGGGCCAAAATGCAAAGGAGAAGTTCTATTCAAAGGCAGTAGTTGAAATCTATTATTTTAGTTAGCCTACTTGGCATTTACTACATCGGTCACTTCTCCAGGCTGCCCTAAATTAGGTTGATGGAGTGAGACATGCCAAACATCCACCTTTGGGACCATAGCATAGTTAAAATTAAATGTAGTTGGAATAGCTAGCATTGCAGCTACAGTAGGGAACTGTAGTCTAGTTCCCTACAGAAAACCCAAGGAGTGAAGGGACAGGATTTTGCCTAGGCAAAAATCTAAGACTCGTGCCCTCCTGGTACATGGGGTTTTAAGACTGAATGTGTAATAGGAGCACTGCCTTTGCCAAATCAAATGAGTGACAGGTTAACTAGAAAATGTGACAATCACATTTCCTCTTAGCTCAAATAATTCTGTTTTTCCAAAGCTTTAGCAGCTTAATTAAATCTGTTGGACT)GGGGGAGGAGAGAGCTGTTCTCTAGTGGTTAACATGGTATTCTTTAAGAAGAAAAAACAAAGCCAAAGAAAACTCATTATCTGGCATGTTCGCCTTAAAGATGGTACTGGGTAGAATCTGGAGTTTTCATCTCTTTTCAAAGCTGCATATCTCTcATATTTGGTATTGGCCTCTAAGTCTAATATTGCAGTTGGAATTCTTGCTG|CCAATAATACACTATCTTGGTTACCATAGTTATAGTAAGTCTTGTAATTACGTAGGTTAAGTTCCCTTTTCCTCTTCTTTTTCAAAATTGTTTTGGCTATTTTAGG . 11BR028 ENSG00000154814.14 ENSG00000101463.6 +/+ +/- chr3:16294997 chr20:24505215 CDS/splice-site intron translocation/5'-5' 1 1 0 20 1 high out-of-frame . . . . ENSG00000154814.14 ENSG00000101463.6 ENST00000606098.1 . downstream downstream . ^(AGCCCAGGGCGACGGTCAGCTTGTTAATTCCTGGCTGCAG___GAACTTTGTGAGAATTTTAATGCATGGAAAAGCTGTCCATGTTCCAACTGCTGTACATCCAAAAGTCTCAGTGTAATAGCAGGACCAAAATATTCTGTCAATCAGCTGACCATATACTTAATGACTCCTAAAATCTCGTGGACTTCTAAG___AAAGCGCCATGGCCTGTGCTGCTGTTATGATTCCTGGGTTGTTGCGGTGCTCTGTTGGAGCCATCCGTATTGAGGCTGCGTCACTGAGATTGACACTCAGCACTTTGCGCCACCTTACTCTAACCAG___CATAATGAAATCCAAAAGGAAAACTGATCACATGGAGAGAACTGCAAGTGTCCTTCGACGGGAG___ATTGTGTCAGCAGCTAAGGTGTGTGGAGCTGCCAGTGAGTCAC)CGTCAGTGAAGAGCCTCCGCTTGCTTGTTGCTGATCAAGACTTTTCCTTTAAAGCTGGCCAGTG___GGTTGATTTCTTTATTCCAGGAGTCTCTGTGGTTGGTGGGTTTTCAATATGCTCCAGTCCCAGACTGCTAGAACAAGAGAGAGTGATAGAATTGGCAGTGAAATATACGAACCACCCTCCTGCCCTCTGGGTTCACAATACG|GTCCTCTCTTCAGCCTTTTCCAGCTCATCTCCCTGTAGCCCGCGGTGCCACCTACCTACCCTGTGCCGATGACCACTCAGCTAGCAAGCTGGACACGCACAGACCCTCTGCTGGCTCCTCACCCACCACGTCTGTGAACAGCCCTGCCGCGGCTCACCTGGCCTTGCCCCACACCTGGGATCTGTTCACCACCTCCTCCATGAAAATCAAAGCATCAACAAGTC MACAAVMIPGLLRCSVGAIRIEAASLRLTLSTLRHLTLTSIMKSKRKTDHMERTASVLRREIVSAAKVCGAASESPSVKSLRLLVADQDFSFKAGQWVDFFIPGVSVVGGFSICSSPRLLEQERVIELAVKYTNHPPALWVHNT|vlssafsssspcsprchlptlcr* 11BR028 ENSG00000116497.18 ENSG00000254553.1 +/+ +/+ chr1:32853166 chr1:32592931 CDS/splice-site 3'UTR/splice-site duplication 1 1 0 104 6 high out-of-frame . S100P-binding_protein(100%)| . . ENSG00000116497.18 ENSG00000254553.1 ENST00000373475.10 ENST00000480336.1 downstream upstream . ^(GCAGTCGTTCGCCCAGGCTTTGGCCCGGCTTCCGGAG___GAAGGTGGGAGTCAATCATTTTGACAAGTCTCCTGAAAGGAACAGCTAGCAGGAACTGAAACCTTTTTCCATTTGGTCTCGTGGCAAAGGCAGAGATTGCTCCAGCAGCTCCACACA___AAATGATGTGCTCACGGGTGCCCTCTGAACAGTCTTCTGGTACCTCTCTCTTGCCTAAAGACGGTGCCCCATTTTCTTGGGATTCCTTGGATGAGGATGGATTGGATGACTCCTTGCTGGAGCTGTCAGAGGGAGAAGAAGATGATGGTGATGTAAATTACACAGAGGAAGAGATTGATGCACTGTTGAAGGAAGATGACCCATCATATGAGCAGTCTTCTGGGGAAGATGATGGTGGGCATGTTGAGAAGGGAGAAAGAGGGAGTCAAATTCTACTTGATACTCCCCGAGAGAAAAATTCATCGTACAGCCTGGGACCAGTAGCTGAGACTCCTGACCTCTTCAAACTACCTCAGCTAAGTACATCAAGTGGTCATGGACCAGCTCATACTAAACCATTAAACAGACGCTCTGTACTAGAAAAGAATCTTATAAAAGTAACTGTTGCACCATTTAATCCAACAGTTTGTGATGCTCTGCTTGATAAGGACGAGACTGATTCGTCCAAAGATACTGAAAAACTCTCTTCCCTTGGAGAAGAGATGAGAGAAGATGGTCTTAGCCCAAATGAAAGCAAACTTTGTACTGAATCTGAAGGGATCAGCCCCAATAACTCTGCCTGGAATGGGCCCCAGCTCTCTTCTTCAAACAATAACTTTCAACAGACTGTCTCTGATAAAAATATGCCTGACAGTGAGAACCCTACGTCTGTATTCTCTCGGATCTCAGACCATTCAGAGACTCCTAATATGGAGTTATCCTGCAGAAATGGTGGTTCACACAAGTCAAGTTGTGAAATGAGATCTCTGGTTGTTTCCACCTCATCAAACAAA___CAGGATGTTCTTAACAAGGATTCTGGGAAGATGAAAGGCCATGAGAGAAGACTAGGCAAAGTCATTCCTGTTCTACAAACTAAGACCAG___GACTAATGTTCCGACGTTTTCACAGTCAAATCTAGAACAGCAGAAGCAGCTTTATCTCAGGAGTGTCATTGCTCATATAGAAGACCCAGAGGA)CACTAACCAAG___GTATCTCGGGGGAGCTTTGTGCCTTGATGGATCAAGTTCATCATATGCAGCACTCAAAATGGCAGCATCCTTCGGACCTCACCACGCG|AATGGAGATCTCCTCTCATCAGTCTCACCTCCTGCAGCAACTGAACGAGCAGCGCAGGCAAGATGTATTTTGTGACTGCAGTATTCTAGTTGAAGGGAAGGTCTTCAAAGC(ACATCGAAATGTATTATTCGCTAGTAGCGGCTACTTTAAAATGCTTCTTTCTCAGAATTCAAAGGAGACGAGTCAGCCAACCACAGCTACATTTCAGGCTTTCTCCCCTGACACTTTTACAGTTATCTTGGACTTCGTATATTCTGGCAAACTGTCTCTTACTGGTCAGAATGTCATAGAAGTGATGTCGGCTGCTAGCTTCCTTCAGATGACTGATGTCATAAGTGTATGTAAGACTTTTATTAAATCTTCCTTAGACATTAGTGAGAAAGAAAAAGATCGCTATTTCAGTCTCTCAGATAAAGATGCCAATTCTAATGGTGTAGAACGTTCCTCTTTTTATAGTGGTGGCTGGCAAGAAGGAAGCAGTTCTCCACGTTCTCACCTAAGCCCAGAGCAAGGAACAGGTATAATAAGTGGAAAATCTTGGAATAAGTATAATTATCATCCAGCCTCCCAGAAGAATACTCAACAACCCTTGGCCAAGCATGAACCAAGGAAAGAGTCCATTAAAAAGACCAAACATTTGAGATTGTCACAGCCTTCTGAAGTTACTCATTATAAGTCAAGCAAACGAGAAGTACGAACATCTGATTCTTCCAGCCATGTTTCCCAGTCTGAAGAACAAGCACAGATTGATGCTGAAATGGACTCTACTCCTGTTGGCTATCAGTACGGTCAAGGATCTGATGTCACATCCAAAAGCTTTCCAG___ATGATCTGCCTCGGATGCGATTCAAGTGCCCGTACTGCACACATGTGGTGAAGCGGAAGGCAGACCTAAAGCGCCACCTTCGTTGTCATACAGGAGAAAGGCCCTATCCATGTCAAGCTTGTGGAAAAAGATTTAGCAGGCTAGACCATCTAAGTAGCCATTTTCGAACA___ATTCACCAGGCATGTAAACTCATCTGCAGAAAATGTAAACGTCATGTGACAGATCTAACAGGGCAAGTGGTACAGGAGGGAACCAGGCGCTACAGACTGTGTAATGAGTGTCTTGCAGAATTTGGCATAGACAGCCTCCCCATTGACTTGGAAGCTGAACAACATCTTATGTCCCCATCAGATGGAGATAAGGATTCCAGATGGCACTTGAGTGAAGATGAGAATAGATCCTATGTGGAGATTGTAGAAGATGGGTCTGCTGATCTGGTCATCCAACAGGTTGATGATAGTGAAGAAGAAGAAGAAAAAGAAATTAAGCCCAACATTAGGTAGCTGTAATGTGAACCAACAGAGCTGGCATGTCTGCAATTTACATTGACTTCCTGTATCTCTCTCTTTCTATGGTCGGAGTCTAGTTAACAAATTTATCACACTGACTTTAAAGAAATGATCTGATATAACTTGCATGCTTTCTGAACAGGCCATTGTATCCATTCTGAACTTTGTTGCCCTAAAATGTGTTGCTGCACTGGAAAGAAAGAACTAGCTTGAGTTGGCTTGATGGATGAACAATTATCCTCTTACTTTCATTACAATCCTCTTACTTTATTCCAGAGATACCTTTTTCTTTTAATATTGGAGGATCTACTTAGCAAACTTTTTTCAAAGAAAATACTTTAAATAAATTCACCACAACCAAACTTTA)$ MMCSRVPSEQSSGTSLLPKDGAPFSWDSLDEDGLDDSLLELSEGEEDDGDVNYTEEEIDALLKEDDPSYEQSSGEDDGGHVEKGERGSQILLDTPREKNSSYSLGPVAETPDLFKLPQLSTSSGHGPAHTKPLNRRSVLEKNLIKVTVAPFNPTVCDALLDKDETDSSKDTEKLSSLGEEMREDGLSPNESKLCTESEGISPNNSAWNGPQLSSSNNNFQQTVSDKNMPDSENPTSVFSRISDHSETPNMELSCRNGGSHKSSCEMRSLVVSTSSNKQDVLNKDSGKMKGHERRLGKVIPVLQTKTRTNVPTFSQSNLEQQKQLYLRSVIAHIEDPEDTNQGISGELCALMDQVHHMQHSKWQHPSDLTTr|meisshqshllqqlneqrrqdvfcdcsilvegkvfkahrnvlfassgyfkmllsqnsketsqpttatfqafspdtftvildfvysgklsltgqnvievmsaasflqmtdvisvcktfikssldisekekdryfslsdkdansngverssfysggwqegsssprshlspeqgtgiisgkswnkynyhpasqkntqqplakheprkesikktkhlrlsqpsevthyksskrevrtsdssshvsqseeqaqidaemdstpvgyqygqgsdvtsksfpddlprmrfkcpycthvvkrkadlkrhlrchtgerpypcqacgkrfsrldhlsshfrtihqacklicrkckrhvtdltgqvvqegtrryrlcneclaefgidslpidleaeqhlmspsdgdkdsrwhlsedenrsyveivedgsadlviqqvddseeeeekeikpnir* 11BR028 ENSG00000116497.18 ENSG00000254553.1 +/+ +/+ chr1:32858585 chr1:32570292 3'UTR intron duplication 2 2 0 54 7 medium stop-codon . S100P-binding_protein(100%)| . . ENSG00000116497.18 ENSG00000254553.1 ENST00000373475.10 . downstream upstream . ^(GCAGTCGTTCGCCCAGGCTTTGGCCCGGCTTCCGGAG___GAAGGTGGGAGTCAATCATTTTGACAAGTCTCCTGAAAGGAACAGCTAGCAGGAACTGAAACCTTTTTCCATTTGGTCTCGTGGCAAAGGCAGAGATTGCTCCAGCAGCTCCACACA___AAATGATGTGCTCACGGGTGCCCTCTGAACAGTCTTCTGGTACCTCTCTCTTGCCTAAAGACGGTGCCCCATTTTCTTGGGATTCCTTGGATGAGGATGGATTGGATGACTCCTTGCTGGAGCTGTCAGAGGGAGAAGAAGATGATGGTGATGTAAATTACACAGAGGAAGAGATTGATGCACTGTTGAAGGAAGATGACCCATCATATGAGCAGTCTTCTGGGGAAGATGATGGTGGGCATGTTGAGAAGGGAGAAAGAGGGAGTCAAATTCTACTTGATACTCCCCGAGAGAAAAATTCATCGTACAGCCTGGGACCAGTAGCTGAGACTCCTGACCTCTTCAAACTACCTCAGCTAAGTACATCAAGTGGTCATGGACCAGCTCATACTAAACCATTAAACAGACGCTCTGTACTAGAAAAGAATCTTATAAAAGTAACTGTTGCACCATTTAATCCAACAGTTTGTGATGCTCTGCTTGATAAGGACGAGACTGATTCGTCCAAAGATACTGAAAAACTCTCTTCCCTTGGAGAAGAGATGAGAGAAGATGGTCTTAGCCCAAATGAAAGCAAACTTTGTACTGAATCTGAAGGGATCAGCCCCAATAACTCTGCCTGGAATGGGCCCCAGCTCTCTTCTTCAAACAATAACTTTCAACAGACTGTCTCTGATAAAAATATGCCTGACAGTGAGAACCCTACGTCTGTATTCTCTCGGATCTCAGACCATTCAGAGACTCCTAATATGGAGTTATCCTGCAGAAATGGTGGTTCACACAAGTCAAGTTGTGAAATGAGATCTCTGGTTGTTTCCACCTCATCAAACAAA___CAGGATGTTCTTAACAAGGATTCTGGGAAGATGAAAGGCCATGAGAGAAGACTAGGCAAAGTCATTCCTGTTCTACAAACTAAGACCAG___GACTAATGTTCCGACGTTTTCACAGTCAAATCTAGAACAGCAGAAGCAGCTTTATCTCAGGAGTGTCATTGCTCATATAGAAGACCCAGAGGACACTAACCAAG___GTATCTCGGGGGAGCTTTGTGCCTTGATGGATCAAGTTCATCATATGCAGCACTCAAAATGGCAGCATCCTTCGGACCTCACCACGCG___AAACTACGCCCGCCGACAGAAACATCTGCAAAGATACAGTCTGACTCAGTGGGTTGACAGGAACATGCGAAGCCACCATCGGTTCCAGCGTCTCCCAGACTTCTCGTACAGTTAATTTGTGTCATCCCATCAGCAATGAAGGTCCCTATCCAGGGTCCTGCTTGGAGCAGCATTTCATGTTCTTTTGCTGTTTTGTGCTTTGCCGATTTTGGATTTTATTTTTCACAAAATTTTTATTTAAAAAACTCGTCACCTTTTGGAAATGCCCATTGCCGACTTGAATTTTTTTGTATGAAGTCCCTCCTGATTTTGTGTGTGTGTGTCTGTGTTTAAGCAAGCGTTCGGTTGGTATAGTTTTTTTTTGTTTTTTTAATTTAAATTGAAGGTAGCTGCCTCCTGAAAGCCAGCATTAAGCCAGAACACCCAGGTTCAAGCAAAAGACCCACCTCTCTGCAGAGGCAAAGTCTACTTTCTGGTACCTCAAAGAAATCATTGTTCAATCTTCCATAAGGAAGAGATTCTTTACCAGGCTGTGAGCCAGTGTTAGATAACTTGTGAATGGATATAAGTTACTTTTAACAACCCCTCTTACTTTTTTATTTGAATCCTCTGAATACCTGTCAGTATTTTAAAGTTGGCAATCCAGGACATTATAAGTAGGATGGAGCAGGAGAAGAATCCTATTGAAAGGACAAATTAAAATAGTAAATCCTCTCCTCTCCCTTCTGTAGGTACTAGCTGCCTTGATTTTTTTTTGTGGGTGGGGGGGATTTTTTCATTCCTTATTGAACTTATTTTGCACAATAGTGTTTACAAATCTTATACATCTTACTTTGACAGAAGACTTATAATACCTTGTGGTCTTGAGACTGGTTGTCTCCTTTGCCTTTCTTCAAGGATTTTCCTTTTTCTTTTTACCCCCCAGTGACCACTCTGCTCTTTAGGATTCTAGTGGCAGTATTCTTGTAACCTGTTAGACGTGGATATACCTCTTCAGGATGGCCTCCTTGCTGTCTTTATTGAAGAGCTGCCCACCCAGAGTCTTGACTCTAGGGCAGGCTAGTGCTATTGTGGTGTCAGTTGATATTTAGTTTCATTTGCTGAACCCCAAATTTGAGTGTTAGTTAGGGAGCCTCCATTCTGTGGGAGAGTGTGGAAAGGCACTCTTTTTTCTCCATATTAGTTAACAAGAGGTGTCTTTAGGCCCTGGATGTTACCATCTCATTTGGTCAAGCCCCTGATACCTAGTTTCACATGGATGCTAACGTGGATGTAATATAGTTGTGACAGCCTATGCACAAAAGCATTACCTGATCTTAAGGTTTGGTATTCTAACCAAAGTTGACAGACTGTGCGTCTGTCTTAATGGATGTCTTAGGAGTTGGTTATTCTCTCTTTTTTTTTTGAGACGGAGTTTCGCTGTTGTTGCCCAGGCTGGAGTGCAATGGCGTATCTCCACTCACCACAACCTCCGCCTCCTGGGTTCAAGGGATTCTCCTGTCTTAGCCTCCTGAGTAGCTGTGATTACAGGCATGCGCCACCATGCCTGGCTAATTTCATATTTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCGGTTATTCTCTCTTTACAGATAGCTATAGACATCATTTTAGGAAGTGTTGCAGTCTGGCATTTGTGCTATTGTTCATTCTCTGTGAAGGCTGTTCATAGTTGCTATAGCCTGTGTTTAGTTTTGTGATTTCATCAATCCCATCTTTCTGTGTGAGTAATGCATTCTAAACATCCTACCCCACTTTAGAAACGGACGTGGGGAACGCTTGGTCATTTAAGCCAACAATAAATTTAGGTGAATGTCCCTAAGTGTTTACTGTTTTTATCCAGTCAAGGATTTGCTTTTCCTTGAACATTTGTTTTAAATTCTGGGGCCAAAATGCAAAGGAGAAGTTCTATTCAAAGGCAGTAGTTGAAATCTATTATTTTAGTTAGCCTACTTGGCATTTACTACATCGGTCACTTCTCCAGGCTGCCCTAAATTAGGTTGATGGAGTGAGACATGCCAAACATCCACCTTTGGGACCATAGCATAGTTAAAATTAAATGTAGTTGGAATAGCTAGCATTGCAGCTACAGTAGGGAACTGTAGTCTAGTTCCCTACAGAAAACCCAAGGAGTGAAGGGACAGGATTTTGCCTAGGCAAAAATCTAAGACTCGTGCCCTCCTGGTACATGGGGTTTTAAGACTGAATGTGTAATAGGAGCACTGCCTTTGCCAAATCAAATGAGTGACAGGTTAACTAGAAAATGTGACAATCACATTTCCTCTTAGCTCAAATAATTCTGTTTTTCCAAAGCTTTAGCAGCTTAATTAAATCTGTTGGACT)GGGGGAGGAGAGAGCTGTTCTCTAGTGGTTAACATGGTATTCTTTAAGAAGAAAAAACAAAGCCAAAGAAAACTCATTATCTGGCATGTTCGCCTTAAAGATGGTACTGGGTAGAATCTGGAGTTTTCATCTCTTTTCAAAGCTGCATATCTCTcATATTTGGTATTGGCCTCTAAGTCTAATATTGCAGTTGGAATTCTTGCTG|CCAATAATACACTATCTTGGTTACCATAGTTATAGTAAGTCTTGTAATTACGTAGGTTAAGTTCCCTTTTCCTCTTCTTTTTCAAAATTGTTTTGGCTATTTTAGG . 11BR028 ENSG00000237649.8 ENSG00000007255.10 +/+ -/- chr6:33391997 chr19:45165194 CDS/splice-site CDS/splice-site translocation 11 0 0 66 108 medium in-frame . . . . ENSG00000237649.8 ENSG00000007255.10 ENST00000428849.7 ENST00000006275.8 downstream downstream . ^(GGAAT)TCAAAAGTGGCGGGTGTGGCGCGGGGCTGGTAGCGGCCGGAGCCGTGCGAGTTCTCTACCCTGCTTCGCGAGCGGGCGAGAGAACGCGAGTCCCAGGATCCCCGGCACCCAcTTCTCTTCCACTGCATTCCCCCGGCGCGTGTGGGACCGAGGTGGACATGGATCCGCAG|GGACAGAAGATGAGCCTGTCGGTCCTGGAGGGTATGGGGTTCCGTGTGGGCCAGGCTCTAGGCGAGAG___GCTGCCCCGGGAGACGCTGGCCTTCAGGGAGGAGCTGGATGTCCTCAAGTTCTTG(TGCAAAGACCTGTGGGTGGCGGTGTTCCAGAAGCAGATGGACAGCCTGCGCACCAATCACCAG___GGGACCTACGTCCTGCAAGACAACAGCTTCCCCCTCCTCCTCCCGATGGCCTCTGGCCTGCAGTATCTGGAGGAAGCACCCAAG___TTCCTGGCCTTCACCTGCGGCCTCCTGCGCGGCGCCCTCTATACCCTGGGCATTGAGAGCGTGGTCACCGCCTCCGTGGCAGCCCTGCCCGTCT___GTAAGTTCCAGGTGGTGATTCCGAAATCCTAAGCCTGCCTCGCACCTGCTGAGCCGCACTGCTGCCCCTGGCCTCACCGGCCTCAGGAGACGGTGGGGCCGCTGCATTTCGGGGTGGTCTTGGGAATCCCAGGCCCTAGGGGTCACATTTGCTCAGGAAGTGGGTATCAAATTGAGGTGGGGGTGTCAGAGGAGGCAAAGGGGTCCCAGCTGCGGTCAGGACTGTGGTGGGATTCCCGCCTCGGCAGCGTCACTGCCCAGTAGCTGCTCAATAAAGGCTGTGTGTGTGGAATCTGA)$ MDPQ|GQKMSLSVLEGMGFRVGQALGERLPRETLAFREELDVLKFLCKDLWVAVFQKQMDSLRTNHQGTYVLQDNSFPLLLPMASGLQYLEEAPKFLAFTCGLLRGALYTLGIESVVTASVAALPVCKFQVVIPKS* 11BR028 ENSG00000237649.8 ENSG00000007255.10 +/+ -/- chr6:33391997 chr19:45164970 CDS/splice-site CDS/splice-site translocation 8 0 0 66 166 medium out-of-frame . . . . ENSG00000237649.8 ENSG00000007255.10 ENST00000428849.7 ENST00000006275.8 downstream downstream mismatches(1) ^(GGAATTCAAAAGTGGCGGG)TGTGGCGCGGGGCTGGTAGCGGCCGGAGCCGTGCGAGTTCTCTACCCTGCTTCGCGAGCGGGCGAGAGAACGCGAGTCCCAGGATCCCCGGCACCCAcTTCTCTTCCACTGCATTCCCCCGGCGCGTGTGGGACCGAGGTGGACATGGATCCGCAG|GCTGCCCCGGGAGACGCTGGCCTTCAGGGAGGAGCTGGATGTCCTCAAGTTCTTGTGCAAAGACCTGTGGGTGGCGGTGTTCCAGAAGCAGATGGACAGCCTGCGCACCAATCACCAG(___GGGACCTACGTCCTGCAAGACAACAGCTTCCCCCTCCTCCTCCCGATGGCCTCTGGCCTGCAGTATCTGGAGGAAGCACCCAAG___TTCCTGGCCTTCACCTGCGGCCTCCTGCGCGGCGCCCTCTATACCCTGGGCATTGAGAGCGTGGTCACCGCCTCCGTGGCAGCCCTGCCCGTCT___GTAAGTTCCAGGTGGTGATTCCGAAATCCTAAGCCTGCCTCGCACCTGCTGAGCCGCACTGCTGCCCCTGGCCTCACCGGCCTCAGGAGACGGTGGGGCCGCTGCATTTCGGGGTGGTCTTGGGAATCCCAGGCCCTAGGGGTCACATTTGCTCAGGAAGTGGGTATCAAATTGAGGTGGGGGTGTCAGAGGAGGCAAAGGGGTCCCAGCTGCGGTCAGGACTGTGGTGGGATTCCCGCCTCGGCAGCGTCACTGCCCAGTAGCTGCTCAATAAAGGCTGTGTGTGTGGAATCTGA)$ MDPQ|aapgdaglqggagcpqvlvqrpvgggvpeadgqpahqspgdlrparqqlpppppdglwpavsggstqvpglhlrpparrplypgh* 11BR028 ENSG00000154920.14 ENSG00000141279.16 +/- +/+ chr17:50380989 chr17:47569998 3'UTR intron inversion/3'-3' 7 2 0 77 3 medium . . |ERAP1-like_C-terminal_domain(100%),Peptidase_family_M1_domain(100%) . . ENSG00000154920.14 ENSG00000141279.16 . . upstream upstream . CTTCACTCACGACTTCAAGATTTGATGCTAATTCTTTTGGATTTCTACAGTTATTAAATAAGTGTCTGAGTGGACTGTCTTTGTTCCTTTGTGTTTTGAGGGCTGGCTGGGTAGGAGTGGGGGTGGTTTGTCTGTGGCAGTGAATTTTTG...ATTAAATGCCAAAGGTAGGTGGCAGTATTTCAGTCTCTGCCCCAGCCGACAGGCAGAGAGACCTTCACAAATAATAAGACCCAAGAAAGACTGGGCCTCACCTAGGCTTGTGTTCCAGGAGGTGCTGCCAGTCTCTTCATTACAGTCAGGCTCTGAGGTT|AGCAGGGTTTCCACCTCCTGTCACTCTATATTCTCTTTAAACGAACAAGCCAAGAAAAACAGGACAAAAACTAAAGATCATTCTATCCTAGAATGTAATGTATTGTTTTCCAGTTTTACCTTTTTAAAAATACCTTTACCTAGG . 11BR028 ENSG00000141527.18 ENSG00000285648.1(110225),ENSG00000266357.6(1982) +/- ./- chr17:80206887 chr17:74060131 intron intergenic deletion 2 6 0 25 13 medium . . . . . ENSG00000141527.18 . . . upstream downstream . GACACTGTCCAGCTGGACGTCCAGGAGGGCATGGGTGTTCTTTGTGGGAGGGAGAGAAGAAGTGAGTCAAGATCACAGGCCTCAGAGGAAGCAAAGGGAGCCAACGCCCAGGTCAGAAGGGC|AGGAGGTATGGGGCAGCTGTCCCTCCTGGCTGGAGAACACAGCCAGCTATGCTCCTCCCCACTGACACCCAATCCCATGTGGCACACATCTCAAGGTCTGCCCTCAGTCCATTCATCCACTCAGGCTCCAAGAGACTCAAACCCAAGTGACTGAATTGGATGGAGATTAATGCATGGGGTTGCAATCAAGTACTTTCCTCCcCACCCCCACTGCTTTCTCC . 11BR028 ENSG00000121774.18 ENSG00000284543.1 +/+ +/+ chr1:32014377 chr1:31583149 CDS/splice-site exon/splice-site duplication 0 8 0 214 27 medium out-of-frame . Qua1_domain(100%)| . . ENSG00000121774.18 ENSG00000284543.1 ENST00000327300.12 ENST00000640226.1 downstream upstream . ^(CTCTCGCTGGGTCGCTCGGGTCGGCTTCGGTCGCTACCGCTCCCGCTCTGCCACCCCCGCCAACCGCCGCTCGGGCCTCCGTCGCTGCCGCGTCGCTTTCTCGCTCCTTGGATCGCACATCCTCCCAGATGCAGCGCCGGGACGACCCCGCCGCGCGCATGAGCCGGTCTTCGGGCCGTAGCGGCTCCATGGACCCCTCCGGTGCCCACCCCTCGGTGCGTCAGACGCCGTCTCGGCAGCCGCCGCTGCCTCACCGGTCCCGGGGAGGCGGAGGGGGATCCCGCGGGGGCGCCCGGGCCTCGCCCGCCACGCAGCCGCCACCGCTGCTGCCGCCCTCGGCCACGGGTCCCGACGCGACAGTGGGCGGGCCAGCGCCGACCCCGCTGCTGCCCCCCTCGGCCACAGCCTCGGTCAAGATGGA)GCCAGAGAACAAGTACCTGCCCGAACTCATGGCCGAGAAGGACTCGCTCGACCCGTCCTTCACTCACGCCATGCAGCTGCTGACGGCAG|CACCTGCCAGGAGAACAGGCAGTGGCAGTGTGACCAAGAACCATGCCTGGTGGATCCAGACATGATCAAAGCCATCAACCAGGGCAACTATGGGTGAGAGGCCCTAGAGGCACCCT(CAGTGGGCACACATGCATACTCATGCATGTATACACGCATGC)$ MQRRDDPAARMSRSSGRSGSMDPSGAHPSVRQTPSRQPPLPHRSRGGGGGSRGGARASPATQPPPLLPPSATGPDATVGGPAPTPLLPPSATASVKMEPENKYLPELMAEKDSLDPSFTHAMQLLTA|aparrtgsgsvtknhawwiqt* 11BR028 ENSG00000121774.18 ENSG00000142910.16 +/+ +/+ chr1:32014377 chr1:31583149 CDS/splice-site CDS/splice-site duplication 0 6 0 214 27 medium out-of-frame . Qua1_domain(100%)|Papain_family_cysteine_protease(100%) . . ENSG00000121774.18 ENSG00000142910.16 ENST00000327300.12 ENST00000271064.12 downstream upstream . ^(CTCTCGCTGGGTCGCTCGGGTCGGCTTCGGTCGCTACCGCTCCCGCTCTGCCACCCCCGCCAACCGCCGCTCGGGCCTCCGTCGCTGCCGCGTCGCTTTCTCGCTCCTTGGATCGCACATCCTCCCAGATGCAGCGCCGGGACGACCCCGCCGCGCGCATGAGCCGGTCTTCGGGCCGTAGCGGCTCCATGGACCCCTCCGGTGCCCACCCCTCGGTGCGTCAGACGCCGTCTCGGCAGCCGCCGCTGCCTCACCGGTCCCGGGGAGGCGGAGGGGGATCCCGCGGGGGCGCCCGGGCCTCGCCCGCCACGCAGCCGCCACCGCTGCTGCCGCCCTCGGCCACGGGTCCCGACGCGACAGTGGGCGGGCCAGCGCCGACCCCGCTGCTGCCCCCCTCGGCCACAGCCTCGGTCAAGATGGA)GCCAGAGAACAAGTACCTGCCCGAACTCATGGCCGAGAAGGACTCGCTCGACCCGTCCTTCACTCACGCCATGCAGCTGCTGACGGCAG|CACCTGCCAGGAGAACAGGCAGTGGCAGTGTGACCAAGAACCATGCCTGGTGGATCCAGACATGATCAAAGCCATCAACCAGGGCAACTATGG___CTGGCAG(GCTGGGAACCACAGCGCCTTCTGGGGCATGACCCTGGATGAGGGCATTCGCTACCGCCTGGGCACCATCCGCCCATCTTCCTCGGTCATGAACATGCATGAAATTTAT___ACAGTGCTGAACCCAGGGGAGGTGCTTCCCACAGCCTTCGAGGCCTCTGAGAAGTGGCCCAACCTGATTCATGAGCCTCTTGACCAAGGCAACTGTGCAGGCTCCTGGGCCTTCTCCACAGCAG___CTGTGGCATCCGATCGTGTCTCAATCCATTCTCTGGGACACATGACGCCTGTCCTGTCGCCCCAGAACCTGCTGTCTTGTGACACCCACCAGCAGCAGGGCTGCCGCGGTGGGCGTCTCGATGGTGCCTGGTGGTTCCTGCGTCGCCGAGG___GGTGGTGTCTGACCACTGCTACCCCTTCTCGGGCCGTGAACGAGACGAGGCTGGCCCTGCGCCCCCCTGTATGATGCACAGCCGAGCCATGGGTCGGGGCAAGCGCCAGGCCACTGCCCACTGCCCCAACAGCTATGTTAATAACAATGACATCTACCAGGTCACTCCTGTCTACCGCCTCGGCTCCAAC___GACAAGGAGATCATGAAGGAGCTGATGGAGAATGGCCCTGTCCAAG___CCCTCATGGAGGTGCATGAGGACTTCTTCCTATACAAGGGAGGCATCTACAGCCACACGCCAGTGAGCCTTGGGAGGCCAGAGAGATACCGCCGGCATGGGACCCACTCAGTCAAGATCACAGG___ATGGGGAGAGGAGACGCTGCCAGATGGAAGGACGCTCAAATACTGG___ACTGCGGCCAACTCCTGGGGCCCAGCCTGGGGCGAGAGGGGCCACTTCCGCATCGTGCGCGGCGTCAATGAGTGCGACATCGAGAGCTTCGTGCTGGGCGTCTGGGGCCGCGTGGGCATGGAGGACATGGGTCATCACTGAGGCTGCGGGCACCACGCGGGGTCCGGCCTGGGATCCAGGCTAAGGGCCGGCGGAAGAGGCCCCAATGGGGCGGTGACCCCAGCCTCGCCCGACAGAGCCCGGGGCGCAGGCGGGCGCCAGGGCGCTAATCCCGGCGCGGGTTCCGCTGACGCAGCGCCCCGCCTGGGAGCCGCGGGCAGGCGAGACTGGCGGAGCCCCCAGACCTCCCAGTGGGGACGGGGCAGGGCCTGGCCTGGGAAGAGCACAGCTGCAGATCCCAGGCCTCTGGCGCCCCCACTCAAGACTACCAAAGCCAGGACACCTCAAGTCTCCAGCCCCACTACCCCACCCCACTCCTGTATTCTTTTTTTTTTTTTTTTAGACAGGGTCTTGCTCCGTTGCCCAGGTTGGAGTGCAGTGGCCCATCAGGGCTCACTGTAACCTCCGACTCCTGGGTTCAAGTGACCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTACAGGTGCACCACCACACCTGGCTAATTTTTGTATTTTTTGTAAAGAGGGGGGTCTCACTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGGTCCACCTGCCTCCGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACTGCACCCAGCCCTGTATTCTTATTCTTCAGATATTTATTTTTCTTTTCACTGTTTTAAAATAAAACCAAAGTATTGATAA)$ MQRRDDPAARMSRSSGRSGSMDPSGAHPSVRQTPSRQPPLPHRSRGGGGGSRGGARASPATQPPPLLPPSATGPDATVGGPAPTPLLPPSATASVKMEPENKYLPELMAEKDSLDPSFTHAMQLLTA|aparrtgsgsvtknhawwiqt* 11BR028 ENSG00000108654.15 ENSG00000127241.17 -/- -/+ chr17:64506076 chr3:187253284 CDS/splice-site CDS translocation/5'-5' 3 3 0 2929 11 medium out-of-frame . . . . ENSG00000108654.15 ENSG00000127241.17 ENST00000225792.10 . upstream upstream . ^(ACCTCATTCATTTCTACCGGTCTCTAGTAGTGCAGCTTCGGCTGGTGTCA)TCGGTGTCCTTCCTCCGCTGCCGCCCCCGCAAGGCTTCGCCGTCATCGAGGCCATTTCCAGCGACTTGTCGCACGCTTTTCTATATACTTCGTTCCCCGCCAACCGCAACCATTGACGCCATGTCGGGTTATTCGAGTGACCGAGACCGCGGCCGGGACCGAGG|AAAGGCCCCAAAACTTTTGGACCAACTTTGATCTGCAAAATATGAGAGAGAGAGAGAGAAATAGAGTGTTCCATCTGAGCAGCCAAAATGGCCACTGCAG___GAATCTAAACATTGCAGCCACATGCCAAGGAAGCAGATGCTGCTGTGCAGATGTGCATGAGTCTTGAAGACCAAGAACTGTG MSGYSSDRDRGRDRg|kapklldql* 11BR028 ENSG00000136770.11 ENSG00000233318.2(2591),ENSG00000148444.16(46451) -/- ./- chr10:21904522 chr10:22269937 CDS/splice-site intergenic duplication 0 5 0 704 14 medium out-of-frame . DnaJ_domain(100%)| . . ENSG00000136770.11 . ENST00000376980.8 . upstream downstream mismappers(1) ^(ACTGTGCAGCCCAGGCGCCGGGCGCTGCCTCTACAGCTGTGTGTAGGCCTGGGGGCGAGGGTCTTCGGAACGTAGCGCTGGCTGCGGCCCCGCCCGCCTACCCACCCGCCCGTCCGGCAGCCGGCTCCCGCCGCCTCCGCGCTCTGTCTGGGGCCAGCCACCTGGCGGGCCGCTCCGGTGCGCCTGCCCGCGCTTTTCACTGACAGGCGCTGTTCCCCACAGCCAGCGCCGCCCGCCACGTCCCAGCTCTCGGCCAACGGAGCTGCGCGGCGGGTGACCTTTCCGAGCCCAGCGCGATGACGGCTCCTTGCTCCCAGCCGGCGCAGCTTCCTGGACGCCGCCAGCTCGGGCTGGTGCCGTTCCCGCCGCCGCCGCCGCGGACGCCGCTGCTGTGGCTGCTGCTGCTGCTGCTGGCCGCCGTGGCGCCGGCGCGCGGCTGGGAGAGCGGAGACCTGGAGTTGTTTGACTTAGTGGAGGAGGTGCAGCTCAACTTCTACCAGTTCCTCGGGGTGCAGCAG___GATGCATCATCTGCAGACATCAGAAAAGCATATCGTAAGCTTTCACTAACTTTACATCCAGACAAGAATAAAGATGAAAATGCAGAAACTCAGTTTAGACAA___TTGGTGGCCATTTATGAAGTTTTAAAGGATGATGAACGAAGGCAGAG___GTATGATGATATTCTGATCAATGGACTTCCAGATTGGCGACAGCCTGTATTCTACTACAGGCGGGTGAGAAAAATGAGCAATGCTGAGCTGGCATTACTCTTGTTCATTATTCTCACAGTGGGTCATTATGCTGTGGTTTGGTCAATCTACCTGGAAAAACAACTG___GATGAACTACTAAGTAGAAAAAAGAGAGAAAAGAAAAAAAAGACTGGCAGCAAGAGTGTGGATGTATCAAAACTCGGTGCTTCAGAAAAAAATGAAAG___ATTGCTGATGAAACCACAGTGGCATGATTTGCTTCCATGCAAACTGGGG)ATTTGGTTTTGCCTTACACTAAAAGCATTACCTCACCTCATCCAG___GATGCTGGGCAGTTTTATGCTAAATATAAAGAAACAAGATTGAAGGAAAAGGAAGATGCACTGACTAGAACTGAACTTGAAACACTTCAAA|GAACTTACAGTTGGAGCCAGAAGAGTACACAGACAACTTCAGGACAGCTTAAGGAGTACAACCGAGTATGGGATACAATGAGGTACCCAAAAAATAGGGGTGAAAGAAGGTTCCCTGGTGGAGGTGAAGATCATGGGCCTCAGTCGTTAGGCAAGAAAAGT MTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVEEVQLNFYQFLGVQQDASSADIRKAYRKLSLTLHPDKNKDENAETQFRQLVAIYEVLKDDERRQRYDDILINGLPDWRQPVFYYRRVRKMSNAELALLLFIILTVGHYAVVWSIYLEKQLDELLSRKKREKKKKTGSKSVDVSKLGASEKNERLLMKPQWHDLLPCKLGIWFCLTLKALPHLIQDAGQFYAKYKETRLKEKEDALTRTELETLQ|rtyswsqkstqttsgqlkeynrvwdtmrypknrgerrfpgggedhgpqslgkk 11BR028 ENSG00000198231.13 ENSG00000213218.10 +/+ -/- chr17:63792564 chr17:63873337 intron CDS/splice-site inversion 1 2 1 219 30 medium out-of-frame . |Somatotropin_hormone_family(100%) . . ENSG00000198231.13 ENSG00000213218.10 ENST00000578681.5 ENST00000392886.6 downstream downstream . ^(CAAGAGTGTCGCTCTAGTAGTATATGCAACAGTTTAAACTATAGGCATGTTCATGTAAATATGGTTTCTGTCCAACCCGTTTTCTCTTGGGATTTTTGGCTAGCCCCTTGACGCCACTTTTTCTTCATTCGCAGACCCACTTTCTAGATGGGTCATGAACACTGTCCACCCAACTGCAGTTTCCCGTCAGAGTATCTGAGGAGCCTGTGAGGCGTTCTGGAGCTTTAAGGTCAGGCGCCTTCCGGGAGCCGTAGCCCCGGCCCCGCCCTTCTGCCCGCGCGTTCCTCACTGCGCATGTCGCGTTTTTGTTCCCCTCCCCCCTTCAGCAACGGGCCGTGAGGCGGTGGCGGTGGTGGCGGTGGCGGCGGCGGTGGTGGTGGTGGCGGCGGCGGCGGCGAAGGGGGCGGAGAGGAAGGAGCGCGGCGGGACCGGGCCGGGACAGCGCGTACTTTGGGCTCCGGGATTCGCTCCGCGCCCGCGGTTGTAGCAGCTGCCGCTGCAGCCATAGCAGCAG___GACTTCCTCAAGCGCAGGGACTATGTCTTAAGGCGCTTTGCAGAGCCAAGCTCATTTCTGGCACATAAGAG___GTCAGTCATTGGCACCATGAACTGGAATAAAGGTGGTCCTGGCACTAAGCGAGGATTTGGCTTTGGAGGTTTTGCCATCAGTGCTGGGAAAAAGGAGGAACCCAAACTCCCACAGCAGTCCCACAGTGCCTTTGGGGCAACCAGCTCTTCTTCTGGATTTGGAAAGTCAGCTCCACCACAGCTTCCTTCTTTCTACAAAATTGGATCTAAGCGGGCCAACTTTGATGAAGAAAATGC___CTATTTTGAAGA)TGAGGAAGAAGATTCTAGCAACGTTGATTTACCTTACATTCCTGCTGAAAACTCACCAACTCGCCAGCAATTCCATTCCAAGCCAGTAGATTCTGACAGCGATGATGATCCCTTGGAGGCATTCATGGCTGAAGTGGAGGC|TCCCGGACGTCCCTGCTCCTGGCTTTTGCCCTGCTCTGCCTGCCCTGGCTTCAAGAGGCTGGTGCCGTCCAAACCGTTCCGTTATCCAGGCTTTTTGACCACGCTATGCTCCAAGCCCATCGCGCGCACCAGCTGGCCATTGACACCTACCAGGAGTTT___GAAGAAACCTATATCCCAAAGGACCAGAAGTATTCATTCCTGCATGACTCCCAG(ACCTCCTTCTGCTTCTCAGACTCTATTCCGACACCCTCCAACATGGAGGAAACGCAACAGAAATCC___AATCTAGAGCTGCTCCGCATCTCCCTGCTGCTCATCGAGTCGTGGCTGGAGCCCGTGCGGTTCCTCAGGAGTATGTTCGCCAACAACCTGGTGTATGACACCTCGGACAGCGATGACTATCACCTCCTAAAGGACCTAGAGGAAGGCATCCAAACGCTGATGGGG___AGGCTGGAAGACGGCAGCCGCCGGACTGGGCAGATCCTCAAGCAGACCTACAGCAAGTTTGACACAAACTCACACAACCATGACGCACTGCTCAAGAACTACGGGCTGCTCTACTGCTTCAGGAAGGACATGGACAAGGTCGAGACATTCCTGCGCATGGTGCAGTGCCGCTCTGTAGAGGGTAGCTGTGGCTTCTAGGTGCCCGCGTGGCATCCTGTGACCGACCCCTCCCCAGTGCCTCTCCTGGCCCTGGAAGGTGCCACTCCAGTGCCCATCAGCCTTGTCCTAATAAAATTAAGTTGTATCATTTCA)$ MNWNKGGPGTKRGFGFGGFAISAGKKEEPKLPQQSHSAFGATSSSSGFGKSAPPQLPSFYKIGSKRANFDEENAYFEDEEEDSSNVDLPYIPAENSPTRQQFHSKPVDSDSDDDPLEAFMAEVEa|pgrpcswllpcsacpgfkrlvpskpfrypgflttlcskpiartswpltptrslkkpisqrtrsihscmtprppsasqtlfrhpptwrkrnrnpi* 11BR028 ENSG00000109911.19 ENSG00000230204.1(435318),ENSG00000270306.1(36708) +/+ ./+ chr11:31647849 chr6:51348574 CDS/splice-site intergenic translocation 0 3 0 112 18 medium out-of-frame . PAXNEB_protein(100%)| . . ENSG00000109911.19 . ENST00000640961.2 . downstream upstream . ^(AACACTGGAGGCTCTAAGATGGCGGCAGTGGCAACCTGCGGTAGTGTTGCCGCGAGTACTGGGTCTGCAGTGGCGACAGCCAGCAAGAGCAACGTCACCAGTTTCCAGAGGAGGGGTCCTAGAGCCAGCGTGACCAACGACAGCGGCCCTCGACTGGTGTCCATTGCGGGCACGCGACCGTCGGTGCGGAATGGACAGCTGCTGGTATCAACCGGGCTCCCAGCCCTAGACCAGCTCTTAG___GTGGAGGTTTAGCCGTTGGAACAGTTCTTCTAATTG___AGGAGGATAAATATAATATTTACTCACCTTTGCTCTTCAAGTATTTCCTGGCAGAAGGAATTGTCAATGGGCATACTTTGTTGGTTGCATCTGCTAAAGAGGATCCTGCCAACATTTTACAG___GAACTTCCAGCACCATTACTTGATGATAAATGTAAAAAGGAATTTGATGAAGATGTATACAATCATAAAACACCAGAATCTAATATTAAGATGAAAATAGCTTGGCGTTACCAGTTATTACCCAAGATGGAG___ATTGGACCAGTATCATCTTCAAGATTTGGTCACTATTATGATGCATCAAAAAGAATGCCACAAGAACTAATTGAGGCTTCAAATTGGCATGGATTTTTTCTTCCAGAGAAAATATCTTCAACTCTCAAAGTAGAACCCTG___TTCTTTGACCCCTGGCTACACAAAGCTGCTTCAGTTTATCCAGAACATCATTTATGAGGAAGGATTTGATGGATCCAATCCTCAG___AAAAAACAGAGAAACATTTTAAGAATAGGAATTCAGAATCTTGGCTCACCTTTATGGGGAGACGATATTTGCTGTGCAGAAAATGGTGGCAACAGTCACAGCCTTACCAAGTTCCTCTATGTTCTCCGTGGTCTTCTGAGAACCTCTCTTTCAGCCTGCATCATCACAATGCCAACACATCTGATCCAG___AATAAAGCCA)TTATTGCCCGTGTCACAACCTTGTCAGATGTAGTAGTTGGTCTGGAATCATTTATTGGTTCTGAGAGAGAAACTAACCCATTGTATAAGGATTATCATG|GTCTGCTGGAGTTTGCTGGAGGTCCACTCCAGAACTTGTTTGCCTGGGTATCACCAGCTGAGGCTGCAGAACAGCAAAAATTGCTGCCCCCTCCTTCCTCTCGAAGCTTTGTCCCAGAGGGGCACCCACCAGATACCAGTTGGAGC MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPALDQLLGGGLAVGTVLLIEEDKYNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKKEFDEDVYNHKTPESNIKMKIAWRYQLLPKMEIGPVSSSRFGHYYDASKRMPQELIEASNWHGFFLPEKISSTLKVEPCSLTPGYTKLLQFIQNIIYEEGFDGSNPQKKQRNILRIGIQNLGSPLWGDDICCAENGGNSHSLTKFLYVLRGLLRTSLSACIITMPTHLIQNKAIIARVTTLSDVVVGLESFIGSERETNPLYKDYH|gllefaggplqnlfawvspaeaaeqqkllpppssrsfvpeghppdtsw 11BR028 ENSG00000166750.10 ENSG00000278053.5 +/+ -/- chr17:35267807 chr17:37636731 3'UTR intron inversion 1 2 0 24 5 medium stop-codon . Putative_DNA-binding_domain(100%),Uncharacterized_conserved_protein_(DUF2075)(100%)|DEAD/DEAH_box_helicase(100%),Helicase_conserved_C-terminal_domain(100%) . . ENSG00000166750.10 ENSG00000278053.5 ENST00000299977.9 . downstream downstream . ^(CTCTGCTCTGGACTTGGGAGGCTCCGTTGCCTGCTCCCGGAGGGAGACGCGCTGCCGAGGAGAACCCAGCGG___GAGAACATTTCAGGATAGGAATAGGCCAAGTGCTGAGAAGATGAGTCTTAGGATTGATGTGGATACAAACTTTCCTGAGTGTGTTGTAGATGCAGGAAAAGTCACCCTTGGGACTCAGCAGAGGCAGGAGATGGACCCTCGCCTGCGGGAGAAACAGAATGAAATCATCCTGCGAGCAGTATGTGCTCTGCTGAATTCTGGTGGGGGCATAATCAAGGCTGAGATTGAGAACAAAGGCTACAATTATGAACGTCATGGAGTAGGATTGGATGTGCCTCCAATTTTCAGAAGCCATTTAGATAAGATGCAGAAGGAAAACCACTTTTTGATTTTTGTGAAATCATGGAACACAGAGGCTGGTGTGCCACTTGCTACCTTATGCTCCAATTTGTACCACAGAGAGAGAACATCCACCGATGTCATGGATTCTCAGGAAGCTCTGGCATTCCTCAAATGCAGGACTCAGACTCCAACGAATATTAATGTTTCCAATTCATTAGGTCCACAGGCAGCTCAGGGTAGTGTACAATATGAAGGTAACATAAATGTGTCAGCTGCTGCTTTATTTGATAGAAAGCGGCTTCAGTATCTGGAAAAACTCAACCTTCCTGAGTCCACACATGTTGAATTTGTAATGTTCTCGACAGACGTGTCACACTGTGTTAAAGACAGACTTCCGAAGTGTGTTTCTGCATTTGCAAATACTGAAGGAGGATATGTATTTTTTGGTGTGCATGATGAGACTTGTCAAGTGATTGGATGTGAAAAAGAGAAAATAGACCTTACGAGCTTGAGGGCTTCTATTGATGGCTGTATTAAGAAGCTACCTGTCCATCATTTCTGCACACAGAGGCCTGAGATAAAATATGTCCTTAACTTCCTTGAAGTGCATGATAAGGGGGCCCTCCGTGGATATGTCTGTGCAATCAAGGTGGAGAAATTCTGCTGTGCGGTGTTTGCCAAAGTGCCTAGTTCCTGGCAGGTGAAGGACAACCGTGTGAGACAATTGCCCACAAGAGAATGGACTGCTTGGATGATGGAAGCTGACCCAG___ACCTTTCCAGGTGTCCTGAGATGGTTCTCCAGTTGAGTTTGTCATCTGCCACGCCCCGCAGCAAGCCTGTGTGCATTCATAAGAATTCGGAATGTCTGAAAGAGCAGCAGAAACGCTACTTTCCAG___TATTTTCAGACAGAGTGGTATATACTCCAGAAAGCCTCTACAAGGAACTCTTCTCACAACATAAAGGACTCAGAGACTTAATAAATACAGAAATGCGCCCTTTCTCTCAAGGAATATTGATTTTTTCTCAAAGCTGGGCTGTGGATTTAGGTCTGCAAGAGAAGCAGGGAGTCATCTGTGATGCTCTTCTAATTTCCCAGAACAACACCCCTATTCTCTACACCATCTTCAGCAAGTGGGATGCGGGGTGCAAGGGCTATTCTATGATAGTTGCCTATTCTTTGAAGCAGAAGCTGGTGAACAAAGGCGGCTACACTGGGAGGTTATGCATCACCCCCTTGGTCTGTGTGCTGAATTCTGATAGAAAAGCACAGAGCGTTTACAGTTCGTATTTACAAATTTACCCTGAATCCTATAACTTCATGACCCCCCAGCACATGGAAGCCCTGTTACAGTCCCTCGTGATAGTCTTGCTTGGGTTCAAATCCTTCTTAAGTGAAGAGCTGGGCTCTGAGGTTTTGAACCTACTGACAAATAAACAGTATGAGTTGCTTTCAAAGAACCTTCGCAAGACCAGAGAGTTGTTTGTTCATGGCTTACCTGGATCAGGGAAGACTATCTTGGCTCTTAGGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAACCGGCTAACATTCTCTACATCTGTGAAAACCAGCCCCTGAAGAAGTTGGTGAG___TTTCAGCAAGAAAAACATCTGCCAGCCAGTGACCCGGAAAACCTTCATGAAAAACAACTTTGAACACATCCAGCACATTATCATTGATGACGCTCAGAATTTCCGTACTGAAGATGGGGACTGGTATGGGAAAGCAAAGTTCATCACTCAGACAGCAAGGGATGGCCCAGGAGTTCTCTGGATCTTTCTGGACTACTTTCAGACCTATCACTTGAGTTGCAGTGGCCTCCCCCCTCCCTCAGACCAGTATCCAAGAGAAGAGATCAACAGAGTGGTCCGCAATGCAGGTCCAATAGCTAATTACCTACAACAAGTAATGCAGGAAGCCCGACAAAATCCTCCACCTAACCTCCCCCCTGGGTCCCTGGTGATGCTCTATGAACCTAAATGGGCTCAAGGTGTCCCAGGCAACTTAGAGATTATTGAAGACTTGAACTTGGAGGAGATACTGATCTATGTAGCGAATAAATGCCGTTTTCTCTTGCGGAATGGTTATTCTCCGAAGGATATTGCTGTGCTTTTCACCAAAGCAAGTGAAGTGGAAAAATATAAAGACAGGCTTCTAACAGCAATGAGGAAGAGAAAACTGTCTCAGCTCCATGAGGAGTCTGATCTGTTACTACAGATCGGTGATGCGTCGGATGTTCTAACCGATCACATTGTGTTGGACAGTGTCTGTCGATTTTCAGGCCTGGAAAGAAATATCGTGTTTGGAATCAATCCAGGAGTAGCCCCACCGGCTGGGGCCTACAATCTTCTGCTCTGTTTGGCTTCTAGGGCAAAAAGACATCTGTATATTCTGAAGGCTTCTGTGTGACAGGAAACCCAAGCCTAAGAAACAATTAAGTGGTTCTCATCTCTAATTAACTGTGAAACCATTTAATCCAAACATGTAAGCACACACTCACTTATTAAGTCACATACTTTTCTAGGTGCTGGGGATTGAGAACGAATCGATGTAAGATTCCTCCTTTAGGGCAGAGACAGACCACTGACAAATACACAGATAGACAAGGAATTTCCCATGGTAAAAAGGGATATCAGTAATTAGAGGACCGTGAGACTCAGAGATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCACGTGCACATGTGTGTAGGTAGATGGAGGGGGTGATTATTTTGGGTGGTCAGGGAAGTGCTCAGTGAGGGAAGAACTTGTCATGAGAATCTCTGAGCGTGCCAGGCAGACTCGGATATTTTTATAAATTTTTAACATGGCCACTTGCAGAAGAGCTTGAATGGGACGTGCAGCGAGAATGTGAAGGATGGAGCAGGTAGCTCATCTGGCCTTGTAGGTGCCGGGAACGGGCAAGACATGTTTTGAAATGTAAGATCACAGACTGTTTTTTGCAAGACCACATTATATTACTTTATTATTTTCTGCTTTTTCTTTTAACGACATTAGTGTTTTTGATCACTATATTTTAAAATGCTTTTTGTGAGCCTTTTGGTTATGTGGAATCTGTTCCTTAGCTCTGATTTTTTATTCTTATGGAGCGTCTTAGGTTACTACATGAAGGTAAGACTGCCACAGTCCCCCAGGGAGGCACACTGTGTTTTACTGATTGATTTGAAGATGATAGAGAGCCTAGGGGGATGAGTCTATTGGACTCAAAGGTTACATTTTGTTTTTCCATTTAATTTAATAATCAACAAAACGACAAAGTCAGTTTAATATCTTTCTTCTGCTGAGTCTTCAGGATGTTAGCTAGTCTTTCAAAAGCCATTGCTACAAAAGTGCAAATTTCTCATTTCCTGTGGGTCTCTAGAAACTCTCTCAATATTTAAAGCCAAACAAATCCATCTTTTCTGAGAGACAGAAACTAAAAAATTCAGAGTTAATTCACTATTAAAAACAGCAAGGCCCTGCTATTTCCCAAGAATAAAGAAATTTAAAATTCTCATTGTAAGAAGTATGAACTTGAAGCTAGAATTGGTTTATTTCTGGCAGCTACTTACAATATTAAGAACTTTACTTTTTAAATTTGAGACAATTTCACAGGAAAGCAAGAAATTAGTCTATTGTGAAATGTTTTTACAACTAACTTGGAATATACTGCAAATCACTAGTAAGTAGAGACACATTTAAGATAAAATGATTAATAAAACAATTGGTAATTCTGAATAAGGATCTGAATAAATCCAGATCACAGACTGTTCCTTTACCAATATGTAAAAGAATGTGCAAAATTAGTAAAAATATACCCAAAAATTTACCAGCAACAGAGAAGCAAAGAATGGAGTTCAACCTTACACTATAAACATCTAATAGATATGTATGAAAATTTAAAAACTAGAAAAGGTTGGGCATGGTGGCTCATGCTTGTGATCCCAGGACTTTAGGAGGCCAAGGTGGGAGGATTGTTTGAGCCCAGGAGTTCAAGACCAGCTTGAGCAATATAGTGAGACCCTGTCTCTACAAAAACAAACAAACAAACAAACAAATAAATAAATAAATAAAATTAGCTGGGAATGGTGATGCACACCTGGAGTCCTAGCTACTCAGAAGGCTGAGGCAGGACGATCACTTGACCTCAGAAGTCTGAGGTTACAGTGAGCTATGATCATACCAGTGCACTCCAGTCTGGGTGACAGAACAAGACCCTGTCTCCAAAAATTAAATAAATAAAACAAAAAAAAAGAA)TTTAAAAGTTTTATATAAAGGCATAGCTACTATCTCATCTGCCCAGTGTAGTCAT|TTGTAAACAGGTGATTTCTTTGTCCCCATAAACTTTTCATAAAGCATCAGTGATTTCACTATTCTTCTACCGAAGCTTCACTGTAAATTTGGAGTTTGTTCTTGCTTCAGTTTTAAGCAGAATTCATGTTGCTGTTTTCAAACTGCTGTCTTATCCTTCTTAGTGTCTCAGACTAGATCTAGTTCACC . 11BR028 ENSG00000182389.19 ENSG00000258098.2 -/- -/- chr2:152098330 chr14:25145542 CDS/splice-site exon/splice-site translocation 3 0 0 27 6 medium out-of-frame . . . . ENSG00000182389.19 ENSG00000258098.2 ENST00000638005.1 ENST00000668310.1 upstream downstream duplicates(1) ^(GTCCCGGGAGTCGGCGGCCCCGCTCCCCCCACCCCTCCTCCACGTCCCTTTCTCCTCCCGCTCCTCCTCTTTCTCCTCCTTCTCTTCCTCCTCCTCCTCA)CCCTCCTTCGGGTCTCTGCGCTCCCGCTCCGGAGCCCGCAGCCTCCCCCAGCGGATGCCGGGGACTCGGACCCCGCACCCTGAGAGTCTTTGTTAATGGATGTG___GTGGCCCGAGGCACCACAACCCGGAGGAGCAGGTTGAAAAGATCCGATGGCAGCACCACTTCGACCAGCTTCATCCTCAGACAG|ATTCATTCCTCTGAGGACCCTCAAGTACTTCAGAAGAACTAAAAAATGAATATCACGTTACACCAAAGAAGAAATGAAAGCTGCCAG(TGTCTTCTGAAGTTAAACAGGCTCCTGTTCTTTGACCCAGCAATCCAATCCTAG___AGGCGGGAAGTCCAAGATCAATCAAAGTGTTGGCATCGGTTTATTGTGAGCTGTTCCTGCGAGGGAAGGATCTGTTCCAG___GTATTTAATTGTTCCCTGAGGTTTAAGGCAGTGGACTGAGGATAATACAGGCTCCAGCTTTCATTAGTTCAATGGATGATGCTGTTCAATCCATACTGTTTGGGGCATTTGTTGAAAATGTCATTCAGAAGATATCAACACTTTCTGAGTCATGGTTTGATTGAATTTATAGAATTATGTGATAGAAACCACATTCTTCACAAAAGTCACAAGGCAATAATGACGACAAGGGTTGAAGATGAAAGATGCCAAATATTCTGATCAATTCAATAAGGCAAAAAGACAAGTTAATTCACTCAGTGCTCCAGGCATCAACTTCATAGAAGGAATGGAAATTCTACCTGTTTCCTAAAGAACTACAGAG___GTGTACACCAAACGGAGGGCAAATGCTGTTACCACTCATCGTGCAAGACTTTTGAGGCAATTTGGACATAGACAAGTGATGGGAAAATTGAATCATTATATGGCTCATGACAGTGTTGAAAACTCAAACATCCAAGGACCTGTACCTTTGCTAAGTGCCATGCATATGTTGCTGATAAAGATGCAATAAATACTCTTTTGTTAAATTA)$ MDVVARGTTTRRSRLKRSDGSTTSTSFILRQ|ihssedpqvlqkn* 11BR028 ENSG00000182389.19 ENSG00000258098.2 -/- -/- chr2:152098330 chr14:25155828 CDS/splice-site exon/splice-site translocation 1 1 0 27 2 medium out-of-frame . . . . ENSG00000182389.19 ENSG00000258098.2 ENST00000638005.1 ENST00000668310.1 upstream downstream . ^(GTCCCGGGAGTCGGCGGCCCCGCTCCCCCCACCCCTCCTCCACGTCCCTTTCTCCTCCCGCTCCTCCTCTTTCTCCTCCTTCTCTTCCTCCTCCTCCTCACCCTCCTTCGGGTCTCTGCGCTCCCGCTCCGGAGCCCGCAGCCTCCCCCAGCGGATGCCGGGGACTCGGACCCCGCACCCTGAGAGTC)TTTGTTAATGGATGTG___GTGGCCCGAGGCACCACAACCCGGAGGAGCAGGTTGAAAAGATCCGATGGCAGCACCACTTCGACCAGCTTCATCCTCAGACAG|AAAATAACTTCTGCACATaCAGCATTAGGAAGCAGTGTTTCCCAACCACTACATTTGAATG___ATTCATTCCTCTGAGGACCCTCAAGTACTTCAGAAGAACTAAAAAATGAATATCACGTTACACCAAAGAAGAAATGAAAGCTGCCA(GTGTCTTCTGAAGTTAAACAGGCTCCTGTTCTTTGACCCAGCAATCCAATCCTAG___AGGCGGGAAGTCCAAGATCAATCAAAGTGTTGGCATCGGTTTATTGTGAGCTGTTCCTGCGAGGGAAGGATCTGTTCCAG___GTATTTAATTGTTCCCTGAGGTTTAAGGCAGTGGACTGAGGATAATACAGGCTCCAGCTTTCATTAGTTCAATGGATGATGCTGTTCAATCCATACTGTTTGGGGCATTTGTTGAAAATGTCATTCAGAAGATATCAACACTTTCTGAGTCATGGTTTGATTGAATTTATAGAATTATGTGATAGAAACCACATTCTTCACAAAAGTCACAAGGCAATAATGACGACAAGGGTTGAAGATGAAAGATGCCAAATATTCTGATCAATTCAATAAGGCAAAAAGACAAGTTAATTCACTCAGTGCTCCAGGCATCAACTTCATAGAAGGAATGGAAATTCTACCTGTTTCCTAAAGAACTACAGAG___GTGTACACCAAACGGAGGGCAAATGCTGTTACCACTCATCGTGCAAGACTTTTGAGGCAATTTGGACATAGACAAGTGATGGGAAAATTGAATCATTATATGGCTCATGACAGTGTTGAAAACTCAAACATCCAAGGACCTGTACCTTTGCTAAGTGCCATGCATATGTTGCTGATAAAGATGCAATAAATACTCTTTTGTTAAATTA)$ MDVVARGTTTRRSRLKRSDGSTTSTSFILRQ|kitsahtalgssvsqplhlndsfl* 11BR028 ENSG00000004142.12 ENSG00000141298.19 -/- -/- chr17:28350438 chr17:29706553 CDS/splice-site intron duplication 2 1 0 378 6 medium out-of-frame . ApaG_domain_(100%),Hemimethylated_DNA-binding_protein_YccV_like(100%)|DEK_C_terminal_domain(100%),Dual_specificity_phosphatase__catalytic_domain(100%) . . ENSG00000004142.12 ENSG00000141298.19 ENST00000540200.6 . upstream downstream . ^(AGTGTGGGACTGGGGCGGAACGCCGCCCGGCCGCGGGTCGGGCTCTGTGTCAGCAGCCGGGCGGGCGCTCGGGCGGGACATGGCAGCCTGTACAGCCCGGCGGGCCCTGGCCGTGGGCAGCCGCTGGTGGTCCCGGTCGCTGACTGGGGCCCGGTGGCCAAGGCCGCTCTGTGCGGCGGCCGGAGCTGGAGCCTTCTCGCCAGCGTCGACCACGACGACGCGGAGGCACCTCTCGTCCCG___AAACCGACCAGAGGGCAAAGTGTTGGAGACAGTTGGTGTGTTTGAGGTGCCAAAACAGAATGGAAAATATGAGACCGGGCAG___CTTTTCCTTCATAGCATTTTTGGCTACCGAGGTGTCGTCCTGTTTCCCTGGCAGGCCAGACTGTATGACCGGGATGTGGCTTCTGCAGCTCCAGAAAA___AGCAGAGAACCCTGCTGGCCATGGCTCCAAGGAGGTGAAAGGCAAAACTCACACTTACTATCAGGTGCTGATTGATGCTCGTGACTGCCCACATATA___TCTCAGAGATCTCAGACAGAAGCTGTGACCTTCTTGGCTAACCATGATGACAGTCGGGCCCTCTATGCCATCCCAG___GCTTGGACTATGTCAGCCATGAAGACATCCTCCCCTACACCTCCACTGATCAGGTTCCCATCCAACATGAACTCTTTGAAAGATTTCTTCTGTATGACCAGACAAAAG___CACCTCCTTTTGTGGCTCGGGAGACGCTAAGGGCCTGGCAAGAGAAGAATCACCCCTGGCTGGAGCTCTCCGATGTTCATCGGGAAACAACTGAGAACATACGTGTCACTGTCATCCCCTTCTACATGGGCATGAGG___GAAGCCCAGAATTCCCACGTGTACTGG___TGG)CGCTACTGTATCCGTTTGGAGAACCTTGACAGTGATGTGGTACAGCTCCGGGAGCGGCACTGGAGGATATTCAGTCTCTCTGGCACCTTGGAGACAGTGCGAGGCCGAGGGGTAGTGGGCAGG|GTTGTTCCCGTAATGTGAGTGGAACAGAGTGACCCACAGTAGGGTGGCATGTGAACACCACGGTTGTAACAAGAGAGAAGGCTTGTGCAACAGACCAC MAACTARRALAVGSRWWSRSLTGARWPRPLCAAAGAGAFSPASTTTTRRHLSSRNRPEGKVLETVGVFEVPKQNGKYETGQLFLHSIFGYRGVVLFPWQARLYDRDVASAAPEKAENPAGHGSKEVKGKTHTYYQVLIDARDCPHISQRSQTEAVTFLANHDDSRALYAIPGLDYVSHEDILPYTSTDQVPIQHELFERFLLYDQTKAPPFVARETLRAWQEKNHPWLELSDVHRETTENIRVTVIPFYMGMREAQNSHVYWWRYCIRLENLDSDVVQLRERHWRIFSLSGTLETVRGRGVVGR|vvpvm* 11BR028 ENSG00000161526.15 ENSG00000073849.15 +/+ +/- chr17:75671863 chr3:186977191 CDS/splice-site intron translocation/5'-5' 3 0 0 462 9 medium out-of-frame . . . . ENSG00000161526.15 ENSG00000073849.15 ENST00000584667.6 . downstream downstream . ^(ATAGGAGTGAGCCACGCCCGGGCTGTGGGAATAAGATGGCGGGGAAGAAGAAT)GTTCTGTCGTCTCTCGCAGTTTACGCGGAAGATTCAGAGCCCGAGTCTGATGGCGAGGCTGGAATCGAGGCGGTGGGCAGCGCGGCTG___AGGAGAAAGGCGGATTGGTATCTGATGCCTATGGGGAGGATGACTTTTCTCGTCTAGGGGGTGATGAAGATGGTTATGAAGAAGAAGAAGATGAGAACAGTAGACAGTCG___GAAGATGACGATTCAGAGACTGAAAAACCTGAGGCTGATGACCCAAAG|GGGCAGTTTCAGCAGAAGGCTTCAGAGACCCCCGGAAGCAGAC MAGKKNVLSSLAVYAEDSEPESDGEAGIEAVGSAAEEKGGLVSDAYGEDDFSRLGGDEDGYEEEEDENSRQSEDDDSETEKPEADDPK|gqfqqkasetpgsr 11BR028 ENSG00000008294.21 ENSG00000141179.14 -/- +/+ chr17:51014232 chr17:55767335 CDS/splice-site CDS/splice-site inversion 2 1 0 329 35 medium out-of-frame . JNK-interacting_protein__leucine_zipper_II(100%),JNK_SAPK-associated_protein-1(100%)|START_domain(100%) . . ENSG00000008294.21 ENSG00000141179.14 ENST00000262013.12 ENST00000573500.5 upstream upstream . ^(GGCAGTTGGTGCAGCGGCGGTTGGGGTGAGAGCGCCTACGCCACCCCTCCCCTCCTCCGGCCCCGGCCCCCACCCCGCCGGGCCCAGCCCCAGCCCCGGCCCGGGCTCCAGCCCTAGTACCCGTCCCAGCCCGAGTCGGGTCCGTCCCGTGCGGGCAGGTGCCGCCCCTCTGCCGGCGACGCCCCGGGCCGCCCGCCCGTCCGCTTGCCACCATGGAGCTGGAGGACGGTGTGGTGTATCAGGAGGAGCCCGGCGGCTCCGGGGCCGTGATGTCGGAGCGGGTGTCCGGCCTGGCCGGCTCCATCTACCGCGAGTTCGAGCGGCTTATCGGGCGCTATGACGAGGAGGTGGTCAAAGAGCTGATGCCGCTGGTGGTGGCTGTGCTGGAGAACCTGGACTCGGTGTTCGCGCAGGACCAGGAGCACCAGGTGGAGCTGGAGCTGCTGCGGGACGACAACGAGCAGCTCATCACCCAGTACGAGCGGGAGAAGGCGCTGCGCAAGCACGCTGAGGAG___AAATTCATTGAATTTGAAGACTCTCAAGAACAGGAAAAAAAGGACTTACAGACCCGAGTGGAATCTTTAGAATCTCAAACAAGACAACTTGAGCTGAAAGCGAAAAACTATGCTGACCAGA___TTAGCAGACTTGAAGAAAGAGAAGCAGAACTGAAGAAGGAATATAATGCATTACATCAAAGACACACTGAG___ATGATCCATAATTATATGGAACATTTAGAAAGAACAAAACTTCATCAGCTCTCAGGGAGTGATCAACTAGAATCCACAGCTCATAGTAGAATTAG___AAAAGAACGCCCTATATCATTAGGAATTTTCCCATTACCTGCTGGAGATGGATTGCTTACACCTGATGCTCAGAAAGGAGGAGAGACCCCTGGATCTGAGCAATGGAAATTTCAGGAATTAAGTCAACCACGTTCTCATACCAGCCTGAAG___GTCAGCAATAGTCCTGAACCTCAGAAGGCTGTAGAACAGGAG___GATGAGCTTTCTGATGTTAGCCAAGGCGGATCTAAAGCTACCACTCCAGCATCAACAGCTAATTCAGATGTGGCAACAATTCCTACTGATACTCCCTTAAAGGAAGAAAACGAAGGATTTGTGAAGGTTACAGATGCGCCAAATAAATCAGAGATAAGCAAACACATTGAAGTACAGGTAGCCCAGGAAACTAGAAATGTATCTACTG___GCTCTGCTGAAAATGAAGAAAAGTCAGAAGTTCAAGCAATCATCGAATCTACTCCTGAGCTGGATATGGACAAAGATCTCAGTGGATATAAAGGTTCAAG___CACTCCCACCAAAGGCATAGAGAA)CAAAGCTTTTGATCGCAATACAGAATCTCTCTTTGAAGAACTGTCTTCAGCTGGCTCAGGCCTAATAGGAGATGTGGATGAAGGAGCAGATTTACTAG|AAGACTGGACTTTATGAGTATAAAGTCTTTGGTGTTCTGGAGGACTGCTCACCAACTCTACTGGCAGACATCTATATGGACTCAGATTACAGAAAACA(ATGGGACCAGTATGTTAAAG___AACTCTATGAACAAGAATGCAACGGAGAGACTGTGGTCTACTGGGAAGTGAAGTACCCTTTTCCCATGTCCAACAGAGAC___TATGTCTACCTTCGGCAGCGGCGAGACCTGGACATGGAAGGGAGGAAGATCCATGTGATCCTGGCCCGGAGCACCTCCATGCCTCAGCTTGGCGAGAGGTCTGGGGTGATCCGGGTGAAGCAATACAAGCAGAGCCTGGCGATCGAGAGTGACGGCAAGAAGGGGAGCAAAG___TTTTCATGTATTACTTCGATAACCCGGGTGGCCAAATTCCGTCCTGGCTCATTAACTGGGCCGCCAAG___AATCAGAGCAGAACCAAGCGGGAAGCTCAGAATCAGAGAGACCTCATCAAGTTTTTGGCAAACCCAAACATTCTGCAATAGATTGAGTGGAAGGAAGAGGAAGGACATAAAGATAAAGACATGAGAAAAGAAGCTGAGTCTTTGTTGAAACACTGAAATGGGTGCAGGTATCATTTCTTATCTCATTGTTTTTTCTCATAAGCCCTGAATTAATTCATTTATTCACAGTATTTTCGCAGATGTGAAATTCACATATTATTCACAGATGTGTTCACTATCATCTATGTACTGGAAAGATAGCAGTGAATAAAATGGACAAAATTACCTGCC)$ MELEDGVVYQEEPGGSGAVMSERVSGLAGSIYREFERLIGRYDEEVVKELMPLVVAVLENLDSVFAQDQEHQVELELLRDDNEQLITQYEREKALRKHAEEKFIEFEDSQEQEKKDLQTRVESLESQTRQLELKAKNYADQISRLEEREAELKKEYNALHQRHTEMIHNYMEHLERTKLHQLSGSDQLESTAHSRIRKERPISLGIFPLPAGDGLLTPDAQKGGETPGSEQWKFQELSQPRSHTSLKVSNSPEPQKAVEQEDELSDVSQGGSKATTPASTANSDVATIPTDTPLKEENEGFVKVTDAPNKSEISKHIEVQVAQETRNVSTGSAENEEKSEVQAIIESTPELDMDKDLSGYKGSSTPTKGIENKAFDRNTESLFEELSSAGSGLIGDVDEGADLL|edwtl* 11BR028 ENSG00000004142.12 ENSG00000264031.1 -/- +/- chr17:28350438 chr17:29706553 CDS/splice-site intron duplication/5'-5' 2 1 0 378 6 medium out-of-frame . ApaG_domain_(100%),Hemimethylated_DNA-binding_protein_YccV_like(100%)| . . ENSG00000004142.12 ENSG00000264031.1 ENST00000540200.6 . upstream downstream . ^(AGTGTGGGACTGGGGCGGAACGCCGCCCGGCCGCGGGTCGGGCTCTGTGTCAGCAGCCGGGCGGGCGCTCGGGCGGGACATGGCAGCCTGTACAGCCCGGCGGGCCCTGGCCGTGGGCAGCCGCTGGTGGTCCCGGTCGCTGACTGGGGCCCGGTGGCCAAGGCCGCTCTGTGCGGCGGCCGGAGCTGGAGCCTTCTCGCCAGCGTCGACCACGACGACGCGGAGGCACCTCTCGTCCCG___AAACCGACCAGAGGGCAAAGTGTTGGAGACAGTTGGTGTGTTTGAGGTGCCAAAACAGAATGGAAAATATGAGACCGGGCAG___CTTTTCCTTCATAGCATTTTTGGCTACCGAGGTGTCGTCCTGTTTCCCTGGCAGGCCAGACTGTATGACCGGGATGTGGCTTCTGCAGCTCCAGAAAA___AGCAGAGAACCCTGCTGGCCATGGCTCCAAGGAGGTGAAAGGCAAAACTCACACTTACTATCAGGTGCTGATTGATGCTCGTGACTGCCCACATATA___TCTCAGAGATCTCAGACAGAAGCTGTGACCTTCTTGGCTAACCATGATGACAGTCGGGCCCTCTATGCCATCCCAG___GCTTGGACTATGTCAGCCATGAAGACATCCTCCCCTACACCTCCACTGATCAGGTTCCCATCCAACATGAACTCTTTGAAAGATTTCTTCTGTATGACCAGACAAAAG___CACCTCCTTTTGTGGCTCGGGAGACGCTAAGGGCCTGGCAAGAGAAGAATCACCCCTGGCTGGAGCTCTCCGATGTTCATCGGGAAACAACTGAGAACATACGTGTCACTGTCATCCCCTTCTACATGGGCATGAGG___GAAGCCCAGAATTCCCACGTGTACTGG___TGG)CGCTACTGTATCCGTTTGGAGAACCTTGACAGTGATGTGGTACAGCTCCGGGAGCGGCACTGGAGGATATTCAGTCTCTCTGGCACCTTGGAGACAGTGCGAGGCCGAGGGGTAGTGGGCAGG|GTTGTTCCCGTAATGTGAGTGGAACAGAGTGACCCACAGTAGGGTGGCATGTGAACACCACGGTTGTAACAAGAGAGAAGGCTTGTGCAACAGACCAC MAACTARRALAVGSRWWSRSLTGARWPRPLCAAAGAGAFSPASTTTTRRHLSSRNRPEGKVLETVGVFEVPKQNGKYETGQLFLHSIFGYRGVVLFPWQARLYDRDVASAAPEKAENPAGHGSKEVKGKTHTYYQVLIDARDCPHISQRSQTEAVTFLANHDDSRALYAIPGLDYVSHEDILPYTSTDQVPIQHELFERFLLYDQTKAPPFVARETLRAWQEKNHPWLELSDVHRETTENIRVTVIPFYMGMREAQNSHVYWWRYCIRLENLDSDVVQLRERHWRIFSLSGTLETVRGRGVVGR|vvpvm* 11BR028 ENSG00000148400.12 ENSG00000233016.7 -/- -/- chr9:136517272 chr9:136722315 CDS/splice-site exon duplication 1 1 0 13 44 medium out-of-frame . Calcium-binding_EGF_domain(100%),EGF-like_domain(100%),Human_growth_factor-like_EGF(100%)| . . ENSG00000148400.12 ENSG00000233016.7 ENST00000651671.1 ENST00000414282.5 upstream downstream . ^(ACTAGTGCCTCGGCCGCGGGAGGGAGCGCAAGGGCGCGGGGCGCGGGGCGCGGGCGCGGGCGCGAGCGCAGCGAAGGAACGAGCCGGGCGCGGAGCCGGGCCCGGGGGCCTGCGAGAGCACAGCGCCGCCAGCCAGCCGGGGAAGAGAGGGCGGGACCGTCCGCCGCCGCCCCGGGACCGTACGCCGCGCGTGTGCGTCCCAGCCCCGCCGGCCAGCGCAGGAGGCCGCCGCCCGGGCGCAGAGGGCAGCCGGTGGGGAGGCATGCCGCCGCTCCTGGCGCCCCTGCTCTGCCTGGCGCTGCTGCCCGCGCTCGCCGCACGAG___GCCCGCGATGCTCCCAGCCCGGTGAGACCTGCCTGAATGGCGGGAAGTGTGAAGCGGCCAATGGCACGGAGGCCTGCGT___CTGTGGCGGGGCCTTCGTGGGCCCGCGATGCCAGGACCCCAACCCGTGCCTCAGCACCCCCTGCAAGAACGCCGGGACATGCCACGTGGTGGACCGCAGAGGCGTGGCAGACTATGCCTGCAGCTGTGCCCTGGGCTTCTCTGGGCCCCTCTGCCTGACACCCCTGGACAATGCCTGCCTCACCAACCCCTGCCGCAACGGGGGCACCTGCGACCTGCTCACGCTGACGGAGTACAAGTGCCGCTGCCCGCCCGGCTGGTCAG___GGAAATCGTGCCAGCAGGCTGACCCGTGCGCCTCCAACCCCTGCGCCAACGGTGGCCAGTGCCTGCCCTTCGAGGCCTCCTACATCTGCCACTGCCCACCCAGCTTCCATGGCCCCACCTGCCGGCAGGATGTCAACGAGTGTGGCCAGAAGCCCGGGCTTTGCCGCCACGGAGGCACCTGCCACAACGAGGTCGGCTCCTACCGCTGCGTCTGCCGCGCCACCCACACTGGCCCCAACTGCGAGCGGCCCTACGTGCCCTGCAGCCCCTCGCCCTGCCAGAACGGGGGCACCTGCCGCCCCACGGGCGACGTCACCCACGAGTGTGCCTGCCTGCCAG___GCTTCACCGGCCAGAACTGTGAGGAAAATATCGACGATTGTCCAGGAAACAACTGCAAGAACGGGGGTGCCTGTGTGGACGGCGTGAACACCTACAACTGCCGCTGCCCGCCAGAGTGGACAG___GTCAGTACTGTACCGAGGATGTGGACGAGTGCCAGCTGATGCCAAATGCCTGCCAGAACGGCGGGACCTGCCACAACACCCACGGTGGCTACAACTGCGTGTGTGTCAACGGCTGGACTGGTGAGGACTGCAGCGAGAACATTGATGACTGTGCCAGCGCCGCCTGCTTCCACGGCGCCACCTGCCATGACCGTGTGGCCTCCTTCTACTGCGAGTGTCCCCATGGCCGCACAG___GTCTGCTGTGCCACCTCAACGACGCATGCATCAGCAACCCCTGTAACGAGGGCTCCAACTGCGACACCAACCCTGTCAATGGCAAGGCCATCTGCACCTGCCCCTCGGGGTACACGGGCCCGGCCTGCAGCCAGGACGTGGATGAGTGCTCGCTGG___GTGCCAACCCCTGCGAGCATGCGGGCAAGTGCATCAACACGCTGGGCTCCTTCGAGTGCCAGTGTCTGCAGGGCTACACGGGCCCCCGATGCGAGATCGACGTCAACGAGTGCGTCTCGAACCCGTGCCAGAACGACGCCACCTGCCTGGACCAGATTGGGGAGTTCCAGTGCATCTGCATGCCCG___GCTACGAGGGTGTGCACTGCGAGGTCAA)CACAGACGAGTGTGCCAGCAGCCCCTGCCTGCACAATGGCCGCTGCCTGGACAAGATCAATGAGTTCCAGTGCGAGTGCCCCACGG|GAGAGCTGCCTGACCTTGAGGAAGCcGAGGGTCATCTCCCGGAATTCCTTGATGGAGG(TGCCCCGGGTGGGCTTGTCAAACAGTACCAGCTCCCGCCGGGGGGCCGCATCCGACCGGGCCTTGGAGTCGAGGGTCTCCTCAATGCCACACTTGATGGTTACATCCTTGTCCCGCCAGAGCCCGCTGTACACCTGGACAGGGCCACAGAGGTCCTCCGTGCAGACATCCCCCTCCCACTGCACGGGCAGTATCAGCCCCAGGCCCACCCGCCCTGCCAGTGGCTATACCTGCTGGCCCGGGGCCACCGAGAGGCAGGTCCTCCACTCCACCATATGCAGCTCACACAGGTCCTGGCAGACGGAGCCCGAGATGATCCCCTTGCGGTACTGGTCACACTGAGGAGACAGGTGCAGGCGTGCCGGGCGGGGCAGCCACACCCCTGCCCCACTGAGCCCCTGCCCACAGGCCCGAAGCTGGCAGGGGCCTCCACTTGCTGCAGTTGGAAAGCTGCCAGCCCCTCACACAGGCAGTGCCGGGGCCCTGGGTCATGCCATTGGTGGCTGCAGGATGGGGCTGTCGGCTGCAGGGGCAGCCCCGCCAACCCTCCGGTCCGGTCCCGTCCCCACCATCCTGGCTCCTGTAACAGGACGGCACAGCAAAGGCCACTGCCTGGACATGAGACACACACCACACCCAGTGTCGACCCCACGCCAGGGCCAGAGGCAGGAACCTGGAGGCAGCTCTCCGCCCAGCCGACCCAGCTCTGGACCATCCAGGCATTGGCCGGTGAACTAGAATTCACACTAGTCCCTAATATCTACACCACCAGCTGCCACACGCGCGCTCTCTGCCTGACTCTTCATTCCTGCCTCGGGTGACGCCAGGAGGGAGGATGCACCCCCTGACTCATGGCGCCCTCCCTGCCCGGAATAGTAAGTGAGACATTTCTG)$ MPPLLAPLLCLALLPALAARGPRCSQPGETCLNGGKCEAANGTEACVCGGAFVGPRCQDPNPCLSTPCKNAGTCHVVDRRGVADYACSCALGFSGPLCLTPLDNACLTNPCRNGGTCDLLTLTEYKCRCPPGWSGKSCQQADPCASNPCANGGQCLPFEASYICHCPPSFHGPTCRQDVNECGQKPGLCRHGGTCHNEVGSYRCVCRATHTGPNCERPYVPCSPSPCQNGGTCRPTGDVTHECACLPGFTGQNCEENIDDCPGNNCKNGGACVDGVNTYNCRCPPEWTGQYCTEDVDECQLMPNACQNGGTCHNTHGGYNCVCVNGWTGEDCSENIDDCASAACFHGATCHDRVASFYCECPHGRTGLLCHLNDACISNPCNEGSNCDTNPVNGKAICTCPSGYTGPACSQDVDECSLGANPCEHAGKCINTLGSFECQCLQGYTGPRCEIDVNECVSNPCQNDATCLDQIGEFQCICMPGYEGVHCEVNTDECASSPCLHNGRCLDKINEFQCECPT|gelpdleeaeghlpefldggapgglvkqyqlppggrirpglgvegllnatldgyilvppepavhldratevlradiplplhgqyqpqahppcqwlyllarghreagpplhhmqltqvladgarddplavlvtlrrqvqacragqphpcpteplptgpklagastccswkaaspshrqcrgpgschwwlqdgavgcrgspanppvrsrphhpgscnrtaqqrplpghethttpsvdptpgpeagtwrqlsaqptqlwtiqalageleftlvpniyttschtralcltlhsclg* 11BR028 ENSG00000175198.17 ENSG00000125246.15 +/+ +/+ chr13:100112061 chr13:99858861 CDS/splice-site CDS/splice-site duplication 1 1 0 37 20 medium in-frame . Biotin_carboxylase__N-terminal_domain(100%)|HpcH/HpaI_aldolase/citrate_lyase_family(100%) . . ENSG00000175198.17 ENSG00000125246.15 ENST00000376286.8 ENST00000376355.7 downstream upstream . ^(GGCATCGGGTTTCTGGCTCGTGATTTGCCGGAGCTCCTGCGCTCCCCTTCTCCACCCCCTCCGGCTGTGTGAGAGGTCAGCAGAGGGGCGGTCTGCGGGGACAACAATGGCGGGGTTCTGGGTCGGGACAGCACCGCTGGTCGCTGCCGGACGGCGTGGGCGGTGGCCGCCGCAGCAGCTGATGCTGAGCGCGGCGCTGCGGACCCTGAAG___A)CTTTTGATAAAATTCTTGTTGCTAATAGAGGAGAAATTGCATGTCGG___GTTATTAGAACTTGCAAGAAGATGGGCATTAAGACAGTTGCCATCCACAGTGATGTTGATGCTAGTTCT|AATGAAGCTCGACTGAGAATTGTAAAAACTCTTGAAGACATTGATCTGGGCCCTACTGAAAAATGTGTGAGAGTCAACTCAGTTTCCAGTGGTCTGGCGGAAGAAGACCTAGAGACCCTTTTGCAATCCCGG(GTCCTTCCTTCCAGCCTGATGCTACCAAAGGTGGAAAGTCCTGAAGAAATCCAGTGG___TTTGCAGACAAATTTTCATTCCACTTAAAAGGCCGAAAACTTGAACAACCAATGAATTTAATCCCTTTTGTGGAAACTGCAATGGGTTTGCTCAATTTTAAG___GCAGTGTGTGAAGAAACCCTGAAGGTCGGGCCTCAAGTAGGTCTCTTTCTAGATGCAGTCGTTTTTGGAGGAGAAGACTTTCGAGCCAGCATAG___GTGCAACAAGTAGTAAAGAAACCCTGGATATTCTCTACGCCCGGCAAAAGATTGTTGTCATAGCGAAAGCCTTTGGTCTCCAAGCCATAGATCTGGTGTACATTGACTTTCGAGATGGAGCTGGGCTGCTTAGACAGTCACGAGAAGGAGCCGCCATGGGCTTCACTG___GTAAGCAGGTGATTCACCCTAACCAAATTGCCGTGGTCCAGGAGCAGTTTTCTCCTTCCCCTGAAAAAATTAAGTGGGCTGAAGAACTGATTGCTGCCTTTAAAGAACATCAACAATTAGGAAAG___GGGGCCTTTACTTTCCAAGGGAGTATGATCGACATGCCATTACTGAAGCAGGCCCAGAACACTGTTACGCTTGCCACCTCCATCAAGGAAAAATGATCTGTTAAATGAAGCTGTCATCAGGTGGGCTGAACATATACAGTGGGGTTCTTAAAGACAAACCACAATACTCAAAGCAACTTGTTAGGATGCCAGATTGGGACCTGACTCCATTTACAGTTCATGTTAATCACAATTTTGTTGTTGTTGTCTCACTGGCCAGTTATTCCCCTAAAAAAATGAACGCTTTTCCCTTTGGATCCAAGCTTATGATTTTATCATTTTTAGTGTATTACGAATATGGGCTTATGATTTCACAGGGAGGTAAGATCCTGGGGAAAGATGGGCTGTGAGGCGAAGGTAGGTCTTTAATGAAATGGATCTTTCCCAAATAGACATATTCCCTCCACCCTTCTCATGTTAGTAAATGTTTCCTGCTTGTTCATTTATACAGCTGACACCACAAATAATTTTAAGAAAAGCCAGGCCTTTAAAACATAGTAGCAACATTAAGGGGTCATCTCTATTTCACTAGTAATCTGATAAAACAACAGAGATGGCATCAAAAAAGAATACTAAGTATTATATTGGCTTAAAAAGACACTTTCTGAAAATAAACTTTCGAAACTGGTTACTATTAACCTCCACCCCTAAAACGAAACATCCATCTCCTTGAACCGCTAGACGATGAACACGAAAGCTGTCATCCTGGGTGAATGCTGTGAGTCAACCATTACCGGCAATTAAAAAATAAATGTGCAGAAACACAAGACCATCCATTCTCCCCCTTTATTTTCCCGTTTAACTGTTTGCCATTGAGGCTATTTCCCCCTGGAAATGTATGGCTGGGACAGGACTCCCTCAGTCATAAACTTGTAGCGTCTCAGAAGACACAATGCACCCGAGCTGGTGCATGTGGCCCCTGCGAGATTTGCATCACATTAGAGATGCGGCTGCAGGTCAGATGGGTGGTGTGGTTAACGGGCTTAGTAAAGCTGTTTTGAAGAGGTTAACCCAGCTTGTAGTAAGGGTAAATAAACATAACAACCAGCCATTGTTCCCTATTCAGCATGTACTCTTATATTGAAGGCTAAAGGGTATTGAAGCTGCAGAGGGATCAACTTGTGCTTGCCAGAGGACGCCAATGAAGTTTGAAACACCAACAATCAGAGATTTTGTTTCTGTTCCTCATTAAATCATGAGCTTTTGTGCCGAGACTCTGGACGACTGTTCCTTAAGAAATTAACAGAATGGGAAGTTTTAAACTCTACACCAACCTTTTCATGACCTACACAGCAGCAACGCTGCTACTCTTAGACAAACACCGCGGGGAAGGCTGTTCTGTTTATTTAAATTTGTAAATAGAAAACAGTTGTTTTTTACTTTCATTTTTCACCTCCTCCTACGCCCTTTTGGATTATTTCCTCTGCGGCCCCTAGCATGAGCCCCAACCAGGCCTCCCCTTTTCCCCACTTCTCTCAATTCCCACAGGAAGCCCGAGAGGTGAGGAGCTGAGGTTAGACACCAGGAGAGGCACCATCACACAAAAGCGCGGCCGCAGAGTCCCACCGCCACCAGGCGACCCCCACCCAGAGAGGGACAGACATGCGGGGAGCCAGCACCGGGCAAGATGGCTCTGGGGATCCTCATTCTGTGAAGACACCAACTCATTTCTCAAACACAGGATCCAGGAGACAGATAGCTCCTAAATGGAGATGGCACATGCTCCGTGGGGTCCCTCATAGAGGAGTGCCACCCTCCACACTGGCCACGCTGGGCTGCCCCAGAGCGGCCAGAAAGGAAGGTGGGAGCTAGCCCCATCCTCACTCAGAGGCCGGAAGGAGGAAGATGGCATCTCGCCAACTTCAGAGCCGAATGGCCTCTAGCCACACTGCTTCCAGACCCCAGACGGGGCAGCAGCAGCAGTTCCCAGAGGAGCACCCATTGTTGCAGCTAGGACCCACCAAGGATGGGACTCCTGGAGTCAGGTGCACACCAGGTAACCCAGGACCACGCTGTGCACCCCCAGTCTGCCCCTCTGCTCAGAACACAGAGGGATGGGAGGATGGCTTGGCAGTGGGAAGGCAAAAGAAGGCCTCTCTCACTCTGCCCCTGCCATACGCACCCGCTGAGGGTGTTAGAAGCAGTGGAGGCAGAGCTGGCCCTAAGCAAAAGAAGAAAATAAACCTCACCTTGTCCTTCCTATGGGCAGCCCTCACCCCAATCTAACTAACCTTCCCATCCTCCAGCCTAATCCAAAGAAGCCCTTGGCTTGAGGGGATGAAGGGCTTGCGTTCTAGTCTCCACCCCAGCCCCACAGGCAGCCAGCCAGCCAGCCCCACACAGAGGGGCCTCCTCAAGGCCTCACTGGGAGCCTCCTGTCCCCAGCCAAGGAGCCCTACAGACCTGGGGAAAAGCAGGCCCCTCCGCAAGGCCCCTGGGTGGTGCGGAGGCCGGACCGGCTAGGCCTCCCGCTGCTGGCCACTCCCAGGCCACGGGTTCCTAGGTCCCAACCACATTGGACTGCTCGCCACGCCACTGCCCTCATCCCAAACTGCTTTGTTCAAACAAAACCACCTTGTTTCAGTCTCCCCAAATGTCCAGTTCATTATCTTCCTCATAACCCATGGTCCCTATTAGGGTAGGATCATGAGACTAAGACCTATGAGAGCCACAAATCTGGACCAAAGTCCCATTCCCTGAACAGAGACCCAAACGACGAGGGTCCCAGAAGAGAGTTCAGTCCTGATCAGAAACCCATGGTGCCTTAGTCCTTGAAGAACAAAACTCTAGGAAGAAGATGCTGGAAGGCAAAGGGTATTCCCCCTCTTTCCCCACCCGCGTCTCTGTGGTGCCATGGGTGGGCCCAGGTACCCTGGGAAAGGTGGGAGAGCAGTCAAGGGTGGGTGTGTGATCTCCACTGGGCTCACTGGGCACCCCCGACACGGGGAAGTGAGAGCTGCCCGACTCCTGAGCCAGGCGTGGGTGACAGGAAGAGGACCTTGCAGCTAATCTGATTCATTAGAAACCATACCTGTTTATGTTTTGTGTAGCTCATCACAAGCCGCTTAGCCATATCACCCCCGTTATTAATTCTTGGGGTCTAAATTATGGGTAACACTATTAAAACATTATCAGAACTAATGAGAAACAATTACTTAGAAAATGAGCCGGGACAAGACTGAGTTGGGAACATCAGTGGTGATCACTGTAGATTAGTTTAATAAATCATCAGGTGCAAGGCAAGACTGACTGTATGTATGCAAAGCCCCGTCACGGGAAAATGAAATTGAGATTTTTTTTTTTTGCATAATTTTTTCATTAATCTCAATAGGACCCGTGTGGTGTAGATTGCTTTATTCCCCTAATACCTTGCCTGAGGCGGGGGGGGGGGGGGGTGCCCAATAATGTCTTCATTGTTTTACTGAGGTCTTAATGACAATCTGTGACAACCTCATTTTAATGTATAGAGGATTATATCAATACAGTCATGTTTTATTGAAATGGTGAAGGGAACTCCAGTCAGAGTCAGGCAGTGTCTGTGAGCACAAGTTAGGAAGTTTCTCGGCATCCGGGAGCGTTCCCGTCTGATGTCCCAGTGTTAGTCCTCCCGGCCGCCCTCCCCTCCTCTCCTCCAGGGACGGCTGGGAAAACAGTCCTGCGGGATGAAGACTTCACCGCCTCCGATTTGAATTTGAAAGTAACTCCTTCCGTGGCATATTTCGCTGGGCAGATAGAACAAACCATGTCGTTTTCCCCCGTCTCTAAAATAGACATATTATTATCATTCACACTTTTGCACCCGGTCGTTTTGCGGGAGTTCGGGAAACTGACTTTCTTCATTGGGGACATTGTAATTTTCTGATGATGCCACGAGGAGAAAAAAAATACGGGTTTGTTTTAATTGGAAGGACCTTCCGCTTTTATGATTTCGGTTTACCTTGGAAAACTGAATCTTCTGTGTTTTATTTCTTTCCTCTAGTACTAGAAAAGCAATGAATTAATTGCACAAAACAGGTTCTGAGACGGCCCGCAGGCCCCGAGCTCGTGGACGCGGCCGAGGGTCGGGTGTGACCCGCGGAGCCGCTGCCAGGCTTCCCAGCTCGTCTTCGCGGGGAGGCGGGAGGCAGGACCAGACCCCAGCATTTCAGCGTGAAAGTCTTCGCCTTTCTTTCCGCGCTGTCTTTCCCGCGGGCGGAGCGGCGTACCTGAGCGCGGTCCCCACGGAGGATCAGTGACTTTCCCAGACCCCGCGGGCGAGCCCGCGCTTGGGACCCGGCAGCTCTGCGCGGGCTGGTTTTGGAGGGGGTGGTGTTCGTTTGTTTAAATTCCAGTTGTTATTTGGCAGCATATCGCCTTCCGAGTCAGTAAGAATTGCCCACGACGTAAAGAGCGACTTGCAGGAAGGGGCCGAAGCCGTCGTTAGCGCCCGGGCGGCGGCGGCCACTCGAACCCCGTTTCCGCCAAGCGCGCTGCAACCTGCGGGGCGAGTTCGTTTTGTTTTGCCAAAATCATTTGGGGACTTCTTTGTCATTCATGCCCTTCCTTTTAAATGATTTTTATTTTTTTCCACTGTAAGTGACCGGCTGGGTTTGACTTTTGCTTCTTCCGACGGAAGGGCACCGCGAGCCGGGGTGGGCGGCCCCGCGGGCAGGAGGAGCGCGGGGTACACGCGGTGGCCGCAGACGCCGAGCCCTGCGGAGCCCCGAGGCCTCGTCGCCCGCGCCCCCGGTGCGCGCGGAGCCGGGGCCGAGGCCGGGCCAGGAGGAGTGTGGCGGCCCAGGAGGCCTGGACTGTGGGCCCTGCTCGCCCGCCCGCCGCGGGCCGCCCGGAGCCCGCGCGCCTGTCGCGCAGCCCGGCTGTAATGGTGGCAGATCAAAGGCGGCCCCGTGTCCCCGCGGAGCCCGGGACAATCCCGCGCCTTTGTGCGCTGTTGCTAGGAGCCCGAGAAACTAAGAGAAAGTGTCAGGAGCATGTTAATCAGACTCGTTACACTGTAACAATAACGTCTCTCTCGGGTCTCCCAGGCCCCAGTACCCCCGCGCACCCTGCGCGCAGGCCGGACACCTGCGCAGGGCCCTTGCGCCCGCCCTGGGGTCCCGCCGGCCCTGGGGTCCCTGCAGCCCCGAATCCGCACCCGAGCCACGCGGAACGACTAGCCCCGAGGGGCCCCGCAGGCTCCCGGTGCAGCTCCCTGGTCGTGGTCTCCTTGACCGAAGCCCCGGCCTCACACCGCCTGGCCGCGAGCCCGAGGGACGCAGGGACGATCCCGGTCCCCTGCTTTTCAGTCCTCCAGTCGAATCGCCCACTTTGTTCAATCACAGTATTCGAATCAAGAGGAAAATGAACATTCCCTTTATGGTAGCTTTTTGGTTATGAGTTTTGGCAAAACTGTTAAATCAACTTTGCCGATTTCCCTTGGGAATCCCTGGAGGCCACTCTAAGTGGTAATCCCAAGTTTAAGAAGGAAATGGGGAAATTTTGCTGAGAGTAAAGATGTCGCCGAACTTTTTGAAGGGATTTGCTTCATTCATTCATTTAGTCATTCAACAGACACCTGTTGAACCCGACTGGGTGCCAGAGGGGCCAGTCACAGGACTTATTCCAGATGAACTTTTCTTTTGAAATTAGAATGCCCTTGTGGAAGCCAAAGGAGGAGCAGAGGCCTAAAATAATGTCAAGTGTCAAAGCAAAAAGAAGTGCCATTGGCTACTACAGTGTGTGATGATAACAAGAGAGGTGCGAATTAGGAATTAAAAACGTTTGAAAAACTACAGGCCA)$ MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASS|NEARLRIVKTLEDIDLGPTEKCVRVNSVSSGLAEEDLETLLQSRVLPSSLMLPKVESPEEIQWFADKFSFHLKGRKLEQPMNLIPFVETAMGLLNFKAVCEETLKVGPQVGLFLDAVVFGGEDFRASIGATSSKETLDILYARQKIVVIAKAFGLQAIDLVYIDFRDGAGLLRQSREGAAMGFTGKQVIHPNQIAVVQEQFSPSPEKIKWAEELIAAFKEHQQLGKGAFTFQGSMIDMPLLKQAQNTVTLATSIKEK* 11BR030 ENSG00000169403.12 ENSG00000182256.13 -/- +/+ chr1:28193722 chr15:27350206 5'UTR/splice-site intron translocation 25 41 2 179 108 high . . |Neurotransmitter-gated_ion-channel_ligand_binding_domain(100%),Neurotransmitter-gated_ion-channel_transmembrane_region(100%) . . ENSG00000169403.12 ENSG00000182256.13 ENST00000539896.1 . upstream upstream duplicates(12),mismatches(1) ^(GCTGCTGCTCATTGGAGGGTAG)AGCAGAGTGAGTCACACACCTGTGCCTGGGCCCGTCCTCTGCCTCCTGTGCACTCATTACCTGCTTCCTGAGCTCCCCGAGAAGTCATCCAGGACCTCCCCGAGAAGCCGTCCAGGAAACATGCTCTCAGGGGACCCCCATCTGCCTCAGCCTCTTTGTCACTGCCTGGACCATTGTCCCTGCTGTTTCTCAG|ATCACCTCCTCGGAGACTCGCTTCCATTCGTGGGGAAATGAAGGCTCAGAGAGGTTGCATTTGCCTCCATGGGGCCCACAGAGCTGGCTGGTGGTTGCTGTGAATTGGGAAATCACATTTTCTGACTTCTCATCGCGTGTTCTCACTACTCAACACTGGGAGGAACCATTGAATTAAAAGTTCAAAATCAACTCGA . 11BR030 ENSG00000169403.12 ENSG00000182256.13 -/- +/+ chr1:28193722 chr15:27480650 5'UTR/splice-site CDS/splice-site translocation 3 7 0 179 19 high . . |Neurotransmitter-gated_ion-channel_ligand_binding_domain(100%),Neurotransmitter-gated_ion-channel_transmembrane_region(100%) . . ENSG00000169403.12 ENSG00000182256.13 ENST00000539896.1 ENST00000615808.5 upstream upstream inconsistently_clipped(1) ^(GCTGCTGCTCATTGGAGGGTAGAGCAGAGTGAGTCACACACCTGTGCCTGGGCCCGTCCTCTGCCTCCTGTGCA)CTCATTACCTGCTTCCTGAGCTCCCCGAGAAGTCATCCAGGACCTCCCCGAGAAGCCGTCCAGGAAACATGCTCTCAGGGGACCCCCATCTGCCTCAGCCTCTTTGTCACTGCCTGGACCATTGTCCCTGCTGTTTCTCAG|ATGGCTATCCCAAAGAAGAAATGATTTATAGATGGAGAAAAAATTCAGTGGAGGCAGCTGACCAGAAATCATGGCGGCTTTATCAGTTTGACTTCATGGGCCTCAGAAACACCACAGAAATCGTGACAACGTCTGCAG___GTGATTATGTTGTCATGACTATATATTTTGAATTGAGTAGAAGAATGGGATACTTCACCATTCAGACATACATTCCCTGTATACTGAC(TGTGGTTTTATCCTGGGTGTCATTTTGGATCAAAAAAGATGCTACGCCAGCAAGAACAGCATTAG___GCATCACCACGGTGCTGACCATGACCACCCTGAGCACCATCGCCAGGAAGTCCTTGCCACGCGTGTCCTACGTGACCGCCATGGACCTTTTTGTGACCGTGTGCTTCCTGTTTGTCTTCGCCGCGCTGATGGAGTATGCCACCCTCAACTACTATTCCAGCTGTAGAAAACCAACCACCACGAAGAAGACAACATCG___TTACTACATCCAGATTCCTCAAGATGGATTCCTGAGCGAATAAGCCTACAAGCCCCTTCC___AACTATTCCCTCCTGGACATGAGGCCACCACCAACTGCGATGATCACTTTAAACAATTCCGTTTACTGGCAGGAATTTGAAGATACCTGTGTCTATGAGTGTCTGGATGGCAAAGACTGTCAGAGCTTCTTCTGCTGCTATGAAGAATGTAAATCAGGATCCTGGAGGAAAGGGCGTATTCACATAGACATCTTGGAGCTGGACTCGTACTCCCGGGTCTTTTTCCCCACGTCCTTCCTGCTCTTTAACCTGGTCTACTGGGTTGGATACCTGTATCTCTAAGTGTTGCTCAGAGTGAAGAGTGAAGAGCATTTGGTACACACTTGACCTTCTGTCGTCCCCAGACCAGTAGTGACCAATCGGGAGTAGCAAGGAAGGACACTGCCCAGTGTATCTTGTTATAAATGACCTTTCAGCAACACAGGAAGTACCCAGCAAAGGTTTCTATTATGTATTTTACACACACACATACATACACACACACAGCTAATTGAGTTTTAAAGTAATATTCTTGCTAATCCCTACTGAATTGTAGCTTGGTGTTGTTTCTGAATGGTTTTTGGATATTGGAAGCAGCCGCTGATTACCCTTGCAAAGAAATCTGTAAAATGTGCACGTGAATGTCTGAGATGCTCTCTCAGGCCTCTAGTCCTTCTGTATCTTTCCTTTGCAGCCCTGGGTGTAGTAGCACTCAGGAGTGTTGAATCACCCCTGGCCGAGACCCACTCCTGCTGGCTCAGCCTGGGCATGTGTGTGCTCCAGTGTGAACAGCAGTGGGTTCCAACCCCAGTCTCCTTTCTCTGTGGCCTCTCTGGCTCCAGCACCATCATCGTTAGCTGGCACTCCTTTACCTAATAACCTCGTTCTAGGCCTGGGGAGAGTACACTCGCATTGTCTACGGTTTCCATTGGAGGAGAAAATAAGATTTTCAAAATGCTCATGTTGTTGGGGTCAAAGATGATTATCTCTGAACATCAGAAGGTTATTACTTTATTCCAACTTACTGAGAGTCAACAATATTTGAACTTTGGGTTCTTGGACTAGTTCAACAGCATTTCACCTTAAGAGCTGTTTTTCACTAGACCAACGCTCAACCCTCGAGTATGTGTCCAGCTTATGTTATATTATTATGGGTTCGGTAATTGTCATTTTGCAAAGAAAGGTATACAGTGAACACAACCTGTTATCTTGAAGACATACACCGGAATGTGAAAGACATGTAGATAAAATTTTATTTTTATTTTATTTTTTTGAGACAGAGTCATGCTCTGTCACCTGGCCAGGCTGGAGTGCAGTGGCACAATCTTAGCTCACTGCAACCTCTGCCTCCCATGTTCAAGCGATTTTCCTGCCTCAGTTTCCCAAGTGGCTGGGACTACAGGTGTGCGCTACCACACCCGGCTAATTTTTGTATTTTTGTTTTTTGTTTTTTGGGTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCTGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCGGCCAAAATTAAAAAAAAAAAATTAGTGAATATTAATTTTCAACTCAAACCAACTTTAGATGCAAAAAAATGGGCAATGGTGATCATCAAGTACATATTTTGATGAACAAGATTATTTTATACTTTGAAATATGGATACATAGCAAAATCCCAAAGAAAAAATATCCCCCCAAATCAATACTCTTTTGATATTTTTATAATACAAAACCAACTTGCTGCTTGCTGTTAGTTCTTTGTTATAACTGGATGCCAATGTGAACTGCAGAAGACTGTTTTGAAACTTCTCCTCACCAATAGGCAAAACACAAGTCCTACCAGTTAGTTAATAATGCTTTGGCATTGTTAAAATTTGAAACCAGAATCTCTGTGCTTCTCATCTTTCTCACATAGAAAACTGAATTAATTTGACCTAGAAACCGTAATTTTTAAAATTATCTATTGTGCATACCATAATTACCCAGAAACGTAAAATATTTTGCAGAGAAAGTATAGAAAAGTATCAATTTCACACAATGTCCTGGATGTATACCAGACACAGAAGAGGATGGGAGCAGAAGAGGCCAGAAAAAGTGAAATTAGATTCATCTGCTTATTCCTATTAAGATTGTTGCATATTAAACGGATGCAAAGATATAGATATGTCTGAATTTCCAAAGATGGAGTCTATACAGCGTGAGACATTCAAACCCATTGTTTCTCTCCCTGTCAACTCTCTGTCTTTTGGTTTGGTAGTTGCTACATAATCCACAAGCCAATTGGCTTCAGTTTAGCAAATTCAGTTTTAAAAATAAAAGAGTATTTGTGGAGAAACAGGTTGAAAATATTGTCTTAGATGCAATGTCTCCTCTATTGGAGAATTTCACACTCTGGTACTCTAGTTCTGTCTCTCATGCATAAGCAACCCCCGCCTTGGCAGAAGTATTCTGCAAGGACCCTGACCAAAGGAATCCAAGTCACACCACAGCACTGAGCGCCAAGGGAAGGTGGCCCAAGGGCAGTCTTAAGACACAATGTCAAACGTTATGAATGGGTAATTTCTAACAAGCTGAAGAACTGCAACCTGCTACATTGTAAACGAAGTTCTGGAGAGAACTGAATTTTCTAGAAAAATTCTTATTGGGAGGAAAATAACCTAAAACAACTTTTTATAACATGGATTTGTTTGATTTTACCTTAAAAGAATTTTACTGATGCCTTGTGTTTCAAAACCACTCAACATTTGGATATTGTTAGCAACCCTCCTGAAATTTTACATGTAGGATAAATACACCAATAACCTCAGTTTTCTGAATCCAGCCATTCTCTTCTTCCCAACCTCAGCAGCCCTCCTGATCAAAACAGATGAGTTCAGCGCTCCTTTTCTAGGAAGGAGAACCTTCATCTCAAGAAAGTCCAATGGATTTCACTAACTGAGCATCATAGTGTGGATTCCTGCATATACAGCAGGCTCCCCACTAGGGGGTCTCAATAAAAAGAGCTAAAGCACCCCCTAAGAGCATGTCCATGCCGGGTTCTCCGCAGGCTTGCATAATTCAAGTTCTCCATATCAGTCTCAACTCCTGAGATGAGCCTTTTCAGTCCACAATGAGGAAGAGATGGGTGTGCCTTGGTGAGGTGCAGAGCTCAGGGGATTTTTAATCATGTACATGTTTACTTTCTAGAGGAAGGAGAGGAGCAGTGTGGGGAGAGTGGGAAGGAAGTACGCTTTCTTTCACTAAAGACTCTCTTTGCCAGGATGCCTGATCAGGAGGGACGTGTGTGGGCACGAGGTGCAAGGCTGTTCCACACAGCTAAGCCCCAGCTTGCTTTGCATGCAGAATTGGGAAATATTTGGGGTGGAAGTTGTCTGAGTGATCTGCATTCCAAAGGTGCTACTGTGTTCCTCACTTTCAGAAATACTCTAAGTTGAGGAGATGACAGTTCTGTATTTTGACATGGAATCCAAATTTCTGACCACTGTGGATCACACTTAAAACTGTGACTGTCTGTCTTTTAAGCTGCATACTGGGTGGGGGGAAAGCAAAGAAAAGGCATTTCACATTAATGGAATTGGAGAAAAATGTCTCTTCAGAGCCTAGAAAGCTTCAGCTTCTGCAAAGTCCCAACACCACCTACCAGAACAGAGACTCCCTACATACCAGACAGAGAAGGACAAAGTTAGTATAATTTACTCTGGACCCAGCCAATACTGCCCCCAATTTACCCAAAACATGCCTTAAAATGAAACAGAAAGCTCAAATAATACACATCTTTTAAGATTTTCCATTTCCTGCAGTTAGCTATATTTCATGCCAAGTTTTATTTATCTTTTATGAATGGATGGAAATAGGATTTCATTTCTTTATATGCCAAACAGTCTTACCCTTAATTTTACATCAAACCAATTAAGTACAAAGATTTTGCAGGCTCTTTGACTGAGAAAATGCGTGTTCTCAAGAGCAAAGCATTTTCACTCTACATAAGGGAAATTGGGGCCAATCTAAAATGTCAGCAACACAGTCCTGATGGGGATGAGTGTCTCTAATAGAAACTCCGCACCAAATCATTTTACCTGGTGATAGCTTGCTGCAGTAAGTTTGCAGGCATGTTGCTTCGTTGTTCTGCAATATAACCACACTCGAAGCAACAGGAGAGGGGCCGGTAACCCATTCTGCATTGACTCCAGCTCCCTATGACTAGGAAGCAATGAGCCACTCTATCTAAAGGGCTAGAACACAAAACAGACAAAACCTCTTCTTCCTTGATCATTTTTATCTCAGCTGCCAAAATGGAAATTTTCTGTGATTTCCTTTGAGACTTGAAGAATTACACCTGGTCTCCAACCATTATTCTTATCACCGTATCGGTTCAGTGCTCTCAAGGCACAAAGCACTTGGAATTCACTCCATGATCTTGCAACTCTTTTTGAGTGCTTTTCCTGAGCGATTTTAAACTCTACCCGTAAGAAATTTCATCTGCAATTTCTGTAAAAAAAAAAAAAAAAAAAAAGAATGGCTTAAGCTCCACATAATCTGATGTAAATATACATTGAAACGTTAAGTTCTATTTGTACTGAAACACTGTCCACCTTAGACTTTAGAACACTATCATTTAACAGATATTCAGAAAGGTTCCGGAAATACGGGGGAAAGAACCAGACTACGAATACATTGGAAATGTTAAATTTACAATATTCTCCTGAGCCCCCTTCCAATTTCCCAAAATTGAGAAAGTGTGTAATCTGTACCTATTTTTTTTCTCAAATTGGCCTGGAGGAAACATTCAGGTTCAGAGAGTTTAGCAGTGCCTCTATGTTTGTGTTCTCTGTGTAATCACATGAAAGAACCAACAAATAACTCTTCAGGATAAATGACACCTGCATCGCTGATCCCTTGTTGACTTATGTTTTATTATAAAAATAGATCTCTATCATTATAGGGATAAAACGTGTATGTTTTGAGATGATTTGGTAAGAACTCAGCCATTCAGTATTTCTGGAAGAATTAAAAACTTGGCTTTCTTTTTCTTAATGTCTAATAGTTTTGAAGACTAGATATTAGGGCATTTTCTTTCCTCCTTTTAAAATTTCTACTGATTACAAGCTAGCAATTTCAGGATATCAGCTTGATCTAGTTGTATTAAGGCCAAAAGGCAGACTTTCTTTATATTTATTTTTATTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTGAGATGAAGTTTTACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCTTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATGTCTGGCTAATTTTTTATATTTTTAGTAGAGATGGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAACCTGTATTTACTTTTTTAATGCCACCTAGCTGAATAATGCTTTGGGTTTTACTGTTGTCAATAAAACCCCTTATACCTTTTATTGTCCTGCTTACTTATAAAAGCCAAATTTTAGGCGAACTTAAATAAATCAGTGCTGAAAAACTAGTTGAACAATCAGTCACTGACAAGTTTTCAATGTTTTGAGTTAACCAAGTGGGCTTTTCAGATTAGGTTATTCAAGAGCATGAGCTAGAAAATAATTAGGCAGACAAAACATATGTTCTCACACACACACCACTTCCAAAACAGACATGATTTGAATGTAGCATTCAGGTTATTGAGGTGAACGTAAATTGCTTTGCTTGAACAATTGAGATAATCACCTACTTTCGCCACTTCACTTTTCACATTTGTAAACACACACAGGGTTTTTCCAGCCCAGTGAGCAGGCTACACAATGTGAGGATGATAATGGTTCCTGCAGGGAAGCCAGAGCCTCTATGTCTGCCGAACAGTTTAAATTGAACAGGTTGGAAAGAACATTGATTGCCAATAATTAAATGCCCCAGACTGAGCAGGTAGCTGCTACATTTTCTCTTCTCTTTTCTAGTTATTCAGGGTTCCTTCTTTGATTTTCATGAGAAAGGAACATTTACACTTCCTGTGAGGGGCTTAGACTCCGATTTCTCCCAGTTGCCTCACTTACTGAAGTTCGATCCCAGTGAATGATGTGTATGTACCCAACACATCCAATTTGTATTTTCTTAAATATGTGTTTCTTAGGTATCTAAGGATACATGAGCGAGCCCACAGCACAATTATTGCAGTCCCCAAGATGTCAGTCTTCTCAAAATGACAACATTGTCACTAACCACTTTTTAAAAAAGAACTGAAATTCCCATTTTTTGTTAAACGTTTTTCCAATACATAGCAATGTGTAAAATAGACTCCCAAATCTCCTTTGGGAAAGGAACCTGTGGACCCTGGAGCTAAGTTGTCATTTTAGGGACATGGTGATAATCAGGACTGATGCCAGTAAGTGGGAAGTTCATTACGGCAAGGCAGTGGGAAGGTGCCAGCATCCCCTTTCCACCTGAGATGGGCTGAATTTTCACCCGGAAGTCTGAAGCCTCTGGAAGGGCAGGTGGAATCGCTCCTGGCAAGGGCATGACCGTGCACAGGCTGACATGATTTTCCTTTTGGGTGGATTGGAGTTTTACAACTGGATTCATTAGCACACGTGTGGGAACATGTGCCTGTGCCCACCCACAGCACTTCCTTGGAACTCTAAGCTGCTTCTCTAATCTAAGGAGGTCTATTCGAAAGGATAGTGCTTGACTTTCAATTTATAAAAGATTATTGGAAACACCTTAAGTAGTCCTAACCCACTGTCAGCTTCCAATTTTCAGGAGCAAATGATGACTGCTTTGATTTGGTTAGGCTTTCTTACAACAGGTTTTTATAAAATATTGTTTATATTTGTAACAGGAAGGATTTTCAATGTCAATTTCATCCATGAGTGAAGACCCCCCACTGCACAGAGCAGCACTTCTGTCACTCTCATGGGGAGATCAGGGTACCCACTCCTCTACGTAGCTTGGCAGACCCAGACCACCCTGAGCCAGCCTGCCACATCCGCTAGTCCATGCACCTCCAGGGTGGCCTTGGGAGCTACAGAGAGGAAAAAAAGAAAAAATGTTGCATTCTTAAGCAATTAAAGACTCCTTCCAATGTAATTAAAAAATAAGTAATGTGGCAAAAGATGCACATAACTTGCTCCCTCAAGTTCTAAATTGTCACCAAATATGAAAGGTTTTTAGATGAAGTACATCTACATCATAACCATCATCACCCTCATTGTCCTCTTCCATGTTTCTACTAGTACTCAGCTATTGATTCAACACAAAGGCTTAGAGCCTTTTCTGAACTATAACGAAATCAGAACTTACATCGTGGAAAAAGCGAAAAAGTTTCATTAGAGTTTAAACATTAAGTATACAGATCCTACTCCAAAATTTTGCTCGCCTAAAACATTTCCAGAACTGCTGTGTTCCCCAGCAGTCCTGCCTGCCCTGCCTCAATCAGAATTTCAAATTACTATTTAGAAGAACATTCCATTCAATTGTTGTTTGTTGATTGCTTTCTCTCTTTTTTTTTCCGTTTTTACCTTAGTTGGCTATTTTATTCCTTTTCGTAAAGATAACGTTTGAATTGTCTAACAACTATCTTTTTTCACTAAAATACATGCATCTTTGGAAACTGCAAATTTTGTGAGCTCAAAAAGACAATCACTGTGCTTCTTATCATCTAATTTGAGTCTAGGCTTTGTTTCCCCCTAACTTATCCTGGCATTTTTACTTTGAATAGAAATAGTCACAGGCAAAATATATTCATGAAATGTACAGTGCTTACTATTATATGATCTCTGTTTAGAATAACTATTTTATTAAAACAGTCTAAAAGACACTGTCCATCATTCTTGACATTTGATATGTCTAATTTTGTGCTAGTGAACCAAGTTTACCTGCTCACACGTTTGTACAACTACACAATGTGTTTTCCTTTACGTGCAGCTCCGGTACTGAGCAAAAGGTTCGTTGTTTAGGAGTGAAATTTTCTGTGAAAGTTTTGGGAGAGTAATTATTTTCAGGGATCAGACCTATGTGTTGTTAGGAGCAAGAGGCCATCTTGTGTTTACATGCAGTGGTCTGTGTATTTGTGTCTGTACGTACAGTGGTAAAACTGAAACAACTTATTAATAATGTGTGTCACTCTACCCATCACCCCAAATTTAGCTGAAACAAGTAGAAAGGAGCGCAGTTTTCTAGCGATAGCGTATTAGCACTAAGCCTCTGGTTAGGATAAAAAGGAGCAAGGGAGAGGGAGAAAGAGAGGACAGAGGGAGAGAGAGAAAGTGGCAATCTGTACATTTCCTGACAAAGTGGGATCATGTTCTTTCCAAGAAAAGGAAAAGAAATCCAGCTTCACTACCTGATCAGGAGTCCCTCTGGGGTCCACACAAGCCTGCCTCCTTTGGAGAGCCCTTGAGCATCACTGTTGTGACCGGGGTGCACACCTGGGCGACTCCTTGATCATTCGTGCATTCTGGTCAAGTTGACCCGATAAGCCAAAAGTACTTTTCAAGATTTAGATGGCAAACAGCCATCCCCACCCTTGTCTAGGAAGTCGTATTCGCAGGTCACAGGAAGGCGTCAGGTCAGGCTTGAAGCAGCCGGGGTGTGGGCAGGGTCCTCTCTCTGTGAAGCCTGTGTGGGAGGTGAAACTGTCAGGGGTCCTGGGAGATGGCCCAGGCAGGAAGGGAAGGAGAGAGGCGCGGACTGCTCTCTGTTCCCATGGAATCCTTCCTGCCTGTGAAGCCATTGTCCTCCAGATGGGAGGTAGGCCGGGAGATTCCAGAATCCGAAAACATTTTGGAATCATCTTAGAGCACCGGTGTGGATGCGCTTGGCCCCGAGGGGGCCGCGCCCTGCCCCAGTGCGTGCGCCTCCTGCCCCAGCAGGGACCCGCCCTCACCAAGTGGCCTCCAGTAGCCCCTGTGTCCCTGTCGTCCCGCGAGGGATTGGAGGCCCTGGCTCCGGGCGGTCCCGAGGTCCCGCCGCCCTCCTCCCCTGCGCAGAGGACGTGGCTCCCCGCTATCCGTGCGGCTCGTGGTGTCCTAGTGAAATGAGGGCGCACTGGCGCCCGACGTGCCTTGGCGACACGGGCGGCGCCGCGCCCCGCTTCGTGCGTCCCGTCCCCGCCGTGCCCTCAGCTGGGCCTCGTGGCTGGGCCGCCCTCTGTATTTGTATTTGGATTCCTACGTTTGTACTTCTAATACAAATAAATGCACATGTTGTCAGAAA)$ . 11BR030 ENSG00000196235.14 ENSG00000154310.17 +/+ -/+ chr19:39473521 chr3:171270391 CDS/splice-site intron translocation/5'-5' 24 19 2 186 58 high out-of-frame . Early_transcription_elongation_factor_of_RNA_pol_II__NGN_section(100%),KOW_motif(100%),Spt5_transcription_elongation_factor__acidic_N-terminal(100%)| . . ENSG00000196235.14 ENSG00000154310.17 ENST00000599117.5 . downstream upstream duplicates(2),mismatches(1) ^(AAGCCTTTTCTTCCCTCTAGGCCAGAGGACCCCACCTGGAGCCCTAGTAGCCAAGGGGAAGAGTTAAGAAGGAGGAAAGTAAG___ATGTCGGCCCCGCACTCCGCCCAGGCCAGCCCTGCCTCTCTCAAGATGGCGACCTGGAAGTGCGTCGCCCGTGCCAGCCCCGGAAATCTCGTGTTAGGCGAGGTCAACGGGTAGGTTCTCGCGAGAGGACCCGTCAGCCCCAGTCAGGCGTCGTGCGAACAGCAGCTGGTACCGAAGGCGGAGGTGGAGCCCGAGAG___GGAACCAGCGGGGAAACTGAGGCTCGGGGTGGAGCGCAGGATTGTGGGACGCGCCAAGGCTGCTGTCTTTCCCAGCAGCAGCGGAAGATGTCGGACAGCGAGGACAGCAACTTTTCCGAGGAGGAGGACAGCGAGCGCAGCAGTGACGGCGAGGAGGCCGAG___GTAGACGAAGAGCGGCGGAGTGCAGCGGGCAGTGAGAAAGAAGAAGAGCCTGAGGACGAAGAGGAGGAGGAAGAGGAGGAGGAATACGATGAGGAAGAGGAGGAAGAAGATGATGACCGACCCCCCAAGAAACCCCGCCATGGAGGCTTCATTCTGGACGAGGCTG___ATGTTGACGATGAGTATGAGGACGAGGACCAGTGGGAGGATGGAGCAGAGGACATTCTAGAGAAAG___AAGAGATTGAAG___CCTCCAATATCGATAATGTTGTCCTGGATGAAGATCGTTCTGGGGCTCGCCGCCTGCAAAACCTCTGGAG___GGACCAGCGAGAAGAAGAACTGGGCGAGTATTACATGAAGAAATACGCCAAGTCATCTGTGGGAGAGAC___GGTGTATGGAGGATCTGATGAGCTCTCAGACGACATCACCCAGCAGCAGCTGCTCCCAGGAGTCAA___GGATCCCAATCTGTGGACTGTCAAATGTAAG___ATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACG___CCCCTGCAGATCAAGTCAGTAGTGGCACCAGAGCATGTGAAGGGCTACATCTACGTGGAGGCCTACAAGCAGACCCACGTGAAGCAGGCCATTGAGGGGGTGGGCAACCTGCGGCTTGGCTACTGGAACCAGCAGATGGTGCCCATCAAGGAGATGACAGACGTGCTCAAAGTGGTGAAGGAGGTGGCCAACCTGAAACCAAAGTCCTGGGTCCGCCTCAAGCGGGGCATCTACAAGGATGACATTGCTCAG___GTGGACTACGTGGAGCCCAGCCAGAACACCATCTCCCTGAAGATGATCCCACGCATCGACTACGATCGCATCAAGGCCCGCATGAGCTTG___AAAGACTGGTTTGCCAAAAGGAAGAAGTTTAAGCGGCCTCCACAGAGGCTGTTTGATGCTGAGAAGATCAG___GTCCCTGGGGGGTGATGTTGCCTCTGATGGTGACTTCCTCATCTTTGAGGGGAACCGTTACAGCCGGAAGGGCTTTCTGTTCAAGAGCTTCGCCATGTCTGCTGTG___ATCACGGAGGGTGTGAAGCCAACACTCTCTGAGCTGGAAAAGTTTGAGGACCAGCCAGAGGGCATTGACCTGGAGGTGGTGACTGAGAGCACAG___GGAAGGAGCGGGAGCACAACTTCCAACCTGGGGACAACGTGGAGGTCTGTGAGGGTGAGCTCATCAACCTGCAGGGCAAGATCCTCAGCGTGGATGGCAACAAGATCACCATCATGCCCAAGCATGAGGACCTCAAG___GACATGTTGGAGTTCCCAGCCCAGGAACTTAGAAAATACTTCAAGATGGGGGACCACGTGAAGGTGATTGCTGGCCGATTCGAGGGCGACACAGGCCTCATTGTGCGGGTGGAGGAGAATTTCGTTATCCTGTTCTCTGACCTCACCATGCATGAG___CTGAAGGTGCTCCCCCGGGACCTGCAGCTCTGCTCAGAGACAGCATCAGGTGTGGATGTTGGGGGCCAGCATGAATGGGGCGAGCTGGTGCAGCTGGATCCCCAGACTGTGGGTGTCATCGTGCGACTAGAACGGGAGACCTTCCAG___GTGCTGAACATGTACGGGAAGGTGGTGACTGTCAGACATCAGGCTGTGACCCGGAAGAAGGACAACCGCTTTGCTGTGGCCTTGGACTCAGAGCAGAACAACATCCATGTGAAAGACATCGTTAAGGTCATTGATGGCCCCCACTCA___GGCCGAGAAGGGGAGATTCGCCATCTCTTCCGAAGCTTCGCCTTCCTACATTGCAAGAAACTGGTGGAGAACGGGGGCATGTTTGTCTGCAAGACCCGCCACCTGGTGCTGGCTGGGGGCTCAAAG___CCCCGTGATGTGACCAACTTCACCGTGGGTGGCTTTGCGCCTATGAGTCCCCGGATCAGCAGCCCCATGCACCCCAGTGCTGGAG___GTCAGCGTGGCGGCTTTGGTAGCCCAGGTGGCGGCAGTGGTGGCATGAGCAGGGGCCGGGGCCGGAGGGACAACGAACTCATCGGCCAGACCGTGCGCATCTCCCAGGGGCCCTACAAAG___GCTACATCGGTGTGGTGAAAGATGCCACAGAGTCCACGGCCCGTGTGGAGCTGCACTCCACCTGCCAGACCATCTCT)GTGGACCGTCAGCGGCTCACCACGGT___GGGCTCACGGCGCCCGGGCGGCATGACCTCGACCTATGGGAGGACGCCCATGTATGGCTCCCAGACGCCCATGTATGGCTCTGGCTCCCGAACACCCATGTACGGCTCACAGACACCCCTCCAGGATG___GTAGCCGCACCCCACACTACGGCTCACAGACGCCCCTGCATGATGGCAGCCGCACTCCTGCCCAGAGTGGGGCCTGGGACCCCAACAACCCCAACACGCCGTCACG|AGATGGAATGTATGTGGAGCACCACTATAGAGCGACTGTTAACATGGAGAGGAAAGAGGCCAGAGAGAAAATGCCTGGTGACTTCTCCAAAAATACCCACATCGTTAGTGAGGCATTCCCACCTAAATATCACACCAGCAATTGAAATCAGACCCAAAGTAAAATTCGTCTCTAATCGCCAACTATCTTTCTCAAATTCTCCTTATGCCTTTACATGTGTTAATTTCATTTCCTGAAATACCCATCCCCATCTTTTCTCACTCCTCTCTCACCCCTGCCTACTGCCCCAGCTGTTTCCTGACAGGTATAGTTGTTAGCCACAAAAAATAGGGGTTGAATCCTACCTCTATACCACTGTCTAGTTGGATGATTTTGGGAAAGTTACTTCACAC MSDSEDSNFSEEEDSERSSDGEEAEVDEERRSAAGSEKEEEPEDEEEEEEEEEYDEEEEEEDDDRPPKKPRHGGFILDEADVDDEYEDEDQWEDGAEDILEKEEIEASNIDNVVLDEDRSGARRLQNLWRDQREEELGEYYMKKYAKSSVGETVYGGSDELSDDITQQQLLPGVKDPNLWTVKCKIGEERATAISLMRKFIAYQFTDTPLQIKSVVAPEHVKGYIYVEAYKQTHVKQAIEGVGNLRLGYWNQQMVPIKEMTDVLKVVKEVANLKPKSWVRLKRGIYKDDIAQVDYVEPSQNTISLKMIPRIDYDRIKARMSLKDWFAKRKKFKRPPQRLFDAEKIRSLGGDVASDGDFLIFEGNRYSRKGFLFKSFAMSAVITEGVKPTLSELEKFEDQPEGIDLEVVTESTGKEREHNFQPGDNVEVCEGELINLQGKILSVDGNKITIMPKHEDLKDMLEFPAQELRKYFKMGDHVKVIAGRFEGDTGLIVRVEENFVILFSDLTMHELKVLPRDLQLCSETASGVDVGGQHEWGELVQLDPQTVGVIVRLERETFQVLNMYGKVVTVRHQAVTRKKDNRFAVALDSEQNNIHVKDIVKVIDGPHSGREGEIRHLFRSFAFLHCKKLVENGGMFVCKTRHLVLAGGSKPRDVTNFTVGGFAPMSPRISSPMHPSAGGQRGGFGSPGGGSGGMSRGRGRRDNELIGQTVRISQGPYKGYIGVVKDATESTARVELHSTCQTISVDRQRLTTVGSRRPGGMTSTYGRTPMYGSQTPMYGSGSRTPMYGSQTPLQDGSRTPHYGSQTPLHDGSRTPAQSGAWDPNNPNTPSr|dgmyvehhyratvnmerkearekmpgdfsknthivseafppkyhtsn* 11BR030 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 12 0 31 24 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(2),low_entropy(1),mismappers(1) TCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAG(GACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR030 ENSG00000196535.16 ENSG00000266202.1 -/- -/- chr17:29180313 chr17:27804341 5'UTR/splice-site CDS/splice-site deletion 5 14 0 15 90 high . . . . . ENSG00000196535.16 ENSG00000266202.1 ENST00000527372.6 ENST00000582441.1 upstream downstream duplicates(1) ^AGCTGCGCCGCGCTGCGCTCTGCTCCATCCCTGACCGGGCCGAGGCTGCTGGATGCCGCGTCTCCGCTTCTGCTGCCTGCCGGGCGGGCTCCGGTGGCCG|AATTCACCTGCTGCATCCATCATCAGAAGAGGCCAGGAATGtGGCCTGCTGGGTGGGCAGGGCCAAGAAGAAGGCAGCCGTGCAGGCCCAGGAAGCCGTAGGAGACTTGCCAACCTCCAGGAGGGGGCCAGCCCTGGACCCTGCAGACAGGCGCTCTGGGGAGGGTACCAGAAGCTCACTGTTTGTCCCGGCTTGAAGGCTGTTTGCTGTGTGACCTTG___CCCCACAGTGAAGAACATCTGAGCTCAAATCCAGATAAGTGACATAAGTGAC(CTGCTTTGTAAAGCCATAGAGATGG)$ . 11BR030 ENSG00000186838.13 ENSG00000239227.1(69668),ENSG00000220343.5(134053) +/+ ./+ chr19:39516021 chr3:166931778 CDS/splice-site intergenic translocation 3 10 0 19 25 high out-of-frame . . . . ENSG00000186838.13 . ENST00000335426.8 . downstream upstream mismatches(1) ^(CGCCGCGTCTCAGAACCCGGTGCGGGAGACGCTCTCCCCGCCCAAAGAGGGAAGGCGGGCGGGACTCCCCAACCGGCTTGCCCCGGTCCCCCTGGGCCCCATGAATAACCAGGCGCGGACCCCAGCCCCCTCCTCGGCGCGGACTTCAACCTCAGTCCGGGCTTCTACCCCGACCCGGACACCGACTCCACTCCGGACCCCGACTCCGGTCCGGACTCGGACCCCCATCCGGACCCTGACTCCAGTCCTGACTCCGTCTCCAGCCGGGACTTCCCCTCTGGTCCTGACTCCTGCTCCAGCCCAGATTCCCACTCTGGTCCCCACTCCCGCTCTGGCCCGGATCCCCCGTCTGGTTCCGCCTCCTGCTCCGGCCTGGATCCCTACTCCGGTGCCGACTCCCGTTCCCGTCCGGAACCCAACTCCGGTCCCGACTCCGGCTCGGACCCTGACTCCTCCAGTCCGGGTCCCAGCCCCAGCCCCAGCCCAGCTCCTGGCAGGGATTCGGGCCGCGCTCCCCGTCTTGGACTCCTACCTGGCCCCGGCCCTACCTTTGGATCCGCCCCCGGAACCTGCTCCGGAGCTGCCTTTGTTGCCCGAGGAGGACCCTGAGCCGGCGCCGAGCCTGAAGCTCATCCCGTCGGTCTCCAGCGAGGCCGGGCCCGCCCCGGGGCC)CCTTCCCACGCGCACCCCGCTGGCCGCGAACTCACCCGGGCCCACCCTGGACTTCACCTTCAGGGCAGACCCGTCGGCCATCGGGCTGGCGGATCCCCCCATTCCCAGTCCTGTCCCCTCGCCCATCCTGGGGACCATCCCGTCGGCCATCTCCTTACAGAATTGTACGGAAACCTTCCCCTCCTCCAGCGAGAACTTCGCGCTGGACAAGAGGGTCCTGATTCGAGTGACCTACTG|GTGTGGATGAAACGAGGCTTCACCCCTGAGTCTGCAACCTTAGACAAGTTTCTCCACAATGCTACTCTGAGATCAAGATCTCAACTGTACATCCTGGAGACAACACAACAACACAAG MNNQARTPAPSSARTSTSVRASTPTRTPTPLRTPTPVRTRTPIRTLTPVLTPSPAGTSPLVLTPAPAQIPTLVPTPALARIPRLVPPPAPAWIPTPVPTPVPVRNPTPVPTPARTLTPPVRVPAPAPAQLLAGIRAALPVLDSYLAPALPLDPPPEPAPELPLLPEEDPEPAPSLKLIPSVSSEAGPAPGPLPTRTPLAANSPGPTLDFTFRADPSAIGLADPPIPSPVPSPILGTIPSAISLQNCTETFPSSSENFALDKRVLIRVTYw|cg* 11BR030 ENSG00000273559.5 ENSG00000228340.6(96515),ENSG00000276627.3(4702) -/- ./- chr17:38806297 chr20:60750299 CDS/splice-site intergenic translocation 12 0 1 687 28 high out-of-frame . N-terminal_domain_of_CBF1_interacting_co-repressor_CIR(100%),Pre-mRNA_splicing_factor(100%)| . . ENSG00000273559.5 . ENST00000614790.5 . upstream downstream . ^(AGAGCGGTGGTGAAACTGGCAGTTGACGGCTCCTGGGACTAGATCCCGCGAGGTAGCCCCCGAACTATTTCTCTACGTTTTCTCTTGATCCTCCCGAAATCTTCCAGATCCGCGTAGTGAGGAATCGTCTCCACCGTCATGGGGGGCGGAGACCTG___AATCTGAAGAAGAGCTGGCACCCGCAGACCCTCAGGAATGTGGAGAAAGTGTGGAAGGCCGAGCAGAAGCATGAGGCTGAGCGGAAGAAGATTGAGGAGCTTCAGCGGGAGCTGCGAGAAGAGAGAGCCCGGGAAGAGATGCAGCGCTATGCGGAGGATGTTGGGGCCGTCAA___GAAAAAAGAAGAAAAGTTGGACTGGATGTACCAGGGTCCTGGTGGGATGGTGAACCGTGACGAGTACCTGCTGGGGCGCCCCATTGACAAATATGTTTTTGAGAAGATGGAGGAGAAGGAGGCAGGCTGCTCTTCTGAAACAGGACTTCTCCCAGGCTCTATCTTTGCCCCATCAGGTGCCAATTCCCTTCTTGACATGGCCAGCAAGATCCGGGAGGACCCACTCTTCATCATCAG___GAAGAAGGAGGAGGAGAAAAAACGAGAGGTATTAAATAATCCAGTGAAAATGAAGAAAATCAAAGAATTG___TTGCAAATGAGTCTGGAAAAAAAGGAGAAGAAGAAAAAGAAGGAGAAGAAAAAGAAGCACAAGAAACATAAGCACAGAAGCTCGAGTAGTGATCGTTCCAGCAGCGAGGATGAGCACAGTGCAGGGAG___ATCACAGAAGAAGATGGCAAATTCCTCCCCTGTTTTGTCCAAAGTCCCTGGATATGGCTTACAG___GTCCGGAACTCTGACCGTAACCAGGGTCTTCAGGGTCCTCTGACAGCAGAGCAAAAGAGAGGGCATGGGATGAAGAACCATTCCAGATCCAGAAGCTCCTCCCACTCACC)CCCAAGACATGCCAGCAAGAAGAGCACCAGGGAAGCAGGGTCCCGGGACAGGAGGTCTCGATCCCTGGGCAGAAGGTCACGGTCCCCAAGACCCAGCAAACT___GCACAACTCTAAGGTGAACAGGAGAGAGACAGGCCAAACTAGGAGCCCATCACCTAAAAAAGAGGTCTACCAAAGGCGACATGCTCCCGGATACACCAG|GCCAGAGGCTGCCATGTTGGCTCAGCCGTCACCAGTTACGTGGAAAGAGAGCATAGAGAAAGGAGGAGAAGGAGACAGGAGATGAACACTGAAGCAGAGGAACAGAAACACCTATGGAGGCATCCAGAGAAATGGTGGTAGGTGTGCACCCCCTGACACACTCAAACCACAAAAGGACAGAGATAAGCACTCAGACTCACAGCAAGGGATGGAGAGATGAAGAGACAGG MGGGDLNLKKSWHPQTLRNVEKVWKAEQKHEAERKKIEELQRELREERAREEMQRYAEDVGAVKKKEEKLDWMYQGPGGMVNRDEYLLGRPIDKYVFEKMEEKEAGCSSETGLLPGSIFAPSGANSLLDMASKIREDPLFIIRKKEEEKKREVLNNPVKMKKIKELLQMSLEKKEKKKKKEKKKKHKKHKHRSSSSDRSSSEDEHSAGRSQKKMANSSPVLSKVPGYGLQVRNSDRNQGLQGPLTAEQKRGHGMKNHSRSRSSSHSPPRHASKKSTREAGSRDRRSRSLGRRSRSPRPSKLHNSKVNRRETGQTRSPSPKKEVYQRRHAPGYTr|peaamlaqpspvtwkesiekggegdrr* 11BR030 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 6 7 0 115 39 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(2),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAG)CTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR030 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 6 5 0 19 22 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream mismappers(2) GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCC(TCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11BR030 ENSG00000171109.19 ENSG00000279936.1(3709),ENSG00000196437.12(3600) +/+ ./+ chr3:179378814 chr19:37407555 CDS/splice-site intergenic translocation 8 2 0 398 100 high out-of-frame . Dynamin_family(100%)| . . ENSG00000171109.19 . ENST00000471841.6 . downstream upstream duplicates(1) ^(ACTCCCCCTGCCTCCTCTCCGCCTTTAACTTCTCGGGAAGATGAGGCAGTTTGGCATCTGTGGCCGAGTTGCTGTTGCCGGGTGATAGTTGGAGCGGAGACT___TAGCATAATGGCAGAACCTGTTTCTCCACTGAAGCACTTTGTGCTGGCTAAGAAGGCGATTACTGCAATCTTTGACCAGTTACTGGAGTTTGTTACTGAAGGATCACATTTTGTTGAAG___CAACATATAAGAATCCGGAACTTGATCGAATAGCCACTGAAGATGATCTGGTAGAAATGCAAGGATATAAAGACAAGCTTTCCATCATTGGTGAGGTGCTATCTCGGAGACACATGAAGGTGGCATTTTTTGGCAG___GACAAGCAGTGGGAAGAGCTCTGTTATCAATGCAATGTTGTGGGATAAAGTTCTCCCTAGTGGGATTGGCCATATAACCAATTGCTTCCTAAGTGTTGAAGGAACTGATGGAGATAAAGCCTATCTTATGACAGAAGGATCAGATGAAAAAAAGAGTGTGAAG___ACAGTTAATCAACTGGCCCATGCCCTTCACATGGACAAAGATTTGAAAGCTGGCTGTCTTGTACGTGTGTTTTGGCCAAAAGCAAAATGTGCCCTCTTGAGAGATGACCTGGTGTTAGTAGACAG___TCCAGGCACAGATGTCACTACAGAGCTGGATAGCTGGATTGATAAGTTTTGCCTAGATGCTGATGTCTTTGTTTTGGTCGCAAACTCTGAATCAACACTAATGAATACG___GAAAAACACTTTTTTCACAAGGTGAATGAGCGGCTTTCCAAGCCTAATATTTTCATTCTCAATAATCGTTGGGATGCCTCTGCATCAGAGCCAGAATATATGGAAGAC___GTACGCAGACAGCACATGGAAAGATGCCTGCATTTCTTGGTGGAGGAGCTCAAAGTTGTAAATGCTTTAGAAGCACAGAATCGTATCTTCTTTGTTTCAGCAAAGGAAGTTCTTAGTGCTAGAAAGCAAAAAGCACAGGGGATGCCAGAAAGTG___GTGTGGCACTTGCTGAAGGATTTCATGCAAGATTACAGGAATTTCAGAATTTTGAACAAATCTTTGAG___GAGTGTATCTCGCAGTCAGCAGTGAAAACAAAGTTCGAACAGCACACTATCAGAGCTAAACAGATACTAGCTACTGTGAAAAACATAATGGATTCAGTAAACCTGGCAGCTGAAGATAAAAG___GCATTATTCAGTGGAAGAGAGGGAAGACCAAATTGATAGACTGGACTTTATTCGAAACCAGATGAACCTTTTAACACTGGATGTTAAGAAAAAAATCAAGGAGGTTACCGAGGAGGTGGCAAACAAA___GTTTCATGTGCAATGACAGATGAAATTTGTCGACTGTCTGTTTTGGTTGATGAATTTTGTTCAGAGTTTCATCCTAATCCAGATGTATTAAAAATATATAAAAGT___GAATTAAATAAGCACATAGAGGATGGTATGGGAAGAAATTTGGCTGATCGATGCACCGATGAAGTAAACGCCTTAGTGCTTCAGACCCAGCAAGAAATTATTG___AAAATTTGAAGCCATTACTTCCAGCTGGTA)TACAGGATAAACTACATACACTGATCCCTTGCAAGAAATTTGATCTCAGTTATAATCTAAATTACCACAAGTTATGTTCAGATTTTCAAGAGGATATTGTATTTCGTTTTTCCCTGGGCTGGTCTTCCCTTGTACATCGATTTTTGGGCCCTAGAAATGCTCAAAGGGTGCTCCTAGGATTATCAGAGCCTATCTTTCAG|ATTAGACCTAAAATGGATTCCCACTTCACCCCCTACTGCTGCTTTGATTCCTGTTTCCCTGCACATACAGTGGGCCACACCTGCAAAAATCACAAGGCTGACTTCAGGAATCAGTTTTGAT MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPELDRIATEDDLVEMQGYKDKLSIIGEVLSRRHMKVAFFGRTSSGKSSVINAMLWDKVLPSGIGHITNCFLSVEGTDGDKAYLMTEGSDEKKSVKTVNQLAHALHMDKDLKAGCLVRVFWPKAKCALLRDDLVLVDSPGTDVTTELDSWIDKFCLDADVFVLVANSESTLMNTEKHFFHKVNERLSKPNIFILNNRWDASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEAQNRIFFVSAKEVLSARKQKAQGMPESGVALAEGFHARLQEFQNFEQIFEECISQSAVKTKFEQHTIRAKQILATVKNIMDSVNLAAEDKRHYSVEEREDQIDRLDFIRNQMNLLTLDVKKKIKEVTEEVANKVSCAMTDEICRLSVLVDEFCSEFHPNPDVLKIYKSELNKHIEDGMGRNLADRCTDEVNALVLQTQQEIIENLKPLLPAGIQDKLHTLIPCKKFDLSYNLNYHKLCSDFQEDIVFRFSLGWSSLVHRFLGPRNAQRVLLGLSEPIFQ|irpkmdshftpyccfdscfpahtvghtcknhkadfrnqf* 11BR030 ENSG00000273559.5 ENSG00000276627.3(8307),ENSG00000261035.1(36418) -/- ./- chr17:38806297 chr20:60775586 CDS/splice-site intergenic translocation 8 0 1 687 16 high out-of-frame . N-terminal_domain_of_CBF1_interacting_co-repressor_CIR(100%),Pre-mRNA_splicing_factor(100%)| . . ENSG00000273559.5 . ENST00000614790.5 . upstream downstream . ^(AGAGCGGTGGTGAAACTGGCAGTTGACGGCTCCTGGGACTAGATCCCGCGAGGTAGCCCCCGAACTATTTCTCTACGTTTTCTCTTGATCCTCCCGAAATCTTCCAGATCCGCGTAGTGAGGAATCGTCTCCACCGTCATGGGGGGCGGAGACCTG___AATCTGAAGAAGAGCTGGCACCCGCAGACCCTCAGGAATGTGGAGAAAGTGTGGAAGGCCGAGCAGAAGCATGAGGCTGAGCGGAAGAAGATTGAGGAGCTTCAGCGGGAGCTGCGAGAAGAGAGAGCCCGGGAAGAGATGCAGCGCTATGCGGAGGATGTTGGGGCCGTCAA___GAAAAAAGAAGAAAAGTTGGACTGGATGTACCAGGGTCCTGGTGGGATGGTGAACCGTGACGAGTACCTGCTGGGGCGCCCCATTGACAAATATGTTTTTGAGAAGATGGAGGAGAAGGAGGCAGGCTGCTCTTCTGAAACAGGACTTCTCCCAGGCTCTATCTTTGCCCCATCAGGTGCCAATTCCCTTCTTGACATGGCCAGCAAGATCCGGGAGGACCCACTCTTCATCATCAG___GAAGAAGGAGGAGGAGAAAAAACGAGAGGTATTAAATAATCCAGTGAAAATGAAGAAAATCAAAGAATTG___TTGCAAATGAGTCTGGAAAAAAAGGAGAAGAAGAAAAAGAAGGAGAAGAAAAAGAAGCACAAGAAACATAAGCACAGAAGCTCGAGTAGTGATCGTTCCAGCAGCGAGGATGAGCACAGTGCAGGGAG___ATCACAGAAGAAGATGGCAAATTCCTCCCCTGTTTTGTCCAAAGTCCCTGGATATGGCTTACAG___GTCCGGAACTCTGACCGTAACCAGGGTCTTCAGGGTCCTCTGACAGCAGAGCAAAAGAGAGG)GCATGGGATGAAGAACCATTCCAGATCCAGAAGCTCCTCCCACTCACCCCCAAGACATGCCAGCAAGAAGAGCACCAGGGAAGCAGGGTCCCGGGACAGGAGGTCTCGATCCCTGGGCAGAAGGTCACGGTCCCCAAGACCCAGCAAACT___GCACAACTCTAAGGTGAACAGGAGAGAGACAGGCCAAACTAGGAGCCCATCACCTAAAAAAGAGGTCTACCAAAGGCGACATGCTCCCGGATACACCAG|GAAGCTTCCGAGTGGTGAAAAGGAAAGTGAACATCAAAGCTCGGAAGACAAGAGGGTGGAGTGATGGCAACCAAGAGCAAGACCCTTCCCTCTCCTGTGATGGGGTGGCTCTATGTGAAGCCCCCAAACTGGACACAGGTCTGGCAGAATGAGGAACCCACTGAGATTTAGCGCCAACATCCAGCATAAAAGGGAG MGGGDLNLKKSWHPQTLRNVEKVWKAEQKHEAERKKIEELQRELREERAREEMQRYAEDVGAVKKKEEKLDWMYQGPGGMVNRDEYLLGRPIDKYVFEKMEEKEAGCSSETGLLPGSIFAPSGANSLLDMASKIREDPLFIIRKKEEEKKREVLNNPVKMKKIKELLQMSLEKKEKKKKKEKKKKHKKHKHRSSSSDRSSSEDEHSAGRSQKKMANSSPVLSKVPGYGLQVRNSDRNQGLQGPLTAEQKRGHGMKNHSRSRSSSHSPPRHASKKSTREAGSRDRRSRSLGRRSRSPRPSKLHNSKVNRRETGQTRSPSPKKEVYQRRHAPGYTr|klpsgekesehqssedkrve* 11BR030 ENSG00000134644.15 ENSG00000158022.6(43031),ENSG00000175087.10(501) -/- ./+ chr1:30992390 chr1:26110664 CDS/splice-site intergenic inversion 4 1 0 64 5 high out-of-frame . . . . ENSG00000134644.15 . ENST00000373747.7 . upstream upstream . ^(GTTGTCGGAGTGAAAGGTAAGGGGGAGCGAGAGCGCCAGAGAGAGAAGATCGGGGGGCTGAAATCCATCTTCATCCTACCGCTCCGCCC___GTGTTGGTGGAATGAGCGTTGCATGTGTCTTGAAGAGAAAAGCAGTGCTTTGGCAGGACTCTTTCAGCCCCCACCTGAAACATCACCCTCAAGAACCAGCTAATCCCAACATGCCTGTTGTTTTGACATCTGGAACAGGGTCGCAAGCGCAGCCACAACCAGCTGCAAATCAGGCTCTTGCAGCTGGGACTCACTCCAGCCCTGTCCCAGGATCTATAGGAGTTGCAGGCCGTTCCCAGGACGACGCTATGGTGGACTACTTCTTTCAGAGGCAGCATGGTGAGCAGCTTGGGGGAGGAGGAAGTGGAGGAGGCGGCTATAATAATAGCAAACATCGATGGCCTACTGGGGATAACATTCATGCAGAACATCAG___GTGCGTTCCATGGATGAACTGAATCATGATTTTCAAGCACTTGCTCTGGAGGGAAGAGCGATGGGAGAG___CAGCTCTTGCCAGGTAAAAAGTTTTGGGAAACAGATGAATCCAGCAAAGATGGACCAAAAGGAATATTCCTGGGTGATCAATGGCGAGACAGTGCCTGGGGAACATCAG___ATCATTCAGTTTCCCAGCCAATCATGGTGCAGAGAAGACCTGGTCAGAGTTTCCATGTGAACAGTGAGGTCAATTCTGTACTGTCCCCACGATCGGAGAGTGGGGGACTAGGCGTTAGCATGGTGGAGTATGTGTTGAGCTCATCCCCGGGCGATTCCTGTCTAAGAAAAGGAGGATTT___GGCCCAAGGGATGCAGACAGTGATGAAAACGACAAAGGTGAAAAGAAGAACAAGGGTACGTTTGATGGAGATAAGCTAGGAGATTTGAAGGAGGAGGGTGATGTGATGGACAAGACCAATGGTTTACCAGTGCAGAATGGGATTGATGCAGACGTCAAAGATTTTAG___CCGTACCC)CTGGTAATTGCCAGAACTCTGCTAATGAAGTGGATCTTCTGGGTCCAAACCAGAATGGTTCTGAGGGCTTAGCCCAGCTGACCAGCACCAATGGTGCCAAGCCTGTGGAGGATTTCTCCAACATGGAGTCCCAGAGTGTCCCCTTGGACCCCATGGAACATGTGGGCATGGAGCCTCTTCAGTTTGATTATTCAGGCACGCAGGTACCTGTGGACTCAGCAGCAGCAACTGTGGGACTTTTTGACTACAATTCTCAACAACAG|AGCGAGCGCTGGGAGGAGGAATCATCACCCTGCTGAGAAGTAATGGGTGCAGAATAAATCGAGTAAGAAGGAATGGACTTTTCTGGCGGATGCTTACTGATCTAACAACTGGATGACTGAGGAATGCGGTCCTAAGTGACCCCGGGCTGGCTGTGGG MSVACVLKRKAVLWQDSFSPHLKHHPQEPANPNMPVVLTSGTGSQAQPQPAANQALAAGTHSSPVPGSIGVAGRSQDDAMVDYFFQRQHGEQLGGGGSGGGGYNNSKHRWPTGDNIHAEHQVRSMDELNHDFQALALEGRAMGEQLLPGKKFWETDESSKDGPKGIFLGDQWRDSAWGTSDHSVSQPIMVQRRPGQSFHVNSEVNSVLSPRSESGGLGVSMVEYVLSSSPGDSCLRKGGFGPRDADSDENDKGEKKNKGTFDGDKLGDLKEEGDVMDKTNGLPVQNGIDADVKDFSRTPGNCQNSANEVDLLGPNQNGSEGLAQLTSTNGAKPVEDFSNMESQSVPLDPMEHVGMEPLQFDYSGTQVPVDSAAATVGLFDYNSQQQ|serweeesspc* 11BR030 ENSG00000180198.16 ENSG00000225315.2 +/+ +/+ chr1:28516867 chr1:24086750 5'UTR/splice-site exon/splice-site duplication 2 3 0 24 25 high . . . . . ENSG00000180198.16 ENSG00000225315.2 ENST00000649185.1 ENST00000439239.2 downstream upstream . ^(AGACATTCCAGGACTTCCGGGCACTTCGTAAGGTTTAAAAAGGATGCTTCGCGTTTTCTCTCTCCTTTTTGGAGACAGATTCGCAGTGGTCGCTTCTTCTCCTTG___GATTTGTTAAGGATTCCAAGTAACTCTTATTTG___GAGAGAAGACGATCTGCACTTCGCATTTTGGCAT)TGACATTTAATTTTAGGGTCCTTTATATAGAAGGGAGAGTAG___CTACATGAATGTGTAAGATCTTGGAGGAAGACAGCAGAGAGAGAGAGAGAGATCAGAGATCCCAGGGTTAAAAGTTGGAGAAATTTCACAGTACATCATCCAAAAGAGGAGTCCATGATGGAGGCAGAGGTAAACTTGGAGAG|GTCCAGAACGGCGAATCTCGGGGATCTCACAGGGCTTTCCGAGCTGATGG$ . 11BR030 ENSG00000170832.13 ENSG00000287478.1 -/- -/- chr17:60252381 chr20:55631200 CDS/splice-site exon/splice-site translocation 1 3 0 170 5 high out-of-frame . EF_hand(100%)| . . ENSG00000170832.13 ENSG00000287478.1 ENST00000300896.9 ENST00000661549.1 upstream downstream . ^(CGTGATCCGGCATGGAGGCGGTGGCGGCGACCGGGAGGAGCCGCCGGGGCAGAAGCCGCACTTGTTAGTGTGGGGGGAGGTGGGGGCGGGGGACGCCGACACCGTCACCGTCACCCAGGGACGCCGAGGAGAAGGCGGGAGGGGGGTGGGGGCGAGATCAGGCTCCGACCCCCCGCCGAGGGGATGAGGGGAGCATGGGTGCCAAGGAGTCACGGATCGGATTCCTCAGCTACGAGGAGGCGCTGAGGAGAG___TTACAGATGTAGAGCTAAAACGACTGAAGGATGCTTTCAAGAGGACCTGTGGACTCTCATATTACATGGGCCAGCACTGCTTCATCCGGGAAGTGCTTGGGGATGGAGTGCCTCCAAAGGTTGCTGAG___GTGATTTACTGTTCTTTTGGTGGAACATCCAAAGGGCTGCACTTCAATAATTTAATAGTTGGACTTGTCCTCCTTACAAGAGGCAAAGATGAAGAGAAAGCAAAAT___ACATTTTTAGTCTTTTTTCAAGTGAATCTGGGAACTATGTTATACGGGAAGAAATGGAAAGAATGCTCCACGTGGTGGATGGTAAAGTCCCAGATACACTCAGGAAGTGTTTCTCAGAG___GGTGAAAAGGTAAACTATGAAAAGTTTAGAAATTGGCTTTTTCTAAACAAAGATGCTTTTACTTTCTCTCGATGGCTTCTATCTGGAGGTGTGTATGTTACCCTCACTGATGATAGTGATACTCCTACTTTCTACCAAACTCTGGCTGGAGTCACACATT___TGGAGGAATCAGACATCATTGATCTTGAGAAACGCTATTGGTTATTGAAGGCTCAATCCCGGACTGGACGATTTGATTTAGAGACATTTGGCCCATTGGTTTCACCACCTATTCGTCCATCTCTAAGTGAAG___GTTTGTTTAATGCTTTTGATGAAAATCGTGACAATCACATAGATTTTAAGGAGATATCCTGTGGGTTATCAGCCTGTTGCAGGGGACCCCTGGCTGAAAGACAAAAAT___TTTGCTTCAAGGTATTTGATGTTGACCGTGATGGAGTTCTCTCCAGGGTTGAACTGAGAGACATGGTGGTTGCACTTTTAGAAGTCTGGAAGGACAACCGCACTGATGATATTCCT___GAATTACATATGGATCTCTCTGATATTGTAGAAGGCATACTGAATGCACATGACACCACAAAG___)ATGGGTCATCTTACTCTGGAAGACTATCAGATCTGGAGTGTGAAAAATGTTCTTGCCAATGAGTTTTTGAACCTCCTTTTCCAG___GTGTGTCACATAGTTCTGGGGTTAAGACCAGCTACTCCGGAAGAAGAAGGACAAATTATTAG|CGCTGAAGCTCATGATGTGAGGCAAATCCTCTCCGACTGCAATTCCTCCCTAACTACATTCCCCTGGACGCTTTCCTTTACCTGGCACACCACTGAAAAAAAGAAGAGGAACCCATGTTTCAAACCAACGGATTGTTTAGCAG___CCACATCTGTACAAGCTCAAAAAAAAAAGAAAAGAAAAAGCCTGGGTGCTTTCTCCTTTGGCACCAGCGAGACATCCAAACCATGGAAACCTCTGCCCATATGGAATGCTCACCCTGGTCC(CACGGTGAATCATAATAGAGACCCAAGCCAGTCACCTTTCCTGGCCCTCACAAACCATTTCTGACCTGCTTGAGAGGTCTGCCCGGTTCTCCCAGAGACCTCAATTAT___CCTTTCAGAGCTGGATGCATAAGTCAAGCAGCATCAATGCCAATGACCTGTGAGGAAACATTTAAGAAGGAGACACTACCTCTCTTTTCTGAAGAATCAAATCAGTGACTCATTCTAATTCTCTTGGGTGTGTGGAAGGAGGATGAGAGCTTTGAACCTACAGCTACTGTTTAGTAACTACGAGGCGATGTCCTGAGATTTCCTACTAGGTCTCTGTCTGAGGATGTAGTCAGTATTTGAAAAAAGAACAGAGGGATAAGGAGAAAAATCATCTGTAGCATGACTCAAGTTGCTGGATCTAGCCTCACCTGAAGAGATACATCTTGGACTTTTCTGTTACATGACCTGACATCTTCTCTTTAAATATTTTTTGTAGACACAATTCTTCATGTGGACTTATGTATTAAATTTTAGCTGAATCCATGAAATAAATTTTTATAAATGGCTCAAA)$ MGAKESRIGFLSYEEALRRVTDVELKRLKDAFKRTCGLSYYMGQHCFIREVLGDGVPPKVAEVIYCSFGGTSKGLHFNNLIVGLVLLTRGKDEEKAKYIFSLFSSESGNYVIREEMERMLHVVDGKVPDTLRKCFSEGEKVNYEKFRNWLFLNKDAFTFSRWLLSGGVYVTLTDDSDTPTFYQTLAGVTHLEESDIIDLEKRYWLLKAQSRTGRFDLETFGPLVSPPIRPSLSEGLFNAFDENRDNHIDFKEISCGLSACCRGPLAERQKFCFKVFDVDRDGVLSRVELRDMVVALLEVWKDNRTDDIPELHMDLSDIVEGILNAHDTTKMGHLTLEDYQIWSVKNVLANEFLNLLFQVCHIVLGLRPATPEEEGQIIs|aeahdvrqilsdcnsslttfpwtlsftwhttekkkrnpcfkptdclaatsvqaqkkkkrkslgafsfgtsetskpwkplpiwnahpgptvnhnrdpsqspflaltnhf* 11BR030 ENSG00000171109.19 ENSG00000196437.12 +/+ -/+ chr3:179378814 chr19:37428698 CDS/splice-site intron translocation/5'-5' 1 2 1 398 22 high out-of-frame . Dynamin_family(100%)| . . ENSG00000171109.19 ENSG00000196437.12 ENST00000471841.6 . downstream upstream mismappers(1) ^(ACTCCCCCTGCCTCCTCTCCGCCTTTAACTTCTCGGGAAGATGAGGCAGTTTGGCATCTGTGGCCGAGTTGCTGTTGCCGGGTGATAGTTGGAGCGGAGACT___TAGCATAATGGCAGAACCTGTTTCTCCACTGAAGCACTTTGTGCTGGCTAAGAAGGCGATTACTGCAATCTTTGACCAGTTACTGGAGTTTGTTACTGAAGGATCACATTTTGTTGAAG___CAACATATAAGAATCCGGAACTTGATCGAATAGCCACTGAAGATGATCTGGTAGAAATGCAAGGATATAAAGACAAGCTTTCCATCATTGGTGAGGTGCTATCTCGGAGACACATGAAGGTGGCATTTTTTGGCAG___GACAAGCAGTGGGAAGAGCTCTGTTATCAATGCAATGTTGTGGGATAAAGTTCTCCCTAGTGGGATTGGCCATATAACCAATTGCTTCCTAAGTGTTGAAGGAACTGATGGAGATAAAGCCTATCTTATGACAGAAGGATCAGATGAAAAAAAGAGTGTGAAG___ACAGTTAATCAACTGGCCCATGCCCTTCACATGGACAAAGATTTGAAAGCTGGCTGTCTTGTACGTGTGTTTTGGCCAAAAGCAAAATGTGCCCTCTTGAGAGATGACCTGGTGTTAGTAGACAG___TCCAGGCACAGATGTCACTACAGAGCTGGATAGCTGGATTGATAAGTTTTGCCTAGATGCTGATGTCTTTGTTTTGGTCGCAAACTCTGAATCAACACTAATGAATACG___GAAAAACACTTTTTTCACAAGGTGAATGAGCGGCTTTCCAAGCCTAATATTTTCATTCTCAATAATCGTTGGGATGCCTCTGCATCAGAGCCAGAATATATGGAAGAC___GTACGCAGACAGCACATGGAAAGATGCCTGCATTTCTTGGTGGAGGAGCTCAAAGTTGTAAATGCTTTAGAAGCACAGAATCGTATCTTCTTTGTTTCAGCAAAGGAAGTTCTTAGTGCTAGAAAGCAAAAAGCACAGGGGATGCCAGAAAGTG___GTGTGGCACTTGCTGAAGGATTTCATGCAAGATTACAGGAATTTCAGAATTTTGAACAAATCTTTGAG___GAGTGTATCTCGCAGTCAGCAGTGAAAACAAAGTTCGAACAGCACACTATCAGAGCTAAACAGATACTAGCTACTGTGAAAAACATAATGGATTCAGTAAACCTGGCAGCTGAAGATAAAAG___GCATTATTCAGTGGAAGAGAGGGAAGACCAAATTGATAGACTGGACTTTATTCGAAACCAGATGAACCTTTTAACACTGGATGTTAAGAAAAAAATCAAGGAGGTTACCGAGGAGGTGGCAAACAAA___GTTTCATGTGCAATGACAGATGAAATTTGTCGACTGTCTGTTTTGGTTGATGAATTTTGTTCAGAGTTTCATCCTAATCCAGATGTATTAAAAATATATAAAAGT___GAATTAAATAAGCACATAGAGGATGGTATGGGAAGAAATTTGGCTGATCGATGCACCGATGAAGTAAACGCCTTAGTGCTTCAGACCCAGCAAGAAATTATTG___AAAATTTGAAGCCATTACTTCCAGCTGGTATACAGGATAAACTACATACACTGATCCCTTGCAAGAAATTTGATCTCAGTTATAATCTAAATTACCAC)AAGTTATGTTCAGATTTTCAAGAGGATATTGTATTTCGTTTTTCCCTGGGCTGGTCTTCCCTTGTACATCGATTTTTGGGCCCTAGAAATGCTCAAAGGGTGCTCCTAGGATTATCAGAGCCTATCTTTCAG|AGTCTCGCCCTGTTGCCCAGGCTGGAGTGCAGTGTGGCGTGATGTTGGCTCTCTACAACCTCCGTCTCCTGGATTCAAGTGATTCTCCTGCCTCAGTCTCCCAAATAGCT MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPELDRIATEDDLVEMQGYKDKLSIIGEVLSRRHMKVAFFGRTSSGKSSVINAMLWDKVLPSGIGHITNCFLSVEGTDGDKAYLMTEGSDEKKSVKTVNQLAHALHMDKDLKAGCLVRVFWPKAKCALLRDDLVLVDSPGTDVTTELDSWIDKFCLDADVFVLVANSESTLMNTEKHFFHKVNERLSKPNIFILNNRWDASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEAQNRIFFVSAKEVLSARKQKAQGMPESGVALAEGFHARLQEFQNFEQIFEECISQSAVKTKFEQHTIRAKQILATVKNIMDSVNLAAEDKRHYSVEEREDQIDRLDFIRNQMNLLTLDVKKKIKEVTEEVANKVSCAMTDEICRLSVLVDEFCSEFHPNPDVLKIYKSELNKHIEDGMGRNLADRCTDEVNALVLQTQQEIIENLKPLLPAGIQDKLHTLIPCKKFDLSYNLNYHKLCSDFQEDIVFRFSLGWSSLVHRFLGPRNAQRVLLGLSEPIFQ|slallprlecsva* 11BR030 ENSG00000174891.13 ENSG00000163558.13 +/+ +/- chr3:158203245 chr3:170237525 CDS/splice-site intron inversion/3'-3' 3 1 0 163 3 high out-of-frame . . . . ENSG00000174891.13 ENSG00000163558.13 ENST00000480820.5 . downstream downstream . ^(CGGACTGCCGGGCTGCTGCGGTCGTCGCGGCCCGCCTCGGTGCAGCCGGTCGGCTCCTTGGCCCCGCGCAGCGGCCCGCTCTCCAGCACCTCCCGGTACGTGATCGCCTCCTTCTTCTCCTTCACTTTCTGGTCAAAAGACTTGGAGACGAACGCC___AAATGGGACGTCGGTCATCAGATACTGAAGAAGAAAGCAGAAGCAAGAGAAAAAAGAAACACCGTAGACGGTCCTCCTCGAGCAGTTCTTCAGATAGTAGAACATACAGCCGAAAGAAAGGAGGAAGGAAATCAAGATCAAAGTCAAGATCTTGGTCCAGAGATCTTCAGCCTCGTTCACATTCTTATGATAGAAG___ACGCAGGCATCGATCAAGCAGTAGCTCTTCTTATGGCTCCAGAAGGAAACGAAGTCGAAGTCGTTCAAGGGGTCGAGGGAAATCCTATAGAGTTCAGAGGTCTAGGTCAAAAAGCAGAACAAGAAG___GTCCAGGTCAAGACCTCGTCTCCGTTCT)CATAGTCGTAGCAGTGAAAGGTCCAGTCACAGAAGAACGCGTAGTCGGTCTCGGGATAGAGAACGACGTAAGGGCAGAGATAAAGAGAAAAGAGAAAAGGAGAAGGATAAAGGGAAGGACAAGGAATTACATAACATCAAACGTGG|GTTTTCAAGGAGCAGGTGGTGTTTGGTTACATGAGTAAGTTCTTTTAGTGGTGACTTCTGAGATTTTGCTGCACCTATCACCTGAGCAGTGTACACTGTACCCAATATGTAGGCCTTTATCCCTCACCCCCAACCCACCCTTTCTTTAGGG MGRRSSDTEEESRSKRKKKHRRRSSSSSSSDSRTYSRKKGGRKSRSKSRSWSRDLQPRSHSYDRRRRHRSSSSSSYGSRRKRSRSRSRGRGKSYRVQRSRSKSRTRRSRSRPRLRSHSRSSERSSHRRTRSRSRDRERRKGRDKEKREKEKDKGKDKELHNIKRg|fsrsrwclvt* 11BR030 ENSG00000259984.1 ENSG00000183726.11 -/- +/+ chr1:25337040 chr1:25342961 exon/splice-site CDS/splice-site inversion 2 1 1 8 284 high . . . . . ENSG00000259984.1 ENSG00000183726.11 ENST00000570165.1 ENST00000374358.5 upstream upstream duplicates(1) ^(ATGACTTAGCTACGTGAAAGACTTGCGGCCGGGCTCGCCCCTCTTCTAGAAGCCGTCAGTTTGGGTCTCGCGTCTGGAATCACCGTCAAGGAGTCAGATCCAGCCCCGGAGAGGGAGCAGGGTCGAGGTCTCCTTGCAGAAGGCGCCACCGCAGGAAGCACAGGCGCAACGTGCGGTCTCCCT)AGCGGAGGCGCTCGCGATCCTGCAGCCGCCGGTCCGGGAGGTGCTCGGTAGCCCTCCTTGGTGCCTGTCCGGTAGCTGGTCACTCTCGGGGGAAGGTCGTGTGCAGAAGGGCACATGCGATCACACAGAGACGGCGTTGCTGCGGCTTTGACCCGATGGTGCACCCGAAAGAACACAGAGGGTGAAGGGAGAGATCCAGGAAGTGGTCGCGGAGCAGAACCCCCCTTCACTTCAGTTAAAAAG|TTTTTTACAGGCTGGTGGATTATCATAGATGCAGCTGTTATTTATCCCACCATGAAAGATTTCAACCACTCATACCATGCCTGTGGTGTTATAGCAACCATAGCCTTCCTAAT___GATTAATGCAGTATCGAATGGACAAGTCCGAG(GTGATAGTTACAGTGAAGGTTGTCTGGGTCAAACAG___GTGCTCGCATTTGGCTTTTCGTTGGTTTCATGTTGGCCTTTGGATCTCTGATTGCATCTATGTGGATTCTTTTTGGAGGTTATGTTGCTAAAG___AAAAAGACATAGTATACCCTGGAATTGCTGTATTTTTCCAGAATGCCTTCATCTTTTTTGG___AGGGCTGGTTTTTAAGTTTGGCCGCACTGAAGACTTATGGCAGTGAACACATCTGATTTCCCACAGCACAACAGCCCTGCATGGGTTTGTTTGTTTTTTTACTGCTCACTCCCAACCTTTTGTAATGCCATTTTCTAAACTTATTTCTGAGTGTAGTCTCAGCTTAAAGTTGTGTAATACTAAAATCACGAGAACACCTAAACAACAACCAAAAATCTATTGTGGTATGCACTTGATTAACTTATAAAATGTTAGAGGAAACTTTCACATGAATAATTTTTGTCAAATTTTATCATGGTATAATTTGTAAAAATAAAAAGAAATTACAAAAGAAATTATGGATTTGTCAATGTAAGTATTTGTCATATCTGAGGTCCAAAACCACAATGAAAGTGCTCTGAAGATTTAATGTGTTTATTCAAATGTGGTCTCTTCTGTGTCAAATGTTAAATGAAATATAAACATTTTTTAGTTTTTAAAATATTCCGTGGTCAAAATTCTTCCTCACTATAATTGGTATTTACTTTTACCAAAAATTCTGTGAACATGTAATGTAACTGGCTTTTGAGGGTCTCCCAAGGGGTGAGTGGACGTGTTGGAAGAGAGAAGCACCATGGTCCAGCCACCAGGCTCCCTGTGTCCCTTCCATGGGAAGGTCTTCCGCTGTGCCTCTCATTCCAAGGGCAGGAAGATGTGACTCAGCCATGACACGTGGTTCTGGTGGGATGCACAGTCACTCCACATCCACCATTGAAGGAAAGGAAAAAAGGGCAGAGACTTGACACTCCAGTCTTAGACAGGGGACAATTTCTTTGTAGTTGTTCTGATAATAAACTGGGTTCCATGTTGCATTTCATCTGTGTACTGAACCACTAGCCTAATAGACCAGCACGGTCAACTAGAATGACAAACATTAGCTACTGGGAACTCTTGTTGTCTCTTCCTCTTCAGAACTCTTGTCCCCCCAGGCTCCCCACCTCTGCAAGATGGGATACACTCTTCAGGACCACAGTTTGAAATGTCTTTCATAAAATGTGCTACAATTAGCCTTCGGAATATTTGCTGGGTGATTTAAATGTGTGGGTCTCATTTCCATGCTAGCCATGGTCATCTGACAGTCTCTACACTGTGAATATTGCCTGGTGATCAAGACTCTCCTCAAAGAAATGACTTGCTGTCATCCCACATGAACTCCTGATGTTTTTTCTACAAAAGTCCATAAAATGTGAAAACTGGAGAAGATCTTAGAGGTTGAAGCCCACCTTCTCTTTTCACATAGGAGGGAACAGACCATGGAAATTTAAACGACTTCCTCACGGTCACAGAACTAGTTTTTTAATCCTCAGGCAGTGCATCCCCCCACCCTACAACTGAGCACAACCTCTTTCCCCACAGTGCAATTCAGAATATGCTCAGGGAATGCCAGCCACCTTGTAAAACTGCTGGGAGAAAAGCATGATTCCCACAAGGACTAAGTATCAGTGATTTGTAATTTTCCTGTTTTGTATTATCTGCTTTGCTGATGTAGACAAGAGTTAACTGAGTAGCATGCTTTATTAAGCATGAGAAAGAATCTTAAGAATTGTCAATAAAATTAACCCAAAACTTTAATAATGTGTCTGTAACCAAGAAAATATTGATAGCATCATCCTAATGAAACTAAACATTTATTTTAAACTTATTAAATTGACTCTTAAACTAA)$ . 11BR030 ENSG00000141376.22 ENSG00000108370.17 +/+ +/+ chr17:60924500 chr17:65225002 CDS/splice-site CDS/splice-site deletion 2 1 0 41 4 high out-of-frame . . . . ENSG00000141376.22 ENSG00000108370.17 ENST00000589222.5 ENST00000635833.1 downstream upstream . ^(CTCGGGGAGACTCCAAACAGTGAGCCTAGAGCTGGAGACTAGCGTTAACCGGCGGGGCGGCCG___GTTTTATGAATGAAGCTATGGCTACAGATTCCCCAAGAAGACCCAGTCGTTGTACTGGTGGAGTTGTGGTTCGCCCCCAGGCTGTCAC___AGAGCAGTCCTACATGGAAAGTGTTGTGACTTTTCTGCAGGATGTTGTGCCACAG___GCTTACAGTGGAACACCTCTAACAGAAGAAAAGGAGAAAATAGTCTGGGTCAGATTTGAAAATGCAGATTTAAATG___ATACATCAAGAAATCTGGAATTTCATGAAATACATAGTACTGGGAATGAACCGCCTTTGTTGATTATGATTGGCTACAGTGATGGAATGCAGGTCTGGAGCATCCCT___ATCAGTGGTGAAGCACAAGAGCTCTTCTCTGTTCGACATGGCCCAATTCGAGCGGCTAGAATCTTGCCTGCTCCACAGTTTG___GTGCTCAAAAATGTGATAACTTTGCTGAAAAAAGACCCCTCCTTGGTGTTTGTAAGAGCATTGGATCTTCTGG___CACAAGCCCACCGTACTGTTGTGTGGATCTGTATTCACTTCGTACTGGGGAGATGGTCAAGTCCATTCAATTTAAGACACCTATTTATGATCTCCATTGCAATAAACG___GATCCTTGTCGTAGTCTTGCAGGAGAAAATTGCTGCCTTTGATAGCTGTACTTTCACGAAGAAATTCTTTGTTACAA___GCTGCTATCCATGTCCAGGGCCAAACATGAATCCTATTGCTCTTGGGAGCCGCTGGCTTGCTTATGCAGAAAACAAG___TTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAA___ACATTGAAAAGTGGCCTGACAATGGTAGGGAAAGTGGTGA)CTCAGCTGACAGGCACACTGCCTTCAGGTGTGACAGAAGATGATGTTGCCATCCACAGTAATTCACGGCGGAGTCCTTTGGTCCCAGGCATCATCACAGTTATTGACACCGAAACCGTTGGAGAGGGCCAG___GTGCTTGTGAGTGAGGATTCTGACAGTGATGGCATTGTGGCCCACTTCCCTGCCCATGAGAAGCCAGTGTGCTGCATGGCTTTTAATACAAGTG|CCGGGCCAGCACATGGCTCCCAGCCCCCATCTGACCGTGgtCACCGGGACCTGCATGCCCCCGTCTCCTTCTAGCCCCTTCTCCTCCTCCTGCCGCTCCCCCAGGAAGCCTTTCGCCTCACCCAGCCGCTTCATCCGGCGACCCAGCACCACCATCTGCCCCTCACCCATCAGAGTGGCCTTGGAGAGCTC(ATCGGGCTTGGAGCAGAAAGGGGAGTGCAGCGGGTCCATGGCCCCCCGTGGGCCCTCTGTCACCGAGAGCAGCGAGGCCTCCCTCGACACCTCCTGGCCTCGCAGCCGGCCCAGGGCCCCTCCTAAGGCCCGCATGGCTCTGTCCTTCAGCAGGTTTCTGAGACGAGGCTGTCTGGCCTCACCTGTCTTTGCCAGGCTCTCACCCAAGTGCCCTGCTGTGTCCCACGGGAGGGTGCAGCCCCTGGGGGACGTGGGCCAGCAGCTGCCACGATTGAAATCCAAGAGAGTAGCAAA___CTTTTTCCAGATCAAAATGGATGTGCCCACGGGGAGCGGGACCTGCTTGATGGACTCGGAGGATGCTGGAACAGGAGAGTCGGGTGACCGGGCCACAGAAAAGGAGGTCATCTGCCCCTGGGAGAGCCTGTAAGGAAAGAGGCAGGCTGAGCTGGGGGCTCTGGACCAGGAAGATGCTCTGACAGATGCCATGGTATGGGCCACAGGACACACTTGCTCGAGAACCAAAGTGCATTTGGGTGACATTTGAAGATTGGGGAGACAAGATGGGGTAGATTGTGGCAAAGAATGCTCTGGCTGGTTACCAGGGGCCAACTCCTTCTCCTCTTCCTGACCCTCCCTCCCCTGGGCAGAAGAAACGCATGTGGACCAGAAGACTTTCCCTGCTGCCTTAAAACCAATAAAAGGTTAACTTT)$ MNEAMATDSPRRPSRCTGGVVVRPQAVTEQSYMESVVTFLQDVVPQAYSGTPLTEEKEKIVWVRFENADLNDTSRNLEFHEIHSTGNEPPLLIMIGYSDGMQVWSIPISGEAQELFSVRHGPIRAARILPAPQFGAQKCDNFAEKRPLLGVCKSIGSSGTSPPYCCVDLYSLRTGEMVKSIQFKTPIYDLHCNKRILVVVLQEKIAAFDSCTFTKKFFVTSCYPCPGPNMNPIALGSRWLAYAENKLIRCHQSRGGACGDNIQSYTATVISAAKTLKSGLTMVGKVVTQLTGTLPSGVTEDDVAIHSNSRRSPLVPGIITVIDTETVGEGQVLVSEDSDSDGIVAHFPAHEKPVCCMAFNTS|agpahgsqppsdrghrdlhapvsf* 11BR030 ENSG00000163558.13 ENSG00000174899.11(175955),ENSG00000242536.2(37634) +/+ ./+ chr3:170280403 chr3:157777188 CDS/splice-site intergenic duplication 2 1 0 224 13 high out-of-frame . PB1_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_domain(100%)| . . ENSG00000163558.13 . ENST00000295797.5 . downstream upstream . ^(GACGCAGGAGGTGTCTTGGGCCCGGGCGGCTGTAGAGGCGGCGGCGCCTACGGGCAGTGGGAGGAGCCGCGCGGTTCCGGCTGCTCCGGCGAGGCGACCCTTGGGTCGGCGCTGCGGGCGAGGTGGGCAGGTAGGTGGGCGGACGGCCGCGGTTCTCCGGCAAGCGCAGGCGGCGGAGTCCCCCACGGCGCCCGAAGCGCCCCCCCGCACCCCCGGCCTCCAGCGTTGAGGCGGGGGAGTGAGGAGATGCCGACCCAGAGGGACAGCAGCACCATGTCCCACACGGTCGCAGGCGGCGGCAGCGGGGACCATTCCCACCAGGTCCGGGTGAAAGCCTACTACCGCGG___GGATATCATGATAACACATTTTGAACCTTCCATCTCCTTTGAGGGCCTTTGCAATGAGGTTCGAGACATGTGTTCTTTTGACAACGAACAGCTCTTCACCATGAAATGGATAGATGAGGAAG___GAGACCCGTGTACAGTATCATCTCAGTTGGAGTTAGAAGAAGCCTTTAGACTTTATGAGCTAAACAAGGATTCTGAACTCTTGATTCATG___TGTTCCCTTGTGTACCAGAACGTCCTGGGATGCCTTGTCCAGGAGAAGATA___AATCCATCTACCGTAGAGGTGCACGCCGCTGGAGAAAGCTTTATTGTGCCAATGGCCACACTTTCCAAGCCAAGCGTTTCAACAGG___CGTGCTCACTGTGCCATCTGCACAGACCGAATATGGGGACTTGGACGCCAAGGATATAAGTGCATCAACTGCAAACTCTTGGTTCATAAGAAGTGCCATAAACTCGTCACAATTGAATGTGGGCGGCATTCTTTGCCACAG___GAACCAGTGATGCCCATGGATCAGTCATCCATGCATTCTGACCATGCACAGACAG___TAATTCCATATAATCCTTCAAGTCATGAGAGTTTGGATCAAGTTGGTGAAGA)AAAAGAG___GCAATGAACACCAGGGAAAGTGGCAAAGCTTCATCCAGTCTAGGTCTTCAGGATTTTGATTTGCTCCGGGTAATAGGAAGAGGAAGTTATGCCAAAGTACTGTTGGTTCGATTAAAAAAAACAGATCGTATTTATGCAATGAAAGTTGTGAAAAAAGAGCTTGTTAATGATGATGAG|AAAGCCTTGAGGAAACATGGAGTTTCTGAATCCTCTACCATGTTCGCAAGTGAAGGAGAAACATTTTCATTCAGATACCGATTGAACAACACCTACCTATG___GGTATCCCTCCCAAAGAGAGTTACCAGCCCTCAAGGGACTTCTGGAT MPTQRDSSTMSHTVAGGGSGDHSHQVRVKAYYRGDIMITHFEPSISFEGLCNEVRDMCSFDNEQLFTMKWIDEEGDPCTVSSQLELEEAFRLYELNKDSELLIHVFPCVPERPGMPCPGEDKSIYRRGARRWRKLYCANGHTFQAKRFNRRAHCAICTDRIWGLGRQGYKCINCKLLVHKKCHKLVTIECGRHSLPQEPVMPMDQSSMHSDHAQTVIPYNPSSHESLDQVGEEKEAMNTRESGKASSSLGLQDFDLLRVIGRGSYAKVLLVRLKKTDRIYAMKVVKKELVNDDE|kalrkhgvsesstmfasegetfsfryrlnntylwvslpkrvtspqgtsg 11BR030 ENSG00000124198.9 ENSG00000285091.1 +/+ -/- chr20:48922010 chr20:58919869 CDS/splice-site intron inversion 2 1 0 37 2 high out-of-frame . Dimerisation_and_cyclophilin-binding_domain_of_Mon2(100%)| . . ENSG00000124198.9 ENSG00000285091.1 ENST00000371917.5 . downstream downstream . ^(ACGTGGTCACGTGACGCGCTCCAACATGGCGGCGCCGTGGGGCCGAGGTGTCGCTTCCTGACGGGGCGGCGCGGACGGACGCGGCCGGTGCCGGCCGGGACGCCGGGCCCGCAGCCTAGCTCGCCATCTCGCTCACGCCGCCCGCCCGCGGGGCCGTCAGCCCCCGCCGGGCCGGGGCCATGCAGGAGAGCCAGACCAAGAGCAT)GTTCGTGTCCCGGGCCCTGGAGAAGATCCTAGCCGACAAGGAGGTGAAGCGGCCCCAGCACTCCCAGCTGCGCAGGGCCTGCCAGGTGGCGCTCG|AAAGACGGGGTTTTGCCATGTTATCCAGGCTGATCTCGAACTTCTGGACTCAAGTGATCCACCCGCCTTGGTCTCCCAAAGTGCTgGGATTACAGGCATGAGCCACTGTGCCTGTCCTAGTG MQESQTKSMFVSRALEKILADKEVKRPQHSQLRRACQVAL|errgfamlsrlisnfwtqvihppwspkvlglqa* 11BR030 ENSG00000162407.9 ENSG00000175104.15 -/- -/- chr1:56578878 chr11:36501537 CDS/splice-site 5'UTR/splice-site translocation 2 1 0 81 19 high out-of-frame . |TRAF-type_zinc_finger(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%) . . ENSG00000162407.9 ENSG00000175104.15 ENST00000371250.4 ENST00000526995.6 upstream downstream . ^(AGAAAACAAACCCAGGCGATCACAGCAGCAGCCGCCGCGGCAGCAGCACCAACAGCAGGAGGAGCAGGAGGAGCCGGAGGAGGAGGAGGAGGAGGAGGCAAAGTTAGAGTTGGGGCTGGCGCTCCGGAGTTGCTGGGCTCAGCGCAGCTCCCATTCATTAAGGAACCAGCTGCGGAGGAAGGTGGCCGAGCGCCCGCGCTGCCCACTCGCTCGCTCGCGCACTCAGACGCGCGCCACAACAGCGCGCCCCAAGCTGCGCAGCTCTGCAAAAGTTTCTGCTCGGGATCTGGCTCTCTTCCCCTTGGACTTTAGAACGATTTAGGGTTGACAGAGGAAAGCAGAGGCGCGCAGGAGGAGCAGAAAACACCACCTTCTGCAGTTGGAGGCAGGCAGCCCCGGCTGCACTCTAGCCGCCGCGCCCGGAGCCGGGGCCGACCCGCCACTATCCGCAGCAGCCTCGGCCAGGAGGCGACCCGGGCGCCTGGGTGTGTGGCTGCTGTTGCGGGACGTCTTCGCGGGGCGGGAGGCTCGCGCCGCAGCCAGCGCCATGCAAAACTACAAGTACGACAAAGCGATCGTCC)CGGAGAGCAAGAACGGCGGCAGCCCGGCGCTCAACAACAACCCGAGGAGGAGCGGCAGCAAGCGGGTGCTGCTCATCTGCCTCGACCTCTTCTGCCTCTTCATGG|AGCAAGTGATAATCAAGTTACTATGAGTCTGCTAAACTGTGAAAACAGCTGTGGATCCAGCCAGTCTGAAAGTGACTGCTGTGTGGCCATGGCCAGCTCCTGTAGCGCTGTAACAAAAGATGATAGTGTGGGTGGAACTGCCAGCACGGGGAAC(CTCTCCAGCTCATTTATGGAGGAGATCCAGGGATATGATGTAGAGTTTGACCCACCCCTGGAAAGCAAGTATGAATGCCCCATCTGCTTGATGGCATTACGAGAAGCAGTGCAAACGCCATGCGGCCATAGGTTCTGCAAAGCCTGCATCATAAAATCAATAAG___GGATGCAGGTCACAAATGTCCAGTTGACAATGAAATACTGCTGGAAAATCAACTATTTCCAGACAATTTTGCAAAACGTGAGATTCTTTCTCTGATGGTGAAATGTCCAAATGAAGGTTGTTTGCACAAGATGGAACTGAGACATCTTGAG___GATCATCAAGCACATTGTGAGTTTGCTCTTATGGATTGTCCCCAATGCCAGCGTCCCTTCCAAAAATTCCATATTAATATTCACATTCTGAAGGATTGTCCAAGGAGACAGGTTTCTTGTGACAACTGTGCTGCATCAATGGCATTTGAAGATAAAGAG___ATCCATGACCAGAACTGTCCTTTGGCAAATGTCATCTGTGAATACTGCAATACTATACTCATCAGAGAACAG___ATGCCTAATCATTATGATCTAGACTGCCCTACAGCCCCAATTCCATGCACATTCAGTACTTTTGGTTGCCATGAAAAG___ATGCAGAGGAATCACTTGGCACGCCACCTACAAGAGAACACCCAGTCACACATGAGAATGTTGGCCCAGGCTGTTCATAGTTTGAGCGTTATACCCGACTCTGGGTATATCTCAGAGGTCCGGAATTTCCAGGAAACTATTCACCAGTTAGAGGGTCGCCTTGTAAGACAAGACCATCAAATCCGGGAGCTGACTGCTAAAATGGAAACTCAGAGTATGTATGTAAGTGAGCTCAAACGAACCATTCGAACCCTTGAGGACAAAGTTGCTGAAATCGAAGCACAGCAGTGCAATGGAATTTATATTTGGAAGATTGGCAACTTTGGAATGCATTTGAAATGTCAAGAAGAGGAGAAACCTGTTGTGATTCATAGCCCTGGATTCTACACTGGCAAACCCGGGTACAAACTGTGCATGCGCTTGCACCTTCAGTTACCGACTGCTCAGCGCTGTGCAAACTATATATCCCTTTTTGTCCACACAATGCAAGGAGAATATGACAGCCACCTCCCTTGGCCCTTCCAGGGTACAATACGCCTTACAATTCTTGATCAGTCTGAAGCACCTGTAAGGCAAAACCACGAAGAGATAATGGATGCCAAACCAGAGCTGCTTGCTTTCCAGCGACCCACAATCCCACGGAACCCAAAAGGTTTTGGCTATGTAACTTTTATGCATCTGGAAGCCCTAAGACAAAGAACTTTCATTAAGGATGACACATTATTAGTGCGCTGTGAGGTCTCCACCCGCTTTGACATGGGTAGCCTTCGGAGGGAGGGTTTTCAGCCACGAAGTACTGATGCAGGGGTATAGCTTGCCCTCACTTGCTCAAAAACAACTACCTGGAGAAAACAGTGCCTTTCCTTGCCCTGTTCTCAATAACATGCAAACAAACAAGCCACGGGAAATATGTAATATCTACTAGTGAGTGTTGTTAGAGAGGTCACTTACTATTTCTTCCTGTTACAAATGATCTGAGGCAGTTTTTTCCTGGGAATCCACACGTTCCATGCTTTTTCAGAAATGTTAGGCCTGAAGTGCCTGTGGCATGTTGCAGCAGCTATTTTGCCAGTTAGTATACCTCTTTGTTGTACTTTCTTGGGCTTTTGCTCTGGTGTATTTTATTGTCAGAAAGTCCAGACTCAAGAGTACTAAACTTTTAATAATAATGGATTTTCCTTAAAACTTCAGTCTTTTTGTAGTATTATATGTAATATATTAAAAGTGAAAATCACTACCGCCTTGTGCTAGTGCCCTCGAGAAGAGTTATTGCTCTAGAAAGTTGAGTTCTCATTTTTTTAACCTGTTATAGATTTCAGAGGATTTGAACCATAATCCTTGGAAAACTTAAGTTCTCATTCACCCCAGTTTTTCCTCCAGGTTGTTACTAAGGATATTCAGGGATGAGTTTAAACCCTAAATATAACCTTAATTATTTAGTGTAAACATGTCTGTTGAATAATACTTGTTTAAGTGTTCCTTCTGCCTTGCTTACTTATTTCCTTGAGGTTACGAAGTAGCATCTTCCCCAGAGTTTATAATGCTGAGAACCACGTGGATACCAACTGCTCATTGTTATGCTATGTAACCCTTTTTGTCTATTCAGTGCAGAGTGAATTTCACAGCTCTGCATATGTCTTCATTTGTTTAATGCTTACAAGACAGGAGATGCACACATACAATCAGCAACATAAAAATTAAAAGTGACCCAAGTAGTCAGCGCATGTGGCATCTCATTGGTGGTGACAGAAGCTATGTGAGCCAGAAGTTTTCAGCTCTTTTGAATACCCTCTGGTTTATTTCGATTAAAAAGAACAAAATTGATTTCCTAAAATCAGAATTTTTTAAAACTTGGGAGATGATTGGAGATACCTAGGAGGTCACCAAACTAGGATTAGAAGTCACAGTGGTTGTATCACAACTTAGCTTGAGTATGTTGCTGTAGCCTAACAACTGCAGGTTCTGAGAAGGATCCTGTAGAATCCTGGAAGTAACCAGATTTTCCTAATAGGGAGATGATTTTTTTGTGTGCCATCATGTATTTGTTAAAGGCCTATATATAGATATAAAATATCGTGGAATCTAGTTCTCAGGGAGACCCGCAACTAGTATAAGCTTATAAAGGATCTAAAGATCCATCCACCATTTAAAGTTGTCTGGTAATGAGAGATGACATTGTATCCCCCAGAGAGGCCAAATCAGAGTCGCCAGCCAGCGTTCTAGATCAGCCTTAATTTCAAGAGAAAGCCAAGGACCTCATCTGCAGGGGAGTGTGGTTTTCAGCCCCAGCGAGTGTCACTTTGAACTTTCCCTTTGCTTTTTTCTCTCTTCTCCCTCCCCACCCACCCTTAGGCTCCTGATCTGGTGAGTTTGTTATGGAGTGAAAATAAAAGTCAAGCAGAGACCTTGTTTCCCGTGCCACCATTAGTACCACAAGCTCATGGCTAGTTACCACATTACTTCCTGGCAGTTTGTGTCCCTCAGCTGTGCCTTCCAACCAGCGCCTGAGAATCACTGCATACCACCCTCTAGGTAGGGAAACCTACACTGCTGCTGTTCCTGTGATTATTTTACAATGAATAAATAATTGTCAAGTTCCATTTAAAAACTGAACAGTAGTATTTTTGTATTTGCGTAGAAAAAGCCTGAAGGAAATATACTAAACTTTTTGTTGGCTTATTTTCCTTTGCGCTTGCTTATATTTTTTACATTTTCTACAATAAATGTGTACTTTTATCGGAGAAAAAAATTAAATGTTGCCACAAAACATTTAATCTCCACGCCCCCAGCTCAAAAAAGGAAATGATATTTAAAAGCTTCCTGGTCAGATTTCTATTAAAAGCACTGGCTGTGCATTAGATACAAAGAGGAGTCATTTCCTGCCTTGGTGATACTATTTTTTTCTACTAACTCAAGAGTCTTTATTAAAAAAAAAAGTTGTTTTGCCTAATTTCAGCTTTTAGCAAGCTTCCCATCTGTAAAATGATTTGGACCAGATATTTCTAGAGTCCCCTCCAGCCATAACATTCTGTCTCAAATTAAGTTCCAACCAGCAGAACAATGACAATACTTAGGAAAGTATTTTGCCAGTATAAAATGTCTTTAACTTACTCTTTGCTGACACTGATACTTTCCTCTAATTTAGTGTCTATCAGCTGGGTCACATCTTAAGTAAAATGAGCAATTTTAACCCCCAACATTTGGCATTTTGTCATAAACCAGCCAGTTATTTTATGCTGGTCATTCATCTTGACTACAAAGTAGAATAGTCAAGCTGTCATTCCAAATAGAAAACTTTTTACTTCAATCAGAATTAAGCCTTAACCTGGAAAGTTGGTTTCTTCCTTACATTTTCCCAATCTCCTACTCTATTCTTAAACATGCTAGTTTCACTCAGTTGGGTATACAAGCCTTTGGGCTTTATGTTGTATGTTACTAACCACCTTTTACCATATTTATCTTTTGGCATCATTCTGGGACATTGCTAAATTAAAAAAGAAATTGTTTCCACTTTTTTCTGGAGATGTTCAACTAAAGGTTGTTTTGTTTTGTTTTTTGTTTTGAGACAGTCTCACCCTGACGCTCAGGCTGGAGTGCAGTGGTGCAACCTCGGCTCACTGCAACCTCCACCTCCCGGGCTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTGAGTAGAGACCGGGTTTCACCATATTGGCCAGTCTCGTCTGGAACTCCTGACCTCAGATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCGTCCAACCCACTGTTGGATGAAACTTGCTGCACGTCATACATTTTGCTGTTGGCAAACAAGTCTGAATGTTGATTTGAAGTTTGGTAGTTTATTACTATCTATTGGCAGCAAAGACTGTTTATTGGTATACTACAATATGATTTAACTTTTATTTTGGGGATAAATAGTAGAAAAAAGTGAAACAGAATGAAGGCAGGTGTTTTTTATTCTAATGATGGAATAATACAGAGATACTGGACGATCTCTAGCAGTTAATTATTGTGACCCATATAAAATTATACAGGTCACAGTATAATTCTCTATTACCGTTTTTACACCAGTAAGTCTTAGATAAACTAAGCATGCTTATGAATTATGTATACAGTTAGAATGCATTATTTTTACAGAGGAACAATTGCTTGTATGTACTAACACTGTTCTCTTGGCTTGCCTCAAGTTCTACTCATTATTTTATATAAAATACTATTAGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTGGAGGCTGGCGGATTACTTGAAGCCAGGAGTTCGAGACCAGCCTGGCCAAAATGGTGAAACCCCATCTCTATAAAAATACAAAAATTAGCCAGGTGTCATGATACATGCCTGTAATCCCAGCTTCTTGGGAGGCTGAGGCACGGGAATCGCTTGAACCCGGGAAGCACAGGTTGCAGTGAGCCAAGATCATGCCACTGCACCCCCAGCCTGGGTGACAGAGTGCAACACTGTCTCACAAAACAAAACAAAAACATCAGATTCTGTTTGTGATGCCTAGTTGCTTACAACCTAAACAGTGCAATGCCTTAAGGAAATGAAAAGGAGCCATAAGTAGTCATTTATATTTTTATTTTGAAGTGTGCTTTTTCTAAACTCCCAGATTGACATGATGGACTGTAAGTTAGTTTCTCTGTTTCTGTCTTTGTGCCTGTAGAGTGTACTTGGCACTTACAAATTCCCAGTATCCAGAAAGATGATCTGATGAAATCAAATTGGATGGATCTTGGCAGACTGTGACACTCAATTACAGCCTTCACTTTCAGTCAAAAACGGACACTTGGCAAGGAGGTGCCTGGTTGTTTCACTAAATGTCACTTGTGTGTGTAATATTTTAAAGCTTTTTCCCCACAGGAAATTCGGGTCATAAAATCCTGAAAAATAATTCTAGGTGGGAAAAGCATTTTAGGAAATGAGAGATGTGGTGCTGCTTTTCTTCTCTCAGAGTGCTTTCTCAGCAGGACACTAGCCCTGCCTTTAAGATGGGGAAGTTGGGGCATGTGCCTCTGCTCTTACTGTCTGCAGCTCTGAAGGTAGGTGCTGTCCCACTCGGACAATCGCCCAAGCAGCAGTGACCATAGTTCTCTTCTATGCAAGTCCCCAGGAGAAGGTAAACTGTGTGGAATGGGGATGTGTTCTGGTTGCTGCTGAATCCCCTCTTCTTACCACAGTGCCTGGCACGTTGCACACACTCAAATACGTAATAATGAACATTTATTGAAAGCAGCAGTTGAAGCTGACCAATTTCTGGTACCTTGTCATGTAAATTTTAGATGGTAAGGCGCAGATGTTACTTTTTTTGCTTTTTTTCTTCAGCACTTGATGAAATTTCCCAAACATGCAGAAATGTTGAAAGACTTGTATAGTGAACATCTACGACCTAGAATCTGCAGTAATATTATGTTACATTTGCTTTATCACTTGATAGATGTTACTTTTAATGAGACTTCAAGTTTGGTTTCTCTAAACAAAATATTCTAAAATAACTGAACAACTTTAATCAATTTGTCTTAAGTTCTTTGGGGGAACTTGGGACATTTGCTTTGTAACTGGAATTGCAGCCCTCACGTTAAGCTAATTTTAAACTTTGCAAATTTGTTATGCTGAATTTCAGTCTTATTTATTTTGCCTGAAGGGGTATTTTTTGTAATGGATTTATTTGAAGGTCCTTGATAAATTGTGCAGAATATTCTCGTGTTCTTTTTGCACTTGATAAATTATCTAATTTCTGTGGTGAGAATGTAATTTGGGGCCTATTTTGTTTATACAAGCTTCCAGAATTATGTTCTCAGAGGGATGAAAAGGTGTAATTTAGCATATAGGTCACTAAATTAGGAGCTAAGACACATTTTCTCCTGACTGACCATGGGTCAATCAGTTTTGTCTTCGTGTCCTTTTCCTTGTAAAGTAGAAACTAGAATTTGAAATTTAAATATTAAATAATGGGTAACATTCATTAATGTATGACTCTATTAAGAAAGACACTGTGAATCCAGGGAGGATTCTCATAATTCTGTAAACTGTATGACAAGCTGTGGAATGAAATCTGACTTTTGAAAATTGAAAGACATCCAGTGGTCTTATCACAAAGCCTGCTTTTCCTCAGAACTTAACTATTGCCATGGAATTTGTAAGCAGTTATCCTAATCCATCTGGACTCTGAAAATGCATCCTTTATGAGAGGGAGTGAATGCAAAGATAAGGGTGGGGAAACACTAATCATGAAAAGAATGAAAATCAGTGTTCAGTTTTAAGAGCAGGTTGTATTGAAGGAAGGGATTAAAGGAATTATCCAGATTTGAGGTGGCACATCTTCCACCACTCCCTGCACCATCAGCATGCACGGAGCGCATAAAACAAGCCCTGCTCCTAATGGCAGTGAAACCTCGGATGGCCTCCATCAGGTCAATACAACTGAATTGCTGGGCTGACTTAAGATTGAAGGACTCCATTTTAGTAAGTAGAGAAGTGTGACCTTTCTCAACCCAGGTTGTGAATGTGGATTCACACTTATCTCAAAAAGGCACCTGGAGTTTTAACTTTATGTCATGTCTCAGTACTGGTTGCAAGGTATGACCAAAAGTGTTCCTTGAATGGCACCTTTTTGAATATTAATTTAGAAGAAAACATGCCAGACTGACATACTTACCCCCTCCGCACTGTTACTACTTCCTTACCAGCCCTATGTACTGCATCAATGTCTACAAGAAAGCACTCTTCATTAAAATGAAATATATATATTAAAA)$ MQNYKYDKAIVPESKNGGSPALNNNPRRSGSKRVLLICLDLFCLFM|eqviikll* 11BR030 ENSG00000130695.15 ENSG00000169504.15 +/+ +/- chr1:26272071 chr1:24789970 CDS/splice-site intron inversion/3'-3' 1 2 0 18 3 high out-of-frame . . . . ENSG00000130695.15 ENSG00000169504.15 ENST00000252992.8 . downstream downstream mismappers(1) ^(GCAACGGCCGTTAGAGGAGCTGAGGGAGGGAACCACCGCTCACCGCAGACGTGGTGGCTGCAGTCAGTCTTCCCGAGTGAGGGATTTCGCCGCCCGCTTTCAGGCCCGT___TTGGCTTAAATAACTGTGATTGATGGCCATGCAGGAGAAATATCCAACTGAGGGGATCTCTCACGTCACTTCACCGA___GTTCCGATGTGATTCAGAAGGGCAGTTCCCTGGGGACTGAATGGCAGACCCCAGTTATCTCGGAGCCCTTTCGGAGCCGCTTCAGCCGCTGTTCAAGTGTAGCCGACAGTGGGGACACAGCCATTGGTACATCATGCTCAGATATTGCGGAGG___ATTTTTGCAGCTCAAGTGGCAGTCCTCCTTTCCAGCCCATCAAAAGCCACGTAACCATTCCAACAGCCCATGTGATGCCTTCTACTTTAGGGACCTCTCCTGCCAAGCCAAATTCTACACCTGTTGGACCCTCTTCCTCTAAACTCCCTTTGTCAGGGTTGGCTGAAAGTGTGGGAATGACAAGAAATGGAGACCTCGGTGCAATGAAACATTCTCCAGGCCTATCTAGAGATCTCATGTATTTCTCTGGTGCTACTGGAGAAAATGGAATTGAGCAGTCCTGGTTTCCAGCAGTGGGCCATGAAAGACAAGAAGAGGCGAGGAAGTTTGATATTCCTAGCATGGAATCTACCCTCAATCAGTCGGCAATGATGGAGACACTTTATTCAGATCCTCACCACCGAGTCCGCTTCCACAACCCAAGAACCAGCACAAGTAAGGAGTTGTACAGAGTGTTGCCTGAGGCCAAGAAGGCACCGGGCAGCGGGGCAGTGTTTGAGCGGAATGGACCACATTCTAATAGCAGTGGGGTCCTCCCTTTGGGACTCCAGCCTGCTCCCGGGCTCTCCAAGCCTCTGCCCTCTCAGGTGTGGCAGCCGAGTCCTGACACTTGGCATCCCCGAGAGCAATCTTGTGAACTCAGCACTTGTCGGCAGCAGCTGGAATTGATTCGTTTACAGATGGAGCAAATGCAG___CTTCAGAATGGAGCCATCTGCCACCATCCTGCTGCTTTTGGTCCTTCACTGCCCATCTTAGAGCCAGCACAGTGGATCAGCATCTTGAACAGTAATGAACACCTTCTGAAGGAAAAAGAGCTTCTCATTGACAA___GCAGAGGAAACACATCTCTCAGCTGGAGCAGAAAGTGCGAGAGAGCGAACTGCAAGTCCACAGTGCCCTCTTGGGCCGCCCTGCCCCCTTTGGTGATGTCTGCTTGCTGAGGCTACAG___GAATTGCAGCGAGAAAACACTTTCTTACGTGCACAGTTTGCACAGAAGACAGAAGCCTTGAGCAGAGAAAAGATTGACCTTGAAAAGAAACTCTCTGCTTCTGAAGTTGAAGTCCAGCTCATCAGAGAGTCGCTCAAAGTGGCGTTGCAGAAGCATTCTGAGGAAGTGAAGAAACAGGAAGAAAGG___GTCAAAGGTCGTGATAAACATATCAATAATTTGAAAAAGAAATGCCAGAAGGAATCAGAGCAGAACCGGGAGAAGCAGCAGCGTATTGAGACCTTGGAGCGCTACCTGGCTGACCTGCCCACACTGGAAGACCATCAGAAGCAGAGCCAGCAG___CTTAAGGATTCTGAGTTGAAGAGCACAGAGCTGCAGGAGAAAGTGACTGAGCTGGAGAGTTTGCTGGAGGAGACCCAGGCAATCT)GCAGAGAGAAGGAGATTCAACTGGAAAGCCTGAGGCAGAGAGAAGCAGAATTCTCCTCCGCTGGACATAG___CCTGCAAGATAAACAGTCTGTGGAGGAGACCAGTGGAGAAGGTCCAGAAGTGGAAATGGAGTCCTGGCAGAAGCGATACGATTCGCTCCAAAAG___ATTGTGGAGAAGCAGCAGCAGAAGATGGATCAGTTGCGCTCACAAGTACAG|AAATGTCAAAGGAGTCTTACTTGAGTGTCAGAAGTTTAAAGAGAAGGATTAAACAAGATCCAGAGTCTCTTAACATAGTATGAAAATGTCCATGTTTCAACTGAACGTGTCATACCAAGAATCATATCAAATGGAATGATCTGCTTGAAGCAAATGAAAAAACAGAAAGCCTCAG MAMQEKYPTEGISHVTSPSSDVIQKGSSLGTEWQTPVISEPFRSRFSRCSSVADSGDTAIGTSCSDIAEDFCSSSGSPPFQPIKSHVTIPTAHVMPSTLGTSPAKPNSTPVGPSSSKLPLSGLAESVGMTRNGDLGAMKHSPGLSRDLMYFSGATGENGIEQSWFPAVGHERQEEARKFDIPSMESTLNQSAMMETLYSDPHHRVRFHNPRTSTSKELYRVLPEAKKAPGSGAVFERNGPHSNSSGVLPLGLQPAPGLSKPLPSQVWQPSPDTWHPREQSCELSTCRQQLELIRLQMEQMQLQNGAICHHPAAFGPSLPILEPAQWISILNSNEHLLKEKELLIDKQRKHISQLEQKVRESELQVHSALLGRPAPFGDVCLLRLQELQRENTFLRAQFAQKTEALSREKIDLEKKLSASEVEVQLIRESLKVALQKHSEEVKKQEERVKGRDKHINNLKKKCQKESEQNREKQQRIETLERYLADLPTLEDHQKQSQQLKDSELKSTELQEKVTELESLLEETQAICREKEIQLESLRQREAEFSSAGHSLQDKQSVEETSGEGPEVEMESWQKRYDSLQKIVEKQQQKMDQLRSQVQ|kcqrslt* 11BR030 ENSG00000180198.16 ENSG00000230703.1 +/+ +/+ chr1:28516867 chr1:24081750 5'UTR/splice-site exon/splice-site duplication 0 2 1 24 12 high . . . . . ENSG00000180198.16 ENSG00000230703.1 ENST00000649185.1 ENST00000429191.1 downstream upstream . ^(AGACATTCCAGGACTTCCGGGCACTTCGTAAGGTTTAAAAAGGATGCTTCGCGTTTTCTCTCTCCTTTTTGGAGACAGATTCGCAGTGGTCGCTT)CTTCTCCTTG___GATTTGTTAAGGATTCCAAGTAACTCTTATTTG___GAGAGAAGACGATCTGCACTTCGCATTTTGGCATTGACATTTAATTTTAGGGTCCTTTATATAGAAGGGAGAGTAG___CTACATGAATGTGTAAGATCTTGGAGGAAGACAGCAGAGAGAGAGAGAGAGATCAGAGATCCCAGGGTTAAAAGTTGGAGAAATTTCACAGTACATCATCCAAAAGAGGAGTCCATGATGGAGGCAGAGGTAAACTTGGAGAG|ACAGGGTTTTGAACATGTTGCAGACTGGTCTCAAACTCCCAAACTCCTGAGCTCAAGCAATCCCAGCTCAAGCTTGGTGGCTCTAAACAGTTCTGTTCAAG . 11BR030 ENSG00000126351.13 ENSG00000249451.1 +/+ -/+ chr17:40063092 chr17:50505812 5'UTR/splice-site intron deletion/5'-5' 2 1 0 21 39 high . . . . . ENSG00000126351.13 ENSG00000249451.1 ENST00000584985.5 . downstream upstream . ^(GAGGCGGCCTGCAGGGAGCAGCCGCGAGCCGGCCGGGCGCGCCGAGCCCGAGCCCCAGCCGGAGCGGGGCGGGGGAGGGAGGAGCCAGAGCGGCCGCCGCCTCTGCCGGAGGAGCCGCGGGGCCGCCACACTCGCCCCCCGCCCCCCCCGCGCTCACTCGCACTCACACCCGGGCGCAGGAGGCGGGCGG)CCCGGGCCCCACCGGCCCCCCATGGACGCCCCCAGCACGGGGCGCTGAGACCCCCGCGTCGCTGCCCAGCCCGGTCCGGCGCGCCACGCCGAG|AGCTTCTGGGACAGCCACGGAGGTGAGCCATTCCTGTCTCCCTTCAAGAAAGAACTTGCCATTCACCCTCAAGGAGGGCAGTTAGCTGACAACTTCTAACAAACATTCTTTGCCCAGAGGACATGCTGGGTTGGC . 11BR030 ENSG00000141376.22 ENSG00000108370.17(31623),ENSG00000263520.1(198215) +/+ ./+ chr17:60924500 chr17:65259326 CDS/splice-site intergenic deletion 0 1 1 41 2 high out-of-frame . . . . ENSG00000141376.22 . ENST00000589222.5 . downstream upstream . ^(CTCGGGGAGACTCCAAACAGTGAGCCTAGAGCTGGAGACTAGCGTTAACCGGCGGGGCGGCCG___GTTTTATGAATGAAGCTATGGCTACAGATTCCCCAAGAAGACCCAGTCGTTGTACTGGTGGAGTTGTGGTTCGCCCCCAGGCTGTCAC___AGAGCAGTCCTACATGGAAAGTGTTGTGACTTTTCTGCAGGATGTTGTGCCACAG___GCTTACAGTGGAACACCTCTAACAGAAGAAAAGGAGAAAATAGTCTGGGTCAGATTTGAAAATGCAGATTTAAATG___ATACATCAAGAAATCTGGAATTTCATGAAATACATAGTACTGGGAATGAACCGCCTTTGTTGATTATGATTGGCTACAGTGATGGAATGCAGGTCTGGAGCATCCCT___ATCAGTGGTGAAGCACAAGAGCTCTTCTCTGTTCGACATGGCCCAATTCGAGCGGCTAGAATCTTGCCTGCTCCACAGTTTG___GTGCTCAAAAATGTGATAACTTTGCTGAAAAAAGACCCCTCCTTGGTGTTTGTAAGAGCATTGGATCTTCTGG___CACAAGCCCACCGTACTGTTGTGTGGATCTGTATTCACTTCGTACTGGGGAGATGGTCAAGTCCATTCAATTTAAGACACCTATTTATGATCTCCATTGCAATAAACG___GATCCTTGTCGTAGTCTTGCAGGAGAAAATTGCTGCCTTTGATAGCTGTACTTTCACGAAGAAATTCTTTGTTACAA___GCTGCTATCCATGTCCAGGGCCAAACATGAATCCTATTGCTCTTGGGAGCCGCTGGCTTGCTTATGCAGAAAACAAG___TTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAA___ACATTGAAAAGTGGCCTGACAATGGTAGGGAAAGTGGTGACTCAGCTGACAGGCACACTGCCTTCAGGTGTGACAGAAGATGATGTTGCCATCCACAGTAATTCACGGCGGAGTCCTTTGGTCCCAGGCATCATCACAGTTATTGACACCGAAACCGTTGGAGAGGGCCAG___GTGCTTGTGAGTGAGGATTCTGACAGTGATGGCATTGTGGCCCACTTCCCTGCCCA)TGAGAAGCCAGTGTGCTGCATGGCTTTTAATACAAGTG|ATGAGGTCTCTCTGTGCTGCCCAGGCTGGTCTCAACTCCTGACCTCAAGCAATCCTCCCCCATCTCCCTCCAGAGTAGCTGGGATTACAAACGTGAGCCACTGTGCCTGGCTGCATACTC___ACCCCCTGCTGGTGTGATTGGgGG MNEAMATDSPRRPSRCTGGVVVRPQAVTEQSYMESVVTFLQDVVPQAYSGTPLTEEKEKIVWVRFENADLNDTSRNLEFHEIHSTGNEPPLLIMIGYSDGMQVWSIPISGEAQELFSVRHGPIRAARILPAPQFGAQKCDNFAEKRPLLGVCKSIGSSGTSPPYCCVDLYSLRTGEMVKSIQFKTPIYDLHCNKRILVVVLQEKIAAFDSCTFTKKFFVTSCYPCPGPNMNPIALGSRWLAYAENKLIRCHQSRGGACGDNIQSYTATVISAAKTLKSGLTMVGKVVTQLTGTLPSGVTEDDVAIHSNSRRSPLVPGIITVIDTETVGEGQVLVSEDSDSDGIVAHFPAHEKPVCCMAFNTS|devslccpgwsqlltssnpppspsrvagitnvshcawlhthpllv* 11BR030 ENSG00000138814.17 ENSG00000249464.6 -/- +/+ chr4:101346739 chr4:123650163 CDS/splice-site exon inversion 1 1 0 42 2 high out-of-frame . . . . ENSG00000138814.17 ENSG00000249464.6 ENST00000394854.8 ENST00000661368.1 upstream upstream . ^(AGGTTGTGCCCGGGACTGTGTCTGCCGAGCTCGGCGGCTGTGCCTTGGTGAGTGGAGGAGCGGCGCGGGGAGGCAGAGGCGAGCGCGGGCGATCGCGGCGGCGGGACGTCTCCGGCGGCCGCGGCACCAGCGGCGGCGCTCTGTGTGGAGAAGCAGGGGCAGCGGCAGCAGCAACAGCGGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGGCCGCCTCTCCGCCGCCGGGGACGCCAAGGTGCGGCTGGTGGCACTGACATCGGCGGCCCTGCCTCTCCTCCCTCGCCCCCGGCCTTCCCCATGTGATCGGTCTTAATCCTGGCCGTGTGTGCGCGCGTGGGGCTCCATTCCGCGGTGCTGGGTCTCCGTGCCGGGGTGGGTGCTCGTGTGTGCGCTTCTCCTCCCCATCCCCCTTCCCCCAAGAATAAAAGAAGAACCGGGAGGCGTGCTCAGAAAATAAATAAATAACCACCACACACGCGCAGCCCGGAGCGAGTCGGCGGGGCTGGCGGCAGCGGCGGAGGAGGAGTGAAGGCGGCGGCGGCGGAGGAGGGACGCGCGGAAAAGGCAGCAACTTTAAAGCCAGCTCAGAGCCTAGACCTCCAGCCGAGCGGTTTGCAGCGCGGCGGCGGCGGCGGCGGCGGCGGCGTTGAGTGTCTGGCCCGCCG)GTCCGGTCGGGGTGTGCAGTCGGACGGACGAGCAGCGCGTCGCTGTCCTCCGGCAGCTGGAGATGTCCGAGCCCAAGGCAATTGATCCCAAGTTGTCGACGACCGACAGGGTGGTGAAAG|CCAAGGGAAATGAAAAGCATCTTATTTCAGGCAAAAAGGCCTGTGAATGATTAACTCTGGTTCCATGCGTTGGGACTTTGCATAGCAACCCCGTGGCTTGCAACGACAAAAAAGCTCAAGGCAGGAACAGCAGCC(CAGGGACCTGAGACCAGCGTTCTCAAATGAAG___CCAGATCTGCTGTTAGAGGAGAATTCTTCTGTCCTAGCTGTGTCTCTGTGATCTGTGGATGAGGGTGGGAAAGCACCACTCAGTCAATTGGGGTGTACAAAATGGAGTTTGAGAAG___GTCTCACATCCAGGTTGTTTTGAAGCAAAGTCCAAGCATTGTATCACTTCATCTGCAAATATTTCAATAAGTACCCAAAAG___ACTTCCTAGGATAGAGCTTGGAAAGGTTGGAAAAGTAAGGATGATTGAACTTGAAAGGTGTGAATGAAAGAAGAATTATCTTTTGGGATGGAGAATAGTAGCTGTTTTCAAAGAAGATTTTATTTTATCTTTCATTTTTGGCCTATAAGTTTTGCAGAGAATCTGTGATTAGAGTATTTAGTAAAGTACTATGTAATTATTGTTCTGTTATTTGGACACATGTTTAAACTAGAATTTTGAAGATAGCAATTAGCAATAATTATGTATGTTCTAGCCACTTTATTCATTCTACCTCTTTTACCATATACTTTAAAGATATCTATATGGTAAAAGGTAAGTGGCAACTGAATAATCACAAATACATCAACAAGTAAAGAGATGCTTTGTTTTATTGAGTGCATTCTTATATTTTCTCTTTTGCTGGAATAATAAGTGGGGTTTTAAACTGATCTGTTCTAACATTGTTTTTCCTCATTTTCTCTCTCTTTAGAGGGTTTCAGCAGGTTTTCATACATTCTCAGTTAGAAGCTGTTATAATTTTTAAAATAATACTCTAGTTCTAGTTATTCTATCACGAGCTGATTCTATTTATACAACAAATAAATACTAATTAAAACTACTCTATAACCTTGAACTGTACATTAGGGAAGTTATACCTATGGTGGATGACTGAAAAGAGAGTCCAGGATAAACTGATACATCTAATTGCACATAGTAGCCTTCGAATCAAGACTCTCAAATAGTAAAATGCACTAAGCCAATATGGATGGGAATAGCCTCCTGCTGTTTTCCCAACTATTTGAATTTTTAATATCTTCTCTTATAGCTATATACTTTTGGTTCATTTATGCTAGCGGTGTTATCAGTGAATGTATTTTTAGATTCTGTATTCCATATTTTAGATTCTGTATTCCATATTTAATGAAATTTTATTTATAGGAAAGAAAGAA)$ MSEPKAIDPKLSTTDRVVK|akgnekhlisgkkace* 11BR030 ENSG00000172667.11 ENSG00000154310.17 -/- -/- chr3:179022805 chr3:171253453 3'UTR intron deletion 58 19 0 95 48 medium stop-codon . Zinc-finger_double-stranded_RNA-binding(100%),Zinc-finger_of_C2H2_type(100%)|CNH_domain(100%),Protein_kinase_domain(100%) . . ENSG00000172667.11 ENSG00000154310.17 ENST00000311417.7 . upstream downstream duplicates(9),mismappers(1),mismatches(3) ^(AGTCACTTCCTGCAGCTGTTTCCCTGTGGGTCGGGTTGGACTGACTTTTGACAGTCAGCCTTCGGCTGCGGAGGGGGCTCGGCGGCGGCCGGCGGAGAAAGTTGCTCCGAGAAGAGGCTGGGTCGAGCTGGGCCGAGCCGGGCGCGCAGGGCGGGCGTCGCGGGCGTCCCGGGCGGACGCGGCGCGGAGACTGCCGGCGCGTCCCGGGGGTTCCG___ATTTGAAGACCTTGCTTCTCATCACCCACTGGATTATGCCCCAGGCTTCCCTACCCAATGATCCTCTTGCAACACGCCGTGCTTCCTCCACCTAAGCAGCCCTCACCCTCGCCTCCTATGTCAGTGGCCACCAGGTCTACAGGAACCTTGCAGCTTCCACCACAGAAGCCTTTTGGGCAGGAGGCTTCCTTGCCTCTTGCAGGGGAAGAAGAGTTATCGAAGGGAGGGGAGCAAGACTGTGCCCTGGAGGAGCTATGTAAGCCCCTGTACTGCAAACTCTGCAATGTCACCTTGAACTCTGCACAGCAAGCCCAGGCTCATTATCAG___GGTAAAAATCATGGTAAGAAACTCCGAAATTACTATGCAGCAAATAGCTGTCCTCCTCCTGCTAGAATGAGCAATGTGGTCGAGCCTGCAGCTACTCCAGTTGTTCCAGTCCCTCCGCAG___ATGGGCTCCTTTAAGCCAGGAGGCCGAGTGATCCTGGCCACGGAGAATGATTACTGTAAGCTCTGTGATGCCTCCTTCAGTTCCCCAGCTGTGGCTCAGGCTCACTATCAAGGGAAGAATCATGCCAAGAGGCTGCGGCTGGCGGAAGCTCAGAGTAACTCATTCTC___GGAATCCTCAGAGCTGGGTCAACGGCGGGCCAGGAAAGAAGGGAATGAGTTTAAGATGATGCCTAACAGGAGAAATATGTATACAGTACAGAATAATTCAG___CAGGTCCTTACTTCAATCCCCGCTCTCGGCAGAGAATTCCACGTGATCTGGCCATGTGTGTTACTCCAAGTGGCCAGTTTTACTGCTCAATGTGTAATGTTGGAGCTGGCGAAGAGATGGAATTCCGGCAGCATTTAGAGAGCAAGCAACATAAGAGCAAGGTGTCTGAACAGCGGTACAGGAATGAGATGGAGAATCTGGGATATGTATAGTGATTATCATATTAAGATAGAGCAGCTTTTCCTGCCTGTTGTTTGCCTTTTGTCAACTTGCCCTGCTTTGTGGTCTTTTTGATATGAGTACATTCCTCTGCTTAATGTTAATACATGTAACCCACAGTGGTACCATGAGATGTCAAAACCTGGGGGCCCGGGGGCGGGGCGGGGGGAGGTGGGTGTGAAGAACGTGCTTCTTAGGTCATAACGCTTTTGCAGGGTCAATGGTGTTGAGCCGCTCATAGCATGTGACCTACCTACCCCATCAGAAATAACTTTTTATCTTGCTCAAGTTCTGGTCAACTAGTAGCCTGACGGCTTAGAACTTTGACTATTTAAAAGTTTCATTTTCTTTTGCAATTTTAGTTTTATGTACTGTTAAAGAATTGTACTGAATTCTTTTTAGATCACAGTAAAAATAGGTTGGCAGAGATTTCAGTTTCCCAGGGCTTAACCAGAACCGCCACCTCAATGCATTGTCAGTAGAATACATTATTAGAAACTGTTAAGGTCTTTCCCGGGACATTTTTTTCTGCCATTTTCTTTTGCAATTGTAGTTTTATGTACTGTTAAAGAATTGTATTGAATTCTTTTTAGATCAAAGTAAAAATAGGTCAGCAGAGATTTCAGTTTCCCAGGGCTTAACCAGAACCGCCACCTCAATGCATTGTCAGTAGGATACATTATTAGAAACTGTTAGGGTCTTTCCCAGGACATTTTTTTTTCTGTATCATGTCTCCCCATCATTGAAGCGCAAATTTTCTTGAATTCAAATACTCCCAATGAGCTTGTATACTTCCAAACAGCTAAACTTGATTTCCAGTTGTGGATTTCACACATATAATTGCCGCCTTCTTCCCTCCTCTTTTTTCCCCCCTAGTTGAATCAGCTTGTCTAACAAGCCCATTTTCATGCCCCAGCTGTGCTGTGGGTTTTCCAAGCCTCATATTTGAATATTCAATGAGTTTAAGATGGATATGATTTCAAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGGCGGATCACGAGGTCAGGAGGTCGAGATCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAACATTAGCCGGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAGATATATTTTCCAGCAGTTTTTAGGAAACAAAGGTGTGTTTGATTTTCCAATTTAGAGTTACTTCATTGATAGTAACATGCGCTTATATCATGATCTAAACCATAAGTTCAGATTGCTTGATATTTTGTTTTGCCAGACTTTTTTGATAATCTGATTCTTACGGTTTACTTACATTTTCCTCTGTCTTGCCAGTCTGGTGGCCATCCTGAAAAATATCACCACCTGCTGTTTTATACACAGAGGAATTTTTTAAAAAGCAAATAAAGTTTCACTATCTTCGTTTCCAGTAGAAATATACACGAACTATGGTTTTATTCTTTGTAATTCGGCTTTCTTGAAGATACTAACAAGTATATGATAGATCACTTTGGCATCTGATAATTATATCAGTATTATTATTTTTGTTTTTTTGCGTTTAAAATAAGAAGTTGTATGAACCCAGGAGGTGGAGGTTGCAGTCAGCCAAGAATCGTGCCACTGCACTCCAGTCTGGGCGACAGAGCAATACTCCGTCTCCAAAAAAAAAAAAAAAGAAGCTATAATATATATCTAGATTAACTAATGGAGTGCTCTGTGAATATTCATTAACTACATTT)TATCTATTTACTATATTTTATATGGGTAAGACCAGTGGTCATCCGTATTTCTTTTGAAAGCCCACTTGATCAGGAAGTTTATATTTTAAGCAGTATGTTTGCACAATGGTCAGTTCACATTTGATTGCTTGTATTACTAATTAGAGGTAAAACTTCTATTTTTTCTTGATAATTCTGTAGGCAAAAAAAATTGGGGAAGGCAAATTACAATCATTCTTCTTCTGTAATACTTTGGGACAATTTTTAAACAACTCAGACCCATGTTTAAAAACGAGTTTTGTGTGATTAACCCTTG|CTTTTAGCTGGATTTATCAGACAACCATATGTGAGAGTGAAAGAATTAAGCCAGAGTGAGGGGTGCCTGAAATCAGAGACCTTTCGCACCTCACTGAGGCTGCAAGAGGGACAGCTTTGAAGTCATGGTTTAATATTCCCAGATACTTTAGTTATTTCTTTTTTTTTTTTTTGAGACAGTCTTGCTTTGTTGCCCAGGCTGGAGTGC . 11BR030 ENSG00000172667.11 ENSG00000154310.17 -/- -/- chr3:179025068 chr3:171228221 CDS/splice-site CDS/splice-site deletion 6 0 0 123 18 medium in-frame . Zinc-finger_double-stranded_RNA-binding(100%),Zinc-finger_of_C2H2_type(100%)|CNH_domain(100%),Protein_kinase_domain(100%) . . ENSG00000172667.11 ENSG00000154310.17 ENST00000652290.1 ENST00000436636.7 upstream downstream mismatches(1) ^(CTCCACCGCCTCCCGGTTCCGCAGTCACTTCCTGCAGCTGTTTCCCTGTGGGTCGGGTTGGACTGACTTTTGACAGTCAGCCTTCGGCTGCGGAGGGGGCTCGGCGGCGGCCGGCGGAGAAAGTTGCTCCGAGAAGAGGCTGGGTCGAGCTGGGCCGAGCCGGGCGCGCAGGGCGGGCGTCGCGGGCGTCCCGGGCGGACGCGGCGCGGAGACTGCCGGCGCGTCCCGGGGGTTCCG___ATTTGAAGACCTTGCTTCTCATCACCCACTGGATTATGCCCCAGGCTTCCCTACCCAATGATCCTCTTGCAACACGCCGTGCTTCCTCCACCTAAGCAGCCCTCACCCTCGCCTCCTATGTCAGTGGCCACCAGGTCTACAGGAACCTTGCAGCTTCCACCACAGAAGCCTTTTGGGCAGGAGGCTTCCTTGCCTCTTGCAGGGGAAGAAGAGTTATCGAAGGGAGGGGAGCAAGACTGTGCCCTGGAGGAGCTATGTAAGCCCCTGTACTGCAAACTCTGCAATGTCACCTTGAACTCTGCACAGCAAGCCCAGGCTCATTATCAG___GGTAAAAATCATGGTAAGAAACTCCGAAATTACTATGCAGCAAATAGCTGTCCTCCTCCTGCTAGAATGAGCAATGTGGTCGAGCCTGCAGCTACTCCAGTTGTTCCAGTCCCTCCGCAG___ATGGGCTCCTTTAAGCCAGGAGGCCGAGTGATCCTGGCCACGGAGAATGATTACTGTAAGCTCTGTGATGCCTCCTTCAGTTCCCCAGCTGTGGCTCAGGCTCACTATCAAGGGAAGAATCATGCCAAGAGGCTGCGGCTGGCGGAAGCTCAGAGTAACTCATTCTC___GGAATCCTCAGAGCTGGGTCAACGGCGGGCCAGGAAAGAAGGGAATGAGTTTAAGATGATGCCTAACAGGAGAAATATGTATACAGTACAGAATAATTCAG___GTCCTTACTTCAATCCCCGCT)CTCGGCAGAGAATTCCACGTGATCTGGCCATGTGTGTTACTCCAAGTGGCCAGTTTTACTGCTCAATGTGTAATGTTGGAGCTGGCGAAGAGATGGAATTCCGGCAGCATTTAGAGAGCAAGCAACATAAGAGCAAG|GGTCGTCATGTCAAAACGGGCCAGCTTGCAGCCATCAAGGTTATGGATGTCACAGGG(___GATGAAGAGGAAGAAATCAAACAAGAAATTAACATGTTGAAGAAATATTCTCATCACCGGAATATTGCTACATACTATGGTGCTTTTATCAAAAAGAACCCACCAGGCATGGATGACCAACTTTGG___TTGGTGATGGAGTTTTGTGGTGCTGGCTCTGTCACCGACCTGATCAAGAACACAAAAGGTAACACGTTGAAAGAGGAGTGGATTGCATACATCTGCAGGGAAATCTTACGG___GGGCTGAGTCACCTGCACCAGCATAAAGTGATTCATCGAGATATTAAAGGGCAAAATGTCTTGCTGACTGAAAATGCAGAAGTTAAACTAG___TGGACTTTGGAGTCAGTGCTCAGCTTGATCGAACAGTGGGCAGGAGGAATACTTTCATTGGAACTCCCTACTGGATGGCACCAGAAGTTATTGCCTGTGATGAAAACCCAGATGCCACATATGATTTCAAG___AGTGACTTGTGGTCTTTGGGTATCACCGCCATTGAAATGGCAGAAGGTGCTCCCC___CTCTCTGTGACATGCACCCCATGAGAGCTCTCTTCCTCATCCCCCGGAACCCAGCGCCTCGGCTGAAGTCTAAGAAGTG___GTCAAAAAAATTCCAGTCATTTATTGAGAGCTGCTTGGTAAAGAATCACAGCCAGCGACCAGCAACAGAACAATTGATGAAGCATCCATTTATACGAGACCAACCTAATGAGCGACAGGTCCGCATTCAACTCAAGGACCATATTGATAGAACAAAGAAGAAGCGAGGAGAAAAAG___ATGAGACAGAGTATGAGTACAGTGGAAGTGAGGAAGAAGAGGAGGAGAATGACTCAGGAGAGCCCAG___CTCCATCCTGAATCTGCCAGGGGAGTCGACGCTGCGGAGGGACTTTCTGAGGCTGCAGCTGGCCAACAAGGAGCGTTCTGAGGCCCTACGGAGGCAGCAGCTGGAGCAGCAGCAGCGGGAGAATGAGGAGCACAAGCGGCAGCTGCTGGCCGAGCGTCAGAAGCGCATCGAGGAGCAGAAAGAGCAGAGGCGGCGGCTGGAGGAG___CAACAAAGGCGAGAGAAGGAGCTGCGGAAGCAGCAGGAGAGGGAGCAGCGCCGGCACTATGAGGAGCAGATGCGCCGGGAGGAGGAGAGGAGGCGTGCGGAGCATGAACAG___GAATACATCAGGCGACAGTTAGAGGAGGAGCAGAGACAGTTAGAGATCTTGCAGCAGCAGCTACTGCATGAACAAGCTCTACTTCTG___GAATATAAGCGCAAACAATTGGAAGAACAGAGACAAGCAGAAAGACTGCAGAGGCAGCTAAAGCAAGAAAGAGACTACTTAGTTTCCCTTCAGCATCAGCGGCAGGAGCAGAGGCCTGTGGAGAAGAAGCCACTGTACCATTACAAAGAAGGAATGAGTCCTAGTGAGAAGCCAGCATGGGCCAAGGAG___GTAGAAGAACGGTCAAGGCTCAACCGGCAAAGTTCCCCTGCCATGCCTCACAAGGTTGCCAACAGGATATCTGACCCCAACCTGCCCCCAAGGTCGGAGTCCTTCAGCATTAGTGGAGTTCAGCCTGCTCGAACACCCCCCATGCTCAGACCAGTCGATCCCCAG___ATCCCACATCTGGTAGCTGTAAAATCCCAGGGACCTGCCTTGACCGCCTCCCAGTCAGTGCACGAGCAGCCCACAAAGGGCCTCTCTGGGTTTCAGGAGGCTCTGAACGTGACCTCCCACCGCGTGGAGATGCCACGCCAGAACTCAGATCCCACCTCGGAAAATCCTCCTCTCCCCACTCGCATTGAAAAGTTTGACCGAAGCTCTTGGTTACGACAGGAAGAAGACATTCCACCAAAG___GTGCCTCAAAGAACAACTTCTATATCCCCAGCATTAGCCAGAAAGAATTCTCCTGGGAATGGTAGTGCTCTGGGACCCAGACTAGGATCTCAACCCATCAGAGCAAG___CAACCCTGATCTCCGGAGAACTGAGCCCATCTTGGAGAGCCCCTTGCAGAGGACCAGCAGTGGCAGTTCCTCCAGCTCCAGCACCCCTAGCTCCCAGCCCAGCTCCCAAGGAGGCTCCCAGCCTGGATCACAAGCAGGATCCAGTGAACGCACCAGAGTTCGAG___CCAACAGTAAGTCAGAAGGATCACCTGTGCTCCCCCATGAGCCTGCGAAGGTGAAACCAGAAGAATCCAGGGACATTACCCGGCCCAGTCGACCAGCT___AGCTACAAAAAAGCTATAGATGAG___GATCTGACGGCATTAGCCAAAGAACTAAGAGAACTCCGGATTGAAGAAACAAACCGCCCAATGAAGAAGGTGACTGATTACTCCTCCTCCAGTGAGGAGTCAGAAAGTAGCGAGGAAGAGGAGGAAGATGGAGAGAGCGAGACCCATGATGGGACAGTGGCTGTCAGCGACATACCCAGACTGAT___ACCAACAGGAGCTCCAGGCAGCAACGAGCAGTACAATGTGGGAATGGTGGGGACGCATGGGCTGGAGACCTCTCATGCGGACAGTTTCAGCGGCAGTATTTCAAGAGAAGGAACCTTGATGATTAGAGAG___ACGTCTGGAGAGAAGAAGCGATCTGGCCACAGTGACAGCAATGGCTTTGCTGGCCACATCAACCTCCCTGACCTGGTGCAGCAGAGCCATTCTCCAGCTGGAACCCCGACTGAGGGACTGGGGCGCGTCTCAACCCATTCCCAGGAGATGGACTCTGGGACTGAA___TATGGCATGGGGAGCAGCACCAAAGCCTCCTTCACCCCCTTTGTGGACCCCAGAGTATACCAGACGTCTCCCACTGATGAAGATGAAGAGGATGAGGAATCATCAGCCGCAG___CTCTGTTTACTAGCGAACTTCTTAGGCAAGAACAGGCCAAACTCAATGAAGCAAGAAAGATTTCGGTGGTAAATGTAAACCCAACCAACATTCGGCCTCATAGCGACACACCAGAAATCAGAAAATACAAGAAACGATTCAACTCAGAAATACTTTGTGCAGCTCTGTGGG___GTGTAAACCTTCTGGTGGGGACTGAAAATGGCCTGATGCTTTTGGACCGAAGTGGGCAAGGCAAAGTCTATAATCTGATCAACCGGAGGCGATTTCAGCAGATGGATGTGCTAGAGGGACTGAATGTCCTTGTGACAATTTCAG___GAAAGAAGAATAAGCTACGAGTTTACTATCTTTCATGGTTAAGAAACAGAATACTACATAATGACCCAGAAGTAGAAAAGAAACAAGGCTGGATCACTGTTGGGGACTTGGAAGGCTGTATACATTATAAAGTTG___TTAAATATGAAAGGATCAAATTTTTGGTGATTGCCTTAAAGAATGCTGTGGAAATATATGCTTGGGCTCCTAAACCGTATCATAAATTCATGGCATTTAAG___TCTTTTGCAGATCTCCAGCACAAGCCTCTGCTAGTTGATCTCACGGTAGAAGAAGGTCAAAGATTAAAGGTTATTTTTGGTTCACACACTGGTTTCCATGTAATTGATGTTGATTCAGGAAACTCTTATGATATCTACATACCATCTCAT___ATTCAGGGCAATATCACTCCTCATGCTATTGTCATCTTGCCTAAAACAGATGGAATGGAAATGCTTGTTTGCTATGAGGATGAGGGGGTGTATGTAAACACCTATGGCCGGATAACTAAGGATGTGGTGCTCCAATGGGGAGAAATGCCCACGTCTGTGG___CCTACATTCATTCCAATCAGATAATGGGCTGGGGCGAGAAAGCTATTGAGATCCGGTCAGTGGAAACAGGACATTTGGATGGAGTATTTATGCATAAGCGAGCTCAAAGGTTAAAGTTTCTATGTGAAAGAAATGATAAG___GTATTTTTTGCATCCGTGCGATCTGGAGGAAGTAGCCAAGTGTTTTTCATGACCCTCAACAGAAATTCCATGATGAACTGGTAACAGAAGAGCACTTGGCACTTATCTTCATGGCGTTATTTCTAATTTAAAAGAACATAACTCATGTGGACTTATGCCAGTCTAGAGGCAGAATCAGAAGGCTTGGTTGAACATATCGCTTTCCCTTTTTCCTCTCCCTCCGCCCCTCCCAGTACAGTCCATCTTTCAATGTTGCAGCCTGGTTGAGAAGGAGAGAAAAAGGTGGCAGGAATTTCCAGGAGATCCCCAAGAATGCTGCCTTGTCTGTGGACAAAGATGGACCATGTGCCCTTCGGAATTAGGGATAGAAACAAATATTGTGTGCTCTTAACGATTAAGCTGTGTTATGGTGGGTTTTCAGGTTTTTACCTTTTTTCTTTACCCCTTTACTCTGCAAGAATGGGGAAAGAATGCATACTGCGAAAATGAGTCTTTTAAATTCTGTCTGCCTACTAGTTTTAAGTATATGGTATGTTGTAAAATTTCCAATGATGAGAGACAGCACAATAAATGTACCTTATCTCCTTAGGCTGAAGGCCATAACTACATAGTGGAGTAATTTAAGAACTCTCTTGCCTTCACCAACCCAAAAGGTTGCTTTTTGATAGCAACTGGCTAATGAATTTTTAAAAAGAGAAGAAAAATACTAGTTTTCCCCTCTTTTGGGAAATAGATTTTAAATGGCTAAACTACTAGCCTTAAAACTACTAGTCTAATAAAATCAACTACCACTTTTGTGAATCTGACAGGCCACATTTTTATATGGCCCTTTACAGAATGGAGTGTGTTGAACAGGATACTAACGCCATTGAGTTGAGCTGGCCTAGCGATGGAGGGACACTCTAACACAACTTTCCCTCAGCTATTATGCAACAGATCAGGGAAAAAGATGGGATGACAGATGGGGTCAGACAGAAAGAGCTTCTGGGAAACAAGCTTACATAGTCTTTTTTAAAATGCACAAAGCCTCCCAGCTAAGAGGTCACTTGGTTTGGGCTTCATTAGGACTGAGACTTTGTTGAGTTCTTTCTGGGACTTGGAGAGTGGATGATATTCAGGCTCTGAACATTCCCAGCGCTCTCCCGAGGGTGCCACTTTCTCAAGATGAAAACTGTGACTGAAAAAATTAATAATAAATGTTTCTGAGCTGCCTGTGTTCTCCCTGTGTGGGTGAGAGAAGGGACTAGACTCCTAAGCCTGCCTCAGATACAAGAGGCATCATTGGCTCCAATTTTAGAGAACTTGAAAGCAAGGCTTTGGACAAAATTTTGAGACCCTAATCACTTTACCTTCCTCCAAATTACCCAACATACGGTAAACAACATTTGTGCAGAAGTATGTATGTATTTAGTTCAGGTTGACTTGTGTCCTTATAAACTCTTACTCAAATGATTTGAACTTTTATGCGACTGGGATTTTTTTTTTCCAAAGCTACAAGCATGGCCGCCTGTGGTATCGAGGTGTTGCAAACAATATCTGTGTTGCGCTTCCTGTTTTAACCTACCTCGTTTTGTTTGTTTTTGTTTCACTGTTCATCACAGCAGTGTTATCTCCAGGAGACATATAGAGAGCTCAACCGGCAATCTCAGGTGCATTTAACATTTTTAAAACGAAACAGTAGTTGACCAAATTTTTCTTCTTAAAAAATTGGAAGTGGGGGGAATCCAATGACAAAAACTAATGTGGCTTGTTTCTGGAGAAAATAATTACTGTAAATGGAACAACAACAACAAAAAAAACTACGATCTTACTGACTTTGCCTAAATACACAAGCAGCTGATGTACTATTAATGAGAACGAAATACACATTAGGAAAATGGAGCCATTTCAATCTAGTGGTTTGGGCAAGATGGGGAAGAGAAGGGGAAACATTCTAGTTTCTGGATTACATTATTATGCCCCTCCTGAAAAGGTGGTTGTCATTTGCATTTATTTAAAGCAGGTAATATGCAGGAATGTAACTGAGGATTATCTTCAGGCAATCAGCAAGATATCCTCCTCATGGTCCCTTTAGCTCTCAAAAGCAATGAAATCCTCCTGTTCTCATTTTTACTGCTGTGGTTGTGCTGCTGAACAATACTATCTTCTCAAATTCCATGCCACAAATTCAGCAATAACTTTTTGGATTGAATTTAACAACTACTGTAATTGGATGCTGATGTGGACAAAATATATTGATTTCGATTTCACTCCCGAATGTGATTGCCACCAGCTCTTTATATTGCTGCTGTGGTATTTTAAACCAGAAGCTTCTTTAAATTATGTTGCAAACTGATCTTTGTTTTTATGTTTTGTTTTGTTTTTATTTCTAAGTGATAAGTTTGAAACACACAGCTTTAAATGATTTTTTTATTGTGGGATTTTGGGTACAGTTAAGAAATAAAAGGGAATCATTGTGTTTAAACATAAGGTAGTTTGTGAATGTATTTTTTAAAATCTAGAGTCATTGAAACAAATCATAAGAAAACAATATTAATGCAGTCTTGTTTACAGTATGTACAGTGACATAACATAGAACATGAGCTTTTCTGGTGCCAACAACAATAAAACACACGTTAAACATCAAGCCATGCCTTTTATATTTTTGTACTAATATTTTACACTGAGTACAAGGCAAATCCAAATTTAAATGGGCCCCCCAGAAATCTGTGCTCTTTAAAAGACAGATATTTAAAGAATTCACTGAAGCTTTTATCTTCAAAAATAAATTTTCCTCCAGCAAGACAGACCCCAGCCCTGACATAAGGAGGCCTAGAACATGCAGAATACGTCAGAATGGTGTCCTTGTGGCTCATCCAAACTTTCTGAATTGCCTTAATTCTTTTTGGGGGTAGGGGAGGAACGGTTGCTTTTCATCCATTTTTATAGCATCTCAACAAAAAAAATCTTCAGTTCTGATCTTTTTATAGGTGATTTTGTCTCTAGAAATTGGCTCATTTTATTTTTATTTTCCTACAAAGAGAAACTGGAGAAACTGAGCCCTCCCCTCAGAGTAAGTTTCACTAGATCTGCCAGTTCTTACTGCTCTAAATTAATAATCATCCAGTAAAATCTACTGAGCCTGCCCACACCATAGTCTGGGTCTGGGGTCTGGCAGGTGACCATCATTCCTGGGTGCCAGTCAAAGATACTGTAGCATGGATTCCTGCATCCAGTGGTGGTAGGAATGGATGACCAGTGAAGTTCCTTCAAATAATGAGGCTCTTCCCCCTGCCAGTTCCAGCCAGACCACTGTCATAACACACAATGCAAATGAAGACAGCCTTCACTAAGTTCCACATAAAATTGAACAGCTCTATTTTAGATAGATCTCATTATTTTTCTTGGAGACTTCTAAACAATCCTTCAAGAAGACCTAGAACTATTATTTTTATTAAACAGGGTATATTAAGTTATGGGTGAAATCTCACAAGGTCACCTGGACAGGGGCTCCATTTTTCTAACACTTTGACATTGTTTTCTAGGGTGCACTCCTAATATACTTTGCATCAAGTACATGTTTTTTAAAAACACCTTAGTTCCTGGTTGTCAAAACCTACTAACAATTTTTGTCTGTTCTTGTGACTCATTGGTAATTGGTGTCTCTGGTCCCTCCTGTCCAGTAGATTATTAGAAAGATGTGAAATTCCAGCCAGAACCATTTTGGTTTTATCCACTGCCAGGAAAGGAAGGGGCTAAAGTCTCACATTCCACGAAGCTTTTAAAAAAATGCTTTCCCTACTACTATGTGTACCAGTTCCCGTCACTGTATTCTTGAAACGTGGAAGAGCTCTTTGTGTTAACAGTGTGTGCTGTCTTTGAAAGTCTGCTTGAACAGGCATCACTTGCATTTGTGCTGATTGCTTTAAGATGTAAGATGTGCTACATTATTTTTAAGAAAAAAAATAGTTATTGATAAAACTTTTAATTTTAACCTACTGCAGGAAAACATGAGAAAATCCACAGCATGCTGATAACAATTCTGAATGATGCTACTATGCTCTTTATATTCCAGAATCACCACTGGTACCATGTTCTGATCATTTCAACAGTCTCTAACTTGTTAGTTACCTTTTAGTTCATTCTTCAAAATTTAAATCTAACCAAATCAAGCAAAACATAACCAACCAACCAAAAACTGACCTCCCCTGAGACTACATAGTTGTAACATAAATCTAAAATCCAAAAGTCTAAATTTGATTTAATTTACCTGCTAATATTTCTCATAAATGCCACTATATCTCCTTGGTCACTATATATCAGGAACCCTAAAGTAAGCTGTCCTTTCATGGATCTTAAATAAATTGGGTGTAAAATTGATCACTTTTCAGGAGTCCCAGCAAAGAAGAAAACCTCTTGAGAATTTGCAAGTTCAAAACTGACAATTTGTATATTCCTACCAAACATTTTCTAGGTTGTTTTTATTTCTACACCATTATTCTGGGAATTCTTCCATTGATAACTAGAATATTCAACAGTTTGCTTAGCATTAAACAGTGTGAGATCATAACCCTGTGCTTTGGACTTTATTCTTCTAGACCTGCCATTCCAGGAAGTGCCAGAATATACCAAAATAAAAATCCCCATAAAAGCATTTTTAAACAAAAATCCCTGGGTAATGTTTGAGTTATTTTAAATCTAGATCAAAATCTTGGATTCTTCTGAGTCCATGATGACAAATGTTTGGATGAAAAGTAGAAAATACAGTTAAAAATAAAAATGTCCTAAAGTTTACAGATTTTTGAGTTTGTGTACATATCTTCAAACTCACTCCTTGCATGATAGGGTTTGGTTTTAATGGTTTATTTTTATCAGCACCAAGTTGCATTGCACTATTGAGGCTGAGCAAATGCTGGTGGAAAGGTGAGTTTTCATTTCTGGCAATGGATCATTATTTGTACACTGTAAATATCATGCCCAGCTACCCCTTTCCCTTATCTCTTCCCCTGGGATAAATGTTAAGGAATAGTAATACTTATTATGGTATGTTTAAGAAACCTTGGACATTACCCTGAATCAAAACTTCAAATGTTAGGTGGCAGCAGGAAACAAAAGATTACAGCTTGAATGAAATTTTAAAATTGAATGTTGTAAAACTATTTTTGAACGTTTTAGCTGCCTTATTTATGTTAATATAACTGTAGAGAGATGCCAAATGTATAATATCAGAAGGGAAAACTACGATTTTGCTGTGCCTACAATTGTTTACATTTTTTAAATCTCCAGTTTTCAAAAGTATTTTAAATTGTCAAACATTTGCTAAAACTGGATTATAACCTCACCTGAGAATGAGAGAAGAAAATCTTCCTGGCATATTTTCCAGTCTGAAACTTTTGGTTACTTTCAGGTATTTTTTTTCTTGCATACAAAAATCATTGAGAAAGTACTTTCTACAGTTATTCTAAGCAGTCATTAAAAATGCTTTGATAGGTTTCCCCACATGGTAACTACCATGTCCTGGAATATAATATGCTATCTTTGTCAAAATATGAATAATAAAACATTAATCGTA)$ MILLQHAVLPPPKQPSPSPPMSVATRSTGTLQLPPQKPFGQEASLPLAGEEELSKGGEQDCALEELCKPLYCKLCNVTLNSAQQAQAHYQGKNHGKKLRNYYAANSCPPPARMSNVVEPAATPVVPVPPQMGSFKPGGRVILATENDYCKLCDASFSSPAVAQAHYQGKNHAKRLRLAEAQSNSFSESSELGQRRARKEGNEFKMMPNRRNMYTVQNNSGPYFNPRSRQRIPRDLAMCVTPSGQFYCSMCNVGAGEEMEFRQHLESKQHKSK|GRHVKTGQLAAIKVMDVTGDEEEEIKQEINMLKKYSHHRNIATYYGAFIKKNPPGMDDQLWLVMEFCGAGSVTDLIKNTKGNTLKEEWIAYICREILRGLSHLHQHKVIHRDIKGQNVLLTENAEVKLVDFGVSAQLDRTVGRRNTFIGTPYWMAPEVIACDENPDATYDFKSDLWSLGITAIEMAEGAPPLCDMHPMRALFLIPRNPAPRLKSKKWSKKFQSFIESCLVKNHSQRPATEQLMKHPFIRDQPNERQVRIQLKDHIDRTKKKRGEKDETEYEYSGSEEEEEENDSGEPSSILNLPGESTLRRDFLRLQLANKERSEALRRQQLEQQQRENEEHKRQLLAERQKRIEEQKEQRRRLEEQQRREKELRKQQEREQRRHYEEQMRREEERRRAEHEQEYIRRQLEEEQRQLEILQQQLLHEQALLLEYKRKQLEEQRQAERLQRQLKQERDYLVSLQHQRQEQRPVEKKPLYHYKEGMSPSEKPAWAKEVEERSRLNRQSSPAMPHKVANRISDPNLPPRSESFSISGVQPARTPPMLRPVDPQIPHLVAVKSQGPALTASQSVHEQPTKGLSGFQEALNVTSHRVEMPRQNSDPTSENPPLPTRIEKFDRSSWLRQEEDIPPKVPQRTTSISPALARKNSPGNGSALGPRLGSQPIRASNPDLRRTEPILESPLQRTSSGSSSSSSTPSSQPSSQGGSQPGSQAGSSERTRVRANSKSEGSPVLPHEPAKVKPEESRDITRPSRPASYKKAIDEDLTALAKELRELRIEETNRPMKKVTDYSSSSEESESSEEEEEDGESETHDGTVAVSDIPRLIPTGAPGSNEQYNVGMVGTHGLETSHADSFSGSISREGTLMIRETSGEKKRSGHSDSNGFAGHINLPDLVQQSHSPAGTPTEGLGRVSTHSQEMDSGTEYGMGSSTKASFTPFVDPRVYQTSPTDEDEEDEESSAAALFTSELLRQEQAKLNEARKISVVNVNPTNIRPHSDTPEIRKYKKRFNSEILCAALWGVNLLVGTENGLMLLDRSGQGKVYNLINRRRFQQMDVLEGLNVLVTISGKKNKLRVYYLSWLRNRILHNDPEVEKKQGWITVGDLEGCIHYKVVKYERIKFLVIALKNAVEIYAWAPKPYHKFMAFKSFADLQHKPLLVDLTVEEGQRLKVIFGSHTGFHVIDVDSGNSYDIYIPSHIQGNITPHAIVILPKTDGMEMLVCYEDEGVYVNTYGRITKDVVLQWGEMPTSVAYIHSNQIMGWGEKAIEIRSVETGHLDGVFMHKRAQRLKFLCERNDKVFFASVRSGGSSQVFFMTLNRNSMMNW* 11BR030 ENSG00000141367.12 ENSG00000141367.12 +/+ +/- chr17:59660787 chr17:59681371 intron CDS inversion/3'-3' 13 5 0 16 2371 medium stop-codon . Clathrin-H-link(100%),Clathrin__heavy-chain_linker(100%),Clathrin_propeller_repeat(100%)| . . ENSG00000141367.12 ENSG00000141367.12 ENST00000621829.4 . downstream downstream duplicates(1) ^(AGACTGGCGAAAGTGATGAGTCTAAAAAAGTAGTCCCTCCGGTTCCTCTGTTTCCCCCCATGTGGCGTCAGGAAGCGAGGCACCGGGCGCACTGCGCCCCGAATTCCTGCGCCCGCCGCGCGCGGCGCTCCGTGGAGGGGTACATAAGGCGGAGGGGGTGAGGCGACTGGGCGGAGTTCTGTCGCCGGGATCCTTCCGCTGGGCTCAGCCGTTTCCGGAGTCTGCGCTGCGCCCGGTTCCGCCATTGCGGCTCTCCTGGCCCCTGGAGCCTCCGCCCCCGACCCGAGCTCTTTCGTCTGCCTGCCAGTTTCCTGCGTCCCCGGAGAGGATCCTGCTGAGCCCAGCCTCCCCCCTCCCCTTCTCCTCCTCTCCCTTGGAGAGCCCGGGCAGCCACTGCCCCGCAGCCCCAGTGACAGGAGGAGACCATAACCCCCGACAGCGCCATGGCCCAGATTCTGCCAATTCGTTTTCAGGAGCATCTCCAG___CTCCAGAACCTGGGTATCAACCCAGCAAACATTGGCTTCAGTACCCTGACTATGGAGTCTGACAAATTCATCTGCATTAGAGAAAAAGTAGGAGAGCAGGCCCAGGTGGTAATCATTGATATGAATGACCCAAGTAATCCAATTCGAAGACCAATTTCAGCAGACAGCGCCATCATGAATCCAGCTAGCAAAGTAATTGCACTGAAAGGTATAAAAGAAT___CTGGGAAAACTCTTCAGATTTTTAACATTGAAATGAAAAGTAAAATGAAGGCTCATACCATGACTGATGATGTCACCTTTTGGAAATGGATCTCTTTGAATACGGTTGCTCTTGTTACGGATAATGCAGTTTATCACTGGAGTATGGAAGGAGAGTCTCAGCCAGTGAAAATGTTTGATCGCCATTCTAGCCTTGCAGGGTGCCAGATTATCAATTACCGTACAGATGCAAAACAAAAGTGGTTACTTCTGACTGGTATATCTGCACAG___CAAAATCGTGTGGTGGGAGCTATGCAGCTATATTCTGTAGATAGGAAAGTGTCTCAGCCCATTGAAGGACATGCAGCTAGCTTTGCACAGTTTAAGATGGAAGGAAATGCAGAAGAATCAACGTTATTTTGTTTTGCAGTTCGGGGCCAAGCTGGAGGGAAG___TTACATATTATTGAAGTTGGCACACCACCTACAGGGAACCAGCCCTTTCCAAAGAAGGCAGTGGATGTCTTCTTTCCTCCAGAAGCACAAAATGATTTTCCTGTTGCAATGCAG___ATCAGTGAAAAGCATGATGTGGTGTTCTTGATAACCAAGTATGGTTATATCCACCTCTATGATCTTGAGACTGGTACCTGCATCTACATGAATAGAATCAGTGGAGAAACAATTTTTGTTACTGCACCTCATGAAGCCACAGCTGGAATAATTGGAGTAAACAGAAAGGGACAA___GTTCTGTCAGTGTGTGTGGAAGAAGAAAACATAATTCCTTACATCACCAATGTTCTACAAAATCCTGATTTGGCTCTGAGAATGGCTGTACGTAATAACTTAGCCGGTGCTGAAGAA)CTCTTTGCCCGGAAATTTAATGCTCTTTTTGCCCAGGGAAATTACTCGGAGGCAGCAAAGGTGGCTGCTAATGCACCAAAGGTAAAGAGTTATGAAAATGAAGTTGTCATGACATTAATCCATTGTTAATATTCTGTTTCTTATATTACTAGAAAAGGAACCAGCTTCCTACAGATAAACTGTTTTTAGATTACATTTGGGTTACATTTTCCTTTAGTAGAATTCCTTGTCAATGCCTCTAGATTTGGTTAATTTTCTCTGGATTTGATTAGTTTTTTAA|CtAGGCGGTTAATATACTCCATAACACGTGTACGGTCAGCCTTAATTGCAGTGAGGATAAGGAGGTTTTGCAGATTCCTTTAAGAAAAAAAAGAATATTTTAAATGCAATATTTTAAGTTTATCCGACATAAAAAATAACCACTGTGACTAACGGAGAGGTTTTTGTCTgAAGAGGTAGGGTAGGGGGGAG . 11BR030 ENSG00000153283.13 ENSG00000153283.13(13155),ENSG00000240891.8(9149) +/+ ./+ chr3:111649858 chr3:111665527 3'UTR intergenic deletion/read-through 4 11 0 51 31 medium stop-codon . Immunoglobulin_V-set_domain(100%)| . . ENSG00000153283.13 . ENST00000352690.9 . downstream upstream . ^(AATTGACTTTGTGATCATTACAGAAATGCTGGTGTAAGGTGTTCAGAAGACAATGGAGAAAAAATGGAAATACTGTGCTGTCTATTACATCATCCAGATACATTTTGTCAAGG___GAGTTTGGGAAAAAACAGTCAACACAGAAGAAAATGTTTATGCTACACTTGGCTCTGATGTCAACCTGACCTGCCAAACACAGACAGTAGGCTTCTTCGTGCAGATGCAATGGTCCAAGGTCACCAATAAGATAGACCTGATTGCTGTCTATCATCCCCAATACGGCTTCTACTGTGCCTATGGGAGACCCTGTGAGTCACTTGTGACTTTCACAGAAACTCCTGAGAATGGGTCAAAATGGACTCTGCACTTAAGGAATATGTCTTGTTCAGTCAGTGGAAGGTACGAGTGTATGCTTGTTCTGTATCCAGAGGGCATTCAGACTAAAATCTACAACCTTCTCATTCAGACACACG___TTACAGCAGATGAATGGAACAGCAACCATACGATAGAAATAGAGATAAATCAGACTCTGGAAATACCATGCTTTCAAAATAGCTCCTCAAAAATTTCATCTGAGTTCACCTATGCATGGTCGGTG___GAGGATAATGGAACTCAGGAAACACTTATCTCCCAAAATCACCTCATCAGCAATTCCACATTACTTAAAGATAGAGTCAAGCTTGGTACAGACTACAGACTCCACCTCTCTCCAGTCCAAATCTTCGATGATGGGCGGAAGTTCTCTTGCCACATTAGAGTCGGTCCTAACAAAATCTTGAGGAGCTCCACCACAGTCAAGGTTTTTG___CTAAACCAGAAATCCCTGTGATTGTGGAAAATAACTCCACGGATGTCTTGGTAGAG___AGAAGATTTACCTGCTTACTAAAGAATGTATTTCCCAAAGCAAATATCACATGGTTTATAGATGGAAGTTTTCTTCATGATGAAAAAGAAG___GAATATATATTACTAATGAAGAGAGAAAAGGCAAAGATGGATTTTTGGAACTGAAGTCTGTTTTAACAAGGGTACATAGTAATAAACCAGCCCAATCAGACAACTTGACCATTTGGTGTATGGCTCTGTCTCCAGTCCCAGGAAATAAAGTGTGGAACATCTCATCAGAAAAGATCACTTTTCTCTTAG___GTTCTGAAATTTCCTCAACAGACCCTCCACTGAGTGTTACAGAATCTACCCTTGACACCCAACCTTCTCCAGCCAGCAGTGTATCTCCTGCAA___GATATCCAGCTACATCTTCAGTGACCCTTGTAGATGTGAGTGCCTTGAGGCCAAACACCACTCCTCAAC___CCAGCAATTCCAGTATGACTACCCGAGGCTTCAACTATCCCTGGACCTCCAGTGGGACAGATACCAAAAAAT___CAGTTTCACGGATACCTAGTGAAACATACAGTTCATCCCCGTCAGGTGCAGGCTCAACACTTCATG___ACAATGTCTTTACCAGCACAGCCAGAGCATTTTCAGAAGTCCCCACAACTGCCAATGGATCTACGAAAACTAATCACGTCCATATCACTG___GTATTGTGGTCAATAAGCCCAAAGATGG)AATGTCCTGGCCAGTGATTGTAGCAGCTTTACTCTTTTGCTGCATGATATTGTTTGGTCTTGGAGTGAGAAAATGGTGTCAGTACCAAAAAGAAAT___AATGGAAAGACCTCCACCTTTCAAGCCACCACCACCTCCCATCAAGTACACTTGCATTCAAGAGCCCAACGAAAGTGATCTGCCTTATCATGAGATGGAGACCCTCTAGTCTCGTGAGACTTTGCCCCATGGCAGAACTCTGCTGGAATCCTATTGAGAAG|GTATTGGCTGGGATCCACCAAAACTTCAATCAATTTTCCTTTCTTAAGGAGATAATTGGAGCCCTTTGATTTTCCCAAAACTCCAGAGCAAACTTACCCTCTCACCGTTGAACCATTTCATATCAAAGAAAACTAAGCTGTGTTTCTCCAGACTCCACCCAAGAAAGAGACTTTCATTCCTCCCTCAAACCCTTGGGCAGTGTTTTTTGTTGCTACTTTAGTAGAAACTACGGAAACAATTCACAGTTTACAGCAGTCCCTGCAGCAAGATCCCACACATGTGGC . 11BR030 ENSG00000196437.12 ENSG00000163558.13 -/- +/+ chr19:37465313 chr3:170235230 5'UTR/splice-site CDS/splice-site translocation 0 11 0 147 137 medium . . |PB1_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000196437.12 ENSG00000163558.13 ENST00000448051.7 ENST00000295797.5 upstream upstream . ^(AGAAAAGGTCGCGGCGTCGCAGTGTCTGGCAGCAGCGGTGCAGCTCCGCGCAGGGTTTGTAACACGGCCTCCTCCCCACCAGGTCCTCCCACACTGGCCTCTCCCCGGCCTTCCAGAGAGCCCGAAAGTCCGGATTCCCTGCAGCTCCGAGCCTGGCCCGGTCACAGGGACGGGGCCCAGCGTCACACTACACGGGCTGGTGTGGAAGTGCGCAGGCACAAGCGCTCTGCGCGCCTCCCTTAGCAACCAGGGCGGGGAGTTGAGAATCGCAGGTTGGCCGCAGGGAAAAG___GACGCGCAAACAGTGAAGCCAGTCCCGCCCGGGTGAGCCGCGGGGGCCTCTGGGAAGCGTCGCCCCTGGTGTAACGGACCGAGACTTGTGGCGCTCTCAGCCACCGACAGCGCCGGCCTCAGTGCCGCCTCTGTCCCAGCCCGCGCCGGCTCTGCCACTTTGGCAGCGTTAAGTGTGGAATCGGGGCCTGTGTCCGCGGGCTTGGTG___TATGAACCTGCGTGCAAACGTGCATGACAGTGGGATCTTGAATGAATGAAAAACTGTGGATACAAG___AGTTCTTCATATATTAAGGATTCATTCATTCATAGACTCATTTATTGAAGGCT)GTCTGTGTAACAGGCACAATCCTAGGTGCTTGGGATATAGCAGTGAACAAGAGACAAACCCCCTACTATCATGGTACTTACATTTTTGTGGGCTGGATAATAAACAAG|GGATATCATGATAACACATTTTGAACCTTCCATCTCCTTTGAGGGCCTTTGCAATGAGGTTCGAGACATGTGTTCTTTTGACAACGAACAGCTCTTCACCATGAAATGGATAGATGAGGAAG___GAGACCCGTGTACAGTATCATCTCAGTTGGAGTTAGAAGAAGCC(TTTAGACTTTATGAGCTAAACAAGGATTCTGAACTCTTGATTCATG___TGTTCCCTTGTGTACCAGAACGTCCTGGGATGCCTTGTCCAGGAGAAGATA___AATCCATCTACCGTAGAGGTGCACGCCGCTGGAGAAAGCTTTATTGTGCCAATGGCCACACTTTCCAAGCCAAGCGTTTCAACAGG___CGTGCTCACTGTGCCATCTGCACAGACCGAATATGGGGACTTGGACGCCAAGGATATAAGTGCATCAACTGCAAACTCTTGGTTCATAAGAAGTGCCATAAACTCGTCACAATTGAATGTGGGCGGCATTCTTTGCCACAG___GAACCAGTGATGCCCATGGATCAGTCATCCATGCATTCTGACCATGCACAGACAG___TAATTCCATATAATCCTTCAAGTCATGAGAGTTTGGATCAAGTTGGTGAAGAAAAAGAG___GCAATGAACACCAGGGAAAGTGGCAAAGCTTCATCCAGTCTAGGTCTTCAGGATTTTGATTTGCTCCGGGTAATAGGAAGAGGAAGTTATGCCAAAGTACTGTTGGTTCGATTAAAAAAAACAGATCGTATTTATGCAATGAAAGTTGTGAAAAAAGAGCTTGTTAATGATGATGAG___GATATTGATTGGGTACAGACAGAGAAGCATGTGTTTGAGCAGGCATCCAATCATCCTTTCCTTGTTGGGCTGCATTCTTGCTTTCAGACAGAAAGCAG___ATTGTTCTTTGTTATAGAGTATGTAAATGGAGGAGACCTAATGTTTCATATGCAGCGACAAAGAAAACTTCCTGAAGAACATGCCAG___ATTTTACTCTGCAGAAATCAGTCTAGCATTAAATTATCTTCATGAGCGAGGGATAATTTATAGAGATTTGAAACTGGACAATGTATTACTGGACTCTGAAGGCCACATTAAACTCACTGACTACGGCATGTGTAAG___GAAGGATTACGGCCAGGAGATACAACCAGCACTTTCTGTGGTACTCCTAATTACATTGCTCCTGAAATTTTAAGAGGAGAAGATTATG___GTTTCAGTGTTGACTGGTGGGCTCTTGGAGTGCTCATGTTTGAGATGATGGCAGGAAGGTCTCCATTTGATATTGTTGGGAGCTCCGATAACCCTGACCAGAACACAGAGGATTATCTCTTCCAAG___TTATTTTGGAAAAACAAATTCGCATACCACGTTCTCTGTCTGTAAAAGCTGCAAGTGTTCTGAAGAGTTTTCTTAATAAG___GACCCTAAGGAACGATTGGGTTGTCATCCTCAAACAGGATTTGCTGATATTCAGGGACACCCGTTCTTCCGAAATGTTGATTGGGATATG___ATGGAGCAAAAACAGGTGGTACCTCCCTTTAAACCAAATATTTCTGGGGAATTTGGTTTGGACAACTTTGATTCTCAGTTTACTAATGAACCTGTCCAGCTCACTCCAGATGACGA___TGACATTGTGAGGAAGATTGATCAGTCTGAATTTGAAGGTTTTGAGTATATCAATCCTCTTTTGATGTCTGCAGAAGAATGTGTCTGATCCTCATTTTTCAACCATGTATTCTACTCATGTTGCCATTTAATGCATGGATAAACTTGCTGCAAGCCTGGATACAATTAACCATTTTATATTTGCCACCTACAAAAAAACACCCAATATCTTCTCTTGTAGACTATATGAATCAATTATTACATCTGTTTTACTATGAAAAAAAAATTAATACTACTAGCTTCCAGACAATCATGTCAAAATTTAGTTGAACTGGTTTTTCAGTTTTTAAAAGGCCTACAGATGAGTAATGAAGTTATCTTTTTTGTTTAAAAAAAAAAAAAACACTGCATTAAAAAAGTATCTGTTGCATTAAGGCACATAGTGGGATTACATCATAAACCTCCCATAATTTTTGTCATTCTGTGTTAAATCATTTCAGGGTTTAATTTTGAAATAAAAGATTAATATAAAATGCAACAACTTTTTATATTACCTATTAGTTTTGGAGTTCTTTATGTTTAAAAATTCAGGTGTAAATTTTATTGCCTTGGATAAATAAATTATTGATCTTTTTTAAGGCAGCAGTTATTAAATTGGTAATAGAAGATGCTGCTTGCTTAGAATTGGGAAATTCGGCTGGGTGCAGTGACTCAATGCCTGTGATCCCAGTACTTTGGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTGAGATTGGCCTGGTCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACATACCTGTAATCCCAGCTACTCGGGAGGCTGAAACAGGAGAATCGCTTGAACCCAGGAGATGGAGTTGGCAGTGAGCCAAGATTAGCCTGGGCAACAGTGAGTGAGACTCGGTCTCAAACAAAAACCAAATTGGGAAATTCTTCTTGAGTTAAAAAAGACACTTTTTATTATGAATCAGATTCCAAATCATTAACTATTTTTGCAAAACTGGCACAAGTGGTTTTTCTTTTTAAGTATATTAACAGGGTAGCTCCTGAGCCTTTCCCTTTATTGGAAACTTTAACTGCAGTGTTAATATATACACTGCAAAAGACCAAGGATGCAGTTGAATGGAAAATTACTCAGTGTATAGAAAGGAAAAAAACCAGAAATTTAAAATAGATACAGAAAAGTACACTGGTAATATTTTTATTTCCTATTGGAGAGTGAATCCCCACAGTTGCTTTTTGTGACTTGATTCAAATGAGGCACTCATTATTGTTACCAAACTTGTAAAAGCATTCCATGTATTCAGTGGAGGCAGAATGTATAATATTTTTTCCTTATAATTTAGCATACAGGAAAAGTATTTATTTTTTAAGTAGGGTATCTTAATTATGCTCATTTCTTCCCCTAAACCACATTATCTATATGATTGGACCCTTTAGTGAAATCAGAAAAATAAAGTAGGCATGAATAAATGTTCAGGACACACACATACACTCACACACATCACAGTATCAGCTCTTTCAGTGAGTTTTTATTAACTAGATAACACATGTAATACATAGTAGAATACATTTCAGAGGCAGAGTTCCTCGGATTATTTTTTATGGATATTAGTGTTCAGCAGCTTATTATTTAAAGGGGTGCCAAATATAGCATCCTTCTGTTGTTTATTTTAAATATATTTTTAATGAAAAGGGACTTAAAAAGTAAACATGATTATCTAAATTACTTAAAATTTTTTAATCTTAGTAAAAATTTTAGGAAAGTTATCTAGTTTAAATTTCAAATGTTTTAAAATTTGTAGGCATTTAATAAATTATCTTTTTTTGGAGGGGTGGATGCTGCATTTCATTGGAAATGTCATTTTTCCAAAGTTTCTAGCTATATACTCTCTTTCCTTCAAATAACATAAGTCTGAAAGCAATGAAAACGTCAAAGGAAAATGTTTATATACATCCACATGTTTATTTAATATGTTTCTCTTAACACCTGAAACTTGTTTTAAAACAAAAAGCAGTATTCACTTCAAATCATAAACTTAGAATTCTGTATCTCATGTCAGAAATATGTTTATGGCCTTGCTTTTAAGTGGTGCTGTTTCCCATAGGGCATTAGTTCTCAGATTTTGGAATGTGAAATAATCACCTAGGAAGTTGGTTTAAAATGCACACTAGTGAGCCCACCTTAGACTTCTTTTGGGGCCTTCGACCTCACTTTGAGAAATACCTTCTTCAGGTTATTCTTTATGTTTGTCCTGTGGTTAAATATTAGAGTATTCATGATAAAACATTTTGAGAAGGGGTAAGCAGTGAGTTATTACCCACAATTTAAAGCAAATTTTGAATGAATCTTTAAGTTAGGTATCTACCTTCCCACCAGCCCCCCAAAAAACCTCTCAGTAGTTTCTTTCAGTGTACAAAATGATGAGCATTTTTCTATGATGAGGTTTTAACCATTATTCAGGGTGGTCTTTTGTTTTTAAATCTTTTTTTAACTAATAAGATTTACGGTGTGTATTTTATACAGAAATGCATTATAAATGTTTTTAATTGTGTTCTGTTTTTTGCAGTCTTTAAGTGCCATGCCAATTGTTCTTATATTCTATAGAAGTTCGCTCAAAATACTCAACAGGGGAATAGGCAGCGGACAGTCAGAATGGTTGGAATTTTGGCTTTCTAAGAAAAACTTTATTTTGCATAAGCATGTGGTCAGATCATTTTGTGCATATGCAGCCTGGATTGGATGTTAAGTAAATGCTTGTTCAGTGCCGGTACATTTACTTAAATCTGTTTTTATTTTTGTCATGTAGAATACTACTGTGGTCATCATAATGTAATCTATTTCTGTACCTTTTTTTTTTTTTTTTACTTTGAAGTCTTTAAATAAAATGTATAATACCCA)$ . 11BR030 ENSG00000150760.12 ENSG00000019995.6 +/+ +/- chr10:127102030 chr10:124978365 intron intron inversion/3'-3' 5 5 0 5 14 medium stop-codon . C2_domain_in_Dock180_and_Zizimin_proteins(100%),DOCK_N-terminus(100%),Variant_SH3_domain(100%)| . . ENSG00000150760.12 ENSG00000019995.6 ENST00000280333.9 . downstream downstream . ^(CTCCGCCGCAAACTTTTTCCTCCCCATCCTGTCGCGGCTCGAAAGGAATGGAAAATGGCGGCCTAGACGCGGAGTTTCCTGCCCGACCCGCGGCGGCTCCGGCGGCGCCATGACGCGCTGGGTGCCCACCAAGCGCGAGGAGAAGTACGGCGTGG___CTTTTTATAACTATGATGCCAGAGGAGCGGATGAACTTTCTTTACAGATCGGAGACACTGTGCACATCTTAGAAACATATGAAG___GGTGGTACCGAGGTTACACGTTACGAAAAAAGTCTAAGAAG___GGTATATTTCCTGCTTCATATATTCATCTTAAAGAAGCGATAGTTGAAGGAAAAGG___GCAACATGAAACAGTCATCCCGGGTGACCTCCCCCTCATCCAGGAAGTCACCACGACACTCCGAGAGTGGTCCACCATCTGGAGGCAGCTCTACGTG___CAAGATAACAGGGAGATGTTTCGAAGTGTGCGGCACATGATCTATGACCTTATTGAATGGCGATCACAAATTCTTTCTGGAACTCTGCCTCAGGATGAACTCAAAGAACTGAAGAAGAAGGTCACAGCCAAAATTGATTATGGAAACAG___AATTCTAGATTTGGACCTGGTGGTTAGAGATGAAGATGGGAATATTTTGGATCCAGAATTAACTAGCACGATTAGTCTCTTCAGAGCTCATGAAATAGCTTCTAAACAAGTGGAGGAAAGGTTACAAGAGGAAAAA___TCTCAAAAGCAGAACATAGATATTAACAGACAAGCCAAGTTTGCTGCAACCCCTTCTCTGGCCTTGTTTGTGAACCTCAAAAATGTGGTTTGTAAAATAGGAGAAGATGCTGAAGTCCTCATGTCTCTATATGACCCTGTGGAGTCCAAATTCATCAG___TGAGAACTACCTGGTTCGCTGGTCCAGTTCAGGATTACCTAAAGACATAGACAGATTACATAATTTGCGAGCCGTGTTTACT___GACCTCGGAAGCAAAGACCTGAAAAGGGAGAAAATCAGTTTTGTCTGTCAGATTGTTCGCGTGGGTCGCATGGAGCTGAGGGACAACAACACCAGGAAACTGACCTCGGGGTTGCGGCGACCTTTTGGAGTGGCTG___TGATGGATGTAACAGATATAATAAATGGAAAAGTAGATGATGAAGATAAGCAGCATTTCATTCCCTTTCAGCC___GGTGGCAGGGGAGAATGACTTCCTTCAGACTGTTATAAACAAAGTCATCGCTGCCAAAGAAGTCAACCACAAGGGGCAGG___GTTTGTGGGTAACATTGAAATTACTTCCTGGAGATATCCATCAGATCCGAAAAGAGTTTCCGCATTTAGTGGACAGGACCACAGCTGTGGCTCGAAAAACAGGGTTTCCGGAGATAATCATGCCTG___GTGATGTTCGAAATGATATCTATGTAACATTAGTTCAAGGAGATTTTGATAAAGGAAGCAAAACAACAGCGAAGAACGTGGAGGTCACGGTGTCTGTGTACGATGAGGATGGGAAACGATTAGAG___CATGTGATTTTCCCGGGTGCTGGTGATGAAGCGATTTCAGAGTACAAATCTGTGATTTACTACCAAGTAAAGCAGCCACGCTGGTTTGAGACTGTTAAG___GTGGCCATTCCCATCGAGGACGTTAACCGCAGTCACCTTCGGTTTACCTTCCGCCACAGGTCATCACAGGACT___CTAAGGATAAATCTGAGAAAATATTTGCACTAGCATTTGTCAAGCTGATGAGATACGATGGTACCACCCTGCGAGACGGAGAGCACGATCTTATCGTCTATAAG___GCCGAAGCAAAGAAGCTGGAAGATGCTGCCACGTACTTGAGTCTGCCCTCCACGAAGGCAGAGTTGGAAGAAAAGGGCCACTCGGCCACCGGCAAGAGCATGCAGAGCCTTGGGAGCTGCACCATTAGCAAGGACTCCTTCCAGATCTCCACGCTCGTGTGCTCCACCAAACTGACTCAGAACG___TGGACCTTCTGGGGCTCTTGAAATGGCGCTCCAACACCAGCCTGCTGCAGCAGAACTTGAGGCAGCTGATGAAAGTCGATGGTGGTGAAGTAGTGAAG___TTTCTTCAGGACACGTTGGATGCCCTCTTCAACATCATGATGGAGAACTCAGAGAGTGAGACTTTTGACACGTTAGTCTTTGATGCTCTG___GTATTTATCATTGGACTGATTGCTGATAGAAAATTTCAGCATTTTAATCCTGTTTTGGAAACTTACATTAAGAAACACTTTAGTGCAACGTTAGCCTACAC___GAAGTTGACAAAAGTGTTGAAGAACTACGTGGACGGTGCTGAGAAGCCGGGAGTAAATGAGCAGCTGTACAAAGCCATGAAAGCGCTAGAATCCATCTTCAAGTTCATCGTGCGCTCCAGGATCCTGTTCAATCA___ACTGTATGAAAACAAGGGAGA)GGCTGACTTCGTGGAATCTTTGCTGCAGCTCTTCAGGTCCATCAATGACATGATGAGCAGCATGTCAGACCAGACCGTCCGGGTGAAG___CAACACTGAGGTTGTGGAAGCAGAACATTTGAAATCAGAATGAAATTATTACGATTTAGTGCTCTTTTGAAAAGTTGCA|c|TGACTTAAGAAAACATCTCACTCCAGCTGATTTCAATTAAGTGCAAAAGGCACCTCAGCAAAGAGCATCTTTAAAAGGAGACTACACAAGCTACATGCTGGCTCCTCCTCTCCTGGCCTAGAAAACCCACGGCTGCTCACTCTACTCTCTACTGGTCACATGACAGGCCCAGTGGACAAACCTAATGCAACTCAACACAAGAACTATGTATGGGTTATTCCTTAGGGCTAGTATATCTGATCTCCCGAATCCATGGC . 11BR030 ENSG00000196366.3 ENSG00000286052.1 +/- +/- chr9:136484466 chr20:57456954 exon intron translocation 3 5 0 26 19 medium . . . . . ENSG00000196366.3 ENSG00000286052.1 . . upstream downstream . CCTCAGCCGCTGCTGGGAGCTCAGCCTCCCGCGATGCCATCGGGCGGGCACCCCCACCACGGCGCCTGCCCTCTGGAAGGAGCAGCAGAGGAAGGCCGCGGCTCTTCCCTGCCCTTGCCAGGCAGGTGTGCAG|AACAAAGGGCGAACTTcGCAAACCCATCCATTCTTCCCAGTTGACAAAGCACCTTCACCTGCCTTGACCTTAGCCTCAATGACAGCCTCCCACTGTGACCCTGGTTGAGATGGAAACGGG . 11BR030 ENSG00000078687.17 ENSG00000108389.9 +/+ -/+ chr17:78108722 chr17:58491609 3'UTR 3'UTR duplication/5'-5' 2 6 0 7 133 medium stop-codon . Argonaute_hook(100%),M_domain_of_GW182(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),TNRC6-PABC_binding_domain(100%),UBA/TS-N_domain(100%)| . . ENSG00000078687.17 ENSG00000108389.9 ENST00000301624.8 . downstream upstream . ^(AGGCTGCTGATCAAAAAACCAAAG___TGCCAGAACCTACTAAGACCTGTTCAAGCCAGCCCCAACCTGCCGGTACCAGTACCAGTACTTCCACCAGCACTATCTCAAGCAGCAACAATGGCAAACGTGCATCTGCCAGTGGCCAGCAGCCAGCTGCATCCCGTTACCTGCCTCGTGAGGTGCCTCCACGCTTCCGCCAGCAAGAACAGAAGCAGCTATTAAAGAGAGGCCAGCCATTGCCTACGGGGACTCTAACCAGTGTGAGCCCAACCCAGGGTGCTGGGCCTGCAGGGGTAAGCCCACCTCCCCTACCTGGAGCCGGAACACAGCATCATCCCAGTAAGCTCCAACCAG___ATCTCAGTCATAGTGGATTGGCAGATCATTATGAAAATTCCCACTGGGGACAGCAGCCTACTTACAGAAGCGAAGCCAACTGCAGCTGGGATAAAGTGATAATAGATAGGACTGACAAGGAGGCGTGGCCTTCCATCACAGGAACAGAGACTGAATCTGCCTCAGAATGTACTACAGACACTGACTCTGCCTCCAACTGTGGCTCAGAGAACAGTAGCATGGCTACAGGGAGTGCCCAGGGCAACTTCACTGGACATACCAAGAAGACAAATGGCAATAATGGCACCAATGGCGCACTCGTCCAAAGCCCTTCTAATCAGAGTGCCCTTGGAGCAGGGGGAGCGAACAGTAATGGAAGTGCGGCCAGAGTGTGGGGTGTAGCCACAGGCTCCAGCTCTGGCCTGGCTCACTGCTCTGTCAGTGGTGGGGATGGAAAAATGGACACTATGATTGGAGATGGGAGAAGTCAGAATTGCTGGGGTGCTTCCAACTCCAATGCTGGCATTAATCTTAACCTTAATCCTAATGCCAACCCAGCTGCCTGGCCTGTACTTGGACATGAAGGAACCGTGGCGACAGGCAACCCTTCCAGTATTTGCAGTCCAGTCAGTGCCATAGGTCAAAATATGGGCAACCAGAACGGGAACCCAACAGGCACTTTAGGTGCTTGGGGAAACTTGCTGCCACAAGAGAGCACAGAACCACAAACGTCCACTTCTCAGAATGTGTCTTTCAGCGCACAACCTCAGAACCTTAACACTGATGGACCAAATAACACTAACCCCATGAACTCTTCACCCAACCCTATCAATGCAATGCAGACAAATGGACTGCCAAACTGGGGCATGGCTGTTGGTATGGGGGCCATCATCCCGCCCCACCTGCAAGGCCTTCCTGGTGCTAATGGATCATCAGTTTCTCAAGTCAGTGGGGGCAGTGCTGAAGGAATAAGCAATTCTGTGTGGGGACTGTCCCCAGGTAACCCTGCCACAGGAAATAGCAATTCTGGGTTCAGTCAGGGGAATGGAGACACTGTGAACTCAGCATTAAGTGCTAAACAAAATGGATCCAGCAGTGCTGTGCAAAAGGAAGGAAGTGGAGGAAATGCTTGGGATTCAGGACCTCCTGCTGGTCCTGGAATACTCGCCTGGGGAAGGGGCAGTGGCAACAATGGCGTTGGTAATATCCATTCAGGAGCTTGGGGCCACCCCAGCCGAAGCACCTCTAACGGTGTGAATGGGGAATGGGGAAAGCCCCCAAACCAGCATTCCAACAGTGACATCAATGGGAAAGGATCAACAGGGTGGGAGAGTCCTAGTGTCACCAGCCAGAACCCTACCGTACAGCCTGGTGGTGAACACATGAACTCCTGGGCCAAAGCGGCATCTTCTGGAACTACAGCAAGTGAAGGAAGTAGTGATGGTTCTGGCAACCACAATGAAGGAAGCACTGGGAGGGAAGGAACGGGAGAAGGCCGAAGGCGAGATAAAGGGATTATAGACCAAGGGCACATCCAGTTGCCAAGGAATGATCTTGACCCAAGAGTTCTGTCTAATACTGGTTGGGGACAGACTCCTGTAAAGCAAAACACTGCCTGGGAATTTGAAGAATCCCCTAGGTCTGAAAGGAAAAATGACAATGGGACAGAGGCCTGGGGTTGTGCAGCTACTCAGGCTTCAAACTCAGGGGGGAAGAACGATGGGTCCATCATGAACAGTACAAATACCTCTTCAGTATCTGGGTGGGTCAACGCGCCACCTGCCGCTGTGCCAGCAAACACAGGTTGGGGAGACAGCAACAACAAAGCGCCAAGTGGCCCGGGGGTTTGGGGGGACTCGATAAGCTCTACTGCTGTTAGTACTGCTGCTGCTGCCAAGAGTGGCCATGCTTGGAGTGGGGCCGCAAATCAGGAGGACAAGTCACCCACCTGGGGTGAGCCTCCAAAGCCCAAATCCCAACACTGGGGAGATGGACAAAGATCAAATCCAGCCTGGAGTGCAGGAGGGGGAGATTGGGCAGATTCATCGTCTGTCCTTGGACACTTGGGGGATGGGAAAAAAAATGGATCTGGATGGGATGCTGACAGTAATAGGTCAGGGTCTGGTTGGAATGACACCACGAGATCTGGGAACAGTGGCTGGGGCAACAGCACAAATACAAAGGCCAATCCAGGTACAAACTGGGGGGAGACTTTAAAACCTGGCCCCCAACAGAACTGGGCTAGCAAACCCCAAGACAACAATGTGAGTAACTGGGGAGGAGCTGCTTCTGTGAAACAGACAGGAACAGGGTGGATCGGGGGGCCGGTACCGGTCAAACAGAAGGACAGCAGTGAAGCAACTGGCTGGGAAGAACCCTCTCCACCGTCCATTCGCCGCAAAATGGAAATTGATGATGGTACCTCAGCTTGGGGGGACCCAAGCAACTATAACAATAAAACTGTAAACATGTGGGATAGAAACAACCCGGTCATCCAGAGCAGTACCACGACCAATACCACCACCACCACCACCACTACCACGAGCAACACCACACACAGGGTCGAGACGCCGCCCCCGCACCAGGCCGGTACTCAGCTGAATCGATCACCGTTGCTTGGTCCAGGTAGGAAAG___TTTCATCAGGCTGGGGAGAAATGCCTAATGTTCACTCAAAGACTGAAAACTCTTGGGGAGAACCATCCTCCCCTTCTACCCTGGTGGATAATGGCACAGCAGCATGGGGGAAGCCACCCAGCAGTGGCAGCGGGTGGGGAGATCACCCTGCAGAGCCGCCGGTGGCATTTGGAAGAGCTGGCGCACCTGTTGCTGCCTCAGCCCTGTGCAAACCAG___CTTCAAAATCTATGCAAGAAGGCTGGGGCAGTGGTGGGGATGAAATGAACCTCAGTACCAGCCAGTGGGAGGATGAAGAAGGGGACGTGTGGAATAATGCTGCTTCCCAAGAAAGCACCTCCTCCTGCAGCTCCTGGGGGAACGCCCCCAAAAAAGGACTTCAAAAG___GGCATGAAGACGTCTGGCAAGCAGGATGAGGCCTGGATCATGAGCCGGCTGATCAAACAACTCACAGACATGGGCTTCCCG___AGAGAGCCAGCTGAGGAGGCCTTGAAGAGTAACAATATGAATCTTGATCAGGCCATGA___GCGCTCTGCTGGAAAAGAAGGTGGACGTGGACAAGCGTGGGCTGGGAGTGACCGACCATAATGGAATGGCCGCCAAGCCCCTCGGCTGCCGCCCGCCAATCTCCAAAGAGTCTTCCGTGGACCGCCCCACCTTTCTTGACAAG___GATGGCGGCCTCGTGGAAGAGCCCACGCCTTCACCGTTCTTGCCTTCCCCAAGCCTGAAGCTCCCCCTTTCACACAGTGCACTCCCCAGTCAGGCCCTGGGTGGGATTGCCTCCGGGCTGGGCATGCAAAACTTGAATTCTTCTAGACAG___ATACCGAGTGGCAATCTGGGTATGTTTGGCAATAGTGGAGCAGCACAAGCCAGGACCATGCAGCAGCCGCCACAGCCACCAGTGCAGCCTCTTAACTCTTCCCAGCCCAGTCTCCGTGCTCAAGTGCCTCAGTTTCTATCCCCTCAG___GTTCAAGCACAGCTTTTGCAGTTTGCAGCAAAAAACATTGGTCTCAACCCTGCACTATTAACCTCGCCAATTAATCCTCAACATATGACGATGTTGAACCAGCTCTATCAGCTGCAGCTG___GCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAA___GTTGCGCGCACAATCACTAATCTGCAGCAGCAGATCCAGCAGCACCAGCGCCAGCTGGCCCAGGCCCTGCTCGTGAAGCAGCCACCACCGCCACCGCCCCCGCCGCACCTGTCTCTGCACCCCTCTGCAGGCAAATCGGCCATGGACAGCTTCCCCTCGCACCCACAGACTCCCGGCCTACCTGACCTGCAGACCAAAGAGCAGCAGTCTTCACCCAACACCTTTGCTCCTTACCCTCTCG___CTGGACTGAACCCAAACATGAATGTCAACAGCATGGACATGACCGGTGGCTTGTCGGTGAAGGACCCATCCCAGTCCCAGTCACGCCTCCCCCAGTGGACGCACCCCAACTCCATGGATAACTTGCCCAGTGCCGCTTCCCCCCTGGAGCAGAACCCTAGCAAGCATG___GTGCTATCCCTGGAGGTCTAAGCATTGGGCCTCCAGGTAAGTCCTCCATTGATGACTCCTATGGCCGGTACGATTTAATCCAGAACAGTGAGTCACCAGCCAGTCCTCCCGTAGCTGTTCCCCATAGCTGGTCACGTGCCAAATCTGACAGTGATAAAATCTCAAATGGCTCTAGCATCAACTGGCCCCCAG___AATTCCATCCGGGAGTTCCATGGAAAGGACTGCAGAATATTGACCCTGAGAATGACCCTGACGTCACTCCTGGCAGTGTCCCCACTGGGCCTACCATCAACACCACCATCCAGGATGTCAACCGCTACCTCCTCAAGAGTGGAG___GTAAACTGTCAGACATCAAATCGACGTGGTCCTCTGGCCCTACCTCCCACACGCAAGCCTCTCTGTCTCATGAACTATGGAAGGTGCCCAGAAACAGTACTGCACCCACGAGGCCACCTCCAGGGTTAACCAATCCCAAGCCCTCCTCCACCTGGGGTGCCAGCCCCCTCGGCTGGACCAGCTCCTACTCCTCGG___GTTCTGCCTGGAGCACCGACACCTCAGGAAGAACCAGCAGCTGGCTCGTTCTTCGAAACCTCACTCCCCAG___ATTGATGGTTCTACACTGCGGACATTGTGTTTGCAACATGGGCCTCTTATCACATTCCACCTGAATCTGACTCAAGGCAATGCTGTGGTCCGGTACAGCTCCAAGGAGGAGGCTGCCAAGGCCCAGAAGTCTCTGCACAT___GTGCGTCCTGGGAAACACTACCATCCTGGCCGAGTTCGCTGGTGAAGAAGAAGTGAATCGCTTCTTAGCCCAAGGCCAGGCGCTGCCACCCACTTCCAGCTGGCAGTCCAGCAGCGCGTCCAGCCAGCCGCGGCTCAGCGCAGCGGGCAGCTCCCATGGCCTGGTACGCAGCGACGCTGGCCACTGGAACGCCCCGTGCCTGGGTGGCAAGGGGAGCAGTGAGCTGCTGTGGGGCGGGGTGCCCCAGTACTCCAGCAGCCTGTGGGGCCCGCCCAGCGCCGACGACAGCAGGGTGATAGGCAGCCCCACGCCGCTAACCACCCTGCTGCCTGGGGACCTGCTCAGCGGGGAGTCCCTGTAGGCTCTGCCATCATCAGCACCAGGAGAGCCGACCCCTCCCGGGACCCCTCCCGGCTGGGCGGCCCCACAGACCCGCTGGAACCCAGCAGCGGCCGCCCTTTTGAGTACCTCTGTCCAGGACTGAAGACGAACCTTGGCCGCAGTCCTTGCGAACTGTTCGCAAAACAGTGCGGGCTGCGGTGGGTCAGCGTCACATGCTAATGACAGGATGTTCCTCGTAGCTTTTTATTTTGTGCGTCTTATGTTTGTATAGTGTGTTGTCATTTTGATTTTTTTTTTTTTTTTAAGTATAAAAGCTGCTTAGAATAGTTCTATCATGAAGGGCACTTTTCAGATTGTGGGCTGGAAAGGGTTATTTTATCTGTGGGGGAGGGAGGGAGACGTGAAGCCTATTTAAAATGAGCCTGTGACGATTATGCACATGACCAGAGGCGGCCGGTAATCAGGGCAGAGTCTGGTGTGGACCGCCGGGCGCAGAGCGGCTCCGCGGCGGGAGCTGAGCGGAAGGCGCGGGCTGCGATCTGCTCTCTGTTCCCCTGGATCCGCCTATGCACATTACCCTTGTTTCATTACTTTTTCATGTCATTTTTTTATCCCAAAAAATATTTTTTAAAAGTTAAAAAAAGACATATCAAACATGCAAATACTTGAATCCAGCAGGCCAATAGTGAAATGTGAACACTTTCTAATTCTACACTTCCAGGTTGACATCAGTACACAGAAACAGGCTCTAGGAAAAATTTCTAAGTTCATAGCCTACGTGTGTGTATGTGTGCGTGTTGAAACAGAAGTGTGTGTGTGTGTGCATGTGTGGCGCGTGCTCCTGCACGGCGTGCAGTTTTCTGTGTTTGTGTGTTTGAAAGCGTGTGAGGATTTAACTGTGGGTTTTCCCTTGTATTCAGTATACGCTTTTTTTTTGGCGCATTGGTCAAACGGTTGTTATTATTAGCTTCTAACTTTGCACTGAGTGTCCTCGCCCTTCCTTTAGCTAATCCTATACATTACAGAGAATTCCTAGGACAGGGCTGGCGACAATTCATGTGTAAATGTTTACTCAAGGACTCTGTGACTGCGTTTAAAAAGTACAGTGTATATCTCTGGAGAAATAACATGTATACCTACCTTTAGCAGCTTTTTATTGTGGACTAATGCAAGAAAATTATTACCAGAGTATTGCACCATTTTTCCATTTGGAATATAAAGTTAAAGAGAAAAAAAAAAAAAACTGTTGTTGAACTGTGGCCATAGATACTTGTAAAGAATGGATGGTTCCGTGGAAGGAACAGAAACAAGCACTTGGGCGTGGGTTGTGACTGCTTTTGGGGGAGCCTGGGGTTTGGGCTCCCACCTGTTTACAGACCTTTTTTTCTCCTTCAGACTTTAAAATTTTAAAAATTTAAAAAGGAATTAAAAAAAAAAAAAGACTTCCGTCGTAAAGAAACCTATTTTCAGAATGCAGATGCGTTCCTTCAGAGCTCTGGGACGGGACAGTGTTGTTCCCTCGGCCATCGTCGTGGACTCTGTCGATTGCTTTCGCCCCTTCGTCAAGGTGACAGGCGTTGTGGCCACTGTCTTGCACATGCCGGACGCGCTCTCAGGAAAGCCAGGGCTCCCGAGGGCAGCTCCACACCATTTCATGTATTTTTAAACCCAACTCCTAGCACTGAAGATGTTATTTAAAAAAAAAAAAAACAAAACAAAACAAAAAAATGAAAAAAAAGAAAAAGAGGAAAAAAAAACACAAAGAAGAAAAATACCTAATCTCTAATGTGTAGCAGTTACATATTTACCAAATAATGGACTCAAAAGAAATAGATGTTTGAAGAGTGCTTTATATATTAAAAATTGCTTTATGTTTTAAAAATGATCAATGTTTTGATTGTTTTGCAAGGAAGAAAGACAATGGAATAACATACCTTCAAGTATGTTTTAAAAAATATATATATGAACATTGTGCTCCCTGCCTGCTTGATCAGGAAACTTGTGCATTACATTTTTTTAATTAGCTTTTTAATGGTTTTATCAAAACAAAAAAAATACAAAAAAAAAAAAAAAAGTCCTGCAAGACTGCAGATCCACAAAAGCTGGTTTTATAGAGGATCATGAACTATGCACAAACTGGGTTCAAGACTTTTTTTCTCAAGTTTAGTAGGATATTTAGAAAAACCAACCTTCCTCAGAGTGACTGCATCTCATTGCCATTACATGCGTTCTATATATTCGATGGACATACACCTGCGTATGTATATCCAATATGTGTGCGTGTGAGCATGCGTGTGCGTATGTGCGTCCGACATACCACTTCCCGTGCTGCCGGCGAGCATTGAGTTGTAGAAAAACTGTTGTTTTAAAATTGGGGATGGAAGTCAAGAATATGTTTGTTTGTTTTTGGGTTTTGTTGGGTTTGAGGGGTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTACCTTTTATTTTGAACTTAATATGTCTGTAACTCTGAGATTAAACAACAAGTTCGTGGCTCTTAATGTTTTCCTCATAGAATGTGACTGTTGAAGAACATGCATCGAAAGTTGCTTTCGAAAGTACAACGCTTTATTGAATCTTAATAAATTGCAATTTTTTTCTTGGCTGTTCAAAGTAATGTGTTTTTCATTTTTCAAAAGACACTATGGATGTCTACTTTGCACGCTGCGATTGGGAGAGCTGTCCCGCTGCATGCGTTCCCTCTGTAATTTCCTCAGAGCTCACATACGTACCTCTCTCACGAGTGAACTCAGATTTTCCATTGTTTTGCTTTATTCTATCATTTGCTTTGTGGTTTTGCTGTAAATATTGAAATCTTAATCATCATCGAGAGGCACAGCCAAGCTTTCCAGCTCTCCACCCCCGTGGCCCATCCAAGTCTGTTCATCTGGTAACTTCTGTTGTCTGGGACGGCAGCAAGAAGATGCCGGGGCTTGCCTGGAGTCCTGGCAGAGGAGTGCCACTCACTTTTGCCTAGGGTCCAGTTGGGGCTTAAAAAATATTTGGAGAGAAGAGTAATGAGGATTTTTTGTGTTTCCTAGACATTTTATGCATCTATTTTTGTAAAATCACCTTCGCTAACTTTCACCAAGCACTTTGAGCACAGTGGAACTTCAGAAGCACAACCAGCCTAACCCCAGAATCTCAGGTGGCACAGCTAGAAATTGAGTCCCTTCCTAGGACACTGGCCGTGGCCTTCAGGGTGACCAGTCAGTGCCACCGGGTTGGCATTGGTGTTACAGACAGGCCTCTGAAGACAAACCGAGCACCCCAGCGGCCCCTCAAACTAAGCAAGGATCTTTTTTCTGTCTGCGCTCCCTGGGGCAAGGTCAAAGGTGGACCCGCCCACTGTGGGTCAATTCCTTCGAAAAGATGGGACCCGCACCCCCGCCACAGGCTGGCCCCCCCCCACCCATGGGGAAGGTGGTGTGCTGCTGGCTCTGACCATACTCTTTTGGAAATTGAGAAGGAAAGCATTGAGTGGGACCTAATCCGGAGAAGAAATTAAAGACCAGAAAAAGAAGGAAGCTGGGAATGAAACTCAAAATGCACTTGAACCTGGAAGCGGCAACCCTCAGCTCTGCGCGGCCGAGCCTCAGCAAGAGTTCGTTTTGTGCCTGAGTTACTACTACAGGGGCAAACTGTACCCGTGCCTGTGCGCTGGGAGAACAAGGTCAGCGCCCAAGGGTGTGCAAAGGATGTGGCAGGCTTCATGGAGGAGGTGGCATTTGCCCTGGGCCT)GGGAGACCAGGTTGGATTTTGACAGACTGGGAACTCGGGGGACAGGAGGGCAGCACAGTGTAAGCTAAAGCCCTGTGTAGGGACCCCACGCAAAGACCTCGTGGGCCTGGGTGTCCAGGGCACCATTTCCA|GAAGAAGATCCTCCCTTCAAACCTGCTAAAATTGGACAGGTTTCTCCCCGGCATTCAACTGGAAGCTGTAGCAATGGGTTTCTTCAGCTGTTGGCTCATGAGTTCCCTGGCACGAGAGACTTGAATGTGTTCGTAACATGAGTTACAGACGAGAACTGG . 11BR030 ENSG00000128641.19 ENSG00000227517.7 +/+ +/- chr2:191277030 chr17:69746857 CDS/splice-site intron translocation/5'-5' 4 0 0 133 7 medium out-of-frame . Myosin_head_(motor_domain)(100%)| . . ENSG00000128641.19 ENSG00000227517.7 ENST00000339514.8 . downstream downstream . ^(GGTGGCTCCCGTTCCTGCCCGCGCGCCGAGGGGCGAATCCCAGGCAGCGAGGTCGCCGCCCCCGCCCCTCGGCCGGCCCCTCCGCCAGCGGGCGAGAGGGGAGTGGCCGGGCTCCTCCCGCCGCCGCTGAGCACTCCGCAGCTGGGTGCGCACGGGAGCCTCAACCGCGGCGCGTGGAGGCAGTACCAGAGCGCGCGGCGCGCAGTCGGCCGGCAGCCGCGGGACAGCCTTGGCAGAACAGCCGCGGCGGGAGCCCCGCAGCCCCGGGCTGGGCCCGCGTCCCGGAGCGCCACCGGAGAGCGAGGACGACGTGGAGGCGGAGTGGCGCCCGGCGAGGTA)GCGCCAGGCGAG___CTGGAGACCATGGCCAAAATGGAGGTGAAAACCTCACTTCTGGACAATATGATTGGAGTTGGGGATATGGTTCTTTTAGAACCTCTCAATGAGGAGACCTTCATCAACAACCTCAAGAAGCGCTTTGACCACAGTGAAATATAC|GTGGCTTGAAATTTGAAACACCATATGAAGGTTGGGGAGTCTCAGGGACAGCCCAGCTGGGG MAKMEVKTSLLDNMIGVGDMVLLEPLNEETFINNLKKRFDHSEIY|va* 11BR030 ENSG00000108306.13 ENSG00000108306.13 -/- -/+ chr17:39343180 chr17:39377190 CDS/splice-site intron inversion/5'-5' 1 3 0 99 26 medium out-of-frame . F-box-like(100%)| . . ENSG00000108306.13 ENSG00000108306.13 ENST00000264658.11 . upstream upstream . ^(GGAGAGAGCCGAGCTAGCGACGAGCAGTCGTTGCGGCCGCCGGCGCCGCGGGAGGTGGTGGAGGCCTAGCCGGAGCCGAGAGGTCTCTTGTTCCCGTCCCACGGTCCCGGCGTCACCCCTCCGGCGCCCAGTCCCCGTCCCGGAACTCCCGGGCCTGTCCTGGGCCCCCGGTCTGTGCACTCCGCTCGCCGCAGCGCCCGGCCCGGGCCGCACCCGCCGGCCCCATGAGGAGGGACGTGAACGGAGTGA)CCAAGAGCAGGTTTGAG___ATGTTCTCAAATAGTGATGAAGCTGTAATCAATAAAAAACTTCCCAAAGAACTCCTGTTACG|ACCCTGCACTTGATGGATCAGCTGGCACCACCCAGATCGATTAACTGGCTCATCTGATCTTGGAGCCCCCACCCAGGAACTGACTCAGTGCAAGAGGACAGCTTCGACTCCCTATGATTTCATCCCTGACCAATCAGCACTCCTGGCTCACTGACTTTCCCCCACCCACCAAGCTGTCCTTAAAAACTCTGATCCCCA MRRDVNGVTKSRFEMFSNSDEAVINKKLPKELLLr|pct* 11BR030 ENSG00000008952.17 ENSG00000174891.13 +/+ +/- chr3:169966858 chr3:158223338 CDS/splice-site intron inversion/3'-3' 0 4 0 681 12 medium out-of-frame . . . . ENSG00000008952.17 ENSG00000174891.13 ENST00000337002.9 . downstream downstream . ^(GGGCGGAGCGG)CCAACATGGCGGAACGCAGGAGACACAAGAAGCGGATCCAG|AAAAAGTTTCCTGAACCTAACCTACAGAGTCTGAAAAATGATGGAACCCCCTTACCAAGTCTAGAGATGCTTCAACATTTGCAGAGGCAAAAGACATCAGAGGAGTGGCCACTGAGATGGTATTGCAGATGATCAAGAGAGGAAGGTATTTCAAGAAAGAGGAAGACGAAGGGCATACGAG MAERRRHKKRIQ|kkfpepnlqslkndgtplpslemlqhlqrqktseewplrwycr* 11BR030 ENSG00000141367.12 ENSG00000267471.1(113932),ENSG00000271239.1(35407) +/- ./- chr17:59666218 chr17:70743197 CDS intergenic duplication 2 2 0 959 3 medium . . . . . ENSG00000141367.12 . . . upstream downstream . GGCGCTGCACAATTACTAAAACAATGTTGGAAACATGCCTAAAAAGCATTAAAACACATACTTGAGGCGCATGCATAAGGTTCA|CACAAAGAAGTTTAAACATTTAAAAATTAACTATATAAATTGCTATTCACATGGAAAGAATGAGTTTTTGTTCAGAATAATTCTTATCTTTACTGGCGGAAGGAGGAC . 11BR030 ENSG00000166833.21 ENSG00000020256.20 +/+ -/- chr11:20036097 chr20:52098587 CDS/splice-site CDS/splice-site translocation 0 3 0 3 20 medium out-of-frame . Calponin_homology_(CH)_domain(100%)|C2H2-type_zinc-finger_domain(100%),C2H2-type_zinc_finger(100%) . . ENSG00000166833.21 ENSG00000020256.20 ENST00000360655.8 ENST00000371518.6 downstream downstream duplicates(1) ^(TCTCATGATGCCGGCAGCAGTCACCCTCATTGCAAAGGCAGTGGTGCCGAGTGAGGTTCCCGAGTGGATTTTAAGAAGACAGGAAGACCTTTGAAGAGGTGGTGCTGATTTCCTTGGCTGGCGGGAACTCTGTCTGGCTGTTGCATGCATCACTTTTGTGTGGGTTATTTTGTTCCTCTGTGGATTTGGAAGCATCGCTGAAGGAGAGAGAGGATTTTATTTCTGGGAAATGGAATCGGTTTCTGAGTCCAGCCAACAGCAGAAGAGAAAGCCAGTTATCCACGGACTGGAAGATCAAAAGAGG___ATCTACACAGACTGGGCCAATCATTACCTAGCCAAATCCGGCCACAAGCGTCTCATCAGGGATCTCCAGCAAGATGTGACAGATGGCGTCCTCCTGGCCCAGATTATCCAGGTTGTGG___CAAATGAAAAGATTGAAGACATCAATGGCTGTCCGAAGAACAGATCCCAAATG___ATTGAAAACATAGATGCCTGCTTGAATTTCCTGGCAGCTAAGGGAATAAACATCCAGGGGCTGTCTGCAGAAG___AGATCAGGAATGGAAACCTCAAGGCCATTCTAGGCCTCTTCTTCAGCCTCTCCCGATACAAGCAGCAGCAGCAGCAGCCCCAGAAGCAGCACCTCTCCTCACCTCTGCCGCCCGCCGTATCCCAGGTGGCCGGGGCCCCCTCCCAGTGCCAGGCTGGCACCCCTCAGCAGCAGGTGCCAGTCACTCCCCAAGCCCCGTGCCAGCCTCACCAGCCAGCGCCACATCAGCAGTCAAAAGCACAAGCTGAAATGCAGTCCAG___ACTTCCAGGTCCTACCGCGAGGGTATCCGCTGCAGGCAGCGAGGCCAAAACACGCGGAGGGTCAACTACTGCTAACAACCGACGCAGCCAGAGCTTTAACAACTATGATAAATCCAAACCAGTCACCTCCCCACCCCCACCGCCAAGCAGCCACGAGAAAG___AGCCTTTGGCAAGTTCAGCCTCCTCCCACCCCGGAATGAGTGACAATGCACCTGCTTCCTTGGAGAGCGGCAGCAGCTCCACCCCTACTAATTGCAGTACCTCCTCGGCCATCCCGCAGCCCGGTGCAGCCACCAAGCCTTGGCGCAGCAAATCCCTCAGCGTGAAGCACAGTGCCACGGTATCCATGCTCTCGGTCAAGCCTCCTGGGCCTGAGGCCCCCAGGCCCACACCTGAAGCCATGAAGCCGGCCCCCAACAATCAGAAGTCCATGCTGGAAAAGCTGAAACTTTTCAACAGTAAAGGGGGCTCAAAGGCAGGTGAGGGGCCGGGGTCCCGGGACACAAGCTGTGAGCGGCTGGAGACTCTGCCCAGCTTCGAAGAGAGCGAGGAGCTGGAGGCCGCCAGTCGCATGCTCACCACCGTGGGCCCTGCTTCCAGCAGCCCCAAGATTGCACTCAAGGGCATTGCCCAGAGGACTTTTAGCCGGGCACTGACCAACAAGAAGAGTTCTCTGAAAGGCAATGAGAAAGAGAAGGAGAAACAACAGCGGGAGAAGGATAAGGAGAAAAGCAAGGACCTTGCCAAGAGAGCCTCTGTGACGGAGAGGCTGGACCTCAAGGAGGAGCCAAAAGAAGACCCCAGTGGAGCAGCTGTGCCCGAGATGCCAAAAAAGTCCTCCAAGATTGCCAGCTTCATCCCCAAAGGGGGGAAGCTCAACAGTGCCAAGAAGGAGCCCATGGCCCCTTCCCACAGTGGAATACCAAAACCAGGAATGAAAAGCATGCCCGGGAAATCCCCAAGTGCCCCAGCGCCTTCCAAGGAAGGGGAGCGGAGCCGGAGTGGGAAGCTGAGCTCAGGACTCCCCCAGCAGAAGCCCCAGCTGGACGGCAGACACTCCAGTTCCTCTTCCAGCCTGGCGTCCTCAGAAGGAAAAGGCCCAGGAGGGACCACCCTGAACCACAGCATCAGCAGCCAGACTGTCAGTGGGTCTGTCGGGACCACCCAGACCACAGGAAGCAATACCGTCAGTGTTCAGCTACCTCAGCCCCAGCAGCAATACAACCATCCCAACACTGCCACGGTTGCACCTTTCCTGTACAG___GTCTCAGACGGACACTGAAGGGAATGTTACTGCCGAGTCAAGCTCAACAGGTGTGAGCGTGGAGCCCAGCCACTTCACCAAGACTGGACAGCCTGCTCTGGAAGAACTCACTG___GGGAAGATCCTGAGGCTCGGCGGCTGCGGACAGTGAAGAACATCGCTGATCTGCGGCAGAATTTGGAGGAAACCATGTCCAGTTTAAGGGGAACTCAGGTTACACACAG___CACATTGGAAACCACGTTTGACACCAATGTCACCACGGAGATGAGTGGCCGTAGCATACTCAGCTTGACAGGGAGGCCCACACCTCTGTCCTGGAGACTGGGCCAGTCCAGCCCTCGGCTCCAAGCAGGAGACGCCCCCTCAATGGGCAATGGGTATCCCCCTCGAGCCAACGCCAGCAGGTTCATCAACACTGAGTCAGGTCGCTATGTGTACTCCGCCCCTCTGAGAAGGCAGCTGGCCTCCCGGGGCAGTAGTGTCTGCCATGTGGACGTCTCAGACAAGGCAGGAGATGAGATGGACCTGGAAGGCATCAGCATGGATGCCCCCGGCTACATGAGCGACGGGGATGTTCTGAGCAAGAACATCCGGACCGATGACATTACAAGCGG___ATACATGACTGATGGTGGACTTGGCCTCTATACCCGTCGCCTGAACCGGCTCCCTGATGGGATGGCTGTGGTACGGGAGACCCTGCAACGAAATACCTCCCTGGGCCTCGGAGACGCTGACAG___CTGGGACGACAGCAGCTCCGTCAGCAGCGGCATCAGCGACACCATAGACAACCTCA)GCACTGATGACATCAACACCAGCTCCTCCATCAGCTCTTATGCCAACACACCTGCCTCCTCTCGAAAAAACCTGGATGTGCAG|CTTCAGAACTTGATGATGATGTTCCAAAAGCAAACTGCCTCTCCACTGAAAGCACTGACACTCCGAAGGCCCCTGTCATCACTCTTCCCTCAGAGGCAAGGGAACAAATGGCCACCCTTGGAGAGAGGACGTTCAACTGTTGCTACCCAG___GTTGCCACTTCAAAACTGTCCATGGCATGAAAGACTTGGACCGCCATCTCAGAATCCACACGG___GAGACAAA(CCGCACAAGTGTGAGTTCTGTGACAAGTGCTTCAGCCGGAAGGACAACCTGACCATGCACATGCGGTGCCACACCAGTGTGAAGCCACACAAGTGTCACCTGTGTGACTACGCTGCCGTGGACAGCAGTAGCCTCAAGAAGCACCTGCGGATCCACTCTGATGAGCGGCCGTACAAATGCCAGCTCTGCCCCTATGCCAGCCGCAACTCCAGCCAGCTCACCGTCCACCTGCGATCTCACACGG___GGTGTTGCTATGTTGCCTAGATGGAATGCAGTGGCATGATCACAGCTCACTGCAGCCTCGACCTCCTGGACTCAAGCAATCCTCCTCCTCCTGCCCCAGCCTCCCAAATAGCTGGGACCACAGGCATGTGCCACCACGCCCAGCTAATTTTTTTATTTTTTATAGAAACGAGGTCTTGCTCTGTTGCCCAGGCTGGTCTCAAACTCGTGGGCTCAAGTGATTCTCCTGCCTTAGCCTTCTGAAATGCTATGATTACAGGCACGAGCCACCGTGCCTGGCCTATTTTTTTAATATTTTTAAAGATTTGTAAAACAAAGAAGCATGTATGGACCACAAAGCCTAGTACTACCTGGCTCTTTACCAAAAAAAAAAAAAAAAAAATTGCCACATCCAGGTCAGTAGAACATAAATTATGTAAAAACTTGATCACTACACATTTAGTGATTTTGCTGAAATCAACACAAAAAAAA)$ MESVSESSQQQKRKPVIHGLEDQKRIYTDWANHYLAKSGHKRLIRDLQQDVTDGVLLAQIIQVVANEKIEDINGCPKNRSQMIENIDACLNFLAAKGINIQGLSAEEIRNGNLKAILGLFFSLSRYKQQQQQPQKQHLSSPLPPAVSQVAGAPSQCQAGTPQQQVPVTPQAPCQPHQPAPHQQSKAQAEMQSRLPGPTARVSAAGSEAKTRGGSTTANNRRSQSFNNYDKSKPVTSPPPPPSSHEKEPLASSASSHPGMSDNAPASLESGSSSTPTNCSTSSAIPQPGAATKPWRSKSLSVKHSATVSMLSVKPPGPEAPRPTPEAMKPAPNNQKSMLEKLKLFNSKGGSKAGEGPGSRDTSCERLETLPSFEESEELEAASRMLTTVGPASSSPKIALKGIAQRTFSRALTNKKSSLKGNEKEKEKQQREKDKEKSKDLAKRASVTERLDLKEEPKEDPSGAAVPEMPKKSSKIASFIPKGGKLNSAKKEPMAPSHSGIPKPGMKSMPGKSPSAPAPSKEGERSRSGKLSSGLPQQKPQLDGRHSSSSSSLASSEGKGPGGTTLNHSISSQTVSGSVGTTQTTGSNTVSVQLPQPQQQYNHPNTATVAPFLYRSQTDTEGNVTAESSSTGVSVEPSHFTKTGQPALEELTGEDPEARRLRTVKNIADLRQNLEETMSSLRGTQVTHSTLETTFDTNVTTEMSGRSILSLTGRPTPLSWRLGQSSPRLQAGDAPSMGNGYPPRANASRFINTESGRYVYSAPLRRQLASRGSSVCHVDVSDKAGDEMDLEGISMDAPGYMSDGDVLSKNIRTDDITSGYMTDGGLGLYTRRLNRLPDGMAVVRETLQRNTSLGLGDADSWDDSSSVSSGISDTIDNLSTDDINTSSSISSYANTPASSRKNLDVQ|lqnlmmmfqkqtasplkaltlrrplsslfpqrqgnkwpplergrstvatqvatsklsma* 11BR030 ENSG00000135525.18 ENSG00000212226.1(90057),ENSG00000185477.5(15373) -/- ./+ chr6:136550342 chr4:89221010 CDS/splice-site intergenic translocation 0 3 0 37 8 medium out-of-frame . . . . ENSG00000135525.18 . ENST00000616617.4 . upstream upstream . ^(GGGAAATAGCGTCTCCGTACCCTCGCCCCACCTGGGCTGCTCCTCGGACCGCCGCTCGTCCCAGACTCCAGGAGGCGCCACCAGGCCTCGCTGACCCCGCTCCATATCTCCGGGAGCCCTCAGCTGGTCGGCCGCGGCGACCGGAAGCTCCGGACTGAGGTACTGGTTCCGCCCGCCGCTCTTCCAGCCGAGACTCGGCAGCGGCGGTCGGAGCGGCTGCCACGCCGCACCTGCCCGCGAGGGGGCGCGCCAGGCCCAGGCCGCAGCCGACTGCCGCGCTCTCTGTCCCCGCCCTCCGCCATCCCCGGACTGCGCTCACCTGTCTGGGCCGCTGGCCTGGGAGGCGGGGGCCGGCGGGAGCCAAGCCGAGGAAAGGGCGGAGCGGCTCTCCGGGCGC)GTCATCGGAGCACCATGGCGGAGCTAGGAGCTGGCGGCGACGGCCACAGGGGCGGCGACGGCGCAGTGCGAAGCGAAACAG|GCTCCAAGAAATGGAATTTTATTAAAAGATGGAAGAGGAGGATATTTGAGAGAAGGGGAACTACCTAATACTGAAAACTAATACAGTCCAGGATACATAGAAGATGATCAATAACACTTATTCAATCTAAATTACCCTATCAGCAAGTGGAG MAELGAGGDGHRGGDGAVRSET|gskkwnfikrwkrriferrgtt* 11BR030 ENSG00000126351.13 ENSG00000136444.10(15953),ENSG00000249451.1(1485) +/+ ./+ chr17:40063092 chr17:50501927 5'UTR/splice-site intergenic deletion 0 3 0 21 17 medium . . . . . ENSG00000126351.13 . ENST00000584985.5 . downstream upstream . ^(GAGGCGGCCTGCAGGGAGCAGCCGCGAGCCGGCCGGGCGCGCCGAGCCCGAGCCCCAGCCGGAGCGGGGCGGGGGAGGGAGGAGCCAGAGCGGCCGCCGCCTCTGCCGGAGGAGCCGCGGGGCCGCCACACTCGCCCCCCGCCCCCCCCGCGCTCACTCGCACTCACACCCGGGCGCAGGAGGCGGGCGGCCCGGGCCCCAC)CGGCCCCCCATGGACGCCCCCAGCACGGGGCGCTGAGACCCCCGCGTCGCTGCCCAGCCCGGTCCGGCGCGCCACGCCGAG|CCTCTGGAGGTCAGAAGTCTGAAATGGTCCAGGTGTCTGCAGAGCTGTGTTCCTTGTGGAGGCTCTAGGAGAGAATCTGCCTCTTGCCTTTTCCAGCTTCTTAAGGCTTGCGGCATGTCTTGGATCGGAGCCACACACTCTGACCTCCGCTTCCATTAGCACATTTCCCTCTCTGACGCTGACCCTTCTGCCGCCCTCTTGTAACG . 11BR030 ENSG00000047056.16 ENSG00000249675.1 +/+ -/- chr10:1080476 chr4:166523022 CDS/splice-site exon/splice-site translocation 0 3 0 27 5 medium out-of-frame . . . . ENSG00000047056.16 ENSG00000249675.1 ENST00000358220.5 ENST00000514134.1 downstream downstream mismatches(1) ^(AGAACGATGGCCTTTCTGCGGTGTCTGCGACCGGGACCAAGGCGGAGCAAAGTCGCCGGGGGTGTGGGGTGTTCCACGCTATGTTGGGAGTGTTCGCTTTCGAG___CTTATTGCAGGAGTGACCAGGACACTACCTCCTAGAAGTAATGCCCACAGAAAGCGCAAGTTGTTCGACTGCTCGCCAAACAAAACAGAAGCGCAAATCCCATAGCCTTTCTATACGAAGAACTAACAGCTCGGAGCAGGAGAGGACGGGACTGCCAAGAGACATGTTAGAAGGACAA___GATTCTAAACTGCCTTCCTCGGTTCGCAGTACACTTCTGGAACTGTTTGGTCAAATAGAAAGAGAATTTGAAAACCTTTATATCGAAAACTTAGAAT___TACGTAGAGAAATCGACACTCTTAATGAACGTTTAGCTG)CTGAAGGACtAGCGATTGATGGAGCAGAGCTGAGTAAGGGCCAACTCAAAACAAAAG___CCAGTCACAGCACCAGCCAGCTCTCCCAGAAACTGAAGACCACTTACAAGGCTTCCACCAGCAAG|GGCTTCCGAGGCGATtGGGCAGCGTCAGTCTTCAGCCGCTAAGCCGAGAAGATCTGGGAAGGAGTCAGTCAGAGAGCCTTGGGCCAGAGTTCCAGGGGCTCTGGGAGTGGCTGCCAG___AGGAAGATACTGAGGGTAAGAAGTTGAGCAGCCCCCTAGAAGTCACAGATTTG(___GTTTTGTCACTGAAGAACTAAATGTAAGTAGGTATATGTACACAGCACAATGATAGTATCTGCTCAAAACTGTATTTGGTAATAGCCATATTGCTCTCTTGAGCAAAAATTTTAGCCATGCCTAACAACACTAATTTGCCAGAAACATTCTAAAGATCGATTAAATGTATCAAAACATTTGGAGCCTAGTTGATATATGTGATTATGAGTTAATTTAAACTATTACAGAATAACAACACTGGTTTTTAACAATACAAATAAAGCAAAAATGTACACAACAGCATTTTATAAACCAAAATCAAAGTGGTGGTCTAATTTGGTGTGGCCTGTGTTAAAGCTTCATTCAGAACTCCAAAGAGAGAAAGTATTTGGTATCATTCTAAAAAACCGGGCACTATATACTTGAGAGGAATAAAACCTGGAAAGCAGGCAGATAACAAACTTATTTATTCAATTATTTATCTAATAAATGTCTATTAAATAACTTCTTCGTGCTTGGGAAACATTTAAATATCAAACCGATCAATAAGACACACAAAAACTCCTATCCTTTGGAGTGTAAATGCTACTGAGGGGACTGCCCAAAAACTAGGAATATAATTAATATTAAATTAAGTAGTATGATAGAAGATGATGTGAGCAATGCAAAAACTAGAGAAAAGTAACGGGGATTAGAAGTGCCAGGTAAGTGTGTGCAGAAATTTTGGCCATATGACAATTTAAATAGAA)$ MPTESASCSTARQTKQKRKSHSLSIRRTNSSEQERTGLPRDMLEGQDSKLPSSVRSTLLELFGQIEREFENLYIENLELRREIDTLNERLAAEGlAIDGAELSKGQLKTKASHSTSQLSQKLKTTYKASTSK|gfrgdwaasvfsr* 11BR030 ENSG00000184588.18 ENSG00000260392.6 +/+ -/- chr1:66332620 chr15:56543812 CDS/splice-site exon/splice-site translocation 2 0 0 68 4 medium out-of-frame . . . . ENSG00000184588.18 ENSG00000260392.6 ENST00000329654.8 ENST00000562300.5 downstream downstream mismappers(1) ^(GTAATCCTTCAGCTCTGGTGGTAAGGGAGATGCAGTGAGCTCCCGGCTGGGAGAGAGGGTTATTTTGCAAAACTCCCCTGGTACCGTGCCCGCGGAATATTGCAGGAGGTCTGTGAG___GTATTAAAAAGTGTCAGCAAACTGCATTGAATAACAGACATCCTAAGAGGGGATATTTTCCACCTCTATAATGAAGAAAAGCAGGAGTGTGATGACGGTGATGGCTGATGAT___AATGTTAAAGATTATTTTGAATGTAGCTTGAGTAAATCCTACAGTTCTTCCAGTAACACACTTGGGATCGACCTCTGGAGAGGGAGAAGGTGTTGCTCAGGAAACTTACAGTTACCACCACTGTCTCAAAGACAGAGTGAAAGGGCAAGGACTCCTGAGGGAGATGGTATTTCCAGGCCGACCACACTGCCTTTGACAACGCTTCCAAGCATTGCTATTACAACTGTAAGCCAGGAGTG___CTTTGATGTGGAAAATGGCCCTTCCCCAGGTCGGAGTCCACTGGATCCCCAGGCCAGCTCTTCCGCTGGGCTGGTACTTCACGCCACCTTTCCTGGGCACAGCCAGCGCAGAGAGTCATTTCTCTACAGATCAGACAGCGACTATGACTTGTCACCAAAGGCGATGTCGAGAAACTCTTCTCTTCCAAGCGAGCA___ACACGGCGATGACTTGATTGTAACTCCTTTTGCCCAG___GTCCTTGCCAGCTTGCGAAGTGTGAGAAACAACTTCACTATACTGACAAACCTTCATGGTACATCTAACAA___GAGGTCCCCAGCTGCTAGTCAGCCTCCTGTCTCCAGAGTCAACCCACAAG___AAGA)ATCTTATCAAAAATTAGCAATGGAAACGCTGGAGGAATTAGACTGGTGTTTAGACCAGCTAGAGACCATACAGACCTACCGGTCTGTCAGTGAGATGGCTTCTAACAAG|AAACCATGCAAGCAAGAAAAGCATGTGGTGAAATATTTAAAGAATTGAAAGGAAAAAAAAATCTACCTAGAAGTTTGTACCCAGTGAAATTATCCTCCAAAAGTGAAGG(AAAAATAAAGACTTTATCAGAAAAAAGAATTGATGTAGACCTACCTTGCAAAGAAGGATTACAAGAAGTTCTTCAGAGAGGAGGAAAATGGTGTAGGTCAGAAACTTGGGTCTGCATAAGCAACAGGGAGCATCAGGAAAGAAGT___TAGGTTGTCAATAAAAGAGCCACGAGAGAGAGAGAAGAGAACTTGAAGAGACAATAAAGGACACAATTTGCTGCTTTCTGAATCACTGATGAATCTGAGTCAGTTAAGGTATAAATGCTTCAAAAATAAATAGTATGAATGGCAA)$ MKKSRSVMTVMADDNVKDYFECSLSKSYSSSSNTLGIDLWRGRRCCSGNLQLPPLSQRQSERARTPEGDGISRPTTLPLTTLPSIAITTVSQECFDVENGPSPGRSPLDPQASSSAGLVLHATFPGHSQRRESFLYRSDSDYDLSPKAMSRNSSLPSEQHGDDLIVTPFAQVLASLRSVRNNFTILTNLHGTSNKRSPAASQPPVSRVNPQEESYQKLAMETLEELDWCLDQLETIQTYRSVSEMASNK|kpckqekhvvkylkn* 11BR030 ENSG00000117151.13 ENSG00000117569.18(43699),ENSG00000188641.14(210306) -/- ./+ chr1:84563257 chr1:96867437 CDS/splice-site intergenic inversion 0 2 0 134 4 medium out-of-frame . Glycosyl_hydrolases_family_18(100%)| . . ENSG00000117151.13 . ENST00000370630.6 . upstream upstream duplicates(1) ^(ACTCCGGCCCGCTAGACCTGCTGCTATGTCCCGGCCGCAGCTTCGACGCTGGCGCCTCGTCTCTAGCCCGCCGAGCGGCGTCCCGGGTCTAGCGCTGCTGGCGCTGCTGGCGCTGCTGGCGCTGCGGCTCGCGGCCGGGACCGACTGCCCATGCCCGGAGCCTGAGCTCTGCCGCCCGATTCGCCACCATCCAGATTTCGAG___GTCTTTGTGTTTGATGTTGGACAGAAAACTTGGAAATCTTATGATTGGTCACAGATTACAACTGTGGCAACATTTGGAAAATATGACTCAGAACTTATGTGCTACGCTCATTCAAAAGGAGCCAGAGTAGTACTTAAAG___GAGATGTATCCTTAAAGGATATCATTGATCCTGCTTTCAGAGCATCCTGGATAGCTCAAAAACTTAATTTGGCCAAAACACAATATATGGATGGAATTAATATAGATATAGAGCAAGAAGTTAATTGTTTATCACCTGAATATGATGCATTAACTGCTTTAGTCAAAGAAACTACAGACTCTTTCCATCGTGAAATTGAGGGATCACAG___GTAACCTTTGATGTAGCTTGGTCTCCAAAGAACATAGACAGAAGATGCTATAATTATACTGGAATCGCAGATGCTTGTGACTTCCTCTTTGTGATGTCTTATGATGAACAAAGTCAGATCTGGTCAGAATGTATTGCAGCAGCCAATGCTCCCTATAATCAGACATTAACTG___GATATAATGACTACATCAAGATGAGCATTAATCCTAAGAAACTTGTAATGGGTGTTCCTTGGTATGGTTATGATTATACCTGCCTGAATCTGTCTGAG___GATCATGTTTGTACCATTGCAAAAGTCCCTTTCCGGGGGGCTCCTTGTAGTGACGCT)GCAGGACGTCAGGTGCCCTACAAAACGATCATGAAGCAAATAAATAGTTCTATTTCTGGAAACCTATGGGATAAAGATCAGCGGGCTCCTTATTATAACTATAAA|AACAGAAGCTGATGTTCAGAGAGGTAAATATCCTTCAGCAAGGAGGTCCAAGGTCCTTCAGCAAGGAGGAGATAGAGACAAGACTGTACTCAAGTCTTTTATTTTTTCCTACTTTATGATAATGCCTTTACTCCAGCATCAGAACATATTCTTCAACAGAG MSRPQLRRWRLVSSPPSGVPGLALLALLALLALRLAAGTDCPCPEPELCRPIRHHPDFEVFVFDVGQKTWKSYDWSQITTVATFGKYDSELMCYAHSKGARVVLKGDVSLKDIIDPAFRASWIAQKLNLAKTQYMDGINIDIEQEVNCLSPEYDALTALVKETTDSFHREIEGSQVTFDVAWSPKNIDRRCYNYTGIADACDFLFVMSYDEQSQIWSECIAAANAPYNQTLTGYNDYIKMSINPKKLVMGVPWYGYDYTCLNLSEDHVCTIAKVPFRGAPCSDAAGRQVPYKTIMKQINSSISGNLWDKDQRAPYYNYK|nrs* 11BR030 ENSG00000109320.13 ENSG00000087303.18 +/+ -/- chr4:102593568 chr14:52042931 CDS/splice-site CDS/splice-site translocation 2 0 0 43 42 medium in-frame . Rel_homology_DNA-binding_domain(100%),Rel_homology_dimerisation_domain(100%)|Calcium-binding_EGF_domain(100%),Complement_Clr-like_EGF-like(100%),EGF_domain(100%),G2F_domain(100%),Low-density_lipoprotein_receptor_repeat_class_B(100%),Thyroglobulin_type-1_repeat(100%) . . ENSG00000109320.13 ENSG00000087303.18 ENST00000226574.9 ENST00000216286.10 downstream downstream . ^(GAAGTGCACCAGCGAGCCGGGGCAGGAAGAGGAGGTTTCGCCACCGGAGCGGCCCGGCGACGCGCTGACAGCTTCCCCTGCCCTTCCCGTCGGTCGGGCCGCCAGCCGCCGCAGCCCTCGGCCTGCACGCAGCCACCGGCCCCGCTCCCGGAGCCCAGCGCCGCCGAGGCCGCAGCCGCCCGGCCAGTAAGGCGGCGCCGCCGCCCGGCCACCGCGCGCCCTGCGCTTCCCTCCGCCCGCGCTGCGGCCATGGCGCGGCGCTGACTGGCCTGGCCCGGCCCCGCCGCGCTCCCGCTCGCCCCGACCCGCACTCGGGCCCGCCCGGGCTCCGGCCTGCCGCCGCCTCTTCCTTCTCCAGCCGGCAGGCCCGCGCCGCTTAGGAGGGAGAGCCCACCCGCGCCAGGAGGCCGAACGCGGACTCGCCACCCGG___CTTCAGAATGGCAGAAGATGATCCATATTTGGGAAGGCCTGAACAA___ATGTTTCATTTGGATCCTTCTTTGACTCATACAATATTTAATCCAGAAGTATTTCAACCACAGATGGCACTGCCAACAG___CAGATGGCCCATACCTTCAAATATTAGAGCAACCTAAACAG___AGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAA___ATCTGCAACTATGTGGGACCAGCAAAGGTTATTGTTCAGTTGGTCACAAATGGAAAAAATATCCACCTGCATGCCCACAGCCTGGTGGGAAAACACTGTGAGGATGGGATCTGCACTGTAACTGCTGGACCCAAGGACATGGTGGTCGG___CTTCGCAAACCTGGGTATACTTCATGTGACAAAGAAAAAAGTATTTGAAACACTGGAAGCACGAATGACAGAGGCGTGTATAAGGGGCTATAATCCTGGACTCTTGGTGCACCCTGACCTTGCCTATTTGCAAGCAGAAGGTGGAGGGGACCGGCAGCTGGGAG___ATCGGGAAAAAGAGCTAATCCGCCAAGCAGCTCTGCAGCAGACCAAGGAGATGGACCTCAGCGTGGTGCGGCTCATGTTTACAGCTTTTCTTCCGGATAGCACTGGCAGCTTCACAAGGCGCCTGGAACCCGTGGTATCAGACGCCATCTATGACAGTA___AAGCCCCCAATGCATCCAACTTGAAAATTGTAAGAATGGACAGGACAGCTGGATGTGTGACTGGAGGGGAGGAAATTTATCTTCTTTGTGACAAAGTTCAGAAAG___ATGACATCCAGATTCGATTTTATGAAGAGGAAGAAAATGGTGGAGTCTGGGAAGGATTTGGAGATTTTTCCCCCACAGATGTTCATAGACAA___TTTGCCATTGTCTTCAAAACTCCAAAGTATAAAGATATTAATATTACAAAACCAGCCTCTGTGTTTGTCCAGCTTCGGAGGAAATCTGACTTGGAAACTAGTGAACCAAAACCTTTCCTCTACTATCCTGAAATCAAAG___ATAAAGAAGAAGTGCAGAGGAAACGTCAGAAGCTCATGCCCAATTTTTCGGATAGTTTCGG)CGGTGGTAGTGGTGCcGGAGCTGGAGGCGGAGGCATGTTTGGTAGTGGCGGTGGAGGAGGGGGCACTGGAAGTACAGGTCCAG|TCTTCACGTATAATGCTGCCAACAAGGAAACCTGTGAACACAACCACA(GACAATGCTCCCGGCATGCCTTCTGCACGGACTATGCCACTGGCTTCTGCTGCCACTGCCAATCCAAGTTTTATGGAAATGGGAAGCACTGTCTGCCTGAAG___GGGCACCTCACCGAGTGAATGGGAAAGTGAGTGGCCACCTCCACGTGGGCCATACACCCGTGCACTTCACTGATGTGGACCTGCATGCGTATATCGTGGGCAATGATGGCAGAGCCTACACGGCCATCAGCCACATCCCACAGCCAGCAGCCCAGGCCCTCCTCCCCCTCACACCAATTGGAGGCCTGTTTGGCTGGCTCTTTGCTTTAGAAAAACCTGGCTCTGAGAACGGCTTCAGCCTCGCAG___GTGCTGCCTTTACCCATGACATGGAAGTTACATTCTACCCGGGAGAGGAGACGGTTCGTATCACTCAAACTGCTGAGGGACTTGACCCAGAGAACTACCTGAGCATTAAGACCAACATTCAAGGCCAGGTGCCTTACGTCTCAGCAAATTTCACAGCCCACATCTCTCCCTACAAGGAGCTGTACCACTACTCCGACTCCA___CTGTGACCTCTACAAGTTCCAGAGACTACTCTCTGACTTTTGGTGCAATCAACCAAACATGGTCCTACCGCATCCACCAGAACATCACTTACCAGGTGTGCAGGCACGCCCCCAGACACCCGTCCTTCCCCACCACCCAGCAGCTGAACGTGGACCGGGTCTTTGCCTTGTATAATGACGAAGAAAGAGTGCTTAGATTTGCTGTGACCAATCAAATTGGCCCGGTCAAAG___AGGATTCAGACCCCACTCCGGGGAATCCTTGCTATGATGGGAGCCACATGTGTGACACAACAGCACGGTGCCATCCAGGGACAGGTGTAGATTACACCTGTGAGTGCGCATCTGGGTACCAGGGAGATGGACGGAACTGTGTGG___ATGAAAATGAATGTGCAACTGGCTTTCATCGCTGTGGCCCCAACTCTGTATGTATCAACTTGCCTGGAAGCTACAGGTGTGAGTGCCGGAGTGGTTATGAGTTTGCAGATGACCGGCATACTTGCATCT___TGATCACCCCACCTGCCAACCCCTGTGAGGATGGCAGTCATACCTGTGCTCCTGCTGGGCAGGCCCGGTGTGTTCACCATGGAGGCAGCACGTTCAGCTGTGCCTGCCTGCCTGGTTATGCCGGCGATGGGCACCAGTGCACTG___ATGTAGATGAATGCTCAGAAAACAGATGTCACCCTGCAGCTACCTGCTACAATACTCCTGGTTCCTTCTCCTGCCGTTGTCAACCCGGATATTATGGGGATGGATTTCAGTGCATACCTG___ACTCCACCTCAAGCCTGACACCCTGTGAACAACAGCAGCGCCATGCCCAGGCCCAGTATGCCTACCCTGGGGCCCGGTTCCACATCCCCCAATGCGACGAGCAGGGCAACTTCCTGCCCCTACAGTGTCATGGCAGCACTGGTTTCTGCTGGTGCGTGGACCCTGATGGTCATGAAGTTCCTGGTACCCAGACTCCACCTGGCTCCACCCCGCCTCACTGTGGACCATCACCAG___AGCCCACCCAGAGGCCCCCGACCATCTGTGAGCGCTGGAGGGAAAACCTGCTGGAGCACTACGGTGGCACCCCCCGGGATGACCAGTACGTGCCCCAGTGCGATGACCTGGGCCACTTCATCCCCCTGCAGTGCCACGGAAAGAGCGACTTCTGCTGGTGTGTGGACAAAGATGGCAGAGAGGTGCAGGGCACCCGCTCCCAGCCAGGCACCACCCCTGCGT___GTATACCCACCGTCGCTCCACCCATGGTCCGGCCCACGCCCCGGCCAGATGTGACCCCTCCATCTGTGGGCACCTTCCTGCTCTATACTCAGGGCCAGCAGATTGGCTACTTACCCCTCAATGGCACCAGGCTTCAGAAGGATGCAGCTAAGACCCTGCTGTCTCTGCAT___GGCTCCATAATCGTGGGAATTGATTACGACTGCCGGGAGAGGATGGTGTACTGGACAGATGTTGCTGGACGGACAATCAGCCGTGCTGGTCTGGAACTGGGAGCAGAGCCTGAGACGATCGTGAATTCAG___GTCTGATAAGCCCTGAAGGACTTGCCATAGACCACATCCGCAGAACAATGTACTGGACGGACAGTGTCCTGGATAAGATAGAGAGCGCCCTGCTGGATGGCTCTGAGCGCAAGGTCCTCTTCTACACAGATCTGGTGAATCCCCGTGCCATCGCTGTGGATCCAATCCGAGG___CAACTTGTACTGGACAGACTGGAATAGAGAAGCTCCTAAAATTGAAACGTCATCTTTAGATGGAGAAAACAGAAGAATTCTGATCAATACAGACATTGGATTGCCCAATGGCTTAACCTTTGACCCTTTCTCTAAACTGCTCTGCTGGGCAGATGCAG___GAACCAAAAAACTGGAGTGTACACTACCTGATGGAACTGGACGGCGTGTCATTCAAAACAACCTCAAGTACCCCTTCAGCATCGTAAGCTATGCAGATCACTTCTACCACACAGACTGGAGGAG___GGATGGTGTTGTATCAGTAAATAAACATAGTGGCCAGTTTACTGATGAGTATCTCCCAGAACAACGATCTCACCTCTACGGGATAACTGCAGTCTACCCCTACTGCCCAACAG___GAAGAAAGTAAGTACAGTAATGTAAAGGAAGACTTGGAGTTTACAATCAGAACCTGGACCCTAAAGAACAGTGACTGCAAAGGCAAAGAAAGTAAAAAAGGAATTGGCCATTAGACGTTCCTGAGCATCCAAGATGAACATTTTGTAGTGCAAAAAGACTTTTGTGAAAAGCTGATACCTCAATCTTTACTACTGTATTTTTAAAAATGAAGGTTGTTATTGCAAGTTTAAAAAGGTAACAGAATTTTAACTGTTGCTTATTAAAGCAACTTCTTGTAAACATTTATCATTAATATTTAAAAGATCAAATTCATTCAACTAAGAATTAGAGTTTAAGACTCTAAACCTGATTTTTGCCATGGATTCCTTCTGGCCAAGAAATTAAAGCACATGTGATCAATATAACAATATAATCCTAAACCTTGACAGTTGGAGAAGCCAATGCAGAACTGATGGGAAAGGACCAATTATTTATAGTTTCCCAACAAAAGTTCTAAGATTTTTTACCTCTGCATCAGTGCATTTCTATTTATATCAAAAGGTGCTAAAATGATTCAATTTGCATTTTCTGATCCTGTAGTGCCTCTATAGAAGTACCCACAGAAAGTAAAGTATCACATTTATAAATACCAAAGATGTAACAATTTTAAAATTTTCTAGATTACTCCAATAAAGTGTTTTAAGTTTT)$ MAEDDPYLGRPEQMFHLDPSLTHTIFNPEVFQPQMALPTADGPYLQILEQPKQRGFRFRYVCEGPSHGGLPGASSEKNKKSYPQVKICNYVGPAKVIVQLVTNGKNIHLHAHSLVGKHCEDGICTVTAGPKDMVVGFANLGILHVTKKKVFETLEARMTEACIRGYNPGLLVHPDLAYLQAEGGGDRQLGDREKELIRQAALQQTKEMDLSVVRLMFTAFLPDSTGSFTRRLEPVVSDAIYDSKAPNASNLKIVRMDRTAGCVTGGEEIYLLCDKVQKDDIQIRFYEEEENGGVWEGFGDFSPTDVHRQFAIVFKTPKYKDINITKPASVFVQLRRKSDLETSEPKPFLYYPEIKDKEEVQRKRQKLMPNFSDSFGGGSGAGAGGGGMFGSGGGGGGTGSTGP|vFTYNAANKETCEHNHRQCSRHAFCTDYATGFCCHCQSKFYGNGKHCLPEGAPHRVNGKVSGHLHVGHTPVHFTDVDLHAYIVGNDGRAYTAISHIPQPAAQALLPLTPIGGLFGWLFALEKPGSENGFSLAGAAFTHDMEVTFYPGEETVRITQTAEGLDPENYLSIKTNIQGQVPYVSANFTAHISPYKELYHYSDSTVTSTSSRDYSLTFGAINQTWSYRIHQNITYQVCRHAPRHPSFPTTQQLNVDRVFALYNDEERVLRFAVTNQIGPVKEDSDPTPGNPCYDGSHMCDTTARCHPGTGVDYTCECASGYQGDGRNCVDENECATGFHRCGPNSVCINLPGSYRCECRSGYEFADDRHTCILITPPANPCEDGSHTCAPAGQARCVHHGGSTFSCACLPGYAGDGHQCTDVDECSENRCHPAATCYNTPGSFSCRCQPGYYGDGFQCIPDSTSSLTPCEQQQRHAQAQYAYPGARFHIPQCDEQGNFLPLQCHGSTGFCWCVDPDGHEVPGTQTPPGSTPPHCGPSPEPTQRPPTICERWRENLLEHYGGTPRDDQYVPQCDDLGHFIPLQCHGKSDFCWCVDKDGREVQGTRSQPGTTPACIPTVAPPMVRPTPRPDVTPPSVGTFLLYTQGQQIGYLPLNGTRLQKDAAKTLLSLHGSIIVGIDYDCRERMVYWTDVAGRTISRAGLELGAEPETIVNSGLISPEGLAIDHIRRTMYWTDSVLDKIESALLDGSERKVLFYTDLVNPRAIAVDPIRGNLYWTDWNREAPKIETSSLDGENRRILINTDIGLPNGLTFDPFSKLLCWADAGTKKLECTLPDGTGRRVIQNNLKYPFSIVSYADHFYHTDWRRDGVVSVNKHSGQFTDEYLPEQRSHLYGITAVYPYCPTGRK* 11BR030 ENSG00000112379.9 ENSG00000087303.18 +/+ -/- chr6:138245591 chr14:52068163 CDS/splice-site CDS/splice-site translocation 0 2 0 31 42 medium out-of-frame . Dimerisation_and_cyclophilin-binding_domain_of_Mon2(100%)|Calcium-binding_EGF_domain(100%),Complement_Clr-like_EGF-like(100%),EGF_domain(100%),G2F_domain(100%),Low-density_lipoprotein_receptor_repeat_class_B(100%),Nidogen-like(100%),Thyroglobulin_type-1_repeat(100%) . . ENSG00000112379.9 ENSG00000087303.18 ENST00000251691.5 ENST00000617139.4 downstream downstream . ^(GTGATTCATCAGCATCCGCGCCGGGGCGGCATGGGGGCGCGCGCGGCGGCCGCCTAGGCGCCCAGGGCCAGGCAGCGGCGGCTTCCCCGGCCCGGCTCGCCCGCGCTTCTCTCCCTGTGGGCGGCGGCCCGGCGCCTGGAAGGTCAAGATGGAAGAAATCCTGAGGAAGCTGCAGAAGGAGGCGTCCGGGAGCAAGTACAAAGCCATCAAGGAGAGCTGCACCTGGGCCCTGG___AAACTCTAGGTGGTCTGGATACCATTGTCAAGATCCCTCCACATGTACTGAG___GGAGAAATGCCTGCTGCCTCTCCAGTTGGCTTTGGAATCCAAGAATGTGAAGCTGGCCCAACATGCTTTGGCAGGGATGCAG___AAGCTTCTGTCGGAAGAGAGGTTTGTATCCATGGAAACAGATTCTGATGAGAAGCAGCTGCTCAATCAGATACTGAATGCCGTGAAAGTGACGCCTTCGCTCAACGAGGACCTGCAGGTGGAAGTGATGAAG___GTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAG___GTGTGCATTGAGACGTACATAAGCAGCTGTCACCAGCGTAGCATAAACACTGCTGTGCGGGCAACTCTCAGTCAAATGCTGAGTGACTTGACTTTACAGTTACGACAGAGGCAGGAGAATACG___ATAATTGAAAA)CCCAGATGTCCCACAGGATTTCGGGAATCAAG___GGTCAACAGTAGAGTCCCTCTGTGATGATGTTGTCTCTGTACTCACCGTCCTGTGTGAGAAGCTGCAAGCCGCCATAAA|GTGGGCACCAACGGCATCATCTCCACTCAGGACTTCCCCAGGGAAACGCAGTATGTGGACTATGATTTCCCCACCGACTTCCCGGCCATCGCCCCTTTTCTGGCGGACATCGAC(ACGAGCCACGGCAGAGGCCGAGTCCTGTAC___CGAGTGAATGGGAAAGTGAGTGGCCACCTCCACGTGGGCCATACACCCGTGCACTTCACTGATGTGGACCTGCATGCGTATATCGTGGGCAATGATGGCAGAGCCTACACGGCCATCAGCCACATCCCACAGCCAGCAGCCCAGGCCCTCCTCCCCCTCACACCAATTGGAGGCCTGTTTGGCTGGCTCTTTGCTTTAGAAAAACCTGGCTCTGAGAACGGCTTCAGCCTCGCAG___GTGCTGCCTTTACCCATGACATGGAAGTTACATTCTACCCGGGAGAGGAGACGGTTCGTATCACTCAAACTGCTGAGGGACTTGACCCAGAGAACTACCTGAGCATTAAGACCAACATTCAAGGCCAGGTGCCTTACGTCTCAGCAAATTTCACAGCCCACATCTCTCCCTACAAGGAGCTGTACCACTACTCCGACTCCA___CTGTGACCTCTACAAGTTCCAGAGACTACTCTCTGACTTTTGGTGCAATCAACCAAACATGGTCCTACCGCATCCACCAGAACATCACTTACCAGGTGTGCAGGCACGCCCCCAGACACCCGTCCTTCCCCACCACCCAGCAGCTGAACGTGGACCGGGTCTTTGCCTTGTATAATGACGAAGAAAGAGTGCTTAGATTTGCTGTGACCAATCAAATTGGCCCGGTCAAAG___AGGATTCAGACCCCACTCCGGGGAATCCTTGCTATGATGGGAGCCACATGTGTGACACAACAGCACGGTGCCATCCAGGGACAGGTGTAGATTACACCTGTGAGTGCGCATCTGGGTACCAGGGAGATGGACGGAACTGTGTGG___ATGAAAATGAATGTGCAACTGGCTTTCATCGCTGTGGCCCCAACTCTGTATGTATCAACTTGCCTGGAAGCTACAGGTGTGAGTGCCGGAGTGGTTATGAGTTTGCAGATGACCGGCATACTTGCATCT___TGATCACCCCACCTGCCAACCCCTGTGAGGATGGCAGTCATACCTGTGCTCCTGCTGGGCAGGCCCGGTGTGTTCACCATGGAGGCAGCACGTTCAGCTGTGCCTGCCTGCCTGGTTATGCCGGCGATGGGCACCAGTGCACTG___ATGTAGATGAATGCTCAGAAAACAGATGTCACCCTGCAGCTACCTGCTACAATACTCCTGGTTCCTTCTCCTGCCGTTGTCAACCCGGATATTATGGGGATGGATTTCAGTGCATACCTG___ACTCCACCTCAAGCCTGACACCCTGTGAACAACAGCAGCGCCATGCCCAGGCCCAGTATGCCTACCCTGGGGCCCGGTTCCACATCCCCCAATGCGACGAGCAGGGCAACTTCCTGCCCCTACAGTGTCATGGCAGCACTGGTTTCTGCTGGTGCGTGGACCCTGATGGTCATGAAGTTCCTGGTACCCAGACTCCACCTGGCTCCACCCCGCCTCACTGTGGACCATCACCAG___AGCCCACCCAGAGGCCCCCGACCATCTGTGAGCGCTGGAGGGAAAACCTGCTGGAGCACTACGGTGGCACCCCCCGGGATGACCAGTACGTGCCCCAGTGCGATGACCTGGGCCACTTCATCCCCCTGCAGTGCCACGGAAAGAGCGACTTCTGCTGGTGTGTGGACAAAGATGGCAGAGAGGTGCAGGGCACCCGCTCCCAGCCAGGCACCACCCCTGCGT___GTATACCCACCGTCGCTCCACCCATGGTCCGGCCCACGCCCCGGCCAGATGTGACCCCTCCATCTGTGGGCACCTTCCTGCTCTATACTCAGGGCCAGCAGATTGGCTACTTACCCCTCAATGGCACCAGGCTTCAGAAGGATGCAGCTAAGACCCTGCTGTCTCTGCAT___GGCTCCATAATCGTGGGAATTGATTACGACTGCCGGGAGAGGATGGTGTACTGGACAGATGTTGCTGGACGGACAATCAGCCGTGCTGGTCTGGAACTGGGAGCAGAGCCTGAGACGATCGTGAATTCAG___GTCTGATAAGCCCTGAAGGACTTGCCATAGACCACATCCGCAGAACAATGTACTGGACGGACAGTGTCCTGGATAAGATAGAGAGCGCCCTGCTGGATGGCTCTGAGCGCAAGGTCCTCTTCTACACAGATCTGGTGAATCCCCGTGCCATCGCTGTGGATCCAATCCGAGG___CAACTTGTACTGGACAGACTGGAATAGAGAAGCTCCTAAAATTGAAACGTCATCTTTAGATGGAGAAAACAGAAGAATTCTGATCAATACAGACATTGGATTGCCCAATGGCTTAACCTTTGACCCTTTCTCTAAACTGCTCTGCTGGGCAGATGCAG___GAACCAAAAAACTGGAGTGTACACTACCTGATGGAACTGGACGGCGTGTCATTCAAAACAACCTCAAGTACCCCTTCAGCATCGTAAGCTATGCAGATCACTTCTACCACACAGACTGGAGGAG___GGATGGTGTTGTATCAGTAAATAAACATAGTGGCCAGTTTACTGATGAGTATCTCCCAGAACAACGATCTCACCTCTACGGGATAACTGCAGTCTACCCCTACTGCCCAACAG___GAAGAAAGTAAGTACAGTAATGTAAAGGAAGACTTGGAGTTTACAATCAGAACCTGGACCCTAAAGAACAGTGACTGCAAAGGCAAAGAAAGTAAAAAAGGAATTGGCCATTAGACGTTCCTGAGCATCCAAGATGAACATTTTGTAGTGCAAAAAGACTTTTGTGAAAAGCTGATACCTCAATCTTTACTACTGTATTTTTAAAAATGAAGGTTGTTATTGCAAGTTTAAAAAGGTAACAGAATTTTAACTGTTGCTTATTAAAGCAACTTCTTGTAAACATTTATCATTAATATTTAAAAGATCAAATTCATTCAACTAAGAATTAGAGTTTAAGACTCTAAACCTGATTTTTGCCATGGATTCCTTCTGGCCAAGAAATTAAAGCACATGTGATCAATATAACAATATAATCCTAAACCTTGACAGTTGGAGAAGCCAATGCAGAACTGATGGGAAAGGACCAATTATTTATAGTTTCCCAACAAAAGTTCTAAGATTTTTTACCTCTGCATCAGTGCATTTCTATTTATATCAAAAGGTGCTAAAATGATTCAATTTGCATTTTCTGATCCTGTAGTGCCTCTATAGAAGTACCCACAGAAAGTAAAGTATCACATTTATAAATACCAAAGATGTAACAATTTTAAAATTTTCTAGATTACTCCAATAAAGTGTTTTAAGTTTTCCTATG)$ MEEILRKLQKEASGSKYKAIKESCTWALETLGGLDTIVKIPPHVLREKCLLPLQLALESKNVKLAQHALAGMQKLLSEERFVSMETDSDEKQLLNQILNAVKVTPSLNEDLQVEVMKVLLCITYTPTFDLNGSAVLKIAEVCIETYISSCHQRSINTAVRATLSQMLSDLTLQLRQRQENTIIENPDVPQDFGNQGSTVESLCDDVVSVLTVLCEKLQAAIk|waptassplrtspgkrsmwtmispptsrpsplfwrtstrataeaescte* 11BR030 ENSG00000047056.16 ENSG00000226673.2(14735),ENSG00000237346.2(90905) +/+ ./+ chr10:1080477 chr6:14300189 intron intergenic translocation 2 0 0 27 0 medium out-of-frame . . . . ENSG00000047056.16 . ENST00000358220.5 . downstream upstream mismatches(1) ^(AGAACGATGGCCTTTCTGCGGTGTCTGCGACCGGGACCAAGGCGGAGCAAAGTCGCCGGGGGTGTGGGGTGTTCCACGCTATGTTGGGAGTGTTCGCTTTCGAG___CTTATTGCAGGAGTGACCAGGACACTACCTCCTAGAAGTAATGCCCACAGAAAGCGCAAGTTGTTCGACTGCTCGCCAAACAAAACAGAAGCGCAAATCCCATAGCCTTTCTATACGAAGAACTAACAGCTCGGAGCAGGAGAGGACGGGACTGCCAAGAGACATGTTAGAAGGACAA___GATTCTAAACTGCCTTCCTCGGTTCGCAGTACACTTCTGGAACTGTTTGGTCAAATAGAAAGAGAATTTGAAAACCTTTATAT)CGAAAACTTAGAAT___TACGTAGAGAAATCGACACTCTTAATGAACGTTTAGCTGCTGAAGGACAAGCGATTGATGGAGCAGAGCTGAGTAAGGGCCAACTCAAAACAAAAG___CCAGTCACAGCACCAGCCAGCTCTCCCAGAAACTGAAGACCACTTACAAGGCTTCCACCAGCAAGG|GCTTCCGAGGCGATTGGGCAGCGTCAGTCTTCAGCCGCTAAGCCGAGAAGATCTGGGAAG MPTESASCSTARQTKQKRKSHSLSIRRTNSSEQERTGLPRDMLEGQDSKLPSSVRSTLLELFGQIEREFENLYIENLELRREIDTLNERLAAEGQAIDGAELSKGQLKTKASHSTSQLSQKLKTTYKASTSK|gfrgdwaasvfsr* 11BR030 ENSG00000206672.1(62223),ENSG00000227706.4(193345) ENSG00000180879.14 ./+ +/+ chr6:67687687 chrX:153797460 intergenic CDS/splice-site translocation 0 2 0 0 1543 medium . . |Translocon-associated_protein__delta_subunit_precursor_(TRAP-delta)(100%) . . . ENSG00000180879.14 . ENST00000320857.7 downstream upstream . GAAATCCAAAAAAATAATAAAAAA|CATGGCTCTCTATGCTGACGTCGGTGGAAAACAATTCCCTGTCACTCGAGGCCAGGATGTGGGGCGTTATCAG___GTGTCCTGGAGCCTGGACCACAAGAGCGCCCACGCAGGCACCTATGAGGTTAGATTCTTCGACGAGGAGTCCTACAGCCTCCTCAGGAAG___GCTCAGAGGAATAACGAGGACATTTCCATCATCCCGCCTCTGTTTACAGTCAGCGTGGACCATCGG___GGCACTTGGAACGGGCCCTGGGTGTCCACTGAGGTGCTGGCTGCGGCGAT(CGGCCTTGTGATCTACTACTTGGCCTTCAGTGCGAAGAGCCACATCCAGGCCTGAGGGCGGCACCCCAGCCCTGCCCTTGCTTCCTTCAATAAACATCACAGGACCTGGGACTGCACAGG)$ . 11BR030 ENSG00000185238.13 ENSG00000165973.19 +/+ +/+ chr11:20392999 chr11:21570764 CDS/splice-site CDS/splice-site deletion 0 1 1 16 7 medium out-of-frame . |von_Willebrand_factor_type_C_domain(100%) . . ENSG00000185238.13 ENSG00000165973.19 ENST00000331079.11 ENST00000325319.9 downstream upstream . ^(AGACACGCCGGGCTCTCGGGGCACCACAGCCATGTGCTCGTTAGCGTCAGGCGCTACCG___GCGGCCGGGGCGCTGTGGAGAATGAGGAGGACCTGCCAGAACTGTCGGACAGCGGGGACGAGGCCGCCTGGGAGGATGAGGACGATGCAGATCTCCCCCACGGCAAGCAGCAGACCCCCTGCCTGTTCTGTAACAG___GTTATTCACATCTGCTGAAGAAACATTTTCACACTGTAAGTCTGAGCATCAGTTTAATATTGACAGCATGGTTCATAAACATG___GACTTGAATTTTATGGATACATTAAGCTAATAAATTTTATTAGACTTAAG___)AATCCTACAGTTGAGTACATGAATTCCATATACAACCCAGTGCCTTGGGAGAAAGAAGAGTATTTGAAGCCAGTATTAGAAGATGACCTTTTACTTCAATTTG|GATGGCAAGATATTCTGCCGACGGACAGCTTGTGATTGCCAGAATCCAAGTGCTGACCTATTCTGTTGCCCAGAATGTGACACCAGAGTCACAAGTCAATGTTTAGACCAAAATGGTCACAAGCTGTATCGAAGTGGAGAC(AATTGGACCCATAGCTGTCAGCAGTGTCGGTGTCTG___GAAGGAGAGGTAGATTGCTGGCCACTCACTTGCCCCAACTTGAGCTGTGAGTATACAGCTATCTTAGAAGGGGAATGTTGTCCCCGCTGTGTCAGTGACCCCTGCCTAGCTGATAACATCACCTATGACATCAGAAAAACTTGCCTGGACAGCTATGGTGTTTCACGGCTTAGTGGCTCAGTGTGGACGATGGCTGGATCTCCCTGCACAACCTGTAAATGCAAG___AATGGAAGAGTCTGTTGTTCTGTGGATTTTGAGTGTCTTCAAAATAATTGAAGTATTTACAGTGGACTCAACGCAGAAGAATGGACGAAATGACCATCCAACGTGATTAAGGATAGGAATCGGTAGTTTGGTTTTTTTGTTTGTTTTGTTTTTTTAACCACAGATAATTGCCAAAGTTTCCACCTGAGGACGGTGTTTGGAGGTTGCCTTTTGGACCTACCACTTTGCTCATTCTTGCTAACCTAGTCTAGGTGACCTACAGTGCCGTGCATTTAAGTCAATGGTTGTTAAAAGAAGTTTCCCGTGTTGTAAATCATGTTTCCCTTATCAGATCATTTGCAAATACATTTAAATGATCTCATGGTAAATGTTGATGTATTTTTTGGTTTATTTTGTGTACTAACATAATAGAGAGAGACTCAGCTCCTTTTATTTATTTTGTTGATTTATGGATCAAATTCTAAAATAAAGTTGCCTGTTGTGACTTTTGTCCCATCTACTGCATACTTAGTGCTGAGATCCCTGTAAAATGTTTTGATGAAAATATGTATGTAGAGTCCAGTCGCATTATACATACATTTCATAGTGCTGAACCTTCTTAAATGCCTACTCATTCAGCTTAAACAGGCTGAAGCCAAGTATGACAAAGAGGGGAAGGGCCAAAAACATAATCAAAGAATAATTTTAAAGAGAATTCTTGTCTCTCTTGC)$ MCSLASGATGGRGAVENEEDLPELSDSGDEAAWEDEDDADLPHGKQQTPCLFCNRLFTSAEETFSHCKSEHQFNIDSMVHKHGLEFYGYIKLINFIRLKNPTVEYMNSIYNPVPWEKEEYLKPVLEDDLLLQF|gwqdilptdsl* 11BR031 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 74 87 3 368 250 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(12),low_entropy(3),mismatches(4) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACAC)ATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR031 ENSG00000153066.12 ENSG00000153956.16 -/- -/+ chr16:11721577 chr7:82226346 CDS/splice-site intron translocation/5'-5' 28 37 5 189 128 high out-of-frame . Thioredoxin(100%)| . . ENSG00000153066.12 ENSG00000153956.16 ENST00000283033.9 . upstream upstream duplicates(2) ^(GGCGGACCCCGCGGCGGCGGCGCGGCTGACGTGGAGCGTCCGGGTTAGCGGGTGCGGCGAGCTGCGGGATTGGGGAGCAACGGGCCGGGCCGGGCCTTCGGGCCCGAGGCGGCGGCGGCGGTATAAAGCCGGCGACTGGGAGCATGTAATGTCGGAATGCGGAGGCCGCGGCGGCGGCAGCAGCAGCAGCGAGGACGCCGAGGACGAGGGAGGGGGCGGCGGCGGCCCCGCGGGCTCAGACTGCCTCAGCTCGAGCCCGACCCTGGCCACAGCGTCCTCGGCGGGCCGGCTCCGTCGCGGGCTGCGTGGCGCCTTCCTCATGGCGCGCCAGCGGCCGGAGCTGCTCTGCGGGGCCGTGGCGCTCGGCTGCGCGCTGCTCCTCGCCCTCAAGTTCACCTGCAG___TCGAGCAAAAGATGTGATAATACCAGCAAAGCCACCTGTCAGCTTTTTCTCCTTGAGGTCTCCAGTCCTTGACCTCTTCCAGGGGCAGCTGGATTATGCAGAGTACGTTCGACGGGATTCAGAGGTGGTACTGCTCTTCTTCTATGCCCCTTGGTGTGGACAGTCCATCGCTGCCAGGGCAGAAATTGAGCAAGCAGCAAGTCGGCTTTCAGATCAG___GTGTTGTTTGTGGCAATTAACTGTTGGTGGAACCAGGGGAAATGCAGAAAACAGAAACACTTCTTTTATTTTCCTGTAATATATCTGTATCATCGGAG___TTTTGGACCAATCGAATACAAAGGCCCCATGAGTGCTGTTTACATTGAGAAGTTTGTCCGCCGGGTGA)TGAAACCACTTCTCTACATCCCATCTCAATCAGAATTACTAGATTTTCTCTCAAACTACGAG___CCTGGAGTACTCGGGTACTTTGAGTTCAGTGGCTCACCCCAGCCTCCTGGTTATTTGACCTTCTTCACCTCAGCATTACATTCATTAAAGAAAG|CAACCCTTCAAGAAAAATATTGAACTGGAGCTGCATTTTAGATGAG___GCCCTCTTTTTGGAAGACTGATCATTGGAGATGAAGGCCCTTCTGCTGACCTGAGAAGAGAGGACgGCTCTTTAACCCACACAGAAACTACACCCAGGGGTGACCCCATTTGAACTGTGCTGTTGATTTTCCCAAGCACATTGTTTCATAGTCATTTAAAAGAGG MSECGGRGGGSSSSEDAEDEGGGGGGPAGSDCLSSSPTLATASSAGRLRRGLRGAFLMARQRPELLCGAVALGCALLLALKFTCSRAKDVIIPAKPPVSFFSLRSPVLDLFQGQLDYAEYVRRDSEVVLLFFYAPWCGQSIAARAEIEQAASRLSDQVLFVAINCWWNQGKCRKQKHFFYFPVIYLYHRSFGPIEYKGPMSAVYIEKFVRRVMKPLLYIPSQSELLDFLSNYEPGVLGYFEFSGSPQPPGYLTFFTSALHSLKK|atlqeky* 11BR031 ENSG00000027075.15 ENSG00000100813.14 +/+ -/- chr14:61457679 chr14:23063577 CDS/splice-site CDS/splice-site inversion 33 19 0 96 299 high in-frame . C2_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_domain(100%)|RNSP1-SAP18_binding_(RSB)_motif(100%) . . ENSG00000027075.15 ENSG00000100813.14 ENST00000332981.10 ENST00000262710.5 downstream downstream mismatches(1) ^(AAGAGACGCTTGGGGCTGGGGCTCACCGGACGGGTAGGTCCGGCTCTCCAGGGAGAGGAGCTGCCCGGCCCTGGAGAAGGGGCGAGTCCTGCGCGAGTCCCCGGGAGGCGCCGCGCGCTTGGAAGGGACGGTCGGGCTTCCCCGGCCCGCTGAGGGCTCGGCGGCGGGCTCCCCTCCTTTCCACCTCGGGAGGGAGGGAAGGAGGGGAGGGAAAAGTCCCACGGAGGAGGCAGAATGGCCAGTCGAGGGGCGCTTAGGCGCTGCCTTTCCCCAGGGCTGCCTCGACTCCTGCACCTGTCCCGAGGGCTGGCCTGAGACGGGACTCCCGGTTCTCCCGCTGCGAAGCAGCGCGGCCCCCCGGGGCCGGGGCAGCGGCGCCGGCATGTCGTCTGGCACCATGAAGTTCAATGGCTATTTGAGGGTCCGCATCGGTGAGGCAGTGGGGCTGCAGCCCACCCGCTGGTCCCTGCGCCACTCGCTCTTCAAGAAGGGCCACCAGCTGCTGGACCCCTATCTGACGGTGAGCGTGGACCAGGTGCGCGTGGGCCAGACCAGCACCAAGCAGAAGACCAACAAACCCACGTACAACGAGGAGTTTTGCGCTAACGTCACCGACGGCGGCCACCTCGAGTTGGCCGTCTTCCACGAGACGCCCCTGGGCTACGACCACTTCGTGGCCAACTGCACCCTGCAGTTCCAGGAGCTGCTGCGCACGACCGGCGCCTCGGACACCTTCGAGGGTTGG___GTGGATCTCGAGCCAGAGGGGAAAGTATTTGTGGTAATAACCCTTACCGGGAGTTTCACTGAAG___CTACTCTCCAGAGAGACCGGATCTTCAAACATTTTACCAGGAAGCGCCAAAGGGCTATGCGAAGGCGAGTCCACCAGATCAATGGACACAAGTTCATGGCCACGTATCTGAGGCAGCCCACCTACTGCTCTCACTGCAGGGAGTTTATCTG___GGGAGTGTTTGGGAAACAGGGTTATCAGTGCCAAG___TGTGCACCTGTGTCGTCCATAAACGCTGCCATCATCTAATTGTTACAGCCTGTACTTGCCAAAACAATATTAACAAAGTGGATTCAAAG___ATTGCAGAACAGAGGTTCGGGATCAACATCCCACACAAGTTCAGCATCCACAACTACAAAGTGCCAACATTCTGCGATCACTGTGGCTCACTGCTCTGGGGAATAATGCGACAAGGACTTCAGTGTAAAA___TATGTAAAATGAATGTGCATATTCGATGTCAAGCGAACGTGGCCCCTAACTGTGGGGTAAATGCGGTGGAACTTGCCAAGACCCTGGCAGGGA)TGGGTCTCCAACCCGGAAATATTTCTCCAACCTCG___AAACTCGTTTCCAGATCGACCCTAAGACGACAGGGAAAGGAGAGCAGCAAAGAAGGAAATGGGATTGGGGTTAATTCTTCCAACCGACTTGGTATCGACAACTTTGAGTTCATCCGAGTGTTGGGGAAGGGGAGTTTTGGGAAG___GTGATGCTTGCAAGAaTcAAAGAAACAGGAGACCTCTATGCTGTGAAGGTGCTGAAGAAGGACGTGATTCTGCAGGATGATGATGTGGAATGCACCATGACCGAGAAAAGGATCCTGTCTCTGGCCCGCAATCACCCCTTCCTCACTCAGTTGTTCTGCTGCTTTCAGACCCCC|GTAGTACCTGCAGAGGGCCAGGAGAATGGGCAGAGGGAAGAAGAGGAAGAAGAGAAGGAACCTGAAGCAGAACCTCCTGTACCTCCCCAGGTGTCAGTAGAGGTGGCCTTGCCCCCACCTGCAGAGCATGAAGTAAAGAAAG___TGACTTTAGGAGATACCTTAACTCGACGTTCCATTAGCCAGCAGAAGTCCGGAGTTTCCATTACCATTGATGACCCAGTCCGAACTGCCCAGGTGCCCTCCCCACCCCGGGGCAAGATTAGCAACATTGTCCATATCTCCAATTTG___GTCCGTCCTTTCACTTTAGGCCAGCTAAAGGAGTTGTTGGGGCGCACAGGAACCTTGGTGGAAGAGGC(CTTCTGGATTGACAAGATCAAATCTCATTGCTTTGTAACG___TACTCAACAGTAGAGGAAGCTGTTGCCACCCGCACAGCTCTGCACGGGGTCAAATGGCCCCAGTCCAATCCCAAATTCCTTTGTGCTGACTATGCCGAGCAAGATGAG___CTGGATTATCACCGAGGCCTCTTGGTGGACCGTCCCTCTGAAACTAAGACAGAGGAGCAGGGAATACCACGGCCCCTGCACCCCCCACCCCCACCCCCGGTCCAGCCACCACAGCACCCCCGGGCAGAGCAGCGGGAGCAGGAACGGGCAGTGCGGGAACAGTGGGCAGAACGGGAACGGGAAATGGAGCGGCGGGAGCGGACTCGATCAGAGCGTGAATGGGATCGGGACAAAGTTCGAGAAGGGCCCCGTTCCCGATCAAGGTCCCGTGACCGCCGCCGCAAGGAACGTGCGAAGTCTAAAGAAAAGAAGAGTGAGAAGAAAG___AGAAAGCCCAGGAGGAACCACCTGCCAAGCTGCTGGATGACCTTTTCCGAAAGACCAAGGCAGCTCCCTGCATCTATTGGCTCCCACTGACTGACAGCCAG___ATCGTTCAGAAAGAGGCAGAGCGGGCCGAACGGGCCAAGGAGCGGGAGAAGCGGCGAAAGGAGCAAGAAGAAGAAGAGCAAAAGGAGCGGGAGAAGGAAGCCGAGCGGGAACGGAACCGACAGCTGGAGCGAGAGAAACGTCGGGAGCACAGTCGGGAGAGGGACAGGGAGAGAGAGAGAGAAAGGGAGCGGGACAGGGGGGACCGAGATCGGGATAGGGAAAGGGACCGAGAACGAGGCAGGGAAAGGGATCGCAGGGACACCAAGCGCCACAGCAGAAGCCGGAGTCGGAGCACACCTGTGCGGGACCGGGGTGGGCGCCGCTAGCTGGGAAAACACTAGAGCTGCAGGTACCAGCCACTCGGCCCCAGGGGGTTATGGCCACAGAGGGATAGGCACAGTCTCCACCACCCTGGAGCCAAGGGTCTTTCACATCACCTATCCCTACATACATACCAAATGGAAAAGTGGCCATCCTTTTCCCCCCAAACACACCCCCTTAACCTATCTCTTGGGACTTAGCCCGACCCTCCCTCTCATTTCCCATTAAGTCTGAGAGGCAAGAGCTAGGTTAGGCAAGGAGGTGGTTGGCCAGAGATGGGGAACAGCCAGGTGCCCCAGTCCTCTGATTTTTCCTCCATCCTGCTTACCACCTCCCTGGGTACTTACAGCCTTCTCTTGGGAACAGCCGGGGCCAGGACTGGGTCACCTATGAGCTGAATCAGCATCTCCTCCTGAGTCCCAGGGCCCCTGCAGTTCCCAGTCTCTTCTGTCCTGCAGCCCTTGCCTCTTTCCCACAGGTTCCACTTTATATCCACCTTTTCCTTTTGTTCAATTTTTATTTTTATTTTTTTTATTATTAAATGATGTGGTCTATGGAAAAAAAAATAAAAATCTGACTTAGTTTT)$ MSSGTMKFNGYLRVRIGEAVGLQPTRWSLRHSLFKKGHQLLDPYLTVSVDQVRVGQTSTKQKTNKPTYNEEFCANVTDGGHLELAVFHETPLGYDHFVANCTLQFQELLRTTGASDTFEGWVDLEPEGKVFVVITLTGSFTEATLQRDRIFKHFTRKRQRAMRRRVHQINGHKFMATYLRQPTYCSHCREFIWGVFGKQGYQCQVCTCVVHKRCHHLIVTACTCQNNINKVDSKIAEQRFGINIPHKFSIHNYKVPTFCDHCGSLLWGIMRQGLQCKICKMNVHIRCQANVAPNCGVNAVELAKTLAGMGLQPGNISPTSKLVSRSTLRRQGKESSKEGNGIGVNSSNRLGIDNFEFIRVLGKGSFGKVMLARiKETGDLYAVKVLKKDVILQDDDVECTMTEKRILSLARNHPFLTQLFCCFQTP|VVPAEGQENGQREEEEEEKEPEAEPPVPPQVSVEVALPPPAEHEVKKVTLGDTLTRRSISQQKSGVSITIDDPVRTAQVPSPPRGKISNIVHISNLVRPFTLGQLKELLGRTGTLVEEAFWIDKIKSHCFVTYSTVEEAVATRTALHGVKWPQSNPKFLCADYAEQDELDYHRGLLVDRPSETKTEEQGIPRPLHPPPPPPVQPPQHPRAEQREQERAVREQWAEREREMERRERTRSEREWDRDKVREGPRSRSRSRDRRRKERAKSKEKKSEKKEKAQEEPPAKLLDDLFRKTKAAPCIYWLPLTDSQIVQKEAERAERAKEREKRRKEQEEEEQKEREKEAERERNRQLEREKRREHSRERDRERERERERDRGDRDRDRERDRERGRERDRRDTKRHSRSRSRSTPVRDRGGRR* 11BR031 ENSG00000196535.16 ENSG00000235454.1(33213),ENSG00000238131.2(30225) -/- ./+ chr17:29086438 chr7:53896552 CDS/splice-site intergenic translocation 13 17 1 155 103 high out-of-frame . Myosin_head_(motor_domain)(100%),Myosin_tail(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%)| . . ENSG00000196535.16 . ENST00000527372.6 . upstream upstream . ^(AGCTGCGCCGCGCTGCGCTCTGCTCCATCCCTGACCGGGCCGAGGCTGCTGGATGCCGCGTCTCCGCTTCTGCTGCCTGCCGGGCGGGCTCCGGTGGCCG___CAGCAAAGTGGGGCACCAAGGCCCTGTGCTAAGCACTCATAATCCTCTGGGGGTGCTACCCCTACAAACAGCACCCCCACCATGTTTAACCTAATGAAGAAAGACAAGGACAAAGATGGCGGGCGGAAGGAGAAGAAGGAGAAAAAGGAGAAAAAGGAGCGGATGTCAGCGGCAGAGCTTCGGAGCCTGGAGGAGATGAGCCTGCGACGTGGCTTCTTCAACCTGAACCGCTCCTCCAAGCGTGAATCCAAGACGCGCCTGGAAATCTCCAACCCCATCCCCATCAAGGTGGCCAGCGGCTCTGACCTGCACCTGACTGACATTGACTCCGATAGTAACCGGGGCAGCGTCATCCTGGACTCGGGCCACCTAAGTACAGCCAGCTCCAGCGATGACCTCAAGGGTGAGGAGGGTAGCTTCCGTGGCTCGGTGCTGCAGCGGGCAGCCAAGTTCGGCTCACTGGCCAAGCAGAACTCACAGATGATTGTCAAGCGCTTTTCCTTCTCCCAGCGTAGCCGGGATGAGAGCGCCTCAGAAACCTCGACGCCCTCAGAGCACTCTGCCGCCCCCTCGCCACAGGTGGAGGTGAGGACTCTAGAGGGACAGCTGGTGCAGCATCCTGGCCCAGGCATCCCTCGACCAGGGCACCGATCCCGAGCCCCTGAGCTAGTGACTAAAAAGTTCCCAGTCGACCTGCGCCTGCCCCCCGTGGTGCCCCTGCCCCCACCTACCCTCCGGGAGCTGGAGCTGCAACGACGGCCCACTGGAGACTTTGGCTTCTCCCTGCGGCGCACAACCATGCTGGATCGGGGCCCCGAGGGCCAGGCCTGTCGGCGTGTGGTCCACTTTGCTGAGCCTGGTGCAGGCACCAAGGACCTGGCCCTGGGGCTGGTGCCAGGAGATCGACTGGTGGAGATTAATGGGCACAATGTGGAGAGCAAGTCCAGGGATGAGATTGTGGAGATGATCCGGCAGTCAGGGGACAGCGTGCGGCTCAAGGTGCAGCCCATTCCAGAGCTCAGCGAGCTCAGCAGGAGCTGGCTGCGGAGCGGCGAGGGACCTCGCAGGGAGCCATCCGAT___GCGAAAACAGAAGAACAGATTGCAGCAGAAGAGGCCTGGAATGAGACGGAGAAGGTGTGGCTGGTCCATAGGGACGGCTTCTCACTGG___CCAGTCAACTCAAATCTGAGGAGCTCAACTTGCCTGAGGGGAAGGTGCGTGTGAAGCTGGACCACGATGGGGCCATCCTGGATGTGGATGAGGATGACGTTGAGAAG___GCTAATGCTCCCTCCTGCGACCGTCTGGAGGATCTGGCCTCACTGGTGTACCTCAATGAGTCCAGCGTCCTGCACACCTTGCGCCAGCGCTATGGCGCTAGCCTGCTGCACACGTATGCTGGCCCCAGCCTGCTGGTTCTTGGCCCCCGTGGGGCCCCTGCTGTGTACTCTGAGAAG___GTGATGCACATGTTCAAGGGTTGTCGGCGGGAGGACATGGCACCCCACATCTATGCAGTGGCCCAGACCGCATACAGGGCGATGCTGATGAGCCGTCAGGATCAGTCAATCATCCTCCTGGGCAGTAGTGGCAGTGGCAAGACCACCAGCTGCCAGCATCTGGTGCAGTACCTGGCCACCATCGCGGGCATCAGCGGGAACAAGGTGTTTTCTG___TGGAGAAGTGGCAGGCTCTGTACACCCTCCTGGAAGCCTTTGGGAACAGCCCCACCATCATTAATGGCAATGCCACCCGCTTCTCCCAGATCCTCTCCCTGGACTTTGACCAAGCTGGCCAGGTGGCCTCAGCCTCCATTCAG___ACAATGCTTCTGGAGAAGCTGCGTGTGGCTCGGCGCCCAGCCAGTGAAGCCACATTCAACGTCTTCTACTACCTGCTGGCCTGTGGGGATGGCACCCTCAG___GACAGAGCTCCACCTCAACCACTTGGCAGAGAACAATGTGTTTGGGATTGTGCCACTGGCCAAG___CCTGAGGAAAAGCAGAAGGCAGCTCAGCAGTTTAGTAAGCTGCAGGCGGCCATGAAGGTGCTGGGCATCTCCCCCGATGAACAGAAGGCCTGCTGGTTCATTCTGGCTGCCATCTACCACCTGGGGGCTGCGGGAGCCACCAAAG___AAGCTGCTGAAG___CTGGGCGCAAGCAGTTTGCCCGCCATGAGTGGGCCCAGAAGGCTGCGTACCTACTGGGCTGCAGCCTGGAGGAGCTGTCCTCAGCCATCTTCAAGCACCAGCACAAGGGTGGCACCCTGCAGCGCTCCACCTCCTTCCGCCAGGGCCCCGAGGAGAGTGGCCTGGGAGATGGGACAG___GCCCGAAACTGAGTGCACTGGAGTGCCTTGAGGGCATGGCGGCCGGCCTCTACAGCGAGCTCTTCACCCTTCTCGTCTCCCTGGTGAATAG___GGCTCTCAAGTCCAGCCAGCACTCACTCTGCTCCATGATGATTGTCGACACCCCGGGCTTCCAGAACCCTGAGCAGGGTGGGTCAGCCCGCGGAGCCTCCTTTGAGGAGCTGTGCCACAACTACACCCAAGACCGGCTGCAGAGGCTCTTCCACGAGCGCACCTTCGTGCAGGAGTTGGAAAGATACAAGGAG___GAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTG___GTCCGCTCGCTGGCCCGCACAGACGAGGCGAGGGGCCTGCTCTGGCTATTGGAAGAGGAGGCTCTGGTGCCAGGGGCCAGTGAGGACACCCTCCTGGAGCGCCTTTTCTCCTATTATGGCCCCCAGGAAGGTGACAAAAAAG___GCCAAAGCCCCCTTCTGCACAGCAGCAAACCACACCACTTTCTCCTGGGCCACAGCCATGGCACCAACTGGGTAGAGTACAATGTGACTGGCTGGCTGAACTACACCAAGCAGAACCCAGCCACCCAGAATGCCCCCCGGCTCCTGCAGGACTCCCAGAA___AAAAATCATCAGCAACCTGTTTCTGGGCCGCGCAGGCAGTGCCACGGTGCTCTCTGGCTCCATCGCGGGCCTGGAGGGCGGCTCGCAGCTGGCACTGCGCCGGGCCACCAGCATGCGGAAAACCTTTACCACAGGCATGGCGGCTGTCAAAAAGAAGTCACTGTGCATCCAGATGAAGCTACAGGTG___GACGCCCTCATCGACACCATCAAGAAGTCAAAGCTGCATTTTGTGCACTGCTTCCTGCCTGTAGCTGAGGGCTGGGCTGGGGAGCCCCGTTCCGCCTCCTCCCGCCGAGTCAGCAGCAGCAGTGAGCTGGACCTGCCCTCGGGAGACCACTGCGAGGCTGGGCTCCTGCAGCTCGACGTGCCCCTGCTCCGCACCCAGCTCCGCGGCTCCCGCCTGCTCGATGCCATGCGCATGTACCGCCAAG___GTTACCCTGACCACATGGTGTTTTCCGAGTTCCGCCGCCGCTTTGATGTCCTGGCCCCGCACCTGACCAAGAAACACGGGCGTAACTACATCGTGGTGGATGAAAGGCGG___GCAGTGGAGGAGCTGCTGGAGTGCTTGGATCTGGAGAAGAGCAGCTGCTGCATGGGCCTGAGCCGG___GTGTTCTTCCGGGCGGGCACCTTGGCACGGCTGGAGGAGCAGCGGGATGAACAAACCAGCAGGAACCTAACCCTGTTCCAAGCAGCCTGCAGGGGCTACCTGGCCCGCCAGCACTTCAAGAAGAGAAAG___ATCCAGGACCTGGCCATTCGCTGTGTACAGAAGAACATCAAGAAGAACAAAGGGGTGAAGGACTGGCCCTGGTGGAAGCTTTTTACCACAGTGAGGCCCCTCATCGAAGTACAGCTGTCAGAGGAGCAGATCCGGAACAAAGAC___GAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCCGG___ATCTCAGAGCTGACATCGGAGCTGACAGATGAGCGTAACACAGGAGAGTCCGCCTCCCAGCTGCTGGACGCGGAGACAGCAGAGAGGCTCCGGGCTGAGAAGGAGATGAAGGAACTGCAG___ACCCAGTACGATGCACTGAAGAAGCAGATGGAGGTTATGGAAATGGAGGTGATGGAGGCCCGTCTCATCCGGGCAGCGGAGATCAACGGGGAAGTGGATGATGATGATGCAG___GTGGCGAGTGGCGGCTGAAGTATGAGCGGGCTGTGCGGGAGGTGGACTTCACCAAGAAACGGCTCCAGCAGGAGTTTGAGGACAAGCTGGAGGTGGAGCAGCAGAACAAGAGGCAGCTGGAACGGCGG___CTCGGGGACCTGCAGGCAGATAGTGAGGAGAGTCAGCGGGCTCTGCAGCAGCTCAAGAAGAAGTGCCAGCGACTGACGGCTGAGCTGCAAGACACCAAGCTGCACCTGGAGGGCCAGCAGGTCCGCAACCACGAACTGGAGAAGAAGCAGAGGAG___GTTTGACAGTGAGCTCTCGCAGGCGCATGAGGAGGCCCAGCGGGAGAAGCTGCAGCGGGAGAAGCTGCAGCGGGAGAAGGACATGCTCCTCGCTGAGGCTTTCAGCCTGAAGCAGCAACTAGAG___GAAAAAGACATGGACATTGCAGGGTTCACCCAGAAGGTTGTGTCTCTAGAGGCAGAGCTCCAGGACATTTCTTCCCAAGAGTCCAAGGATGAGGCTTCTCTGGCCAAGGTCAAGAAACAGCTCCGGGACCTGGAGGCCAAAGTCAAGGATCAGGAAGAAGAGCTGGATGAGCAGGCAGGGACCATCCAGATGCTGGAACAG___GCCAAGCTGCGTCTGGAGATGGAGATGGAGCGGATGAGACAGACCCATTCTAAGGAGATGGAGAGTCGGGATGAGGAGGTGGAGGAGGCCCGGCAGTCGTGTCAGAAGAAG___TTAAAACAGATGGAGGTGCAGCTAGAGGAAGAGTATGAGGACAAGCAGAAGGTTCTGCGAGAGAAGCGGGAGCTGGAGGGCAAGCTCGCCACCCTCAGCGACCAG___GTGAACCGGCGGGACTTTGAGTCAGAGAAGCGGCTGCGGAAGGACCTGAAGCGCACCAAGGCCCTGCTGGCAGATGCCCAGCTCATGCTGGACCACCTGAAGAACAGTGCTCCCAGCAAGCGAGAGATTGCCCAGCTCAAGAACCAG___CTGGAGGAGTCAGAGTTCACCTGTGCGGCAGCCGTGAAAGCACGGAAAGCAATGGAGGTGGAGATCGAAGACCTGCACCTGCAGATTGATGACATCGCCAAAGCCAAGACAGCG___CTGGAGGAGCAGCTGAGCCGCCTTCAGCGTGAGAAGAATGAGATCCAGAACCGGCTGGAGGAAGATCAGGAAGACATGAACGAATTGATGAAGAAGCACAAGGCTGCCGTGGCTCAG___GCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAG___CTACAAGCCCTCCAGAGCCAGGTGGAGTTCCTGGAGCAGTCCATGGTGGACAAGTCCCTGGTGAGCAGGCAGGAAGCTAAGATACGGGAGCTGGAGACACGCCTGGAGTTTGAAAGGACGCAAGTGAAACGGCTGGAG___AGCCTGGCTAGCCGTCTCAAGGAAAACATGGAGAAGCTGACTGAGGAGCGGGATCAGCGCATTGCAGCCGAGAACC)GGGAGAAGGAACAGAACAAGCGGCTACAGAGGCAGCTCCGGGACACCAAGGAGGAGATGGGCGAGCTTGCCAGGAAGGAGGCCGAGGCGAGCCGCAAGAAGCACGAACTG___GAGATGGATCTAGAAAGCCTGGAGGCTGCTAACCAGAGCCTGCAGGCTGACCTAAAGTTGGCATTCAAGCGCATCGGGGACCTGCAGGCTGCCATTGAGGATGAGATGGAGAGTGATGAGAATGAGGACCTCATCAACAG|AGAACCCTGATTAATACACCATCCAACTACCTGCCCTGTGGGCTTCAAGCATCAGACAAGAAGACGACAGGCTTAGACAAATGGTTCAGTCGGCTCCCTCAGTTGCACAAGACAATTGATCTCTCTCTCTCTCTCTCTGCAGTTGATCTCTCTCTCTCCCTCTCCGCATATATATGTTAAACTTTGTTCTATTAAGACCTTCAATTGATTGAAGTCCACCCACATTATGGAG MFNLMKKDKDKDGGRKEKKEKKEKKERMSAAELRSLEEMSLRRGFFNLNRSSKRESKTRLEISNPIPIKVASGSDLHLTDIDSDSNRGSVILDSGHLSTASSSDDLKGEEGSFRGSVLQRAAKFGSLAKQNSQMIVKRFSFSQRSRDESASETSTPSEHSAAPSPQVEVRTLEGQLVQHPGPGIPRPGHRSRAPELVTKKFPVDLRLPPVVPLPPPTLRELELQRRPTGDFGFSLRRTTMLDRGPEGQACRRVVHFAEPGAGTKDLALGLVPGDRLVEINGHNVESKSRDEIVEMIRQSGDSVRLKVQPIPELSELSRSWLRSGEGPRREPSDAKTEEQIAAEEAWNETEKVWLVHRDGFSLASQLKSEELNLPEGKVRVKLDHDGAILDVDEDDVEKANAPSCDRLEDLASLVYLNESSVLHTLRQRYGASLLHTYAGPSLLVLGPRGAPAVYSEKVMHMFKGCRREDMAPHIYAVAQTAYRAMLMSRQDQSIILLGSSGSGKTTSCQHLVQYLATIAGISGNKVFSVEKWQALYTLLEAFGNSPTIINGNATRFSQILSLDFDQAGQVASASIQTMLLEKLRVARRPASEATFNVFYYLLACGDGTLRTELHLNHLAENNVFGIVPLAKPEEKQKAAQQFSKLQAAMKVLGISPDEQKACWFILAAIYHLGAAGATKEAAEAGRKQFARHEWAQKAAYLLGCSLEELSSAIFKHQHKGGTLQRSTSFRQGPEESGLGDGTGPKLSALECLEGMAAGLYSELFTLLVSLVNRALKSSQHSLCSMMIVDTPGFQNPEQGGSARGASFEELCHNYTQDRLQRLFHERTFVQELERYKEENIELAFDDLEPPTDDSVAAVDQASHQSLVRSLARTDEARGLLWLLEEEALVPGASEDTLLERLFSYYGPQEGDKKGQSPLLHSSKPHHFLLGHSHGTNWVEYNVTGWLNYTKQNPATQNAPRLLQDSQKKIISNLFLGRAGSATVLSGSIAGLEGGSQLALRRATSMRKTFTTGMAAVKKKSLCIQMKLQVDALIDTIKKSKLHFVHCFLPVAEGWAGEPRSASSRRVSSSSELDLPSGDHCEAGLLQLDVPLLRTQLRGSRLLDAMRMYRQGYPDHMVFSEFRRRFDVLAPHLTKKHGRNYIVVDERRAVEELLECLDLEKSSCCMGLSRVFFRAGTLARLEEQRDEQTSRNLTLFQAACRGYLARQHFKKRKIQDLAIRCVQKNIKKNKGVKDWPWWKLFTTVRPLIEVQLSEEQIRNKDEEIQQLRSKLEKAEKERNELRLNSDRLESRISELTSELTDERNTGESASQLLDAETAERLRAEKEMKELQTQYDALKKQMEVMEMEVMEARLIRAAEINGEVDDDDAGGEWRLKYERAVREVDFTKKRLQQEFEDKLEVEQQNKRQLERRLGDLQADSEESQRALQQLKKKCQRLTAELQDTKLHLEGQQVRNHELEKKQRRFDSELSQAHEEAQREKLQREKLQREKDMLLAEAFSLKQQLEEKDMDIAGFTQKVVSLEAELQDISSQESKDEASLAKVKKQLRDLEAKVKDQEEELDEQAGTIQMLEQAKLRLEMEMERMRQTHSKEMESRDEEVEEARQSCQKKLKQMEVQLEEEYEDKQKVLREKRELEGKLATLSDQVNRRDFESEKRLRKDLKRTKALLADAQLMLDHLKNSAPSKREIAQLKNQLEESEFTCAAAVKARKAMEVEIEDLHLQIDDIAKAKTALEEQLSRLQREKNEIQNRLEEDQEDMNELMKKHKAAVAQASRDLAQINDLQAQLEEANKEKQELQEKLQALQSQVEFLEQSMVDKSLVSRQEAKIRELETRLEFERTQVKRLESLASRLKENMEKLTEERDQRIAAENREKEQNKRLQRQLRDTKEEMGELARKEAEASRKKHELEMDLESLEAANQSLQADLKLAFKRIGDLQAAIEDEMESDENEDLINr|ep* 11BR031 ENSG00000006530.18 ENSG00000232053.7(24472),ENSG00000226066.1(23399) +/+ ./+ chr7:141601280 chr7:136462257 CDS/splice-site intergenic duplication 11 13 1 63 36 high out-of-frame . Diacylglycerol_kinase_catalytic_domain(100%)| . . ENSG00000006530.18 . ENST00000649286.2 . downstream upstream . ^(AGAGCCGCGAGCTGGACCAGCCGTG___CAAAT)CTCTAGAAGATGACGGTGTTCTTTAAAACGCTTCGAAATCACTGGAAGAAAACTACAGCTGGGCTCTGCCTGCTGACCTGGGGAGGCCATTGGCTCTATGGAAAACACTG___TGATAACCTCCTAAGGAGAGCAGCCTGTCAAGAAGCTCAG___GTGTTTGGCAATCAACTCATTCCTCCCAATGCACAAGTGAAGAAGGCCACTGTTTTTCTCAATCCTGCAGCTTGCAAAGG___AAAAGCCAGGACTCTATTTGAAAAAAATGCTGCCCCGATTTTACATTTATCTGGCATGGATGTGACTATTGTTAAG|GTCATAAGACACTCATTTCAGAAGGGGTCCTGCCTGATGcCTGGGAAGAAGAAATGCTGCGCCGAGATGCCAAGAAAAATAGAGACAGGCCTCACTGGGTTTCCTCACTTAGTCTATTAGTATTAGATAATACCCCTTTTGTCCAATCACATCTCTACACAGTTATCAATCATGCCTATCAAATGCAGTCTCCAGAGAAGGCTTAAGAGGAAGGGGTGTTAAGAGCTTCTGGACAGCTGAATTCATGGAGGCTTGC MTVFFKTLRNHWKKTTAGLCLLTWGGHWLYGKHCDNLLRRAACQEAQVFGNQLIPPNAQVKKATVFLNPAACKGKARTLFEKNAAPILHLSGMDVTIVK|virhsfqkgsclmpgkkkccaemprkietgltgfphlvy* 11BR031 ENSG00000185504.17 ENSG00000167862.10 -/- +/+ chr17:81541309 chr17:75020921 CDS/splice-site CDS/splice-site inversion 8 13 0 59 119 high out-of-frame . Fanconi_anemia-associated_(100%)|RF-1_domain(100%) . . ENSG00000185504.17 ENSG00000167862.10 ENST00000327787.13 ENST00000301585.10 upstream upstream duplicates(1) ^(ACTCTGACGGGCCCGCGCGCACGATGGCCGGCGCCGCGCCGCGGGTCCGCTACCTGGCGGGCTTCTGCTGCCCTCTCGGGGGCCTGGCGGCGGGCAAGCCCCGCGTGCTGTGCCATGAGGCAGAGGTCTTCCTGTCCACCGGGAGCGAGCTCGTCTACGTGTACGACCAGGAGGGCGGGCTGCTGACC___GCGGCGTTCCGGTTCCCCGACCAGGTGTGGCACCTGGAGCTGCTGGCGCCGCGCAGGTTGCTGTACGCGCTGTGCGCCCGGAGGGGCCTCTACTGCCTGTCGCTGGACCACCCGGGCAGGAGCAG___GTCTACGAGCCAGGATGACAGGGACAGCGAGGACGGTGACCAGCCTTCCCCCGTGATCCCTGTGGACCCCGATGCCTGCATCCTTCCCGATGCTGCGCTGTGCGCGTTCACCTTGCTGGACAGTGTGCTGGTCACCCTGGTGCAGGGCCCTGCCCGATGGAAGATGCAGCTGTTTGAGCAGCCCTGTCCTGGGGAGGACCCCCGGCCAGGAGGCCAGATCGGTGAGGTGGAGCTGTCCTCCTACACGCCCCCAGCCGGGGTCCCAGGAAAGCCTGCAGCCCCCCACTTCCTTCCAGTGCTGTGCTCTGTGTCACCATCAGGCTCCAGGGTCCCGCACGACCTCCTCGGGGGCTCCGGGGGCTTCACGCTGGAGGACGCCCTCTTCGGGCTCCTCTTTGGAGCTGATGCCACCCTCCTGCAGTCACCTGTGGTCCTCTGTGGTCTCCCTGATGGCCAGCTCTGCTGTGTGATCCTGAAGGCCCTGGTCACCTCCAGGTCAGCCCCTGGTGACCCAAATGCCCTTGTCAAGATCCTCCATCACCTGGAGGAGCCCGTCATCTTCATAGGGGCCTTGAAGACAGAGCCACAGGCTGCAGAAGCTGCAGAGAATTTTCTGCCTGACGAGGATGTGCACTGTGACTGCCTGGTGGCCTTTGGTCACCACGGCCGGATGCTGGCCATCAAGGCCAGCTGGGATGAGTCCGGGAAGCTGGTGCCCGAGCTGCGGGAGTACTGCCTCCCAGGCCCTGTGCTCTGCGCTGCCTGTGGCGGGGGTGGCCGCGTGTACCACAGCACCCCTTCTGACCTCTGTGTGGTGGATCTGTCTCGGGGAAGCACCCCGCTGGGCCCTGAGCAGCCCGAAGAAGGCCCGGGAGGCCTGCCCCCCATGCTGTGCCCAGCCAGCCTGAACATCTGCAGTGTCGTCTCGCTGTCCGCGTCTCCCAGGACGCATGAAG___GTGGCACCAAGCTCCTGGCCCTGTCCGCCAAAGGCCGCCTGATGACCTGCAGCCTGGACCTGGACTCTGAGATGCCTGGCCCAGCCAGGATGACCACAGAGAGTGCAGGTCAGAAAATAAAGGAGCTGCTGTCTGGAATTGGCAACATCTCTGAGAG___AGTGTCTTTTCTAAAGAAGGCGGTTGACCAGCGGAACAAGGCACTGACAAGCCTCAACGAGGCCATGAACGTGAGCTGTGCACTGCTGTCAAGCGGCACGGGCCCCAGACCCATCTCCTGCACCACCAGCACCACCTGGAGCCGCCTGCAGACACAGGATGTGCTCATGGCCACCTGCGTGCTAGAGAACAGCAGCAGCTTCAGCCTGGACCAGGGGTGGACCCTGTGCATCCAGGTGCTCACCAGCTCCTGTGCTCTCGACCTGGACTCGGCCTGCTCCGCCATCACCTACACCATCCCCGTGGACCAGCTCGGCCCCGGTGCTCGGCGGGAGGTGACGCTACCCCTGGGCCCTGGTGAGAACGGCGGGCTCGACCTGCCCGTGACCGTGTCCTGCACGCTGTTCTACAGTCTCAGGGAGGTGGTGGGCGGGGCCCTTGCCCCCTCAGACTCTGAGGACCCCTTTCTGGATGAGTGCCCCTCCGACGTCCTGCCCGAGCAAGAGGGTGTTTGCCTGCCCCTGAGCAGGCACACAGTGGACATGCTGCAGTGTCTGCGCTTCCCTGGCCTGGCCCCGCCACACACACGGGCCCCCTCCCCACTCGGCCCCACCCGAGACCCTGTGGCCACTTTTCTGGAAACTTGTCGGGAGCCTGGCAGCCAGCCAGCAGGACCCGCCTCCCTGCGGGCCGAGTACCTGCCCCCATCTGTGGCTTCCATCAAGGTGTCGGCGGAGCTGCTCAGAGCTGCCTTGAAGGACGGCCACTCAG___GCGTGCCCCTGTGCTGTGCCACCCTGCAGTGGCTCCTTGCTGAGAATGCTGCTGTGGAC)GTCGTGAGGGCCCGAGCACTATCTTCCATCCAGGGAGTGGCCCCTGATGGCGCCAACGTTCACCTCATCGTCCGAGAG___GTGGCCATGACTGACCTGTGCCCAGCAGGGCCCATCCAGGCCGTGGAGATTCAAGTGGAAAGCTCCTCTCTGGCCGACATTTGCAGGGCGCACCATGCCGTTGTCGGGCGCATGCAG___ACGATGGTGACAGAGCAGGCCgCCCAGGGCTCCAGCGCTCCTGATCTCCGTGTGCAGTACCTCCGCCAGATCCACGCCAACCACGAG|GATAGAAAACATGAATCGGGAAAGGCTGAGACAAAAGAGAATTCATTCTGCTGTAAAGACAAGCAGGAGGGTCGACATGGACTGAAATCACCCTCTGCAGCTGGGAGGGCTCTTCTGGGCGTCCGGGCAGCTGCAGCTGAGAGGACTTTCACACCATAAGGAGATTTCTGTTTTTCTTTTTGGCTGTTAATGCTTGTCTATAACATTGGAGCCATCACAAGAATGTTCATTTGGAATGAAGGCTGCAGGC(ACTGGTTGCAGACGTCTTTATAGGCAGTCACCATGTTGTCAAACCTTAATAATGCACCTCATGTATTAGTCACAATAAAAATCAGAACTCA)$ MAGAAPRVRYLAGFCCPLGGLAAGKPRVLCHEAEVFLSTGSELVYVYDQEGGLLTAAFRFPDQVWHLELLAPRRLLYALCARRGLYCLSLDHPGRSRSTSQDDRDSEDGDQPSPVIPVDPDACILPDAALCAFTLLDSVLVTLVQGPARWKMQLFEQPCPGEDPRPGGQIGEVELSSYTPPAGVPGKPAAPHFLPVLCSVSPSGSRVPHDLLGGSGGFTLEDALFGLLFGADATLLQSPVVLCGLPDGQLCCVILKALVTSRSAPGDPNALVKILHHLEEPVIFIGALKTEPQAAEAAENFLPDEDVHCDCLVAFGHHGRMLAIKASWDESGKLVPELREYCLPGPVLCAACGGGGRVYHSTPSDLCVVDLSRGSTPLGPEQPEEGPGGLPPMLCPASLNICSVVSLSASPRTHEGGTKLLALSAKGRLMTCSLDLDSEMPGPARMTTESAGQKIKELLSGIGNISERVSFLKKAVDQRNKALTSLNEAMNVSCALLSSGTGPRPISCTTSTTWSRLQTQDVLMATCVLENSSSFSLDQGWTLCIQVLTSSCALDLDSACSAITYTIPVDQLGPGARREVTLPLGPGENGGLDLPVTVSCTLFYSLREVVGGALAPSDSEDPFLDECPSDVLPEQEGVCLPLSRHTVDMLQCLRFPGLAPPHTRAPSPLGPTRDPVATFLETCREPGSQPAGPASLRAEYLPPSVASIKVSAELLRAALKDGHSGVPLCCATLQWLLAENAAVDVVRARALSSIQGVAPDGANVHLIVREVAMTDLCPAGPIQAVEIQVESSSLADICRAHHAVVGRMQTMVTEQAaQGSSAPDLRVQYLRQIHANHE|drkhesgkaetkensfcckdkqegrhglkspsaagrallgvraaaaertftp* 11BR031 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 8 0 16 28 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream . GTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAG(GTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR031 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 15 0 17 92 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream . GCGGCGGCGGCGGCGGCaGCaGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACG(ACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR031 ENSG00000083290.20 ENSG00000228983.9 -/- +/- chr17:19841489 chr17:19580355 CDS/splice-site intron deletion/read-through/5'-5' 8 2 1 20 16 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000083290.20 ENSG00000228983.9 ENST00000361658.6 . upstream downstream duplicates(3) ^(AGTCGCGCGGGAGCGGGTAGCGCGCGCGAGGGCGTTGGGCGCCGCCGCGAGGCGGGGAAGCGCGGGGCCGCGGCGGTGCGGGTTCTAGGGCGGCGGCCGTCGCCGTCGCAGCAGCGCCCCGAGCGGGGAGGGCCGAGGAGGCCCGACGAGCTGGGGATGGAGAGTACCGGGCCCCTCACTGCCTCAGAGCGCGTGTGCGGCTCTGGGCGCGCACAGTGACGGTGACGGCACCCCTGGCCCGGCAGCGCCGAGGCCGCTTCGCCAGACAGCCAGCGGCCGGCGGCAGGCCGGGCCATGAGCGGCAGGGGCCGGGCCGGGCCTCGCTGACCCTGGCTCCGCGCGGCAGCTTCCCCAGTTTCCGCTCCGGTCTCTCGGCATGAGAGTCCGCCCGGGCCCGGGGCTGCGGCTGCCCCAGACCCGCCGCACGCTGGCGCGCTCCGGGCCCGCGGAGCCGCGGTGCTGATACCTGCGCCGCACTGCGCCGCCCGCCCGTCCGCTGTGTGCCCCGGGGGCGCGGCCATGGAGGTGGTGGGTGACTTCGAGTACAGCAAGAGGGATCTCGTGGGACACGGGGCCTTCGCCGTGGTCTTCCGGGGGCGGCACCGCCAG___AAAACTGATTGGGAGGTAGCTATTAAAAGTATTAATAAAAAGAACTTGTCAAAATCACAAATACTGCTTGGAAAGGAAATTAAAATCTTAAAG___GAACTTCAGCATGAAAATATTGTAGCACTCTATGATGTTCAG___GAATTACCCAACTCTGTCTTTTTGGTGATGGAG___TATTGCAATGGTGGAGACCTCGCAGATTATTTGCAAG___CGAAAGGGACTCTCAGTGAAGACACGATCAGAGTGTTTCTGCATCAGATTGCTGCTGCCATGCGAATCCTGCACAGCAAAGGAATCATCCACAGAGATCTCAAACCACAGAACATCTTGCTGTCCTATGCCAATCGCAGAAAATCAAGT)GTCAGTGGTATTCGCATCAAAATAG___CtGATTTTGGTTTTGCTCGTTACCTACATAGTAACATGATGGCTGCAACACTGTGTGGATCCCCGATGTACATG___GCTCCTGAGGTTATTATGTCTCAACATTATGATGCTAAGGCTGACTTGTGGAGCATAGGAACAGTGATATACCAATGCCTAGTTGGAAAACCACCTTTTCAG___GCCAATAGTCCTCAAGACTTAAGGATGTTTTATGAAAAAAACAGGAGCTTAATGCCTAG|GGGCGAAATCAGGCACCCACCGTGACGGCGAGCGTGACAGCGTCCGGCTCGACCTTGCCCAGATGTCCACAGAAGATGGAGCTGACGAGGCTGATTAgAAAGATCATCAACTGCGCAAGAAACTGCGGAGGCGCGGAAAGCAAGGCGCGTTCACAGCCGCCCTCCCTCCTGG MEVVGDFEYSKRDLVGHGAFAVVFRGRHRQKTDWEVAIKSINKKNLSKSQILLGKEIKILKELQHENIVALYDVQELPNSVFLVMEYCNGGDLADYLQAKGTLSEDTIRVFLHQIAAAMRILHSKGIIHRDLKPQNILLSYANRRKSSVSGIRIKIADFGFARYLHSNMMAATLCGSPMYMAPEVIMSQHYDAKADLWSIGTVIYQCLVGKPPFQANSPQDLRMFYEKNRSLMPr|geirhpp* 11BR031 ENSG00000066117.15 ENSG00000274723.1(66652),ENSG00000139211.6(36900) +/+ ./- chr12:50088637 chr12:47038807 CDS/splice-site intergenic inversion 2 7 1 59 15 high out-of-frame . . . . ENSG00000066117.15 . ENST00000381513.8 . downstream downstream . ^(AGCACGCCTTTTCCGCTAGTCGCCCCGCTCTATCCCATAGTCTCGCTGCCCTGAGCCTCCCGTGCCGGCCGGCCGGCCGGGGGAACAGGCGGGCGCTCGGGGGGCGCTCGGGGGGCGGGGGGAGTTCCGGTTCCGGTTCTTTGTGCGGCTGCATCGGCGGCTCCGGGAAGATGGCGGCCCGGGCGGGTTTCCAGTCTGTGGCTCCAAGCGGCGGCGCCGGAGCCTCAGGAGGGGCGGGCGCGGCTGCTGCCTTGGGCCCGGGCGGAACTCCGGGGCCTCCTGTGCGAATGGGCCCGGCTCCGGGTCAAGGGCTGTACCGCTCCCCGATGCCCGGAGCGGCCTATCCG___AGACCAGGTATGTTGCCAGGCAGCCGAATGACACCTCAGGGACCTTCCATGGGACCCCCTGGCTATGGGGGGAACCCTTCAGTCCGACCTGGCCTGGCCCAGTCAGGGATGGATCAGTCCCGCAAGAGACCTGCCCCTCAGCAGATCCAGCAGGTCCAGCAGCAGGCGGTCCAAAATCGAAACCACAA___TGCAAAGAAAAAGAAGATGGCTGACAAAATTCTACCTCAAAGG___ATTCGTGAACTGGTACCAGAATCCCAGGCCTATATGGATCTCTTGGCTTTTGAAAGGAAACTGGACCAGACTATCATGAGGAAACGGCTAGATATCCAAGAGGCCTTGAAACGTCCCATCAAG___CAAAAACGGAAGCTGCGAATTTTCATTTCTAACACTTTCAATCCGGCTAAGTCAGAT)GCCGAGGATGGGGAAGGGACGGTGGCTTCCTGGGAGCTTCGGGTAGAAGGACGGCTCCTGGAGGAT___TCAGCCTTGTCCAAATATGATGCCACTAAACAAAAGAGGAAGTTCTCTTCCTTTTTTAAGTCCTTGGTGATTGAACTGGACAAAGACCTGTATGGGCCAGACAACCATCTGGTAGAA|GTTCTTTTCAACTGTCAGCCTAAAATAATAAAATGTTAAGAATCTAATTTAAGGATAGTTGATTCAAGAGCAACATTTGAAGATAGCCTACCTGGAAACACCAACTGCAGAGGACTAGA___ATGTGATGTTTCAAAATGTAGCAGCCACCTTACAACCACAAGGCAGCAAATATGAAG MAARAGFQSVAPSGGAGASGGAGAAAALGPGGTPGPPVRMGPAPGQGLYRSPMPGAAYPRPGMLPGSRMTPQGPSMGPPGYGGNPSVRPGLAQSGMDQSRKRPAPQQIQQVQQQAVQNRNHNAKKKKMADKILPQRIRELVPESQAYMDLLAFERKLDQTIMRKRLDIQEALKRPIKQKRKLRIFISNTFNPAKSDAEDGEGTVASWELRVEGRLLEDSALSKYDATKQKRKFSSFFKSLVIELDKDLYGPDNHLVE|vlfncqpkiikc* 11BR031 ENSG00000136631.15 ENSG00000200327.1(23345),ENSG00000212527.1(17534) +/+ ./- chr1:150082883 chr1:163491950 CDS/splice-site intergenic inversion 6 4 0 100 8 high out-of-frame . Sec1_family(100%)| . . ENSG00000136631.15 . ENST00000535106.5 . downstream downstream duplicates(1) ^(GGGAAGACGAATCTCGACCACTGTTTCGCAAATACCGCGTGTGATTTATTAAATGCCGTCTCTCCGAGTCCCAAGCGGCCGGGAGCATTATGCCACCTCCCTTGCCCTCATCTCTCACTGCCATGCAAGAAAGCGTTAATGGCAAATAGGGCACGTAGCCACACTCCGTCGTTCCTGCTTCCAAGCAAACCTTGTGCCAGGTTCCTCATTTCGCGAGGCTCCACTCTCTTGGGCTTCAGGCTGCCGCTGGGCCTCCAGCACCAAAGGGCAATAGGGGTCTGAGAGTCCGGGCCTCAGGCATCTTCAGGCCGCAGGTGGGTGGAGAATAACGCCCGCGCGTGGCAGCGGCCCAGGCCGTCTCAGCCGGATTTTTCCATCCCCGGGGTAGGCTTGGTCCCCTGTACACTCCAGCGGAACTACAACTCCCAGCACCGTGGCTGCCCGGACTCCCGGAAGCCGAATCCCGGCTGGGAGGAAGCAGCTGAGACCCGGCCAACAGACTGGGGGTTAATTTAGCCAGAAAAGGGGGCGGGAAGGGCTGTAGGGTACTTGTCAATTCGCCGCCATGAACGTGGTTTTTGCTGTGAAGCAGTACATTTCCAAAATGATAGAGGACAGCGGGCCTGGTATGAAAGTACTTCTCATGGATAAAGAGACG___ACTGGCATAGTGAGTATGGTATACACACAATCGGAGATTCTACAGAAGGAAGTGTACCTCTTTGAACGCATTGATTCTCAAAATCGAGAGATCATGAAACACCTGAAGGCAATTTGTTTTCTTCGACCTACAAAG___GAGAATGTGGATTATATTATTCAGGAGCTCCGAAGACCCAAATACACTATATATTTCATTT___ATTTCAGTAATGTGATCAGCAAGAGTGACGTGAAGTCATTGGCTGAAGCTGATGAACAGGAAGTTGTGGCTGAGGTTCAG___CAAGTGATAACTAAAGAATATGAACTGTTTGAATTCCGTCGGACAGAGGTTCCTCCATTGCTCCTTATTTTAGATCGCTGTGATGATGCCATCACCCCATTGCTAAACCAG___TGGACATATCAGGCCATGGTCCACGAACTACTAGGCATAAACAACAATCGGATTGATCTTTCCAGAGTGCCGGGAATCAGTAAAGACTTAAGAGAAGTGGTCCTATCTGCTGAAAATGATGAATTCTATGCTAAT___AATATGTACCTGAACTTTGCTGAGATTGGTAGCAATATAAAGAATCTCATGGAAGATTTTCAGAAGAAGAAACCAAAAGAACA)GCAAAAACTAGAATCAATAGCAGACATGAAG___GCGTTTGTTGAGAATTATCCACAGTTCAAGAAAATGTCTGGGACTGTTTCAAAGCATGTGACAGTGGTTGGAGAACTGTCTCGATTGGTCAGTGAACGGAATCTGCTGGAGGTTTCAGAGGTTGAGCAAGAACTGGCCTGTCAAAATGACCATTCTAGTGCTCTCCAG|GTACTGTACTCTCTCATCTGGATTCCCGAAGCTAGTGTAAAGGGATTTTCATGGGTAGATAGTGTTCAAAGTGATGTTTCTGCCAGTGGATGAGCTCTGAAATATCTTTTTCTACCATCTTGCTGATATAACTACAACTTTATTCCTTCTTTAATGGGCAAAATTGAATAAAAC MVYTQSEILQKEVYLFERIDSQNREIMKHLKAICFLRPTKENVDYIIQELRRPKYTIYFIYFSNVISKSDVKSLAEADEQEVVAEVQQVITKEYELFEFRRTEVPPLLLILDRCDDAITPLLNQWTYQAMVHELLGINNNRIDLSRVPGISKDLREVVLSAENDEFYANNMYLNFAEIGSNIKNLMEDFQKKKPKEQQKLESIADMKAFVENYPQFKKMSGTVSKHVTVVGELSRLVSERNLLEVSEVEQELACQNDHSSALQ|vlysliwipeasvkgfswvdsvqsdvsasg* 11BR031 ENSG00000132434.9 ENSG00000106078.19(58275),ENSG00000227233.1(7191) +/+ ./+ chr7:55366229 chr7:51375093 CDS/splice-site intergenic duplication 5 3 0 16 3 high out-of-frame . . . . ENSG00000132434.9 . ENST00000254770.2 . downstream upstream . ^(GGGCTGGCGCAGCAGGGGCCGGTGAAATGCAGGCTGACGACGGCGCGCCAGGGGCTGAGCTCGCCCCGGTCGGCGACGCGCACACACCTTGAGTGACAGCGACCTCTTCTCTACAGGTTTTCCCCGCGGGAGCGTGGCCCTAGCGGGCGTTCGGTTTTCTTTGGAAATCGCGGAGGGGGCTGGCCGGGCGCAGCGATCCCCACCCCGGGACTCCAGCCCCGGCCGTGCGCGTCGCCGCGGACGGGCTCTGCGGGCCACGGGGAAGGTGCGAGGAGGCGCGAGCAGGCTGTGAGCCGCTGGGCGCTCCCGCGAGCCCGCTCCTCTCCGTCGGGAGCAGGGCAAAGGCGCCAGGAACAGGGCAGAGGCACAGCGCCCACCGCCTCTGCGGCCGCCTGATGTGCGAGCAGCCCGCGACGAGGCAGTGCACGCTCAGACGCCCCGCTCCTCCCGCCAGCGCGCGGCCTCGCTCCTCCTAGAGGACGCTCTCTGCGCGGGCCCTCGGAGGAGGCGGCGGCGGGGCGAGCTGCAGCGCCGGGACAGGAGGTTTGTCCCCGCCCGCGCGCCGTACCGCGGCGGAGATGGGCGAGACCATGTCAAAGAGGCTGAA)GCTCCACCTGGGAGGGGAGGCAGAAATGGAGGAACGGGCGTTCGTCAACCCCTTCCCGGACTACGAGGCCGCCGCCGGGGCGCTGCTCGCCTCCGGAGCGGCCGAAGAGACAGGCTGTGTTCGTCCCCCGGCGACCACGGATGAGCCCGGCCTCCCTTTTCATCAGGACGGGAAG|GTGAGGAAAGAAGTGATTCAATGGCCAAAGGATTGCCCTGTCACATCTAGGAGGCGAAGGCAGTGCAATAAAG MGETMSKRLKLHLGGEAEMEERAFVNPFPDYEAAAGALLASGAAEETGCVRPPATTDEPGLPFHQDGK|vrkeviqwpkdcpvtsrrrrqcnk 11BR031 ENSG00000288546.1 ENSG00000127952.17 -/+ -/- chrX:23075718 chr7:76005402 intron CDS/splice-site translocation/3'-3' 1 4 0 4 96 high . . |Dual_specificity_phosphatase__catalytic_domain(100%) . . ENSG00000288546.1 ENSG00000127952.17 . ENST00000360591.7 downstream downstream . CTCCCGTCGGCCTCCGGCAGGACTGAGCGCTGGGAgGCCGGAAGGCGGGCGCGCACGGCGGAGAGGCGGGCGGGAGGCCGGA|ACTGGATGCATTTCAGCCATACCCCATTGAAATCGTGCCAGGGAAGGTCTTCGTTGGCAATTTCAGTCAAGCCTGTGACCCCAAGATTCAGAAGGACTTGAAAATCAAAGCCCATGTCAATGTCTCCATGGATACAGGGCCCTT___TTTTGCAGGCGATGCTGACAAGCTTCTGCACATCCGGATAGAAGATTCCCCGGAAGCCCAGATTCTTCCCTTCTTACGCCACATGTGTC(ACTTCATTG___AAATTCACCATCACCTTGGCTCTGTCATTCTGATCTTTTCCACCCAAGGTATCAGCCGCAGTTGTGCCGCCATCATAGCCTACCTCATGCATAGTAACGAGCAGACCTTGCAG___AGGTCCTGGGCCTATGTCAAGAAGTGCAAAAACAACATGTGTCCAAATCGGGGATTGGTGAGCCAGCTGCTGGAATGGGAGAAGACTATCCTTGGAGATTCCATCACAAACATCATGGATCCGCTCTACTGATCTTCTCCGAGGCCCACCGAAGGGTACTGAAGAGCCTCACCTGGGGGCATTTTGTGGGTGGAGGGCCAGAGTGTGTATACCCAGGCTTGTCTGGAAGGAGAAGGCCTTTGCTGCCTGAAAGTCTCATGTT)$ . 11BR031 ENSG00000106554.13 ENSG00000262801.6 -/- +/+ chr7:132838399 chr16:13474210 CDS/splice-site exon/splice-site translocation 4 1 0 116 9 high out-of-frame . Protein_of_unknown_function_(DUF737)(100%)| . . ENSG00000106554.13 ENSG00000262801.6 ENST00000262570.10 ENST00000669271.1 upstream upstream . ^(AGGACCGGCGCCTTCTCCTTGCTTCTGGGGGTCGTGGCCTTGCTCCCGCTGTGCGGGAAAAGAATCCAGGCCCTTCCACGCGCGTGTGGGTGCGGGGGCCCCGAAGTGCTCGTGGTTCCCCGCTAGGTCTCCGCTGGGGCAGGAACCGGAATCATGGGTGGGACCACCAGCACCCGCCGGGTCACCTTCGAGGCGGACGAGAATGAGAACATCACCGTGGTGAAGGGCATCCGG___CTTTCGGAAAATGTGATTGATCGAATGAAGGAATCCTCTCCATCTGGTTCGAAGTCTCAGCGGTATTCTGGTGCTTATGGTGCCTCAG___TTTCTGATGAAGAATTGAAAAGAAGAGTAGCTGAGGAGCTGGCATTGGAGCAAGCCAAGAAAGAATCCGAAGATCAGAAACG___ACTAAAGCAAGCCAAAGAGCTGGACCGAGAGAGGGCTGCTGCCAATGAGCAGTTAACCAGAGCCATCCTTCGGGAGAGGATATGTAGCGAGGAGGAACGCGCTAAGGCAAAGCACCTG___GCTAGGCAGCTGGAAGA)GAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGG___AGCTCAGAGTTCTACAGAGTCACCACTGAACAATATCAGAAAGCTGCTGAAGAGGTGGAAGCAAAGTTCAA|GTAACAGAATATTGGCATGTAGCACTCCTCAAAACATAGAAAGCAGAAACAAATCAATTCTGCCTGGAGGACCTCCCCGATCTCAACACCCAGTGGTTTTGACAGAATTGATATAGAAATAGAAGCTTCAAGGTGGG(AACTTTTTATTTAATGCAAAGTAATATACGATTTAAGAAAC)$ MGGTTSTRRVTFEADENENITVVKGIRLSENVIDRMKESSPSGSKSQRYSGAYGASVSDEELKRRVAEELALEQAKKESEDQKRLKQAKELDRERAAANEQLTRAILRERICSEEERAKAKHLARQLEEKDRVLKKQDAFYKEQLARLEERSSEFYRVTTEQYQKAAEEVEAKFk|* 11BR031 ENSG00000100813.14 ENSG00000100523.16 -/- -/+ chr14:23061084 chr14:53129084 CDS/splice-site intron inversion/5'-5' 1 4 0 233 54 high out-of-frame . RNSP1-SAP18_binding_(RSB)_motif(100%),SAP_domain(100%)| . . ENSG00000100813.14 ENSG00000100523.16 ENST00000262710.5 . upstream upstream . ^(CTTTTCTCTCGAAGGGCACCCGAAGATTGTCACGAGTCCTTAGACTCCAACTACTGCGGCAGCTTCCAAATTTCCTGAAAACCCTAAGCTGGGCCAGCCCGGCAGCCCACGCACTTCCGGCCTCGGACCCGCCCCAAACACCCAAGCGCCCCAGCGCCTCATCTCTAGGTCCGGAAATAAACGAACATCTCCGATTATGGTTATACCAGGGTCGAGGGTTTCCGAATATATTCGATTCAAAGCTTCGGCAAGACGAAGAAAACCGAGCCTGAAAGCAGGGCGAGAAAAGGGGCGCTGCAGGGCGGATGGAAAGAATTGATTGGTAACGATGTGGAGACGGAAACATCCGAGGACATCCGGAGGAACCCGGGGAGTTCTGAGTGGTAATCGAGGGGTAGAGTATGGCAGTGGGCGGGGTCATCTCGGTACGTTCGAAGGGCGTTGGCGGAAATTACCGAAGATGCCCGAAGCCGTCGGGACGGACCCGAGTACCTCACGCAAGATGGCGGAGCTGGAGGAGGTGACTCTGGACGGGAAGCCTCTTCAGGCGCTGCGGGTGACCGACCTGAAGGCCGCACTGGAGCAGCGAGGCCTAGCCAAGAGCGGGCAGAAGAGTGCCCTGGTCAAGCGGCTCAAAGGG___GCTCTAATGCTAGAAAATTTACAGAAACACTCAACACCCCATGCTGCATTCCAGCCAAATTCCCAG___ATTGGTGAGGAAATGAGCCAGAACAGTTTCATAAAACAGTATCTGGAAAAGCAGCAGGAGCTACTTAGGCAGCGTCTGGAACGTGAAGCTCGAGAAGCTGCAGAACTTGAAG___AAGCTTCAGCTGAGTCGGAGGACGAGATGATCCATCCTGAGGGAGTGGCTTCCCTGCTGCCTCCTGACTTTCAGAGCAGCCTGGAGAGACCAGAGCTGGAGCTCAGCAGACATTCGCCCA___GAAAAAGCTCCTCAATTTCTGAAGAGAAAGGTGACTCTGATGATGAGAAACCAAGGAAAGGAGAAAGACGATCATCTAGGGTCAGACAG___GCAAGAGCAGCTAAACTGTCTGAGGGCAGCCAACCTGCTGAGGAGGAAGAGGATCAAGAAACACCTTCCAGAAACCTAAGGGTCAGAGCAGATCGAAATTTGAAAACAGAGGAGGAAGAAGAGGAGGAGGAGGAGGAGGAAGAAGATGATGAAGAAGAGGAAGGTGATGATGAGGGACAAAAATCTAGGGAGGCACCAATCCTGAAAGAGTTTAAGGAAGAAGGGGAAGAGATACCTAGAGTAAAACCAGAGGAGATGATGGATGAGAGACCCAAAACAAGATCCCAGGAACAGGAGGTGTTAGAGAGAGGAGGGAGATTTACAAGATCCCAGGAAGAGGCTAGAAAAAGTCATCTGGCCAGACAGCAGCAGGAGAAGGAAATGAAAACAACATCTCCCCTTGAGGAGGAAGAAAGAGAAATAAAATCTTCACAAGGCTTAAAGGAAAAATCGAAGTCTCCTTCCCCTCCTCGACTGACTGAAGATCGAAAGAAGGCCTCACTTGTAGCGCTGCCAGAGCAAACTGCCAGCGAGGAGGAGACTCCTCCACCTTTACTAACAAAGGAAGCATCTTCTCCACCACCTCATCCACAGCTCCATAGCGAAGAAGAAATAGAGCCCATGGAAGGCCCAGCCCCCGCTGTCCTCATTCAGTTATCTCCTCCTAATACAGATGCTGACACCAGGGAGCTATTAGTATCTCAGCATACTGTCCAGTTGGTAGGAGGCCTGTCTCCTTTGTCAAGTCCTTCAGACACCAAAGCAGAATCTCCAGCAGAGAAAGTGCCAGAGGAGAGTGTCCTGCCTCTGGTTCAGAAAAGCACACTGGCTGACTACTCAGCCCAGAAGGATCTTGAACCTGAGTCAGACAGATCTGCTCAGCCCCTCCCTCTAAAAATTGAGGAATTAGCACTGGCCAAAGGAATCACTGAAGAATGTCTGAAACAGCCATCTTTGGAACAGAAGGAAGGCAGAAGAGCTTCTCATACCCTTCTCCCAAGCCACAGATTGAAACAGTCAGCTGATTCATCCTCTAGCCGGTCCTCCTCATCTTCCTCCTCCAGTTCTAGATCAAGATCTCGCTCTCCTGACAGTTCAGGTTCTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAGGTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACCAGTGCCACAACTGCAGGTCTGTGAGCCAAAGGAGAGGACTTCCACCTCCTCATCCTCTGTCCAAGCAAGGCGTCTGAGTCAGCCTGAATCAGCTGAAAAGCATGTGACCCAGAGGTTACAGCCTGAGCGG___GGGAGCCCAAAGAAGTGTGAAGCTGAAGAGGCAGAGCCACCAGCTGCCACACAGCCCCAAACCTCAGAGACTCAGACCTCTCATCTGCCAGAATCAGAAAGAATTCATCACACTGT___TGAGGAGAAGGAGGAAGTGACCATGGACACAAGTGAAAACAGACCTGAAAATGATGTTCCAGAACCTCCCATGCCTATTGCAGACCAAGTCAGCAATGATGACCGCCCGGAGGGCAGTGTTGAAGATGAGGAGAAGAAAGAG___AGCTCGCTGCCCAAATCATTCAAGAGGAAGATCTCCGTTGTCT___CAGCTACCAAGGGGGTGCCAGCTGGAAACAGTGACACAGAGGGGGGCCAGCCTGGTCGGAAACGACGCTGGGGAGCCAGCACAGCCACCACACAGAAGAAACCTTCCATCAGTATCACCACTGAATCACTAAAG___AGCCTCATCCCCGACATCAAACCCCTGGCGGGGCAGGAGGCTGTTGTGGATCTTCATGCTGATGACTCTCGCATCTCTGAGGATGAGACAGAGCGTAATGGCGATGATGGGACCCATGACAAGGGGCTGAAAATATGCCGGACAGTCACTCAG___GTAGTACCTGCAGAGGGCCAGGAGAATGGGCAGAGGGAAGAAGAGGAAGAAGAGAAGGAACCTGAAGCAGAACCTCCTGTACCTCCCCAGGTGTCAGTAGAGGTGGCCTTGCCCCCACCTGCAGAGCATGAAGTAAAGAAAG___TGACTTTAGGAGATACCTTAACTCGACGTTCCATTAGCCAGCAGAAGTCCGGAGTTTCCATTACCATTGATGACCCAGTCCGAACTGCCCAGGTGCCCTCCCCACCCCGGGGCAAGATTAGCAACATTGTCCATATCTCCAATTTG___GTCCGTCCTTTCACTTTAGGCCAGCTAAAGGAGTTGTTGGGGCGCACAGGAACCTTGGTGGAAGAGGCCTTCTGGATTGACAAGATCAAATCTCATTGCTTTGTAACG___TACTCAACAGTAGAGGAAGCTGTTGCCACCCGCACAGCTCTGCACGGGGTCAAATGGCCCCAGTCCAATCCCAAATTCCTTTGTGCTGACTATGCCGAGCAAGATGAG___CTGGATTATCACCGAGGCCTCTTGGTGGACCGTCCCTCTGAAACTAAGACAGAGGAGCAGGGAATACCACGGCCCCTGCACCCCCCACCCCCACCCCCGGTCCAGCCACCACAGCACCCCCGGGCAGAGCAGCGGGAGCAGGAACGGGCAGTGCGGGAACAGTGGGCAGAACGGGAACGGGAAATGGAGCGGCGGGAGCGGACTCGATCAGAGCGTGAATGGGATCGGGACAAAGTTCGAGAAGGGCCCCGTTCCCGATCAAGGTCCCGTGACCGCCGCCGCAAGGAACGTGCGAAGTCTAAAGAAAAGAAGAGTGAGAA)GAAAG___AGAAAGCCCAGGAGGAACCACCTGCCAAGCTGCTGGATGACCTTTTCCGAAAGACCAAGGCAGCTCCCTGCATCTATTGGCTCCCACTGACTaACAGCCAG|ACTCAGCCAACCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTGGTGGACTCTCTTCAAATGGACGTGCATGACATTTGGTGCCGAAGACCCGGGACAGGGGGACTCCTTTGGGAGACCAGCCCCCTGTCCTTGCCCTCACTCCGTGAGGAGATCCACCTATGACCTCAGGTCCTCAGACCAACCAGCCCAAGGAACATCTCAC MWRRKHPRTSGGTRGVLSGNRGVEYGSGRGHLGTFEGRWRKLPKMPEAVGTDPSTSRKMAELEEVTLDGKPLQALRVTDLKAALEQRGLAKSGQKSALVKRLKGALMLENLQKHSTPHAAFQPNSQIGEEMSQNSFIKQYLEKQQELLRQRLEREAREAAELEEASAESEDEMIHPEGVASLLPPDFQSSLERPELELSRHSPRKSSSISEEKGDSDDEKPRKGERRSSRVRQARAAKLSEGSQPAEEEEDQETPSRNLRVRADRNLKTEEEEEEEEEEEEDDEEEEGDDEGQKSREAPILKEFKEEGEEIPRVKPEEMMDERPKTRSQEQEVLERGGRFTRSQEEARKSHLARQQQEKEMKTTSPLEEEEREIKSSQGLKEKSKSPSPPRLTEDRKKASLVALPEQTASEEETPPPLLTKEASSPPPHPQLHSEEEIEPMEGPAPAVLIQLSPPNTDADTRELLVSQHTVQLVGGLSPLSSPSDTKAESPAEKVPEESVLPLVQKSTLADYSAQKDLEPESDRSAQPLPLKIEELALAKGITEECLKQPSLEQKEGRRASHTLLPSHRLKQSADSSSSRSSSSSSSSSRSRSRSPDSSGSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPVPQLQVCEPKERTSTSSSSVQARRLSQPESAEKHVTQRLQPERGSPKKCEAEEAEPPAATQPQTSETQTSHLPESERIHHTVEEKEEVTMDTSENRPENDVPEPPMPIADQVSNDDRPEGSVEDEEKKESSLPKSFKRKISVVSATKGVPAGNSDTEGGQPGRKRRWGASTATTQKKPSISITTESLKSLIPDIKPLAGQEAVVDLHADDSRISEDETERNGDDGTHDKGLKICRTVTQVVPAEGQENGQREEEEEEKEPEAEPPVPPQVSVEVALPPPAEHEVKKVTLGDTLTRRSISQQKSGVSITIDDPVRTAQVPSPPRGKISNIVHISNLVRPFTLGQLKELLGRTGTLVEEAFWIDKIKSHCFVTYSTVEEAVATRTALHGVKWPQSNPKFLCADYAEQDELDYHRGLLVDRPSETKTEEQGIPRPLHPPPPPPVQPPQHPRAEQREQERAVREQWAEREREMERRERTRSEREWDRDKVREGPRSRSRSRDRRRKERAKSKEKKSEKKEKAQEEPPAKLLDDLFRKTKAAPCIYWLPLTnSQ|tqptctqvk* 11BR031 ENSG00000116991.10(12616),ENSG00000238382.1(126030) ENSG00000236497.2 ./- -/- chr1:232574174 chr1:232730781 intergenic exon/splice-site duplication 1 2 0 4 5 high . . . . . . ENSG00000236497.2 . ENST00000457698.1 upstream downstream duplicates(1) ACCCACTATATTATGCATCAGATTTTTAAACTCAGAACTGTCTACATTGGCTACAAAAATG___GTTCTTGCCAGGCTGTGTGAGCAGGAGCCCGCTGCTCTTCCCCACTCAG|AATAGAGTGATCTGTGATATCTTCCCACTAATCCCAAGTCAGGAGAGAGAGAGAATGAAGATCCATTGCTGTAGAGGAACAAACTGAACGTGTTGAAGGTCCCGCAAGGCCAATGTGGCTGGAATGCAGACACAAAGCC(AGGAGGAACAAGAGATGGGGCTGACAAGAGAGGCAGGAGTCAGATCTCATGGGAACTGTCACCTGCAG___TGTTGCAGACCTCTTTGAATACACCATGAGCACTGTGGATTCTCGCCTCTGGAGAATAAAAATCACATACAGAAAAGTTCAGACAACTTTAAGGAGTTTGAAGAATCCCTGCTAGTCGTGGACCCATCTGGGGTTGGTGGATTCCTCACCATGACTCTTTGGATTCAGAAGTCATATAAGATGCAGTTTAACAAATATTGGAAGTCAAATGAGCATTCTGCGGAAAAACAGCTTCTTCCATACATCATCTTCTGGAATATCCCAGATCTGGAAGAGGTCACAGGAATGTCCATTCATAGGGAGCTCTACCTGGAGCTCAGAGATGATTGAGAGAGGGTATTCATCATGGATGTGTCCAAGTGAAGGTAGTTTGGAAAGAAACAAAGTTACCCTTTTTTCTCACTAAACATCTTAGGGTCCCCATTAGCAGGAAGGAAGGAAGAGGACAGGTGAGCTCCCTGGTATTGATGTATTTACAGAGAACCTAGGCATCAGCCATACATACAGAGGACACTCATTTGGCCAGAATTTGGGCTTTGACTTTAATTAAATTCCCTTGCTCCCAATAAGACCTCTCTTAATCTGAAAACAATTTGTCATAAGTGATGTACCTGCCAAGACCTCATGGCAAAGAGGCAGGGGGTACCTAGTAAATGTTGCTGACAAACTCCAGCATGACTCTAAAGGGACAGTGGCTTCCTTTGGATGGTCATGTGCTGCTGCTGGACATAGCAATCAGAAGGACAGTGGTGAACACCCAGGAGTGAACCAAGATGCAAAGTTCAAGTCCGAGGGAAGAAGGGTGCAGTGCGGAAGAAGGGAAGGCAGATGCTGCAGCCCTGCCTACAAGCAAGGAGGGAGCCATTAAGAGCCCCAAGCTGGCCAGGCGCAGTGGCTTGCGCCTGTATTCCTAATCCCGGCACTTTGGGAAGCCAAGGTGGACGGATCACCTGAGGTCAGGAGTTTGAGACCAGCTTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCCAGGAGGCTGAGGCAGAAGAATTGCTAGAATCCGGGAGGTAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAACAAAAAAGCCCCAAGCCTACTTTATCAGACAGAGGAATCAAGTTGTATTTCCTTCTCACCAAGAGACGCTGGAAAGCTGTAATCTTACACCAGTGGAGAAAGTGAGAGGAAAATAAACCCTTTCTAAGGATGAATCCTGAAAGCCTTTCACAGACAATGCTGCTTCTATAAGAATGACCTGTGATGGCTAAGCCATCACAGTCTTCATTCCAATTGACATTCTAGGTAAACCTGCGCACAACTTTTTCTGTGTATTTTCCAAAAAAGGATCATTTTATAAAGGCTCAAGTTATTTAC)$ . 11BR031 ENSG00000167528.12 ENSG00000151229.13 -/- -/+ chr12:48343373 chr12:39881117 CDS intron inversion/5'-5' 10 14 0 90 54 medium out-of-frame . KRAB_box(100%)| . . ENSG00000167528.12 ENSG00000151229.13 ENST00000544117.6 . upstream upstream duplicates(2) ^(GCCGGAGGGAGCTGCGGCTGGAGGGAGGGACGCCTGGCTTCCCGGGGCGGCTGGTGGGGGCTCGGTCACCCATAGGGGCTGGGAGGAGGATCGGCGCGTCTTCCGGGTTGCTGCCTTTCCCGGGGGTCTGCCCCGCTGACATTCTGTGCCCGCCTCTCGCCCTGTCTCCCCGTGCCCATCGCAACTGTCAGGCCCTGCGGGCTCCCGCCGCTGTCACTCGCGCACAGGTTACCCCGTGGCTCCCTTTCTCTTCACTTGCTCATGCCCCAGCTCATGGGAAACCTGTTTTCTGACCTCACTTCCCCTGCTCCAGTTCTGCCTTGCTCGGATTCTCTGAAATCTGACCCTTTCCAGGGGCACTGTGACAAGAAGAAGGGAAGAAGCAACCTTACCCCTGAGCAGGCTCCCGTCCCGCCCATGCCCTACCCGTGGCAGGGGCCAGGGTTCTCTGATGGACGGAGCCAACTCGTCCGTGTGCCCTTGGGCTACTCATTTTTATAACATGGCCCCTTTTCTGTTCATCAGCACTGGCTGCAGAAACTTCCTTTTGCAGGTCCCTTGCTACCCATATGTGTGAAGAAAAGGGGGAAATGAAAGCCCTAGAACCCACACTGCAGTGGGCATGGGATCATCCTGGAACCAGGAGAAACGAGGTTAGGGCTACCACCTTAACCGCCCAGGTGCTGGCTCTGCGTGAATATCTTAGGAAATGCAAGCTGAGGACAG___GTCACAATTTGGGTCTGCAGCAGAAATGCTTTCAGAACAGACAGCAGCGCTGGGGACAGGATGGGAATCAATGAATGTACAGCTGGATGGAGCAGAGCCCCAGGTGGAAAGGGGAAGCCAGGAAGAGCGGCCATGGAGAACAGTACCAGGACCTCTGGAGCACCTGTGCTGTGACCTTGAAGAGGAGCCACAGTCCCTTCAGGAGAAGG___CTCAGTCTGCTCCCTGGGTTCCTGCAATTCCCCAGGAGGGGAACACTGGAGACTGGGAGATGGCAGCTGCACTTCTTGCGGCTGGATCACAG___GGCCTGGTAACCATCAAGGATGTGTCACTGTGCTTCTCTCAGGAGGAGTGGCGGAGCCTGGACCCCTCTCAGACAGACTTTTATGGAGAATATGTCATGCAGGAAAACTGTGGGATAGTAGTCTCTCTGA___GATTTCCAATTCCCAAACTGGACATGCTTTCTCAACTAGAAGGAGGAGAAGAACAATGGGTCCCTGACCCCCAGGACTTAGAGGAGAGGGACATTCTGAGGGTCACATATACAG___GAGATGGAAGTGAACATGAGGGGGATACCCCTGAACTAGAAGCAGAACCTCCCAGAATGTTATCCAGCGTGTCTGAAGATACTGTTCTCTGGAACCCGGAGCATGATGAGAGCTGGGATTCCATGCCCAGCAGCTCCAGAGGAATGCTCCTGGGGCCCCCTTTTCTTCAGGAAGATA)GTTTCTtAAACCTGCTGTGTAGCACAGAGATGGATTtCCTGTTAAGACCCCACACATGCCCCCAGTGTGGGAAACAGTTTGTATGGGGTTCCCACCTTGCCAGGCATCAACAAACACACACTGGGGAGAGACCCTACAGCTGCCTCAAGTGTGAGAAGACCTTTGGGCGAAGACATCA|TTAAAAACAAAACTTCATGCTTTGGAAAAAGCCAATAAAGGTTGAGTTATTTTAAAAGTTGTGTGGGTAcCACAACCATAAAAAATTAGGGATAAGAGAGAAGTAAAAGTCTAGAAAGATTTTGCCCTTGGGTTTCTTCATATGTGTCTTTCAGTTCTGGTTTACTTGAAAGCCTGGAATTCATAGATGACAATATGAGTGTGGTTTATGTT-AAAAAAAAACAATCTGGAAACTCAAACAGTGGA MQAEDRSQFGSAAEMLSEQTAALGTGWESMNVQLDGAEPQVERGSQEERPWRTVPGPLEHLCCDLEEEPQSLQEKAQSAPWVPAIPQEGNTGDWEMAAALLAAGSQGLVTIKDVSLCFSQEEWRSLDPSQTDFYGEYVMQENCGIVVSLRFPIPKLDMLSQLEGGEEQWVPDPQDLEERDILRVTYTGDGSEHEGDTPELEAEPPRMLSSVSEDTVLWNPEHDESWDSMPSSSRGMLLGPPFLQEDSFlNLLCSTEMDfLLRPHTCPQCGKQFVWGSHLARHQQTHTGERPYSCLKCEKTFGRRHh|* 11BR031 ENSG00000258643.5 ENSG00000126814.7 +/+ -/- chr14:23319987 chr14:60974016 intron 3'UTR inversion 13 7 0 22 25 medium . . Apoptosis_regulator_proteins__Bcl-2_family(100%),Bcl-2_homology_region_4(100%)| . . ENSG00000258643.5 ENSG00000126814.7 . ENST00000261249.7 downstream downstream duplicates(3) TTCAAAGCCATTTTTAAAAATCACATTTCCTTTTGTTGGCTTGATTAAATTGGGTACCAATAAGATTAACAAATCTTGATTAGGTTAAGATTAGTATAAAAGACCTTTCTTCCAGGGTATTCAATCATTTAGAGCTTGTCTTCGGTGCTC...GGGGAATAGTGGGGTATAATGAGTCACTTGATTTTTTGGTTTGCTAATGAGGATCTTCTCTTGTCCAAATCCCTCGGCCAACCATGTTTGTTTAACTTTTTGGTTGGGCTATATGTATCTTTCGAAC|ATTACCAGACAAACCACTCATCACAGTATTCCCAACTCACAGGCAAGCAACTGTTAGAAAAATTAGAAAATTTAAAATaGAAATAACAAAGCAGAATTTCTTCACAAAATGAAAATGAGGCTGCAACAACAGTAAGTCTCTAAGTCAATCATTTGTTAGCCAAGCAAAGCC(ATTTATTGATGGTGTGAATTAATTATGTTTGGATGCAGCAGCTGAATATATCCAGAGAAAATAAACTTAAGATTACTGGCCTTTGGCAAGAACAGTTGCTTAAAGAGTTAAGGACATTGAAAGCGACATAAATAGTCACTTTAAAAAGGAAATGATTCTGGATGGTTCTTTGACTCTATTTTTATTTTTACTTAGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGAGACACAGTTACACCTCAATGTAACCTTGAACTCCTAGGCTTGAGATCTTCCCATCTCGGCTTCCCAATGTGTGAAGGTTACAGGTGTGAGCCCTTATATGTGGCCCTCGTGAATGGTTTAGCACTATCCCCTTGGTGGTGTCCTTAAGATAATGAGTTATGAGATCTTGTTGTTTCAAAGTATGTGGCACTCGCCCCCCACACTCTCTTGCTCCTGCCTTCGCCATGTGAAGTGCCTTCTCCTATTTTGCCTTCTACCATGAGTAAAAGCTTCCTGAGGCTTCCCCAGAAGCAGATGCCAGTGCTATGCTTCCTATAGCCTGGAGAACTGTGAGCCAATTATACCTCTTTTCTTATAAATTACCCAGTATCAAGTATTTCTTTATAGCAATGCAAGAATGGCCTAAAACACAAGGCAAAACAACTTTGATATGGTACAGTCATTTTGACAATCGATATTTGAATCACAATATTTGATGACAATATCCTTACACATTTGTCATACTATCAAAGAGAAAGAAACAAGATTTCCATTCCCACAAATTTTAGTGAGTATATTTTCTGAGTTCAGCATTTTTAGGGACCTAGGTGCAAGTGCAAAGGAAATTTCCCTGTTTCAAAATCTATTTAACTGCAATTGAGGTGATTCAACCTAATTTTCAGTAAGAAGTGATTAAAATAATGACATGCTAAAAGGCAAATTTCAAGGGAAGAAATGTAAAAGAATTTTACAAATGCTTTCCAAGTGATGAATATGCTCAGTTAATTTCATATGCTCCTGGATTGATAGCAGTATTTGGCAATACCTATCTGTATGAGAAGACATTTTTAAAGATGAAATGTGTAAAATCTTATTACCATTAGTATTAATGGTTAATGATGGTTAATGATAACCATTAATAGGCAATCATTTACAACTGATTTTGATCACAGGGAACACTTACTTAGAACCCTGATTAGAGGCAATGTTATTCTCACCAAAAAAGGCATTACAAAAAATTGGGCTATATTTTGAATTTTGTCAATTAAAAAAGCGTGGGAGCAGTGTGAAGGAGAAGAGGCAAGAACGACCCCTGGACCGACCAAAGCCCGCGCGCTGCTGCGTCCCACACCCGGTGCCCACATCCCGCCGCCGCCGCCGCCGCCATGCCCAAGAGAAAGACTGAAGGGGATGCTAAAGGAGATAAAGCCAAGGTGAAGGATGAATCACAGAGAAGATCTGCGAGGTTGTCTGCTAAACCTGCTCCTCCAAAGCCAGAGCCCAAGCCTAAAAAGGCCCCTGCAAAGAAGGGAGAGAAGGTACCCAAAGGGAAAAAGAGAAAAGCTGATGCTGGCAAGGAGCGGGAAGGTGCTGGAGATCCCAAGTGAAGTGTGTGCATTTTTTATAACTGTACTTCTGGTGACTGTACAGTTTGAAATATTCTTTATCAAGTTTTATAAAAATGCAGAATTTTGTTTTACTTTTTTTAAGCTATGTTGTTAGCACACAGAACACTTCATTGTTGTTTTTGGGGGAAGGGGTATGTGTCACTAATAGAATATCTCTGAAGCTGGATTGATACGGGGAAAACATCTTTCCCTTCTAGTTTTGAGAGACTTCCTCTTGGCTCCCAGGAGGAGGGATTTCCTGACTTTGACACACATGGCCACCTTGGCACAAAAGCCTTGTGGTATGGAAAAACAAATTCGTTTTTATGTCTTCTTTTCCCTTTCCATCTTTCAGCATAGACTTAATCCCCTTAAGCCCAGACATCTGTTGGGACCTGACCCCCGGTCATTGGTTACCAGTGTGTCTGGCAATCTGGACTTTCCAGTGATGCCACTGAGATGGCACCTGTCAAAAGAGCAGTGGTTCCATTTCTAGATTATGGATCTTCGGATAAATTCTGCCATTTTCATTTCACTTCCTGAAAGTCAGGGTTGGCTTGTGAAAAGTTGTTAAACAACATGCTAAATGTGAAATGTTAACCCTCTAAACTTTCCCTGTTCAGAGCATCAGATGAGGACTTCATTGGGTTTTATAGCGGCTGATTTTTGGTAGTCCATTGAAGAAGAGAGTTTGAAAGTTGTATACTGTTAATGACTGTCTGCCCATGTCCTGCCTGAAATACCATGATTGTTTATGGAAAGTATCTTTAATAAAGCTGGATACAGTTTGAAAGAAAAAAAAAA)$ . 11BR031 ENSG00000081181.8 ENSG00000081181.8 +/- +/- chr14:67650850 chr14:67650875 CDS CDS duplication 7 13 0 53 61 medium . . . . . ENSG00000081181.8 ENSG00000081181.8 . . upstream downstream duplicates(1) GTCACCAAAATAGAGGGGAAACTTTACAATTGTGAGAATGTGTAAATGTTCTCATTAAGGCAGTATTGACCCAGACAACCATTTAGTATTCATCTATCCCCTCAATGCCTCATAATTCTGGAATGCCTGTTGTGAAACATGTCAGTGCACAGTGTCTCCTAAATTCTCACACGTGCTTGATTTTCTGATTCATCTGGTGAACTGGGAGTAGGAAGTTGGTCATAGACAA|GGGAGTAGGAAGTTGGTCATAGACAATATGCCCTCCTTCTCTTGTCTGACCAAAGCTTGAAGCAATCACATCTACTGCCAGGTTAGCTGTAGTCTTCGCCTCTTCCTCTGAGGTGGCCAACTGAGGATTGACTTCAAC . 11BR031 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51877282 chr19:51855967 CDS/splice-site intergenic deletion/read-through 11 5 0 368 271 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream duplicates(1),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAA)GGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAGACCATCAGCCTTCAACCACCACCCTTGTATCAGAGGAGACAAATAAGCTTGGAAATCCTCAAAAAGCCTCATCCTCAGAGCAATGTCATTATATATCTTGTCTTACA MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|dlhyrwktaasepq* 11BR031 ENSG00000133195.11 ENSG00000187013.4(6948),ENSG00000121075.11(32194) -/- ./- chr17:72849634 chr17:61420228 CDS/splice-site intergenic deletion 15 0 0 171 23 medium out-of-frame . . . . ENSG00000133195.11 . ENST00000255559.7 . upstream downstream . ^(GAAGTGACTGCGGGAGTGGAGCCGGCGAGAGAGTGGCAGCGGGGGCTGATGGAAGTGCAGTGGGGGCTGGAGAGGGCACCCTA___CTGTATCCAGCATGCTCCAAGGCCACAGCTCTGTGTTCCAGGCCTTGCTGGGGACCTTCTTCACCTGGGGGATGACAGCAGCTGGGGCAGCTCTCGTGTTCGTATTCTCTAGTGGACAG___AGGCGGATCTTAGATGGAAGTCTTGGCTTTGCTGCAGGG___GTCATGTTGGCAGCTTCCTATTGGTCTCTTCTGGCCCCAGCAGTTGAGATGGCCACGTCCTCTGGGGGCTTCGGTGCCTTTGCCTTCTTCCCTGTGGCT)GTTGGCTTCACCCTTGGAGCGGCTTTTGTCTACTTGGCTGACCTCCTGATGCCTCACTTG___GGTGCAGCAGAAGACCCCCAGACGgCCCTGGCACTGAACTTCGGCTCTACGTTGATGAAGAAGAAGTCTGATCCTGAGGGTCCCGCGCTGCTCTTCCCTGAGAGTGAACTTTCCATCCGGATAG___ACAAGAGTGAGAATGGTGAGGCATATCAGAGAAAGAAGGCGGCAGCCACTGGCCTTCCAGAGGGTCCTGCTGTCCCTGTGCCTTCTCGAGGGAATCTGGCACAGCCCGGCGGCAGCAGCTGGAGGAGGATCGCACTGCTCATCTTGGCCATCACTATACACAACGTTCCAG|CTGCCTGCAGCCAAGCCCCCTGCCACATGAAGAAGCCCATCTGTGGTAGGAGAGAGTGATGCCAACACACAGAGAAAAGAAACGAGAGAGAAAGCAGAGAGAGAGAGACAGAGAGAGCGAGCATTCTGAAG MLQGHSSVFQALLGTFFTWGMTAAGAALVFVFSSGQRRILDGSLGFAAGVMLAASYWSLLAPAVEMATSSGGFGAFAFFPVAVGFTLGAAFVYLADLLMPHLGAAEDPQTaLALNFGSTLMKKKSDPEGPALLFPESELSIRIDKSENGEAYQRKKAAATGLPEGPAVPVPSRGNLAQPGGSSWRRIALLILAITIHNVP|aacsqapchmkkpicgrre* 11BR031 ENSG00000141579.7 ENSG00000188803.15 -/- +/+ chr17:82830222 chr17:11563883 CDS 3'UTR inversion 9 1 0 33 14 medium out-of-frame . Zinc-finger(100%)| . . ENSG00000141579.7 ENSG00000188803.15 ENST00000269394.4 ENST00000441885.8 upstream upstream duplicates(1) ^(AGTTTCACCCAGCAAGCGTGAGAACAGGTACTGCTTCCTGAGCACCGCCAGCCACCGGCACCAAGACCGGCCACATCCCAGCACTGCCCACCTCTG___CTCCCAGCCGCCAGATGACGGAGGCTCTCGCCAGACCCTCAGCACGCAGAGCTGGCTTCTGATAGAAGTGATCGGGAAAGAAAGCAAAGCGGGAGGTGCCTCTTTAGAAACCACGAAGTGCACGCGGCGTCGACAGTGATCACGCCACCTGGACAGCCAGAGTCCAAGGCATAAGGAGGAAAATGAGTCTCCTCAAAGAGCGGAAGCCAAAAAAGCCACATTACATCCCCAGGCCTCCAGGAAAGCCCTTCAAGTATAAATGTTTCCAATGTCCCTTTACTTGCAATGAGAAGTCACATCTTTTTAATCACATGAAGTATGGTCTTTGTAAAAACTCGATTACTTTAGTATCAGAGCAGGATCGAGTTCCCAAGTGCCCTAAATCTAACTCACTAGACCCCAAGCAAACCAACCAGCCCGATGCCACGGCGAAGCCAGCCTCTTCCAAGTCTGTCGCAAATGGACTCTCTGCCTTCGACTCGAAGCTTCAGCACAGCTCTGCCAGGGAAGACATCAAGGAAAACCTGGAGCTGCAAGCCCGGGGAACCCACAGGTGCCTGGGACAGAAGCCAGCCCTCCACAGGGCATCACCCTGCAAGAGCCCAGCTCCGGAAGCCGCCCTCGGTGCCCAGCCTGCTCTGGAAGGCGCAGCTCGGCCTTCTGCATTTGTTCCAGTCGGCGAGCACAGACTCAAGGGGCCAGACAACGCCGAGGCGCCCGAGACACTGGCTTTACACAACCCCACTGCCAAGGCCGTGTCTTTCCACACCAAGTCGGCCTTCCACACTCCTGGCTACCCCTGGAAAGCCGGCTCACCTTTCCTTCCACCAGAGTTTCCACATAAAATCTCATCTACAAAGGGGCTTGGGGCCATTTCCCCTTACATGCACCCCACAATCCCAGAGTACCCGCCTCACTTTTACACAGAGCACGGGCTGGCCACCATCTACTCGCCTTACCTGCTGGCTGGGAGCTCGCCTGAGTGTGACGCACCCCTGCTGTCAGTCTACGGAACCCAAGACCCGAGACACTTCCTGCCTCACCCGGGGCCGATCCCTAAGCACCTGGCTCCATCTCCAGCCACATACGATCACTACAGGTTTTTCCAGCAATATCCCTCTAACCTGCCGATTCCTTACGGATTTTACAGGCCAGAGTCTGCATTTTCCTCCTATGGTCTCAGACTCCCACCTGTCACTGGCCTCACCCGAGATCAGAGCTCTCACCTGCTTGAAGAAGCCACCCTGGTCTATCCAGCCTCGAGTCCTTCCAGGTTAAACCCTTCGGACCCCAACAGAAAACACGTCGAGTTCGAAAGTCCAATTCCTGAGGCTAAAGACTCCTCCAAGGCTGGGCAGAGAGACACGGAAGGGTCCAAAATGAGCCCCCGCGCAGGGAGTGCAGCCACGGGCTCCCCAGGGAGGCCGAGCCCCACCGACTTCATGCAGACGAGCCAGACCTGCGAAGGCCTGTACGACCTCTCCAACAAGGCAGCCTCCAGCGCACTGGGAAGACTCTACCCGCCAGAGCAAAGCCTCACAGCCTTCAGGCCTGTTAAGAAAAGCACAGAATGCCTACCTGCCCAGGCTGCTGAGACCACAGCAGAGTCTCCAGTAAG___CCTCAATGTTGTGAACGGAGACCCTCCTGCTCCGACCGGAAGCGCCTCTCTCGTCTCGGAGGCCGCGCCTTCCAGTCCGGACGACAGCTCCGGGATGGGCCCCCTCAACCTCTCCAAGAAATCAGAGATAAACCTGGCAGCCACCCACGAACCCACGTACCAAGGCAGCCCCCAGGCGGAAACCGCCAGCTTCTCAGAGCTGCAGGACCTTCCACTCAATCTCTCGGTGAAGGACCCCTGTAACACCCAGGCTCCGAGGCCTGCCTTCCCCGGTCGACCACGAGCTGCAGAACCTGCTGCTGCTGTTCCACAGAAGACTGGGACAGAAGGTTCTGAGGATGGGCCCAGCCACCCTGAGACCAAGCCAGGCAGCCTCGACGGTGACGGGGCCCCACCCACAGGCCCCGGCGAGGAGGCTCCAGACGCATGCGCGGTGGACAGCAGCG)AGGAGCAGAAGCAGACGGCAGCCGTGGCCCTGTGCCAGCTGGCGGCCTACAGCCCCAGGAACATCCGGGTGGGCGATGGGGATGCTGCGGCCCCGGAACCTGCCTGCCGGCAAGACACACCCACACTGAGCTCCATGGAGAGCCAAGAGGCCCAGTGTGACCTCAGACCCAAAGGACAAAAGAGGACAAGTCTAAGGGATGCTGGAAAAT|GGTAAGCAGTGCTCTAGTAACTGCTTCTCTGTACAAATCTCATCGTTCTACTTACCTGTCAAAGCACATTCTACATGTACTGTAAACAGATACACTTTAGTAAGATTTAG(TCTTAAGGATTTTTCCACTTTTGTCAGTAACAGATATTTATGGATTAAAAAATAAAGCCGTTTCAACATAA)$ MSLLKERKPKKPHYIPRPPGKPFKYKCFQCPFTCNEKSHLFNHMKYGLCKNSITLVSEQDRVPKCPKSNSLDPKQTNQPDATAKPASSKSVANGLSAFDSKLQHSSAREDIKENLELQARGTHRCLGQKPALHRASPCKSPAPEAALGAQPALEGAARPSAFVPVGEHRLKGPDNAEAPETLALHNPTAKAVSFHTKSAFHTPGYPWKAGSPFLPPEFPHKISSTKGLGAISPYMHPTIPEYPPHFYTEHGLATIYSPYLLAGSSPECDAPLLSVYGTQDPRHFLPHPGPIPKHLAPSPATYDHYRFFQQYPSNLPIPYGFYRPESAFSSYGLRLPPVTGLTRDQSSHLLEEATLVYPASSPSRLNPSDPNRKHVEFESPIPEAKDSSKAGQRDTEGSKMSPRAGSAATGSPGRPSPTDFMQTSQTCEGLYDLSNKAASSALGRLYPPEQSLTAFRPVKKSTECLPAQAAETTAESPVSLNVVNGDPPAPTGSASLVSEAAPSSPDDSSGMGPLNLSKKSEINLAATHEPTYQGSPQAETASFSELQDLPLNLSVKDPCNTQAPRPAFPGRPRAAEPAAAVPQKTGTEGSEDGPSHPETKPGSLDGDGAPPTGPGEEAPDACAVDSSEEQKQTAAVALCQLAAYSPRNIRVGDGDAAAPEPACRQDTPTLSSMESQEAQCDLRPKGQKRTSLRDAGK|w* 11BR031 ENSG00000114988.11 ENSG00000197928.10 -/- -/+ chr2:96709937 chr19:53242197 intron 3'UTR translocation/5'-5' 1 4 0 6 29 medium . . Legume-like_lectin_family(100%)| . . ENSG00000114988.11 ENSG00000197928.10 . . upstream upstream . CATTGATCTGCTTTCTGTCATGCAGAGAGATTAGTTTTGGCAATTAGGTTCTAAGTACCGAGCAGGCCAGACCTGTGGGAAAAATTTAGTCTCGGCAGGGGGATAGGAGGCATAGGCTGGAGATCTTTGCTATATAATCTCATTATATGACTACACATTTTCCTTTGAGCTTACAGGTTTCTGGGTTAACCTCCTGACGTACTTTT|GCTGGGATTATAGGCGTGAGGCACCACGCCCATCCGGAATGTGTATTTCAAAAGCAACTTTCAGAGGCAAATgTTAGAAGAATATGGAATCAGGAAGACTAAGGTCTCCCTAAGTTCCCGGATAGAGTAGAAAGCTAGAAAAGGGAGAGAAATAAAAG . 11BR031 ENSG00000167642.13 ENSG00000173572.11(9655),ENSG00000179709.8(5841) +/+ ./- chr19:38264998 chr19:55941991 CDS/splice-site intergenic inversion 0 5 0 603 21 medium out-of-frame . . . . ENSG00000167642.13 . ENST00000301244.12 . downstream downstream . ^(GCCATTGGCTCTGGCGACCTCCGCGCGTTGGGAGGTGTAGCGCGGCTCTGAACGCGCTGAGGGCCGTTGAGTGTCGCAGGCGGCGAGGGCGCGAGTGAGGAGCAGACCCAGGCATCGCGCGCCGAGAAGGCCGGGCGTCCCCACACTGAAGGTCCGGAAAGGCGACTTCCGGGGGCTTTGGCACCTGGCGGACCCTCCCGGAGCGTCGGCACCTGAACGCGAGGCGCTCCATTGCGCGTGCGCGTTGAGGGGCTTCCCGCACCTGATCGCGAGACCCCAACGGCTGGTGGCGTCGCCTGCGCGTCTCGGCTGAGCTGG)CCATGGCGCAGCTGTGCGGGCTGAGGCGGAGCCGGGCGTTTCTCGCCCTGCTGGGATCGCTGCTCCTCTCTGGGGTCCTGGCGGCCGACCGAGAACGCAGCATCCACG|GAAACACAGAAGTTAATCACCGGAGACAAGCTCCAGATGCGTACAGCAGTGCGAGGGCGCCAGAAAAATCTACACAAGAAACCTTATGAACTAGCCCTCATCCTCCATTTTCTCCCCCATACATTTACCTTCTCACAATTTACCCCCCCAGGAATTCGAGG MAQLCGLRRSRAFLALLGSLLLSGVLAADRERSIH|gntevnhrrqapdayssarapekstqetl* 11BR031 ENSG00000141027.21 ENSG00000262898.3 -/- +/- chr17:16164207 chr17:83193861 intron intron duplication/5'-5' 1 3 0 3 9 medium out-of-frame . G-protein_pathway_suppressor_2-interacting_domain(100%)| . . ENSG00000141027.21 ENSG00000262898.3 ENST00000268712.8 . upstream downstream . ^(GAGTCAAGATGGCGGCCAAGGTGGCGAAGCAGCAGCCGCGGCGGCGGCGGCGGCTGGAGTGAGCGTCCGACTCGCCGCGCCGAACGAGGTCCCGGTGTAGGGCCGCGCGCCGTGGCCGCGTCCCACTCCTCAGGCCGGGGCGCACGTCGGCTCCCACGCTTAGCCAGCTCCCG___GTGGTTTCCTAGAAACATGATTGTTTATTGGCATTGATCTCACAGTCTGGTGAGGACTTCTTTACTGATAATGTCAAGTTCAGGTTATCCTCCCAACCAAGGAGCATTCAGCACAGAACAAAGTCGTTATCCTCCTCACTCTGTCCAGTATACATTTCCCAACACCCGCCACCAGCAG___GAGTTCGCAGTCCCTGATTATCGTTCCTCTCATCTTGAAGTGAGTCAGGCATCACAGCTTTTGCAGCAACAGCAGCAGCAACAGCTTCGAAGGCGACCTTCCTTGCTTTCAGAATTTCACCCAGGTTCTGACAG___GCCTCAAGAAAGGAGAACTAGTTATGAACCGTTTCATCCAGGCCCATCCCCAGTGGATCATGATTCACTGGAATCGAAGCGACCACGTCTGGAACAGGTTTCTGATTCTCATTTTCAGCGTGTCAGTGCTGCGGTTTTGCCTTTAGTGCACCCGCTGCCAGAAGGGCTGAGGGCTTCTGCAGATGCTAAGAAG___GATCCAGCATTCGGAGGCAAACATGAAGCTCCATCCTCTCCAATTTCGGGGCAACCATGTGGAGATGATCAAAATGCTTCACCTTCAAAACTCTCAAAGGAAGAGTTAATACAGAGTATGGATCG)TGTAGATCGAGAAATTGCAAAAGTAGAACAGCAGATCCTTAAACTGAAAAAGAAACAA___ATTTGGAGTCTCACTCTGTCACCGAGGCTGGAG|GGCTGATGGGGTGGACCCACAGAGTGCTGGACCTGCCCCAAACCTCAGAGCATGTCGGGCTGAATGTCCAGACACCGAGGAGCTTCGGGCAAGGTC...___TCCCAGCACCATGGATTGGAAATGGGACTTGCTGTGACCACTGAAGTGTGGAAGGGGACAGTGGGGGCAGTTCTGAGTACAG___CGTTTTTACTTCAAACCAGCAcAGCCAGG MSSSGYPPNQGAFSTEQSRYPPHSVQYTFPNTRHQQEFAVPDYRSSHLEVSQASQLLQQQQQQQLRRRPSLLSEFHPGSDRPQERRTSYEPFHPGPSPVDHDSLESKRPRLEQVSDSHFQRVSAAVLPLVHPLPEGLRASADAKKDPAFGGKHEAPSSPISGQPCGDDQNASPSKLSKEELIQSMDRVDREIAKVEQQILKLKKKQiwsltlsprle|g* 11BR031 ENSG00000139974.15 ENSG00000168952.15(27159),ENSG00000258098.2(47027) +/+ ./+ chr14:61046167 chr14:25077456 CDS/splice-site intergenic duplication 0 4 0 55 10 medium out-of-frame . . . . ENSG00000139974.15 . ENST00000354886.6 . downstream upstream . ^(GTCATCAGATCAAGTCGACTCGCTCCTCTCCTTCCAGGCCCTGGTGAAGTACGGAATGCCGGAAGGGCCGGGCTCAAAGCTCCGCCTCTGGCGCGACCGACGACTGGAGCGCAGGGCAGGGGTAGAGGCTCGTAGATGGAACTGGTAGTCAGCTGGAGAGCAGCATGGAGGCGTCCTGGGGGAGCTTCAACGCTGAGCGGGGCTGGTATGTCTCTGTCCAGCAGCCTGAAGAAGCGGAGGCCGAAGAGTTGAGTCCGTTGCTAAGCAAC___GAACTTCACAGACAGCGATCCCCAGGTGTTTCATTTGGTTTATCAGTGTTTAATTTGATGAATGCCATCATGGGAAGTGGCATCCTTGGCTTAGCTTATGTTTTGGCTAATACCGGTGTCTTTGGATTTAG___CTTCTTGCTGCTGACAGTTGCTCTCCTGGCTTCTTACTCAGTCCATCTTCTGCTTAGTATGTGTATTCAGACAG___CTGTAACATCTTATGAAGATCTTGGACTCTTTGCATTTGGATTACCTGGAAAG___TTGGTGGTGGCAGGCACCATAATAATTCAGAATATTGGAG___CTATGTCATCTTATCTTTTAATTATTAAAACAGAGCTTCCTGCTGCTATTGCAGAATTTTTGACTGGAGACTATAGTAG___ATATTGGTATCTTGATGGACAAACACTACTAATAATCATATGTGTTGGCATTGTGTTCCCTCTTGCACTTCTTCCCAAAATAG___GCTTTCTTGGCTACACAAGTAGTTTATCATTTTTCTTTATGATGTTCTTTGCTCTTGTG___GTAATAATTAAAAAATGGTCCATCCCTTGTCCTCTGACATTAAATTATGTAGAGAAAGGTTTCCAG___ATTTCAAATGTTACAGATGATTGTAAGCCAAAGCTCTTTCATTTCTCCAAAGAG___AGTGCTTATGCCTTACCAACCATGGCTTTTTCATTTCTCTGCCATACCTCAATATTGCCCATATACTGTGAACTTCAAAG___TCCTTCAAAGAAAAG)AATGCAGAATGTTACCAATACAGCAATTGCTTTAAGTTTTCTCATTTATTTTATATCTGCACTCTTTGGGTACCTCACTTTTTATG|GTGTTCTGACTTTGAAGATAAAACTCAAATCCTTCAGTCTTCCATGAAGCTGAGATTCAGGCAAGTGACTCAGGCTCCACCAATCAGAT...___ATCCAGCTGGAAGAACTTGCATAAGAGCTTAAGG MEASWGSFNAERGWYVSVQQPEEAEAEELSPLLSNELHRQRSPGVSFGLSVFNLMNAIMGSGILGLAYVLANTGVFGFSFLLLTVALLASYSVHLLLSMCIQTAVTSYEDLGLFAFGLPGKLVVAGTIIIQNIGAMSSYLLIIKTELPAAIAEFLTGDYSRYWYLDGQTLLIIICVGIVFPLALLPKIGFLGYTSSLSFFFMMFFALVVIIKKWSIPCPLTLNYVEKGFQISNVTDDCKPKLFHFSKESAYALPTMAFSFLCHTSILPIYCELQSPSKKRMQNVTNTAIALSFLIYFISALFGYLTFY|gvltlkiklksfslp* 11BR031 ENSG00000105983.22(455),ENSG00000230033.1(51058) ENSG00000135241.17 ./+ -/- chr7:156893663 chr7:108502642 intergenic CDS/splice-site inversion 3 0 0 7 71 medium . . |Patatin-like_phospholipase(100%) . . . ENSG00000135241.17 . ENST00000257694.13 downstream downstream . TATTTATGACAGCTGCATGGTTCCCCTCCCCCAGTTACTCAGTGCTTGGCACTCGGCACCCCTTACTCAGCACTCAGTACCGCACTCGGCCTCAGGGGACCTGGGCAGAGGGAAGCAGGGAGTCTCCCGCGGAAACTCTTGCTCTGCCAAA|GAAAGAATTATTCCATATTTATTACGACTGAGACAAATTAAGGATGAAACTCTTCAGGCTGCAGTTAGAGAAATTTTGGCCCTAATTGGCTATGTGGATCCAGTGAAAGGGAG(AGGAATCCGAATTCTCTCAATTGATGGTGGAGGAACAAG___GGGCGTGGTTGCTCTCCAGACCCTACGAAAATTAGTTGAACTTACTCAGAAGCCAGTTCATCAGCTCTTTGATTACATTTGTGGTGTAAGCACAG___GTGCCATATTAGCTTTCATGTTGGGGTTGTTTCATATGCCCTTGGATGAATGTGAGGAACTTTATCGAAAATTAGGATCAGATGTATTTTCACAAAATGTCATTGTTGGAACAGTAAAAATGAGTTGGAGCCATGCATTTTATGACAGTCAAACATGGGAAAACATTCTTAA___GGATAGGATGGGATCTGCACTGATGATTGAAACAGCAAGAAACCCCACATGTCCTAAG___GTAGCTGCTGTAAGTACCATAGTAAATAGAGGGATAACACCCAAAGCTTTTGTGTTCAGAAACTATGGTCATTTTCCTGGAATCAACTCTCATTATTTGGGAGGCTGTCAGTATAAAATGTGGCAGGCCATTAGAGCCTCATCTGCTGCTCCAGGCTACTTTGCAGAATATGCATTGGGAAATGATCTTCATCAA___GATGGAGGTTTGCTTCTGAATAACCCTTCGGCATTAGCTATGCATGAGTGTAAATGTCTTTGGCCAGATGTGCCGTTAGAGTGCATAGTATCCCTGGGCACTGGACGTTATGAGAGTGATGTGAGAAACACGGTAACATACACAAGCTTGAAAACTAAACTTTCTAATGTTATCAACAGTGCTACAGATACAGAAG___AAGTCCATATAATGCTTGATGGCCTGTTACCTCCTGACACCTATTTTAGATTCAATCCTGTAATGTGTGAAAACATACCTCTAGATGAAAGTCGAAATGAAAAGCTGGATCAGCTGCAGTTGGAAGGGTTGAAATACATAGAAAGAAATGAACAAAAAATGAAAAAAGTTGCAAAAATATTAAGTCAAGAAAAAACAACTCTGCAGAAAATTAATGATTGGATAAAATTAAAAACTGATATGTATGAAGGACTTCCATTCTTTTCAAAATTGTGATGAGTATATGCTTATGTTCTCATAAATGAAGGTCTGTTTAGAAGATCAACCACATTCAATAAGGAATTGTGGGGTTCGACATGAGTTAACTTTGAAATACGTATGAATTCTGGAGAATCCTGAAAAAGACGGTGCTTCAACCAGCTTGCATAGCACAGAGAATATTCTTGGTTACAGAATTCATATGGGAACTAGGCTTTTAAGATGTTAATAATTAGCTAAGCTTTAGTAACCCTTACTGTGCTAGTAGATTTTAGTAGATATTGGTGTTATATTGTTTGATGTTTGAAAATATATTAATATATGTGCCGAACAAGAAACCGAAAGCTATATTGTACTGTGTATTTTTACTTTAGTCCTCATAATCATGTTGAATTTATGTGATCATTGATTTTATTTCATATGGAAAAGCTAATTTCTTCTTAAATTTACATTACCTAATATTCTCACTAGCTATGTTCTCCAATCCACACTGCCTTTTATTGTAATATCATCTAAATAGATGCAGAAAAATGGAATTTTCTCTATTAAAGTATTTTACATTTGACATAAAAAAGAACCAGATACAGTTTTCTATTCAGATATGTTTATTTTAACATTGTTTGGTTAAAAAAGGTGAAGTTCCAGTCAACCACTTTTTACCCCTGAAATTTCAAGATAATGCTATATTAACTTTTCCAGATCTAACACTAGCTTATTCTTCCCTGTTATAAAATGGTTTGAACTTACTGAGGAGATATTCCTATCATTAACAAAAATAAACTATTTAAATAATCTGTTGTTAAAAGGCTAATGTCATTTTAAAATTAATTTTTGTTCATAATGTAGCTCCCCTTTAGCCTTTGAATACACCTGGCAGCAGTATGCTTAAAAATAAGAAGTTAGTTGCCTGGCGCAGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGACGTCAGGAGTCCAAGACCAGCCTGGCCAACACGGTGAAACCTCGTCTCTAATAAAAATACAAACATTAGCCCGGCATGGTGGTGCACACCTATAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATGGCTTGAACCTGAGAGACGGAGGTTGCAGTGAGCCAAATAGCGCCAGTGCACTCCAGCCTAGGCGACACAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGAAGAAGTTAGGCTTGTTTTACCTTATTAACTCCTTTGAACTGTCTGGATTTCATGGAAGTTGGTAAGATGCACTTACATGGAACATTGTTCATGCCAAACAAACTCATCTTTATTGTATCTATTTGTCACATAAATCCTTACATGGAATGTTTTGATTTCTTAAGAAAAATGAAACAAAGGTTAGCGCCCCTTGTTTTAGACATACAAACTAAAGCTAGACCCTGTTGCCCAGATAGTCATATTGCTTCTTTGCAATATCAATTCACAGAGGCTGTGAGATGTGGTTCAAAGAGTGGAGTCGAGAGTCTGGATGCTAATCCTGCCTTTGCTGCAAGAACCCTTCTGTTTGTTACCTTGAGGAAGGCAAATGTCTGTAGGCTTTGCATATCTCATTTGTAAAATGAGGAAAGGTAGCTGTAAAATTTTCTAACATCCGAATTATATAAACTTTAGACATAGTATAAAATAGGAAACTACCAATGATTTCTAAAGATAATATAGTTCTTTCAGACCACAAATAATACATAATAACATGCAACTAAGAACAACTTGTAAATGCAAGAAAAAAACAAATAATTGGAAATCAGAATATTTCTGGGAATTCTTCGTAATAAAGCAAATTTCAAGCACAATAAAGTAATATTTATGCATATTTACATATTTGCACCTCATCATAAGGTCACTCTAGTCCTAAACTGATGTAGTTCATCTGTTTTACAGCTGAAGTTAAGTATGTCCCTTATTTGTGCTTGGCTTATTTCTTTCTTAAATAATACATTACACAAGTGAACTCTG)$ . 11BR031 ENSG00000198742.9 ENSG00000131558.15 -/- +/- chr7:99143726 chr7:133253659 CDS/splice-site intron duplication/5'-5' 3 0 0 13 32 medium out-of-frame . C2_domain(100%)| . . ENSG00000198742.9 ENSG00000131558.15 ENST00000361125.1 . upstream downstream . ^(GGCAGCGGCGGAAGCGGCGAGGGCGGCGGGCGTCCGGCTCTGAGGTGGTGGAGGCGGCGGAGGCGGCGGCGGAGGCGGCGGCGGCTCGGGACTGGGCTCGGCTGGAAGCAGCGAGGGTCAGAGCGCCGCAGCAAGCGCCGATCTCCCGGCTCGACCATCCGCCTGCCGCCCGGACGCCTGGGCCGCGGAGTTTGTGTCCCGGCTCGGACCCCGGCGCCCAGCCCGGAGCCGTAACCTTGAGGCGGCGGCGGCGG)GGCCGGGCCGGGCCGGGCTGGGGGGCGGTGGCGCTGGATCCGCGGCTGCCCGATCGTTGGCGGGAGATGTCGAACCCCGGGACACGCAGGAACGGCTCCAGCATCAAGATCCGTCTGACAG|GTGGTTGAAAGTATCCAGAGTGTGAAAACACAAATCTGCAACTCGTGACAGGAATCTCCGGACTCCAAG MSNPGTRRNGSSIKIRLT|gg* 11BR031 ENSG00000100836.10 ENSG00000139946.10 +/+ +/+ chr14:23324789 chr14:56133523 3'UTR intron deletion 2 1 0 79 3 medium stop-codon . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000100836.10 ENSG00000139946.10 ENST00000397276.6 . downstream upstream . ^(AGTCTGAGCGGCGATGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCGGGGGCTGCGGGCGGTCGGGGCTCCGGGCCGGGGCGGCGGCGCCATCTTGTGCCCGGGGCCGGTGGGGAGGCCGGGGAGGGGGCCCCGGGGGGCGCAGGGGACTACGGGAACGGCCTGGAGTCTGAGGAACTGGAGCCTGAGGAGCTGCTGCTGGAGCCCGAGCCGGAGCCCGAGCCCGAAGAGGAGCCGCCCCGGCCCCGCGCCCCCCCGGGAGCTCCGGGCCCTGGGCCTGGTTCGGGAGCCCCCGGCAGCCAAGAGGAGGAGGAGGAGCCGGGACTGGTCGAGGGTGACCCGGGGGACGGCGCCATTGAGGACCCG___GAGCTGGAAGCTATCAAAGCTCGAGTCAGGGAGATGGAGGAAGAAGCTGAGAAGCTAAAGGAGCTACAGAACGAGGTAGAGAAGCAGATGAATATGAGTCCACCTCCAGGCAATG___CTGGCCCGGTGATCATGTCCATTGAGGAGAAGATGGAGGCTGATGCCCGTTCCATCTATGTTGGCAAT___GTGGACTATGGTGCAACAGCAGAAGAGCTGGAAGCTCACTTTCATGGCTGTGGTTCAGTCAACCGTGTTACCATACTGTGTGACAAATTTAGTGGCCATCCCAAAGG___GTTTGCGTATATAGAGTTCTCAGACAAAGAGTCAGTGAGGACTTCCTTGGCCTTAGATGAGTCCCTATTTAGAGGAAGGCAAATCAAG___GTGATCCCAAAACGAACCAACAGACCAGGCATCAGCACAACAGACCGGGGTTTTCCACGAGCCCGCTACCGCGCCCGGACCACCAACTACAACAGCTCCCGCTCTCGATTCTACAGTGGTTTTAACAGCAGGCCCCGGGGTCGCGTCTACAGGTCAGGATAGATGGGCTGCTCCTCTTTCCCCCGCCTCCCGTGAGCCCCGTATGCTTCCTCCTCTCTGGTCTGAGGAACCTCCCTCCCCCCACCCCTCCCCGTGGTCTTCAGGAACTTTGTCTCCTGCCTGTGCAGGTTGAGGAAGGTAGTTGCAGGCCAGGCCAGAAGGCCAGCCTCATCATCTTTTCTGCAGTAGAAATTGGTGATAAGGGCTGCATCCCTCCCTTGGTTCAAAGAGGCTTCCACCCCCAGCCTTTTTTTTCTTGGGAGTTGGTGGCATTTGAAGGTGTTTGCGGACAAAACTGGGAGGAACAGGGCCTCCAGGCAGTGAAA)GCACTGCTTGGACATTTGTTACTTTTTTCGGAGTTAGGGAGGGATTGAAGACTGAACCTCCCTTGGAAGAATACCAGAGGCTAGCTAGTTGATCCTCCCCAACAGCCTTGTGGGAGGATTTTGAGATACTTATTCTTTATTTGAGCCAGTCTTGCAAGGTTAACTTC|ATTTTACACATGTCCTGCCCAGGCAAGCTCGGGATCCAGTTTTCTGCCCTTGGGGCCTTTCCC . 11BR031 ENSG00000064393.16 ENSG00000260009.1(26824),ENSG00000263257.3(10578) -/- ./+ chr7:139777605 chr16:14397090 CDS/splice-site intergenic translocation 0 2 0 10 13 medium out-of-frame . . . . ENSG00000064393.16 . ENST00000406875.8 . upstream upstream . ^(ATGCTGAGCTGAGCCCCGCCGGCCCTGGCCGCGCGCTGCCCCCGGCTCCCGCCCCTCCGCGGATCCGCTCGGGGGCCGCGGCCGCTCGGCGCCTCGGCCTCGGCCGCTCCGCCCGCCCGGCCGCCCCGAGCCCCGAGCCCCGAGCCCCCCGCGCCGGGCCCGGGCGGCAGCGGCGGCGGCGGCGGCGGCGGCGCGCCCGGCCCCCTCCCCCGGCGCCGGCCACGGGAGGCGGTGATGCGGGCGCGGGCGGCCTCGGCTGCGCCGAGAGCGGAGACACAGGCTCAAGATGGCAGATTCCGACTGAGGCTGGGGGGGCCGAGCTCGCGCGCCGCTTTCCCGTC)CCCGTTGCCATGAACCGCGGACACCCCGGCCCCGATGGCCCCCGTGTACGAAG|GAGCAATGGCTCCAGATCCGCTAATTCAGTGTTTGCAGAGACTTTACCACAAATAAGAATCCACTATGTGTAATGCGTGTCATCTACCATTCCTATTACGAAG___GTCTTTGTGCGCAAGGTCTGGG MAPVYE|gamapdpliqclqrlyhk* 11BR031 ENSG00000262801.6 ENSG00000230746.2(232816),ENSG00000280144.1(136004) +/+ ./- chr16:13350421 chr7:145914058 exon/splice-site intergenic translocation 1 1 0 6 1 medium . . . . . ENSG00000262801.6 . ENST00000653029.1 . downstream downstream . ^(ATACTGTTTTCATGGAAGTGAATAAGTCTCACAAGATCTGATGGTTTTATAAGAGGAAACCCCTTTTGCTTGGCTCCAATTCTTCTCCATGCTTCCCCATGTAAGATGTGCCTTTCACCTTCTGCCATGATTATGAGGCCTCCCGAGCCACGTGGAACT___AGCTGGAACACCCTTCTTCTCCTGCCTTTGGACATCAGAACTTCAGATTCTCTGGCCTTCAGACTTCAAGACTTGCACTAGTGGCCCCCTGGGTTCTCAAGGTTTTGGCCGCCTCGGTTGAGA)GTTACACCATCGGCTTCTTTGGTTCTGAGGCCGTTGGAGTTGGACTGAGCCATGCTACCAGCTTCCCTGGGTCTCCAGCCTGCAGATTGCCTACTGTGAGATTTAGCCTCCATAATCAC|GGCAGTGACGATGGAAGAAAAAGGCAAGACTTCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAG . 11BR032 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 6 1 28 25 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(2),mismappers(2),mismatches(3) CTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCgTGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAG(GACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR032 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 4 7 0 40 19 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAG)GGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR032 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 4 6 0 26 11 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream mismatches(2) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCA)GCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprl 11BR032 ENSG00000169715.15 ENSG00000285130.2 +/+ +/- chr16:56627048 chr9:69163325 3'UTR intron translocation/5'-5' 1 2 0 81 6 medium stop-codon . Metallothionein(100%)| . . ENSG00000169715.15 ENSG00000285130.2 ENST00000306061.10 . downstream downstream mismappers(1) ^(CGGAACACGCTGGGAGGAGGGTGGAAGGCAACCTCGGGGAAACTGGGAAAGGCGGCCTGGACTTCGGGAACACCGCGTACCTGCGGGGGCACAGCCCCACCCGAGCGAACGGGCTCCAAAGGGGAGGTCCCGCGGTGCCCACCGCGCAGAGCTCAGGGGGTGGTGCGCCCGGCCCTTCTGCGGCGCACAGCCCAGCCCAGGAACGCGGGCGGTGCGGACTCAGCGGGCCGGGTGCAGGCGCGGAGCTGGGCCTCTGCGCCCGGCCCGACCTCCGTCTATAAATAGAGCAGCCAGTTGCAGGGCTCCATTCTGCTTTCCAACTGCCTGACTGCTTGTTCGTCTCACTGGTGTGAGCTCCAGCATCCCCTTTGCTCGAAATGGACCCCAACTGCTCTTGCGCCACTG___GTGGCTCCTGCACGTGCGCCGGCTCCTGCAAGTGCAAAGAGTGCAAATGCACCTCCTGCAAGAAGA___GCTGCTGTTCCTGCTGCCCCGTGGGCTGTGCCAAGTGTGCCCAGGGCTGCGTCTGCAAAGGGGCAT)CGGAGAAGTGCAGCTGCTGTGCCTGATGTGGGAACAGCTCTTCTCCCAGATGTAAATAGAACAACCTGCACAACCTGGATTTTTTTAAAAATACAACACTGAG|GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAcGGTGAAACCCCG . 11BR032 ENSG00000169715.15 ENSG00000119139.20 +/+ +/- chr16:56627048 chr9:69163325 3'UTR intron translocation/5'-5' 1 2 0 81 6 medium stop-codon . Metallothionein(100%)| . . ENSG00000169715.15 ENSG00000119139.20 ENST00000306061.10 . downstream downstream mismappers(1) ^(CGGAACACGCTGGGAGGAGGGTGGAAGGCAACCTCGGGGAAACTGGGAAAGGCGGCCTGGACTTCGGGAACACCGCGTACCTGCGGGGGCACAGCCCCACCCGAGCGAACGGGCTCCAAAGGGGAGGTCCCGCGGTGCCCACCGCGCAGAGCTCAGGGGGTGGTGCGCCCGGCCCTTCTGCGGCGCACAGCCCAGCCCAGGAACGCGGGCGGTGCGGACTCAGCGGGCCGGGTGCAGGCGCGGAGCTGGGCCTCTGCGCCCGGCCCGACCTCCGTCTATAAATAGAGCAGCCAGTTGCAGGGCTCCATTCTGCTTTCCAACTGCCTGACTGCTTGTTCGTCTCACTGGTGTGAGCTCCAGCATCCCCTTTGCTCGAAATGGACCCCAACTGCTCTTGCGCCACTG___GTGGCTCCTGCACGTGCGCCGGCTCCTGCAAGTGCAAAGAGTGCAAATGCACCTCCTGCAAGAAGA___GCTGCTGTTCCTGCTGCCCCGTGGGCTGTGCCAAGTGTGCCCAGGGCTGCGTCTGCAAAGGGGCAT)CGGAGAAGTGCAGCTGCTGTGCCTGATGTGGGAACAGCTCTTCTCCCAGATGTAAATAGAACAACCTGCACAACCTGGATTTTTTTAAAAATACAACACTGAG|GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAcGGTGAAACCCCG . 11BR032 ENSG00000170545.17 ENSG00000011021.23 -/- +/+ chr12:51269245 chr1:11833515 CDS/splice-site CDS/splice-site translocation 0 2 0 37 14 medium out-of-frame . |CBS_domain(100%),Voltage_gated_chloride_channel(100%) . . ENSG00000170545.17 ENSG00000011021.23 ENST00000603798.6 ENST00000312413.10 upstream upstream . ^(CTCTGCGCCAACCCCGCGCGCCACCCGCGGCTTCCTCCGCTCGGGGTCCTCGTTCGGCCTCTGCTGGCCTCCGCGACTCCGCGGTGCCCGCCCCCGTTGAGTTCAAAAGGACGCGCGGAGCGGCGCCGGCCCTTCACCAGCAGCCCGTCCGAC)TGGAAAG___ATCTGCCTCTTCTCCAAGAAACTCAACCACTAGTGACAATGACCAGCCTCCTGACTACTCCTTCTCCAAGAG|GTCACAGAAGATGTGAATTCAAGTATCAAGACATTTTTTTGTCCCAATGATACCTACAATGACATGGCCACACTCTTCTTCAACCCGCAGGAGTCTGCCATCCTCCAGCTCTTCCACCAGGATG___GTACTTTCAGCCCCGTCACTCTGGCCTTGTT(CTTCGTTCTCTATTTCTTGCTTGCATGTTGGACTTACGGCATTTCTGTTCCAAGTGGCCTTTTTGTGCCTTCTCTGCTGTGTGGAGCTGCTTTTGGACGTTTAGTTGCCAATGTCCTAAAAAG___CTACATTGGATTGGGCCACATCTATTCGGGGACCTTTGCCCTGATTGGTGCAGCGGCTTTCTTGGGCGGGGTGGTCCGCATGACCATCAGCCTCACGGTCATCCTGATCGAGTCCACCAATGAGATCACCTACGGGCTCCCCATCATGGTCACACTGATG___GTGGCCAAATGGACAGGGGACTTTTTCAATAAGGGCATTTATGATATCCACGTGGGCCTGCGAGGCGTGCCGCTTCTGGAATGGGAGACAGAGGTGGAAATGGACAA___GCTGAGAGCCAGCGACATCATGGAGCCCAACCTGACCTACGTCTACCCGCACACCCGCATCCAGTCTCTGGTGAGCATCCTGCGCACCACGGTCCACCATGCCTTCCCGGTGGTCACAGAGAACCGCGGTAACGAGAAGGAGTTCATGAAGGGCAACCAGCTCATCAGCAACAACATCAAGTTCAAG___AAATCCAGCATCCTCACCCGGGCTGGCGAGCAGCGCAAACGGAGCCAGTCCATGAAGTCCTACCCATCCAGCGAGCTACGGAACATGTGTGATGAGCACATCGCCTCTGAGGAGCCAGCCGAGAAGGAGGACCTCCTGCAGCAGATGCTGGAAAGGAG___ATACACTCCCTACCCCAACCTATACCCTGACCAGTCCCCAAGTGAAGACTGGACCATGGAGGAGCGGTTCCGCCCTCTGACCTTCCACGGCCTGATCCTTCGGTCGCAGCTTGTCACCCTGCTTGTCCGAGGAGTTTGTTACTCTGAAAGCCAGTCG___AGCGCCAGCCAGCCGCGCCTCTCCTATGCCGAGATGGCCGAGGACTACCCGCGGTACCCCGACATCCACGACCTGGACCTGACGCTGCTCAACCCGCGCATGATCGTG___GATGTCACCCCATACATGAACCCTTCGCCTTTCACCGTCTCGCCCAACACCCACGTCTCCCAAGTCTTCAACCTGTTCAGAACGATGGGCCTGCGCCACCTGCCCGTGGTGAACGCTGTGGGAGAG___ATCGTGGGGATCATCACACGGCACAACCTCACCTATGAATTTCTGCAGGCCCGGCTGAGGCAGCACTACCAGACCATCTGACAGCCCAGCCCACCCTCTCCTGGTGCTGCCTGGGGAGGCAAATCATGCTCACTCCGGCGGGCACAGCTGGCTGGGGCTGTTCCGGGGCATGGAAGATTCCCAGTCACCCACTCACTCAGAAAGCCGGGAGTCATCGGACACCTTGCTGGTCAGAGGTCCTGGGGGTGGTTTTGAACCATCAGAGCTTGGACTTTTCTGACTTCCCCAGCAAGGATCTTCCCACTTCCTGCTCCCTGTGTTCCCACCCTCCAGTGTTGGCACAGGCCCACCCCTGGCTCCACCAGAGCCAGAAGCAGAGGTAGAATCAGGCGGGCCCCGGGCTGCACTCCGAGCAGTGTTCCTGGCCATCTTTGCTACTTTCCTAGAGAACCCGGCTGTTGCCTTAAATGTGTGAGAGGGACTTGGCCAAGGCAAAAGCTGGGGAGATGCCAGTGACAACATACAGTTCATGACTAGGTTTAGGAATTGGGCACTGAGAAAATTCTCAATATTTCAGAGAGTCCTTCCCTTATTTGGGACTCTTAACACGGTATCCTCGCTAGTTGGTTTTAAGGGAAACACTCTGCTCCTGGGTGTGAGCAGAGGCTCTGGTCTTGCCCTGTGGTTTGACTCTCCTTAGAACCACCGCCCACCAGAAACATAAAGGATTAAAATCACACTAATAACCCCTGGATGGTCAATCTGATAATAGGATCAGATTTACGTCTACCCTAATTCTTAACATTGCAGCTTTCTCTCCATCTGCAGATTATTCCCAGTCTCCCAGTAACACGTTTCTACCCAGATCCTTTTTCATTTCCTTAAGTTTTGATCTCCGTCTTCCTGATGAAGCAGGCAGAGCTCAGAGGATCTTGGCATCACCCACCAAAGTTAGCTGAAAGCAGGGCACTCCTGGATAAAGCAGCTTCACTCAACTCTGGGGAATGCTACCATTTTTTTTCCAAAGTAGAAAGGAAGCACTTCTGAGCCAGTGACCACTGAAAGGTATGTGCTATGATAAAGCAGATGGCCTATTTGAGGAAGAGGGTGTCTGCCCTTCACAAACACCTCTCTCTCCCCTGCACTAGCTGTCCCAAGCTTACATACAGAGGCCCTTCAGGAGGGCCTCCTGTGCCGCAGGGAGGGTGCGTGGGGAAGATGCTTCCTGCCAGCACGTGCCTGAAGGTTTCACATGAAGCATGGGAAGCGCACCCTGTCGTTCAGTGACGTCATTCTTCTCCAGGCTGGCCCGCCCCCTCTGACTAGGCACCCAAAGTGAGCATCTGGGCATTGGGCATTCATGCTTATCTTCCCCCACCTTCTACATGGTATTAGTCCCAGCAGGCATCCCTGGGGCAGACGTGCTTTGGCTCAAGATGGCCTTCATTTACGTTTAGTTTTTTTTAAAACCGTGGAGGTTGCCCACGGGCCTCGGCACCTGGCCCTGGCAGCACAGCTCTCAGGCCCAGCCCTGGGCGACCTCCTTGGCCAAGTCTGCCTTTCACCCTGGGGTGAGCATCAGTCCTGGCTCTGCTGGTCCAGATCTTGCGCTCAGCACACTCTAGGGAATAATTCCACTCCAGAGATGGGGCTGCTTCAAGGTCTTTTCTAGCTGATTGTGGCCCCTCCATTTTCCCCATTTTCTTATCTCCCTGACCAAAATTGCTTTGACTTCTAAATGTTTCTGCTTCCCAGAATGCACCTGACTTATGAAATGGGGATAATACTCCCAGGAAATAGCGCAGGACATCACAAGGACCAAAAAGGCAATTCTTATTTAAATGTTACTATTTGGCCAGCTGCTGCTGTGTTTTATGGCAGTGTTCAGAGCTTGATCACGTTATTTCTTCCTTTTATTAAGAAGGAAGCCAATTGTCCAAGTCAGGAGAATGGTGTGATCACCTGTCACAGACACTTTGTCCCCTCTCCCCGCCCCTTCCTGGAGCTGGCAGAGCTAACGCCCTGCAGGAGGACCCCGGCCTCTCGAGGGCTGGATCAGCAGCCGCCTGCCCTGAGGCTGCCCCGGTGAATGTTATTGGAATTCATCCCTCGTGCACATCCTGTTGTGTTTAAGTCACCAGATATTTTGTTCCCATCAGTTTAGCCCAGAGATAGACAGTAGAATGCAAATACCTCCCTCCCCTAAACTGACTGGACGGCTGCCAAGGAGGCCCCAAACCCAGGCCCCATGCAAAGGCACGTGGTTTCCTTTTCTCCTCTCTCTGCATCTGCGCTTTCCAGATAAGCCCAAAGACAGCAACTTCTCCACTCATGACAAATCAACTGTGACCCTCGCTCCTTCCATTTCTGTCCATTAGAAACCAGCCTTTTCAGCATCTCACCCATTAGCAGCCCCATCACCCAGTGATCAGTCGCCTCAGTAAAGCAGATCTGTGGATGGGGAGCCTACGGGTGGTAAGAAGTGGTGTTTTGTGTTTCATCTCCAGCTTGGTGTTCCATGGCCCCTAGGCGAGGTGATCAGGGAGTGGGGCCAATGGGCCCCCGGCCCTGGCTTTGGGACCTTGTGCTGAGGGATGATTTGCTCCTGACCTTGATTAACTTAACAGTTCCCAGCTGGAAGGGACACTTTCAGGACCCAGTCCACTGTATGGCATTTGTGATGCAGAATTATGCACTGACATGACCCTGGGTGACAGGAAAGCCTTTCGAGAGGCCCAAGGTGGCCTCGCCAGCCCTGCAGTATTGATGTGCAGTATTGCACCACAGCTCTGCGGACCTTGGCCATTGCCGCAGTCGCAGCTTCCTTTTTTCTGTTTGCACTGTTTGTTTGTATGATGTTAGCTAATTCCACTGTGTATATAAATTGTATTTTTTTTAATTTGTAAAATGCTATTTTTATTTGAACCTTTGGAACTTGGGAGTTCTCATTGTAACCCTAACATGTGAGAATAAAATGTCTTCTGTCTCCTCTGTCTCCTTT)$ MTSLLTTPSPR|ghrrcefkyqdiflsq* 11BR032 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 2 0 0 270 13 medium . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000561058.5 upstream downstream mismappers(1) AGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCA(GCCTGTCACTTCAAAGTCACCAGTGTCAAG___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 11BR036 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 35 9 0 345 115 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(3),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCA)GGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR036 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 18 11 1 38 34 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismappers(1) ATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATG(GGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR036 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 9 12 1 53 40 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGA)GGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR036 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 17 0 21 46 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(1) GCGGCGGCaGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGAT(CCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR036 ENSG00000147256.12 ENSG00000233093.6 +/+ +/+ chrX:131081918 chrX:136642103 CDS/splice-site exon/splice-site deletion 2 8 0 6 26 high out-of-frame . . . . ENSG00000147256.12 ENSG00000233093.6 ENST00000276211.10 ENST00000454385.6 downstream upstream duplicates(1) ^(GCAAAGGTTAACTGCGAGCTGCCGGGCACTCAGCGCGGGTCATGGCGTGGATACTGGACTGCCTTTTCGCCTCGGCCTTTGAGCCCCGCCCCCGCCGTG___CAAAAACAACCAGAGGCTGCTCTGCTTGAGGGTGAAGCCGCCTCCCAGTTTTCCCTCCCCCTCTACCCCCACCCCCATAGTTCTCTCCACCAGGTCCAGTGACAATTGGATGATGCAGCCTTGATAATCATCCGATTCCAGAATGGGTGGCTGCATTCCTTTTCTGAAGGCAGCAAGGGCACTGTGCCCCAGAATCATGCCCCCTTTGCTGTTGTTGTCCGCCTTCATTTTTTTAGTGAGTGTCTTGGGAGGAGCCCCA)GGACACAACCCCGACCGCAGGACGAAGATGGTATCGATACACAGCCTCTCTGAGCTGGAGCGTCTGAAGCTGCAAGAGACTGCTTACCACGAACTCGTGGCCAGACATTTCCTCTCCGAATTCAAACCTGACAGAG|GGTCCAGCTCAGCACCTGGCTCACATTAGGCACTCAGTGAATGTTGATGTGAACAAATGAACTGATTCAAAGAAGTGTCTCCTGAAGTTGCTTCTTTCCAATCCAGCTAACAAATGCAGTATTCTGAATGGAGGTACCAGAGATCACGTCATCTTCAGCTTTCTGCTGCAGATCCACATGAAGAATCACACATATCCTTAATGTTAGAT(AGGACTTTGCATTGAACACTTTAAAATGTGAAGTCTGGCTTTGAAGAGGGTGTATAACACACATAATTTACTGTGCATCAGTCTCACTAATGGAAAATAAACAATAACCCATAAA)$ MGGCIPFLKAARALCPRIMPPLLLLSAFIFLVSVLGGAPGHNPDRRTKMVSIHSLSELERLKLQETAYHELVARHFLSEFKPDR|gsssapgsh* 11BR036 ENSG00000119414.11 ENSG00000287394.1 -/- -/- chr9:125160841 chrX:152641295 CDS/splice-site intron translocation 3 6 0 244 11 high out-of-frame . Calcineurin-like_phosphoesterase(100%)| . . ENSG00000119414.11 ENSG00000287394.1 ENST00000373547.8 ENST00000671457.1 upstream downstream . ^(GGACGTGACGCAGGGAAAGTTCCGGCTTCGGCCTCCGCCGCTGCCGCCGCCGCTGCTACAGCCGCCGCCGCCGCTGTTGCCGCGGCTTGTTATTCTTAAAATGGCGCCGCTAGACCTGGACAAGTATGTGGAAATAGCGCGGCTGTGCAAGTACCTGC)CAGAGAACGACCTGAAG___CGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAG___TTTTATGACCTTTGTGAACTGTTCAGAACTGGAGGTCAGGTTCCTGACACAAACTACATATTTATG|GTTTCCTAGGTGTCCCCTGGGCTAGAGAATGCTGCGTTTGCTACGCCGGGTCAGG___ACTTGGCATATGGCATAAGACACACAGAGAGAGCCTTGCTGGTGTAGCTGAGATTTACGACCCTCATCCAACCAAACCATTTCAGATTCTTGGGGCTCAGAGCTCTCA(TCGGAAAGACATCTATTCTGGGAGCAG___GTACCCTTGTGACTATGAAGATTGACAAAAAGTTGACGGCAACGATGAATTCTCTTCCAGAACTTACATCCCAGAAGGCCCTCCCCTACTTCGGGTCTCCCTAGAG___AGTGGAGAGACCTGCTGCCCTTGAAGAAGCAAACAGCCATGTTGTGAGCTGCCTAAGCCTCTAGGTCTTGAGGGAAGCTTACAGTTAAGAGCCAGCAAAAGCCAGGGCCCTCAGTCATGCCACACAAGGAAACGAATCCTGCCAGCAACTATGGGGGCTTGGAAGAGGATATTAAGCTTCAGTTGAGAATGCAGCCTGACTGACACCATCATTGCAGCCTTGTGAGACCCCAATCAGAGGACCCAGCTGAGCTGTACCCAGACTCCTAACCCACGGAAACTGAGAAAATAAATGTGTGCTATTT)$ MAPLDLDKYVEIARLCKYLPENDLKRLCDYVCDLLLEESNVQPVSTPVTVCGDIHGQFYDLCELFRTGGQVPDTNYIFM|vs* 11BR036 ENSG00000119414.11 ENSG00000287394.1 -/- -/- chr9:125160841 chrX:152639794 CDS/splice-site exon/splice-site translocation 3 1 0 244 16 high out-of-frame . Calcineurin-like_phosphoesterase(100%)| . . ENSG00000119414.11 ENSG00000287394.1 ENST00000373547.8 ENST00000671457.1 upstream downstream . ^(GGACGTGACGCAGGGAAAGTTCCGGCTTCGGCCTCCGCCGCTGCCGCCGCCGCTGCTACAGCCGCCGCCGCCGCTGTTGCCGCGGCTTGTTATTCTTAAAATGGCGCCGCTAGACCTGGACAAGTATGTGGAAATAGCGCGGCTGTGCAA)GTACCTGCCAGAGAACGACCTGAAG___CGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAG___TTTTATGACCTTTGTGAACTGTTCAGAACTGGAGGTCAGGTTCCTGACACAAACTACATATTTATG|ACTTGGCATATGGCATAAGACACACAGAGAGAGCCTTGCTGGTGTAGCTGAGATTTACGACCCTCATCCAACCAAACCATTTCAGATTCTTGGGGCTCAGAGCTCTCATCGGAAAGACATCTATTCTGGGAGCAG___GTACCCTTGTGACTATGAAGATTGACAAAAAGTTGAC(GGCAACGATGAATTCTCTTCCAGAACTTACATCCCAGAAGGCCCTCCCCTACTTCGGGTCTCCCTAGAG___AGTGGAGAGACCTGCTGCCCTTGAAGAAGCAAACAGCCATGTTGTGAGCTGCCTAAGCCTCTAGGTCTTGAGGGAAGCTTACAGTTAAGAGCCAGCAAAAGCCAGGGCCCTCAGTCATGCCACACAAGGAAACGAATCCTGCCAGCAACTATGGGGGCTTGGAAGAGGATATTAAGCTTCAGTTGAGAATGCAGCCTGACTGACACCATCATTGCAGCCTTGTGAGACCCCAATCAGAGGACCCAGCTGAGCTGTACCCAGACTCCTAACCCACGGAAACTGAGAAAATAAATGTGTGCTATTT)$ MAPLDLDKYVEIARLCKYLPENDLKRLCDYVCDLLLEESNVQPVSTPVTVCGDIHGQFYDLCELFRTGGQVPDTNYIFM|twhma* 11BR036 ENSG00000108582.12 ENSG00000108578.15 +/+ -/+ chr17:30385236 chr17:30274148 CDS/splice-site CDS duplication/5'-5' 2 6 1 78 58 high out-of-frame . Zinc_carboxypeptidase(100%)| . . ENSG00000108582.12 ENSG00000108578.15 ENST00000225719.9 . downstream upstream . ^(GCCCGGAGCGCTGAGCCGCGGGAGCGGAGCCGGGGTTAGCGGCGCTGCTGGAAGATGGCGAGCGGCCGGGACGAGCGGCCGCCTTGGCGGCTAGGGCGGCTCCTGTTGCTCATGTGCCTGCTGCTGCTGGGGAGCTCGGCCCGGGCGGCTCACATCAAGAAGGCGGAGGCGACTACCACAACTACGAGCGCGGGCGCCGAGGCGGCCGAGGGCCAGTTCGACCGCTACTACCACGAAGAGGAGTTGGAGTCGGCGCTGAGGGAGGCGGCGGCCGCGGGCCTCCCCGGCCTGGCCCGCCTCTTTAGCATCGGCCGCTCGGTGGAAGGCCGGCCGCTGTGGGTGCTTCGCCTCACCGCCGGCCTGGGGTCGCTAATCCCTGAGGGCGACGCGGGGCCTGACGCTGCCGGGCCCGACGCTGCGGGGCCGCTGCTGCCCGGCCGGCCCCAGGTGAAGCTGGTGGGCAACATGCATGGCGACGAGACCGTGTCGCGCCAGGTGTTGATCTACTTGGCCCGCGAGCTGGCGGCCGGCTACCGCCGCGGGGACCCGCGCCTGGTCCGCCTGCTCAACACCACCGACGTGTACCTGCTGCCCAGCCTCAACCCCGATGGCTTCGAGCGTGCCCGCGAGGGCGACTGTGGCTTCGGCGACGGCGGCCCGTCCGGGGCCAGCGGCCGCGACAATAGTCGCGGCCGCGACCTCAACCGAAGCTTTCCCGACCAGTTTAGCACCGGCGAACCCCCCGCCCTGGACGAGGTGCCCGAGGTGCGCGCCCTCATCGAGTGGATCCGCAGGAACAA___GTTTGTGCTTTCTGGAA)ATCTGCATGGTGGCTCAGTGGTAGCAAGCTATCCTTTTGATGATTCTCCAGAACATAAGGCCACTGGAATCTATAGCAAAACCTCAGATGATGAAGTATTTAAATACTTGGCAAAAGCTTATGCTTCAAACCACCCCATAATGAAAACTGGTGAGCCTCATTGTCCAGGAGATGAAGACGAGACTTTCAAAGATGGAATCACAAACGGCGCACATTGGTATGATGTGGAAG|GTGAATGTCTCTGGTGGATTACCCAAACAGATGCACACCACTCGGAATATCTGGAAGAGAGGAGGAGGAAAGGCGAGCAATGGTTAGGGGGAAATGTTATTTTTTTCACCTCTTCATTTTCCTTAAGCTTAGGAAACACAAGAAGTTAGTGGCTAAATTCAAGCTAAAAATTTC MASGRDERPPWRLGRLLLLMCLLLLGSSARAAHIKKAEATTTTTSAGAEAAEGQFDRYYHEEELESALREAAAAGLPGLARLFSIGRSVEGRPLWVLRLTAGLGSLIPEGDAGPDAAGPDAAGPLLPGRPQVKLVGNMHGDETVSRQVLIYLARELAAGYRRGDPRLVRLLNTTDVYLLPSLNPDGFERAREGDCGFGDGGPSGASGRDNSRGRDLNRSFPDQFSTGEPPALDEVPEVRALIEWIRRNKFVLSGNLHGGSVVASYPFDDSPEHKATGIYSKTSDDEVFKYLAKAYASNHPIMKTGEPHCPGDEDETFKDGITNGAHWYDVE|geclwwitqtdahhseyleerrrkgeqwlggnvifftssfslslgntrs* 11BR036 ENSG00000073331.18 ENSG00000271985.1 +/+ -/- chr4:112315852 chr10:79526632 5'UTR/splice-site exon/splice-site translocation 3 3 0 36 15 high . . . . . ENSG00000073331.18 ENSG00000271985.1 ENST00000504176.6 ENST00000606318.1 downstream downstream . ^(AATTCCTACTTCCTGAAACTGAAGCCGTTTATGAGAAACAG)TGTGTTTCAGAGAGGCTGTACCAGAATTAACTCTGCTCAGAGTTAGATTTGCTGGTCTTAAAGTACTTTTCCTCTTTAAGATAAAA___GAAGTTCTTCTAAATCAGGAATGGATTGAAATCTAATGAACCGAAACTTTGG|GTCGTGAAGGTGTTTATTGTCCTGACCCCACAGTTTCTGTCCCGTGACAAGGACCAGCTGACCAAGGAGCTGCAGAAGCATGTAAAGTCAGTGACAGTCTCATGCAAGTCCCCAAGGAAG . 11BR036 ENSG00000041353.10 ENSG00000121653.11 +/+ +/+ chr18:54828700 chr11:45898085 5'UTR/splice-site CDS/splice-site translocation 4 1 0 45 10 high . . |Phosphotyrosine_interaction_domain_(PTB/PID)(100%),Variant_SH3_domain(100%) . . ENSG00000041353.10 ENSG00000121653.11 ENST00000262094.10 ENST00000241014.6 downstream upstream mismatches(1) ^(ACTCGCAGTCCTGACGGGCA)GGGGCTGCGGACCGCCCGGCCTTGGACCCATCCGGAGCCACAGGTTGGAGGAGATAAGTAGCTGTCCCCGTGCTCATCGCCCTGTGGAGCAGATCCTGTCTCCTTGCTGACGGTGGAGCCCGGGAGTTCCAGGGCTTGGGAAGGGGAAGGAAACCTCTCTGAAATCTGACACCTGCTCTCCCGGCAAGGAAACTTCGCAGGCTG|GCTCACCCATGACATCAGCCTGGAGGAGTTTGAGGATGAAGACCTCTCGGAGATCACTGATGAGTGTGGCATCAGCTTACAGTGCAAAGACACCCTGTCCTTACGG___CCCCCGCGCGCCGGGCTGCTCgCTGCGGGCGGCGGCGGCGCGGGGAGCCGGTTGCAGGCCGAGATGCTGCAGATGGACCTGATCGACGCGACGGGGGACACTCCCGG(GGCCGAGGACGACGAGGAGGACGACGACGAGGAGCGCGCGGCCCGGCGGCCGGGAGCGGGGCCGCCCAAGGCCGAGTCCGGCCAGGAGCCGGCGTCCCGCGGCCAGGGCCAGAGCCAAGGCCAGAGCCAGGGCCCGGGCAGCGGGGACACGTACCGGCCCAAGCGGCCCACCACGCTCAACCTCTTTCCGCAGGTGCCGCGGTCTCAG___GACACACTGAATAATAATTCTCTGGGCAAAAAGCACAGTTGGCAGGATCGGGTGTCTCGATCATCCTCACCCCTGAAGACAG___GGGAGCAGACACCACCGCATGAACACATCTGCCTGAGCGATGAGCTGCCCCCCCAGAGCGGCCCCGCCCCCACCACAGATCGAGGCACCTCCACCGACAGCCCTTGCCGCCGCAGCACAGCCACCCAGATGGCACCTCCGGGTGGTCCCCCTGCTGCCCCGCCTGGGGGTCGGGGCCACTCGCATCGAGACCGAATCCACTACCAGGCCGATGTGCGACTAGAGGCCACTGAGGAGATCTACCTGACCCCAGTGCAGAGGCCCCCAGACGCTGCAGAGCCCACCTCCGCCTTCCTGCCGCCCACTGAGAGCCGGATGTCAGTCAGCTCCGATCCAGACCCTGCCGCCTACCCCTCCACGGCAGGGCGGCCGCACCCCTCCATCAGTGAAGAGGAAGAGGGCTTCGACTGCCTGTCGTCCCCAGAGCGGGCTGAGCCCCCAGGCGGAGGGTGGCGGGGGAGCCTGGGGGAGCCGCCGCCACCTCCACGGGCCTCTCTGAGCTCGGACACCAGCGCCCTGTCCTATGACTCTGTCAAGTACACGCTGGTGGTAGATGAGCATGCACAGCTGGAGCTGGTGAGCCTGCGGCCGTGCTTCGGAGACTACAGTGACGAGAGTGACTCTGCCACCGTCTATGACAACTGTGCCTCCGTCTCCTCGCCCTATGAGTCGGCCATCGGAGAGGAATATGAGGAGGCCCCGCGGCCCCAGCCCCCTGCCTGCCTCTCCGAGGACTCCACGCCTGATGAACCCGACGTCCATTTCTCCAAGAAATTCCTGAACGTCTTCATGAGTGGCCGCTCCCGCTCCTCCA___GTGCTGAGTCCTTCGGGCTGTTCTCCTGCATCATCAACGGGGAGGAGCAGGAGCAGACCCACCGGGCCATATTCAG___GTTTGTGCCTCGACACGAAGACGAACTTGAGCTGGAAGTGGATGACCCTCTGCTAGTGGAGCTCCAGGCTGAAGACTACTGGTACGAGGCCTACAACATGCGCACTGGTGCCCGGGGTGTCTTTCCTGCCTATTACGCCATCGAGGTCACCAAGGAGCCCGAGCACATGGCAG___CCCTGGCCAAAAACAGTGACTGGGTGGACCAGTTCCGGGTGAAGTTCCTGGGCTCAGTCCAGGTTCCCTATCACAAGGGCAATGACGTCCTCTGTGCTGCTATGCAAAAG___ATTGCCACCACCCGCCGGCTCACCGTGCACTTTAACCCGCCCTCCAGCTGTGTCCTGGAGATCAGCGTGCGGGGTGTGAAGATAGGCGTCAAGGCCGATGACTCCCAGGAGGCCAAG___GGGAATAAATGTAGCCACTTTTTCCAGTTAAAAAACATCTCTTTCTGCGGATATCATCCAAAGAACAACAA___GTACTTTGGGTTCATCACCAAGCACCCCGCCGACCACCGGTTTGCCTGCCACGTCTTTGTGTCTGAAGACTCCACCAAAGCCCTGGCAGAGTCCGTGGG___GAGAGCATTCCAGCAGTTCTACAAGCAGTTTGTGGAGTACACCTGCCCCACAGAAGATATCTACCTGGAGTAGCTGTGCAGCCCCGCCCTCTGCGTCCCCCAGCCCTCAGGCCAGTGCCAGGACAGCTGGCTGCTGACAGGATGTGGCACTGCTTGAGGAGGGGCACCTGCCACCGCCAGAGGACAAGGAAGTGGGGGCCGCTGGCCCAGGGTAGGGGAGGGTGGGGCAATGGGGAGAGGCAAATGCAGTTTATTGTAATATATGGGATTAGATTCATCTATGGAGGGCAGAGTGGGCTGCCTGGGGATTGGGAGGGACAGGGCTTGGGGAGCAGGTCTCTGGCAGAGAAGGATGTCCGTTCCAGGAGCACACGGCCCTGCCCCATCCTGGGCCTTACCTCCCCTGCCAGGGCTCGGGCGCTGTGGCTCCTGCCTTGATGAAGCCCGTGTCCTGCCTTGATGAAGCCTGTGCCACCTGCAAGTGCCCGCCCTGCCCCTGCCCCAACCCCCACCGAAGAGCCCTGAGCTCAGGCTGAGCCCAGCCACCTCCCAAGGACTTTCCAGTGAGGAAATGGCAACACGTGGAGGTGAAGTCCCTGTTCTCAGCTCCGTCATCTGCGGGGCTTCTGGGTGGCTCCTGCCACTGACCTCACCGGCATGCTGGCCTGTGGCAGGCCTAGGACCTCAGGCGGGGAGGAGGAGCTGCCGCAAGGCCCTGTCCCAGCAGAAGAGGGAGGCTTCCTGACTGACACAGGCCAGCCCCATCTTGGTCCTGTCACCCTGGCCCCAACTATTAAAGTGCCATTTCCTGTCTGGA)$ . 11BR036 ENSG00000110514.19 ENSG00000167306.20 +/+ -/- chr11:47296055 chr18:50055378 CDS/splice-site CDS/splice-site translocation 1 2 0 53 7 high in-frame . DENN_(AEX-3)_domain(100%),uDENN_domain(100%)|DIL_domain(100%),IQ_calmodulin-binding_motif(100%),Myosin_head_(motor_domain)(100%) . . ENSG00000110514.19 ENSG00000167306.20 ENST00000402192.6 ENST00000285039.12 downstream downstream . ^(CGCTCGGAGCGGCGCCGCGCTGGGGAGCGACTGACGCCCCGCTGCCGGGGGACGTCGGGCTGGGCCTGGCCAGTCCCCCAGAGCTTGGGAG___ACTTCGATTTTCAGAATTCCTCCTGGGAATGCTGACTCCTTGCTTGGTGCCCTGATGCTTCTCTGAGATAAACTGATGAATTGGAACCATGGTGCAAAAGAAGAAGTTCTGTCCTCGGTTACTTGACTATCTAGTGATCGTAGGGGCCAG___GCACCCGAGCAGTGATAGCGTGGCCCAGACTCCTGAATTGCTACGGCGATACCCCTTGGAGGATCACACTGAGTTTCCCCTGCCCCCAGATGTAGTGTTCTTCTGCCAGCCCGAGGGCTGCCTGAGCGTGCGGCAGCGGCGCATGAGCCTTCGGGATGATACCTCTTTTGTCTTCACCCTCACTGACAAGGACACTGGAGTCACGCGATATGGCATCTGTGTTAACTTCTACCGCTCCTTCCAAAAGCGAATCTCTAAGGAGAAGGGGGAAGGTGGGGCAGGGTCCCGTGGGAAGGAAGGAACCCATGCCACCTGTGCCTCAGAAGAGGGTGGCACTGAGAGCTCAGAGAGTGGCTCATCCCTGCAGCCTCTCAGTGCTGACTCTACCCCTGATGTGAACCAGTCTCCTCGGGGCAAACGCCGGGCCAAGGCGGGGAGCCGCTCCCGCAACAGTACTCTCACGTCCCTGTGCGTGCTCAGCCACTACCCTTTCTTCTCCACCTTCCGAGAGTGTTTGTATACTCTCAAGCGCCTGGTGGACTGCTGTAGTGAGCGCCTTCTGGGCAAGAAACTGGGCATCCCTCGAGGCGTACAAAG___GGACACCATGTGGCGGATCTTTACTGGATCGCTGCTGGTAGAGGAGAAGTCAAGTGCCCTTCTGCATGACCTTCGAGAGATTGAGGCCTGGATCTATCGATTGCTGCGCTCCCCAGTACCCGTCTCTGGGCAGAAGCGAGTAGACATCGAGGTCCTACCCCAAGAGCTCCAGCCAGCTCTGACCTTTGCTCTTCCAGACCCATCTCGATTCACCCTAGTGGATTTCCCACTGCACCTTCCCTTGGAACTTCTAGGTGTGGACGCCTGTCTCCAGGTGCTAACCTGCATTCTGTTAGAGCACAAG___GTGGTGCTACAGTCCCGAGACTACAATGCACTCTCCATGTCTGTGATGGCATTCGTGGCAATGATCTACCCACTGGAGTATATGTTTCCTGTCATCCCGCTGCTACCCACCTGCATGGCATCAGCAGAGCAG___CTGCTGTTGGCTCCAACCCCGTACATCATTGGGGTTCCTGCCAGCTTCTTCCTCTACAAACTGGACTTCAAAATGCCTGATGATGTATGGCTAGTGGATCTGGACAGCAATAGG___GTGATTGCCCCCACCAATGCAGAAGTGCTGCCTATCCTGCCAGAACCAGAATCACTAGAGCTGAAAAAGCATTTAAAGCAG___GCCTTGGCCAGCATGAGTCTCAACACCCAGCCCATCCTCAATCTGGAGAAATTTCATGAGGGCCAGGAGATCCCCCTTCTCTTGGGAAGGCCTTCTAATGACCTGCAGTCCACACCGTCCACTGAATTCAACCCACTCATCTATGGCAATGATGTGGATTCTGTGGATGTTGCAACCAG___GGTTGCCATGGTACGGTTCTTCAATTCCGCCAACGTGCTGCAGGGATTTCAGATGCACACGCGTACCCTGCGCCTCTTTCCTCGGCCTGTGGTAGCTTTTCAAGCTGGCTCCTTTCTAGCCTCACGTCCCCGGCAGACTCCTTTTGCCGAGAAATTGGCCAGGACTCAGGCTGTGGAGTACTTTGGGGAATGGATCCTTAACCCCACCAACTATGCCTTTCAGCGAATTCACAACA___ATATGTTTGATCCAGCCCTGATTGGTGACAAGCCAAAGTGGTATGCTCATCAGCTGCAGCCTATCCACTATCGCGTCTATGACAGCAATTCCCAGCTGGCTGAGGCCCTGAGTGTACCACCAGAGCGGGACTCTGACTCCGAACCTACTGATGATAG___TGGCAGTGATAGTATGGATTATGACGATTCAAGCTCTTCTTACTCCTCCCTTGGTGACTTTGTCAGTGAAATGATGAAATGTGACATTAATGGTGATACTCCCA___ATGTGGACCCTCTGACACATGCAGCACTGGGGGATGCCAGCGAGGTGGAGATTGACGAGCTGCAGAATCAGAAGGAAGCAGAAGAGCCTGGCCCAGACAGTGAGAACTCTCAGGAAAACCCCCCACTGCGCTCCAGCTCTAGCACCACAGCCAGCAGCAGCCCCAGCACTGTCATCCACGGAGCCAACTCT___GAACCTGCTGACTCTACGGAGATGGATGATAAGGCAGCAGTAGGCGTCTCCAAGCCCCTCCCTTCCGTGCCTCCCAGCATTGGCAAATCGAACGTGGACAGACGTCAGGCAGAAATTGGAGAGGGGTCAGTGCGCCGGCGAATCTATGACAATCCATACTTCGAGCCCCAATATGGCTTTCCCCCTGAGGAAGATGAGGATGAGCAGGGGGAAAGTTACACTCCCCGATTCAGCCAACATGTCAGTGGCAATCG___GGCTCAAAAGCTGCTGCGGCCCAACAGCTTGAGACTGGCAAGTGACTCAGATGCAGAGTCAGACTCTCGGGCAAGCTCTCCCAACTCCACCGTCTCCAACACCAGCACCGAGGGCTTCGGGGGCATCATGTCTTTTGCCA___GCAGCCTCTATCGGAACCACAGTACCAGCTTCAGTCTTTCAAACCTCACACTGCCCACCAAAGGTGCCCGAGAGAAGGCCACGCCCTTCCCCAGTCTGAAAG___GAAACAGGAGGGCGTTAGTGGATCAGAAGTCATCTGTCATTAAACACAGCCCAACAGTGAAAAGAGAACCTCCATCACCCCAGGGTCGATCCAGCAATTCTAG___TGAGAACCAGCAGTTCCTGAAGGAGGTGGTGCACAGCGTGCTGGACGGCCAGGGAGTTGGCTGGCTCAACATGAAAAAGGTGCGCCGGCTGCTGGAGAGCGAGCAGCTGCGAGTCTTTGTCCTGAGCAAGCTGAACCGCATGGTGCAGTCAGAGGACGATGCCCGGCAGGACATCATCCCGGATGTG___GAGATCAGTCGGAAGGTGTACAAGGGAATGTTAGACCTCCTCAAGTGTACAGTCCTCAGCTTGGAGCAGTCCTATGCCCACGCGGGTCTGGGTGGCATGGCCAGCATCTTTGGGCTTTTGGAGATTGCCCAGACCCACTACTATAGTAAAG___AACCAGACAAGCGGAAGAGAAGTCCAACAGAAAGTGTAAATACCCCAGTTGGCAAGGATCCTGGCCTAGCTGGGCGGGGGGACCCAAAGGCTATGGCACAACTGAGAGTTCCACAACTGGGACCTCGGGCACCAAGTGCCACAGGAAAGGGTCCTAAGGAACTGGACACCAGAAGTTTAAAGGAAGAAAATTTTATAGCATCTATTG___GGCCTGAAGTAATCAAACCTGTCTTTGACCTTGGTGAGACAGAGGAGAAAAAGTCCCAGATCAGCGCAGACAGTGGTGTGAGCCTGACGTCTAGTTCCCAG___)AGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACC___GTGAGTAATAGCTCTGGAGAGACCCTTGGAGCTGACAGTGACTTGAGCAGCAATGCAGGTGATGGACCAGGTGGCGAGGGCAGTGTTCACCTGGCAAGCTCTCGGGGCACTTTGTCTGATAGTGAAATTGAGACCAACTCTGCCACAAGCACCATCTTT|TGCACAAGGGTCTGGATCCCTGACCCTGATGAGGTATGGCGCTCAGCTGAGTTAACCAAGGACTACAAAGAAGGAGACAAGAGCCTACAGCTCAGACTGGAGGATGAAACG___ATTCTGGAATACCCAATTGATGTACAACGCAACCAGCTGCCCTTCTTACGGAATCCAGATATCTTGGTGGGAGAAAATGACCTGACTGCCCTTAGCTATCTTCATGAGCCTGCAGTTTTGCATAATTTGAAGGTCCGTTTCCTGGAGTCCAACCATAT(CTACACTTACTGTG___GTATCGTACTTGTTGCCATTAATCCTTATGAACAGTTGCCAATCTATGGACAAGATGTCATCTATACCTACAGTGGCCAAAACATGGGAGACATGGACCCCCACATCTTTGCTGTGGCAGAAGAAGCCTACAAGCAGATGGCCAG___AGATGAGAAGAATCAGTCCATCATAGTCAGTGGGGAGTCTGGAGCCGGGAAGACGGTATCAGCCAAGTATGCCATGCGCTATTTCGCCACCGTTGGTGGCTCGGCCAGTGAAACCAACATCGAAGAGAAGGTGCTGGCATCCAGTCCCATCATGGAG___GCCATTGGAAATGCCAAGACCACCCGCAATGACAACAGCAGCCGTTTTGGCAAGTACATCCAGATTGGCTTTGACAAAAGGTACCACATCATCGGGGCCAACATGAGGACTTACCTCTTGGAGAAGTCCAGAGTGGTCTTCCAG___GCAGATGATGAGAGGAATTACCACATCTTTTACCAGCTCTGTGCTGCTGCCGGTCTTCCAGAATTTAAAGAGCTTGCACTAA___CAAGTGCAGAGGACTTTTTCTATACATCACAGGGAGGAGACACTTCCATCGAGGGTGTGGACGATGCTGAGGACTTTGAGAAGACTCGACAAGCCTTCACACTCCTCG___GAGTGAAAGAGTCCCATCAGATGAGCATTTTTAAGATAATTGCTTCTATCTTGCACCTTGGAAGTGTGGCGATTCAGGCTGAGCGTGATGGTGATTCCTGTAGTATATCA___CCCCAGGATGTATACCTAAGCAACTTCTGCCGACTGCTAGGGGTGGAGCACAGTCAGATGGAGCACTGGCTGTGTCATCGCAAGCTGGTCACCACCTCGGAGACCTACGTCAAGACCATGTCCCTGCAGCAGGTGATCAATGCGCGCAACGCCCTGGCGAAGCACATCTATGCCCAGTTGTTCGGCTGGATTGTGGAGCACATCAACAAGGCCCTGCACACCTCCCTCAAGCAGCACTCCTTCATCGGGGTCCTGGACATCTATGG___GTTTGAGACATTTGAGGTAAACAGCTTTGAGCAGTTCTGTATCAACTATGCAAATGAAAAGCTCCAGCAGCAGTTCAACTCG___CATGTTTTCAAACTGGAGCAAGAAGAATACATGAAGGAACAGATCCCTTGGACCCTGATTGATTTTTATGATAACCAACCTTGTATCGACCTCATTGAAGCCAAGCTGGGTATCTTGGACCTGTTGGATGAAGAATGTAAG___GTCCCCAAAGGAACTGACCAGAACTGGGCTCAGAAGCTCTATGACCGGCACTCCAGCAGCCAGCACTTCCAGAAGCCCCGCATGTCCAACACGGCCTTCATCATCGTCCACTTTGCAGACAAG___GTGGAGTACCTCTCTGATGGTTTTCTGGAGAAAAACAGAGACACGGTGTATGAAGAGCAGATCAATATCCTGAAGGCCAGCAAG___TTCCCACTAGTGGCTGACTTGTTTCATGATGACAAGGACCCTGTTCCTGCCACCACCCCTGGGAAGGGGTCATCTTCGAAGATCAGCGTCCGTTCTGCCAGACCCCCCATGAAAGTCTCCAACAAGGAGCACAAGAAAACCGTTGGCCACCAG___TTCCGTACCTCCCTGCATCTGCTCATGGAGACCCTGAATGCCACGACACCTCACTATGTCCGCTGCATCAAGCCCAACGATGAGAAGCTCCCCTTTCA___CTTTGACCCAAAGAGAGCAGTGCAGCAACTCAGAGCCTGCGGGGTGTTGGAGACGATTCGAATCAGTGCAGCTGGCTACCCATCCAG___GTGGGCCTACCATGACTTTTTCAACCGGTATCGGGTGCTGGTCAAGAAGAGAGAGCTCGCCAACACAGACAAAAAGGCCATCTGCAGGTCTGTCCTGGAGAACCTCATCAAG___GACCCCGACAAGTTCCAGTTTGGCCGCACCAAGATCTTCTTTCGAGCAGGCCAGGTGGCCTACCTGGAGAAGCTGCGGGCTGACAAGTTCCGGACAGCCACCATCATGATCCAGAAAACTGTCCGGGGATGGCTGCAGAAGGTGAAATATCACAGGCTGAAGGGGGCTACCTTAACCCTGCAGAGGTACTGCCGGGGACACCTGGCCCGCAG___GCTGGCTGAGCACCTGCGGAGGATCAGAGCGGCTGTGGTGCTCCAGAAACATTACCGCATGCAGAGGGCCCGCCAGGCCTACCAGAGGGTCCGCAGAGCTGCCGTTGTTATCCAGGCCTTCACCCGGGCCATGTTTGTGCGGAGAACCTACCGCCAG___GTCCTCATGGAGCACAAGGCCACCACCATCCAGAAGCACGTGCGGGGCTGGATGGCACGCAGGCACTTCCAGCGGCTGCGGGATGCAGCCATTGTCATCCAGTGTGCCTTCCGGATGCTCAAGGCCAGGCGGGAGCTGAAGGCCCTCAGGATTGAGGCCCGCTCAGCAGAGCATCTGAAACGTCTCAACGTGGGCATGGAGAACAAGGTGGTCCAGCTGCAGCGGAAGATCGATGAGCAG___AACAAAGAGTTCAAGACACTTTCAGAGCAGTTGTCCGTGACCACCTCAACATACACCATGGAGGTAGAGCGGCTGAAGAAGGAGCTGGTGCACTACCAGCAGAGCCCAGGTGAGGACACCAGCCTCAGGCTGCAGGAGGAGGTGGAGAGCCTGCGCACAGAGCTGCAGAGGGCCCACTCGGAGCGCAAGATCTTGGAGGACGCCCACAGCAGGGAGAAAGATGAGCTGAGGAAG___CGAGTTGCAGACCTGGAGCAAGAAAATGCTCTCTTGAAAGATGAGAAAGAACAGCTCAACAACCAAATCCTGTGCCAGTCTAAAG___ATGAATTTGCCCAGAACTCTGTGAAGGAAAATCTCATGAAGAAAGAACTGGAGGAGGAGCGATCCCGGTACCAGAACCTTGTGAAGGAATATTCACAGTTGGAGCAGAGATACGACAACCTTCGGGATGAAATGACCATCATAAAG___CAAACTCCAGGTCATAGGCGGAACCCATCAAACCAAAGTAGCTTAGAATCTGACTCCAATTACCCCTCCATCTCCACATCTGAGATCGGAGACACTGAGGATGCCCTCCAGCAGGTGGAG___GAAATTGGCCTGGAGAAGGCAGCCATGGACATGACGGTCTTCCTGAAGCTGCAGAAGAGAGTACGGGAGCTGGAGCAGGAGAGGAAAAAGCTGCAAGTGCAGCTGGAGAAGAGAGAACAGCAGGACAGCAAGAAAGTCCAG___GCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAG___AGGCAAGAGCTGGAGTCAGAGAACAAAAAGCTGAAGAATGACCTGAATGAGCTGAGGAAAGCCGTGGCCGACCAAGCCACGCAGAATAACTCCAGCCACGGCTCCCCAGATAGCTACAGCCTCCTGCTGAACCAGCTCAAGCTGGCCCACGAGGAGCTCGAGGTGCGCAAGGAGGAGGTGCTCATCCTCAGGACCCAGATCGTGAGCGCCGACCAGCGGCGACTCGCCGGCAGGAACGCG___GAGCCGAACATTAATGCCAGATCAAGTTGGCCTAACAGTGAAAAGCATGTTGACCAGGAGGATGCCATTGAGGCCTATCACGGGGTCTGCCAGACAAACAG___CAAGACTGAGGATTGGGGATATTTAAATGAAGATGGAGAACTCGGCTTGGCCTACCAAGGCCTAAAGCAAGTTGCCAG___GCTGCTGGAGGCTCAGCTGCAGGCCCAGAGCCTGGAGCATGAGGAGGAGGTGGAGCATCTCAAGGCTCAGCTCGAGGCCCTGAAGGAGGAGATGGACAAACAGCAGCAGACCTTCTGCCAGACGCTACTGCTCTCCCCAGAGGCCCAGGTGGAATTCGGCGTTCAGCAGGAAATATCCCGGCTGACCAACGAGAATCTG___GACCTTAAAGAACTGGTAGAAAAGCTGGAAAAGAATGAGAGGAAGCTCAAAAAGCAACTGAAGATTTACATGAAGAAAGCCCAGGACCTAGAAG___CTGCCCAGGCATTGGCCCAGAGTGAGAGGAAGCGCCATGAGCTCAACAGGCAGGTCACGGTCCAGCGGAAAGAGAAGGATTTCCAGGGCATGCTGGAGTACCACAAAGAGGACGAGGCCCTCCTCATCCGGAACCTGGTGACAG___ACTTGAAGCCCCAGATGCTGTCGGGCACAGTGCCCTGTCTCCCCGCCTACATCCTCTACATGTGCATCCGGCACGCGGACTACACCAACGACGATCTCAAGGTGCACTCCCTGCTGACCTCCACCATCAACGGCATTAAGAAAGTCCTGAAA___AAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAG___GGCTTCATGACTCAGAACACTGCAAAGCAGAATGAACACTGTCTTAAGAATTTTGACCTCACCGAATACCGTCAGGTGCTGAGTGACCTTTCCATTCAGATCTACCAGCAGCTCATTAAAATTGCCGAGGGCGTGTTACAGCCGATGATAG___TTTCTGCCATGTTGGAAAATGAGAGCATTCAGGGTCTATCTGGTGTGAAGCCCACCGGCTACCGGAAGCGCTCCTCCAGCATGGCAGATGGGGATAACTCATACTGCCTGGAAGCTATCATCCGCCAGATGAATGCCTTTCATACAGTCATGTGTGACCAGGGCTTGGACCCTGAGATCATCCTGCAGGTATTCAAACAGCTCTTCTACATGATCAACGCAGTGACTCTTAACAACCTGCTCTTGCGGAAGGACGTCTGCTCTTGGAGCACAGGCATGCAACTCAG___GTACAATATAAGTCAGCTTGAGGAGTGGCTTCGGGGAAGAAACCTTCACCAGAGTGGAGCAGTTCAGACCATGGAACCTCTGATCCAAGCAGCCCAGCTCCTGCAATTAAAGAAGAAAACCCAGGAGGACGCAGAGGCTATCTGCTCCCTGTGTACCTCCCTCAGCACCCAGCAG___ATTGTCAAAATTTTAAACCTTTATACTCCCCTGAATGAATTTGAAGAACGGGTAACAGTGGCCTTTATACGAACAATCCAG___GCACAACTACAAGAGCGGAATGACCCTCAGCAACTGCTATTAGATGCCAAGCACATGTTTCCTGTTTTGTTTCCATTTAATCCATCTTCTCTAACCATGGACTCAATCCACATCCCAGCGTGTCTCAATCTGGAATTCCTCAATGAAGTCTGAAGATGCATGTTTCCAGCATTAGTTTGATTCCCAATGTGAGCAAGAAGGAAGTATATACAGTAAAGTAAATTCAAGGATCTGTTAAATCTGGTAAAAGTAGATCAAATCAGAGATTGACAGCCTGTGGAGGGTGCTGAACTATACAGAATTAGACACAACTATGTCATTATTTTTTGTACCTACTGCTCAGAATAAAAACACTTGAAATATGGAAGATTTTAAGTTTGATTTCAGTCCAACACATATACATAATTTATAGACACCAAGCAGTCCCCATAGACATATAAAAGGTGTCAATTCTATAAAACGAAGCTGCCTAGTTTTGATCTTTGCATAGAACTAGAGAATGTCCAAATTAAAATACCAAATATATATAAGTCACATAAATTGCCTTCAAAGGGCTTTAACAAATAATGGTACTAATAACCATGATAATGGCATATACTGACATTTCCCAAAGTTTGCAAACCATAGGTGTGGTTGAGTTTGTGGTGAGATGTTTTAAGAACAAAAATATGGGGATGAGACTTCTGAGAAATATTCCCAAAATATTTTTTAATGGCTGATTATACACAGACAGTGGTGTAACTGACCTCCAGACCAGACATTTTGAGTACTGGTTTCTGAAGCAAAATTAGAAGTGCCAGTCCTCAGTGTGCTCAAACGCTTTTGTGTTATCTTGATTTAATGGAAGAGATTATTAAAATGCTGCTATCCCAAACTCCAAGTGAGAAAGATGGAAAAATATTTTGTTTCTGATGCTAGTCCATACACTTTCCAAGTCCCACAAAACTTTCACAAAAATGTATATAAGCTAAATATTAGAAACGGATAACAAACTTGTTTTATTTATAGATGTAAAAACCAAACAAGTCAATATGAAAGCTTTTAATCTCTTAATACCATTAAGCTTCCAGTAAGAGCATCACATAATGCTCTACTGTTCCAGAAACCAAATAGTAAAACAAACTAAAGTTCGCACATCAGATCATCTGAAAAACCTTCAAAAATAATCAGTTCAGGGATATTATACAAAAGTTTGGGTTTTTTTTTTTTAAGAGAATAAAATGGCTTAGGTCAACTTTCCCTTTTCAGGTTATTTTCAACGTTTTTCAAATTTAGCACACAAAAAATTGTAAATATCTCTCCCACAAAATAAGGATTTTAAAAAAGTAATTCAGTAATATAACAGGCTTAGATGTTTGCTGCTCTTAGAATTTTTTTTAACTTGTTTTTGGTTTCTTCAAAAGCAAGCATTCAATTGGAAACCCATATTCTTTCCACACTTTTTTTTACTGTCTTTTCTGTATTTCTTGATAGCAGTATGCTGTTCCCATAAGAAAAAAATGGTATTTGCAAATCATGGAAGAACAGCCTCTGTATTACATTGAGAAAATAAGATTTATCCATGAATTGGAAGTAGAACAGCCTGCCTTCACCCTCTTTTACTCAACCACCCAACTTAAAAGGCTCTTGGAAACACAGCACACTCCACGCTACCTTCTGCACTGTGCCCTTAGAGCACAGCTTCCTCAGTTGTTCTCTGCATCTCCTGGGGCTTAGGCCAGTCTTAGCCTGGGTTAAGGCTGCTGACATTGTGTTCCAATCAGTTGTCATGGGCATTATCCCCTCTACATCCACATTAAACATGCCGGCTTCTCTTGGGCATCGGCAGAGCTGTGCCTTTTTCTTTCAGTTACAGTTACATAATCACTGACGTCCATGACACTTACCCATGGATCCATGTGCTGACTTCATTTAGAAGGCCAATCTAAAACAACTGGGTTTGTGGCTACCTCTTTAAAGTTGTTTGTGAAGGATAATTTGTTTTTTAATGCACTTTAGTTTGAAAGTGAGTCTCTTATGTAAGGACCATCCTTAAAAGACCAAAAATGCCTTGTTAGAGTGTTAAGGAGTTTTGACATGCAGTGGTTCCACAAACACAGTGGCTTACTATCCTTATACACTGTCTTATACCATCATTCTCTCCATCTCTCTTGGTCACTACTCTCTGCTGTCACTGGTTAATCACTAGGTGCCAAGAGCTTACTGAATAAAAGCTTGGCAATTAGAATAAATGGGGAGGGAAGGACCTTATGAATAGTCCATTTAGCCTAAGAAATGGCAGATTTAGTTCTTCTCTTCCAAAAGATAAAGGTATATCCTGGAATTGTACTTAAAACTTACAGATGACTAACAAATATATACTTTATATGTAGTTAATATTTAGATCTGTCTTATTTAATACTTGGAGGCTAGAAGAAGCATCTTTAGGGGAACTATATAATCTTTTGTTAGCATTTTCTCTGCATTTTAAAAAATCATTTCAATTCAAACATTTATCAGTGTCATGAAATCAGTAATGACTCTTTAACAATTCAGGTTTGAACTCTGCATTAGATGTCTCTTTAATTTTTTAATATTTAAAATTTAGTTGACATTTTTTTCACCAGGTGCCTTTAGCGGTTACTAAGATAACTGACATCAGTTGTTTCTCTGAAATAAGTGTTGCTGTGGGAATAATTTTAATGTTCAAGGTGATATCATGGGGGAGTTTTGTCTTTTAAAACATTAGAAGCATTTTAAATATTAAGAATCAAATATTTATAGATCAAAACTTGTGTTTTAAGTATTATACGGGACCTGTTTACTTATAGTAAATGTGAATGTACACATGAGTTGTTGCTGAAGCTGACAAGCATATTACATACATGCATTTTCCCTGTGCCCTCATAGTTGCAGTTAGAGTTCCAGTACCTGTAGGCTCACCTGGGAGGCAGATTAGACCCAAAGGTAGATGTTTTTCCCCTTTCCATGAAGCATGTCAGTGGGAGTTGCTTCCTTTGATTTCCCTAGTACTAAATTTTAAGGCTTTTGTAAAAACAAAACAAAACTAGGAGCTTGGAACAGTTAAAAATCAACACTGCTACCATCAATTCATCAAATATTTACTTAGAGCTTTCATACATTAAGATTCCAGTAACCAATAAATTAGAATTCATTTCTTCTGCATAAAGTAAATTTTCATACACTTGACCTACTAAGACAGCAAGGGTGTCCTAAATTGAGGCATTTGTATAATGCCTGCATAACTAAATGGTCACTAAAATGGGACAGCATGGGGCAAGACCTTGTAGTTCTTCACAGAATATTTGTGGTCAGTTTCTCCAATTAATTTGCTGCATGAGCCAAATAACCATAATTCACTTTTTATACCCACTGGTGCCATAATTAGAGAATTAGAGGGTGTAGACAGAGGTTAATGCCAATGAGAAACACAGGACAGGGTTTTTTTTATTATAAAGGTCATTAGATACAAAAGATTGTTTTTCAAAAAATTTCTAATTCTAACAAAGGGGATCAATCAGAAATGAAACTAAGCTACTTTCTAAAGTGACACTGTATCAGAATAATCCAGATTTGAATATAACATTTTGCCACCAACTGACATTTAGATGAAGGACTGCCTCTCTGAAAGAGTTCAGATCATATTCAGGGGTGAATCCAACACCATGGAAGAAAGACTACTGATGAAAATATTTTCCCACTTTGCACAAATCTGTAAACTACACCTTTGTTTATAGAAAAATGCTTGTAATAGTCACTGTAATATTTAGCTGTGGATAAAAATTTGTGGAAATAAATACTTTTGAATAAAGAGGTGTGCCAAATCTAAATGAAA)$ MVQKKKFCPRLLDYLVIVGARHPSSDSVAQTPELLRRYPLEDHTEFPLPPDVVFFCQPEGCLSVRQRRMSLRDDTSFVFTLTDKDTGVTRYGICVNFYRSFQKRISKEKGEGGAGSRGKEGTHATCASEEGGTESSESGSSLQPLSADSTPDVNQSPRGKRRAKAGSRSRNSTLTSLCVLSHYPFFSTFRECLYTLKRLVDCCSERLLGKKLGIPRGVQRDTMWRIFTGSLLVEEKSSALLHDLREIEAWIYRLLRSPVPVSGQKRVDIEVLPQELQPALTFALPDPSRFTLVDFPLHLPLELLGVDACLQVLTCILLEHKVVLQSRDYNALSMSVMAFVAMIYPLEYMFPVIPLLPTCMASAEQLLLAPTPYIIGVPASFFLYKLDFKMPDDVWLVDLDSNRVIAPTNAEVLPILPEPESLELKKHLKQALASMSLNTQPILNLEKFHEGQEIPLLLGRPSNDLQSTPSTEFNPLIYGNDVDSVDVATRVAMVRFFNSANVLQGFQMHTRTLRLFPRPVVAFQAGSFLASRPRQTPFAEKLARTQAVEYFGEWILNPTNYAFQRIHNNMFDPALIGDKPKWYAHQLQPIHYRVYDSNSQLAEALSVPPERDSDSEPTDDSGSDSMDYDDSSSSYSSLGDFVSEMMKCDINGDTPNVDPLTHAALGDASEVEIDELQNQKEAEEPGPDSENSQENPPLRSSSSTTASSSPSTVIHGANSEPADSTEMDDKAAVGVSKPLPSVPPSIGKSNVDRRQAEIGEGSVRRRIYDNPYFEPQYGFPPEEDEDEQGESYTPRFSQHVSGNRAQKLLRPNSLRLASDSDAESDSRASSPNSTVSNTSTEGFGGIMSFASSLYRNHSTSFSLSNLTLPTKGAREKATPFPSLKGNRRALVDQKSSVIKHSPTVKREPPSPQGRSSNSSENQQFLKEVVHSVLDGQGVGWLNMKKVRRLLESEQLRVFVLSKLNRMVQSEDDARQDIIPDVEISRKVYKGMLDLLKCTVLSLEQSYAHAGLGGMASIFGLLEIAQTHYYSKEPDKRKRSPTESVNTPVGKDPGLAGRGDPKAMAQLRVPQLGPRAPSATGKGPKELDTRSLKEENFIASIGPEVIKPVFDLGETEEKKSQISADSGVSLTSSSQRTDQDSVIGVSPAVMIRSSSQDSEVSTVSNSSGETLGADSDLSSNAGDGPGGEGSVHLASSRGTLSDSEIETNSATSTIF|CTRVWIPDPDEVWRSAELTKDYKEGDKSLQLRLEDETILEYPIDVQRNQLPFLRNPDILVGENDLTALSYLHEPAVLHNLKVRFLESNHIYTYCGIVLVAINPYEQLPIYGQDVIYTYSGQNMGDMDPHIFAVAEEAYKQMARDEKNQSIIVSGESGAGKTVSAKYAMRYFATVGGSASETNIEEKVLASSPIMEAIGNAKTTRNDNSSRFGKYIQIGFDKRYHIIGANMRTYLLEKSRVVFQADDERNYHIFYQLCAAAGLPEFKELALTSAEDFFYTSQGGDTSIEGVDDAEDFEKTRQAFTLLGVKESHQMSIFKIIASILHLGSVAIQAERDGDSCSISPQDVYLSNFCRLLGVEHSQMEHWLCHRKLVTTSETYVKTMSLQQVINARNALAKHIYAQLFGWIVEHINKALHTSLKQHSFIGVLDIYGFETFEVNSFEQFCINYANEKLQQQFNSHVFKLEQEEYMKEQIPWTLIDFYDNQPCIDLIEAKLGILDLLDEECKVPKGTDQNWAQKLYDRHSSSQHFQKPRMSNTAFIIVHFADKVEYLSDGFLEKNRDTVYEEQINILKASKFPLVADLFHDDKDPVPATTPGKGSSSKISVRSARPPMKVSNKEHKKTVGHQFRTSLHLLMETLNATTPHYVRCIKPNDEKLPFHFDPKRAVQQLRACGVLETIRISAAGYPSRWAYHDFFNRYRVLVKKRELANTDKKAICRSVLENLIKDPDKFQFGRTKIFFRAGQVAYLEKLRADKFRTATIMIQKTVRGWLQKVKYHRLKGATLTLQRYCRGHLARRLAEHLRRIRAAVVLQKHYRMQRARQAYQRVRRAAVVIQAFTRAMFVRRTYRQVLMEHKATTIQKHVRGWMARRHFQRLRDAAIVIQCAFRMLKARRELKALRIEARSAEHLKRLNVGMENKVVQLQRKIDEQNKEFKTLSEQLSVTTSTYTMEVERLKKELVHYQQSPGEDTSLRLQEEVESLRTELQRAHSERKILEDAHSREKDELRKRVADLEQENALLKDEKEQLNNQILCQSKDEFAQNSVKENLMKKELEEERSRYQNLVKEYSQLEQRYDNLRDEMTIIKQTPGHRRNPSNQSSLESDSNYPSISTSEIGDTEDALQQVEEIGLEKAAMDMTVFLKLQKRVRELEQERKKLQVQLEKREQQDSKKVQAEPPQTDIDLDPNADLAYNSLKRQELESENKKLKNDLNELRKAVADQATQNNSSHGSPDSYSLLLNQLKLAHEELEVRKEEVLILRTQIVSADQRRLAGRNAEPNINARSSWPNSEKHVDQEDAIEAYHGVCQTNSKTEDWGYLNEDGELGLAYQGLKQVARLLEAQLQAQSLEHEEEVEHLKAQLEALKEEMDKQQQTFCQTLLLSPEAQVEFGVQQEISRLTNENLDLKELVEKLEKNERKLKKQLKIYMKKAQDLEAAQALAQSERKRHELNRQVTVQRKEKDFQGMLEYHKEDEALLIRNLVTDLKPQMLSGTVPCLPAYILYMCIRHADYTNDDLKVHSLLTSTINGIKKVLKKHNDDFEMTSFWLSNTCRLLHCLKQYSGDEGFMTQNTAKQNEHCLKNFDLTEYRQVLSDLSIQIYQQLIKIAEGVLQPMIVSAMLENESIQGLSGVKPTGYRKRSSSMADGDNSYCLEAIIRQMNAFHTVMCDQGLDPEIILQVFKQLFYMINAVTLNNLLLRKDVCSWSTGMQLRYNISQLEEWLRGRNLHQSGAVQTMEPLIQAAQLLQLKKKTQEDAEAICSLCTSLSTQQIVKILNLYTPLNEFEERVTVAFIRTIQAQLQERNDPQQLLLDAKHMFPVLFPFNPSSLTMDSIHIPACLNLEFLNEV* 11BR036 ENSG00000135127.11 ENSG00000226729.3(28720),ENSG00000135127.11(1395) +/+ ./+ chr12:120090071 chr12:119988474 CDS/splice-site intergenic duplication 1 2 0 34 4 high out-of-frame . . . . ENSG00000135127.11 . ENST00000397558.6 . downstream upstream duplicates(1) ^(ATGTCCGCTTTCTGCCTGGGCTTGGTCGGCCGCGCTTCAGCACCCGCCGAGCCGGACAGCGCCTGCTGCATGGAGCTGCCCGCCGCGGCCGGGGACGCAGTCCGGAGTCCCGCCGCCGCCGCCGCCCTCATCTTCCCCGGGGGCTCCGGGGAGCTAGAACTGGCGTTAGAGGAGGAGCTGGCGCTGCTGGCGGCCGGGGAGCGGCCGTCCGACCCCGGGGAACACCCTCAGGCCGAGCCTGGGTCTCTGGCCGAGGGGGCCGGACCGCAGCCGCCGCCCTCCCAGGACCCCGAGCTGCTGTCGGTGATCCGACAGAAGGAGAAGGATCTGGTGTTGGCGGCCCGGCTGGGTAAGGCGCTGCTCGAGAGGAACCAGGACATGAGCCGGCAGTACGAGCAGATGCATAAGGAGCTGACAGACAAGCTCGAG___CACTTAGAGCAAGAGAAACATGAATTGAGAAGACGATTTGAGAACCGAGAAGGGGAGTGGGAAGGCCGAGTGTCAGAGCTGGAGAGTGATGTGAAGCAGCTACAGGATGAGTTGGAGAGGCAGCAGATTCATCTGCGGGAAGCAGATCGAGAAAAATCACGGGCTGTCCAGGAACTGTCGGAACAGAACCAAAGGCTATTGGATCAGCTCAGCAGG___GCATCAGAAGTTGAGAGACAACTCTCCATGCAGGTCCACGCCCTCAGAGAAGACTTTCGGGAGAAAAACTCATCAACCAACCAGCACATTATCCGGCTGGAGAGCCTTCAGGCCGAG___ATCAAGATGCTGTCAGATCGGAAACGGGAGCTGGAGCATCGTCTCAGCGCTACTTTAGAGGAAAATGACCTGCTCCAAGGGACCGTGGAGGAGCTACAGGACCGGGTGCTAATCCTGGAGAGGCAGGGCCATGACAAGGACCTACAG___CTGCACCAAAGCCAGCTGGAGCTTCAGGAGGTGCGTCTCTCCTGCCGACAGCTGCAGGTGAAGGTGGAAGAACTCACTGAGGAGAGGAGTCTGCAGAGCTCTGCCGCCACCAGCACATCCCTCCTGTCAGAGATCGAGCAGAGCATGGAGGCTGAGGAGCTGGAGCAGGAGCGAGAGCAG___CTGAGACTGCAGCTCTGGGAAGCCTACTGCCAGGTTCGCTATCTGTGCTCACACCTTCGAGGCAATGACAGTGCTGACTCAGCCGTCTCCACGGACTCCTCCATGGACGAGTCTTCAGAAACCTCGTCCGCCAAGGATGTGCCAGCCGGCAGCTTGCGCACTGCCCTCAATGAGCTCAAGAGACTGATACAGAGCATTGTGGATGGCATGGAGCCCACG___GTGACACTGCTGAGTGTGGAGATGACTGCCCTAAAAGAGGAGAGAGACCGACTCAGAGTCACTT)CTGAGGACAAGGAGCCAAAGGAGCAGCTTCAGAAGGCCATCAGGGACCGCGACGAGGCCATTtCAAA___GAAGAATGCTGTGGAGCTGGAACTTGCCAAGTGCAGGATGGATATGATGTCTCTGAACAGCCAGTTGCTGGATGCCATTCAGCAGAAACTGAACCTCTCGCAGCAGCTGGAAGCTTGGCAG|AAACCCTTTCTCTCCGGGCTGCTGATCTGCGAAGCATCTGGTCCTTCATATCCCTGAGTCATCAGCATGAAGATGCCTGGTTTCCGAAGTCCTCC MSAFCLGLVGRASAPAEPDSACCMELPAAAGDAVRSPAAAAALIFPGGSGELELALEEELALLAAGERPSDPGEHPQAEPGSLAEGAGPQPPPSQDPELLSVIRQKEKDLVLAARLGKALLERNQDMSRQYEQMHKELTDKLEHLEQEKHELRRRFENREGEWEGRVSELESDVKQLQDELERQQIHLREADREKSRAVQELSEQNQRLLDQLSRASEVERQLSMQVHALREDFREKNSSTNQHIIRLESLQAEIKMLSDRKRELEHRLSATLEENDLLQGTVEELQDRVLILERQGHDKDLQLHQSQLELQEVRLSCRQLQVKVEELTEERSLQSSAATSTSLLSEIEQSMEAEELEQEREQLRLQLWEAYCQVRYLCSHLRGNDSADSAVSTDSSMDESSETSSAKDVPAGSLRTALNELKRLIQSIVDGMEPTVTLLSVEMTALKEERDRLRVTSEDKEPKEQLQKAIRDRDEAIsKKNAVELELAKCRMDMMSLNSQLLDAIQQKLNLSQQLEAWQ|kpflsglliceasgpsyp* 11BR036 ENSG00000110497.14 ENSG00000166960.16 -/- -/- chr11:46430891 chr18:33092910 intron CDS/splice-site translocation 0 1 1 1 2 high . . . . . ENSG00000110497.14 ENSG00000166960.16 . ENST00000383096.7 upstream downstream . GTACAGCATCTCCCTCTTTGCACAG|AAAATAATAGCTGATTCACTTGAAGAAAATCTGCGTTTAGCTCAAGAGTATCAACAGCTACAGATTACATTCTTAAAAGAAAAGGACAATTATTTCAATATATATGATAAACAGC(TATCACTTGATACTTCAATTAGAGATAAGAAACAG___CTCTGTCAGCTGCAGAGAAGGATGCACACACTGTGGCAGGAGCACTTCAAACTGGTGGTCCTCTTCAGCCAGATGAGGCTGGCCAACTTCCAGACAGACTCTCAGGAGAGTATTCAGAAAATATTAGCTGTGCAG___GAGGAATCTTCAAATTTAATGCAACACATCTTAGGTTTCTTCCAGACTTTGACAGATGGCACATGCGAAAACGATGGTTAAGCAAACAACCAATGTATCTTGGATGCTGAAATAAAAGACAAGAAAAGTCACACAGTTCAGATAACAGTGTAATTGGACATTCACCTGTTTGCCATTTCACACTTCCATGAACGAAAAACTCACTCACCTCCCAGCATGCTTTGCCACTCTTTTACTCACAGCAAATCCATAACAATGAAACAGGTGACTTTCATGCTGCTGTCAGGAACGATCTAATTTCAGCTCTGGGTGACTGATTGCAATTGGCTTTGCCTCATCTGATAATTAATCTATGTCACCATTAATTGGAAGAGAGAATAATTACTGGCGGTGTTGACAGTGACTGTTCGCTTCCCCAGATTTCCCTATCGTCTTGGCCCAAATAAAGGCTTTGCCATTCAGTACTTAAAGTTTGTGTAAACTGTAACAATATCTATGCCCATGTGACACTTTGAGACACTCTGTCTAATGTACTTTTGTTTTTGTGTTTACCAGTCTTTTTTAGCTCACTGAGAGCTGTCTCTCTCAATCACTCCTCAATGTTCTATCTTAATTTTGTGGAAGTTTAAAGTTTTCAATGAGCTGGAGATGAATGATTAATGAATAAATTTAAATGCTTCATTTT)$ . 11BR036 ENSG00000110497.14 ENSG00000166960.16 -/- -/- chr11:46433474 chr18:32974681 CDS/splice-site CDS/splice-site translocation 2 0 0 35 5 medium in-frame . . . . ENSG00000110497.14 ENSG00000166960.16 ENST00000534300.5 ENST00000383096.7 upstream downstream . ^(TCTTGCTTGATGTCTCCTGAGCGGCGGCGGCGCCGGGTCGAGGGCTGAGTTGTCCGCGAGGCCCCGCGCTCAAGCCGCCTTCTCCTGCCGGTCGGTAGAACGGACCCCTTCCTTTATTCCTGTCTCCTCTTTCTTTTTCCCTGTGGCTCAGCCCGTTCGCTGGACTGCAAACCGAGCTCCCGTCTGCCTTGCAG___ATTTCCATGAGGACAACTTACAAGGACCTGTATGGCCTCATTTTAGCTGCTTCAGTGTGTTGGAGCTGTTACTTGCTCCTTCATTTCCTGGGCCTGGTGTGACAGTGGCTACTGAGCGCCATGAAGGTTGTCCCAGAAAAGAATGCTGTCCGGATACTCTGGGGGCGAGAACGGGGTGCTCGGGCCATGGGAGCTCAGCGGCTTCTGCAGGAGCTGGTAGAAGATAAAACCCGGTGGATGAAATGGGAGGGCAAG___AGAGTAGAACTGCCGGATAGTCCACGCTCTACCTTCTTATTGGCCTTCAGCCCAGACAG___GACTCTCTTAGCCTCCACCCATGTGAACCATAATATCTATATTACGGAGGTGAAGACTGGCAAGTGTGTTCATTCCCTGATTGGACACCGCCGTACTCCATGGTGTGTCACTTTTCATCCCACCATCTCAGGCCTTATTGCTTCTGGCTGCCTAGATGGGGAGGTTAGGATTTGGGATTTACAC___GGTGGCAGTGAAAGCTGGTTCACAGATAGCAACAATGCCATTGCCTCCCTGGCTTTCCACCCTACGGCTCAGCTCCTGCTGATTGCCACTGCCAATGAGATCCACTTCTGGGACTGGAGTCGACGGGAACCCTTTGCTGTGGTGAAGACAGCTAGTGAGATGGAACGGGTCCG___TCTGGTGAGATTTGATCCACTTGGACACTACTTACTCACAGCAATTGTTAACCCCTCTAATCAACAG___GGTGATGACGAACCAGAGATCCCCATAGATGGAACAGAATTATCCCACTACCGTCAGCGTGCCCTCCTGCAATCACAGCCAGTTCGCCGGACGCCTCTCCTCCACAATTTCCTGCACATGCTGTCCTCCCGCTCTTCTGGCATCCAGGTGGGAGAGCAAAGCACAGTGCAAGATTCTGCTACCCCCTCACCCCCACCGCCTCCCCCTCAGCCCTCCACGGAGCGCCCCAGGACTTCCGCTTACATCAGGCTCCGACAGCGGGTCAGTTACCCCACAGCTGAGTGCTGCCAGCACCTTGGGATCCTGTGCCTTTGCAGCCGCTGCTCTGGCACTCGAGTTCCTTCCCTCTTGCCACACCAGGACAGTGTCCCCCCTGCTTCTGCCAGAGCTACTACCCCTTCCTTTTCTTTTGTACAGACCGAGCCCTTCCATCCCCCGGAGCAGGCCTCGTCAACGCAGCAGGACCAGGGCCTCCTGAACCGGCCGTCTGCCTTCAGTACAGTCCAGAGCAGCACTGCCGGCAACACGCTCCGCAACCTCAGTCTGGGTCCTACCCGCCGCTCTTTGGGAGGGCCTCTGTCTAGCCACCCTTCTAGGTATCACCGAGAAATAGCTCCTGGGTTGACAGGATCTGAGTGGACCCGGACAGTACTCAGTCTGAACTCCCGCTCTGAGGCGGAATCCATGCCCCCGCCCAGAACCAGTGCCTCTTCGGTGAGTTTGCTGTCTGTGCTGAGACAGCAGGAAGGTGGCTCTCAGGCATCTGTGTACACTTCAGCCACAGAAGGGAGGGGTTTTCCGGCATCAGGGTTGGCAACTGAGTCAGATGGAGGGAATGGCTCCAGCCAAAACAACTCGGGCAGCATTCGCCATGAGCTTCAGTGTGACCTGAGACGCTTCTTTCTGGAGTATGACCGGCTTCAGGAGCTGGATCAGAGCCTGAGTGGGGAAGCTCCCCAGACCCAACAGGCCCAGGAAATGCTCAACAATAACATTGAATCTGAGAGGCCAGGCCCTTCCCACCAGCCCACCCCACACAGCAGTGAGAACAACTCCAACCTGTCCCGTGGCCACCTGAATCGCTGTCGTGCTTGCCACAATCTCCTGACCTTCAACAACGATACCCTGCGCTGGGAAAGAACCACACCTAACTACTCCTCTGGCGAGGCTAGTTCCTCTTGGCAGGTCCCCAGCTCCTTTGAGAGTGTGCCATCAAGTGGCAGCCAGTTGCCACCTCTCGAGCGGACTGAGGGCCAAACGCCCAGCTCCAGCAGGCTGGAGTTGAGCAGCTCTGCTAGTCCGCAGGAGGAGAGGACTGTGGGGGTGGCCTTTAACCAGGAGACAGGCCACTGGGAAAGAATTTACACCCAGTCCAGCAGATCTGGAACTGTGTCACAGGAGGCCTTACATCAGGATATGCCTGAGGAGAGCTCTGAGGAGGATTCACTCAGGAG___GAGGCTGCTGGAATCTTCCCTCATTTCATTATCCCGTTATGATGGAGCAGGATCCAGAGAGCACCCAATTTACCCAGACCCAGCGAG___GGACAATGGTGACAGATCCAGGCACCGAGCTCCACGCAATGCCCGGATGTCTGCACCTTCGCTTGGACGCTTTGTCCCAAG___GCGTTTCTTGCTGCCTGAGTACTTGCCTTATGCTGGGATTTTTCATGAACGTGGACAGCCTGGCTTGGCTACTCACTCTTCTGTTAACAGGGTCCTGGCAG___GGGCAGTGATCGGTGATGGACAGTCTGCTGTGGCCAGTAACATTGCCAATACTACCTACCGGCTCCAGTGGTGGGACTTCACTAAGTTTGACCTCCCTGAAATCAGTAATG___CTTCCGTGAATGTGCTGGTGCAGAACTGCAAGATCTACAATGATGCCAGCTGTGACATTTCTGCAGATGGCCAGCTCCTGGCAGCTTTCATCCCCAGCAGCCAGAGGGGCTTTCCTGATGAAGGCATCCTGGCAGTGTACTCCCTGGCCCCCCATAACCTGGGCGAAATGCTCTACACCAAGCGATTTG___GTCCCAATGCCATTTCGGTGAGCCTGTCCCCAATGGGCAGATAT)GTAATGGTGGGCTTGGCCTCACGAAGGATCCTGCTGCACCCCTCCACAGAGCACATGGTGGCCCAGGTCTTCAGGCTGCAACAGGCCCATGGTGGAGAGACCTCCATGAGG|CTCTGTCAGCTGCAGAGAAGGATGCACACACTGTGGCAGGAGCACTTCAAACTGG(TGGTCCTCTTCAGCCAGATGAGGCTGGCCAACTTCCAGACAGACTCTCAGGAGAGTATTCAGAAAATATTAGCTGTGCAG___GAGGAATCTTCAAATTTAATGCAACACATCTTAGGTTTCTTCCAGACTTTGACAGATGGCACATGCGAAAACGATGGTTAAGCAAACAACCAATGTATCTTGGATGCTGAAATAAAAGACAAGAAAAGTCACACAGTTCAGATAACAGTGTAATTGGACATTCACCTGTTTGCCATTTCACACTTCCATGAACGAAAAACTCACTCACCTCCCAGCATGCTTTGCCACTCTTTTACTCACAGCAAATCCATAACAATGAAACAGGTGACTTTCATGCTGCTGTCAGGAACGATCTAATTTCAGCTCTGGGTGACTGATTGCAATTGGCTTTGCCTCATCTGATAATTAATCTATGTCACCATTAATTGGAAGAGAGAATAATTACTGGCGGTGTTGACAGTGACTGTTCGCTTCCCCAGATTTCCCTATCGTCTTGGCCCAAATAAAGGCTTTGCCATTCAGTACTTAAAGTTTGTGTAAACTGTAACAATATCTATGCCCATGTGACACTTTGAGACACTCTGTCTAATGTACTTTTGTTTTTGTGTTTACCAGTCTTTTTTAGCTCACTGAGAGCTGTCTCTCTCAATCACTCCTCAATGTTCTATCTTAATTTTGTGGAAGTTTAAAGTTTTCAATGAGCTGGAGATGAATGATTAATGAATAAATTTAAATGCTTCATTTT)$ MKVVPEKNAVRILWGRERGARAMGAQRLLQELVEDKTRWMKWEGKRVELPDSPRSTFLLAFSPDRTLLASTHVNHNIYITEVKTGKCVHSLIGHRRTPWCVTFHPTISGLIASGCLDGEVRIWDLHGGSESWFTDSNNAIASLAFHPTAQLLLIATANEIHFWDWSRREPFAVVKTASEMERVRLVRFDPLGHYLLTAIVNPSNQQGDDEPEIPIDGTELSHYRQRALLQSQPVRRTPLLHNFLHMLSSRSSGIQVGEQSTVQDSATPSPPPPPPQPSTERPRTSAYIRLRQRVSYPTAECCQHLGILCLCSRCSGTRVPSLLPHQDSVPPASARATTPSFSFVQTEPFHPPEQASSTQQDQGLLNRPSAFSTVQSSTAGNTLRNLSLGPTRRSLGGPLSSHPSRYHREIAPGLTGSEWTRTVLSLNSRSEAESMPPPRTSASSVSLLSVLRQQEGGSQASVYTSATEGRGFPASGLATESDGGNGSSQNNSGSIRHELQCDLRRFFLEYDRLQELDQSLSGEAPQTQQAQEMLNNNIESERPGPSHQPTPHSSENNSNLSRGHLNRCRACHNLLTFNNDTLRWERTTPNYSSGEASSSWQVPSSFESVPSSGSQLPPLERTEGQTPSSSRLELSSSASPQEERTVGVAFNQETGHWERIYTQSSRSGTVSQEALHQDMPEESSEEDSLRRRLLESSLISLSRYDGAGSREHPIYPDPARDNGDRSRHRAPRNARMSAPSLGRFVPRRFLLPEYLPYAGIFHERGQPGLATHSSVNRVLAGAVIGDGQSAVASNIANTTYRLQWWDFTKFDLPEISNASVNVLVQNCKIYNDASCDISADGQLLAAFIPSSQRGFPDEGILAVYSLAPHNLGEMLYTKRFGPNAISVSLSPMGRYVMVGLASRRILLHPSTEHMVAQVFRLQQAHGGETSMR|LCQLQRRMHTLWQEHFKLVVLFSQMRLANFQTDSQESIQKILAVQEESSNLMQHILGFFQTLTDGTCENDG* 11BR036 ENSG00000228191.1(1974),ENSG00000057252.13(20474) ENSG00000057252.13 ./+ +/+ chr1:179273240 chr1:179323437 intergenic CDS/splice-site deletion/read-through 1 11 0 409 3853 medium . . |MBOAT__membrane-bound_O-acyltransferase_family(100%) . . . ENSG00000057252.13 . ENST00000367619.8 downstream upstream duplicates(7) CTTAAGGTGTACATCCCACTTCCTACATGCGTGATTCCGTGATATTCAAAACCTATTTATTGAGTGCCTACAATCGCTGTGATACACACTACCCAGGGGAATCAAGAATGG|GTCGAATTGACATAAAACAGTTGATAGCAAAGAAGATAAAGTTGACAGCAGAGGCAGAG___GAATTGAAGCCATTTTTTATGAAGGAAGTTGGCAGTCACTTTGATGATTTTGTGACCAATCTCATTGAAAAGTCAGCATCATTAGATAATGGTGGGTGCGCTCTCACAACCTTTTCTGTTCTTGAAGGAGAGAAAAACtACCATAGAGCGAA___GGATTTGAGAGCACCTCCAGAACAAGGAAAGATTTTTATTGCAAGGCGCTCTCTCTTAGA___TGAACTGCTTGAAGTGGACCAC(ATCAGAACAATATATCACATGTTTATTGCCCTCCTCATTCTCTTTATCCTCAGCACACTTGTAGTAGATTACATTGATGAAGGAAG___GCTGGTGCTTGAGTTCAGCCTCCTGTCTTATGCTTTTGGCAAATTTCCTACCGTTGTTTGGACCTGGTGGATCATGTTCCTGTCTACATTTTCAGTTCCCTATTTTCTGTTTCAACATTGGGCCACTGGCTATAGCAAGAGTTCTCATCCGCTGATCCGTTCTCTCTTCCATGGCTTTCTTTTCATGATCTTCCAGATTGGAGTTCTAGGTTTTGGACCAACATATGTTGTGTTAGCATATACACTGCCACCAGCTTCCCGGTTCATCATTATATTCGAGCAG___ATTCGTTTTGTAATGAAGGCCCACTCATTTGTCAGAGAGAACGTGCCTCGGGTACTAAATTCAGCTAAGGAGAAATCAA___GCACTGTTCCAATACCTACAGTCAACCAGTATTTGTACTTCTTATTTGCTCCTACCCTTATCTACCGTGACAGCTATCCCAG___GAATCCCACTGTAAGATGGGGTTATGTCGCTATGAAGTTTGCACAG___GTCTTTGGTTGCTTTTTCTATGTGTACTACATCTTTGAAAGGCTTTGTGCCCCCTTGTTTCGGAATATCAAACAGGAGCCCTTCAGCGCTCGTGTTCTGGTCCTATGTGTATTTAACTCCATCTTGCCAG___GTGTGCTGATTCTCTTCCTTACTTTTTTTGCCTTTTTGCACTGCTGGCTCAATGCCTTTGCTGAGATGTTACGCTTTGGTGACAGGATGTTCTATAAG___GATTGGTGGAACTCCACGTCATACTCCAACTATTATAGAACCTGGAATGTGGTGGTCCATGACTGGCTATATTACTATGCTTACAAGGACTTTCTCTGG___TTTTTCTCCAAGAGATTCAAATCTGCTGCCATGTTAGCTGTCTTTGCTGTATCTGCTGTAGTACACGAATATGCCTTGGCTGTTTGCTTGAGCTTTTTCTATCCCGTGCTCTTCGTGCTCTTCATGTTCTTTGGAA___TGGCTTTCAACTTCATTGTCAATGATAGTCGGAAAAAGCCGATTTGGAATGTTCTGATGTGGACTTCTCTTTTCTTGGGCAATGGAGTCTTACTCTGCTTTTATTCTCAAGAATGGTATGCACGTCAGCACTGTCCTCTGAAAAAT___CCCACATTTTTGGATTATGTCCGGCCACGTTCCTGGACTTGTCGTTACGTGTTTTAGAAGCTTGGACTTTGTTTCCTCCTTGTCACTGAAGATTGGGTAGCTCCCTGATTTGGAGCCAGCTGTTTCCAGTTGTTACTGAAGTTATCTGTGTTATTTGGACCACTCCAGGCTTTACAGATGACTCACTCCATTCCTAGGTCACTTGAAGCCAAACTGTTGGAAGTTCACTGGAGTCTTGTACACTTAAGCAGAGCAGAACTTTTTTTGTGGGGCTGGGTGGGGGGAGAAGACCGACTAACAGCTGAAGTAATGACAGATTGTTGCTGGGTCATATCAGCTTTATCCCTTGGTAATTATATCTGTTTTGTTTCTTGACTCTGTCCAATCAGAGAATAAACATCATAGTTTCTTGGCCACTGAATTAGCCAAAACACTTAGGAAGAAATCACTTAAATACCTCTGGCTTAGAAATTTTTTCATGCACACTGTTGGAATGTATGCTAATTGAACATGCAATTGGGGAAGAAAAAATGTAGAATGATTTTTGCTATTTCTAGTAGAAAGAAAATGTCTGTTTTCCAAAGATAATGTTATACATCCTATTTTGTAATTTTTTTGAAAAAAGTTCAATGTTCAGTTTTCCTTAGTTTTTACCTTGTTTTCTCTATAGGTCATGATTTCTGTGAAGCAAAAAGATGCCTTTTACCATGAATTCTTGAGTTTACATCAATAATATTGTATATTAAGGGGATCAGAAGTAGGAAGGAAAAAATAAGAGATAGCAGAGGAAAAAGAAAAACATTTCCTCTTATAACTTCTGAAGTAATTTGTAAAAAAGATTTGTAGAGTCAATCATGTGTTTAAATTATTTTATCACAAACTTAACATGGAAGATATTCCTTTTTAACTTTGTGGTAACTTCTTTGAAGTTATTTAGAAATATCCTTTGGAACAATTATTTTATTGTCTAATAAATATTGACTTCTCTTGAATTATTTTGCAGACTAGTGAGTCTGTACCATAAGTATTAATCACCTCCACTCATATTAAAGTGATCATTAAGAATCCAGAAGCTGGCTTCTGCATTTGCTCAGTTATACTTTTAATGGTAGTATGTTTTTAGGTGGAATAAATTAATATGTGATTGGTTTCAAGGAAATGTACTCTATTATGTAATACTTCCATTTTATAAGATGCCCATTTCTAATACAATGTGTGTAGGAATTATTTGTATGTATGAGGTATGATTGTAAAGATTGAGCATTGGAAGGGGTATCAGAGACCATGTAGTTCAACTTTCCACTCAAAGTAAGATTTATGAATTATTTAAATGATAGTTGTTACTTGGAACAGCCACTTGAGAGGCTCTCTTGGTATTGTTTGGAATTGTTTTAAAGTCAGTTTGAGTCTCACAAGAAGGTAAGTAGAGTTTCTTAATAGTCACAACTTAATTTGAACCACAAGTATCCAGCTTAATCACGTATCTTACTCACGATACCACTGGTCCAGATGAGTTTAGGTAATTTTCAAACATTAAATCCAACTTCAACGGAAACAAATACACTCAAGGGAAGTTATTTTTAAAAAGGTACTCTGCATGTTCCCGCAGTAATGTTCTGCACAACAGTATTGTAATTGTAATGGAATCATAACCTGCTAACTAGTTTGCTTTAATATGGCTTGTAATTCTTGACATTTTTCTTAAAATTAAAACGAATTTTTATTTTGAATTTATAACTGCATTTTAAATATATTGGGGACAGATTGCGCTGAGACCTGGTTATGAGCAAGCCAATCTTTTGAATCTAGAGAATGGAATTCTTAGGTTTATATTTCTGTTAAGAAATACTATAAATATGACTCTTATGAGAAGACTTTGTTGCTCTGTAGTGTTTCTGAATACTGTATTTGTTGGATTGATCAAGGCTATTTTTCAAAAAGCTCTCTGCTTCCTGTTTGTTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCGGGGCTGGAGTGCAATGGCGTGAACTCAGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGAAGACAGGCGTTAGCCACCGTGCCCGGCCTCTGTTTCCTGTTATTAGTGATTTTCCTGCCCAAGATTGCAACAACAAATATGTAGAACTACAGACTGTTTAGAATGCTGAGACTGTTCTAAGAAACTTTCAAAAACAGTAGCACTTCAAGGAATGGTCACTTTCTATGAAAGAAACTGGTTTGATAGCCATAATCTTATTGCTAGCTGCTTTTAGCAAAAGTCTTTTCTTGAAACCACCACCTATACTCTTTAAACAAATAAAAACTAAAATCTCTTGCTAATGTTTCAGGAAGATTTATTTTTTCTATTTTGCTATTGTGGCGAAAATTATTTTCAGTTATAGGATACTTTTTTCCTTCTGAAAAGTAATAAGCTTAAAGTTTTTGTTTCTGTAAGATGTAATGATAGTAACTATTATTTTGGGCATATTAACCAACAGAACAATTATGTAGTATGTATATCACTTTCTCATTAGATCTCTAACTTGACCTTCTAGTACCTTTATGTGTGAGGATAAATTTGTTAGATCCTTTTATTCTCAATCTTGGATAATGATGCAAAATGGAATTTTGTTTTGTTTGTTGGTAGATTCACATACTAAAACTTTGCAGGTAAAGTTGCTTGCCTCATGTTAGAATTTAATTAGAAAACTGAGGCTGCCTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGAGTCTTGTTCTGTCGCCCAGGCCAGTTTTTTTTTTCTTGTACAGATGGGGTTTTACCATGTTGCTCAGGCTGGTCTCAAACTCCTGGAGTCAAGGGATCTATTTGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCTCCTGGCTCCTTGCTCCAGAATCAGTTTTTTAATGGAAGATAGCTCATACTTTGTTTTTGTTTTTAAAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGTAGTAGCGTGATCATAGCTCACTGCAGTCTCAAACTCCTGGACTCAAATAGTGCTCTGGAGTACCTAGAACTACAAGTGCCTACCACCACACCCAGCTAATTTATTTGTTTTTTTTTTTTTAGAGATGGGGGGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTCACCTCAAGCAAAACTCCCACTGCAGAAAGCTTTGGGATTACAGGCATGAGCCACCATGCCAAGCCCATACTTATTGTTAATAAAGTTTCAGTGACTTGCTTACTAATCTTATGCAAAATTTCATGTAATTTATGTAATACTACATAACAATGCTACATATGGTATGTATACATACACTGTATACACACAAAGGTCTGTTCTGGGTATTTTATGTATCTTATCTCTAGGCTTTATGGCTCTGAAATGGAGGGAACTGGACATAAATGTTTCAAGGAATAAAGTGAATGTTTTGTTTGTTTGTTTGTTTTGAGACGGAGTCTCAGTCACCAGGCTGGAGTGCAGTGCTGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGCATTACAGGTGCCTGCCACCATGTCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGATGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCAGCCTCAGCCTCCCATAGTGCTGGGATTATAGGCATGAGCCATGCTCCCGGCCAAAGTGAATGTTTTGGGTGAAGTTTATATAAGGATTTGACTTTTGTATCATTATTAAAGTTTCTGTCAGGTAATACAGTGTTGGCCCTCTGTTGAAATAAAATGTTACATATCGCTGGGTGTAGTGGCTCATGCCTTTAATCCCAGTACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCTCAGAAGTTTGAGACCAGCCTGGGCAACATAGCAAAACCTTGTCACTATAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACGCCTGTAGTCTCAGCTACTCAGTCGGCTGAGGTGGGAAGATGGCTTCAAGCCGGGAGATGGAGGCTTCAGTGACCTGTGACCTGTGATCACACCACTTAATTCCTCAAAACATTTATGTCCCAGTTCCCTCCATTTCAGAGCCATGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAATTACATATAAGCCCGGTTTAAAGAGAGGATAATATGCAACCACCCTAGTTGAAACAGAGTGTATCACTTCTTTCTCACCCTAAATTTAATGCCTAGTTTGAAAATCAGTAGACAATAATAAAGTTGATAAGCTTTAGGTTGGTAGGAAAGCTATGTAATCTATATAGTGTACTAAATCCTTATATGTTTTTGGTAAAAAAAGACTTTAATAGCTAATTTGGACTTCAGAAAATGGGTTAATTTCACGAGTGCATATCACTTTTGACTATATTAGTCAAGCATATTATTAAAGTTTAAAAAACTCTAAAACTTCTGTACTGTTTTTTTCTTAAGTGCTCTCTTCCTTATTTCTACATTACTACATTCACATTTCTGCTGTCAATAAGCCCTAATGGAGTGATAAACTTTAAGCTAGTAGATACTGCACCATGTCTTGTGGTGGTGTTTTCTTAATGAAATGGAAGCTGTACTTCCTGTTTGTTTTTAAATACTTTTGAAACAGACAGTTCATGTACCCCATCATTTAGAGATGCAGTTTGAATTTCCATGGAAAAAGGTGCCAATTTTGGATTGGGAAAGGAGCTGAAGCCCCAGTCAAGACTTTGCCATTTGGGGTAATGCAGCAGATTCCTGTGTCTGTATCTTTCCAGTGTGTGTGTTAATCCATAGTGTTCTGAGCACCAGAAGGGTCATGTAAATCTGAAGTTGTTATTAAAGGTTTTTCTATAGTGAAA)$ . 11BR036 ENSG00000133065.11 ENSG00000286619.1(14897),ENSG00000174502.19(2069) -/- ./- chr1:205798511 chr1:205910979 intron intergenic duplication 2 5 1 17 10 medium stop-codon . Divalent_cation_transporter(100%)| . . ENSG00000133065.11 . ENST00000367137.4 . upstream downstream duplicates(1) ^(AGTCTGCCCCAGATCACGTTTGCCACCGGCAGCCAACCAGTTGGGCCCGAGTCCGCGGGCAAGAAGCGATTGGGGGCGCGTGAGCTCGGCTCCCCGGTCCCCCGTCCGGGTGCCCCCCCGCCGGGCCCGAAGCGATATATCCTGCCCTCCCCGGCCACCTCCCCCGCGTGGAAGCGGAGCGGCGGCCTCGCTGTAACGCAGAAGCGAAATGTAGCGAGCCGGGTGTCGCGGCTGGACGCTCGCCTTGGCTGGGGGTGTGGGGGGGCACGCCGGGGGCCAAGGAGGACTGTCGAGGAGGAGTGATGAGAAGAGGGGGTGCCCTGCACCCCCCGAGACCACGGGCCACGCTGCCACTTGCCAGGCGCCCCCCTTCCTCCCAGGCGAGGGGCAG___GTGTTCCACACTGATTCTCGTGACTTTAAGGACCAGGGATTTGAAGAGGTATTAGCTCTTCCCAGGAAGGGAGGAAGTTTCTGGAAGAGAAGGGAAAGACGGCAGACGCTGCGCTGGGACCAGCAGAGCCTGAGGAGCTGTGGGAAGCTGACAGAGCCCAGCCAAAGGAGCGGGAAGGAGCCGCAGCCCCAGGCTGGCACTGTGTTCTGAAAGATTTGAACTCAAGCTGCTTTTTACGGAAGAGGGGCCACTTCAGAGGGCACCCCAGAATTTGGTTGAGCTCTTCTACTCTGGATGCCCCCTGCTCTGAGGAGCCTGCCACTGAGAACCAAAGAAGATAAGAGGACAGATACTTTTTCTTCAAGCACAGAGCTGGTGGGTTGGAGTCAGGCATCTGCACCCCTAGTGGCTGTCTGGTGAGGAATTTCTTGTTTCTTCCCAGCTTGCGGCTTCAGTGCTTGATGGGGCTGCCTGTTGGTGGATCAGTTTTTGCAGTGCCTGGTAGGAGTGGAGAGCCGTGGGAAGAGGTCCTGCGGCGCCCAAGCCTGGGTTCACCCCAAGACTAAGTTCTTTCCCAAGTTAGAGAAGAAGAGAGAAAGCAAAAAGAAGAGAGGAAAGTTCTCCCTTCCCCTCCTCCGTGCCTGTCATGTCCTCTAAGCCAGAGCCGAAGGACGTCCACCAACTGAACGGGACTGGCCCTTCTGCCTCTCCCTGCTCTTCAGATGGCCCAGGGAGAGAGCCCTTGGCTGGGACCTCAGAGTTCCTGGGGCCTGATGGGGCTGGGGTAGAGGTGGTGATTGAGTCTCGGGCCAACGCCAAGGGGGTTCGGGAGGAGGACGCCCTGCTGGAGAACGGGAGCCAGAGCAACGAAAGTGACGACGTCAGCACAGACCGTGGCCCTGCGCCACCTTCCCCGCTCAAGGAGACCTCCTTTTCCATCGGGCTGCAAGTACTGTTTCCATTCCTCCTGGCAGGCTTTGGGACCGTGGCTGCTGGCATGGTGTTGGACATCGTGCAG___CACTGGGAAGTCTTCCAGAAGGTGACAGAGGTCTTCATCCTAGTGCCTGCGCTGCTGGGGCTCAAAGGGAACCTGGAAATGACCCTGGCATCAAGGCTTTCCACTGCA___GCCAACATTGGACACATGGACACACCCAAGGAGCTCTGGCGGATGATCACTGGGAACATGGCCCTCATCCAG___GTGCAGGCCACGGTGGTGGGCTTCCTGGCGTCCATCGCAGCCGTCGTCTTTGGCTGGATCCCTGATGGCCACTTCAGTATTCCGCACGCCTTCCTGCTCTGTGCTAGCAGCGTGGCCACAGCCTTCATTGCCTCCCTGGTACTGG___GTATGATCATGATTGGAGTCATC)ATTGGCTCTCGCAAGATTGGGATCAACCCAGACAACGTGGCCcCACCCATTGCTGCCcGCCTGGGCGACCTCATCACCTTGGCGCTGCTCTCAGGCATCAGCTGGGGACTCTACCTGGAACTGAGTGAGCCACCAAGAGTGTGGCTTCTTGGAGTCCTGGGTGGGGTTGGGAGAGATGGTAGTAGTTTGCAAATGTGCAAGAGTTTCTTCTGTGTTCTTAAACTATTTGGTTTGAACACAGGTTGTAATAATTCCTGATCTTAGAGATTTGAAGCTAAGTAC|CATTTCTACAAAGACAATTTAAAATTTTTAAAAATTAGCTGTGCACGATGGCACATGCCTATAGTCCTAGCTACCAGGAAGGCTGAGACAAGAGGATCACTTGAGTCCAGGGATTTGAGATTACAATGAGCTgTGATCGCATCaCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTTCAAAAAGAAAAAAAAAATCACATAATAAACACTGTATGCTCTTTAATCTGGTTCACTTAT . 11BR036 ENSG00000199920.1(3886),ENSG00000156504.16(5332) ENSG00000170965.10 ./- -/- chrX:134764234 chrX:134602122 intergenic 5'UTR/splice-site deletion/read-through 5 2 0 22 27 medium . . . . . . ENSG00000170965.10 . ENST00000359237.9 upstream downstream duplicates(2),mismappers(1) CTCTAGGAGGAGGGTGAAGCTTCTTGTCTTCCAGACATTCCCGAGGAAAACTTACACGAGGAGTCTGTCAAGGAGTGCCACCCTTTG|CTGCCTTCACCAGTGAGCACAAAGCCACATTTCAAAGGAAACTGACAAATTATCCCCAGCTGCCAGAAGAAG___AAATCCTCACTGGACGGCTTCCTGTTTCCTGTGGTTCATTATCTGATTGGCTGCAGGGATGAAAGTTTTTAAGTTCATAGGACTGATGATCCTCCTCACCTCTGCGTTTTCAGCCGGTTCAGGACAAAGTCCAATGACTGTGCTGTGCTCCAT(AGACTGGTTCATGGTCACAGTGCACCCCTTCATGCTAAACAACGATGTGTGTGTACACTTTCATGAACTACACTTGGGCCTGGGTTGCCCCCCAAACCATGTTCAGCCACACGCCTACCAGTTCACCTACCGTGTTACTGAATGTGGCATCAGGGCCAAAGCTGTCTCTCAGGACATGGTTATCTACAGCACTGAGATACACTACTCTTCTAAGGGCACGCCATCTAAGTTTGTGATCCCAGTGTCATGTGCTGCCCCCCAAAAGTCCCCATGGCTCACCAAGCCCTGCTCCATGAGAGTAGCCAGCAAGAGCAGGGCCACAGCCCAGAAGGATGAGAAATGCTACGAGGTGTTCAGCTTGTCACAGTCCAGTCAAAGGCCCAACTGCGATTGTCCACCTTGTGTCTTCAGTGAAGAAGAGCATACCCAGGTCCCTTGTCACCAAGCAGGGGCTCAGGAGGCTCAACCTCTGCAGCCATCTCACTTTCTTGATATTTCTGAGGATTGGTCTCTTCACACAGATGATATGATTGGGTCCATGTGATCCTCAGGTTTGGGGTCTCCTGAAGATGCTATTTCTAGAATTAGTATATAGTGTACAAATGTCTGACAAATAAGTGCTCTTGTGACCCTCATGTGAGCACTTTTGAGAAAGAGAAACCTATAGCAACTTCATGAATTAAGCCTTTTTCTATATTTTTATATTCATGTGTAAACAAAAAATAAAATAAAATTCTGATCGCATAAAAA)$ . 11BR036 ENSG00000170965.10(74964),ENSG00000199920.1(26773) ENSG00000170965.10 ./- -/- chrX:134733435 chrX:134602122 intergenic 5'UTR/splice-site deletion/read-through 4 3 0 16 27 medium . . . . . . ENSG00000170965.10 . ENST00000359237.9 upstream downstream . CTCTAGGAGGAGGGTGAAGCTTCTTGTCTTCCAGACATTCCCGAGGAAAACTTACACGAGGAGTCTGTCAAGGAGTGCCACCCTTTG___GACAAAGAAAACGAGACTGACAACGAAGTCTGAAGGAGAAAGGCAAGTATCTTTCTGCTGGACTGGCCCTCAAGACTTAGCACAA|CTGCCTTCACCAGTGAGCACAAAGCCACATTTCAAAGGAAACTGACAAATTATCCCCAGCTGCCAGAAGAAG___AAATCCTCACTGGACGGCTTCCTGTTTCCTGTGGTTCATTATCTGATTGGCTGCAGGGATGAAAGTTTTTAAGTTC(ATAGGACTGATGATCCTCCTCACCTCTGCGTTTTCAGCCGGTTCAGGACAAAGTCCAATGACTGTGCTGTGCTCCATAGACTGGTTCATGGTCACAGTGCACCCCTTCATGCTAAACAACGATGTGTGTGTACACTTTCATGAACTACACTTGGGCCTGGGTTGCCCCCCAAACCATGTTCAGCCACACGCCTACCAGTTCACCTACCGTGTTACTGAATGTGGCATCAGGGCCAAAGCTGTCTCTCAGGACATGGTTATCTACAGCACTGAGATACACTACTCTTCTAAGGGCACGCCATCTAAGTTTGTGATCCCAGTGTCATGTGCTGCCCCCCAAAAGTCCCCATGGCTCACCAAGCCCTGCTCCATGAGAGTAGCCAGCAAGAGCAGGGCCACAGCCCAGAAGGATGAGAAATGCTACGAGGTGTTCAGCTTGTCACAGTCCAGTCAAAGGCCCAACTGCGATTGTCCACCTTGTGTCTTCAGTGAAGAAGAGCATACCCAGGTCCCTTGTCACCAAGCAGGGGCTCAGGAGGCTCAACCTCTGCAGCCATCTCACTTTCTTGATATTTCTGAGGATTGGTCTCTTCACACAGATGATATGATTGGGTCCATGTGATCCTCAGGTTTGGGGTCTCCTGAAGATGCTATTTCTAGAATTAGTATATAGTGTACAAATGTCTGACAAATAAGTGCTCTTGTGACCCTCATGTGAGCACTTTTGAGAAAGAGAAACCTATAGCAACTTCATGAATTAAGCCTTTTTCTATATTTTTATATTCATGTGTAAACAAAAAATAAAATAAAATTCTGATCGCATAAAAA)$ . 11BR036 ENSG00000280828.1 ENSG00000224940.8(30216),ENSG00000106348.18(376) +/+ ./+ chr7:128533730 chr7:128391901 exon/splice-site intergenic duplication 0 6 0 25 13 medium . . . . . ENSG00000280828.1 . ENST00000479267.2 . downstream upstream duplicates(1) ^AATGGAAGAATTGCATAGCCTGGACCCACGACGGCAGGAATTATTAGAGGCCAGGTTTACTGGAGTAGGTGTTAGTAAG|GTGTGTTTCGGCAGATGAGACCACAGGCGCTGGCCATGCTGTACTTCCACCTGTGCCCTGGCTGCACCATGTGGCATGATGAGGCTGCGGAGGGCaTTTTCCGGCAGCTGGGTGTGAGGCCCCGATGCTGGAATTCTACAGCCATGATGACCCCTCAACAATGCTGCCTGGCTGCAGGAGTTGCTGAGTGGCTTGCAGTAGGTGAAGCCTGGGAGAC . 11BR036 ENSG00000187741.15 ENSG00000187741.15 -/- -/+ chr16:89808294 chr16:89804259 CDS/splice-site intron inversion/5'-5' 1 2 0 26 6 medium out-of-frame . Fanconi_anaemia_group_A_protein_N_terminus(100%)| . . ENSG00000187741.15 ENSG00000187741.15 ENST00000389301.8 . upstream upstream . ^(GAGCCGCCGCCGGGGCTGTAGGCGCCAAGGCCATGTCCGACTCGTGGGTCCCGAACTCCGCCTCGGGCCAGGACCCAGGGGGCCGCCGGAGGGCCTGGGCCGAGCTGCTGG___CGGGAAGGGTCAAGAGGGAAAAATATAATCCTGAAAGGGCACAGAAATTAAAGGAATCAGCTGTGCGCCTCCTGCGAAGCCATCAGGACCTGAATGCCCTTTTGCTTGAG___GTAGAAGGTCCACTGTGTAAAAAATTGTCTCTCAGCAAAGTGATTGACTGTGACAGTTCTGAGGCCTATGCTAATCATTCTAGTTCATTTATAG___GCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGA___AAGAA)GCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAG___AGTTCTTTGTTGCTTGAAGCGGTGTGGCATCTTCACGTACAAGGCATTGTGAGCCTGCAAGAGCTGCTGGAAAG|GTGTCACTTGTAGTGGGATGGGTCTCCCAGCAGGTGTTCCTCAGAACCCAAATATCCCAGAGAGGATCTGAGAACTCACCAAGGAAAAGAGTCTCATCACTCAAACACAGCAGGCAAAGAGCCAGAAAACGAGCTTCAATGCACCTTAGAG MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNALLLEVEGPLCKKLSLSKVIDCDSSEAYANHSSSFIGSALQDQASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSMFSRLSFCQELWKIQSSLLLEAVWHLHVQGIVSLQELLEr|chl* 11BR036 ENSG00000223351.5(125657),ENSG00000132967.9(276334) ENSG00000151789.12 ./- -/- chr3:22105485 chr3:21665028 intergenic CDS/splice-site deletion 0 2 0 2 4 medium . . |Zinc-finger_of_C2H2_type(100%) . . . ENSG00000151789.12 . ENST00000281523.8 upstream downstream . GCTTTCAGGTCTTCAAACTACACCACCTGCTTTCCTGGGTCTCCAGCTTGCAGACAGCAGACTGTGGGACTTCTCAGCCTCCGTAATTGT|GTGGTACATGCCAGAGTCCTGCTCTCCCGGCCCTTGTCCGTCCACCAGCCCCTCCTTTGCAACCATCGCTGGATATTAAACCATTTCTTCCCTTTCCTCTTGACACTGCAGCTGCAGTCAACCTCTTCCCCAATTTCAATGCG___ATGGACCCGATTCAGAAAGCTGTAATAAACCATACATTCGGGGTTCCTCTTCCCCACC(GAAGAAAGCAAATCATATCATGCAACATTTGCCAGTTGAGATTTAATTCTGAT___AGCCAGGCTGCGGCCCACTACAAAGGCACGAAACATGCCAAGAAGCTCAAAGCACTGGAAGCCATGAAAAATAAGCAGAAATCTGTAACTGCCAAGGACAGCGCAAAGACTACCTTCACCTCCATCACTACCAATACCATCAATACCAGCTCTGACAAAACAG___ACGGTACTGCAGGGACACCAGCAATATCAACGACGACAACTGTGGAAATCCGCAAAAGCAGTGTTATGACAACTGAGATCACCTCTAAAGTGGAAAAAAGCCCAACGACAGCCACTGGCAATAGCTCATGTCCTTCTACTGAGACCGAGGAAGAAAAGGCAAAACGGCTTCTTTACTGTTCGCTATGCAAGGTTGCTGTCAACTCTGCCTCGCAGCTGGAGGCGCACAACAGTG___GTACTAAGCACAAAACCATGTTAGAAGCCCGGAATGGAAGTGGCACTATCAAAGCCTTTCCTAGGGCAGGAGTGAAAGGCAAAGGACCTGTTAATAAAGGAAACACAGGCCTCCAAAATAAAACATTTCACTGTGAAATCTGTGATGTGCACGTCAACTCGGAAACGCAACTTAAACAG___CACATTAGCAGTAGAAGGCACAAAGACAGAGCTGCTGGGAAGCCCCCGAAACCTAAATACAGTCCTTACAACAAACTACAGAAGACAGCACATCCACTGGGG___GTAAAATTAGTATTTTCAAAAGAACCTTCAAAGCCATTGGCTCCACGAATTCTACCAAATCCTCTAGCAGCTGCAGCAGCCGCAGCAGCAGTGGCAGTGAGTTCCCCCTTCAGTCTTCGAACTGCTCCAGCAGCAACACTGTTCCAGACTTCCGCGCTTCCTCCGGCACTCCTGCGGCCAGCTCCTGGACCCATTCGGACCGCCCACACTCCTGTGCTGTTTGCTCCTTACTAAATTCCAAATAGGAGTAATTGTACTGCAATAATTTTTCAAAAAACAAAAAACAAAACAAACAAAAGAGAACTATGCAGTGTTTATTTATAGTTTAAAGTATATCTGAAGAGCCAGGACTTTTGATAGTGAATTGAAAAGGTTATAAAAAAGTGGGGGAGGTTTGGGGGTGGGAGGGAGGGAGTGGTATTTTCTCCAAATTAAAGCATTCCTCTTGAACGCTGATTGTTTTAGAAGTGATCTCCAGCATTGATTTGTAGTGGTATCTAGACCTTCTGAAGCCTCTGTGACTGTGCTTTTGGGCACCTATTTCCCTCTGCATTGTCTGTCCTGCTTTATGAAACAACTATACATTGTCTAAGGGCATTAACTGGTTCCAATGTATATAAAATAATTTACTCTGTAGATTAAAATCGTACAAAAAAAAAGGAAAAAAACAAAAACAAAAGCAACACTGTGAATAGTACTACCCGTGCTGGTCCTCTTGCTATGACGGCAATTACTGGGTATTTATCCCAACAAAAGTAGATACAGTAGATGTCTTGTAAAACAATAGTGCTGTGTCTCAATCTATGCCACTAGGTTTTAAAGAATTGCAAAGGTAGAATGAACAACTATTTCATACCAATAAGCAGTCAAAAAATAAACATACACCGGATGGTGTCATGGAGGTCTCCCTGGTCAGCATTCTCCCCTCCTGTCTAGCTTGAAGATATAACAGGGCTAAGCTTAGAGATGGGGGAGGCATTAATAAAGGTGATTTCTTATAAAGTAGTAACTTCCCACCCTGAAGATATATTGCTGGAAACAGGGAAGTGTTTATAATGAACCTATATCTGAAAGCAGAGAAACCCATGCATCATGAGTGTTAAGAAAGAAATCAATACAACTCTTCTATTTCAAGGATGAAGAATCATAACCTAGAATGATAATGCAAAGTAAAGATCTTTCATTTAGTACATATCCAGTAAAAACGGAGAATGTTGCATCTCTGCAGTATCCCCTTTATATCATACCAGTAGGGTTGTTTCTTAGGCAAAGGTTTCTGCTTTAAGTATGATGGTAGAATTAAGCATTAGCTATTTTTATGGGTTTTTCTTGTTTTTTAGATTACCTGCTGACATGATATAAACAATTAATATATATTTAAATGTTAATAACAACAGGAAATATGAATCTGAGTTAATTGCACACCAATGACATAGTGTTAAAAAATACTGGTAAGTTCCACTCGACAATTATTTCTCCAGTGGAGTTGTGAAATACTGAGAGCCTTTGATATTCACCATCAGGCTGAAAGAAGTTGATGTTTTACCTTTAAAACAAGATTTATCAGGGGTATATATAAATATATGTATATTGTATATATGTTAGAAAGATTAAGAGAATAAGTTATAAAAAGAAAAAATCTATATAAAATAATTATATAACCATCCAGTGTTACATGTTATCATTAAATTGGTAACAAATGGCATAAAAATAGCTGTGCCTTTAATTTGTGATAAAGGCTATTTGCTTTTTCCCATAGAAAGCTGACATATACCTATCAAAATGGTGGGGTTTGATGCAGCCAGTCTGTTGCATTAATAAGAGCAATGACACTGAAACTTAGAATAATGACAAAACATACATGATTTAGGTTTAGAGAAAAAACTATTTTTGAAAAGGTTTTCTAAAGACTATTTAAAAATATAGGGAAGGATTGGGTGTGGCCTTCCTGAAACTGCTCTCAAAGTGTTGTAACCCTTGGAGAGGTATAAAGAATCAAGAGGAAACCATTTGAGACATAGGTATTTAGCATTTATCATTTTATATTTAAGAAACACCATAGCGTGCTTGGTGCTCAACATTAAACATGGTTTTTTGGAGTTCTTCTCCACCATCTAGCTATAGAAATTTGTCATATAAATGAATCTTTAAAGCAGTTGGCTTTATATATCCTTTGTTAACCAACCAAAACAAAAACAAAAAAAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGAATGGAAGGAAGGAAGGAAGAAAGGAGGGAAGGAAGGAAGGAAAGGAGATGGGGAAGGGAAGAAAAGGAAGGAAGGAAGAAAGGAAGATAATGTGTTCCATCAGTATTCTGGTAGAAAGAATTTCAAACCATGCTTCTCTGGTTAAATATATTGATTAGCATTAAAATTTGTTTTGAAAGTATCTGGTGATTTTGCATTTACCAGCATCTCTATTCTCTAGTTTTAGCAAGTGTTTCCTTTTTCACCTACAGACCCTGGTAGTTCAGCCAGGTGGATAGTTGCCCATAAGTCTGTTGTTTGGGGCTCTGTCTGTATCCCATGTGACCAGCTTCTAACCATTTTGAACTTTAGTTTCCCTTTTCTGCTATGTCAAATATTTTGATTTTCCATAATCATCCTGAGTCCCTATCCAACAACCTTTACAACTGATACAGCCTCACTTTCTGTTAGATAACTTAGTGTTAATTAAAGCAGTCTCACTAAAACGTGCTTTTGCTGTTCTTTCCCATTTTCACCAAAGTGAATGAGCCAGTCCACTAAAAATCAGGGCCTATGGGATACACAGTGTCCTGGGTCACAAGGCATTACTGTCTTTAATGATTTGCTGGGAACAAACGAATCAGCCATATTTTCTCCATCAGCCATATAAGAAATCTCAGAAATACCTGGATCCCTTCTGCCTCACTTCGCTATGGAACCATTTTTGTTTAAATGGTCTTTTAAATTGGAGTTGTAAGCATCAGTTGTCTTTTATTCACTACCTAATAAAGGATGAAGCCTAACCACAGAACTTACAGTGGATTCTCTGTGAGTTGTTTCCCCCACACTCCATATATTTACCAATACCAGATTAACATCCATTATAGTTCAGGCTGCCATAAAACTGTATCTTTTCCCTTAGGGAACTTTTTTCATGAATAAAGATCCACAATTTAGATTGGTCAGCAGTGTGCTGTGAAAATCCCTGAGGGTGGTCTGACTTTATGGTTTTACATTCCTTCCCATGCATCACACCATGGCAAGGAAAGTGATAGAGAAAGCAGCTCTGATTCATTTGAAACAAATATAAATGCATTGCAGAAGCCAAATGCCTCTGGAAAAAGCATTGTTGCACCTCAATCAGATCGTCCAGACAAATGGGAAACAGTCATTGGGGAGGTACTGTATTTCTCTTATGAGAAAACAGGCAATTACACATGATAAATTGCTCCTCTCACTGGACCTCAACTTTGAAGAGTACTTTTTTTATTCACATAAGCAAACATACTTGGCTTTTGGCAATTTATATCACCCCTGCCTCATTTGAAAGGATTTCTATCTTTAGGTACTATTTGGCTTCTCCTGATCTATCGCAGTAATTCACTGCCATTATCATCAGAGATGAAATTTGGTTTTTCTAAAGGTGCTACATATTTTGTTGCCAAGAAACTAGTTAGCAAAGGAGTATTTATATGTACTTGAAAATTAAAAGAGCAGGAAATCATAAAAGACTAAGAATTAAAAGACAGCAGAAGTTTCAAAATAGAATCAAAGAGGCTGTGCCTATTTGAGTTTCTAAGGCACAAACCAACACATAGTAGACATGAGCAATAAATATCACCAATTACAATTAAATTTTAAATTAATATCTTTGTCTTTGTACCAGTGTAATGTTTCAATTGTTCTGAAGAAATCAGATCAGAAAGCTAAAAGGTAACTGAAGTGGTATATAGGCCTGTTTCTTTAGATCTGAATTGAAGTAGAAAATTACCTTTCTATACATAAGCATGGATGACATTGTATTAATAACTTTGTTCACCCAAAAGCCGCATGAAGTGGTGGGAAAAGCAATGAGGAGCCTTAGAGTAGCCAGAGTCTATTGTAGACTTTGTCCCTGACCAACAGGGTAACTTAAATAGTCAACTAATGCCTTGCCCTTAATTTCTTCATCAGTAAAATGGATGACAGTGATTAATAGCTAAGCTGGTTTAATACATCAGCACTAGAGGGGCATTGCTTTTATCCTCTCAGGAATAAAAATTCTTTATTCGAGTGACCAATGCAGCTACTCACATACTTGCATATGTCCAGAAAAATATTCTGTATTCCTTTCCATCCTGAGTGTAAGCCATATTGTAGGTCATTCATATGCTCAACCAGAATGTACATTTCACCAATATTGGAGTAGTTGCTAATTCACTTAGTACTCACTTATTATGATCGCACTTATGCCAACATCATGTAAGATATGCTACTTCTATTTTCCCAGTCAAGAATGTAATAAATTCTGAACAAAACCAACCCTGAAAAAGGCAATAGACAGCTGGCAGTGGGGGTGTGGAAGGGAACAACAATTTAAATGCATCATCCTTATTTCTTTTGTTGCACTTTCTCTCTTCAATAGGAAGGGGTCCCGACTAAGCCATAACTAATTCTGTCCTGCGTTTGCATGTATTTTAACTAATGGTTGCCTTATTAAGACCATCTCTTCCACAGACAAGTATATCAGTTATGCGCTCTTGTCATTGTTACAGGAATTATTTAAACTGAGTCCTAACAGTGAAAGTTTTACCTGACTTTTGCTGATTTTTTTTTCTTTCTACATGGGGAGATTTATCTCTGGAGCATCTCTTGTGTTTTTGTATGGTTTGCTTCAGTAGCTAGAGAGGCTACTATCAGGAAGTGAAATGGATCATTTCTAATGGTAGGTCTCCATTGCCTACATGGTATTTCTGAGAGTGGTATCAGGGTGTCCAGTGAAAGACGGATAGGTTGACATGTCATGCTCATTTGGCCTAAAGGTTGTTACTGCCAGGAATGGACTTACAACTTACCAGAATGTGAATGGTGACAAAAGGCAGGTTCTACTCTGGAAAAATATGTGTTATTTTATTAGAAGTTCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTTCATGCAGGTCATGAAGAGTCACAGAGTTTAAAGAATTCTCTGGTTGGGTCATCAATGTTCAGATGTCAAGGGACTGAACATTACCTTCAATTTGAGGGTCTTCTCTTTCCTCTTCTCAGTGATGGAAACTCATCCTTCCTAGGTGGCTAAGTTGACTGTAGAAACTGCTAAAATGTATTTGTCAAACGAAGTAAAATCTGACTATTAATATATATGATCAGGTAGAGTATCTTAGAGTTTGGTTAACTAAGACAGCCGATAATGGGGTCATGTTATTTTCAGACTGGCAGGTCATCTCTAAAGGCAATTTTTAAAGATTAGGGCTAAAATGATTTGTGAGCAAAGAAGTATAATTAAAAATAAGTAATAGTATAGTGACGAGTTCTAAGGTTAATGCTTATATACGCACACACATACAGAATTGTAAAAATATGAGTCTTAGTACCTGTCATTCTTTTACAAAGCCATGGTAAAATCATTTTATTTTCAATGATTAGGTTGGTTTTACTTTAACAAAAGGAACTCCAATGTCACACTTGGGAGTCTTAATCATTTTGGGGCATTAATCATTTTAGGGCATTGGAGGGGCTGGGAAGTAGATATAATGTTAAGATGTTATGCACTCTAGCAAGACTATTATGCTAACAGTTTGAGTTGGGTCATACAATTGTATCATTTCACATCAGCTACTGACTTTGAGTACTGACTTTGAATGCTTATAAAATCTTCCTCAAATCCAGGTAGTGTGCAGGACATGGTATAACAAGACAACGGAAAATTAGCAGAGAGAGCCTTCATTGGAAACCCAGATTGTATTTTTGCCAGTACAACAAATATTATTTTTAAAGTCTCTCACTAATAGGATTGTTCAACATAAATCTATTGAGAAACAATGATGTCAGAGAGTTTTAAAGCTATAGTGAAGTGTGTTAAATTTTGTTAACCAAAATAATGATATGGGTTTTATTGGACGTTTGTCAACCCAACTTAACACACATTGTTATATAATTTCAGTATAGGACCCTAGGGCTAGGGGCAACTAATATTGGATAAAGACCCTTCGTGAGATGCTTTATGTCTCTTATGATGTTATGCTAACATTAGTAGAGATGAAAAAGGAATTGAGTTCGTGAGATCCTGGAAAGTTTAACTTTTATCAAATAGTCAAGAAAAATTCCATTTTATGGCATCTGGTTTTTAAATGGATTATAGAAAAATGTGTGGAAGTACTGGATATTGGCGAAAAAGCCTTGTGGCCAAGGGATCTGGGCACAAGATCGAGCATCACAGAACAGTGAACACAGTTGTTGGCTTCACTACCAATCATCTACGAGGAAACTGGGCCAATTCACTTGACATTTTGATGATTCTCTCTGATAAAAATAGGGATAATGACTGATTACAGAAATGTGCTTTTAAAAAAGCTGAATTTAGTAAAAGCAAGTCATTTGCTACTCAAAATAGCTCCAAAATCTAAGCCATATTTCTATAAATTTCATAAAGTCGTTTTAAAATGTGACTTATAGTTACAGCGTTTATATTACTACATATTTAAGATGGAACTGACCTGATGCCAAAGCTACATCATTTGTAGCTATATTAGCTTTCTCTTTTGTCCTGAAAAAAGGTTGGAGTGTTTTTAAAAATATAGTTTTTAATCTGCACATGGAGCTATATGCAAAGAACATTGTTTCTTCGGGGAATATTTTTAGTCATAGTTTCTTTCATTTATTTTATCAGCAAAAATCTTATGTCAGTTTCAACTAAGGTCTCCTAACTGAACTTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTAAATCCACAGCAATTTTTATTAAATAAAAGCCTAGGTGAGAAAAATAAGTTATATCCTAGCACATGAAACTTAGTCAATAATTTCTTCTAATAATATTTAATTCACTGAAATTTTACAACAAATTTTAAATCGACTACCAAGAGTGGTCAGTCGGGGAAAATTTAGTGTTATCCAATGTATGATGAAATATTCAGCTCTCACAAAAACTGGATGTTTGGCTATTTTAAAATGGCTGTTCTTCACAATAAAACTACAAACAGACACTGTCGAATAAATTGAGTGATAAGTATGTCTATTTACTAACATGAGCCAATTTGAACTTTAGTTTTGAGATCTAAAAATATTTTAATCCACATGCATTTAGTGACTATAAATTGAAGGCAGTGTTCTTTTGACAACCAAGCTTATTGAAAACTTTGGCATTAATGTTCACAAACATGAGCACTATTTTGAAATTAAAAATAGACTATGGTTTGCTCTACATGCTTGTGACCCTGCAAAAAATAAAGGAAAAATATTCATGCTATTTTTCTCCTCTTATATTCTTATGGCTTAAAAAATATAACCAGGGTTTTATCTAATATCAATCTCTTGGCAAAGGATCATATAAGGTTTTACCTGCTAACAAGAATACCTCATTTGAAAGAGCATTACCACAAGCATTGGAGGGAGGTACAGTTGACATGGTGAATTTGATTTTACAAAAACTAACAAAGCTGGGGGGTGGCAAAGCATTGACTTAACTATAATCACTAGTCACACCAATGTGAGATTCCGAATCATTGGTCAGCCACAGTGATGCCACCTTGGCATCAAACTTGCCTGTTCCATCTTTATCAATGTATCTGGAAGTCTGACTTGAGTACCAGAAGCCAAAACGCTCAGAATGCTAATTTGTGCCACCTTAATGGCCCATGTGTTCGGTAAATAAATTTGCTTTTTACATCTCGTCAAATCTTACTGAATAAACCTTTCATCAGAGTTCTACATATCCCCAGGTGGGCTTGGAAACGTGAGATAGGATTTTATTGTGTTTTATATTATGATAGTTGAATGATGATTCTATATGTTATTGTTATATTTGTTTTCATTAAAAACCCAAAGAACTACCCTTTGTATACCAGTAAAGTACTATTTTTTCTTGAAAAAAAGTAATAATAATAATAATTAAGGCAATTCACATAGTTTGTTTTATGCCAGTCTTCTGTTTTAAGTCATGTGATAACATCTCCCCAAACATCAATTTCTCACCCTACATGATATGTGATAAAATCCCCCATATGCCAATAATTTCCCCCACTATAAAATGAAGCTGCTTCCAATATTATTGACTCAGAAATGTAAAATATAGCACAGTTTATCTTGTCTGTGGTCCTGTACTAAGTTAAACTTGCAGCTGTGAACAAATTAATATTTATTTTTATTAGGAATTCTTTAAGATGAATTTTCAGTTTTAGTAAAAGAAAGACACCAGTGATATTTTTATGGATGAAAGCTCTCTGGTTCCTTCAGCAGCTCTAGGAACATCCTTAGCCATTATATCCTCTCTCTTTGACAATATCAAAATTGTCCAGGTAAATGTAATATTGCCAGTGGTGTCAAGACATTGGTCTGTTCATGTCCTTATTCTTCGCTTGGTTTGTGGAATCAAAATGGTTGCTTATTTTCCTCTCTTCTGTAGATAATCCATAGGCAATGTTTTCAATTTGGGAAACTTTTTTTTTCAACTTGGTTTAAGTTTGAAGGCTCTAAGGAAGAGGAATATTAGAACAAATTATGTATTCTCTATGTTCTATTCCACTTGTTTGTAATATACTCCTGTTCTGAGAGTTATGGTAAACCTATATAACACGACTGTTCCAAGTGCCAAGTGAGAATTGTAGTGACTCACAGAACACGTCTCATGACTATTTATCAAAAGAAATGTGCTGATTAAAGAAAAAAAGTAAAATATCTTATTTTCATTCA)$ . 11BR038 ENSG00000274615.1 ENSG00000278845.5 +/+ +/+ chr17:38118441 chr17:38306533 exon/splice-site CDS/splice-site deletion/read-through 37 49 1 740 1349 high . . . . . ENSG00000274615.1 ENSG00000278845.5 ENST00000611212.1 ENST00000613675.5 downstream upstream duplicates(5) ^(GTGAGGCAGGCGACTAATCAGATTGTGATGAATTGTGCTGATATTGATATTATTACAGCTTCATATGCACCAGAAGGAGATGAAG___AAATACATGCTACAGGATTTAACTATCAGAATGAAGATGAAAAAGTCACCTTGTCTTTCCCTAGTACTCTGCAAACAG___GTACAGGAACCTTAAAGATAGATTTTGTTGGAGAGCTGAATGACAAAATGAAAGGTTTCTATAGAA___GCTACTGATGCCCGAAGGGCTTTTCCTTGCTGGGATGAGCCTGCTATCAAAGCAACTTTTGATATCTCATTGGTTGTTCCTAAAGACAGAGTAGCTTTATCAAACATG___AATGTAATTGACCGGAAACCATACCCTGATGATGAAAATTTAGTGGAAGTGAAGTTTGCCCGCACACCTGTTACATCTACATATCTGGTGGCATTTGTTGTGGGTGAATATGACTTTGTAGAAACAAGGTCAAAAGATGGTGTGTGTGTCTGTGTTTACACTCCTGTTGGCAAAGCAGAACAAGGAAAATTTGCATTAGAGGTAAATGTACTTGAAGAGGATT)GTTCCAGCAGTCCATAACTCCAG___GTTGCTGCTAAAACCTTGCCTTTTTATAAGGACTACTTCAATGTTCCTTATCCTCTACCTAAAATTGATCTCATTGCTATTGCAGACTTTGCAGCTG___GTGCCATGGAGAACTGGGACCTTGTTACTTATAG|AATCCGGAGGATAAAAGACTATGATGCCAACTTTAAAATAAAGGACTTCCCTGAAAAAGCTAAGGATATCTTTATTGAAGCTCACCTTTGTCTAAATAA___CTCAGACCATGACCGaCTTCATACCTTGGTAACTGAACACTGTTTTCCA___GACATGACTTGGGACATCAAATATAAGACCGTCCGCTGGAGCTTTGTGGAATCTTTAGAGCCCTCTCATGTTGTTCAAGTTCGCTGTTCAAGTATGATGAACCAGGGCAACGTGTACGGCCAGATCACCGTACGCATGCACACCC(GGCAG___ACTCTGGCCATCTATGACCGGTTTGGCCGGTTGATGTATGGACAGGAAGATGTACCCAAGGATGTCCTGGAGTATGTTGTATTCGAAAAGCAGTTGACAAACCCCTATGGAAGCTGGAGAATGCATACCAAGATCGTTCCCCCATGGGCACCCCCTAAGCAGCCCATCCTTAAG___ACGGTGATGATCCCTGGCCCTCAGCTGAAACCAGAAGAAGAATATGAAGAGGCACAAGGAGAGGCCCAGAAGCCTCAGCTAGCCTGATGACAAAAATGACTTCTAGGGTGAAGCCTGGGTGATGAGGCTGCTGGAAGCTTTGAAGTCTCCCATTCCCCTCATGCTATAAAAAGAACTACCTTTGTTCTCTCCCATCCTGCTCAGGTCTTTTCAGCAGTCTCATCATCAGCAACCATGACTGATGACTGGGCCCTAGCAGGTGGCAGGTATAACATGGCCATGGACACTCTTCTTTTTTAAATTTTATGTCTAGCTTCTGAGTCTAGATGAAAGACAGTATGTTTCAGAGAACATTGGATATCAGTTTTTCCCACAGCAGGGACTGTGAGAGACAACCAGCAGCATCCTCTTTGTAATCACAGGGCAGGGATCAGAGTTTGAAATGAAATGTTGTCAGGGTGTTGGAAAAATTTTGGTGAGTTCTGCACATTTCCCCTGGTTCAGGCTGGGCATGGACCAGCCTTCAGATGGCAGAAGTGGAAGATGAGCCTACTTGTGAGCGATGTGACTTTAAGGAAATGAAGACTGGGGAAGAATAATTAGTGTTTATAAGACATTTAAGAGGCCCTTTTTCATATACTGACTCACTGATGAATCAGCATTTGCATTTTATGGAAAAATATAAATCCAAAGAAATAATTTA)$ . 11BR038 ENSG00000108344.15 ENSG00000167916.5 +/+ -/+ chr17:39984484 chr17:40701564 CDS/splice-site intron deletion/5'-5' 35 47 0 482 153 high out-of-frame . . . . ENSG00000108344.15 ENSG00000167916.5 ENST00000264639.9 . downstream upstream duplicates(7),mismatches(1) ^(AGAAGGCCCAGCGCCGGGAAGGGGTTTGCAGCTGCTCCGTCATCGTGCGGCCCGACGCTATCTCGCGCTCGTGTGCAGGCCCGGCTCGGCTCCTGGTCCCCGGTGCGAGGGTTAACGCGAGGCCCCGGCCTCGGTCCCCGGACTAGGCCGTGACCCCGGGTGCCATGAAGCAGGAGGGCTCGGCGCGGCGCCGCGGCGCGGACAAGGCGAAACCGCCGCCCGGCGGAGGAGAACAAGAACCCCCACCGCCGCCGGCCCCCCAGGATGTGGAGATGAAAGAGGAGGCAGCGACGGGTGGCGGGTCGACGGGGGAGGCAGACGGCAAGACGGCGGCGG)CAGCGGCTGAGCACTCCCAGCGAGAGCTGGACACAGTCACCTTGGAGG___ACATCAAGGAGCACGTGAAACAGCTAGAGAAAGCGGTTTCAGGCAAGGAGCCGAGATTCGTGCTGCGGGCCCTGCGGATGCTGCCTTCCACATCACGCCGCCTCAACCACTATGTTCTGTATAAGGCTGTGCAGGGCTTCTTCACTTCAAATAATGCCACTCGAGACTTTTTGCTCCCCTTCCTGGAAGAG|CTGTTGTAGGCTGATGAAAGGAGCAGAAGCGGCCGGTGTGTAGCTACTGGCTTAGGTGCTCAGCAGAGAGGATCTACCTGCCCCAGCATCAGTGGAGATTTGTCTAATGGTCTAAAGTTTACCCTTGGGATGTTTGTAAATTTAGGTCATGATCC MKQEGSARRRGADKAKPPPGGGEQEPPPPPAPQDVEMKEEAATGGGSTGEADGKTAAAAAEHSQRELDTVTLEDIKEHVKQLEKAVSGKEPRFVLRALRMLPSTSRRLNHYVLYKAVQGFFTSNNATRDFLLPFLEE|ll* 11BR038 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 19 0 38 42 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismappers(1),mismatches(1) CACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAG(AGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR038 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 18 8 0 154 66 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAA)GCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR038 ENSG00000257923.11 ENSG00000213265.8 +/+ -/- chr7:101916225 chr7:130686543 CDS/splice-site 5'UTR/splice-site inversion 12 8 0 81 25 high out-of-frame . . . . ENSG00000257923.11 ENSG00000213265.8 ENST00000437600.9 ENST00000456951.5 downstream downstream duplicates(2) ^(CTCGGTGGCGGCGGCGGCGGCCGGCTCCAGGCCGGGTTTTGGCGCCGCCCGCCTGCTGCCTCCT)GGCGGCTCCTGAACTCCAGCCCCCTCTCTATCAGCCGCTCACTCCGTCTCAATATGTCTCAAGATGGCGGCCAATGTGGGATCGATGTTTCAATATTGGAAGCGCTTTGATTTACAGCAGCTGCAG___AGAGAACTCGATGCCACCGCAACGGTATTGGCGAACCGGCAGGATGAAAGTGAGCAGTCCAGAAAGCGGCTTATCGAACAGAGCCGGGAGTTCAAGAAGAACACTCCAGAG|AATCCAGAAAAGAATAATTACGATATTTTCAAAATGGAAAGTTCCCATGCCAAAGAgTTTGCCTTCTTCACCAAACTATGATTTCGTGATGTTCTTAAAG___GCTCAAGAATGGGGCATGAGTACACACTGTGTGCTAAGGAAAGAATATTTGGATTGAATTGAACCCCTGCAGAACGTGGACTATTTAGAGACCTGAATTTGGCCTTGGGTGAATACCTGCCTTGGGTTGGCCAACTAGCAGTCAACAGC(AATGAGCCAAAAGAGACAAACCAA___GTTTCAAAATGGCAAATCAAAGACTTCAGAAAATAGCTCAGCTAAACGTGAGAAAGGAATGGTTGTCAATAGCAAAGAG___ATTTCTGATGCAGTCGGGCAATCAAAATTTGTTCTAGAGAACCTTCGGCATTACACAGTCCATCCAAATTTG___GCCCAGTACTATAAGCCTTTGAAGGCCACTGCCCTGCAGAAATTCCTGGCTCAAAACAGGAAAAACACCAGCTTCATGTTAAAAGTAACACAGTATGACCAGGATAAGACGTTACTGATTATGACCAACAACCCACCTCCCTGCTCAATCACCCAGCAAGACAAGGAGAGTGCATCAAAATATTTTTCCAAGGAGTTACTGCTCAAGGTCATG___GAAAGTCATCATCAGCACAAACCCACTGAGAACCTCTGGCTGCCCCGCATGCCTCAGAAAAAAAAGTTAAGATCTAAGCTGAAACCAATCTTCCCTTTGATACTGTCGGATGATCCCACATCCAAGCGAGAACAATGGTTTAG___GTTTTCCACTGACAATGATTTCAAGAGCGAAGGGAAGTATTCAAAAGTCTACGCTTTGAGGACACAGAAGAAAATGTACCCTCAGCTCACCTTTGCTCCAGTCCATGAGAGAGATATGAGGAAAGATG___CTTCCAAGAAGTCAGCGAGTGAAAGGCCAATTTCCAAAGTGATTCGGGAACCACTGACACTCGCATCGCTCTTGGAAGACATGCCCACCAGAACCGCGCCCGGGGAGAGCGCCTTCCGCAACGGGAGGGCCCCGCAGTGGATTATCAAAAAGGCCACGGTCATCGGGTGAACACAGACCCCTCAGTCCTCCCGCCTCGCTCTCTTGAGACTGAGGGGTCCGCAGAAGTCGCCACCCAAATAAAACCACATTCCTGCTGCTGCGGGCGTGGGCTCCCGGGTCGCAAGCCGGGAGGGTCGAGCCGAAGTCTCCGGCGGGCCGCAAGAGGAGAAGGGGGCGTGGCTGCGTCCCGGGGGCCGAGGGCGGCCGGGGAGGGCGGGCCTTGGCCCCGAGTGAAGGCGCGGCGGCCCAACCGGCGTGAGAGCGCGGGGCCGGCCTTCCTGCAGCCTCTTCCGCTCGCCGGCTGCGGCGCCTGGGACGGTTGCGGTGGGTCTGGGCGCTGGGAAGTCGTCCAAGATGATTAAAAAATTCGACAAG)$ MAANVGSMFQYWKRFDLQQLQRELDATATVLANRQDESEQSRKRLIEQSREFKKNTPE|npeknnydifkmesshakefafftkl* 11BR038 ENSG00000078319.9 ENSG00000106554.13 -/- -/- chr7:100335838 chr7:132785660 exon/splice-site CDS/splice-site duplication 12 6 0 106 292 high . . . . . ENSG00000078319.9 ENSG00000106554.13 ENST00000431037.2 ENST00000262570.10 upstream downstream duplicates(1) ^(ATGGTGACAATGTGTGGAGGACATAGGCCAGAGAATTTTCTTCACCAAGTCTTGACAGAATTTGGTGAAGAACTAGCTGGAGAAGGCAAGAGTG___GTGGGCGGGGGGGCCCCGCGCTCCTACCTGCAAGTGGCCAGTGCCGAGTGCTGGGCCGCCGCTCCTGCCGTGCATGTTGGGGAGCCAGTACATGCAGGTGGGCTCCACACGGAGAGGGGCGCCGACCCCGTGATAGGGCTTTACCTGGTACATCGGGGTGGCGCGTGCCAGACACCAACGGTCGGAAACCGCCAGACACCAACGCTCGGAATCCACGCCAGGCCACGACGGAGGGCGACTACCTCCCTTCTGACCCTGCTGCTGGCGTTCGGAAAAAACGCAGTCCGGTGTGCTCTGATTGGTCCAGGCTCTTTGACGTCACGGACTCGACCTTTGACAGAGCCACTAGGCGAAAAGGAGAGACGGGAAGTATTTTTTCCGCCCCGCC)CGGAAAGGGTGGAGCACAACGTCGAAAGCAGCCGTTGGGAGCCCAGGAGGCGGGGCGCCTGTGGGAGCCGTGGAGGGAACTTTCCCAGTCCCCGAGGCGGATCCGGTGTTGCATCCTTGGAGCGAGCTGAGAGCTCGAG|AGCATGCTTGAGAAGGGAGGATAAAAACTTTCAGAATGAGCAAAACACCATCAACGTTAATTCCAGAGATGGAACATTTTTTTTCCTAGTGAGAAAACAACCCATTTGAAGAGAAGACCACTAATGAGAAGACCACTAAAGAGAGACATCAAGAATGGATTCAGCAGAATCATTTCACGTTTTGAACAGCAGCAGTTTGAAGGGCC(AAAGCCTTGATCAGGGATCAGTCATTAAAGGACACTCTTGAGTATTAGTAAACCCTCTTATGATGATTAAAAGAGAAGGGCAGCCCTCTCCACCTTTTGGTACTTTCTATTCAACTTGCACTGACCATAAAATGTTTCTCTTCTGAACAAGCCCCATCATTTGGTGAACCTCCACCCTAACAAAGTAGGATGGGGTTGGGGGCTAAATTAATTGGAGTGGGGCGAGGAGAGAGCCAGAAAACATAGATCCGAGGGCAGCAGTGCTGGGTGGAGAGAGCCAGAAAACAGATCTGGAGGCAGCAGTGCTGGATGGAATTGTCTAGGCTGTGGCATGTTGGTTTTGTCTTTCTTTTCTCCTTTGATTATGTAAGAGCTATTTCATTATAACTTATTATGGTGATTATACAGGCAAGAAGACAAAAAGGAGAGAAAATGTACCTCTTCTACTGGAATAATGTTTATGATTACAAGTGAGATAAGGTATTTTTATCAATATGAAGGCAACCTTGGCTGATAAAACCTCTATAGTGAATACTCACATCTTTACTTCACTCACTATCAATAATAAATATATTTTCTGACAAA)$ . 11BR038 ENSG00000078319.9 ENSG00000106554.13 -/- -/+ chr7:100335838 chr7:132807933 exon/splice-site intron inversion/5'-5' 2 1 0 106 6 high . . . . . ENSG00000078319.9 ENSG00000106554.13 ENST00000431037.2 . upstream upstream . ^(ATGGTGACAATGTGTGGAGGACATAGGCCAGAGAATTTTCTTCACCAAGTCTTGACAGAATTTGGTGAAGAACTAGCTGGAGAAGGCAAGAGTG___GTGGGCGGGGGGGCCCCGCGCTCCTACCTGCAAGTGGCCAGTGCCGAGTGCTGGGCCGCCGCTCCTGCCGTGCATGTTGGGGAGCCAGTACATGCAGGTGGGCTCCACACGGAGAGGGGCGCCGACCCCGTGATAGGGCTTTACCTGGTACATCGGGGTGGCGCGTGCCAGACACCAACGGTCGGAAACCGCCAGACACCAACGCTCGGAATCCACGCCAGGCCACGACGGAGGGCGACTACCTCCCTTCTGACCCTGCTGCTGGCGTTCGGAAAAAACGCAGTCCGGTGTGCTCTGATTGGTCCAGGCTCTTTGACGTCACGGACTCGACCTTTGACAGAGCCACTAGGCGAAAAGGAGAGACGGGAAGTATTTTTTCCGCCCCGCCCGGAAAGGGTGGAGCACAAC)GTCGAAAGCAGCCGTTGGGAGCCCAGGAGGCGGGGCGCCTGTGGGAGCCGTGGAGGGAACTTTCCCAGTCCCCGAGGCGGATCCGGTGTTGCATCCTTGGAGCGAGCTGAGAGCTCGAG|ATGCCTGGGCACCACAATTCCTAATGGTGATGCCATTTCCACACGTTTTGTGGCACTAAATAGAAAACTGATTGAAAACTTAAAGACGAC . 11BR038 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 10 6 2 52 56 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___G)GGTCATTGTCAaTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSiEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR038 ENSG00000161405.17 ENSG00000224244.1(5513),ENSG00000167916.5(3118) -/- ./- chr17:39777651 chr17:40694873 CDS/splice-site intergenic duplication 10 6 1 52 26 high out-of-frame . C2H2-type_zinc_finger(100%),Zinc_finger__C2H2_type(100%)| . . ENSG00000161405.17 . ENST00000346872.8 . upstream downstream . ^(AACCCCGCGCACCGGCAGGTCGCCGGCTCCTGCCCTTTTCAGTCTGCGCCGACGCGGCTGCCGGATCCCGGGGACTCCCCGCGCCGGGAATCTCCCGCCAGCTGCGCGCTGAGTCCAGGCGACGGCAGGAGCACGTGGAGAGGCCGAGTAGCCACAGCGGCAGCTCCAGCCCGGCCCGGCAGCGACATGGAAG___ATATACAAACAAATGCGGAACTGAAAAGCACTCAGGAGCAGTCTGTGCCCGCAG___AAAGTGCAGCGGTTTTGAATGACTACAGTTTAACCAAATCTCATGAAATGGAAAATGTGGACAGTGGAGAAGGCCCAGCCAATGAAGATGAAGACATAGGAG___ATGATTCAATGAAAGTGAAAGATGAATACAGTGAAAGAGATGAGAATGTTTTAAAGTCAGAACCCATGGGAAATGCAGAAGAGCCTGAAATCCCTTACAGCTATTCAAGAGAATATAATGAATATGAAAACATTAAGTTGGAGAGACATGTTGTCTCATTCGATAGTAGCAGGCCAACCAGTGGAAAGATGAACTGCGATGTGTGTGGATTATCCTGCATCAGCTTCAATGTCTTAATGGTTCATAAGCGAAGCCATACTG___GTGAACGCCCATTCCAGTGTAATCAGTGTGGGGCATCTTTTACTCAGAAAGGTAACCTCCTCCGCCACATTAAACTGCACACAGGGGAAAAACCTTTTAAGTGTCACCTCTGCAACTATGCATGCCAAAGAAGAGATGCGCTCACGGGGCATCTTAGGACACATTCTG___TGGAGAAACCCTACAAATGTGAGTTTTGTGGAAGGAGTTACAAGCAGAGAAGTTCCCT)TGAGGAGCACAAGGAGCGCTGCCGTACATTTCTTCAGAGCACTGACCCAGGGGACACTG___CAAGTGCGGAGGCAAGACACATCAAAGCAGAGATGGGAAGTGAAAGAGCTCTCGTACTGGACAGATTAGCAAGCAATGTGGCAAAACGAAAAAGCTCAATGCCTCAGAAATTCATTG|GGAAGTATACACAAGAATGATGAGAATGGTCGACGTGGCATCCATCCTCACAGAGATGACAAACAAGAAACAAGGTTCACAGCAGGCAGCTCAGAGTAAACGGCTAAAGTATTTGAAGCTCTAAGGAAAGTGGCCTAAACTGGCTTGACGACTTCGTGGAATTAGACAGTGTTCACCCAGGAGGAGACAAACTGGTGAATATAAATCACCCAAAATGAAGCTCAAGTAATATTATCC MEDIQTNAELKSTQEQSVPAESAAVLNDYSLTKSHEMENVDSGEGPANEDEDIGDDSMKVKDEYSERDENVLKSEPMGNAEEPEIPYSYSREYNEYENIKLERHVVSFDSSRPTSGKMNCDVCGLSCISFNVLMVHKRSHTGERPFQCNQCGASFTQKGNLLRHIKLHTGEKPFKCHLCNYACQRRDALTGHLRTHSVEKPYKCEFCGRSYKQRSSLEEHKERCRTFLQSTDPGDTASAEARHIKAEMGSERALVLDRLASNVAKRKSSMPQKFI|gkytqe* 11BR038 ENSG00000141425.18 ENSG00000075643.6 -/- +/+ chr18:36067254 chr18:36203113 CDS/splice-site CDS/splice-site inversion 4 9 0 94 31 high out-of-frame . |Aminotransferase_class-V(100%),MOSC_N-terminal_beta_barrel_domain(100%),MOSC_domain(100%) . . ENSG00000141425.18 ENSG00000075643.6 ENST00000399022.9 ENST00000261326.6 upstream upstream . ^(ATCTTGCTGGTTTGCGGCCGGTCTTGGATGAAGCGGCGGCCGTGGTGAGAGCGTGGGGAAGGGTGGGGTGAGGGGGCGAGGCCGCAGCTAGGGCGGCGAAACTCTCCTCCCCTCGGCCCCACCGCGTGGGACGGCGTGAACGTGGTGTCGGAGGGATGTCAGCCTTCTCTGAGGCGGCGCTGGAGAAG)AAGCTGTCGGAGTTGAGCAACTCGCAGCAGAGCGTGCAGACCTTGTCCCTGTGGCTCATTCACCACCGTAAACACTCGCGgCCCATCGTCACCGTGTGGGAGCGGGAGCTGCGGAAAG|GTTTGAAGATGGCACCATCTCATTCCTTGATGTTATCGCGCTAAAACATGGATTTGACACCCTAGAGCGCCTCACAG___GTGGAATGGAGAATATAAAGCAGCACACCTTCACCTTGGCTCAGTATACCTACaTGGCCCTGTCCTCTCTCCAGTACCCCAATGGAGCCCCTGTGGTGCGGATTTACAGCGATTCTGAGTTCAGCAGCCCTGAGGTTCAGG(GCCCAATCATCAATTTTAATGTGCTGGATGACAAAGGGAACATCATTGGTTACTCCCAG___GTGGACAAAATGGCCAGTCTTTACAACATCCACCTGCGAACTGGCTGCTTCTGTAACACTGGGGCCTGCCAGAGGCACCTGGGCATAAGCAACGAGATGGTCAGGAAGCATTTTCAG___GCTGGTCATGTCTGTGGGGACAATATGGACCTCATAGATGGGCAGCCCACAGGATCTGTGAGGATTTCATTTGGATACATGTCGACGCTGGATGATGTCCAGGCCTTTCTTAGGTTCATCATAGACACTCGCCTGCACTCATCAGGGGACTGGCCTGTCCCTCAGGCCCATGCTGACACCGGGGAGACTGGAGCCCCATCAGCAGACAGCCAGGCTGATGTTATACCTGCTGTCATGGGCAGACGTAGCCTCTCGCCTCAGGAAGATGCCCTCACAGGCTCCAGGGTTTGGAACAACTCGTCTACTGTGAATGCTGTGCCTGTGGCCCCACCTGTGTGTGATGTCGCCAGAACCCAGCCGACTCCTTCAGAGAAAGCTGCAGGAGTCCTGGAGGGGGCCCTTGGGCCACATGTTGTCACTAACCTTTATCTCTATCCAATCAAATCCTGTGCTGCATTTGAG___GTGACCAGGTGGCCTGTAGGAAACCAAGGGCTGCTATATGACCGGAGCTGGATGGTTGTGAATCACAATGGTGTTTGCCTGAGTCAGAAGCAGGAACCCCGGCTCTGCCTGATCCAGCCCTTCATCGACTTGCGGCAAAGGATCATGGTCATCAAAGCCAAAG___GGATGGAGCCTATAGAGGTGCCTCTTGAGGAAAATAGTGAACGGACTCAGATTCGCCAAAGCAGGGTCTGTGCTGACAG___AGTAAGTACTTATGATTGTGGAGAAAAAATTTCAAGCTGGTTGTCAACATTTTTTGGCCGTCCTTGTCATTTGATCAAACAAAGTTCAAACTCTCAAAGGAATGCAAAGAAGAAACATGGAAAAG___ATCAACTTCCTGGTACAATGGCCACCCTTTCTCTGGTGAATGAGGCACAGTATCTGCTGATCAACACATCCAGTATTTTGGAACTTCACCGGCAACTAAACACCAG___TGATGAGAATGGAAAGGAGGAATTATTCTCACTGAAGGATCTCAGCTTGCGTTTTCGTGCCAATATTATTATCAATGGAAAAAGGGCTTTTGAAGAAGAGAAATGGGATGAGATTTCAATTGGCTCTTTGCGTTTCCAG___GTTTTGGGGCCTTGTCACAGATGCCAGATGATTTGCATCGACCAGCAAACTGGGCAACGAAACCAGCATGTTTTCCAAAAACTTTCTGAGAGTCGTGAAACAAAG___GTGAACTTTGGCATGTACCTGATGCATGCATCATTGGATTTATCCTCCCCATGTTTCCTGTCTGTAGGATCTCAGGTGCTCCCTGTGTTGAAAGAGAATGTGGAAGGTCATGATTTACCTGCATCTGAGAAACACCAGGATGTTACCTCCTAAAAAAAATTTTTAGCATAAAGTTTCTCTTTTACAGTGATCTCTATTATTGTTAAGATCTGCAACTTGGTTCAGTAGAACTTGATGTTTTGAATAAGGAGAGCTCTTTTTCTTTAGAGGCAGGGAATGCTCTCACCTGCTTCCTTCTGCCTTTGACTTCTCACCCTGCAAATTTGCACTGGCTGTGCTCAGGAGAGCACTTCTGAGGCCTCAGGAACGAATGCTGCACCCACATCCAGTGAGGCTCCTGTAGGTATTTGAAGTATAATCACTTGTAATCAGATGAAATTTTTAATGAAGTTCACTGGGAAGATTGAACTTACTGCGGGTCCCTATTTTGCCATTTTCTCACATTGTTACTTTGTTTTTAGAGAGCATCTTTGGATCTCTCCAACCCGTTTGTAGTGAGGAAGGGAGTCTATGCCCAGTGATCCTGGGTATGAGAAGGTGCTCCTCTCCTCCCATGTACATGATGGTGTGGGTTTATGCTCAGGGGCCCAGAGGGTAACTTGTGACCACATTCCTTGAGGGGAGTTTCTACCAGAATATTTATATTCTGAGCAAAGGCACAGGCCAGCAATTCCTTTCCTGTTGCTTCCCATCCCTGGCCTCCGTCCTCATCCCCCACTGAGTTGATGCACTGAGGATGGCTCACGAGCCTGAAGTTACACTCAGTGATGGCTGTGCTTATGCAGGTTGTCATCCTCCCCTCCACAAGCCCACAGGATGGTGTTGGTCCATCACCCGAGAGCCTCCAAATCCTATCGAGGGAGGAACTTTGGCATTCAGGAATCCTGTCTGTATCATCTTTGACCACTGCTCCTGCAGCCTCCAGATGAAAATGTCCAGTGAGGAAATCTCATTCTCTAATGAAGTTACCCATCCCGCTGAGTTTCTAAGAAGTTTCTCCCTGTGCGGAGCTTGTGTGTGCCTTATCTGCTTCTGCATGACTTCCAGCCTGGGGTCTTACCCTGTCCTCTGGAGCAATGCAGAGTGAGTACATCCACTCCACATTCATTCTGCTGGCGTCCTTCTGAAGCCTGCTGTCCATGTGTGAACCCAGTCCCTTCATCATCTTCCCCCTGGATGGTTGTATTTTTCCAGTCACTTCTCCCCCAAATGTCTGCCTGCTGCAGCCCACTGCATCTTTTGAAAGCCTGTGCCACCCCATCTCTCCTGCTGCTCAGTTGGAGAGCAGGCTCCAGGCTCAGGCTTCCCTAATGTATCTGTTCAGAGCCTGTGGGATTCAGGGTCAGTTTGTTTCATTATCACATTTGTAGGACTTTGTGTTGTTCCCAGCACTAGGTGAGATTTGAAAGATGAGGTGTGCTCTGTTCTCAAGGATTGTTGAGATGGAGCCTAATGATTGCACACTCACGTGCTGTGAAGAGTTAAGGGTAAAAAGTACAACTCTGACTCTGGTTCCTGAGATCACCGAAAGAAGAGGCAAATGAAGTTAGGTGGGGTGGGGTGGGGTTTATTGTTTTGAACTGTTTATTAAAAACGCAACCTCTTCAAAGACTCAGCACTGCCACATCATATGAGTGGACTTGTCCTCATCAGCTAACTGATAGGAGAACAATGCCCTAAAGTAATGGATTTATCCACCTACTCAGGCCAGTTTCATGCAGGAGGGAACTTTCCAGATGGCACATTGCCCCATTTCCAAGACCTTCCGCTGACAAATGCATCATATTAATTATGATGGAAAACAAGTAAGAAGGCATGCTCTACAAAAATTAGGTCACTTGCCCAGGTGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCTGACGTGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCTGGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACACCGGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGGTCACTTTTGTCATCAAGAATATGTTTTTCTTATCCACGTCTATGTCACCTTTTGCAGTAGATACTTTCATGACTGATTTCAGGCTTTTTGTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCACAGATCATTGCAGCCTTGACCTCTTGGGCTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACATCACCACATCCAGCTAATTTTTTTTTTCTTTTTTTTCTTTTTGGTAGAGATGGCATCTCACTTTGTTGCCCAGGCTAGTTTTGAATTCCTGGGCTCAAGCCATCCTCCCGCCACAGCCTCCCAAAGTTCTGGGATTACAAGTGTGAGCCACTGTGCCCAGCTTTTGATTTCAGACATTTTAATGCAGATCCTCTCCTTTACAGCACTATTATTTGGTTATCTACTTATAATTACTGATTTAACATTGATCTGTTTTCACTAGACTGTAAGCTCCATGAGGACAAGTCCTGTGCCAGTATATCTCTAGTGTCAGCAGACAATACTCAAAATTTGTTGACAGACTATTTAAAGCTGCCCCTATTTTTATCATTAATTGATTGAATATTAATTAAATATATTTTATTAATTTAAAATGAATTTTAAATGCATTTTTTCTTTAGTGTCTACCTTCAATATTTCTTGTATGAAGTTTCAGCTAAAAATGTACTTTGTGTATCTGTAGAGTGGCTTCATATTCAGAGTTTATGGACATTTATGATTTTATGTCCCCTCCTTGGTTCTTATCTCCTGGAGTTCAGCCTTATGTGCTTCTCAAAGTGTATAACAAAATCAAAGACAATGTCATGTCCCTTGAATTTAATTCTAACACCAAACCTTGGTGTTAGAGTCACAAAAAGTCCTTTTTTAAAAAAACTTGGTGAGAACAGACAATAACTTGTCTTTCTGGGCATTCGCGTCATGGTCCTTTTAGCCAGAAGAGAGGTTTTCTTTTGCATAGTTTGGTGAGCATCAAGAATCCTTTAAGGAGGGTGGCGGTGCTGACTTCTCCCCATTGAGAGTCAGCCTCATCCCCTCCTCAGCCTTGTGGATGGAGAAGAACAGGCAGTGATATACATTTTCTGCTGTTGAAAGATGTCCGCTTATCCTTCTCTTTCAGTGAAAAGTTGCTTTTTTATTCAATATGTACTGAACAGGTTCTAGAGTTTCAGAAACAAAAGAAACAGAACCAACATTTATAGATCTCACTATAGAGGCATCACTAATTGGGGAAAGACAGACTAGGTAATAGTCAGATGTGATATAGTATGTTTAAGCTATAGGATGGCAGGTGCATGAGTGTTGGTTGTATTATTCTTTATTTTTTTGTATGACTTATGATATTCATGATAATTAAAACGTTTTGGAACAATTCA)$ MSAFSEAALEKKLSELSNSQQSVQTLSLWLIHHRKHSRPIVTVWERELRK|glkmapshslmlsr* 11BR038 ENSG00000173065.13 ENSG00000171532.5 -/- -/- chr17:28812209 chr17:39608065 5'UTR/splice-site intron duplication 0 11 1 78 38 high . . |Helix-loop-helix_DNA-binding_domain(100%),Neuronal_helix-loop-helix_transcription_factor_(100%) . . ENSG00000173065.13 ENSG00000171532.5 ENST00000452648.7 ENST00000302584.5 upstream downstream . ^(AGCCGGCTGGGGGAGGGGGTGTCGGCGCACCGCGGAGTCCTGCGCTCCGTGAGCCTGGCACCCGGAGCAGCC)GCCTCCCCCTCCCCCTGCCTAGACCGCTAGAAGCCCCCTCTCTTCCATCCTCCCGGGGCGGGGGTGAGCTGGGCTCAGCTGCCCAAGGCGGGCGGGGCGGAGCCAGGAGCCCCACGGAGCGCTGCGGAGCGAACCTCACCTTTCCAGGGCGCAAG|AGAGTGACAGATGGCGGCGGGTCCCGGGGGAGCCGGCTCTCCCCCAGTGCAGACGCATGCCAATCACCGTCTCTCATGTGATAGCTGCTGCCCGTGACGTGCCAAGCCCATATGGCCTGGCATAGAGGCTGGTACCCCGCCTGGTAGAGATGCCACACTCGCTCCGCGGTTCGCATGGCGCTCTGAAGACGCCGGCGCCCGCCGCCTTGAaGAGCC(GCTGCCCCCGCTCCCTGAAGATGGGGGAACAATGAAATAAGCGAGAAGATCCCTCTTCTCCCCCCTCTCTCTCTTGCCCCCTCCCCCCCTCCCCTCCCCTCTCCCCTTGACTCCTCTCCGAG___GCACCATGCTGACCCGCCTGTTCAGCGAGCCCGGCCTTCTCTCGGACGTGCCCAAGTTCGCCAGCTGGGGCGACGGCGAAGACGACGAGCCGAGGAGCGACAAGGGCGACGCGCCGCCACCGCCACCGCCTGCGCCCGGGCCAGGGGCTCCGGGGCCAGCCCGGGCGGCCAAGCCAGTCCCTCTCCGTGGAGAAGAGGGGACGGAGGCCACGTTGGCCGAGGTCAAGGAGGAAGGCGAGCTGGGGGGAGAGGAGGAGGAGGAAGAGGAGGAGGAAGAAGGACTGGACGAGGCGGAGGGCGAGCGGCCCAAGAAGCGCGGGCCCAAGAAGCGCAAGATGACCAAGGCGCGCTTGGAGCGCTCCAAGCTTCGGCGGCAGAAGGCGAACGCGCGGGAGCGCAACCGCATGCACGACCTGAACGCAGCCCTGGACAACCTGCGCAAGGTGGTGCCCTGCTACTCCAAGACGCAGAAGCTGTCCAAGATCGAGACGCTGCGCCTAGCCAAGAACTATATCTGGGCGCTCTCGGAGATCCTGCGCTCCGGCAAGCGGCCAGACCTAGTGTCCTACGTGCAGACTCTGTGCAAGGGTCTGTCGCAGCCCACCACCAATCTGGTGGCCGGCTGTCTGCAGCTCAACTCTCGCAACTTCCTCACGGAGCAAGGCGCCGACGGTGCCGGCCGCTTCCACGGCTCGGGCGGCCCGTTCGCCATGCACCCCTACCCGTACCCGTGCTCGCGCCTGGCGGGCGCACAGTGCCAGGCGGCCGGCGGCCTGGGCGGCGGCGCGGCGCACGCCCTGCGGACCCACGGCTACTGCGCCGCCTACGAGACGCTGTATGCGGCGGCAGGCGGTGGCGGCGCGAGCCCGGACTACAACAGCTCCGAGTACGAGGGCCCGCTCAGCCCCCCGCTCTGTCTCAATGGCAACTTCTCACTCAAGCAGGACTCCTCGCCCGACCACGAGAAAAGCTACCACTACTCTATGCACTACTCGGCGCTGCCCGGTTCGCGGCCCACGGGCCACGGGCTAGTCTTCGGCTCGTCGGCTGTGCGCGGGGGCGTCCACTCGGAGAATCTCTTGTCTTACGATATGCACCTTCACCACGACCGGGGCCCCATGTACGAGGAGCTCAATGCGTTTTTTCATAACTGAGACTTCGCGCCGGCTCCCTTCTTTTTCTTTTGCCTTTGCCCGCCCCCCTGTCCCCAGCCCCCAGAGCGCAGGGACACCCCCATCCTACCCCGGCGCCGGGCGCGGGGAGCGGGCCACCGGTCCTGCCGCTCTCCTGGGGCAGCGCAGTCCTGTTACCTGTGGGTGGCCTGTCCCAGGGGCCTCGCTTCCCCCAGGGGACTCGCCTTCTCTCTCCCCAAGGGGTTCCCTCCTCCTCTCTCCCAAGGAGTGCTTCTCCAGGGACCTCTCTCCGGGGGCTCCCTGGAGGCACCCCTCCCCCATTCCCAATATCTTCGCTGAGGTTTCCTCCTCCCCCTCCTCCCTGCAGGCCCAAGGCGTTGGTAAGGGGGCAGCTGAGCAATGGAACGCGTTTCCCCCTCTCATTATTATTTTAAAAACAGACACCCAGCTGCCGAGGCAAAAAGGAGCCAGGCGCTCCCTCTTTCTTGAAGAGGGTAGAAGTTAGGGCGCCGGAGCCCGGGCCTGGAACGCCCTCACCCCCAACCTCCAGTCTCCGCGTTTTGCGATTTTAATTTTGGCGGGAGGGGAAGTGGATTGAGAGGAAAGAGAGAGGCCAAGACAATTTGTAACTAGAATCCGTTTTTCCCTTTTCCTTTTTTTAAACAAACAAACATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTAAGAGGCGACGGAAGCCGAACGCAGAGTCCGGATCGGAGAGAAAACGCAGTAAGGACTTTTAGAAGCAATAAAAGGCAAAAAAAACAAAAAACAAAAAAACAAACAAAAAAAAACCACTACTACCAATAATCAAAGACACAAATATCTATGCAAGGAGGCTCCACTGAGCCTCGCGGCCCGGCCCGGCCCCGGGATGCCCCGCCCGGCCTGCGGGCCGCCCCGCCCGAGCGCGGATCTGTGCACTTTGGTGAAGTGGGGGCCCGCGCCGCCCCCTCCCCCTCCCCAGGTTCTTACAATCAGTGACTCGGAGATTTGGGGCCCCAGTGCCACTGCCCTCCCCCGCCCCGTCCCCGTTGTGCGTCATGCTGTTTTTTAAAAACCTGTTTCCAAATTTGTATGGAATGGCAAACTGTTGGGGGGTCGGTTTGGGGAGGGAGGGTTTGCATGAAAGACACACGCACACCACACCGCACGCACAAGCAGGCCCGGCGCCGGCGTCCGGGGGGCAGAAGGAGGTGAGCTCGCCGGCTCCTCCTCCCCGCGGCCATTCTGTCCCCTCCTGGGGTGAGGGGTGGGGATGGAGACCTGGGGGCAGCCCCACCCCTGCCCGGACTGTGCCTCGGTGGGTGCCACCTGGCGATTTCCGGTGTCTGGAGAGAGTATTTTTTGGTCCAAGGAGTCCTCTTGGCTTTAGCTGGTGGGTGGGCGGGGAGAGGTCTGAGGGCTCCTACTGGAGGTTCCCCCAAAAAGGGGCAAAAGGAGACCCTCTGCCCACCGGAGGCAGGGGATCAGGCATCCAAATACACGATGCAAAAATGCAATCCCACAGGCGACACACCCACACACTCACCCACACACACGCAATTTTACCTTCCTCTTGTAGCGAAGATGAAACTCCCGTCGGACACCCGAAGTGCATTGCGTGTTTCTGTTCAGTTTAATGACGATTAATAAATATTTATGTAAATGAGATGCAAAGCCGGA)$ . 11BR038 ENSG00000273559.5 ENSG00000278845.5 -/- +/- chr17:38825166 chr17:38317317 CDS/splice-site intron deletion/5'-5' 6 6 0 501 21 high out-of-frame . . . . ENSG00000273559.5 ENSG00000278845.5 ENST00000614790.5 . upstream downstream . ^AGAGCGGTGGTGAAACTGGCAGTTGACGGCTCCTGGGACTAGATCCCGCGAGGTAGCCCCCGAACTATTTCTCTACGTTTTCTCTTGATCCTCCCGAAATCTTCCAGATCCGCGTAGTGAGGAATCGTCTCCACCGTCATGGGGGGCGGAGACCTG|GAAAGATTCCAAGTCATTTCCTCTACTGTAGGAACAGACTGAGCTGTGGTGACAACTACCATGATGACCATCACTGGCACCTCTGAGTGAACTCTTCCTCCCCACTATCCTGGCATAGAAGTCTTCAGTGGAAATAAACTCC MGGGDL|erfqvisstvgtd* 11BR038 ENSG00000132581.10(140),ENSG00000109111.15(152) ENSG00000173065.13 ./- -/- chr17:28662046 chr17:28766707 intergenic 5'UTR/splice-site duplication 3 8 1 287 128 high . . |Protein_family_of_FAM222A(100%) . . . ENSG00000173065.13 . ENST00000581407.5 upstream downstream . CCTGTCACCGGGAGTGGGCGGGCCATTTCTTGTTCTCTCTCCCGCTCTCGGAAGCTTTCGTCTCGTGGGTGCGAAAGGTAACCGAAGCGGCTCAGGAAGGCAGCTGTCACTGAGCCCCTGGAACAGAGCGAGAGTATC|TGTGAGCCACTGCCCCATGTTGTGTTGATGCCAATCTGCCATGCTAGCCTGTCTACCAGGGCCAGGTGACCTGTCCTTTCAGCTTCTTTCTCACACGCAGATGAACACTGGACTTCAGAAAT___GGG(ACACTACACAGAAAATGAGAACTGCTCACTATCCTACCCCAGCCGAATTGGATGCGTATGCTAAGAAGGTCGCAAACAACCCACTGACTATAAAAATCTTCCCCAACAGTGTGAAGGTTCCCCAGCGGAAACACGTTCGTCGTACTGTGAACGGCCTCGACACATCAGCCCAGCGCTACAGCCCCTACCCGACACAGGCTGCCACCAAGGCAGGCCTGCTTGCCATTGTCAAAGTGCCAGCCAAAAGCATACTCAAGGACTTTGACGGCACCCGAGCCCGGTTGCTCCCTGAGGCCATCATGAACCCCCCAGTGGCACCCTATGCTACTGTGGCACCCAGCACTTTAGCCCACCCCCAGGCCCAGGCTCTGGCCCGCCAGCAGGCCCTGCAGCATGCACAGACCCTGGCCCATGCCCCTCCCCAGACGCTGCAGCACCCTCAGGGTATCCCGCCACCCCAGGCACTGTCCCACCCTCAGAGCCTCCAGCAGCCTCAGGGCCTGGGCCACCCTCAGCCCATGGCCCAAACCCAGGGCTTGGTCCACCCTCAGGCCCTGGCTCACCAGGGTCTCCAGCACCCCCACAATCCCTTGCTGCATGGAGGCCGGAAGATGCCAGACTCAGATGCCCCCCCGAATGTGACCGTGTCTACCTCAACTATCCCCCTTTCAATGGCGGCCACTCTGCAGCACAGCCAGCCTCCGGACCTGAGTAGCATCGTGCACCAGATCAACCAGTTTTGCCAGACGAGGGCAGGCATCAGCACTACCTCAGTGTGTGAGGGCCAGATCGCCAACCCCAGCCCCATTAGTCGCAGTCTGCTCATCAATGCAAGCACCCGGGTGTCGACCCACAGCGTCCCCACACCAATGCCTTCATGTGTGGTCAATCCCATGGAGCACACCCACGCGGCCACCGCCGCGTTGCCTGCTGCAGGTCCTGTCAACCTGCCCACAGGCATCTCTCGCGTCCCCACTGGCTACCCTAGCGACCTCAAGCCAGTCACCTGGAACCAGCACCAGCTGGCCCACCTACAGCAGATGTGCAGCGAGGCTAGTGGGACGCCAGCCCCTGGCCTGACAGGCAAGCATGCGGCAGGACGCGAGTTGGCAGGGCCTGGCTTTGTGGGCAAGGCCCCTGCCTACCCGCAGGAACTCTGCCTGGCGCAGTCCTTCCATCTGAAGCCACCCCTGGAAAAGCCGACCCCATCCCCACCAGTCAACGGCATGGCAGCCCCATTGGCCTACCCCAATGGTCACTACTTCCAACCCCTGTGGAACAACATTCTGCCCACTCCCAATAGCGACAGCTCGGGGTCTCAGGACCTTGCCATGCCGTTCCACGGTGGGCAGCCCACAGGTGCACCCCTCGACTGTGCGGCAGCTCCCGGGGCCCACTACCGAGCAGGGACCGGGGGCGGTCCAGTGGCAAGCCAGAACAGCTTGATGCAAACAGTGGATTACCTAAGTGGGGATTTCCAACAGGCCTGCTTCCGAGAACAGAGCCTGGCCATGCTGAGCAAGGCCCACCGAGCCCCTGGCAACCGAGCCCCCGATCCCACAGAGAGTCGAAGTCTTCATATTCAGCACCCAGGGTATAGATAGGTAGCCCTGCTGCCCTCCACGTGCAACACATCATACATCACCCTCCTAGGTTTAGTCTTTTAAGTAACTGGATAGTTTCAAAGTTTCACTGCTCCAGTGTGATCATTCTTAGATGTCTAAGAAAGGGAATTTGGTGGGATCTAAGTGGGGACAGAAGGGGTCCTCTCGTCCTCCCCTCCAGCAACTTTTGGTTTTATGTTAGAACCTAACCCTAAGCCCAGGCTTTTCTCTCCACTGACTGCCTGTCAGCTAGTCTCTCCACCTTGGCCATTTCCAGCCAGCTCCCACCCATCTTTTCTTGAATCTCTTCCTGTTTCCCTTAGGACGACTGAGGTGTGGGCTGACGGAATGCCCTAGTTGAGGTAGTATAGGTGCTCAGGCCCCTAATCCAGACCTCTACCTGTTGCTACCCCCCTTCCCCTCCCTCCAGGACTAAGAAGCAAGATTTCCCAGGTGCTCTGAAAGCTAATTACTTACTCATCGAAGGATCTCAAATCAAAGCTGACCCAGTCTTCATATCCTTCAAGTTCCTTTCCATTCCTCAAGGCTTTGTTTTGTGTCTATATTGATCCCACAGCCACTGCACTTGCCCTTGCCACACTTGATCTCAAGGGCATCTTGGAAGTATTTGACCATTTCTTGAGATATGGGGGGAAAAAGTCTTTGTATTGGCATCTTGGTTCCAGACTCCCCTTTCCAAACCTAGAAAAATACAGTGACCTTTGAGCATACCCAAGATCCCTTTCTCACTGTTGCCTGTCCCCTAACTCACCTCCCCACAGCCCCTATCCTTTCCCCCTCAACAAAAACAAAATCTACCTTACTTGAGGAATTAGGTAGGTAAGGAATGATCACATTGGAGTTTGGGATTAAAAACACCAAAAAAAAAAAAATGCATTTGGTTCTCTCTACACTGGCTAAGAATATTGCTCTACACTGTAAGTTTTAAACGTTACGTTTCTGTATGAATGTAGTGTGGGTTTGAGTAGCATTGTGTGTGAGTGGCCCCACAGGTACATTCACCCTCTAGTGCAGCCCCTCAGTTTAATGAAGGAAAAAAAAACAAACACAAAGCCTTAAGCTCTTTGAGTACTTCCTTTACCAAATGAGCATGGTTCTAACACCTGGAGCTGGGCCTACATTGGAAACAAGCCCCTCCTGCCCTCTGTCCATTCTTAGAGCATACCTTCATCCACTCCATGCTCAGCACGTCTCATCCCAAGCGACAATTAGTTGGCTAGAAACACTTTTCTGTAATTTTAAACTTAGACTGTTTTGTTACAAATTTTTGCACCATTCTGTTAAAGATGCAGAATTGGGCTTTTTTATTTTTTACAGATGAAATAAGCCCTTACCTTTCCTCTTGTCTCTGGGGAATGTCAGCTGATGGTTCTTATTTAAGGTTTTGCATTTTGTTCACTATCCACTACTGTTCGTTAGCCAGAAATTCTCTAGTGATCTGAAGCAATGTGACTGAAGACCAGTTTTAAGTTATGTGTTGGCAAGTTGCCTTATATTTAAAAGGAAAAAGAAAAAAAAAAAAGCCTGATTGTGTTATGCCAAATGATAGCAACATGAAGTCCTAATTTATTGTTCCCAATTGTTTTCCTGCCGTCTGTGAACACTGGTACCTCCCTGTCCTGATCCCCCAGGAGCACCTGTAGCTTCTGACTCAATGCCTTCTCCGAAGGTGTTGGCCGCCATCTCACCCAGGGCCCTCTTCCAGTTCCTGCTTTTCTGAGTCAGATTTAAAGAGCACCACTGTCTTCCCCCTACCCCTTGCTTGATCTCCAAAGCAGATATTCTTGCTGTATTTTTTTTTCCTCCCCAATACCTCTCCCTGAAAGGTGAGCTGCTATTTTAGGAAACTGGACCAGACACCAACTTGGGGGCTTTAAGTCAAACAACCTCAAACCCATCTCTTCCTGTGTAGGGGTGCAAGCCTCTGAAGCTCTCACTCCCACCCTTAGTCTGCATGGAAAATGTACTGTGATCCCCCTGCCCCCAACTGCCCTCGCCTTTGGTGTGAGATGTTCCTTCTTTCGGAGTTCAGCCTGAGTCCCTCTCCCCTCTGCCAGCCAACCCCCAGCCAGCAATAAGGGTCCAAGCCAGGGCCTCCTCTCCACACTCCCTGTCTCCATCCTACACTACCCTAGGGAATACCTGGATTCCCCATTCTATCCACATACTGTAGCATTCATTCTCCATCTCTCTCACCTCACCTGTGGTGGTTTATGGGTGTGATGGGGTTTTTAAGATTATTATAAACCAGTAAAAATAAGAAAACCTC)$ . 11BR038 ENSG00000173065.13 ENSG00000161381.14 -/- -/- chr17:28790378 chr17:39139832 5'UTR/splice-site CDS/splice-site duplication 1 9 0 15 60 high . . . . . ENSG00000173065.13 ENSG00000161381.14 ENST00000452648.7 ENST00000315392.9 upstream downstream . ^(AGCCGGCTGGGGGAGGGGGTGTCGGCGCACCGCGGAGTCCTGCGCTCCGTGAGCCTGGCACCCGGAGCAGCCGCCTCCCCCTCCCCCTGCCTAG)ACCGCTAGAAGCCCCCTCTCTTCCATCCTCCCGGGGCGGGGGTGAGCTGGGCTCAGCTGCCCAAGGCGGGCGGGGCGGAGCCAGGAGCCCCACGGAGCGCTGCGGAGCGAACCTCACCTTTCCAGGGCGCAAG___GAATATCACAGGAGTGATGCTGTGTTCTTCACTGCATGATTTCAAAAG|GTCACGATGAGGGCCCAGGCTCTGGATGGGCTGCCAAAGGGACCGTGCGGGGCTGGAACCGGAGAGCCCGAGAGAGCCCTGGGCATGTGTCAGAGCCGGACAGGACCCAGCTGAGCCAGGACCTGGGTGGGG(GCACCCTGGCCATGGACACGCTGCCAGATAACAGGACCAGGGTGGTG___GAGGACAACCACAGCTATTATGTGTCCCGTCTCTATGGCCCCAGCGAGCCCCACAGCCGGGAACTGTGGGTAGATGTGGCCGAGGCCAACCGGAGCCAAGTGAAGATCCACACAATACTCTCCAACACCCACCGGCAGGCTTCG___AGAGTGGTCTTGTCCTTTGATTTCCCTTTCTACGGGCATCCTCTGCGGCAGATCACCATAGCAACTGGAG___GCTTCATCTTCATGGGGGACGTGATCCATCGGATGCTCACAGCTACTCAGTATGTGGCGCCCCTGATGGCCAACTTCAACCCTGGCTACTCCGACAACTCCACAGTTGTTTACTTTGACAATG___GGACAGTCTTTGTGGTTCAGTGGGACCACGTTTATCTCCAAGGCTGGGAAGACAAGGGCAGTTTCACCTTCCAGGCAGCTCTGCACCATGACGGCCGCATTGTCTTTGCCTATAAAGAG___ATCCCTATGTCTGTCCCGGAAATCAGCTCCTCCCAGCATCCTGTCAAAACCGGCCTATCGGATGCCTTCATGATTCTCAATCCATCCCCGGATGTGCCAG___AATCTCGGCGAAGGAGCATCTTTGAATATCACCGCATAGAGCTGGACCCCAGCAAGGTCACCAGCATGTCGGCCGTGGAGTTCACCCCATTGCCGA___CCTGCCTGCAGCATAGGAGCTGTGACGCCTGCATGTCCTCAGACCTGACCTTCAACTGCAGCTGGTGCCATGTCCTCCAGAG___ATGCTCCAGTGGCTTTGACCGCTATCGCCAGGAGTGGATGGACTATGGCTGTGCACAGGAG___GCAGAGGGCAGGATGTGCGAGGACTTCCAGGATGAGGACCACGACTCAGCCTCCCCTGACACTTCCTTCAGCCCCTATGATGGAGACCTCACCACTACCTCCTCCTCCCTCTTCATCGACAGCCTCACCACAGAAG___ATGACACCAAGTTGAATCCCTATGCAGGAGGAGACG___GCCTTCAGAACAACCTGTCCCCCAAGACAAAGGGCACTCCTGTGCACCTGGGCACCATCGTGGGCATCGTGCTGGCAGTCCTCCTCGTGGCGGCCATCATCCTGGCTGGAATTTACATCAATGGCCACCCCACATCCAATGCTGCGCTCTTCTTCATCGAG___CGTAGACCTCACCACTGGCCAGCCATGAAGTTTCGCAGCCACCCTGACCATTCCACCTATGCGGAGGTGGAGCCCTCGGGCCATGAGAAGGAGGGCTTCATGGAGGCTGAGCAGTGCTGAGAACACCAAGTCTCCCCTTTGAAGACTTTGAGGCCACAGAAAAGACAGTTAAAGCAAAGAAGAGAAGTGACTTTTCCTGGCCTCTCCCAGCATGCCCTGGGCTGAGATGAGATGGTGGTTTATGGCTCCAGAGCTGCTGCTCGCTTCGTCAGCACACCCCGAATATTGAAGAGGGGGCCAAAAAACAACCACATGGATTTTTTATAGGAACAACAACCTAATCTCATCCTGTTTTGATGCAAGGGTTCTCTTCTGTGTCTTGTAACCATGAAACAGCAGAAGAACTAACATAACTAACTCCATTTTTGTTTAAGGGGCCTTTACCTATTCCTGCACCTAGGCTAGGATAACTTTAGAGCACTGACATAAAACGCAAAAACAGGAATCATGCCGTTTGCAAAACTAACTCTGGGATTAAAGGGGAAGCATGTAAACAGCTAACTGTTTTTGTTAAAGATTTATAGGAATGAGGAGGTTTGGCTATTGTCACATGACAGACTGTTAGCCAAGGACAAAGAAGTTCTGCAAACCTCCCCTGGACCCTTGCTGGTGTCCAGATGTCTGCGGTTGTCAGCCCCTTCCTTTCCCCCGACCTAAACATAAAAGACAAGGCAAAGCCCGCATAATTTTAAGACGGTTCTTTAGGACATTAGTCCACCATCTTCTTGGTTTGCTGGCTCTCCGAAATAAAGTCCCTTTCCTTGCTCCAACTCCTTGTCTCTCAACGTATTGGCTATGACGCAGCAAGCAGAATGAATTTGGACTCAGTTACAGGCTGTCAATGGTCTGCTCTGTAGCAGTCTCAGAGCCTCCCCGACCCACTACCTGGAGATAGCCAGATAGCCAGATGCCCTGCTCCTGGCCACCTTTAAAGCCCCTGCATATGACACAGGTTAACTAAAGTCAAGATTGGGGCTGCTGCATTCCAGGTTCCCTAGACTCACAAGCTGGTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAAGTCAGAAGTTTGAGACCAGCCTGGCCAACATAATTAAAATGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGACGCTTGCCTGTATCCCAGCTACTCAGGAAGCTGAGACACGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTCAGATAGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAAGCAGATCCTCATGGCTATAGAGTTGGCATTTTAGCCCCAGCTTCTGTAGCTCTGAAAGCCTAAAGAAGGTATTCTCTCCATCTGTTAAACACAGTATAGTGGCTCTCAGCCCTTGGGGCATGTTATCATGGGAGGGAAGTCAAATAAGAGGAGAGAAAAGAACTCAAGGGGGAAACTGCATTTTTAGGCTTTGCTCTCTTACCTTGCCCTTTCTACTCAGAACCAATAACTTCTGCATCAAAACATGTTACAGCCTGCATCAAGGGCTTTACCCCAACCTGCAGCCCAGCCTTCCCTGGGTGAGCTTGCTATGCGCAGCCACATTTACCATGTGGGGCTCCCTATTCTGATGGCCTGTTCGGTGCCGGGTTTACTCACTGCCCTGTTCTGATGTCAGTGCCTGTACATACCTCCAAAGGCAGGACTTGCCTGATAAATATTTTTCCTCCTCTGAACTGGATTTTATAGGCATTAAAGACAAGTCGGGTGGCTAGAGGGCTCCTTGAGACATACCTAGCAGGGAACTGCAGGTGGATTCTGTTGAGAGGCAAAGCACCTGAGTGGTTGGGACACAGGCAGCTGGCATGGGAGGGACTTTTTTTGAGACAGGGTCTCACTGTGTCGCCCAGGGCAAGGATGCCCAAAGACACCAGGTTGGAGAGGCACCTGCCAACTACTTGCTTTCCCTGGAGCCTGCATGTGCCTGTGGGGTGGGGAGGCGTAGGGGTCTACGGCTGCCTGAGATGGGTGTGCACAGTGTGTGAAGTACCTACCTCCTTGCCTTGCTGGACTGTCAGCCAGTCGCAGGGCCGGCCACAAGACCCATGTCTCCATCTGGTCATACTCCATAGCTACCAAGTTAACCTGCTCTAAACTTTGGAGAACTGGATCTGTCCAATAAACGCTTATTTGGCCAAGCCTGATGGCTCGTGCCTGTACTCCCAGCACTTTGGGAGGCTGAGGTGGGAGGGTTGCTTGAGCCCAGGGGTTTGAGACCAGCTTGGGCAACAACAACAAAAATGCCAGGTGTGGTGGGGTGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGCCAGGAGGATCACTTGAGCCCGGGAGGTTGAGGCTGCAGTGGGGGGTCATAATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCCGAAAAAAAAAAAAAAAAAAAGAACGGAAAAAGAAATGCTTACATTGTCAGGGATCCTGTAGACAATCATTAACTCTATGAGATGCTTGGTTCTATTTTTTTGGGAGACTTTGTCCAAGTGTTTTGGCTTAAGAAATCCATAGGCCTCTCTTGGTGACACATCTCTAGTACTTTTTGTCATAAACAAACAGGCCATCTGCCGCCAAATACATCCACTCCCCATGCCACTGACATCCTATGGGTCAGCCAGGCTTGCTTTGACTGAGGCCGAGGCATCTGGAACTTTCTCTGCCTGCAGGGGCTAGCAGCAGAGGCTTCACCGCATCACCACCCCTTCCTCCACTCCTGACATTCTTTCCCTTCAGGGATCCAAAATGGTTGGCCGAGCTCCCAGTGGGAAAACGTGTGCTAGAGTTGGGGAGTGAGATGAGTGGTGCTGTCCATGGAATCAGGCCACAGCAGGAACTGCCCCACTGGCCATTTGAGACACACACAGGTGGTAAATGCTCTGCTGGTGGGCTGTGCTTCCCTCATTCAGAGAGCTCTGTTACAGCCCACTGTGTCCTTTAGAAGCTTGAAAGGAACCCAACTCTTTGCTGCACTGTCCTTTTTCTTCCTCAAATTCAGACCCTCCTTCCACCGGCACCCCCCTACTCCACCCTCAGCTCTTCCTTGCCTGGTTTATCAAGCAGAGCTGAGGCCCCACGTTTCCAACTCTGATTGTCACTTGCATCTTCACAAAGGATAAACCACGGAGCAACTGGAAAACCATCAGCCAAGCGTTCGGATGAGTCTGGTTATTGGTCCACCCCCGACCAGATTCCCTTACACTTAACTCACTTCTTTCTTTGGCAATGACCCTCATGACATGTATAAATGGGTATGACTAAGAAGAGGCTGTGATCTAACATTTATTTGCTGCCATTTTTTACTCTGGGGAGAAGCAGCCCCAACTCATCACTGGGAAAGAACTCCCCCTGCAAACCAGCTAAATTTGATAATTTAAACCCCCTGCCCCTAAAACTTCTCACAGAGCTGGGGAGTTGGTGGCAACTTTCCAAGTCAAGGTCTTGCTTAGAAAGTCCTTCACTACATGGCCAGGTGCAGTGGCTCACGCCTGTAGTCCCAGGTACTTGGGAGCCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGGCTGCAGAGAGCTATGATCATCCCACTGCATTTGTTTAAAAATAAATTTTTAAAATTTGTGTGTTTTATCAGGGGTCTCCTGTACAGTGTATCTGTGTATGTTTGTGTGTGTGTTTGTATACAGCCTTGTTTAATGTTTTGAGCAATAAGATATGCACACACAGGTATTTTGTTGCTAAAGAGATTGGACAAGGTTGTAGCTGTGCTCAGGCTTCAGCTTGGTTTGTTAAATTGAGAGATAAACAATGACAAGAGCTGCCAGCCAACCACACTATTCAAAAAGCAAAGTGTTCACCACTAAAGCTAACCATTCATCTGGTTGCAGGCAAGGCTAAGGCTCTCTCTCCTCTAGTTCCTGGAACAGACTCACAGATTGGCATGAAGCACTGATCAGGGGCTGCACTCAGACTCCCTGGCCAAGCAAACCTACACCAGAAGAGTCAGTGTCACAGATATGATGCGGCCAATCTCTGTCTCCAAAAACCTACCTGAACTTAATGGTAGAATTCAAAGATCTGGGGACTGAGGGCACCCAGCCTTCTAAAACACAATGTATTCATGTGTTTAGTGTAAACTCTCTGCATGGATTCTCAGTGTTAATAATAAAAGGAAGCATTCTTTTACAACTCCTGCTGTGTGCAAAAGAAAGTGCAAAGGATTTGGAGTGGCATTCCGAAGATCACCACACATACCTTGGTTCTGATGGCTGCTGAACTCCGACTTCTTCGCTGAGACATGACTGTGGGAACAGCCTCCAGCTATCTGCTCATCAGAGGTGCTTTCCTCAACCTCCTGCACCACCTCCAAGAGAAACAGCCTAAAAAGAAACCCCAGCTGTTTACTTATATTGGTCTGTAAATCCCTGGAAGTAAACCCCATGCATTTTTATCTACTGTCTGAGGACATACAATAAATCTGAGAAAGTC)$ . 11BR038 ENSG00000173065.13 ENSG00000161381.14 -/- -/- chr17:28812209 chr17:39139832 5'UTR/splice-site CDS/splice-site duplication 1 7 0 78 60 high . . . . . ENSG00000173065.13 ENSG00000161381.14 ENST00000452648.7 ENST00000315392.9 upstream downstream duplicates(1) ^(AGCCGGCTGGGGGAGGGGGTGTCGGCGCACCGCGGAGTCCTGCGCTCCGTGAGCCTGGCACCCGGAGCAGCCGCCTCCCCCTCCCCCTGCCTAGACCGCTAGAAGCCCCCTCTCTTCCATCCTCCCGGGGCGGGGGTGAGCTGGGCTCAGCTGCCCAAGGCGGG)CGGGGCGGAGCCAGGAGCCCCACGGAGCGCTGCGGAGCGAACCTCACCTTTCCAGGGCGCAAG|GTCACGATGAGGGCCCAGGCTCTGGATGGGCTGCCAAAGGGACCGTGCGGGGCTGGAACCGGAGAGCCCGAGAGAGCCCTGGGCATGTGTCAGAGCCGGACAGGACCCAGCTGAGCCAGGACCTGGGTGGGGGCACCCTGGCCATGGACACGCTGCC(AGATAACAGGACCAGGGTGGTG___GAGGACAACCACAGCTATTATGTGTCCCGTCTCTATGGCCCCAGCGAGCCCCACAGCCGGGAACTGTGGGTAGATGTGGCCGAGGCCAACCGGAGCCAAGTGAAGATCCACACAATACTCTCCAACACCCACCGGCAGGCTTCG___AGAGTGGTCTTGTCCTTTGATTTCCCTTTCTACGGGCATCCTCTGCGGCAGATCACCATAGCAACTGGAG___GCTTCATCTTCATGGGGGACGTGATCCATCGGATGCTCACAGCTACTCAGTATGTGGCGCCCCTGATGGCCAACTTCAACCCTGGCTACTCCGACAACTCCACAGTTGTTTACTTTGACAATG___GGACAGTCTTTGTGGTTCAGTGGGACCACGTTTATCTCCAAGGCTGGGAAGACAAGGGCAGTTTCACCTTCCAGGCAGCTCTGCACCATGACGGCCGCATTGTCTTTGCCTATAAAGAG___ATCCCTATGTCTGTCCCGGAAATCAGCTCCTCCCAGCATCCTGTCAAAACCGGCCTATCGGATGCCTTCATGATTCTCAATCCATCCCCGGATGTGCCAG___AATCTCGGCGAAGGAGCATCTTTGAATATCACCGCATAGAGCTGGACCCCAGCAAGGTCACCAGCATGTCGGCCGTGGAGTTCACCCCATTGCCGA___CCTGCCTGCAGCATAGGAGCTGTGACGCCTGCATGTCCTCAGACCTGACCTTCAACTGCAGCTGGTGCCATGTCCTCCAGAG___ATGCTCCAGTGGCTTTGACCGCTATCGCCAGGAGTGGATGGACTATGGCTGTGCACAGGAG___GCAGAGGGCAGGATGTGCGAGGACTTCCAGGATGAGGACCACGACTCAGCCTCCCCTGACACTTCCTTCAGCCCCTATGATGGAGACCTCACCACTACCTCCTCCTCCCTCTTCATCGACAGCCTCACCACAGAAG___ATGACACCAAGTTGAATCCCTATGCAGGAGGAGACG___GCCTTCAGAACAACCTGTCCCCCAAGACAAAGGGCACTCCTGTGCACCTGGGCACCATCGTGGGCATCGTGCTGGCAGTCCTCCTCGTGGCGGCCATCATCCTGGCTGGAATTTACATCAATGGCCACCCCACATCCAATGCTGCGCTCTTCTTCATCGAG___CGTAGACCTCACCACTGGCCAGCCATGAAGTTTCGCAGCCACCCTGACCATTCCACCTATGCGGAGGTGGAGCCCTCGGGCCATGAGAAGGAGGGCTTCATGGAGGCTGAGCAGTGCTGAGAACACCAAGTCTCCCCTTTGAAGACTTTGAGGCCACAGAAAAGACAGTTAAAGCAAAGAAGAGAAGTGACTTTTCCTGGCCTCTCCCAGCATGCCCTGGGCTGAGATGAGATGGTGGTTTATGGCTCCAGAGCTGCTGCTCGCTTCGTCAGCACACCCCGAATATTGAAGAGGGGGCCAAAAAACAACCACATGGATTTTTTATAGGAACAACAACCTAATCTCATCCTGTTTTGATGCAAGGGTTCTCTTCTGTGTCTTGTAACCATGAAACAGCAGAAGAACTAACATAACTAACTCCATTTTTGTTTAAGGGGCCTTTACCTATTCCTGCACCTAGGCTAGGATAACTTTAGAGCACTGACATAAAACGCAAAAACAGGAATCATGCCGTTTGCAAAACTAACTCTGGGATTAAAGGGGAAGCATGTAAACAGCTAACTGTTTTTGTTAAAGATTTATAGGAATGAGGAGGTTTGGCTATTGTCACATGACAGACTGTTAGCCAAGGACAAAGAAGTTCTGCAAACCTCCCCTGGACCCTTGCTGGTGTCCAGATGTCTGCGGTTGTCAGCCCCTTCCTTTCCCCCGACCTAAACATAAAAGACAAGGCAAAGCCCGCATAATTTTAAGACGGTTCTTTAGGACATTAGTCCACCATCTTCTTGGTTTGCTGGCTCTCCGAAATAAAGTCCCTTTCCTTGCTCCAACTCCTTGTCTCTCAACGTATTGGCTATGACGCAGCAAGCAGAATGAATTTGGACTCAGTTACAGGCTGTCAATGGTCTGCTCTGTAGCAGTCTCAGAGCCTCCCCGACCCACTACCTGGAGATAGCCAGATAGCCAGATGCCCTGCTCCTGGCCACCTTTAAAGCCCCTGCATATGACACAGGTTAACTAAAGTCAAGATTGGGGCTGCTGCATTCCAGGTTCCCTAGACTCACAAGCTGGTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAAGTCAGAAGTTTGAGACCAGCCTGGCCAACATAATTAAAATGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGACGCTTGCCTGTATCCCAGCTACTCAGGAAGCTGAGACACGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTCAGATAGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAAGCAGATCCTCATGGCTATAGAGTTGGCATTTTAGCCCCAGCTTCTGTAGCTCTGAAAGCCTAAAGAAGGTATTCTCTCCATCTGTTAAACACAGTATAGTGGCTCTCAGCCCTTGGGGCATGTTATCATGGGAGGGAAGTCAAATAAGAGGAGAGAAAAGAACTCAAGGGGGAAACTGCATTTTTAGGCTTTGCTCTCTTACCTTGCCCTTTCTACTCAGAACCAATAACTTCTGCATCAAAACATGTTACAGCCTGCATCAAGGGCTTTACCCCAACCTGCAGCCCAGCCTTCCCTGGGTGAGCTTGCTATGCGCAGCCACATTTACCATGTGGGGCTCCCTATTCTGATGGCCTGTTCGGTGCCGGGTTTACTCACTGCCCTGTTCTGATGTCAGTGCCTGTACATACCTCCAAAGGCAGGACTTGCCTGATAAATATTTTTCCTCCTCTGAACTGGATTTTATAGGCATTAAAGACAAGTCGGGTGGCTAGAGGGCTCCTTGAGACATACCTAGCAGGGAACTGCAGGTGGATTCTGTTGAGAGGCAAAGCACCTGAGTGGTTGGGACACAGGCAGCTGGCATGGGAGGGACTTTTTTTGAGACAGGGTCTCACTGTGTCGCCCAGGGCAAGGATGCCCAAAGACACCAGGTTGGAGAGGCACCTGCCAACTACTTGCTTTCCCTGGAGCCTGCATGTGCCTGTGGGGTGGGGAGGCGTAGGGGTCTACGGCTGCCTGAGATGGGTGTGCACAGTGTGTGAAGTACCTACCTCCTTGCCTTGCTGGACTGTCAGCCAGTCGCAGGGCCGGCCACAAGACCCATGTCTCCATCTGGTCATACTCCATAGCTACCAAGTTAACCTGCTCTAAACTTTGGAGAACTGGATCTGTCCAATAAACGCTTATTTGGCCAAGCCTGATGGCTCGTGCCTGTACTCCCAGCACTTTGGGAGGCTGAGGTGGGAGGGTTGCTTGAGCCCAGGGGTTTGAGACCAGCTTGGGCAACAACAACAAAAATGCCAGGTGTGGTGGGGTGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGCCAGGAGGATCACTTGAGCCCGGGAGGTTGAGGCTGCAGTGGGGGGTCATAATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCCGAAAAAAAAAAAAAAAAAAAGAACGGAAAAAGAAATGCTTACATTGTCAGGGATCCTGTAGACAATCATTAACTCTATGAGATGCTTGGTTCTATTTTTTTGGGAGACTTTGTCCAAGTGTTTTGGCTTAAGAAATCCATAGGCCTCTCTTGGTGACACATCTCTAGTACTTTTTGTCATAAACAAACAGGCCATCTGCCGCCAAATACATCCACTCCCCATGCCACTGACATCCTATGGGTCAGCCAGGCTTGCTTTGACTGAGGCCGAGGCATCTGGAACTTTCTCTGCCTGCAGGGGCTAGCAGCAGAGGCTTCACCGCATCACCACCCCTTCCTCCACTCCTGACATTCTTTCCCTTCAGGGATCCAAAATGGTTGGCCGAGCTCCCAGTGGGAAAACGTGTGCTAGAGTTGGGGAGTGAGATGAGTGGTGCTGTCCATGGAATCAGGCCACAGCAGGAACTGCCCCACTGGCCATTTGAGACACACACAGGTGGTAAATGCTCTGCTGGTGGGCTGTGCTTCCCTCATTCAGAGAGCTCTGTTACAGCCCACTGTGTCCTTTAGAAGCTTGAAAGGAACCCAACTCTTTGCTGCACTGTCCTTTTTCTTCCTCAAATTCAGACCCTCCTTCCACCGGCACCCCCCTACTCCACCCTCAGCTCTTCCTTGCCTGGTTTATCAAGCAGAGCTGAGGCCCCACGTTTCCAACTCTGATTGTCACTTGCATCTTCACAAAGGATAAACCACGGAGCAACTGGAAAACCATCAGCCAAGCGTTCGGATGAGTCTGGTTATTGGTCCACCCCCGACCAGATTCCCTTACACTTAACTCACTTCTTTCTTTGGCAATGACCCTCATGACATGTATAAATGGGTATGACTAAGAAGAGGCTGTGATCTAACATTTATTTGCTGCCATTTTTTACTCTGGGGAGAAGCAGCCCCAACTCATCACTGGGAAAGAACTCCCCCTGCAAACCAGCTAAATTTGATAATTTAAACCCCCTGCCCCTAAAACTTCTCACAGAGCTGGGGAGTTGGTGGCAACTTTCCAAGTCAAGGTCTTGCTTAGAAAGTCCTTCACTACATGGCCAGGTGCAGTGGCTCACGCCTGTAGTCCCAGGTACTTGGGAGCCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGGCTGCAGAGAGCTATGATCATCCCACTGCATTTGTTTAAAAATAAATTTTTAAAATTTGTGTGTTTTATCAGGGGTCTCCTGTACAGTGTATCTGTGTATGTTTGTGTGTGTGTTTGTATACAGCCTTGTTTAATGTTTTGAGCAATAAGATATGCACACACAGGTATTTTGTTGCTAAAGAGATTGGACAAGGTTGTAGCTGTGCTCAGGCTTCAGCTTGGTTTGTTAAATTGAGAGATAAACAATGACAAGAGCTGCCAGCCAACCACACTATTCAAAAAGCAAAGTGTTCACCACTAAAGCTAACCATTCATCTGGTTGCAGGCAAGGCTAAGGCTCTCTCTCCTCTAGTTCCTGGAACAGACTCACAGATTGGCATGAAGCACTGATCAGGGGCTGCACTCAGACTCCCTGGCCAAGCAAACCTACACCAGAAGAGTCAGTGTCACAGATATGATGCGGCCAATCTCTGTCTCCAAAAACCTACCTGAACTTAATGGTAGAATTCAAAGATCTGGGGACTGAGGGCACCCAGCCTTCTAAAACACAATGTATTCATGTGTTTAGTGTAAACTCTCTGCATGGATTCTCAGTGTTAATAATAAAAGGAAGCATTCTTTTACAACTCCTGCTGTGTGCAAAAGAAAGTGCAAAGGATTTGGAGTGGCATTCCGAAGATCACCACACATACCTTGGTTCTGATGGCTGCTGAACTCCGACTTCTTCGCTGAGACATGACTGTGGGAACAGCCTCCAGCTATCTGCTCATCAGAGGTGCTTTCCTCAACCTCCTGCACCACCTCCAAGAGAAACAGCCTAAAAAGAAACCCCAGCTGTTTACTTATATTGGTCTGTAAATCCCTGGAAGTAAACCCCATGCATTTTTATCTACTGTCTGAGGACATACAATAAATCTGAGAAAGTC)$ . 11BR038 ENSG00000173065.13 ENSG00000161381.14 -/- -/- chr17:28842682 chr17:39109391 5'UTR/splice-site CDS/splice-site duplication 2 4 0 34 146 high . . . . . ENSG00000173065.13 ENSG00000161381.14 ENST00000581407.5 ENST00000315392.9 upstream downstream . ^(ACACGCTGCGCAGGCGCAGGAGCGGCTCCGGGTAGTCCCCACAGCTGCG)CCGGTGACTGAGGGGCCGGGCAGTGGAGAAGTGGTGGCGGCGGGCGGCGGGCGGCAAAGGAGCAGCCATGAGGGCCGGGCCCAGTCACCGACC|GAGGACAACCACAGCTATTATGTGTCCCGTCTCTATGGCCCCAGCGAGCCCCACAGCCGGGAACTGTGGGTAGATGTGGCCGAGGCCAACCGGAGCCAAGTGAAGATCCACACAATACTCTCCAACACCCACCGGCAGGCTTCG___AGAG(TGGTCTTGTCCTTTGATTTCCCTTTCTACGGGCATCCTCTGCGGCAGATCACCATAGCAACTGGAG___GCTTCATCTTCATGGGGGACGTGATCCATCGGATGCTCACAGCTACTCAGTATGTGGCGCCCCTGATGGCCAACTTCAACCCTGGCTACTCCGACAACTCCACAGTTGTTTACTTTGACAATG___GGACAGTCTTTGTGGTTCAGTGGGACCACGTTTATCTCCAAGGCTGGGAAGACAAGGGCAGTTTCACCTTCCAGGCAGCTCTGCACCATGACGGCCGCATTGTCTTTGCCTATAAAGAG___ATCCCTATGTCTGTCCCGGAAATCAGCTCCTCCCAGCATCCTGTCAAAACCGGCCTATCGGATGCCTTCATGATTCTCAATCCATCCCCGGATGTGCCAG___AATCTCGGCGAAGGAGCATCTTTGAATATCACCGCATAGAGCTGGACCCCAGCAAGGTCACCAGCATGTCGGCCGTGGAGTTCACCCCATTGCCGA___CCTGCCTGCAGCATAGGAGCTGTGACGCCTGCATGTCCTCAGACCTGACCTTCAACTGCAGCTGGTGCCATGTCCTCCAGAG___ATGCTCCAGTGGCTTTGACCGCTATCGCCAGGAGTGGATGGACTATGGCTGTGCACAGGAG___GCAGAGGGCAGGATGTGCGAGGACTTCCAGGATGAGGACCACGACTCAGCCTCCCCTGACACTTCCTTCAGCCCCTATGATGGAGACCTCACCACTACCTCCTCCTCCCTCTTCATCGACAGCCTCACCACAGAAG___ATGACACCAAGTTGAATCCCTATGCAGGAGGAGACG___GCCTTCAGAACAACCTGTCCCCCAAGACAAAGGGCACTCCTGTGCACCTGGGCACCATCGTGGGCATCGTGCTGGCAGTCCTCCTCGTGGCGGCCATCATCCTGGCTGGAATTTACATCAATGGCCACCCCACATCCAATGCTGCGCTCTTCTTCATCGAG___CGTAGACCTCACCACTGGCCAGCCATGAAGTTTCGCAGCCACCCTGACCATTCCACCTATGCGGAGGTGGAGCCCTCGGGCCATGAGAAGGAGGGCTTCATGGAGGCTGAGCAGTGCTGAGAACACCAAGTCTCCCCTTTGAAGACTTTGAGGCCACAGAAAAGACAGTTAAAGCAAAGAAGAGAAGTGACTTTTCCTGGCCTCTCCCAGCATGCCCTGGGCTGAGATGAGATGGTGGTTTATGGCTCCAGAGCTGCTGCTCGCTTCGTCAGCACACCCCGAATATTGAAGAGGGGGCCAAAAAACAACCACATGGATTTTTTATAGGAACAACAACCTAATCTCATCCTGTTTTGATGCAAGGGTTCTCTTCTGTGTCTTGTAACCATGAAACAGCAGAAGAACTAACATAACTAACTCCATTTTTGTTTAAGGGGCCTTTACCTATTCCTGCACCTAGGCTAGGATAACTTTAGAGCACTGACATAAAACGCAAAAACAGGAATCATGCCGTTTGCAAAACTAACTCTGGGATTAAAGGGGAAGCATGTAAACAGCTAACTGTTTTTGTTAAAGATTTATAGGAATGAGGAGGTTTGGCTATTGTCACATGACAGACTGTTAGCCAAGGACAAAGAAGTTCTGCAAACCTCCCCTGGACCCTTGCTGGTGTCCAGATGTCTGCGGTTGTCAGCCCCTTCCTTTCCCCCGACCTAAACATAAAAGACAAGGCAAAGCCCGCATAATTTTAAGACGGTTCTTTAGGACATTAGTCCACCATCTTCTTGGTTTGCTGGCTCTCCGAAATAAAGTCCCTTTCCTTGCTCCAACTCCTTGTCTCTCAACGTATTGGCTATGACGCAGCAAGCAGAATGAATTTGGACTCAGTTACAGGCTGTCAATGGTCTGCTCTGTAGCAGTCTCAGAGCCTCCCCGACCCACTACCTGGAGATAGCCAGATAGCCAGATGCCCTGCTCCTGGCCACCTTTAAAGCCCCTGCATATGACACAGGTTAACTAAAGTCAAGATTGGGGCTGCTGCATTCCAGGTTCCCTAGACTCACAAGCTGGTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAAGTCAGAAGTTTGAGACCAGCCTGGCCAACATAATTAAAATGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGACGCTTGCCTGTATCCCAGCTACTCAGGAAGCTGAGACACGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTCAGATAGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAAGCAGATCCTCATGGCTATAGAGTTGGCATTTTAGCCCCAGCTTCTGTAGCTCTGAAAGCCTAAAGAAGGTATTCTCTCCATCTGTTAAACACAGTATAGTGGCTCTCAGCCCTTGGGGCATGTTATCATGGGAGGGAAGTCAAATAAGAGGAGAGAAAAGAACTCAAGGGGGAAACTGCATTTTTAGGCTTTGCTCTCTTACCTTGCCCTTTCTACTCAGAACCAATAACTTCTGCATCAAAACATGTTACAGCCTGCATCAAGGGCTTTACCCCAACCTGCAGCCCAGCCTTCCCTGGGTGAGCTTGCTATGCGCAGCCACATTTACCATGTGGGGCTCCCTATTCTGATGGCCTGTTCGGTGCCGGGTTTACTCACTGCCCTGTTCTGATGTCAGTGCCTGTACATACCTCCAAAGGCAGGACTTGCCTGATAAATATTTTTCCTCCTCTGAACTGGATTTTATAGGCATTAAAGACAAGTCGGGTGGCTAGAGGGCTCCTTGAGACATACCTAGCAGGGAACTGCAGGTGGATTCTGTTGAGAGGCAAAGCACCTGAGTGGTTGGGACACAGGCAGCTGGCATGGGAGGGACTTTTTTTGAGACAGGGTCTCACTGTGTCGCCCAGGGCAAGGATGCCCAAAGACACCAGGTTGGAGAGGCACCTGCCAACTACTTGCTTTCCCTGGAGCCTGCATGTGCCTGTGGGGTGGGGAGGCGTAGGGGTCTACGGCTGCCTGAGATGGGTGTGCACAGTGTGTGAAGTACCTACCTCCTTGCCTTGCTGGACTGTCAGCCAGTCGCAGGGCCGGCCACAAGACCCATGTCTCCATCTGGTCATACTCCATAGCTACCAAGTTAACCTGCTCTAAACTTTGGAGAACTGGATCTGTCCAATAAACGCTTATTTGGCCAAGCCTGATGGCTCGTGCCTGTACTCCCAGCACTTTGGGAGGCTGAGGTGGGAGGGTTGCTTGAGCCCAGGGGTTTGAGACCAGCTTGGGCAACAACAACAAAAATGCCAGGTGTGGTGGGGTGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGCCAGGAGGATCACTTGAGCCCGGGAGGTTGAGGCTGCAGTGGGGGGTCATAATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCCGAAAAAAAAAAAAAAAAAAAGAACGGAAAAAGAAATGCTTACATTGTCAGGGATCCTGTAGACAATCATTAACTCTATGAGATGCTTGGTTCTATTTTTTTGGGAGACTTTGTCCAAGTGTTTTGGCTTAAGAAATCCATAGGCCTCTCTTGGTGACACATCTCTAGTACTTTTTGTCATAAACAAACAGGCCATCTGCCGCCAAATACATCCACTCCCCATGCCACTGACATCCTATGGGTCAGCCAGGCTTGCTTTGACTGAGGCCGAGGCATCTGGAACTTTCTCTGCCTGCAGGGGCTAGCAGCAGAGGCTTCACCGCATCACCACCCCTTCCTCCACTCCTGACATTCTTTCCCTTCAGGGATCCAAAATGGTTGGCCGAGCTCCCAGTGGGAAAACGTGTGCTAGAGTTGGGGAGTGAGATGAGTGGTGCTGTCCATGGAATCAGGCCACAGCAGGAACTGCCCCACTGGCCATTTGAGACACACACAGGTGGTAAATGCTCTGCTGGTGGGCTGTGCTTCCCTCATTCAGAGAGCTCTGTTACAGCCCACTGTGTCCTTTAGAAGCTTGAAAGGAACCCAACTCTTTGCTGCACTGTCCTTTTTCTTCCTCAAATTCAGACCCTCCTTCCACCGGCACCCCCCTACTCCACCCTCAGCTCTTCCTTGCCTGGTTTATCAAGCAGAGCTGAGGCCCCACGTTTCCAACTCTGATTGTCACTTGCATCTTCACAAAGGATAAACCACGGAGCAACTGGAAAACCATCAGCCAAGCGTTCGGATGAGTCTGGTTATTGGTCCACCCCCGACCAGATTCCCTTACACTTAACTCACTTCTTTCTTTGGCAATGACCCTCATGACATGTATAAATGGGTATGACTAAGAAGAGGCTGTGATCTAACATTTATTTGCTGCCATTTTTTACTCTGGGGAGAAGCAGCCCCAACTCATCACTGGGAAAGAACTCCCCCTGCAAACCAGCTAAATTTGATAATTTAAACCCCCTGCCCCTAAAACTTCTCACAGAGCTGGGGAGTTGGTGGCAACTTTCCAAGTCAAGGTCTTGCTTAGAAAGTCCTTCACTACATGGCCAGGTGCAGTGGCTCACGCCTGTAGTCCCAGGTACTTGGGAGCCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGGCTGCAGAGAGCTATGATCATCCCACTGCATTTGTTTAAAAATAAATTTTTAAAATTTGTGTGTTTTATCAGGGGTCTCCTGTACAGTGTATCTGTGTATGTTTGTGTGTGTGTTTGTATACAGCCTTGTTTAATGTTTTGAGCAATAAGATATGCACACACAGGTATTTTGTTGCTAAAGAGATTGGACAAGGTTGTAGCTGTGCTCAGGCTTCAGCTTGGTTTGTTAAATTGAGAGATAAACAATGACAAGAGCTGCCAGCCAACCACACTATTCAAAAAGCAAAGTGTTCACCACTAAAGCTAACCATTCATCTGGTTGCAGGCAAGGCTAAGGCTCTCTCTCCTCTAGTTCCTGGAACAGACTCACAGATTGGCATGAAGCACTGATCAGGGGCTGCACTCAGACTCCCTGGCCAAGCAAACCTACACCAGAAGAGTCAGTGTCACAGATATGATGCGGCCAATCTCTGTCTCCAAAAACCTACCTGAACTTAATGGTAGAATTCAAAGATCTGGGGACTGAGGGCACCCAGCCTTCTAAAACACAATGTATTCATGTGTTTAGTGTAAACTCTCTGCATGGATTCTCAGTGTTAATAATAAAAGGAAGCATTCTTTTACAACTCCTGCTGTGTGCAAAAGAAAGTGCAAAGGATTTGGAGTGGCATTCCGAAGATCACCACACATACCTTGGTTCTGATGGCTGCTGAACTCCGACTTCTTCGCTGAGACATGACTGTGGGAACAGCCTCCAGCTATCTGCTCATCAGAGGTGCTTTCCTCAACCTCCTGCACCACCTCCAAGAGAAACAGCCTAAAAAGAAACCCCAGCTGTTTACTTATATTGGTCTGTAAATCCCTGGAAGTAAACCCCATGCATTTTTATCTACTGTCTGAGGACATACAATAAATCTGAGAAAGTC)$ . 11BR038 ENSG00000173065.13 ENSG00000161381.14 -/- -/- chr17:28834293 chr17:39139832 5'UTR/splice-site CDS/splice-site duplication 2 2 0 20 60 high . . . . . ENSG00000173065.13 ENSG00000161381.14 ENST00000577682.5 ENST00000315392.9 upstream downstream . ^(AGTCCCCACAGCTGCGCCGGTGACTGAGGGGCC)GGGCAGTGGAGAAGTGGTGGCGGCGGGCGGCGGGCGGCAAAGGAGCAGCCATGAGGGCCGGGCCCAGTCACCGACC___GTGCTGAGGAGTCATGGAAGAGTTTTTAAACCAG|GTCACGATGAGGGCCCAGGCTCTGGATGGGCTGCCAAAGGGACCGTGCGGGGCTGGAACCGGAGAGCCCGAGAGAGCCCTGGGCATGTGTCAGAGCCGGACAGGACCCAGCTGAGCCAGGACCTGGGTGGGGGCACCCTGGCCATGGACACGCTGCCAGATAACAGGACCAGGGTGGTG___GAGGACAACCACA(GCTATTATGTGTCCCGTCTCTATGGCCCCAGCGAGCCCCACAGCCGGGAACTGTGGGTAGATGTGGCCGAGGCCAACCGGAGCCAAGTGAAGATCCACACAATACTCTCCAACACCCACCGGCAGGCTTCG___AGAGTGGTCTTGTCCTTTGATTTCCCTTTCTACGGGCATCCTCTGCGGCAGATCACCATAGCAACTGGAG___GCTTCATCTTCATGGGGGACGTGATCCATCGGATGCTCACAGCTACTCAGTATGTGGCGCCCCTGATGGCCAACTTCAACCCTGGCTACTCCGACAACTCCACAGTTGTTTACTTTGACAATG___GGACAGTCTTTGTGGTTCAGTGGGACCACGTTTATCTCCAAGGCTGGGAAGACAAGGGCAGTTTCACCTTCCAGGCAGCTCTGCACCATGACGGCCGCATTGTCTTTGCCTATAAAGAG___ATCCCTATGTCTGTCCCGGAAATCAGCTCCTCCCAGCATCCTGTCAAAACCGGCCTATCGGATGCCTTCATGATTCTCAATCCATCCCCGGATGTGCCAG___AATCTCGGCGAAGGAGCATCTTTGAATATCACCGCATAGAGCTGGACCCCAGCAAGGTCACCAGCATGTCGGCCGTGGAGTTCACCCCATTGCCGA___CCTGCCTGCAGCATAGGAGCTGTGACGCCTGCATGTCCTCAGACCTGACCTTCAACTGCAGCTGGTGCCATGTCCTCCAGAG___ATGCTCCAGTGGCTTTGACCGCTATCGCCAGGAGTGGATGGACTATGGCTGTGCACAGGAG___GCAGAGGGCAGGATGTGCGAGGACTTCCAGGATGAGGACCACGACTCAGCCTCCCCTGACACTTCCTTCAGCCCCTATGATGGAGACCTCACCACTACCTCCTCCTCCCTCTTCATCGACAGCCTCACCACAGAAG___ATGACACCAAGTTGAATCCCTATGCAGGAGGAGACG___GCCTTCAGAACAACCTGTCCCCCAAGACAAAGGGCACTCCTGTGCACCTGGGCACCATCGTGGGCATCGTGCTGGCAGTCCTCCTCGTGGCGGCCATCATCCTGGCTGGAATTTACATCAATGGCCACCCCACATCCAATGCTGCGCTCTTCTTCATCGAG___CGTAGACCTCACCACTGGCCAGCCATGAAGTTTCGCAGCCACCCTGACCATTCCACCTATGCGGAGGTGGAGCCCTCGGGCCATGAGAAGGAGGGCTTCATGGAGGCTGAGCAGTGCTGAGAACACCAAGTCTCCCCTTTGAAGACTTTGAGGCCACAGAAAAGACAGTTAAAGCAAAGAAGAGAAGTGACTTTTCCTGGCCTCTCCCAGCATGCCCTGGGCTGAGATGAGATGGTGGTTTATGGCTCCAGAGCTGCTGCTCGCTTCGTCAGCACACCCCGAATATTGAAGAGGGGGCCAAAAAACAACCACATGGATTTTTTATAGGAACAACAACCTAATCTCATCCTGTTTTGATGCAAGGGTTCTCTTCTGTGTCTTGTAACCATGAAACAGCAGAAGAACTAACATAACTAACTCCATTTTTGTTTAAGGGGCCTTTACCTATTCCTGCACCTAGGCTAGGATAACTTTAGAGCACTGACATAAAACGCAAAAACAGGAATCATGCCGTTTGCAAAACTAACTCTGGGATTAAAGGGGAAGCATGTAAACAGCTAACTGTTTTTGTTAAAGATTTATAGGAATGAGGAGGTTTGGCTATTGTCACATGACAGACTGTTAGCCAAGGACAAAGAAGTTCTGCAAACCTCCCCTGGACCCTTGCTGGTGTCCAGATGTCTGCGGTTGTCAGCCCCTTCCTTTCCCCCGACCTAAACATAAAAGACAAGGCAAAGCCCGCATAATTTTAAGACGGTTCTTTAGGACATTAGTCCACCATCTTCTTGGTTTGCTGGCTCTCCGAAATAAAGTCCCTTTCCTTGCTCCAACTCCTTGTCTCTCAACGTATTGGCTATGACGCAGCAAGCAGAATGAATTTGGACTCAGTTACAGGCTGTCAATGGTCTGCTCTGTAGCAGTCTCAGAGCCTCCCCGACCCACTACCTGGAGATAGCCAGATAGCCAGATGCCCTGCTCCTGGCCACCTTTAAAGCCCCTGCATATGACACAGGTTAACTAAAGTCAAGATTGGGGCTGCTGCATTCCAGGTTCCCTAGACTCACAAGCTGGTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAAGTCAGAAGTTTGAGACCAGCCTGGCCAACATAATTAAAATGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGACGCTTGCCTGTATCCCAGCTACTCAGGAAGCTGAGACACGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTCAGATAGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAAGCAGATCCTCATGGCTATAGAGTTGGCATTTTAGCCCCAGCTTCTGTAGCTCTGAAAGCCTAAAGAAGGTATTCTCTCCATCTGTTAAACACAGTATAGTGGCTCTCAGCCCTTGGGGCATGTTATCATGGGAGGGAAGTCAAATAAGAGGAGAGAAAAGAACTCAAGGGGGAAACTGCATTTTTAGGCTTTGCTCTCTTACCTTGCCCTTTCTACTCAGAACCAATAACTTCTGCATCAAAACATGTTACAGCCTGCATCAAGGGCTTTACCCCAACCTGCAGCCCAGCCTTCCCTGGGTGAGCTTGCTATGCGCAGCCACATTTACCATGTGGGGCTCCCTATTCTGATGGCCTGTTCGGTGCCGGGTTTACTCACTGCCCTGTTCTGATGTCAGTGCCTGTACATACCTCCAAAGGCAGGACTTGCCTGATAAATATTTTTCCTCCTCTGAACTGGATTTTATAGGCATTAAAGACAAGTCGGGTGGCTAGAGGGCTCCTTGAGACATACCTAGCAGGGAACTGCAGGTGGATTCTGTTGAGAGGCAAAGCACCTGAGTGGTTGGGACACAGGCAGCTGGCATGGGAGGGACTTTTTTTGAGACAGGGTCTCACTGTGTCGCCCAGGGCAAGGATGCCCAAAGACACCAGGTTGGAGAGGCACCTGCCAACTACTTGCTTTCCCTGGAGCCTGCATGTGCCTGTGGGGTGGGGAGGCGTAGGGGTCTACGGCTGCCTGAGATGGGTGTGCACAGTGTGTGAAGTACCTACCTCCTTGCCTTGCTGGACTGTCAGCCAGTCGCAGGGCCGGCCACAAGACCCATGTCTCCATCTGGTCATACTCCATAGCTACCAAGTTAACCTGCTCTAAACTTTGGAGAACTGGATCTGTCCAATAAACGCTTATTTGGCCAAGCCTGATGGCTCGTGCCTGTACTCCCAGCACTTTGGGAGGCTGAGGTGGGAGGGTTGCTTGAGCCCAGGGGTTTGAGACCAGCTTGGGCAACAACAACAAAAATGCCAGGTGTGGTGGGGTGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGCCAGGAGGATCACTTGAGCCCGGGAGGTTGAGGCTGCAGTGGGGGGTCATAATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCCGAAAAAAAAAAAAAAAAAAAGAACGGAAAAAGAAATGCTTACATTGTCAGGGATCCTGTAGACAATCATTAACTCTATGAGATGCTTGGTTCTATTTTTTTGGGAGACTTTGTCCAAGTGTTTTGGCTTAAGAAATCCATAGGCCTCTCTTGGTGACACATCTCTAGTACTTTTTGTCATAAACAAACAGGCCATCTGCCGCCAAATACATCCACTCCCCATGCCACTGACATCCTATGGGTCAGCCAGGCTTGCTTTGACTGAGGCCGAGGCATCTGGAACTTTCTCTGCCTGCAGGGGCTAGCAGCAGAGGCTTCACCGCATCACCACCCCTTCCTCCACTCCTGACATTCTTTCCCTTCAGGGATCCAAAATGGTTGGCCGAGCTCCCAGTGGGAAAACGTGTGCTAGAGTTGGGGAGTGAGATGAGTGGTGCTGTCCATGGAATCAGGCCACAGCAGGAACTGCCCCACTGGCCATTTGAGACACACACAGGTGGTAAATGCTCTGCTGGTGGGCTGTGCTTCCCTCATTCAGAGAGCTCTGTTACAGCCCACTGTGTCCTTTAGAAGCTTGAAAGGAACCCAACTCTTTGCTGCACTGTCCTTTTTCTTCCTCAAATTCAGACCCTCCTTCCACCGGCACCCCCCTACTCCACCCTCAGCTCTTCCTTGCCTGGTTTATCAAGCAGAGCTGAGGCCCCACGTTTCCAACTCTGATTGTCACTTGCATCTTCACAAAGGATAAACCACGGAGCAACTGGAAAACCATCAGCCAAGCGTTCGGATGAGTCTGGTTATTGGTCCACCCCCGACCAGATTCCCTTACACTTAACTCACTTCTTTCTTTGGCAATGACCCTCATGACATGTATAAATGGGTATGACTAAGAAGAGGCTGTGATCTAACATTTATTTGCTGCCATTTTTTACTCTGGGGAGAAGCAGCCCCAACTCATCACTGGGAAAGAACTCCCCCTGCAAACCAGCTAAATTTGATAATTTAAACCCCCTGCCCCTAAAACTTCTCACAGAGCTGGGGAGTTGGTGGCAACTTTCCAAGTCAAGGTCTTGCTTAGAAAGTCCTTCACTACATGGCCAGGTGCAGTGGCTCACGCCTGTAGTCCCAGGTACTTGGGAGCCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGGCTGCAGAGAGCTATGATCATCCCACTGCATTTGTTTAAAAATAAATTTTTAAAATTTGTGTGTTTTATCAGGGGTCTCCTGTACAGTGTATCTGTGTATGTTTGTGTGTGTGTTTGTATACAGCCTTGTTTAATGTTTTGAGCAATAAGATATGCACACACAGGTATTTTGTTGCTAAAGAGATTGGACAAGGTTGTAGCTGTGCTCAGGCTTCAGCTTGGTTTGTTAAATTGAGAGATAAACAATGACAAGAGCTGCCAGCCAACCACACTATTCAAAAAGCAAAGTGTTCACCACTAAAGCTAACCATTCATCTGGTTGCAGGCAAGGCTAAGGCTCTCTCTCCTCTAGTTCCTGGAACAGACTCACAGATTGGCATGAAGCACTGATCAGGGGCTGCACTCAGACTCCCTGGCCAAGCAAACCTACACCAGAAGAGTCAGTGTCACAGATATGATGCGGCCAATCTCTGTCTCCAAAAACCTACCTGAACTTAATGGTAGAATTCAAAGATCTGGGGACTGAGGGCACCCAGCCTTCTAAAACACAATGTATTCATGTGTTTAGTGTAAACTCTCTGCATGGATTCTCAGTGTTAATAATAAAAGGAAGCATTCTTTTACAACTCCTGCTGTGTGCAAAAGAAAGTGCAAAGGATTTGGAGTGGCATTCCGAAGATCACCACACATACCTTGGTTCTGATGGCTGCTGAACTCCGACTTCTTCGCTGAGACATGACTGTGGGAACAGCCTCCAGCTATCTGCTCATCAGAGGTGCTTTCCTCAACCTCCTGCACCACCTCCAAGAGAAACAGCCTAAAAAGAAACCCCAGCTGTTTACTTATATTGGTCTGTAAATCCCTGGAAGTAAACCCCATGCATTTTTATCTACTGTCTGAGGACATACAATAAATCTGAGAAAGTC)$ . 11BR038 ENSG00000173065.13 ENSG00000161381.14 -/- -/- chr17:28842682 chr17:39139832 5'UTR/splice-site CDS/splice-site duplication 0 9 0 34 60 medium . . . . . ENSG00000173065.13 ENSG00000161381.14 ENST00000581407.5 ENST00000315392.9 upstream downstream . ^(ACACGCTGCGCAGGCGCAGGAGCGGCTCCGGGTAGTCCCCACAGCTGCGCCGGTGACTGAGGGGCCG)GGCAGTGGAGAAGTGGTGGCGGCGGGCGGCGGGCGGCAAAGGAGCAGCCATGAGGGCCGGGCCCAGTCACCGACC|GTCACGATGAGGGCCCAGGCTCTGGATGGGCTGCCAAAGGGACCGTGCGGGGCTGGAACCGGAGAGCCCGAGAGAGCCCTGGGCATGTGTCAGAGCCGGACAGGACCCAGCTGAGCCAGGACCTGGGTGGGGGCACCCTGGCCATGGACACGCTGCCAGATAACAGGACCAGGGTGGTG___GAGGACAACCACAGCTATTATGTGTCCCGTCTCTATGGCCCCAGCGAGCCCCACAGCCGGGAACTGTGGGTAGATGTGGCCGAGGCCAACCGGAGCCAAGTGAAGATCCACACAATACTCTCCAACACCCACCGGCAGGCTTCG___AGAGTG(GTCTTGTCCTTTGATTTCCCTTTCTACGGGCATCCTCTGCGGCAGATCACCATAGCAACTGGAG___GCTTCATCTTCATGGGGGACGTGATCCATCGGATGCTCACAGCTACTCAGTATGTGGCGCCCCTGATGGCCAACTTCAACCCTGGCTACTCCGACAACTCCACAGTTGTTTACTTTGACAATG___GGACAGTCTTTGTGGTTCAGTGGGACCACGTTTATCTCCAAGGCTGGGAAGACAAGGGCAGTTTCACCTTCCAGGCAGCTCTGCACCATGACGGCCGCATTGTCTTTGCCTATAAAGAG___ATCCCTATGTCTGTCCCGGAAATCAGCTCCTCCCAGCATCCTGTCAAAACCGGCCTATCGGATGCCTTCATGATTCTCAATCCATCCCCGGATGTGCCAG___AATCTCGGCGAAGGAGCATCTTTGAATATCACCGCATAGAGCTGGACCCCAGCAAGGTCACCAGCATGTCGGCCGTGGAGTTCACCCCATTGCCGA___CCTGCCTGCAGCATAGGAGCTGTGACGCCTGCATGTCCTCAGACCTGACCTTCAACTGCAGCTGGTGCCATGTCCTCCAGAG___ATGCTCCAGTGGCTTTGACCGCTATCGCCAGGAGTGGATGGACTATGGCTGTGCACAGGAG___GCAGAGGGCAGGATGTGCGAGGACTTCCAGGATGAGGACCACGACTCAGCCTCCCCTGACACTTCCTTCAGCCCCTATGATGGAGACCTCACCACTACCTCCTCCTCCCTCTTCATCGACAGCCTCACCACAGAAG___ATGACACCAAGTTGAATCCCTATGCAGGAGGAGACG___GCCTTCAGAACAACCTGTCCCCCAAGACAAAGGGCACTCCTGTGCACCTGGGCACCATCGTGGGCATCGTGCTGGCAGTCCTCCTCGTGGCGGCCATCATCCTGGCTGGAATTTACATCAATGGCCACCCCACATCCAATGCTGCGCTCTTCTTCATCGAG___CGTAGACCTCACCACTGGCCAGCCATGAAGTTTCGCAGCCACCCTGACCATTCCACCTATGCGGAGGTGGAGCCCTCGGGCCATGAGAAGGAGGGCTTCATGGAGGCTGAGCAGTGCTGAGAACACCAAGTCTCCCCTTTGAAGACTTTGAGGCCACAGAAAAGACAGTTAAAGCAAAGAAGAGAAGTGACTTTTCCTGGCCTCTCCCAGCATGCCCTGGGCTGAGATGAGATGGTGGTTTATGGCTCCAGAGCTGCTGCTCGCTTCGTCAGCACACCCCGAATATTGAAGAGGGGGCCAAAAAACAACCACATGGATTTTTTATAGGAACAACAACCTAATCTCATCCTGTTTTGATGCAAGGGTTCTCTTCTGTGTCTTGTAACCATGAAACAGCAGAAGAACTAACATAACTAACTCCATTTTTGTTTAAGGGGCCTTTACCTATTCCTGCACCTAGGCTAGGATAACTTTAGAGCACTGACATAAAACGCAAAAACAGGAATCATGCCGTTTGCAAAACTAACTCTGGGATTAAAGGGGAAGCATGTAAACAGCTAACTGTTTTTGTTAAAGATTTATAGGAATGAGGAGGTTTGGCTATTGTCACATGACAGACTGTTAGCCAAGGACAAAGAAGTTCTGCAAACCTCCCCTGGACCCTTGCTGGTGTCCAGATGTCTGCGGTTGTCAGCCCCTTCCTTTCCCCCGACCTAAACATAAAAGACAAGGCAAAGCCCGCATAATTTTAAGACGGTTCTTTAGGACATTAGTCCACCATCTTCTTGGTTTGCTGGCTCTCCGAAATAAAGTCCCTTTCCTTGCTCCAACTCCTTGTCTCTCAACGTATTGGCTATGACGCAGCAAGCAGAATGAATTTGGACTCAGTTACAGGCTGTCAATGGTCTGCTCTGTAGCAGTCTCAGAGCCTCCCCGACCCACTACCTGGAGATAGCCAGATAGCCAGATGCCCTGCTCCTGGCCACCTTTAAAGCCCCTGCATATGACACAGGTTAACTAAAGTCAAGATTGGGGCTGCTGCATTCCAGGTTCCCTAGACTCACAAGCTGGTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAAGTCAGAAGTTTGAGACCAGCCTGGCCAACATAATTAAAATGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGACGCTTGCCTGTATCCCAGCTACTCAGGAAGCTGAGACACGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTCAGATAGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAAGCAGATCCTCATGGCTATAGAGTTGGCATTTTAGCCCCAGCTTCTGTAGCTCTGAAAGCCTAAAGAAGGTATTCTCTCCATCTGTTAAACACAGTATAGTGGCTCTCAGCCCTTGGGGCATGTTATCATGGGAGGGAAGTCAAATAAGAGGAGAGAAAAGAACTCAAGGGGGAAACTGCATTTTTAGGCTTTGCTCTCTTACCTTGCCCTTTCTACTCAGAACCAATAACTTCTGCATCAAAACATGTTACAGCCTGCATCAAGGGCTTTACCCCAACCTGCAGCCCAGCCTTCCCTGGGTGAGCTTGCTATGCGCAGCCACATTTACCATGTGGGGCTCCCTATTCTGATGGCCTGTTCGGTGCCGGGTTTACTCACTGCCCTGTTCTGATGTCAGTGCCTGTACATACCTCCAAAGGCAGGACTTGCCTGATAAATATTTTTCCTCCTCTGAACTGGATTTTATAGGCATTAAAGACAAGTCGGGTGGCTAGAGGGCTCCTTGAGACATACCTAGCAGGGAACTGCAGGTGGATTCTGTTGAGAGGCAAAGCACCTGAGTGGTTGGGACACAGGCAGCTGGCATGGGAGGGACTTTTTTTGAGACAGGGTCTCACTGTGTCGCCCAGGGCAAGGATGCCCAAAGACACCAGGTTGGAGAGGCACCTGCCAACTACTTGCTTTCCCTGGAGCCTGCATGTGCCTGTGGGGTGGGGAGGCGTAGGGGTCTACGGCTGCCTGAGATGGGTGTGCACAGTGTGTGAAGTACCTACCTCCTTGCCTTGCTGGACTGTCAGCCAGTCGCAGGGCCGGCCACAAGACCCATGTCTCCATCTGGTCATACTCCATAGCTACCAAGTTAACCTGCTCTAAACTTTGGAGAACTGGATCTGTCCAATAAACGCTTATTTGGCCAAGCCTGATGGCTCGTGCCTGTACTCCCAGCACTTTGGGAGGCTGAGGTGGGAGGGTTGCTTGAGCCCAGGGGTTTGAGACCAGCTTGGGCAACAACAACAAAAATGCCAGGTGTGGTGGGGTGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGCCAGGAGGATCACTTGAGCCCGGGAGGTTGAGGCTGCAGTGGGGGGTCATAATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCCGAAAAAAAAAAAAAAAAAAAGAACGGAAAAAGAAATGCTTACATTGTCAGGGATCCTGTAGACAATCATTAACTCTATGAGATGCTTGGTTCTATTTTTTTGGGAGACTTTGTCCAAGTGTTTTGGCTTAAGAAATCCATAGGCCTCTCTTGGTGACACATCTCTAGTACTTTTTGTCATAAACAAACAGGCCATCTGCCGCCAAATACATCCACTCCCCATGCCACTGACATCCTATGGGTCAGCCAGGCTTGCTTTGACTGAGGCCGAGGCATCTGGAACTTTCTCTGCCTGCAGGGGCTAGCAGCAGAGGCTTCACCGCATCACCACCCCTTCCTCCACTCCTGACATTCTTTCCCTTCAGGGATCCAAAATGGTTGGCCGAGCTCCCAGTGGGAAAACGTGTGCTAGAGTTGGGGAGTGAGATGAGTGGTGCTGTCCATGGAATCAGGCCACAGCAGGAACTGCCCCACTGGCCATTTGAGACACACACAGGTGGTAAATGCTCTGCTGGTGGGCTGTGCTTCCCTCATTCAGAGAGCTCTGTTACAGCCCACTGTGTCCTTTAGAAGCTTGAAAGGAACCCAACTCTTTGCTGCACTGTCCTTTTTCTTCCTCAAATTCAGACCCTCCTTCCACCGGCACCCCCCTACTCCACCCTCAGCTCTTCCTTGCCTGGTTTATCAAGCAGAGCTGAGGCCCCACGTTTCCAACTCTGATTGTCACTTGCATCTTCACAAAGGATAAACCACGGAGCAACTGGAAAACCATCAGCCAAGCGTTCGGATGAGTCTGGTTATTGGTCCACCCCCGACCAGATTCCCTTACACTTAACTCACTTCTTTCTTTGGCAATGACCCTCATGACATGTATAAATGGGTATGACTAAGAAGAGGCTGTGATCTAACATTTATTTGCTGCCATTTTTTACTCTGGGGAGAAGCAGCCCCAACTCATCACTGGGAAAGAACTCCCCCTGCAAACCAGCTAAATTTGATAATTTAAACCCCCTGCCCCTAAAACTTCTCACAGAGCTGGGGAGTTGGTGGCAACTTTCCAAGTCAAGGTCTTGCTTAGAAAGTCCTTCACTACATGGCCAGGTGCAGTGGCTCACGCCTGTAGTCCCAGGTACTTGGGAGCCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGGCTGCAGAGAGCTATGATCATCCCACTGCATTTGTTTAAAAATAAATTTTTAAAATTTGTGTGTTTTATCAGGGGTCTCCTGTACAGTGTATCTGTGTATGTTTGTGTGTGTGTTTGTATACAGCCTTGTTTAATGTTTTGAGCAATAAGATATGCACACACAGGTATTTTGTTGCTAAAGAGATTGGACAAGGTTGTAGCTGTGCTCAGGCTTCAGCTTGGTTTGTTAAATTGAGAGATAAACAATGACAAGAGCTGCCAGCCAACCACACTATTCAAAAAGCAAAGTGTTCACCACTAAAGCTAACCATTCATCTGGTTGCAGGCAAGGCTAAGGCTCTCTCTCCTCTAGTTCCTGGAACAGACTCACAGATTGGCATGAAGCACTGATCAGGGGCTGCACTCAGACTCCCTGGCCAAGCAAACCTACACCAGAAGAGTCAGTGTCACAGATATGATGCGGCCAATCTCTGTCTCCAAAAACCTACCTGAACTTAATGGTAGAATTCAAAGATCTGGGGACTGAGGGCACCCAGCCTTCTAAAACACAATGTATTCATGTGTTTAGTGTAAACTCTCTGCATGGATTCTCAGTGTTAATAATAAAAGGAAGCATTCTTTTACAACTCCTGCTGTGTGCAAAAGAAAGTGCAAAGGATTTGGAGTGGCATTCCGAAGATCACCACACATACCTTGGTTCTGATGGCTGCTGAACTCCGACTTCTTCGCTGAGACATGACTGTGGGAACAGCCTCCAGCTATCTGCTCATCAGAGGTGCTTTCCTCAACCTCCTGCACCACCTCCAAGAGAAACAGCCTAAAAAGAAACCCCAGCTGTTTACTTATATTGGTCTGTAAATCCCTGGAAGTAAACCCCATGCATTTTTATCTACTGTCTGAGGACATACAATAAATCTGAGAAAGTC)$ . 11BR038 ENSG00000173065.13 ENSG00000161381.14 -/- -/- chr17:28790378 chr17:39109391 5'UTR/splice-site CDS/splice-site duplication 1 1 0 15 146 medium . . . . . ENSG00000173065.13 ENSG00000161381.14 ENST00000452648.7 ENST00000315392.9 upstream downstream . ^(AGCCGGCTGGGGGAGGGGGTGTCGGCGCACCGCGGAGTCCTGCGCTCCGTGAGCCTGGCACCCGGAGCAGCCGCCTCCCCCTCCCCCTGCCTAGACCGCTAGAAGCCCCCTCTCTTCCATCCTCCCGGGGCGGGGGTGA)GCTGGGCTCAGCTGCCCAAGGCGGGCGGGGCGGAGCCAGGAGCCCCACGGAGCGCTGCGGAGCGAACCTCACCTTTCCAGGGCGCAAG___GAATATCACAGGAGTGATGCTGTGTTCTTCACTGCATGATTTCAAAAG|GAGGACAACCACAGCTATTATGTGTCCCGTCTCTATGGCCCCAGCGAGCCCCACAGCCGGGAACTGTGGGTAGATGTGGCCGAGGCCAACCGGAGCC(AAGTGAAGATCCACACAATACTCTCCAACACCCACCGGCAGGCTTCG___AGAGTGGTCTTGTCCTTTGATTTCCCTTTCTACGGGCATCCTCTGCGGCAGATCACCATAGCAACTGGAG___GCTTCATCTTCATGGGGGACGTGATCCATCGGATGCTCACAGCTACTCAGTATGTGGCGCCCCTGATGGCCAACTTCAACCCTGGCTACTCCGACAACTCCACAGTTGTTTACTTTGACAATG___GGACAGTCTTTGTGGTTCAGTGGGACCACGTTTATCTCCAAGGCTGGGAAGACAAGGGCAGTTTCACCTTCCAGGCAGCTCTGCACCATGACGGCCGCATTGTCTTTGCCTATAAAGAG___ATCCCTATGTCTGTCCCGGAAATCAGCTCCTCCCAGCATCCTGTCAAAACCGGCCTATCGGATGCCTTCATGATTCTCAATCCATCCCCGGATGTGCCAG___AATCTCGGCGAAGGAGCATCTTTGAATATCACCGCATAGAGCTGGACCCCAGCAAGGTCACCAGCATGTCGGCCGTGGAGTTCACCCCATTGCCGA___CCTGCCTGCAGCATAGGAGCTGTGACGCCTGCATGTCCTCAGACCTGACCTTCAACTGCAGCTGGTGCCATGTCCTCCAGAG___ATGCTCCAGTGGCTTTGACCGCTATCGCCAGGAGTGGATGGACTATGGCTGTGCACAGGAG___GCAGAGGGCAGGATGTGCGAGGACTTCCAGGATGAGGACCACGACTCAGCCTCCCCTGACACTTCCTTCAGCCCCTATGATGGAGACCTCACCACTACCTCCTCCTCCCTCTTCATCGACAGCCTCACCACAGAAG___ATGACACCAAGTTGAATCCCTATGCAGGAGGAGACG___GCCTTCAGAACAACCTGTCCCCCAAGACAAAGGGCACTCCTGTGCACCTGGGCACCATCGTGGGCATCGTGCTGGCAGTCCTCCTCGTGGCGGCCATCATCCTGGCTGGAATTTACATCAATGGCCACCCCACATCCAATGCTGCGCTCTTCTTCATCGAG___CGTAGACCTCACCACTGGCCAGCCATGAAGTTTCGCAGCCACCCTGACCATTCCACCTATGCGGAGGTGGAGCCCTCGGGCCATGAGAAGGAGGGCTTCATGGAGGCTGAGCAGTGCTGAGAACACCAAGTCTCCCCTTTGAAGACTTTGAGGCCACAGAAAAGACAGTTAAAGCAAAGAAGAGAAGTGACTTTTCCTGGCCTCTCCCAGCATGCCCTGGGCTGAGATGAGATGGTGGTTTATGGCTCCAGAGCTGCTGCTCGCTTCGTCAGCACACCCCGAATATTGAAGAGGGGGCCAAAAAACAACCACATGGATTTTTTATAGGAACAACAACCTAATCTCATCCTGTTTTGATGCAAGGGTTCTCTTCTGTGTCTTGTAACCATGAAACAGCAGAAGAACTAACATAACTAACTCCATTTTTGTTTAAGGGGCCTTTACCTATTCCTGCACCTAGGCTAGGATAACTTTAGAGCACTGACATAAAACGCAAAAACAGGAATCATGCCGTTTGCAAAACTAACTCTGGGATTAAAGGGGAAGCATGTAAACAGCTAACTGTTTTTGTTAAAGATTTATAGGAATGAGGAGGTTTGGCTATTGTCACATGACAGACTGTTAGCCAAGGACAAAGAAGTTCTGCAAACCTCCCCTGGACCCTTGCTGGTGTCCAGATGTCTGCGGTTGTCAGCCCCTTCCTTTCCCCCGACCTAAACATAAAAGACAAGGCAAAGCCCGCATAATTTTAAGACGGTTCTTTAGGACATTAGTCCACCATCTTCTTGGTTTGCTGGCTCTCCGAAATAAAGTCCCTTTCCTTGCTCCAACTCCTTGTCTCTCAACGTATTGGCTATGACGCAGCAAGCAGAATGAATTTGGACTCAGTTACAGGCTGTCAATGGTCTGCTCTGTAGCAGTCTCAGAGCCTCCCCGACCCACTACCTGGAGATAGCCAGATAGCCAGATGCCCTGCTCCTGGCCACCTTTAAAGCCCCTGCATATGACACAGGTTAACTAAAGTCAAGATTGGGGCTGCTGCATTCCAGGTTCCCTAGACTCACAAGCTGGTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAAGTCAGAAGTTTGAGACCAGCCTGGCCAACATAATTAAAATGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGACGCTTGCCTGTATCCCAGCTACTCAGGAAGCTGAGACACGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTCAGATAGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAAGCAGATCCTCATGGCTATAGAGTTGGCATTTTAGCCCCAGCTTCTGTAGCTCTGAAAGCCTAAAGAAGGTATTCTCTCCATCTGTTAAACACAGTATAGTGGCTCTCAGCCCTTGGGGCATGTTATCATGGGAGGGAAGTCAAATAAGAGGAGAGAAAAGAACTCAAGGGGGAAACTGCATTTTTAGGCTTTGCTCTCTTACCTTGCCCTTTCTACTCAGAACCAATAACTTCTGCATCAAAACATGTTACAGCCTGCATCAAGGGCTTTACCCCAACCTGCAGCCCAGCCTTCCCTGGGTGAGCTTGCTATGCGCAGCCACATTTACCATGTGGGGCTCCCTATTCTGATGGCCTGTTCGGTGCCGGGTTTACTCACTGCCCTGTTCTGATGTCAGTGCCTGTACATACCTCCAAAGGCAGGACTTGCCTGATAAATATTTTTCCTCCTCTGAACTGGATTTTATAGGCATTAAAGACAAGTCGGGTGGCTAGAGGGCTCCTTGAGACATACCTAGCAGGGAACTGCAGGTGGATTCTGTTGAGAGGCAAAGCACCTGAGTGGTTGGGACACAGGCAGCTGGCATGGGAGGGACTTTTTTTGAGACAGGGTCTCACTGTGTCGCCCAGGGCAAGGATGCCCAAAGACACCAGGTTGGAGAGGCACCTGCCAACTACTTGCTTTCCCTGGAGCCTGCATGTGCCTGTGGGGTGGGGAGGCGTAGGGGTCTACGGCTGCCTGAGATGGGTGTGCACAGTGTGTGAAGTACCTACCTCCTTGCCTTGCTGGACTGTCAGCCAGTCGCAGGGCCGGCCACAAGACCCATGTCTCCATCTGGTCATACTCCATAGCTACCAAGTTAACCTGCTCTAAACTTTGGAGAACTGGATCTGTCCAATAAACGCTTATTTGGCCAAGCCTGATGGCTCGTGCCTGTACTCCCAGCACTTTGGGAGGCTGAGGTGGGAGGGTTGCTTGAGCCCAGGGGTTTGAGACCAGCTTGGGCAACAACAACAAAAATGCCAGGTGTGGTGGGGTGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGCCAGGAGGATCACTTGAGCCCGGGAGGTTGAGGCTGCAGTGGGGGGTCATAATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCCGAAAAAAAAAAAAAAAAAAAGAACGGAAAAAGAAATGCTTACATTGTCAGGGATCCTGTAGACAATCATTAACTCTATGAGATGCTTGGTTCTATTTTTTTGGGAGACTTTGTCCAAGTGTTTTGGCTTAAGAAATCCATAGGCCTCTCTTGGTGACACATCTCTAGTACTTTTTGTCATAAACAAACAGGCCATCTGCCGCCAAATACATCCACTCCCCATGCCACTGACATCCTATGGGTCAGCCAGGCTTGCTTTGACTGAGGCCGAGGCATCTGGAACTTTCTCTGCCTGCAGGGGCTAGCAGCAGAGGCTTCACCGCATCACCACCCCTTCCTCCACTCCTGACATTCTTTCCCTTCAGGGATCCAAAATGGTTGGCCGAGCTCCCAGTGGGAAAACGTGTGCTAGAGTTGGGGAGTGAGATGAGTGGTGCTGTCCATGGAATCAGGCCACAGCAGGAACTGCCCCACTGGCCATTTGAGACACACACAGGTGGTAAATGCTCTGCTGGTGGGCTGTGCTTCCCTCATTCAGAGAGCTCTGTTACAGCCCACTGTGTCCTTTAGAAGCTTGAAAGGAACCCAACTCTTTGCTGCACTGTCCTTTTTCTTCCTCAAATTCAGACCCTCCTTCCACCGGCACCCCCCTACTCCACCCTCAGCTCTTCCTTGCCTGGTTTATCAAGCAGAGCTGAGGCCCCACGTTTCCAACTCTGATTGTCACTTGCATCTTCACAAAGGATAAACCACGGAGCAACTGGAAAACCATCAGCCAAGCGTTCGGATGAGTCTGGTTATTGGTCCACCCCCGACCAGATTCCCTTACACTTAACTCACTTCTTTCTTTGGCAATGACCCTCATGACATGTATAAATGGGTATGACTAAGAAGAGGCTGTGATCTAACATTTATTTGCTGCCATTTTTTACTCTGGGGAGAAGCAGCCCCAACTCATCACTGGGAAAGAACTCCCCCTGCAAACCAGCTAAATTTGATAATTTAAACCCCCTGCCCCTAAAACTTCTCACAGAGCTGGGGAGTTGGTGGCAACTTTCCAAGTCAAGGTCTTGCTTAGAAAGTCCTTCACTACATGGCCAGGTGCAGTGGCTCACGCCTGTAGTCCCAGGTACTTGGGAGCCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGGCTGCAGAGAGCTATGATCATCCCACTGCATTTGTTTAAAAATAAATTTTTAAAATTTGTGTGTTTTATCAGGGGTCTCCTGTACAGTGTATCTGTGTATGTTTGTGTGTGTGTTTGTATACAGCCTTGTTTAATGTTTTGAGCAATAAGATATGCACACACAGGTATTTTGTTGCTAAAGAGATTGGACAAGGTTGTAGCTGTGCTCAGGCTTCAGCTTGGTTTGTTAAATTGAGAGATAAACAATGACAAGAGCTGCCAGCCAACCACACTATTCAAAAAGCAAAGTGTTCACCACTAAAGCTAACCATTCATCTGGTTGCAGGCAAGGCTAAGGCTCTCTCTCCTCTAGTTCCTGGAACAGACTCACAGATTGGCATGAAGCACTGATCAGGGGCTGCACTCAGACTCCCTGGCCAAGCAAACCTACACCAGAAGAGTCAGTGTCACAGATATGATGCGGCCAATCTCTGTCTCCAAAAACCTACCTGAACTTAATGGTAGAATTCAAAGATCTGGGGACTGAGGGCACCCAGCCTTCTAAAACACAATGTATTCATGTGTTTAGTGTAAACTCTCTGCATGGATTCTCAGTGTTAATAATAAAAGGAAGCATTCTTTTACAACTCCTGCTGTGTGCAAAAGAAAGTGCAAAGGATTTGGAGTGGCATTCCGAAGATCACCACACATACCTTGGTTCTGATGGCTGCTGAACTCCGACTTCTTCGCTGAGACATGACTGTGGGAACAGCCTCCAGCTATCTGCTCATCAGAGGTGCTTTCCTCAACCTCCTGCACCACCTCCAAGAGAAACAGCCTAAAAAGAAACCCCAGCTGTTTACTTATATTGGTCTGTAAATCCCTGGAAGTAAACCCCATGCATTTTTATCTACTGTCTGAGGACATACAATAAATCTGAGAAAGTC)$ . 11BR038 ENSG00000140104.14 ENSG00000185100.10(1463),ENSG00000184990.13(4374) +/+ ./- chr14:104986854 chr14:104748773 CDS/splice-site intergenic inversion 5 4 0 31 9 high out-of-frame . . . . ENSG00000140104.14 . ENST00000547315.6 . downstream downstream . ^(AGGCAACGGGGCGGCGCAGGCAGGAGGGAACGGCTGGTTGCAGGTTTCTCTCGCCCTGGTCCCGCGCGGCCCCGCCGAGGCGGCGACCAAGGTGGGTGCGGGGACTCTCGGGAGCCGTGGGCCAGGCGCTTAGCCGGCCACCTCGGGCCCTGTCCAGGCCCAGGCGTTCCAGGGCTGCTCTGCGGGCCGCGTGCGAGAGGGACTCTCGGGAGGCCCCGGGGCGCCGCACCCACTCCTTCCCACTTGGGACTCCCGCGGGCGCCCGGCTCTCGCTCCTCTGGCCAGCGTGGGCCTCCCAGGCCCCCTCGCGGCTCTCTCCAGAGCAGGAGCCCCACCTTGGGCCGCCCCTCTCACACCTGCCGTGGGTCTGGTACGCGCCTCTGTGTCGGACTCCGCGCCCGCCTGCGTGGGAGGAAGCCAGGACTCCCGGGCGACCGGGCCATTCCTGTGGTTTGTGTCAGTTCCACAGCAGCACGTGGGCACTTTCCACCGTCAGCCACTGGGCAGCCCGGGGCACTCCTGCAGCGTCCCCTGGCCCTCTCCAGGGCAGGGGAAGGTTGGGCAGTCCTGGGCGGCCAGCACCCCGGCGTGCATGTCTCCTGAGCAGCTGCCCATCGGGCCTCTGCTGGCCTGGGGGCTCCAAGATGCAAGGCCGGCGGGAGCTGGGGGGAGAGCCTTTGAGTGACCTCCAGGAGGAAGCAGCCAGCGCTTCCCTCCGAGTGGCACCTGAGAGGCTGAGTGATGACAGTTTGGAATGGAGACGGACCTGCCCCGACCTTCTCCTGTCCGATGGGAAAGCCAGCATCTCCATGCCCCGTGAGGGCGGTTCCACCTGCACTGCCCGATGTCCTGACCCTGGGGAACACAGCAGCACTTGGGGGGAGTTTGAAGGCTTT)CGGGAATCTTCAGCCAAGTCTGGACAATTCTCACAGTCCCTTGAACTCCTCGAGGGACCCACAGAACCCCAGCCACCGAGAACCACTTCTGCCCCAAAAGAGTGCAGTTCTCACCAACCATGCCAGGGTGGACCTTGGGTGACAGGAACTTCTGCCGTCCCACCTTCTGAG|AGACCACTCTGACCCCATCTACACTGGGGCTGTGTTATTGATGAAAAGTGGAGAGAGCCCCTTACTATAACCACTCAGACCCTCCAAACATCTGCTACTGAGAAGAAGGGGGTGGAGACCCGAATGATTGACCTGCCTGTCTGCACTAACCCACCGCTCAGACGCCAGAGCCTCTTGTCTCTGGTTCACGTGGAAGTGAGTGAGTTGGTGCTGGGGGAGAAtTATTTCCCCTCTGCGTTGGTGTCTTTTTACCCTGTGAAACGCCTGCCTTCCATCCCGAGAGGAAAGAAAACGATGACAACTTGTGTTCTGGTGGAAGATTTAGC MQGRRELGGEPLSDLQEEAASASLRVAPERLSDDSLEWRRTCPDLLLSDGKASISMPREGGSTCTARCPDPGEHSSTWGEFEGFRESSAKSGQFSQSLELLEGPTEPQPPRTTSAPKECSSHQPCQGGPWVTGTSAVPPSE|rpl* 11BR038 ENSG00000173065.13 ENSG00000171532.5(145),ENSG00000214546.4(11548) -/- ./- chr17:28812209 chr17:39608065 5'UTR/splice-site intergenic duplication 5 3 0 78 38 high . . . . . ENSG00000173065.13 . ENST00000452648.7 . upstream downstream . ^(AGCCGGCTGGGGGAGGGGGTGT)CGGCGCACCGCGGAGTCCTGCGCTCCGTGAGCCTGGCACCCGGAGCAGCCGCCTCCCCCTCCCCCTGCCTAGACCGCTAGAAGCCCCCTCTCTTCCATCCTCCCGGGGCGGGGGTGAGCTGGGCTCAGCTGCCCAAGGCGGGCGGGGCGGAGCCAGGAGCCCCACGGAGCGCTGCGGAGCGAACCTCACCTTTCCAGGGCGCAAG|AGAGTGACAGATGGCGGCGGGTCCCGGGGGAGCCGGCTCTCCCCCAGTGCAGACGCATGCCAATCACCGTCTCTCATGTGATAGCTGCTGCCCGTGACGTGC . 11BR038 ENSG00000154001.14 ENSG00000139915.21 -/- -/+ chr14:63539529 chr14:47523865 CDS/splice-site intron inversion/5'-5' 4 1 1 50 6 high out-of-frame . Protein_phosphatase_2A_regulatory_B_subunit_(B56_family)(100%)| . . ENSG00000154001.14 ENSG00000139915.21 ENST00000337537.8 . upstream upstream . ^(GCTGGCCAGAAGGTTCGGTTGCGCGTGTGCCATGGACTCAGCCGCCCGGTGATATTGACAATAGGAGAGAGAAAGGGGCATTGACTGGGACCCACCGCGGGTAGCGAAAGGTGGCTCTGGCAGCGGCGGCTCCAGCTCCTGCGGCTCCTCCTCCTTATTCTGTCCCCTTCTCTTGCTGCCGCTGCAGATCCAGTCTTCCTCCCTCCCTTCCCCCCCTCCCCACGTCGTCGCCGCCGCCGCCGGGTCCGGGGCAACGAGCTGAGGCGCCGCCCGCCAGGAATGTGAGCGAGGAGCCACCGGCGGAGCCGCAACGGGGTCGGTGCCGATTTGATGGGACGGGCCCGCGGGGGAGGATCGTGAGGCCGCCGCCGCCACCGGAACGCTGAGGTTCGGGTCCGGCCGTGAGGCCTAGAGGCTCCGCCGCCGCGGAACCGGAGGGACCCCGTACCGGACAGCCGTCGCCCCAGGCTCCCCGCAGCTGCCCGGACCTCCCCCTGCACGTCCCGGTCCCGCCGCCCGCCCCCGCTGCGGCCACCTCGCCCGTCTCCCGCCCCTCCAAGCCACAGATCATCTTTGGATTCTTCCCCAGAA)GCTTCAAG___TAGGGATATGTCCTCAGCACCAACTACTCCTCCATCAGTGGATAAAGTAGACGGATTTTCTCGGAAGTCCGTCAGAAAAGCCAGACAGAAGAGGTCGCAAAGTTCCTCACAGTTTAGGTCTCAAGGCAAGCCTATTGAGTTAACACCTCTGCCGCTGCTAAAAG|CAGCTTGCAAGTTGAAAGGTGTATCAAATGGGAACACAGCGTCACAGTTGAAACATTTATTTTCCTCCAAAAACCATCTTCAGGCAGTGGAACTGACAATACTTTCCAGTAATGCTTGAGGGCAAAATCAAGGACAGATAGAACACAACTGAG___GACGACTGGACGGTGATATCTTTGCTCAGCTATTTGGTCTCCCG MSSAPTTPPSVDKVDGFSRKSVRKARQKRSQSSSQFRSQGKPIELTPLPLLK|aacklkgvsngntasqlkhlfssknhlqaveltilssna* 11BR038 ENSG00000108306.13 ENSG00000087095.13 -/- +/+ chr17:39258305 chr17:28163543 3'UTR CDS/splice-site inversion 1 3 1 144 148 high stop-codon . F-box-like(100%),Leucine_Rich_repeat(100%)|Protein_kinase_domain(100%) . . ENSG00000108306.13 ENSG00000087095.13 ENST00000264658.11 ENST00000407008.8 upstream upstream . ^(GGAGAGAGCCGAGCTAGCGACGAGCAGTCGTTGCGGCCGCCGGCGCCGCGGGAGGTGGTGGAGGCCTAGCCGGAGCCGAGAGGTCTCTTGTTCCCGTCCCACGGTCCCGGCGTCACCCCTCCGGCGCCCAGTCCCCGTCCCGGAACTCCCGGGCCTGTCCTGGGCCCCCGGTCTGTGCACTCCGCTCGCCGCAGCGCCCGGCCCGGGCCGCACCCGCCGGCCCCATGAGGAGGGACGTGAACGGAGTGACCAAGAGCAGGTTTGAG___ATGTTCTCAAATAGTGATGAAGCTGTAATCAATAAAAAACTTCCCAAAGAACTCCTGTTACG___GATATTTTCTTTTCTAGATGTTGTTACCCTGTGCCGCTGTGCTCAGGTCTCCAGG___GCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAG___GGCCGAGTAGTGGAGAATATTTCAAAACGATGTGGGGGCTTTTTACGAAAGTTAAGTCTTCGTGGATGTCTTGGAGTGGGAGACAATGCATTAAG___AACCTTTGCACAAAACTGCAGGAACATTGAAGTACTGAATCTAAATGGGTGTACAAAGACAACAGACGC___TACATGTACTAGCCTTAGCAAGTTCTGTTCCAAACTCAGGCACCTTGACTTGGCTTCCTGTACATCAATAACAAACATGTCTCTAAAAGCTCTGAG___TGAGGGATGTCCACTGTTGGAGCAGTTGAACATTTCCTGGTGTGACCAAGTAACCAAGGATGGCATTCAAGCACTAGTGAGGGGCTGTGGGGGTCTCAAGGCCTTATTCTTAAAAGGCTGCACGCAG___CTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTG___CAAATCACAGATGAAGGTCTCATTACTATATGCAGAGGGTGCCATAAGTTACAATCCCTTTGTGCCTCTGGCTGCTCCAACATCACAGATGCCATCCTGAATGCTCTAGGTCAGAACTGCCCACGGCTTAG___AATATTGGAAGTGGCAAGATGTTCTCAATTAACAGATGTGGGCTTTACCACTCTAGCCAGG___AATTGCCATGAACTTGAAAAGATGGACCTGGAAGAGTGTGTTCAG___ATAACAGATAGCACATTAATCCAACTTTCTATACACTGTCCTCGACTTCAAGTATTG___AGTCTGTCTCACTGTGAGCTGATCACAGATGATGGAATTCGTCACCTGGGGAATGGGGCCTGCGCCCATGACCAGCTGGAGGTGATTGAGCTGGACAACTGCCCACTAATCACAGATGCATCCCTGGAGCACTTGAAGAGCTGTCATAGCCTTGAGCGGATAGAACTCTATGACTGCCAGCAAATCACACGGGCTGGAATCAAGAGACTCAGG___ACCCATTTACCCAATATTAAAGTCCACGCCTACTTCGCACCTGTCACTCCACCCCCATCAGTAGGGGGCAGCAGACAGCGCTTCTGCAGATGCTGCATCATCCTATGACAATGGAGGTGGTCAACCTTGGCGAACTGAGTATTTAATGACACTTCTAGAGCTACCGTGGAGTCTCTCCAGTGGAAGCAACCCCAGTGTTCTGAGCAAGGGTTACAAAGTGAGGGAGGGCAGTGTCCAGATCCCCAGAGCCACACATACATACACATACACACCCTTACCCCCATCCACTCTAGCTTTGTGACCATGGGACTGAAGTTTGTGATGGCTTTTTTATCAAGTAGATTGGTAAAATTTAACCATTCCTGTTGAGGTGCCCATAAGAAAATCATAGGCCAAGATAGGGAGGGGCATTCCAGCAAACCCCGTGTTAATGCTACTGTGGTTTTTAAATTTTTGTCTAGGGGTTTCTTTGGGGATTTTAGAACAGCATCTGCTGTCCTCCGGGGTCAAGAAAAGCATGGAAAGACAATATATGATGTACCCAGGGACCAGAAAGAAAATTTCTTTGCATCTTAGAAATGGTAGACATTCATTGTGACTAAAGAGCTTCTATGCTTCCTTGTTTCCATGCCAACATGCTGAGCATGCTCACAAAGAAGGCTCGTCCATTCCTCCTGTGTTTTAGTATTTGGCCCAGAGGTTTCCTAAATGGTTGCCTTGAAATCACTGTGGTCCAAATGTAATTCTTACACACTCAAATTATCACTGTCTGTAGCACACTTGTGCACCTGTCTTACATTCTCTGTTGCTCCCCCCCACACTCTTGCTCAGTCTGTCACCTGTTCAGTCTGCTTACTCACTCAATTGTTACCCTTTTGCTGTTGTCGTGTTTACAGTTTGCATTTTGAATGATTAGTTGGGATTACCAAACATTTTTTAAAAAGATATTATCAATAAATATTTTTTTAATTCTAAATTTTACCATTAGGGGACCCTGCCTGAATCTTTGCCAACCTGCAAGGAAACTCTAATGAAAGCAAGAAAAGTTATGAGAAGAAACTGTTTTGATGAAAACAGATGCTACCTTTTGGTTTCTATTTTATCTTCTGATATGTGATAATTCGCATGGTATCCCCAATATTCCCCCTACATATTCTTCCTTCTGTCAGACTCCACCAACTGTATCATAAGGAAAGAGAGAGATGTATTATTAGGAAAGAGTGAAAATGATAAATCACAAAACAGAGCCTGAAAGTCCCCAACACCCAAGTTCAGACATTAATGATTAATGTTATTATATATTTACTGAAATCTAGGAGTGATCAGTGGCATCTCTGACCTATGAGGTTGTTTTAACAGGAATGCCACTAGAGGAGCTGTGTATTCTAGCCAGTCTGTTTCTCTCTTTTCCCCCATTTCAGCCTTTCAGGGATACAAGAATGGCTCTATAACAGCTGGTCAATTGTATGTCAGTGTTAATGGATTCATATCTAGTGTTGGCACCCCAAAGGGCCAGAACCTTCCCATAACCTGTCAGTCATCTCTCTTTTCTGCCCCAGTCTTTTTTTTTTTTTTTTTTTTTTTTTAAGACGGGTTCTCACTCTTGCCCAGACTGGAGTGCAGTGGTGCGATCTCGGCTCACCGCAACCTCCACTTCCCAGGCTCAAGCGATTCTCTTGCCTCAGCCTACCGAGTAGCTGGGATTACAGGCATGCACCACTACTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACATGTTGGCCAGCCTGGTCTTGAACTCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCATGCCCGGCCCTGTTCAGACTTCTGAATGAAGTATGAATGTAGCCAGGTGAAGCATTGAGGCAGCTGAAAGAGAACACTGAGAGGAAGTAAGGGGTTTAGTGTCTCTGCTTAGCCTGGGCACTAGAACTGAGGGAGGAATTTAGTGTCCAGGACTCAAGAGTCCAAGAAGAAGCACCCTCTGTCTTCCCAAAAAATCAGAGGATAAAGGAAGTAAAATGAGTTTTTAAAGCATAAGAAGAAAATTTCTAAACCCCAAGATTAGAAACCCAGTGTGATTTTTAGTAGGGTGATTTTGGCGGGGGGTGTCCTTTGAGACATTAATGTGCAATCCATCATAATATTAATCTTCTATATGATCCAGACTATTAAAAGGCTTGTTTTATTTATTTATTTTATTTTATTTTATTTTTTTAGAGATGGGGTCTCGCTATCTTGCCCAGCCTGGACTCAAACTCCTGGGCTCAAGCCTTCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTGCCACTGTACCCAGCTTAAGAGGTTTGTTTTAATGCTGCAGTTGCTGATTATACCAGCATATATAAGAATAAAGTCTGATTTATTTATCCATTGATTTAGAAGGCAATTGGATGAAAGGGTCTTAGAAGTCTATACTATCCATTAATATTTATCATATTAAATTTATTTTAAATCCTGTTTTATTGTGCCGCTTTAAAAACGCAGATTACTTGTTTATTCATTCCCCTTTCCCCTTATTCTCTTTCAGATTACCTTATAAGGAATATAGTTTTTAACATGAAACTCAGTTTCTTGTCTGTACCCCTACACATAAAAATACATACGTGCATACACACATACTTCCAGATGTGGTTAATAATATTCAGATCCCTAGGTTACTCAAACAAAACTAAAGGAGAGAACTATTTAGGGGCCATCTGCTTTAAAGTTTAAGGTGTTTTGTTGTTGTTTTAGTGCCTGTACAAATTGACCATAAAACCCAGATTGATTAGTGAGTGTGGATTTGAGTTGCCTAAGTTGAGGCTATTAAGGTACTTCTTTACTTAAAAGATAAGTTTAAAAGACTCTATTCATCAGTTCATGATGATCTTGGAAATGCTGTTTCTCTGCTCAAAGGATATACCCACAGGCAGGTCCATGGGGACTTGCTCTGGTGATCTCTGCTATTAAGGCAAATTCCAGCCTGTTTGTGCCAAGAACAGAGTCAAGTGAGAGAGAA)TGAAGACTCAGAGATGTGCAGCACTGGCTTGTATGTTGTCAGGCAGAAGCCTTGTTCCTTTCTCAAGAAAACTTCAGGCCTATCAAGCTTGGAAGGAAATACATTTTTTTATGCTGATTTGCAGCCTACACCAGCTGATGAATATGCTAGGACTTTGAGAGAACACAAAGCATG|GTTTGAAATATCTCCATTCAGCTGGCATTTTACATCGAGACATTAAGCCAGGGAATCTCCTTGTGAACAGCAACTGTGTTCTAAAG___ATTTGTGATTTTGGATTGGCCAGAGTGGAAGAATTAGATGAATCCCGTCATATGACTCAGGAAGTTGTTACTCAGTATTATCGG(GCTCCAGAAATCCTGATGGGCAGCCGTCATTACAGCAATGCTATTGACATCTGGTCTGTGGGATGTATCTTTGCAGAACTACTAGGACGAAGAATATTGTTTCAGGCACAGAGTCCCATTCAGCAG___TTGGATTTGATCACGGATCTGTTGGGCACACCATCACTGGAAGCAATGAGGACAGCTTGTGAAGGCGCTAAGGCACATATACTCAGGGGTCCTCATAAACAG___CCATCTCTTCCTGTACTCTATACCCTGTCTAGCCAGGCTACACATGAAGCTGTTCATCTCCTTTGCAGGATGTTGGTCTTTGATCCA___TCCAAAAGAATATCCGCTAAGGATGCCTTAGCCCACCCCTACCTAGATGAAGGGCGACTACGATATCACACATGTATGTGTAAATGTTGCTTTTCCACCTCCACTGGAAGAGTTTATACCAGTGACTTTGAGCCTGTCACCAATCCCAAATTTGATGACACTTTCGAGAAGAACCTCAGTTCTGTCCGACAGGTTAAAG___AAATTATTCATCAGTTCATTTTGGAACAGCAGAAAGGAAACAGAGTGCCTCTCTGCATCAACCCTCAGTCTGCTGCTTTTAAGAGCTTTATTAG___TTCCACTGTTGCTCAGCCATCTGAGATGCCCCCATCTCCTCTGGTGTGGGAGTGATGGTGGAAGATAATGTACTACTGAAGATGTAATGTAGCTTTCCACTGGAGTCTGGGATTTGCAATTCTGGAGGTTAATCATGCTTGTACTGTAATTTTACTAATGAAGTTTTAAATTAACAACCACTACTTGTATGATATGAATAATATTTAGAAATGTTACTAGACTTTTAATCTTGTAAAGTGGTTGTGCTTTTAGAAGAAAAATATTTTACCCAGAGTTGCACATGTTTTATGAATTTAGTGCAGCTGTTATGGCTCACCTCAGAACAAAAGAGAATTGAACCAAATTTGGGAGTTTGGGGTTTTATGTTTTGTTTTTCTTTTCTAAAATGAAGTGAGATTGTTCACACACACACACACACACACACACACACACAAACACAAAGGACAGTCATACATTTTGATATTTGAGCCATTCCTAAAGATTTGGGGTTTTCTAAAACTAAAGAATCTAGGAACCTTGCCTGCGACCAATCATGGAGCCACGTGAGCTGATCGTGGCTGCACCTGGGGGGAGGGTAGGGAGGAGGGGCATGCCACCTAATGATCAAGCCCTATAATTAGCTTCTCATTAGAGCCGTGATGGTGATGTGTGCTGTCTAAAATCCAATGTTGTGGGTAGAGAGAATGAGTTTGTGACTAGGAGAGACTAAACTTTTGTTTTCCTTACCCAGTATAAATATATATATATATATTTAATCTATTTTTATTAGAAGTTTTTCTGCTCTTTCTTACATAAAAGAACCCCAAGCATGCATCTTTCATGTGTGTAAATAATTCATTTCTGGGCTAATTTCAAAAGAATCCCAATATTGCTGTATAGAAAGAGAACTAGCTTGCACATTTTAGGTCTGTGAAATTTTGTGAGACTTTTCCTGCACTGGACAGTAAAAAAATAATAAAAGACAAAAACAAATTTAAAAAAAAATTTAAGCCACAAAAAAAGGCACATAGGGAATTATGTCAAATGTGTTTGTGTCCTTAGGCAAAGCTGTGGGAGTCTTGAAATGTCACAGTAGTAAATAACTTATTACTTTTTGACAAGTTCTTTTTTTCTGTTGGAACACTGAATTCTTCTGTGCATATGTACATATGAATACAAATCGAAGGCCTCTACCTCCTGGAGTTATACAACTTGGCTTGTTTACCTCCACATGCTGATGATGACTATTTTTTTTTTTTGAGTTCAGTGTGGAGACTTGAAACTTGAATGTCCCTTCCAACTTTTATATTAAAAATAAAAAGACAAGAAAATTGAAGATCATTTTTCACCTGTACAAGGAATACTAATGGATCGTCTTAAAATTGGTCTAGGAAAAAACCTTGGTGTGTGTTATGGACAATTAACTGTTAAAGTTATTGTAAGTTATCTGTATTTAGCAGAGTATTTTCAACTTGAGTGATCTGAGCTGAATTTGAAGACTATTAATAAGTTATGTTTGGAAGTTTTAACTTCAATGAAGTAATTATTTGCTGTGAAAGAAACAAACATTGAATTACTAAACAAAGATGGTGCAATATCTTTGTTTTTTTTTTATGAGGCTCCTGAGAATCAACCCAACTGAAGCATTTCAATTCACTTGAATGAGAAACGTGTTTAGTATCAAAAGAGCCCAAGAAGACACTGGTGTGAAAGGTACAATCTCAGAGGTTGGTCAATTACCGTGGCACACTTTCTGGTCACTTTGTACAATGTAGATTTGAAGTACAGTGGTGAAAACATTAAATGTGACATTTGAAAAA)$ . 11BR038 ENSG00000225484.7 ENSG00000178217.14 -/- +/+ chr10:79826198 chr10:80634285 exon/splice-site CDS/splice-site inversion 1 3 0 29 11 high . . . . . ENSG00000225484.7 ENSG00000178217.14 ENST00000665716.1 ENST00000646907.1 upstream upstream . ^(GCTGCTGGGATACCGGAGGACTCGGGTCCCGGCTCGACTCAGTCCTCCAGCCGCCCGGGGAATACCTCTAGTTCTTCCCGGCCGCCGCCGCCGCCGCCGCCCCGCCGCTTCCTCCTCCGCCTGCCGGCCTCCTTCGCCCCGTCC)CGTCCGCGCAGCGCGTCCGGCCCGCCCGCAGGCCAGCTTCTCTCGGGAGCCCCCACCCAGGCGCATGGCTCCATGAAGCAAGAGGAGGAGGCAGAGCGCGAGAGGTCCCGTCCGCCCCAGCCGCGTCTGGGCCAGGATAAAAG|GAATTATTAGCCGAGAAGATGCAGAAGCTCTCCTGGAGAACATGACTGAGGGAGCATTCCTGGTCCGGGTCAGTGAGAAAATCTGGGGTTACACCCTCTCCTACCGCCTGCAGAAAGGGTTCAAACACTTTCTTGTGGATGCTTCTGGGGATTTTTACAGCTTCCTGGGAGTGGACCCCAATCGCCATGCAAC(GCTCACGGATCTCGTTGATTTCCATAAG___GAGGAAATTATCACTGTTTCAGGAGGAGAGTTACTTCAGGAACCCTGCGGACAGAGGGACAGCCCACCAGACTACCATCTGTTGTTTGAATAA)$ . 11BR038 ENSG00000225484.7 ENSG00000178217.14 -/- +/+ chr10:79826198 chr10:80643993 exon/splice-site CDS/splice-site inversion 3 1 0 29 20 high . . . . . ENSG00000225484.7 ENSG00000178217.14 ENST00000665716.1 ENST00000339284.6 upstream upstream . ^(GCTGCTGGGATACCGGAGGACTCGGGTCCCGGCTCGACTCAGTCCTCCAGCCGCCCGGGGAATACCTCTAGTTCTTCCCGGCCGCCGCCGCCGCCGCCGCCCCGCCGCTTCCTCCTCCGCCTGCCGGCCTCCTTCGCCCCGTCCCGTCCGCGCAGCGCGTCCGGCCCGCCCGCAGGCCAG)CTTCTCTCGGGAGCCCCCACCCAGGCGCATGGCTCCATGAAGCAAGAGGAGGAGGCAGAGCGCGAGAGGTCCCGTCCGCCCCAGCCGCGTCTGGGCCAGGATAAAAG|GAGGAAATTATCACTGTTTCAGGAGGAGAGTTACTTCAGGAACCCTGCGGACAGAGGGACAGCCCACCAGACTACCATCTGTTGTTTGAATAATTTTTTTCCTTATCAATTGGATTCATTTTGGTATCCTGTTTTTGAACTCAGCTTAAGAACTTCTCATCTCAAATCCTATGGCCTTCTGGAAGATCCACCACTATCCAAAG(GAAAAAGTAGATTAATATGCCTCAAGGGATATGACATCTATGGCATAGGGCTACTGGTCTCATCCCAGCGATCGGGACAGAAATTGCTAATAGCTCATGCAACTCTTTCATGAAGAGCTTAGCTATGACCTTAGAAGACAAAGCCTGTTTGTCATGGCTGCCGTAAACCGAGCTCTTACAGTGCGTGGACCATGTTTTAATAATCCAAAATAATTCCAGTGCCGAACCCTGAATTTAACATATGGTAGACATTCAGTAAATGTTTGTTGAATGAATGCATGTCTTCTAAAAGTTTTCCAACACAAATTAGCAGTGGTTTCTTGTAAATTATTTCCTACTCGCCACTCTATAAAATCATGGCAATAATAGAAGATTATGAAGGATTTCTATGGAGGACATAAATGCTGCATCTTTCATAATCTCCATTATCACCCTCATTGATATTATCATTGGAATTATCTAAGGTGAGCCCCAGTTTCCAGGGCAGCTGATTGACACCGTCCTGCCTTCCTTATTTAACCTCTTCTTTTGCCACTCGCCTCTATCTTTGAATCATATTTTGGCCTTGGTTTTGCAATGGTTTTATGTCATCCTACAGATGTCTTCAAGACCTGGGGTGAGTTATCAATGCAAGAATGGTTCTTAGAAATCTGATGAGGCCTCTGCTCTCTGGGATGTGGCCCTCTCTATGCAGGTTACTCCAATGATTAGCTCTGTCCTCATTGTCCTTTTAATTCCCTTGTCAACTTAATCTCAGTATGTTGCTTATATTAACAAGAAGACTCACGCAATAACTCCTCGATAACTCTCAGTGATGGTATCTGTTGGTGCATACTTGTGTTCCACAGTTATGGCCATATACACAGAGGTAGTATATGATGAAGAGAAGATTACAGTCTTTACAGTCAAGAAGACTTGGGTTCATATCCTAACCCTGGAACTTACTAGCATTATAATGCTTGCAGCATTGTGTTTGGTGAGAGGAAAAGAATGAATGGATTCTAGGAATGTTAGGGAACGATTTACTTTACCCGATGGCTGTATCAAACATCTATGCCCCACTTCTTCTCTTGCCTCACCTATTCCTTAGATTCTTGGTCACTTCTCTACCACAAGCCACCAGCACTATAACCAGTTTTGCGTGGGTTCTGCTCTTCCTCCCTATGTTGATCAGTGTCATGTGAGCATAAGCCAATGGTAGCTTGCCACATGCCCCATCTCCCATTGCTGCAGAGGCATAAGACAGAAGAGATGGGAAGTGAATGCCCGATGTGGTGAATCTGGGATGAATGGGAGTCATAGGCTGGTAGATCGCTTTTTCCTCCTTCTTCCTCCTGGAGGAACTATTCTGAGAGTCATCTGTTTGTATGGTCTTGTAGAAGACAGTCCTGTAAGATCGAGCAACCAGTCATGATGAAACCAAGTGGTGGCCGGATCAGTATGACACCCTGCTGCCCCCGTTTTTAATTCTTCTCTGCCTTGCCCTGCTCTCTCCTGTTGCTCTGGGATTGCACTTCTGAATGAAGTAGCAGCTCATAAGCTTTTGCCACAGGCTCTGTCTTTTGGGGAATCCAGGATAAGAACCCATTATACAGAAGTGTTCAATAATATCAATTTTGCAACTCACTCAGCTCCATGGCTTCCCCCGGTCTACCTGTCTCACTACATGCATAAAGTGAAATGATGGAAGGAATCTGCTTTCTGAACTCTAATGTGCCTTCATTGATTATCATTAAAATTATCATTAAAATTGCCTTATTTCTATGGACTCAGAGGAATGATGTTTTAGTTTTGGCTCTCTGATTTACCAACTATGTGACTTTGTCCAAGTCATTTAACTTCAGTAAACCTCGGTATGACTGAAAAGGGAGTTTTCTGTATGGCCGTCACTAGGTTTTTTTGTGGGTTAGTTAAATGATAAACATGAAAGCTCTGTCCAAATGAAAAAGGTATTTCTAACAACAACCACAATAACAATAACAACTTAGTGCTTAGCCCATGATGTATCAGGGGATATGATGTGATGATTTTCAAGGTGTTGGAGGCAACTTCTGTTCCAAGAACTCCCAGCAGCTTTGAAAGCAGACTGAGATGAGTTGAGACCCTGAATCCCTGGGCTGTTGTTCCTGTCACCCCTAATTAATATGTGAGAGACAACAGCTGGGTTTTCCATCCCTAACACATTTATTTCATTTTATTTGGGGCCTGCAATTTCTGCATGTCTCATATATTTTAGGTTTTACCTTTTTACCTGGCTTTAAAATAAATCCCTTGTAAGTTGTCCTGCAAATGAAATTACTGTCTGGAAAACTGCAATTTCATCTTGAGAGTTTTATTATGCTAATAAATGTCAGGATTCTCATAT)$ . 11BR038 ENSG00000223189.1(11622),ENSG00000243302.3(12288) ENSG00000146842.17 ./+ -/- chr7:128638897 chr7:130204110 intergenic CDS/splice-site inversion 3 1 0 50 50 high . . |Cytochrome_B561__N_terminal(100%) . . . ENSG00000146842.17 . ENST00000397622.7 downstream downstream . CTGGGAAACATGTTATTCAG___AAACAGGACCTTGCCCTGTCACTCAGGATGGAGTTCAGTGGTCCAATTATGGCTCATTGTAGCCTCAAACTCCCAGGCTCAAGCAGTCCTACCATGTCAGCCTTCCCAGTAGCTGGGACCACAG|ATGCAGGGGGAGGCACACCCTAGTGCTTCCCTTATTGACAGAACCATCAAGATGAGAAAAGAAACAGAGGCTAGGAAAGTGGTCTTAGCCTGGGGACTCCTAAATGTATCTATGGCTGG(AATGATATATACTGAAAT___GACTGGAAAATTGATTAGTTCATACTACAATGTGACATACTGGCCCCTCTGGTATATTG___AGCTTGCCCTTGCATCTCTCTTCAGCCTTAATGCCTTATTTGATTTTTGGAGATATTTCAAATATACTGTGGCACCAACAAGTCTGGTTGTTAGTCCTGGACAGCAAACACTTTTAGGGTTGAAAACAGCTG___TTGTACAGACTACGCCTCCACATGATCTGGCAGCAACCCAAATCCCTCCCGCTCCACCTTCCCCTTCAATTCAGGGTCAGAGTGTGTTGAGTTATAGCCCTTCTCGTTCGCCCAGTACCAGTCCCAAGTTCACCACCAGCTGTATGACTGGTTACAGCCCTCAGCTGCAAGGTCTGTCCTCAGGTGGCAGTGGTTCTTATAGCCCTGGAGTGACCTACTCGCCCGTCAGTGGTTATAATAAG___TTGGCGAGCTTTAGCCCCTCTCCTCCTTCTCCGTACCCTACCACTGTTGGACCAGTGGAGAGCAGTGGATTGAGATCTCGCTACCGTTCTTCACCTACCGTCTACAACTCACCTACTGACAAAGAAGACTACATGACCGACCTACGAACTTTGGATACTTTTCTCAGAAGTGAAGAGGAGAAACAGCATAGGGTTAAGCTGG___GGAGCCCAGATTCTACCTCTCCTTCCAGCAGTCCTACTTTCTGGAACTATAGTCGTTCTATGGGGGATTATGCACAAACTTTAAAGAAGTTTCAGTATCAGCTTGCCTGTAGGTCTCAGGCCCCATGTGCTAACAAAGATGAAGCCGATCTCAGCTCTAAACAAGCCGCAGAAGAG___GTCTGGGCAAGAGTGGCTATGAATAGACAACTTCTTGATCATATGGATTCATGGACAGCTAAATTTAGAAAT___TGGATCAATGAGACAATATTAGTGCCACTTGTTCAAGAGATTGAGTCTGTCAGCACACAGATGAGACGAATGGGTTGTCCAGAGCTACAGATAGGAG___AGGCTAGTATTACTAGCTTGAAACAAGCTGCCCTGGTTAAAGCGCCTCTCATTCCGACTTTGAACACAATCGTTCAGTATCTAGACCTTACTCCAAATCAGGAATACTTGTTTGAAAGGATCAAAG___AACTATCTCAGGGAGGTTGTATGAGCTCATTTCGATGGAACAGAGGTGGCGACTTCAAAGGACGAAAGTGGGATACAGACCTGCCCACCGATTCTGCT___ATCATCATGCATGTATTTTGCACCTACCTTGATTCCAGATTACCTCCACATCCGAAGTATCCCGACGGAAAAACTTTTACTTCTCAGCACTTTGTTCAGACACCAAATAAACCAG___ATGTTACAAATGAGAATGTTTTTTGCATTTATCAGAGTGCTATCAACCCTCCCCATTATGAGCTCATCTACCAGCGTCATGTATACAACCTGCCAAAG___GGCAGAAATAATATGTTTCATACATTGTTGATGTTTCTCTACATCATAAAGACCAAAGAGTCAGGAATGCTTGG___GAGAGTTAATCTTGGTCTATCTGGTGTGAATATATTGTGGATCTTTGGCGAGTAGCAAGTCATATATTTAATTCTGACATTTAGACTATTTCACTGAACCAGAAGTCGAAACTAAACATCTCTGAGCCACTGACTCTTCTGAAATAAAATACACATGGGTGTATGTTACAGACTCTTTAGATTTAACAGAAAATGTAGCTGTTATGAAATGTAATTGTAAAAATATGTCCCGTATCTTCTATATCGAGACATTGCCTTTAATTTTATATCGCTTTTCAGAAATTTCAGTTGACTACAAAACTGCAACCCTTCGGATTTTTATTGACTCAAAATAGTGCCATTCCCCTTAATGAAATAGATTTTGAGTCTTTTTTTCATTGTAACCCCCAAATGAGAATCATCTACCTGATTCTTGTACCAAAAAAAAATTTTTTTCAGTCTTTTTTTTTTTTAGAGAGGGTCTCTGTCAACGCAGACTGGAGTGCAGTGGCACGATCTTAGCTCACTACAACTTCTGCCTCCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGCGAGCCACTGCGCCCAGCCTCAGTTATTTTATTTAACAGTGTAAGTACTTAGAAAGTAAGAAAATTGCTGATTTAGTTTTTTTTTTTTTTTTTTTAATGTTTCCCCAGCATTCTGCAAGTTAGGCCAAAGCCCACATTCAAAGAAATGAGATTAACTCTTAAGTAATGTATTAAGTTTATGTATATTTTAAAATATTATTAAAGGAGGTTTGAAAGTATTGACATTTAAAAAGTCAACACTTAGATTAAATTTAGCTGGTAGTTTTAATTTGGGTTTTAGTTAAGAGTGTGAGGACATCAGGAAAACTGTTTACTACTTTGGTTTTAGCAGCTCAGTTTTACTATTCCATAATGTGTTATTTTTAAAGTTCTCTTTTTAAGATCACAGTGATATCCTATCTTCAAATTTTTTAAATATGTTCAAAATATCTGGAGGGTGAGAAGTTACCAAGTTTGTATGTTTTGTTTGACTCACCATCTTTATTTTCTGTATATGTAGTAGCTGGCAATTGCATATATTTTCTTGATTAACATATTAGAGACTGCTTCCATCATCTTATGTAAACCTGGAAACAGCTGAAACTAGTCTTTTCTGAAGAACCGTGTATCAGTGTTAGATGTGCATCCCGTTTTGTCATTCCCTCAGACTTTGAATACAGTCATTACTCTCTGGAAGAGAAATGTAAGTATATTTTTTGTTATCTGCAGTATGGTTTAACATGTATTAATAATACACATATGCAGACTCACTAAAGTATCCCCAGTAATTAGTAAATTCCAAATTTAAGTCAGTACAGTTCTGTATTTGTAAATTCTGTCTTTCAAAAAGTTGTTCGTGTTTTTAAAAGTTGATGTCCAAAGGAAAGGAGCTTCTTTTAAGTACTTTTGGTGTATGTTGAATATTTATTTGCTATGATATTCTAGAAGAAAATATCAAACATGTTAAATATAAGAACATGTTAAAATTTAAATTTGCTATTTCAAAAGTTACTGAAGATGTCTTGGAATAACAATTGTCATGCTGTTAAACTAGTTGCATATACTTCATTAAAAGCACCATGGAGAAACATTTTAACAATGCA)$ . 11BR038 ENSG00000100522.10 ENSG00000139915.21(7111),ENSG00000263945.1(78279) -/- ./- chr14:52791428 chr14:47682716 5'UTR/splice-site intergenic deletion 1 2 0 33 4 high . . . . . ENSG00000100522.10 . ENST00000216410.8 . upstream downstream . ^(AGAGGCGAGGTGGAGGCGTTGGCGCTGCCACGTCTGGGCCGCGGTTCCCAACTGTGGCGCGGGCGGTGGAGGAGGAGGTGGGGCTGGCGCTGAAGCCGGATCCGG)ATCCGGTGCTGTGCACACTGGTGGGGGAGAGTCCGACGCGCCTGGCTAGGAGCGCCGACCGCAGGGCCTCTACGG|TTCTGGAGGCCAGAAGTATGCAGTCAAGATACACAGCAGGACCATGCTGTCTCTGGAGGATCTGGGAGACTGTGTTCTATGCCTTTCTCTTAGCCTCTGGTGTTGCTGGCAAGCCTTGACATTCCTGAACTTGTCAATACATCACTCTAATCTCTGACTCCATTGTCACAAGATGTCCTCCCCTGTGTGTGTGTCTTTTGCTGTGCCTTACTAGAGCATGTTGATCCCCATCTGTTTCCTTGCTCTGCTAAGCAATAAAACTTG . 11BR038 ENSG00000004766.17 ENSG00000091704.10 +/+ +/+ chr7:93232500 chr7:130381098 CDS/splice-site CDS/splice-site deletion 2 1 0 39 3 high out-of-frame . |Carboxypeptidase_activation_peptide(100%),Zinc_carboxypeptidase(100%) . . ENSG00000004766.17 ENSG00000091704.10 ENST00000305866.10 ENST00000011292.8 downstream upstream . ^(GTGACCACCCACTATGGCTTC)CTAGTGTCAGGGCCAGCTGTGTAGTGGCTCGGTGTGATTTGTTAGCTCTTTGAGGCAGGGTACCCTCCTCAGGATTTCGATATGCAAAAAATCAAATCTCTCATGACCCGACAG|GCATCAGGTGCTCCGAATCTCTGTAGCCGATGAGGCCCAGGTACAGAAGGTGAAGGAGCTGGAGGACCTGGAGCACCTGCAG___CTGGACTTCTGGCGGGGcCCTGCCCACCCTGGCTCCCCCATCGACGTCCGAGTGCCC(TTCCCCAGCATCCAGGCGGTCAAGATCTTTCTGGAGTCCCACGGCATCAGCTATGAGACCATGATCGAGGACGTGCAGTCGCTGCTGGACGAGGAGCAGGAGCAGATGTTCGCCTTCCGGTCCCGGGCGCGCTCCACCGACACTTTTAACTACGCCACCTACCACACCCTGGAGGAG___ATCTATGACTTCCTGGACCTGCTGGTGGCGGAGAACCCGCACCTTGTCAGCAAGATCCAGATTGGCAACACCTATGAAGGGCGTCCCATTTACGTGCTGAAG___TTCAGCACGGGGGGCAGTAAGCGTCCAGCCATCTGGATCGACACGGGCATCCATTCCCGGGAGTGGGTCACCCAGGCCAGTGGGGTCTGGTTTGCAAAGAAG___ATCACTCAAGACTACGGGCAGGATGCAGCTTTCACCGCCATTCTCGACACCTTGGACATCTTCCTGGAGATCGTCACCAACCCTGATGGCTTTGCCTTCACGCACAGCACG___AATCGCATGTGGCGCAAGACTCGGTCCCACACAGCAGGCTCCCTCTGTATTGGCGTGGACCCCAACAGGAACTGGGACGCTGGCTTTGGGT___TGTCCGGAGCCAGCAGTAACCCCTGCTCGGAGACTTACCACGGCAAGTTTGCCAATTCCGAAGTGGAGGTCAAGTCCATTGTAGACTTTGTGAAGGACCATGGGAACATCAAGGCCTTCATCTCCATCCACAGCTACTCCCAGCTCCTCATGTATCCCTATGGCTACAAAACAGAACCAGTCCCTGACCAGGATGAGCTG___GATCAGCTTTCCAAGGCTGCTGTGACAGCCCTGGCCTCTCTCTACGGGACCAAGTTCAACTATGGCAGCATCATCAAGGCAATTT___ATCAAGCCAGTGGAAGCACTATTGACTGGACCTACAGCCAGGGCATCAAGTACTCCTTCACCTTCGAGCTCCGGGACACTGGGCGCTATGGCTTCCTGCTGCCAGCCTCCCAGATCATCCCCACAGCCAAGGAGACGTGGCTGGCGCTTCTGACCATCATGGAGCACACCCTGAATCACCCCTACTGAGCTGACCCTTTGACACCCTTCTTGTCCTCCTCTCTGGCCCCATCCAGGCAACCAAATAAAGTTTGAGTGTACCAGGAACAGAATCCTGGGGCTTGCA)$ MQKIKSLMTRQ|asgapnlcsr* 11BR038 ENSG00000133816.15 ENSG00000254532.2 +/+ -/- chr11:12249246 chr11:30044455 CDS/splice-site exon/splice-site inversion 2 0 1 32 2 high out-of-frame . Calponin_homology_(CH)_domain(100%),FAD_binding_domain(100%)| . . ENSG00000133816.15 ENSG00000254532.2 ENST00000527546.5 ENST00000662729.1 downstream downstream . ^(AGGAACATGGCAACCCGTGTGTGTCTCATCCCAGAAAGAGAAGACTTTAACCACTGTGATGCCTGAGAATCCAGTGA___GTGTGACGTTTCTCCAGATACTTCATGCTGTTCACCTGTGTCCTCGCCGCACCACTGCCGCACACGACTCCTGAACCATGGGGGAAAACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAGAACTTTGTCCAGGCATCCACGTGCAAAGGTACCCTCCAGGCCTTCAACATTCTCACACGACACCTGGACCTAGACCCTCTGGACCACAGAAACTTTTATTCCAAGCTCAAGTCCAAGGTGACCACCTGGAAAGCCAAAGCCCTGTGGTACAAATTGGATAAGCGTGGTTCCCACAAAGAGTATAAGCGAGGGAAGTCGTGCACGAACACCAAG___TGTCTCATAGTTGGGGGAGGACCCTGTGGCTTGCGCACTGCCATTGAACTTGCCTACCTGGGAGCCAAAGTGGTCGTGGTGGAGAAGAGGGACTCCTTCTCCCGGAACAACGTGCTACACCTCTGGCCTTTCACCATCCATGACCTTCGTGGCCTGGGAGCCAAGAAGTTCTATGGGAAGTTCTGTGCTGGCTCCATCGACCATATCA___GTATTCGCCAACTACAGCTCATCCTATTCAAGGTGGCCCTGATGCTGGGAGTTGAAATCCATGTGAATGTGGAGTTCGTGAAGGTTCTAGAGCCTCCTGAAGATCAAGAAAATCAAA___AAATTGGCTGGCGGGCAGAATTTCTCCCTACAGACCATTCTCTGTCGGAGTTTGAGTTTGACGTCATCATTGGTGCCGATGGCCGCAGGAACACCCTGGAAG___GGTTCAGAAGAAAAGAATTCCGTGGGAAGCTGGCGATTGCCATCACCGCCAACTTCATAAACAGAAACAGCACAGCGGAAGCCAAGGTGGAAGAGATTAGTGGTGTGGCTTTCATCTTCAATCAGAAATTTTTTCAGGACCTTAAAGAAGAAACAG___GCATAGATCTTGAGAACATTGTTTACTACAAGGACTGCACCCACTATTTTGTAATGACAGCCAAGAAGCAGAGCCTGCTCGACAAAGGTGTCATCATTAAC___GACTACATCGACACAGAGATGCTGCTGTGTGCGGAGAACGTGAACCAAGACAACCTGCTATCCTATGCCCGGGAAGCTGCAGACTTTGCCACCAACTACCAGCTGCCATCCTTAGACTTTGCCATGAACCACTATGGGCAGCCTGATGTGGCCATGTTTGACTTTACCTGCATGTATGCCTCAGAGAACGCGGCCCTGGTGCGGGAGCGGCAGGCGCACCAGCTGCTCGTGGCCCTTGTGGGTGACAGCTTGCTTGAG___CCATTTTGGCCCATGGGTACAGGCTGTGCCCGTGGCTTCCTGGCAGCCTTTGACACGGCATGGATGGTGAAGAGCTGGAACCAGGGCACCCCTCCCCTGGAGCTGCTGGCTGAAAG___GGAAAGTCTCTACCGGCTGTTACCTCAGACAACCCCGGAGAACATCAACAAGAACTTTGAGCAGTACACGTTGGACCCAGGGACACGGTACCCAAACCTCAACTCACACTGTGTCAGGCCCCATCAG___GTGAAGCATTTGTATATCACTAAGGAGCTGGAGCACTACCCTCTCGAGAGACTGGGCTCGGTGAGGAGATCTGTCAACCTCTCCAGGAAGG___AGTCAGATATCCGGCCCAGCAAGCTCCTGACCTGGTGCCAGCAGCAGACAGAGGGCTACCAGCATGTCAACGTCACCGACCTGACCACATCCTGGCGCAGTGGGTTGGCCCTGTGTGCCATCATCCACCGCTTCCGGCCTGAGCTCAT___CAACTTTGACTCTTTGAATGAAGATGATGCTGTGGAGAACAACCAGCTCGCATTTGATGTGGCCGAGCGAGAGTTTGGGATCCCTCCAGTGACCACGGGCAAAGAGATGGCATCTGCCCAGGAGCCTGACAAGCTCAGCATGGTCATGTACCTCTCCAAGTTCTACGAGCTCTTCCGGGGCACCCCACTGAGGCCCGTGG___ATTCTTGGCGCAAAAACTATGGAGAAAATGCTGACCTCAGCTTGGCCAAATCATCCATTTCTAATAACTATCTCAACCTCACATTTCCAAGGAAGAGGACTCCACGG___GTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAG___CCTTCAAACTTTTCCAGCCGTAGCTTGGGCTCCAATCAAGAGTGT)GGGAGCAGTAAGGAAGGTGGAAATCAGAACAAAGTCAAGTCCATGGCGAATCAGCTGCTGGCCAAGTTTGAGGAGAGCACTCGGAACCCCTCACTCATGAAGCAG___GAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAG|ATGGTCTGAGAGTACCTGTGCTGAAATG(GAATTGTCTTTGAGTGGACACTTCTTAGATGAGACCTATTGTGGCCAATAGCTCCTGAGGAACTGAAGCCTTCAGTTCAAAACTTGTGTGAGAAAAATGAATCTTGCCAACTACTGGAGTGAGCTTAGAAATGAATCCATCCCCAGTTGACCCTTGAATGTAGCCTTGTCAGAGACCCAGAGACAAAGCATCCTGCTAATCTGCACTGGGTTCTAGGCCCACAGAAACCATGGGATAATAACTTTGTGTTGCTATAAGCCACTGAAAACAAACAAATAAAATACTTAAGATGTTCCCCTGTGGAAGGGTTCCATTGCCAGGGATCTGCACTTCACAACCAAAGGGATTAAAGAGAATTGCCTTCTTCAGATTTCA)$ MGENEDEKQAQAGQVFENFVQASTCKGTLQAFNILTRHLDLDPLDHRNFYSKLKSKVTTWKAKALWYKLDKRGSHKEYKRGKSCTNTKCLIVGGGPCGLRTAIELAYLGAKVVVVEKRDSFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHSLSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVIINDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFDTAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTWCQQQTEGYQHVNVTDLTTSWRSGLALCAIIHRFRPELINFDSLNEDDAVENNQLAFDVAEREFGIPPVTTGKEMASAQEPDKLSMVMYLSKFYELFRGTPLRPVDSWRKNYGENADLSLAKSSISNNYLNLTFPRKRTPRVDGQTGENDMNKRRRKGFTNLDEPSNFSSRSLGSNQECGSSKEGGNQNKVKSMANQLLAKFEESTRNPSLMKQEKKSPSGFHFHPSHLRTVHPQ|mv* 11BR038 ENSG00000154001.14 ENSG00000259076.1 -/- -/- chr14:63539529 chr14:64552888 CDS/splice-site intron duplication 1 2 0 50 3 high out-of-frame . Protein_phosphatase_2A_regulatory_B_subunit_(B56_family)(100%)| . . ENSG00000154001.14 ENSG00000259076.1 ENST00000337537.8 ENST00000556634.1 upstream downstream . ^(GCTGGCCAGAAGGTTCGGTTGCGCGTGTGCCATGGACTCAGCCGCCCGGTGATATTGACAATAGGAGAGAGAAAGGGGCATTGACTGGGACCCACCGCGGGTAGCGAAAGGTGGCTCTGGCAGCGGCGGCTCCAGCTCCTGCGGCTCCTCCTCCTTATTCTGTCCCCTTCTCTTGCTGCCGCTGCAGATCCAGTCTTCCTCCCTCCCTTCCCCCCCTCCCCACGTCGTCGCCGCCGCCGCCGGGTCCGGGGCAACGAGCTGAGGCGCCGCCCGCCAGGAATGTGAGCGAGGAGCCACCGGCGGAGCCGCAACGGGGTCGGTGCCGATTTGATGGGACGGGCCCGCGGGGGAGGATCGTGAGGCCGCCGCCGCCACCGGAACGCTGAGGTTCGGGTCCGGCCGTGAGGCCTAGAGGCTCCGCCGCCGCGGAACCGGAGGGACCCCGTACCGGACAGCCGTCGCCCCAGGCTCCCCGCAGCTGCCCGGACCTCCCCCTGCACGTCCCGGTCCCGCCGCCCGCCCCCGCTGCGGCCACCTCGCCCGTCTCCCGCCCCTCCAAGCCACAGATCATCTTTGGATTCTTCCCCAGAAGCTTCAAG___TAGGGATATGTCCTCAGCACCAACTA)CTCCTCCATCAGTGGATAAAGTAGACGGATTTTCTCGGAAGTCCGTtAGAAAAGCCAGACAGAAGAGGTCGCAAAGTTCCTCACAGTTTAGGTCTCAAGGCAAGCCTATTGAGTTAACACCTCTGCCGCTGCTAAAAG|CTATCTCACTGTCTGTCTCACACTCACTGAGGGTGATGTTTCAGGAGCCACTGGACAGAATCTTCTGCGGCAAACCTGAGAAAGAAAACTGAAATTACTGCTTTGAAGTGACGGG(TTACTCAGAAATACTGAAATACATATTCTATAAAATGTAAACTTTTGATTTTGACTCTAATAAAATGTTAAGCCTTTGAA)$ MSSAPTTPPSVDKVDGFSRKSVRKARQKRSQSSSQFRSQGKPIELTPLPLLK|aislsvshslrvmfqepldrifcgkpeken* 11BR038 ENSG00000139117.14 ENSG00000225722.1(26512),ENSG00000236513.1(647127) -/- ./- chr12:38873004 chrX:3980073 CDS/splice-site intergenic translocation 1 1 0 16 1 high out-of-frame . C2_domain(100%)| . . ENSG00000139117.14 . ENST00000331366.10 . upstream downstream . ^(AGTCCGCCCGAGCTGTGGTTGTGGGCGCCGGACAAGTCCAAGGCGCCTCCTCCCAATATGGACAGCCGCTACAACAGCACTGCGGGCATCGGGGACTTGAACCAGCTGAGCGCTGCCATCCCGGCCACGCGGGTGG)AGGTGTCCGTGTCtTGCAG___AAATCTTCTTGACAGAGACACATTTTCTAAATCTGATCCAA___TTTGTGTCTTATATGTACAAGGAGTTGGAAATAAAGAATGGAGAGAG|CCTCCTCAACGTGAAGACAATGAGATGAAGACATTTATGACGATGCACTTCTACTTGATGAATG___GTGAACTGTCACCCCTACAACTCAGCTTGCAACCAGCCCTGGCCACCACCAGTTTCCCCACACTGAGCTGAATATTGGACATGCCCATCTTAGACATTCCAG MDSRYNSTAGIGDLNQLSAAIPATRVEVSVSCRNLLDRDTFSKSDPICVLYVQGVGNKEWRE|ppqrednemktfmtmhfylmngelsplqlslqpalattsfptls* 11BR038 ENSG00000133731.10 ENSG00000254366.7(217234),ENSG00000254001.5(393577) -/- ./- chr8:81680650 chr8:77754524 CDS/splice-site intergenic deletion 1 1 0 51 3 high out-of-frame . Inositol_monophosphatase_family(100%)| . . ENSG00000133731.10 . ENST00000256108.10 . upstream downstream . ^(AGCCCCTCTACCTCCGGAAGAGACGAGTGCGGTAACACCGTTCACAGAGCTAGCCGGACGTCCTCCGACTCAAG___ATATTTGTCAAATATTTTCAGAAGATGGCTGATCCTTGGCAGGAATGCATGGATTATGCAGTAACTCTAGCAAGACAAGCTGGAGAG___GTAGTTTGTGAAGCTATAAAAAATGAAATGAATGTTATGCTGAAAAGTT)CTCCAGTTGATTTGGTAACTGCTACGGACCAAAAAGTTGAAAAAATGCTTATCTCTTCCATAAAGGAAAAGTATCCATCTCACAG|GCCAGAAGATGTTGTGCATTTCAAACAGACAAATcAAGCTGTAGAAGATTGTTTCTTGAAGGACTCAACCAAATAAGAAATATCTAAAGTTGCATGCCTCGTTGTAAAGGAAGTATATTAAACATACACTCTGACAAAATTAACACAGCAAGATTGCACTTACACTGTATAATCACTACACAAAAAGCCAATAATCACTTTGTTCAAAcGAGATAATGCCACATAATAT MADPWQECMDYAVTLARQAGEVVCEAIKNEMNVMLKSSPVDLVTATDQKVEKMLISSIKEKYPSHr|pedvvhfkqtnqavedcflkdstk* 11BR038 ENSG00000133731.10 ENSG00000254366.7(276100),ENSG00000254001.5(334711) -/- ./- chr8:81680650 chr8:77813390 CDS/splice-site intergenic deletion 1 1 0 51 6 high out-of-frame . Inositol_monophosphatase_family(100%)| . . ENSG00000133731.10 . ENST00000256108.10 . upstream downstream . ^(AGCCCCTCTACCTCCGGAAGAGACGAGTGCGGTAACACCGTTCACAGAGCTAGCCGGACGTCCTCCGACTCAAG___ATATTTGTCAAATATTTTCAGAAGATGGCTGATCCTTGGCAGGAATGCATGGATTATGCAGTAACTCTAGCAAGACAAGCTGGAGAG___GTA)GTTTGTGAAGCTATAAAAAATGAAATGAATGTTATGCTGAAAAGTTCTCCAGTTGATTTGGTAACTGCTACGGACCAAAAAGTTGAAAAAATGCTTATCTCTTCCATAAAGGAAAAGTATCCATCTCACAG|GTCAATGTTGAATTTCACCAACCAAGATAATGCCTGCTAAATGATAA___ATATCAGAGCTCTTGTTTCTCAGACTTTGGACTTGGATTGAATTACACCACCCTCTGGATTTCCTGGTTCTCTACCTTGCAGATGACAGATCATGGGACTTCTC MADPWQECMDYAVTLARQAGEVVCEAIKNEMNVMLKSSPVDLVTATDQKVEKMLISSIKEKYPSHr|smlnftnqdnac* 11BR038 ENSG00000156273.16 ENSG00000136874.11 +/+ +/- chr21:29321567 chr9:99925746 intron intron translocation/5'-5' 13 9 0 17 19 medium stop-codon . BTB/POZ_domain(100%)| . . ENSG00000156273.16 ENSG00000136874.11 ENST00000286800.8 . downstream downstream duplicates(1) ^(AGTCAGTCGGGCCGCGCCGCGCCTCAGCTCTG___GTTGATG)ATAATTAGAAGCATGCTTTCCACTGAACTTCCCGACAACATTTGTTATGCAGAATGTCTCTGAGTGAGAACTCGGTTTTTGCCTATGAATCTTCTGTGCATAGCACCAATGTTTTACTCAGCCTTAATGACCAGCGGAAGAAAGATGTGCTGTGCGATGTCACCATCTTTGTGGAGGGACAGCGGTTCCGCGCTCACCGGTCCGTGCTGGCGGCATGCAGCAGTTACTTCCACTCAAGAATCGTAGGCCAGGCTGATGGAGAGCTGAACATTACTCTTCCAGAAGAGGTGAGAGATCCATGTTTTTGGCAATTTTAATCTACTTTTACTTAAGTTTTTTA|ATACGAAGAAACAAAGATAAGAATGACAGAAGACTTCTTGTGAGAAACAATCCAAGCCAGAAGACAGTGGGACAACATCTTGGAAGTATTCGAAAATGACAGAAAATGCAACCTAGAATTCTATCCCCAGAGAAAGTTGTTTTTTAAATAAGGC . 11BR038 ENSG00000156273.16 ENSG00000254571.1 +/+ -/- chr21:29321567 chr9:99925746 intron intron translocation 13 9 0 17 19 medium stop-codon . BTB/POZ_domain(100%)| . . ENSG00000156273.16 ENSG00000254571.1 ENST00000286800.8 . downstream downstream duplicates(1) ^(AGTCAGTCGGGCCGCGCCGCGCCTCAGCTCTG___GTTGATG)ATAATTAGAAGCATGCTTTCCACTGAACTTCCCGACAACATTTGTTATGCAGAATGTCTCTGAGTGAGAACTCGGTTTTTGCCTATGAATCTTCTGTGCATAGCACCAATGTTTTACTCAGCCTTAATGACCAGCGGAAGAAAGATGTGCTGTGCGATGTCACCATCTTTGTGGAGGGACAGCGGTTCCGCGCTCACCGGTCCGTGCTGGCGGCATGCAGCAGTTACTTCCACTCAAGAATCGTAGGCCAGGCTGATGGAGAGCTGAACATTACTCTTCCAGAAGAGGTGAGAGATCCATGTTTTTGGCAATTTTAATCTACTTTTACTTAAGTTTTTTA|ATACGAAGAAACAAAGATAAGAATGACAGAAGACTTCTTGTGAGAAACAATCCAAGCCAGAAGACAGTGGGACAACATCTTGGAAGTATTCGAAAATGACAGAAAATGCAACCTAGAATTCTATCCCCAGAGAAAGTTGTTTTTTAAATAAGGC . 11BR038 ENSG00000160310.18 ENSG00000141736.13 +/+ +/+ chr21:46636990 chr17:39706990 CDS/splice-site CDS/splice-site translocation 10 8 0 330 3470 medium out-of-frame . |Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%) . . ENSG00000160310.18 ENSG00000141736.13 ENST00000451211.6 ENST00000541774.5 downstream upstream . ^(ACTGCGCCTGCGCGGGGCGCCGGGCCCTGGGCGGGGCCTTCCCGGCTGACGGCCTGCGTGCACTGCGCTTGCGCGGGTTGAGGGCGGTGG)CTCAGGCTCCTGGAAAGGACCGTCCACCCCTCCGCGCTGGCGGTGTGGACGCGGAACTCAGCGGAGAAACGCGATTGAG___AAATGGAAAAGAAAATGAAATAAATCAGCAGTTATGAGGCAGAGCCTAAGAGAACTATGGCAACATCAGGTGACTGTCCCAGAAGTGAATCGCAG|TGTGCACCGGCACAGACATGAAGCTGCGGCTCCCTGCCAGTCCCGAGACCCACCTGGACATGCTCCGCCACCTCTACCAGGGCTGCCAGGTGGTGCAGGGAAACCTGGAACTCACCTACCTGCCCACCAATGCCAGCCTGTCCTTCCTGCAG___GATATCCAGGAGGTGCAGGGCTACGTGCTCATCGCTCACAACCAAGTGAGGC(AGGTCCCACTGCAGAGGCTGCGGATTGTGCGAGGCACCCAGCTCTTTGAGGACAACTATGCCCTGGCCGTGCTAGACAATGGAGACCCGCTGAACAATACCACCCCTGTCACAGGGGCCTCCCCAGGAGGCCTGCGGGAGCTGCAGCTTCGAAGCCTCACAG___AGATCTTGAAAGGAGGGGTCTTGATCCAGCGGAACCCCCAGCTCTGCTACCAGGACACGATTTTGTGGAAGGACATCTTCCACAAGAACAACCAGCTGGCTCTCACACTGATAGACACCAACCGCTCTCGGGCCT___GCCACCCCTGTTCTCCGATGTGTAAGGGCTCCCGCTGCTGGGGAGAGAGTTCTGAGGATTGTCAGAGCC___TGACGCGCACTGTCTGTGCCGGTGGCTGTGCCCGCTGCAAGGGGCCACTGCCCACTGACTGCTGCCATGAGCAGTGTGCTGCCGGCTGCACGGGCCCCAAGCACTCTGACTGCCTG___GCCTGCCTCCACTTCAACCACAGTGGCATCTGTGAGCTGCACTGCCCAGCCCTGGTCACCTACAACACAGACACGTTTGAGTCCATGCCCAATCCCGAGGGCCGGTATACATTCGGCGCCAGCTGTGTGACTGCCTGTCCCT___ACAACTACCTTTCTACGGACGTGGGATCCTGCACCCTCGTCTGCCCCCTGCACAACCAAGAGGTGACAGCAGAGGATGGAACACAGCGGTGTGAGAAGTGCAGCAAGCCCTGTGCCCGAG___TGTGCTATGGTCTGGGCATGGAGCACTTGCGAGAGGTGAGGGCAGTTACCAGTGCCAATATCCAGGAGTTTGCTGGCTGCAAGAAGATCTTTGGGAGCCTGGCATTTCTGCCGGAGAGCTTTGATGG___GGACCCAGCCTCCAACACTGCCCCGCTCCAGCCAGAGCAGCTCCAAGTGTTTGAGACTCTGGAAGAGATCACAG___GTTACCTATACATCTCAGCATGGCCGGACAGCCTGCCTGACCTCAGCGTCTTCCAGAACCTGCAAGTAATCCGGGGACGAATTCTGCACAA___TGGCGCCTACTCGCTGACCCTGCAAGGGCTGGGCATCAGCTGGCTGGGGCTGCGCTCACTGAGGGAACTGGGCAGTGGACTGGCCCTCATCCACCATAACACCCACCTCTGCTTCGTGCACACGGTGCCCTGGGACCAGCTCTTTCGGAACCCGCACCAAGCTCTGCTCCACACTGCCAACCGGCCAGAGGACGAGTGTG___TGGGCGAGGGCCTGGCCTGCCACCAGCTGTGCGCCCGAGGGCACTGCTGGGGTCCAGGGCCCACCCAGTGTGTCAACTGCAGCCAGTTCCTTCGGGGCCAGGAGTGCGTGGAGGAATGCCGAGTACTGCAGGG___GCTCCCCAGGGAGTATGTGAATGCCAGGCACTGTTTGCCGTGCCACCCTGAGTGTCAGCCCCAGAATGGCTCAGTGACCTGTTTTGGACCG___GAGGCTGACCAGTGTGTGGCCTGTGCCCACTATAAGGACCCTCCCTTCTGCGTGGCCCGCTGCCCCAGCGGTGTGAAACCTGACCTCTCCTACATGCCCATCTGGAAGTTTCCAGATGAGGAGGGCGCATGCCAGCCTTGCCCCATCAACTGCACCCACTC___CTGTGTGGACCTGGATGACAAGGGCTGCCCCGCCGAGCAGAGAGCCAG___CCCTCTGACGTCCATCATCTCTGCGGTGGTTGGCATTCTGCTGGTCGTGGTCTTGGGGGTGGTCTTTGGGATCCTCATCAAGCGACGGCAGCAGAAGATCCGGAAGTACACGATGCGGAGACTGCTGCAGGAAACGGAG___CTGGTGGAGCCGCTGACACCTAGCGGAGCGATGCCCAACCAGGCGCAGATGCGGATCCTGAAAGAGACGGAGCTGAGGAAGGTGAAGGTGCTTGGATCTGGCGCTTTTGGCACAGTCTACAAG___GGCATCTGGATCCCTGATGGGGAGAATGTGAAAATTCCAGTGGCCATCAAAGTGTTGAGGGAAAACACATCCCCCAAAGCCAACAAAGAAATCTTAGAC___GAAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCCCGCCTTCTGGGCATCTGCCTGACATCCACGGTGCAGCTGGTGACACAGCTTATGCCCTATGGCTGCCTCTTAGACCATGTCCGGGAAAACCGCGGACGCCTGGGCTCCCAGGACCTGCTGAACTGGTGTATGCAGATTGCCAAG___GGGATGAGCTACCTGGAGGATGTGCGGCTCGTACACAGGGACTTGGCCGCTCGGAACGTGCTGGTCAAGAGTCCCAACCATGTCAAAATTACAGACTTCGGGCTGGCTCGGCTGCTGGACATTGACGAGACAGAGTACCATGCAGATGGGGGCAAG___GTGCCCATCAAGTGGATGGCGCTGGAGTCCATTCTCCGCCGGCGGTTCACCCACCAGAGTGATGTGTGGAGTTATG___GTGTGACTGTGTGGGAGCTGATGACTTTTGGGGCCAAACCTTACGATGGGATCCCAGCCCGGGAGATCCCTGACCTGCTGGAAAAGGGGGAGCGGCTGCCCCAGCCCCCCATCTGCACCATTGATGTCTACATGATCATGGTCAAAT___GTTGGATGATTGACTCTGAATGTCGGCCAAGATTCCGGGAGTTGGTGTCTGAATTCTCCCGCATGGCCAGGGACCCCCAGCGCTTTGTGGTCATCCAG___AATGAGGACTTGGGCCCAGCCAGTCCCTTGGACAGCACCTTCTACCGCTCACTGCTGGAGGACGATGACATGGGGGACCTGGTGGATGCTGAGGAGTATCTGGTACCCCAGCAGGGCTTCTTCTGTCCAGACCCTGCCCCGGGCGCTGGGGGCATGGTCCACCACAGGCACCGCAGCTCATCTACCAGG___AGTGGCGGTGGGGACCTGACACTAGGGCTGGAGCCCTCTGAAGAGGAGGCCCCCAGGTCTCCACTGGCACCCTCCGAAGGGGCTGGCTCCGATGTATTTGATGGTGACCTGGGAATGGGGGCAGCCAAGGGGCTGCAAAGCCTCCCCACACATGACCCCAGCCCTCTACAGCGGTACAGTGAGGACCCCACAGTACCCCTGCCCTCTGAGACTGATGGCTACGTTGCCCCCCTGACCTGCAGCCCCCAGCCTG___AATATGTGAACCAGCCAGATGTTCGGCCCCAGCCCCCTTCGCCCCGAGAGGGCCCTCTGCCTGCTGCCCGACCTGCTGGTGCCACTCTGGAAAGGCCCAAGACTCTCTCCCCAGGGAAGAATGGGGTCGTCAAAGACGTTTTTGCCTTTGGGGGTGCCGTGGAGAACCCCGAGTACTTGACACCCCAGGGAGGAGCTGCCCCTCAGCCCCACCCTCCTCCTGCCTTCAGCCCAGCCTTCGACAACCTCTATTACTGGGACCAGGACCCACCAGAGCGGGGGGCTCCACCCAGCACCTTCAAAGGGACACCTACGGCAGAGAACCCAGAGTACCTGGGTCTGGACGTGCCAGTGTGAACCAGAAGGCCAAGTCCGCAGAAGCCCTGATGTGTCCTCAGGGAGCAGGGAAGGCCTGACTTCTGCTGGCATCAAGAGGTGGGAGGGCCCTCCGACCACTTCCAGGGGAACCTGCCATGCCAGGAACCTGTCCTAAGGAACCTTCCTTCCTGCTTGAGTTCCCAGATGGCTGGAAGGGGTCCAGCCTCGTTGGAAGAGGAACAGCACTGGGGAGTCTTTGTGGATTCTGAGGCCCTGCCCAATGAGACTCTAGGGTCCAGTGGATGCCACAGCCCAGCTTGGCCCTTTCCTTCCAGATCCTGGGTACTGAAAGCCTTAGGGAAGCTGGCCTGAGAGGGGAAGCGGCCCTAAGGGAGTGTCTAAGAACAAAAGCGACCCATTCAGAGACTGTCCCTGAAACCTAGTACTGCCCCCCATGAGGAAGGAACAGCAATGGTGTCAGTATCCAGGCTTTGTACAGAGTGCTTTTCTGTTTAGTTTTTACTTTTTTTGTTTTGTTTTTTTAAAGATGAAATAAAGACCCAGGGGGAGAATGGGTGTTGTATGGGGAGGCAAGTGTGGGGGGTCCTTCTCCACACCCACTTTGTCCATTTGCAAATATATTTTGGAAAACAGCTA)$ MATSGDCPRSESQ|capaqt* 11BR038 ENSG00000167258.15 ENSG00000171532.5 +/+ -/+ chr17:39517556 chr17:39607836 CDS/splice-site 5'UTR deletion/read-through/5'-5' 5 4 1 1262 51 medium out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000167258.15 ENSG00000171532.5 ENST00000447079.6 . downstream upstream mismatches(1) ^(AAGTGCCGTTTCGGTTTAATCTAGTGTGTGACTGGGTCTGTGTGAGGGAGAGAGTGTGTGTGGTGTGGAGGTGAAACGGAGGCAAGAAAGGGGGCTACCTCAGGAGCGAGGGACAAAGGGGGCGTGAGGCACCTAGGCCGCGGCACCCCGGCGACAGGAAGCCGTCCTGAACCGGGCTACCGGGTAGGGGAAGGGCCCGCGTAGTCCTCGCAGGGCCCCAGAGCTGGAGTCGGCTCCACAGCCCCGGGCCGTCGGCTTCTCACTTCCTGGACCTCCCCGGCGCCCGGGCCTGAGGACTGGCTCGGCGGAGGGAGAAGAGGAAACAGACTTGAGCAGCTCCCCGTTGTCTCGCAACTCCACTGCCGAGGAACTCTCATTTCTTCCCTCGCTCCTTCACCCCCCACCTCATGTAGAAGGGTGCTGAGGCGTCGGGAGGGAGGAGGAGCCTGGGCTACCGTCCCTGCCCTCCCCACCCCCTTCCCGGGGCGCTTTGGTGGGCGTGGAGTTGGGGTTGGGGGGGTGGGTGGGGGTTGCTTTTTGGAGTGCTGGGGAACTTTTTTCCCTTCTTCAGGTCAGGGGAAAGGGAATGCCCAATTCAGAGAGACATGGGGGCAAGAAGGACGGGAGTGGAGGAGCTTCTGGAACTTTGCAGCCGTCATCGGGAGGCGGCAGCTCTAACAGCAGAGAGCGTCACCGCTTGGTATCGAAGCACAAGCGGCATAAGTCCAAACACTCCAAAGACATGGGGTTGGTGACCCCCGAAGCAGCATCCCTGGGCACAGTTATCAAACCTTTGGTGGAGTATGATGATATCAGCTCTGATTCCGACACCTTCTCCGATGACATGGCCTTCAAACTAGACCGAAGGGAGAACGACGAACGTCGTGGATCAGATCGGAGCGACCGCCTGCACAAACATCGTCACCACCAGCACAGGCGTTCCCGGGACTTACTAAAAGCTAAACAGACCGAAAAAGAAAAAAGCCAAGAAGTCTCCAGCAAGTCGGGATCGATGAAGGACCGGATATCGGGAAGTTCAAAGCGTTCGAATGAGGAGACTGATGACTATGGGAAGGCGCAGGTAGCCAAAAGCAGCAGCAAGGAATCCAGGTCATCCAAGCTCCACAAGGAGAAGACCAGGAAAGAACGGGAGCTGAAGTCTGGGCACAAAGACCGGAGTAAAAGTCATCGAAAAAGGGAAACACCCAAAAGTTACAAAACAGTGGACAGCCCAAAACGGAGATCCAGGAGCCCCCACAGGAAGTGGTCTGACAGCTCCAAACAAGATGATAGCCCCTCGGGAGCTTCTTATGGCCAAGATTATGACCTTAGTCCCTCACGATCTCATACCTCGAGCAATTATGACTCCTACAAGAAAAGTCCTGGAAGTACCTCGAGAAGGCAGTCGGTCAGTCCCCCTTACAAGGAGCCTTCGGCCTACCAGTCCAGCACCCGGTCACCGAGCCCCTACAGTAGGCGACAGAGATCTGTCAGTCCCTATAGCAGGAGACGGTCGTCCAGCTACGAAAGAAGTGGCTCTTACAGCGGGCGATCGCCCAGTCCCTATGGTCGAAGGCGGTCCAGCAGCCCTTTCCTGAGCAAGCGGTCTCTGAGTCGGAGTCCACTCCCCAG___TAGGAAATCCATGAAGTCCAGAAGTAGAAGTCCTGCATATTCAAGACATTCATCTTCTCATAGTAAAAAGAAGAGATCCAGTTCACGCAGTCGTCATTCCAGTATCTCACCTGTCAGGCTTCCACTTAATTCCAGTCTGGGAGCTGAACTCAGTAGGAAAAAGAAGGAAAGAGCAGCTGCTGCTGCTGCAGCAAAGATGGATGGAAAGGAGTCCAAGGGTTCACCTGTATTTTTGCCTAGAAAAGAGAACAGTTCAGTAGAGGCTAAGGATTCAGGTTTGGAGTCTAAAAAGTTACCCAGAAGTGTAAAATTGGAAAAATCTGCCCCAGATACTGAACTGGTGAATGTAACACATCTAAACACAGAGGTAAAAAATTCTTCAGATACAGGGAAAGTAAAGTTGGATGAGAACTCCGAGAAGCATCTTGTTAAAGATTTGAAAGCACAGGGAACAAGAGACTCTAAACCCATAGCACTGAAAGAGGAGATTGTTACTCCAAAGGAGACAGAAACATCAGAAAAGGAGACCCCTCCACCTCTTCCCACAATTGCTTCTCCCCCACCCCCTCTACCAACTACTACCCCTCCACCTCAGACACCCCCTTTGCCACCTTTGCCTCCAATACCAGCTCTTCCACAGCAACCACCTCTGCCTCCTTCTCAGCCAGCATTTAGTCAGGTTCCTGCTTCCAGTACTTCAACTTTGCCCCCTTCTACTCACTCAAAGACATCTGCTGTGTCCTCTCAGGCAAATTCTCAGCCCCCTGTACAGGTTTCTGTGAAGACTCAAGTATCTGTAACAGCTGCTATTCCACACCTGAAAACTTCAACGTTGCCTCCTTTGCCCCTCCCACCCTTATTACCTGGAGATGATGACATGGATAG___TCCAAAAGAAACTCTTCCTTCAAAACCTGTGAAGAAAGAGAAGGAACAGAGGACACGTCACTTACTCACAGACCTTCCTCTCCCTCCAGAGCTCCCTGGTGGAGATCTGTCTCCCCCAGACTCTCCAGAACCAAAGGCAATCACACCACCTCAGCAACCATATAAAAAGAGACCAAA___AATTTGTTGTCCTCGTTATGGAGAAAGAAGACAAACAGAAAGCGACTGGGGGAAACGCTGTGTGGACAAGTTTGACATTATTGGGATTATTGGAGAAGGAACCTATGGCCAAGTATATAAAGCCAAGGACAAAGACACAG___GAGAACTAGTGGCTCTGAAGAAGGTGAGACTAGACAATGAGAAAGAGGGCTTCCCAATCACAGCCATTCGTGAAATCAAAATCCTTCGTCAGTTAATCCACCGAAGTGTTGTTAACATGAAGGAAATTGTCACAGATAAACAAGATGCACTGGATTTCAAGAAGGACAAAG___GTGCCTTTTACCTTGTATTTGAGTATATGGACCATGACTTAATGGGACTGCTAGAATCTGGTTTGGTGCACTTTTCTGAGGACCATATCAAGTCGTTCATGAAACAGCTAATGGAAGGATTGGAATACTGTCACAAAAAGAATTTCCTGCATCGGGATATTAAGTGTTCTAACATTTTGCTGAAT)AACAG___TGGGCAAATCAAACTAGCAGATTTTGGcCaaGaTCGGCTCTATAACTCTGAAGAGAG___TCGCCCTTACACAAACAAAGaCATTACTaTcTGGTACCGACCTCCAGAACTACaGCTAGGAGAGGAACGTTACACACCAGCCATAGATGTTTGGAGCTGTGG___ATGTATTCTTGGGGAACTATTCACAAAGAAGCCTATTTTTCAAGCCAATCTGGAACTGGCTCAGCTAGAACTGATCAG___CCGACTTTGTGGTAGCCCTTGTCCAGCTGTGTGGCCTGATGTTATCAAACTGCCCTACTTCAACACCATGAAACCGAAGAAGCAATATCGAAGGCGTCTACGAGAAGAATTCTCTTT|GGAGCGGGGGCAGCGGCTCCTCAAGGCGGCGGGCGCCGGCGTCTTCAGAGCGCCATGCGAACCGCGGAGCGAGTGTGGCATCTCTACCAGGCGGGGTACCAGCCTCTATGCCAGGCCATATGGGCTTGGCACGTCACGGGCAGCAGCTATCACATGAGAGACGGTGAT MPNSERHGGKKDGSGGASGTLQPSSGGGSSNSRERHRLVSKHKRHKSKHSKDMGLVTPEAASLGTVIKPLVEYDDISSDSDTFSDDMAFKLDRRENDERRGSDRSDRLHKHRHHQHRRSRDLLKAKQTEKEKSQEVSSKSGSMKDRISGSSKRSNEETDDYGKAQVAKSSSKESRSSKLHKEKTRKERELKSGHKDRSKSHRKRETPKSYKTVDSPKRRSRSPHRKWSDSSKQDDSPSGASYGQDYDLSPSRSHTSSNYDSYKKSPGSTSRRQSVSPPYKEPSAYQSSTRSPSPYSRRQRSVSPYSRRRSSSYERSGSYSGRSPSPYGRRRSSSPFLSKRSLSRSPLPSRKSMKSRSRSPAYSRHSSSHSKKKRSSSRSRHSSISPVRLPLNSSLGAELSRKKKERAAAAAAAKMDGKESKGSPVFLPRKENSSVEAKDSGLESKKLPRSVKLEKSAPDTELVNVTHLNTEVKNSSDTGKVKLDENSEKHLVKDLKAQGTRDSKPIALKEEIVTPKETETSEKETPPPLPTIASPPPPLPTTTPPPQTPPLPPLPPIPALPQQPPLPPSQPAFSQVPASSTSTLPPSTHSKTSAVSSQANSQPPVQVSVKTQVSVTAAIPHLKTSTLPPLPLPPLLPGDDDMDSPKETLPSKPVKKEKEQRTRHLLTDLPLPPELPGGDLSPPDSPEPKAITPPQQPYKKRPKICCPRYGERRQTESDWGKRCVDKFDIIGIIGEGTYGQVYKAKDKDTGELVALKKVRLDNEKEGFPITAIREIKILRQLIHRSVVNMKEIVTDKQDALDFKKDKGAFYLVFEYMDHDLMGLLESGLVHFSEDHIKSFMKQLMEGLEYCHKKNFLHRDIKCSNILLNNSGQIKLADFGqdRLYNSEESRPYTNKdITiWYRPPELqLGEERYTPAIDVWSCGCILGELFTKKPIFQANLELAQLELISRLCGSPCPAVWPDVIKLPYFNTMKPKKQYRRRLREEFSl|ergqrllkaagagvfrapceprsecgistrrgtslyarpyglgtsraaait* 11BR038 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 3 6 0 25 12 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCC)CATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAA...___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATGGCCACTCAGACTCCTGCTGGATGCCGGTCCGCACTTCTCCGGAGAGG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplped 11BR038 ENSG00000173065.13 ENSG00000280441.3 -/- +/+ chr17:28842682 chr21:8450147 5'UTR/splice-site exon/splice-site translocation 0 9 0 34 226 medium . . . . . ENSG00000173065.13 ENSG00000280441.3 ENST00000581407.5 ENST00000651813.1 upstream upstream . ^(ACACGCTGCGCAGGCGCAGGAGCGGCTCCGGGTAGTCCCCACAGCTGCGCCGG)TGACTGAGGGGCCGGGCAGTGGAGAAGTGGTGGCGGCGGGCGGCGGGCGGCAAAGGAGCAGCCATGAGGGCCGGGCCCAGTCACCGACC|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCCGGCT(AATTTTTCTATTTTTACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ . 11BR038 ENSG00000173065.13 ENSG00000280441.3 -/- +/+ chr17:28812209 chr21:8450147 5'UTR/splice-site exon/splice-site translocation 0 8 0 78 226 medium . . . . . ENSG00000173065.13 ENSG00000280441.3 ENST00000452648.7 ENST00000651813.1 upstream upstream . ^(AGCCGGCTGGGGGAGGGGGTGTCGGCGCACCGCGGAGTCCTGCGCTCCGTGAGCCTGGCACCCGGAGCAGCCGCCTCCCCCTCCCCCTGCCTAGACCGCTAGAAGCCCCCTCTCTTCCATCCTCCCGGGGCGGGGGTGAGCTGGGCTCAGCTGCCCAAGGCGGGCGGGGCGGAGCC)AGGAGCCCCACGGAGCGCTGCGGAGCGAACCTCACCTTTCCAGGGCGCAAG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCCGGCTAATTTTTCTATTTTT(ACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ . 11BR038 ENSG00000173065.13 ENSG00000280441.3 -/- +/+ chr17:28834293 chr21:8450147 5'UTR/splice-site exon/splice-site translocation 0 4 0 20 226 medium . . . . . ENSG00000173065.13 ENSG00000280441.3 ENST00000583953.5 ENST00000651813.1 upstream upstream . ^(GATTGAACAGAGCGGCTGACGAACCAGCGAGTAGGAGAGAG___)GTGCTGAGGAGTCATGGAAGAGTTTTTAAACCAG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCC(AGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCCGGCTAATTTTTCTATTTTTACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ . 11BR038 ENSG00000106554.13 ENSG00000106554.13 -/+ -/- chr7:132808065 chr7:132785660 intron CDS/splice-site inversion/3'-3' 3 6 0 7 292 medium . . . . . ENSG00000106554.13 ENSG00000106554.13 . ENST00000262570.10 downstream downstream . CGTTTTGTGGCACTAAATAGAAAACTGATTGAAAACTTAAAGACGACAGATATGAAATCCCACATGCAAACTCTACACAAAGACCAAAAT|AGCATGCTTGAGAAGGGAGGATAAAAACTTTCAGAATGAGCAAAACACCATCAACGTTAATTCCAGAGATGGAACATTTTTTTTCCTAGTGAGAAAACAACCCATTTGAAGAGAAGACCACTAATGAGAAGACCACTAAAGAGAGACATCAAGAATGGATTCAGCAGAATCATTTCACGTTTTGAACAGCAGCAGTTTGAAGGGCCAAAGCCTTGATCAGG(GATCAGTCATTAAAGGACACTCTTGAGTATTAGTAAACCCTCTTATGATGATTAAAAGAGAAGGGCAGCCCTCTCCACCTTTTGGTACTTTCTATTCAACTTGCACTGACCATAAAATGTTTCTCTTCTGAACAAGCCCCATCATTTGGTGAACCTCCACCCTAACAAAGTAGGATGGGGTTGGGGGCTAAATTAATTGGAGTGGGGCGAGGAGAGAGCCAGAAAACATAGATCCGAGGGCAGCAGTGCTGGGTGGAGAGAGCCAGAAAACAGATCTGGAGGCAGCAGTGCTGGATGGAATTGTCTAGGCTGTGGCATGTTGGTTTTGTCTTTCTTTTCTCCTTTGATTATGTAAGAGCTATTTCATTATAACTTATTATGGTGATTATACAGGCAAGAAGACAAAAAGGAGAGAAAATGTACCTCTTCTACTGGAATAATGTTTATGATTACAAGTGAGATAAGGTATTTTTATCAATATGAAGGCAACCTTGGCTGATAAAACCTCTATAGTGAATACTCACATCTTTACTTCACTCACTATCAATAATAAATATATTTTCTGACAAA)$ . 11BR038 ENSG00000141738.14 ENSG00000274487.2 +/+ -/- chr17:39738392 chr17:38202981 5'UTR/splice-site exon/splice-site inversion 0 9 0 971 902 medium . . . . . ENSG00000141738.14 ENSG00000274487.2 ENST00000394211.7 ENST00000620148.2 downstream downstream . ^CGTCTCCCTCCCTGAAGACGTGGTCCCAGCCGGGTGTCCTGACGCTCGGGGTTCAG|AATGTAATTGACCGGAAACCATACCCTGATGATGAAAATTTAGTGGAAGTGAAGTTTGCCCGCACACCTGTTACATCTACATATCTGGTGGCATTTGTTGTGGGTGAATATGACTTTGTAGAAACAAGGTCAAAAGATGGTGTGTGTGTCTGTGTTTACACTCCTGTTGGCAAAGCAGAACAAGGAAAATTTGCATTAGAGG(TAAATGTACTTGAAGAGGATTGTTCCAGCAGTCCATAACTCCAG___GTTGCTGCTAAAACCTTGCCTTTTTATAAGGACTACTTCAATGTTCCTTATCCTCTACCTAAAATTGATCTCATTGCTATTGCAGACTTTGCAGCTG___GTGCCATGGAGAACTGGGACCTTGTTACTTATAG___GGAGACTGCATTGCTTATTGATCCAAAAAATTCCTGTTCTTCATCCCGCCAGTGGGTTGCTCTGGTTGTGGGACATGAACTTGCCCATCAATGGTTTGGAAATCTTGTTACTATG___GAATGGTGGACTCATCTTTGGTTAAATGAAGGTTTTGCATCCTGGATTGAATATCTGTGTGTAGACCACTGCTTCCCAGAGTATGATATTTGGACTCAGTTTGTTTCTGCTGATTACACCCGTGCCCAGGAGCTTGACGCCTTAGATAACAGCCATCCTATTGAA___GTCAGTGTGGGCCATCCATCTGAGGTTGATGAGATATTTGATGCTATATCATATAGCAAAGGTGCATCTGTCATCCGAATGCTGCATGACTACATTGGGGATAAG___GACTTTAAGAAAGGAATGAACATGTATTTAACCAAGTTCCAACAAAAGAATGCTGCCGCAGGTAATCTT)$ . 11BR038 ENSG00000141738.14 ENSG00000274487.2 +/+ -/- chr17:39738133 chr17:38202981 5'UTR/splice-site exon/splice-site inversion 1 4 0 646 902 medium . . . . . ENSG00000141738.14 ENSG00000274487.2 ENST00000309156.9 ENST00000649858.1 downstream downstream . ^(AGTTTCCTTGGGCCTGGAATCTGGACACACAGGGCTCCCCCCCGCCTCTGACTTCTCTGTCCGAAGTCGGGACACCCTCCTACCACCTGTAGAGAAGCGGGAGTGGATCTGAAATAAAATCCAGGAAT)CTGGGGGTTCCTAGACGGAGCCAGACTTCGGAACGGGTGTCCTGCTACTCCTGCTGGGGCTCCTCCAG|AATGTAATTGACCGGAAACCATACCCTGATGATGAAAATTTAGTGGAAGTGAAGTTTGCCCGCACACCTGTTACATCTACATATCTGGTGGCATTTGTTGTGGGTGAATATGACTTTGTAGAAACAAGGTCAAAAGATGGTGTGTGTGTCTGTGTTTACACTCCTG(TTGGCAAAGCAGAACAAGGAAAATTTGCATTAGAG___GTTGCTGCTAAAACCTTGCCTTTTTATAAGGACTACTTCAATGTTCCTTATCCTCTACCTAAAATTGATCTCATTGCTATTGCAGACTTTGCAGCTG___GTGCCATGGAGAACTGGGACCTTGTTACTTATAG___GGAGACTGCATTGCTTATTGATCCAAAAAATTCCTGTTCTTCATCCCGCCAGTGGGTTGCTCTGGTTGTGGGACATGAACTTGCCCATCAATGGTTTGGAAATCTTGTTACTATG___GAATGGTGGACTCATCTTTGGTTAAATGAAGGTTTTGCATCCTGGATTGAATATCTGTGTGTAGACCACTGCTTCCCAGAGTATGATATTTGGACTCAGTTTGTTTCTGCTGATTACACCCGTGCCCAGGAGCTTGACGCCTTAGATAACAGCCATCCTATTGAA___GTCAGTGTGGGCCATCCATCTGAGGTTGATGAGATATTTGATGCTATATCATATAGCAAAGGTGCATCTGTCATCCGAATGCTGCATGACTACATTGGGGATAAG___GACTTTAAGAAAGGAATGAACATGTATTTAACCAAGTTCCAACAAAAGAATGCTGCCGCAGGTAATCTTTAATAGCTTGAGATAGAAATGGAGAGAAAGTATTGTCACTCTATCCAGGCTGGGACATTTTATTTTTGTTCTGAATACTTAACTCAAGGTCAGGATCCATGTAATAAATAAATTAGCCTTATTTGAAGCTGTGTTCAGGTTGAATATCTCTAATCTGAAATTTGAAATG)$ . 11BR038 ENSG00000278540.5 ENSG00000167920.10 -/- +/+ chr17:37179260 chr17:40833115 CDS/splice-site exon/splice-site inversion 8 0 0 1108 534 medium out-of-frame . Acetyl-CoA_carboxylase__central_region(100%),Biotin-requiring_enzyme(100%),Biotin_carboxylase_C-terminal_domain(100%),Biotin_carboxylase__N-terminal_domain(100%),Carbamoyl-phosphate_synthase_L_chain__ATP_binding_domain(100%)| . . ENSG00000278540.5 ENSG00000167920.10 ENST00000616317.5 ENST00000668620.1 upstream upstream mismatches(1) ^(GCCGCCTCCGCCCCTCGGCCGTGGAGGCCCCCGCCGGGTGCTGAGCGCCCGCCACCGCCCTCTTGGCCTTTTCCCGGTCCCCGCCGCGCGCCTGCTGCTGTCCCCGTGCCCGAGGACTGGGAGGATGGGGCTGAGCCGCTTGCCTGACTTTTGATCCGACCAGTAATCACTTTGCCCGTGTGGCGCGTGGCCCGTTGCCTGAGGCTTCCTGGCGCGTGGGGCTGTTTGGTCCCCTCCGGAGTGCGGTGAGGCGGGCCGAGCCGGGACTGCCTGGGTTTGGGGATAACGTTCCCATCTCCACCCCTGTTGCAGCAAGGGAAATTGAGGCTGAGGGAACTGGGCCCAGGGACGGCGAGCCGTGGCGCCTCTCCAGTCCGGGCCCCGAAGGGCTGCTCGTGGATGAACCAGACTGATTTTAAGGGGTGAAGAGGGTGCGTTTCAATCAGATGCTCCTGGAACGTCGAAATTGTCTTCTTTGGAAAGAACCATCCCCTCTTTGGGCTTCAGAGGCCCAAATTGAGGCGCAATGATGAGAGGATGTGGTGGTCTACTCTGATGTCAATCTTGAGGGCTAG___GTCTTTTTGGAAGTGGATATCTACTCAGACAGTAAGAATTATAAGAG___CTGTAAGAGCTCATTTTGGAGGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAGATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAGATACACTCTCTGATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAG___GTCCAGCATGTCTGGCTTGCACCTAGTAAAGCAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAGTGATTGAGAAG___GTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGAAATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAG___AATACATTAAGATGGCAGATCACTATGTGCCAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAA___GCAGTGTGGGCTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGG___GTCCTCCAAGCCAGGCCATGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTG___GTCTTCGTGTGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATGGGCTACAG___GCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATGCAGATGACTTCCCTAATCTCTTCAGACAG___GTTCAAGCTGAAGTTCCTGGATCTCCCATATTTGTGATGAGACTAGCCAAACAATCTCGTCATCTGGAGGTGCAGATCTTAGCGGACCAATATGGCAATGCTATCTCTTTGTTTGGTCGTGATTGCTCTGTACAACGCAGGCATCAGAAGATTATTGAAGAAGCACCTGCTACTATTGCTACTCCAGCAGTATTTGAACACATGGAACAG___TGTGCGGTGAAACTTGCCAAAATGGTGGGTTATGTGAGTGCTGGGACTGTGGAATACCTGTACAGCCAGGATGGCAGCTTCTACTTTCTGGAATTGAATCCTCGGCTGCAGGTAGAGCACCCTTGTACAGAGATGGTGGCTGATGTCAATCTCCCTGCAGCACAGCTCCAG___ATTGCCATGGGGATTCCTCTATATAGAATCAAGGATATCCGTATGATGTATGGGGTATCTCCCTGGGGTGATTCTCCCATTGATTTTGAAGATTCTGCACACGTTCCTTGTCCAAGGGGCCATGTTATTGCTGCTCGGATCACTAGTGAAAATCCAGATGAG___GGTTTTAAGCCCAGCTCAGGAACAGTTCAGGAGCTAAATTTCCGCAGCAATAAGAATGTTTGGGGATATTTCAGTGTTGCTGCTGCAGGGGGACTTCATGAATTTGCTGATTCTCAGTTTGGTCACTGCTTTTCTTGGGGAGAAAACAGAGAAGAGGCAATTTC___AAACATGGTGGTGGCTTTGAAGGAGCTGTCTATTCGGGGTGACTTTCGAACTACAGTTGAATACCTGATCAAATTGTTAGAGACTGAAAGCTTTCAGATGAACAGAATTGATACTGGCTGGCTGGACAGACTGATAGCAGAAAAAGTACAG___GCTGAGCGACCTGACACCATGTTGGGGGTTGTGTGTGGTGCCCTCCACGTGGCAGATGTGAGCCTGCGGAATAGCGTCTCTAACTTCCTTCACTCCTTAGAAAG___GGGTCAAGTCCTTCCTGCTCATACACTTCTGAATACAGTAGATGTTGAACTTATCTATGAGGGAGTCAAGTATGTACTTAAG___GTGACTCGACAGTCCCCCAACTCCTATGTGGTGATCATGAATGGCTCATGTGTAGAAGTAGATGTACATCGGCTGAGTGACGGTGGACTGCTCTTGTCCTATGATGGCAGCAGTTATACTACGTATATGAAAGAGGAAGTGGATAG___ATATCGCATCACAATTGGCAATAAAACCTGTGTGTTTGAGAAGGAAAATGACCCATCGGTGATGCGCTCACCTTCTGCTGGGAAGTTAATCCAGTACATTGTAGAAGATGGAGGTCATGTGTTTGCCGGCCAGTGCTATGCTGAGATTGAG___GTAATGAAGATGGTAATGACCTTAACAGCTGTGGAGTCTGGCTGTATCCATTACGTCAAGCGACCTGGAGCAGCTCTTGACCCTGGCTGTGTACTAGCCAAAATGCAACTGGACAACCCCAGCAAGGTTCAGCAG___GCTGAACTTCACACAGGTAGTCTGCCACGGATCCAGAGCACGGCACTCAGAGGCGAGAAACTCCATCGAGTGTTCCATTATGTCCTGGATAATCTGGTCAATGTAATGAATGGATACTGCCTTCCAGATCCTTTCTTTAGCAGCAAG___GTAAAAGACTGGGTAGAGCGATTGATGAAAACCCTCAGAGATCCCTCCCTGCCTCTCCTAGAATTGCAAGATATTATGACCAGTGTGTCTGGCCGCATTCCCCCCAATGTGGAGAAGTCTATCAAGAAGGAAATGGCTCAGTATGCTAGCAACATCACATCAGTCCTCTGTCAGTTTCCCAGCCAGCAG___ATTGCAAACATCCTAGATAGCCATGCAGCTACATTGAACCGGAAATCTGAACGGGAAGTCTTCTTTATGAATACTCAGAGCATTGTTCAGCTGGTACAGAG___GTACCGAAGTGGCATCCGAGGCCACATGAAGGCTGTGGTGATGGATCTGCTCCGGCAGTACCTGCGAGTAGAGACACAATTCCAGAATG___GTCACTATGACAAATGTGTATTCGCCCTCCGAGAAGAGAATAAAAGTGACATGAACACTGTACTGAACTACATCTTCTCTCACGCTCAAGTCACCAAGAAGAATCTTCTGGTCACAATGCTTATT___GATCAGTTGTGTGGCCGGGACCCTACTCTCACTGATGAGCTGCTGAATATTCTCACAGAGCTAACTCAACTCAGTAAGACCACCAATGCCAAAGTAGCACTTCGAGCACGCCAG___GTTCTTATTGCCTCCCATTTGCCATCATATGAGCTTCGCCATAACCAAGTAGAGTCTATCTTCCTATCAGCTATTGACATGTATGGACATCAATTTTGCATTGAGAACCTGCAG___AAACTCATCCTATCAGAAACATCTATTTTTGATGTCCTACCAAACTTCTTCTATCACAGCAACCAAGTAGTGAGGATGGCAGCTCTGGAG___GTGTATGTTCGAAGGGCTTATATTGCCTATGAACTTAACAGCGTACAACACCGCCAGCTTAAGGACAACACCTGTGTGGTGGAATTCCAGTTCATGCTGCCCACATCTCATCCAAACAG___AGGGAACATCCCTACGCTAAACAG___AATGTCCTTCTCCTCCAACCTCAACCACTATGGCATGACCCATGTAGCTAGTGTCAGCGATGTACTGTTGGACAACTCATTCACTCCACCTTGTCAGCGGATGGGCGGAATGGTCTCTTTTCGGACTTTTGAAGATTTTGTCAG___GATCTTTGATGAAGTGATGGGCTGCTTCTCTGACTCCCCACCCCAGAGTCCCACATTCCCTGAGGCAGGTCACACGTCTCTTTATGATGAGGATAAG___GTTCCCAGGGATGAACCAATTCACATTCTCAATGTGGCTATCAAGACTGACTGTGATATTGAGGATGACAGGCTGGCAGCTATGTTCAGAGAATTTACCCAGCAAAAT___AAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAG___GATTTCAGAAAGCAGGTCAACTATGAGGTGGATCGGAGATTTCAT___AGAGAATTCCCTAAATTTTTTACATTCCGAGCAAGGGATAAG___TTTGAGGAGGATCGTATCTATCGTCATCTGGAGCCTGCTCTGGCTTTCCAGTTAGAGCTGAACCGGATGAGAAATTTTGACCTCACTGCCATTCCATGTGCTAATCACAAGATGCACCTGTATCTCGGGGCAGCCAAGGTGGAAGTGGGCACAGAAGTGACAGACTACAGGTTCTTTGTTCGTGCAATCATCAGGCATTCTGATCTGGTCACCAAG___GAAGCTTCTTTTGAATATCTGCAAAATGAAGGGGAGCGGCTACTCCTGGAAGCCATGGATGAGTTGGAAGTTGCTTTTAACAATACAAATGTCCGCACTGACTGTAACCACATCTTCCTCAACTTTGTGCCCACGGTTATCATGGACCCATCAAAG___ATTGAGGAATCCGTGCGGAGCATGGTAATGCGGTATGGAAGTCGCCTGTGGAAATTGCGCGTCCTCCAGGCAGAACTGAAAATCAACATTCGCCTGACGCCAACTGGAAAAGCAATTCCCATCCGCCTCTTCCTGACAAACGAGTCTGGCTATTACTTGGATATCAGCCTATACAAGGAAGTGACTGACTCCAGGACAGCACAG___ATCATGTTTCAGGCATATGGAGACAAACAGGGACCA)CTGCATGGAATGTTAATCAATACTCCATATGTGACCAAAGACCTGCTGCAATCAAAGAGGTTCCAGGCACAATCCTTAGGGACAACATACATATATGATATCCCAGAGATGTTTCGGCAG___TCCCTGATCAAACTCTGGGAGTCTATGTCCACTCAAGCATTTCTTCCATCTCCCCCTCTGCCTTCTGACATGCTGACTTACACTGAACTGGTACTGGATGATCAAGGTCAGCTGGTCCACATGAACAGGCTTCCAGGAGGAAATGAG|ATGGAGCTAACACCCATTATGGAGATTAACCACTTTTCATCAGGTTTTTAACTTAAGTCGTGAGGAATACAACGGTGAACACAAG___ATTCATTTTATTTTCATCACCATGGG(ACGTATCCTGTTGTTGAGTTCTCTGGGTCAGACCTCTGAAGACTTCTCAGATGGATCCTAGTCTCTGGGCTTGCCCTGAAATTACTCGCTGCTCAGGGAGAGAGTTGAAATGGTTGGCATCCTCCCACTCTGTTGCTCCGGCTGTGTCCCCTCGCTCTGTTGTTCCAGCTATGTGCCCTCTGTTGCTCCAACTGCAGCTCATTCTGTTAGAGTTCCTCATTCAGCTGGTCACTGTGGCCAGAGGGTGTTGGCCTGCTCCCTTCCTCAAGTATTCTTAAAGCCATGGATTTTTGTGGAGCATTTTTCTTCCTGGCTCTCCCTTGAGTTATTTTCCTTTCTTCGCTATCTTGGGACTCTTCTTTGTGCTTGCGGTCATCGGTTGAGAGAAGGACTTCTTCTTCCTTGTCTCCTTGGTGTTGGCTCGTGGTTGCTCTTCAACAACTGGACTGGAGGCTCTTGGTTTTCTCTTCATCTTCAACAAGTCAGTCTCTCTCAAGGGTCTCACGTTGCAGCATTCTTACCAGAGGCCATTGGGCCTGGAGTTCCAGTTCCAGTGTCTGGAGAGTCCACCTCAGCTCAGCAATCTCATGCCGGTTGGCAATTGTCAGCAGAAGCCGATGCCTGCCCATCAGTTCTTTACTCTGAGGTGTTAGAGTGGAATAAAAATATAAATACTTATACTAGTTTTCATGACTTCTGCTTAATATTGGGTATTTTTTTGTTTTGTTTTGTTTTGGCGGTGATAGGCTTACCTTACATTAAACCAGGCCTTAGCCTTTCTGTGGCTTTGTTATGGCAAAGCCTCATATTACTCTCTAGTCTGGTTCAGCAGGACAGTCAGGTCCACACCTGGGGCTGTTTGTTTTCTACGTTTACCTCAACATAAGGTACCTTATCATTGTCAGCCTTCATCTCCTGATCCAAAATAAAATAAAATGCCACAGGTTACTTGATTTTGCATCTGGAATATGATTATTTAAAGAAATTAAAAATTTAAAACTGAAAATGTAGAGTTTAGAAATCTTTTTTAAGGTTTCAAAAAAATTTCTAGGAGACAACAAAATAGTGTTACTAGATTTAGCAAATAAAATACAGAATGCCAATTAAATTTGAATTTCAAATGAACATTGAATACTTTTTTTGGTATAACTATATTCCATGCAATATTTGGGACATATCTGTTATATTATTCATTGTTTACCTGAAATTATAATTTAAACTGAGAGTTCTGTATTTTATCTGGCAACCTTATTATGAAAATATTTAGGATCAATATAAAGGAATAATATTTTTAATTTTTACAAACTATTTTAATATAAGTAATTTATTTGATTTTCATTGTCATCCTGAGAGTTAAGTTTTGCCTTACAGTCTATGTTACTTTACCTGTGTTTTATGAAAAGACTGTCTCTTATAATGATAGCCACCACCACCATATCTTGACAAGTATTGACATACTGAAACTTTAAATTCATTTTGTGTAGTTCCCGCCTCTTCATGATTGTTTCTGAGGTAATTCAGCTTCTCCGTCTGGCTTTCCATTTTCAACTCTAGGTTAGTCTTGTTCAAAGTCAACTCATCTAAGACACTTCGCAGGCCCTTGCTATCAGCCTCAACACAGTGATAAAGGACAACTTTACTCTGGCATCTGAACAGAGCCCAATTGGAAGAATCAATACAGCTTAGATGGAGGTCTCCTCATCCAGTGGTAATAAAACATCCCACATAGTGGAGCTTAGAGAGCACAGCACTGGGATGTGAAGACATGGGTTCAAATTGCACCTCTGCCATGTTCAGCTGTCACCTTGGGCAAATTACTTCTCTGAACCTTAGTTTTCTCATCATTAAAATGGGAATAT)$ MWWSTLMSILRARSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGISSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFVVMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKIASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLFRQVQAEVPGSPIFVMRLAKQSRHLEVQILADQYGNAISLFGRDCSVQRRHQKIIEEAPATIATPAVFEHMEQCAVKLAKMVGYVSAGTVEYLYSQDGSFYFLELNPRLQVEHPCTEMVADVNLPAAQLQIAMGIPLYRIKDIRMMYGVSPWGDSPIDFEDSAHVPCPRGHVIAARITSENPDEGFKPSSGTVQELNFRSNKNVWGYFSVAAAGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLIKLLETESFQMNRIDTGWLDRLIAEKVQAERPDTMLGVVCGALHVADVSLRNSVSNFLHSLERGQVLPAHTLLNTVDVELIYEGVKYVLKVTRQSPNSYVVIMNGSCVEVDVHRLSDGGLLLSYDGSSYTTYMKEEVDRYRITIGNKTCVFEKENDPSVMRSPSAGKLIQYIVEDGGHVFAGQCYAEIEVMKMVMTLTAVESGCIHYVKRPGAALDPGCVLAKMQLDNPSKVQQAELHTGSLPRIQSTALRGEKLHRVFHYVLDNLVNVMNGYCLPDPFFSSKVKDWVERLMKTLRDPSLPLLELQDIMTSVSGRIPPNVEKSIKKEMAQYASNITSVLCQFPSQQIANILDSHAATLNRKSEREVFFMNTQSIVQLVQRYRSGIRGHMKAVVMDLLRQYLRVETQFQNGHYDKCVFALREENKSDMNTVLNYIFSHAQVTKKNLLVTMLIDQLCGRDPTLTDELLNILTELTQLSKTTNAKVALRARQVLIASHLPSYELRHNQVESIFLSAIDMYGHQFCIENLQKLILSETSIFDVLPNFFYHSNQVVRMAALEVYVRRAYIAYELNSVQHRQLKDNTCVVEFQFMLPTSHPNRGNIPTLNRMSFSSNLNHYGMTHVASVSDVLLDNSFTPPCQRMGGMVSFRTFEDFVRIFDEVMGCFSDSPPQSPTFPEAGHTSLYDEDKVPRDEPIHILNVAIKTDCDIEDDRLAAMFREFTQQNKATLVDHGIRRLTFLVAQKDFRKQVNYEVDRRFHREFPKFFTFRARDKFEEDRIYRHLEPALAFQLELNRMRNFDLTAIPCANHKMHLYLGAAKVEVGTEVTDYRFFVRAIIRHSDLVTKEASFEYLQNEGERLLLEAMDELEVAFNNTNVRTDCNHIFLNFVPTVIMDPSKIEESVRSMVMRYGSRLWKLRVLQAELKINIRLTPTGKAIPIRLFLTNESGYYLDISLYKEVTDSRTAQIMFQAYGDKQGPLHGMLINTPYVTKDLLQSKRFQAQSLGTTYIYDIPEMFRQSLIKLWESMSTQAFLPSPPLPSDMLTYTELVLDDQGQLVHMNRLPGGNE|meltpimeinhfssgf* 11BR038 ENSG00000202389.1(19315),ENSG00000087095.13(898) ENSG00000274487.2 ./+ -/- chr17:28041779 chr17:38202981 intergenic exon/splice-site inversion 0 6 0 8 902 medium . . . . . . ENSG00000274487.2 . ENST00000649858.1 downstream downstream . GCTGGTTGCGCGTGTCCGACGCTGGCTCCGCTCTATCCGGCTTTGCTAGGGGAG|AATGTAATTGACCGGAAACCATACCCTGATGATGAAAATTTAGTGGAAGTGAAGTTTGCCCGCACACCTGTTACATCTACATATCTGGTGGCATTTGTTGTGGGTGAATATGACTTTGTAGAAACAAGGTCAAAAGATGGTGTGTGTGTCTGTGTTTACACTCCTGTTGGCAAAGCAGAACAAGGAAAATTTGCATTAGAG___GTTGCTGCTAAAACCTTGCCTTTTTATAAGGACTACTTCAATGTTCCTTATCCTCTACCTAAAATTGATCTCATTGCTATTGCAGACTTTGCAGCTG(___GTGCCATGGAGAACTGGGACCTTGTTACTTATAG___GGAGACTGCATTGCTTATTGATCCAAAAAATTCCTGTTCTTCATCCCGCCAGTGGGTTGCTCTGGTTGTGGGACATGAACTTGCCCATCAATGGTTTGGAAATCTTGTTACTATG___GAATGGTGGACTCATCTTTGGTTAAATGAAGGTTTTGCATCCTGGATTGAATATCTGTGTGTAGACCACTGCTTCCCAGAGTATGATATTTGGACTCAGTTTGTTTCTGCTGATTACACCCGTGCCCAGGAGCTTGACGCCTTAGATAACAGCCATCCTATTGAA___GTCAGTGTGGGCCATCCATCTGAGGTTGATGAGATATTTGATGCTATATCATATAGCAAAGGTGCATCTGTCATCCGAATGCTGCATGACTACATTGGGGATAAG___GACTTTAAGAAAGGAATGAACATGTATTTAACCAAGTTCCAACAAAAGAATGCTGCCGCAGGTAATCTTTAATAGCTTGAGATAGAAATGGAGAGAAAGTATTGTCACTCTATCCAGGCTGGGACATTTTATTTTTGTTCTGAATACTTAACTCAAGGTCAGGATCCATGTAATAAATAAATTAGCCTTATTTGAAGCTGTGTTCAGGTTGAATATCTCTAATCTGAAATTTGAAATG)$ . 11BR038 ENSG00000108587.15 ENSG00000280441.3 +/+ +/+ chr17:30484770 chr21:8450147 CDS/splice-site exon/splice-site translocation 0 6 0 325 226 medium out-of-frame . . . . ENSG00000108587.15 ENSG00000280441.3 ENST00000225724.9 ENST00000651813.1 downstream upstream duplicates(1) ^(ACACGCACCATGGTGACTTTCCGGCCTGCATCGCCTCTGCTCCCCTATCCCGGCTGACGTTGGACGACAAAGATGGCGGCAGGGACCAGCAGTTACTGGGAAG___ATCTCAGGAAACAGGCTCGACAGCTGGAAAATGAACTTGACCTGAAACTAGTTTCCTTCAGCAAACTATGTACAAGTTACAGTCATAGCAGTACCCGAGATGGAAGACGCGACAGGTATAG___TTCTGATACAACACCCCTTTTAAATGGATCAAGCCAAGACAGAATGTTTGAGACAATGGCGATTGAGATTGAACAACTTTTGGCAAGG___CTTACAGGGGTAAATGATAAAATGG)CAGAATATACCAACAGTGCAGGTGTCCCCTCCTTGAATGCAGCCCTGATGCATACATTACAGCGGCATAGAGACATATTGCAG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCCGG(CTAATTTTTCTATTTTTACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ MAAGTSSYWEDLRKQARQLENELDLKLVSFSKLCTSYSHSSTRDGRRDRYSSDTTPLLNGSSQDRMFETMAIEIEQLLARLTGVNDKMAEYTNSAGVPSLNAALMHTLQRHRDILQ|asshvsr* 11BR038 ENSG00000278540.5 ENSG00000264488.1 -/- +/+ chr17:37179259 chr17:40809150 intron exon/splice-site inversion 6 0 0 1108 16 medium out-of-frame . Acetyl-CoA_carboxylase__central_region(100%),Biotin-requiring_enzyme(100%),Biotin_carboxylase_C-terminal_domain(100%),Biotin_carboxylase__N-terminal_domain(100%),Carbamoyl-phosphate_synthase_L_chain__ATP_binding_domain(100%)| . . ENSG00000278540.5 ENSG00000264488.1 ENST00000616317.5 ENST00000582101.1 upstream upstream . ^(GCCGCCTCCGCCCCTCGGCCGTGGAGGCCCCCGCCGGGTGCTGAGCGCCCGCCACCGCCCTCTTGGCCTTTTCCCGGTCCCCGCCGCGCGCCTGCTGCTGTCCCCGTGCCCGAGGACTGGGAGGATGGGGCTGAGCCGCTTGCCTGACTTTTGATCCGACCAGTAATCACTTTGCCCGTGTGGCGCGTGGCCCGTTGCCTGAGGCTTCCTGGCGCGTGGGGCTGTTTGGTCCCCTCCGGAGTGCGGTGAGGCGGGCCGAGCCGGGACTGCCTGGGTTTGGGGATAACGTTCCCATCTCCACCCCTGTTGCAGCAAGGGAAATTGAGGCTGAGGGAACTGGGCCCAGGGACGGCGAGCCGTGGCGCCTCTCCAGTCCGGGCCCCGAAGGGCTGCTCGTGGATGAACCAGACTGATTTTAAGGGGTGAAGAGGGTGCGTTTCAATCAGATGCTCCTGGAACGTCGAAATTGTCTTCTTTGGAAAGAACCATCCCCTCTTTGGGCTTCAGAGGCCCAAATTGAGGCGCAATGATGAGAGGATGTGGTGGTCTACTCTGATGTCAATCTTGAGGGCTAG___GTCTTTTTGGAAGTGGATATCTACTCAGACAGTAAGAATTATAAGAG___CTGTAAGAGCTCATTTTGGAGGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAGATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAGATACACTCTCTGATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAG___GTCCAGCATGTCTGGCTTGCACCTAGTAAAGCAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAGTGATTGAGAAG___GTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGAAATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAG___AATACATTAAGATGGCAGATCACTATGTGCCAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAA___GCAGTGTGGGCTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGG___GTCCTCCAAGCCAGGCCATGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTG___GTCTTCGTGTGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATGGGCTACAG___GCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATGCAGATGACTTCCCTAATCTCTTCAGACAG___GTTCAAGCTGAAGTTCCTGGATCTCCCATATTTGTGATGAGACTAGCCAAACAATCTCGTCATCTGGAGGTGCAGATCTTAGCGGACCAATATGGCAATGCTATCTCTTTGTTTGGTCGTGATTGCTCTGTACAACGCAGGCATCAGAAGATTATTGAAGAAGCACCTGCTACTATTGCTACTCCAGCAGTATTTGAACACATGGAACAG___TGTGCGGTGAAACTTGCCAAAATGGTGGGTTATGTGAGTGCTGGGACTGTGGAATACCTGTACAGCCAGGATGGCAGCTTCTACTTTCTGGAATTGAATCCTCGGCTGCAGGTAGAGCACCCTTGTACAGAGATGGTGGCTGATGTCAATCTCCCTGCAGCACAGCTCCAG___ATTGCCATGGGGATTCCTCTATATAGAATCAAGGATATCCGTATGATGTATGGGGTATCTCCCTGGGGTGATTCTCCCATTGATTTTGAAGATTCTGCACACGTTCCTTGTCCAAGGGGCCATGTTATTGCTGCTCGGATCACTAGTGAAAATCCAGATGAG___GGTTTTAAGCCCAGCTCAGGAACAGTTCAGGAGCTAAATTTCCGCAGCAATAAGAATGTTTGGGGATATTTCAGTGTTGCTGCTGCAGGGGGACTTCATGAATTTGCTGATTCTCAGTTTGGTCACTGCTTTTCTTGGGGAGAAAACAGAGAAGAGGCAATTTC___AAACATGGTGGTGGCTTTGAAGGAGCTGTCTATTCGGGGTGACTTTCGAACTACAGTTGAATACCTGATCAAATTGTTAGAGACTGAAAGCTTTCAGATGAACAGAATTGATACTGGCTGGCTGGACAGACTGATAGCAGAAAAAGTACAG___GCTGAGCGACCTGACACCATGTTGGGGGTTGTGTGTGGTGCCCTCCACGTGGCAGATGTGAGCCTGCGGAATAGCGTCTCTAACTTCCTTCACTCCTTAGAAAG___GGGTCAAGTCCTTCCTGCTCATACACTTCTGAATACAGTAGATGTTGAACTTATCTATGAGGGAGTCAAGTATGTACTTAAG___GTGACTCGACAGTCCCCCAACTCCTATGTGGTGATCATGAATGGCTCATGTGTAGAAGTAGATGTACATCGGCTGAGTGACGGTGGACTGCTCTTGTCCTATGATGGCAGCAGTTATACTACGTATATGAAAGAGGAAGTGGATAG___ATATCGCATCACAATTGGCAATAAAACCTGTGTGTTTGAGAAGGAAAATGACCCATCGGTGATGCGCTCACCTTCTGCTGGGAAGTTAATCCAGTACATTGTAGAAGATGGAGGTCATGTGTTTGCCGGCCAGTGCTATGCTGAGATTGAG___GTAATGAAGATGGTAATGACCTTAACAGCTGTGGAGTCTGGCTGTATCCATTACGTCAAGCGACCTGGAGCAGCTCTTGACCCTGGCTGTGTACTAGCCAAAATGCAACTGGACAACCCCAGCAAGGTTCAGCAG___GCTGAACTTCACACAGGTAGTCTGCCACGGATCCAGAGCACGGCACTCAGAGGCGAGAAACTCCATCGAGTGTTCCATTATGTCCTGGATAATCTGGTCAATGTAATGAATGGATACTGCCTTCCAGATCCTTTCTTTAGCAGCAAG___GTAAAAGACTGGGTAGAGCGATTGATGAAAACCCTCAGAGATCCCTCCCTGCCTCTCCTAGAATTGCAAGATATTATGACCAGTGTGTCTGGCCGCATTCCCCCCAATGTGGAGAAGTCTATCAAGAAGGAAATGGCTCAGTATGCTAGCAACATCACATCAGTCCTCTGTCAGTTTCCCAGCCAGCAG___ATTGCAAACATCCTAGATAGCCATGCAGCTACATTGAACCGGAAATCTGAACGGGAAGTCTTCTTTATGAATACTCAGAGCATTGTTCAGCTGGTACAGAG___GTACCGAAGTGGCATCCGAGGCCACATGAAGGCTGTGGTGATGGATCTGCTCCGGCAGTACCTGCGAGTAGAGACACAATTCCAGAATG___GTCACTATGACAAATGTGTATTCGCCCTCCGAGAAGAGAATAAAAGTGACATGAACACTGTACTGAACTACATCTTCTCTCACGCTCAAGTCACCAAGAAGAATCTTCTGGTCACAATGCTTATT___GATCAGTTGTGTGGCCGGGACCCTACTCTCACTGATGAGCTGCTGAATATTCTCACAGAGCTAACTCAACTCAGTAAGACCACCAATGCCAAAGTAGCACTTCGAGCACGCCAG___GTTCTTATTGCCTCCCATTTGCCATCATATGAGCTTCGCCATAACCAAGTAGAGTCTATCTTCCTATCAGCTATTGACATGTATGGACATCAATTTTGCATTGAGAACCTGCAG___AAACTCATCCTATCAGAAACATCTATTTTTGATGTCCTACCAAACTTCTTCTATCACAGCAACCAAGTAGTGAGGATGGCAGCTCTGGAG___GTGTATGTTCGAAGGGCTTATATTGCCTATGAACTTAACAGCGTACAACACCGCCAGCTTAAGGACAACACCTGTGTGGTGGAATTCCAGTTCATGCTGCCCACATCTCATCCAAACAG___AGGGAACATCCCTACGCTAAACAG___AATGTCCTTCTCCTCCAACCTCAACCACTATGGCATGACCCATGTAGCTAGTGTCAGCGATGTACTGTTGGACAACTCATTCACTCCACCTTGTCAGCGGATGGGCGGAATGGTCTCTTTTCGGACTTTTGAAGATTTTGTCAG___GATCTTTGATGAAGTGATGGGCTGCTTCTCTGACTCCCCACCCCAGAGTCCCACATTCCCTGAGGCAGGTCACACGTCTCTTTATGATGAGGATAAG___GTTCCCAGGGATGAACCAATTCACATTCTCAATGTGGCTATCAAGACTGACTGTGATATTGAGGATGACAGGCTGGCAGCTATGTTCAGAGAATTTACCCAGCAAAAT___AAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAG___GATTTCAGAAAGCAGGTCAACTATGAGGTGGATCGGAGATTTCAT___AGAGAATTCCCTAAATTTTTTACATTCCGAGCAAGGGATAAG___TTTGAGGAGGATCGTATCTATCGTCATCTGGAGCCTGCTCTGGCTTTCCAGTTAGAGCTGAACCGGATGAGAAATTTTGACCTCACTGCCATTCCATGTGCTAATCACAAGATGCACCTGTATCTCGGGGCAGCCAAGGTGGAAGTGGGCACAGAAGTGACAGACTACAGGTTCTTTGTTCGTGCAATCATCAGGCATTCTGATCTGGTCACCAAG___GAAGCTTCTTTTGAATATCTGCAAAATGAAGGGGAGCGGCTACTCCTGGAAGCCATGGATGAGTTGGAAGTTGCTTTTAACAATACAAATGTCCGCACTGACTGTAACCACATCTTCCTCAACTTTGTGCCCACGGTTATCATGGACCCATCAAAG___ATTGAGGAATCCGTGCGGAGCATGGTAATGCGGTATGGAAGTCGCCTGTGGAAATTGCGCGTCCTCCAGGCAGAACTGAAAATCAACATTCGCCTGACGCCAACTGGAAAAGCAATTCCCATCCGCCTCTTCCTGACAAACGAGTCTGGCTATTACTTGGATATCAGCCTATACAAGGAAGTGACTGACTCCAGGACAGCACAG___ATCATGTTTCAGGCATATGGA)GACAAACAGGGACCACTGCATGGAATGTTAATCAATACTCCATATGTGACCAAAGACCTGCTGCAATCAAAGAGGTTCCAGGCACAATCCTTAGGGACAACATACATATATGATATCCCAGAGATGTTTCGGCAG___TCCCTGATCAAACTCTGGGAGTCTATGTCCACTCAAGCATTTCTTCCATCTCCCCCTCTGCCTTCTGACATGCTGACTTACACTGAACTGGTACTGGATGATCAAGGTCAGCTGGTCCACATGAACAGGCTTCCAGGAGGAAATGAGG|ATTGTATTGCTGCTTTTAATGGAGCGAATCCCCCCTCCCCACCAGAAACAGCAAAGAAACAGCAACTGGAAGATAACAGAATCATGAAAGCATGATTGAAGAACAAAAAAAT(GGGACAGCTGACACTTCCACTTCTGTTAAGAGTTC)$ MWWSTLMSILRARSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGISSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFVVMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKIASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLFRQVQAEVPGSPIFVMRLAKQSRHLEVQILADQYGNAISLFGRDCSVQRRHQKIIEEAPATIATPAVFEHMEQCAVKLAKMVGYVSAGTVEYLYSQDGSFYFLELNPRLQVEHPCTEMVADVNLPAAQLQIAMGIPLYRIKDIRMMYGVSPWGDSPIDFEDSAHVPCPRGHVIAARITSENPDEGFKPSSGTVQELNFRSNKNVWGYFSVAAAGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLIKLLETESFQMNRIDTGWLDRLIAEKVQAERPDTMLGVVCGALHVADVSLRNSVSNFLHSLERGQVLPAHTLLNTVDVELIYEGVKYVLKVTRQSPNSYVVIMNGSCVEVDVHRLSDGGLLLSYDGSSYTTYMKEEVDRYRITIGNKTCVFEKENDPSVMRSPSAGKLIQYIVEDGGHVFAGQCYAEIEVMKMVMTLTAVESGCIHYVKRPGAALDPGCVLAKMQLDNPSKVQQAELHTGSLPRIQSTALRGEKLHRVFHYVLDNLVNVMNGYCLPDPFFSSKVKDWVERLMKTLRDPSLPLLELQDIMTSVSGRIPPNVEKSIKKEMAQYASNITSVLCQFPSQQIANILDSHAATLNRKSEREVFFMNTQSIVQLVQRYRSGIRGHMKAVVMDLLRQYLRVETQFQNGHYDKCVFALREENKSDMNTVLNYIFSHAQVTKKNLLVTMLIDQLCGRDPTLTDELLNILTELTQLSKTTNAKVALRARQVLIASHLPSYELRHNQVESIFLSAIDMYGHQFCIENLQKLILSETSIFDVLPNFFYHSNQVVRMAALEVYVRRAYIAYELNSVQHRQLKDNTCVVEFQFMLPTSHPNRGNIPTLNRMSFSSNLNHYGMTHVASVSDVLLDNSFTPPCQRMGGMVSFRTFEDFVRIFDEVMGCFSDSPPQSPTFPEAGHTSLYDEDKVPRDEPIHILNVAIKTDCDIEDDRLAAMFREFTQQNKATLVDHGIRRLTFLVAQKDFRKQVNYEVDRRFHREFPKFFTFRARDKFEEDRIYRHLEPALAFQLELNRMRNFDLTAIPCANHKMHLYLGAAKVEVGTEVTDYRFFVRAIIRHSDLVTKEASFEYLQNEGERLLLEAMDELEVAFNNTNVRTDCNHIFLNFVPTVIMDPSKIEESVRSMVMRYGSRLWKLRVLQAELKINIRLTPTGKAIPIRLFLTNESGYYLDISLYKEVTDSRTAQIMFQAYGDKQGPLHGMLINTPYVTKDLLQSKRFQAQSLGTTYIYDIPEMFRQSLIKLWESMSTQAFLPSPPLPSDMLTYTELVLDDQGQLVHMNRLPGGNE|dciaafnganppsppetakkqqlednrimka* 11BR038 ENSG00000167258.15 ENSG00000178082.6(8126),ENSG00000108255.7(34263) +/+ ./- chr17:39463117 chr17:29212600 CDS/splice-site intergenic inversion 5 1 0 655 5 medium out-of-frame . . . . ENSG00000167258.15 . ENST00000447079.6 . downstream downstream . ^(AAGTGCCGTTTCGGTTTAATCTAGTGTGTGACTGGGTCTGTGTGAGGGAGAGAGTGTGTGTGGTGTGGAGGTGAAACGGAGGCAAGAAAGGGGGCTACCTCAGGAGCGAGGGACAAAGGGGGCGTGAGGCACCTAGGCCGCGGCACCCCGGCGACAGGAAGCCGTCCTGAACCGGGCTACCGGGTAGGGGAAGGGCCCGCGTAGTCCTCGCAGGGCCCCAGAGCTGGAGTCGGCTCCACAGCCCCGGGCCGTCGGCTTCTCACTTCCTGGACCTCCCCGGCGCCCGGGCCTGAGGACTGGCTCGGCGGAGGGAGAAGAGGAAACAGACTTGAGCAGCTCCCCGTTGTCTCGCAACTCCACTGCCGAGGAACTCTCATTTCTTCCCTCGCTCCTTCACCCCCCACCTCATGTAGAAGGGTGCTGAGGCGTCGGGAGGGAGGAGGAGCCTGGGCTACCGTCCCTGCCCTCCCCACCCCCTTCCCGGGGCGCTTTGGTGGGCGTGGAGTTGGGGTTGGGGGGGTGGGTGGGGGTTGCTTTTTGGAGTGCTGGGGAACTTTTTTCCCTTCTTCAGGTCAGGGGAAAGGGAATGCCCAATTCAGAGAGACATGGGGGCAAGAAGGACGGGAGTGGAGGAGCTTCTGGAACTTTGCAGCCGTCATCGGGAGGCGGCAGCTCTAACAGCAGAGAGCGTCACCGCTTGGTATCGAAGCACAAGCGGCATAAGTCCAAACACTCCAAAGACATGGGGTTGGTGACCCCCGAAGCAGCATCCCTGGGCACAGTTATCAAACCTTTGGTGGAGTATGATGATATCAGCTCTGATTCCGACACCTTCTCCGATGACATGGCCTTCAAACTAGACCGAAGGGAGAACGACGAACGTCGTGGATCAGATCGGAGCGACCGCCTGCACAAACATCGTCACCACCAGCACAGGCGTTCCCGGGACTTACTAAAAGCTAAACAGACCGAAAAAGAAAAAAGCCAAGAAGTCTCCAGCAAGTCGGGATCGATGAAGGACCGGATATCGGGAAGTTCAAAGCGTTCGAATGAGGAGACTGATGACTATGGGAAGGCGCAGGTAGCCAAAAGCAGCAGCAAGGAATCCAGGTCATCCAAGCTCCACAAGGAGAAGACCAGGAAAGAACGGGAGCTGAAGTCTGGGCACAAAGACCGGAGTAAAAGTCATCGAAAAAGGGAAACACCCAAAAGTTACAAAACAGTGGACAGCCCAAAACGGAGATCCAGGAGCCCCCACAGGAAGTGGTCTGACAGCTCCAAACAAGATGATAGCCCCTCGGGAGCTTCTTATGGCCAAGATTATGACCTTAGTCCCTCACGATCTCATACCTCGAGCAATTATGACTCCTACAAGAAAAGTCCTGGAAGTACCTCGAGAAGGCAGTCGGTCAGTCCCCCTTACAAGGAGCCTTCGGCCTA)CCAGTCCAGCACCCGGTCACCGAGCCCCTACAGTAGGCGACAGAGATCTGTCAGTCCCTATAGCAGGAGACGGTCGTCCAGCTACGAAAGAAGTGGCTCTTACAGCGGGCGATCGCCCAGTCCCTATGGTCGAAGGCGGTCCAGCAGCCCTTTCCTGAGCAAGCGGTCTCTGAGTCGGAGTCCACTCCCCAG|TTGAGGGTGGAGTCATTCCTGCTACACTTGTGTCAAGTACTGTATAATTTATGATGTGAAGCCATGGAGTTTGAGTCAACC MPNSERHGGKKDGSGGASGTLQPSSGGGSSNSRERHRLVSKHKRHKSKHSKDMGLVTPEAASLGTVIKPLVEYDDISSDSDTFSDDMAFKLDRRENDERRGSDRSDRLHKHRHHQHRRSRDLLKAKQTEKEKSQEVSSKSGSMKDRISGSSKRSNEETDDYGKAQVAKSSSKESRSSKLHKEKTRKERELKSGHKDRSKSHRKRETPKSYKTVDSPKRRSRSPHRKWSDSSKQDDSPSGASYGQDYDLSPSRSHTSSNYDSYKKSPGSTSRRQSVSPPYKEPSAYQSSTRSPSPYSRRQRSVSPYSRRRSSSYERSGSYSGRSPSPYGRRRSSSPFLSKRSLSRSPLPs|* 11BR038 ENSG00000275700.5 ENSG00000202389.1(11941),ENSG00000087095.13(8272) +/+ ./+ chr17:36953907 chr17:28034405 CDS/splice-site intergenic duplication 3 0 2 523 15 medium out-of-frame . Apoptosis_antagonizing_transcription_factor(100%)| . . ENSG00000275700.5 . ENST00000619387.5 . downstream upstream . ^(GCGCCTCCCGGAAGTGGCCGGTCCAGAGCTGTGGGGTGGCCTCCGCGCGGTCTCTGGCGGAGTCGGGGAATCGGATCAAGGCGAGAGGATCCGGCAGGGAAGGAGCTTCGGGGCCGGGGGTTGGGCCGCACATTTACGTGCGCGAAGCGGAGTGGACCGGGAGCTGGTGACGATGGCGGGGCCGCAGCCCCTGGCGCTGCAACTGGAACAGTTGTTGAACCCGCGACCAAGCGAGGCGGACCCTGAAGCGGACCCCGAGGAAG___CCACTGCTGCCAGGGTGATTGACAGGTTTGATGAAGGGGAAGATGGGGAAGGTGATTTCCTAGTAGTGGGTAGCATTAGAAAACTGGCATCAGCCTCCCTCTTGGACACGGACAAAAGGTATTGCGGCAAAACCACCTCTAGAAAAGCATGGAATGAAGACCATTGGGAGCAGACTCTGCCAGGATCGTCTG___ATGAGGAAATATCTGATGAGGAAGGGTCTGGAGATGAAGATTCAGAGGGACTGGGTCTGGAGGAATATGATGAGGACGACCTGGGTGCTGCTGAGGAACAGGAGTGTGGTGATCACAGGGAGAGCAAGAAGAGCAGAAGCCACTCTGCAAAAACACCGGGCTTCAGTGTCCAGAGTATCAGTGACTTTGAGAAATTTACCAAGGGAATGGATGACCTTGGGAGCAGTGAGGAGGAGGAAGACGAAGAGAGTGGCATGGAAGAAGGGGATGACGCGGAAGACT)CCCAAGGCGAGAGTGAGGAAGACAGGGCTGGAGATAGAAACAGTGAGGATGATGGTGTGGTGATGACCTTCTCTAGTGTCAAAGTTTCTGAGGAAGTGGAGAAAGGAAGAGCCGTGAAGAACCAGATAG___CACTGTGGGACCAGCTCTTGGAAGGAAGGATCAAACTACAAAAAGCTCTGTTGACCACCAACCAGCTTCCTCAACCAGATGTTTTCCCATTGTTCAAGGACAAAGGTGGCCCAGAATTTTCCAGTGCCCTGAAAAATA|GCTCTAAGTGCTATCCTGCTGACTCACTTCCGACTTCTCGTTCTTCATGCTCAGCTCCTGAAAATGGAACAAAATGGAAAAGGCCGGAAATTGTACTGTCTGGTGATGTGTTTAAGGGGCCAGCCACTCCACGTGGATGGAATGCTGGGGACATGAACTGAGTGGTGCCCAAGATGATTTCTCCACTGGACACTTGGGACACTTTGCCTTCGATTGTAATACCTG MAGPQPLALQLEQLLNPRPSEADPEADPEEATAARVIDRFDEGEDGEGDFLVVGSIRKLASASLLDTDKRYCGKTTSRKAWNEDHWEQTLPGSSDEEISDEEGSGDEDSEGLGLEEYDEDDLGAAEEQECGDHRESKKSRSHSAKTPGFSVQSISDFEKFTKGMDDLGSSEEEEDEESGMEEGDDAEDSQGESEEDRAGDRNSEDDGVVMTFSSVKVSEEVEKGRAVKNQIALWDQLLEGRIKLQKALLTTNQLPQPDVFPLFKDKGGPEFSSALKN|sskcypadslptsrsscsapengtkwkrpeivlsgdvfkgpatprgwnagdmn* 11BR038 ENSG00000108306.13 ENSG00000275410.5 -/- -/- chr17:39343180 chr17:37705049 CDS/splice-site CDS/splice-site deletion 0 5 0 159 24 medium out-of-frame . F-box-like(100%)|Hepatocyte_nuclear_factor_1_(HNF-1)__beta_isoform_C_terminus(100%) . . ENSG00000108306.13 ENSG00000275410.5 ENST00000264658.11 ENST00000617811.5 upstream downstream duplicates(1) ^(GGAGAGAGCCGAGCTAGCGACGAGCAGTCGTTGCGGCCGCCGGCGCCGCGGGAGGTGGTGGAGGCCTAGCCGGAGCCGAGAGGTCTCTTGTTCCCGTCCCACGGTCCCGGCGTCACCCCTCCGGCGCCCAGTCCCCGTCCCGGAACTCCCGGGCCTGTCCTGGGCCCCCGGTCTGTGCACTCCGCTCGCCGCAGCGCCCGGCCCGGGCCGCACCCGCCGGCCCCATGAGGAGGGACGTGAACGGAGTGACCAAGAGCAGGTTTGAG___)ATGTTCTCAAATAGTGATGAAGCTGTAATCAATAAAAAACTTCCCAAAGAACTCCTGTTACG|ATCTCAGTCTCAGGAGGAGGTTTGCCCCCAGTCAGCACCTTGACGAATATCCACAGCCTCTCCCACCATAATCCCCAGCAATCTCAAAACCTCATCATGACACCCCTCTCTGGAGTCATGGCAATTGCACAAA___GCCTCAACACCTCCCAAGCACAGAGTGTCCCTGTCATCAACAGTGTGGCCGGCAGCCTGGCAGCCCTGCAGCCCGTCCAGTTCTCC(CAGCAGCTGCACAGCCCTCACCAGCAGCCCCTCATGCAGCAGAGCCCAGGCAGCCACATGGCCCAGCAGCCCTTCATGGCAGCTGTGACTCAGCTGCAGAACTCACACA___TGTACGCACACAAGCAGGAACCCCCCCAGTATTCCCACACCTCCCGGTTTCCATCTGCAATGGTGGTCACAGATACCAGCAGCATCAGTACACTCACCAACATGTCTTCAAGTAAACAG___TGTCCTCTACAAGCCTGGTGATGCCCACACACCACTTACTTCGTGCGCAACAACAAGGACCCTGTTTTCCACACCATCACCCTCTGGGCAGCTGTCATGGAAAAGCCCAGTGACCTGACCAGCACCTGCGAGAGGTCCCTGCTTACCTGACGGACGTCCTGCTGGCACCTCAGACAATCCACTCTCAGGAGGCGCAGCCCGAAGCCCAGTTTCCCTTCTATGCAGTATTGCCACAATGCCTCTCCCACGATGTCAAGGACTCCTGTCTGTCCTGGAGGTGGGAGACAAGGAACCTCCGAAGAGGAAGCAAGAAAGCCGTACTGTCTATGTTGTGATCCTTCATCGAACAAACTGATGCGAAAACTTGAATCTGTTACTGAAATGAGGAGAGAAGGACATGTGCTATTGAACTGAGCCAAACACACTGTAAATATCCACAGACTCCCTCCCCTGCCCCCATCCCAAATGATCTTGAGATTTCTTTTAAAGAAGTAAATTTGTCCAATGGCTGTAAACTATAAACTACTGTAATTAAGTGCAATTTCCCCTCTGTGTCCTCTCCCCTCTGCCCTGTATATAATACTAAAGTGTCTATTAGTTTTCTTTGTAAAGGTCAGAGTCAAAATTTCAAAAGTGATCTGTCCCCTCTCCCCTCATGGAGAAACATCCTAAGTGGGAAGTGAAGCCCCTTGTCCTCTCCCGCGGGCCTGGACACTTATGGGGACAGCATACCTTGGACTGACTACCAGCTAACTCCAGTCTCCTGACATTAAGACACACCTCTGGATCCCTGGAGGGGCTGAATGTAGTGTGTCAGAGTAACATGCCAGCTTCCTGTGGGCCAGGAGCTCAGCCGTGCACTCCCTAAGAAACCCCAGGGCAGGGAAACTGGCTGTTTGATAGCAGAAGAAAAAGTTGCAGTCTCAGAAAGCCTTCCATTAAAACAATTTATTTTATCACTA)$ MRRDVNGVTKSRFEMFSNSDEAVINKKLPKELLLr|sqsqeevcpqsap* 11BR038 ENSG00000108306.13 ENSG00000276293.4 -/- -/- chr17:39401361 chr17:38786920 CDS/splice-site CDS/splice-site deletion 1 4 0 48 875 medium in-frame . |Phosphatidylinositol-4-phosphate_5-Kinase(100%) . . ENSG00000108306.13 ENSG00000276293.4 ENST00000264658.11 ENST00000619039.4 upstream downstream . ^(GGAGAGAGCCGAGCTAGCGACGAGCAGTCGTTGCGGCCGCCGGCGCCGCGGGAGGTGGTGGAGGCCTAGCCGGAGCCGAGAGGTCTCTTGTTCCCGTCCCACGGTCCCGGCGTCACCCCTCCGGCGCCCAGTCCCCGTCCCGGAACTCCCGGGCCTGTCCTGGGCCCCCGGTCTGTGCACTCCGCTCGCCGCAGCGCCCGGC)CCGGGCCGCACCCGCCGGCCCCATGAGGAGGGACGTGAACGGAGTGACCAAGAGCAGGTTTGAG|ATCAATGAGCTGAGCAATGTTCCTGTTCCTGTCATGCTAATGCCAGATGACTTCAAAGCCTACAGCAAGATCAAGGTGGACAATCATCTCTTCAATAA___GGAGAACCTGCCCAGCCGCTTTAAGTTTAAGGAGTtTTGCCCCATGGTGTTCCGAAACCTTCGGGAG(AGGTTTGGAATTGATGATCAGGATTACCAG___AATTCAGTGACGCGCAGCGCCCCCATCAACAGTGACAGCCAGGGTCGGTGTGGCACGCGTTTCCTCACCACCTACGACCGGCGCTTTGTCATCAAGACTGTGTCCAGCGAGGACGTGGCGGAGATGCACAACATCTTAAAGAAATACCACCAG___TTTATAGTGGAGTGTCATGGCAACACGCTTTTGCCACAGTTCCTGGGCATGTACCGCCTGACCGTGGATGGTGTGGAAACCTACATGGTGGTTACCAGGAACGTGTTCAGCCATCGGCTCACTGTGCATCGCAAGTATGACCTCAAG___GGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAG___GCCAAGGACTTGCCAACATTCAAAGACAATGACTTCCTCAATGAAGGGCAGAAGCTGCATGTGGGAGAGGAGAGTAAAAAGAACTTCCTGGAGAAACTGAAGCGGGACGTTGAG___TTCTTGGCACAGCTGAAGATCATGGACTACAGCCTGCTGGTGGGCATCCACGACGTGGACCGGGCAGAGCAGGAGGAGATGGAGGTGGAGGAGCGGGCAGAGGACGAGGAGTGTGAGAATGATGGGGTGGGTGGCAACCTACTCTGCTCCTATGGCACACCTCCGGACAGCCCTGGCAACCTCCTCAGCTTTCCTCGGTTCTTTGGTCCTGGGGAATTCGACCCCTCTGTTGACGTCTATGCCATGAAAAGCCATGAAA___GTTCCCCCAAGAAGGAGGTGTATTTCATGGCCATCATTGATATCCTCACGCCATACGATACAAAGAAGAAAGCTGCACATGCTGCCAAAACGGTGAAACACGGG___GCAGGGGCCGAGATCTCGACTGTGAACCCTGAGCAGTACTCCAAACGCTTCAACGAGTTTATGTCCAACATCCTGACGTAGTTCTCTTCTACCTTCAGCCAGAGCCAGAGAGCTGGATATGGGGTCGGGGATCGGGAGTTAGGGAGAAGGGTGTATTTGGGCTAGATGGGAGGGTGGGAGCAGAGTCGGGTTTGGGAGGGCTTTAGCAATGAGACTGCAGCCTGTGACACCGAAAGAGACTTTAGCTGAAGAGGAGGGGGATGTGCTGTGTGTGCACCTGCTCACAGGATGTAACCCCACCTTCTGCTTACCCTTGATTTTTTCTCCCCATTTGACACCCAGGTTAAAAAGGGGTTCCCTTTTTGGTACCTTGTAACCTTTTAAGATACCTTGGGGCTAGAGATGACTTCGTGGGTTTATTTGGGTTTTGTTTCTGAAATTTCATTGCTCCAGGTTTGCTATTTATAATCATATTTCATCAGCCTACCCACCCTCCCCATCTTTGCTGAGCTCTCAGTTCCCTTCAATTAAAGAGATACCCGGTAGACCCAGCACAAGGGTCCTTCCAGAACCAAGTGCTATGGATGCCAGATTGGAGAGGTCAGACACCTCGCCCTGCTGCATTTGCTCTTGTCTGGATTAACTTTGTAATTTATGGAGTATTGTGCACAACTTCCTCCACCTTTCCCTTGGATTCAAGTGAAAACTGTTGCATTATTCCTCCATCCTGTCTGGAATACACCAGGTCAACACCAGAGATCTCAGATCAGAATCAGAGATCTCAGAGGGGAATAAGTTCATCCTCATGGGATGGTGAGGGGCAGGAAAGCGGCTGGGCTCTTGGACACCTGGTTCTCAGAGAACCCTGTGATGATCACCCAAGCCCCAGGCTGTCTTAGCCCCTGGAGTTCAGAAGTCCTCTCTGTAAAGCCTGCCTCCCACTAGGTCAAGAGGAACTAGAGTACCTTTGGATTTATCAGGACCCTCATGTTTAAATGGTTATTTCCCTTTGGGAAAACTTCAGAAACTGATGTATCAAATGAGGCCCTGTGCCCTCGATCTATTTCCTTCTTCCTTCTGACCTCCTCCCAGGCACTCTTACTTCTAGCCGAACTCTTAGCTCTGGGCAGATCTCCAAGCGCCTGGAGTGCTTTTTAGCAGAGACACCTCGTTAAGCTCCGGGATGACCTTGTAGGAGATCTGTCTCCCTGTGCCTGGAGAGTTACAGCCAGCAAGGTGCCCCCATCTTAGAGTGTGGTGTCCAAACGTGAGGTGGCTTCCTAGTTACATGAGGATGTGATCCAGGAAATCCAGTTTGGAGGCTTGATGTGGGTTTTGACCTGGCCTCAGCCTTGGGGCTGTTTTTCCTTGTTGCCCCGCTCTAGACTTTTAGCAGATCTGCAGCCCACAGGCTTTTTTGGAAGGAGTGGCTTCCTGCAGGTGTTCCACCTGCCTTCGGAGCCTGCCACCCAGGCCCTCAGAACTGAGCCACAGGCTGCTCTGGCCAGGAGAGAAACAGCTCTGTTGTTCTGCATTGGGGGAGGTACATTCCTGCATCTTCTCACCCCCTCAACCAGGAACTGGGGATTTGGGATGAGATATGGTCAGACTTGTAGATAACCCCAAAGATGTGAAGATCGCTTGTGAAACCATTTTGAATGAATAGATTGGTTTCCTGTGGCTCCCTCCAAACCTGGCCAAGCCCAGCTTCCGAAGCAGGAACCAGCACTGTCTCTGTGCCTGACTCACAGCATATAGGTCAGGAAAGAATGGAGACGGCATTCTTGGACTTCACTGGGGCTGCTGGATTGGATGGGAAACCTTCTGGAAGAGGCAGATGGGGGTCAAACCACTGCCTTGGCCCCAGGAAGGGGCCATAGGTAGGTCTGAACAACTGCCGCAAGACCACTACATGACTTAGGGAACTTGAAACCAACTGGCTCATGGAGAAAACAAATTTGACTTGGGAAAGGGATTATGTAGGAATAATGTTTGGACTTGATTTCCCCACGTCATAATGAAGAATGGAAGTTTGGATCTGCTCCTCGTCAGGCGCAGCATCTCTGAAGCTTGGAAAGCTGTCTTCCAGCAGCCTCCGTGGCCTCGGGTTCCTACCGGCTTCTCTGCATTTGGTCTGCTGATCATGTTGCCATAATGTGTATGGAAAGTGTAACACATTCTTACTGGTTAAAGACGACTACCAGGTATCTAACTTGTTTAACATTGAGTTTGTGTGTGTGTGTGTATGTTTGTGTGTTTTGTATATTGTTTACATTTTGAGAGGTAGCATTCTGTTTCAAATGCTTTTTGTTTTTCTGACAGTATTGTTGACTGGGTCATAACATTTTGAGCTGTGGTTTGGTGGATTTTCAATTTTTTTTTTTAAAGGTCATTCGCTGTGCTATCTTCAAAACCTTGAGTTTGGCCCCCAATTTTTGGCATTCAAATGTTTAAAAGCTATTTATCTTGGTTTATACAAGTTTCCTTTCTCTTCTTTTTGTCATGGTATTCTATTTGGTCTGCAGTTTGAATGTAGAGAAAGTGGACTGATCCCCCAAGCGTTGTCTGCCCCCACTCTTTCCTCCTTGGGTCCCGCCATTCTTTTACTGGGCAGTCGAGGGCATTGGAGGGGAAGTGACTGCCCTCAGCCTCACTCCCTGGGGCCATGAAGAAAAGCTAAACAGTCTCATGGCATCTCAGAATAATGTTGGGTCTCCCAAGAAGAAAGGTGTAAGAATAACGACATGGCTGATTAGGCGAGGCCAGGATAGGGCTAAGGCCAGGATTCCTGGCTGGCATCCAGTCACCCCTTCTCCCATCCTTCCCCCTCTTCTTCCACAAGTCCGCAGCCGAGACACTGTAGTCTCCCAGCCACAGTGATGAGTGCCCTGGAGACTCCACTGACCTCTAGATGAAGGCCCCTGGCCCTGGTTCCTGTTAATTAACCTCTGGGTCTTTGAGTCCCCCAGCACAAACTTCTTTCCTGTACCCTGCGGCTTGGGGTCACAGGGCATGCCGGGAAGCCACAGCTGAGGGGCGCAGACTGAAGCAGTGCTCCACCTCTCCTTCTTTAGCTCAGGGGTTGCTGGTCTGTGGCAGGCGCCACGAGTGGCCCCTGTGGCTGTTCTCAGTGGCAGTCTCTTAAGTTCCCACCACAGGCAGCTCTTTATCCCCTCTCCCTACTTGACTCTTTCTCTTGCCTGTGCTTTTGGCCTCAAACAGGCCTGCTGGTAGCGCTCAGGGCGTGAGGCTACACTCCTGCCCTGCCTTTCCTGTCTTCATGGTCTGCCAGGGCATACCTTGGGGAGGTGGACCAAAGACCCAGGACTTTTTGCAGTAGCCAGTCCTACCCCCCAGTTGTCTTTTTACCAATTCAGGGTGGGAGAGAAAACTGCAGCACCCCAGCATGTGAGTTACTCAGGTGTTGGGGGCTAGAAGGGACAGTGCGTTTAAACAACACTCAGAGCTCTGGCCTTAAACCTGTGGCCCCCCAAGTCTAGGAGCCTCATCTCTTCCTGGCAGTCATGCGGGCAGGAGGTCCTGAAAGGGAAAACCCATTCAGACAACTGTTCCCCAATCTACCAGCCATCTGCAGGGGTCAGTGACCGTGGCCCTCTCCCTCCTCTAGAATGTGCCACTTATGAAGAGTGCCCCATGGGGAAAAGGAGACTCAGCTGTCCCTTGGCAGCTTGTGCCAGTATCCCAGGGCAGAAGTTTCCACAGGAGCCTCTTGCCCTTGCGCAGAGCCACTGTGAGAGGCGGTGGGAGCCAACACCCTTGGGGGAGGGGGCAGTACTGCTCGGCACATCCCAGCATCAGGTCAGATCATTGAAATTAAAAAATGTGAATTAAGTTCATATCCACCTTTTGGGGAAGCAGGACAAACCACCACCCCACCAAGTGTGTGACTTCTCCATATCCCACTGCAGTTTCCATTTTTTAAATGGGAATTTTCAATCCCCTGTGCTTGTCTAACGTCTGCTTTAAAAAGTTTGAGACCCTGTTACTGTTTGAAAATGCATGCATGTTACGATGAATCTCCAACCTGAGGAAAAAAATAAAACTCAAAAAGCTTTGTGTACA)$ MRRDVNGVTKSRFE|INELSNVPVPVMLMPDDFKAYSKIKVDNHLFNKENLPSRFKFKEfCPMVFRNLRERFGIDDQDYQNSVTRSAPINSDSQGRCGTRFLTTYDRRFVIKTVSSEDVAEMHNILKKYHQFIVECHGNTLLPQFLGMYRLTVDGVETYMVVTRNVFSHRLTVHRKYDLKGSTVAREASDKEKAKDLPTFKDNDFLNEGQKLHVGEESKKNFLEKLKRDVEFLAQLKIMDYSLLVGIHDVDRAEQEEMEVEERAEDEECENDGVGGNLLCSYGTPPDSPGNLLSFPRFFGPGEFDPSVDVYAMKSHESSPKKEVYFMAIIDILTPYDTKKKAAHAAKTVKHGAGAEISTVNPEQYSKRFNEFMSNILT* 11BR038 ENSG00000108306.13 ENSG00000276293.4 -/- -/- chr17:39402173 chr17:38786920 CDS/splice-site CDS/splice-site deletion 1 1 0 39 875 medium in-frame . |Phosphatidylinositol-4-phosphate_5-Kinase(100%) . . ENSG00000108306.13 ENSG00000276293.4 ENST00000577399.5 ENST00000619039.4 upstream downstream duplicates(1) ^(GCCAAAGGAAGGGTTGCCCGGCTCCAGCCCTGCACCCCCGACCCCCGGCCTCAGGTGCAGCTCCGCAGCCATCCCCGGACCAGGGCGGGCACTTGGCCTGTTGCTCAGCGCAACCACCCTCGCCCTCCCGAGCCATGCACAGGGAGACAAGCGTCCGGCCCCGGCCCCCCAGGCCTCCCTGCAGCACCCCGTAATGTAATGCACTGGGGCGGGGGAGGCGGGGGAGGCGGCGGCGGCGGCAA)CCGCGGAGGCG[g]CGGCGGCAGCCGCACTGCCCCAATCTAGACACATCCAGAA?AGGAGGAAAATGGCTCCGAGCAGGGACCGCCTGCTGCACTTTGGGTTCAAGGCGACA|ATCAATGAGCTGAGCAATGTTCCTGTTCCTGTCATGCTAATGCCAGATGACTTCAAAGCCTACAGCAAGATCAAGGTGGACAATCATCTCTTCAATAA___GGAGAACCTGCCCAGCCGCTTTAAGTTTAAG(GAGTATTGCCCCATGGTGTTCCGAAACCTTCGGGAGAGGTTTGGAATTGATGATCAGGATTACCAG___AATTCAGTGACGCGCAGCGCCCCCATCAACAGTGACAGCCAGGGTCGGTGTGGCACGCGTTTCCTCACCACCTACGACCGGCGCTTTGTCATCAAGACTGTGTCCAGCGAGGACGTGGCGGAGATGCACAACATCTTAAAGAAATACCACCAG___TTTATAGTGGAGTGTCATGGCAACACGCTTTTGCCACAGTTCCTGGGCATGTACCGCCTGACCGTGGATGGTGTGGAAACCTACATGGTGGTTACCAGGAACGTGTTCAGCCATCGGCTCACTGTGCATCGCAAGTATGACCTCAAG___GGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAG___GCCAAGGACTTGCCAACATTCAAAGACAATGACTTCCTCAATGAAGGGCAGAAGCTGCATGTGGGAGAGGAGAGTAAAAAGAACTTCCTGGAGAAACTGAAGCGGGACGTTGAG___TTCTTGGCACAGCTGAAGATCATGGACTACAGCCTGCTGGTGGGCATCCACGACGTGGACCGGGCAGAGCAGGAGGAGATGGAGGTGGAGGAGCGGGCAGAGGACGAGGAGTGTGAGAATGATGGGGTGGGTGGCAACCTACTCTGCTCCTATGGCACACCTCCGGACAGCCCTGGCAACCTCCTCAGCTTTCCTCGGTTCTTTGGTCCTGGGGAATTCGACCCCTCTGTTGACGTCTATGCCATGAAAAGCCATGAAA___GTTCCCCCAAGAAGGAGGTGTATTTCATGGCCATCATTGATATCCTCACGCCATACGATACAAAGAAGAAAGCTGCACATGCTGCCAAAACGGTGAAACACGGG___GCAGGGGCCGAGATCTCGACTGTGAACCCTGAGCAGTACTCCAAACGCTTCAACGAGTTTATGTCCAACATCCTGACGTAGTTCTCTTCTACCTTCAGCCAGAGCCAGAGAGCTGGATATGGGGTCGGGGATCGGGAGTTAGGGAGAAGGGTGTATTTGGGCTAGATGGGAGGGTGGGAGCAGAGTCGGGTTTGGGAGGGCTTTAGCAATGAGACTGCAGCCTGTGACACCGAAAGAGACTTTAGCTGAAGAGGAGGGGGATGTGCTGTGTGTGCACCTGCTCACAGGATGTAACCCCACCTTCTGCTTACCCTTGATTTTTTCTCCCCATTTGACACCCAGGTTAAAAAGGGGTTCCCTTTTTGGTACCTTGTAACCTTTTAAGATACCTTGGGGCTAGAGATGACTTCGTGGGTTTATTTGGGTTTTGTTTCTGAAATTTCATTGCTCCAGGTTTGCTATTTATAATCATATTTCATCAGCCTACCCACCCTCCCCATCTTTGCTGAGCTCTCAGTTCCCTTCAATTAAAGAGATACCCGGTAGACCCAGCACAAGGGTCCTTCCAGAACCAAGTGCTATGGATGCCAGATTGGAGAGGTCAGACACCTCGCCCTGCTGCATTTGCTCTTGTCTGGATTAACTTTGTAATTTATGGAGTATTGTGCACAACTTCCTCCACCTTTCCCTTGGATTCAAGTGAAAACTGTTGCATTATTCCTCCATCCTGTCTGGAATACACCAGGTCAACACCAGAGATCTCAGATCAGAATCAGAGATCTCAGAGGGGAATAAGTTCATCCTCATGGGATGGTGAGGGGCAGGAAAGCGGCTGGGCTCTTGGACACCTGGTTCTCAGAGAACCCTGTGATGATCACCCAAGCCCCAGGCTGTCTTAGCCCCTGGAGTTCAGAAGTCCTCTCTGTAAAGCCTGCCTCCCACTAGGTCAAGAGGAACTAGAGTACCTTTGGATTTATCAGGACCCTCATGTTTAAATGGTTATTTCCCTTTGGGAAAACTTCAGAAACTGATGTATCAAATGAGGCCCTGTGCCCTCGATCTATTTCCTTCTTCCTTCTGACCTCCTCCCAGGCACTCTTACTTCTAGCCGAACTCTTAGCTCTGGGCAGATCTCCAAGCGCCTGGAGTGCTTTTTAGCAGAGACACCTCGTTAAGCTCCGGGATGACCTTGTAGGAGATCTGTCTCCCTGTGCCTGGAGAGTTACAGCCAGCAAGGTGCCCCCATCTTAGAGTGTGGTGTCCAAACGTGAGGTGGCTTCCTAGTTACATGAGGATGTGATCCAGGAAATCCAGTTTGGAGGCTTGATGTGGGTTTTGACCTGGCCTCAGCCTTGGGGCTGTTTTTCCTTGTTGCCCCGCTCTAGACTTTTAGCAGATCTGCAGCCCACAGGCTTTTTTGGAAGGAGTGGCTTCCTGCAGGTGTTCCACCTGCCTTCGGAGCCTGCCACCCAGGCCCTCAGAACTGAGCCACAGGCTGCTCTGGCCAGGAGAGAAACAGCTCTGTTGTTCTGCATTGGGGGAGGTACATTCCTGCATCTTCTCACCCCCTCAACCAGGAACTGGGGATTTGGGATGAGATATGGTCAGACTTGTAGATAACCCCAAAGATGTGAAGATCGCTTGTGAAACCATTTTGAATGAATAGATTGGTTTCCTGTGGCTCCCTCCAAACCTGGCCAAGCCCAGCTTCCGAAGCAGGAACCAGCACTGTCTCTGTGCCTGACTCACAGCATATAGGTCAGGAAAGAATGGAGACGGCATTCTTGGACTTCACTGGGGCTGCTGGATTGGATGGGAAACCTTCTGGAAGAGGCAGATGGGGGTCAAACCACTGCCTTGGCCCCAGGAAGGGGCCATAGGTAGGTCTGAACAACTGCCGCAAGACCACTACATGACTTAGGGAACTTGAAACCAACTGGCTCATGGAGAAAACAAATTTGACTTGGGAAAGGGATTATGTAGGAATAATGTTTGGACTTGATTTCCCCACGTCATAATGAAGAATGGAAGTTTGGATCTGCTCCTCGTCAGGCGCAGCATCTCTGAAGCTTGGAAAGCTGTCTTCCAGCAGCCTCCGTGGCCTCGGGTTCCTACCGGCTTCTCTGCATTTGGTCTGCTGATCATGTTGCCATAATGTGTATGGAAAGTGTAACACATTCTTACTGGTTAAAGACGACTACCAGGTATCTAACTTGTTTAACATTGAGTTTGTGTGTGTGTGTGTATGTTTGTGTGTTTTGTATATTGTTTACATTTTGAGAGGTAGCATTCTGTTTCAAATGCTTTTTGTTTTTCTGACAGTATTGTTGACTGGGTCATAACATTTTGAGCTGTGGTTTGGTGGATTTTCAATTTTTTTTTTTAAAGGTCATTCGCTGTGCTATCTTCAAAACCTTGAGTTTGGCCCCCAATTTTTGGCATTCAAATGTTTAAAAGCTATTTATCTTGGTTTATACAAGTTTCCTTTCTCTTCTTTTTGTCATGGTATTCTATTTGGTCTGCAGTTTGAATGTAGAGAAAGTGGACTGATCCCCCAAGCGTTGTCTGCCCCCACTCTTTCCTCCTTGGGTCCCGCCATTCTTTTACTGGGCAGTCGAGGGCATTGGAGGGGAAGTGACTGCCCTCAGCCTCACTCCCTGGGGCCATGAAGAAAAGCTAAACAGTCTCATGGCATCTCAGAATAATGTTGGGTCTCCCAAGAAGAAAGGTGTAAGAATAACGACATGGCTGATTAGGCGAGGCCAGGATAGGGCTAAGGCCAGGATTCCTGGCTGGCATCCAGTCACCCCTTCTCCCATCCTTCCCCCTCTTCTTCCACAAGTCCGCAGCCGAGACACTGTAGTCTCCCAGCCACAGTGATGAGTGCCCTGGAGACTCCACTGACCTCTAGATGAAGGCCCCTGGCCCTGGTTCCTGTTAATTAACCTCTGGGTCTTTGAGTCCCCCAGCACAAACTTCTTTCCTGTACCCTGCGGCTTGGGGTCACAGGGCATGCCGGGAAGCCACAGCTGAGGGGCGCAGACTGAAGCAGTGCTCCACCTCTCCTTCTTTAGCTCAGGGGTTGCTGGTCTGTGGCAGGCGCCACGAGTGGCCCCTGTGGCTGTTCTCAGTGGCAGTCTCTTAAGTTCCCACCACAGGCAGCTCTTTATCCCCTCTCCCTACTTGACTCTTTCTCTTGCCTGTGCTTTTGGCCTCAAACAGGCCTGCTGGTAGCGCTCAGGGCGTGAGGCTACACTCCTGCCCTGCCTTTCCTGTCTTCATGGTCTGCCAGGGCATACCTTGGGGAGGTGGACCAAAGACCCAGGACTTTTTGCAGTAGCCAGTCCTACCCCCCAGTTGTCTTTTTACCAATTCAGGGTGGGAGAGAAAACTGCAGCACCCCAGCATGTGAGTTACTCAGGTGTTGGGGGCTAGAAGGGACAGTGCGTTTAAACAACACTCAGAGCTCTGGCCTTAAACCTGTGGCCCCCCAAGTCTAGGAGCCTCATCTCTTCCTGGCAGTCATGCGGGCAGGAGGTCCTGAAAGGGAAAACCCATTCAGACAACTGTTCCCCAATCTACCAGCCATCTGCAGGGGTCAGTGACCGTGGCCCTCTCCCTCCTCTAGAATGTGCCACTTATGAAGAGTGCCCCATGGGGAAAAGGAGACTCAGCTGTCCCTTGGCAGCTTGTGCCAGTATCCCAGGGCAGAAGTTTCCACAGGAGCCTCTTGCCCTTGCGCAGAGCCACTGTGAGAGGCGGTGGGAGCCAACACCCTTGGGGGAGGGGGCAGTACTGCTCGGCACATCCCAGCATCAGGTCAGATCATTGAAATTAAAAAATGTGAATTAAGTTCATATCCACCTTTTGGGGAAGCAGGACAAACCACCACCCCACCAAGTGTGTGACTTCTCCATATCCCACTGCAGTTTCCATTTTTTAAATGGGAATTTTCAATCCCCTGTGCTTGTCTAACGTCTGCTTTAAAAAGTTTGAGACCCTGTTACTGTTTGAAAATGCATGCATGTTACGATGAATCTCCAACCTGAGGAAAAAAATAAAACTCAAAAAGCTTTGTGTACA)$ MAPSRDRLLHFGFKAT|INELSNVPVPVMLMPDDFKAYSKIKVDNHLFNKENLPSRFKFKEYCPMVFRNLRERFGIDDQDYQNSVTRSAPINSDSQGRCGTRFLTTYDRRFVIKTVSSEDVAEMHNILKKYHQFIVECHGNTLLPQFLGMYRLTVDGVETYMVVTRNVFSHRLTVHRKYDLKGSTVAREASDKEKAKDLPTFKDNDFLNEGQKLHVGEESKKNFLEKLKRDVEFLAQLKIMDYSLLVGIHDVDRAEQEEMEVEERAEDEECENDGVGGNLLCSYGTPPDSPGNLLSFPRFFGPGEFDPSVDVYAMKSHESSPKKEVYFMAIIDILTPYDTKKKAAHAAKTVKHGAGAEISTVNPEQYSKRFNEFMSNILT* 11BR038 ENSG00000132581.10 ENSG00000173065.13 -/- -/- chr17:28661726 chr17:28766707 CDS/splice-site 5'UTR/splice-site duplication 4 1 0 808 128 medium out-of-frame . MIR_domain(100%)|Protein_family_of_FAM222A(100%) . . ENSG00000132581.10 ENSG00000173065.13 ENST00000247020.9 ENST00000581407.5 upstream downstream . ^(GAAGATTTGGGGCT)CCGCGATACAGTTAGGATGGCTGTAGTACCTCTGCTGTTGTTGGGGGGTTTGTGGAGCGCTGTGGGAGCGTCCAGCCTGGGTGTCGTTACTTGCGGCTCCGTGGTGAAGCTACTCAATACGCGCCACAACGTCCGACTGCACTCACACGACGTGCGCTATGGGTCAG|TGTGAGCCACTGCCCCATGTTGTGTTGATGCCAATCTGCCATGCTAGCCTGTCTACCAGGGCCAGGT(GACCTGTCCTTTCAGCTTCTTTCTCACACGCAGATGAACACTGGACTTCAGAAAT___GGGACACTACACAGAAAATGAGAACTGCTCACTATCCTACCCCAGCCGAATTGGATGCGTATGCTAAGAAGGTCGCAAACAACCCACTGACTATAAAAATCTTCCCCAACAGTGTGAAGGTTCCCCAGCGGAAACACGTTCGTCGTACTGTGAACGGCCTCGACACATCAGCCCAGCGCTACAGCCCCTACCCGACACAGGCTGCCACCAAGGCAGGCCTGCTTGCCATTGTCAAAGTGCCAGCCAAAAGCATACTCAAGGACTTTGACGGCACCCGAGCCCGGTTGCTCCCTGAGGCCATCATGAACCCCCCAGTGGCACCCTATGCTACTGTGGCACCCAGCACTTTAGCCCACCCCCAGGCCCAGGCTCTGGCCCGCCAGCAGGCCCTGCAGCATGCACAGACCCTGGCCCATGCCCCTCCCCAGACGCTGCAGCACCCTCAGGGTATCCCGCCACCCCAGGCACTGTCCCACCCTCAGAGCCTCCAGCAGCCTCAGGGCCTGGGCCACCCTCAGCCCATGGCCCAAACCCAGGGCTTGGTCCACCCTCAGGCCCTGGCTCACCAGGGTCTCCAGCACCCCCACAATCCCTTGCTGCATGGAGGCCGGAAGATGCCAGACTCAGATGCCCCCCCGAATGTGACCGTGTCTACCTCAACTATCCCCCTTTCAATGGCGGCCACTCTGCAGCACAGCCAGCCTCCGGACCTGAGTAGCATCGTGCACCAGATCAACCAGTTTTGCCAGACGAGGGCAGGCATCAGCACTACCTCAGTGTGTGAGGGCCAGATCGCCAACCCCAGCCCCATTAGTCGCAGTCTGCTCATCAATGCAAGCACCCGGGTGTCGACCCACAGCGTCCCCACACCAATGCCTTCATGTGTGGTCAATCCCATGGAGCACACCCACGCGGCCACCGCCGCGTTGCCTGCTGCAGGTCCTGTCAACCTGCCCACAGGCATCTCTCGCGTCCCCACTGGCTACCCTAGCGACCTCAAGCCAGTCACCTGGAACCAGCACCAGCTGGCCCACCTACAGCAGATGTGCAGCGAGGCTAGTGGGACGCCAGCCCCTGGCCTGACAGGCAAGCATGCGGCAGGACGCGAGTTGGCAGGGCCTGGCTTTGTGGGCAAGGCCCCTGCCTACCCGCAGGAACTCTGCCTGGCGCAGTCCTTCCATCTGAAGCCACCCCTGGAAAAGCCGACCCCATCCCCACCAGTCAACGGCATGGCAGCCCCATTGGCCTACCCCAATGGTCACTACTTCCAACCCCTGTGGAACAACATTCTGCCCACTCCCAATAGCGACAGCTCGGGGTCTCAGGACCTTGCCATGCCGTTCCACGGTGGGCAGCCCACAGGTGCACCCCTCGACTGTGCGGCAGCTCCCGGGGCCCACTACCGAGCAGGGACCGGGGGCGGTCCAGTGGCAAGCCAGAACAGCTTGATGCAAACAGTGGATTACCTAAGTGGGGATTTCCAACAGGCCTGCTTCCGAGAACAGAGCCTGGCCATGCTGAGCAAGGCCCACCGAGCCCCTGGCAACCGAGCCCCCGATCCCACAGAGAGTCGAAGTCTTCATATTCAGCACCCAGGGTATAGATAGGTAGCCCTGCTGCCCTCCACGTGCAACACATCATACATCACCCTCCTAGGTTTAGTCTTTTAAGTAACTGGATAGTTTCAAAGTTTCACTGCTCCAGTGTGATCATTCTTAGATGTCTAAGAAAGGGAATTTGGTGGGATCTAAGTGGGGACAGAAGGGGTCCTCTCGTCCTCCCCTCCAGCAACTTTTGGTTTTATGTTAGAACCTAACCCTAAGCCCAGGCTTTTCTCTCCACTGACTGCCTGTCAGCTAGTCTCTCCACCTTGGCCATTTCCAGCCAGCTCCCACCCATCTTTTCTTGAATCTCTTCCTGTTTCCCTTAGGACGACTGAGGTGTGGGCTGACGGAATGCCCTAGTTGAGGTAGTATAGGTGCTCAGGCCCCTAATCCAGACCTCTACCTGTTGCTACCCCCCTTCCCCTCCCTCCAGGACTAAGAAGCAAGATTTCCCAGGTGCTCTGAAAGCTAATTACTTACTCATCGAAGGATCTCAAATCAAAGCTGACCCAGTCTTCATATCCTTCAAGTTCCTTTCCATTCCTCAAGGCTTTGTTTTGTGTCTATATTGATCCCACAGCCACTGCACTTGCCCTTGCCACACTTGATCTCAAGGGCATCTTGGAAGTATTTGACCATTTCTTGAGATATGGGGGGAAAAAGTCTTTGTATTGGCATCTTGGTTCCAGACTCCCCTTTCCAAACCTAGAAAAATACAGTGACCTTTGAGCATACCCAAGATCCCTTTCTCACTGTTGCCTGTCCCCTAACTCACCTCCCCACAGCCCCTATCCTTTCCCCCTCAACAAAAACAAAATCTACCTTACTTGAGGAATTAGGTAGGTAAGGAATGATCACATTGGAGTTTGGGATTAAAAACACCAAAAAAAAAAAAATGCATTTGGTTCTCTCTACACTGGCTAAGAATATTGCTCTACACTGTAAGTTTTAAACGTTACGTTTCTGTATGAATGTAGTGTGGGTTTGAGTAGCATTGTGTGTGAGTGGCCCCACAGGTACATTCACCCTCTAGTGCAGCCCCTCAGTTTAATGAAGGAAAAAAAAACAAACACAAAGCCTTAAGCTCTTTGAGTACTTCCTTTACCAAATGAGCATGGTTCTAACACCTGGAGCTGGGCCTACATTGGAAACAAGCCCCTCCTGCCCTCTGTCCATTCTTAGAGCATACCTTCATCCACTCCATGCTCAGCACGTCTCATCCCAAGCGACAATTAGTTGGCTAGAAACACTTTTCTGTAATTTTAAACTTAGACTGTTTTGTTACAAATTTTTGCACCATTCTGTTAAAGATGCAGAATTGGGCTTTTTTATTTTTTACAGATGAAATAAGCCCTTACCTTTCCTCTTGTCTCTGGGGAATGTCAGCTGATGGTTCTTATTTAAGGTTTTGCATTTTGTTCACTATCCACTACTGTTCGTTAGCCAGAAATTCTCTAGTGATCTGAAGCAATGTGACTGAAGACCAGTTTTAAGTTATGTGTTGGCAAGTTGCCTTATATTTAAAAGGAAAAAGAAAAAAAAAAAAGCCTGATTGTGTTATGCCAAATGATAGCAACATGAAGTCCTAATTTATTGTTCCCAATTGTTTTCCTGCCGTCTGTGAACACTGGTACCTCCCTGTCCTGATCCCCCAGGAGCACCTGTAGCTTCTGACTCAATGCCTTCTCCGAAGGTGTTGGCCGCCATCTCACCCAGGGCCCTCTTCCAGTTCCTGCTTTTCTGAGTCAGATTTAAAGAGCACCACTGTCTTCCCCCTACCCCTTGCTTGATCTCCAAAGCAGATATTCTTGCTGTATTTTTTTTTCCTCCCCAATACCTCTCCCTGAAAGGTGAGCTGCTATTTTAGGAAACTGGACCAGACACCAACTTGGGGGCTTTAAGTCAAACAACCTCAAACCCATCTCTTCCTGTGTAGGGGTGCAAGCCTCTGAAGCTCTCACTCCCACCCTTAGTCTGCATGGAAAATGTACTGTGATCCCCCTGCCCCCAACTGCCCTCGCCTTTGGTGTGAGATGTTCCTTCTTTCGGAGTTCAGCCTGAGTCCCTCTCCCCTCTGCCAGCCAACCCCCAGCCAGCAATAAGGGTCCAAGCCAGGGCCTCCTCTCCACACTCCCTGTCTCCATCCTACACTACCCTAGGGAATACCTGGATTCCCCATTCTATCCACATACTGTAGCATTCATTCTCCATCTCTCTCACCTCACCTGTGGTGGTTTATGGGTGTGATGGGGTTTTTAAGATTATTATAAACCAGTAAAAATAAGAAAACCTC)$ MAVVPLLLLGGLWSAVGASSLGVVTCGSVVKLLNTRHNVRLHSHDVRYGS|v* 11BR038 ENSG00000108306.13 ENSG00000280441.3 -/- +/+ chr17:39303585 chr21:8450147 CDS/splice-site exon/splice-site translocation 0 4 0 204 226 medium out-of-frame . F-box-like(100%)| . . ENSG00000108306.13 ENSG00000280441.3 ENST00000264658.11 ENST00000651813.1 upstream upstream mismatches(1) ^(GGAGAGAGCCGAGCTAGCGACGAGCAGTCGTTGCGGCCGCCGGCGCCGCGGGAGGTGGTGGAGGCCTAGCCGGAGCCGAGAGGTCTCTTGTTCCCGTCCCACGGTCCCGGCGTCACCCCTCCGGCGCCCAGTCCCCGTCCCGGAACTCCCGGGCCTGTCCTGGGCCCCCGGTCTGTGCACTCCGCTCGCCGCAGCGCCCGGCCCGGGCCGCACCCGCCGGCCCCATGAGGAGGGACGTGAACGGAGTGACCAAGAGCAGGTTTGAG___ATGTTCTCAAATAGTGATGAAGCTGTAATCAATAAAAAACTTCCCAAAGAACTCCTGTTACG___)GATATTTTCTTTTCTAGATGTTGTTACCCTGTGCCGCTGTGCTCAGGTCTCCAGG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCCGGCTAATTTTTCTATTTTTACTACAGATGGG(GTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ MRRDVNGVTKSRFEMFSNSDEAVINKKLPKELLLRIFSFLDVVTLCRCAQVSR|asshvsr* 11BR038 ENSG00000278540.5 ENSG00000171446.7(7094),ENSG00000173908.9(2552) -/- ./+ chr17:37179259 chr17:40789644 intron intergenic inversion 4 0 0 1108 6 medium out-of-frame . Acetyl-CoA_carboxylase__central_region(100%),Biotin-requiring_enzyme(100%),Biotin_carboxylase_C-terminal_domain(100%),Biotin_carboxylase__N-terminal_domain(100%),Carbamoyl-phosphate_synthase_L_chain__ATP_binding_domain(100%)| . . ENSG00000278540.5 . ENST00000616317.5 . upstream upstream . ^(GCCGCCTCCGCCCCTCGGCCGTGGAGGCCCCCGCCGGGTGCTGAGCGCCCGCCACCGCCCTCTTGGCCTTTTCCCGGTCCCCGCCGCGCGCCTGCTGCTGTCCCCGTGCCCGAGGACTGGGAGGATGGGGCTGAGCCGCTTGCCTGACTTTTGATCCGACCAGTAATCACTTTGCCCGTGTGGCGCGTGGCCCGTTGCCTGAGGCTTCCTGGCGCGTGGGGCTGTTTGGTCCCCTCCGGAGTGCGGTGAGGCGGGCCGAGCCGGGACTGCCTGGGTTTGGGGATAACGTTCCCATCTCCACCCCTGTTGCAGCAAGGGAAATTGAGGCTGAGGGAACTGGGCCCAGGGACGGCGAGCCGTGGCGCCTCTCCAGTCCGGGCCCCGAAGGGCTGCTCGTGGATGAACCAGACTGATTTTAAGGGGTGAAGAGGGTGCGTTTCAATCAGATGCTCCTGGAACGTCGAAATTGTCTTCTTTGGAAAGAACCATCCCCTCTTTGGGCTTCAGAGGCCCAAATTGAGGCGCAATGATGAGAGGATGTGGTGGTCTACTCTGATGTCAATCTTGAGGGCTAG___GTCTTTTTGGAAGTGGATATCTACTCAGACAGTAAGAATTATAAGAG___CTGTAAGAGCTCATTTTGGAGGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAGATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAGATACACTCTCTGATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAG___GTCCAGCATGTCTGGCTTGCACCTAGTAAAGCAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAGTGATTGAGAAG___GTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGAAATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAG___AATACATTAAGATGGCAGATCACTATGTGCCAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAA___GCAGTGTGGGCTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGG___GTCCTCCAAGCCAGGCCATGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTG___GTCTTCGTGTGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATGGGCTACAG___GCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATGCAGATGACTTCCCTAATCTCTTCAGACAG___GTTCAAGCTGAAGTTCCTGGATCTCCCATATTTGTGATGAGACTAGCCAAACAATCTCGTCATCTGGAGGTGCAGATCTTAGCGGACCAATATGGCAATGCTATCTCTTTGTTTGGTCGTGATTGCTCTGTACAACGCAGGCATCAGAAGATTATTGAAGAAGCACCTGCTACTATTGCTACTCCAGCAGTATTTGAACACATGGAACAG___TGTGCGGTGAAACTTGCCAAAATGGTGGGTTATGTGAGTGCTGGGACTGTGGAATACCTGTACAGCCAGGATGGCAGCTTCTACTTTCTGGAATTGAATCCTCGGCTGCAGGTAGAGCACCCTTGTACAGAGATGGTGGCTGATGTCAATCTCCCTGCAGCACAGCTCCAG___ATTGCCATGGGGATTCCTCTATATAGAATCAAGGATATCCGTATGATGTATGGGGTATCTCCCTGGGGTGATTCTCCCATTGATTTTGAAGATTCTGCACACGTTCCTTGTCCAAGGGGCCATGTTATTGCTGCTCGGATCACTAGTGAAAATCCAGATGAG___GGTTTTAAGCCCAGCTCAGGAACAGTTCAGGAGCTAAATTTCCGCAGCAATAAGAATGTTTGGGGATATTTCAGTGTTGCTGCTGCAGGGGGACTTCATGAATTTGCTGATTCTCAGTTTGGTCACTGCTTTTCTTGGGGAGAAAACAGAGAAGAGGCAATTTC___AAACATGGTGGTGGCTTTGAAGGAGCTGTCTATTCGGGGTGACTTTCGAACTACAGTTGAATACCTGATCAAATTGTTAGAGACTGAAAGCTTTCAGATGAACAGAATTGATACTGGCTGGCTGGACAGACTGATAGCAGAAAAAGTACAG___GCTGAGCGACCTGACACCATGTTGGGGGTTGTGTGTGGTGCCCTCCACGTGGCAGATGTGAGCCTGCGGAATAGCGTCTCTAACTTCCTTCACTCCTTAGAAAG___GGGTCAAGTCCTTCCTGCTCATACACTTCTGAATACAGTAGATGTTGAACTTATCTATGAGGGAGTCAAGTATGTACTTAAG___GTGACTCGACAGTCCCCCAACTCCTATGTGGTGATCATGAATGGCTCATGTGTAGAAGTAGATGTACATCGGCTGAGTGACGGTGGACTGCTCTTGTCCTATGATGGCAGCAGTTATACTACGTATATGAAAGAGGAAGTGGATAG___ATATCGCATCACAATTGGCAATAAAACCTGTGTGTTTGAGAAGGAAAATGACCCATCGGTGATGCGCTCACCTTCTGCTGGGAAGTTAATCCAGTACATTGTAGAAGATGGAGGTCATGTGTTTGCCGGCCAGTGCTATGCTGAGATTGAG___GTAATGAAGATGGTAATGACCTTAACAGCTGTGGAGTCTGGCTGTATCCATTACGTCAAGCGACCTGGAGCAGCTCTTGACCCTGGCTGTGTACTAGCCAAAATGCAACTGGACAACCCCAGCAAGGTTCAGCAG___GCTGAACTTCACACAGGTAGTCTGCCACGGATCCAGAGCACGGCACTCAGAGGCGAGAAACTCCATCGAGTGTTCCATTATGTCCTGGATAATCTGGTCAATGTAATGAATGGATACTGCCTTCCAGATCCTTTCTTTAGCAGCAAG___GTAAAAGACTGGGTAGAGCGATTGATGAAAACCCTCAGAGATCCCTCCCTGCCTCTCCTAGAATTGCAAGATATTATGACCAGTGTGTCTGGCCGCATTCCCCCCAATGTGGAGAAGTCTATCAAGAAGGAAATGGCTCAGTATGCTAGCAACATCACATCAGTCCTCTGTCAGTTTCCCAGCCAGCAG___ATTGCAAACATCCTAGATAGCCATGCAGCTACATTGAACCGGAAATCTGAACGGGAAGTCTTCTTTATGAATACTCAGAGCATTGTTCAGCTGGTACAGAG___GTACCGAAGTGGCATCCGAGGCCACATGAAGGCTGTGGTGATGGATCTGCTCCGGCAGTACCTGCGAGTAGAGACACAATTCCAGAATG___GTCACTATGACAAATGTGTATTCGCCCTCCGAGAAGAGAATAAAAGTGACATGAACACTGTACTGAACTACATCTTCTCTCACGCTCAAGTCACCAAGAAGAATCTTCTGGTCACAATGCTTATT___GATCAGTTGTGTGGCCGGGACCCTACTCTCACTGATGAGCTGCTGAATATTCTCACAGAGCTAACTCAACTCAGTAAGACCACCAATGCCAAAGTAGCACTTCGAGCACGCCAG___GTTCTTATTGCCTCCCATTTGCCATCATATGAGCTTCGCCATAACCAAGTAGAGTCTATCTTCCTATCAGCTATTGACATGTATGGACATCAATTTTGCATTGAGAACCTGCAG___AAACTCATCCTATCAGAAACATCTATTTTTGATGTCCTACCAAACTTCTTCTATCACAGCAACCAAGTAGTGAGGATGGCAGCTCTGGAG___GTGTATGTTCGAAGGGCTTATATTGCCTATGAACTTAACAGCGTACAACACCGCCAGCTTAAGGACAACACCTGTGTGGTGGAATTCCAGTTCATGCTGCCCACATCTCATCCAAACAG___AGGGAACATCCCTACGCTAAACAG___AATGTCCTTCTCCTCCAACCTCAACCACTATGGCATGACCCATGTAGCTAGTGTCAGCGATGTACTGTTGGACAACTCATTCACTCCACCTTGTCAGCGGATGGGCGGAATGGTCTCTTTTCGGACTTTTGAAGATTTTGTCAG___GATCTTTGATGAAGTGATGGGCTGCTTCTCTGACTCCCCACCCCAGAGTCCCACATTCCCTGAGGCAGGTCACACGTCTCTTTATGATGAGGATAAG___GTTCCCAGGGATGAACCAATTCACATTCTCAATGTGGCTATCAAGACTGACTGTGATATTGAGGATGACAGGCTGGCAGCTATGTTCAGAGAATTTACCCAGCAAAAT___AAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAG___GATTTCAGAAAGCAGGTCAACTATGAGGTGGATCGGAGATTTCAT___AGAGAATTCCCTAAATTTTTTACATTCCGAGCAAGGGATAAG___TTTGAGGAGGATCGTATCTATCGTCATCTGGAGCCTGCTCTGGCTTTCCAGTTAGAGCTGAACCGGATGAGAAATTTTGACCTCACTGCCATTCCATGTGCTAATCACAAGATGCACCTGTATCTCGGGGCAGCCAAGGTGGAAGTGGGCACAGAAGTGACAGACTACAGGTTCTTTGTTCGTGCAATCATCAGGCATTCTGATCTGGTCACCAAG___GAAGCTTCTTTTGAATATCTGCAAAATGAAGGGGAGCGGCTACTCCTGGAAGCCATGGATGAGTTGGAAGTTGCTTTTAACAATACAAATGTCCGCACTGACTGTAACCACATCTTCCTCAACTTTGTGCCCACGGTTATCATGGACCCATCAAAG___ATTGAGGAATCCGTGCGGAGCATGGTAATGCGGTATGGAAGTCGCCTGTGGAAATTGCGCGTCCTCCAGGCAGAACTGAAAATCAACATTCGCCTGACGCCAACTGGAAAAGCAATTCCCATCCGCCTCTTCCTGACAAACGAGTCTGGCTATTACTTGGATATCAGCCTATACAAGGAAGTGACTGACTCCAGGACAGCACAG___ATCATGTTTCAGGCATATGGAGACAAACAGGGACCACTGCATGGAATGTTAATCAATACTCCATATGTGACCAAAGACCTGCTGCAATCAAAGAGGTTCCAGGCACAATCCTTAGGGACAACATA)CATATATGATATCCCAGAGATGTTTCGGCAG___TCCCTGATCAAACTCTGGGAGTCTATGTCCACTCAAGCATTTCTTCCATCTCCCCCTCTGCCTTCTGACATGCTGACTTACACTGAACTGGTACTGGATGATCAAGGTCAGCTGGTCCACATGAACAGGCTTCCAGGAGGAAATGAGG|TGCTCCTTACTGTCTCAGGGGCATATGCCCATGTGCCCAACATTCTGGTGGATCCACAAGGTGCAGGAGTCTAACAAAACCCAAAGCAAGTACAAG MWWSTLMSILRARSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGISSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFVVMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKIASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLFRQVQAEVPGSPIFVMRLAKQSRHLEVQILADQYGNAISLFGRDCSVQRRHQKIIEEAPATIATPAVFEHMEQCAVKLAKMVGYVSAGTVEYLYSQDGSFYFLELNPRLQVEHPCTEMVADVNLPAAQLQIAMGIPLYRIKDIRMMYGVSPWGDSPIDFEDSAHVPCPRGHVIAARITSENPDEGFKPSSGTVQELNFRSNKNVWGYFSVAAAGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLIKLLETESFQMNRIDTGWLDRLIAEKVQAERPDTMLGVVCGALHVADVSLRNSVSNFLHSLERGQVLPAHTLLNTVDVELIYEGVKYVLKVTRQSPNSYVVIMNGSCVEVDVHRLSDGGLLLSYDGSSYTTYMKEEVDRYRITIGNKTCVFEKENDPSVMRSPSAGKLIQYIVEDGGHVFAGQCYAEIEVMKMVMTLTAVESGCIHYVKRPGAALDPGCVLAKMQLDNPSKVQQAELHTGSLPRIQSTALRGEKLHRVFHYVLDNLVNVMNGYCLPDPFFSSKVKDWVERLMKTLRDPSLPLLELQDIMTSVSGRIPPNVEKSIKKEMAQYASNITSVLCQFPSQQIANILDSHAATLNRKSEREVFFMNTQSIVQLVQRYRSGIRGHMKAVVMDLLRQYLRVETQFQNGHYDKCVFALREENKSDMNTVLNYIFSHAQVTKKNLLVTMLIDQLCGRDPTLTDELLNILTELTQLSKTTNAKVALRARQVLIASHLPSYELRHNQVESIFLSAIDMYGHQFCIENLQKLILSETSIFDVLPNFFYHSNQVVRMAALEVYVRRAYIAYELNSVQHRQLKDNTCVVEFQFMLPTSHPNRGNIPTLNRMSFSSNLNHYGMTHVASVSDVLLDNSFTPPCQRMGGMVSFRTFEDFVRIFDEVMGCFSDSPPQSPTFPEAGHTSLYDEDKVPRDEPIHILNVAIKTDCDIEDDRLAAMFREFTQQNKATLVDHGIRRLTFLVAQKDFRKQVNYEVDRRFHREFPKFFTFRARDKFEEDRIYRHLEPALAFQLELNRMRNFDLTAIPCANHKMHLYLGAAKVEVGTEVTDYRFFVRAIIRHSDLVTKEASFEYLQNEGERLLLEAMDELEVAFNNTNVRTDCNHIFLNFVPTVIMDPSKIEESVRSMVMRYGSRLWKLRVLQAELKINIRLTPTGKAIPIRLFLTNESGYYLDISLYKEVTDSRTAQIMFQAYGDKQGPLHGMLINTPYVTKDLLQSKRFQAQSLGTTYIYDIPEMFRQSLIKLWESMSTQAFLPSPPLPSDMLTYTELVLDDQGQLVHMNRLPGGNE|vlltvsgayahvpnilvdpqgagv* 11BR038 ENSG00000278540.5 ENSG00000173908.9(3687),ENSG00000264488.1(98) -/- ./+ chr17:37179260 chr17:40803646 CDS/splice-site intergenic inversion 4 0 0 1108 19 medium out-of-frame . Acetyl-CoA_carboxylase__central_region(100%),Biotin-requiring_enzyme(100%),Biotin_carboxylase_C-terminal_domain(100%),Biotin_carboxylase__N-terminal_domain(100%),Carbamoyl-phosphate_synthase_L_chain__ATP_binding_domain(100%)| . . ENSG00000278540.5 . ENST00000616317.5 . upstream upstream . ^(GCCGCCTCCGCCCCTCGGCCGTGGAGGCCCCCGCCGGGTGCTGAGCGCCCGCCACCGCCCTCTTGGCCTTTTCCCGGTCCCCGCCGCGCGCCTGCTGCTGTCCCCGTGCCCGAGGACTGGGAGGATGGGGCTGAGCCGCTTGCCTGACTTTTGATCCGACCAGTAATCACTTTGCCCGTGTGGCGCGTGGCCCGTTGCCTGAGGCTTCCTGGCGCGTGGGGCTGTTTGGTCCCCTCCGGAGTGCGGTGAGGCGGGCCGAGCCGGGACTGCCTGGGTTTGGGGATAACGTTCCCATCTCCACCCCTGTTGCAGCAAGGGAAATTGAGGCTGAGGGAACTGGGCCCAGGGACGGCGAGCCGTGGCGCCTCTCCAGTCCGGGCCCCGAAGGGCTGCTCGTGGATGAACCAGACTGATTTTAAGGGGTGAAGAGGGTGCGTTTCAATCAGATGCTCCTGGAACGTCGAAATTGTCTTCTTTGGAAAGAACCATCCCCTCTTTGGGCTTCAGAGGCCCAAATTGAGGCGCAATGATGAGAGGATGTGGTGGTCTACTCTGATGTCAATCTTGAGGGCTAG___GTCTTTTTGGAAGTGGATATCTACTCAGACAGTAAGAATTATAAGAG___CTGTAAGAGCTCATTTTGGAGGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAGATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAGATACACTCTCTGATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAG___GTCCAGCATGTCTGGCTTGCACCTAGTAAAGCAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAGTGATTGAGAAG___GTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGAAATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAG___AATACATTAAGATGGCAGATCACTATGTGCCAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAA___GCAGTGTGGGCTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGG___GTCCTCCAAGCCAGGCCATGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTG___GTCTTCGTGTGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATGGGCTACAG___GCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATGCAGATGACTTCCCTAATCTCTTCAGACAG___GTTCAAGCTGAAGTTCCTGGATCTCCCATATTTGTGATGAGACTAGCCAAACAATCTCGTCATCTGGAGGTGCAGATCTTAGCGGACCAATATGGCAATGCTATCTCTTTGTTTGGTCGTGATTGCTCTGTACAACGCAGGCATCAGAAGATTATTGAAGAAGCACCTGCTACTATTGCTACTCCAGCAGTATTTGAACACATGGAACAG___TGTGCGGTGAAACTTGCCAAAATGGTGGGTTATGTGAGTGCTGGGACTGTGGAATACCTGTACAGCCAGGATGGCAGCTTCTACTTTCTGGAATTGAATCCTCGGCTGCAGGTAGAGCACCCTTGTACAGAGATGGTGGCTGATGTCAATCTCCCTGCAGCACAGCTCCAG___ATTGCCATGGGGATTCCTCTATATAGAATCAAGGATATCCGTATGATGTATGGGGTATCTCCCTGGGGTGATTCTCCCATTGATTTTGAAGATTCTGCACACGTTCCTTGTCCAAGGGGCCATGTTATTGCTGCTCGGATCACTAGTGAAAATCCAGATGAG___GGTTTTAAGCCCAGCTCAGGAACAGTTCAGGAGCTAAATTTCCGCAGCAATAAGAATGTTTGGGGATATTTCAGTGTTGCTGCTGCAGGGGGACTTCATGAATTTGCTGATTCTCAGTTTGGTCACTGCTTTTCTTGGGGAGAAAACAGAGAAGAGGCAATTTC___AAACATGGTGGTGGCTTTGAAGGAGCTGTCTATTCGGGGTGACTTTCGAACTACAGTTGAATACCTGATCAAATTGTTAGAGACTGAAAGCTTTCAGATGAACAGAATTGATACTGGCTGGCTGGACAGACTGATAGCAGAAAAAGTACAG___GCTGAGCGACCTGACACCATGTTGGGGGTTGTGTGTGGTGCCCTCCACGTGGCAGATGTGAGCCTGCGGAATAGCGTCTCTAACTTCCTTCACTCCTTAGAAAG___GGGTCAAGTCCTTCCTGCTCATACACTTCTGAATACAGTAGATGTTGAACTTATCTATGAGGGAGTCAAGTATGTACTTAAG___GTGACTCGACAGTCCCCCAACTCCTATGTGGTGATCATGAATGGCTCATGTGTAGAAGTAGATGTACATCGGCTGAGTGACGGTGGACTGCTCTTGTCCTATGATGGCAGCAGTTATACTACGTATATGAAAGAGGAAGTGGATAG___ATATCGCATCACAATTGGCAATAAAACCTGTGTGTTTGAGAAGGAAAATGACCCATCGGTGATGCGCTCACCTTCTGCTGGGAAGTTAATCCAGTACATTGTAGAAGATGGAGGTCATGTGTTTGCCGGCCAGTGCTATGCTGAGATTGAG___GTAATGAAGATGGTAATGACCTTAACAGCTGTGGAGTCTGGCTGTATCCATTACGTCAAGCGACCTGGAGCAGCTCTTGACCCTGGCTGTGTACTAGCCAAAATGCAACTGGACAACCCCAGCAAGGTTCAGCAG___GCTGAACTTCACACAGGTAGTCTGCCACGGATCCAGAGCACGGCACTCAGAGGCGAGAAACTCCATCGAGTGTTCCATTATGTCCTGGATAATCTGGTCAATGTAATGAATGGATACTGCCTTCCAGATCCTTTCTTTAGCAGCAAG___GTAAAAGACTGGGTAGAGCGATTGATGAAAACCCTCAGAGATCCCTCCCTGCCTCTCCTAGAATTGCAAGATATTATGACCAGTGTGTCTGGCCGCATTCCCCCCAATGTGGAGAAGTCTATCAAGAAGGAAATGGCTCAGTATGCTAGCAACATCACATCAGTCCTCTGTCAGTTTCCCAGCCAGCAG___ATTGCAAACATCCTAGATAGCCATGCAGCTACATTGAACCGGAAATCTGAACGGGAAGTCTTCTTTATGAATACTCAGAGCATTGTTCAGCTGGTACAGAG___GTACCGAAGTGGCATCCGAGGCCACATGAAGGCTGTGGTGATGGATCTGCTCCGGCAGTACCTGCGAGTAGAGACACAATTCCAGAATG___GTCACTATGACAAATGTGTATTCGCCCTCCGAGAAGAGAATAAAAGTGACATGAACACTGTACTGAACTACATCTTCTCTCACGCTCAAGTCACCAAGAAGAATCTTCTGGTCACAATGCTTATT___GATCAGTTGTGTGGCCGGGACCCTACTCTCACTGATGAGCTGCTGAATATTCTCACAGAGCTAACTCAACTCAGTAAGACCACCAATGCCAAAGTAGCACTTCGAGCACGCCAG___GTTCTTATTGCCTCCCATTTGCCATCATATGAGCTTCGCCATAACCAAGTAGAGTCTATCTTCCTATCAGCTATTGACATGTATGGACATCAATTTTGCATTGAGAACCTGCAG___AAACTCATCCTATCAGAAACATCTATTTTTGATGTCCTACCAAACTTCTTCTATCACAGCAACCAAGTAGTGAGGATGGCAGCTCTGGAG___GTGTATGTTCGAAGGGCTTATATTGCCTATGAACTTAACAGCGTACAACACCGCCAGCTTAAGGACAACACCTGTGTGGTGGAATTCCAGTTCATGCTGCCCACATCTCATCCAAACAG___AGGGAACATCCCTACGCTAAACAG___AATGTCCTTCTCCTCCAACCTCAACCACTATGGCATGACCCATGTAGCTAGTGTCAGCGATGTACTGTTGGACAACTCATTCACTCCACCTTGTCAGCGGATGGGCGGAATGGTCTCTTTTCGGACTTTTGAAGATTTTGTCAG___GATCTTTGATGAAGTGATGGGCTGCTTCTCTGACTCCCCACCCCAGAGTCCCACATTCCCTGAGGCAGGTCACACGTCTCTTTATGATGAGGATAAG___GTTCCCAGGGATGAACCAATTCACATTCTCAATGTGGCTATCAAGACTGACTGTGATATTGAGGATGACAGGCTGGCAGCTATGTTCAGAGAATTTACCCAGCAAAAT___AAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAG___GATTTCAGAAAGCAGGTCAACTATGAGGTGGATCGGAGATTTCAT___AGAGAATTCCCTAAATTTTTTACATTCCGAGCAAGGGATAAG___TTTGAGGAGGATCGTATCTATCGTCATCTGGAGCCTGCTCTGGCTTTCCAGTTAGAGCTGAACCGGATGAGAAATTTTGACCTCACTGCCATTCCATGTGCTAATCACAAGATGCACCTGTATCTCGGGGCAGCCAAGGTGGAAGTGGGCACAGAAGTGACAGACTACAGGTTCTTTGTTCGTGCAATCATCAGGCATTCTGATCTGGTCACCAAG___GAAGCTTCTTTTGAATATCTGCAAAATGAAGGGGAGCGGCTACTCCTGGAAGCCATGGATGAGTTGGAAGTTGCTTTTAACAATACAAATGTCCGCACTGACTGTAACCACATCTTCCTCAACTTTGTGCCCACGGTTATCATGGACCCATCAAAG___ATTGAGGAATCCGTGCGGAGCATGGTAATGCGGTATGGAAGTCGCCTGTGGAAATTGCGCGTCCTCCAGGCAGAACTGAAAATCAACATTCGCCTGACGCCAACTGGAAAAGCAATTCCCATCCGCCTCTTCCTGACAAACGAGTCTGGCTATTACTTGGATATCAGCCTATACAAGGAAGTGACTGACTCCAGGACAGCACAG___ATCATGTTTCAGGCATATGGAGACAAACAGGGACCACTGCATGGAATGTTAATCAATACTCCATATGTGACCAAAGACCTGCTGCAATCAAAGAGGTTCCAGGCACA)ATCCTTAGGGACAACATACATATATGATATCCCAGAGATGTTTCGGCAG___TCCCTGATCAAACTCTGGGAGTCTATGTCCACTCAAGCATTTCTTCCATCTCCCCCTCTGCCTTCTGACATGCTGACTTACACTGAACTGGTACTGGATGATCAAGGTCAGCTGGTCCACATGAACAGGCTTCCAGGAGGAAATGAG|CCAGCGTCTGTCATTAGGATCCTGACCATCCCAGTTGCCGGGCACGCTCACCCTTCTCCTTCCACCAGGGGGCAGG MWWSTLMSILRARSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGISSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFVVMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKIASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLFRQVQAEVPGSPIFVMRLAKQSRHLEVQILADQYGNAISLFGRDCSVQRRHQKIIEEAPATIATPAVFEHMEQCAVKLAKMVGYVSAGTVEYLYSQDGSFYFLELNPRLQVEHPCTEMVADVNLPAAQLQIAMGIPLYRIKDIRMMYGVSPWGDSPIDFEDSAHVPCPRGHVIAARITSENPDEGFKPSSGTVQELNFRSNKNVWGYFSVAAAGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLIKLLETESFQMNRIDTGWLDRLIAEKVQAERPDTMLGVVCGALHVADVSLRNSVSNFLHSLERGQVLPAHTLLNTVDVELIYEGVKYVLKVTRQSPNSYVVIMNGSCVEVDVHRLSDGGLLLSYDGSSYTTYMKEEVDRYRITIGNKTCVFEKENDPSVMRSPSAGKLIQYIVEDGGHVFAGQCYAEIEVMKMVMTLTAVESGCIHYVKRPGAALDPGCVLAKMQLDNPSKVQQAELHTGSLPRIQSTALRGEKLHRVFHYVLDNLVNVMNGYCLPDPFFSSKVKDWVERLMKTLRDPSLPLLELQDIMTSVSGRIPPNVEKSIKKEMAQYASNITSVLCQFPSQQIANILDSHAATLNRKSEREVFFMNTQSIVQLVQRYRSGIRGHMKAVVMDLLRQYLRVETQFQNGHYDKCVFALREENKSDMNTVLNYIFSHAQVTKKNLLVTMLIDQLCGRDPTLTDELLNILTELTQLSKTTNAKVALRARQVLIASHLPSYELRHNQVESIFLSAIDMYGHQFCIENLQKLILSETSIFDVLPNFFYHSNQVVRMAALEVYVRRAYIAYELNSVQHRQLKDNTCVVEFQFMLPTSHPNRGNIPTLNRMSFSSNLNHYGMTHVASVSDVLLDNSFTPPCQRMGGMVSFRTFEDFVRIFDEVMGCFSDSPPQSPTFPEAGHTSLYDEDKVPRDEPIHILNVAIKTDCDIEDDRLAAMFREFTQQNKATLVDHGIRRLTFLVAQKDFRKQVNYEVDRRFHREFPKFFTFRARDKFEEDRIYRHLEPALAFQLELNRMRNFDLTAIPCANHKMHLYLGAAKVEVGTEVTDYRFFVRAIIRHSDLVTKEASFEYLQNEGERLLLEAMDELEVAFNNTNVRTDCNHIFLNFVPTVIMDPSKIEESVRSMVMRYGSRLWKLRVLQAELKINIRLTPTGKAIPIRLFLTNESGYYLDISLYKEVTDSRTAQIMFQAYGDKQGPLHGMLINTPYVTKDLLQSKRFQAQSLGTTYIYDIPEMFRQSLIKLWESMSTQAFLPSPPLPSDMLTYTELVLDDQGQLVHMNRLPGGNE|pasviriltipvaghahpspstrgq 11BR038 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 1 3 0 25 5 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGA)CAGCCCAAGCATGGGGCGATACAGaTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTGGCCACATTGAGGAATCGTGTAAAATGAATGTATGTGCTCGTAAGTGAAATATATGCAGTGTTCCAACTCAATATGTTGGATCCTAATAGACCTGGATTTGTCTTGTGTAAAAAGAAATCGATTCCCAAGGGGCAGG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnpsghieesckmnvcark* 11BR038 ENSG00000169851.15 ENSG00000250624.1(257291),ENSG00000251182.2(28540) +/+ ./+ chr4:30724596 chr4:31142473 CDS/splice-site intergenic deletion 0 2 0 25 17 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGAT)CAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATGGCCACTCAGACTCCTGCTGGATGCCGGTCCGCACTTCTCCGGAGAGGAAGAAGAGCCAGCCTAAACTGTCCACTTTCATGCCTGTTGATGAACGAGGAAGCCAGGAAAAGCTG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|iqglfqm* 11BR038 ENSG00000054654.18 ENSG00000236751.2 +/+ -/- chr14:64152716 chrX:46267474 CDS/splice-site intron translocation 1 1 0 49 2 medium out-of-frame . Calponin_homology_(CH)_domain(100%),Spectrin_repeat(100%)| . . ENSG00000054654.18 ENSG00000236751.2 ENST00000344113.8 . downstream downstream . ^(GCCAAGGAGCGGAGCGCGCTCAGCTGCGCCCAGAGCCTTCGGCCGGACCTGAAAAAGCGAGAGGGAGAGCGAGCAAAAGGCGCGATCCAGAGAGCCAGGCAAGCGGGGCGCCGACCTCGGGCGGCCCCGGCCCGCGCCCTTGCCCCTCGGCCGGGCGGACG___TTCACTTCTTCAACTGAGATGGACATGATATAATCTCCATTGAGTCAAAGAATGGCATCTAGTCCTGAGCTTCCCACCGAAGATGAACAGGGTTCCTGGGGCATCGACGATCTCCATATTTCATTGCAAG___CTGAACAGGAAGACACCCAGAAGAAAGCCTTCACGTGCTGGATAAACTCACAGTTGGCCAGG___CACACTTCTCCCTCAGTTATATCCGACCTATTCACAGACATTAAAAAGGGGCATGTCCTCCTGGATCTGCTAGAAGTACTTTCTGGGCAACAGTTG___CCTCGGGATAAAGGATCTAATACCTTCCAGTGTAGAATCAATATAGAACATGCCTTGACATTCCTAAGAAACCGATCA___ATTAAGCTAATAAATATTCATGTTACTGATATCATTGATGGAAACCCATCCATTATCCTTGGCCTAATTTGGACAATTATCCTGCACTTTCAT___ATTGAGAAGCTTGCCCAGACTCTTTCTTGCAATTACAATCAGCCTTCCCTGGATGATGTGAGTGTGGTTGACTCATCTCCTGCCTCAAGTCCTCCAGCTAAGAAATGCTCTAAAGTGCAAGCAAGATGGCAAATGTCTGCAAGAAAGGCCCTTCTTTTGTGGGCTCAGGAACAATGCGCCAC___CTATGAGTCTGTCAATGTGACCGATTTTAAGTCAAGTTGGAGAAATGGGATGGCTTTTTTGGCCATCATTCATGCCTTGCGACCAGACCTAATTGACATGAAGAGTGTGAAGCATAGATCCAACAAAGACAATCTGAGAGAGGCCTTCAGAATTGCAGAACAAGAATTAAAAATCCCCAGATTGCTGGAACCAGAAG___ATGTGGATGTTGTTGATCCTGATGAAAAGTCCATCATGACCTATGTGGCACAGTTTCTGCAGTATTCCAAAGATGCCCCTGGGACTGGAGAGGAGGCTCAG___GGAAAGGTGAAAGATGCTATGGGCTGGTTAACTCTGCAAAAGGAAAAACTACAGAAGTTGCTAAAGGATTCAGAGAATGATACCTACTTTAAAAAGTATAAT___AGCCTGCTGTCCTTTATGGAGTCATTCAATGAAGAAAAAAAGTCCTTTTTGGATGTCCTGTCAATAAAACGGGATCTGGATGAGCTGGACAAGGATCATTTACAGTTGAGAGAAGCCTGGGATGGCCTCGATCACCAG___ATTAATGCATGGAAAATAAAGCTAAATTATGCCTTGCCCCCACCCCTCCATCAAACTGAAGCTTGGCTCCAGGAGGTAGAAGAGCTTATGGATGAAGATTTGTCAGCCTCCCAGGATCACTCTCAAGCCGTGACTCTGATACAAGAGAAAATGACTTTATTCAAG___AGCCTGATGGATAGATTTGAGCATCATTCGAACATTCTCCTTACCTTTGAAAATAAGGATGAAAATCACTTGCCATTGGTACCACCTAACAAATTGGAGGAAATGAAAAGACG___AATCAACAACATTTTGGAGAAAAAATTTATTCTACTTCTAGAATTTCATTACTACAAGTGCTTAGTTCTTGGTTTGGTAGATGAAGTGAAATCAAAATTGGATATTTGGAACATTAAATATGGGAGCAGAGAATCTGTGGAATTATTGCTGGAAGACTGGCAT___AAATTTATTGAAGAAAAAGAATTCCTAGCTCGACTTGATACTTCTTTTCAAAAATGTGGAGAAATTTATAAGAATTTGG___CTGGAGAATGTCAGAATATTAATAAACAGTATATGATGGTGAAATCTGATGTTTGTATGTATAGAAAAAATATATATAATGTGAAGTCCACTCTACAAAAAGTGCTGGCATGTTGGGCTACTTATGTGGAAAACCTTCGCTTACTAAGGGCTTGCTTTGAGGAGACAAAGAAGGAAGAAATTAAAGAG___GTACCCTTTGAGACACTAGCCCAGTGGAATCTAGAACACGCTACTTTAAATGAAGCAGGAAATTTCTTAGTCGAAGTCAGCAATGATGTGGTTGGATCATCTATTTCTAAAGAACTGAGAAGGCTGAATAAAAGATGGAGAAAGTTGGTTTCAAAAACTCAACTT___GAAATGAACCTGCCACTGATGATAAAAAAACAGGATCAGCCCACTTTTGACAATTCTGGAAATATTCTATCTAAAGAAGAGAAAGCAACTGTTGAGTTTTCAACAGATATGTCAGTAGAACTTCCTGAAAATTATAATCAAAATATAAAG___GCTGGAGAGAAACATGAAAAAGAAAATGAAGAATTCACAGGGCAACTAAAAGTGGCTAAAGATGTTGAAAAACTCATTGGACAAGTGGAAATCTGGGAGGCAGAAGCCAAATCTGTTTTGGATCAAGATGATGTGGACACCTCAATGGAAGAATCTTTGAAG___CATCTTATTGCCAAAGGCTCTATGTTTGATGAGCTTATGGCAAGAAGTGAAGATATGTTACAAATGGATATACAAAATATTTCAAGCCAGGAGTCCTTTCAACATGTTCTCACAACTGGGCTTCAGGCAAAGATTCAAGAAGCTAAAGAGAAAGTCCAG___ATCAATGTGGTAAAACTCATTGCAGCGTTGAAGAACTTAACTGACGTTTCACCAGATTTGGACATCAGGCTGAAGATGGAAGAATCCCAGAAGGAACTTGAATCATATATGATGAGGGCTCAGCAGTTACTGGGGCAAAGAGAGAGCCCCGGTGAACTCATTTCAAAACACAAG___GAAGCACTAATAATTTCTAATACAAAAAGTCTGGCCAAGTATTTGAAAGCTGTTGAAGAACTAAAAAATAATGTAACTGAGGACATAAAGATGTCTTTAGAAGAAAAGAGTAGAGATGTCTGTGCCAAATGGGAG___TCTCTTCATCATGAACTGTCTTTATATGTTCAACAACTAAAAATAGATATTGAAAAAGGAAAGCTTAGTGACAATATTTTAAAACTTGAAAAGCAAATAAATAAAGAAAAGAAACTTATCCGTAGAGGAAGGACCAAGGGTCTCATCAAAGAACATGAG___GCCTGCTTTTCTGAGGAAGGCTGCCTGTACCAGCTTAATCACCACATGGAAGTCCTGAGGGAGCTGTGTGAAGAGCTGCCTTCACAGAAGAGTCAACAAGAAGTGAAGAGACTACTCAAAGATTATGAACAAAAGATAGAAAGACTTCTGAAATGTGCTTCCGAGATTCATATGACACTGCAGCCCACAGCGGGAGGCACGTCGAAAAACGA___GGGGACCATCACCACATCTGAGAATAGAGGAGGGGATCCCCACAGTGAGGCACCATTTGCAAAATCAGATAATCAGCCATCAACTGAAAAG___GCAATGGAACCCACTATGAAGTTTAGCCTGGCATCAGTGTTAAGGCCTCTGCAAGAAGAAAGCATTATGGAAAAGGATTACAGTGCATCTATAAATAGTTTACTAGAGAG___GTATGATACATACAGAGATATTCTTGAACACCACCTGCAAAACAACAAATTCAGGATTACTTCTGATTTCTCTAGTGAAGAGGACAGGAGTAGTTCTTGTCTGCAGGCTAAACTGACAGATCTACAG___GTCATAAAAAATGAAACTGATGCTCGCTGGAAAGAGTTTGAAATTATTTCATTGAAGTTAGAAAATCATGTGAATGACATAAAAAAGCCTTTTGTAATTAAGGAAAGAGACACACTAAAGGAAAGAGAAAGAGAGCTTCAGATGACTCTTAATACCAG___AATGGAATCTTTAGAGACAGCACTGCGGCTTGTGTTACCTGTAGAGAAGGCATCACTTCTTCTCTGTGGCTCGGACCTGCCTCTCCATAAAATGGCCATCCAGGGATTTCATCTCATTGATGCTGATCGCATCTATCAACACCTAAGG___AATATCCAAGATTCCATAGCAAAACAGATTGAAATATGTAACCGCTTAGAAGAGCCAGGCAACTTTGTATTAAAGGAGTTACACCCATTTGATCTACACGCAATGCAGAATATTATACTGAAATACAAAACACAATTTGAAGGAATGAACCACAGGGTGCAGAGGAGTGAAGATACTCTCAAAGCTCTGGAAGACTTTTTGGCGTCTCTCAGAACAGCTAAACTCTCTGCTGAGCCCGTTACAGACCTTTCAGCCTCAGATACACAGGTGGCACAAGAAAATACGTTGACAGTAAAAAATAAAGAGGGAGAAATTCATCTGATGAAAGACAAGGCCAAACATTTGGATAAATGTTTGAAGATGCTCGATATGAGCTTTAAAGATGCTGAACGGGGTGATGACACCTCCTGTGAAAACCTGCTTGATGCTTTTTCAATAAAGTTATCTGAGACACATGGCTATGGGGTACAGGAGGAATTCACTGAGGAAAACAAATTACTAGAGGCTTGTATTTTCAAAAATAATGAACTCCTTAAAAATATTCAAGATGTGCAGAGTCAAATCAGTAAAATTGGTCTTAAGGATCCTACTGTTCCAGCTGTGAAACATCG___GAAAAAATCATTAATCAGACTGGATAAGGTTCTAGATGAATATGAAGAAGAGAAGAGACATTTACAAGAAATGGCTAATTCTCTTCCACACTTCAAAGATGGCAGAGAAAAAACCGTGAATCAACAGTGCCAAAATACAGTAGTCTTGTGGGAGAATACCAAAGCCTTGGTCACCGAATG___TCTTGAACAATGTGGGAGAGTTTTGGAGCTCTTAAAACAATATCAGAATTTTAAAAGCATCTTGACAACTTTGATTCAAAAAGAAGAGAGTGTCATCTCCCTGCAGGCTTCGTACATGGGAAAGGAGAACCTGAAGAAAAGGATAGCAGAG___ATTGAAATTGTCAAAGAAGAATTTAATGAGCATTTAGAAGTTGTAGACAAGATAAACCAGGTCTGCAAAAATCTACAATTTTATCTAAATAAAATGAAAACTTTTGAAGAGCCCCCTTTTGAAAAAGAGGCTAATATTATTGTGGATAGATGGCTTGAT___ATAAATGAGAAGACAGAAGATTACTATGAAAATCTTGGTCGAGCTCTAGCTTTGTGGGACAAACTTTTTAACTTAAAAAATGTCATTGATGAGTGGACAGAAAAGGCCCTTCAAAAAATGGAATTACATCAATTGACTGAAGAGGACAGAGAAAGGCTGAAG___GAAGAATTACAAGTCCATGAACAAAAAACTTCAGAATTTTCTAGAAGAGTGGCTGAAATACAGTTTTTGCTCCAAAGCAGTGAAATACCTCTTGAATTGCAG___GTCATGGAGTCCTCTATTTTGAACAAGATGGAACATGTACAGAAGTGCTTAACAGGAGAATCCAACTGCCATGCACTCAGTGGCAGCACTGCTGAGCTAAGGGAGGATCTCGACCAAGCCAAGACCCAGATCGGGATGACTGAATCCCTCTTAAAAGCCCTGTCTCCTTCTGACAGCTTGGAGATCTTCACTAAACTAGAG___GAGATACAACAGCAGATTCTACAGCAAAAACACAGTATGATATTACTTGAGAATCAAATAGGTTGTCTGACTCCTGAACTCTCTGAATTGAAAAAGCAATATGAAAGTGTCAGTGATTTATTTAATACCAAAAAAAGTGTTTTGCAAGATCACTTTTCTAAGTTATTGAATG___ATCAATGCAAGAACTTTAATGACTGGTTCAGCAACATTAAAGTGAACCTTAAGGAGTGTTTTGAATCATCAGAAACAAAAAAGAGTGTGGAACAAAAGCTACAAAAACTTTCT___GATTTCTTGACTCTTGAAGGAAGAAACAGTAAAATAAAGCAGGTGGACAGCGTACTGAAGCATGTGAAGAAGCATCTGCCCAAAGCACATGTGAAGGAGCTTATCAGTTGGCTCGTGGGTCAGGAATTCGAATTAGAAAAAATGGAGTCCATATGCCAGGCTCGAGCAAAGGAGCTTGAAGACTCCTTGCAGCAGCTACTGAG___ACTCCAGGATGACCATAGAAACCTGAGGAAGTGGTTGACTAATCAAGAAGAGAAATGGAAAGGAATGGAAGAACCAGGGGAGAAAACTGAGCTGTTCTGCCAAGCTTTAGCTAGAAAGAG___GGAACAGTTTGAATCTGTGGCCCAATTGAACAACTCTTTGAAGGAATATGGGTTTACTGAAGAAGAAGAAATAATAATGGAAGCAACATGTTTGATGGATAGATACCAGACATTACTGAGACAACTAAGTGAAATCGAGGAAGAGGATAAGTTACTACCCACAGAGGACCAGAGCTTTAATGATCTTGCACATGATGTAATTCATTGGATAAAAGAGATTAAAGAGTCCCTTATGGTTTTGAATTCATCCGAAGGCAAAATGCCACTTGAGGAAAGAATCCAAAAAATCAAG___GAAATCATTTTGCTGAAGCCTGAAGGGGATGCCAGAATAGAGACCATCATGAAGCAGGCTGAGAGCAGCGAGGCCCCGCTGGTTCAGAAGACCCTCACTGACATCAGCAACCAGTGGGACAACACACTCCATTTAGCTAGCACCTACCTAAG___CCATCAAGAAAAGCTTCTACTAGAAGGAGAGAAATATTTACAAAGTAAGGAGGATCTGAGATTAATGCTCATAGAACTAAAGAAGAAACAGGAAGCAGGCTTTGCTCTACAACATGGTCTGCAGGAGAAGAAAGCTCAGTTAAAGATTTATAAGAAATTCCTCAAGAAAGCCCAAGATTTGACATCCTTGCTAAAGGAGTTAAAATCTCAGGGAAACTACCTCTTGGAGTGCACTAAAAATCCCAGCTTCAGTGAAGAGCCTTGGCTGGAAATAAAGCATCTACACGAAAGTCTTCTTCAACAACTGCAG___GATTCTGTGCAAAACTTGGACGGTCACGTTCGAGAACATGATTCATACCAGGTTTGCGTCACAGACCTGAATACTACATTGGACAATTTCTCCAAGGAATTTGTCAGTTTTTCTGATAAGCCTGTGGATCAAATAGCGGTTGAGGAAAAATTGCAGAAACTGCAG___GAACTAGAGAATAGACTCAGTTTACAAGATGGCACATTAAAGAAGATTTTAGCTTTAGCAAAATCCGTCAAGCAAAATACATCTTCAGTGGGGCAGAAGATTATTAAAGATGATATAAAATCACTTCAGTGTAAACAAAAAGATTTGGAAAACAGGCTTGCATCTGCTAAGCAGGAGATGGAATGTTGTCTCAACAGCATTCTCAAATCAAAACGCTCAACAGAAAAGAAAGGAAAGTTTACTCTGCCAGGCAGAGAGAAGCAGGCCACTTCTGATGTGCAGGAGTCTACTCAGGAATCAGCTGCAGTGGAAAAGTTGGAGGAAGACTGGGAAATAAACAAG___GATTCAGCTGTGGAAATGGCTATGTCAAAACAACTTTCTCTTAATGCTCAAGAAAGCATGAAAAACACTGAAGATGAGCGGAAAGTCAATGAGCTGCAAAATCAACCTTTAGAATTAGATACTATGTTAAGAAATGAACAATTAGAAGAGATAGAG___AAATTATATACCCAGTTGGAAGCAAAGAAAGCAGCCATTAAGCCACTGGAACAAACAGAATGTCTTAACAAAACAGAAACTGGGGCCTTGGTTCTCCACAATATAGGATATTCGGCACAGCATTTGGACAATTTGCTTCAGGCACTTATTACTTTGAAGAAAAACAAAGAAAGCCAATATTGTGTCCTCAGAGATTTTCAGGAATACCTTGCTGCAGTTGAATCTTCAATGAAAGCCTTGTTGACAGACAAGGAAAGTCTTAAAGT___AGGACCACTGGACAGTGTAACGTATCTGGACAAAATTAAAAAATTCATAGCATCCATAGAAAAAGAGAAAGATTCTTTAGGCAACTTGAAAATCAAATGGGAGAATTTATCAAACCACGTGACTGACATGGATAAGAAATTGTTGGAAAGCCAGATTAAGCAACTTGAACATGGTTGGGAACAAGTGGAACAGCAGATTCAAAAGAAGTATTCTCAGCAGGTAGTGGAATATGATGAATTTACAACCCTCATGAATAAGGTACAGGACACTGAGATTTCTCTGCAACAGCAGCAGCAACATCTACAGTTAAGGCTGAAGTCTCCAGAAGAACGGGCAGGGAACCAAAGCATGATTGCCTTGACCACTGACCTCCAGGCTACCAAGCATGGATTTTCTGTTTTAAAGGGGCAAGCTGAACTTCAGATGAAGAGGATTTGGGGAGAAAAAGAAAAGAAGAATTTGGAGGATGGAATAAATAACTTGAAGAAACAATGGGAAACATTGGAGCCATTACACTTAGAAGCAGAAAATCAGATTAAGAAGTGTGACATAAGGAACAAGATGAAAGAGACTATCTTATGGGCCAAGAATTTGTTGGGTGAACTTAATCCCTCCATTCCCCTTCTCCCAGATGACATTCTTTCACAGATCAGAAAGTGCAAAGTGACACATGATGGCATTCTAGCTAGGCAGCAGTCTGTGGAATCGTTGGCTGAAGAGGTCAAAGATAAGGTTCCTAGCCTTACAACCTATGAGGGCAGTGATTTAAATAATACCCTAGAGGACTTACGGAATCAATACCAAATGCTGGTTTTAAAATCAACTCAAAGATCACAGCAATTAGAATTTAAGTTGGAAGAAAGAAGCAATTTTTTTGCTATAATAAGGAAGTTTCAACTTATGGTTCAAGAAAGTGAAACACTGATAATTCCCAGGGTGGAGACAGCTGCCACGGAAGCTGAACTAAAACATCACCATGTTACTTTGGAGGCATCTCAGAAGGAATTGCAAGAAATTGACAGTGGAATCTCAACACATCTTCAGGAGCTAACAAACATCTATGAGGAGCTGAATGTGTTTGAAAGATTATTTCTGGAAGATCAGTTGAAAAATCTTAAGATTAGGACCAACAGAATACAAAGATTCATTCAGAATACATGTAATGAAGTGGAACACAAGATAAAGTTTTGCAGACAATTCCATGAAAAAACATCAGCGCTTCAGGAGGAGGCTGACAGTATACAGCGCAATGAACTATTACTTAATCAAGAAGTAAATAAAGGTGTTAAAGAGGAGATCTATAATCTTAAAGACAGACTCACCGCTATTAAGTGTTGCATCTTACAGGTATTGAAACTTAAAAAAGTGTTTGACTATATTGGACTAAACTGGGATTTTTCACAACTTGACCAATTACAAACCCAAGTATTTGAAAAAGAAAAGGAACTTGAAGAAAAAATTAAGCAGTTGGACACATTTGAGGAAGAACATGGCAAATATCAGGCATTATTAAGTAAAATGAGAGCTATTGATTTGCAAATTAAGAAAATGACTGAAGTAGTACTAAAAGCTCCTGATAGCTCTCCGGAAAGCAGACGGCTCAATGCCCAAATTTTAAGTCAGAGAATTGAGAAAGCCAAGTGTTTATGTGATGAGATAATAAAGAAATTAAATGAAAATAAGACCTTTGATGACTCATTCAAGGAGAAAGAAATACTACAAATAAAGCTGAATGCAGAAGAAAATGATAAGTTATACAAAGTTCTCCAAAACATGGTATTAGAACTCTCACCAAAAGAATTGGATGAAAAGAATTGTCAGGACAAACTAGAAACTTCCTTACATGTTTTAAATCAGATAAAATCTCAATTACAGCAGCCATTACTTATAAATTTGGAAATTAAACATATTCAAAATGAAAAGGACAATTGTGAAGCATTTCAGGAGCAAGTTTGGGCAGAAATGTGTAGTATTAAAGCTGTGACTGCTATTGAGAAACAAAGAGAAGAAAACTCTTCTGAAGCGAGTGATGTGGAGACAAAACTACGTGAGTTTGAAGATCTTCAGATGCAGCTTAACACAAGCATTGATTTGCGCACA___AATGTCTTGAATGATGCTTATGAAAATCTAACACGCTATAAAGAAGCAGTCACCAGGGCAGTGGAGAGCATCACTTCCCTCGAAGCCATCATTATACCCTACAGAGTAGATGTTGGTAATCCAGAAGAATCTTTAGAGATGCCTCTTCGAAAACAAGAGGAATTGGAATCCACAGTAGCACACATCCAGGACCTCACTGAGAAACTGGGAATGATATCCAGCCCCGAAGCCAAACTACAACTTCAGTATACTTTACAGGAACTAGTTTCTAAGAACTCAGCAATGAAGGAAGCTTTCAAAGCACAGGAAACTGAGGCAGAAAG___GTATCTTGAGAATTACAAATGCTATAGAAAAATGGAAGAGGATATTTACACTAACCTCAGCAAAATGGAGACAGTTCTTGGACAGTCCATGTCCTCGTTGCCACTGTCTTACAGAGAAGCTTTAGAGCGCTTGGAACAGAGCAAG___GCCTTGGTGTCAAATCTTATATCAACCAAAGAAGAGTTAATGAAACTACGACAGATCCTTAGACTCTTGAGACTCAGGTGCACAGAAAATGATGGCATATGTTTGCTCAAGATTGTGTCGGCTCTGTGGGAGAAATGGCTGAGTTTGCTGGAAGCTGCTAAAGAGTGGGAGATGTGGTGCGAAGAACTGAAGCAGGAATGGAAATTTGTCAGTGAAGAA___ATTGAACGAGAGGCAATTATTTTAGATAATCTTCAGGAAGAACTCCCTGAAATTTCCAAAACAAAAGAGGCAGCCACCACAGAGGAACTCTCTGAGCTGCTAGACTGTTTATGCCAATATGGAGAGAACGTGGAGAAGCAACAGCTGTTACTGACTCTACTTCTTCAGCGCATCAGAAGTATCCAGAATGTTCCTGAAAGCTCAGGGGCTGTGGAAACTGTTCCAGCATTTCAAGAAATTACTTCTATGAAAGAACGATGCAACAA___GCTTCTTCAGAAAGTTCAGAAAAATAAAGAATTGGTGCAGACTGAAATCCAAGAAAGACATTCCTTCACAAAAGAGATAATTGCTTTGAAGAATTTCTTTCAACAGACCACAACTTCATTCCAAAATATGGCATTCCAGGATCACCCAGAAAAGTCAGAACAATTTGAG___GAGCTTCAAAGCATCCTTAAGAAAGGGAAACTAACTTTTGAGAATATTATGGAAAAACTGCGAATCAAGTATTCCGAAATGTACACCATAGTCCCTGCAGAGATTGAATCCCAGGTGGAAGAATGCAGAAAAGCTTTAGAAGACATAGATGAGAAG___ATTAGCAATGAAGTCTTAAAAAGCTCACCATCATATGCAATGAGGAGAAAAATAGAAGAAATTAACAATGGGCTTCATAATGTTGAAAAGATGTTGCAGCAGAAAAGCAAAAATATTGAGAAAGCTCAAGAAATTCAAAAG___AAAATGTGGGACGAGTTAGATCTATGGCATTCCAAACTAAATGAGCTGGATTCTGAAGTTCAGGACATTGTTGAACAGGACCCAGGACAGGCTCAAGAATGGATGGATAACTTGATGATTCCTTTCCAGCAGTATCAGCAAGTATCACAGAGAGCAGAGTGTAGAACCTCACAGTTGAATAAG___GCCACAGTTAAGATGGAGGAATATAGTGACCTTCTGAAGAGCACTGAGGCTTGGATAGAAAATACCAGTCATTTGCTGGCCAATCCTGCTGACTATGACTCTTTGAGGACACTGAGTCACCATGCTAGCACTGTGCAG___ATGGCTTTGGAAGATTCAGAACAGAAGCACAATCTTTTACATTCAATCTTTATGGATCTAGAAGACCTGTCAATAATTTTTGAAACAGATGAATTAACCCAATCCATACAAGAGTTAAGTAATCAAGTAACAGCTTTACAACAAAAAATAATGGAAAGCCTTCCACAGATTCAGCGAATGGCTGAT___GATGTGGTTGCTATTGAATCTGAAGTAAAATCAATGGAAAAAAGAGTTTCAAAAATCAAAACTATCCTATTATCAAAAGAAATATTTGATTTTTCACCTGAAGAACATCTCAAACATGGGGAG___GTCATACTTGAAAATATACGTCCCATGAAGAAAACCATTGCTGAGATAGTGTCTTACCAAGTGGAACTGAGGTTGCCCCAAACAGGAATGAAACCTCTGCCTGTGTTTCAGCGGACAAATCAGCTTTTACAAGATATAAAACTATTGGAAAATGTGACTCAAGAACAAAATGAGTTATTAAAG___GTAGTCATAAAACAGACCAATGAATGGGATGAAGAAATAGAAAATTTGAAACAGATCTTAAATAATTATTCAGCTCAGTTCTCCCTTGAACATATGTCACCAGACCAAGCTGACAAGCTGCCACAACTACAG___GGAGAAATCGAACGTATGGAGAAACAGATTCTGAGTTTGAACCAGAGAAAAGAAGACCTGTTGGTGGACTTGAAGGCCACCGTACTAAACCTTCACCAGCATTTGAAGCAAGAACAAGAAGGAGTAGAAAGAGATAGGCTGCCAGCTGTAACATCAGAGGAAGGTGGAGTGGCAGAGAGGGATGCTTCTGAGCGGAAG___TTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGAT___AATGGAGATGAGAAGGCAGAGCCATCGCCTCAGTCTTGGTCTTCACTTTGGAAGCATGACAAGGACATGGAAGAAGACAGAGCTTCCTCATCCTCTGGAACAATTGTTCAG___GAAGCATATGGGAAAATAAGCACCTCTGATAATTCCATGGCACAAATCCTCACACCAGACTCACTAAACACTGAGCAAGGCCCAGAATGTTCCCTAAGGCCCAACCAAACAGAAGAG___GGCACCACACCTCCTATTGAGGCTGACACTCTGGACTCTTCTGACGCGCAAGGAGGTTTGGAGCCCAGGGTGGAGAAAACTAGGCCGGAGCCCACAGAAGTCCTGCATGCCTGCAAGACCCAGGTGGCCGAGCTGGAGCTGTGGCTGCAACAAGCCAACGTGGCAGTTGAGCCGGAAACATTAAACGCAGACATGCAGCAGGTGCTGGAACAGCAGCTGGTAGGGTGCCAG___GCTATGCTAACAGAGATTGAGCACAAGGTTGCCTTTCTGTTAGAGACTTGCAAAGATCAGGGCCTGGGAGATAATGGAGCCACTCAACATGAGGCTGAAGCGCTTTCCCTGAAACTGAAAACAGTGAAGTGCAATTTAGAAAAAGTCCAGATGATGCTTCAGGAGAAGCACAGTGAAGATCAG___CATCCTACCATTCTAAAGAAATCCTCAGAGCCAGAGCATCAAGAAGCTCTCCAACCAGTTAACCTTTCTGAATTGGAATCCATTGTAACTGAAAGGCCACAATTCAGCAGACAAAAAGATTTCCAGCAGCAACAG___GTTCTGGAGTTAAAACCAATGGAACAGAAAGATTTCATCAAATTCATAGAATTTAATGCTAAGAAAATGTGGCCCCAGTATTGCCAACATGATAACGATACAACTCAGGAATCATCTGCAAG___CAACCAGGCATCCAGCCCTGAAAATGACGTTCCAGACTCGATCTTGTCACCCCAGGGCCAAAATGGAGATAAGTGGCAATATCTGCATCATGAACTCTCATCAAAAATAAAGCTCCCACTCCCTCAGCTTGTGGAGCCTCAG___GTTTCCACAAATATGGGTATTCTACCCAGCGTGACTATGTATAACTTTAGATACCCAACAACTGAAGAACTGAAAACCTATACCACCCAACTTGAAGACCTGCGCCAAGAAGCAAGTAACCTTCAGACACAG___GAAAATATGACAGAAGAAGCATATATCAATTTGGATAAAAAATTGTTTGAACTATTCCTGACCCTCAGTCAGTGCCTCAGCAGTGTGGAGGAGATGCTGGAGATGCCCAGACTTTACAGGGAGGATGGTTCTGGCCAGCAGGTGCACTACGAG___ACGCTGGCTCTTGAGTTGAAGAAACTTTATTTAGCGCTAAGTGACAAGAAGGGTGATCTTTTGAAAGCCATGACTTGGCCTGGCGAGAACACCAACTTGCTCCTTGAATGTTTTGACAACCTTCAAGTCTGCCTGGAGCACACTCAGGCTGCAGCTGTCTGTAGAAGCAAGTCCCTGAAAGCTGGCCTCGATTACAACCGCAGTTACCAG___AATGAAATAAAGAGATTATATCATCAGCTCATTAAGAGTAAGACATCTTTACAACAGTCTTTGAATGAAATCAGTGGGCAGAGTGTTGCTGAACAGCTTCAG___AAAGCAGATGCATATACAGTGGAGCTGGAGAACGCCGAGAGCCGAGTGGCCAAACTAAGAGATGAAGGGGAGAGGCTTCATTTACCTTATGCTTTACTCCAGGAGGTTTACAAATTAGAG___GATGTACTTGACAGTATGTGGGGAATGCTAAGAGCCAGGTACACAGAACTCAGCAGCCCTTTCGTCACTGAGAGCCAGCAAGATGCTTTGTTGCAAGGCATGGTGGAACTGGTGAAGATTGGGAAGGAAAAGCTTGCTCATGGCCACTTAAAACAAACCAAAAGTAAAGTGGCGTTACAGGCTCAAATAGAAAATCACAAG___GTTTTTTTCCAGAAGCTTGTTGCTGACATGTTGTTGATCCAAGCATACTCTGCCAAAATACTTCCTTCTTTATTGCAAAACAGAGAGACATTTTGGGCAGAACAAGTAACAGAAGTTAAAATACTAGAAGAAAAGTCACGCCAATGTGGTATGAAGCTGCAGAGTTTGTTGCAG___AAATGGGAAGAATTTGATGAAAACTATGCATCTCTTGAAAAGGACCTGGAAATTCTTATATCTACATTGCCCTCTGTGAGTTTGGTGGAAGAAACAGAGGAAAGATTAGTGGAAAGGATTTCATTTTACCAG___CAAATAAAAAGAAACATTGGTGGAAAACACGCCCGGCTTTACCAAACTCTGAACGAAGGCAAACAGTTGGTGGCGTCTGTGAGCTGTCCTGAATTAGAGGGCCAGATCGCAAAACTGGAAGAGCAGTGGTTGTCCCTGAACAAGAAAATTGACCATGAGCTCCACAGGCTGCAAGCTCTTCTCAAGCATCTGCTCAG___TTATAACAGAGATTCGGATCAGTTAACCAAGTGGTTGGAATCTTCCCAGCATACTCTGAATTACTGGAAAGAACAGTCCCTCAATGTGTCTCAGGACTTGGATACAATCAGAAGCAACATCAACAATTTTTTT___GAGTTTTCAAAAGAAGTTGATGAAAAATCCTCCTTGAAGACTGCCGTTATCAGTATCGGGAACCAGCTTCTTCACCTGAAAGAAACTGATACAGCTACACTGAGAGCTTCTTTAGCACAGTTTGAACAAAAATGGACAATGCTCATAACTCAACTTCCAGATATTCAAGAAAAACTTCACCAG___CTTCAAATGGAGAAATTGCCGTCTCGTAAAGCAATCACAGAAATGATTAGCTGGATGAACAATGTGGAGCATCAAACTTCAGATGAAGACTCCGTGCATTCACCAAGTTCTGCATCTCAAGTTAAACATCTTCTTCAGAAGCACAAG___GAGTTTAGAATGGAAATGGACTATAAACAGTGGATAGTTGACTTCGTTAACCAGTCATTACTTCAGCTAAGCACCTGTGATGTAGAAAGCAAGCGCTATGAAAGAACGGAGTTTGCAGAGCACCTGGGGGAGATGAACCGCCAGTGGCACCGTGTACATGGAATGCTGAATAGAAAG___ATACAACATTTAGAACAACTTCTAGAAAGTATCACTGAGAGTGAAAATAAAATACAGATCTTGAACAACTGGCTGGAAGCACAAGAAGAGAGACTGAAAACTTTACAAAAACCTGAAAGTGTGATCTCAGTGCAGAAGCTGCTCCTGGACTGTCAG___GATATAGAAAATCAACTTGCAATTAAATCCAAAGCACTAGATGAGTTGAAACAAAGTTAT)CTGACTTTGGAGAGTGGGGCAGTGCCATTGTTAGAAGATACAGCATCCCGAATTGATGAGTTATTTCAAAAGAGAAGCAGTGTTCTCACTCAG|CATTTTCCACTCAAATCCATACAGAGAATGGGAGAGTCCTTCTCAAAAATTGCAGGATTCAGATATACTGGTTCTAAGTCATTCTACCCTGATGCCCCTGGGTTGAGTTTCATACTTGTTCTCTGCTCCCTTACGTGGTAAGTCTGAATACTCCTTGCATTTACAACATTGTACTATAATTTTTCATTTGTCTGTTCCCTTCTGTCTTTGGATTATGTGCTTTTTTGAGG MASSPELPTEDEQGSWGIDDLHISLQAEQEDTQKKAFTCWINSQLARHTSPSVISDLFTDIKKGHVLLDLLEVLSGQQLPRDKGSNTFQCRINIEHALTFLRNRSIKLINIHVTDIIDGNPSIILGLIWTIILHFHIEKLAQTLSCNYNQPSLDDVSVVDSSPASSPPAKKCSKVQARWQMSARKALLLWAQEQCATYESVNVTDFKSSWRNGMAFLAIIHALRPDLIDMKSVKHRSNKDNLREAFRIAEQELKIPRLLEPEDVDVVDPDEKSIMTYVAQFLQYSKDAPGTGEEAQGKVKDAMGWLTLQKEKLQKLLKDSENDTYFKKYNSLLSFMESFNEEKKSFLDVLSIKRDLDELDKDHLQLREAWDGLDHQINAWKIKLNYALPPPLHQTEAWLQEVEELMDEDLSASQDHSQAVTLIQEKMTLFKSLMDRFEHHSNILLTFENKDENHLPLVPPNKLEEMKRRINNILEKKFILLLEFHYYKCLVLGLVDEVKSKLDIWNIKYGSRESVELLLEDWHKFIEEKEFLARLDTSFQKCGEIYKNLAGECQNINKQYMMVKSDVCMYRKNIYNVKSTLQKVLACWATYVENLRLLRACFEETKKEEIKEVPFETLAQWNLEHATLNEAGNFLVEVSNDVVGSSISKELRRLNKRWRKLVSKTQLEMNLPLMIKKQDQPTFDNSGNILSKEEKATVEFSTDMSVELPENYNQNIKAGEKHEKENEEFTGQLKVAKDVEKLIGQVEIWEAEAKSVLDQDDVDTSMEESLKHLIAKGSMFDELMARSEDMLQMDIQNISSQESFQHVLTTGLQAKIQEAKEKVQINVVKLIAALKNLTDVSPDLDIRLKMEESQKELESYMMRAQQLLGQRESPGELISKHKEALIISNTKSLAKYLKAVEELKNNVTEDIKMSLEEKSRDVCAKWESLHHELSLYVQQLKIDIEKGKLSDNILKLEKQINKEKKLIRRGRTKGLIKEHEACFSEEGCLYQLNHHMEVLRELCEELPSQKSQQEVKRLLKDYEQKIERLLKCASEIHMTLQPTAGGTSKNEGTITTSENRGGDPHSEAPFAKSDNQPSTEKAMEPTMKFSLASVLRPLQEESIMEKDYSASINSLLERYDTYRDILEHHLQNNKFRITSDFSSEEDRSSSCLQAKLTDLQVIKNETDARWKEFEIISLKLENHVNDIKKPFVIKERDTLKERERELQMTLNTRMESLETALRLVLPVEKASLLLCGSDLPLHKMAIQGFHLIDADRIYQHLRNIQDSIAKQIEICNRLEEPGNFVLKELHPFDLHAMQNIILKYKTQFEGMNHRVQRSEDTLKALEDFLASLRTAKLSAEPVTDLSASDTQVAQENTLTVKNKEGEIHLMKDKAKHLDKCLKMLDMSFKDAERGDDTSCENLLDAFSIKLSETHGYGVQEEFTEENKLLEACIFKNNELLKNIQDVQSQISKIGLKDPTVPAVKHRKKSLIRLDKVLDEYEEEKRHLQEMANSLPHFKDGREKTVNQQCQNTVVLWENTKALVTECLEQCGRVLELLKQYQNFKSILTTLIQKEESVISLQASYMGKENLKKRIAEIEIVKEEFNEHLEVVDKINQVCKNLQFYLNKMKTFEEPPFEKEANIIVDRWLDINEKTEDYYENLGRALALWDKLFNLKNVIDEWTEKALQKMELHQLTEEDRERLKEELQVHEQKTSEFSRRVAEIQFLLQSSEIPLELQVMESSILNKMEHVQKCLTGESNCHALSGSTAELREDLDQAKTQIGMTESLLKALSPSDSLEIFTKLEEIQQQILQQKHSMILLENQIGCLTPELSELKKQYESVSDLFNTKKSVLQDHFSKLLNDQCKNFNDWFSNIKVNLKECFESSETKKSVEQKLQKLSDFLTLEGRNSKIKQVDSVLKHVKKHLPKAHVKELISWLVGQEFELEKMESICQARAKELEDSLQQLLRLQDDHRNLRKWLTNQEEKWKGMEEPGEKTELFCQALARKREQFESVAQLNNSLKEYGFTEEEEIIMEATCLMDRYQTLLRQLSEIEEEDKLLPTEDQSFNDLAHDVIHWIKEIKESLMVLNSSEGKMPLEERIQKIKEIILLKPEGDARIETIMKQAESSEAPLVQKTLTDISNQWDNTLHLASTYLSHQEKLLLEGEKYLQSKEDLRLMLIELKKKQEAGFALQHGLQEKKAQLKIYKKFLKKAQDLTSLLKELKSQGNYLLECTKNPSFSEEPWLEIKHLHESLLQQLQDSVQNLDGHVREHDSYQVCVTDLNTTLDNFSKEFVSFSDKPVDQIAVEEKLQKLQELENRLSLQDGTLKKILALAKSVKQNTSSVGQKIIKDDIKSLQCKQKDLENRLASAKQEMECCLNSILKSKRSTEKKGKFTLPGREKQATSDVQESTQESAAVEKLEEDWEINKDSAVEMAMSKQLSLNAQESMKNTEDERKVNELQNQPLELDTMLRNEQLEEIEKLYTQLEAKKAAIKPLEQTECLNKTETGALVLHNIGYSAQHLDNLLQALITLKKNKESQYCVLRDFQEYLAAVESSMKALLTDKESLKVGPLDSVTYLDKIKKFIASIEKEKDSLGNLKIKWENLSNHVTDMDKKLLESQIKQLEHGWEQVEQQIQKKYSQQVVEYDEFTTLMNKVQDTEISLQQQQQHLQLRLKSPEERAGNQSMIALTTDLQATKHGFSVLKGQAELQMKRIWGEKEKKNLEDGINNLKKQWETLEPLHLEAENQIKKCDIRNKMKETILWAKNLLGELNPSIPLLPDDILSQIRKCKVTHDGILARQQSVESLAEEVKDKVPSLTTYEGSDLNNTLEDLRNQYQMLVLKSTQRSQQLEFKLEERSNFFAIIRKFQLMVQESETLIIPRVETAATEAELKHHHVTLEASQKELQEIDSGISTHLQELTNIYEELNVFERLFLEDQLKNLKIRTNRIQRFIQNTCNEVEHKIKFCRQFHEKTSALQEEADSIQRNELLLNQEVNKGVKEEIYNLKDRLTAIKCCILQVLKLKKVFDYIGLNWDFSQLDQLQTQVFEKEKELEEKIKQLDTFEEEHGKYQALLSKMRAIDLQIKKMTEVVLKAPDSSPESRRLNAQILSQRIEKAKCLCDEIIKKLNENKTFDDSFKEKEILQIKLNAEENDKLYKVLQNMVLELSPKELDEKNCQDKLETSLHVLNQIKSQLQQPLLINLEIKHIQNEKDNCEAFQEQVWAEMCSIKAVTAIEKQREENSSEASDVETKLREFEDLQMQLNTSIDLRTNVLNDAYENLTRYKEAVTRAVESITSLEAIIIPYRVDVGNPEESLEMPLRKQEELESTVAHIQDLTEKLGMISSPEAKLQLQYTLQELVSKNSAMKEAFKAQETEAERYLENYKCYRKMEEDIYTNLSKMETVLGQSMSSLPLSYREALERLEQSKALVSNLISTKEELMKLRQILRLLRLRCTENDGICLLKIVSALWEKWLSLLEAAKEWEMWCEELKQEWKFVSEEIEREAIILDNLQEELPEISKTKEAATTEELSELLDCLCQYGENVEKQQLLLTLLLQRIRSIQNVPESSGAVETVPAFQEITSMKERCNKLLQKVQKNKELVQTEIQERHSFTKEIIALKNFFQQTTTSFQNMAFQDHPEKSEQFEELQSILKKGKLTFENIMEKLRIKYSEMYTIVPAEIESQVEECRKALEDIDEKISNEVLKSSPSYAMRRKIEEINNGLHNVEKMLQQKSKNIEKAQEIQKKMWDELDLWHSKLNELDSEVQDIVEQDPGQAQEWMDNLMIPFQQYQQVSQRAECRTSQLNKATVKMEEYSDLLKSTEAWIENTSHLLANPADYDSLRTLSHHASTVQMALEDSEQKHNLLHSIFMDLEDLSIIFETDELTQSIQELSNQVTALQQKIMESLPQIQRMADDVVAIESEVKSMEKRVSKIKTILLSKEIFDFSPEEHLKHGEVILENIRPMKKTIAEIVSYQVELRLPQTGMKPLPVFQRTNQLLQDIKLLENVTQEQNELLKVVIKQTNEWDEEIENLKQILNNYSAQFSLEHMSPDQADKLPQLQGEIERMEKQILSLNQRKEDLLVDLKATVLNLHQHLKQEQEGVERDRLPAVTSEEGGVAERDASERKLNRRGSMSYLAAVEEEVEESSVKSDNGDEKAEPSPQSWSSLWKHDKDMEEDRASSSSGTIVQEAYGKISTSDNSMAQILTPDSLNTEQGPECSLRPNQTEEGTTPPIEADTLDSSDAQGGLEPRVEKTRPEPTEVLHACKTQVAELELWLQQANVAVEPETLNADMQQVLEQQLVGCQAMLTEIEHKVAFLLETCKDQGLGDNGATQHEAEALSLKLKTVKCNLEKVQMMLQEKHSEDQHPTILKKSSEPEHQEALQPVNLSELESIVTERPQFSRQKDFQQQQVLELKPMEQKDFIKFIEFNAKKMWPQYCQHDNDTTQESSASNQASSPENDVPDSILSPQGQNGDKWQYLHHELSSKIKLPLPQLVEPQVSTNMGILPSVTMYNFRYPTTEELKTYTTQLEDLRQEASNLQTQENMTEEAYINLDKKLFELFLTLSQCLSSVEEMLEMPRLYREDGSGQQVHYETLALELKKLYLALSDKKGDLLKAMTWPGENTNLLLECFDNLQVCLEHTQAAAVCRSKSLKAGLDYNRSYQNEIKRLYHQLIKSKTSLQQSLNEISGQSVAEQLQKADAYTVELENAESRVAKLRDEGERLHLPYALLQEVYKLEDVLDSMWGMLRARYTELSSPFVTESQQDALLQGMVELVKIGKEKLAHGHLKQTKSKVALQAQIENHKVFFQKLVADMLLIQAYSAKILPSLLQNRETFWAEQVTEVKILEEKSRQCGMKLQSLLQKWEEFDENYASLEKDLEILISTLPSVSLVEETEERLVERISFYQQIKRNIGGKHARLYQTLNEGKQLVASVSCPELEGQIAKLEEQWLSLNKKIDHELHRLQALLKHLLSYNRDSDQLTKWLESSQHTLNYWKEQSLNVSQDLDTIRSNINNFFEFSKEVDEKSSLKTAVISIGNQLLHLKETDTATLRASLAQFEQKWTMLITQLPDIQEKLHQLQMEKLPSRKAITEMISWMNNVEHQTSDEDSVHSPSSASQVKHLLQKHKEFRMEMDYKQWIVDFVNQSLLQLSTCDVESKRYERTEFAEHLGEMNRQWHRVHGMLNRKIQHLEQLLESITESENKIQILNNWLEAQEERLKTLQKPESVISVQKLLLDCQDIENQLAIKSKALDELKQSYLTLESGAVPLLEDTASRIDELFQKRSSVLTQ|hfplksiqrmgesfskiagfrytgsksfypdapglsfilvlcsltw* 11BR040 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 15 12 0 75 45 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream low_entropy(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACA)GGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR040 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 7 12 1 23 31 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismatches(2) CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGG(ACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR040 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 12 4 0 129 57 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(2),mismatches(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCA)GAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACtTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGcTGGAAGGCTCgTGATGAAATGGAAgAGCAGCAGCGTGtGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPlFAQPGTFEFEYASRWKArDEMEeQQRvQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR040 ENSG00000108448.21 ENSG00000171931.13 +/+ +/+ chr17:18727758 chr17:18747941 CDS/splice-site CDS/splice-site deletion/read-through 3 9 0 27 18 high out-of-frame . |WD_domain__G-beta_repeat(100%) . . ENSG00000108448.21 ENSG00000171931.13 ENST00000395671.9 ENST00000308799.8 downstream upstream . ^(GTGCCTCCCGGCTGGTTTCTGAGATCAGCCACAGAAGTTAAACTTCTTTCCAGGGAAGAAGGGCGGGGATGTCAGGGCTGGAGAGTGCCCGTGTCCTTCTGTGTGCATTGGGCTCCTTCCTCCTTAATTCTCTGCTTTCCACTTTTAGGCTGAACTCCAGTGCACCCAGTTAGACTTGGAGCGGAAACTCAAGTTGAATGAAAATGCCATCTCCAGGCTCCAGGCTAACCAAAAGTCTGTTCTG___GTGTCGGTGT)CAGAGGTCAAAGCAGTGGCTGAAATGCAGTTTGGGGAACTCCTTGCTGCTGTGAGGAAGGCCCAGGCCAATGTGATGCTCTTCTTAGAGGAGAAGGAGCAAGCTGCGCTGAGCCAGGCCAACGGTATCAAGGCCCACCTGGAGTACAGGAGTGCCGAGATGGAGAAGAGTAAGCAGGAGCTGGAGACGATGGCGGCCATCAGCAACACTGTCCAGTTCTTGGAG|GGCTCAATCAAGACATCACAGATGTGTGTTTTTCCCCTGAGAAAGACCACAGCTCCAAGTCTGCGACCTCACAAGTCTATTGGACAGCCAAAACTCAGCACACATCCCTTCCTTTGTCCAAAGCCCCAGAAAATGAACACTTGCTTGGGGCAGCATCTAACCCTG___AGGAACCATGGAGGAATTCACTCCGGTGTATATCCGAAATGAATAGGCTGTTTTCTGGAAAAGGAGACATAACCAAGCCAGGGTACGcTCCCTGCAATCTATTGGTTGACCTGGATGACATCAGAGACCTGTCTTCTGGGTTCAGCAAATACCG(AGACTTCATCCGTTACCTGCCCATCCACCTCTCCAAGTACATTCTAAGTATGCTGGGGTGTATGAGGGGATTTCCCAGACACCTCCCCTCTTGGCCCAGTTCTGGGGTTTCTGGGTCCATCTTTTTTTTTCCAGGAATGCTGGATAGACACACCCTGAACAAGTGCGCCTCTGTGAGCCAGCACTGGGCCGCCATGGCTCAACAGGTCAAGATGGACTTGTCAGCGCACGGCTTCATTCAGAACCAGATTACCTTCTTGCAG___GGGTCCTACACAAGAGGAATTGATCCTAATTATGCCAATAAGGTTTCTATCCCAGTTCCTAAAATGGTAGATGACGGGAAGAGCATGCGTGTGAAACATCCGAAGTGGAAGCTGAGAACGAAG___AATGAGTACAACCTGTGGACTGCATACCAGAACGAGGAAACGCAGCAGGTCCTGATAGAGGAGAGAAATGTTTTCTGTGGGACCTACAATGTTCGCATTCTCTCTGACAC___GTGGGATCAAAACCGAGTCATCCACTATTCCGGGGGAGATCTGATAGCTGTGTCATCTAATCGAAAGATCCATCTTCTGGACATCATACAAGTGAAAGCGATACCCGTTGAATTCCGAGGCCATGCTGGGAGTGTCCGGGCCCTCTTCCTGTGTGAGGAGGAAAACTTTCTCCTAAGCGGGAGCTATGACCTAAGTATCAG___ATACTGGGATCTGAAAAGTGGGGTTTGCACACGAATCTTCGGTGGTCACCAGGGGACTATCACTTGCATGGACTTGTGTAAGAACAGGCTCGTATCTGGAGGAAGAGATTGCCAGGTAAAAG___TATGGGATGTAGACACAGGGAAGTGCCTGAAGACGTTTAGACACAAAGACCCCATCTTGGCCACCAGGATCAATGATACCTACATTGTGAGCAGCTGTGAGCGAGGGCTGGTGAAAGTGTGGCACATTGCCATGGCCCAGTTGGTAAAG___ACTCTCAGTGGCCATGAGGGAGCCGTGAAATGCCTGTTCTTTGACCAGTGGCATCTCCTCTCAGGAAGTACTGATGGCCTGGTCATGGCCTGGAGCATGGTGGGGAAGTACGAGCGCTGCCTGATGGCCTTCAAGCATCCCAA___GGAGGTGCTCGACGTGTCCCTTCTCTTCCTCCGGGTCATCAGCGCCTGTGCAGATGGCAAGATCCGAATTTACAATTTCCTCAACGGGAACTGTATGAAGGTGTTAAAAGCCAATGGCAGAGGTGATCCTGTGCTGTCCTTCTTTATTCAGGGCAACAG___GATGGTGGTCAACACAGAGAGCAATGTTCTCATGTTCCAGTTTGAGCACATAAAGTGGCAGTATGCCGTGGAAAAAACGAAACAAAAGAAGAATAAGGAGAAAGAGGAGGAAAAAGAAGAAAATAGTCTCATGGAAATTCTCTCTAAGTGTAATATTCAGGTTCACAGCCCAAGAGAGTCTGTATCCAGTAAACAAACTGTGATCCAAGAGCTCCTACCAGGCAAACCTCCCAAGTCCCGAGTACTCCTGAAGCCGGCCAAGTTCTCTTCAG___ATGATGTGGAGAAAGCACAAAAACAAGGACAATTGGAAACTCCTGGAAAACTGCCCAGTCACCCAAAGAAAAAGTCTTGGAAAATCCCTATGTCACCTGACCAATTCCTCCTGACTGTTAGCGCCCTGCAGCACGCCCATAATTCCGGGGAATTTGCCTATCCCTGTAGGCCCCAAACAGAAATTACTGATGTCTGGGGACCTTCAATTTCATACCCAAGGAAGGTCTTGAATTTCAAAGGAAAATCAATCCAACGTGCAGTTGATCGGTTGAGATTGAGCAATCCTCCTATAGATGTGAAACGAACCAGTATTCCCCTTGAAATCCAGAAACTGCAGCCCAACTTGAAGATCTCTTTGCACAGTCCTAGAGTCCAGTCCACCATACCCCAGCCCATGATTATCCGCTCCAGGTTCTCTGGCAGCTTAAAGGGTGGAGACCAAGTGACCAGTTCAATTGAAAGGGCTGTGTGCAGTACGGGTCCCCTGACCAGTATGCAGGTCATTAAACCAAACCGCATGCTAGCTCCACAAGTGGGCACAGCCACCCTGTCTCTTAAGAAAGAACGGCCTCGCATCTATACAGCCCTTGATCCTTTTAGAGTGAACACTGAGTTCGTGCTGTTGACCGTGAAGGAGGAGAAGGAGCACCAGGAAGCCAAGATGAAGGAATATCAGGCCAGGGAGTCCACTGGAGTGGTTGATCCAGGAAAAGTCAGCAAAGCTGCATGGATCAGGAAGATCAAAGGCCTGCCTATTGATAATTTCACGAAGCAAGGGAAAACAGCGGCCCCTGAACTTGGACAAAATGTATTTATCTAAACCAGCCTTGGGAAATTACAATGTTTTACAATAAACAGAAAGCCAAGCGGA)$ MQFGELLAAVRKAQANVMLFLEEKEQAALSQANGIKAHLEYRSAEMEKSKQELETMAAISNTVQFLE|gsiktsqmcvfplrkttapslrphksigqpklsthpflcpkpqkmntclgqhltlrnhggihsgvypk* 11BR040 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 9 0 18 107 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream inconsistently_clipped(1),mismatches(2) GGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCC(GTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR040 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 3 2 0 483 20 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream mismatches(1) ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCAC)TGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG(___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 11BR040 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51877282 chr19:51855967 CDS/splice-site intergenic deletion/read-through 2 1 0 75 47 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGG)CAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAGACCATCAGCCTTCAACCACCACCCTTGTATCAGAGGAGACAAATAAGCTTGG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|dlhyrwktaasepq* 11BR040 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 2 1 0 282 20 medium . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000560197.5 upstream downstream . GGCTAAGATGCTTACATCTCTTGTCACACTCCTGAATGTGGCAGGTCCGTGTCTGGACCGAGGAGCCCTCACATCGGTTGTTGAGGCTATCGCAGGAGCGGCCGCGCTGCTGAATTCCATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCT(GGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 11BR040 ENSG00000160633.13 ENSG00000197798.9 +/+ +/+ chr19:5626489 chr11:126256731 CDS/splice-site CDS translocation 0 2 0 109 54 medium out-of-frame . SAP_domain(100%)| . . ENSG00000160633.13 ENSG00000197798.9 ENST00000588852.2 ENST00000627851.2 downstream upstream . ^(AGAAGCGAGGCGCGCTGGGGCGACTGGAGCGGTTCCCTCGCAGGCGGCGCCATTTTGTGCTAGGAGCCTGATAAAACCGGCCCGGTTCTGTGGAAAGTGGGCGGCGGAGCCAGGGTCCCTGGAATGGCGGAGACTCTGTCAGGCCTAGGTGATTCTGGAGCGGCGGGCGCGGCGGCTCTGAGCTCCGCCTCGTCAGAGACCGGGACGCGGCGCCTCAGCGACCTGCGAGTGATCGATCTGCGGGCGGAGCTGAGGAAACGGAATGTGGACTCGAGCGGCAACAAGAGCGTTTTGATGGAGCG)GCTGAAGAAG___GCAATTGAAGATGAAGGTGGTAATCCTGACGAAATTGAAATTACCTCCGAGGGAAACAAGAAAACATCAAAGAGGTCTAGCAAAG|AAAGCTTCGAGAAAACATGCTGGACAAGGGGATTAAAGTCATCTCCTATGGAGATGACTATGCCGATCTTCCAGAATATTTCAAGCGACTGACATGTGAGATCTCCACAAGGGGTACATCAG___CAGGGATGGTGAGAGAAGGT(CAGCTAAATGGCTCATCTGCAGCACACAGTGAAATAAGAG___GCTGTAGTACATGAGCGAGCTAGAGAAATCACCACCGTTTAGACCAAGCTGTAAGGCCCTACTACAGACAGTGTTTAACAAGTAAACTTACAAGAACCCAACACAATTCCCAGAAAGTAACAATAGCCAGAGGTTGAAGGGCGGGGTAGAAGAGGGGGGAATGTTGCAGCGTAATCCTTCATACCACCTGGTTCTTGATATTCTGCCGCCTGTTCAAGTTCAAGAATAAAAGCGACAGCAGGACCCAAATGCAGCTCCCAACCCACTCCCCAGGCTAGACATGCTTGTGTCCACACAGCACACCAATGTGATACTTCCACTGACCGGCTGCAGCTCTGCATGAAGGACTCGGGGTCTGGATGCCATGGAATCACTGTGGCTCTTGTTGCAGTTTTGTACTCTATACTTGGTTTTTCAATTAAGCTTAATGGCTTTTTTAAAACATGACTTGAAGCTCTAGTTTTCTAGATCTTTTACAGTGTACAGTATTTTACATAACTAAGCTGTATTAAAAGCTTGTTCATTTACTTGCCAGGACCCTGGCTCTACTTTTAGAGTCATTGTAAGAAACTCTAACTTGCATCAAGGTACTAATAAGCTTAATTTTAATAACCCAAAGTTTAAAGGTTCCGATCTTTCTCCTTGGGGTGGAGTGATCTCATTCTCAGGACAACCGTTTACTTACCTGATTCCTCGGAGCATTATCAACTTCTGCTCTGTTGTCCTGACCATACATATGTCCTAGAACTACAGTTAAGTGTGTTGTGGAATTTTAGTTTTGAATCCTGTATAAAAGAACTCCAAGACCTAAAAGGCAATTTATTTATGAAATTTATTTTCTTATATAAATTACTTATTTCTCTGG)$ MAETLSGLGDSGAAGAAALSSASSETGTRRLSDLRVIDLRAELRKRNVDSSGNKSVLMERLKKAIEDEGGNPDEIEITSEGNKKTSKRSSK|esfektcwtrglksspmemtmpifqnissd* 11BR042 ENSG00000239148.1(13058),ENSG00000196139.14(30912) ENSG00000187134.14 ./- +/+ chr10:5017900 chr10:4965914 intergenic CDS/splice-site inversion 67 55 0 942 1929 high . . |Aldo/keto_reductase_family(100%) . . . ENSG00000187134.14 . ENST00000380872.9 upstream upstream duplicates(40),mismatches(1) ATTCTCATGAGATCTGGTTGTTTGAAAGTGTGTAGCACCTCCACCTTCTCTCTCTCTCTCCCTCTCCCTCTCCTGCCAGCCAAGTGAAGACATGCTTACTTCCCCTTCACCTTCCTTCATGATG|GTTCCTAAAAGTAAAGCTTTAGAGGCCACCAAATTGGCAATTGAAGCTGGCTTCCGCCATATTGATTCTGCTCATTTATACAATAATGAGGAGCAGGTTGGACTGGCCATCCGAAGCAAGATTGCAGATGGCAGTGTGAAGAGAGAAGACATATTCTACACTTCAAAG___CTTTGGTGCAATTCCCATCGACCAGAGTTGGTCCGACCAGCCTTGGAAAGGTCACTGAAAAATCTTCAATTGGATTATGTTGACCTCTACCTTATTCATTTTCCAGTGTCTGTAAAG___CCA(GGTGAGGAAGTGATCCCAAAAGATGAAAATGGAAAAATACTATTTGACACAGTGGATCTCTGTGCCACATGGGAG___GCCGTGGAGAAGTGTAAAGATGCAGGATTGGCCAAGTCCATCGGGGTGTCCAACTTCAACCGCAGGCAGCTGGAGATGATCCTCAACAAGCCAGGGCTCAAGTACAAGCCTGTCTGCAACCAG___GTGGAATGTCATCCTTACTTCAACCAGAGAAAACTGCTGGATTTCTGCAAGTCAAAAGACATTGTTCTGGTTGCCTATAGTGCTCTGGGATCCCACCGAGAAGAACCATG___GGTGGACCCGAACTCCCCGGTGCTCTTGGAGGACCCAGTCCTTTGTGCCTTGGCAAAAAAGCACAAGCGAACCCCAGCCCTGATTGCCCTGCGCTACCAGCTACAGCGTGGGGTTGTGGTCCTGGCCAAGAGCTACAATGAGCAGCGCATCAGACAGAACGTGCAG___GTGTTTGAATTCCAGTTGACTTCAGAGGAGATGAAAGCCATAGATGGCCTAAACAGAAATGTGCGATATTTGACCCTTGATAT___TTTTGCTGGCCCCCCTAATTATCCATTTTCTGATGAATATTAACATGGAGGGCATTGCATGAGGTCTGCCAGAAGGCCCTGCGTGTGGATGGTGACACAGAGGATGGCTCTATGCTGGTGACTGGACACATCGCCTCTGGTTAAATCTCTCCTGCTTGGTGATTTCAGCAAGCTACAGCAAAGCCCATTGGCCAGAAAGGAAAGACAATAATTTTGTTTTTTCATTTTGAAAAAATTAAATGCTCTCTCCTAAAGATTCTTCACCTACTTTGGTCTCCATAACTTCTATGTTTTCTTTCCTTCTGACACACTAGTGCCCCTAAATTGTGATTTGCCTATACGTTTAGGGCCGGGGTTGGAAGATGTTAACAACCATTTAAGATTCATTTCTGCAGTGGGAGTGGGTGGAGTTTCACCCTCTGGGAAAGGGGCAGGTGACAGGTATTTATCAGTCAGTGCCTCTCTAGCTCTTGTAGGAAGAAGCACACGCAGGATGGAGTCTAGAGGATGAGCGATATTGACTAGCAATTCATGGGCTCCCTCCAGCAGTGCGAGGGTCAGAGTTTCTGGAGCCTTGGGAGGAGGCATCCCTGTGAGGGGGGGTTAGGGAGATGGGAGGGCACCAGGAAAAGTGATTAGAAGTCAGGTATGGGAAGGCTAAATAGGACAGAGTCGAGTACATCTCTGCTTGGAAAAACATATCAACACCCTTTTTTTTGAACATTATATCTTGCTCATAAAAGAAAACTTTCCACATTGTTTTAACAAACCCCACAGCTGAGAGTCAGGCCTGAATCTTTGATGTGTGCCCATTCACAACGTTGACCCTATTGGTTTGTGGTGGGGCAGGGCATCAAAGACATCATTGACTAATCACATTCCCCTGAATAGCTCATATTTAGAAAATATTCTTAGATTCTAAAAATGTACTATTAATTTGTGATATTCAGTCTTTTAAATATTTTATACATTAAACAGGCATAGTTACAAATATAAAACAAAAATATCCCAAAGCCATTATGCATGGCACTCAAGATTAAAATGGGAAATAATACATCTAATAAATCAAATGTTCCAAGACTTCAAAGGTCTTTTGGAAACAGGCTATGTAAAACAGCACACTGGTTTCAAACTTTGGTAAATTTTAAGAACAACTCTTACAAAGGCATTTAATTCTTATACATAATTTTCAGGGGACCTAAGTTAATCAGCTAATCATGAAGACATGATTTTCATTTTAGAAAACACTTTTGAAAACTTGGGATAATCTCATGCCTTAATGATCAAAGCATTATGAGAAGGACAGTGGTTTTTAACCTGGGCATATGTTCTAACACATTTACTCTCCACTATTCGTACTCTGGTAGCCATGTTAACCCCATCAGAGATTCCTTCTCAAGCCATGTCTCAGAGCTGAGAGGCATCCCAGCAAGTTTTGCAGCTCACAGTTTTTTCCGTAAATTACTTATTCTATAAAATTGGAGTAGGCCATAAACTTTGGAGGGCCCTAGACCAATTTTTTGGATTATTTTTCGTCTTCTATCATTCCGCTGATCTTAGATATTCTCTGCATTAAATATTAAATATCACTTCTAGGCTGAAAAATCCCCCTAAAAATATTTCTAGCTCAGATTTTTCCTCCAAATTCTGCAATAGAAGATCACAATGTGAACTCTGCATCTCCATGTTAAAGTCTAATGGACATTCACACTTAGCATGTCTCAAAGAAATCTCATGTAAACCATGGCCATCCTGTTCTACCTTAACTTTCTGAGTCTATGGAATGATAATTTCACATCTCATAAACTTGACTGATGTAAGTGTCAAGAAAAGATTGACATTTTGTTAAAAGTTAGTAGTGAAGTGTGTAACGCTTAAGCAAACTTTCATATTTCAAATCTCTTTAGCAAGTGTAACTCTTTTTTCAAGATGTGAAATAATCATTAGGTCAGTCATTTGTAAATAGTACATCTGCTATGGACTTTTTCCAGTTCTTCACCATCCATTTTTATAAAACTCTTATTGTTAAAAAAAAAGTTACTCAGAATTTCATAAAGCCAAACACCTGATTTCAGGAACACTTGAGATGTAAGAAAATTTTATAGGGACCTCCAATCACTAATTTTCCTATTTTTTCTCTCAAAGAAATGCTGAAGGGAGGAATTCAGGTTGAATGAAAGGAAATAGTAACTTACAGCCATATAGAGTTATAAAGACTTCTTGTAAATGTGAACATATGGTAAAATATAAAAACATGTATTTTTGAAATTTTGGATTCTACTCATTATTTTACTTCAATTTAAGATATAAATGTATAGAAATAAGTATAATTCTAAGCTAATACGTATGCAATGTAGGAAGCTGTAATTACTGACCAAAACTATGTGAAGTGGAGAAAACCTGGGGAAGTGGATGGTTTTAGATGAAACTGAAGTTAAATTCATATTGATTTAAAGTAAATTGTTATAACTTTATAAAGTTTTTCATCATCACCACAGCAATCACAAAGAGAATAATTATGAATATACGCAAGAGGAAATGAGAAGGGAATCCAAATGTCATTAAAAAAAAATCACGCCACCTCACAAAATGGTAACAGTGGATATAAAGGATAGAAAGCTATAAACCTGGTAGGAAAACATTGAAAATGGCACAAGTGACTCCTTCCCTGTCACCAATGACAGTCATGTGTTGCATAATGCCTGGGCTATCTTCTGAGAATGGCTTTGTTAGGCAACTGTGTCATGGTGGGGACATGATAGCATTAGAGAGAATTCTCTCAAACACTGTCATGGCCTTATCAACTATGCTTCTGTAATATTCTGAATCCTTCGCTGCCTTTCCAACAGTGTTTACAACGGTTTCCTAAGAAATGAAATCCATTTCACCAAACCACTTTTCTTGCTCATCCATAAGAAACACTTCTCCTTTGTTAAAATTACATCATGAGATTGCAAGCATTCAGTAACTTGCAAGCTCCAATTTGAATTCTAGTTGTCTTGCTATTTCCACCACATCTGCAATTACTTTCTCCACTGAAATCTTGCATTCCTCCAAGTCATCCAGGAGGGTTGAATTCACTTCTTTCAAACTCCTGTTCAAGTAAATGTTTTGCCCTCCTGTCACGAATCATGAATGTTTTTAATGGCATCTAGAATAGTAAATCTTTTTCAGAAGATTTTCAATTTTCTTTTCCCAGGTTCTTCAGACAAGTCACCATGGTAGCTGTAGACTTATGAAATGTATTTCCTGAACCATAAAACAAGAACATCAAAATTACTCTATGATCCATGGGAAACAGAATGCATGTTGTGTTAGCAGGCATGGAAAGAACAGTAATCTCTTTCAACCTCTGTAAGAGAGTTCTTGGTTGATTAGGTACCTTGTCGATAGGCAGTTCTAATTTCAAAGAACTTTTTCTTTTGCTGAGCAGTAAGTCTTAACAGTGGGCTTAAAATATTCAGTAAACCATTATTTAAGGAGATGTGGCTTAAATATCTAGGCTTTCTTGCTTTATTTATAGAACACTTACAGAGTAGATATAGATTAAATCTTAAGGACCCTAGGATTGTTAGAATAGTAAATGAACATCATATGTTGTAATATAGTTAGCCAGGGAGGGGAAAGATCTCTACAAGAAATAATTTTAAAAACTACTCAAAGAAATCAGAGATATCACAAAATGACAAAACAAGTACAGGGGCAGCAAAAGGTAACAGATGTCAACTATGAGATCTCATCAAGAACTAAGAAAATGGAGAAAAGTACCAGATGGCAGATGGGAGGCAGTGTGAGCATGCCTCTCCCACTTGGAGATTAGTGTGTAGAGATTTACATTGTGAATTTCTTTTCAAGAACCAATGCAGAGACTTAACAGATATATGAAAAAATTTCACATACACTCTGAAGAAGTCTCAGGCACAATCCTACTCCATGAAATAAGAAAAAACCATCACATCCCCAGATTCTGAGGGGAGAGAGTTCACTCCAGAGCATACATCCCCACTGGGGATCTGGAAATTCAGGCCACAAGAGAAGGCTTTGATCCTGTGCGGACAAGTGCCTTGAGCAGAATCCACAGGGGAGAGCTGGAAGTGCATGGCAGATATGAGCACAGAAGCTGGGTGTCCAGCCTTGTGGGCAGACCGGGAGGGATGTGGCCTGAAAGCCATGGTTATTATCTCAGCGTGTAAGCTGATGATCTGAGGCTGGTCAGAGTTCTGTGCGCAGACTGCCTGGATGTAAACCTGGCACTGTTAGCAGAGCACTGCATGAATGAAAGGAATGAAAATAGCCTTGCCAACTGCATAGGTGCTGGGTGAGGCTCACTGTGGGGGGCGCACGGCAAGCTATTCAACATTACGTACAGGCATTTGAGGTCGGGGCATGGAAAAATACTGAGGCAGTGTGTGTATGTTATTTGTGCTGAGAATGAAACTCCTTGACCTTGAAAACAGGACAGGGAGTGGTGTGTGTGCTGTGATAAGGAATGCTGAAAACGGTCTCCTGAGAATGCGGTTTGAGTGCTTTTACAAGGCCACAGGTGTCTCACGACCTGACCTCATAAAGCCATCTAGTGGATGTTTGTGGCTTAACAAGCCCCTTCAATAAGTACTTGGCGGAGGGATGCTGGGGGGACCTTCTTAGAAGAGCTGCGCCCCACCCCCCTCCCTGGACAGCCCAGCTACAATTGTCTGAGAACTCACTGCAAGCTGTAAGCGGCCCACTACTTCCCACTCCCTTTTTTGAACTCTTCTGTGCAGCAGAGGCAATTAAACTCTCCTCTGGAACATTACCCCAGCAGCCTGAGAACCACCCCTTGGCGCTCACAGGGGCTGCAGCCTGCCTTATCCAAGGACAGTTAGAGTGCAGACCCACCTAACCCTGGACCCACTGGTGGTACCCATCCACCCATCCTGGTAGCTTAACACAAAGATACACTTTTAGGAGCTTCATAGCCCCTCTTCCCCCATTGCCTGAGAAACCACTTTCCCTGGGCAACTTAGGGCAAGCTCAAATCCCACTGCTACCACCACAGCTGGTGCTCTTTTGCAAGTGCCACCTCCTAGCTGGAGACCAACCAGCACAGTCCACACAGCACCTCAAGGAAGAATAAATAGAACTGTTCCCAGGAAGGAGAAAATGCCTGCATGAGCTCAGCTGTTACCACTGCGTACCACACCCTGACCAGTCAGAGGTCTTGAGTCGGTCCGCATGACAAGTTCACCGCTCGCATAACCAGCATTCAAGAAAGCCAGCACACTAAGCCTATCTACAGCCAGGGAGTCTCAGAGTCTACGTCACTCCCCTGCCACCTCAATCAGAGCTGGTGCTGGTATCCACTGCTGGGAGACTTGTGCTGAGGTGAAGCCTGGGCTGGATGGCTGGAGGATGAAGAACTGCACGGAGGAGATGGAGGCACCCAGACAGATGCCCCATGGACATCCTGAAGCAGAGCTGCCTCACTGCCCTGCACACACATGAGAGCGCAGCCAGGAACAGAAGGACTGGGCAACATTCAGGCGGAGCCCAGGCCAATTTTCTAAACATGGAATATGAGTTAAATAAATGGCTTCGTATTAAA)$ . 11BR042 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 13 9 0 90 83 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGA)GTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR042 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 6 11 0 20 28 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(2) CATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTAC(AGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR042 ENSG00000149548.15 ENSG00000134955.12 +/+ +/+ chr11:125040179 chr11:125076757 intron CDS/splice-site deletion/read-through 4 11 0 42 41 high . . |Major_Facilitator_Superfamily(100%) . . ENSG00000149548.15 ENSG00000134955.12 . ENST00000403796.7 downstream upstream duplicates(1) CATTTGTTGTTGTTGTTTGTTTTTTTGTTTTTGTTTTTTTTTTT[t]CCGAGACAGCCTCACTCTGTCGCCCAGGCCAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGCCTCAGCCTACCGAATATCTGGGATTACAG|GTTCCGAGGCCTCATCCTGCTGCTGACCTTCCTAATTTACGCCTGCTATCACATGTCCAGGAAGCCTATCAGTATCGTCAAG___AGCCGTCTGCACCAGAACTGCTC?GAGCAGATCAAACCCATCAATGATACTCACAGTCTCAATGACACCATGTGGTGCAGCTGGGCCCCATTTG___ACAAGGACAACTATAAGGAGTTACTAGGGGGC(GTGGACAACGCCTTCCTCATCGCCTATGCCATCGGCATGTTCATCAG___TGGGGTTTTTGGGGAGCGGCTTCCGCTCCGTTACTACCTCTCAGCTGGAATGCTGCTCAGTGGCCTTTTCACCTCGCTCTTTGGCCTGGGATATTTCTGGAACATCCACGAGCTCTGGTACTTTGTGGTCATCCAG___GTCTGTAATGGACTCGTCCAGACCACAGGCTGGCCCTCTGTGGTGACCTGTGTTGGCAACTGGTTCGGGAAGGGGAA___GCGGGGGTTCATCATGGGCATCTGGAATTCCCACACATCTGTGGGCAACATCCTGGGCTCCCTGATCGCCGGCATCTGGGTGAACGGGCAGTGGGGCCTGTCGTTCATCGTGCCTGGCATCATTACTGCCGTCATGGGCGTCATCACCTTCCTCTTCCTCATCGAAC___ACCCAGAAGATGTGGACTGCGCCCCTCCTCAGCACCAC___GGTGAGCCAGCTGAGAACCAGGACAACCCTGAGGACCCTGGGAACAGTCCCTGCTCTATCAGGGAGAGCGGCCTTGAGACTGTGGCCAAATGCTCCAAGGGGCCATGCGAAGAGCCTGCTGCCATCAGCTTCTTTGGGGCGCTCCGGATCCCA___GGCGTGGTCGAGTTCTCTCTGTGTCTGCTGTTTGCCAAGCTGGTCAGTTACACCTTCCTCTACTGGCTGCCCCTCTACATCGCCAATGTGG___CTCACTTTAGTGCCAAGGAGGCTGGGGACCTGTCTACACTCTTCGATGTTGGTGGCATCATAG___GCGGCATCGTGGCAGGGCTCGTCTCTGACTACACCAATGGCAGGGCCACCACTTGCTGTGTCATGCTCATCTTGGCTGCCCCCATG___ATGTTCCTGTACAACTACATTGGCCAGGACGGGATTGCCAGCTCCATAG___TGATGCTGATCATCTGTGGGGGCCTGGTCAATGGCCCATACGCGCTCATCACCACTGCTGTCTCTGCTGATCTG___GGGACTCACAAGAGCCTGAAGGGCAACGCCAAAGCCCTGTCCACGGTCACGGCCATCATTGACGGCACCGGCTCCATAG___GTGCGGCTCTGGGGCCTCTGCTGGCTGGGCTCATCTCCCCCACGGGCTGGAACAATGTCTTCTACATGCTCATCTCTGCCGACGTCCTAGCCTGCTTG___CTCCTTTGCCGGTTAGTATACAAAGAGATCTTGGCCTGGAAGGTGTCCCTGAGCAGAGGCAGCGG___GTATAAAGAAATATGAGGCCCCAATTGGAACAGCAGCATGGAGGGTCCCAGTTGGGTCCCCAACGTGCTCCCCATGGGCAAGACAATGGAAACTTCCACAAGCAGGGAAGGCAAACCCTCTTTATTGAACATTAGCCAGCCCAGCCCAGACCCCAGGGCTGCCTAAGGACACAGAGATTCTCCATGGGAAGGGGACTGCCAAGCATGAGGAAATAGAAGATTCAGGGGCCTGAGCTCTGGAAGCTGCAAGCAAAAGGGATGGGACTAGGGCTGAGTTGTGTCTCCATTTTGATAAGGAAAGGATATGCTCAGACTCTTGCTTGTTCAGATTCCAAGACAGAAGGCTTCACAAGGCCAACGCCTGGAAAATGGGCATCTCTCCTTCCCATGTTAAGCTTTAACCTCTGTAATCTGCCTGTATCTATAGGTGGGCATCTCACTCCACCAAAGGAGCCCAGCCTCTCTTTGTCCCTCTATCCATGCAACAGTCTTCTCTGTGCATTTCCCCAAGCTGGGCCCTCTTCTACTCTCCATTTAGGCCTGTTGATAACTCCATTACCCGCCCATCACTGCTGTTCCTCCAGGGCCAGCACTCGGGCGAGGCAGGGGAGCTGCCTTCGGTACATAATTTGAAGGGGCACTCCCTCTTGGGCACATGCCGGCCCTGAGTGCCTCCCTTGCCTCACTCTGATCCTGGCCCCATAATGTCCTCAGTGGAAGGTGATGGGGGCCGGTGCTGTGGGGAGAGTAGAAAGAGGGGTTGGCATGACTAAAAATACCAGTATGTGTATTAAGTATTTTGAGAATGAAATGCCAAGGAGTGCCTACTATATGCCAGCTCTAGGAATGGAGTAGACAGTGGACACAAGAAGGACTTACGCCCTGAGCACAGGTGCCAATGGTGACAAGACTGGCAAGACGTGAGGGCATGAATGGTTCATTCAGGCAGCTGCTGCAGATGTGGTCACCTGGTGCCATCTGCTGCTCCCTTTTCCACTTTTCTATGTCCTCCTTCCACCCCAAGTCCCGGATCACTCGCTGTTTTCTGGCTAGCTCTTGGCATCTCCATCTGAGCCTAAAGTTGCCCACTGGCACCAATAGATTCTGTTTGACCTGCTGTGCCCATGCTCATCTTTGTCGGGGCTTGGCTTGGCAGCGAGCGAGGCTGGCATGGGGTGCTGAAGTGGGGTCTCAGTGAGGGGTGACAGCGTGCTGGCAGTCCTCACAGCCCTCGCTCGCTCTCGGCGCCTCCTCTGCCTGGGCTCCCACTTTGGCGGCACTTGAGGAGCCCTTCAGCCCACCGCTGCACTGTGGGGAGCCCCTTTCTGGGCTGGCCAAGGCCAGAGCAGGCTCCCTCAGCTTGCAGGGAGGTGTGGAGCGAGAGGCGCGAGCGGGAACCGGGGCTGCATGCAGCGCTTGCGGGCCAGCTGGAGTTCCGGGTGGGCATGGGCTTGGCGGGCCTGCACTCGGAGCAGCCGGCCGGCCCTTCCGGCCCCGGGCAGTGAGGGACTTGGCACCCGGGCCAGCGGCTGCAGAGGGTGTACTGGGTCCCCCAGCAGTGCCGGCCCACCTGCGCTGTGCTTGATTTCTCGCTGGGCCTTAGCTGCCTTCCCGCGGGGCAGGGCTCGGGACCTGCAGCCCGCGGTGCCTGAGCCTCCCACCCGCTCCATGGGCTCCTGTGGGGCCCGAGCCTCCCCGACGAGTACCACCCCCTGCTCCAGGGCGCCCAGTCCCATCGACCACCCAAGGGCTGAGGAGTGCGAGCGCACGGCGCGGGACTGGCAGGCAGCTCCACCTGCAGCCCCGGTGCGGGATCCACTAGGTGAAGCCAGCTGGGCTCCTGAGTCTGATGGGGACGTGGAGAGTCCTTATGTCCTGCTCAGGGATTGTAAACACACCAATCAGCACCCTGTGTTTAGCTCAAGGTTTGTGAGTGCACCAGTCGACACTCTGTATCTAGCTGCTCTGGTGGGGCCTCGGAGAACCTTTATATCTAGCTCAGGGATTGTAAATACACCCATCGGCACTGTGTATCTAGCTCAAGGTTTATAAACACACCAATCAACACCCTGTGTCTAGCTCAGGGTTTGTGAGTGCACCAATCAACACTCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAGAACCTGTGTGTCGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACCTTTGTATCTAGCTCAGGGATTGTAAACGCACCAATCAACGACCTGTCAAAACAGGCCACTCGGCTCTACCAATAAGCAGGATGTGGGTGGGGCCAGATAAGAGAATAAAAGCAGGCTGCCCGAGCCAGCATTGGCAACTCGCTCGGGTCCCCTTCCACGCTGTGGGAGCTTTGTTCTTTGCAATAAATCTTGCTACTGCTCA)$ . 11BR042 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 13 0 23 84 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),mismappers(1) GCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAAC(GACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR042 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 4 9 0 57 29 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(3),mismatches(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCC)ATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTGGTGAGGCAGAGCATATGGAAAATG___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvgeaehmendsrplpdvaltgkctrecd 11BR042 ENSG00000066777.9 ENSG00000271966.1(32156),ENSG00000241961.1(29272) -/- ./- chr8:67217782 chr8:67377243 CDS/splice-site intergenic duplication 1 3 0 119 4 high out-of-frame . Dimerisation_and_cyclophilin-binding_domain_of_Mon2(100%),Domain_of_unknown_function_(DUF1981)(100%),Guanine_nucleotide_exchange_factor_in_Golgi_transport_N-terminal(100%),Sec7_domain(100%)| . . ENSG00000066777.9 . ENST00000262215.8 . upstream downstream . ^(GTTTCCTCCCAACATGGCGGCCGGGGCAGGTCGGCGGTGATGGGGGCCAGTTCGCGGCCGCGGCGGGTGCTAATCCCCACAGTAGCCAGGGTAGCCCTTCTCTCGCGGTGCCTCTGAGAGCCGCCGCCACCTCGTCCCTCAGTTCCCGGCAGACAGCCGCCCGGGCCGGGCTCCCTCACCGCCACCAGGGCCGGAGGGACGAGTGAGAGGGGCGGCCGGGACGCGACCCCCGGGCCGGGAGAAGCGGAGGCCCGACGGGCGCGGCCCTCGAGGTACGGCTTCTTGGGGGCGGCGAGGACCTCGACGCCCTTCGCCGACACCGCGGCTGGTCCCGCTCGCCCGCCCCTTCCTGATCCTGCCGCTGCCCTCCACGCCTCCAATCCCCCACCTCCACCCCCTCTCCTTTCTCTCTTCTCTTCCTTCCTCTCCTCCTCCTCCCCTCCAGCCGCTGGGAGCCGCGGGTCGGACGAGCCGCCGCCTCCTTCTCTGCGTCCATGTATGAGGGGAAGAAGACGAAGAACATGTTCCTGACCCGGGCTCTGGAGAAGATATTGGCCGACAAGGAAGTGAAGAAGGCGCATCACTCCCAGCTGCGCAAAGCTTGCGAGGTGGCGTTAG___AGGAAATAAAAGCGGAAACTGAAAAACAGAG___TCCTCCTCATGGAGAAGCAAAAGCTGGATCAAGCACCCTTCCACCAGTGAAATCAAAGACAAATTTTATTGAAGCAGACAAGTACTTCTTGCCTTTTGAGTTGGCATGCCAGTCCAAATGTCCTCGCATAGTTAGTACATCTCTAGATTGCTTACAG___AAACTTATTGCTTATGGGCACTTGACTGGCAATGCTCCAGATAGTACAACACCAGGCAAAAAATTAATTGATAGAATTATTGAAACAATATGTGGCTGCTTTCAGGGCCCTCAGACAGATGAAGGAGTTCAGCTGCAGATAATAAAG___GCTTTACTTACTGCAGTAACATCACAACACATAGAAATTCATGAAGGGACTGTACTGCAAGCTGTGAGAACATGTTACAATATCTACTTAGCAAGCAAAAATCTCATCAATCAGACAACAGCCAAAGCTACTCTCACTCAGATGCTAAATGTTATCTTTGCACGCATGGAAAACCAAGCA___TTACAGGAAGCAAAACAAATGGAAAAAGAAAGGCATCGGCAGCATCATCATCTGTTACAGTCTCCAGTAAGCCATCACGAGCCTGAATCACCTCAACTTAGATATTTGCCACCTCAGACTGTTGATCATATATCCCAAGAACACGAAGGGGACCTTGACCTCCATACAAATGATGTAGATAAAAGTCTTCAGGATGACACAGAGCCTGAAAATGGATCTGATATTTCCAGTGCAGAAAATGAACAGACTGAAGCTGATCAGGCAACTGCAGCTGAAA___CATTATCTAAAAATGAAGTGTTATATGACGGAGAAAACCATGATTGTGAGGAAAAGCCACAAGACATTGTACAGAACATTGTAGAAGAAATGGTGAACATTGTTGTTGGAG___ATATGGGAGAAGGGACTACTATAAATGCAAGTGCAGATGGCAACATTGGAACTATAGAGGATGGTAGTGACAGTGAAAATATTCAAGCAAATGGAATTCCAGGAACACCAATTTCTGTTGCATATACACCATCCTTACCTGATGATAGATTGTCAGTCTCTTCCAATGATACTCAG___GAATCTGGAAATTCTTCAGGACCTTCACCTGGTGCTAAGTTTTCCCACATTTTACAAAAGGATGCCTTTCTAGTATTCAGGTCATTGTGTAAACTGTCAATGAAACCACTGTCAGATGGACCACCAGATCCAAA___GTCTCATGAACTACGATCCAAGATTCTTTCATTGCAGTTACTTCTATCCATTCTGCAGAATGCAGGACCTATTTTCAGGACAAATGAGATGTTTATTAATGCTATTAAGCAGTATCTTTGTGTTGCACTCTCAAAAAATGGAGTCTCATCTGTTCCAGAGGTTTTTGAGCTTTCTCTTTCTATATTTCTTACTTTGTTGTCAAATTTCAAGACACATCTGAAGATGCAAATTGAG___GTGTTCTTTAAAGAAATTTTCTTATACATTTTGGAAACTTCTACCAGCTCATTTGATCACAAATGGATGGTTATTCAGACACTGACGAGGATTTGTGCAG___ATGCTCAGAGTGTAGTGGATATTTATGTAAACTATGACTGTGACTTAAATGCAGCCAATATATTTGAAAGACTAGTAAATGATCTATCAAAAATTGCTCAAGGAAGGGGCAGTCAAGAACTTGGTATGAGTAATGTTCAG___GAATTGAGCCTGAGGAAAAAAGGTTTAGAATGCTTAGTGTCGATTTTGAAGTGTATGGTTGAATGGAGTAAGGATCAGTATGTGAATCCCAACTCCCAGACAACTCTTG___GTCAGGAAAAACCCTCAGAGCAAGAGATGAGTGAAATCAAACACCCTGAGACAATAAACAGATACGGAAGTTTAAATTCCCTGGAGTCAACATCATCATCAGGAATAGGCAGCTACAGTACACAGATGTCTGGCACTGATAATCCAGAACAATTTGAGGTCCTAAAGCAACAAAAAGAAATAATAGAACAAGGGATAGATTT___ATTTAATAAGAAACCAAAGAGAGGAATACAGTACCTCCAAGAACAAGGGATGCTTGGCACCACACCTGAAGATATTGCCCAATTCTTACATCAAGAGGAAAGATTAGACTCT___ACTCAAGTGGGTGAGTTCCTGGGAGATAATGATAAATTTAACAAAGAAGTCATGTATGCATATGTGGACCAACATGACTTTTCAGGAAAAGACTTCGTTTCAGCCCTTCGTATGTTTCTAGAAGGATTTCGTCTTCCAGGGGAAGCTCAGAAAATCGATCGATTAATGGAAAAATTTGCTGCAAGATACCTAGAATGCAACCAAGG___ACAAACTCTCTTTGCTAGTGCGGATACAGCTTATGTTTTGGCTTATTCAATTATCATGTTGACCACAGACCTTCACAGTCCACAG___GTGAAAAATAAAATGACAAAGGAACAATACATTAAGATGAATAGAGGTATCAATGACAGTAAAGACCTTCCTGAAGAGTATCTATCAGCCATCTATAATGAAATAGCTGGGAAAAAGATATCAATGAAAGAAACAAAAGAACTAACAATCCCTACAAAATCAAGTAAACAGA___ATGTAGCCAGTGAAAAACAAAGAAGACTTCTGTATAACTTAGAAATGGAGCAGATGGCCAAGACAGCTAAAGCACTCATGGAGGCCGTGAGCCATGTTCAGGCACCCTTTACAAGTGCAACACATTTGGAGCATGTGAGGCCCATGTTTAAG___TTGGCTTGGACGCCTTTTCTGGCTGCATTCAGTGTGGGTCTACAAGATTGTGATGATACTGAAGTAGCCTCTCTTTGCCTGGAAGGTATAAGATGTGCAATCAGAATTGCATGCATTTTCAGCATTCAG___CTGGAGAGAGATGCATATGTCCAGGCACTAGCAAGATTTACCTTACTCACAGTGAGTTCCGGTATTACTGAAATGAAACAGAAGAACATTGACACAATAAAAACACTTATCACAGTGGCTCATACAGATGGAAATTATTTAGGAAATTCATGGCATGAG___ATTCTGAAGTGCATCAGTCAGTTGGAGCTGGCACAGCTTATAGGAACTGGAGTGAAACCTCGATACATTTCTGGAACAGTGCGAGGCAGAGAAGGATCTCTTACTGGAACAAAAGATCAGGCTCCTGATGAATTTGTGGGTTTAGGGCTAG___TTGGAGGAAATGTGGACTGGAAACAGATAGCAAGTATTCAGGAATCCATTGGAGAAACCAGTTCTCAGAGTGTTGTTGTTGCTGTAGATAG___AATATTCACAGGATCTACAAGGCTAGATGGAAATGCCATTG___TGGATTTTGTCCGTTGGCTCTGTGCTGTGTCTATGGATGAATTACTTTCCACGACACACCCAAGAATGTTTAGTCTACAAAAAATAGTAGAAATATCATATTACAACATGGGAAGAATAAGATTACAGTGGTCTCGAATTTGGGAAGTTATTGGAGATCATTTTAATAAG___GTTGGGTGTAATCCTAATGAAGATGTAGCTATTTTTGCAGTAGACTCCTTGAGGCAGTTGTCAATGAAGTTCTTAGAGAAAGGGGAGCTTGCTAACTTCAGATTCCAGAAGGATTTCTTAAGACCTTTTGAACATATAATGAAACGGAACAG___GTCTCCAACAATTCGAGATATGGTTGTACGGTGTATAGCACAGATGGTTAATTCTCAAGCTGCTAACATTCGATCTGGATGGAAGAACATTTTCTCTGTATTTCATCTAGCTGCATCTGATCAAGATGAAAGCATAGTGGAACTTGCATTCCAAACAACCGGGCACATTGTCA___CCCTTGTATTTGAAAAACACTTTCCAGCGACCATTGATTCTTTCCAGGATGCAGTGAAGTGTTTGTCTGAATTTGCGTGCAATGCAGCTTTCCCAGACACAAGTATGGAAGCAATTCGACTTATTCGCCATTGTGCAAAATATGTGTCTGATAGACCTCAG___GCTTTCAAGGAATACACAAGCGATGATATGAACGTAGCACCTGAAGACAGGGTGTGGGTGAGAGGATGGTTCCCAATTCTCTTTGAGTTATCCTGTATCATCAATAGATGCAAATTAGATGTAAGAACCAG___GGGTTTAACAGTAATGTTTGAAATAATGAAAACATATGGCCACACTTATGAGAAACACTGGTGGCAGGATTTATTTAGAATTGTTTTCAGAATCTTTGACAATATGAAATTGCCAGAACAACAGACAGAG___AAAGCTGAATGGATGACAACAACTTGCAATCATGCACTTTATGCAATCTGTGATGTATTCACTCAGTATTTAGAAGTACTCAGTGATGTACTTTTGGATGACATTTTTGCTCAGCTCTACTGGTGTGTGCAGCAAG___ACAATGAGCAGTTAGCGCGATCTGGTACAAACTGTTTAGAGAATGTTGTTATTCTGAATGGT)GAAAAATTTACCCTAGAAATCTGGGATAAAACTTGCAACTGCACACTGGATATCTTCAAAACCACAATCCCACATGC|ATCCTTTAGGTGGTATGCTGAAAGAAGGCATTGTTGTCATAGGAGAGGACAGCTCCATGCGTGTTATTGCCCCTGAAAACCTTCCAGTAGGACAAGATGTGGAGGTGGAAGACAGTGACATTGATGATCCTGACCCAGTGTAGTCCTAGGCTAATGTGTGTGCTTGTGTTTTAGTTTTTAACAAAAAAGCCTAAAAAGTAAAAATTAAAATAAAAAATTTTAAAAATAGGTAAAGGTGTATTATAG MYEGKKTKNMFLTRALEKILADKEVKKAHHSQLRKACEVALEEIKAETEKQSPPHGEAKAGSSTLPPVKSKTNFIEADKYFLPFELACQSKCPRIVSTSLDCLQKLIAYGHLTGNAPDSTTPGKKLIDRIIETICGCFQGPQTDEGVQLQIIKALLTAVTSQHIEIHEGTVLQAVRTCYNIYLASKNLINQTTAKATLTQMLNVIFARMENQALQEAKQMEKERHRQHHHLLQSPVSHHEPESPQLRYLPPQTVDHISQEHEGDLDLHTNDVDKSLQDDTEPENGSDISSAENEQTEADQATAAETLSKNEVLYDGENHDCEEKPQDIVQNIVEEMVNIVVGDMGEGTTINASADGNIGTIEDGSDSENIQANGIPGTPISVAYTPSLPDDRLSVSSNDTQESGNSSGPSPGAKFSHILQKDAFLVFRSLCKLSMKPLSDGPPDPKSHELRSKILSLQLLLSILQNAGPIFRTNEMFINAIKQYLCVALSKNGVSSVPEVFELSLSIFLTLLSNFKTHLKMQIEVFFKEIFLYILETSTSSFDHKWMVIQTLTRICADAQSVVDIYVNYDCDLNAANIFERLVNDLSKIAQGRGSQELGMSNVQELSLRKKGLECLVSILKCMVEWSKDQYVNPNSQTTLGQEKPSEQEMSEIKHPETINRYGSLNSLESTSSSGIGSYSTQMSGTDNPEQFEVLKQQKEIIEQGIDLFNKKPKRGIQYLQEQGMLGTTPEDIAQFLHQEERLDSTQVGEFLGDNDKFNKEVMYAYVDQHDFSGKDFVSALRMFLEGFRLPGEAQKIDRLMEKFAARYLECNQGQTLFASADTAYVLAYSIIMLTTDLHSPQVKNKMTKEQYIKMNRGINDSKDLPEEYLSAIYNEIAGKKISMKETKELTIPTKSSKQNVASEKQRRLLYNLEMEQMAKTAKALMEAVSHVQAPFTSATHLEHVRPMFKLAWTPFLAAFSVGLQDCDDTEVASLCLEGIRCAIRIACIFSIQLERDAYVQALARFTLLTVSSGITEMKQKNIDTIKTLITVAHTDGNYLGNSWHEILKCISQLELAQLIGTGVKPRYISGTVRGREGSLTGTKDQAPDEFVGLGLVGGNVDWKQIASIQESIGETSSQSVVVAVDRIFTGSTRLDGNAIVDFVRWLCAVSMDELLSTTHPRMFSLQKIVEISYYNMGRIRLQWSRIWEVIGDHFNKVGCNPNEDVAIFAVDSLRQLSMKFLEKGELANFRFQKDFLRPFEHIMKRNRSPTIRDMVVRCIAQMVNSQAANIRSGWKNIFSVFHLAASDQDESIVELAFQTTGHIVTLVFEKHFPATIDSFQDAVKCLSEFACNAAFPDTSMEAIRLIRHCAKYVSDRPQAFKEYTSDDMNVAPEDRVWVRGWFPILFELSCIINRCKLDVRTRGLTVMFEIMKTYGHTYEKHWWQDLFRIVFRIFDNMKLPEQQTEKAEWMTTTCNHALYAICDVFTQYLEVLSDVLLDDIFAQLYWCVQQDNEQLARSGTNCLENVVILNGEKFTLEIWDKTCNCTLDIFKTTIPHa|sfrwyaerrhcchrrgqlhacycp* 11BR042 ENSG00000185052.12 ENSG00000101443.18 +/+ +/+ chr20:19281087 chr20:45479942 CDS/splice-site CDS/splice-site deletion 2 0 1 18 27 high in-frame . |WAP-type_(Whey_Acidic_Protein)_'four-disulfide_core'(100%) . . ENSG00000185052.12 ENSG00000101443.18 ENST00000328041.11 ENST00000372676.8 downstream upstream . ^(GATAGCGACGAGGAGGGCGACGACGAGGAGACGGGCAGCGGCGAGGAGGAGGAAGAGGAGGCGGAGGCGGCGGCCGGGTGGGAGCGCAGCGAGGACGCGCGGCTGCTGCGCGCAGGGCTGCCTCCTGCCGCTGTCCCCGCCGCGGCCGCCCGCGACAGGAGCGGCCGCCGCCCGCCGAGGCCGCCGCCCGGCCGCCCGAGGATGCGGCCGTCCGGCGACGAGGACCGCGCGCGTCGCCGCCGCCGCCGCCGCCGCCGGAGGGACCTTCTGCTGAGCCAGCTCTGCTTCCTGGCCTCGGTGGCG)CTGCTGCTCTGGTCGCTGTCGAGCCTGCGAGAGCAGAAGG___AGCTTGACCTCATGGACCTCaTAGGGGAAGACAGAAAGTGGATGATGGCGAGGAAGCTGATGCAGGTGAACGACACTCTGACTTCCGAAGATGCCGGACTCCGGAACAGCAAGAACTGCACCGAACCAG|ATAAGGAGGGTTCCTGCCCCCAGGTGAACATTAACTTTCCCC(AGCTCGGCCTCTGTCGGGACCAGTGCCAGGTGGACAGCCAGTGTCCTGGCCAGATGAAATGCTGCCGCAATGGCTGTGGGAAGGTGTCCTGTGTCACTCCCAATTTCTGAG___CTCCAGCCACCACCAGGCTGAGCAGTGAGGAGAGAAAGTTTCTGCCTGGCCCTGCATCTGGTTCCAGCCCACCTGCCCTCCCCTTTTTCGGGACTCTGTATTCCCTCTTGGGCTGACCACAGCTTCTCCCTTTCCCAACCAATAAAGTAACCACTTTCAGCA)$ MRPSGDEDRARRRRRRRRRRDLLLSQLCFLASVALLLWSLSSLREQKELDLMDLiGEDRKWMMARKLMQVNDTLTSEDAGLRNSKNCTEP|dKEGSCPQVNINFPQLGLCRDQCQVDSQCPGQMKCCRNGCGKVSCVTPNF* 11BR042 ENSG00000158321.18 ENSG00000225718.2 +/+ -/+ chr7:69599962 chr7:69349221 CDS/splice-site intron duplication/5'-5' 1 2 0 12 2 high out-of-frame . . . . ENSG00000158321.18 ENSG00000225718.2 ENST00000342771.10 . downstream upstream . ^(AGTGCCCGGGCTCCCGCTGCAGCCGCCCGGGGACACGCCGTGCACCCTCCGGCTCGGGGCTTTCTCGGCGGCGGCGGCGGCAGCAGCAGCAGCGTTAGCGGCGGCGGCGAGAGCAGCGTTCCCGGCTGCGCTTCTCCCTCAGGCGGGGCGGCGAGAGAAGCGGCGGCGGCGGCGGCGGCACACCGGTGTCTCTCCCGCTGGAGATTTCTTTCTGCTTTCCTCATCGACTGACTGACTCACCCCCTCCCTTTTTTGAGGAAGGGTGACCTCTTCTCTGGGACTGGAAAAAATATTTTTGTGAGGAGGGGGGCGGGTGGCAGCGACAGGGTTTGCTTCTTCTCTTCTTTCATCTCCCTCTCCTCCCCCCTCGAAGACCGAAAAGCAAACCCCACAACTGCTCCAGCAGCATCCTCCTTCCCTTCCTCCGCCTCCCTTCTCCTCCGCCGCTCGCAGTTTCGCCCTCTCTTCCGCTAATGATTGCATTATTATGCTCCCCTCTCTGGGGGGTCTCGCCCCTCTTGGGTCGCTCCGGAGCCCCGGCCTCCCCTGGCTGCATTTCTTAAAAATTTGGGAGCCTGGGAGTGAGTTTTCTCCGAGGCGTGTGTGAGAGGCGGCGGGGGTGTTTTCCTGCGCGAGGGGCGGGTGAAGTTCATTGCCCCCACTTTTCCCGCGACCTTTTTCGGACCCGATTTTGGATCGAGTTGAGGGGGGCGCGGGCGTTTTCGGGGGGCGGGGGGCGCGGCGGAGAATGGCCGCGGGGAGGGCTCCCCGGAGCCTCCCAGTCTCTTGATCAAAGCATTCCGCTATTCTGATTTATTGCTTGCTTGGTGAGTTATTTTTTTTTCCTCTAAAGGAGACCTGTGTGTTCAGCCATTACTTTGCTCGGCGCTGCTCCCAGGCATCTCCGACCCTCGGTGCTGTGGGGAGCCCCACACTTGGGCTCCTCGCCTCTCGCCCTCGCTCCCCGTCCCTCCTCCCCTCTCTCCGCCCCTTCCCCCTTTTCTTTCTCCTCTCTTTCTTCCCCTCTCTCCCTTCTTTCGGCCGCCGTCTCCCCCGCGCCCTCCTCGGGGCGGAGGGAAGCCGTGAAGGGGGAGGGAGGGCTCGGTGTCAATTTTTTTTTGTGTGGCTGCGGCCGTAGCCTGTGGCGGGCAAGCGGGGAGACCCCGGCGCAGCAGAACCATGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAGCGGCGGTCGCGGTCGCAGCGAGACCGGGAGAGGCGCTCCCGGGGCGGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCCGGACCCGGGCGCTCTCACTCGCCTCGTCGTCGGGCTCCGACAAGGAAGA)CAATGGGAAGCCCCCGTCCTCCGCCCCGTCCCGGCCCAGACCCCCGCGGAGGAAGCGGAGAGAGTCCACCTCGGCAGAAGAGGACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAAGCGCTGGAG|GTTCCCATTCACTGCAGAAGTGTAACCCCAAAACAATGAAATCAATCAGCACGGAAGCACTATCTTCAGCGTTCTGAATGCTGCCACTTGTACTTCAAGGCTCCTTGAATAAATAAACACTGGAAAGCT MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEALE|vpihcrsvtpkq* 11BR042 ENSG00000248763.2(19715),ENSG00000171234.14(6871) ENSG00000156096.14 ./+ -/- chr4:69089603 chr4:69493841 intergenic CDS/splice-site inversion 10 0 0 89 0 medium . . |UDP-glucoronosyl_and_UDP-glucosyl_transferase(100%) . . . ENSG00000156096.14 . ENST00000305107.7 downstream downstream . CCTGAGGTAGGACAAAAGTGGGCTTCCCAAACCAAAAAGATTCACAGATCCATGAAGAAACTGAACATTCACTTCAAATTTCCTCCTCTGATCTTGGCAACTGCAG___GAAATGAAAGCATTTGTCCAGATCTCTGGCAAAGATGGCACTGTGGTGTTTTCTCTGGGGCCAGTTGTGCAAAACCTTATAGAAGAGAAGGCTGATCTCATTGCTTCAGACTTGGCCCAGATTCCACAGAAG|GAAGACCCACTACGTTATCTGAGACAATGG(CAAAAGCTGACATATGGCTTATTCGAAACTACTGGGATTTTCAATTTCCTCACCCACTCTTACCAAATGTTGAGTTCGTTGGAGGACTCCACTGCAAACCTGCCAAACCCCTACCGAAG___GAAATGGAAGAGTTTGTCCAGAGCTCTGGAGAAAATGGTGTTGTGGTGTTTTCTCTGGGGTCGATGGTCAGTAACACGTCAGAAGAAAGGGCCAATGTAATTGCATCAGCCCTTGCCAAGATCCCACAAAAG___GTTCTGTGGAGATTTGATGGGAATAAACCAGATACTTTAGGACTCAATACTCGGCTGTACAAGTGGATACCCCAGAATGATCTTCTTG___GTCACCCAAAAACCAGAGCTTTTATAACTCATGGTGGAGCCAATGGCATCTATGAGGCAATCTACCATGGAATCCCTATGGTGGGCGTTCCATTGTTTGCAGATCAACCTGATAACATTGCACACATGAAGGCCAAGGGAGCAGCTGTTAGTTTGGACTTCCACACAATGTCGAGTACAGACTTACTCAATGCACTGAAGACAGTAATTAATGATCCTTT___ATATAAAGAGAATGCTATGAAATTATCAAGAATTCATCATGATCAACCAGTGAAGCCCCTTGATCGAGCAGTCTTCTGGATTGAATTTGTCATGCGCCATAAAGGAGCCAAGCACCTTCGGGTTGCAGCCCACGACCTCACCTGGTTCCAGTACCACTCTTTGGATGTGACTGGGTTCCTGCTGGCCTGTGTGGCAACTGTGATATTCATCATCACAAAATGTCTGTTTTGTGTCTGGAAGTTTGTTAGAACAGGAAAGAAGGGGAAAAGAGATTAATTACGTCTGAGGCTGGAAGCTGGGAAACCCAATAAATGAACTCCTTTAGTTTATTACAACAAGAAGACGTTGTGATACAAGAGATTCCTTTCTTCTTGTGACAAAACATCTTTCAAAACTTACCTTGTCAAGTCAAAATTTGTTTTAGTACCTGTTTAACCATTAGAAATATTTCATGTCAAGGAGGAAAACATTAGGGAAAACAAAAATGATATAAAGCCATATGAGGTTATATTGAAATGTATTGAGCTTATATTGAAATTTATTGTTCCAATTCACAGGTTACATGAAAAAAAATTTACTAAGCTTAACTACATGTCACACATTGTACATGGAAACAAGAACATTAAGAAGTCCACTGACAGTATCAGTACTGTTTTGCAAATACTCAGCATACTTTGGATCCATTTCATGCAGGATTGTGTTGTTTTAACTGTTGTTGAGGAAGCTAATAAATAATTAAATTGTA)$ . 11BR042 ENSG00000230869.1 ENSG00000264204.2(37332),ENSG00000263482.3(65195) +/+ ./+ chr10:45684520 chr10:46168690 exon/splice-site intergenic deletion 0 2 0 5 6 medium . . . . . ENSG00000230869.1 . ENST00000454844.1 . downstream upstream duplicates(1) ^(GTGGGCAGGCGAGGAGCGGGAAGACCATCTCTGCAAGTGCAGCATAGCCTCGGCCTAGGACAGCGGGAGTGCGTGGCCAAAGCTGTGAGCAGAGGCACAGGTGGTGGCAGACAGTAGAGGCACCCCATGGGGAACATACTGACCTGTCGTGTGCACCCTAGCGTCAGCCTCGAGTTTGACCAGCAACAGGGGTCGGTGTGTCCCTCTGAATCTGAGATCTATGAGGCAGTAGCTGGGGACAGGATGGCAGGAGCGCCCATGGCTGCTGCTGTGCAGCCTGCTGAGGTGACTGTTGAAGTTGGTGAGGACCTCCACATGCACCACGTTCGTGACCGGGAGATGCCTGAAG___CTTTGGAGTTTAACCCTTCTGCCAATCCAGAGGCA)AGCACAATATTCCAGAGGAACTCTCAAACAGATG___TTGTAGAAATAAGAAGAAGCAACTGTACAAACCAT|ATTTTCTATCAAGAATTTGAAGTGGCCTATTGATGTCTCCAACTATTATTGCAGAACTACACATTCTTTCCCTAAATTTTGCCAATGTTTGCTTcGTATATTTTGGGGGCTCTGTTGTTTAGTGTGTG . 11BR042 ENSG00000162402.14 ENSG00000234810.4 -/- +/- chr1:55151912 chr1:55426493 intron intron duplication/5'-5' 1 1 0 5 7 medium stop-codon . . . . ENSG00000162402.14 ENSG00000234810.4 ENST00000294383.7 . upstream downstream . ^(AGGAGGCCAACATGGCGGCGCGCAGGGCTGGGCCGGGCCGCAGCCGCGCCTGAGCGCCTCACCGCACTAGCTCGGCTCGCAGGACCCAAGCCCGCACCCAGCCTGGCCCGGCTGCTGCGGAGCACCCGGGGCAGGAACGCAGGGGCCAACCTGGGCGCGGAGGCGGCGCGGAGGGTGCGCCGCGCGGCCCGCCAGGCCCGGGACCCGTAGCTTCGCCGTGCGCTGGCCGGGGCGGCCAGGAGGCCCAAGCCATGGAATCGGAGGAGGAGCAGCACATGACCACGCTGCTGTGCATGGGCTTCTCAGACCCCGCCACCATCCGCAAGGCCCTGCGCCTGGCCAAGAACGACATTAACGAGGCCGTGGCACTGCTCACCAACGAGCGGCCGGGCCTCGACTACGGCGGCTACGAGCCCATGGACAGCGGCGGTGGCCCCAGCCCCGGGCCCGGCGGGGGCCCGCGGGGCGACGGCGGAGGTGACGGCGGCGGCGGCGGCCCCTCCCGCGGCGGGAGCACCGGAGGCGGGGGCGGCTTCGACCCCCCGCCCGCCTACCACGAGGTGGTGGACGCGGAG___AAGAATGATGAGAATGGAAACTGCTCAGGGGAAGGAATTGAATTCCCTACAACAAATTTATATGAACTGGAAAGCCGTGTTTTGACTGATCATTGGTCCATCCCTTACAAGCGAGAAGAATCACTAGGCAAATGCCTGTTGGCATCTACCTACCTAGCAAGACTTG___GTCTTTCCGAGTCTGATGAGAATTGTAGAAGGTTTATGGACAGGTGTATGCCTGAAGCATTTAAAAAG___CTCCTGACATCAAGTGCTGTTCACAAGTGGGGTACTGAAATTCATGAAGGAATTTACAACATGTTGATGCTATTAATAGAACTGGTCGCAGAGAGAATAAAACAAGATCCAATTCCCACTGGTCTCCTGGGTGTGCTTACAATG___GCTTTCAATCCTGATAATGAATACCATTTTAAAAACAGAATGAAAGTGTCTCAAAGGAATTGGGCAGAAGTGTTTGGAGAGGGAAATATGTTTGCTGTTTCACCTGTATCGACTTTCCAAAAG___GAGCCTCATGGATGGGTTGTGGATTTGGTAAATAAG___TTTGGAGAATTAGGTGGATTTGCAGCAATCCAAGCCAAGCTCCATTCAGAAGATATAGAACTTGGG___GCTGTCTCAGCACTGATTCAGCCCTTAGGAGTGTGTGCAGAGTACCTCAATTCCTCCGTGGTACAG___CCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAG___AGATTGGTTAGCATCCCTGAGCTCTTGTCTGCCGTTAAGTTACTTTGCATGCGCTTCCAACCGGATCTGGTGACAATTGTGGATGACCTTCGACTAGATATTCTATTGCGCATGCTGAAATCACCACATTTCAGTGCTAAGATGAATTCTCTCAAAGAA___GTAACCAAACTAATAGAAGATAGCACTTTATCCAAATCTGTGAAGAATGCTATAGATACAGACAGATTATTAGATTGGCTAGTTGAAAACTCAGTTCTGTCGATTGCACTGGAAG___GCAACATAGACCAAGCACAATACTGTGACCGTATAAAGGGAATTATTGAACTCTTGGGTAGTAAATTGTCGTTAGATGAACTCACTAAAATTTGGAAGATACAG___TCAGGACAATCATCTACTGTGATTGAGAACATTCATACTATTATTGCTGCAGCGGCTGTGAAATTTAATTCAGATCAGCTTAATCATTTGTTTGTTCTCATTCAGAAG___AGCTGGGAGACTGAGAGTGATAGAGTAAGACAGAAGCTTTTGAGCCTGATTGGACGAATAGGCCGGGAAGCTCGCTTTGAGACCACTTCTGGAAAG___GTTTTAGACGTACTCTGGGAACTGGCTCACCTTCCAACCCTGCCCAGTAGCCTTATTCAGCAGGCCTTGGAGGAGCACCTGACAATCCTTAGTGATGCATATGCAGTGAAAGAAGCAATCAAGAGGAG)CTACATCATCAAGTGCATAGAAGATATTAAGAGG___CCTGGAGAATGGTCAGGTTTGGAAAAAAACAAGAAGGATGGATTCAAG___GCAGCAAGGTGGGCTGACTGGGGATTATGTCTCCCTGCCAGGCTACACAGAAACTAAGCAAAGG|TTTAACAGCTTCCTGCCCCAGTGTCCAGAGCTTCCCTATCTCAATATCATCGGCAGTATCATCGGC . 11BR042 ENSG00000258710.8 ENSG00000280709.2 +/+ +/+ chr15:20942560 chr15:21595606 exon/splice-site 5'UTR/splice-site deletion 1 1 0 287 38 medium . . . . . ENSG00000258710.8 ENSG00000280709.2 ENST00000553416.5 ENST00000628444.1 downstream upstream duplicates(2),inconsistently_clipped(1),mismatches(1) ^(GTTGCAGGCTATCGTGTGTTAACCTGTACTTCTGCCGCAGAGTTTGGAGAAAGCGGCAGCAGATTGTGCTGCCGCAGGCTGGAGCCTGGAACCTGGAGCCCTGGAGCCTTGAATGGTGTGTGGTGGCAATGGAGAGAGGCAGCTGGCAGTGACAGCTGCTCCGTGCTTGGCTACAGGAAGGAAAGAAGGAGAAAGCACCTACCATAGGCTGGAGGCTAGAGCCTGCAGGACTGCGGCTGGCCTCGCTGGCTCGCCTCCCTGGCTGGCCTCGCTGTGGTTGGTGGCAGCGACGGATACTGCAGCTGGCCAGAGTGTAGAAAGGCAATGGG___GAGCGCAGTCCTGGTGGGCCCAGCGGTTCCTGTGGATTGGAGCCAGGCAGTGTGATGTTACCAGTCACCACTCCAGGTCCCAGTTCCTGGCCCGCTTGAGCCAAAAGGAGAGGCTGGACTTTGGAGGGT)GGATATGAGTGCCTTCACTGAGACTGGtCCCTGCCACCCAGTGGCCAGGATGACAAG|TCCTGAAGATTTTCCTCAGATAATCTTTCATCTCTTTGTTCCTGAGACTATATATTAGAGGATTACAGAGTGGTGTTATCACAGAATAGAACAAG(___GTCACTTGATATTCTTGGCTTGATGAAAAAAAACAAGATTCTAACGTGACAGAACTTGTTCTTCTGGGCCTATCATCTTCTTGGGAGCTGCAGCTATTTCTCTTATTACTATTTTTGTTTTTTTACATTGCTATTGTCCTGGGAAACCTCTTGATAGTGGTAACAGTGCAAGCCCATGCTCATCTGCTCCAATCTCCTATGTATTATTTTTTAGGTCATCTCTCTTTCATTGACCTATGCCTAAGCTGTGTTACTCTGCCAAAGATGTTAGGGGATTTCCTACAGCAGGGCAAGAGCATCTCTTTTTCAGGATGCCTGGCCCAGATCTACTTCCTCCACTTTCTAGGAGCCAGTGAGATGTTTCTGCTGACAGTTATGGCCTATGACAG___TGGATTTTTATCTGAGATCTACAACTTATGAAGAATACAAATGATGTATATTCTTTTCTACTCTTCATGTATGGACTAGAGGGGCTTGCACAGTAG___TAAGAAAAAAATGGCTGAGACCCACAGGAACAAAGAAACAGGACAGGAGTTAGATGCAGAGAAGAGATTTCAACAAAAGTTTGGAAAAG___ATGCTAACGGTAGCATATGAGTCACAGACAGAACATTGGCACCTTTGTTTAAGAAACTGAATGTTAATGTCACATCTGCCTTTGGAGATTACAAATGAAATGGCTACCTTTCTACTGGAACCCTGACCAGAAGCCTGCCAGTTAGTAAGCTGGCTTAAGAGATCAATCTAAAATTTACATAAGGCTTTTGAAAAAAAGAAAAAA___GCAGAAGAAATGAAGATAGCAAACAACACAGTAGTGACAGAATTTATCCTCCTTGGTCTGACTCAGTCTCAAGATATTCAGCTCTTGGTCTTTGTGCTGATCTTAATTTTCTACCTTATCATCCTCCCTGGAAATTTTCTCATTATTTTCACCATAAGGTCAGACCCTGGGCTCACAGCCCCCCTCTATTTATTTCTGGGCAACTTGGCCTTCCTGGATGCATCCTACTCCTTCATTGTGGCTCCCAGGATGTTGGTGGACTTCCTCTCTGAGAAGAAGGTAATCTCCTACAGAGGCTGCATCACTCAGCTCTTTTTCTTGCACTTCCTTGGAGGAGGGGAGGGATTACTCCTTGTTGTGATGGCCTTTGACCGCTACATCGCCATCTGCCGGCCTCTGCACTGTTCAACTGTCATGAACCCTAGAGCCTGCTATGCAATGATGTTGGCTCTGTGGCTTGGGGGTTTTGTCCACTCCATTATCCAGGTGGTCCTCATCCTCCGCTTGCCTTTTTGTGGCCCAAACCAGCTGGACAACTTCTTCTGTGATGTCCGACAGGTCATCAAGCTGGCTTGCACCGACATGTTTGTGGTGGAGCTTCTGATGGTCTTCAACAGTGGCCTGATGACACTCCTGTGCTTTCTGGGGCTTCTGGCTTCCTATGCAGTCATCCTCTGCCATGTTCGTAGGGCAGCTTCTGAAGGGAAGAACAAGGCCATGTCCACATGCACCACTCGTGTCATTATTATACTTCTTATGTTTGGACCTGCTATCTTCATCTACATATGCCCTTTCAGGGCCTTACCAGCTGACAAGATGGTTTCTCTCTTTCACACAGTGATCTTTCCATTGATGAATCCTATGATTTATACCCTTCGCAACCAGGAAGTGAAAACTTCCATGAAGAGGTTATTGAGTCGACATGTAGTCTGTCAAGTGGATTTTATAATAAGAAACTGAGAAGGAGGAATTCTGGCTGGAATTCATATCATTCATTTAACAAGTCCTGTTTTTCACTGGTACCTCCCATTTGCCAGGTACCATTGTAGGCAATGGAGGAGAGTTATGCATAATGAGAGAATAAACTTATTATATTTAAAGAATATAAAGGAAACCCCAGAGTGGTTGAAGTATAATGAGTAAGTGTGAGAAATTTAAGGGTTAAGTTTTATGTGACTGCAAGGGTCTTTCGGTCTGAGGTAAGAATTTTTTCATATTTTAATTGTGGTAAGAACCCATTTTAATGTTTTAAGCAAAGGAGCAGTTCATCTACAATGCTTTCCTCTACTGGTTAGAGCAACATCAGCAAGATTTTAGGCAGAGATTAATAAACTGTAAAATATCAAAAACC)$ . 11BR043 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 14 1 46 30 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream low_entropy(1),mismatches(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGT)AATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR043 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 6 0 196 55 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream low_entropy(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAA)CTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCT...GATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAAGCCTCTATAGCTTGGCCTGTCTTCGTAGGAAACCCTGGCATCATATCTCAGCAAGG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR043 ENSG00000198554.12 ENSG00000100714.17 -/- +/- chr14:55008316 chr14:64431026 CDS/splice-site intron duplication/5'-5' 4 9 1 35 25 high out-of-frame . WD_domain__G-beta_repeat(100%)| . . ENSG00000198554.12 ENSG00000100714.17 ENST00000360586.8 . upstream downstream . ^(AGTGTGGTGAGCGAGCCGAAGCGCGGGAAGCAGCTCTTGTGGATCCTCAGTGGCGGAGGCTCGGTCACCCGG___ATAGGTAAAGGAAAACATGCCTGCCACACGGAAGCCAATGAGATATGGGCATACAGAGGGACACACGGAGGTCTGTTTTGATGATTCTGGGAG___TTTTATTGTGACTTGTGGAAGTGATGGTGATGTGAGGATTTGGGAAGACTTGGATGATGATGATCCTAAGTTCATTAATGTTGGAGAAAAGGCATATTCATGTGCTTTGAAG___AGTGGAAAACTGGTCACTGCAGTTTCTAATAATACTATTCAAGTCCACACATTTCCTGAAGGAGTTCCAGATGGTATATTGACTCGCTTCACTACAAATGCAAACCATGTGGTCTTTAATGGGGATGGTACTAAAATTGCTGCTGGATCTAG___)TGATTTTCTAGTCAAAATTGTGGATGTGATGGATAGCAGCCAACAGAAAACATTTCGAGGACATGATGCCCCTGTTTTAAGTCTTTCCTTTGATCCTAAGGACATCTTTCTG___GCATCAGCTAGTTGTGATGGATCTGTCAGAGTGTGGCAAATTTCAGATCAG|AAGAATCTCCTCCCAAATACAGAACTTGCAGTTTTTCCAAAATGAGATGTCCAGAGACCACAAATACCACACCACTGGGATCAACAGCCACACTGGGTTACTGAGGACACACCTCAAAACAGCGAGGAGGAGTGCACGGGAG MPATRKPMRYGHTEGHTEVCFDDSGSFIVTCGSDGDVRIWEDLDDDDPKFINVGEKAYSCALKSGKLVTAVSNNTIQVHTFPEGVPDGILTRFTTNANHVVFNGDGTKIAAGSSDFLVKIVDVMDSSQQKTFRGHDAPVLSLSFDPKDIFLASASCDGSVRVWQISDQ|knllpntelavfpk* 11BR043 ENSG00000198554.12 ENSG00000258824.2 -/- -/- chr14:55008316 chr14:64431026 CDS/splice-site intron duplication 4 9 1 35 25 high out-of-frame . WD_domain__G-beta_repeat(100%)| . . ENSG00000198554.12 ENSG00000258824.2 ENST00000360586.8 . upstream downstream . ^(AGTGTGGTGAGCGAGCCGAAGCGCGGGAAGCAGCTCTTGTGGATCCTCAGTGGCGGAGGCTCGGTCACCCGG___ATAGGTAAAGGAAAACATGCCTGCCACACGGAAGCCAATGAGATATGGGCATACAGAGGGACACACGGAGGTCTGTTTTGATGATTCTGGGAG___TTTTATTGTGACTTGTGGAAGTGATGGTGATGTGAGGATTTGGGAAGACTTGGATGATGATGATCCTAAGTTCATTAATGTTGGAGAAAAGGCATATTCATGTGCTTTGAAG___AGTGGAAAACTGGTCACTGCAGTTTCTAATAATACTATTCAAGTCCACACATTTCCTGAAGGAGTTCCAGATGGTATATTGACTCGCTTCACTACAAATGCAAACCATGTGGTCTTTAATGGGGATGGTACTAAAATTGCTGCTGGATCTAG___)TGATTTTCTAGTCAAAATTGTGGATGTGATGGATAGCAGCCAACAGAAAACATTTCGAGGACATGATGCCCCTGTTTTAAGTCTTTCCTTTGATCCTAAGGACATCTTTCTG___GCATCAGCTAGTTGTGATGGATCTGTCAGAGTGTGGCAAATTTCAGATCAG|AAGAATCTCCTCCCAAATACAGAACTTGCAGTTTTTCCAAAATGAGATGTCCAGAGACCACAAATACCACACCACTGGGATCAACAGCCACACTGGGTTACTGAGGACACACCTCAAAACAGCGAGGAGGAGTGCACGGGAG MPATRKPMRYGHTEGHTEVCFDDSGSFIVTCGSDGDVRIWEDLDDDDPKFINVGEKAYSCALKSGKLVTAVSNNTIQVHTFPEGVPDGILTRFTTNANHVVFNGDGTKIAAGSSDFLVKIVDVMDSSQQKTFRGHDAPVLSLSFDPKDIFLASASCDGSVRVWQISDQ|knllpntelavfpk* 11BR043 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 6 4 0 15 58 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismatches(2) CCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGC??????GGCGGCGGCGGCGGCGGCGGCGGC?GCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCAC(AGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR043 ENSG00000071073.13 ENSG00000207271.1(95865),ENSG00000238176.1(218106) -/- ./+ chr2:98678304 chr10:36722003 CDS/splice-site intergenic translocation 2 5 1 69 19 high out-of-frame . . . . ENSG00000071073.13 . ENST00000393487.6 . upstream upstream duplicates(2) ^(GCGGCCCGCAGCGGCGGCGGCAGCGGCGGCGGCGGCTACAGCAGCTCCGCCGGCAGCCGCGGGAGCACGGCGACGCCAGCGGCGG___GAAGGGAAAAGGCCGAGGCATCAGCGTGTGAAGACCGCAAAGACGATCCCGAGTACAGTTGTGAACAGCATTGCTGCTAGGCTCCTCCTGCAGATCATCTGAAATGAACCTCTCTTATTGATTTTTATTGGCCTAGAGCCAGGAGTACTGCATTCAGTTGACTTTCAGGGTAAAAAGAAAACAGTCCTGGTTGTTGTCATCATAAACATATGGACCA)GTGTGATGGTGAAATGAGATGAGGCTCCGCAATGGAACTGTAGCCACTGCTTTAGCATTTATCACTTCCTTCCTTACTTTGTCTTGGTATACTACATGGCAAAATGGGAAAG___AAAAACTGATTGCTTATCAACGAGAATTCCTTGCTTTGAAAGAACGTCTTCGAATAGCTGAACACAGAATCTCACAGCGCTCTTCTGAATTAAATACGATTGTGCAACAGTTCAAGCGTGTAGGAGCAGAAACAAATGGAAGTAAGGATGCGTTGAATAAGTTTTCAG|GAGAATCAAGGCTGCTGCCTCTGACAAAGAGATAAAAAGTGATGACTTACTCCAGATAAACTGCTGCAGTCTCTGGATCCACTGCGGTGCTGTCCTGAAGCACTTGAAGAAGAGCATGCTGGCTTTGTTCCACCCCATTTTCCCTCTGTTTCAACCAGTCCCTGAGTTGCAAAATGTAGTTCCcTCACC MRLRNGTVATALAFITSFLTLSWYTTWQNGKEKLIAYQREFLALKERLRIAEHRISQRSSELNTIVQQFKRVGAETNGSKDALNKFS|gesrllpltkr* 11BR043 ENSG00000171219.9 ENSG00000126391.14 -/- +/+ chr11:64841813 chr11:65411242 CDS/splice-site CDS/splice-site inversion 1 2 1 13 35 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000171219.9 ENSG00000126391.14 ENST00000342711.6 ENST00000317568.10 upstream upstream . ^(AGACGGTTGGGCGGACGGACGGCCCGACAGGCGGGCATGCGGGCGGCCAGACTGTAGCCGAGCAGCGAGGCTCCGGCCGCAGCCATGGAGCGGCGGCTGCGCGCGCTGGAGCAGCTGGCGCGGGGCGAGGCCGGCGGCTGCCCGGGGCTCGACGGCCTCCTAGATCTGCTGCTGGCGCTGCACCACGAGCTCA)GCAGCGGCCCCCTACGGCGGGAGCGCAGCGTGGCGCAGTTCCTGAGCTGGG___CCAGCCCCTTCGTATCAAAGGTGAAAGAACTGCGTCTGCAGAGAGATGACTTTGAGATCTTGAAGGTGATCGGCCGAGGAGCCTTTGGGGAG|GCAAGGGGATCAGGCGAGTGAAGCCGAAGCGCACCACATCCTTCTTCAGCCGGCAGCTGTCCTTGGGCCAGGGGAGCTACACCGTGGTGCAGCCCGGCGACAGCCTGGAGCAGGGCTGAGGACGCTGCACCCGGCAGGAGGAGGGCGACTGGGGGCCCTGGCCCGGCACTGTCCTCCTGAGGGGCAGGCGCCGGCTGCAACAGTCTCAT(GGGTCACCACGTGGGGAGGGCTGCCTCAGCAGGTTTCTCAGACCACGGAGAAGTGACTTTTGGGCCCGGGGCCATGCCCGGGCTGTGCAAAGCTGGCCAGGGCCTCCTGTAGGGCTCCTCTGCAGCCTGCCCTCCCTTCCCCCGGATGCTGGGCCCTGCTGCTCTCTCAGGACCATCCGATCAAGCTGCAGCTGCCACCCTCACCTAGAAACATGCCTTTGTGCCCACCTCAAGATGGGCAGTGTCCCTGTTCTGAAGTGCCCAGTGGCAGCTCCAGTGGTAGAGGACCAAGGATTGAGGTTTGGGACCTGAAGCTCCAGTGTGTGCCTTTGGCCTCTTCCCTGGACTTGGGTGACCAGTCTCCGTCTTCCTCCTGCTAGTGCTCCACCCCCCGGACTTGGATGACCAGTTTCCCACCTTCCTCCTGCTGGTGCTCCATCCCCCAATACCAGGCTGGGCCACCACTCTGAGGAGGGTAGGAGGGGCCTCCCTGGATTGAACCGGGACAGAAACACGGTGAGGGCCCCCACCACACCTCCCTGGTTGAATCAGGAATGGAGGGAGCCAGGCAGGGCCCTACCTGGGGTCCTGTGCCCCTCGTTCTGGTCTCCTTTGCAGGCACGAGATACCAGAAAGAGCATGCCTTTCTGATAGCCTTTGGTGATGTCACTGCTGGGAGGTGGCTATCCTGTGGACCACCTGGCCTCCAGACCCACACTCACAGTCTGTGAAAAACTGAAAATCCCCTGGTGGGCACTCCCTGGAGCCCAAGCAGCTCCCCTAGGGGACTGACCGGACCTGACCTCCCCTCCCTGTGTCTGGGTCTTCAGGTTTTAGTTTGGTCTTTGTTCATCTGAGTTGTGCTGGGGCAACGCCAGGAAGTGCCCTGGGTACCTCTGCTGTGCGCTCCTTCCCAGGTGGCGCCATGGATTCCTCTGGGGGCTGGCGCATGCCCAGGAAAGCCTGGGCCACACGGGACACTCTCTTCTTTATCGAGGACACTTGGAAAGGTGACTGATATGGGTGCTTGGCTTCTCTGGTCCCAGCTTGCCCTCCGGGGAGCAGGGGCTCTGTCTTGTCCCAGATGAGCTGAGAGCCCCTGAGAGGAGGGCTTTCCCAGCCCTGGGACCCTCCGAGGTGGGTGTGCGGGTCTCACAGGTGCTTCCTGGGACTTCCTGTGGCTGCACAGGGCTTGGCTTTGTCTTCGTTCCCGGTGGAAAACCGTGGGAGAGGAAGCTTGGGCCTCTACTCCAAGTATCAGAGCCTGTTCACCCTCCTCCCTTTGGTAGCTTGTGAATGTGCCAGGTGTTTCGAGGTAGGCTTGCCTTCTGGCAGCATGGACTTTGTTAAAATAATAGGCGGAAAGAAGAGGCCTGGGAAGGGCCCCCAGTCTTTTGGAATGTCCTGGTCACAGGGTCATGTCAGCTGCCAGTTCTCGTCTCCCGTCCTGGAGTTGCTCGGTCTTGCGGAGCTGCCCGCCTGCCTGTTCTGGCGGCTCCAGCGCAGGCTGTCCCTGCTGCTTTGATTCCAGGTGATTTTATTTTTTTTATTTTTTTATTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCAGGAGTGCAGTGGCGCATCTCGGCTCACTGCAACCTCTGTCTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCCGCTGATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCGTGAACTCCTGACCTCATGATCTGCCCGCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCCCCCAGCTGATTCCAGGCGAATTCTTCTCTGATGGGCGGGCGAGGGTGTGTTCGTGTGATGGGTTGGAGTGTGTGTGTCTGAGTACACAGATGATGTGTTTTCCCTTCAGCTTCTTACGTTTTCTGAGCATCCATTGTGCCTTAACATTTTCTGCTTGTCCTTTGGGACAAAGCAGTATTTTACTCATTCTTTGAATGTTCTCATTCTTTTGTATCATGTGACTTATTAAAATCAGTTTCTAACAAA)$ MERRLRALEQLARGEAGGCPGLDGLLDLLLALHHELSSGPLRRERSVAQFLSWASPFVSKVKELRLQRDDFEILKVIGRGAFGE|argsge* 11BR043 ENSG00000171219.9 ENSG00000126391.14 -/- +/+ chr11:64841650 chr11:65411242 CDS/splice-site CDS/splice-site inversion 1 1 1 9 35 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000171219.9 ENSG00000126391.14 ENST00000342711.6 ENST00000317568.10 upstream upstream . ^(AGACGGTTGGGCGGACGGACGGCCCGACAGGCGGGCATGCGGGCGGCCAGACTGTAGCCGAGCAGCGAGGCTCCGGCCGCAGCCATGGAGCGGCGGCTGCGCGCGCTGGAGCAGCTGGCGCGGGGCGAGGCCGGCGGCTGCCCGGGGCTCGACGGCCTCCTAGATCTGCTGCTGGCGCTGCACCACGAGCTCA)GCAGCGGCCCCCTACGGCGGGAGCGCAGCGTGGCGCAGTTCCTGAGCTGGG___CCAGCCCCTTCGTATCAAAGGTGAAAGAACTGCGTCTGCAGAGAGATGACTTTGAGATCTTGAAGGTGATCGGCCGAGGAGCCTTTGGGGAG___GTCACCGTGGTGAGGCAGAGGGACACTGGGCAGATTTTTGCCATGAAAATGCTGCACAAGTGGGAGATGCTGAAGAGGGCTGAG|GCAAGGGGATCAGGCGAGTGAAGCCGAAGCGCACCACATCCTTCTTCAGCCGGCAGCTGTCCTTGGGCCAGGGGAGCTACACCGTGGTGCAGCCCGGCGACAGCCTGGAGCAGGGCTGAGGACGCTGCACCCGGCAGGAGGAGGGCGACTGGGGGCCCTGGCCCGGCACTGTCCTCCTGAGGGGCAGGCGCCGGCTGCAACAGTCTCATGGGTCACCAC(GTGGGGAGGGCTGCCTCAGCAGGTTTCTCAGACCACGGAGAAGTGACTTTTGGGCCCGGGGCCATGCCCGGGCTGTGCAAAGCTGGCCAGGGCCTCCTGTAGGGCTCCTCTGCAGCCTGCCCTCCCTTCCCCCGGATGCTGGGCCCTGCTGCTCTCTCAGGACCATCCGATCAAGCTGCAGCTGCCACCCTCACCTAGAAACATGCCTTTGTGCCCACCTCAAGATGGGCAGTGTCCCTGTTCTGAAGTGCCCAGTGGCAGCTCCAGTGGTAGAGGACCAAGGATTGAGGTTTGGGACCTGAAGCTCCAGTGTGTGCCTTTGGCCTCTTCCCTGGACTTGGGTGACCAGTCTCCGTCTTCCTCCTGCTAGTGCTCCACCCCCCGGACTTGGATGACCAGTTTCCCACCTTCCTCCTGCTGGTGCTCCATCCCCCAATACCAGGCTGGGCCACCACTCTGAGGAGGGTAGGAGGGGCCTCCCTGGATTGAACCGGGACAGAAACACGGTGAGGGCCCCCACCACACCTCCCTGGTTGAATCAGGAATGGAGGGAGCCAGGCAGGGCCCTACCTGGGGTCCTGTGCCCCTCGTTCTGGTCTCCTTTGCAGGCACGAGATACCAGAAAGAGCATGCCTTTCTGATAGCCTTTGGTGATGTCACTGCTGGGAGGTGGCTATCCTGTGGACCACCTGGCCTCCAGACCCACACTCACAGTCTGTGAAAAACTGAAAATCCCCTGGTGGGCACTCCCTGGAGCCCAAGCAGCTCCCCTAGGGGACTGACCGGACCTGACCTCCCCTCCCTGTGTCTGGGTCTTCAGGTTTTAGTTTGGTCTTTGTTCATCTGAGTTGTGCTGGGGCAACGCCAGGAAGTGCCCTGGGTACCTCTGCTGTGCGCTCCTTCCCAGGTGGCGCCATGGATTCCTCTGGGGGCTGGCGCATGCCCAGGAAAGCCTGGGCCACACGGGACACTCTCTTCTTTATCGAGGACACTTGGAAAGGTGACTGATATGGGTGCTTGGCTTCTCTGGTCCCAGCTTGCCCTCCGGGGAGCAGGGGCTCTGTCTTGTCCCAGATGAGCTGAGAGCCCCTGAGAGGAGGGCTTTCCCAGCCCTGGGACCCTCCGAGGTGGGTGTGCGGGTCTCACAGGTGCTTCCTGGGACTTCCTGTGGCTGCACAGGGCTTGGCTTTGTCTTCGTTCCCGGTGGAAAACCGTGGGAGAGGAAGCTTGGGCCTCTACTCCAAGTATCAGAGCCTGTTCACCCTCCTCCCTTTGGTAGCTTGTGAATGTGCCAGGTGTTTCGAGGTAGGCTTGCCTTCTGGCAGCATGGACTTTGTTAAAATAATAGGCGGAAAGAAGAGGCCTGGGAAGGGCCCCCAGTCTTTTGGAATGTCCTGGTCACAGGGTCATGTCAGCTGCCAGTTCTCGTCTCCCGTCCTGGAGTTGCTCGGTCTTGCGGAGCTGCCCGCCTGCCTGTTCTGGCGGCTCCAGCGCAGGCTGTCCCTGCTGCTTTGATTCCAGGTGATTTTATTTTTTTTATTTTTTTATTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCAGGAGTGCAGTGGCGCATCTCGGCTCACTGCAACCTCTGTCTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCCGCTGATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCGTGAACTCCTGACCTCATGATCTGCCCGCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCCCCCAGCTGATTCCAGGCGAATTCTTCTCTGATGGGCGGGCGAGGGTGTGTTCGTGTGATGGGTTGGAGTGTGTGTGTCTGAGTACACAGATGATGTGTTTTCCCTTCAGCTTCTTACGTTTTCTGAGCATCCATTGTGCCTTAACATTTTCTGCTTGTCCTTTGGGACAAAGCAGTATTTTACTCATTCTTTGAATGTTCTCATTCTTTTGTATCATGTGACTTATTAAAATCAGTTTCTAACAAA)$ MERRLRALEQLARGEAGGCPGLDGLLDLLLALHHELSSGPLRRERSVAQFLSWASPFVSKVKELRLQRDDFEILKVIGRGAFGEVTVVRQRDTGQIFAMKMLHKWEMLKRAE|argsge* 11BR043 ENSG00000114686.9 ENSG00000114127.10 -/- -/+ chr3:131500430 chr3:142347622 CDS/splice-site intron inversion/5'-5' 2 1 0 208 2 high out-of-frame . Ribosomal_protein_L3(100%)| . . ENSG00000114686.9 ENSG00000114127.10 ENST00000264995.8 . upstream upstream . ^(GCAGAGAGCATCGGCCGGCGACCGTTCCGGCGGCCATTGCGAAAACTTCCCCACGGCTACTGCGTCCACGTGGCGGTGGCGTGGGGACTCCCTGAAAGCAGAGCGGCAGGGCGCCCGGAAGTCGTGAGTCGAGTCTTCCCGGGCTAATCCATGCCGGGTTGGAGGCTGCTGACGCAGGTCGGCGCCCAGGTGCTGGGTCGACTCGGGGACGGCCTGGGTGCTGCCCTGGGCCCGGGGAACAG___AACACACATCTGGCTTTTTGTTAGAGGTCTTCATGGAAAGAGTGGTACA)TGGTGGGATGAGCATCTTTCTGAAGAAAATGTCCCATTCATTAAGCAGTTGGTCTCTGATGAAGATAAAGCCCAATTAGCAAGTAAACTGTGTCCTCTGAAAGATGAACCATGGCCTATACATCCTTGGGAACCAG___GTTCCTTTAGAGTTGGTCTTATTGCCTTGAAGCTGGGCATGATGCCTTTATGGACCAAGGATGGTCAAAAGCATGTGGTCACATTACTTCAG|ATTCTTGCTCTGTTACCAAGGCTGGAAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCATGTGACTCTCATGACTCAGCCTTCTGAGTAGCTGGGACTACACGTGAGTACCATCGTGCCTGGCTAGTTTTTGTATTTTCAGTAGAGACGGG MPGWRLLTQVGAQVLGRLGDGLGAALGPGNRTHIWLFVRGLHGKSGTWWDEHLSEENVPFIKQLVSDEDKAQLASKLCPLKDEPWPIHPWEPGSFRVGLIALKLGMMPLWTKDGQKHVVTLLQ|ilallprlevqwhnlgslqplppgfm* 11BR043 ENSG00000052126.14 ENSG00000212475.1(48420),ENSG00000270807.1(93233) +/+ ./- chr12:19132450 chr12:33624620 CDS/splice-site intergenic inversion 1 1 0 25 2 high out-of-frame . WW_domain(100%)| . . ENSG00000052126.14 . ENST00000429027.6 . downstream downstream . ^(GAGAAGGCGGCGGCGGCGGCTAGGGATCAGACATGGCGGCGGATCTGAACCTGGAGTGGATCTCCCTGCCCCGGTCCTGGACTTACGGGATCACCAGGGGCGGCCGAGTCTTCTTCATCAA___CGAGGAGGCCAAGAGCACCACCTGGCTGCACCCCGTCACCGGCGAGGCGGTGGTCAC)CGGACACCGGCGGCAGAGCACAG___ATTTGCCTACTGGCTGGGAAGAAGCATATACTTTTGAAGGTGCAAGATACTATATAAA|AGCAAAGGGTTACAAACTCCTAGGAAGAGTTAGGATTCCATGGAAGTGCTTCGGGGACAATTTTGGAGTGGAGTCGGTGCAGGAAAGCAGAAAGAAG MAADLNLEWISLPRSWTYGITRGGRVFFINEEAKSTTWLHPVTGEAVVTGHRRQSTDLPTGWEEAYTFEGARYYIk|akgykllgrvripwkcfgdnfgvesvqesrk 11BR043 ENSG00000196586.16 ENSG00000186895.4 +/+ -/- chr6:75862407 chr11:69818844 intron CDS translocation 18 13 0 29 63 medium . . Myosin_head_(motor_domain)(100%)|Fibroblast_growth_factor(100%) . . ENSG00000196586.16 ENSG00000186895.4 ENST00000369981.7 ENST00000334134.4 downstream downstream duplicates(2),mismatches(5) TTCTGAAGGAG___GAACAAGAACTCTATCAAAAAGAAGGTTTAGGTGTTAATGAAGTGCATTATGTGGATAATCAGGACTGTATAG___...GTTTCTGTAGTTTTACTTTACTTTGAATATAGCTGTCATTTCGAAAAGGAGGAATTTCCAATTCCTTAGCCTCTTCTCCTGGTTTACAAATGGAATGGTTATTATAGTCATTTGCTTTCTTTATGTAGTAGCTTTTCTAAAACCTATATTAAATATATACTGTTACT|CGcCCGTGGCGGCGTCTACGAGCACCTTGGCGGGGCGCCCCGGCGCCGCAAGCTCTACTGCGCCACGAAGTACCACCTCCAGCTGCACCCGAGCGGCCGCGTCAACGGCAGCCTGGAGAACAGCGCCTACA___GTATTTTGGAGATAACGGCAGTGGAGGTGGGCATTGTGGCCATCAGGGGTCTCTTCTCCGGGCGGTACCTGGCCATGAACAAGAGGGGACGAC(TCTATGCTTCG___GAGCACTACAGCGCCGAGTGCGAGTTTGTGGAGCGGATCCACGAGCTGGGCTATAATACGTATGCCTCCCGGCTGTACCGGACGGTGTCTAGTACGCCTGGGGCCCGCCGGCAGCCCAGCGCCGAGAGACTGTGGTACGTGTCTGTGAACGGCAAGGGCCGGCCCCGCAGGGGCTTCAAGACCCGCCGCACACAGAAGTCCTCCCTGTTCCTGCCCCGCGTGCTGGACCACAGGGACCACGAGATGGTGCGGCAGCTACAGAGTGGGCTGCCCAGACCCCCTGGTAAGGGGGTCCAGCCCCGACGGCGGCGGCAGAAGCAGAGCCCGGATAACCTGGAGCCCTCTCACGTTCAGGCTTCGAGACTGGGCTCCCAGCTGGAGGCCAGTGCGCACTAGCTGGGCCTGGTGGCCACCGCCAGAGCTCCTGGCGACATCTTGGCGTGGCAGCCTCTTGACTCTGACTCTCCTCCTTGAGCCCTTGCCCCTGCGTCCCGCGTCTGGGTTCTCAGCTATTTCCAGAGCCAGCTCAAATCAGGGTCCAGTGGGAACTGAAGAGGGCCCAAGTCGGAGCTCGGAGGGGGCTGCCTGCAATGCAGGGCATTTGTGGGTCTGTGTGGCAGGAAGCCGGCAGGGAAGGGCCTGAGTGCCAGCCCTGGCAGACTGAGGAGCCTCCCAGGAGCAGCGGGGCAGTGTGGGGCTTTGTGTCATCACAACATTAAAGTATTTTATTCTA)$ . 11BR043 ENSG00000134352.20 ENSG00000228650.2(39446),ENSG00000095015.6(3800) -/- ./- chr5:55939811 chr5:56811749 3'UTR intergenic duplication 3 5 0 227 8 medium stop-codon . Fibronectin_type_III_domain(100%),Ig-like_C2-type_domain(100%),Interleukin-6_receptor_alpha_chain__binding(100%)| . . ENSG00000134352.20 . ENST00000381298.7 . upstream downstream inconsistently_clipped(1),mismatches(1) ^(GGATCTGACAGTGTTCCGGAGCCGGGGCGAGCAGCCAAAAGGCCCGCGGAGTCGCGCTGGGCCGCCCCGGCGCAGCTGAACCGGGGGCCGCGCCTGCCAGGCCGACGGGTCTGGCCCAGCCTGGCGCCAAGGGGTTCGTGCGCTGTGGAGACGCGGAGGGTCGAGGCGGCGCGGCCTGAG___TGAAACCCAATGGAAAAAGCATGACATTTAGAAGTAGAAGACTTAGCTTCAAATCCCTACTCCTTCACTTACTAATTTTGTGATTTGG___AAATATCCGCGCAAGATGTTGACGTTGCAGACTTGGCTAGTGCAAGCCTTGTTTATTTTCCTCACCACTGAATCTACAG___GTGAACTTCTAGATCCATGTGGTTATATCAGTCCTGAATCTCCAGTTGTACAACTTCATTCTAATTTCACTGCAGTTTGTGTGCTAAAGGAAAAATGTATGGATTATTTTCATGTAAATGCTAATTACATTGTCTGGAAAACAAACCATTTTACTATTCCTAAGGAGCAATATACTATCATAAACAGAACAGCATCCAGTGTCACCTTTACAGATATAGCTTCATTAAATATTCAGCTCACTTGCAACATTCTTACATTCGGACAGCTTGAACAGAATGTTTATGGAATCACAATAATTTCAGGCT___TGCCTCCAGAAAAACCTAAAAATTTGAGTTGCATTGTGAACGAGGGGAAGAAAATGAGGTGTGAGTGGGATGGTGGAAGGGAAACACACTTGGAGACAAACTTCACTTTAAAATCTGAATG___GGCAACACACAAGTTTGCTGATTGCAAAGCAAAACGTGACACCCCCACCTCATGCACTGTTGATTATTCTACTGTGTATTTTGTCAACATTGAAGTCTGGGTAGAAGCAGAGAATGCCCTTGGGAAGGTTACATCAGATCATATCAATTTTGATCCTGTATATAAAG___TGAAGCCCAATCCGCCACATAATTTATCAGTGATCAACTCAGAGGAACTGTCTAGTATCTTAAAATTGACATGGACCAACCCAAGTATTAAGAGTGTTATAATACTAAAATATAACATTCAATATAGGACCAAAGATGCCTCAACTTGGAGCCAG___ATTCCTCCTGAAGACACAGCATCCACCCGATCTTCATTCACTGTCCAAGACCTTAAACCTTTTACAGAATATGTGTTTAGGATTCGCTGTATGAAGGAAGATGGTAAGGGATACTGGAGTGACTGGAGTGAAGAAGCAAGTGGGATCACCTATGAAGATA___GACCATCTAAAGCACCAAGTTTCTGGTATAAAATAGATCCATCCCATACTCAAGGCTACAGAACTGTACAACTCGTGTGGAAG___ACATTGCCTCCTTTTGAAGCCAATGGAAAAATCTTGGATTATGAAGTGACTCTCACAAGATGGAAATCACATTTACAAAATTACACAGTTAATGCCACAAAACTGACAGTAAATCTCACAAATGATCGCTATCTAGCAACCCTAACAGTAAGAAATCTTGTTGGCAAATCAGATGCAGCTGTTTTAACTATCCCTGCCTGTGACTTTCAAG___CTACTCACCCTGTAATGGATCTTAAAGCATTCCCCAAAGATAACATGCTTTGGGTGGAATGGACTACTCCAAGGGAATCTGTAAAGAAATATATACTTGAGTGGTGTGTGTTATCAGATAAAGCACCCTGTATCACAGACTGGCAACAAGAAGATGGTACCGTGCATCGCACCTATTTAAGAG___GGAACTTAGCAGAGAGCAAATGCTATTTGATAACAGTTACTCCAGTATATGCTGATGGACCAGGAAGCCCTGAATCCATAAAGGCATACCTTAAACAAGCTC___CACCTTCCAAAGGACCTACTGTTCGGACAAAAAAAGTAGGGAAAAACGAAGCTGTCTTAGAGTGGGACCAACTTCCTGTTGATGTTCAGAATGGATTTATCAGAAATTATACTATATTTTATAGAACCATCATTGGAAATGAAACTG___CTGTGAATGTGGATTCTTCCCACACAGAATATACATTGTCCTCTTTGACTAGTGACACATTGTACATGGTACGAATGGCAGCATACACAGATGAAGGTGGGAAGGATGGTCCAGAATTCACTTTTACTACCCCAAAGTTTG___CTCAAGGAGAAATTGAAGCCATAGTCGTGCCTGTTTGCTTAGCATTCCTATTGACAACTCTTCTGGGAGTGCTGTTCTGCTTTAATAAGCGAGACCT___AATTAAAAAACACATCTGGCCTAATGTTCCAGATCCTTCAAAGAGTCATATTGCCCAGTGGTCACCTCACACTCCTCCAAGG___CACAATTTTAATTCAAAAGATCAAATGTATTCAGATGGCAATTTCACTGATGTAAGTGTTGTGGAAATAGAAGCAAATGACAAAAAGCCTTTTCCAGAAGATCTGAAATCATTGGACCTGTTCAAAAAGGAAAAAATTAATACTGAAGGACACAGCAGTGGTATTGGGGGGTCTTCATGCATGTCATCTTCTAGGCCAAGCATTTCTAGCAGTGATGAAAATGAATCTTCACAAAACACTTCGAGCACTGTCCAGTATTCTACCGTGGTACACAGTGGCTACAGACACCAAGTTCCGTCAGTCCAAGTCTTCTCAAGATCCGAGTCTACCCAGCCCTTGTTAGATTCAGAGGAGCGGCCAGAAGATCTACAATTAGTAGATCATGTAGATGGCGGTGATGGTATTTTGCCCAGGCAACAGTACTTCAAACAGAACTGCAGTCAGCATGAATCCAGTCCAGATATTTCACATTTTGAAAGGTCAAAGCAAGTTTCATCAGTCAATGAGGAAGATTTTGTTAGACTTAAACAGCAGATTTCAGATCATATTTCACAATCCTGTGGATCTGGGCAAATGAAAATGTTTCAGGAAGTTTCTGCAGCAGATGCTTTTGGTCCAGGTACTGAGGGACAAGTAGAAAGATTTGAAACAGTTGGCATGGAGGCTGCGACTGATGAAGGCATGCCTAAAAGTTACTTACCACAGACTGTACGGCAAGGCGGCTACATGCCTCAGTGAAGGACTAGTAGTTCCTGCTACAACTTCAGCAGTACCTATAAAGTAAAGCTAAAATGATTTTATCTGTGAATTCAGATTTTAAAAAGTCTTCACTCTCTGAAGATGATCATTTGCCCTTAAGGACAAAAATGAACTGAAGTTTCACATGAGCTATTTCCATTCCAGAATATCTGGGATTCTACTTTAAGCACTACATAAACTGACTTTATCCTCAGACTAGCTGAATGATTTTGTGCTGTTTCAGGATGTTTGCACTGAAGAAAAACAGAAAGCTTATCTGAAATTTATAAAACTTTTTGTTTTGCTACATAGAAAACAGAAGGTATTTGAATAATAAGCAGTGATATGCTTAGTGAGCACAGCTATACTGATTTTGATTAGAATAGTCATCAGAGTGGCTTAGGGACAGTTAATATAAAAGAGGAGCAAGGTGTAGACCATCATCTACTTCTGCTAAAATAACTTAAAAAGAGGTCCATAGGCCATAACTACATGAGCCCAGCTTTTGTAATCTGACAAAAAAATGAGGAGCAGCTTCGTGTATATCAGTGTACACGGTATTCCTTAGGTCCCTTCCATTGGTAGTGATGCTGCGAGTTATTACTGGAGAAAAGGAATTCTAGAGCTTTAACTTGGCAGATTAAAAGTACTCATTTTTTATTCATCAATAATTAGTAATCTCACTAGTTTTCAAAAATTTGCATATTATTGACAACCTCTTTGAAGATGCATTTCACAAACTCAACAGAGTGCCATGATAAGAGCTAGGGATCCCCCAAACTATCTCAAGCATCTAAAAAATTGCCATTTTTAAAGGCTTAAATTGTAGTAGTAAAGGGGAAAACAGGAAGTAGTAGTAAAGGGGAAAAAAAACCAATAAAGCATCTAAAAAATTGGCATGTTAAAAGGCTTAAATTGCTAATGTGTGTATATATATATATATATATACACACACATATCATTGACTTTTCTTAAGACTTCAGAGTACTGGGTAGATGAACACTTTATACAGTATATATCTTCAGCTTAAATTTGTTTTGAGTATTTTTTTTATTTTTAAATAAGTAGG)CAAAGATTTAAATTTTTTTATTTTTAtaAAATGTTTGAGGCACACTAAGACAACTTGGGCAATATTTGCCAAAACAAAACAGAACCCCAAAAAATGTACATCTTGTTCTTAGCAAATATCATTATTGTAGAGACACTTAATAAAGAGATGGTATTTTAATGTCTGCAGTTCTGAGGTAGGGTGGAACTTAGTTCTACATTGT|TAATAGGAAGTATTTGAGGCGAGGCACTGAAAAAATCTGTCAAATTAGTTGTGGGTATGACCATTATGAAAGATTGGGAAGAATTTACTTTGCAGGTATCTATCAGTAGTCACTTTAAAAAAACTAAAACTGAAAATTGTAGATGATGTGAAAGATACATGGAACTCTAAACGGTGAACCCACATTTTAAAGACTAAAGcCTTACAGCCAAATATTGACCAAAAAAACCC . 11BR043 ENSG00000083828.16 ENSG00000268750.7 +/- +/- chr19:57814560 chr19:57820839 CDS intron duplication 1 3 0 38 268 medium . . . . . ENSG00000083828.16 ENSG00000268750.7 . . upstream downstream . CAAGTCCTAAAGCAGCGAGGGAGCGGCACCTGcTTACGGCTCTGCAACCCGGACCCGGCGTCGGGACACTGAGGCGCTCTCGGGAGGGATCCCTGTTTCAGACACC|GCATCGCACTGATGTCAAACACAGGTGAAACCGTCTTTGCAAAATTATAACTGAGGAAATTATGACAGTGAAAGAAATCAGACCTAACCGACTCCATCTTGCTTTTAACCTTTAAGCTGTCCTTGTTCATTCCTGGGCACAGGCTGAATTAACTTAGGGAAGGAATTCAGTTCATGGTTTCACTCTGAAACAAAATTGATAACAG . 11BR043 ENSG00000164944.12 ENSG00000253704.2 -/- +/- chr8:94499374 chr8:94568641 CDS/splice-site exon duplication/5'-5' 2 1 0 144 3 medium out-of-frame . . . . ENSG00000164944.12 ENSG00000253704.2 ENST00000297591.10 . upstream downstream . ^(CTGTTCCCCGCCCGCGGCAAACATGGCGGTGGACTCGGCGATGGAGCTGTTATTTTTAGATACTTTTAAACACCCGAGCGCTGAG___CAAAGTTCTCATATAGATGTGGTTCGTTTTCCATGTGTGGTTTATATCAATGAAGTCCGAGTCATACCCCCAGGAGTAAGAGCCCATAGCAGTCTGCCAGACAATAGAGCATATGG___AGAGACATCTCCCCATACATTTCAATTAGACTTATTCTTCAACAATGTAAGCAAACCAAGTGCCCCTGTTTTCGATAGGTTGGGAAG___CCTGGAATATGATGAGAATACTTCCATCATCTTTAGACCTAACTCAAAG___GTGAATACTGATGGTCTGGTGCTAAGAGGCTGGTATAACTGTCTGACACTGGCAATATATGGATCAGTGGATAGAGTGATAAGTCATGACAGAGACTCTCCACCACCACCACCTCCACCGCCACCACCTCCCCAGCCACAACCAAGTTTGAAAAGGAATCCAAAACATG___CTGATGGGGAGAAAGAAGATCAGTTTAATGGAAGCCCTCCAAGACCACAGCCAAGGGGACCAAGAACTCCTCCAGGACCCCCTCCACCTGATGATGATGAAGATGATCCTGTGCCTCTGCCAG___TGTCTGGTGACAAGGAAGAGGATGCTCCTCATAGAGAAGATTACTTTGAGCCCATTTCTCCTGATCGGAATTCTGTTCCCCAGGAAGGGCAATATTCTGATGAAGGAGAAGTAGAAGAGGAACAACAAGAAGAAGGAGAAGAAGATGAAGATGATGTGGATGTAGAGGAAGAAGAGGATGAGGATGAGGATGATCGACGAACAGTAGACAGTATTCCTGAGGAGGAAGAGGAAGATGAAGAGGAAGAAGGTGAAGAGGATGAAGAAGGTGAAG___GGGATGATGGTTATGAACAAATTTCCAGTGATGAAGATGGAATTGCTGACTTGGAACGTGAAACATTTAAGTATCCAAACTTTGATGTTGAATACACTGCTGAAGACTTAGCTTCAGTTCCTCCTATGACATATGATCCATATGACAGGGAGCTTGTACCACTCTTATACTTCAGTTGTCCATACAAGACTACTTTTGAAATTGAAATCAGTAGAATGAAGGATCAAGGTCCAGATAAAGAAAATTCAGGGGCAATCGAAGCCTCAGTGAAGTTAACAGAACTCTTAGATTTGTATAGAGAAGATAGAGGTGCAAAATGGGTAACAGCTTTAGAAGAAATTCCAAGTTTAATAATAAAAGGGTTAAGCTATTTGCAATTGAAAAACACAAAACAAGACTCCCTTGGCCAGTTGGTAGACTGGACCATGCAAGCTTTAAATTTACAAGTAGCGCTTCGCCAACCTATCGCCTTAAATGTTCGACAGCTCAAAGCTGGGACCAAATTAGTGTCCTCACTAGCAGAATGTGGGGCTCAAGGAGTTACAGGACTGCTACAAGCAGGAGTGATCAGTGGATTATTTGAACTTCTGTTTGCTGATCACGTATCATCTTCTCTTAAGTTAAATGCTTTTAAAGCTTTGGACAGTGTCATTAGTATGACAGAAGGAATGGAAGCTTTTTTAAGAGGTAGGCAGAATGAAAAAAGTGGTTATCAAAAGCTTCTGGAACTCATACTTTTAGATCAGACTGTGAGGGTTGTTACTGCTGGTTCAGCTATTCTCCAAAAATGCCATTTCTATGAAGTCTTGTCAGAGATTAAAAGACTTGGTGACCATTTAGCAGAGAAGACTTCATCTCTTCCTAACCACAGTGAACCTGATCACGACACAGATGCTGGACTTGAGAGAACAAACCCAGAATATGAAAATGAGGTGGAAGCTTCTATGGATATGGATCTTTTGGAATCCTCAAATATAAGTGAAGGGGAAATAGAAAGGCTTATTAACCTCCTAGAAGAAGTTTTTCATTTAATGGAAACTGCCCCTCATACAATGATCCAACAACCTGTTAAGTCTTTCCCAACGATGGCACGAATTACTGGACCTCCAGAGAGGGATGATCCATACCCTGTTCTCTTTAG___ATATCTTCACAGTCATCACTTCTTGGAGTTGGTTACCTTGCTTCTGTCAATTCCAGTAACAAGTGCTCACCCTGGTGTGCTGCAAGCCACAAAAGATGTTTTGAAGTTTCTTGCACAGTCACAGAAGGGTCTTCTTTTTTTTATGTCGGAATATGAAGCAACAAATTTATTGATCCGAGCTCTGTGTCACTTTTATGATCAAGATGAGGAGGAAGGTCTCCAATCTGATGGTGTTATTGATGATGCATTTGCCTTGTGGCTACAGGACTCAACACAGACATTGCAATGTATTACAGAACTGTTCAGCCATTTTCAGCGTTGTACAGCCAGTGAAGAAACAGACCATTCAGATCTCTTGGGAACCCTGCACAATCTTTATTTGATTACTTTTAATCCTGTGGGAAGATCAGCTGTTGGCCATGTTTTTAGTCTGGAGAAAAATCTCCAAAGTCTTATTACTCTAATGGAGTACTATTCCAAAGAAGCCTTGGG___TGATTCCAAATCTAAGAAGTCAGTAGCTTATAATTACGCATGCATACTTATTTTGGTGGTGGTTCAGTCTTCCAGTGATGTTCAAATGCTAGAACAACATGCAGCATCTCTCTTGAAGCTTTGTAAAGCAGATGAAAATAATGCTAAATTGCAAG___AACTTGGCAAGTGGCTTGAACCTCTGAAAAACCTTAGATTTGAAATTAACTGCATCCCAAACTTAATTGAGTATGTTAAGCAG___AATATCGATAACTTGATGACCCCAGAAGGAGTTGGCCTTACCACTGCCTTACGTGTTCTCTGTAATGTTGCATGCCCACCACCTCCTGTTGAAG___GTCAACAGAAAGATCTGAAATGGAATCTTGCCGTTATTCAGCTTTTTTCTGCTGAAGGAATGGACACGTTTATTCGAGTTCTGCAAAAATTGAACAGTATTCTGACTCAGCCTTGGAGGCTCCATGTCAACATGGGGACTACCCTTCACAGAGTTACTACTATTTCAATGGCTCGCTGCACACTCACTCTTCTTAAAACTATGTTAACGGAACTCCTGAGAGGTGGATCCTTTGAGTTTAAGGACATGCGTGTTCCTTCAGCGCTTGTTACTTTACATATGCTCCTGTGCTCTATCCCCCTCTCAGGTCGTTTGGATAGTGATGAACAGAAAATTCAGAATGATATCATTGATATTTTACTGACTTTTACACAAGGAGTTAATGAAAAACTCACAATCTCAGAAGAGACTCTGGCCAATAATACTTGGTCTTTAATGTTAAAAGAAGTTCTTTCTTCAATCTTGAAGGTTCCTGAAGGATTTTTTTCTGGACTCATACTCCTTTCAGAGCTGCTGCCTCTTCCATTGCCCATGCAAACAACTCAG___GTTATTGAGCCACATGATATATCAGTGGCACTCAACACCCGAAAATTGTGGAGCATGCACCTTCATGTTCAAGCAAAGTTGCTCCAAGAAATAGTTCGCTCTTTCTCTGGCACAACCTGCCAGCCCATTCAACATATGTTACGGCGTATTTGTGTTCAATTGTGTGACCTTGCCTCACCAACTGCACTTCTGATTATGAGAACTGTGTTGGATTTGATTGTAGAAGACTTGCAAAG___CACTTCAGAAGATAAAGAAAAACAGTATACTAGCCAAACCACCAGGTTGCTTGCTCTTCTTGATGCTCTGGCTTCACACAAAGCTTGTAAATTAGCTATTTTGCATCTAATTAATGGAACTATTAAAGGTGATGAAAGATATGCAGAGATATTCCAGGATCTTTTAGCTTTGGTGCGGTCTCCTGGAGACAGTGTTATTCGCCAACAGTGTGTTGAATATGTCACATCCATTTTGCAGTCTCTCTGTGATCAG___GACATTGCACTTATCTTACCAAGCTCTTCTGAAGGTTCTATTTCTGAACTGGAGCAGCTCTCCAATTCTCTACCAAATAAAGAATTGATGACCTCAATCTGTGACTGTCTGTTGGCTACGCTAGCTAACTCTGAGAGCAGTTACAACTGTTTACTGACATGTGTCAGAACAATGATGTTTCTTGCAGAGCATGATTATGGATTATTTCATTTAAAAAG___TTCTTTAAGGAAAAACAGTAGTGCTCTGCATAGTTTACTGAAACGAGTGGTCA)GCACATTTAGTAAGGACACAGGAGAGCT?GCATCTTCATTTTTAGAATTTATGAGACAAATTCTTAACTCTGACACAATT|CTAATCTCTGGACTACATACTGAAGAATGATGTGGAAGTGTCACAGCAAACCCTTGGCCATAGAAAATTATAATCAAGTCTCATAGAAAAAGGTGGCAGCTGTTACTTTTGATTGGTGCCCTCAGAAAGGCAGGC MAVDSAMELLFLDTFKHPSAEQSSHIDVVRFPCVVYINEVRVIPPGVRAHSSLPDNRAYGETSPHTFQLDLFFNNVSKPSAPVFDRLGSLEYDENTSIIFRPNSKVNTDGLVLRGWYNCLTLAIYGSVDRVISHDRDSPPPPPPPPPPPQPQPSLKRNPKHADGEKEDQFNGSPPRPQPRGPRTPPGPPPPDDDEDDPVPLPVSGDKEEDAPHREDYFEPISPDRNSVPQEGQYSDEGEVEEEQQEEGEEDEDDVDVEEEEDEDEDDRRTVDSIPEEEEEDEEEEGEEDEEGEGDDGYEQISSDEDGIADLERETFKYPNFDVEYTAEDLASVPPMTYDPYDRELVPLLYFSCPYKTTFEIEISRMKDQGPDKENSGAIEASVKLTELLDLYREDRGAKWVTALEEIPSLIIKGLSYLQLKNTKQDSLGQLVDWTMQALNLQVALRQPIALNVRQLKAGTKLVSSLAECGAQGVTGLLQAGVISGLFELLFADHVSSSLKLNAFKALDSVISMTEGMEAFLRGRQNEKSGYQKLLELILLDQTVRVVTAGSAILQKCHFYEVLSEIKRLGDHLAEKTSSLPNHSEPDHDTDAGLERTNPEYENEVEASMDMDLLESSNISEGEIERLINLLEEVFHLMETAPHTMIQQPVKSFPTMARITGPPERDDPYPVLFRYLHSHHFLELVTLLLSIPVTSAHPGVLQATKDVLKFLAQSQKGLLFFMSEYEATNLLIRALCHFYDQDEEEGLQSDGVIDDAFALWLQDSTQTLQCITELFSHFQRCTASEETDHSDLLGTLHNLYLITFNPVGRSAVGHVFSLEKNLQSLITLMEYYSKEALGDSKSKKSVAYNYACILILVVVQSSSDVQMLEQHAASLLKLCKADENNAKLQELGKWLEPLKNLRFEINCIPNLIEYVKQNIDNLMTPEGVGLTTALRVLCNVACPPPPVEGQQKDLKWNLAVIQLFSAEGMDTFIRVLQKLNSILTQPWRLHVNMGTTLHRVTTISMARCTLTLLKTMLTELLRGGSFEFKDMRVPSALVTLHMLLCSIPLSGRLDSDEQKIQNDIIDILLTFTQGVNEKLTISEETLANNTWSLMLKEVLSSILKVPEGFFSGLILLSELLPLPLPMQTTQVIEPHDISVALNTRKLWSMHLHVQAKLLQEIVRSFSGTTCQPIQHMLRRICVQLCDLASPTALLIMRTVLDLIVEDLQSTSEDKEKQYTSQTTRLLALLDALASHKACKLAILHLINGTIKGDERYAEIFQDLLALVRSPGDSVIRQQCVEYVTSILQSLCDQDIALILPSSSEGSISELEQLSNSLPNKELMTSICDCLLATLANSESSYNCLLTCVRTMMFLAEHDYGLFHLKSSLRKNSSALHSLLKRVVSTFSKDTGELASSFLEFMRQILNSDTI|lisglhtee* 11BR043 ENSG00000101452.15 ENSG00000151320.11 +/+ +/+ chr20:39034317 chr14:32433460 CDS/splice-site 5'UTR/splice-site translocation 0 2 0 24 2 medium out-of-frame . Helicase_associated_domain_(HA2)(100%),Helicase_conserved_C-terminal_domain(100%),Oligonucleotide/oligosaccharide-binding_(OB)-fold(100%)|Spectrin_repeat(100%) . . ENSG00000101452.15 ENSG00000151320.11 ENST00000373325.6 ENST00000280979.9 downstream upstream . ^(CCCTCCGGGCCCTGGGGGCCTAGCGCGCGACGGTGGGGTGGAGCTAGCCTCGTGACCTTTTACCCCAACATGGCTGCGCCCGTGGGACCGGTGAAGTTCTGGCGACCCG___GTACAGAGGGGCCAGGTGTAAGCATCTCTGAAGAGAGACAAAGTCTGGCTGAAAACTCTGGGACAACGGTTGTTTACAACCCTTATGCTGCCCTTTCCATAGAGCAGCAGAGGCAGAAGCTGCCGGTATTCAAG___CTTAGGAATCATATTTTATACTTGATAGAAAATTATCAGACAGTGGTGATTGTTGGTGAAACAGGATGTGGGAAGAGCACACAGATTCCTCAG___TACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACA___GTTGCAGGGAGAGTAGCTGAAGAAAGGGGTGCAGTGCTGGGCCACGAGGTGGGCTACTGCATCCGCTTTGATGACTGCACCGACCAGCTGGCCACGAGAATTAAG___TTTCTTACTGATGGAATGCTGGTCAGGGAAATGATGGTTGATCCGTTGTTAACAAAATATAG___TGTCATCATGCTGGATGAAGCCCACGAGAGGACCTTGTACACTGACATTGCCATTGGCTTGCTAAAAAAG___ATTCAGAAAAAGCGAGGGGATCTTCGATTGATTGTAGCTTCAGCCACTCTGGATGCAGAC___AAATTCCGGGATTTCTTTAATCAAAATGAAACCAGTGATCCAGCAAGGGATACATGTGTGATCCTTACAGTGGAAGGGAGAACATTTCCGGTGGATATCTTTTATCTACAAAG___TCCTGTTCCAGATTATATCAAATCAACTGTCGAAACTGTGGTGAAAATTCACCAGACAGAGGGAGACGGAGACGTTTTAGCATTTCTTACTGGCCAG___GAAGAGGTAGAAACTGTTGTGTCGATGCTCATCGAGCAGGCTCGAGCACTAGCTCGCACTGGGATGAAGAGACACCTCCGAGTTCTCCCCATGTATGCAGGACTGCCTTCCTTTGAGCAAATGAAAGTGTTTGAAAGGGTGTCACGCAGTGTCAGAAAG___GTGATAGTGGCCACCAATGTGGCAGAAACCTCTATCACAATCAGCGGCATTGTGTATGTGATCGACTGTGGCTTTGTGAAACTCCGAGCCTACAATCCCAGGACAGCTATTGAATGCTTGGTGGTGGTGCCAGTCTCCCAGGCATCAGCTAATCAGCGAGCAGGACGTGGTGGTCGTAGTCGCTCGGGAAAATGTTATCGCCTTTATACAG___AGGAAGCCTTTGACAAGTTGCCTCAGTCTACGGTTCCTGAGATGCAGCGTAGTAATTTGGCACCTGTCATCCTGCAGCTGAAAGCACTAGGAATTGACAATGTCCTCAGGTTCCACTTCATGTCG___CCCCCTCCAGCACAGTCGATGGTTCAAGCCTTGGAGTTACTGTATGCTCTGGGAG___GTCTGGACAAAGACTGTCGCCTAACTGAACCGCTTGGCATGAGAATTGCAGAGTTTCCTTTGAATCCCATGTTTGCCAAAATGCTGCTTGAATCAG___GAAACTTCGGCTGTTCTCAGGAAATTCTAAGCATCGCTGCCATGATGCAGATCCAGAATATCTTTGTGGTCCCCCCAAACCAGAAGTCTCACGCA___ATTCGAGTGCACCGTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTTATCAAA___CACAATAAGGACTCTAAATGGTGTCAGGAACATTTCCTGAATTACAAGGGTCTTGTCAGAGCTGCGACTGTAAGAGAACAATTGAAAAAGCTTCTTGTCAAGTTTCAAGTGCCCAGGAAGTCTAGTGAAG___GTGACCCGGATCTGGTTCTGAGGTGCATTGTCTCCGGCTTCTTCGCCAATGCAGCGAGGTTTCATTCTACTGGAGCTTATAG___GGTCATCTATAACGAAGTTATACAGACCTCCAAGTACTACATGAGAGATGTGACTGCC)ATTGAATCGGCCTGGCTGTTGGAGCTGGCTCCACACTTTTATCAACAAGGAACG|CTGTTTTGGAAAGAAGTGAGGTTTAGACTTCTCCATGTTAACCATGAGCGTGACACTTTCCCCCCTGAGGTCACAGG(ACCTGGATCCCATGGCTACTGATGCTTCACCCATGGCCATCAACATGACACCCACTGTGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACATGGACTCTGACCAGCAGTATGAAAAGCCACCCCCACTACACACAGGGGCTGACTGGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTGGCTCCGGATGACCTCAGAGAGGGTCCGAGACCTAACCTATTCAGTCCAGCAGGATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCAACTAAAG___GACATTTGTGAAGATATTTCTGATCATGTTGAGCAAATCCATGCCCTCCTTGAAACAGAGTTCTCCCTAAAGCTGCTGTCTTACTCTGTCAACGTGATAGTGGACATCCACGCAGTGCAGCTCCTCTGGCACCAGCTTCGAGTCTCAGTGCTGGTTCTGCGGGAGCGCATTCTGCAAGGTCTGCAGGACGCCAATGGCAACTACACTAGGCAGACGGACATTCTGCAAGCTTTCTCTGAAGAGACAAAAGAG___GGCCGGCTTGATTCTCTAACAGAAGTGGATGACTCAGGACAATTAACCATCAAATGTTCTCAAAATTACTTGTCTCTGGATTGTGGCATTACTGCATTCGAACTGTCTGACTACAGTCCAAGTGAGGATTTGCTCAGTGGGCTAGGTGACATGACCTCTAGCCAAGTCAAAACCAAACCCTTTGACTCTTGGAGCTACAGTGAGATGGAAAAGGAGTTTCCTGAGCTTATCCGAAGTGTTGGTTTACTTACGGTAGCTGCTGACTCTATCTCTACCAATGGCAGTGAAGCAGTTACTGAGGAGGTATCTCAAGTATCTCTCTCAGTAGACGACAAAGGTGGATGTGAGGAAGACAATGCTTCTGCAGTCGAAGAGCAACCAGGCTTAACACTGGGGGTGTCATCATCTTCAGGAGAAGCTCTGACAAATGCTGCTCAACCCTCCTCTGAGACTGTGCAGCAAGAATCCAGTTCCTCCTCCCATCATGATGCAAAGAATCAGCAGCCTGTTCCTTGTGAAAATGCAACCCCCAAACGAACCATCAGAGATTGCTTTAATTATAACGAGGACTCTCCCACGCAGCCTACATTGCCAAAAAGAGGACTTTTTCTTAAAGAGGAAACTTTTAAGAATGATCTGAAAGGCAATGGTGGAAAGAGGCAAATGGTTGATCTAAAGCCTGAGATGAGCAGAAGCACCCCTTCGCTAGTAGATCCTCCTGACAGATCCAAACTTTGCCTGGTATTGCAGTCTTCTTACCCCAACAGCCCTTCTGCTGCCAGCCAGTCTTATGAGTGTTTACACAAGGTGGGGAATGGGAACCTTGAAAACACAGTCAAATTTCACATTAAAGAAATTTCTTCCAGCCTGGGAAGGCTTAACGACTGCTATAAAGAGAAATCTCGACTTAAAAAGCCACACAAGACCTCAGAAGAGGTGCCTCCATGCCGAACACCTAAACGGGGGACTGGTTCAGGCAAACAAGCTAAAAATACAAAGAGCTCAGCAGTGCCAAATGGAGAGCTTTCTTATACTTCCAAGGCCATAGAGGGGCCACAAACAAATTCTGCTTCCACATCCTCACTTGAGCCTTGTAATCAGAGAAGTTGGAATGCCAAATTGCAATTGCAGTCAGAAACATCCAGTTCACCAGCTTTTACTCAGAGCAGTGAATCCTCTGTTGGCTCAGACAACATCATGTCTCCGGTGCCACTTCTTTCAAAACACAAAAGCAAAAAAGGTCAAGCCTCCTCTCCAAGTCACGTCACTAGGAATGGTGAGGTTGTGGAGGCCTGGTATGGCTCTGATGAATACCTAGCACTGCCCTCTCACCTTAAGCAGACAGAAGTATTGGCTTTGAAGTTGGAAAACCTAACAAAGCTTCTGCCTCAGAAACCCAGAGGAGAAACCATCCAGAATATTGATGACTGGGAACTGTCTGAAATGAATTCAGATTCTGAAATCTATCCAACCTATCATGTCAAAAAGAAGCATACAAGGCTAGGCAGGGTGTCTCCAAGCTCATCTAGTGACATAGCCTCTTCACTAGGGGAGAGCATTGAATCTGGGCCCCTGAGTGACATTCTTTCTGATGAGGAGTCCAGTATGCCTCTCGCTGGCATGAAAAAGTATGCTGATGAGAAGTCAGAAAGAGCTTCATCCTCTGAGAAAAATGAGAGCCATTCTGCCACTAAATCAGCTTTAATTCAGAAACTGATGCAAGATATTCAGCACCAAGACAACTATGAAGCCATATGGGAAAAAATAGAG___GGGTTTGTAAACAAACTGGATGAATTCATTCAATGGTTAAATGAAGCCATGGAAACTACAGAAAATTGGACTCCCCCTAAAGCAGAGATGGATGACCTTAAACTGTATCTGGAGACACACTTG___AGTTTTAAGTTGAATGTAGACAGTCATTGTGCTCTCAAGGAAGCTGTGGAGGAGGAAGGACACCAACTTCTTGAGCTTATTGCATCTCACAAAGCAG___GACTGAAGGACATGCTGCGGATGATTGCAAGTCAATGGAAGGAGCTGCAGAGGCAAATCAAACGGCAGCACAGCTGGATTCTCAGGGCTCTGGATACCATCAAAGCCGAGATACTGGCTACTGATGTGTCTGTGGAGGATGAGGAAGGGACTGGAAGCCCCAAG___GCTGAGGTTCAACTATGCTACCTGGAAGCACAAAGAGATGCTGTTGAGCAGATGTCCCTCAAGCTGTACAGCGAGCAGTATACCAGCAGCAGCAAGCGAAAGGAAGAGTTTGCTGATATGTCAAAAGTTCATTCAGTGGGAAGCAATGG___GCTTCTGGACTTTGATTCAGAATATCAGGAGCTCTGGGATTGGCTGATTGACATGGAGTCCCTTGTGATGGACAGCCACGACCTGATGATGTCAGAGGAGCAGCAGCAGCATCTTTACAAG___CGATACAGTGTGGAAATGTCCATCAGACACCTGAAAAAGACGGAGCTGCTTAGTAAGGTTGAAGCTTTGAAGAAAGGTGGCGTTTTACTACCAAATGATCTCCTTGAAAAAGTGGATTCAATTAATGAAAAATGGGAACTGCTTGGG___AAAACCCTAGGAGAGAAGATCCAGGACACAATGGCAGGGCACAGTGGGTCGAGTCCACGTGACCTGCTCTCTCCTGAAAGTGGAAGCCTGGTAAGGCAGCTGGAGGTCAGGATCAAAGAACTGAAAGGATGGCTAAGAGATACAGAGCTTTTCATCTTCAATTCCTGTCTGAGACAAGAAAAGGAAGGAACAATGAATACTGAGAAACAACTGCAATACTTTAAG___TCCCTCTGTCGTGAAATCAAGCAACGACGTCGAGGAGTTGCCTCCATTCTGCGACTATGCCAGCATCTTTTGGATGACCGGGAGACTTGCAATCTGAATGCAGACCACCAGCCCATGCAGCTGATCATTGTAAATCTTGAAAGAAGGTGGGAAGCCATTGTCATGCAAGCCGTCCAGTGGCAAACACGTCTACAAAAGAAGATGGGAAAGGAATCT___GAGACTTTGAATGTGATTGATCCTGGCTTGATGGACCTAAATGGGATGAGTGAGGATGCCCTGGAATGGGATGAAATGGACATAAGTAACAAGTTAATTAGTTTGAATGAGGAATCAAATGACCTTGATCAAGAACTCCAACCTGTTATCCCTTCCTTGAAGCTTGGAGAGACAAGTAATGAGGACCCTGGTTATGACGAGGAGGCTGATAACCATGGGGGATCTCAGTATGCCTCAAATATTACTGCCCCCTCTAGTCCACACATTTACCAGGTGTACAGCCTCCACAATGTTGAACTCTATGAGGACAACCACATGCCATTTCTGAAAAACAATCCAAAGGTCACTGGCATGACACAGCCTAATGTTTTAACTAAGAGTCTCAGTAAAGACTCTTCATTTTCATCTACCAAATCTTTGCCAGATCTTCTAGGTGGTTCCAATTTGGTAAAGCCCTGCGCATGTCATGGAGGAGACATGAGCCAGAATTCAGGCAGTGAGAGTGGAATTGTCAGTGAAGGAGACACAGAAACCACTACCAACTCTGAAATGTGCTTGCTCAATGCAGTGGATGGGTCCCCAAGTAACCTTGAAACTGAACATCTGGACCCACAAATGGGAGATGCAGTTAACGTGTTAAAGCAAAAATTTACAGATGAGGGGGAAAGCATTAAGCTTCCAAATAGCTCTCAGTCGTCCATTTCACCAGTGGGTTGTGTAAATGGAAAAGTTGGAGATTTAAACAGTATTACCAAACATACCCCTGACTGTTTGGGAGAAGAATTACAAGGAAAACATGATGTGTTTACATTTTATGATTACTCATACCTCCAAGGCTCAAAACTCAAATTACCAATGATAATGAAACAGTCACAAAGCGAAAAAGCGCATGTGGAGGATCCCCTGCTTCGTGGTTTTTATTTTGATAAAAAATCATGCAAATCTAAACATCAGACTACAGAGTTACAACCAGATGTACCTCCCCATGAAAGGATTTTGGCAAGTGCATCTCATGAAATGGATCGCATTTCATATAAAAGTGGCAATATAGAAAAGACATTCACTGGCATGCAGAATGCCAAACAGCTCTCCCTTTTATCTCATAGTTCATCTATTGAGTCCCTTTCTCCAGGGGGTGATTTATTTGGATTGGGCATCTTTAAAAATGGCAGTGACAGCCTCCAGCGAAGCACTTCTTTAGAAAGTTGGTTGACTTCCTATAAAAGCAATGAAGATCTCTTTAGCTGTCACAGCTCTGGGGATATAAGCGTGAGCAGTGGCTCAGTTGGTGAACTAAGTAAAAGAACATTAGATCTCCTGAATCGTTTGGAGAATATCCAGAGCCCCTCAGAGCAAAAGATAAAACGAAGTGTTTCTGATATCACTCTTCAAAGCAGTTCCCAAAAGATGTCCTTTACTGGCCAGATGTCATTGGACATAGCATCTTCTATCAATGAAGACTCAGCGGCATCTCTAACAGAACTTAGCAGCAGTGACGAGCTCTCTCTTTGCTCAGAGGATATTGTGTTACACAAGAACAAGATCCCGGAATCGAATGCATCGTTCAGGAAGCGTCTGACTCGTTCAGTGGCTGATGAAAGCGATGTCAATGTCAGCATGATTGTTAATGTCTCTTGCACCTCTGCTTGCACTGATGATGAAGATGACAGCGACCTGCTCTCCAGCTCTACCCTTACCTTGACTGAAGAAGAGCTGTGCATCAAAGATGAGGATGACGACTCCAGTATTGCAACAGATGATGAAATTTATGAAGACTGCACCTTGATGTCAGGGCTAGACTACATAAAGAATGAATTACAGACCTGGATTAGGCCAAAATTGTCTTTGACAAGAGATAAGAAAAGGTGCAATGTCAGTGATGAGATGAAGGGCAGTAAAGATATAAGTAGCAGTGAGATGACCAATCCCTCTGATACTCTGAATATTGAGACCCTTCTAAATGGCTCTGTAAAACGTGTCTCTGAAAATAATGGAAATGGTAAGAATTCATCTCATACCCATGAGTTAGGGACAAAGCGTGAAAATAAGAAAACTATTTTCAAAGTTAATAAAGATCCATATGTGGCTGACATGGAAAATGGCAATATTGAAGGTATTCCAGAAAGGCAAAAGGGAAAACCGAATGTGACTTCAAAGGTATCAGAAAATCTTGGTTCACATGGGAAAGAGATTTCAGAGAGTGAGCATTGTAAGTGTAAAGCACTTATGGATAGTTTAGATGATTCAAATACTGCTGGCAAGGAATTTGTTTCCCAAGATGTTAGACATCTTCCAAAGAAATGTCCAAATCACCACCATTTTGAAAATCAAAGCACTGCCTCTACTCCCACTGAGAAGTCTTTCTCAGAACTGGCTTTAGAAACCAGGTTTAACAACAGACAAGACTCTGATGCACTGAAATCATCTGATGATGCACCGAGTATGGCTGGAAAATCTGCTGGTTGTTGCCTAGCACTTGAACAAAACGGAACAGAGGAAAATGCTTCTATCAGCAACATTTCCTGTTGCAACTGTGAGCCAGATGTTTTCCATCAAAAAGATGCCGAAGATTGTTCAGTACACAACTTTGTTAAGGAAATCATTGACATGGCTTCGACAGCCCTAAAAAGTAAATCTCAACCTGAAAACGAGGTGGCTGCTCCTACTTCATTAACTCAAATCAAGGAGAAAGTGTTGGAGCATTCTCACCGGCCCATCCAGCTGAGAAAAGGGGACTTTTATTCGTACTTATCTCTCTCATCTCATGACAGTGATTGTGGGGAGGTCACCAATTACATAGAAGAGAAAAGCAGCACTCCATTGCCACTAGACACCACTGACTCGGGCTTAGATGACAAGGAAGATATTGAATGCTTTTTTGAGGCCTGTGTTGAGGGTGACTCTGATGGAGAGGAGCCTTGTTTCTCTAGTGCTCCTCCAAATGAATCTGCAGTTCCCAGCGAAGCTGCAATGCCACTACAAGCAACAGCATGTTCTTCTGAGTTCAGTGATAGTTCTCTTTCAGCTGATGATGCAGATACAGTGGCTCTTTCAAGTCCTTCCTCTCAGGAAAGAGCTGAGGTTGGAAAGGAAGTGAATGGTTTGCCCCAAACTTCCAGTGGCTGTGCAGAAAACTTAGAGTTTACTCCTTCAAAGCTTGACAGTGAAAAGGAAAGTTCCGGAAAACCAGGTGAATCTGGAATGCCAGAAGAACATAATGCTGCTTCAGCCAAATCTAAAGTTCAAGACCTCTCCTTGAAGGCAAATCAGCCAACAGACAAGGCCGCATTGCATCCCAGCCCCAAAACTTTAACCTGTGAAGAAAATCTTCTAAACCTTCATGAAAAACGACATAGAAATATGCATAGGTAGAATGTACCCCCTCCCCAAGCATGAAAATCATCTCACTGAAAG___ATACGCCTGGCTGCAACTCAGGGGTGGCCTCATCCTCCCGCCCTGGGCTGGCCTCTGGTTCCATCACGTTTGTCACTGCCGTTTATTACATTGACTTCTCCCAAGATGAATCTTCCTTCCAAATGTGTTTTCTCCACACAAGCCTTGTGATCTGAATGTGTGCGCTGGTTCTCTTTAGGTGATCGTCTTTGAAGTTCAGCAAAGCTGCTTGTTCTCCCATGGATTCCTGTCCCAAGCTACCTCTACCAACCCTCTCTCTCCAGCTAGACTTTTCTCTTTGCCTCCTCCCTTCCCTTCCACTCTTTAAAGTTCTGCAGTTCACCAACTGGTAGTCCATTAAATTCTCCTGTCTAGAATGACCCCCCCACCAGTACTTGACCAATTTCATGTATCAATCTGGATTTTTTTTTAACGGTATAATGACTGTGTTTATTGAAAGAGTTTTACCTAAAAAGCCAACATTTGAATTGGTTGCAGCATAGAGAAGAAACACTGGTCCTTCTTTCAAAATTAAGCAACTATTAAAAGCGCCATTTTATTTATTTCATTTAAAAAATAATCTATGCAGCATTTCAAGAAACAACCATATGGTGTTGTATATTATAAACTGGTGACATTCTACTATTGAATTATGTACAACATTTTCATTTTTTATGCTTCTTGAGGTGGTAATGAGAAAAAAGTTTTTTAAAAAAGTGTGCCTTGCTGTATTTCTTATACCATTTATTAAAAAGCTGCTTTCACGGTAAAATTATGTTGGTTTGAAAGGAGGAAATAGCAAGGTTAAGATGTGTGAATAATTTCTGTATATATGTATAACCAAGTACAAACATTGATGTATAATGACAGTATAAAATGCTTTCATGTTTGTGATGTCTAGTGATGTGGAAAATATAAGCCTTAAATCCATTAGATTGCATGGTAATTAAAATTGGCATAATAAACACAGATTATTGGGGGAAAAGGAAAATTAGTGATCTCTTCTACTATGTTCTTTACCAAATTGTTGCATCTGGTTCTGAAAAAGTATAGCATGTAGCAGCTTCCAAACATATTCATATTGCTTAAGAGGCTTAACATTACCTAAACTAGAGACTAGACGTAAAGCCTTCAGTTTTCAAAATCTTTCTGGTCACTATAAAGATCTTGGAACAGCAAATGATTAAATGTCAGTTCCCCTAAACCAATAAACATTTATACTAGATTTTTTATTTCCACTTATCATTAATGATTTAATGTTGGATTTCAGGTACCTTGTATGTCTTAATTTATTTTAAATATTTATTTTGAATGAGTTTGATAGAAAGCTAGTAGAAAAGTACAGAAAATTTGACTATTATTTATAGATTTCAGGTATATTTATATGTGTAAAAGAAATTGACAAAGAAATATTTCATCTGGCCTTTACTGACTCCTGTTAAATGCAGTTTTAAATTTATATCGTAACACCTACTTAAGTGCCTGACACAGTAGGTATTCAATAAAAATTTACTGAATTAAAGGATTAAATTAGGTGACATGGTGACATCTATCCCTTTATTTTGACACTAAAACATGGACACAACTAGAAAGAGGTACAATGCAATATAAAGTCACAATAGATAATATATATCAAATTTCTAAAAGGTAAAGAATGTTGTGGGTTCATGCAGTCACAGGAATGACAATCATTCAACAGATAGTTCAGAAACACTTTTTATCTGCAAGGCACTATTCTAGATCCAGAAGATGCAATGTTGAACAAACAGACAAAGCCCTGCCCTCAGAAGGCTGTCCTGCATTAGGAACAAGTGAACACGCAAATGACATGAAGTATTTGTTGCAGAGCTGAGGAACAGAGCAAATGTAGTGATAGAAGCGCAATGAGAGAAGCAGCAGTGGGTACAAGGAGGAAGAAAAAGGGCTTGCAGAGAGTGGAAAGTTAGTGGAATATTCATGAAACTTCATTGCAGGGGTAATAGAAGAAAAAGTAAATTGGGAGGACTTAATGGAAGGTCTTTTAAAAAGTTAACTTGGAGCTTCTGTATGTAAAATGCTAGGTAATAAGGACACTTTGTACAGGCTGTTTTGCACCTGATTTTATTTATCATTAGTGCCACGCCAAGATCATTTAGACGATGCTTATCTGTAATTCTACCACTTTAATAACTATTTGTATTTTTATGCCCCTTCTGATCTTTTCCATATGTATTTCTAAATGGATAAATTATTCTAGGCTTCTTAATAGGTAGTAATTTGTTCAAAAGCGGTTTTAGCCAGACATCTAGTTGCAGTGTTCAAGAGGATTATGGGGGAAAGAGATTAGAGATAATTGTCTAGTTAGGGGGCAGCTGGAGAAAATAAGCTAAGTTTGCAATAACAGAGTACACAAGTATAGTGGCCCAGGATGTAGTGAAAGAACAAATCCTAGAGTCTTTGAAATTTCTAAGGGCATTCTAGACCTCTGTTGGGATATGGTATTATTTTACATACTGACACAACCTAAATTTTCTTTGGGTAGTAACTAATGTCAAGTCTACATCGACTGGTAAAACATTCAAAGAACAAACTGACAATGATGTTCTACCTACTTGTTACATGCTCATGGAAGACCGTGCAGTATTGAAAGTATTTGTTAATTATCTGCTTAGTATTAACACTAAATTTGTAGAATGACTTTCAGGTTTGTTGAACAATGCCTTTTCAGGTTGGAAGAAGAAAAATAGCCTCAATCTCCCACCCCATGTAGGCACTACCTCCCCAATTACCCTTAGAAAATGATCACACCAACTCTGCCTACACACTTCCAGTGATAGTGGCTCATTGTCTGTTAAGGCAAACTGTTCCACTGTTGGGCATATCTCTTTGTTAGAAAGTTCTTTCTTAGGTTGCTAAAATCTGCCTAGTACCCCGCTACCCTGTTCTGTCTTATGGAGCAGCCCAGATTATCTTTACTCCCTCTTTCTCATGGCAACCCTGAAGATAATCAAGGCCAGTTACTCATCATCTCCCAACCACTGTTTCCTCAACTGCCCTTCATATGTCATGGTTTTCAGATCCATTCCAACCTGACTGAATGTTAACAGACAGAATTCTTCACATTAAGGAACTGTCTTCATCATCATACATGTAGAAAAGAATCTGAACATTTAAGTGCGAAGTTTTCTCTAGAAATATATTCAAGATATGTTTATTCTATTATTGTAAATTTCAAACAATAAATAAATAAGAATCCATGACTTCCTTCAGTGGCCCAGTCCAGTGCCTAAGTCATCTGGAATCTTCTCCTTACATCGAATACAAACCTAACCTGTTTCCAAGTAGGGCACTCCCTCCGCTTATTTATTCATTTATTCAGCCATTCAGCAAACATTTATTAAATGGCTACCTATGTGAGGCACTATATTTGGCATTAGGTATATAAAGGCAACTAACACATGGTATCTGTCTCCAAAGGTTTACAGCTTTTCTTCTGAAAGTGCCTTTTGTGTCCTTGAATAGAGTGATTATGACTTTTGTCTCAATTAAATGATGACCTCATTTAGTTTCTGATGAAGTTTCTCTACATTTAAGAAAATCTAGTGAGCAAAACGGTATACAAAAAATCATCTGGATCTGACTACCAGAAAAAGTAAAGTGGTTTTAATTACAGAAAGAAAAATATTTGTTAGATTTCTGGTCACTGAATAAATATGCATCTTATACAACACAGAACAACCTAAATTTAGGGCTTCTGGAAACCTGAGTTTGATGACTTTGTTGTGTTTGGTTCATCCGGACTAGGTTTCACCCATTCTATAATTCCTAGAAACAAACTAGATGAAAATATCAATGAAATGATCCAGGTCTGTCTTACAAGTCAATTTGCTTTAGCTTCCAAAAGAAGTTGAAATTTTTTAGAATTTTAAAGAAAAACTCACTTTTCAAGTGTCATATAATTCTTATATTTTAAATATAAATCGAACCAACTAAATTTACCGCTATATTTTTTTCTACATATTCTTTTTTCAATTTTCATTTTGAAAAAATTCAGACCTATGTAAAAGTTGAGAGTAGAACAAAGATACTTGGTACTCATCCCTCAGGTTCATTTATTGTTAATATTTCACCATATTTACTTCATCTCTGTATACACACACACTTTTTTGTATGATTAAATCATTTGAAATTAAATTGTAGAGTATGATACTTCATCTGCAAATACTTCAGCATGTGTTAGCTGAGAACATGGGTATTCTTCTGCAAGTCTACAATACCATCTTCATACTCAAGAAATGTAACATTGGCTGGTCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGTGTGGATCACCTAAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAGCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAAGAAGAGTGAAATTTTGTCTCAAAAAAAAAAATGTAATATTAATACAATAATACCTGATAGTTTATATTCAAGTTTCTCTAACTACCCAAATTATGTCCTCTTATAGTTGTTTTTGTTTTAATACAGTATTCAAACAAAGATCACACACTGCTTTTAGTTTCCAAGTCTTTTTTTTTTTTTTTTTTTTTAAATCTTGCATAGTTTCCCTGTGCTTTTACTCTATTTTTCTTTGGGCTTTTATAACATCGACAGTTCTGAAAAGTCCAGGCCAGTTTTGCAGAATGATCCACAATCTTGATGGGTCTAGTTGTTTTCTCATTGTTAAACTCAGGGTAAACTTTTTTTTGTCAAGTAAATACATAGGTGACTTTGCATTCACAGCCACTCTTTAATGAAGATTGATTGAATAACTGACATTCCTGATATGTTTTAAAGTTCACAGCTTACTCTTTCAGCCCATGCTTCATCCATCTAAGGCAAGGGTCAGCAAACTGTGGCACGTGGGCCAAATTCAGCTCGTTGCCTGTTCTGGTTTGACCCATTTGAACAATTGACGAGCTTCAAACAATTTTTACATTTTTTAGTAGTTAAACAAAAGAATACTTCATGACATGTGAAAATCATATGAAATTTAAATTTTGGTGTCCATGTATAAAGTTTTATTAGAACACATCCACGCACATTTGTTTCCATAGTCTACGGATGCTTTGACACTATACAAAGTTACGTACTTGCAACAAAAGCCATATGGCCTGCAAAACCTAAAACATTTACTATCTGGATCATTACAGAAAGTTTTCTGATCCCTGGTCTATGATATTCTAAATTCCGACACATTTTCTTAGGATAGATTTCCATTTGCAAATTCAGTGTAAGACATAAACACCGGCAATAGTTGTGTTTTTTTTTTCTTTTTACTTCCTAGATTTTATTGCATTCTCAACTTGTTTCATATTACCTTAAAAAATAAAGTGCACTTAAAGATTGTTTCACATCCACAGTTTGTTTAAGGATTTAAATTTAGTTCACTATTACTGCCTGGCTTTGATTGATTTAGAGGGTTAGTCAATTACAGACTAAATAATTAGTTCAATCAAAACCATCAGAAAAATTGACACAAACTCACTTCCATGCACCAGTAAACTGGAATCCTTTCTTTAAATGTTTTTCTAAAGCAATCCGAGGAATTAAATTCAGGCCATTTCACAGTCAGTTTTTTTCAAATTCATTTTTCAACTCAAAGGCAAAACCATGATCAAAATATTGTATATAGTACACCTTCAGTTCCCAACTGCTGAATTTACCAAGGAATTAAGTATTCACCACAAACCCTGGTGTGGCCATAGGTGGACACTCTAATTAAAAAGAAGATGTTCAAAAAGAATAGTCCTTCTTTTCTTTCTTAAATTCACCTTTGATAGCACTGCCACACTTCTGGGAAGGGAACGTTCAAGGAAACCGTATAGCCACTTCTTTTTTAAAAGCAGCCACATACCTTCTATATAACAATGGCCCTTTAGTTTGAGAGTTGCCACATATTTGCATTTCCAGAGTAAAATAATAGGATGACATGGGCAGGTCAGGCCCACAATAGTATGGTTTCTTTGGCAAAGGCATTTTGGCCAATGCCGTAAGACCATTCTGGCCCTTGATTAATGGGTTCTCACCAAAGCAGAAATTACGCAGAGCTTATTTGTCCTTGCATTTTGAAGTAAATCATTGCCTGCATAAAGCAACTCTTTTGTCTCTTTTCCATTGCAACACACAGGAGTTGGAATGTGTTCATACGTGTAAGACTGTCTTAGTCTGCCCAGACTGCTTGGACTGTGTTGTTTATAAACAACAGAATTTACTGCTCAAAGTTCTGGAGACTGGGAAGTTCAAGATCAAGATGCTAGCAGATTCAGTGTCTGAGGAGGGCTCACTTTCTGTTTCATTGATGCACCTTACTGCATCCTCATCTGGTGGAAGGGGCAGTGAACAAGCTCCCTTGGGCCCCTTTTACGAAAGCACTAATTCCATTCATGAAGACTTCACAACTTAATCACCTCCCAAAGGCTCCATCTCTTAATACGATCACATTGGGGATTAGGTTTCAACATACCAATTTTGGGGGTACACAAATATTGAGGTGATAGACACTTCCAGGCTTTTGCCAAACATTAGTAAACAATTTCCAGTGAATACTCTGCCCCATTCTCTCCTACTCAAGCAGAGTATCTTAAGGCAGCAGATTGGAGTGACGTTACTTTAAGGGTAACTTTGAAGCCAATCTAATTCATACTCAAAAAAGTATTCCAAAATTTTGGTACTCTATTATGGGTTACAAACCCCTTGTGACACCATATTTAAGAGCCACTGCTATTGAGGCTTGCACTCTCTTGCTTGAAATGAGGTGCTCCCAAACCTGGGAGATGGCTCCCAAAGAACAAGAGAATCAACCCCATCGTGCATTTATGTGCTGCCCCAGGTAATCCACAGGCACAAAGAACTTGAGCTTCCTGGTGTGTTCTTCAGAAAAAAAGGAATTCAAAAAGCAAATGTAAAATGGAACAGAACTTGGCCTCAAAGTGATGTTGGAAAAATAGCCAGTCCTGATGACTTGGTCGAGGTAACTTGCTTTGCCCACTGTTAACTACAGAGCCATATGATAATGGAACATCAAGGTTTTCCAGATAAACCCAAAGCCTTTTGTGTCTATACCTTGTAACCTGTCATGTTCATCAACGTTTTAGACTGTACCATTGCTCTTTCTCCCTTCTTTATTCATTTTATATGGGGACGTTTGACTAGGATCACCAGATGTAGATTTGGTAATTTTTCCATACCATTAAGATGTATGATAATGGATTTTATTAATTTAACACAAATGCATAAAAATATGATGTAATAAGAAACAATCCTGAAATTATTAAAACATTTCTTTGTCCTTACTTAAACCTAACCTGCCATTTTAAAAGACACCTAACTCTATAAACAAATGGGCCATTACAGACGTAAAACAAATATTATTCAGTGAAATTTATTCAAGGACTTAAAATGATTGAAGGCATTAGGAACATAAAAATGCATAAGATCCTCTTTTAAATCCCAATATTCCCTAACCACTGGTTTATAAAAAATACTCTAAGGTTTATAGAATTAGTTTGGTTCCGTTAGTTGATCAAGTTACTTACACTAAGTCAGCAATTCAAAACAAATAATTCCCTCTGTGTGTGTTTGTTTGCTTGCAAATATGTTTCATTTTAAAGTGTCTTTTTATATAGAAAGCCAAGTTGGTGGAATTTATCTTGTCATTAAAATGATGTGAAAATCAAA)$ MAAPVGPVKFWRPGTEGPGVSISEERQSLAENSGTTVVYNPYAALSIEQQRQKLPVFKLRNHILYLIENYQTVVIVGETGCGKSTQIPQYLAEAGWTAEGRVVGVTQPRRVAAVTVAGRVAEERGAVLGHEVGYCIRFDDCTDQLATRIKFLTDGMLVREMMVDPLLTKYSVIMLDEAHERTLYTDIAIGLLKKIQKKRGDLRLIVASATLDADKFRDFFNQNETSDPARDTCVILTVEGRTFPVDIFYLQSPVPDYIKSTVETVVKIHQTEGDGDVLAFLTGQEEVETVVSMLIEQARALARTGMKRHLRVLPMYAGLPSFEQMKVFERVSRSVRKVIVATNVAETSITISGIVYVIDCGFVKLRAYNPRTAIECLVVVPVSQASANQRAGRGGRSRSGKCYRLYTEEAFDKLPQSTVPEMQRSNLAPVILQLKALGIDNVLRFHFMSPPPAQSMVQALELLYALGGLDKDCRLTEPLGMRIAEFPLNPMFAKMLLESGNFGCSQEILSIAAMMQIQNIFVVPPNQKSHAIRVHRKFAVEEGDHLTMLNIYEAFIKHNKDSKWCQEHFLNYKGLVRAATVREQLKKLLVKFQVPRKSSEGDPDLVLRCIVSGFFANAARFHSTGAYRVIYNEVIQTSKYYMRDVTAIESAWLLELAPHFYQQGT|lfwkevrfrllhvnherdtfppevtgpgshgy* 11BR044 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 8 10 0 30 28 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGT)GGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR044 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 6 8 1 20 23 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismappers(1),mismatches(1) GAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGAC(GCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR044 ENSG00000137513.10 ENSG00000137513.10 -/- -/+ chr11:78528842 chr11:78496936 CDS/splice-site intron inversion/5'-5' 6 6 0 78 8 high out-of-frame . OB-fold_nucleic_acid_binding_domain(100%),tRNA_synthetases_class_II_(D__K_and_N)_(100%)| . . ENSG00000137513.10 ENSG00000137513.10 ENST00000281038.10 . upstream upstream . ^(GTAGCGTGATGACGTAAGCGGCGTTGGCGTGGTGTGGTAGGAGTGGTTGCGCGTGTTGCGGCCCGGGTTCTGTTCGTAGGTTTACAATTGTCGCGGGTAGTGGGGCGCCCCAGCTGCCAACTGCACGTGGTTTCTTTCTGGCGTTTGCCTAGTGTCCTGTCCATTCCGCCCCGTTGGGAAGTGGGAAGCGGAGAGGTTCTGTGGGGACAGAGCTGGGAGTCCTGAAGGAGAAAGCGCGCAGCCGAGGGGCTCTGGAGTGCCTTAGAGCAGAGCTGCGGCCGCGGAAGGGGAGCAGCTGAGAAAGGAGGGCCGCTGCAGGCGGGGTTCGAACCGTGGGGTCTGGGCTGCTCCCGCGGAGGGCCTGGGCGGACGCGGGATGCTGGGGGTCCGCTGCCTGCTGCGGTCCGTGCGCTTCTGTTCCTCCGCCCCCTTCCCCAAGCACAAACCTTCAGCCAAACTGAGCGTGCGGGACGCTCTCGGGGCTCAGAACGCGAGTGGGGAGCGCATTAAGATCCAG___GGATGGATTCGTTCTGTCCGATCCCAGAAGGAAGTCTTGTTCCTGCATGTAAATGATGGGTCATCTTTGGAAAGCCTTCAGGTTGTTGCAGATTCAGGCCTTGACAGTAG___AGAATTAAATTTTGGGAGTTCTGTGGAAGTACAAGGGCAGCTGATAAAAAGTCCATCCAAAAGGCAAAATGTGGAACTGAAGGCAGAAAAAATTAAAGTTATTGGAAATTGTGATGCCAAG___GATTTCCCCATCAAATATAAAGAGAGGCATCCTCTGGAGTATCTGCGACAATATCCTCACTTTAGGTGTAGGACTAACGTTCTGGGTTCTATATTGAGGATTCGCAGTGAAGCGACAGCTGCTATTCATTCTTTCTTTAAG___GACAGTG)GCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAA___CCTTCAGGCAAACTTAAGGTACCTGAGGAGAATTTCTTCAATGTTCCTGCTTTCTTAACTGTCTCAGGACAACTTCATCTAGAAGTGATGTCAGG|ACATGAAAGCCATTTGCAGCAAAGACTGAACCAACCAACATTTAAATAAAATCTGAGAACAAGGCCATTTCTAAAATAAGATACAAAACCAGGTGAAAGGCCAGTATTGCTCTGAGAAGAGACCAGGAGAAAAAGAAAACACTCGGCACTAAGAATCATTCTTGTGCCAAACTATGAAGAGAGGAAAGCTATATAAGGA MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSGLDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLGSILRIRSEATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEPSGKLKVPEENFFNVPAFLTVSGQLHLEVMSg|heshlqqrlnqptfk* 11BR044 ENSG00000261349.1(604),ENSG00000187010.21(4699) ENSG00000117616.18 ./- -/- chr1:25267740 chr1:25247029 intergenic 5'UTR/splice-site deletion/read-through 2 9 0 19 145 high . . |Arginine/Serine-Rich_protein_1(100%) . . . ENSG00000117616.18 . ENST00000243189.12 upstream downstream . CAGCTGGACGTCGGGAGTGCTAGTTTGGAGTACGCCATTTGAGAGTAGGCGTGAGAAGTTGCTCTGTGTGCTGAGCGTTCTAAAGGAAGcCGTCCGTTGGCCTTCGTACCCGTCTTGATTGAG|GAAGTCCTGAGTTGAGGCTTGCGGGATCCTTTCCGGAGAAAGCGCAGGCTAAAGCCGCAGGTGAAGATGTCCAACTACGTGAACGACATGTGGCCGGGCTCGCCGCAGGAGAAGGATTCGCCCTCGACCTCGCGGTCGGGCGGGTCCAGCCGGCTGTCGTCGCGGTCTAGGAGCCGCTCTTTTTCCAGAAGCTCTCGGTCCCATTCCCGCGTCTCGAGCCGGTTTTCGTCCAGG(AGTCGGAGGAGCAAGTCCAGGTCCCGTTCCCGAAGGCGCCACCAGCGGAAGTACAGGCGCTACTCGCGGTCATACTCGCGGAGCCGGTCGCGATCCCGCAGCCGCCGTTACCGAGAGAGGCGCTACGGGTTCACCAGGAGATACTACCGGTCTCCTTCGCGGTACCGGTCCCGGTCCCGTAGCAGGTCGCGCTCTCGGGGAAGGTCGTACTGCGGAAGGGCGTACGCGATCGCGCGGGGACAGCGCTACTACGGCTTTGGTCGCACAGTGTACCCGGAGGAGCACAGCAGATGGAGGGACAGATCCAGGACGAGGTCGCGGAGCAGAACCCCCTTTCGCTTAAGTGAAAAAG___ATCGAATGGAGCTGTTAGAAATAGCAAAAACCAATGCAGCGAAAGCTCTAGGAACAACCAACATTGACTTGCCAGCTAGTCTCAGAACTGTTCCTTCAGCCAAAGAAACAAGCCGTGGAATAGGTGTATCAAGTAATGGTGCAAAGCCTGAA___CTGTCGGAAAAGGTAACAGAAGATGGAACTCGAAATCCCAATGAAAAACCTACCCAGCAAAGAAGCATAGCTTTTAGCTCTAAT___AATTCTGTAGCAAAGCCAATACAAAAATCAGCTAAAGCTGCCACAGAAGAGGCATCTTCAAGATCACCAAAAATAGATCAGAAAAAAAGTCCATATGGACTGTGGATACCTATCTAAAAGAAGAAAACTGATGGCTAAGTTTGCATGAAAACTGCACTTTATTGCAAGTTAGTGTTTCTAGCATTATCCCATCCCTTTGAGCCATTCAGGGGTACTTGTGCATTTAAAAACCAACACAAAAAGATGTAAATACTTAACACTCAAATATTAACATTTTAGGTTTCTCTTGCAGATATGAGAGATAGCACAGATGGACCAAAGGTTATGCACAGGTGGGAGTCTTTTGTATATAGTTGTAAATATTGTCTTGGTTATGTAAAAATGAAATTTTTTAGACACAGTAATTGAACTGTATTCCTGTTTTGTATATTTAATAAATTTCTTGTTTTCATTCTTA)$ . 11BR044 ENSG00000090989.18 ENSG00000249831.2 +/+ +/- chr4:55864386 chr4:57723344 CDS/splice-site exon inversion/3'-3' 2 2 0 98 7 high out-of-frame . Exocyst_complex_component_SEC3_N-terminal_PIP2_binding_PH(100%)| . . ENSG00000090989.18 ENSG00000249831.2 ENST00000381295.7 . downstream downstream . ^(GAGTTTGTCACGTGCCCGGATATAGGAAGTGTTGGGGGAACGGCCGCTTCCCGTTCAACGCTTTATTGAGGGGCGTATCCTAGTGGCCCCCATCCGGTCTCCGTTTTGGAAGACCCGCCTCGGCACAGCCAGGCTCAGTCCGGCCTTGCGGTAAGCCTTCGGCCGCGGCTGCCCGGTAGTCCCGGCGGCGGCGGACAGACGAGCTGACAGGCACCAGGGTCTAAGGCGGCTCCTCAGTCCGGCTGCTGTCTCCACGCCTGGGGTCGGGCACCGCTCCTTCTGACCTTCCTTTCCCCGTTTGTCCCG___CTGAGAAAAGATGACAGCAATCAAGCATGCATTACAAAGAGACATTTTTACACCAAATGATGAACGCCTGCTGAGCATTGTGAATGTCTGCAAAGCAGGAAAAAAGAAAAAGAACTGTTTTTTATGTGCCACAG___TGACAACTGAACGCCCTGTGCAGGTTAAGGTGGTCAAAGTCAAGAAATCCGATAAGGGAGATTTCTACAAAAGGCAGATTGCATGGGCCCTTCGAGATCTTGCTGTGGTA)GATGCCAAAGATGCTATCAAA___GAAAATCCTGAATTTGATTTACACTTTGAAAAAATATATAAATGGGTTGCCAGCAGCACTGCTGAAAAGAATGCATTTATTTCATGCATTTGGAAATTGAATCAGCGATATCTCCGGAAGAAAATTGATTTTGTCAATGTTAGCTCACAGCTTTTGGAAG|AGCTCTTCAGGAAAATGGAACgTCAAAGTAAAAAGCATCTACTTTGGTGGAATTTTAGTCACCAACAGGGAGAAGTTCCGGTAG___GAGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCgCTGCcAGCTCTGCCTCCCAGGTTCATGC MTAIKHALQRDIFTPNDERLLSIVNVCKAGKKKKNCFLCATVTTERPVQVKVVKVKKSDKGDFYKRQIAWALRDLAVVDAKDAIKENPEFDLHFEKIYKWVASSTAEKNAFISCIWKLNQRYLRKKIDFVNVSSQLLE|elfrkmerqskkhllwwnfshqqgevpvggvslcrpgwsavarsqlaassasqvh 11BR044 ENSG00000103342.13 ENSG00000262117.5 -/- -/- chr16:11883015 chr16:11820297 CDS/splice-site exon/splice-site deletion/read-through 8 10 1 464 28 medium out-of-frame . Ataxin-2_C-terminal_region(100%),Elongation_factor_Tu_GTP_binding_domain(100%),Elongation_factor_Tu_domain_2(100%)| . . ENSG00000103342.13 ENSG00000262117.5 ENST00000434724.7 ENST00000573319.1 upstream downstream low_entropy(1),mismatches(1) ^(GCTCACACACACGAGGAGGAGGGTTGAGCTGCCGCCGCCGCCGCCTCTGTCGTCGTCGCGAGTGTGGAGTCGGGACTGGAGCTGCTGCCGCGGCGACGCCGGGGATCTTTGTCGCTAGCTCCCGGCCCTTCTGCCCCGCCGCCTTCCCTCAGTCAGCGTTGCCCACTCCTCTCCGGCCGGGCGCCCCTGCCTCCATTTCCCGCTCTCTGTCCACCACACACACGGCCCCCCCGATCATGGATCCGGGCAGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGGAGCAGCAGCGGCAGCAGCAGCAGCGACTCGGCGCCTGACTGCTGGGACCAGGCGGACATGGAAGCCCCCGGGCCGGGCCCTTGCGGCGGCGGCGGCTCCCTGGCGGCGGCGGCCGAGGCCCAGCGGGAGAACCTCAGCGCGGCCTTCAGCCGGCAACTCAACGTCAACGCCAAGCCCTTCGTGCCCAACGTCCACGCCGCCGAGTTCGTGCCGTCCTTCCTGCGGGGCCCGGCAGCGCCGCCACCCCCAGTTGGCGGCGCCGCCAATAACCACGGAGCCGGCAGCGGCGCGGGAGGCCGTGCGG___CACCTGTGGAATCCTCTCAAGAGGAACAGTCATTGTGTGAAG___GTTCAAATTCAGCTGTTAGCATGGAACTTTCAGAACCTATTG___TAGAAAATGGAGAGACAGAAATGTCTCCAGAAGAATCATGGGAGCACAAAGAAGAAATAAGTGAAGCAGAGCCAGGGGGTGGTTCCTTGGGAGATGGAAGGCCGCCAGAGGAAAGTGCCCATGAAATGATGGAGGAGGAAGAGGAAATCCCAAAACCTAAGTCTGTGGTTGCACCGCCAGGTGCTCCTAAGAAAGAGCATGTAAATGTAGTATTCATTGGGCACGTAG___ATGCTGGCAAGTCAACCATTGGAGGACAAATAAT___GTATTTGACTGGAATGGTTGACAAAAGGACGCTTGAAAAGTATGAAAGAGAAGCTAAAGAGAAAAACAGAGAAACTTG___GTACTTGTCTTGGGCCTTAGACACAAATCAGGAAGAACGAGACAAGGGTAAAACAGTAGAAGTGGGTCGTGCCTATTTTGAAACCGAAAAGAAGCATTTCACAATTCTAGATGCCCCTGGCCACAAGAGTTTTGTCCCAAATATGATTGGTGGTGCCTCTCAAGCTGATTTGGCTGTGCTG___GTAATCTCAGCCAGGAAAGGAGAGTTTGAAACTGGATTTGAAAAAGGAGGACAGACAAGAGAACATGCAATGTTGGCAAAGACAGCAGGTGTAAAACACCTAATTGTGCTAATTAATAAGATGGATGATCCAACAGTAAATTGGAGCAATGAGAG___A)TATGAAGAATGTAAGGAGAAACTAGTGCCATTTTTGAAAAAAGTTGGCTTCAATCCCAAAAAGGACATTCACTTTATGCCCTGCTCAGGACTTACTGGAGCAAATCTCAAAGAGCAGTCGGATTTCTGTCCTTGGTACAT___TGGATTACCGTTTATTCCATATCTGGATAATTTGCCGAACTTCAATAGATCAGTTGATGGACCAATCAGGCTGCCAATTGTGGATAAGTACAAG___GATATGGGCACTGTGGTCCTGGGAAAGCTGGAATCAGGATCTATTTGTAAAGGCCAGCAGCTTGTGATGATGCCAAACAAG|CAAAAAATCACCATGTACCAACCTATCCAAACTTATCCATGGATGAATCTATCCAGAAGACGGGAGTTCCGATGCTTGTCTTGCTCTGAATGTCTGCTTGTCACCTGCTTAGGGTTATCGACTGTGATTCTGGGACTCATTGTTGTTCTACAGGAC(CCCTCTGACTCTGTGGTTTTCTCTACTGGATTAACAATGATAGCCATAGGTGCTTTTTTTGTTGTCCTCACTGGAGTGACAGCCCTGTGTACGGTTACAGTCGACGAGAACTTGCAGAAAACCACGAGGCTAAGACTAGGAGTGATACGAAAAAGCGGAAGTCTCCAAGGAACTACAGAGCCTTCCATGACTCACTCAATAATCGCTAGCACCTCGCTGTAGTTGTACATTGAACCCTGGCATCTTCGTCTTTGGAACTAAGTCTCCTGAGCATTGTTTTTAAATAGAAATA)$ MDPGSGGGGGGGGGGGSSSGSSSSDSAPDCWDQADMEAPGPGPCGGGGSLAAAAEAQRENLSAAFSRQLNVNAKPFVPNVHAAEFVPSFLRGPAAPPPPVGGAANNHGAGSGAGGRAAPVESSQEEQSLCEGSNSAVSMELSEPIVENGETEMSPEESWEHKEEISEAEPGGGSLGDGRPPEESAHEMMEEEEEIPKPKSVVAPPGAPKKEHVNVVFIGHVDAGKSTIGGQIMYLTGMVDKRTLEKYEREAKEKNRETWYLSWALDTNQEERDKGKTVEVGRAYFETEKKHFTILDAPGHKSFVPNMIGGASQADLAVLVISARKGEFETGFEKGGQTREHAMLAKTAGVKHLIVLINKMDDPTVNWSNERYEECKEKLVPFLKKVGFNPKKDIHFMPCSGLTGANLKEQSDFCPWYIGLPFIPYLDNLPNFNRSVDGPIRLPIVDKYKDMGTVVLGKLESGSICKGQQLVMMPNK|qkitmyqpiqtypwmnlsrrrefrclscsecllvtclglstvilglivvlqdpsdsvvfstgltmiaigaffvvltgvtalctvtvdenlqkttrlrlgvirksgslqgttepsmthsiiastsl* 11BR044 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 6 4 0 162 16 medium out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGG)CAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCAT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR044 ENSG00000088876.13 ENSG00000146592.17 -/- +/- chr20:2500656 chr7:28303139 5'UTR/splice-site intron translocation/5'-5' 0 3 0 46 6 medium . . . . . ENSG00000088876.13 ENSG00000146592.17 ENST00000612935.4 . upstream downstream mismappers(1) ^(TGCGATTCGGGGCAGGGGCAGGCAGTGGGGGGACAGCCTGGAACCAGAACGCGAAACCCAGCCTCACG___GTCCAC)CTTCTCCAATCCCTGCCTGCTGGGAGAGGACGATCTCTTGAGAAAGGAAAGACTTCTGTGCTCCCGAGAACTTCCTATCtG|ATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCAGCACCTCCCAAGCTACAACTAATTCCAAGATTAGGACTAGCAATATAGACC . 11BR044 ENSG00000082068.9 ENSG00000248464.1(71427),ENSG00000249203.2(9683) +/+ ./+ chr5:37443372 chr5:44485416 CDS/splice-site intergenic deletion 3 0 0 85 0 medium out-of-frame . WD_domain__G-beta_repeat(100%)| . . ENSG00000082068.9 . ENST00000265107.9 . downstream upstream . ^(GCAGTTGTTTGGGCTGTCCCTGTGGCTGGTTCTGGGGTGTGCGGCCAGCCATGGAGCGCTCTGGGCCCAGCGAAG___TGACAGGCTCAGACGCGTCGGGACCGGACCCGCAGCTTGCGGTCACCATGGGCTTCACGGGGTTCG___GTAAAAAAGCTCGCACATTTGACTTGGAAGCAATGTTTGAACAAACTCGAAGGACAGCTGTGGAAAGAAGTCGCAAAACACTGG___AAGCAAGAGAAAAAGAGGAAGAAATGAACAGAGAGAAAGAATTAAGAAGACAAAATGAAGATATTGAGCCAACATCCTCAAGATCAAATGTGGTCAGAGATTGCTCCAAATCATCTTCCAG___GGATACGAGCAGCAGTGAAAGTGAACAGAGTTCTGACTCTTCTGATGATGAGTTAATTGGCCCTCCTTTACCCC)CTAAAATGGTAGGAAAACCAGTTAATTTTATGGAGGAAGATATCCTCGGTCCTTTACCTCCACCTCTTAATGAAGAAGAAGAAGAAGCAGAGGAAGAAGAAGAGGAAGAGGAGGAAGAGGAA___AATCCTGTTCACAAGATTCCTGACTCGCATGAGATAACGCTGAAGCATGGCACTAAAACA___GTGTCTGCTTTGGGTCTGGATCCCTCAGGTGCCCGTTTGGTGACAGGAGGATATGACTATGATGTTAAGTTTTGGGATTTTGCTGGAATGGATGCTTCTTTTAAGGCATTTCGATCCCTTCAGCCCTGTGAGTG|TTATATGGAGTACATGAGTGAAAGAATGTGCTGCACACCTTCTGTATGGCTTTGTGAAAGTCACGTAACTTCTTTG MERSGPSEVTGSDASGPDPQLAVTMGFTGFGKKARTFDLEAMFEQTRRTAVERSRKTLEAREKEEEMNREKELRRQNEDIEPTSSRSNVVRDCSKSSSRDTSSSESEQSSDSSDDELIGPPLPPKMVGKPVNFMEEDILGPLPPPLNEEEEEAEEEEEEEEEEENPVHKIPDSHEITLKHGTKTVSALGLDPSGARLVTGGYDYDVKFWDFAGMDASFKAFRSLQPCEc|ymeymsermcctpsvwlceshvts 11BR044 ENSG00000256566.1 ENSG00000146592.17 -/- +/- chr20:2500656 chr7:28303139 5'UTR/splice-site intron translocation/5'-5' 0 3 0 46 6 medium out-of-frame . . . . ENSG00000256566.1 ENSG00000146592.17 ENST00000461548.1 . upstream downstream mismappers(1) ^(GCCGAGATCCCGGGCACGCTGGCTCTG___GTCCAC)CTTCTCCAATCCCTGCCTGCTGGGAGAGGACGATCTCTTGAGAAAGGAAAGACTTCTGTGCTCCCGAGAACTTCCTATCtG|ATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCAGCACCTCCCAAGCTACAACTAATTCCAAGATTAGGACTAGCAATATAGACC 11BR044 ENSG00000165501.17 ENSG00000140403.12 +/+ +/+ chr14:49602388 chr15:78270604 CDS CDS translocation 1 0 1 76 61 medium out-of-frame . |DnaJ_C_terminal_domain(100%),DnaJ_central_domain(100%) . . ENSG00000165501.17 ENSG00000140403.12 ENST00000318317.8 ENST00000394855.7 downstream upstream . ^(CCGGGCGCGAGCCCGGATCCAGGTGGTCAGTCCCGGTACGCAACCACGGCGAGAACCCGGCCCTGCTAAGGGAGAAGGGAAGCCGTTTCCCGCGGGCTTCATACAGACACGGTGCTAAGACAGCCCGAGTCGCGGACCAGTCCAACAGGCAGGCAGATCAGTGGGCAGCCCGCGTGCGCGAGGACCCCGATGGCGGCGCCGGGTGGCGGGAAGGAGGAAGTTTCAAAGCCAGCTTGACGTGGTTGTGGCCGTTGGGCGAGATGAAGCTACACTGTGAGGTGGAGGTGATCAGCCGGCACTTGCCCGCCTTGGGGCTTAGGAACCGGGGCAAGGGCGTCCGAGCCGTGTTGAGCCTCTGTCAGCAGACTTCCAGGA)GTCAGCCGCCGGTCCGAGCCTTCCTGCTCATCTCCACCCTGAAGGACAAGCGCGGGACCCGCTATGAG___CTAAGGGAGAACATTGAGC|CAGCTTCTCTTCACCCATGGACATCTTTGACATGTTCTTTGGTGGTGGTGGACGGATGGCTAGAGAGAGAAGAG___GCAAGAATGTTGTA(CACCAGTTATCTGTAACTCTTGAAGATCTATATAATGGAGTCACGAAGAAATTGGCCCTCCAGAAAAATGTAATTTGTGAGAAATGTGAAG___GTGTTGGTGGGAAGAAGGGATCGGTGGAGAAGTGCCCGCTGTGCAAGGGGCGGGGGATGCAGATCCACATCCAGCAGATCGGGCCGGGCATGGTACAGCAGATCCAGACCGTGTGCATCGAGTGCAAGGGCCAGGGTGAGCGCATCAACCCCAAGGACCGCTGCGAGAGCTGCAGCGGGGCCAAGGTGATCCGTGAGAAGAAGATTATCGAGGTACATGTTGAAAAAG___GTATGAAAGATGGGCAAAAGATACTATTTCATGGAGAAGGAGATCAGGAGCCTGAGCTGGAGCCTGGTGATGTCATAATTGTGCTTGATCAGAAGGATCATAGTGTCTTTCAGAGACGAGGCCATGACTTGATCATGAAAATGAAAATTCAGCTTTCTGAAGCTCTTTGTGGCTTCAAGAAGACGATAAAAACATTGGACAATCGAATTCTTGTTATTACATCCAAAGCAG___GTGAGGTGATAAAGCACGGGGACCTGAGATGCGTGCGCGATGAAGGAATGCCCATCTACAAAGCACCCCTGGAAAAAGGGATTCTGATCATACAGTTTTTA___GTAATCTTTCCTGAAAAACACTGGCTTTCTCTGGAAAAGCTTCCTCAGCTGGAAGCTTTACTCCCTCCTCGACAGAAAGTGAGGATTACAGATGACATGGATCAGGTGGAGCTGAAGGAGTTTTGTCCCAATGAGCAGAACTGGCGTCAGCACAGGGAGGCCTACGAGGAGGACGAAGACGGGCCCCAGGCTGGAGTGCAGTGCCAGACGGCATGACGTGGTGCGGGGCAGCGTGGCCCCACCGGACTAGCACATGATGAATGTAAAGTTGGCACAATGAAAATGACATCGCTTTAATGGCCTTGTGTTTGGGATGTCCTGTGTATGTGTTCAGCATTCTTAATTGCTGAGTGTCTTTTTGGCTTTTCTTTTGGTTGTAACTTAAGTTATAGCTTAATTTATATTTAAATGTTTTAAGTATAAATCACCTCTAGTCTGCATATGGAATCTGTTCATTTCTATTTTCAGGATATACTTTTGAGATGTCAGTGATTGCACCAATACTTTGTGCTTCTAGTGGCTTTGCCATAATTCAGTGTCACCAATAAGGCACAGCCCAGTTAGCAGCTTAGCCCCCCTAGCAAACCCCAAGGCACAAAGTGGGCATCCTGACTCATCTCTAGGTCTGTGGTTTCTCCCCTCTTCCCTTGGCAGAGTTATTGAGGGCATGATCTCAGGGCTGCTAAGATAACATTTCTGAGGATTCTAGATGATCCTCTTAAAGAATAAAAGCACATCCGTGGATCGGACATGGCTGCATGTGCCTGCTTAACAGGGCCAACTTAGTTCCTACTGTTCTGTGCCCTTCAGTGGATGGAACGTGAGTGTCTGATCATCTCTCTTGGAAGTTTTCTGAACCTTCCAAGCTCTGTGGTGAGGACAAACCAGTGTTTGAATCATATGCTGATAACTGTTTGCCTGTGACCCTCACACCTTGTTCTTCAGGGTTTTAATGATTTTCTGTTGACAACTTTTGCAATGCTTTCCCACCAAAGTGCTTACTTGTAAAGAAAACTAAATCCTTCTGTGTCCCCGGCAGCCTCAGTGCAGCAACAGAAGCCAAGGGAGAATGCTGCTGGTTTGGCCCATGGCACAGCCAGCTTCTCTGACCAGTAATCCGGGGTGACTTGAGGGTCTGCAAAGGCATAGAACTCCCCAGTGTTTTCCACCTCATTCTCCCAGATTGAGCTCCCTTCCAAAGGATCGTTCCTCTCATTGCACAGCCATATTACAAAGGGTTTCCTGCTCAAGTGATGTTTTGGTAAGAACTTCGCTGAGTTCCACTGTGGATTACAGTTTGTATGGACTACTACTGTAAATTATAGCTTGTTTGGAGGGATATTAGTCATTATTTTATTCATGACAGGTAGACTACAATTCGAACTTAGGGTTACCTCAGTCTTTAGCCATTACTGCTTATTTCTTTTCCCCAAGTCACAAAAAACTTGTAAGCTGCTGGGTTAAAGCAGAGGCCACCTGTCAGATCTACCCTACCCTTATTTGGTTACATGGCACCTGAGAGTTTCACTCAGACCAGGGATCTTCCTTAGGAGGGTCAAAGTGCAGATCAGACCATGCAGGTAAGGTGAACCAGCTGCACGGACCAGGTTCCCGCAAAACATTGCCAGCTAGTGAGGCATAATTTGCTCAAAGTATAGAAACAGCCCACCTGTGCCCACTTTGACCATTGGTGAGGATAGATATAAAATCACTTCTTCCAACGAAGCCTAGGTGAAAATCTATTTATAAATGGACCACAACTCTGGGGTGTCGTTTTTGTGCTGTGACTTCCTAATTATTGCTAAAGAACTACTGTTTAGTTGGTAATGGTGTAAAATTACATTCAGCTCCTTCTTGTCATATAAAAGGAATTTGGAGGGTGTCGCTTAAAATTTTATTCCACCTGTACATTTGTCACTTTAAAATTAAAATTGAGCTGGTATGAGAGATAA)$ MKLHCEVEVISRHLPALGLRNRGKGVRAVLSLCQQTSRSQPPVRAFLLISTLKDKRGTRYELRENIE|paslhpwtsltcslvvvdgwlereearmlytsyl* 11BR047 ENSG00000133872.14 ENSG00000157168.20 -/- +/+ chr8:30082847 chr8:32595828 CDS/splice-site CDS/splice-site inversion 152 249 23 2017 825 high . . |EGF-like_domain(100%),Immunoglobulin_I-set_domain(100%),Neuregulin_family(100%) . . ENSG00000133872.14 ENSG00000157168.20 ENST00000545648.2 ENST00000356819.7 upstream upstream duplicates(72),low_entropy(1),mismatches(3) ^(CACACCGCCTCGCCCCGCCCCAAGCCGCGCTGTGCTCCAGGGGCGGGGGCCCACGGCGGCCACTCACTGAGCCCCACGGGCCGCAGCGGCAGTGACGTAGG)GTTGGCGCACGGATCCGTTGCGGCTGCAGCTCTGCAGTCGGGCCGTTCCTTCGCCGCCGCCAGGGGTAGCGGTGTAGCTGCGCAGCGTCGCGCGCGCTACCGCACCCAGGTTCGGCCCGTAGGCGTCTGGCAGCCCGGCGCCATCTTCATCGAGCGCCATGGCCGCAGCCTGCGGGCCGGGAGCGGCCGGGTACTGCTTGCTCCTCGGCTTGCATTTGTTTCTGCTGACCGCGGGCCCTGCCCTGGGCTGGAACGACCCTG|CCTTGCCTCCCCaATTGAAAGAGATGAAAAGCCAGGAATCGGCTGCAGGTTCCAAACTAGTCCTTCGGTGTGAAACCAGTTCTGAATACTCCTCTCTCAGATTCAAGTGGTTCAAGAATGGGAATGAATTGAATCGAAAAAACAAACCACAAAATATCAAGATACAAAAAAAGCCAGG___GAAGTCAGAACTTCGCATTAACAAAGCATCACTGGCTGATTCTGGAGAGTATATGTGCAAAGTGATCAGCAAATTAGGAAATGACAGTGCCTCTGCCAATATCACCATCGTGGAATCAAACG___AGATCATCACTGGTATGCCAGCCTCAACTGAAGGAGCATATGTGTCTTCAG___AGTCTCCCATTAGAATATCAGTATCCACAGAAGGAGCAAATACTTCTTCAT___CTACATCTACATCCACCAC(TGGGACAAGCCATCTTGTAAAATGTGCGGAGAAGGAGAAAACTTTCTGTGTGAATGGAGGGGAGTGCTTCATGGTGAAAGACCTTTCAAACCCCTCGAGATACTTGTGCAA___GTGCCCAAATGAGTTTACTGGTGATCGCTGCCAAAACTACGTAATGGCCAGCTTCTACA___AGGCGGAGGAGCTGTACCAGAAGAGAGTGCTGACCATAACCGGCATCTGCATCGCCCTCCTTGTGGTCGGCATCATGTGTGTGGTGGCCTACTGCAAAACCAA___GAAACAGCGGAAAAAGCTGCATGACCGTCTTCGGCAGAGCCTTCGGTCTGAACGAAACAATATGATGAACATTGCCAATGGGCCTCACCATCCTAACCCACCCCCCGAGAATGTCCAGCTGGTGAAT___CAATACGTATCTAAAAACGTCATCTCCAGTGAGCATATTGTTGAGAGAGAAGCAGAGACATCCTTTTCCACCAGTCACTATACTTCCACAGCCCATCACTCCACTACTGTCACCCAGACTCCTAGCCACAG___CTGGAGCAACGGACACACTGAAAGCATCCTTTCCGAAAGCCACTCTGTAATCGTGATGTCATCCGTAGAAAACAGTAGGCACAGCAGCCCAACTGGGGGCCCAAGAGGACGTCTTAATGGCACAGGAGGCCCTCGTGAATGTAACAGCTTCCTCAGGCATGCCAGAGAAACCCCTGATTCCTACCGAGACTCTCCTCATAGTGAAAG___GTATGTGTCAGCCATGACCACCCCGGCTCGTATGTCACCTGTAGATTTCCACACGCCAAGCTCCCCCAAATCGCCCCCTTCGGAAATGTCTCCACCCGTGTCCAGCATGACGGTGTCCATGCCTTCCATGGCGGTCAGCCCCTTCATGGAAGAAGAGAGACCTCTACTTCTCGTGACACCACCAAGGCTGCGGGAGAAGAAGTTTGACCATCACCCTCAGCAGTTCAGCTCCTTCCACCACAACCCCGCGCATGACAGTAACAGCCTCCCTGCTAGCCCCTTGAGGATAGTGGAGGATGAGGAGTATGAAACGACCCAAGAGTACGAGCCAGCCCAAGAGCCTGTTAAGAAACTCGCCAATAGCCGGCGGGCCAAAAGAACCAAGCCCAATGGCCACATTGCTAACAGATTGGAAGTGGACAGCAACACAAGCTCCCAGAGCAGTAACTCAGAGAGTGAAACAGAAGATGAAAGAGTAGGTGAAGATACGCCTTTCCTGGGCATACAGAACCCCCTGGCAGCCAGTCTTGAGGCAACACCTGCCTTCCGCCTGGCTGACAGCAGGACTAACCCAGCAGGCCGCTTCTCGACACAGGAAGAAATCCAGGCCAGGCTGTCTAGTGTAATTGCTAACCAAGACCCTATTGCTGTATAAAACCTAAATAAACACATAGATTCACCTGTAAAACTTTATTTTATATAATAAAGTATTCCACCTTAAATTAAACAATTTATTTTATTTTAGCAGTTCTGCAAATAGAAAACAGGAAAAAAACTTTTATAAATTAAATATATGTATGTAAAAATGTGTTATGTGCCATATGTAGCAATTTTTTACAGTATTTCAAAACGAGAAAGATATCAATGGTGCCTTTATGTTATGTTATGTCGAGAGCAAGTTTTGTACAGTTACAGTGATTGCTTTTCCACAGTATTTCTGCAAAACCTCTCATAGATTCAGTTTTTGCTGGCTTCTTGTGCATTGCATTATGATGTTGACTGGATGTATGATTTGCAAGACTTGCAACTGTCCCTCTGTTTGCTTGTAGTAGCACCCGATCAGTATGTCTTGTAATGGCACATCCATCCAGATATGCCTCTCTTGTGTATGAAGTTTTCTTTGCTTTCAGAATATGAAATGAGTTGTGTCTACTCTGCCAGCCAAAGGTTTGCCTCATTGGGCTCTGAGATAATAGTAGATCCAACAGCATGCTACTATTAAATACAGCAAGAAACTGCATTAAGTAATGTTAAATATTAGGAAGAAAGTAATACTGTGATTTAAAAAAAACTATATTATTAATCAGAAGACAGCTTGCTCTTACTAAAAGGAGCTCTCATTTACTTTATTTGATTTTATTTTTCTTGACAAAAAGCAACAGTTTTAGGGATAGCTTAGAAAATGGGTTCTGGCTTGCTATCAGGGTAAATCTAACACCTTACAAGAGGACTGAGTGTCACTTTCTCTCTGGGGGAATGATCCAGCAGCTTATCTAGTTGACAATCAAAACACGGCTGATAAAGGTGCAATCATTTCTGACATGTATTTTTCACTGATTTTGAAGCTAGTGATTGGTTGTGTCTTCTTGGCTCAAAAAGAAGCATATTACGGCACAAAAAGCCCAGCCCAGACAGCACATGCAGCATTTTGTCTGAAATACTTCTAGAGTCAAACGTGCCTGCTGTACATAGCGATGACTTGTCATCATAGGGAAGTATTTCCATCGTAGAGTGTTCAGAAGGAGTGACTGTATAGGTGGAGAGAAGCTTAGTGACTCCGTTGAAATTTTAAAATGTGGATGACCACCCCTTTCTCCCCCTTATTTTTCTTTTATCTTTCCATGTTGCCTTGATCAGGTCATAACTATGCATGAACATTTTTTATCAGGAATGGCCGATGTGTATGTGATTTGTAATCACAAGTAATGATTCATCAGGAAATGTCAATCCTGTTGGAAAGATTGCACCTTTACTTGCAGAAGTGACCCCCACCTGTGTCCTGACCTCTCCATTTACAGGCTCTCTCACCCATTTCCCCCACCTCCTTTAATTTTTGCTTTACTGTCATAAAGTAGGACTAAGATTGGTCTAAGCATTGCATGTTCTTTTGTGATGGTAAATCCAAAGGAAGGCCTATAAGTATTAACATTTGAAATAACTGCTAATTCAGGAAAATGGAAGAAAAAAAATTATTTGAAACACAGAACCCATTTCATGGCCTGCCTGATATCTGTGAAATCAGGGCTGGAGCTTTACTTAGGATTCACATGGCCTCCTAGGAACCATGGGACAAATGGGAAACAGGTTATCGGGGGATTCATGAAGTCAGTGAGAGTAATTGCTTCTTTTTTGCGGGTGAACTGAATGTATTTCTTCACCAAATCTTGATGTTAACAATTAAAAAGAAGAAATGACATGCAAGTAGGTCTTAGCAGAAAAATGCAGGCTGGGCATGAGTCATGTTGTTACCCTCCCACATGCTCCTACAATCCACAGAGATGCCTGTCTGCAGGTTCTTGAAGTTATTGTTAGTATTTGGTATCTCAAATTTTTCGTCACTGTTCACATGCCACTTTCTCTGTGCACAGTGGTATCCTCATTTGCTTTTTAACCTACACTGAGGAGTCTTTGTCAGGTTGCACTGATTTTCCAATTCTGCAGTAATGAGTAAGCTCACGGCATGGGGAAGAAGACAGTCAGTCCAATGAAGTTCTCTAAATTATTTTAACATTGCCTTTGAAGGCCTTGACTCATCCTTAGCTATTTCAATGAAGAAATTCCTACCATGAATTTAAAACCCTAAAAATTCTGTTTCAAATTCTTTGGGCATTGGGGTACTCAGATATCCCATTGTGGAAGAATTTTAAGAATAAATAGAAGTTTCTGTTGAGAACCATGAGCAACATGTTTCTTACAATGAGAATTGCTATGCATTTTAAAATTGCAAATATATATGAAAATTGAAGACAAGAGGAAATTGTATTTCTAACTTGATTCTGATCACTCACAGAGGTGGCATATTATTATAGTTGGGACATCCTTTGCACCCTTCATAAAAAAGGCCAGCTGACTGCTCAGCATCACCTGCCAAGGCCACTAGATTTGTGTTTACAGGGGTATCTCTGTGATGCTTGTCACATCACTCTTGACCACCTCTGTTAATAAATTCCGACAGTGCAGTGGCGATCGGAGTGTGAACTTATGTTCCCAGCATATGGAAAGCTATCTTAGGTTTTAAGGTAGTAGAAATTGCCCAGGAGTTTGACAGCAACTTTGTTTCCCGGGTCTAAAATCGTATCCCACTGAGGTGTATGCAGTGGAGCATAATACATGCAAATACATGCAAAACTCCTTTTGTTTCACCTAAGATTCACTTTCTATCTTACTTTCCCTTCCTGCCTAGTGTGACTTTTGCCCCCAAGAGTGCCTGGACAGCATTCTAGTTTCTACAAAATGGTCCTCTGTGTAGGTGAATGTGTCCCAAACCTGCTATCACTTTCTTGTTTCAGTGTGACTGTCTTGTTAGAGGTGAAGTTTATCCAGGGTAACTTGCTCACTAACTATTCCTTTTTATGGCCTGGGGTTAAAGGGCGCATGGCTCACACTGGTGAAAATAAGGAAGGCCTGGTCTTATCTTGTATTAATAATACTGGCTGCATTCCACCAGCCAGAGATTTCTATCTGCGAAGACCTATGAAACACTGAAGAGAAATGTAGGCAGAAGGAAATGGCCACATATCACAAGTTCTATTATATATTCTTTTGTAAATACATATTGTATATTACTTGGATGTTTTCTTATATCATTTACTGTCTTTTTGAGTTAATGTCAGTTTTTACTCTCTCAACTTACTATGTAACATTGTAAATAACATAATGTCCTTTATTATTTATATTTAAGCATCTAACATATAGAGTTGTTTTCATATAAGTTTAAGATAAATGTCAAAAATATATGTTCTTTTGTTTTTCTTTGCTTTAAAATTATGTATCTTTTCCTTTTCTTTTTTTTAAGAATAATTTATTGTTCAGGAGAAAGAATGTATATGTAACTGAAACTATCTGAAGAATGCACATTGAAGGCCGTGAGGTACTGATAAACTAAAGAATTTATTATTCAAAATACTAAGCAATAAGTAATTGTGATTTATTTAAAGTTTTGTCCATTTTCCATGAAAGACATACTGCAATAAAAATGCTACTCTGTGGAGA)$ . 11BR047 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 17 10 0 37 30 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(2),mismatches(2) GACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGAC(AGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR047 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 9 0 185 61 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1),inconsistently_clipped(1),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGT)GAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR047 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 17 0 26 51 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(2) CGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAAC(GACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR047 ENSG00000121274.13 ENSG00000155393.13 +/+ +/+ chr16:50154259 chr16:50083937 CDS/splice-site CDS/splice-site duplication 11 6 2 133 52 high out-of-frame . . . . ENSG00000121274.13 ENSG00000155393.13 ENST00000436909.8 ENST00000299192.8 downstream upstream duplicates(1) ^(ACCTCCCACAACGCGCTCCCTGCGGGGCGGGCGGCAACCTCCATGCGGCCTCGTCCACGCTCAGCACCGGGGAAGCCGAGGCGGAGAAGCCGCGCGCGCCTCAGAAGCTCCCGGACGCCCAG___CGGCGGCGCGAGCGGCGGCGGCGGCAGCAGCAGCAGCAGCAGCACGGCCACCGGCGGGAGCGGCAGCAGCACCGGCAGCCCCGGCGGCGCGGCCTCGGCCCCGGCCCCGGCCCCGGCCGGCATGTATCGCTCCGGGGAGCGCCTGCTGGGCAGCCACGCGCTGCCCGCGGAGCAGCGGGACTTCCTGCCCCTAGAGACGACCAACAACAACAACAACCACCACCAGCCCGGGGCCTGGGCCCGCCGGGCGGGCTCCTCGGCGTCCTCGCCTCCCTCGGCGTCCT)CGTCCCCGCACCCTTCGGCCGCCGTCCCCGCCGCCGATCCAGCCGATTCGGCCTCGGGCAGCAGCAACAAGAGGAAGCGCGACAAtAAGGCCAGCACGTATGGACTCAACTACAGCCTGCTGCAGCCCAGCGGAGGGCGGGCCGCGGGGGGCGGCCGAGCAGACGGCGGCGGGGTCGTGTACAGCGGGACCCCGTGGAAACGGAGGAACTACAACCAGGGAGTCGTGGG|CCCACTGACAAGGAACTGAGAGAGACTATAGCATTGCTGACAGCCCAACAGACTGCTCTGGAAATTATTGTCAACATGTGCTGCAATGAAG___ATCCCTCTGATGACGAATGGGAAGAGCTTTCTAGCAGTGATGAAAGTGACGCATTTATGGAGAATTCCTTCAGTGAGTGCGGGGGACAGCTGTTTTCTC(CCCTCTGCCTCTCCCATGAAGTTCACACGGCTCTCACCAACTACCTCATCCCAAAGAAG___ATTTTTGAGAAAACTGCCTTTCCAAACAGCATTGCAGTTGACCTATGTTCTAGGAACCCTACTTGGAAACCTTTGATTAGAAA___AATGAACACTATTCAGTGCAGAGCCCTCTTCTGTCTCCAGAGTCTTGTGTCCCTCCTGGATGTGGAGCACCTGGGAGGAGCCGCAGCCCTTCAGACGCTTGCACAGCATCTGTCACAGCTGCTTTTTTCTCAACCAG___ATTTTGCTAAACATGTTGACTTTCTAGAAGCCATAAGTAGTGCTTTGAGGGCCCTTTTGCAAACAATGGCCTCCAAGAACATTTCCCAG___TGCATGACTCCTGATCAGCTGATGACATTATGCAAAGCAGGCATTCATAGTAGTAATGTCGGGGTTAGAGTGAATGTCGTTAGCATTTTAGGAATCACTGGCAGCGTCCTTGCCAAAGAAGATGGTACACTTGAAACTCTTAAG___AACATTGGGTGCTTTCTGCTTGAAGTTACCACCAAAGATCCTTCCCTTGTGGTAGCAGGAGAAGCTTTGGATGCCCTCTTTGATGTTTTTGCAGATGGTAAAGAAGCCGAAAGAGCCTCGATTCAAATTAAATTATTATCTGCTCTGAAAGAATTCCAGCCGGTCTTTAAAATGAAG___ATACGTAAAGAAGGGAGAGGTAACTATAGCACAGATCAGCTGTGTGTTCTTGACAATGTGAAAATGAATTTGCGAAGATTTATTGCTTATCAAGAAACTGTTGAGAAAAGACTGACTTCTTAAACAATCCAAAAAAGAAACCAGTTCTTCCCCCAAAGTATTCAATGCTTAGAATACTAAAAGGTTTTCTTTGAATGTATATGTTTCTGAAAGTCATTTTTTAATGATTACATTCTGTACATTCTGTAAAAACTTCAAAACCTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCACCTTGGGAGACCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCGCATGCATAAGCATGGTGGCACATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGGAGGAGAGTCGGTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAGGGAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAACTTCAAAACCTGTCAGAAACTCTGTTGCTGGTTTTTTTGTGTGTGTGTTTTGTTTGTTTGTTTTGTTTTGTTGTTTTTTTCTTTTTTGAGATGGAGTCTCACTGCTGCCCAGGCTGTATTACAGTGCTGCGATCTTGGCTTACTGCAACCTCTGCCATTCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACCACCACACCTTGTTTTTGTTTTTGGTTTTTTGGTTTGTTTTTTTTTTTCAGTAGAGACGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGATCCGCCTGCCCTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCAGAAACTCTTTTTTAAGTGATGAGATCTGTGTGGCATTTCTAGCGCTCTCTAAATTATGTCTCTGGCATATTTTAATCACTGGAAACTCAAAGAGTGGAAGAGTGGAAGTGCGAAGGAATCTCAGGTAGCTCTTAACTAATTCGCCAGCAGTGAAGAAACTTCAACCAATCATGTTTTCCTTGAATTTTGCAAAGAAAGAAAATCCAAAGCATTGCTTGGATGTTCTTTTAAGGCATTTTATATCAGTTGAACCTTAAACTGAAATATGAAGACAAGCTTTATAAACTAGTTTTTTGATATGAAGTATATCAATTATGTTTGCCTTTTGTGAAGAAGTAAATGAGTTGAATTTCTATTTCACTTACTAGATTATACTAATGAGCTAATGGGGTCATTGCCATCCTCCCTACTCATGACTTTGATGAGTTATTGCTGTAACATCACTTCTTGATTTAATTTGATATGGAATCAGAATTGGGAGAAGGTATTTTTAAATAAACAACTTTTTAATGGAAAGTTTTGTGTCTTACAAAATCTTTTTTAAGATACCAAATAAAGGGTTATTAGTAGAAAATGAGATGATACTATTCGTGGATATTTGTTTGCTAATGCATATTGCTTGGAATATATGTGAGACATTAAAAAAATGACAGCACGACTTTGCAGCATTACCTCTCAGTGTCTTCGAAGTACTAGGTGACAGCTGGGGCTCGAGGGAGTTTCCCTGTGCATCATTGTCTCGGCTGGGCCTCTGAACCGGCTTCATTGTCCATCCGTTTGCCTGATGAGAAGGGAAATTTGAAAATTTCTGTACAGTTGATCTCAGTTGCCCTGACAAAAGGCCCAATCCCCAGTACAGGACTTAATTTTAATTCACTGCTTCCACAGCAGCACAAAATGAGCTAGTAGTGTTAGATTTCATCTGCACTGTGATGTATTTTACAGTTTTCACCTATATGATATAGACTGTTGGGAAACCAAGATTGTTTCCCAGCCCTAAGAGTTCCTAGCCCATGGCACCAAGTAAAATAACCCAAATTGTGTATATGGTGGGAAAACAGAAATGTATACCATATACAACACCTCGCTTTATTATGGTCCTTGCTCATGAATTTTAAGGTATATATGTATGTTTAGTGATCATTTCAGCTAAATGATTGGCCCAAGCATGTCTCCTTGGAGAACGACTCTTCCAAAAAAGAAAGTATTAGAGTTCTCTCTGCCTCAATTATTTATAAAATATAATTATTTTCAAGGAGAAAAAAGTTCCTCATTCTGTTTATTCTTCCCCACAGTTTCTGACCTATAAACAATATCCAGGATATTTAGCACAGGACCTAGTATATAGTCGACTCTTCATAAATATTTGTTGAGTAAATAAATGCTGGTGATTTTCTCGTT)$ MRPRPRSAPGKPRRRSRARLRSSRTPSGGASGGGGSSSSSSTATGGSGSSTGSPGGAASAPAPAPAGMYRSGERLLGSHALPAEQRDFLPLETTNNNNNHHQPGAWARRAGSSASSPPSASSSPHPSAAVPAADPADSASGSSNKRKRDNKASTYGLNYSLLQPSGGRAAGGGRADGGGVVYSGTPWKRRNYNQGVVg|pltrn* 11BR047 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 8 6 0 18 20 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream duplicates(1),low_entropy(1) CGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCC(ACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11BR047 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 8 0 74 26 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___G)GGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR047 ENSG00000253270.1(68252),ENSG00000104613.12(60230) ENSG00000147408.14 ./- -/- chr8:19757186 chr8:19601865 intergenic 5'UTR/splice-site deletion/read-through 3 7 0 9 15 high . . |Chondroitin_N-acetylgalactosaminyltransferase(100%) . . . ENSG00000147408.14 . ENST00000522854.5 upstream downstream . GTCCGCGGCGGCCGCGCAGGAGGGAAAGTTCAGCGACGGCGGCAGCGGCCGGAGCCGGGCCGGGCAGCTAGCAGGGCGCTTCGG|CTGCCTTCCTATTTCAAGGAAAGACGCCAAGGTAATTTTGACCCAGAGGAGCAATGATGTAGCCACCTCCTAACCTTCCCTTCTTGAACCCCCAG___GTCCCCTCTTGCTGTTGGCTGCA(CATCAGGAAGGCTGTGATGGGAATGAAGGTGAAAACTTGGAGATTTCACTTCAGTCATTGCTTCTGCCTGCAAGATCATCCTTTAAAAGTAGAGAAGCTGCTCTGTGTGGTGGTTAACTCCAAGAGGCAGAACTCGTTCTAGAAGGAAATGGATGCAAGCAGCTCCGGGGGCCCCAAACGCATGCTTCCTGTGGTCTAGCCCAGGGAAGCCCTTCCGTGGGGGCCCCGGCTTTGAGGGATGCCACCGGTTCTGGACGCATGGCTGATTCCTGAATGATGATGGTTCGCCGGGGGCTGCTTGCGTGGATTTCCCGGGTGGTGGTTTTGCTGGTGCTCCTCTGCTGTGCTATCTCTGTCCTGTACATGTTGGCCTGCACCCCAAAAGGTGACGAGGAGCAGCTGGCACTGCCCAGGGCCAACAGCCCCACGGGGAAGGAGGGGTACCAGGCCGTCCTTCAGGAGTGGGAGGAGCAGCACCGCAACTACGTGAGCAGCCTGAAGCGGCAGATCGCACAGCTCAAGGAGGAGCTGCAGGAGAGGAGTGAGCAGCTCAGGAATGGGCAGTACCAAGCCAGCGATGCTGCTGGCCTGGGTCTGGACAGGAGCCCCCCAGAGAAAACCCAGGCCGACCTCCTGGCCTTCCTGCACTCGCAGGTGGACAAGGCAGAGGTGAATGCTGGCGTCAAGCTGGCCACAGAGTATGCAGCAGTGCCTTTCGATAGCTTTACTCTACAGAAGGTGTACCAGCTGGAGACTGGCCTTACCCGCCACCCCGAGGAGAAGCCTGTGAGGAAGGACAAGCGGGATGAGTTGGTGGAAGCCATTGAATCAGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCAATCACCGTCCTTACACGGCCTCTGATTTCATAGAAG___GGATCTACCGAACAGAAAGGGACAAAGGGACATTGTATGAGCTCACCTTCAAAGGGGACCACAAACACGAATTCAAACGGCTCATCTTATTTCGACCATTCGGCCCCATCATGAAAGTGAAAAATGAAAAGCTCAACATGGCCAACACGCTTATCAATGTTATCGTGCCTCTAGCAAAAAGGGTGGACAAGTTCCGGCAGTTCATGCAGAATTTCAG___GGAGATGTGCATTGAGCAGGATGGGAGAGTCCATCTCACTGTTGTTTACTTTGGGAAAGAAGAAATAAATGAAGTCAAAGGAATACTTGAAAACACTTCCAA___AGCTGCCAACTTCAGGAACTTTACCTTCATCCAGCTGAATGGAGAATTTTCTCGGGGAAAGGGACTTGATGTTGGAGCCCGCTTCTGGAAGGGAAGCAACGTCCTTCTCTTTTTCTGTGATGTGGACATCTACTTCACATCTGAATTCCTCAATACGTGTAGGCTGAATACACAGCCAG___GGAAGAAGGTATTTTATCCAGTTCTTTTCAGTCAGTACAATCCTGGCATAATATACGGCCACCATGATGCAGTCCCTCCCTTGGAACAGCAGCTG___GTCATAAAGAAGGAAACTGGATTTTGGAGAGACTTTGGATTTGGGATGACGTGTCAGTATCGGTCAGACTTCATCAATATAG___GTGGGTTTGATCTGGACATCAAAGGCTGGGGCGGAGAGGATGTGCACCTTTATCGCAAGTATCTCCACAGCAACCTCATAGTGGTACGGACGCCTGTGCGAGGACTCTTCCACCTCTGGCATGAGAAGCGCTGCATGGACGAGCTGACCCCCGAGCAGTACAAGATGTGCATGCAGTCCAAGGCCATGAACGAGGCATCCCACGGCCAGCTGGGCATGCTGGTGTTCAGGCACGAGATAGAGGCTCACCTTCGCAAACAGAAACAGAAGACAAGTAGCAAAAAAACATGA)$ . 11BR047 ENSG00000165392.11 ENSG00000157168.20 +/+ +/+ chr8:31033973 chr8:31898762 5'UTR/splice-site intron deletion 1 6 0 43 9 high . . |EGF-like_domain(100%),Immunoglobulin_I-set_domain(100%),Neuregulin_family(100%) . . ENSG00000165392.11 ENSG00000157168.20 ENST00000298139.7 . downstream upstream . ^(GTGTACTGTGTGCGCCGGGGAGG)CGCCGGCTTGTACTCGGCAGCGCGGGAATAAAGTTTGCTGATTTGGTGTCTAGCCTGGATGCCTGGGTTGCAGGCCCTGCTTGTGGTGGCGCTCCACAGTCATCCGGCTGAAGAAGACCTGTTGGACTGGATCTTCTCGGG|GTAAAGATGATGGGACAGTGGCTGCCTATCTTCAGATAAAATAAAG___AGATGGGGTCTTGCTATGTTGCCCAGGCTGTTCTCGAATTCCTCACCTCAAGCAACCCTCCTGCCTCAGTCTGCCAAAGTGCTGGGATTACAGGTCTGTGCCACTGTGACTGGCCTCTGTAACTTCTTAATTCTGTCTGCA...AGTAGAGACAGGGTgTCACCATGTTGGCCAGGCTGGgCTTAAACTCCTAACCTCAGGTGATCCGCCCcCGTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGGGCCCAGCCAAGTGTTTTAATTTTTAAAAACTATTTGAC . 11BR047 ENSG00000129636.13 ENSG00000156687.11 -/- +/- chr16:47218868 chr8:35722375 CDS/splice-site CDS translocation/5'-5' 2 2 0 323 21 high out-of-frame . Repeat_domain_in_Vibrio__Colwellia__Bradyrhizobium_and_Shewanella(100%)| . . ENSG00000129636.13 ENSG00000156687.11 ENST00000320640.11 . upstream downstream . ^(GGGGGCTGAGGGGCTGCCATGGCGGCGGCGGGCCGGCTCCCGAGCTCCTGGGCCCTCTTCTCGCCGCTCCTCGCAGGGCTTGCACTACTGGGAGTCGGGCCGGTCCCAGCGCGGGCGCTGCACAACGTCACGGCCGAGCTCTTTGGGGCCGAGGCCTGGGGCACCCTTGCGGCTTTCGGGGACCTCAACTCCGACAAGCAGACGGATCTCTTCGTGCTGCGGGAAA___GAAATGACTTAATCGTCTTTTTGGCAGACCAGAATGCACCCTATTTTAAACCCAAAGTAAAGGTATCTTTCAA___GAATCACAGTGCATTGATAACAAGTGTAGTCCCTGGGGATTATGATGGAGATTCTCAAATGGATGTCCTTCTGACATATCTTCCCAAAAATTATGCCAAGAGTGAATTAGGAGCTGTTATCTTCTGGGGACAAAATCAAACATTAG___ATCCTAACAATATGACCATACTCAATAGGACTTTTCAAGATGAGCCACTAATTATGGA___TTTCAATGGTGATCTAATTCCTGATATTTTTGGTATCACAAATGAATCCAACCAGCCACAGATACTATTAGGAGG___GAATTTATCATGGCATCCAGCATTGACCACTACAAGTAAAATGCGAATTCCACATTCTCATGCATTTATTGATCTGACTGAAGATTTTACAGCAG___ATTTATTCCTGACGACATTGAATGCCACCACTAGTACCTTCCAGTTTGAAATATGGGAAAATTTG___GATGGAAACTTCTCTGTCAGTACTATATTGGAAAAACCTCAAAATATGATGGTGGTTGGACAGTCAGCATTTGCAGACTTTG___ATGGAGATGGACACATGGATCATTTACTGCCAGGCTGTGAAGATAAAAATTGCCAAAAGAGTACCATCTACTTAGTGAGATCTGGGATGAAGCAG___TGGGTTCCAGTCCTACAAGATTTCAGCAATAAGGGCACACTCTGGGGCTTTGTGCCATTTGTGGATGAACAGCAACCAACTGAAATACCAATTCCAATTACCCTTCATATTGGAGACTACAATATGGATGGCTATCCAGACGCTCTGGTCATACTAAAGAACACATCTGGAAG___CAACCAGCAGGCCTTTTTACTGGAGAACGTCCCTTGTAATAATGCAAGCTGTGAAGAGGCGCGTCGAATGTTTAAAGTCTACTGGGAGCTGACAGACCTAAATCAAATTAAGGATGCCATGGTTGCCACCTTCTTTGACATTTACGAAGAT___GGAATCTTGGACATTGTAGTGCTAAGTAAAGGATATACAAAGAATGATTTTGCCATTCATACACTAAAAAATAACTTTGAAGCAGATGCTTATTTTGTTAAAGTTATTG___TTCTTAGTGGTCTGTGTTCTAA)TGACTGTCCTCGTAAGATAACA___CCCTTTGGAGTGAATCAACCTGGACCTTATATCATGTATACAACTGTAGATGCAAATGGGTATCTGAAAAATGGATCAG|TTGAAGGTCTGGAAGCCACCTGTCAATGCAGAAGAGTCAATGACGTCCACGCCATAGTCACTCTGGCTCCGTCTGTAAAGGGTGACACCAATGACC...AGAACTACACAGATGATCACATTCTCATCCTCATAAAGAAAATCTATGAG___CTCTGCAGGAAGCATAAAATGAAGACAATGCAAAGGCCTCTCCCATAAGCAAGCCTGGGTACAACGAGCCTAAGCCAGTACCAACACCCC MAAAGRLPSSWALFSPLLAGLALLGVGPVPARALHNVTAELFGAEAWGTLAAFGDLNSDKQTDLFVLRERNDLIVFLADQNAPYFKPKVKVSFKNHSALITSVVPGDYDGDSQMDVLLTYLPKNYAKSELGAVIFWGQNQTLDPNNMTILNRTFQDEPLIMDFNGDLIPDIFGITNESNQPQILLGGNLSWHPALTTTSKMRIPHSHAFIDLTEDFTADLFLTTLNATTSTFQFEIWENLDGNFSVSTILEKPQNMMVVGQSAFADFDGDGHMDHLLPGCEDKNCQKSTIYLVRSGMKQWVPVLQDFSNKGTLWGFVPFVDEQQPTEIPIPITLHIGDYNMDGYPDALVILKNTSGSNQQAFLLENVPCNNASCEEARRMFKVYWELTDLNQIKDAMVATFFDIYEDGILDIVVLSKGYTKNDFAIHTLKNNFEADAYFVKVIVLSGLCSNDCPRKITPFGVNQPGPYIMYTTVDANGYLKNGS|vegleatcqcrrvndvhaivtlapsvkgdtnd 11BR047 ENSG00000083799.17 ENSG00000253182.1 +/+ +/+ chr16:50787852 chr8:29561621 CDS/splice-site intron translocation 2 1 0 59 115 high out-of-frame . CAP-Gly_domain(100%),Phosphorylation_region_of_CYLD__unstructured(100%),Ubiquitin_carboxyl-terminal_hydrolase(100%)| . . ENSG00000083799.17 ENSG00000253182.1 ENST00000427738.7 . downstream upstream . ^(AGTTTCCCCCTTTCTAGGGTGAGGATGGTTCTACACAGCCACCCGGAGTTCCTTAGTTGAAAGGTGCGCCCTGCTGTGACAG___CATGGACACCACGTTGCTGAAAACATGCTTTGGGACTGCCACTGAATTTATCTTTTGCGGTTTTATGACAAAGTTATTAGTAGTTTCCCTTTTTTGAATTAGTATTTTGAAGTTAATATCACAATGAGTTCAGGCTTATGGAGCCAAGAAAAAGTCACTTCACCCTACTGGGAAGAGCGGATTTTTTACTTGCTTCTTCAAGAATGCAGCGTTACAGACAAACAAACACAAAAGCTCCTTAAAGTACCGAAGGGAAGTATAGGACAGTATATTCAAGATCGTTCTGTGGGGCATTCAAGGATTCCTTCTGCAAAAGGCAAGAAAAATCAGATTGGATTAAAAATTCTAGAGCAACCTCATGCAGTTCTCTTTGTTGATGAAAAGGATGTTGTAGAGATAAATGAAAAGTTCACAGAGTTACTTTTGGCAATTACCAATTGTGAGGAGAGGTTCAGCCTGTTTAAAAACAGAAACAGACTAAGTAAAGGCCTCCAAATAGACGTGGGCTGTCCTGTGAAAGTACAGCTGAGATCTGGGGAAGAAAAATTTCCTGGAGTTGTACGCTTCAGAGGACCCCTGTTAGCAGAGAGGACAGTCTCCGGAATATTCTTTGGAGTTGAATTGCTG___GAAGAAGGTCGTGGTCAAGGTTTCACTGACGGGGTGTACCAAGGGAAACAGCTTTTTCAGTGTGATGAAGATTGTGGCGTGTTTGTTGCATTGGACAAGCTAGAACTCATAGAAGATGATGACACTGCATTGGAAAGTGATTACGCAGGTCCTGGGGACACAATGCAGGTCGAACTTCCTCCTTTGGAAATAAACTCCAGAGTTTCTTTGAAGGTTGGAGAAACAATAGAATCTGGAACAGTTATATTCTGTGATGTTTTGCCAGGAAAAGAAAGCTTAGGATATTTTGTTGGTGTGGACATG___GATAACCCTATTGGCAACTGGGATGGAAGATTTGATGGAGTGCAGCTTTGTAGTTTTGCGTGTGTTGAAAGTACAATTCTATTGCACATCAATGATATCATCCCAG___CTTTATCAG___AGAGTGTGACGCAGGAAAGGAGGCCTCCCAAACTTGCCTTTATGTCAAGAGGTGTTGGGGACAAAGGTTCATCCAGTCATAATAAACCAAAGGCTACAG___GATCTACCTCAGACCCTGGAAATAGAAACAGATCTGAATTATTTTATACCTTAAATGGGTCTTCTGTTGACTCACAACCACAATCCAAATCAAAAAATACATGGTACATTGATGAAG___TTGCAGAAGACCCTGCAAAATCTCTTACAGAGATATCTACAGACTTTGACCGTTCTTCACCACCACTCCAGCCTCCTCCTGTGAACTCACTGACCACCGAGAACAGATTCCACTCTTTACCATTCAGTCTCACCAAGATGCCCAATACCAATGGAAGTATTGGCCACAGTCCACTTTCTCTGTCAGCCCAGTCTGTAATGGAAGAGCTAAACACTGCACCCGTCCAAGAGAGTCCACCCTTGGCCATGCCTCCTGGGAACTCACATGGTCTAGAAGTGGGCTCATTGGCTGAAGTTAAGGAGAACCCTCCTTTCTATGGGGTAATCCGTTGGATCGGTCAGCCACCAGGACTGAATGAAGTGCTCGCTGGACTGGAACTG___GAAGATGAGTGTGCAGGCTGTACGGATGGAACCTTCAGAGGCACTCGGTATTTCACCTGTGCCCTGAAGAAGGCGCTGTTTGTGAAACTGAAGAGCTGCAGGCCTGACTCTAGGTTTGCATCATTGCAGCCGGTTTCCAATCAGATTGAGCGCTGTAACTCTTTAG___CATTTGGAGGCTACTTAAGTGAAGTAGTAGAAGAAAATACTCCACCAAAAATGGAAAAAGAAGGCTTGGAGATAATGATTGGGAAGAAGAAAGGCATCCAGGGTCATTACAATTCTTGTTACTTAGACTCAACCTTATTCTG___CTTATTTGCTTTTAGTTCTGTTCTGGACACTGTGTTACTTAGACCCAAAGAAAAGAACGATGTAGAATATTATAGTGAAACCCAAGAGCTACTGAGGACAGAAATTGTTAATCCTCTGAGAAT___ATATGGATATGTGTGTGCCA)CAAAAATTATGAAACTGAGGAAAATACTTGAAAAGGTGGAGGCTGCATCAGGATTTACCTCTGAAGAAAAAG___ATCCTGAGGAATTCTTGAATATTCTGTTTCATCATATTTTAAGGGTAGAACCTTTGCTAAAAATAAG|CCCAGCACTTGGAATGATGCTGTCCCACAGAGGACACTCAGTAAATGCAGTGTCTGCGTCAATGACTAAAGAACCCAGAAACCCGC MSSGLWSQEKVTSPYWEERIFYLLLQECSVTDKQTQKLLKVPKGSIGQYIQDRSVGHSRIPSAKGKKNQIGLKILEQPHAVLFVDEKDVVEINEKFTELLLAITNCEERFSLFKNRNRLSKGLQIDVGCPVKVQLRSGEEKFPGVVRFRGPLLAERTVSGIFFGVELLEEGRGQGFTDGVYQGKQLFQCDEDCGVFVALDKLELIEDDDTALESDYAGPGDTMQVELPPLEINSRVSLKVGETIESGTVIFCDVLPGKESLGYFVGVDMDNPIGNWDGRFDGVQLCSFACVESTILLHINDIIPALSESVTQERRPPKLAFMSRGVGDKGSSSHNKPKATGSTSDPGNRNRSELFYTLNGSSVDSQPQSKSKNTWYIDEVAEDPAKSLTEISTDFDRSSPPLQPPPVNSLTTENRFHSLPFSLTKMPNTNGSIGHSPLSLSAQSVMEELNTAPVQESPPLAMPPGNSHGLEVGSLAEVKENPPFYGVIRWIGQPPGLNEVLAGLELEDECAGCTDGTFRGTRYFTCALKKALFVKLKSCRPDSRFASLQPVSNQIERCNSLAFGGYLSEVVEENTPPKMEKEGLEIMIGKKKGIQGHYNSCYLDSTLFCLFAFSSVLDTVLLRPKEKNDVEYYSETQELLRTEIVNPLRIYGYVCATKIMKLRKILEKVEAASGFTSEEKDPEEFLNILFHHILRVEPLLKIs|palgmmlshrghsvnavsasmtkeprnp 11BR047 ENSG00000160973.8(2278),ENSG00000160972.9(11903) ENSG00000160972.9 ./+ +/+ chr8:144478127 chr8:144490034 intergenic 5'UTR deletion/read-through 9 14 0 43 78 medium . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000160972.9 . ENST00000292539.8 downstream upstream duplicates(3),mismappers(1),mismatches(2) CGCGGGCCGGAAGTGTAGCGTTGCCATGGCGAGGGCCGGGcGCGGGGCCCGCCCCCGCAGCGCCTCAGGGAGCGCGGGGCCCACTGACCCGCGGAAGCCAGCGGACCCACTTGTGCGGCGGTCGGCGCGGGGCGCGAG|GTACTGGCACACGGATGAGGAGTCGTAGAAGAGGGGCCTGCAGATTGTGCTCTCAGCAAGCCTGTCGTCTAGTGGAAGACACTGGCCGGGACACAGAGCCCACGTGTGGACACCGCTGTGGGTTGGTGGCAGGGGTCGAGCAGGTGCCATCAGGCACATGAACGGTGGAG(TCTTCAAAG___GTGTGAGCAGCTGCTGGAAGAGGAGGTGCTCCTGAAGACACTGCGGCCGGCCCGCCTGTGCCCTTGGTGCCCTGGCTGCCTAGAGAGCCTCACCCCTGGGCCCTGGGGCCAGGACTCCAGGACTCTGACTACCTGCCCTCCCCCAGCCTCAGCGGCTGCACCTCCTCGTTAGTACTGATGCACTGACCTCGGCACACAGCTGGGAGGGGTTGGGGGCTGGGTCATGGCTGCTCCCAGGCCCCACCCAGGCTCCTGAGCCTAGAAGGTGAAAAGAGGACTCTCAGGGGCTCACAGGGGCTCTCACTGCTGGTTGGCCCTGCCCTCCCTTCCCCCTCAGCAGGGTGCCCGGAAGCTGGAACCTTGTTATCTGGGTAATTAGTTTCAGACCCTGCACTGAGGCCGGCCAGGTCTCGGGGCTGCCTCCCATAGGTTGTGCACCCTGACCCCGAGAGGGAGGCGAGGCGCTGCTTGTCGACAGCTAGAGGCTGGCCTGGGGAGCAGGTTTGGGGTGCCCTCCCACACTGCCCTCCCTGCCCCGGCCCATGCCCCCCAGGGCTGCCTGGGCCTGGTTATTGTGTGGGGCCTCCTGACCCAGCCAAGGGCACGAAGCTCTGGGAAGGGGATGCCCCCGAGGGTGCCAGTCCAGCTAGCTGCCCCACCCCTCAGGCCCAGCCTGGCCCCCAAGCTCCCCACTCTGGTGCCCCGAGCAGCCCTGTGGGCAAGCAGCCGCCGCCATGGCCGAGCACCTGGAGCTGCTGGCAGAGATGCCCATGGTGGGCAGGATGAGCACACAGGAGCGGCTGAAGCATGCCCAGAAGCGGCGCGCCCAGCAGGTGAAGATGTGGGCCCAGGCTGAGAAGGAGGCCCAGGGCAAGAAGGGTCCTGGGGAGCGTCCCCGGAAGGAGGCAGCCAGCCAAGGGCTCCTGAAGCAGGTCCTCTTCCCTCCCAGTGTTGTCCTTCTGGAGGCCGCTGCCCGAAATGACCTGGAAGAAG___TCCGCCAGTTCCTTGGGAGTGGGGTCAGCCCTGACTTGGCCAACGAGGACGGCCTGACGGCCCTGCACCAG___TGCTGCATTGATGATTTCCGAGAGATGGTGCAGCAGCTCCTGGAGGCTGGGGCCAACATCAATGCCTGTGACAGTGAGTGCTGGACGCCTCTGCATGCTGCGGCCACCTGCGGCCACCTGCACCTGGTGGAGCTGCTCATCGCCAG___TGGCGCCAATCTCCTGGCGGTCAACACCGACGGGAACATGCCCTATGACCTGTGTGATGATGAGCAGACGCTGGACTGCCTGGAGACTGCCATGGCCGACCGTG___GCATCACCCAGGACAGCATCGAGGCCGCCCGGGCCGTGCCAGAACTGCGCATGCTGGACGACATCCGGAGCCGGCTGCAGGCCGGGGCAGACCTCCATGCCCCCCTGGACCACGGGGCCACGCTG___CTGCACGTCGCAGCCGCCAACGGGTTCAGCGAGGCGGCTGCCCTGCTGCTGGAACACCGAGCCAGCCTGAGCGCTAAGGACCAAGACGGCTGGGAGCCGCTGCACGCCGCGGCCTACTGGGGCCAG___GTGCCCCTGGTGGAGCTGCTCGTGGCGCACGGGGCCGACCTGAACGCAAAGTCCCTGATGGACGAGACGCCCCTTG___ATGTGTGCGGGGACGAGGAGGTGCGGGCCAAGCTGCTGGAGCTGAAGCACAAGCACGACGCCCTCCTGCGCGCCCAGAGCCGCCAGCGCTCCTTGCTGCGCCGCCGCACCTCCAGCGCCGGCAGCCGCGG___GAAGGTGGTGAGGCGGGTGAGCCTAACCCAGCGCACCGACCTGTACCGCAAGCAGCACGCCCAGGAGGCCATCGTGTGGCAACAGCCGCCGCCCACCAGCCCGGAGCCGCCCGAGGACAACGATGACCGCCAGACAGGCGCAGAGCTCAGGCCGCCGCCCCCGGAG___GAGGACAACCCCGAAGTGGTCAGGCCGCACAATGGCCGAGTAGGGGGCTCCCCAGTGCGGCATCTATACTCCAAGCGACTAGACCGGAGTGTCTCCTACCAGCTGAGCCCCCTGGACAGCACCACCCCCCACACCCTGGTCCACGACAAGGCCCACCACACCCTGGCTGACCTGAAGCGCCAGCGAGCTGCTGCCAAGCTGCAGCGACCCCCACCTGAGGGGCCCGAGAGCCCTGAGACAGCTGAGCCTGGCCTGCCTGGTGACACGGTGACCCCCCAGCCTGACTGTGGCTTCAGGGCAGGCGGGGACCCACCCCTGCTCAAGCTCACAGCCCCGGCGGTGGAGGCTCCCGTGGAGAGGAGGCCGTGCTGCCTGCTCATGTGAGGCTGTTGCTCAGCATGCAGGGGCCCTGTCGCGGGCACAGCCCAAGGCTGCCTCCCCACGGTGCGTGCCCTGGTGCTGCGGGTGCAGCACGGAAACCCCGGCTTCTACTGTACAGGACACTGGCCCCTCTCAGGTCAGAAGACATGCCTGGAGGGATGTCTGGCTGCAAAGACTATTTTTATCCTGCAACTCTTGATAAAGGGCTGTTTTGCCATGGA)$ . 11BR047 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 7 3 0 17 486 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream . ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAG)GGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGG(ACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 11BR047 ENSG00000170325.14 ENSG00000254467.2(45995),ENSG00000166261.11(2350) -/- ./+ chr11:129955512 chr11:123721564 CDS/splice-site intergenic inversion 2 0 0 16 11 medium out-of-frame . . . . ENSG00000170325.14 . ENST00000358825.9 . upstream upstream . ^(ACTCTGCGGCGGGAAGAACCACCTGGAGGTGGCGGGGGGGGTTGATTTCTATCACCCCTAGGGAGAGAGGATCGGGGACCCGCTGATCTTCCAGCTCCCCTCACCCAACGTCGT___GCATGCTGCAGACAGACCTTTCCGTCCTTCATGAACACACGTGTGGTAGACAGATGACTGTCCTGTACCCTGTGCTGCTCTAGGTGTGCCAGACGTGGAGCTGTCCAGTTGGGAGAAGATGGATTCCAAAGATGAAAGCTCGCATGTGTGGCCGACATCTGCAGAGCATGAACAGAATGCCGCACAG___GTGCACTTTGTTCCGGACACAGGAACAGTGGCTCAGATTGTCTATACCGATGA)CCAGGTTCGCCCCCCACAGCAGGTGGTGTACACGGCAGATGGTGCCTCCTACACATCAGTGGATGGTCCAGAGCACACGCTGGTGTACATCCACCCGGTGGAAGCTGCACAG___ACTCTGTTTACAGACCCCGGCCAGGTAGCTTATGTCCAACAGGATGCTACAGCTCAGCAG|GGTTTACTCCTCATTGTTTGGATGGATTATTCAACTGCCCCACAGCTCTTTTGCCGTGGAACTGCTTCTCTGTAGACCTGTTGCCAAGATTCCGC MDSKDESSHVWPTSAEHEQNAAQVHFVPDTGTVAQIVYTDDQVRPPQQVVYTADGASYTSVDGPEHTLVYIHPVEAAQTLFTDPGQVAYVQQDATAQQ|glllivwmdystapqlfcrgtasl* 11BR049 ENSG00000108557.19 ENSG00000143418.19 +/+ -/- chr17:17724159 chr1:150969091 5'UTR/splice-site 5'UTR/splice-site translocation 12 14 2 79 557 high . . |Homeobox_domain(100%),TLC_domain(100%) . . ENSG00000108557.19 ENSG00000143418.19 ENST00000353383.6 ENST00000368954.9 downstream downstream . ^(GCATTCCTCGCGGCACCCGCGGACACCAGGCAGGCCCGGCCGGGTGCGCGGCCAAGGCCCGCTCCCCGCGTCCCCGGGCGCCGCCCCCGCCCGCGGCTGGGCTCCGAGAGACGAGTGGGAGAGCGAGTGCAGCGAGGGCGAGAGGCGAGCCGAGCAGGCCGCCCTGCCCGCGGCCCTAGCGCCGGCGCGAGGAGGGGGCGCCGCGGCCCACCCTCCTTCCTGCCTGGCCGCGGGCCGGCCGGGCCGCCGCGCCCCGACCCCCATGGCCACCCAGGCCTCCGGGCCGCGAAGTCGCAGCGCCAGACCCAAGGCCCCCGAGTGAGCGCGGGCGC)CGAG___GATCTCATCTGGCCACCGCGTTCTGGAAGAGGCGAGAGGGAGAGCGTGCGCGAGAGGAGAGAGACGGCGGGGGAAAGGGAGACGGCGAGACGCGCAGCGCCGGCGCCCGGGAGACCCAGGAGGAGCCCGCAG|GATGCTCCAGACCTTGTATGATTACTTCTGGTGGGAACGTCTGTGGCTGCCTGTGAACTTGACCTGGGCCGATCTAGAAGACCGAGATGGACGTGTCTACGCCAAAGCCTCAGATCTCTATATCACGCTGCCCCTGGCCTTGCTCTTCCTCATCGTTCGATACTTCTTTGAGCT___GTACGTGGCTACACCACTGGCTGCCCTCTTGAACATAAAGGAGAAAACTCGGC(TGCGGGCACCTCCCAACGCCACCTTGGAACATTTCTACCTGACCAGTGGCAAGCAGCCCAAGCAG___GTGGAAGTAGAGCTTTTGTCCCGGCAGAGCGGGCTCTCTGGCCGCCAGGTAGAGCGTTGGTTCCGTCGCCGCCGCAACCAGGACCGGCCCAGTCTCCTCAAGAAGTTCCGAGAAGCCAG___CTGGAGATTCACATTTTACCTGATTGCCTTCATTGCCGGCATGGCCGTCATTGTGGAT___AAACCCTGGTTCTATGACATGAAGAAAGTTTGGGAGGGATATCCCATACAG___AGCACTATCCCTTCCCAGTATTGGTACTACATGATTGAACTTTCCTTCTACTGGTCCCTGCTCTTCAGCATTGCCTCTGATGTCAAGCGAAAG___GATTTCAAGGAACAGATCATCCACCATGTGGCCACCATCATTCTCATCAGCTTTTCCTGGTTTGCCAATTACATCCGAGCTGGGACTCTAATCATGGCTCTGCATGACTCTTCCGATTACCTGCTGGAG___TCAGCCAAGATGTTTAACTACGCGGGATGGAAGAACACCTGCAACAACATCTTCATCGTCTTCGCCATTGTTTTTATCATCACCCGACTGGTCATCCTGCCCTTCTG___GATCCTGCATTGCACCCTGGTGTACCCACTGGAGCTCTATCCTGCCTTCTTTGGCTATTACTTCTTCAATTCCATGATGGGAGTTCTACAGCTGCTGCATATCTTCTGGGCCTACCTCATTTTGCGCATGGCCCACAAGTTCATAACTGGAAAG___CTGGTAGAAGATGAACGCAGTGACCGGGAAGAAACAGAGAGCTCAGAGGGGGAGGAGGCTGCAGCTGGGGGAGGAGCAAAGAGCCGGCCCCTAGCCAATGGCCACCCCATCCTCAATAACAACCATCGTAAGAATGACTGAACCATTACTCCAGCTGCCTCCCAGATTAATGCATAAAGCCAAGGAACTACCCCGCTCCCTGCGCTATAGGGTCACTTTAAGCTCTGGGGAAAAAGGAGAAAGTGAGAGGAGAGTTCTCTGCATCCTCCCTCCTTGCTTGTCACCCAGTTGCCTTTAAACCAAATTCTAACCAGCCTATCCCCAGGTAGGGGGACGTTGGTTATATTCTGTTAGAGGGGGACGGTCGTATTTTCCTCCCTACCCGCCAAGTCATCCTTTCTACTGCTTTTGAGGCCCTCCCTCAGCTCTCTGTGGGTAGGGGTTACAATTCACATTCCTTATTCTGAGAATTTGGCCCCAGCTGTTTGCCTTTGACTCCCTGACCTCCAGAGCCAGGGTTGTGCCTTATTGTCCCATCTGTGGGCCTCATTCTGCCAAAGCTGGACCAAGGCTAACCTTTCTAAGCTCCCTAACTTGGGCCAGAAACCAAAGCTGAGCTTTTAACTTTCTCCCTCTATGACACAAATGAATTGAGGGTAGGAGGAGGGTGCACATAACCCTTACCCTACCTCTGCCAAAAAGTGGGGGCTGTACTGGGGACTGCTCGGATGATCTTTCTTAGTGCTACTTCTTTCAGCTGTCCCTGTAGCGACAGGTCTAAGATCTGACTGCCTCCTCCTTTCTCTGGCCTCTTCCCCCTTCCCTCTTCTCTTCAGCTAGGCTAGCTGGTTTGGAGTAGAATGGCAACTAATTCTAATTTTTATTTATTAAATATTTGGGGTTTTGGTTTTAAAGCCAGAATTACGGCTAGCACCTAGCATTTCAGCAGAGGGACCATTTTAGACCAAAATGTACTGTTAATGGGTTTTTTTTAAAAATTAAAAGATTAAATAAAAAATATTAAATAAAACATGGCAATAAGTGTCAGACTATTAGGAATTGAGAAGGGGGATCAACTAAATAAACGAAGAGAGTCTTTCTTATGCCTTCCTTGCA)$ . 11BR049 ENSG00000108557.19 ENSG00000143418.19 +/+ -/- chr17:17724159 chr1:150969131 5'UTR/splice-site 5'UTR/splice-site translocation 1 0 3 79 28 high . . |Homeobox_domain(100%),TLC_domain(100%) . . ENSG00000108557.19 ENSG00000143418.19 ENST00000353383.6 ENST00000271688.10 downstream downstream . GATCTCATCTGGCCACCGCGTTCTGGAAGAGGCGAGAGGGAGAGCGTGCGCGAGAGGAGAGAGACGGCGGGGGAAAGGGAGACGGCGAGACGCGCAGCGCCGGCGCCCGGGAGACCCAGGAGGAGCCCGCAG|CTACTCCCTCTTGATGCCCTCCCCTTTGCCCCTCACTCAGGATGCTCCAGACCTTGTATGATTACTTCTGGTGGGAACGTCTGTGGCTGCCTGTGAACTTGACCTGGGCCGATCTAGAAGACCGAGATGGACGTGTCTACGCCAAAGCCTCAGATCTCTATATCACGCTGCCCCTGGCCTTGCTCTTCC(TCATCGTTCGATACTTCTTTGAGCT___GTACGTGGCTACACCACTGGCTGCCCTCTTGAACATAAAGGAGAAAACTCGGCTGCGGGCACCTCCCAACGCCACCTTGGAACATTTCTACCTGACCAGTGGCAAGCAGCCCAAGCAG___GTGGAAGTAGAGCTTTTGTCCCGGCAGAGCGGGCTCTCTGGCCGCCAGGTAGAGCGTTGGTTCCGTCGCCGCCGCAACCAGGACCGGCCCAGTCTCCTCAAGAAGTTCCGAGAAGCCAG___CTGGAGATTCACATTTTACCTGATTGCCTTCATTGCCGGCATGGCCGTCATTGTGGAT___AAACCCTGGTTCTATGACATGAAGAAAGTTTGGGAGGGATATCCCATACAG___AGCACTATCCCTTCCCAGTATTGGTACTACATGATTGAACTTTCCTTCTACTGGTCCCTGCTCTTCAGCATTGCCTCTGATGTCAAGCGAAAG___GATTTCAAGGAACAGATCATCCACCATGTGGCCACCATCATTCTCATCAGCTTTTCCTGGTTTGCCAATTACATCCGAGCTGGGACTCTAATCATGGCTCTGCATGACTCTTCCGATTACCTGCTGGAG___TCAGCCAAGATGTTTAACTACGCGGGATGGAAGAACACCTGCAACAACATCTTCATCGTCTTCGCCATTGTTTTTATCATCACCCGACTGGTCATCCTGCCCTTCTG___GATCCTGCATTGCACCCTGGTGTACCCACTGGAGCTCTATCCTGCCTTCTTTGGCTATTACTTCTTCAATTCCATGATGGGAGTTCTACAGCTGCTGCATATCTTCTGGGCCTACCTCATTTTGCGCATGGCCCACAAGTTCATAACTGGAAAG___CTGGTAGAAGATGAACGCAGTGACCGGGAAGAAACAGAGAGCTCAGAGGGGGAGGAGGCTGCAGCTGGGGGAGGAGCAAAGAGCCGGCCCCTAGCCAATGGCCACCCCATCCTCAATAACAACCATCGTAAGAATGACTGAACCATTACTCCAGCTGCCTCCCAGATTAATGCATAAAGCCAAGGAACTACCCCGCTCCCTGCGCTATAGGGTCACTTTAAGCTCTGGGGAAAAAGGAGAAAGTGAGAGGAGAGTTCTCTGCATCCTCCCTCCTTGCTTGTCACCCAGTTGCCTTTAAACCAAATTCTAACCAGCCTATCCCCAGGTAGGGGGACGTTGGTTATATTCTGTTAGAGGGGGACGGTCGTATTTTCCTCCCTACCCGCCAAGTCATCCTTTCTACTGCTTTTGAGGCCCTCCCTCAGCTCTCTGTGGGTAGGGGTTACAATTCACATTCCTTATTCTGAGAATTTGGCCCCAGCTGTTTGCCTTTGACTCCCTGACCTCCAGAGCCAGGGTTGTGCCTTATTGTCCCATCTGTGGGCCTCATTCTGCCAAAGCTGGACCAAGGCTAACCTTTCTAAGCTCCCTAACTTGGGCCAGAAACCAAAGCTGAGCTTTTAACTTTCTCCCTCTATGACACAAATGAATTGAGGGTAGGAGGAGGGTGCACATAACCCTTACCCTACCTCTGCCAAAAAGTGGGGGCTGTACTGGGGACTGCTCGGATGATCTTTCTTAGTGCTACTTCTTTCAGCTGTCCCTGTAGCGACAGGTCTAAGATCTGACTGCCTCCTCCTTTCTCTGGCCTCTTCCCCCTTCCCTCTTCTCTTCAGCTAGGCTAGCTGGTTTGGAGTAGAATGGCAACTAATTCTAATTTTTATTTATTAAATATTTGGGGTTTTGGTTTTAAAGCCAGAATTACGGCTAGCACCTAGCATTTCAGCAGAGGGACCATTTTAGACCAAAATGTACTGTTAATGGGTTTTTTTTAAAAATTAAAAGATTAAATAAAAAATATTAAATAAAACATGGCAATAAGTGTCAGACTATTAGGAATTGAGAAGGGGGATCAACTAAATAAACGAAGAGAGTCTTTCTTATGCCTTCCTTGCA)$ . 11BR049 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 15 0 25 30 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1) CCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAtCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAtACGACAAGAACGAG(GACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR049 ENSG00000173335.5 ENSG00000101435.5 -/- -/- chr20:23603621 chr20:23565037 CDS CDS/splice-site deletion/read-through 12 9 0 183 42 high in-frame . . . . ENSG00000173335.5 ENSG00000101435.5 ENST00000376971.4 ENST00000376979.4 upstream downstream duplicates(1),mismappers(4) ^(AGTGGACGCCAGGGATCTGAAGGGCAAAGGCAAGGGCTGCTGGAGCCTGCATCATGTCGAGTCCGCAGAGGAGGAAGGCTATGCCCTGGGCACTGTCACTGCTTCTCATGGGCTTCCAGCTCCTGGTGACTTATGCCTGGTGTTCTGAAGAGGAAATGGGTGGTAATAATAAAATAGT)CCAGGATCCTATGTTCCTCGCCACAGTGGAGTTTGCCTTGAACACTTTCAACGTGCAGAGCAAGGAGGAGCATGCCTACAGGCTGTTGCGCGTCCTGAGTTCATGGAGGGAGGATAGCATGGACAGAAAG___TGGCGAGGTAAGATGGTGTTCTCCATGAATCTGCAACTGCGCCAAACCGTATGTAGGAAATTTGAAGATGACATTGACAACTGCCCTTTTCAAGAAAGCCTGGAGCTGAACAAC|ACTTTCACCTGCTTCTTCACCATCAGCACCAGGCCCTGGATGACTCAGTTCAGCCTCCTGAACAAGACCTGCTTGGAGGGATTCCACTGAGTGAAACCCACTCACAGGCTTGTCCATGTGCTGCTCCCACATTCCGTGGACATCAGCACTACTCTCCTGAGGACTCTTCAGTGGCTGAGCAGCTTTGGACTTGTTTGTTATCCTATTTTGCATGTGTTTGAGATCTCAGATCAGTGTTTTAGAAAATCC(ACACATCTTGAGCCTAATCATGTAGTGTAGATCATTAAACATCAGCATTTTAAGAAA)$ MSSPQRRKAMPWALSLLLMGFQLLVTYAWCSEEEMGGNNKIVQDPMFLATVEFALNTFNVQSKEEHAYRLLRVLSSWREDSMDRKWRGKMVFSMNLQLRQTVCRKFEDDIDNCPFQESLELNN|TFTCFFTISTRPWMTQFSLLNKTCLEGFH* 11BR049 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 16 4 0 186 47 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAA)CTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR049 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 10 0 47 20 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCA)GTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR049 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 6 5 0 349 44 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream mismatches(1) ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATT)TTATGTCGAAGACTCTTGGCATTtGGAGACTGAAcAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGgCCCTGGGTTTCCGAATTGCCACTGGATTGCCT(CTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 11BR049 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 5 5 0 28 17 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1),mismatches(2) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACC)TGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGAC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyer 11BR049 ENSG00000111859.17 ENSG00000136631.15 -/- +/+ chr6:11213281 chr1:150068630 CDS/splice-site CDS/splice-site translocation 5 1 0 21 195 high in-frame . SH3_domain(100%),Variant_SH3_domain(100%)|Sec1_family(100%) . . ENSG00000111859.17 ENSG00000136631.15 ENST00000504387.5 ENST00000644510.2 upstream upstream . ^(ACACATACATATGCCACTCACATCCGACGTGTGTGGTTGCTCAGTAGGGAAATGCTTACAGCTGCCTCTAGAAGCAAGTCCGCTCGCTGCATGGAGAGGGAAACATGAGCATGCAGCAGGACTAGCTGTCACCTCCCGCCCGCCTGCCCAGAGAGGGCCAGAGCGTCGGGGAGGCAAGATGATCCACCAGCGGTTCCATCCTACACTTGG___ATTCAGTAAGCTGTGAGGTCCGTAATGTCAGACACTGGCAAACATCATATGTTCTTCAAGTAGAGTTATGAAAACGAAGAAACTGGTCAGAAGAGTAAAACGCCGGAATTGTCCTTTCCAACATCCAGAGCTGCATCATTCCTTGGGGCAAAATGTGGACAAGG___AATCTTATGGCAAGGGCCTTATATGACAATGTCCCAGAGTGTGCCGAGGAACTGGCCTTTCGCAAGG)GAGACATCCTGACCGTCATAGAGCAGAACACAGGGGGACTGGAAGGATGGTGGCTGTGCTCATTACACGGTCGGCAAGGCATTGTCCCAGGCAgCCGGGTGAAGCTTCTGATTGGTCCCATGCAGGAGACTGCCTCCAGTCACGAGCAGCCTGCCTCTGGACTGATGCAGCAGcCCTTTGGCCAACAGAAGCTCTATCAAGTGCCAAACCCACAGGCTGCTCCCCGAGACACCATCTACCAAGTGCCACCTTCCTACCAAAATCAGGGAATTTACCAAGTCCCCACTGGCCACGGCACCCAAGAACAAGAGGTATATCAGGTGCCACCATCAGTGCAGAGAAGCATTGGGGGAACCAGTGGGCCCCACGTGGGTAAAAAG|ACTGGCATAGTGAGTATGGTATACACACAATCGGAGATTCTACAGAAGGAAGTGTACCTCTTTGAACGCATTGATTCTCAAAATCGAGAGATCATGAAACAC(CTGAAGGCAATTTGTTTTCTTCGACCTACAAAG___GAGAATGTGGATTATATTATTCAGGAGCTCCGAAGACCCAAATACACTATATATTTCATTT___ATTTCAGTAATGTGATCAGCAAGAGTGACGTGAAGTCATTGGCTGAAGCTGATGAACAGGAAGTTGTGGCTGAGGTTCAG___GAATTTTATGGTGATTACATTGCTGTGAACCCACATTTGTTTTCCCTCAATATTTTGGGTTGCTGCCAG___GGTCGAAATTGGGATCCAGCCCAGCTATCTAGAACAACTCAAGGGCTTACAGCTCTCCTTTTATCTCTGAAGAAGTGTCCCATGATTCGTTATCAGCTCTCATCAGAGGCAGCAAAGAGACTTGCAGAGTGCGTTAAG___CAAGTGATAACTAAAGAATATGAACTGTTTGAATTCCGTCGGACAGAGGTTCCTCCATTGCTCCTTATTTTAGATCGCTGTGATGATGCCATCACCCCATTGCTAAACCAG___TGGACATATCAGGCCATGGTCCACGAACTACTAGGCATAAACAACAATCGGATTGATCTTTCCAGAGTGCCGGGAATCAGTAAAGACTTAAGAGAAGTGGTCCTATCTGCTGAAAATGATGAATTCTATGCTAAT___AATATGTACCTGAACTTTGCTGAGATTGGTAGCAATATAAAGAATCTCATGGAAGATTTTCAGAAGAAGAAACCAAAAGAACAGCAAAAACTAGAATCAATAGCAGACATGAAG___GCGTTTGTTGAGAATTATCCACAGTTCAAGAAAATGTCTGGGACTGTTTCAAAGCATGTGACAGTGGTTGGAGAACTGTCTCGATTGGTCAGTGAACGGAATCTGCTGGAGGTTTCAGAGGTTGAGCAAGAACTGGCCTGTCAAAATGACCATTCTAGTGCTCTCCAG___AATATAAAAAGGCTTCTGCAGAACCCCAAAGTGACAGAGTTTGATGCTGCCCGCCTGGTGATGCTTTATGCTTTACATTATGAGCGACACAGCAGCAATAGCCTGCCAGGACTAATGATGGACCTCAGGAATAAAGGTGTTTCTGAGAAGTATCGAAAG___CTCGTGTCTGCAGTTGTTGAATATGGTGGTAAACGAGTCAGAGGAAGTGACCTCTTCAGCCCCAAAGATGCTGTGGCTATCACCAAACAATTCCTCAAAGGACTGAAG___GGAGTAGAAAATGTATATACACAGCATCAACCTTTCCTACATGAAACCCTGGATCATCTCATCAAAGGAAGGCTTAAGGAAAACCTATATCCTTATTTAGGCCCCAGCACACTCAGAGACAG___ACCTCAGGATATCATTGTGTTTGTAATTGGAGGAGCCACCTATGAAGAGGCTCTAACAGTTTATAACCTGAACCGCACCACTCCTGGAGTGAGGATTGTCCTGGGAGGCACCACAGTGCACAACACGAAAAG___TTTCCTAGAGGAAGTTCTGGCTTCTGGACTGCACAGCCGAAGCAAGGAGAGCTCTCAAGTCACATCAAGGTCAGCGAGCAGAAGATGAAACGGTGGTTGGGGGAAGGGCACAGCTTCCTCTCTTGTCCCCACTACAGGTTTTCCCTACTAAACAAAGGTGTTGGAGAGCAGCTTTGGGTTCTGTGCTGGTTGTTAGAACTCATCTCCAGGTAGCCCACGGATACGTGGTTGGCACAGACACAAGACTCCCAGAGTTGTCCTAACAATAAGTCTGAGCCCATCTCAACCCACTTTTCTCCGGTAGTCTTTATGTATCTGTTAGCACAATCACTTCAGTTACTGATGAATTTTGTTGGGATCTGACTTGGGGAAAGGGTTATCAGAGCCTAGAGGGGCTTAAAAAGTAATCATTTGATGTACATACCACACTCCTTGGCTTCCTTTCTCTTCCCTTAACCCTTTCTGCTTTTCATTAACCACATTCCTGCACAACTCATTTCTGAAAACCTACCATGTTTCTTTACAGAGCCATCCAAAAATTTTTTGTCCCTACATAGCAATTTTCTGTGGCACTGAGAAACCATGTATGACCACAATAAAAATCCATTTTGTGAAAGGATA)$ MWTRNLMARALYDNVPECAEELAFRKGDILTVIEQNTGGLEGWWLCSLHGRQGIVPGsRVKLLIGPMQETASSHEQPASGLMQQpFGQQKLYQVPNPQAAPRDTIYQVPPSYQNQGIYQVPTGHGTQEQEVYQVPPSVQRSIGGTSGPHVGKK|TGIVSMVYTQSEILQKEVYLFERIDSQNREIMKHLKAICFLRPTKENVDYIIQELRRPKYTIYFIYFSNVISKSDVKSLAEADEQEVVAEVQEFYGDYIAVNPHLFSLNILGCCQGRNWDPAQLSRTTQGLTALLLSLKKCPMIRYQLSSEAAKRLAECVKQVITKEYELFEFRRTEVPPLLLILDRCDDAITPLLNQWTYQAMVHELLGINNNRIDLSRVPGISKDLREVVLSAENDEFYANNMYLNFAEIGSNIKNLMEDFQKKKPKEQQKLESIADMKAFVENYPQFKKMSGTVSKHVTVVGELSRLVSERNLLEVSEVEQELACQNDHSSALQNIKRLLQNPKVTEFDAARLVMLYALHYERHSSNSLPGLMMDLRNKGVSEKYRKLVSAVVEYGGKRVRGSDLFSPKDAVAITKQFLKGLKGVENVYTQHQPFLHETLDHLIKGRLKENLYPYLGPSTLRDRPQDIIVFVIGGATYEEALTVYNLNRTTPGVRIVLGGTTVHNTKSFLEEVLASGLHSRSKESSQVTSRSASRR* 11BR049 ENSG00000135090.14 ENSG00000285517.1 -/- +/+ chr12:118372648 chr12:30878672 5'UTR/splice-site exon/splice-site inversion 1 1 0 40 2 high . . . . . ENSG00000135090.14 ENSG00000285517.1 ENST00000392533.8 ENST00000648700.1 upstream upstream . ^(AGGAGCCGCACCTCGGACAGCAGCAGCGGCGGCGGCCGCGGGAGGGTCCTTGTGGCGCCGGGCGGCGGGGTCCTGCGTGGAGAGTGGGACGCAACGCCGAGACCGCGAGCAGAGGCTGCGCACAGCCGGATCCGGCA)CTCAGCGACCGGACCCAAGGATCCGCCGGGGAACAAGCCACAGGAGAGCGACTCAGGAACAAGTGTGGGAGAGGAAGCGGCGGCGGCGGCGCCGGGCCCGGGGGTGGTGACAGCAGGTCTGAG|GTGCCATTCTAAGCCCCTTCAGTGATGAGAAGAATAATTCTCGAAGCCTCACTAGAGAGATGTGTGAGTGACAATATGGAACGAAGGCCTGATGGTGAAGTTTCAGAAACTAGTTCCTGAGAGTGGTTCATATGTTAAGCTGAGGTGAAATTAC(CAACCCCCTTTAAATTATGTCATGCTACTTCGATGATACATAAAGTTTCTCCTACTCTGCCCAGCTCCTCTTCCTCACCCTCCCTAAACATTTATAACATCAAAATGAGATGCTCTGGAAGCCCTTTCAAAGCTACTTCCAGCTGGGTGCGCTGGGTCACGTTTGTAATCCTAATACTTTGGGAGGCCAAGGCGTGCGGATCACTTGAGGTAAGGAGTTCAGGACCAGTCTGGCCAACATGGCAAAACCCTGTCTCTACTGAAAATACAAAAATTAGCCAAGTGTGGTGGCGCTTGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCATGAGAATCCCTTGAACCAGGGAAGTGGAGACTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCACAAAAAAAAAAAAAAAAAAAAA)$ . 11BR049 ENSG00000143373.18 ENSG00000285219.2 +/- +/+ chr1:151291522 chr6:8998142 3'UTR intron translocation/3'-3' 5 6 0 23 8 medium . . . . . ENSG00000143373.18 ENSG00000285219.2 . . upstream upstream . CGGGGGTGGGCACTAGGGCAGGGCCCGGCCTAGAGGAGGAAAGTTCCAGTCCATGCCTGAAGGAATTGTGGAGAGGTGTGTCCATCCATGACACCCCCATCAGTCCTTCCCTGAACCTGTCTAGC|GTGAAAAATTGGTTATATATGTTCTTACTTTTCTCACTGTAATACTTTTACAAGAAACTTCTCAGCACTTCGCTTTCTTTGTCTGCAAAAATGACACAGAGATTTTTTAAAAGGTGGGGTTTCCCACCTTTTCAAGCAAATGGTGCATTTCCCAGCTGGCTCTTGTTACAGTGGATGCAAATGCAAACATATTCTTGATTGAGATCTGTGAAATCTCCAGAAAGTTCTTAATATTGATTTACATCCTCCCTTGCAGAAATAATTAATATTGATTACTGAGAG . 11BR049 ENSG00000151835.16 ENSG00000027001.10 -/- -/- chr13:23336316 chr13:23769520 CDS intron duplication 2 5 0 18 13 medium out-of-frame . Ubiquitin_family(100%)|Peptidase_family_M3(100%) . . ENSG00000151835.16 ENSG00000027001.10 ENST00000382292.9 . upstream downstream duplicates(1) ^(AGTGCGGCTGCGGGACAGTCACGCTGGGAACTGCTGATGGCACTGGAGGAAAACAAAGGCCGAGAGACCCTGATGCCCACAGCCCCCA___GATCACAGAAGTGAGGCCAAGATGCCCATGTCACCAGAGCCAGAAGAAAGGCTCCTACCAAAGAATATTTTACATCTGCTGAGATGAGGGTGAGAAACAAAATCCAAGAATTTCTGCGACGTTTTCCCCAAGAACCTTCAAAAAGAAATACAGAAAATTCTCAGATGAAAATAAATTGATTTTGCTCTGGGGGAAAGCCAAAAACCTTTAGCGAATCCACACTGTTTTATCCTGAGAACTTCCATGGGTCGCTGGATCAGCAGGCAACCATTATCAGACTGGAGAGTCATACTTTAAGGAATACAAATGCAACACACGACAATGTTTCCTGACATCAGATGATGAATGGACACTGAAGGGAAAAACAGGCTTTTTTTCCACCTGGCAGGAAGAGCTGAACTTGGAGTACACATTTAAAGGAAGCACAGAGGGAAGACTTAAACAGAAGAAAGAAGCGTACTTTCATGGTTTTCACAAACAAATATCCCAGGAGAAGTGATCATGGAGACCAAGGAGAACAG___GTGGGTCCCGGTGACCGTGCTCCCCGGCTGCGTGGGCTGCAGGACCGTCGCGGCGCTGGCGTCCTGGACCGTGCGCGATGTGAAGGAACGTATCTTCGCGGAGACTGGCTTCCCGGTGTCGGAGCAGCGGCTGTGGCGCGGCGGCCGCGAG___TTATCTGACTGGATCAAGATTGGAGATCTGACTTCCAAAAATTGTCATCTTTTTGTAAACCTTCAATCAAAAGGCTTAAAAGGGGGAG___GTCGATTTGGTCAGACAACGCCACCACTTGTTGATTTTCTCAAGGACATTTTGAGAAGATATCCAGAAGGAGGACAGATTCTTAAG___GAATTAATTCAGAATGCAGAAGATGCTGGGGCGACAGAAGTTAAATTTTTATATGATGAAACTCAATACGGAACAGAGACTCTTTGGTCAAAAGATATGGCGCCATATCAGG___GGCCAGCTCTCTATGTGTACAACAACGCGGTTTTCACCCCAGAGGACTGGCACGGCATTCAAGAAATAGCAAGAAGCAGGAAAAAGGATGATCCTCTGAAGGTCGGAAGATTTGGAATTGGGTTTAATTCTGTCTATCATATAACAG___ATGTTCCTTGTATCTTTAGTGGTGACCAAATCGGGATGCTAGATCCTCATCAAACACTTTTTGGCCCACATGAATCAGGCCAATGTTGGAATCTCAAAGATGACAGCAAAGAAATTAGTGAACTTTCAGACCAGTTTGCACCATTTGTTGGCATTTTTGGAAGCACCAAGGAAACATTTATAAACGGCAATTTTCCAGGAACATTTTTCCGTTTCCCTCTTCGCCTACAACCTTCACAACTTAGTAGTAACCTCTACAATAAGCAGAAGGTTCTTGAGTTGTTTGAGTCTTTTAGGGCAGATGCAGACACAGTGCTGCTCTTTCTGAAAAGTGTGCAGGATGTTTCCTTATATGTCCGAGAGGCTGACGGAACAGAGAAACTGGTGTTTAGAGTGACTTCGAGTGAGAGTAAGGCACTGAAACATGAGCGGCCGAATTCTATAAAGATTCTGGGAACTGCTATAAGTAACTATTGTAAAAAGACTCCAAGCAATAACATCACCTGTGTAACATATCACGTAAATATTGTTTTAGAAGAGGAGAGTACTAAGGATGCACAGAAAACATCTTGGTTGGTGTGTAACAGTGTGGGTGGGCGAGGGATCAGTAGTAAGCTTGACTCTTTAGCTGATGAACTGAAATTTGTCCCAATCATTGGAATAGCCATGCCTTTATCAAGCAGAGATGATGAAGCAAAAGGAGCAACGTCTGATTTCTCAGGAAAAGCATTTTGTTTCCTTCCTTTACCACCTGGTGAGGAAAGCAGCACAGGCCTCCCAGTTCACATCAGTGGGTTCTTTGGCCTTACTGATAACCGCAGGAGCATAAAATGGAGAGAGCTGGACCAGTGGAGAGACCCGGCAGCCTTATGGAATGAGTTTCTTGTCATGAATGTTGTCCCCAAAGCTTATGCTACTCTGATCTTAGATTCAATAAAACGTCTGGAGATGGAAAAGAGCTCTGATTTCCCCTTGTCAGTTGATGTTATCTATAAGCTTTGGCCGGAGGCGAGCAAAGTCAAGGTGCACTGGCAACCGGTGTTAGAGCCTCTATTCAGCGAGCTGTTGCAGAATGCAGTGATTTATTCAATTAGCTGTGACTGGGTCAGGTTGGAGCAGGTGTACTTCTCAGAACTTGATGAAAATTTAGAATACACAAAAACTGTGCTCAACTACCTCCAGAGCTCAGGGAAGCAGATTGCCAAGGTACCAGGGAATGTGGATGCTGCTGTTCAGCTCACAGCTGCCTCTGGCACAACACCTGTGAGGAAGGTGACGCCCGCGTGGGTGCGGCAGGTGCTGCGGAAGTGTGCACACCTGGGCTGTGCTGAAGAAAAGCTTCACCTTCTAGAATTTGTGCTTTCTGACCAAGCCTACAGTGAGCTGCTTGGGCTGGAGCTGCTCCCTTTACAAAATGGCAATTTTGTCCCCTTCTCCTCATCTGTATCAGACCAAGATGTCATTTATATTACCTCAGCAGAATATCCAAG___GTCCCTTTTCCCAAGTCTTGAAGGAAGATTTATTTTGGATAACTTGAAACCTCACCTTGTGGCTGCTTTAAAGGAAGCTGCCCAAACCCGAG___GAAGACCATGTACTCAGCTGCAGCTTCTAAATCCAGAACGATTTGCACGTCTTATCAAGGAAGTAATGAATACATTCTGGCCTGGCAGAGAATTGATTGTTCAATGGTATCCATTTGATGAAAACAGAAATCACCCATCTGTTTCATGGCTTAAGATGGTTTGGAAAAATCTTTATATACATTTTTCAGAGGATTTGACTTTATTTGATGAGATGCCACTTATCCCCAGAACTATACTAGAGGAAGGTCAGACATGTGTGGAACTCATTAGACTCAGGATTCCATCGTTAGTCATTTTAGACGATGAATCTGAAGCACAGCTTCCAGAATTTTTAGCAGACATTGTACAAAAACTTGGAGGGTTTGTCCTTAAAAAATTAGATGCATCTATACAACATCCGCTTATTAAAAAATATATTCATTCACCATTACCAAGTGCTGTTTTGCAGATAATGGAGAAGATGCCATTGCAGAAATTGTGTAATCAAATAACTTCGCTACTTCCAACACACAAAGATGCCCTGAGGAAGTTCTTGGCTAGTTTAACCGATAGCAGTGAGAAAGAGAAAAGAATTATTCAAGAATTGGCAATATTCAAGCGCATTAACCATTCTTCTGATCAGGGAATTTCCTCTTATACAAAATTGAAAGGTTGTAAAGTCTTACACCATACTGCCAAACTCCCAGCAGATCTGCGACTTTCTATTTCAGTAATAGACAGTAGTGATGAAGCTACTATTCGTCTGGCAAACATGTTGAAAATAGAACAGTTAAAGACCACTAGCTGCTTAAAGCTTGTTTTAAAAGATATTGAAAATGCATTTTATTCACATGAAGAGGTAACACAGCTTATGTTATGGGTCCTTGAGAATCTATCTTCTCTTAAAAATGAGAATCCAAATGTGCTTGAGTGGTTAACACCATTAAAATTCATCCAGATATCACAGGAACAGATGGTATCAGCTGGTGAACTCTTTGACCCTGATATAGAAGTACTAAAGGATCTCTTTTGTAATGAAGAAGGAACCTATTTCCCACCCTCAGTTTTTACCTCACCAGATATTCTTCACTCCTTAAGACAGATTGGTTTAAAAAACGAAGCCAGTCTCAAAGAAAAGGATGTTGTGCAAGTGGCAAAAAAAATTGAAGCCTTACAGGTCGGTGCTTGTCCTGATCAAGATGTTCTTCTGAAGAAAGCCAAAACCCTCTTACTGGTTTTAAATAAGAATCACACACTGTTGCAATCATCTGAAGGAAAGATGACATTGAAGAAAATAAAATGGGTTCCAGCCTGCAAGGAAAGGCCTCCAAATTATCCAGGCTCTTTGGTCTGGAAAGGAGATCTCTGTAATCTCTGTGCACCACCAGATATGTGTGATGTAGGCCATGCAATTCTCATTGGCTCCTCACTTCCTCTTGTTGAAAGTATCCATGTAAACCTGGAAAAAGCATTAGGGATCTTCACAAAACCTAGCCTTAGTGCTGTCTTAAAACACTTTAAAATTGTTGTTGATTGGTATTCTTCAAAAACCTTTAGTGATGAAGACTACTATCAATTCCAGCATATTTTGCTTGAGATTTACGGATTCATGCATGATCATCTAAATGAAGGGAAAGATTCTTTTAGAGCCTTAAAATTTCCATGGGTTTGGACTGGCAAAAAGTTTTGTCCACTTGCCCAGGCTGTGATTAAACCAATCCATGATCTTGACCTTCAGCCTTATTTGCATAATGTACCTAAAACCATGGCAAAATTCCACCAACTATTTAAGGTCTGTGGTTCAATAGAGGAGTTGACATCAGATCATATTTCCATGGTTATTCAGAAGATATATCTCAAAAGTGACCAAGATCTCAGTGAACAAGAAAGCAAACAAAATCTTCATCTTATGTTGAATATTATCAGATGGCTGTATAGCAATCAGATTCCAGCAAGCCCCAACACACCAGTTCCTATACATCATAGCAAAAATCCTTCTAAACTTATCATGAAGCCAATTCACGAATGCTGTTATTGTGACATTAAAGTTGATGACCTTAATGACTTACTTGAAGATTCTGTGGAACCAATCATTTTGGTGCATGAGGACATACCCATGAAAACTGCAGAATGGCTAAAAGTTCCATGCCTTAGTACAAGACTGATAAATCCTGAAAACATGGGATTTGAGCAGTCAGGACAAAGAGAGCCACTTACTGTAAGAATTAAAAATATTCTGGAAGAATACCCTTCAGTGTCAGATATTTTTAAAGAACTACTTCAAAACGCTGATGATGCAAATGCAACAGAATGCAGTTTCTTGATTGATATGAGAAGAAATATGGACATAAGAGAGAATCTCCTAGACCCAGGGATGGCAGCTTGTCATGGACCTGCTTTGTGGTCATTCAACAATTCTCAATTCTCAGATTCAGATTTTGTGAACATAACTAGGTTAGGAGAATCTTTAAAAAGGGGAGAAGTTGACAAAGTTGGAAAATTTGGTCTTGGATTTAATTCTGTGTACCATATCACTGACATTCCCATCATTATGAGTCGGGAATTCATGATAATGTTCGATCCAAACATAAATCATATCAGTAAACACATTAAAGACAAATCCAATCCTGGGATCAAAATTAATTGGAGTAAACAACAGAAAAGACTTAGAAAATTTCCTAATCAGTTCAAACCATTTATAGATGTATTTGGCTGTCAGTTACCTTTGACTGTAGAAGCACCTTACAGCTATAATGGAACCCTTTTCCGACTGTCCTTTAGAACTCAACAGGAAGCAAAAGTGAGTGAAGTTAGTAGTACGTGCTACAATACAGCAGATATTTATTCTCTTGTGGATGAATTTAGTCTCTGTGGACACAGGCTTATCATTTTCACTCAGAGTGTAAAGTCAATGTATTTGAAGTACTTGAAAATTGAGGAAACCAACCCCAGTTTAGCACAAGATACAGTAATAATTAAAAAAAAATCCTGCTCTTCCAAAGCATTGAACACACCTGTCTTAAGTGTTTTAAAAGAGGCTGCTAAGCTCATGAAGACTTGCAGCAGCAGTAATAAAAAGCTTCCCAGTGATGAACCAAAGTCATCTTGCATTCTTCAGATCACAGTGGAAGAATTTCACCATGTGTTCAGAAGGATTGCTGATTTACAGTCGCCACTTTTTAGAGGTCCAGATGATGACCCAGCTGCTCTCTTTGAAATGGCTAAGTCTGGCCAATCAAAAAAGCCATCAGATGAGTTGTCACAGAAAACAGTAGAGTGTACCACGTGGCTTCTGTGTACTTGCATGGACACAGGAGAGGCTCTGAAGTTTTCCCTGAGTGAGAGTGGAAGAAGACTAGGACTGGTTCCATGTGGGGCAGTAGGAGTTCAGCTGTCAGAAATCCAGGACCAGAAGTGGACAGTGAAACCACACATTGGAGAGGTGTTTTGCTATTTACCTTTACGAATAAAAACAGGCTTGCCAGTTCATATCAATGGGTGCTTTGCTGTTACATCAAATAGGAAAGAAATCTGGAAAACAGATACAAAAGGACGATGGAATACCACGTTCATGAGACATGTTATTGTGAAAGCTTACTTACAGGTACTGAGTGTCTTACGGGACCTGGCCACTAGTGGGGAGCTAATGGATTATACTTACTATGCAGTATGGCCCGATCCTGATTTAGTTCATGATGATTTTTCTGTAATTTGCCAAGGATTTTATGAAGATATAGCTCATGGAAAAGGGAAAGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGGTTTCCATGAAGAACGTAAGATTTCTAGATGACTCTATACTTAAAAGAAGAGATGTTGGTTCAGCAGCCTTCAAGATATTTTTGAAATACCTCAAGAAGACTGGGTCCAAAAACCTTTGTGCTGTTGAACTTCCTTCTTCGGTAAAATTAGGATTTGAAGAAGCTGGCTGCAAACAGATACTACTTGAAAACACATTTTCAGAGAAACAGTTTTTTTCTGAAGTGTTTTTTCCAAATATTCAAGAAATTGAAGCAGAACTTAGAGATCCTTTAATGATCTTTGTTCTAAATGAAAAAGTTGATGAGTTCTCGGGAGTTCTTCGTGTTACTCCATGTATTCCTTGTTCCTTGGAGGGGCATCCTTTGGTTTTGCCATCAAGATTGATCCACCCCGAAGGACGAGTTGCAAAGTTATTTGATATTAAAGATGGGAGATTCCCTTATGGTTCTACTCAGGATTATCTCAATCCTATTATTTTGATTAAACTAGTTCAGTTAGGTATGGCAAAAGATGATATTTTATGGGATGATATGCTAGAACGTGCAGTGTCAGTAGCTGAAATTAATAAAAGTGATCATGTTGCTGCATGCCTAAGAAGTAGTATCTTATTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGCAAAGGATTTTGCTGCAAAATATCAAACAATCCGCTTCCTTCCATTTCTGACAAAACCAGCAGGTTTTTCTTTGGACTGGAAAGGCAACAGTTTTAAGCCTGAAACCATGTTTGCAGCAACTGACCTTTATACAGCTGAACATCAAGATATAGTTTGTCTTTTGCAACCAATTCTAAATGAAAATTCCCATTCTTTTAGAGGTTGTGGTTCAGTGTCATTGGCTGTTAAAGAGTTTTTGGGATTACTCAAGAAGCCAACAGTTGATCTGGTTATAAACCAATTGAAAGAAGTAGCAAAATCAGTTGATGATGGAATTACACTGTACCAGGAGAATATCACCAATGCTTGCTACAAATACCTTCATGAAGCCTTGATGCAAAATGAAATCACTAAGATGTCAATTATTGATAAGTTAAAACCCTTTAGCTTCATTCTAGTTGAGAATGCATATGTTGACTCAGAAAAGGTTTCTTTTCATTTAAATTTTGAGGCGGCACCATACCTTTATCAGTTGCCTAATAAGTATAAAAATAATTTCCGCGAACTTTTTGAAACCGTGGGTGTGAGGCAGTCATGCACTGTTGAAGATTTTGCTCTTGTTTTGGAATCTATTGATCAAGAAAGAGGAACAAAGCAAATAACAGAAGAGAATTTTCAGCTTTGCCGACGAATAATCAGTGAAGGAATATGGAGTCTCATTAGAGAAAAGAAACAAGAATTTTGTGAGAAAAATTATGGCAAGATATTATTGCCAGATACTAATCTTATGCTTCTCCCTGCTAAATCGTTATGCTACAATGATTGCC)CTTGGATAAAAGTAAAGGATACCACTGTAAAATATTGTCATGCTGACATACCCAGGGAAGTAGCAGTAAAACTAGGAGCAGTCCCAAAGCGACACAAAGCCTTAGAAAGATATGCATCCAATGTCTGTTTTACAACACTTGGCACA|CTTGGACTCCTTCCCATTGAGAAGTTACTGTCCTTTCTGCATCACTTTTTGTTGTACTCTATGCCTGGAGAGAAAATCTCATGGTCTACAAAGGGCACTCATGTCCTTTTCCATTTTTCCTTTCATGGATTTTCCCTGATCCTATGCAGACACACCTCCTTTACTG METKENRWVPVTVLPGCVGCRTVAALASWTVRDVKERIFAETGFPVSEQRLWRGGRELSDWIKIGDLTSKNCHLFVNLQSKGLKGGGRFGQTTPPLVDFLKDILRRYPEGGQILKELIQNAEDAGATEVKFLYDETQYGTETLWSKDMAPYQGPALYVYNNAVFTPEDWHGIQEIARSRKKDDPLKVGRFGIGFNSVYHITDVPCIFSGDQIGMLDPHQTLFGPHESGQCWNLKDDSKEISELSDQFAPFVGIFGSTKETFINGNFPGTFFRFPLRLQPSQLSSNLYNKQKVLELFESFRADADTVLLFLKSVQDVSLYVREADGTEKLVFRVTSSESKALKHERPNSIKILGTAISNYCKKTPSNNITCVTYHVNIVLEEESTKDAQKTSWLVCNSVGGRGISSKLDSLADELKFVPIIGIAMPLSSRDDEAKGATSDFSGKAFCFLPLPPGEESSTGLPVHISGFFGLTDNRRSIKWRELDQWRDPAALWNEFLVMNVVPKAYATLILDSIKRLEMEKSSDFPLSVDVIYKLWPEASKVKVHWQPVLEPLFSELLQNAVIYSISCDWVRLEQVYFSELDENLEYTKTVLNYLQSSGKQIAKVPGNVDAAVQLTAASGTTPVRKVTPAWVRQVLRKCAHLGCAEEKLHLLEFVLSDQAYSELLGLELLPLQNGNFVPFSSSVSDQDVIYITSAEYPRSLFPSLEGRFILDNLKPHLVAALKEAAQTRGRPCTQLQLLNPERFARLIKEVMNTFWPGRELIVQWYPFDENRNHPSVSWLKMVWKNLYIHFSEDLTLFDEMPLIPRTILEEGQTCVELIRLRIPSLVILDDESEAQLPEFLADIVQKLGGFVLKKLDASIQHPLIKKYIHSPLPSAVLQIMEKMPLQKLCNQITSLLPTHKDALRKFLASLTDSSEKEKRIIQELAIFKRINHSSDQGISSYTKLKGCKVLHHTAKLPADLRLSISVIDSSDEATIRLANMLKIEQLKTTSCLKLVLKDIENAFYSHEEVTQLMLWVLENLSSLKNENPNVLEWLTPLKFIQISQEQMVSAGELFDPDIEVLKDLFCNEEGTYFPPSVFTSPDILHSLRQIGLKNEASLKEKDVVQVAKKIEALQVGACPDQDVLLKKAKTLLLVLNKNHTLLQSSEGKMTLKKIKWVPACKERPPNYPGSLVWKGDLCNLCAPPDMCDVGHAILIGSSLPLVESIHVNLEKALGIFTKPSLSAVLKHFKIVVDWYSSKTFSDEDYYQFQHILLEIYGFMHDHLNEGKDSFRALKFPWVWTGKKFCPLAQAVIKPIHDLDLQPYLHNVPKTMAKFHQLFKVCGSIEELTSDHISMVIQKIYLKSDQDLSEQESKQNLHLMLNIIRWLYSNQIPASPNTPVPIHHSKNPSKLIMKPIHECCYCDIKVDDLNDLLEDSVEPIILVHEDIPMKTAEWLKVPCLSTRLINPENMGFEQSGQREPLTVRIKNILEEYPSVSDIFKELLQNADDANATECSFLIDMRRNMDIRENLLDPGMAACHGPALWSFNNSQFSDSDFVNITRLGESLKRGEVDKVGKFGLGFNSVYHITDIPIIMSREFMIMFDPNINHISKHIKDKSNPGIKINWSKQQKRLRKFPNQFKPFIDVFGCQLPLTVEAPYSYNGTLFRLSFRTQQEAKVSEVSSTCYNTADIYSLVDEFSLCGHRLIIFTQSVKSMYLKYLKIEETNPSLAQDTVIIKKKSCSSKALNTPVLSVLKEAAKLMKTCSSSNKKLPSDEPKSSCILQITVEEFHHVFRRIADLQSPLFRGPDDDPAALFEMAKSGQSKKPSDELSQKTVECTTWLLCTCMDTGEALKFSLSESGRRLGLVPCGAVGVQLSEIQDQKWTVKPHIGEVFCYLPLRIKTGLPVHINGCFAVTSNRKEIWKTDTKGRWNTTFMRHVIVKAYLQVLSVLRDLATSGELMDYTYYAVWPDPDLVHDDFSVICQGFYEDIAHGKGKELTKVFSDGSTWVSMKNVRFLDDSILKRRDVGSAAFKIFLKYLKKTGSKNLCAVELPSSVKLGFEEAGCKQILLENTFSEKQFFSEVFFPNIQEIEAELRDPLMIFVLNEKVDEFSGVLRVTPCIPCSLEGHPLVLPSRLIHPEGRVAKLFDIKDGRFPYGSTQDYLNPIILIKLVQLGMAKDDILWDDMLERAVSVAEINKSDHVAACLRSSILLSLIDEKLKIRDPRAKDFAAKYQTIRFLPFLTKPAGFSLDWKGNSFKPETMFAATDLYTAEHQDIVCLLQPILNENSHSFRGCGSVSLAVKEFLGLLKKPTVDLVINQLKEVAKSVDDGITLYQENITNACYKYLHEALMQNEITKMSIIDKLKPFSFILVENAYVDSEKVSFHLNFEAAPYLYQLPNKYKNNFRELFETVGVRQSCTVEDFALVLESIDQERGTKQITEENFQLCRRIISEGIWSLIREKKQEFCEKNYGKILLPDTNLMLLPAKSLCYNDCPWIKVKDTTVKYCHADIPREVAVKLGAVPKRHKALERYASNVCFTTLGT|lgllpiekllsflhhfllysmpgekiswstkgthvlfhfsfhgfslilcrhtsft 11BR049 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 3 1 0 28 3 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAG)CTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTGaCCACATTGAGGAATCGTGTAAAATGAATGTATGTGCTCGTAAGTGAAATATATGCAGTGTgCCAACTCAATATGTTGGATCCTAATAGACCTG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnpsdhieesckmnvcark* 11BR049 ENSG00000124733.5 ENSG00000233473.2(3443),ENSG00000162706.13(86371) -/- ./- chr6:43012926 chr1:159085238 CDS/splice-site intergenic translocation 0 3 0 297 4 medium out-of-frame . . . . ENSG00000124733.5 . ENST00000645410.1 . upstream downstream . ^(ATGGTCACAACCTACTCGTGGAGGCTCCACTCTGTCCCTGGCTTGGCACAAACTTGAAGCCCCCTTCCCAAACGGTATATTCTCTTGTCTCTGCTCTGCTTACTGCCACCTCTCTAAGAATCTGTGTTCTTTGAGGTGGGGAAAGGGATCTCAAAATACTCACAGCTATTAATAGCCCAGCCAGCCTCAAACAGTCCATTGAAAGCTGGCATGAGTGCCTCAAAGCAGAAAAGCTTTCAGGCTTTTAGAGTGGAACAATCCCCCTACCCAAGATAGGGCGGGACTGATCCAGGACAGGGACCTCCATGTTACCGCGGTTGGTTAGCCCCTCACAGGGAGCTCCTGTCAAGCTGAGTTGTTGTCATTGGGGTCACCCAGGGCCCCCCACAGGCACAAGGAGTTCCTTTGACAGCTGTGCCTGGTATGCTGCCAGGACTTAAGCCAGAAAG___CCCCTGCCCGGATGGCAACAGTAGTTCTAGGAGGAGACACCATGGGCCCTGAGCGTATCTTCCCCAATCAGACTGAGGAACTGGGACATCAGGGCCCTTCAGAAGGCACTGGGGATTGGAGCAGTGAGGAGCCTGAGGAAGAGCAGGAGGAAACGGGGTCGGGCCCAGCTGGCTACTCCTACCAGCCCCTGAACCAAGATCCTGAACAAGAGGAGGTGGAACTGGCACCAGTGGGGGATGGAGATGTAGTTGCTGACATCCAGGATCGAATCCAG___GCCCTGGGGCTTCATTTGCCAGACCCACCATTAGAGA)GTGAAGATGAAGATGAGGAGGGAGCTACAGCGTTGAACAACCACAGCTCTATTCCCATGGACCCAG|CCCAGATGGACACAGGTGACCTAGGCTTGCCCTGTCAGATGCTTCCAAGGGAGGCTTGATTTAGAAGTCATCAACATGAGAACCTGGCTCTCCATGGAGTTTCCATCTTGCTGATGCGGCTGGCTTCAGACATCTGGGTTTTAGGCAATAGCAGCAATTGCGAAGTACATACGGAAGTGGC MATVVLGGDTMGPERIFPNQTEELGHQGPSEGTGDWSSEEPEEEQEETGSGPAGYSYQPLNQDPEQEEVELAPVGDGDVVADIQDRIQALGLHLPDPPLESEDEDEEGATALNNHSSIPMDP|aqmdtgdlglpcqmlprea* 11BR050 ENSG00000213047.13 ENSG00000143257.12(18894),ENSG00000248485.2(1607) -/- ./+ chr1:197583152 chr1:161257138 CDS/splice-site intergenic inversion 12 19 0 110 60 high out-of-frame . DENN_(AEX-3)_domain(100%),dDENN_domain(100%),uDENN_domain(100%)| . . ENSG00000213047.13 . ENST00000620048.6 . upstream upstream duplicates(9) ^(GCAAGAAGGTGCAGGAGCCGCAGCGGGCGGCCCCGGTCGCAGGAACTGAGAGGCCTCAGCTTTGGTGGCGGCTACCGGCGGAGACGGGGGCGGCGGCCACGCCACCGCTGCTGTCACAGAAAGGCTCTGGTGGGTGGGGTGGGAGGCGGGGAAGTGCCGGGGGCGCAGCCGACATGGGCCCGCCGCCACGGCTGCTGTGAGCAGCCTCTTTCCCTGTGTGGCCGCCGGCGTGGGCGGGGACGGCGCGACCCTCGCGCGGCCGGGCTGCGGGCTTCCAGGCCAGCGCGCGGGGGCCGGACGGACAGCCCCACACCGACATGTAACCATGGACTGCAGGACCAA___GGCAAATCCAGACAGAACCTTTGACTTGGTGTTGAAAGTGAAATGTCATGCCTCTGAAAATGAAG___ATCCTGTGGTATTGTGGAAATTCCCAGAGGACTTTGGAGACCAG___GAAATACTACAGAGTGTGCCAAAGTTCTGTTTTCCCTTTGACGTTGAAAG___GGTGTCTCAGAATCAAGTTGGACAGCACTTTACCTTTGTACTGACAGACATTGAAAGTAAACAGAGATTTGGATTCTGCAGACTGACGTCAGGAGGCACAATTTGTTTATGCATCCTTAG___TTACCTTCCCTGGTTTGAAGTGTATTACAAGCTTCTAAATACTCTTGCAGATTACTTGGCTAAGGAACTG___GAAAATGATTTGAATGAAACTCTCAGATCACTGTATAACCACCCAGTACCAAAGGCAAATACTCCTGTAAATTTGAGTGTG___AACCAAGAGATATTTATTGCCTGTGAGCAAGTTCTGAAAGATCAGCCTGCTCTAGTACCG___CATTCCTACTTCATTGCCCCTGATGTAACTGGACTCCCAACAATACCCGAGAGT___AGAAATCTTACAGAATATTTTGTTGCCGTGGATGTGAACAACATGCTGCAGCTGTATGCCAGTATGCTGCATGAAAGGCGCATCGTGATTATCTCGAGCAAATTAAGCACT___TTAACTGCCTGTATCCATGGATCAGCTGCTCTTCTATACCCAATGTATTGGCAACACATATACATCCCAGTGCTTCCTCCACACCTGCTGGACTACTGCTG___TGCCCCAATGCCATACCTGATTGGAATACACTCCAGCCTCATAGAG___AGAGTGAAAAACAAATCATT)GGAAGATGTTGTTATGTTAAATGTTGATACAAACACATTAGAATCACCATTTAGTGACTTGAACAACCTACCAAGTGATGTG___GTCTCGGCCTTGAAAAATAAACTGAAGAAGCAGTCTACAGCTACGGGTGATGGAGTAGCTAGGGCCTTTCTTAGAGCACAGGCTGCTTTGTTTGGATCCTACAGAGATGCACTGAGATACAAACCT___GGTGAGCCCATCACTTTCTGTGAGGAGAGTTTTGTAAAGCACCGCTCAAGCGTGATGAAACAGTTCCTGGAAACTGCCATTAACCTCCAGCTTTTTAAGCAG|GATCAATGCCATCAAGCTACAGATGGTCTTACAAATGGAACCCCAAACGAGCTCAACTAACAACTTCTACCGAGGACCCCTGGACCAACCCACTGACCCTTTGGCTGGCCTAGAGAGTTTCCCTCTGGAGGATACTACCACTGCAGGGCCCCTTCGCCCCCATCCAGCAGGAAGTAGCTAGAGTGGTCATCGCCCAATTTCCAACAGCAGCTGGGGTGTCCTGTTTAGAGGGGAGATTGAGAGGTGAAGCCAGCTGGACTTCTGGGTCAGGTGGGGACTTGGAGAACTTTTCTGTCTTACAAGAGGATTGTAAAATGTGCC MDCRTKANPDRTFDLVLKVKCHASENEDPVVLWKFPEDFGDQEILQSVPKFCFPFDVERVSQNQVGQHFTFVLTDIESKQRFGFCRLTSGGTICLCILSYLPWFEVYYKLLNTLADYLAKELENDLNETLRSLYNHPVPKANTPVNLSVNQEIFIACEQVLKDQPALVPHSYFIAPDVTGLPTIPESRNLTEYFVAVDVNNMLQLYASMLHERRIVIISSKLSTLTACIHGSAALLYPMYWQHIYIPVLPPHLLDYCCAPMPYLIGIHSSLIERVKNKSLEDVVMLNVDTNTLESPFSDLNNLPSDVVSALKNKLKKQSTATGDGVARAFLRAQAALFGSYRDALRYKPGEPITFCEESFVKHRSSVMKQFLETAINLQLFKQ|dqchqatdgltngtpneln* 11BR050 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 15 0 29 139 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(4),inconsistently_clipped(1),mismatches(2) GCaGCaGCaGCGGCGGCGGCGGCGGCaGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCG(GTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR050 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 4 9 0 24 26 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(5),low_entropy(3),mismappers(1) CTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTT-CCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACC(TTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR050 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 6 7 0 37 26 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(8) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGG)CTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR050 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 6 7 0 142 50 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1),mismatches(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAG)CCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR050 ENSG00000270049.3 ENSG00000238098.9 +/+ +/+ chr16:67484328 chr16:2361116 exon/splice-site exon/splice-site duplication 1 4 0 12 13 high . . . . . ENSG00000270049.3 ENSG00000238098.9 ENST00000656196.1 ENST00000512848.5 downstream upstream duplicates(1) ^(AAAAAGAGGAAGTTTGAGGCCGGCCGCTTGGTGGCGCCTGTGGCCGCAGGGATTTGACTGGGCCTTCTCTAGCTTTCCCCGGTTTGCTGCACTTGACGCTGCAGGGCGGGCGGGGTAAAGAAGGGAGCGAGCCCTTCTCAAGCTTGGAAAGTTTCCAGACTGCTGGGCCAGCCTCCTCCCCAGAGGGAAACTGAGGTCCGATTGAG___GTTTCTCCAAGACCGCCCACTCCTGCTCCTGTCCCCAAACCCCTTTCTGCCTAGG)GTTCCTGGAAGCCAAGGAAACAGAACGAACTGTTCCCTGGGaGGGCGAGCCACTGCAGAGTACAAAGCTTTCAGGCCGCCTGCCTCATTAGCACTAATGGCTGCTCCCTTCCGCCCTGTGTCGTCAGGACTGTCTATGCCTGGTCTCATCAGCACAAGGCTGGG|TGATGAGCCCTCCTCTTCAGCTAGGAAAATGACGGTGTTCAGAAAGTTAAAACTTCTTCGCTGGAAGGATTTCATCTTAAAGTTG___GGAGACTGGAAGAAATTAAAGTGTTCTAAATGGAAGAGCATTCACCACATGTGTTCTGTTTTGGGTTGACATTTAGCTTTTGTTTTTATTTTAGAAACGGAAGACTCTGGTAGCAGTCCTTGAAATCTTGATGCCATTGCTATTTTCTGCATTGTATTGTATCTTCGTTTTAGTAGTG(CTCCAATAAAAAGACCTGCTAC)$ . 11BR050 ENSG00000270049.3 ENSG00000238098.9 +/+ +/+ chr16:67492121 chr16:2361116 exon/splice-site exon/splice-site duplication 1 2 0 10 13 high . . . . . ENSG00000270049.3 ENSG00000238098.9 ENST00000656196.1 ENST00000512848.5 downstream upstream duplicates(2) ^(AAAAAGAGGAAGTTTGAGGCCGGCCGCTTGGTGGCGCCTGTGGCCGCAGGGATTTGACTGGGCCTTCTCTAGCTTTCCCCGGTTTGCTGCACTTGACGCTGCAGGGCGGGCGGGGTAAAGAAGGGAGCGAGCCCTTCTCAAGCTTGGAAAGTTTCCAGACTGCTGGGCCAGCCTCCTCCCCAGAGGGAAACTGAGGTCCGATTGAG___GTTTCTCCAAGACCGCCCACTCCTGCTCCTGTCCCCAAACCCCTTTCTGCCTAGGGTTCCTGGAAGCCAAGGAAACAGAACGAACTGTTCCCTGGGTGGGCGAGCCACTGCAGAGTACAAAGCTTTCAGGCCGCCTGC)CTCATTAGCACTAATGGCTGCTCCCTTCCGCCCTGTGTCGTCAGGACTGTCTATGCCTGGTCTCATCAGCACAAGGCTGGG___TAACAGCTGAAGAAGTCCCAGGAGTCCTCCCATGTCCTCTCAGCAACCCAGGCTGGAGCCTACTCCTTGGTGTTGGCAAAGGAAACCGTCTTTGAAG|TGATGAGCCCTCCTCTTCAGCTAGGAAAATGACGGTGTTCAGAAAGTTAAAACTTCTTCGCTGGAAGGATTTCATCTTAAAGTTG___GGAGACTGGAAGAAATTAAAGTGTTCTAAATGGAAGAGCATTCACC(ACATGTGTTCTGTTTTGGGTTGACATTTAGCTTTTGTTTTTATTTTAGAAACGGAAGACTCTGGTAGCAGTCCTTGAAATCTTGATGCCATTGCTATTTTCTGCATTGTATTGTATCTTCGTTTTAGTAGTGCTCCAATAAAAAGACCTGCTAC)$ . 11BR050 ENSG00000116604.18 ENSG00000143776.18(53401),ENSG00000234277.3(21679) -/- ./- chr1:156500486 chr1:227371875 5'UTR/splice-site intergenic duplication 2 2 0 43 3 high . . . . . ENSG00000116604.18 . ENST00000348159.9 . upstream downstream . ^(GAGTTACCTTTGGAGCCCGAAAGGAGGAAGGAAGCAAAATATCAACAACAGCCGAGGCGGCTCAGGCGCTCGGCCCCGGTTCCCCGCTTGCCTGCCGCCCGCCTGCTGGCCCCCGCGCCCACGACGGGGGCCCAGGCCTCACGGCGCCGCCCAGGGCCCGCGCGGACGCCGGCCTCATTTATTATTCTCCCCGCCCGG)AGCTGCGGCTTCCCGGTGTTGAAGATCCCCCGGACCAGGGGCGAGGGCTACCCGCTCTTTGCCGTGACAACACCGTTCCCCCAGCCGGGCTG|ATTTGCTTCATACCAAGTAATAAGTTGGATCTCATGCCAGCCTTGTCCAAGGGTCTTCCGTAACCCTTCCAAGATGG___ATTAAAAAATCGAGAGCTTCCCTTGGCTGCTTCTGAGCCAGAGGACTGCTGAGCGGGATTGCGGAAGAAG___GGGGAATCTTGTCTTCTTATTGTTGCTGCCAGGAAGCC . 11BR050 ENSG00000265241.7 ENSG00000213047.13(64490),ENSG00000203724.11(62660) -/- ./- chr1:145923246 chr1:197839970 3'UTR intergenic duplication 3 1 0 54 3 medium stop-codon . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000265241.7 . ENST00000583313.7 . upstream downstream duplicates(1) ^(AGTTTCCCGAGGTACCTAGTGTCTGAGCGGCACAGACGAGATCTCGATCGAAGGCGAGATGGCGGACGTGCTAGATCTTCACGAGGCTGGGGGCGAAGATTTCGCCATGGATGAGGATGGGGACG___AGAGCATTCACAAACTGAAAGAAAAAGCGAAGAAACGGAAGGGTCGCGGCTTTGGCTCCG___AAGAGGGGTCCCGAGCGCGGATGCGTGAGGATTATGACAGCGTGGAGCAGGATGGCGATGAACCCGGACCACAACGCT___CTGTTGAAGGCTGGATTCTCTTTGTAACTGGAGTCCATGAGGAAGCCACCGAAGAAGACATACACGACAAATTCGCAGAATATGGGGAAATTAAAAACATTCATCTCAACCTCGACAGGCGAACAGGATATCTGAAG___GGGTATACTCTAGTTGAATATGAAACATACAAGGAAGCCCAGGCTGCTATGGAGGGACTCAATGGCCAGGATTTGATGGGACAGCCCATCAGCGTTGACTGGTGTTTTGTTCGGGGTCCACCAAAAGGCAAGAGGAG___AGGTGGCCGAAGACGCAGCAGAAGTCCAGACCGGAGACGTCGCTGACAGGTCCTCTGTTGTCCAGGTGTTCTCTTCAAGATTCCATTTGACCATGCAGCCTTGGACAAATAGGACTGGGGTGGAACTTGCTGTGTTTATATTTAATCTCTTACCGTATATGCGTAGTATTTGAGTTGCGAATAAATGTTCCATTTTTGTTTTCTACATTTAATGTTACTTTCCTGTCCTAAAATTGAAAGTTCTAAAGCATAGCAAGGCTGTATGGATCATTGTGAAGATACTTCTAGGGACTGAACTCTATGTATTTCTTTTTTTTCTTTTTTTTGAGATAGAGTCTTGCTGTGTTACCCAGGGTGGATTGCAGCTGATCATAGCTCACTGCAGCTTCAAACTCTTGGGCTCAAGCCATCCTTCTGCCTCACTGTCCCTAGTAGTTGGGATTACAGGCACATGCCACCATGCCCAGCTAAATTTTTAATATTTTTGTAGAGATGGGGTCTTGCTGTGTTACCTGGGCTAGTTATGTGAGTTTCTATATTAGACATAGTCTCAAGTTTCAGGTAGGGTTTAAAGTAGAGACACTGGTCAGTATTTCTTTTTTGGGGGGAACTAGGAGAGCAGGAGTAGAAGTGAGATGTTAAGATCTTATGGCACTAAAGACTTACTATTCTGTTCCTACATACTCTGTTAGGATCAGATAGATGTTATAGAAATGCCTTTTGTTTCTCCTGCCCTTCTTGATGTCACAGTTTTTTGTACTTCCAGCTGTCTAAAGGCATGAATCTCCTCTTGGAGCATTCTCCCAGACCCTTCTTTAGAAGAGTCTATACTAAGTTCTTGGTGCCCTCTTCGGCAGCCAAGGGTGAAGGCCCCATAGAGGAGAGGATCCAAAGGAGCATTGAGGAGGCCCAAGAGGAAAAGGATGTGGCTCAGGCTGGGAGGGACTTCAGTTAGCATGGTGGGGGAGAACCAGTACCACATACCCAGTAGGTAATAAGGTGTCCAGCAGAGGATGAAGGTCAGCAAGATAAGCAGGGCCAGTCTCAGGGCCCGGAGACGAACACGGGGACAATTGTCAAAGGAGCGGGGGAGGGCAAATTCACCAGCAGGGGCTAGGAATTTAGAAAATATACTGTAATTCAGACACTCAGCTTCTGATCTGAGTATAGGGTGAATTGATGGAGGGGCATAGCTAGTGAGACAGAGCTCGCCTCCTACAAGGAGGAGAATGTTGCAAACCGTTTTCCCCTTCCCAACCTGGGACTATATGATTTCTTACCCCCAGGGATTATGATAGAAATATGAAGCCACCAAGTCTAGACTTGATGGTGTTCAAGAATAAATAATACTGATTGCCTCCCTAGTCCTTGTCCAGCTAACTCAGCTGTTTATAATTGAAGGGATTCAACAAAATTATCTCTAGCATCAGGTGCTAGACATGGTTAGAATCTCACCATGGTTTAGTGACTGGTAGATAGCTATTAGGTAGGTAGATAAATAAATGATGCTAGAGGCAACAGGTCTAGGGTTAAGGATTAAGGCCTGGGAATTGGAGTCTCACCATGGCTCCCCTTCCTTGTCTGGGGCCTGGACACACTGAGGACAATGCGGCTATAGCAGATGGCCATGGCAGTCAGTGGCAGCAGAAAGAGGCAGCAGAAGGTGAAGAGGTTATAGGTGGTCTCTTGCCATTGAGCCTTGAAGCTGCCTTTGGTGACACACTGAGTGAAAGGGACTGGGCCAGCTCAGTGGACCGTGTGGAACAGGAACAGCTGGAGTGGAGTTGAGGACTATTAGAACTGGTTCCCCTCACCACCCAACCTACCCACCTATGTCATACTGTCTCCTCCCAATTCATCCTTAATTCCAAGTGAAGCAGCACAGTGCTGAGAAACAGTTCATCCATGGTGCCATGTTAAAGAAGTTGGAAATATATCTTGAAAATCCTATCTTCCTTTTAGGCTTGAATATGATGCTGAACAGTAAGTTTGTTAAATCTTGGAACTTAAAACAATCCTGCTTTCTCAAGTACTATTCTAACATTGCGCTTTATAAGGGATGATATTTCTACCACCTCACTCATATTTTTAGCTGAAATGATTTTCCTGGTATGTCTGTTATTTTGTGGAAAAAGAAATATTGTGTAAAATGGGTGCTGCCAAAATTCCAGGCCATTTTGCAGGGACTCTGAAGTGACCTTTAGTAGTAATAGTCTTATGTGCAGTAACTATAATGGTAAAGAATGTTAAATAATAAAATTTAACATTTTCCAAATGCTATTGGGCTGCCCCTCCCCCTTTTTGTTAAATTGCTGGGTTTTCCAACTGAATCAGTAAAAACTATTTCTGTTTAGAGCTACAAGGTTAAAGTGCCTGCTTTCCAGTAATGGAGATTGAGTCACTATTAATTTGATAAAAGGTAAGCTCAGTAGGCATCAGATTCCTAGATACAAGGCATTTGGGAAAGTGATTTTAGC)AGACATGAGGGACATTTAGGAAAGATGAATAGTTTCAGCCTAAGAGAATTTTGTGAACTGTTTGGAGTTACGATCAGGCTACTCTGAGCTAGTTGGGAAATGGTCTTTCCTCTTCCCATCTCTTGCATTCATATATTTCTAAGTTTTTTTTTTTGTTTTTGTTTTTGTGCTCTGCCTAAGAAGTGCTTGAGAATTGTGAGGAGTA|GAGAACAGTATGGGGAAAACAGTCCCCGCCATGATTCAAGTATCTCCCACCAGGTCCCTCCCACAACACGCGGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGtCACAGCCAAACTATATCACCC . 11BR050 ENSG00000174928.16 ENSG00000163710.9 -/- -/+ chr3:155805597 chr3:142838104 intron intron inversion/5'-5' 1 1 0 10 9 medium . . . . . ENSG00000174928.16 ENSG00000163710.9 ENST00000340171.7 . upstream upstream duplicates(1) CGGGAACATGGCGGGGCAGCCCGCGGCCACCGGCTCGCCGTCTGCCGACAAGGACGGAATGGAGCCCAACGTCGTGGCgCGGcTCTCGCAGTGGGCAGACGcCCACCTGCGCCTAGTCCGG___GGACACGGTATTCCTCTCTGGCCCAAGCT...CGATCATAGCTCACTGCTGCTGCTCCACCCACTTCGGCCGAAAAGATCCTCCCACTTCAGCCTCCCGAGTAGCTGGAACCACAG|GGCAGTGATGTATCCAGGTACCCGGCTCTGCATCTGACCCTGGGGTATCACCAGCTCTACTTGTTTCTGTTTGGCTATTGACACTCCTGTTAATGTTGCC . 11BR051 ENSG00000178222.13 ENSG00000250259.1(29421),ENSG00000178222.13(13085) -/- ./- chr4:1073599 chr4:1058393 CDS/splice-site intergenic deletion/read-through 19 36 2 61 83 high out-of-frame . zinc-RING_finger_domain(100%)| . . ENSG00000178222.13 . ENST00000433731.7 . upstream downstream duplicates(1),mismatches(1) ^(GCAGAGCTGCCCGCCTTCGGGCCCTGCGCGGGGAGGCTGGTCCCAACCTTGCGTGGGCTTCGCGTGGGCCCGGCCTCGCCGCTGCGGTCGCCCGCCTGGCATGGCCAACTGGGTGTTCTGTAATCGCTGCTTCCAGCCGCCCCACAGGACGTCGTGCTTCAGCCTCACCAACTGCGGGCACGTGTACTGCGACGCCTGCCTCGGCAAAG___GTAAAAAGAATGAATGCTTGATTTGTAAAGCTCCTTGTCGTACAGTTTTGCTTTCAAAGCAT___ACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAG___ATTTTAGAATTTCAAGAAAAACACAGGAAGAGATTGTTAGCCTTCTATAGAGAAAAG___ATTTCTAGGTTGGAAGAATCCCTTAGGAAGTCAGTGCTGCAGATAGAACAACTACAAAG___TATGAGATCATCACAACAAACAGCTTTCAGCACAATAAAAA)GTTCAGTTTCAA___CAAAACCACACGGATGCCTGCTGCCACCTCACTCATCAGCCCCCGACAG___ACTGGAGTCGATGGAAGTTGATCTCTCTCCTTCTCCGATTAGAAAA___TCTGAGATAGCAGCCGGCCCTGCGAGAATCTCCATGATTAGTCCACCTCAAGATGGACGAATGG|GCAGCGTCTCCTCCCTGGGCCCCGAGCATCCCGGCCTGACAACGAGTCAGAGGAGCATGGGAAAGCCTCTCAG___GATTCCACCTCTGCAAATTCCCTACAAGGGACCCCCACTAACGCCAACACCACAGTTACCAGGGAGAGCAGGAAGAGGGGACTCTCCAAGCTTCGGG...___TGTGAAGTTTTGAAGTCATTTCAAAGACAAAGTTGTGTTTTTACCGCGACTTCCATGCCTCCTGCGGGACCTGCTCACCTTGGGGCAGTGACA MANWVFCNRCFQPPHRTSCFSLTNCGHVYCDACLGKGKKNECLICKAPCRTVLLSKHTDADIQAFFMSIDSLCKKYSRETSQILEFQEKHRKRLLAFYREKISRLEESLRKSVLQIEQLQSMRSSQQTAFSTIKSSVSTKPHGCLLPPHSSAPDRLESMEVDLSPSPIRKSEIAAGPARISMISPPQDGRM|gsvsslgpehpglttsqrsmgkplripplqipykgppltptpqlpgragrgdspsf 11BR051 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 23 14 1 48 42 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(3),low_entropy(1),mismappers(1),mismatches(2) GGGACAgCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAG?GAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGC(CACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR051 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 10 26 0 64 153 high . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000369458.8 upstream downstream duplicates(3),low_entropy(3) CCTCCCGAGACCTTAGGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG___GGAGACACTCCATCACAGTCACTACTGTCGCCTCAGCTGGGAACATTGGGGAGGATGGAATCCTGAGCTGCACTTTTGAACCTGAC(ATCAAACTTTCTGATATCGTGATACAATGGCTGAAGGAAGGTGTTTTAGGCTTGGTCCATGAGTTCAAAGAAGGCAAAGATGAGCTGTCGGAGCAGGATGAAATGTTCAGAGGCCGGACAGCAGTGTTTGCTGATCAAGTGATAGTTGGCAATGCCTCTTTGCGGCTGAAAAACGTGCAACTCACAGATGCTGGCACCTACAAATGTTATATCATCACTTCTAAAGGCAAGGGGAATGCTAACCTTGAGTATAAAACTGGAG___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACCA)$ . 11BR051 ENSG00000136770.11 ENSG00000232853.1(44763),ENSG00000207264.1(29103) -/- ./+ chr10:22003213 chr10:21292858 CDS/splice-site intergenic inversion 15 16 1 262 66 high out-of-frame . DnaJ_domain(100%)| . . ENSG00000136770.11 . ENST00000376980.8 . upstream upstream duplicates(1),inconsistently_clipped(2) ^(ACTGTGCAGCCCAGGCGCCGGGCGCTGCCTCTACAGCTGTGTGTAGGCCTGGGGGCGAGGGTCTTCGGAACGTAGCGCTGGCTGCGGCCCCGCCCGCCTACCCACCCGCCCGTCCGGCAGCCGGCTCCCGCCGCCTCCGCGCTCTGTCTGGGGCCAGCCACCTGGCGGGCCGCTCCGGTGCGCCTGCCCGCGCTTTTCAC)TGACAGGCGCTGTTCCCCACAGCCAGCGCCGCCCGCCACGTCCCAGCTCTCGGCCAACGGAGCTGCGCGGCGGGTGACCTTTCCGAGCCCAGCGCGATGACGGCTCCTTGCTCCCAGCCGGCGCAGCTTCCTGGACGCCGCCAGCTCGGGCTGGTGCCGTTCCCGCCGCCGCCGCCGCGGACGCCGCTGCTGTGGCTGCTGCTGCTGCTGCTGGCCGCCGTGGCGCCGGCGCGCGGCTGGGAGAGCGGAGACCTGGAGTTGTTTGACTTAGTGGAGGAGGTGCAGCTCAACTTCTACCAGTTCCTCGGGGTGCAGCAG|GGAAACCAGGAGGAATTCCAGAATCAAAGAGAACCGCATTCCTCTCTACCACAAAGTACTCACACTTGGCAAATGGCAAAGATTTGGGTCATCATTTTTTAAACGACAGCCAAGCATTAAAGAGCCCAGGCAGAGAGCAAGTAAAAGAGTCTCCGTGGTTCCTCCCAGCGCTAGTCTGTGGCCTCAACAACATAGCACGTTGCAGGAAAAATTCCAAATTTCTGGGTCCCAAGGGGAGGC MTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVEEVQLNFYQFLGVQQ|gnqeefqnqrephsslpqsthtwqmakiwviif* 11BR051 ENSG00000162636.16 ENSG00000241361.8 +/+ +/+ chr1:108560565 chr1:108284240 CDS/splice-site exon/splice-site duplication 0 24 2 221 142 high out-of-frame . . . . ENSG00000162636.16 ENSG00000241361.8 ENST00000405454.1 ENST00000411846.6 downstream upstream duplicates(1) ^(TCCCGACTCCCAGACGGGCGGCAGCGGCGGCGGAGGCGGCGGCGGCGGCGGCGGCGAGCTGAGCACCAAAAGGGCGCTCACCTCCCCGGGCGAGCTGCAGCACGACCGCTCCCCGCGGGCGGTCGGGGTCCGCGCCGCAGCTGCCGCCGCGTTCCGGCCCAGGCTGCCGCGAGAGGCGGCGGCAGCGGCCCCGGCCGCGGCCGGCCTGCGGCGCCCCCCGGCCGCGCCCCCGCGCACAGCTCGCGGCCCCGGCCATGGGGCTGGGCTGATCCGGGGCTCGGCCAAGCTGAGGCGGCGGCG)CCCGGCCGTGCGCCCAGCTTGCAGGCGCCTGGCTCTCACGATGATGAAGAAGAAGAAGTTTAAGTTTAAGGTGGACTTCGAGCTCGAGGAGCTCTCCTCAGTGCCCTTCGTCAATGGGGTCCTCTTCTGCAAGATGCGGCTGCTGGACGGCGGCAGCTTCACCGCCGAGTCCTCCAG|CATGGATAGTGATGGATCAATGACAGTAGACTGGGATGAATGGAAGTACTACTTTTTACTGCATCCTGCAACAAATATCACTGAAATGATTCATTTCTGGAAGCATTCTACT___TATAAGAAATTGCTTAGTTTTGATGGTGTTCATTTAGGAATTCTTGAAAGATTTATATTTGGCTCATTGGCTGGTGTAACTGCCCAGACCTGTATTTACCCCATGGAG___GTACTAAAGACCAGACTGGCTATAGGTAAAACTGGAGAGTATTCAGGGATTATTGATTGTGGCAAGAAGCTTCTAAAACAAGAAGG(TGTCAGATCCTTTTTCAAAGGTTATACTCCTAACTTGCTAGGCATTGTACCTTATGCCGGCATAGATCTTGCTGTTTATGAG___ATTTTGAAGAATTTTTGGCTAGAAAATTATGCAGGAAACTCTGTGAATCCTGGGATAATGATTTTGGTGGGATGTAGTACATTGTCTAATACTTGTGGTCAGTTAGCCAGTTTCTCTGTGAACCTTATTAGAACTCGCATGCAGGCTTCAG___CCCCAGTGGAAAAAGGAAAAACAACTTCTATGATTCAGCTCATTCAAGAAATATATACCAAAGAAGGAAAATTGGGATTTTACAGGGGTTTCACCTCAAACATCATAAAGGTGCTTCCTGCAGTAGGCGTTGGCTGTGTGGCCTATGAGAAAGTGAAGCCACTTTTTGGATTAACCTGGAAGTGATATATAAAATTGTTGTCATTGTAATCACTTAATTGTAAGATAATACCTGTGTTATAAAGAGATGTTATCTTTTCCTAAGAGGAAAGAAATGTCAGATAATTGTTAAAATATTTTTTCATTATTACAAAATACATAAATTAAATAATAATTTTTATAAAGTTCTTGAATAAGTTAAAATATTTAATATCCAAAGAATACTATTTACATTTTCTACTACTCTCCCTTGAATCCTAATTTAAAATTTGTTCTTGATTTGATTTGAATGTAACATAAAACATTTGGTCAGTTATAGGAGTTTATCTTTGAAAACGTTTTTACATTTGAAAACTTATTTTAAAAAAGCTGAGCTTGAAAATGCTTTATACACTAACAGAAAAATCAGTGCATTTAAAATTGATGTTATAGCAAATAATTTGGAGTCTGTTTCTTTTACTTAAGCAAAATGGAAAATTGGTTTCTAATTCCT)$ MMKKKKFKFKVDFELEELSSVPFVNGVLFCKMRLLDGGSFTAESSs|mdsdgsmtvdwdewkyyfllhpatnitemihfwkhstykkllsfdgvhlgilerfifgslagvtaqtciypmevlktrlaigktgeysgiidcgkkllkqegvrsffkgytpnllgivpyagidlavyeilknfwlenyagnsvnpgimilvgcstlsntcgqlasfsvnlirtrmqasapvekgkttsmiqliqeiytkegklgfyrgftsniikvlpavgvgcvayekvkplfgltwk* 11BR051 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 15 6 1 32 32 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream duplicates(1),mismatches(1) CTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGG(AAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11BR051 ENSG00000234869.1(29094),ENSG00000075240.17(43096) ENSG00000075240.17 ./+ +/+ chr22:46577290 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 7 15 0 28 49 high . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream duplicates(2),inconsistently_clipped(1),mismatches(1) CTCCTCCCGGCTCCC___...CTCCCGGGCGGGCGGCAGGCGTAGCGCGGCCGGGCGGCCGGCGAGGGGGGCGCCGCGGCGGGTGGATGAGAGTTGGCCCCGATATCCGCTCAGG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGGACAGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCATCATGGCCACAGGAGTCCAGGACTTTAACCGGACAGAGTTTGATCGACTGAATGAGATCAAAGGTCA(CCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC___AGGAGGAGCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 11BR051 ENSG00000174652.19 ENSG00000105085.11 -/- -/- chr19:9415654 chr19:16578409 CDS/splice-site CDS/splice-site duplication 9 11 0 58 35 high in-frame . |Mediator_complex_subunit_26_C-terminal(100%),Mediator_complex_subunit_26_middle_domain(100%),TFIIS_helical_bundle-like_domain(100%) . . ENSG00000174652.19 ENSG00000105085.11 ENST00000592904.6 ENST00000263390.8 upstream downstream . ^(GTGTTTTCCGGCGCTTTCTCCGCGCCGCCAAACCCGTTTTCTTCCTGGTGGCGTTTGGGCTTAATACAGCTTTGGCGAGGTCGGATGACGGGTGGGAGCCAGCGGTGGAAGGGGTGGCGAAAGTACCGGTTTGCCCCAGGCCGCCGAGGGGCCTCCTTAGAGAGACCTTGCCTGCTCCGCTCGCGTCCGCCGGGGCCGCGCGGGTCCTCCTGGCGCCGCCAGGTTCAAAAAGCCACTCGAGTTGTCACTGCGACGGCCCTGGGCCAGGAGCCGTTTCGGGATCTGTC___AAACAACGAGTTTTCGTCGTTCGAATCAGGTTGACTGGTCCTTCATCCCCCCAATCTCCCGTACCTGGCGAGTCCAGCTCGTCGCG___GCCTGTACCTCCCCACAGAGCTTCAAAACGGGCTTTTAGGAAGAAGGAATGGAGGCTTTGAA___GCAATGCTAAGAAAAGAGTGATATGCAAGCTGAGACCAAAAATATGGTATGATTTAGCCATACTGAAGGGGAAGGAAATAAGAGCTGGGCAAAGCATTCTGTGAATTGGCTGACTCCACTTCTATGGTGAGAGAGAGGAGTGCATCAAAGATTACTCCCAG___TAGAGATGGTTTCAGCATGTTGGCCAGTCTGGTCTCAGACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGTATAAGCCACTGTGCCTGGCCAAA___GATACCGTTAACCCTGGATAAAGAGAATGGAGGTTACCTCTGTCCGTGTAGATTCCTAAGCTGTCCTGGAGTGATCCTTGGAGTAAAGGAAAGGTGCTTTGAAGCACATTCAGCCATCAGCCCTGTGGGATGGCAGCCACTGATTTGTCCTATG___GTCTTTACAGGGACCCAGTCTGCCTTCAAGAAAAGACAGAAGTAGAAAGGGTGGTGGCTGACTGTCTGACAAATTGTTATCAG___GATTCAGTGACTTTTGATGATCTGGCTGTGGACTTCACCCCAGAAGAATGGACTTTACTGGACCCAACTCAGAGAAACCTCTACAGAGATGTGATGCTGGAGAACTACAA)GAATTTGGCCACAGTAG___GATATCAGCTCTTCAAACCCAGTCTGATCTCTTGGCTGGAACAAGAAGAGTCTAGGACAGTGCAGAGAGGTGATTTCCAAG___CTTCAGAATGGAAAGTGCAACTTAAAACCAAAGAGTTAGCCCTTCAGCAGGATGTTTTGGGGGAGCCAACCTCCAGTGGGATTCAAATG|ATCCGGAACATGGTGGCGGTGCTGGAAGTCATCTCCAGCCTGGAGAAATACCCTATTACCAAAGAGGCACTTGAG___GAAACACGACTTGGGAAGCTCATCAACGACGTCCGCAAGAAAACCAAGAACGAGG(AGCTCGCCAAGCGGGCCAAGAAGCTGCTGCGGAGCTGGCAGAAGCTCATCGAGCCGGCACACCAGCATGAGGCGGCGCTGCGGGGGCTGGCGGGGGCCACCGGCTCTGCCAACGGGGGCGCACACAACTGCCGGCCGGAGGTGGGGGCGGCTGGCCCACCCAGGAGCATCCATGACCTGAAGAGCCGCAATGACCTCCAGAGGCTGCCCGGGCAGCGGCTGGACAGGCTGGGCAGCCGCAAGCGCCGGGGTGACCAGCGTGACCTCGGCCACCCAGGGCCGCCACCCAAGGTCTCCAAAGCTAGCCACGACCCCCTGGTCCCCAACTCATCCCCCCTCCCCACCAACGGGATCAGTGGGAGTCCAGAGAGCTTCGCCAGCTCCCTGGATGGCAGTGGGCATGCAGGCCCAGAGGGCAGCCGCCTGGAGCGTGACGAGAATGACAAGCACAGTGGCAAGATCCCCGTCAACGCCGTGCGACCGCACACCAGCTCCCCGGGCCTGGGCAAGCCCCCTGGACCCTGCTTGCAGCCAAAGGCTTCGGTGCTGCAGCAGCTGGACAGGGTGGACGAGACTCCGGGGCCTCCCCATCCCAAGGGACCCCCTCGCTGCTCTTTCAGTCCTCGGAACTCACGGCATGAGGGCTCCTTTGCCCGGCAGCAGAGCTTGTATGCACCCAAGGGCTCCGTGCCCAGCCCCTCACCGCGGCCCCAGGCACTCGATGCCACACAGGTGCCGTCACCGCTTCCACTGGCACAGCCGTCCACACCCCCCGTACGGCGGCTCGAGCTGCTGCCCAGTGCGGAAAGCCCAGTGTGCTGGCTTGAGCAGCCTGAGAGCCACCAGCGGCTGGCGGGGCCGGGCTGCAAGGCAGGGCTGTCCCCAGCCGAGCCCCTCCTGTCCCGGGCAGGCTTTTCCCCAGACTCCTCCAAGGCGGACAGTGATGCTGCCTCCTCAGGGGGCTCGGACAGTAAAAAGAAGAAGAGGTACCGACCTCGAGACTATACGGTTAACTTGGACGGGCAGGTGGCTGAGGCGGGCGTCAAGCCTGTCCGGTTAAAAGAGCGGAAGCTCACCTTTGACCCCATGACGAGACAGATCAAACCTCTGACCCAGAAAGAGCCAGTGCGGGCAGACAGCCCTGTGCACATGGAGCAGCAGTCCAGGACAGAGCTGGACAAGCAGGAGGCCAAGGCCAGCCTCCAGAGCCCCTTCGAACAGACGAACTGGAAGGAGCTGTCACGCAACGAGATCATCCAGTCCTACCTGAGCCGGCAGAGCAGCCTGCTCTCATCATCGGGCGCGCAGACCCCAGGGGCTCACCACTTCATGTCTGAGTACCTGAAGCAGGAGGAGAGCACCCGGCAAGGGGCCAGGCAGCTGCATGTGCTGGTGCCTCAAAGCCCGCCCACGGACCTCCCTGGTCTGACCCGGGAGGTCACACAGGACGATCTCGACAGAATCCAGGCCAGCCAGTGGCCGGGGGTGAACGGGTGTCAGGACACACAGGGTAACTGGTATGACTGGACGCAGTGCATATCGCTCGATCCGCACGGCGACGACGGGCGCTTGAACATTCTGCCTTATGTCTGCTTGGACTGACCGGCCTGTCAGCCACAAAGTGCATTCCCATCTTGCAGAAGCCGGGTGGGCGGGCAGGCAGGTGGGCAGGTGGCCGGGGCCCAGCTGCCTCCTGCGCTGGGAACTCGGGGAGTCCGGCCCAGGCGGGAGGGAGGGGGCGGGAGTCACGCGGTCTCTCTGCGCTCTTCCCTCAAAACTCTTTTTGTGAAATGCTGCTACCAGTTTACTAACAAAATTGCGAAGAAGGACCGCGTGGAAGGAAGGACGGCAAAGTGAGTTCAGAACTCTATAGCAAACCAGCTATAAAAAGCGTTAGTCCCTCACCCCCAAAGAGGTGCGGACACTTTCCAGCACCTGAAAGCTGGGGCCTCAGTTGCAGGCAGGCACAGAAAACCTGTGGGAGAGGTCACCTTTAACACAGCAACAGAAGCACGCATCTCATCTCTCTTGCATTTTCTGTTCTTTAATTTGGCCCTGAGTGTCTTGAGACAGTGGGCCATGCCACTGCCTCTGTTTGCTCCCTACCCAGCCACTGTCAGGCCAGTGTTGTCTGTCATGTGCCAGAAGCTTCTCAGCTGTGGTGAGCCACTGGCATTGGGCAGGCGGGCCAGCTGGCCAGCCAGTGTGACCCACACTCCATGGGCAGCCACCTGTTTATATCTGGTTTCAGTTATAACCCAGTTTTTAAAGAAATGCTGCAAAAATTTAAGTTTTCTCATGTTTATTTTAAACAATTCCTCTTCCATCAGACCACCAGACAAAAAAACCTTTCCTTTCTTCCTCCCTTTTCTTTTTTCCCTTCCTGTACACATCTAGAAAACTTCACCTTTCTAGAGTCCCCCCAAAACAACACAAAAGTTATTGTGGGTGCTACTGGTTTTATGCTGTACTGTGGGGCGAGGGGGAAGACCTGTCTGTACGCTGGAAACACTCATAACCATTCCTTTAGATTCGTTTGCCTTATGGTTATTTGTCATAAACGCGATTTGCAAAAACAAGGAGCCTTAGTGAATGTACAGTACCTAGACTTCTGTGTTCTCAGGACGCAGAAGGGAGCAACTTTGCTATTTGGTCCAGTAAGTGGACACCTTGTGATATAAATGTGGAAATAAAAAAAAAAAAAAAACCA)$ MAATDLSYGLYRDPVCLQEKTEVERVVADCLTNCYQDSVTFDDLAVDFTPEEWTLLDPTQRNLYRDVMLENYKNLATVGYQLFKPSLISWLEQEESRTVQRGDFQASEWKVQLKTKELALQQDVLGEPTSSGIQM|IRNMVAVLEVISSLEKYPITKEALEETRLGKLINDVRKKTKNEELAKRAKKLLRSWQKLIEPAHQHEAALRGLAGATGSANGGAHNCRPEVGAAGPPRSIHDLKSRNDLQRLPGQRLDRLGSRKRRGDQRDLGHPGPPPKVSKASHDPLVPNSSPLPTNGISGSPESFASSLDGSGHAGPEGSRLERDENDKHSGKIPVNAVRPHTSSPGLGKPPGPCLQPKASVLQQLDRVDETPGPPHPKGPPRCSFSPRNSRHEGSFARQQSLYAPKGSVPSPSPRPQALDATQVPSPLPLAQPSTPPVRRLELLPSAESPVCWLEQPESHQRLAGPGCKAGLSPAEPLLSRAGFSPDSSKADSDAASSGGSDSKKKKRYRPRDYTVNLDGQVAEAGVKPVRLKERKLTFDPMTRQIKPLTQKEPVRADSPVHMEQQSRTELDKQEAKASLQSPFEQTNWKELSRNEIIQSYLSRQSSLLSSSGAQTPGAHHFMSEYLKQEESTRQGARQLHVLVPQSPPTDLPGLTREVTQDDLDRIQASQWPGVNGCQDTQGNWYDWTQCISLDPHGDDGRLNILPYVCLD* 11BR051 ENSG00000174652.19 ENSG00000141979.4 -/- -/- chr19:9415654 chr19:16578409 CDS/splice-site CDS/splice-site duplication 9 11 0 58 35 high in-frame . . . . ENSG00000174652.19 ENSG00000141979.4 ENST00000592904.6 ENST00000409035.1 upstream downstream . ^(GTGTTTTCCGGCGCTTTCTCCGCGCCGCCAAACCCGTTTTCTTCCTGGTGGCGTTTGGGCTTAATACAGCTTTGGCGAGGTCGGATGACGGGTGGGAGCCAGCGGTGGAAGGGGTGGCGAAAGTACCGGTTTGCCCCAGGCCGCCGAGGGGCCTCCTTAGAGAGACCTTGCCTGCTCCGCTCGCGTCCGCCGGGGCCGCGCGGGTCCTCCTGGCGCCGCCAGGTTCAAAAAGCCACTCGAGTTGTCACTGCGACGGCCCTGGGCCAGGAGCCGTTTCGGGATCTGTC___AAACAACGAGTTTTCGTCGTTCGAATCAGGTTGACTGGTCCTTCATCCCCCCAATCTCCCGTACCTGGCGAGTCCAGCTCGTCGCG___GCCTGTACCTCCCCACAGAGCTTCAAAACGGGCTTTTAGGAAGAAGGAATGGAGGCTTTGAA___GCAATGCTAAGAAAAGAGTGATATGCAAGCTGAGACCAAAAATATGGTATGATTTAGCCATACTGAAGGGGAAGGAAATAAGAGCTGGGCAAAGCATTCTGTGAATTGGCTGACTCCACTTCTATGGTGAGAGAGAGGAGTGCATCAAAGATTACTCCCAG___TAGAGATGGTTTCAGCATGTTGGCCAGTCTGGTCTCAGACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGTATAAGCCACTGTGCCTGGCCAAA___GATACCGTTAACCCTGGATAAAGAGAATGGAGGTTACCTCTGTCCGTGTAGATTCCTAAGCTGTCCTGGAGTGATCCTTGGAGTAAAGGAAAGGTGCTTTGAAGCACATTCAGCCATCAGCCCTGTGGGATGGCAGCCACTGATTTGTCCTATG___GTCTTTACAGGGACCCAGTCTGCCTTCAAGAAAAGACAGAAGTAGAAAGGGTGGTGGCTGACTGTCTGACAAATTGTTATCAG___GATTCAGTGACTTTTGATGATCTGGCTGTGGACTTCACCCCAGAAGAATGGACTTTACTGGACCCAACTCAGAGAAACCTCTACAGAGATGTGATGCTGGAGAACTACAA)GAATTTGGCCACAGTAG___GATATCAGCTCTTCAAACCCAGTCTGATCTCTTGGCTGGAACAAGAAGAGTCTAGGACAGTGCAGAGAGGTGATTTCCAAG___CTTCAGAATGGAAAGTGCAACTTAAAACCAAAGAGTTAGCCCTTCAGCAGGATGTTTTGGGGGAGCCAACCTCCAGTGGGATTCAAATG|ATCCGGAACATGGTGGCGGTGCTGGAAGTCATCTCCAGCCTGGAGAAATACCCTATTACCAAAGAGGCACTTGAG___GAAACACGACTTGGGAAGCTCATCAACGACGTCCGCAAGAAAACCAAGAACGAGG(AGCTCGCCAAGCGGGCCAAGAAGCTGCTGCGGAGCTGGCAGAAGCTCATCGAGCCGGCACACCAGCATGAGGCGGCGCTGCGGGGGCTGGCGGGGGCCACCGGCTCTGCCAACGGGGGCGCACACAACTGCCGGCCGGAGGTGGGGGCGGCTGGCCCACCCAGGAGCATCCATGACCTGAAGAGCCGCAATGACCTCCAGAGGCTGCCCGGGCAGCGGCTGGACAGGCTGGGCAGCCGCAAGCGCCGGGGTGACCAGCGTGACCTCGGCCACCCAGGGCCGCCACCCAAGGTCTCCAAAGCTAGCCACGACCCCCTGGTCCCCAACTCATCCCCCCTCCCCACCAACGGGATCAGTGGGAGTCCAGAGAGCTTCGCCAGCTCCCTGGATGGCAGTGGGCATGCAGGCCCAGAGGGCAGCCGCCTGGAGCGTGACGAGAATGACAAGCACAGTGGCAAGATCCCCGTCAACGCCGTGCGACCGCACACCAGCTCCCCGGGCCTGGGCAAGCCCCCTGGACCCTGCTTGCAGCCAAAGGCTTCGGTGCTGCAGCAGCTGGACAGGGTGGACGAGACTCCGGGGCCTCCCCATCCCAAGGGACCCCCTCGCTGCTCTTTCAGTCCTCGGAACTCACGGCATGAGGGCTCCTTTGCCCGGCAGCAGAGCTTGTATGCACCCAAGGGCTCCGTGCCCAGCCCCTCACCGCGGCCCCAGGCACTCGATGCCACACAGGTGCCGTCACCGCTTCCACTGGCACAGCCGTCCACACCCCCCGTACGGCGGCTCGAGCTGCTGCCCAGTGCGGAAAGCCCAGTGTGCTGGCTTGAGCAGCCTGAGAGCCACCAGCGGCTGGCGGGGCCGGGCTGCAAGGCAGGGCTGTCCCCAGCCGAGCCCCTCCTGTCCCGGGCAGGCTTTTCCCCAGACTCCTCCAAGGCGGACAGTGATGCTGCCTCCTCAGGGGGCTCGGACAGTAAAAAGAAGAAGAG___GTCTTGCGAGATTCACGGATCCACCATCTCCGGCTGCTCAACATCCTGGGCTGCCACGCCGTCTTCTTTATGATCCCCACCTGGGTTCTGGTGGACCTCTCGGCTTTCCTGGTCAGCAGCGACTTG___ACCAAGTACGATGCAAACCAGCAAGCCAGGAAGCACCTCCTCCCCGTCACCACAGCAGACCTGAGCAGCAAGGAGCGTCACCGGAGCCCACTGGAGAAGCCCCACAACGGCCTCCTCTTCCCCCAGCACGGGGACTATCA___GCTGGAGCGGCTCAGGCGGCCTCGGTGCGAAGGAGCAAGGGATCCAGGACCCCATCAAGGGCGGGGACGTCCGGGATAAGTGGGACCAGTATAAAGGCGTGGGCGTGGCTCTGGATGACCCCTATGAGAACTACCGCAGGAACAAGAGCTACTCCTTCATCGCCCGCATGAAGGCCAGGGACGAGT___AGCATTGGAGAAACCGATGGTTGCAGTCCACCAATGACTCCCGATTTGGGCATTTTAGACTTTCGTCGGGCAAGTTTTATGGTCATAAAGAGAAAGATAAAG___GACTGGGAGAAGCATTTTCTGGACGCCAGCACCAGCAAGCAGAGCGACTGGAACGGTGACCTGGATGGGGACTGGCCAGCGCCGATGCTCCAGAAGCCCCCGTACCAG___GATGGCCTGAAACCAGAAGGTATTCATAAAGACGTCTGGCTCCACCGTAAGATGAAGAATACCGACTATTTGACGCAGTATGACCTCTCAGAATTTGAGAACATTGGTGCCATTGGCCTGGAGCTTTGGCAG___GTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAG___GGTCCAGAAAGGGAGATGGATGCCATACAGGCCAAGGAGGAAATGAAGAAGGCCCGCGAGGAAGAGGAGGAAGAGCTGCTGTCGGGAAAAATTAACAGGCACGAACATTACTTCAATCAATTTCACAGAAGGAATGAACTTTAGTGATCCCCATTGGATATAAGGATGACTGGTAAAATCTCATTGCTACTTTAATCTATGTTTCAAA)$ MAATDLSYGLYRDPVCLQEKTEVERVVADCLTNCYQDSVTFDDLAVDFTPEEWTLLDPTQRNLYRDVMLENYKNLATVGYQLFKPSLISWLEQEESRTVQRGDFQASEWKVQLKTKELALQQDVLGEPTSSGIQM|IRNMVAVLEVISSLEKYPITKEALEETRLGKLINDVRKKTKNEELAKRAKKLLRSWQKLIEPAHQHEAALRGLAGATGSANGGAHNCRPEVGAAGPPRSIHDLKSRNDLQRLPGQRLDRLGSRKRRGDQRDLGHPGPPPKVSKASHDPLVPNSSPLPTNGISGSPESFASSLDGSGHAGPEGSRLERDENDKHSGKIPVNAVRPHTSSPGLGKPPGPCLQPKASVLQQLDRVDETPGPPHPKGPPRCSFSPRNSRHEGSFARQQSLYAPKGSVPSPSPRPQALDATQVPSPLPLAQPSTPPVRRLELLPSAESPVCWLEQPESHQRLAGPGCKAGLSPAEPLLSRAGFSPDSSKADSDAASSGGSDSKKKKRSCEIHGSTISGCSTSWAATPSSL* 11BR051 ENSG00000174652.19 ENSG00000268790.5 -/- -/- chr19:9415654 chr19:16578409 CDS/splice-site 3'UTR/splice-site duplication 9 11 0 58 35 high out-of-frame . . . . ENSG00000174652.19 ENSG00000268790.5 ENST00000592904.6 ENST00000593991.5 upstream downstream . ^(GTGTTTTCCGGCGCTTTCTCCGCGCCGCCAAACCCGTTTTCTTCCTGGTGGCGTTTGGGCTTAATACAGCTTTGGCGAGGTCGGATGACGGGTGGGAGCCAGCGGTGGAAGGGGTGGCGAAAGTACCGGTTTGCCCCAGGCCGCCGAGGGGCCTCCTTAGAGAGACCTTGCCTGCTCCGCTCGCGTCCGCCGGGGCCGCGCGGGTCCTCCTGGCGCCGCCAGGTTCAAAAAGCCACTCGAGTTGTCACTGCGACGGCCCTGGGCCAGGAGCCGTTTCGGGATCTGTC___AAACAACGAGTTTTCGTCGTTCGAATCAGGTTGACTGGTCCTTCATCCCCCCAATCTCCCGTACCTGGCGAGTCCAGCTCGTCGCG___GCCTGTACCTCCCCACAGAGCTTCAAAACGGGCTTTTAGGAAGAAGGAATGGAGGCTTTGAA___GCAATGCTAAGAAAAGAGTGATATGCAAGCTGAGACCAAAAATATGGTATGATTTAGCCATACTGAAGGGGAAGGAAATAAGAGCTGGGCAAAGCATTCTGTGAATTGGCTGACTCCACTTCTATGGTGAGAGAGAGGAGTGCATCAAAGATTACTCCCAG___TAGAGATGGTTTCAGCATGTTGGCCAGTCTGGTCTCAGACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGTATAAGCCACTGTGCCTGGCCAAA___GATACCGTTAACCCTGGATAAAGAGAATGGAGGTTACCTCTGTCCGTGTAGATTCCTAAGCTGTCCTGGAGTGATCCTTGGAGTAAAGGAAAGGTGCTTTGAAGCACATTCAGCCATCAGCCCTGTGGGATGGCAGCCACTGATTTGTCCTATG___GTCTTTACAGGGACCCAGTCTGCCTTCAAGAAAAGACAGAAGTAGAAAGGGTGGTGGCTGACTGTCTGACAAATTGTTATCAG___GATTCAGTGACTTTTGATGATCTGGCTGTGGACTTCACCCCAGAAGAATGGACTTTACTGGACCCAACTCAGAGAAACCTCTACAGAGATGTGATGCTGGAGAACTACAA)GAATTTGGCCACAGTAG___GATATCAGCTCTTCAAACCCAGTCTGATCTCTTGGCTGGAACAAGAAGAGTCTAGGACAGTGCAGAGAGGTGATTTCCAAG___CTTCAGAATGGAAAGTGCAACTTAAAACCAAAGAGTTAGCCCTTCAGCAGGATGTTTTGGGGGAGCCAACCTCCAGTGGGATTCAAATG|ATCCGGAACATGGTGGCGGTGCTGGAAGTCATCTCCAGCCTGGAGAAATACCCTATTACCAAAGAGGCACTTGAG___GAAACACGACTTGGGAAGCTCATCAACGACGTC$ MAATDLSYGLYRDPVCLQEKTEVERVVADCLTNCYQDSVTFDDLAVDFTPEEWTLLDPTQRNLYRDVMLENYKNLATVGYQLFKPSLISWLEQEESRTVQRGDFQASEWKVQLKTKELALQQDVLGEPTSSGIQM|irnmvavlevisslekypitkealeetrlgklindv 11BR051 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 4 1 104 34 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGG)CAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG___AACAGACAAAAGGACGTGGAATGTACTTTCTGCTACAGCCATTACAGTCAACTAGATTTGAGTGCTGCCGCTGGTAAGTTAATTGAAT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR051 ENSG00000279334.1(5025),ENSG00000280097.1(25873) ENSG00000196498.13 ./- -/- chr12:124567308 chr12:124495368 intergenic 5'UTR/splice-site deletion/read-through 7 6 0 32 52 high . . |G-protein_pathway_suppressor_2-interacting_domain(100%),Myb-like_DNA-binding_domain(100%) . . . ENSG00000196498.13 . ENST00000404621.5 upstream downstream duplicates(1) GGGAGGATCGCGTCCCGACCCGAGGCCGGGCCTGCTGCGCGCCCCCAGCCCGATCGGCACCGCCACTTGCCTGAGCGCCCCGGCGGCCCGAGCGCGCCCCAAGCCCGGGCGCCACCGCTGCCACCTCCGCGAG|GTGCCAGTGACGGGGTGGCCCGTGAGCTGATGACGAGGACTGGCTTTTAATCCTTGGTGGTGATTAAGAGAAAGCTTATTGGGGCCTGGGAGCAGCTCCCCGCCGACCCCCACCACCATGTCGGGATCCACACAGCCTGTGGCACAGACGTGGAGGGCCACTGAGCCCCGCTACCCGCCCCACAGCCTTTCCTACCCAGTGCAGATCGCCCGG(ACGCACACG___GACGTCGGGCTCCTGGAGTACCAGCACCACTCCCGCGACTATGCCTCCCACCTGTCGCCCGGCTCCATCATCCAGCCCCAGCGGCGGAGGCCCTCCCTGCTGTCTGAGTTCCAGCCCGGGAATGAACG___GTCCCAGGAGCTCCACCTGCGGCCAGAGTCCCACTCATACCTGCCCGAGCTGGGGAAGTCAGAGATGGAGTTCATTGAAAGCAAGCGCCCTCGGCTAGAGCTGCTGCCTGACCCCCTGCTGCGACCGTCACCCCTGCTGGCCACGGGCCAGCCTGCGGGATCTGAAGACCTCACCAAG___GACCGTAGCCTGACGGGCAAGCTGGAACCGGTGTCTCCCCCCAGCCCCCCGCACACTGACCCTGAGCTGGAGCTGGTGCCGCCACGGCTGTCCAAGGAGGAGCTGATCCAGAACATGGACCGCGTGGACCGAGAGATCACCATGGTAGAGCAGCAGATCTCTAAGCTGAAGAAGAAGCAG___CAACAGCTGGAGGAGGAGGCTGCCAAGCCGCCCGAGCCTGAGAAGCCCGTGTCACCGCCGCCCATCGAGTCGAAGCACCGCAGCCTGGTGCAGATCATCTACGACGAGAACCGG___AAGAAGGCTGAAGCTGCACATCGGATTCTGGAAGGCCTGGGGCCCCAGGTGGAGCTG___CCGCTGTACAACCAGCCCTCCGACACCCGGCAGTATCATGAGAACATCAAAAT___AAACCAGGCGATGCGGAAGAAGCTAATCTTGTACTTCAAGAGGAGGAATCACGCTCGGAAACAATGG___GAGCAGAAGTTCTGCCAGCGCTATGACCAGCTCATGGAGGCCTGGGAGAAGAAGGTGGAGCGCATCGAGAACAACCCCCGGCGGCGGGCCAAGGAGAGCAAGGTGCGCGAGTACTACGAGAAGCAGTTCCCTGAGATCCGCAAGCAGCGCGAGCTGCAGGAGCGCATGCAGAG___GGTGGGCCAGCGGGGCAGTGGGCTGTCCATGTCGGCCGCCCGCAGCGAGCACGAGGTGTCAGAGATCATCGATGGCCTCTCAGAGCAGGAG___AACCTGGAGAAGCAGATGCGCCAGCTGGCCGTGATCCCGCCCATGCTGTACGACGCTGACCAGCAGCGCATCAAGTTCATCAACATGAACGGGCTTATGGCCGACCCCATGAAGGTGTACAAAGACCGCCAGGTCATGAACATGTGGAGTGAGCAGGAGAAGGAGACCTTCCGGGAGAA___GTTCATGCAGCATCCCAAGAACTTTGGCCTGATCGCATCATTCCTGGAGAGGAAG___ACAGTGGCTGAGTGCGTCCTCTATTACTACCTGACTAAGAAGAATGAGAACTATAAGAGCCTGGTGAGACGGAGCTATCGGCGCCGCGGCAAGAGCCAG___CAGCAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCCCATGCCCCGCAGCAGCCAGGAGGAGAAAGATGAGAAGGAGAAGGAAAAGGAGGCGGAGAAGGAGGAGGAGAAGCCGGAGGTGGAGAACGACAAGGAAGACCTCCTCAA___GGAGAAGACAGACGACACCTCAGGGGAGGACAACGACGAGAAGGAGGCTGTGGCCTCCAAAGGCCGCAAAACTGCCAACAGCCAGGGAAGACGCAAAGGCCGCATCACCCGCTCAATGGCTAATGAGGCCAACAGCGAGGAGGCCATCACCCCCCAGCAGAGCGCCGAGCTGG___CCTCCATGGAGCTGAATGAGAGTTCTCGCTGGACAGAAGAAGAAATGGAAACAGCCAAGAAAG___GTCTCCTGGAACACGGCCGCAACTGGTCGGCCATCGCCCGGATGGTGGGCTCCAAGACTGTGTCGCAGTGTAAGAACTTCTACTTCAACTACAAGAAGAGGCAGAACCTCGATGAGATCTTGCAGCAGCACAAGCTGAAGATG___GAGAAGGAGAGGAACGCGCGGAGGAAGAAGAAGAAAGCGCCGGCGGCGGCCAGCGAGGAGGCTGCATTCCCGCCCGTGGTGGAGGATGAGGAGATGGAGGCGTCGGGCGTGAGCGGAAATGAGGAGGAGATGGTGGAGGAGGCTGAAG___CCACTGTCAACAACAGCTCAGACACCGAGAGCATCCCCTCTCCTCACACTGAGGCCGCCAAGGACACAGGGCAGAATGGGCCCAAGCCCCCAGCCACCCTGGGCGCCGACGGGCCACCCCCAGGGCCACCCACCCCACCACCGGAGGACATCCCGGCCCCCACTGAGCCCACCCCGGCCTCTGAAGCCACCGGAGCCCCTACGCCCCCACCAGCACCCCCATCGCCCTCTGCACCTCCTCCTGTGGTCCCCAAGGAGGAGAAGGAGGAGGAGACCGCAGCAGCGCCCCCAGTGGAGGAGGGGGAGGAGCAGAAGCCCCCCGCGGCTGAGGAGCTGGCAGTGGACACAGGGAAGGCCGAGGAGCCCGTCAAGAGCGAGTGCACGGAGGAAGCCGAGGAGGGGCCGGCCAAGGGCAAGGACGCGGAGGCCGCTGAGGCCACGGCCGAGGGGGCGCTCAAGGCAGAGAAGAAGGAGGGCGGGAGCGGCAGGGCCACCACAGCCAAGAGCTCGGGCGCCCCCCAGGACAGCGACTCCAGTGCTACCTGCAGTGCAGACGAGGTGGATGAGGCCGAGGGCGGCGACAAGAACCG___GCTGCTGTCCCCAAGGCCCAGCCTCCTCACCCCGACTGGCGACCCCCGGGCCAATGCCTCACCCCAGAAGCCACTGGACCTGAAGCAGCTGAAGCAGCGAGCGGCTGCCATCCCCCCCATC___CAGGTCACCAAAGTCCATGAGCCCCCCCGGGAGGACGCAGCTCCCACCAAGCCAGCTCCCCCAGCCCCACCGCCACCGCAAAACCTGCAGCCGGAGAGCGACGCCCCTCAGCAGCCTGGCAGCAGCCCCCGGGGCAAGAGCAGGAGCCCGGCACCCCCCGCCGACAAGGAGG___CAGAGAAGCCTGTGTTCTTCCCAGCCTTCGCAGCCGAGGCCCAGAAGCTGCCTGGGGACCCCCCTTGCTGGACTTCCGGCCTGCCCTTCCCCGTGCCCCCCCGTGAGGTGATCAAGGCCTCCCCGCATGCCCCGGACCCCTCAGCCTTCTCCTACGCTCCACCTG___GTCACCCACTGCCCCTGGGCCTCCATGACACTGCCCGGCCCGTCCTGCCGCGCCCACCCACCATCTCCAACCCGCCTCCCCTCATCTCCTCTGCCAAGCACCCCAGCGTCCTCGAGAGGCAAATAGGTGCCATCTCCCAA___GGAATGTCGGTCCAGCTCCACGTCCCGTACTCAGAGCATGCCAAGGCCCCGGTGGGCCCTGTCACCATGGGGCTGCCCCTGCCCATGGACCCCAAAAAGCTGG___CACCCTTCAGCGGAGTGAAGCAGGAGCAGCTGTCCCCACGGGGCCAGGCTGGGCCACCGGAGAGCCTGGGGGTGCCCACAGCCCAGGAGGCGTCCGTGCTGAGAG___GGACAGCTCTGGGCTCAGTTCCGGGCGGAAGCATCACCAAAGGCATTCCCAGCACACGGGTGCCCTCGGACAGCGCCATCACATACCGCGGCTCCATCACCCAC___GGCACGCCAGCTGACGTCCTGTACAAGGGCACCATCACCAGGATCATCGGCGAGGACAGCCCGAGTCGCTTGGACCGCGGCCGGGAGGACAGCCTGCCCAAGGGCCACGTCATCTACGAAGGCAAGAAGGGCCACGTCTTGTCCTATGAGG___GTGGCATGTCTGTGACCCAGTGCTCCAAGGAGGACGGCAGAAGCAGCTCAGGACCCCCCCATGAGACGGCCGCCCCCAAGCGCACCTATGACATGATGGAGGGCCGCGTGGGCAGAGCCATCTCCTCAGCCAGCATCGAAG___GTCTCATGGGCCGTGCCATCCCGCCGGAGCGACACAGCCCCCACCACCTCAAAGAGCAGCACCACATCCGCGGGTCCATCACACAAG___GGATCCCTCGGTCCTACGTGGAGGCACAGGAGGACTACCTGCGTCGGGAGGCCAAGCTCCTAAAGCGGGAGGGCACGCCTCCGCCCCCACCGCCCTCACGGGACCTGACCGAGGCCTACAAGACGCAGGCCCTGGGCCCCCTGAAGCTGAAGCCGGCCCATGAGGGCCTGGTGGCCACGGTGAAGGAGGCGGGCCGCTCCATCCATGAGATCCCGCGCGAGGAGCTGCGGCACACGCCCGAGCTGCCCCTGGCCCCGCGGCCGCTCAAGGAGGGCTCCATCACGCAG___GGCACCCCGCTCAAGTACGACACCGGCGCGTCCACCACTGGCTCCAAAAAGCACGACGTACGCTCCCTCATCGGCAGCCCCGGCCGGACGTTCCCACCCGTGCACCCGCTGGATGTGATGGCCGACGCCCGGGCACTGGAACGTGCCTGCTACGAGGAGAGCCTGAAGAGCCGGCCAGGGACCGCCAGCAGCTCGGGGGGCTCCATTGCGCGCGGCGCCCCGGTCATTGTGCCTGAGCTGGGTAAGCCGCGGCAGAGCCCCCTGACCTATGAGGACCACGGGGCACCCTTTGCCGGCCACCTCCCACGAGGTTCGCCCGTGACCACGCGGGAGCCCACGCCGCGCCTGCAGGAGG___GCAGCCTTTCGTCCAGCAAGGCATCCCAGGACCGAAAGCTGACGTCGACGCCTCGTGAGATCGCCAAGTCCCCGCACAGCACCGTGCCCGAGCACCACCCACACCCCATCTCGCCCTATGAGCACCTGCTTCGGGGCGTGAGTGGCGTGGACCTGTATCGCAGCCACATCCCCCTGGCCTTCGACCCCACCTCCATACCCCGCGGCATCCCTCTGGACGCAG___CCGCTGCCTACTACCTGCCCCGACACCTGGCCCCCAACCCCACCTACCCGCACCTGTACCCACCCTACCTCATCCGCGGCTACCCCGACACGGCGGCGCTGGAGAACCGGCAGACCATCATCAATGACTACATCACCTCGCAGCAGATGCACCACAACGCGGCCACCGCCATGGCCCAGCGAGCTGATATGCTGAGGGGCCTCTCGCCCCGCGAGTCCTCGCTGGCACTCAACTACGCTGCGGGTCCCCGAG___GCATCATCGACCTGTCCCAAGTGCCACACCTGCCTGTGCTCGTGCCCCCGACACCAGGCACCCCAGCCACCGCCATGGACCGCCTTGCCTACCTCCCCACCGCGCCCCAGCCCTTCAGCAGCCGCCACAGCAGCTCCCCACTCTCCCCAG___GAGGTCCAACACACTTGACAAAACCAACCACCACGTCCTCGTCCGAGCGGGAGCGAGACCGGGATCGAGAGCGGGACCGGGATCGGGAGCGGGAAAAGTCCATCCTCACGTCCACCACGACGGTGGAGCACGCACCCATCTGGAGACCTG___GTACAGAGCAGAGCAGCGGCAGCAGCGGCGGGGGTGGGGGCAGCAGCAGCCGCCCCGCCTCCCACTCCCATGCCCACCAGCACTCGCCCATCTCCCCTCGGACCCAGGATGCCCTCCAGCAGAGACCCAGTGTGCTTCACAACACAGGCATGAAGGGTATCATCACCGCTGTGGAGCCCAGCACGCCCACGGTCCTGAG___GTCCACCTCCACCTCCTCACCCGTTCGCCCGGCTGCCACATTCCCACCTGCCACCCACTGCCCACTGGGCGGCACCCTCGATGGGGTCTACCCTACCCTCATGGAGCCCGTCTTGCTGCCCAAGGAGGCCCCCCGGGTCGCCCGGCCAGAGCGGCCCCGAGCAGACACCGGCCATGCCTTCCTCGCCAAGCCCCCAGCCCGCTCCGGGCTGGAGCCCGCCTCCTCCCCCAGCAAGGGCTCGGAGCCCCGGCCCCTAGTGCCTCCTGTCTCTGGCCACGCCACCATCGCCCGCACCCCTGCGAAGAACCTCGCACCTCACCACGCCAGCCCGGACCCGCCGGCGCCACCTGCCTCGGCCTCGGACCCGCACCGGGAAAAGACTCAAAGTAAACCCTTTTCCATCCAGGAACTGGAACTCCGTTCTCTGG___GTTACCACGGCAGCAGCTACAGCCCCGAAGGGGTGGAGCCCGTCAGCCCTGTGAGCTCACCCAGTCTGACCCACGACAAGGGGCTCCCCAAGCACCTGGAAGAGCTCGACAAGAGCCACCTGGAGGGGGAGCTGCGGCCCAAGCAGCCAG___GCCCCGTGAAGCTTGGCGGGGAGGCCGCCCACCTCCCACACCTGCGGCCGCTGCCTGAGAGCCAGCCCTCGTCCAGCCCGCTGCTCCAGACCGCCCCAGGGGTCAAAGGTCACCAGCGGGTGGTCACCCTGGCCCAGCACATCAGT___GAGGTCATCACACAGGACTACACCCGGCACCACCCACAGCAGCTCAGCGCACCCCTGCCCGCCCCCCTCTACTCCTTCCCTGGGGCCAGCTGCCCCGTCCTGGACCTCCGCCGCCCACCCAGTGACCTCTACCTCCCGCCCCCGGACCATGGTGCCCCGGCCCGTGGCTCCCCCCACAGCGAAGGGGGCAAGAG___GTCTCCAGAGCCAAACAAGACGTCGGTCTTGGGTGGTGGTGAGGACGGTATTGAACCTGTGTCCCCACCGGAGGGCATGACGGAGCCAGGGCACTCCCGGAGTGCTGTGTACCCGCTGCTGTACCGGGATGGGGAACAGACGGAGCCCAG___CAGGATGGGCTCCAAGTCTCCAGGCAACACCAGCCAGCCGCCAGCCTTCTTCAGCAAGCTGACCGAGAGCAACTCCGCCATGGTCAAGTCCAAGAAGCAAGAGATCAACAAGAAGCTGAACACCCACAACCGGAATGAGCCTGAATACA___ATATCAGCCAGCCTGGGACGGAGATCTTCAATATGCCCGCCATCACCGGAACAG___GCCTTATGACCTATAGAAGCCAGGCGGTGCAGGAACATGCCAGCACCAACATGGGGCTGGAGGCCATAATTAGAAAGGCACTCATGG___GTGGCGGCGGGAAGGCCAAGGTCTCTGGCAGACCCAGCAGCCGAAAAGCCAAGTCCCCGGCCCCGGGCCTGGCATCTGGGGACCGGCCACCCTCTGTCTCCTCAGTGCACTCGGAGGGAGACTGCAACCGCCGGACGCCGCTCACCAACCGCGTGTGGGAGGACAGGCCCTCGTCCGCAG___GTTCCACGCCATTCCCCTACAACCCCCTGATCATGCGGCTGCAGGCGGGTGTCATGGCTTCCCCACCCCCACCGGGCCTCCCCGCGGGCAGCGGGCCCCTCGCTGGCCCCCACCACGCCTGGGACGAGGAGCCCAAGCCACTGCTCTGCTCGCAGTACGAGACACTCTCCGACAGCGAGTGACTCAGAACAGGGCGGGGGGGGGGGCGGTGTCAGGTCCCAGCGAGCCACAGGAACGGCCCTGCAGGAGCAGGGCGGCTGCCGACTCCCCCAACCAAGGAAGGAGCCCCTGAGTCCGCCTGCGCCTCCATCCATCTGTCCGTCCAGAGCCGGCATCCTTGCCTGTCTAAAGCCTTAACTAAGACTCCCGCCCCGGGCTGGCCCTGTGCAGACCTTACTCAGGGGATGTTTACCTGGTGCTCGGGAAGGGAGGGGAAGGGGCCGGGGAGGGGGCACGGCAGGCGTGTGGCAGCCACACGCAGGCGGCCAGGGCGGCCAGGGACCCAAAGCAGGATGACCACGCACCTCCACGCCACTGCCTCCCCCGAATGCATTTGGAACCAAAGTCTAAACTGAGCTCGCAGCCCCCGCGCCCTCCCTCCGCCTCCCATCCCGCTTAGCGCTCTGGACAGATGGACGCAGGCCCTGTCCAGCCCCCAGTGCGCTCGTTCCGGTCCCCACAGACTGCCCCAGCCAACGAGATTGCTGGAAACCAAGTCAGGCCAGGTGGGCGGACAAAAGGGCCAGGTGCGGCCTGGGGGGAACGGATGCTCCGAGGACTGGACTGTTTTTTTCACACATCGTTGCCGCAGCGGTGGGAAGGAAAGGCAGATGTAAATGATGTGTTGGTTTACAGGGTATATTTTTGATACCTTCAATGAATTAATTCAGATGTTTTACGCAAGGAAGGACTTACCCAGTATTACTGCTGCTGTGCTTTTGATCTCTGCTTACCGTTCAAGAGGCGTGTGCAGGCCGACAGTCGGTGACCCCATCACTCGCAGGACCAAGGGGGCGGGGACTGCTGGCTCACGCCCCGCTGTGTCCTCCCTCCCTCCCTTCCTTGGGCAGAATGAATTCGATGCGTATTCTGTGGCCGCCATCTGCGCAGGGTGGTGGTATTCTGTCATTTACACACGTCGTTCTAATTAAAAAGCGAATTATACTCCA)$ . 11BR051 ENSG00000159842.15(41471),ENSG00000262213.1(13146) ENSG00000159842.15 ./- -/- chr17:1228793 chr17:1125367 intergenic CDS/splice-site deletion/read-through 6 4 0 14 23 high . . |C2_domain(100%),PH_domain(100%),RhoGAP_domain(100%),RhoGEF_domain(100%) . . . ENSG00000159842.15 . ENST00000302538.9 upstream downstream duplicates(1),mismatches(1) AGCGGGGGACCCGCGACCTGGAGCAGCGGGAGGCCGAGGCCAAGGGCCGCCCGGGCTCGCCCCTCGCCGCGGAGGAGACCCCCGGGCGCGAGCACCTGCCCCCGTGGCGGCGCCGCAGGTTCCTGCGGGTGCCCGAGCGGGACTCGCCCGGCCACAGCTCGCCGGAGAGAGACAGCGACGGCAGCCGGCACAGCTCCGACCGCGAGGACGACTTCTCCGCAG|ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCCCCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTCAGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCTCCTGGG___GTGGAAGCAGGGAAAGGCCTGGAGATGAGG(AAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG___CCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG___GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG___GAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG___CTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACCCTAGTCCTACAC___GACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG___ACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG___GAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG___AAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG___AGTTACCTGTTCCTACTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAGG___ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTCAAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG___ACGATGAGTCTCCAGGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCCA___ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACCAGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG___GAGTTTGAGATCGAGCTGGAGGGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAACAAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG___CTGGACCCACAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG___ATCAAAGTGGAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAGCAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA___GCGGGAGCGCTCCAAGGTGCCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGCATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCCA___ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACGCTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCCTTCATGGAGGGCATCG___CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTGCTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAAAG___GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTTGGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCGGACATCTGGTCCCATGACGTCATGGCGCAG___GTCCAGGTCCTCCTCTACTACCTGCAGCACCCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAGCCCGAGGCAGGGTGGCTGCGGGCGGGTGGTGGAACCAGCCCCTCCAGCCTGGGGTCCAACTCAGACTTGAAAGACTGCAATAGAAAACTCCCAAACCCAGCACTCCAGACTCGAGGGAAGCCAGCTTCCAAGAACTGGAATGCGTACGTCTTTTGTGCCACCTTGTACAAAGCCGGCTGCCCAGCCCCAGCCTCACCACCGCATCCCACCTCCTGCCCTCCATACCTCTAGTTGTGTCTGATGCTCCGTGCTGTTCGGGAATTGTTTTATGTACACTTGTCAGGCAGAAAAGGTAGTGACCGGCCCGGCGTGGGCACACAGACAGCCCGCTTTGTTCTTTCATTTCCTCCAGCACTTTCTTTCCGCCTGAGTCCAGCCCAAGGCCTTTTATTTTGCGCTGTGTAACTGCTGCCAGCTTCTCTCTTGGCCCTGCTCCCAGATGGCGGTCTCCTGGCAGCCTCCCCTCAGTCTTCCTCCACCCGCTCTTCCTTCCCAGCCTGCCTGCATGCATGTGCACCCTTGGTCTTCGCTCCATCGCCTTGAAAGCTCTGAAGAGGCCCTGGGTTGCCGCGGCAGCAGTGGTCTGTTTGATGCTGCCGTTTGCCGCTGCCGGCCCCTCCTCAGACTCCGCCTTTGGGAGCACACCTGCTTTGCCTTGCTGCCTGTGCAAATGTTGGACAAGCAGACACACTCACACTCGTCCCCAGCTTAGCACAGAGCTGGAGCGCCCATTTCTGGAATTTTCCGTTTGGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTGTCTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTTTCAGTTCCCTTCCCTGCTGTTCTATTTCCTTTGAGTGTAAAGACTCACAGGTGACCTGCTATCGAGATAGCCAGAGGGTCAGGAGAGAATGGGGGAGGAGGCGGTCAGGCTGCTGAGGAAACACCACAGGCTGAACGGGGGAGGAATGCACATGCCACGCTGGGTGTCCCGGGTCGCGGGGAGGCAGCTCAGCTCTTAGGAGCAAGTTGTGGGGGCTTTTCAAGAGGGGCCAGGCTTCCTGGAGGGTGACTGATGTGGCCGAAGCAGGTGTCCAGGCAGGTAGGCTGCAGCCAGGAGCTCCCTGGCACCGCAGGACCTCGTGGTACTCTTGCCTTAGATTTTACACACACTCCACAGCCAAGCACTGCCACGGTCCTCCAGGACCTGGGAAGCAAAGGCACAGGCCCACGGTGGCCAGCCATTGTGGTGCCGCCCCAGCTTCTGGATACAGCCTTTTGGGTAAACACTGGGAACTCCAGAAGTTGTGGGGAGAGTGGGGAATCAGACAGCCGCCTCTAGGGGCTGGGTTCTGCTGGGGCCTCCTTGTTGGTGCTGTAGGCACCCGCCAGGGAGCAGGGACCCGACTTGCAGACGCATTGCCCGGTACTAGGAAGGAGTGAGGTGTGTTCCCACCGTACACTTCCCACACGAGCTGCGGCTGCCAGCCTCGGGCCATCAGCCTAGGAGAGCAGATGCAGCTCCAGGGGCTCGACTTATAGCCAGTTACAGCTCCCCGGCTCTTCTGTGTGGCAGAGCGTCGTTTCCGGGCCCTCAGGGCTGGGGAGCTCAGTTCCCATTGCTTGTGCTCAGGGCTGAGTCTTAAAGAAGGGTTTGCCGGCCCTAACGCTGCAGCGCGTGCGCGGTGAGAGGCCCTTTTTGAGCCTGTTTACTCCTGTGGCCTTGGGCAGAACAGTAAATACTCTGTGCACGGAGGAAAGACATGCCCAAGAGGAAGGAAGTACTGACCATCGGCTGCCTGTGAGCAGCTTAGCAAGGAGCCCTTGCTCCCTGGGAAAGGCGGTGAACTTGAGTCTAAAGATGCAGTGCCTGGCCCTTCCTAAGGTCCCTGCCTGGCATCCGAGTGTCGGTGTGTGGCACAGAAGGCTCCTGCTTGCTTCCAAAGTGATGGACAGGAAGGGGCAGAGTGAGTCACGGCCCAGACTGGGCACCTTCGCGTCTCAGCCTCAGGGAGCCCCACAGCCCCAAGCTCGCTGAGGCAACGTGAGAACAGGCTATGGGAAGGCTGCAAAGGCTGAGAAATGCAAAGGCTCATATTTATAAATCCCACCCCCAGAGTGGGGAGGGTCAGGTGCCAGACCTGGACTAAACTGCACCAAGGAAACACCCAGCAGGGTCTCCTGTGAGCCGGGGACCATGCAGCCCGAAACCTCCAGTCACTGCGCCCGGCAGGAGTCAGGAGCCAGGGACTGTGCAGCCTGGAACCTCCAGTCACTGTGCCCAGCAGGGTGGGCTGTGCCCAGCAGGAGTCAGGCTAAGAAACGCCAGGTCTGCCTGTTCTTGCTGGGCAATGGCTGATGGCTGCCAGTTTCTGCTGATACACAGGTAGGATGGGACCCTTCATGAATATCTGACTTTAATAAGTTGGTAAGGATATATTTTTTTGTCTATGTTCTGTTTCAACTTATGTAGATTATTATAAATTGATGTAAACCACGTGAGAGGAAAATGTTAATAAAAAATGCAAAGCCCCATCATTTGCACAAAACTCAG)$ . 11BR051 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 6 4 0 24 41 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismatches(1) GTTAAAAAAAAAAGAGGTGAAACTGCGGGACCGGCGCTGCGAGTCGCTtGGgTTaGCCgaAAAaTTTtaTtTTtCAG...CACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC??????AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCC(TGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR051 ENSG00000121753.12 ENSG00000284702.1 -/- -/- chr1:31755999 chr1:31973878 CDS/splice-site exon/splice-site duplication 4 4 0 119 18 high out-of-frame . . . . ENSG00000121753.12 ENSG00000284702.1 ENST00000398542.5 ENST00000641788.1 upstream downstream . ^(ACTCGGCCCGGCGCGCGCTGCGGGCAGCGGCCGGAGCGGCCGGAGGAACCGGGTTCGGCGGCAGCGGCGGCGGCGCTCAGAGACCGAAGAGGATGCGGCACCGGCTCTCAGAGCCCGGGGCTGCGGCCGCCGCCCGCAAATAGGAGGCGGCGCGCGGCGCGGGCGGTGCTCGGGGCGGGGGAGCGGGGGAGCGGGGGGCGGCGCGGCAAGGAGGCGGCGGCGGCGGCGGCGGCAGGAGCCCGCGCCCGGCCCGGCGCCGCCCGCCCGCCCGCCCCGCGCTGCTCCGCGGCGCCTTTTCTGCACCCGCCGCCCGGGAGAGCGGGAGCCTCGGCCCTCCGCGCGGCTGCAGCTACCTACCCTGCGCCCGGCCCGGTCCCCGACTTAGGGATGGCAAACTTGCGCCCCGTGGCCGCCCCCGCCAGCGCCGGCCCCCGCTCCTGCTGCTGACGGCGCCCAG___GGCAAGGGACATAGGATGACCCCAGCCTGTCCCCTCTTACTGTCTGTGATTCTGTCCCTGCGCCTGGCCACCGCCTTCGACCCCGCCCCCAGTGCCTGCTCTGCCCTGGCCTCGGGTGTGCTCTACGGGGCCTTCTCGCTGCAGGACCTCTTTCCTACCATCGCCTCGGGCTGCTCCTGGACCCTGGAGAACCCTGACCCCACCAAGTACTCCCTCTACCTGCGCTTCAACCGCCAGGAGCAGGTGTGCGCACACTTTGCCCCCCGCCTGCTGCCCCTGGACCACTACCTGGTCAACTTTACCTGCCTGCGGCCTAGCCCCGAGGAGGCGGTGGCCCAGGCGGAGTCAGAGGTGGGGCGGCCAGAAGAGGAGGAGGCAGAGGCGGCAGCGGGGTTGGAGCTGTGCAGCGGCTCAGGCCCCTTTACCTTCCTGCACTTCGACAAGAACTTCGTGCAGCTGTGCCTGTCGGCTGAGCCCTCCGAGGCCCCGCGCCTGCTGGCGCCCGCTGCCCTAGCCTTCCGCTTTGTCGAGGTCTTGCTCATCAACAACAACAACTCTAGCCAATTCACCTGTGGTGTGCTCTGCCGCTGGAGTGAGGAGTGTGGCCGCGCTGCCGGCAGGGCCTGCGGCTTTGCTCAGCCAGGCTGCAGCTGCCCTGGAGAGGCGGGGGCC)GGCTCCACCACCACCACATCTCCAGGCCCTCCTGCTGCCCACACCCTGTCCAATGCCCTGGTGCCCGGGGGCCCAGCCCCACCTGCTGAGGCCGATTTGCACTCGGGGAGCAGCAATGATCTGTTCACAACCGAGATGAGATATG|ATGGAGTCTCTCTCTGTAGCCCAGACTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTTCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTGTAGTAGAGATGAGGTTTCACCATGTTCGCCAGGCTGGTCTTGAAC(TCCTGACCTTGTGATCCATCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGACAATTTTTAAATTTTTTGTAGAGACAAGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACCCCTGGGCTCAAGTGATCCTCCAATTTCAGCTTCCCAAAGTGTGCTGGGATTTACAGATGTGAGCCACTGCACCCAGCCTGTATGGTTTTTTTTTTTTTTGGTTTTGTTTTTTGTTTTTGAGACAGAGTCTCTCTGTACCACCCAGGCTGGAGTGCAGTAGCGTGATCTTGACTCACTGCAACCTCCCATCTCCTGGGTTCAAGCGATTCTTGTGCCTCACCTTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACGCCTGGGCAGTTTTTGTATTTTTAGTGGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGACTCAAGTGATCCACCTGACTCGGCTTCTCAAAGTGCTGGGATTACAGGCGTGAACCATCCCGTCTGGCCTGTATGTTTAATTGAACTTAATAATAGTCATAATTTTTTCAGAGCCTCCGGTGAACCACTGACTTAACTAATCATCAAGTTTAATCCTCACAACAACCTTGTATCATAGCTACTGTTTTTCTTTCTACTTAATATAAGAGGGAAGTGTGACTGGTGTAAGGTCATGGGGCTAGCAAGTGGCTAAATGGTAAGCTGAAAAGCAGCTTGGACCTCTCTTTTAAACTCGAGACTTGTATGACCAGCTGATTATTTGACACGTCCCCTTAAATGTCCAATGGGCACCTCAAACTTAACATGTCCAGGACCAAGTTCCTGCTATCCACTCCCTGACCCCTAACCTGTTCAGTTAATTGCCACTGCATCTTTCAACTGCTCAGGCCAAAAATCTTGAGCTATCCTTAACTTCTCTTTCTCATACACCCTAGCTTCAATCCATCAACACACTTAGTGAGGTCTACCTTCAAAATATCTCCAGCATTGACCCCTTCCAACTCTCTCCGCTGTTCATGTTCTGGCCTAAGCCACCAACAGCCTCCTCACTGCTCTTCAGGTTTCTGCCTTTGCTTCCCCTAATCTCTCAACAGATTCAGATATGTCACCCTTCTGCCTGAGCACTGCATTGGGTAAATGGATGAGTAAAAGTCCAAGTGTTTACCCTGAGCTACAAGGCGTTATCTGAACTGGCTTTTTTTGAGATGGAGTCTCACTCTGCCACCCAAGTTGGGGTGCAGTGGTGCAATCACAGCTCACTGCAGTCTAGACTGGCTGGGCTCAAGCCATTCTCCCACCTCAGCCTCCTGGGACAACAGGTGCATGCCACCATGCTAATTTTTAAAATGTATTTGTACAAACAAGGCTGCACTATGTTGCCTAGGGTGGTCTTGAGCCCCTGGGCTCAAGTGAACCTCCCACCTTGGGCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCAC)$ MTPACPLLLSVILSLRLATAFDPAPSACSALASGVLYGAFSLQDLFPTIASGCSWTLENPDPTKYSLYLRFNRQEQVCAHFAPRLLPLDHYLVNFTCLRPSPEEAVAQAESEVGRPEEEEAEAAAGLELCSGSGPFTFLHFDKNFVQLCLSAEPSEAPRLLAPAALAFRFVEVLLINNNNSSQFTCGVLCRWSEECGRAAGRACGFAQPGCSCPGEAGAGSTTTTSPGPPAAHTLSNALVPGGPAPPAEADLHSGSSNDLFTTEMRY|dgvslcspdwnama* 11BR051 ENSG00000141979.4 ENSG00000132002.8 -/- -/- chr19:16627872 chr19:14527810 CDS/splice-site 5'UTR/splice-site deletion 1 7 0 24 29 high out-of-frame . |DnaJ_C_terminal_domain(100%),DnaJ_domain(100%) . . ENSG00000141979.4 ENSG00000132002.8 ENST00000409035.1 ENST00000396969.8 upstream downstream . ^(ACTGGAGTTTGGTTCTCGAGGCGGCGGCAGCGAGCGGCGGCGGCTCCGGCGGCTCCTCCTCCTCCTTTGGTGGCGGCGGCGGCCCGGGACCGAGACCCGGCCCCGGCTCCCCTCTCCGCCACCCCGCGCGCCCCCAACCCCCCGGCGCCGCGGGGAACATGCGGCTCCGGCTCCCGGAGGCCGGCGAGTGAGTGAC)CCCCGTCCCCCGCCTCAGCCCGCCCGCCCGCTGGCCCGGCCGCAACCCCCCGCCTCGCCCAGGCAATGACAGCGGCTCCGGCGTCTCCGCAGCAGATCAGGGACCGGCTGCTGCAGGCCATCGACCCCCAGAGCAAC|ATCCTGCCCCTGAGCTTTCATGAGCTGTTGAACCATCTGGAATTCACAGGCCTGTCATGAGAGACACGATGAGAAGTCCTTAAAG(___GCCTAAAGGGGAGTGGCCCCAGTGGCGGTAGCGGCGGTGGTGCCAATGGTACCTCTTTCAGCTACACATTCCATGGAGACCCTCATGCCATGTTTGCTGAGTTCTTCGGTGGCAGAAATCCCTTTGACACCTTTTTTGGGCAGCGGAACGGGGAGGAAGGCATGGACATTGATGACCCATTCTCTGGCTTCCCTATGGGCATGGGTGGCTTCACCAACGTGAACTTTGGCCGCTCCCGCTCTGCCCAAGAGCCCGCCCGAAAGAAGCAAGATCCCCCAGTCACCCACGACCTTCGAGTCTCCCTTGAAGAGATCTACAGCGGCTGTACCAAGAAGATGAAAATCTCCCACAAGCGGCTAAACCCCGACGGAAAGAGCATTCGAAACGAAGACAAAATATTGACCATCGAAGTGAAGAAGGGGTGGAAAGAAGGAACCAAAATCACTTTCCCCAAGGAAGGAGACCAGACCTCCAACAACATTCCAGCTGATATCGTCTTTGTTTTAAAGGACAAGCCCCACAATATCTTTAAGAGAGATGGCTCTGATGTCATTTATCCTGCCAGGATCAGCCTCCGGGAG___GCTCTGTGTGGCTGCACAGTGAACGTCCCCACTCTGGACGGCAGGACGATACCCGTCGTATTCAAAGATGTTATCAGGCCTGGCATGCGGCGAAAAGTTCCTGGAGAAGGCCTCCCCCTCCCCAAAACACCCGAGAAACGTGGGGACCTCATTATTGAGTTTGAAGTGATCTTCCCCGAAAGGATTCCCCAGACATCAAGAACCGTACTTGAGCAGGTTCTTCCAATATAGCTATCTGAGCTCCCCAAGGACTGACCAGGGACCTTTCCAGAGCTCAAGGATTTCTGGACCTTTCTACCAGTTGTGGACCATGAGAGGGTGGGAGGGCCCAGGGAGGGCTTTCGTACTGCTGAATGTTTTCCAGAGCATATATTACAATCTTTCAAAGTCGCACACTAGACTTCAGTGGTTTTTCGAGCTATAGGGCATCAGGTGGTGGGAACAGCAGGAAAAGGCATTCCAGTCTGCCCCACTGGGTCTGGCAGCCCTCCCGGGATGGGCCCACATCCACCTCCAGTCCCT)$ MTAAPASPQQIRDRLLQAIDPQSN|ilplsfhellnhleftgls* 11BR051 ENSG00000105085.11 ENSG00000132002.8 -/- -/- chr19:16627872 chr19:14527810 CDS/splice-site 5'UTR/splice-site deletion 1 7 0 24 29 high out-of-frame . |DnaJ_C_terminal_domain(100%),DnaJ_domain(100%) . . ENSG00000105085.11 ENSG00000132002.8 ENST00000263390.8 ENST00000396969.8 upstream downstream . ^(ACTGGAGTTTGGTTCTCGAGGCGGCGGCAGCGAGCGGCGGCGGCTCCGGCGGCTCCTCCTCCTCCTTTGGTGGCGGCGGCGGCCCGGGACCGAGACCCGGCCCCGGCTCCCCTCTCCGCCACCCCGCGCGCCCCCAACCCCCCGGCGCCGCGGGGAACATGCGGCTCCGGCTCCCGGAGGCCGGCGAGTGAGTGAC)CCCCGTCCCCCGCCTCAGCCCGCCCGCCCGCTGGCCCGGCCGCAACCCCCCGCCTCGCCCAGGCAATGACAGCGGCTCCGGCGTCTCCGCAGCAGATCAGGGACCGGCTGCTGCAGGCCATCGACCCCCAGAGCAAC|ATCCTGCCCCTGAGCTTTCATGAGCTGTTGAACCATCTGGAATTCACAGGCCTGTCATGAGAGACACGATGAGAAGTCCTTAAAG(___GCCTAAAGGGGAGTGGCCCCAGTGGCGGTAGCGGCGGTGGTGCCAATGGTACCTCTTTCAGCTACACATTCCATGGAGACCCTCATGCCATGTTTGCTGAGTTCTTCGGTGGCAGAAATCCCTTTGACACCTTTTTTGGGCAGCGGAACGGGGAGGAAGGCATGGACATTGATGACCCATTCTCTGGCTTCCCTATGGGCATGGGTGGCTTCACCAACGTGAACTTTGGCCGCTCCCGCTCTGCCCAAGAGCCCGCCCGAAAGAAGCAAGATCCCCCAGTCACCCACGACCTTCGAGTCTCCCTTGAAGAGATCTACAGCGGCTGTACCAAGAAGATGAAAATCTCCCACAAGCGGCTAAACCCCGACGGAAAGAGCATTCGAAACGAAGACAAAATATTGACCATCGAAGTGAAGAAGGGGTGGAAAGAAGGAACCAAAATCACTTTCCCCAAGGAAGGAGACCAGACCTCCAACAACATTCCAGCTGATATCGTCTTTGTTTTAAAGGACAAGCCCCACAATATCTTTAAGAGAGATGGCTCTGATGTCATTTATCCTGCCAGGATCAGCCTCCGGGAG___GCTCTGTGTGGCTGCACAGTGAACGTCCCCACTCTGGACGGCAGGACGATACCCGTCGTATTCAAAGATGTTATCAGGCCTGGCATGCGGCGAAAAGTTCCTGGAGAAGGCCTCCCCCTCCCCAAAACACCCGAGAAACGTGGGGACCTCATTATTGAGTTTGAAGTGATCTTCCCCGAAAGGATTCCCCAGACATCAAGAACCGTACTTGAGCAGGTTCTTCCAATATAGCTATCTGAGCTCCCCAAGGACTGACCAGGGACCTTTCCAGAGCTCAAGGATTTCTGGACCTTTCTACCAGTTGTGGACCATGAGAGGGTGGGAGGGCCCAGGGAGGGCTTTCGTACTGCTGAATGTTTTCCAGAGCATATATTACAATCTTTCAAAGTCGCACACTAGACTTCAGTGGTTTTTCGAGCTATAGGGCATCAGGTGGTGGGAACAGCAGGAAAAGGCATTCCAGTCTGCCCCACTGGGTCTGGCAGCCCTCCCGGGATGGGCCCACATCCACCTCCAGTCCCT)$ MTAAPASPQQIRDRLLQAIDPQSN|ilplsfhellnhleftgls* 11BR051 ENSG00000101413.12 ENSG00000212717.3 +/+ +/+ chr20:38066256 chr20:31360773 CDS/splice-site exon duplication 0 7 1 91 21 high out-of-frame . Cell-cycle_alteration_and_expression-elevated_protein_in_tumour(100%),RNA_polymerase_II-binding_domain.(100%)| . . ENSG00000101413.12 ENSG00000212717.3 ENST00000373433.9 ENST00000602356.1 downstream upstream duplicates(1),mismatches(2) ^(GTCGGGTGGCCATCTTGTGGCGGCGGCGCGGGCGGCTGTTACTGCGGAGACCCATCCCCTCCCCCTTCTCGCACCCCTGGCAGTCTGTCAGTCGGTAAAAAGTCCCGCAGCCTGTCAGGTGAGGCCCCGGCCTCGTGCCGTCGCTCTTCCCGCCGCACTGGGCGGCCCAGGCCGCTCCCTGCCGGGCCTCACTGCCGCCACCATGTCCTCCTTCTCTGAGTCGGCGCTGGAGAAGAAGCTCTCGGAGCTGAGCAACTCTCAGCAGAGCGTGCAGACCCTGTCCCTTTGGCTCATCCACCACCGCAAGCACGCGGGACCCATCGTCTCCGTGTGGCACCGCGAGCTCCGCAAAG___CCAAATCAAATAGAAAGCTTACTTTTCTGTATTTAGCGAATGATGTCATCCAAAACAGTAAAAGGAAAGGACCTGAATTCACTAGAGAATTTGAATCTGTCCTTGTGGATGCTTTTTCTCATGTTGCCAG___AGAGGCAGATGAAGGCTGTAAAAAACCTTTAGAAAGATTGCTGAACATCTGGCAAGAACGAAGTGTGTATGGCGGCGAGTTCATACAGCAGCTGAAGCTGTCTATGGAGGACTCCAAGAGCCCTCCCCCCAAAG___CAACAGAAGAGAAGAAATCTCTGAAACGAACTTTTCAGCAAATTCAGGAGGAGGAGGATGACGACTACCCTGGCAGCTACTCTCCTCAGGATCCTTCTGCAGGACCCCTCTTG___ACTGAGGAACTAATCAAAGCTTTGCAGGATCT)GGAAAATGCCGCATCAGGGGAgGCTACTGTCCGACAGAAAATTGCTTCTCTGCCCCAGGAAGTGCAAGATGTTTgTCTATTGGAAAAAATAACAG___ACAAAGAGGCAGCTGAACGTCTTTCAAAAACAGTAGATGAAGCATGTCTGTTACTAGCAGAATATAACGGGCGCCTGGCAGCAGAACTGGAGGACCGTCGCCAGCTGGCTCGGATGTTGGTGGAGTATACCCAGAATCAGAAAGATGTTTTGTCGGAGAAGGAGAAAAAACTAGAG|TCTGCAGGAGCCAAAAATCTTGCTGGATCATAAAAGGACACTGCAGGAAAAACTGCAAACCTGGTGAACAGGTTAAAAAGCCATGTAAAAATGGTGACTATTGCTGCATTCCAAGCAACACAGATTCTTAACCACAGAGACCATCCCCAATCACCTAC$ MSSFSESALEKKLSELSNSQQSVQTLSLWLIHHRKHAGPIVSVWHRELRKAKSNRKLTFLYLANDVIQNSKRKGPEFTREFESVLVDAFSHVAREADEGCKKPLERLLNIWQERSVYGGEFIQQLKLSMEDSKSPPPKATEEKKSLKRTFQQIQEEEDDDYPGSYSPQDPSAGPLLTEELIKALQDLENAASGeATVRQKIASLPQEVQDVcLLEKITDKEAAERLSKTVDEACLLLAEYNGRLAAELEDRRQLARMLVEYTQNQKDVLSEKEKKLE|sagaknlags* 11BR051 ENSG00000189057.11 ENSG00000280047.1(57670),ENSG00000187678.9(84370) +/+ ./- chr11:59109706 chr5:142226057 CDS/splice-site intergenic translocation 3 4 0 14 12 high out-of-frame . . . . ENSG00000189057.11 . ENST00000343597.4 . downstream downstream . ^(AAATCCAGAGCGG)CGGGCACTGACGGGCACTTGCACCGTGTGGACAGACTCTCCGGTTCT___GGGGAAATCCAGTCCCTGTTACTCCATTTTGGCCAGAAATTCAAG___ACATTTCAGGTGGCAGAATAAATTCAATCCTTGTTTCTCCATCTTATCGAGTAGTAGAAGTTAGTTACATTCTCTTTGAACTCATCATGAATTCCATGAAGACTGAAGAAAACAAGTCATTTAGCGCTATGGAAGATGACCAGAGGACTAGACCTGAAGTTTCAAAG|ACAATGCACCCCCTTATTGCCTGCACCGGGGGGCCGCTCCTGCCACCCTGCTCTTTGTACACTGCTGTGACTAAGTCAGTGAGGACCAAACCGGAAAGTTTTTGGAAAATGCTTTTGGAAGGGTTTTGGAAAATGCTTTTTAAAGTGCTTGTTTCCTTCTGCCTTCCTG MNSMKTEENKSFSAMEDDQRTRPEVSK|tmhpliactggpllppcslytavtksvrtkpesfwkmllegfwkmlfkvlvsfclp 11BR051 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 2 5 0 199 41 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTC)CTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG(___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 11BR051 ENSG00000008838.20 ENSG00000283183.2(32729),ENSG00000133256.12(7862) -/- ./+ chr17:40053298 chr4:617722 CDS/splice-site intergenic translocation 3 3 0 73 14 high out-of-frame . . . . ENSG00000008838.20 . ENST00000356271.7 . upstream upstream duplicates(1),mismatches(1) ^(ACAAGTGCCAAAATGGCGATGCCTACCACCTAGAACTGGATTGTGCG___CTGGCCGCCACCGCTGCCACCTGCTCAGAGTGAAAT)AATGAAGGTGGTCAACCTGAAGCAAGCCAgTTaGCAAGCCTGGAAGGAGCGCTGGtGTGACTACCAATGGGCAATCAACATGAAGAAATTCTTTCCTAAAGGAGCCACCTGGGATATTCTCAACCTGGCAG___ATGCGTTACTAGAGCAGGCCATGATTGGACCATCCCCCAATCCTCTCATCTTGTCCTACCTGAAGTATGCCATTAGTTCCCAG|GACAAGTCCCAGGTGGCCTTGGAATGAACAAGCCCCTCCCTTCTCACGCGTACTTCTCGAGAATACCTGAAGAATGTGCCAGGAATGCAACCACCTGGTCTAGGGAAGGACCGGCCGGACAGCCCTGGCTCTGCTCCTGTGCCTCCTAGGGCAGGATGTCCCACACACTGTAGCCCTATGAGTCACCCCTGGC MKVVNLKQAs*QAWKERWcDYQWAINMKKFFPKGATWDILNLADALLEQAMIGPSPNPLILSYLKYAISSQ|dksqvale* 11BR051 ENSG00000076984.17 ENSG00000185236.12(2656),ENSG00000099785.10(6180) +/+ ./+ chr19:7912194 chr19:8407090 CDS/splice-site intergenic deletion 1 4 0 69 12 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000076984.17 . ENST00000397981.7 . downstream upstream . ^(CGGCGGCTCGACGGGGTCATCCGGGCGCAGGCGCAGTGCGGTGTTTGTCTGCCGGACTGACGGGCGGCCGGGCGGTGCGCGGCGGCGGTGGCGGCGGGGAAGATGGCGGCGTCCTCCCTGGAACAGAAGCTGTCCCGCCTGGAAGCAAAGCTGAAGCAGGAGAACCGGGAGGCCCGGCGGAGGATCGACCTCAACCTGGATATCAGCCCCCAGCGGCCCAGGCCCA___CCCTGCAGCTCCCGCTGGCCAACGATGGGGGCAGCCGCTCGCCATCCTCAGAGAGCTCCCCGCAGCACCCCACGCCCCCCGCCCGGCCCCGCCACATGCTGGGGCTCCCGTCAACCCTGTTCACACCCCGCAGCATGGAGAG___CATTGAGATTGACCAGAAGCTGCAGGAGATCATGAAGCAGACGGGCTACCTGACCATCGGGGGCCAG___CGCTACCAGGCAGAAATCAACGACCTGGAGAACTTGGGCGAGATGGGCAGCGGCACCTGCGGCCAGGTGTGGAAGATGCGCTTCCGGAAGACCGGCCACGTCATTGCCGTTAAG___CAAATGCGGCGCTCCGGGAACAAGGAGGAGAACAAGCGCATCCTCATGGACCTGGATGTGGTGCTGAAGAGCCACGACTGCCCCTACATCGTGCAGTGCTTTGGGACGTTCATCACCAAC___ACGGACGTCTTCATCGCCATGGAGCTCATGGGCACCTGCGCTGAGAAGCTCAAGAAGCGGATGCAGGGCCCCATCCCCGAGCGCATTCTGGGCAAGATGACAGTGGCG___ATTGTGAAGGCGCTGTACTACCTGAAGGAGAAGCACGGTGTCATCCACCGCGACGTCAAGCCCTCCAACATCCTGCTGGACGAGCGGGGCCAGATCAAGCTCTGCGACTTCGGCATCAGCGGCCGCCTGGTGGACTCCAAAGCCAAGACGCGGAGCGCCGGCTGTGCCGCCTACATGGCA___CCCGAGCGCATTGACCCCCCAGACCCCACCAAGCCGGACTATGACATCCGGGCCGACGTATGGAGCCTGGGCATCTCGTTG___CCCTGCCCGTCTCCCTCCCAGGTGGAGCTGGCAACAGGACAGTTTCCCTACAAGAACTGCAAGACGGACTTTGAGGTCCT)CACCAAAGTCCTACAGGAAGAGCCCCCGCTTCTGCCCGGACACATGGGCTTCTCGGGGGACTTCCAGTCCTTCGTCAAAGACTG___CCTTACTAAAGATCACAGGAAGAGACCAAAGTATAATAAGCTACTT|AGATGGGGTTTCACCGTGTTgGCCAGGATGGTTTCTATCTCCTGACTTTGTGATCCGCCCACCTTGGGCTCCCgA?GTCCTGGGATTACAGGCGTGAGCCACCGCGCCAGGGCAACAGGAGGATTTCAAGTAGAAACTGCCAATGAAAAAAGAGAG MAASSLEQKLSRLEAKLKQENREARRRIDLNLDISPQRPRPTLQLPLANDGGSRSPSSESSPQHPTPPARPRHMLGLPSTLFTPRSMESIEIDQKLQEIMKQTGYLTIGGQRYQAEINDLENLGEMGSGTCGQVWKMRFRKTGHVIAVKQMRRSGNKEENKRILMDLDVVLKSHDCPYIVQCFGTFITNTDVFIAMELMGTCAEKLKKRMQGPIPERILGKMTVAIVKALYYLKEKHGVIHRDVKPSNILLDERGQIKLCDFGISGRLVDSKAKTRSAGCAAYMAPERIDPPDPTKPDYDIRADVWSLGISLPCPSPSQVELATGQFPYKNCKTDFEVLTKVLQEEPPLLPGHMGFSGDFQSFVKDCLTKDHRKRPKYNKLL|rwgftvlarmvsis* 11BR051 ENSG00000278621.1 ENSG00000259345.7 -/- -/- chr15:39588397 chr15:39071608 exon exon/splice-site deletion 3 1 0 38 41 high . . . . . ENSG00000278621.1 ENSG00000259345.7 ENST00000616754.1 ENST00000561058.5 upstream downstream . ^(CAGTGTAAGATATTATAGGGTATAGGGAACCGATAACTTGTTGGGATTATGTTGTCCACCTGCATCTTAGAGCAATCAAATCGCTCAGGACTAACCAAGCTGGAATCTCCTCGAATGCTGACTGCAGCATTCAGTAAAAGAGCAAAGCTCCTGGGTCGTTTCATCCTGGGCTGCGTGGCTCACCAATTGGACAGTCCTGCTTGTTGCAGATCTGGTTTTCTGTTACATCACCAACGCAGTCCTTGCCTCCAAACTGGGGTGTGGGGTTGTTGCAGAGACGACTACGTTTCTGTACCCCTCCTCCACAGGTGACAGAACAGATGTCCCATGGTGACCAAGGACCCCAGCCTCCA)TTGACTGTAAGAAGATGAACCACAGGCAACAATTAAGATCAACTTTCAAATCCCTCCCTTGTCATAGACTCTCCTAAGCCCGTTCAAGAAACCTCTGCTTCTCTGACACATGGAAAGAATGCTGGGGAAGAGG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCAC(TCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 11BR051 ENSG00000185236.12 ENSG00000099797.15 +/+ +/+ chr19:8402149 chr19:14558560 CDS intron deletion 11 17 3 256 44 medium out-of-frame . Ras_family(100%)|3-oxo-5-alpha-steroid_4-dehydrogenase_(100%) . . ENSG00000185236.12 ENSG00000099797.15 ENST00000328024.11 . downstream upstream duplicates(2),mismatches(3) ^(GTCGGGTGTTTGTGGTGGGGCTGCGGAGTCGCCGATCCCGCCGGAAGCGCCAGGACAATGGGGACCCGGGACGACGAGTACGACTACCTATTCAAAG___TGGTGCTCATCGGGGACTCAGGCGTGGGCAAGAGCAACCTGCTGTCGCGCTTCACCCGCAACGAGTTCAACCTGGAGAGCAAGAGCACCATCGGCGTGGAGTTCGCCACCCGCAGCATCCAGGTGGACGGCAAGACCATCAAGGCGCAGATCTGGGACACCGCTGGCCAGGAGCGCTACCGCGCCATCACCTCCGC___)GTACTACCGTGGTGCAGTGGGCGCCCTGCTGGTGTACGACATCGCCAAGCACCTGACCTATGAG|CAGAGCCACAGGCCGGCAGAGCCACCAGCCTGTGCCCCAGGCCAGAGTGCCTGCCTGTCTGCCCGTTCCTGCCCTCTCCCTGCCCGTCGTGCCTGAGGCTATGTGGTCTCACCCCTTGCCCGTGGCCAGTGCTGGGACCTCGCTGACACCAGTAGCCCCCCTCCCACAGGTATCCCTTCATCCACCCAGAGCATCTCAGCCCCTCCCAGCCCCTCCGAGTGGCTCCGTGGGCTTCCTCAGAAGGTCCTGTCTGTCCTCCCTGCCgCACC MGTRDDEYDYLFKVVLIGDSGVGKSNLLSRFTRNEFNLESKSTIGVEFATRSIQVDGKTIKAQIWDTAGQERYRAITSAYYRGAVGALLVYDIAKHLTYE|qshrpaeppacapgqsaclsarscplparra* 11BR051 ENSG00000105514.8 ENSG00000185236.12 -/- +/+ chr19:11324069 chr19:8401895 3'UTR intron inversion 3 11 1 29 40 medium stop-codon . Ras_family(100%)|Ras_family(100%) . . ENSG00000105514.8 ENSG00000185236.12 ENST00000222120.8 ENST00000328024.11 upstream upstream . ^(CTTCTGGGCGGAGCCCGCGCGGGATCCGGGTGGCTGCAGGCTGCTGGCTTCTGCGGCTGCGGGGTCGGGGTCGCGGCCAGGGCCAAGCCGCAGCGAGTTCACAGGCGGAACCCCTGCAGGCGGCGCCCCCTACGCGAGGTCACCCCTGGGAAGGAGCGCAGCCCACCCGGCCCCTCCGCATCCGAGCAG___GACGCCCGTCTCCTCTCCCTGAGGATTTCAGGTCTCCCTGTCCCAGGAGGCTTGTGCCAAGATGGCATCAGCTGGAGACACCCAGGCAGGCCCACGGGATGCAGCAGATCAGAACTTCGACTATATGTTCAAACTGCTACTGATAGGCAACAGCAGTGTGGGCAAGACTTCCTTCCTGTTCCGATACGCGGACGACTCCTTCACTCCCGCCTTCGTCAGTACTGTGGGCATCGATTTCAAGGTCAAGACCGTCTACCGCCATGACAAGAGGATCAAGCTGCAGATCTGG___GACACAGCGGGCCAGGAGCGCTACCGCACCATCACCACGGCCTACTACCGGGGAGCCATGGGCTTCCTGCTCATGTATGACATCGCCAATCAGGAATCCTTTGCCGCTGTGCAGGACTG___GGCCACGCAAATCAAGACCTACTCCTGGGACAACGCCCAGGTCATCCTGGTGGGGAACAAGTGTGACCTGGAGGACGAACGTGTTGTGCCTGCTGAGGATGGCCGGAGGCTCGCCGACGACCTTG___GTTTCGAGTTCTTTGAAGCCAGTGCCAAGGAGAACATCAATGTGAAGCAGGTCTTCGAGCGCCTGGTGGATGTCATCTGCGAGAAGATGAACGAGTCCCTGGAACCCAGCTCCAGCTCAGGCAGCAACGGGAAAGGCCCGGCCGTGGGGGATGCTCCAGCCCCCCAGCCCAGCAGCTGCAGCTGCTAGAGATGGCCCCCAACCCCCCACCCACCCCTCTCCTGCCTCGGCAGGGACTGTGATCGAGGCGTGAGCCACAGTGGTTATCTCCAAGCTCAGGGCAATCCCTTCCCTCCTGTCAACTGCTCCCCGACTCCTGCATGGCTCATTCCTTCACAATGTCGCCGTGGCTGCCAGGTTCCTCAGGCAGCCCCGGTGGGAGGCTGCGGACCATGGGGACTCAGCTCTGCATGGCAGGCAGAGGCCCAGGGACACTGACGTGCATGAGCTTGCTGCTTTCCAGGGTGTGTTGAGGGTGGCCATGGGTGACACGTCCCACTCTTTCTGATGGAGGGGCATCCGTGGTGCCTTCTAGCTTAGAACCATTTTCCAGGTCTCTTCTGGGTTGGGCAGGACTGATATTCCCAAGCTGGTGGAAGATGGTTCATCTTCCTCGCACAGTGTGGGTTCTTGGAGTTCATCCAGGGAAGGCGGCGCCTCTTTCTCAGGTCCTGCAGGCTGGTCTCTGAGCCTGCCCCCACGAACTTTCTGGATTCCAAGGTGGGATGGTGATCCCTTTGACCCCTGCAGACCCTCTACTTGCGAAAAGCAGCATTGAAGCAGCCTTTTCCCATTGTAGAAGGGACAGGGAGTCAGATCCCCTCAACCCCCCGGCTTCAGGGACCCCAGAAGTGCCTTCCAAGCTTCCCCCAAGATCCACATCACCCACGACCCTGCCACTGTTTTTGCTGTGTTCACCACATCTCTGATCCTGAAGTGAATTCTGGAACTATGGACCACATTAGACTGGGCAGAGATTCGCCCAACCCCTAGCACTCCGGCTCTGGGCTTTCGGCCAGAAGTTAATTAACCTCAGAGCCAGGAGCCTGGGGCTGGGGCCTCCCTCCCAGGCCCTGTTTAGCTGTTTAGCTGGTTGTGTTTTAAGCAAGTTCTTGCCCAATCATGCATCCTGCTAGAAAAGGAAATGAAGCAACGTTCCCAGCCACCGCAGGCAGTTGTCGGCGACTTTCTGATGTAAGCACCTGGGCTCCGACTTGAGGGGGGCCCTTCAAGACCCAATGTCCATTTCCCAATCCTTGTCATCGGCAGGGCCCAGGGATGTGACAATTTTTGCTAATGGAGGAGTCACTTCTTTTTTTTTTTTTTTCTTTTTGAGATGGTCTGGCTCT)GTCACCCAGGCTGGAGTGCAGTGGTGCAATCATAGCTCACCACAGCCTCAAACTAGGGGTCACTTCTAAGGGATGCTGGGGGTTGGGCGGAAGGGGTGAGGAGGTAGGATTGAGTAACTTGCTGTCACTGCTTGTACTTTGTAGACAGCCTGAGAGTGGCAGGACCTTA|CATTTCAGAGCTcaATCCAGGGAGCAGCGCTGGGGCCTCCAGACACACACCCTTCCCTTGAGGCCACAATGACTGCCCCTTGGCTCGGCCCTGGACGACCCACCCTGGGCGTGATGTGTGCTGTTATCCCGTGAGGCTGCCGCTGCCCATGGTTGTCCTCCAGAGAGGCTCATGGGCCCCTGACCCTGCAGGTACTACCGTGGTGCAGTGGGCGCCCTGCTGGTGTACGACATCGCCAAGCACCTGACCTATGAG(AACGTGGAGCGCTGGCTGAAGGAGCTGCGGGACCACGCAGACAGCAACATCGTCATCATGCTGGTGGGCAACAAGAGTGACCTGCGCCACCTGCGGGCTGTGCCCACTGACGAGGCCCGCGCCTTCGCAG___AAAAGAACAACTTGTCCTTCATCGAGACCTCAGCCTTGGATTCCACTAACGTAGAGGAAGCATTCAAGAACATCCTCACAG___AGATCTACCGCATCGTGTCACAGAAACAGATCGCAGACCGCGCTGCCCACGACGAGTCCCCGGGGAACAACGTGGTGGACATCAGCGTGCCGCCCACCACGGACGGACAGAAGCCCAACAAGCTGCAGTGCTGCCAGAACCTGTGACCCCTGCGCCTCCACCCAGCGTGCGTGCACGTCCTCCGCCCGCCCCCGCCACGGTATCCTCTGGCCCCTCCCTGCTGTCCCTCTGTGGCCGGCTCGTTCCAGCCCTCCCAGTGAGCTCTGCACGGCCGGGCCGGGGCCCAGGAAGGACAGGAGCCAGTGCTACCCCGTCCTGCCCGGGGAAAAGCTAGAAGCCCCGGTTTGCTGCACCCATGAAACTCGGGTCCCCACAGCGTCTTGGCGGGGTGGGGAGGGCGGCAGGATGGACGGGGCTGGCCAGAGGCGAGGAGGACGGGCGGACGGCGCCGCCTTCTCCCCTTTTCCTTGGCCGACTCTAGGGAGCGATTGCCTCCCTCCCTCCGTGACCGGGTGGCCCAGCCAGCCCGTCGTCCCCACCCAGAACCGTGCTCTGGGCCAAAGCCCGAAGAACCAGGCAGCGGGGGCCGGGGCAGGCGGACCCCCCGGGCTCTCAGCGCCCACCCGCTCCTCCGCACACAGCAGCTCGCACAGGCCTCCCACCTCTGCCTGTTGATTGATGCAGGGAGAAGCCCGTCCCCCCCTCTCCCCTCTCCCCTCCCCTCTCCTGCACGCAACGCGCCCTCTCGGCCCTCCCTGTCCCCCTCCTCTGTCTCGTCTCCCCATCTGGTCTGGAACCTGTTTGCAAGTGAAGCAATATCTCCGTGTTTTGTATATACAACCGCTCTTGTAGCCTTTGGTTTTTGTTAATGTAGAGAAACACAGATTCTTTATACACTTTGTAAGATTTACGCCAAACCCCAGCTCTCGATCTCTTCTTCTCCCTGTGGCCCCTGCGCTGTTGCCCCGTCCCCGTCACCCCGCCCGTTACTGAAATGTATAATCTGACTTCCTGTACAGAAA)$ . 11BR051 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 8 6 0 23 430 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream duplicates(1) ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCT)CCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTG(ACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 11BR051 ENSG00000139197.10 ENSG00000187475.6(2985),ENSG00000180596.7(3753) +/+ ./+ chr12:7199113 chr6:26111120 CDS/splice-site intergenic translocation 12 0 0 84 19 medium out-of-frame . . . . ENSG00000139197.10 . ENST00000455147.6 . downstream upstream . ^(GACGCTACCCCGCTAGGGGTTATTTGGAAGCGGGGCAGGCCTAGGAGGCTGAAGAAGGCTTCGGACTGGACTCCCCAGCCCCTGGTGTTAGGGCTTTTCTCTTTCTTGGGCTTGGGAACATTAGCCAGCCCCATTTTAGAGGGGAAAACTGAGGCTCAGAAAGGGCACTGAATCCCCTTAGGTCACAATGCGCCCAAGGGAAGAGGCAGGATCGACTGAGCCTAGGATCTCGCGTCTTCGGCTTTCCCCCAGAGCCTGGGAAGCCCTTCTTAGCTCCACTCTTCTTTGAGCTTTCCGTCAAACAAATCCTAGGGCCCGTGGCCTTTTCGAGCGCTCCTAAAGGCGACTCTCCAAGACCCGCTCTCTAAG___TGTCGCCGTCCAGCCTGGTTGTTGAAGCGTCCCCGTGGTCCCCCGGGGTCCAGGCCCCTTTGTGGAGGCAGCTGCTGGCCCCCAGCCCATGGGACCGTAGTCGCGGAGGCCTCTGCAGAGGCGCAGGCTGGAAGCGGTGGCCTTTGAGGGGGGCGGCAGGAGAGAGTACCGACCTCCCTCGAACTCCTGGCAGAG___AGAGCTGGCGGTCACCATGGCAATGCGGGAGCTGGTGGAGGCCGAATGCGGGGGTGCCAACCCGCTCATGAAGCTCGCCGGGCACTTCACCCAGGACAAGGCCCTTCGGCAGGAGGGATTGAGGCCTGGCCCCTGGCCCCCCGGAGCCCCGGCCTCTGAGGCA___GCCTCCAAGCCTTTGGGAGTAGCTTCTGAAGATGAG___TTGGTGGCTGAATTCCTGCAGGACCAGAATGCACCCCTTGTGTCCCGTGCCCCTCAGACCTTCAAGATGGATGACCTCCTGGCTGAGATGCAGCAGATTGAGCAGTCAAACTTCCGCCAGGCTCCCCAGAGAG___CC)CCTGGTGTGGCAGACTTGGCCTTGTCTGAGAACTGGGCCCAGGAGTTTCTTGCAGCTGGAGATGCTGTGGATGTAACTCAGGATTATAATGAGACTGACTGGTCCCAAGAATTCATCTCTGAAGTTACAG___ACCCCTTGTCTGTGTCCCCTGCCCGCTGGGCTGAGGAATATTTGGAGCAATCAGAGGAGAAGCTGTGGCTGGGAGAACCTGAGGGAACAGCCACCGATCGCTG|GGTCTCGCTGTGTTGCCCAGGATGCTCTTGAACTCCCGGACTCAAGCGATCCTCCTTCTTCAGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGTCAG MAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAASKPLGVASEDELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQEFLAAGDAVDVTQDYNETDWSQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTATDRw|vslccpgcs* 11BR051 ENSG00000011478.12 ENSG00000104879.5(3696),ENSG00000242675.1(6127) +/+ ./+ chr19:45696092 chr19:45326571 intron intergenic duplication 3 6 0 7 20 medium . . Peptidase_family_M28(100%)| . . ENSG00000011478.12 . . . downstream upstream duplicates(2),mismatches(1) CCTCAGAGCTTGCCATGGCTCCCCAGTGCCCTCAAGGTAAATGAGTATTTGTTGACTAAATAAATAATAGTAACTGTATCTGGCAGATGTAG___GCGTGAGCCACCGCGCCTGGTCATCACAGGGATCTTTTTACCTTCTAGATGTCAGATTCTCTTTCCTCTCCCCCAAACC|ta|GGACTCCTGTCCCAGTCTTTGCCATTCCCACCTAAACCCTACCTGCTGACCTCCCCTCCTCAGAGCTTGCCATGGCTCCCCAGTGCCCTCAAGGTAAATGAGTATTTGTTGACTAAATAAATAATAGTAACTGTATCTGGCAGATGTAGGCGAGAGTAACCACTACCCAGCTTAAATAGAAAGGAC . 11BR051 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 2 0 1 580 41 medium . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000561058.5 upstream downstream duplicates(1),mismappers(1) CTCTTGTCACACTCCTGAATGTGGCAGGTCCGTGTCTGGACCGAGGAGCCCTCACATCGGTTGTTGAGGCTATCGCAGGAGCGGCCGCGCTGCTGAATTCCATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG(___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 11BR051 ENSG00000141979.4 ENSG00000099797.15 -/- +/- chr19:16627872 chr19:14550512 CDS/splice-site intron deletion/5'-5' 0 3 0 24 6 medium out-of-frame . . . . ENSG00000141979.4 ENSG00000099797.15 ENST00000409035.1 . upstream downstream . ^(ACTGGAGTTTGGTTCTCGAGGCGGCGGCAGCGAGCGGCGGCGGCTCCGGCGGCTCCTCCTCCTCCTTTGGTGGCGGCGGCGGCCCGGGACCGAGACCCGGCCCCGGCTCCCCTCTCCGCCACCCCGCGCGCCCCCAACCCCCCGGCGCCGCGGGGAACATGCGGCTCCGGCTCCCGGAGGCCGGCGAGTGAGTGACCCCCGTCCCCCGCCTCAGCCCGCCCGCCCGCTGGCCCGGCCGCAACCCCCCGCCTCGCCCAGGCAATGACAGCGGCT)CCGGCGTCTCCGCAGCAGATCAGGGACCGGCTGCTGCAGGCCATCGACCCCCAGAGCAAC|GGCAGGAAGGCGCTGTCGGACCAGGAAGCTGGAAGGGGGCCAGAGGCTGAGCCCTGCAGATACAAACTGACTGGAGGAGCAGGAGGAGCTCATCCGGGCCAACCCCCGACTGCCCGAGTCCAGC MTAAPASPQQIRDRLLQAIDPQSN|grkalsdqeagrgpeaepcrykltggaggahpgqpptarvq 11BR051 ENSG00000105085.11 ENSG00000099797.15 -/- +/- chr19:16627872 chr19:14550512 CDS/splice-site intron deletion/5'-5' 0 3 0 24 6 medium out-of-frame . . . . ENSG00000105085.11 ENSG00000099797.15 ENST00000263390.8 . upstream downstream . ^(ACTGGAGTTTGGTTCTCGAGGCGGCGGCAGCGAGCGGCGGCGGCTCCGGCGGCTCCTCCTCCTCCTTTGGTGGCGGCGGCGGCCCGGGACCGAGACCCGGCCCCGGCTCCCCTCTCCGCCACCCCGCGCGCCCCCAACCCCCCGGCGCCGCGGGGAACATGCGGCTCCGGCTCCCGGAGGCCGGCGAGTGAGTGACCCCCGTCCCCCGCCTCAGCCCGCCCGCCCGCTGGCCCGGCCGCAACCCCCCGCCTCGCCCAGGCAATGACAGCGGCT)CCGGCGTCTCCGCAGCAGATCAGGGACCGGCTGCTGCAGGCCATCGACCCCCAGAGCAAC|GGCAGGAAGGCGCTGTCGGACCAGGAAGCTGGAAGGGGGCCAGAGGCTGAGCCCTGCAGATACAAACTGACTGGAGGAGCAGGAGGAGCTCATCCGGGCCAACCCCCGACTGCCCGAGTCCAGC MTAAPASPQQIRDRLLQAIDPQSN|grkalsdqeagrgpeaepcrykltggaggahpgqpptarvq 11BR051 ENSG00000167785.9 ENSG00000233866.1(205112),ENSG00000278188.1(20855) -/- ./- chr19:8821180 chr22:16120912 CDS/splice-site intergenic translocation 0 2 0 58 3 medium out-of-frame . KRAB_box(100%)| . . ENSG00000167785.9 . ENST00000601372.6 . upstream downstream . ^(GGTACCGTGGGAGGGGCCGCGCGTGGGGCAGCGGGGAGCGAGTCCCTCCGTCCCCGCGAGTCGGCGCTTTTGGCCCCGCGGGAGGGGCCGGGCTCG___ATGAGAAAAGCATCATTCAAGCTCAGATTCGTGTTGAAGCCTGCCACAAGGTCCACCTGTTGTTGTGGGTTTTTGGGTGACCAG___GGGTTACCCCCAGCAGTGTGTGAGAATGAAGAGTGTGGGCCACTGTGTCTCTGTTGACCTGCCAGATAGGAAATAGCGCCAGAGTTGCTGCAATCCACGTCTCCCTG___GAATTCAGGAGCAGCTTGGCTGGAAGGCTCTGGCTGGAAACTTGCAGAAGGCTGTCAGCTGGGTCTGCATCATCTGAAGGCTCAACGGGTACCGGGGGCCACTCCATGGCCTGCGAGTCAGAGCTGGCCGTCGGTGGGAGGCCTCAGTTCCTCTCCACATAGGCCTCTCCACAGGGCCACTTGAGCGTCTTCCCACCATGGCAACTGGTGTCCTCTAGAGCAACATCCAGGAGACCAAGGCGGAAGCAGCTGTAGTGCCTTCCAAGACCTGGTCCTGAAAGTCACCCCTGCACCCACCCCCGCTGTCTCCTCAGCCATATTCTGCTGGTCACACAG___AGCGCTGCGGGATAAAGGAGGAGCGTCCTGCTTCCCGGCTGCCCTGTTGCTGTCGGAGTCACAGGATGGCGGCTGTCATCCTGCCCTCGACTGCTG___CTCCGTCTTCCCTGTTCCCAGCCTCTCAGCAAAAAGGACACACACAGGGCGGAGAGCTGGTTAATGAGCTCCTGACAAGCTGGCTACGG___GGCTTGGTAACCTTCGAGGATGTGGCCGTGGAGTTCACCCAGGAGGAGTGGGCGTTGCTGGACCCTGCCCAAAGGACACT)GTACAGGGATGTGATGCTGGAGAACTGCAGGAACCTGGCCTCACTAG|ACGGAGTTTCGCTCTGTCGCCCAGGCTGAAGTGCAGTGGCACAATCTGGGATCACTGCAAGCTACACCTCCTGGGTTCACGCCATTCTCCTATCTCAGTATCCTGAGTAGCTGGGACTACAGGCCACCACGCCCGGCT MAAVILPSTAAPSSLFPASQQKGHTQGGELVNELLTSWLRGLVTFEDVAVEFTQEEWALLDPAQRTLYRDVMLENCRNLASL|dgvslcrpg* 11BR051 ENSG00000134061.5(18305),ENSG00000251206.1(52918) ENSG00000249364.6 ./+ +/+ chr5:67215104 chr5:67619791 intergenic exon/splice-site deletion 0 2 0 2 6 medium . . . . . . ENSG00000249364.6 . ENST00000668508.1 downstream upstream . CTTGGTCCGATTCTACCTCCGGAACAATGCTCAGCCCACAGCCCTCATTCCCTCCGTGATGAACAGTAACTGTGGACcTTTGACCTTCCTCTTGAGCTTGGTCTGAGTCTTGGCATTTACAACCACGGCTCTAG|GGGTAAAAGCTGACTTGGCAGAAGCTGTCTGATACTGTGGGTCATCCTGACCTTGAGACTGCGCAACGTGCCCTGGCAGATTCAGAGTGTGTCCTGCTAGAACCCATGTGCTGGACTCATTTCCA___AGTGTGCCTGCAGCATGCATTCATTACTGCATCTGATGGAAGCACAAAGGGAGAGACAAAGATGCAGAGAACAATG___GATATCTGCCAGTGAATGAGTCTGTTGAAATCACC(ACACCAAATTCAACATTAAGGGCCAACCCTGACCACAGCTGAGCCGTGTGAAGAGGCTGACAGCGGCGTGGCCACCACCCAGGATGGAGAGAAAGGCACTGTGAGGTGTTAATGGAAAAATCCAACTTCCTTTTCTTCCAAAGATGATGACTGAAACCAAAGTGGAGCTTTCCCT___TGTGAAGTGAAAGCAAAGTTTTAAAATTTTTTCTCCTCTGCAAGAAAATATATTTCAGAAAATCTCTATCTCAAAAATGAAGCAATTAAGAACTGTCTGGCTGTGAGGATCTGGCCTCAACTTGACTTAAAGCAACAACTTCAGTTACATATCAAGATGTGCGTGAGAATGAACCTGCTCTGCTCAGCCAACGTGCTGAGTGACTTGATGTTTGTAATAAATAAATAAATAAACAACAAACAGGTTGTCATGAAATATCCTTTGTAATTATAAACACAGGAAACTTTCTGAGATGCAAGTGGGTGTTAAATGGTTCAGCAAAGCCAAGCCAGAGCAGTTGGTGTGCTTTGAAATGAAGCAACATTGGAAAAATGAAATCTACTGAAAGATCACTACGTGTTTCAAAG___AACTGACTAGAACCAGAACTCTTCAGAAAAGAATGTGCTAAAGGTTTGTCCTTGAGAAGTTTCCAAGCCAAGACACTCCTAGGAGCACTTCCCATTGAGGCCGAAAGGCTCATCCACTTACAGCGATTCATGGGAAAAGAGGACAGCACCCTCATCTTTGGTCCAAGAACACAATCCTGAGTGACACAGGATTGCCCTGAAAGTCAACAGCATCCGTCTTACAAAAATCAACAACACTCGCTTTTCAAACTTCCAAAGAATTTACTGGTCTGGTTTGGCCTTTTGGTGCCACATTCCATTCCAGAACCCCAGCTAAAATGTTCTCAAGGGCTGACCAGAGATTCCTCCTCCTTTCTCTGGGCTGGTACAACTTGACCGCTGCTTGACATCAAGGTCAACTGGAGACTGGGAACAGTTATGTAACTGTGTTGTAAATTGAATTAGAGCTGTACATGAGCCCAGACCAAGTAACCAGTGCAGCTCCAGGCAAGAGCAGCAACATGTCCCCCAGAGACAGCATTGGAGGAACAGCTTACTGGGGAATGGAAAAAGGGTATCACAGGGTAAAAAAGAAACCGTCTCTTTCCAGTCCTTCTAAAGTCTGGGCAGTTGGCTGCCCCATCACATGTGGAATAAGAGGGGGGCATTAAGTGCAGAGGGAGCTGGTGTCAGTATGGCAGGCAAACACTGAGGAAAAATCAGCATACATAGTATACACAAAGAGAATGAGAAAAAAATATTTGTAACACCAGAACAGACACCACCCAGATGAAAGAAATAAGAAGGCTTACACGTGGAGAGGAAAAAAGCCTCTGGCAGTGGTCAGTGGACTGTAGAATGAGCAAGAAAGGCATGACCATCCTCCTACCAGTGACTGGTCATTCTGGAGAGGATACATGTGCACAGATCTGGAAAACCAGGGCTGAAAAGCCTTTTGACACCTTTGGTGACCTAGGACATGGTCCCCCAATGTAAGACATCATGCTAGATAGAGGGGAAAATAGTAAGTTTTCTTCAAAGGCAAATGAATACAACTTGAGATAACTTTTGAAAAGAAAAAAGGTACTGGGACCATGGCATGACTTTGATCTGTGCTAACATGACCGCCTGCAGAAGCAGATGAGGAGAGGCAGAATAATGTAAAGCTGAAAGCTTGGAGTCACCAAACCATAGATAGCTTCACCTCTTACCAAGTGCTTGATGTGTGGCTAGGTTCTTAAATCCCCTACAAGTTCCAGCTTCCTCATCTGTAAAAAACGAGCAAGTTAAGACTGGGTGAGTTAATAGATGTAAAAGTACTTAGTACAGTACTCTACAAATAGTAAGTGCCCAATAAATGTTAACTGTTATTATTATGTATTCTGTCCTTCACTATGTTAGGCCCTGGGATGTAGTGGTGACAGGCAAGGCTGCTGCTCTTGTGGTTCTTACATGAAACAAGGGAACAGGGAAATAAACAAAATAAATGCAGACTATGAAAAGTGCTAAAGAATAAATAAA)$ . 11BR051 ENSG00000125484.12 ENSG00000130707.18 +/+ +/+ chr9:132679803 chr9:130452224 CDS/splice-site 5'UTR/splice-site duplication 0 2 0 36 87 medium out-of-frame . Transcription_factor_IIIC_subunit_delta_N-term(100%)|Arginosuccinate_synthase(100%) . . ENSG00000125484.12 ENSG00000130707.18 ENST00000372146.5 ENST00000352480.10 downstream upstream . ^(CTTGGCTCGGCGGCGCTCGGGGCCTGAGGGGAGAAAACCGCCGCGGAGGGCGCTGGGGGTGGCGGCGGCGGTCCGGGAGGTGGTCGCGCGACTGCGTGGAGCGCCAGGGCGTCCGACCTCTGCACCTGAGAGAAGATGAACACGGCCGACCAGGCCCGGGTGGGGCCCGCGGACGACGGGCCTGCGCCGTCTGGGGAGGAGGAGGGAGAGGGGGGCGGCGAGGCGGGCGGGAAGGAGCCAGCAGCGGACGCGGCCCCGGGGCCCAGCGCTGCATTCCGCCTCATGGTGACTCGGCGGGAGCCGGCCGTGAAGCTGCAGTATGCGGTGAGCGGCCTGGAACCGCTGGCTTGGTCCGAGGACCACCGCGTGTCTGTGTCCACGGCCCGCAGCATCGCTGTGCTGGAGCTCATCTGCGACGTGCACAACCCGGGCCAGGACCTGGTTATCCACCGCACCTCGGTGCCCGCACCGCTCAACAGCTGTCTCCTCAAA___GTTGGCTCAAAAACAGAAGTTGCTGAGTGCAAGGAGAAATTCGCCGCCTCCAAGGACCCCACGGTCAGTCAGACTTTCATGTTGGATAGGGTGTTCAACCCTGAGGGGAAGGCTTTACCACCAATGAGAGGATTCAAGTACACCAGCTGGTCTCCCATGGGTTGCGATGCTAATGGCAGGTGCCTCTTGGCAGCACTGACCATGGACAATCGCCTGACCATCCAGGCAAATCTCAACAGACTGCAGTGGGTCCAGCTGGTTGACCTGACTGAGATCTATGGAGAACGTCTTTATGAGACCAGTTACAGGCTCTCTAAAAATGAGGCCCCGGAAGGAAATCTCGGGGATTTTGCTGAGTTTCAGAGGAGACACAGCATGCAGACCCCAGTCAGAATGGAGTGGTCGGGCATCTGTACCACCCAGCAGGTCAAGCATAACAACGAATGCCGGGACGTTGGCAGTGTGCTCCTGGCTGTCCTCTTTGAAAACGGTAATATCGCCGTGTGGCAGTTTCAGCTGCCGTTTGTAGGAAAAGAATCCATCTCTTCATGCAACACAATTGAGTCAGGAATCACCTCTCCCAGTGTATTGTTTTGGTGGGAATATGAGCACAATAATCGAAAAATGAGTGGCCTTATTGTGGGGAGTGCTTTTGGACCCATAAAAATTCTTCCTGTCAATCTCAAAGCAGTCAAAGGCTATTTCACTTTAAGGCAGCCTGTTATCTTGTGGAAAGAAATGGACCAGTTACCTGTGCACAGTATCAAATGTGTGCCACTTTATCATCCTTACCAGAAGTGTAGTTGCAGCTTAGTAGTGGCTGCAAGAGGCTCTTATGTATTTTGGTGTCTTCTTCTGATCTCCAAAGCAGGGCTGAATGTTCACAATTCCCATGTCACAGGCCTTCACTCACTGCCAATTGTCTCCATGACTGCAGACAAACAGAATGGAACAGTCTATACTTGCTCCAGTGACGGAAAGGTGAGGCAGCTGATTCCCATTTTCACAGATGTTGCATTGAAGTTTGAACACCAGTTGATTAAACTCTCAGATGTGTTTGGCTCAGTGAGGACTCACGGGATAGCAGTGAGCCCCTGCGGTGCATACCTGGCCATCATCACCACTGAGGGCATGATCAACGGCCTCCACCCTGTTAACAAAAACTACCAGGTCCAATTTGTTACTCTCAAAACCTTTGAAGAGGCAGCTGCTCAGCTCCTGGAATCTTCAGTTCAAAACCTTTTTAAGCAGGTAGATTTAATAGACCTAGTACGCTGGAAGATTTTAAAAGATAAACATATCCCTCAATTTTTACAAGAAGCTTTGGAAAAAAAGATTGAAAGCAGTGGAGTCACCTATTTTTGGCGTTTTAAGCTTTTCCTCCTGAGGATTTTATATCAGTCAATGCAGAAAACCCCTTCAGAAGCCTTGTGGAAACCCACCCATGAGGACTCAAAAATCTTACTAGTGGATTCGCCTGGGATGGGCAATGCTGACGATGAACAGCAGGAAGAAGGCACTTCTTCCAAACAGGTGGTGAAGCAAGGCCTGCAGGAGAGGAGCAAGGAAGGAGATGTAGAGGAGCCCACTGATGACTCGCTCCCCACGACTGGAGATGCTGGAGGCCGTGAGCCAATGGAAGAGAAACTCCTGGAAATCCAAGGGAAAATCGAAGCTGTGGAGATGCACTTGACCAGGGAACACATGAAGCGAGTCTTAGGAGAAGTGTATCTGCACACCTGGATCACA)GAAAACACTAGCATCCCCACCCGCGGACTCTGTAACTTTTTAATGTCTGATGAAGAGTATGATGACAGAACTGCACGG|ACGCTATGTCCAGCAAAGGCTCCGTGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGTGCATCCTCGTGTGGCTGAAGGAACAAGGCTATGACGTCATTGCCTATCTG___GCCAACATTGGCCAGAAGGAAGACTTCGAGGAAGCCAGGAAGAAGGCACTGAAGCTTGGGGCCAAAAAG___GTGTTCATTGAGGATGTCAGCAGGGAG(TTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAG___GGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAG___GTCATTGCTCCCTGGAGGATGCCTGAATTCTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACGCAAAG___CAACACGGGATTCCCATCCCGGTCACTCCCAAGAACCCGTGGAGCATGGATGAGAACCTCATGCACATCAG___CTACGAGGCTGGAATCCTGGAGAACCCCAAG___AACCAAGCGCCTCCAGGTCTCTACACGAAGACCCAGGACCCAGCCAAAGCCCCCAACACCCCTGACATTCTCGAGATCGAGTTCAAAAAAG___GGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGC___GGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTCCCGAG___GTATCTACGAGACCCCAGCAGGCACCATCCTTTACCATGCTCATTTAGACATCGAGGCCTTCACCATGGACCGGGAAGTGCGCAAAATCAAACAAGGCCTGGGCTTGAAATTTGCTGAGCTGGTGTATACCG___GTTTCTGGCACAGCCCTGAGTGTGAATTTGTCCGCCACTGCATCGCCAAGTCCCAGGAGCGAGTGGAAGGGAAAGTGCAGGTGTCCGTCCTCAAGGGCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTCTACAATGAGGAGCTGGTGAG___CATGAACGTGCAGGGTGATTATGAGCCAACTGATGCCACCGGGTTCATCAACATCAATTCCCTCAG___GCTGAAGGAATATCATCGTCTCCAGAGCAAGGTCACTGCCAAATAGACCCGTGTACAATGAGGAGCTGGGGCCTCCTCAATTTGCAGATCCCCCAAGTACAGGCGCTAATTGTTGTGATAATTTGTAATTGTGACTTGTTCTCCCCGGCTGGCAGCGTAGTGGGGCTGCCAGGCCCCAGCTTTGTTCCCTGGTCCCCCTGAAGCCTGCAAACGTTGTCATCGAAGGGAAGGGTGGGGGGCAGCTGCGGTGGGGAGCTATAAAAATGACAATTAAAAGAGACACTAGTCTTTTATTTCTA)$ MNTADQARVGPADDGPAPSGEEEGEGGGEAGGKEPAADAAPGPSAAFRLMVTRREPAVKLQYAVSGLEPLAWSEDHRVSVSTARSIAVLELICDVHNPGQDLVIHRTSVPAPLNSCLLKVGSKTEVAECKEKFAASKDPTVSQTFMLDRVFNPEGKALPPMRGFKYTSWSPMGCDANGRCLLAALTMDNRLTIQANLNRLQWVQLVDLTEIYGERLYETSYRLSKNEAPEGNLGDFAEFQRRHSMQTPVRMEWSGICTTQQVKHNNECRDVGSVLLAVLFENGNIAVWQFQLPFVGKESISSCNTIESGITSPSVLFWWEYEHNNRKMSGLIVGSAFGPIKILPVNLKAVKGYFTLRQPVILWKEMDQLPVHSIKCVPLYHPYQKCSCSLVVAARGSYVFWCLLLISKAGLNVHNSHVTGLHSLPIVSMTADKQNGTVYTCSSDGKVRQLIPIFTDVALKFEHQLIKLSDVFGSVRTHGIAVSPCGAYLAIITTEGMINGLHPVNKNYQVQFVTLKTFEEAAAQLLESSVQNLFKQVDLIDLVRWKILKDKHIPQFLQEALEKKIESSGVTYFWRFKLFLLRILYQSMQKTPSEALWKPTHEDSKILLVDSPGMGNADDEQQEEGTSSKQVVKQGLQERSKEGDVEEPTDDSLPTTGDAGGREPMEEKLLEIQGKIEAVEMHLTREHMKRVLGEVYLHTWITENTSIPTRGLCNFLMSDEEYDDRTAR|tlcpakapwfwptvaawtprasscg* 11BR051 ENSG00000005339.15 ENSG00000103426.12 -/- -/- chr16:3850297 chr16:4395339 CDS/splice-site CDS/splice-site duplication 0 2 0 80 52 medium in-frame . |Domain_of_unknown_function_(DUF1899)(100%),Pam16(100%),Type_of_WD40_repeat(100%),WD_domain__G-beta_repeat(100%) . . ENSG00000005339.15 ENSG00000103426.12 ENST00000262367.10 ENST00000572467.5 upstream downstream . ^(AATTGAGGAATCAACAGCCGCCATCTTGTCGCGGACCCGACCGGGGCTTCGAGCGCGATCTACTCGGCCCCGCCGGTCCCGGGCCCCACAACCGCCCGCGCACCCCGCTCCGCCCGGCCGGCCCGCTCCGCCCGGCCCTCGGCGCCCGCCCCGGCGGCCCCGCTCGCCTCTCGGCTCGGCCTCCCGGAGCCCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGAACGGGGGGTGGGGGGGCCGCGGCGGCGGCGGCGACCCCGCTCGGCGCATTGTTTTTCCTCACGGCGGCGGCGGCGGCGGGCCGCGGGCCGGGAGCGGAGCCCGGAGCCCCCTCGTCGTCGGGCCGCGAGCGAATTCATTAAGTGGGGCGCGGGGGGGGAGCGAGGCGGCGGCGGCGGCGGCACCATGTTCTCGGGGACTGCCTGAGCCGCCCGGCCGGGCGCCGTCGCTGCCAGCCGGGCCCGGGGGGGCGGCCGGGCCGCCGGGGCGCCCCCACCGCGGAGTGTCGCGCTCGGGAGGCGGGCAGGGGATGAGGGGGCCGCGGCCGGCGGCGGCGGCGGCGGCCGGGGGCGGGCGGTGAGCGCTGCGGGGCGCTGTTGCTGTGGCTGAGATTTGGCCGCCGCCTCCCCCACCCGGCCTGCGCCCTCCCTCTCCCTCGGCGCCCGCCCGCCCGCTCGCGGCCCGCGCTCGCTCCTCTCCCTCGCAGCCGGCAGGGCCCCCGACCCCCGTCCGGGCCCTCGCCGGCCCGGCCGCCCGTGCCCGGGGCTGTTTTCGCGAGCAGGTGAAAATGGCTGAGAACTTGCTGGACGGACCGCCCAACCCCAAAAGAGCCAAACTCAGCTCGCCCGGTTTCTCGGCGAATGACAGCACAG___ATTTTGGATCATTGTTTGACTTGGAAAATGATCTTCCTGATGAGCTGATACCCAATGGAGGAGAATTAGGCCTTTTAAACAGTGGGAACCTTGTTCCAGATGCTGCTTCCAAACATAAACAACTGTCGGAGCTTCTACGAGGAGGCAGCGGCTCTAGTATCAACCCAGGAATAGGAAATGTGAGCGCCAGCAGCCCCGTGCAGCAGGGCCTGGGTGGCCAGGCTCAAGGGCAGCCGAACAGTGCTAACATGGCCAGCCTCAGTGCCATGGGCAAGAGCCCTCTGAGCCAGGGAGATTCTTCAGCCCCCAGCCTGCCTAAACAGGCAGCCAGCACCTCTGGGCCCACCCCCGCTGCCTCCCAAGCACTGAATCCGCAAGCACAAAAGCAAGTGGGGCTGGCGACTAGCAGCCCTGCCACGTCACAGACTGGACCTGGTATCTGCATGAATGCTAACTTTAACCAGACCCACCCAGGCCTCCTCAATAGTAACTCTGGCCATAGCTTAATTAATCAGGCTTCACAAGGGCAGGCGCAAGTCATGAATGGATCTCTTGGGGCTGCTGGCAGAGGAAGGGGAGCTGGAATGCCGTACCCTACTCCAGCCATGCAGGGCGCCTCGAGCAGCGTGCTGGCTGAGACCCTAACG)CAGGTTTCCCCGCAAATGACTGGTCACGCGGGACTGAACACCGCACAGGCAGGAGGCATGGCCAAG|GACAAGCAGCTGCaGATCTTTGACCCCAGAACAAAGCCGCGGGCCTCTCAG___AGCACGCAGGCCCATGAGAACAGCAGGGATAGCCGGCTGGCATGGATGGGCACCTGGGAGCACCTTGTGTCTACTGGATTCAACCAG___ATGCGTGAGCGCGAAGTGAAGCTGTGGGACACGCGGTTCTTCTCCAGCGCCCTGGCC(TCCCTCACCTTGGACACCTCGCTTGG___GTGTCTCGTGCCTCTGCTGGACCCTGACTCTGGGCTCCTGGTCCTGGCAGGAAAG___GGCGAGAGGCAGCTGTACTGTTACGAGGTGGTCCCGCAGCAGCCGGCGCTGAGCCCAG___TGACCCAGTGTGTCCTGGAGAGCGTGCTGCGTGGGGCTGCCCTTGTGCCCCGGCAGGCGCTGGCCGTCATGAGCTGCGAGGTACTCCGCGTCCTACAGCTGAGCGACACAGCCATCGTGCCCATCGGCTACCATGTGCCCCGCAAG___GCTGTGGAGTTCCACGAGGACCTGTTCCCGGACACTGCCGGCTGTGTGCCTGCCACCGACCCCCATAGCTGGTGGGCTGGGGACAACCAGCAG___GTGCAGAAGGTCAGCCTCAACCCCGCCTGCCGGCCCCACCCGAGCTTCACTTCCTGTCTGGTGCCCCCTGCGGAGCCCCTCCCTGACACAGCCCAGCCTGCGGTGATGGAGACACCCGTGGGTGATGCAGACGCAAGC___GAGGGTTTCTCTTCCCCTCCCAGTTCGCTGACCTCGCCCTCCACGCCCTCCAGCCTGGGGCCCTCACTCTCCAGCACCAGTGGCATCGGGACCAGCCCCAGTTTGAGGTCGCTGCAGAGCCTGCTGG___GCCCCAGTTCCAAGTTCCGCCATGCTCAGGGCACTGTCCTGCACCGAGACAGCCACATCACCAACCTCAAGGGGCTCAACCTCACCACACCTGGTGAGAGTGACGGCTTCTGTGCCAACAAGCTGCGTGTGGCCGTGCCGCTGCTCAGCAGCGGGGGACAGGTGGCTGTGCTTGAG___CTACGGAAGCCTGGCCGCCTGCCCGACACGGCACTGCCCACGCTGCAGAATGGGGCAGCTGTGACTGATCTGGCCTGGGACCCCTTTGACCCCCATCGCCTCGCTGTGG___CTGGTGAGGACGCCAGGATCCGACTGTGGCGGGTACCCGCAGAGGGCCTGGAAGAGGTGCTCACCACGCCAGAGACTGTGCTCACAG___GCCACACGGAGAAGATCTGCTCCCTGCGCTTCCACCCACTGGCAGCCAATGTGCTGGCCTCGTCCTCCTATGACCTCACTGTTCGCATCTGGGACCTTCAGGCTGGAGCTGATCGGCTGAAGCTGCAGGGCCACCAAGACCAG___ATCTTCAGCCTGGCCTGGAGTCCTGATGGGCAGCAGCTGGCCACTGTCTGCAAGGATGGGCGTGTGCGGGTCTACAGGCCCCGGAGTGGCCCTGAGCCCCTGCAG___GAAGGCCCAGGGCCCAAGGGAGGACGCGGAGCTCGCATTGTCTGGGTATGTGATGGTCGCTGTCTGCTGGTGTCTGGCTTTGACAG___CCAAAGTGAGCGCCAGCTGCTCCTATATGAAGCTGAGGCCCTGGCCGGCGGACCCTTGGCAGTGTTGGGCCTGGACGTGGCTCCCTCAACCCTGCTGCCCAGCTACGACCCAGACACTGGCCTGGTGCTCCTGACCGGCAAG___GGCGACACCCGTGTATTCCTGTACGAGCTGCTCCCCGAGTCCCCTTTCTTCCTGGAGTGCAACAGCTTCACGTCGCCTGACCCCCACAAG___GGCCTCGTCCTCCTGCCTAAGACGGAGTGCGACGTGCGGGAAGTGGAGCTGATGCGGTGCCTGCGGCTGCGTCAGTCCTCCCTGGAGCCTGTGGCCTTCCGGCTGCCCCGAGTCCGG___AAAGAGTTCTTCCAGGATGACGTGTTCCCAGACACGGCTGTGATCTGGGAGCCTGTGCTCAGTGCCGAGGCCTGGCTGCAAGGCGCTAATGGGCAGCCCTGGCTTCTCAGCCTGCAGCCTCCTGACATGAGCCCAG___TGAGCCAAGCCCCCCGAGAGGCCCCTGCTCGTCGGGCCCCATCCTCAGCGCAGTACCTGGAAGAAAAGTCTGACCAGCAAAAGAAGGAGGAG___CTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGG___GCCAAGTACCTGGCCCAGATCATTGTGATGGGCGTGCAGGTGGTGGGCAGGGCCTTTGCACGGGCCTTGCGGCAGGAGTTTGCAG___CCAGCCGGGCCGCAGCTGATGCCCGAGGACGCGCTGGACACCGGTCTGCAGCCGCTTCCAACCTCTCCGGCCTCAGCCTCCAGGAGGCACAGCAGATTCTCAACGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGAAG___AACTATGAACACTTATTTAAGGTGAATGATAAATCCGTGGGTGGCTCCTTCTACCTGCAGTCAAAG___GTGGTCCGCGCAAAGGAGCGCCTGGATGAGGAACTCAAAATCCAGGCCCAGGAGGACAGAGAAAAAGGGCAGATGCCCCATACGTGACTGCTCGGCTCCCCCCGCCCACCCCGCCGCCTCTAATTTATAGCTTGGTAATAAATTTCTTTTCTGCA)$ MAENLLDGPPNPKRAKLSSPGFSANDSTDFGSLFDLENDLPDELIPNGGELGLLNSGNLVPDAASKHKQLSELLRGGSGSSINPGIGNVSASSPVQQGLGGQAQGQPNSANMASLSAMGKSPLSQGDSSAPSLPKQAASTSGPTPAASQALNPQAQKQVGLATSSPATSQTGPGICMNANFNQTHPGLLNSNSGHSLINQASQGQAQVMNGSLGAAGRGRGAGMPYPTPAMQGASSSVLAETLTQVSPQMTGHAGLNTAQAGGMAK|DKQLqIFDPRTKPRASQSTQAHENSRDSRLAWMGTWEHLVSTGFNQMREREVKLWDTRFFSSALASLTLDTSLGCLVPLLDPDSGLLVLAGKGERQLYCYEVVPQQPALSPVTQCVLESVLRGAALVPRQALAVMSCEVLRVLQLSDTAIVPIGYHVPRKAVEFHEDLFPDTAGCVPATDPHSWWAGDNQQVQKVSLNPACRPHPSFTSCLVPPAEPLPDTAQPAVMETPVGDADASEGFSSPPSSLTSPSTPSSLGPSLSSTSGIGTSPSLRSLQSLLGPSSKFRHAQGTVLHRDSHITNLKGLNLTTPGESDGFCANKLRVAVPLLSSGGQVAVLELRKPGRLPDTALPTLQNGAAVTDLAWDPFDPHRLAVAGEDARIRLWRVPAEGLEEVLTTPETVLTGHTEKICSLRFHPLAANVLASSSYDLTVRIWDLQAGADRLKLQGHQDQIFSLAWSPDGQQLATVCKDGRVRVYRPRSGPEPLQEGPGPKGGRGARIVWVCDGRCLLVSGFDSQSERQLLLYEAEALAGGPLAVLGLDVAPSTLLPSYDPDTGLVLLTGKGDTRVFLYELLPESPFFLECNSFTSPDPHKGLVLLPKTECDVREVELMRCLRLRQSSLEPVAFRLPRVRKEFFQDDVFPDTAVIWEPVLSAEAWLQGANGQPWLLSLQPPDMSPVSQAPREAPARRAPSSAQYLEEKSDQQKKEELLNAMVAKLGNREDPLPQDSFEGVDEDEWAKYLAQIIVMGVQVVGRAFARALRQEFAASRAAADARGRAGHRSAAASNLSGLSLQEAQQILNVSKLSPEEVQKNYEHLFKVNDKSVGGSFYLQSKVVRAKERLDEELKIQAQEDREKGQMPHT* 11BR051 ENSG00000005339.15 ENSG00000262246.6 -/- -/- chr16:3850297 chr16:4395339 CDS/splice-site CDS/splice-site duplication 0 2 0 80 52 medium in-frame . |Domain_of_unknown_function_(DUF1899)(100%),Type_of_WD40_repeat(100%),WD_domain__G-beta_repeat(100%) . . ENSG00000005339.15 ENSG00000262246.6 ENST00000262367.10 ENST00000251166.9 upstream downstream . ^(AATTGAGGAATCAACAGCCGCCATCTTGTCGCGGACCCGACCGGGGCTTCGAGCGCGATCTACTCGGCCCCGCCGGTCCCGGGCCCCACAACCGCCCGCGCACCCCGCTCCGCCCGGCCGGCCCGCTCCGCCCGGCCCTCGGCGCCCGCCCCGGCGGCCCCGCTCGCCTCTCGGCTCGGCCTCCCGGAGCCCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGAACGGGGGGTGGGGGGGCCGCGGCGGCGGCGGCGACCCCGCTCGGCGCATTGTTTTTCCTCACGGCGGCGGCGGCGGCGGGCCGCGGGCCGGGAGCGGAGCCCGGAGCCCCCTCGTCGTCGGGCCGCGAGCGAATTCATTAAGTGGGGCGCGGGGGGGGAGCGAGGCGGCGGCGGCGGCGGCACCATGTTCTCGGGGACTGCCTGAGCCGCCCGGCCGGGCGCCGTCGCTGCCAGCCGGGCCCGGGGGGGCGGCCGGGCCGCCGGGGCGCCCCCACCGCGGAGTGTCGCGCTCGGGAGGCGGGCAGGGGATGAGGGGGCCGCGGCCGGCGGCGGCGGCGGCGGCCGGGGGCGGGCGGTGAGCGCTGCGGGGCGCTGTTGCTGTGGCTGAGATTTGGCCGCCGCCTCCCCCACCCGGCCTGCGCCCTCCCTCTCCCTCGGCGCCCGCCCGCCCGCTCGCGGCCCGCGCTCGCTCCTCTCCCTCGCAGCCGGCAGGGCCCCCGACCCCCGTCCGGGCCCTCGCCGGCCCGGCCGCCCGTGCCCGGGGCTGTTTTCGCGAGCAGGTGAAAATGGCTGAGAACTTGCTGGACGGACCGCCCAACCCCAAAAGAGCCAAACTCAGCTCGCCCGGTTTCTCGGCGAATGACAGCACAG___ATTTTGGATCATTGTTTGACTTGGAAAATGATCTTCCTGATGAGCTGATACCCAATGGAGGAGAATTAGGCCTTTTAAACAGTGGGAACCTTGTTCCAGATGCTGCTTCCAAACATAAACAACTGTCGGAGCTTCTACGAGGAGGCAGCGGCTCTAGTATCAACCCAGGAATAGGAAATGTGAGCGCCAGCAGCCCCGTGCAGCAGGGCCTGGGTGGCCAGGCTCAAGGGCAGCCGAACAGTGCTAACATGGCCAGCCTCAGTGCCATGGGCAAGAGCCCTCTGAGCCAGGGAGATTCTTCAGCCCCCAGCCTGCCTAAACAGGCAGCCAGCACCTCTGGGCCCACCCCCGCTGCCTCCCAAGCACTGAATCCGCAAGCACAAAAGCAAGTGGGGCTGGCGACTAGCAGCCCTGCCACGTCACAGACTGGACCTGGTATCTGCATGAATGCTAACTTTAACCAGACCCACCCAGGCCTCCTCAATAGTAACTCTGGCCATAGCTTAATTAATCAGGCTTCACAAGGGCAGGCGCAAGTCATGAATGGATCTCTTGGGGCTGCTGGCAGAGGAAGGGGAGCTGGAATGCCGTACCCTACTCCAGCCATGCAGGGCGCCTCGAGCAGCGTGCTGGCTGAGACCCTAACG)CAGGTTTCCCCGCAAATGACTGGTCACGCGGGACTGAACACCGCACAGGCAGGAGGCATGGCCAAG|GACAAGCAGCTGCaGATCTTTGACCCCAGAACAAAGCCGCGGGCCTCTCAG___AGCACGCAGGCCCATGAGAACAGCAGGGATAGCCGGCTGGCATGGATGGGCACCTGGGAGCACCTTGTGTCTACTGGATTCAACCAG___ATGCGTGAGCGCGAAGTGAAGCTGTGGGACACGCGGTTCTTCTCCAGCGCCCTGGCC(TCCCTCACCTTGGACACCTCGCTTGG___GTGTCTCGTGCCTCTGCTGGACCCTGACTCTGGGCTCCTGGTCCTGGCAGGAAAG___GGCGAGAGGCAGCTGTACTGTTACGAGGTGGTCCCGCAGCAGCCGGCGCTGAGCCCAG___TGACCCAGTGTGTCCTGGAGAGCGTGCTGCGTGGGGCTGCCCTTGTGCCCCGGCAGGCGCTGGCCGTCATGAGCTGCGAGGTACTCCGCGTCCTACAGCTGAGCGACACAGCCATCGTGCCCATCGGCTACCATGTGCCCCGCAAG___GCTGTGGAGTTCCACGAGGACCTGTTCCCGGACACTGCCGGCTGTGTGCCTGCCACCGACCCCCATAGCTGGTGGGCTGGGGACAACCAGCAG___GTGCAGAAGGTCAGCCTCAACCCCGCCTGCCGGCCCCACCCGAGCTTCACTTCCTGTCTGGTGCCCCCTGCGGAGCCCCTCCCTGACACAGCCCAGCCTGCGGTGATGGAGACACCCGTGGGTGATGCAGACGCAAGC___GAGGGTTTCTCTTCCCCTCCCAGTTCGCTGACCTCGCCCTCCACGCCCTCCAGCCTGGGGCCCTCACTCTCCAGCACCAGTGGCATCGGGACCAGCCCCAGTTTGAGGTCGCTGCAGAGCCTGCTGG___GCCCCAGTTCCAAGTTCCGCCATGCTCAGGGCACTGTCCTGCACCGAGACAGCCACATCACCAACCTCAAGGGGCTCAACCTCACCACACCTGGTGAGAGTGACGGCTTCTGTGCCAACAAGCTGCGTGTGGCCGTGCCGCTGCTCAGCAGCGGGGGACAGGTGGCTGTGCTTGAG___CTACGGAAGCCTGGCCGCCTGCCCGACACGGCACTGCCCACGCTGCAGAATGGGGCAGCTGTGACTGATCTGGCCTGGGACCCCTTTGACCCCCATCGCCTCGCTGTGG___CTGGTGAGGACGCCAGGATCCGACTGTGGCGGGTACCCGCAGAGGGCCTGGAAGAGGTGCTCACCACGCCAGAGACTGTGCTCACAG___GCCACACGGAGAAGATCTGCTCCCTGCGCTTCCACCCACTGGCAGCCAATGTGCTGGCCTCGTCCTCCTATGACCTCACTGTTCGCATCTGGGACCTTCAGGCTGGAGCTGATCGGCTGAAGCTGCAGGGCCACCAAGACCAG___ATCTTCAGCCTGGCCTGGAGTCCTGATGGGCAGCAGCTGGCCACTGTCTGCAAGGATGGGCGTGTGCGGGTCTACAGGCCCCGGAGTGGCCCTGAGCCCCTGCAG___GAAGGCCCAGGGCCCAAGGGAGGACGCGGAGCTCGCATTGTCTGGGTATGTGATGGTCGCTGTCTGCTGGTGTCTGGCTTTGACAG___CCAAAGTGAGCGCCAGCTGCTCCTATATGAAGCTGAGGCCCTGGCCGGCGGACCCTTGGCAGTGTTGGGCCTGGACGTGGCTCCCTCAACCCTGCTGCCCAGCTACGACCCAGACACTGGCCTGGTGCTCCTGACCGGCAAG___GGCGACACCCGTGTATTCCTGTACGAGCTGCTCCCCGAGTCCCCTTTCTTCCTGGAGTGCAACAGCTTCACGTCGCCTGACCCCCACAAG___GGCCTCGTCCTCCTGCCTAAGACGGAGTGCGACGTGCGGGAAGTGGAGCTGATGCGGTGCCTGCGGCTGCGTCAGTCCTCCCTGGAGCCTGTGGCCTTCCGGCTGCCCCGAGTCCGG___AAAGAGTTCTTCCAGGATGACGTGTTCCCAGACACGGCTGTGATCTGGGAGCCTGTGCTCAGTGCCGAGGCCTGGCTGCAAGGCGCTAATGGGCAGCCCTGGCTTCTCAGCCTGCAGCCTCCTGACATGAGCCCAG___TGAGCCAAGCCCCCCGAGAGGCCCCTGCTCGTCGGGCCCCATCCTCAGCGCAGTACCTGGAAGAAAAGTCTGACCAGCAAAAGAAGGAGGAG___CTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGG___GACTAGCCTGCGCCCCCGTCACCTCCACCTCACCTGTGCTGCCACTTCCTAGTGCACACCTCACGGCTCATCCTCAAGCTGGAAGATACCTCTCTGGCCCCGGCACATGTCACCCCTGCACTCCTGCCTTCCCGTGGGCACTTCCACATCCTCTGGGCCTCTGGCAGTTCCCAGGGACTGTTTTCACCTCTGCTGTCTCTGGGGTCAGCTGCTGCTCATCAGCTGCCCGCTAGCATGTGGCCAGGGGTGCAGGGTGGCGGGGGGTCAGCAGCATGTCCCTGGGCAGGCCCTGGGCACCCTGTCTCCCCTGGTCTCACTGCTGACCTGGGCTGGTCCCAGCCTGGATTGGCCTCATCCAGGATCTTTGGTCACCCCACGCTGCCCCATCTTGCCTGCTGTTCCAGTTCTGGTCAAGGGCCTTGGGGGCTGGCCCCCCACCAGGCCTTCTAGAGCAGCACCAGTCTCAGGGCCCTGGGACCAGCTGCCCTACTTCCCAGGTTTGTAGCCAGGAGAAGGGGGCATCACAGAGCTGATGGTCCAATAAGGGGGGTGTGAGCCCCGCAGGGACTGGCCCGCACCTGCCTTGGATGTTTTCAGCAATTAAACTTTTTTAAGCTGGCCA)$ MAENLLDGPPNPKRAKLSSPGFSANDSTDFGSLFDLENDLPDELIPNGGELGLLNSGNLVPDAASKHKQLSELLRGGSGSSINPGIGNVSASSPVQQGLGGQAQGQPNSANMASLSAMGKSPLSQGDSSAPSLPKQAASTSGPTPAASQALNPQAQKQVGLATSSPATSQTGPGICMNANFNQTHPGLLNSNSGHSLINQASQGQAQVMNGSLGAAGRGRGAGMPYPTPAMQGASSSVLAETLTQVSPQMTGHAGLNTAQAGGMAK|DKQLqIFDPRTKPRASQSTQAHENSRDSRLAWMGTWEHLVSTGFNQMREREVKLWDTRFFSSALASLTLDTSLGCLVPLLDPDSGLLVLAGKGERQLYCYEVVPQQPALSPVTQCVLESVLRGAALVPRQALAVMSCEVLRVLQLSDTAIVPIGYHVPRKAVEFHEDLFPDTAGCVPATDPHSWWAGDNQQVQKVSLNPACRPHPSFTSCLVPPAEPLPDTAQPAVMETPVGDADASEGFSSPPSSLTSPSTPSSLGPSLSSTSGIGTSPSLRSLQSLLGPSSKFRHAQGTVLHRDSHITNLKGLNLTTPGESDGFCANKLRVAVPLLSSGGQVAVLELRKPGRLPDTALPTLQNGAAVTDLAWDPFDPHRLAVAGEDARIRLWRVPAEGLEEVLTTPETVLTGHTEKICSLRFHPLAANVLASSSYDLTVRIWDLQAGADRLKLQGHQDQIFSLAWSPDGQQLATVCKDGRVRVYRPRSGPEPLQEGPGPKGGRGARIVWVCDGRCLLVSGFDSQSERQLLLYEAEALAGGPLAVLGLDVAPSTLLPSYDPDTGLVLLTGKGDTRVFLYELLPESPFFLECNSFTSPDPHKGLVLLPKTECDVREVELMRCLRLRQSSLEPVAFRLPRVRKEFFQDDVFPDTAVIWEPVLSAEAWLQGANGQPWLLSLQPPDMSPVSQAPREAPARRAPSSAQYLEEKSDQQKKEELLNAMVAKLGNREDPLPQDSFEGVDEDEWD* 11BR051 ENSG00000134775.15 ENSG00000164627.18 +/+ -/- chr18:36625749 chr6:39714766 CDS/splice-site CDS/splice-site translocation 0 2 0 7 5 medium in-frame . |Kinesin_motor_domain(100%) . . ENSG00000134775.15 ENSG00000164627.18 ENST00000257209.8 ENST00000287152.12 downstream downstream . ^(AGCCTGCGAGTCCGCGAGCCAGCGAGCTGCGGCTGCGGCCTCCCCTGCGCGCAGCTACCCGGGCGTCCCGGCCCGCGGCCCCGCTAACCCCGGGGCCCGCGCCCCCGCGGCAGGGATGCATCATGGCCACGCTGGCTTGCCGGGTGCAGTTCTTGGACGACACGGACCCTTTCAACAGCACCAACTTCCCCGAGCCCAGCCGGCCGCCGCTGTTCACGTTCCGCGAGGACCTCGCGCTCGGCACCCAGCTGGCGGGGGTCCATAGGCTGCTGCAGGCGCCGCACAAG___CTGGATGACTGTACTCTGCAGCTCTCTCACAATGGCGCCTACCTGGATTTGGAGGCCACCCTGGCAGAGCAGCGGGATGAGTTGGAAGGCTTCCAGGATGACGCCGG___GCGGGGCAAGAAGCACAGCATCATCCTAAGGACGCAGCTGTCTGTGAGGGTCCATGCCTGCATCG___AAAAACTATACAACTCCAGCGGACGAGATTTGAGAAGGGCCCTCTTCTCCCTGAAGCAGATATTTCAG___GATGACAAGGATTTGGTGCATGAATTTGTAGTGGCTGAAGGTCTGACATGTTTGATCAAGGTGGGAGCTGAGGCTGATCAGAACTATCAGAACTACATCTTAAGGG___CTTTGGGCCAGATTATGTTGTATGTGGATGGAATGAATGGAGTAATAAACCGCAATGAAACCATTCAGTGGCTGTACACTCTCATTGGGTCAAAG___TTCCGCCTGGTGGTGAAGACAGCCCTGAAGCTGCTGCTCGTCTTTGTAGAGTACTCGGAGTCCAACGCACCTCTCCTAATTCAGGCTGTCACTGCTGTTGACACGAAAAGAG___GGGTCAAACCTTGGTCAAATATCATGGAAATCCTGGAGGAAAAAGATGGAGTTGATACGGAGCTACTGGTTTATGCAATGACTTTGGTGAACAAG___ACGTTATCAGGACTACCAGACCAAGACACCTTCTACGACGTCGTGGACTGCCTGGAGGAGCTGGGCATTGCTGCTGTGTCCCAGAGGCACTTGAACAAGAAAGGGACTGACCTGGACTTAGTGGAGCAACTCAACATTTATGAG___GTGGCGCTCAGGCACGAGGATGGCGATGAGACCACGGAGCCACCCCCCAGTGGGTGCCGGGACCGGAGGAGGGCCAGCGTGTGTTCCAGTGGCGGAGGCGAGCACCGGGGCCTGGACCGCAGAAGGAGCCGCAGGCACTCGGTGCAGAGCATCAAGAGCACCCTGTCGG)CCCCCACCgGTCCCTGCTCCCAGTCAGCTCCCAGCTTCAAGCCCAACCAAGTGCGAGATCTGCGTGAAAA|ATTTCAAAGAATTTTTGATCAGGATGCAAACCAAGAGACCGTTTTTGAAAACATTGCCAAACCAGTTGCTGGG(AG___TGTCCTGGCAGGTTACAATGGTACCATCTTTGCATATGGGCAAACAGGCAGCGGGAAGACATTCACTATCACAGGGGGTGCAGAGCGTTACAGTGACAGAGGCATTATCCCAAGGACACTGTCATACATTTTTGAACAGTTACAAAAG___GACAGCAGCAAAATATATACAACACACATTTCCTATTTGGAAATCTACAATGAATGTGGTTATGATCTTTTGGATCCAAGACATGAAGCCTCCAGTTTGGAAGATTTGCC___GAAAGTGACAATACTGGAGGATCCTGATCAGAACATTCACCTGAAAAACTTGACTCTCCATCAGGCAACCACAGAGGAAGAAGCTCTGAATTTGCTTTTTTTAGGAGACACCAACCGAATGATTGCAGAG___ACTCCTATGAACCAAGCTTCAACCCGTTCCCACTGCATTTTCACCATTCATTTGTCAAGCAAGGAACCAGGATCTGCAACTGTACGACATGCCAAACTCCATCTGGTTGACCTGGCTGGTTCAGAGCGAGTTGCAAAGACTGGAGTAGGGGGCCATCTTCTAACAGAGGCCAAGTATATCAACTTGTCACTACATTACTTAGAACAG___GTTATCATTGCCCTTTCAGAAAAGCACCGTTCGCACATTCCTTATAGAAACTCCATGATGACCAGTGTCCTAAGAGACAGTTTGGGAGGGAACTGCATGACAACTATGATTGCAACACTCTCCTTGGAGAAAAGGAATCTTGAT___GAGTCTATATCAACCTGCAGATTTGCACAGCGAGTGGCACTCATAAAGAATGAAGCTGTTCTTAATGAAGAAATTAACCCCAGATTA___GTGATTAAACGCCTACAAAAGGAAATCCAGGAACTGAAGGATGAACTGGCCATGGTCACTGGGGAGCAGAGGACAGAGGCACTCACAGAAGCAGAGCTCCTTCA___GCTGGAAAAACTAATAACATCCTTTTTGGAAGACCAGGATTCAGACAGTAGATTAGAGGTTGGCGCGGATATGCGTAAAGTTCATCACTGTTTTCATCATTTAAAG___AAACTATTGAATGACAAGAAGATCCTTGAAAACAATACAGTCTCCTCTGAAAGCAAAGACCAAGATTGTCAAGAACCATTAAAAGAAGAAGAATATAGAAAGCTACGAGATATTCTGAAACAGAGAGATAACGAAATCA___ATATCCTGGTCAACATGTTAAAAAAAGAAAAGAAGAAAGCTCAGGAGGCTCTCCACTTGGCTGGCATGGATAGACGTGAATTCAGACAGTCCCAGAGCCCACCCTTCCGCCTAGGAAACCCAGAAGAAGGTCAAAGAATGCGACTATCCTCAGCTCCCTCACAGGCCCAGGACTTCAGCATTTTGGGGAAAAGATCCAGTTTGCTCCACAAGAAAATAG___GAATGAGAGAGGAAATGTCATTAGGATGCCAGGAGGCTTTTGAAATCTTCAAGAGGGACCACGCTGACAGCGTTACCATCGATGACAACAAACAGATTCTGAAACAGAG___ATTTTCTGAAGCCAAGGCCCTGGGAGAAAGTATAAATGAAGCAAGAAGTAAAATTG___GTCACCTGAAGGAAGAAATCACCCAGCGGCATATACAGCAAGTAGCCCTAG___GAATCTCGGAAAACATGGCCGTGCCTCTGATGCCAGACCAGCAGGAGGAGAAGCTGCGATCACAACTGGAGGAAGAAAAGAGAAG___GTATAAAACAATGTTCACTCGCCTGAAAGCCCTGAAGGTGGAGATCGAGCACTTGCAGCTGCTCATGGACAAAGCCAAGGTGAAGCTACAGAAAGAGTTTGAAGTCTGGTGGGCAGAGGAGGCCACCAACCTGCAG___GTAAATTCTCCAGCAGTGAATTCACTCGATCACACGAAGCCATTTCTCCAGACATCTGACTCCCAGCATGAATGGTCCCAACTCCTCTCTAACAAAAG___TTCTGGAGGCTGGGAAGTCCAAGATCAAGGCACTGGCAGATTCGATGTCTG___TGATGTGAATGCCAGGAAAATCCTGCCCTCGCCTTGCCCCAGTCCACACAGCCAGAAACAGAGCAGCACCAGCACCCCACTGGAAGACAG___CATCCCCAAGAGGCCAGTGTCGTCCATCCCTCTCACCGGAGACAGCCAGACGGACTCGGACATCATCGCCTTCATCAAGGCCAGACAGAGCATTCTGCAGAAGCAAT___GTTTGGGAAGCAATTGAATTTCCAGGAAATATCCATCCATGAATTATGCCAGCAAGAATGAAGCACAGATGAAGGCAGCGCCCCTCACTTGCTCTGGCTTCAGAAGTGAACTATGGGCTGCTGGGAGCAACTAGTGACTTTGATTCCCATGGAGGGGACTGTGTTTCTTTAAGGATGCTGACCTGGAGGCCACCGAGAGGCTGGGGCTGGGGCTGACCACAACATCCTTCCTGTGGTTGCTGGAGCTGCTGGCAGGGCCAGGCAAGGCCAGAGTGCTAGGGGCAGGGTGAAGGCTTCAGCTCACTGTTGTAGTGACGTTTTGTGTAGATCTTTATAAGCTTTTGAGAATGTGAAATAGCACCATCAAAATATAATGTCAGAGGATGCTCACACCAGTGGAATGTGGGGGGAATATTTTTATTTTTAACGATTTGCCAGCTCTCTCCCTTGGCCCGTGCTCTGGTTTGGAAGCCCAGAAATGGCCATGACAGGTCCAGGCAGGATGTCCCAGCCACAGGCAAGGCAGTGGAATGCAGGGCATCCTGAAGGCCAATCCTGATCTCCCAGACCACATCTTTCACCATCAGCCTCTTGGCCAGGATGACCTGGAGGCAGTGCCTGAACAGCTGTGTCTCCAGGGAGCCATCTGCCCTGCAGGGTCTAAGGACATCATAGCACCCAGAGAACAGTGGGCAGCTCCCAGGGGCTCTGCTGAGAGCTTGAGAGAGGGCAGTGTGGGTACCTTGGGCCTCACAACCTTCACCCAGCCACTTGGGAGGATTTGGGCTGACACTCCCCACTTCCACAGGGAAAAACATAGCTGCCTGGGGGTCTTGTCTCCATGGGCCCTCTCCATGACAGATCCAAGGGAAGGTGGGCAGCCCTCAAGGAGGTTCTTGAAGAACTGCCCCCTGGGCCAGGGGGTTCCAACCCAGCTGCAGCCAGGGAGGGGCAGCGGAGGGTGAGCAGGAGTGGCACCTGGAAATGAAGCTAACTGGATAAAAGTGCTGGTCCACTGCTCCTGGTGTCTCTGTCCTATAAATACAGGACCTGATGACCCTGGAGGGGAGCAGAGTGGTAATATAGTATAATTGGCTTGATTTTCTTTTTCGTTTTTTAGGACTGGGTAACAGGATCATGCAGGAGAAGATTAAACCATTACATTTCTAAGCTAGGCAGGCCCATCGAGCTCCTCTAATCCACACCCCTATTTTATATAATTAGAAGGCCAGAGTGAAGGGGAGATTCAGCTTGCTGTTCTATGCCACTGACAAATGTCCCCTCTTCAGGGGGCTTCCCCTGACCACTCCATCTCGAGTCACCCCCTAGTTATCCCCTATCCCATTACCATTTTTTCTGCATCACTATCTGACATGTTATCCTTCCGAACTTGCCTATTTTTGAAATACCTGCAACCCCCCATAATACTAAGAGCTCCAATGCAACAGGGACCTGTTTGTCTTGCTCATTGCTGTGTCCCAAGCACAGAGTCGCTGTTCAGTAAACGGTCCTTCAGTTCATGAGTAGACGAGCCAGAACCCAGATGTGTTTCTCAGGCTGGTGTCACTCTGACTTCCCCCAGGCTCTGACTGAATCCCATCGGGACAGGGGCCAGCATCTCTGGTCCACTCCTGGCCCTCACAGTTCAATGGAACATAGTAAGCCCTCTGTAAAGTCTGTAGAACCAGAGGAAGACCAAATTCTGATTCTAGAAGCCTCCCCAAGAGTCCATGGAACACACATGTAACTGCACACACACACACACATACACACACACACTCTCAAGAGCCCTGAAGATGGCATGGCATTTGCCCCAGTCCCCTATGTAGCAGCAGCAGTATTCTTGGCATGCCTTAGTGCCCTCAGCCCTCTAGAGCTGGGTAGAGTCTACTAACTTTTATTTTCTTTTATTTTTACTTTCTTTTATTTATTTTTTGAGATGGGGGGGGTCTCTGTCAGCCAGGCTGGGGTGCAGTGGTGCGACCATACCTCACTAGTCAGCCTCCAACTCCTGGGCTCAAGCCATACTCAGCCTCCAACTCCTGGGCTCAAGCGATCCTCTCACCTCAGCCTCCAAAGTAGCTGGAACTACAGGCATGCACCACCACACCTAGCTCGTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTGGCTCAGGATGGTCTCAAATTCCTGGCCTTAAGCGATGCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACATACCCTGCCAGAGTCTTTCAACATTAGATCTCCCACTGAGACATCATCTCCTGGATCCAAAGGCCTTACTGACAGAGATGTGTGGCATGGCCCCATGCGGGGTGTGAACCAGCCTCCTGGGGCAATCACTAAGACAGGAAAGGAAATGAAGACAGAAAAACACACAACATGGGATCTGGGGCCACTGGTGTCCAGAGCATATGCAAAGTGTGTGCAGCAACTGGCCAAGGGGCCTTTTGCTCCGAACATCCCCTAATGGAAGCCCAGCCTTTGATATGGACACATGCTTGACAGCAGTGCACCTTCCCAGAGTTCACTGGCCTCTGCAAATGGGAGAAATTGATGCAATGTTTTGAAAAGACTTTCCAGCAATCCACCTGGGATCAGTGGAGCCACGGATGACAAGAAGTATCTGAGTTCACTCTAGGCCAAAATGTGGGATTTTCAAAAACATTTTCTGGAAAGCAGCCTAGCCAGTGACTCCAGCCCAGTCCCTGCTAGAATTCAACTGGCTCTACCAATCCCTTGACAAGAAGTAGGGTGGACGGAGGTTGGAGGAGGGAAGTTAAAATGTAGCTTGCCCAGATCTTGCTAAAAAGGAGTTTTAGAAAGCAGATAGAGAAATTGTGGTATACTGAATACATCATTTTAATTCTTCACCACCAGTATAGAATTACACATCCAAAGCTTTGTCATGGCCCACTTTGACTAATGTGGTGTTGGCAAACCTGATCCAGGCAGAGGCTTGAATTGTGCTCTCATGGTTGAGCTTGCCTCTTGCTCCAGTGATCTCTCTTGGGATGAACATGCCATGGGTAGCTGCTGCCCCTTCAGCCTGGAACATCCAGAGAGCAGACCTGAGCCCAGTCTACAGCCTGGAGCAGAGCCTCCCAGGCAAGCCCAGCCCAGATCAGCTGAACTATGGCTCACCCAAAGACCTATTGGCATGAGAATATATGCTGCTTGTCATAAACCACTGAGGTTTAGAGTGGTTTGTTATATAGCATTAATTGTAGCAATAGCAGACTGGCACAGAAATTGGAACCCAGAGACAGTATATGACTGGATCTAGGATTTCTCAGTGCAGAGTTCATTGTCTCTCCATGCAGCCTGTGGAAAGGCACTGAGAGCATCCTGTATATGGAAAAGCAGGACCACCACCTACAGCCATGATGAAGCAACAAGGACCTGATTTACCCTCCTGCTTTAAATGACTAAAAATGAGACAAAATCCTCTATACAAACCAATGGTTTTCAGCCATTGGATAACAAGCAATATAGGGTATGATTGATCCGCAAGAGAAGGGAAACAAGTGAGGGGAGCCCTATGATTGCTCCAACTTACTGCCTGCAGTGAGTTTTCAGGCTGCAGCCCAGGAAGGGGGAACCAGGTAGAGCCCAGTGGTTTCCCTGAGTTGAGGAAATGGAGCTGGGAATCCAGGGAGGACAAAGTGGCTTAAATTTGCAAGGCAGAGTCCCAGGGATGAGAGAGAGAGAAGGAGAGAGAGAGGAGAAAAAAGAGAGAGAAAGAGAGAGAGCATGCTCTGGAGATCTTCAGAGGGTTACCCTTGAGTCTTCAGCTAACTACCGATCAACATCTGCATGTGAAGAAATTACCCAAGGCAGGGGAAAGAACCACCAGGAGGAAGCAGGTGGAATAATTTCCTGAGATAACACTGTGTTGGGAAGAGTTCATGTTTCCAACAGCCAGAGTGGAGAAACCTCCCAAAACAGTCATTGTATAGAGACACATAAGGTACTGCCTCAGAAGTGGGGCCAAATTAGTCCTAGATGATAGATTGCTCTGGTCCCACCTAACAAAGCTTAAAAAGCCAGCCCCAAAGGAGTCAAATTGTTTCCAGTAAGTTTCCAAGTAACTTCAATGAGTCCCAAAACAAAGCTTCAAAATATCTAAAGGAATATGAAAAACAAACCAAAAAGAAACCAGCATCCAACAATATAGAATCCACAATGTCTGGTGTCCATTAAAAAATAATCAGGCATGCAAAGAAGCAGGAAAATATGGGCCATGAGAGGAGAAAAAACCATCAATAGAAATAGAGGCCGGGTGTGGTGGCTCACTCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGTTCAACATGGGGAAACCCCGTCTCTACTAAAAATACAAAAAATAGCCGGGCATGGTGTTGCGTACCTGTAATCCCAGCTACTCAGAGGCTGAGGCAGGAGAATTGCTTGAGCCCAGGAGGCAGAGGTTACAGTGAGCCGAAATTGTGCCATTGCACTCCAGCTTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAGAAAAAACAAATAGAAACAGCCCCAGGCATGGCACAGTTGATAGAGTAAATAGACAGAAACATTTTTTAAAATGCAATGGGTGTGTGTTTCAAATCTAGGCAGAAAAAATGCTCCTTGTAATTCCTTAAACATAAGCATGTCTCATTCATCTGGTCATTGTTTTGACAAGGATGTGCCATCCATTGTGCTAAGTTCTGAGGAGTCAGAGGTGACAGAGACAGAGAAAGTGCCAGCATTCTTGGAACCTTCTAACGAAGGAGAGGGACAAGCCAGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCTGGCGGATCACGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGCGAAACCCCATCGCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGACAATCACTTGAACCCTGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAGACTCCTTCTCTGAAAAAAAAAAAAAGAGAGGGACAATAAACAAGTAAGCAAGACAATCTGATTAAGAAGGAGTTGGGGTTAGCTGGGCATGGTAGCAAGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGGATCCTTGAACCCAGGAGGTTAAGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGATGACAGAGCAAGACCCTGTCTCAGAAAAAGAAGAAGGAGTTGGGGGTGGGGTAGGATGGGCTTGGACTCACTATCAAGGTGGGTGGGAGTGTGAGAACCCGGCAAGGTGCAAAGAGAGAAGCAGGGAAGGGAAGCTTAGGACAATGATGGCAGGTTGGGTATTGGGTGATGGGAAGAGGCAAAGGACGTGGAGCTTGGCAAAAAGGGGACTTGTGGGGATTTGGGCCATGTGAGCATGTGGGGGAGACAGTGTTCCTTCCATAACACGTGTCCAGGGACTGCCAGGGCTCCGAGGCAGAGCAGGTGTAGAGAGGTTGGCTGTGAATGTTGGATGTTGAAAACATATGTGTCAAATGTGGGAGGAAAAAGCAGTGTTTCCTTGAATACAAGCTCCTCCTCACCTTGCGAAAAGTGGCCTCTGAGTGTAGCCCTGAATGCATCTCCCAAGGAATAGGAGGAAGCAGCAACCTTTTCAGAGTTAACTGCTTTATTTGGGTTTTCCATGGCCTCGTGCCAGCCAGCAGGGCTGAGCCAGTTTCACCCACACTGAGAGGGAACTCAGCAAAGAGCAAGCAGCATGCCAGCTGGTACTCTTCCCTCTCCATTCACTCAGCTCCTGATCTCAGGAGGGCAGCCCCTCCCCAGGCCAGCACCCCTCCCCTTCTGGCCCCAGGTGTGGGATGTTGTTGTTTTCTTTTCTCCGAAACATCTCCTGGGTTTGTCTTTTCCATCACTGTCTTTAGACTGAGGCAAGCAGTCCCCATGCCTTCAGCCCCATGTTTTGGGGGTAACCTGTGCTTTGACATGCTTTGCTAAAAACTTTCTAAGTCTCCCTCTGGTGCTGGGACCAGCCATGACCAACAACGTCATCCATGCAGGCCACCCCTAACATAGTCCAGGCCTCATGTGGGTCTCAGTTCCCTTTTCTTCTTTCAGGAAGTTCTCCAGTGCATGCATAGGGTTGACCAGATGTCCCAAGGTGCTCTAGGACTTATGCCTATGAAGCTGTTTTAGGGCTTCCTAGTCAGTCCCTGGTTCCAGGAAAGCAGCCTGATGAGGAGATCATTCCCGCTGGCTGGTGTGGCATTTCTTTTATGGCACTACCTGGGATTGGGCCACCAGACCTGCGCTAACATGCTGATTTGATGGACTCTTAACATCATAGGACAAAGAATCGTCATGTGAACCAATTAGACAATAAACAAATGCCTAAGTGCC)$ MATLACRVQFLDDTDPFNSTNFPEPSRPPLFTFREDLALGTQLAGVHRLLQAPHKLDDCTLQLSHNGAYLDLEATLAEQRDELEGFQDDAGRGKKHSIILRTQLSVRVHACIEKLYNSSGRDLRRALFSLKQIFQDDKDLVHEFVVAEGLTCLIKVGAEADQNYQNYILRALGQIMLYVDGMNGVINRNETIQWLYTLIGSKFRLVVKTALKLLLVFVEYSESNAPLLIQAVTAVDTKRGVKPWSNIMEILEEKDGVDTELLVYAMTLVNKTLSGLPDQDTFYDVVDCLEELGIAAVSQRHLNKKGTDLDLVEQLNIYEVALRHEDGDETTEPPPSGCRDRRRASVCSSGGGEHRGLDRRRSRRHSVQSIKSTLSAPTgPCSQSAPSFKPNQVRDLREk|FQRIFDQDANQETVFENIAKPVAGSVLAGYNGTIFAYGQTGSGKTFTITGGAERYSDRGIIPRTLSYIFEQLQKDSSKIYTTHISYLEIYNECGYDLLDPRHEASSLEDLPKVTILEDPDQNIHLKNLTLHQATTEEEALNLLFLGDTNRMIAETPMNQASTRSHCIFTIHLSSKEPGSATVRHAKLHLVDLAGSERVAKTGVGGHLLTEAKYINLSLHYLEQVIIALSEKHRSHIPYRNSMMTSVLRDSLGGNCMTTMIATLSLEKRNLDESISTCRFAQRVALIKNEAVLNEEINPRLVIKRLQKEIQELKDELAMVTGEQRTEALTEAELLQLEKLITSFLEDQDSDSRLEVGADMRKVHHCFHHLKKLLNDKKILENNTVSSESKDQDCQEPLKEEEYRKLRDILKQRDNEINILVNMLKKEKKKAQEALHLAGMDRREFRQSQSPPFRLGNPEEGQRMRLSSAPSQAQDFSILGKRSSLLHKKIGMREEMSLGCQEAFEIFKRDHADSVTIDDNKQILKQRFSEAKALGESINEARSKIGHLKEEITQRHIQQVALGISENMAVPLMPDQQEEKLRSQLEEEKRRYKTMFTRLKALKVEIEHLQLLMDKAKVKLQKEFEVWWAEEATNLQVNSPAVNSLDHTKPFLQTSDSQHEWSQLLSNKSSGGWEVQDQGTGRFDVCDVNARKILPSPCPSPHSQKQSSTSTPLEDSIPKRPVSSIPLTGDSQTDSDIIAFIKARQSILQKQCLGSN* 11BR051 ENSG00000188321.13 ENSG00000065989.16 +/+ +/+ chr19:9342029 chr19:10416885 CDS 5'UTR/splice-site deletion 2 0 0 29 6 medium out-of-frame . KRAB_box(100%)|3'5'-cyclic_nucleotide_phosphodiesterase(100%) . . ENSG00000188321.13 ENSG00000065989.16 ENST00000393883.6 ENST00000592685.5 downstream upstream . ^(GTTCGGTGGTGTCCCGGTGCAGCCACGCGAGAGTAGAAGGGTGGAAAGGGGAGGTGCCCAGTGAAATGGAGCCTGTCCCGTGCACTTTCGGGCATTTCGAGCATCTTGTGGGCTCTCCCAAGTCGCGGCCCCTCCTCTGAGAGCCACAGTCAGGTCTGTCCTCAGGGGTCGAGGCGGCTGCGCTGGGGCCTCGGCCCGGGAGGAGGCGGGGGGCACGGCCTTTCCATTTTCCCTGCTCCCCTCTGCAGAAGCCTCATAGGGCCCGGCGCGGCGGCTCACGCCTGTCATTCCCAGCGCTTTGGGCGGATTGGGTAGGAGGATTACTTGAGGCCAGGAGTTCAAGACCAGGCAGGGCAACATAGGGAGACCCCCCCCCCCAACCATCTCTAATGGAAAAAAAAAAAAAAGTCTCCACATCCAGCGTTGTGCCTTTTCTCTATAAGGAACAGCATCTCTGCCTTCCTGTTCACGGTGACCTTCGCTTGGTGTCCTCCTGGCCTCAGCAACCTGACAATTCTGTCGTGTCCCG___AGAGATGGCTAATGAATGGCGCTTGATGACAGATGAGTAATGCCTGTTGCTGAAAGATTGACG___ATCATCTTTCTCAAGATGTTTTCTGTCTTCATGAGTCAAAATTTGAAGAGGAAAGGATGGTGGCTGGGTGGTTGACAAATTACTCTCAG___GACTCAGTGACCTTTGAGGATGTGGCTGTGGACTTCACCCAGGAGGAGTGGACTTTGCTGGATCAAACTCAGAGAAACTTATACAGAGATGTGATGCTGGAGAACTATAAGAATCTAGTTGCAGTAG___ATTGGGAGAGTCATATTAATACCAAATGGTCAGCACCTCAGCAGAATTTTTTGCAGGGGAAAACATCCAGTGTGGTGGAAATG___GAGAGAAACCATTTTGGAGAGGAACTGTTTGACTTTAACCAATGTGAAAAAGCCTTGAGTGAACACTCATGCCTTAAGACTCACAGGAGAACTTACTTTAGAAAGAAAACCTGTGA)GTGTAATCAATGTGAAAAAGCCTTCAGAAAACCCTCTATCTTTACTTTACACAAGAAAACTGATATCGGAGAGGAACTTCCTAACTGTAATCAATGTGAAACAGCCTTCAGCCAgCcTCTACATCTTGTTTGCAAGAAAACTAGCCAAAATCTACATCTTGTTTGCAAGAAAACTCACACTCAAGAGAAACCATATAAATGCAGTGACTGTGAAAAAGG|AGGCCCTGGCCCTGCCGACATGGCCACCGCAGTCCCAACGGCGCGCTAGGTTGGCGAGATGAAGAG(GAGTCGCAGTGCCCTGTCCGTGGCAGGGACCGGGGACGAG___AGGTCGAGGGAGACCCCCGAATCCGACCGTGCCAACATGCTGGGGGCCGACCTGCGTCGCCCTCGCCGCCGCCTCTCGTCCGGTCCTGGCCTGGGCTGGGCCCAGCCTGAGCCCTCGGACCCTGGGGTCCCTCTGCCGCCACGGCCCACCACCCTGCCGCTGCTGATCCCACCGCGGATTTCCATCACCAGGGCCGAGAACGACAG___CTTCGAGGCAGAGAATGGGCCGACACCATCTCCTGGCCGCAGCCCCCTGGACTCGCAGGCGAGCCCAGGACTCGTGCTGCACGCCGGGGCGGCCACCAGCCAGCGCCGGGAGTCCTTCCTGTACCGCTCAGACAGCGACTATGACATGTCACCCAAGACCATGTCCCGGAACTCATCGGTCACCAGCGAGGC___GCACGCTGAAGACCTCATCGTAACACCATTTGCTCAG___GTGCTGGCCAGCCTCCGGAGCGTCCGTAGCAACTTCTCACTCCTGACCAATGTGCCCGTTCCCAGTAACAA___GCGGTCCCCGCTGGGCGGCCCCACCCCTGTCTGCAAGGCCACGCTGTCAG___AAGAAACGTGTCAGCAGTTGGCCCGGGAGACTCTGGAGGAGCTGGACTGGTGTCTGGAGCAGCTGGAGACCATGCAGACCTATCGCTCTGTCAGCGAGATGGCCTCGCACAAG___TTCAAAAGGATGTTGAACCGTGAGCTCACACACCTGTCAGAAATGAGCAGGTCCGGAAACCAGGTCTCAGAGTACATTTCCACAACATTCCTGG___ACAAACAGAATGAAGTGGAGATCCCATCACCCACGATGAAGGAACGAGAAAAACAGCAAGCGCCGCGACCAAGACCCTCCCAGCCGCCCCCGCCCCCTGTACCACACTTACAGCCCATGTCCCAAATCACAGGGTTGAAAAAGTTGATGCATAGTAACAGCCTGAACAACTCTAACATTCCCCGATTTGGGGTGAAGACCGATCAAGAAGAGCTCCTGGCCCAA___GAACTGGAGAACCTGAACAAGTGGGGCCTGAACATCTTTTGCGTGTCGGATTACGCTGGAGGCCGCTCACTCACCTGCATCATGTACATGATATTCCAG___GAGCGGGACCTGCTGAAGAAATTCCGCATCCCTGTGGACACGATGGTGACATACATGCTGACGCTGGAGGATCACTACCACGCTGACGTGGCCTACCATAACAGCCTGCACGCAGCTGACGTGCTGCAGTCCACCCACGTACTGCTGGCCACGCCTGCACTAGAT___GCAGTGTTCACGGACCTGGAGATTCTCGCCGCCCTCTTCGCGGCTGCCATCCACGATGTGGATCACCCTGGGGTCTCCAACCAGTTCCTCATCAACACCA___ATTCGGAGCTGGCGCTCATGTACAACGATGAGTCGGTGCTCGAGAATCACCACCTGGCCGTGGGCTTCAAGCTGCTGCAGGAGGACAACTGCGACATCTTCCAGAACCTCAGCAAGCGCCAGCGGCAGAGCCTACGCAAGATGGTCATCGACATG___GTGCTGGCCACGGACATGTCCAAGCACATGACCCTCCTGGCTGACCTGAAGACCATGGTGGAGACCAAGAAAGTGACCAGCTCAGGGGTCCTCCTGCTAGATAACTACTCCGACCGCATCCAG___GTCCTCCGGAACATGGTGCACTGTGCCGACCTCAGCAACCCCACCAAGCCGCTGGAGCTGTACCGCCAGTGGACAGACCGCATCATGGCCGAGTTCTTCCAGCAGGGTGACCGAGAGCGCGAGCGTGGCATGGAAATCAGCCCCATGTGTGACAAGCACACTGCCTCCGTGGAGAAGTCTCAG___GTGGGTTTTATTGACTACATTGTGCACCCATTGTGGGAGACCTGGGCGGACCTTGTCCACCCAGATGCCCAGGAGATCTTGGACACTTTGGAGGACAACCGGGACTGGTACTACAGCGCCATCCGGCAGAGCCCATCTCCGCCACCCGAGGAGGAGTCAAGGGGGCCAGGCCACCCACCCCTGCCTGACAAGTTCCAGTTTGAGCTGACGCTGGAGGAGGAAGAGGAGGAAGAAATATCAATGGCCCAGATACCGTGCACAGCCCAAGAGGCATTGACTGCGCAGGGATTGTCAGGAGTCGAGGAAGCTCTGGATGCAACCATAGCCTGGGAGGCATCCCCGGCCCAGGAGTCGTTGGAAGTTATGGCACAGGAAGCATCCCTGGAGGCCGAGCTGGAGGCAGTGTATTTGACACAGCAGGCACAGTCCACAGGCAGTGCACCTGTGGCTCCGGATGAGTTCTCGTCCCGGGAGGAATTCGTGGTTGCTGTAAGCCACAGCAGCCCCTCTGCCCTGGCTCTTCAAAGCCCCCTTCTCCCTGCTTGGAGGACCCTGTCTGTTTCAGAGCATGCCCCGGGCCTCCCGGGCCTCCCCTCCACGGCGGCCGAGGTGGAGGCCCAACGAGAGCACCAGGCTGCCAAGAGGGCTTGCAGTGCCTGCGCAGGGACATTTGGGGAGGACACATCCGCACTCCCAGCTCCTGGTGGCGGGGGGTCAGGTGGAGACCCTACCTGATCCCCAGACCTCTGTCCCTGTTCCCCTC)$ MVAGWLTNYSQDSVTFEDVAVDFTQEEWTLLDQTQRNLYRDVMLENYKNLVAVDWESHINTKWSAPQQNFLQGKTSSVVEMERNHFGEELFDFNQCEKALSEHSCLKTHRRTYFRKKTCECNQCEKAFRKPSIFTLHKKTDIGEELPNCNQCETAFSQpLHLVCKKTSQNLHLVCKKTHTQEKPYKCSDCEKg|gpgpadmatavptar* 11BR053 ENSG00000287448.1 ENSG00000047578.13 +/+ +/+ chr16:35517144 chr16:27698328 exon/splice-site CDS/splice-site duplication 2 51 1 4350 130 high . . |Domain_of_unknown_function_(DUF4457)(100%) . . ENSG00000287448.1 ENSG00000047578.13 ENST00000656703.1 ENST00000261588.9 downstream upstream duplicates(4) ^(GTACAGATCTGGGGTCCTGAAGCGTCCAGGCGAAGGTGCTGGGAGTCAGGGAGGAAAGTCCTTTGAAGCCTCCAGAAGCAATGTAACAAGACCCAGCACTGCAGGAAGAAGTGGGGCACCCAGTGGCAAATGCAGGCCTACGTGCAAGGTGCTCCCTGTCCCTCGCCTGCTCCCTGGAACCTGGAGCCGCACCTAGGATGGGGGGTCTCCATTCCAGACCCAGAATAAGCTCTTGGCTACCTCACCCAGCACCTGGTCATGCCAGACAGAATCTTGGCTGGGGCTTTCTCATGGTCTGCAGTGCCTTCCACTTTGGGCCACCGTAATAACACTTCTCCCACAGGGACTCTGCAGTGTCCGGCTCACCAGCCTGGAGTTTCTCATCACCCAGTGATTCCAAAAGAAACAATCTACAATGGCATGACCAAGTGCCAGAAACAAACAAACAAAATATCTGAG___GAGCTGTCAGAATCCTGCCCTTCCGTCTCCAGATCAAAGTCCTTCAGGAAATGCAACTACTTCAGTGACAAGAGATAATTATCATCTTCTGACAGAGGAGGAATTTGGGGTTTGGTCCCAGTCCATGAAGTGGCACAGTCAGAATAAAAG___)TCCTGAACTGACAGCCACAAGTGGCACCTGAACAGGGACTTGAACAAAGAAGGTCTGCTGGAGCAGAAAAAGTGAAACTGACCAGATGAATGAGAAACCCTGGGATGAGTCTGCCTGCAGAGGATATAAG|GACCTGGAAGCCGGCGAGAGAGACCCCTGTCTGCAACCCGCAAAACTCTTTGCGAGGCTGAGTACCCAGAGGAAGATGCCTCTGCTGTGCTCCAAGCCATCCAGGTGGAGAACGCAGCCCTGCAGAGGGCGCTCCTCAGCAGAAAGGCCGAGCAGCCAGCCAGCCCACTGCAG___GATGCAGAAGGACCACCAGCAAAACCATGGACCAGTCTGCTGGAGGAGAAGGAAGAGACCCTTGAG___CTGCTTCCCATCACCACGGCGACTACTACTCAGGAGCCGGCCGGGGCAGCAGGAGGAGCCAGGGCCATCAACCAGGCCATGGACAGAATTGGGCTTCTGGGAAGCAG___ACAACAGCAGAAGCTTCTGAAAGTCCTCCAGGCCGTCGAAAGTGACTCTGCCCATCTCGGCAGGGTGGTTTCACCAACCAAGGAGCAAGTATCAGACACAGAG___GACAAACAGAGAATGAGGGCAGACGAGATCAAAGATGCCATCTACGTGACC(ATGGAGATCCTGTCCAACTGGGGCAACTCGTGGTGGGTGGGTCTCACAGAAGTCGAGTTCTTTGACTTGAATGACACAAAGCTTTATGTGTCGCCCCACGATGTGGATATCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTCAACAGGAACTTAGCT___GGCAAGAAAGACTCCTCCCCGTGGACCTGCCCCTTCCACCCACCACTCCAGCTGTTTTTTGTTATTCGAAACACAAGACAGCTGGGGGACTTCCATCTGGCCAAGATCAAGGTTCGGAATTACTGGACAGCTGATGGC___GATCTTGACATTGGTGCCAAGAACGTGAAGCTTTACGTCAACAGAAACCTCATCTTCAATGGCAAGTTAGACAAAGGAGATAGGGAGGCCCCAGCTGACCACAGCATCCTGGTTGACCAGAAGAACGAGAAGAGCGAGCAACTAGAGGAGGCCATGAACGCTCACTCGGAAGAAAGCAAAGGCACCCATGAGATGGCTGGTGCCAGCGGGGACAAGGAGCTTGGTCTCGGTTGCTCACCGCCAGCTGAAACATTAGCGGATGCAAAGCTTTCTTCACAAGGAAATGTGTCTGGCAAAAGAAAGAATTCTACTAATTGCAGGAAAGACAGTTTGTCCCAGTTAGAGGAATATTTGAGACTGTCGGCAGTCCCCACTTCGATGGGTGACATGCCCAGTGCTCCTGCCACTTCCCCACCTGTGAAGTGCCCTCCTGTCCATGAGGAGCCCTCTCTCATCCAACAACTGGAAAACCTCATGGGCAGAAAAATCTGTGAGCCACCCGGGAAAACCCCATCCTGGTTACAACCTTCTCCCACCGGCAAGGACAGGAAGCAGGGAGGCAGGAAGCCAAAACCCCTCTGGCTTAGTCCCGAGAAGCCCCTGGCCTGGAAGGGCAGGCTCCCATCAGACGATGTCATCGGTGAGGGTCCTGGAGAGACCGAGGCCAGGGATAAAGGCCTACGGCATGAGCCAGGGTGGGGGACCAGCCGGAGTGTCAACACCAAGGAGAGACCCCAGAGGGCAACCACCAAAGTCCACAGTGATGACTCAGACATCTTTAACCAGCCCCCCAACAGAGAGCGCCCTGCTAGTGGGAGGAGGGGCTCAAGGAAGGATGCTGGCAGCAGTAGTCATGGGGACGACCAGCCAGCCAGCAGAG___AAGACACCTGGTCTTCCAGGACGCCGTCACGGTCAAGGTGGCGCAGTGAGCAGGAGCACACACTTCACGAGTCATGGAGCTCCCTCAGTGCCTTCGACCGCTCCCACCGGGGACGCATCTCCAACACGGAGCTCCCGGGGGACATCCTGGATGAGCTCCTGCAGCAAAAGAGCAGCCGGCACAGCGACTTGCCCCCCTCCAAGAAGGGGGAGCAGCCAGGGCTGTCGAGAGGGCAGGATGGCTACTCTGGAGAGACAGACGCTGGGGGTGACTTTAAAATCCCCGTCTTGCCTTATGGACAGCGCTTGGTCATTGACATCAAGTCTACCTGGGGGGACAGACACTATGTCGGCCTCAACGGAATAGAAATATTCAGTTCCAAGGGTGAACCGGTGCAGATTTCAAACATAAAAGCAGACCCTCCCGATATCAATATTTTACCAGCCTATGGGAAAGACCCCCGCGTGGTCACCAACCTCATCGACGGGGTGAACAGGACCCAGGATGACATGCATGTCTGGCTGGCCCCCTTCACGCGGGGCAGATCCCACTCCATCACCATTGACTTCACGCACCCTTGCCACGTTGCCCTGATCAGAATTTGGAACTACAATAAATCTCGGATACATTCCTTCCGAGGCGTGAAGGACATCACAATGCTGTTAGACACCCAGTGCATCTTTGAAGGAGAAATCGCCAAGGCCTCTGGAACCCTGGCGGGAG___CCCCAGAGCACTTTGGAGACACGATCTTATTCACAACCGATGATGACATTCTCGAGGCCATATTCTATTCTGATGAGATGTTTGACCTGGATGTGGGGAGCCTGGACAGCCTGCAGGATGAAGAGGCAATGAGGAGGCCCAGCACGGCCGACGGCGAGGGGGATGAGCGGCCCTTCACCCAGGCTGGCTTGGGGGCTGATGAACGG___ATCCCGGAGCTAGAGCTCCCATCCAGTTCCCCTGTCCCCCAAGTCACCACGCCAGAGCCAGGCATCTACCACGGAATCT___GCCTTCAGCTGAATTTCACTGCCTCCTGGGGAGACTTGCACTACCTGGGGCTCACTGGCCTGGAAGTGGTGGGCAAGGAGGGCCAGGCGCTGCCCATCCACCTGCACCAGATCTCTGCTTCCCCCAGAGACTTAAATGAGCTCCCCGAGTACTCTGACGACTCCCGGGCCCTGGACAA___GTTAATTGATGGCACCAACATCACCATGGAGGATGAGCATATGTGGCTGATCCCCTTCTCGCCGGGGCTGGACCATGTGGTCACGATCCGCCTGGACAGGGCCGAAAGCATCGCAGGCCTGCGCTTCTGGAACTACAATAAATCTCCCGAGGACACCTATCGCGGG___GCCAAGATTGTCCACGTCTCCCTGGATGGCCTGTGCGTCTCCCCGCCAGAGGGCTTTCTCATCCGGAAGGGGCCAGGCAACTGCCACTTTGATTTTGCTCAAGAAATCCTCTTCGTGGACTACCTACGGGCTCAGCTGCTGCCCCAGCCGGCCAGGAG___GCTGGACATGAGAAGCCTGGAGTGTGCAAGCATGGACTACGAGGCACCGCTGATGCCCTGTGGCT___TCATTTTCCAGTTTCAGCTTCTCACCAGCTGGGGCGACCCCTACTACATCGGCCTCACCGGCCTGGAGCTGTATGACGAGCGAGGAGAAAAAATCCCCTTGTCGGAAAACA___ATATTGCGGCCTTCCCCGACAGCGTGAACTCCCTGGAGGGTGTGGGCGGGGACGTCCGCACCCCAGACAAGCTCATCGACCAAGTGAACGACACCAGTGATGGCCGGCACATGTGGCTGGCTCCCATCCTGCCGGGCCTG___GTGAACCGGGTTTATGTGATTTTCGATCTGCCTACCACCGTGTCAATGATCAAACTGTGGAATTATGCGAAAACACCCCATCGAGGGGTGAAGGAGTTTGGC___CTCCTGGTGGACGACCTGCTTGTGTACAATGGGATCCTGGCCATGGTGAGCCACCTGGTGGGGGGCATCCTGCCCACATGTGAGCCCACCGTGCCCTACCACACCATCCTCTTCACCGAGGACAGGGACATCCGCCACCAGGAGAAACACACCACCATCAG___TAATCAGGCCGAGGATCAAGATGTCCAGATGATGAATGAAAACCAAATCATTACCAACGCGAAACGGAAGCAGAGCGTTGTTGACCCAG___CCTTACGTCCCAAAACCTGCATCAGCGAGAAGGAGACGAGACGACGGCGCTGCTGACTGGTGAAGGAGGGAGAGCTGGTCCTCCCACTATGGTGGGCTCCGTCAGCAGCCCCACTCAGTGCCTGCGTCCCTCACCCTCAGTCCCAGGAGCTGGAAGCGAACCACAGTGTTGAGGGGAGCCCGCTGGGAAGAGGGGACTCGGGAGGACAGCCCTGGATACTACCAGAGTGACAGATGGCTGTGGCTGCAGGGCAAAGAGATCCCCTGCAGTTCTGGGTTGGCCACAGGGAGCCCAGGACACCCGCCTTCATGCCTCTGCTGTGAGACCCAGCAAAGCAGGGCCCATGACCACTAGGGCCTGGGCTGACCCTGACTCAGAACAGGACAATGACGGGGTGGGGAGGCATCCCATCCAGCCTCAGAGGGCCCAGAGAATGGCTGAGCAGGACAGTGGGAGACCAGACCCTACCCCGCAACTCCAGTAAGCAGGGCACTGCCCAGGGAGACTGCCTTCAGAAACCTGAGCTTCAGCGGCCAACACCCCCCATCCCCTGCGCATCCTTGTCTCATTTGGGGACTGGTGGAGCTGGCTGAGAGGTTGGGGTAGTTTCCTGGTTACAGGGGTCCACAAGACCCTCTCTCATCCCGGTATAGGGGCCTCTCTCCTCTCATCGGGCCTGATAAGGGATTGGCCAAGGCTGTGTGCATCCTGCAGAGGGAAGGAAGTCAGCTGGGCCACCCGCCATCCACCTTGGCAAGAGCTGGGCCCACTCTGGCAGGCCAGGGTATCATCTGCGTGCTGCTGCCGGGCCAGGAAGGGTGGGTGGGTGGCCAGCAGGCTGGCAGCTCCAGACCCCAGAGGGCCAGAAGAACTCACCCCAGTGCCCTCTGGATGCAGGTGTTGGGGAACACTGAGGACAATCCCCCATCTCCCCTCACCCTTGAGCAGGCCCTCCCTGCACTCTCTGCCACATGTCCCTCCTGGTCTGATCACGGCTGTGCTCACTGATGTGGCTGCTTTCTGTCTCTGCCCCTGTGCCCTTGGAGGCAGGCAGTGAGGTGCTCCTTTCCCAGGCCCCCACCCCTTCTCCCCCTTCAGCCACTTCCCAGCGAGTTGGAAATGTGCCTTGCACCCCCAGCCGAGTGAAGCCCAGAACGCATCTATATGCATCGATGTAACAAGCTCGGATCAGGGACCTAATTGGTTTCCCAGTAGTGGGTAATTTCTCGTTGCAAATATTAATCCGTTGTTTTTCTGGCGCCCAGCCCGGCCCGCCGCAGTACTGTACTCGAGGTACGTTCCTATGCAACCGAGAGCCCCGGCAAATACTTCATGAGCTTAGCAGCCTGGGCTCGAGCAGCTATGCAAACGCGCTTTTCATTTGGAGCACGGGGCTGATGTGAAGATAAGAATTGTTTCTCCTGGAGAAAGATCCATCATTTCTCCAGCTTCCAAGCCCCCGGCACCTCTGCTCAGCTCCCAGATGTGACGAGCACCTCCCGCCAGGGGGAGTCAGGGGTTGATCAAACCAGCTCTTGTGACCCAAACCAGTGCCGCTGCATTAAAGGGAGGCCCAGCTACTCCTTCCCAGCTGAGATGTGGGTACAGGTCAGATTTGTCAGGGAGATGGCACTAACACGACACAAGCTCACTCCCAGAACCGCAGCTGATGTTTATAATAATCGTATGTACTGTGCAATTTAGGAGGGGAAAAAAAGGCTGTACAAGCTTTAACTCTAAAATAAATTTCTATTTTTTTCCTCTTGCAAAATTAATAAAAGATGTTATTAAGAATA)$ . 11BR053 ENSG00000196576.15 ENSG00000054611.14 -/- +/- chr22:50277853 chr22:47155883 CDS/splice-site intron deletion/5'-5' 18 13 1 133 32 high out-of-frame . IPT/TIG_domain(100%),Plexin_cytoplasmic_RasGAP_domain(100%),Plexin_repeat(100%),Sema_domain(100%)| . . ENSG00000196576.15 ENSG00000054611.14 ENST00000359337.9 . upstream downstream duplicates(2) ^(ACACAAAGGCCCCGTCTCCATGGCAGCAGCGCGGGCCAGAGCGCAGCGCCGAGCGCGGCCCGGGCGCCATCGAGCCTTGGCGGCGGACGTGCAG___AGAATCTCGATGCTGGCCTGGAGCAGAAACTGAGCTGGACCACTGGAGCCTCGGTGAGGG___GGTGCGGGGGGCAATGGCACTGCAGCTCTGGGCCCTGACCCTGCTGGGCCTGCTGGGCGCAGGTGCCAGCCTGAGGCCCCGCAAGCTGGACTTCTTCCGCAGCGAGAAAGAGCTGAACCACCTGGCTGTGGATGAGGCCTCAGGCGTGGTGTACCTGGGGGCGGTGAATGCCCTCTACCAGCTGGATGCGAAGCTGCAGCTGGAGCAGCAGGTGGCCACGGGCCCGGCCCTGGACAACAAGAAGTGCACGCCGCCCATCGAGGCCAGCCAGTGCCATGAGGCTGAGATGACTGACAATGTCAACCAGCTGCTGCTGCTCGACCCTCCCAGGAAGCGCCTGGTGGAGTGCGGCAGCCTCTTCAAGGGCATCTGCGCTCTGCGCGCCCTGAGCAACATCTCCCTCCGCCTGTTCTACGAGGACGGCAGCGGGGAGAAGTCTTTCGTGGCCAGCAATGATGAGGGCGTGGCCACAGTGGGGCTGGTGAGCTCCACGGGTCCTGGTGGTGACCGCGTGCTGTTTGTGGGCAAAGGCAATGGGCCACACGACAACGGCATCATCGTGAGCACTCGGCTGTTGGACCGGACTGACAGCAGGGAGGCCTTTGAAGCCTACACGGACCACGCCACCTACAAGGCCGGCTACCTGTCCACCAACACACAGCAGTTCGTGGCGGCCTTCGAGGACGGCCCCTACGTCTTCTTTGTCTTCAACCAGCAGGACAAGCACCCGGCCCGGAACCGCACGCTGCTGGCACGCATGTGCAGAGAAGACCCCAACTACTACTCCTACCTGGAGATGGACCTGCAGTGCCGGGACCCCGACATCCACGCCGCTGCCTTTGGCACCTGCCTGGCCGCCTCCGTGGCTGCGCCTGGCTCTGGCAGGGTGCTATATGCTGTCTTCAGCAGAGACAGCCGGAGCAGTGGGGGGCCCGGTGCGGGCCTCTGCCTGTTCCCGCTGGACAAGGTGCACGCCAAGATGGAGGCCAACCGCAACGCCTGTTACACAGGCACCCGGGAGGCCCGTGACATCTTCTACAAGCCCTTCCACGGCGATATCCAGTGCGGCGGCCACGCGCCG___GGCTCCAGCAAGAGCTTCCCATGTGGCTCGGAGCACCTGCCCTACCCGCTGGGCAGCCGCGACGGGCTCAGAGGCACAGCCGTGCTGCAGCGTGGAGGCCTGAACCTCACGGCCGTGACGGTCGCCGCCGAGAACAACCACACTGTTGCTTTTCTGGGCACCTCTGATGGCCGGATCCTCAAG___GTGTACCTCACCCCAGATGGCACCTCCTCAGAGTACGACTCTATCCTTGTGGAGATAAACAAGAGAGTCAAGCGCGACCTGGTACTGTCTGGAGACCTGGGCAGCCTGTACGCCATGACCCAGGACAAG___GTGTTCCGGCTGCCGGTGCAGGAGTGCCTGAGCTACCCGACCTGCACCCAGTGCCGCGACTCCCAGGACCCCTACTGCGGCTGGTGCGTCGTCGAGGGACG___ATGCACCCGGAAGGCCGAGTGTCCGCGGGCCGAGGAGGCCAGCCACTGGCTGTGGAGCCGAAGCAAGTCCTGCGTGGCCGTCACCAGCGCCCAGCCACAGAACATGAGCCGGCGGGCCCAGGGGGAG___GTGCAGCTGACCGTCAGCCCCCTCCCTGCCCTGAGCGAGGAGGACGAGTTGCTGTGCCTTTTTGGGGAGTCGCCGCCACACCCCGCCCGCGTGGAGGGCGAGGCCGTCATCTGCAACTCCCCAAGCAGCATCCCCGTCACACCGCCAGGCCAGG___ACCACGTGGCCGTGACCATCCAGCTCCTCCTTAGACGAGGCAACATCTTCCTCACGTCCTACCAGTACCCCTTCTACGACTGCCGCCAGGCCATGAGCCTGGAGGAGAACCTGCC___GTGCATCTCCTGCGTGAGCAACCGCTGGACCTGCCAGTGGGACCTGCGCTACCACGAGTGCCGGGAGGCTTCGCCCAACCCTGAGGACGGCATCGTCCGTGCCCACATG___GAGGACAGCTGTCCCCAGTTCCTGGGACCCAGCCCCCTGGTGATCCCCATGAACCACGAGACAGATGTGAACTTCCAGGGCAAGAACCTGGACACCGTGAAG___GGTTCCTCCCTGCACGTGGGCAGTGACTTGCTCAAGTTCATGGAGCCGGTGACCATGCAGGAATCTGGGACCTTCGCCTTTCGGACCCCAAAG___CTGTCCCACGATGCCAACGAGACGCTGCCCCTGCACCTCTACGTCAAGTCTTACGGCAAGAATATCGACAGCAAGCTCCATG___TGACCCTCTACAACTGCTCCTTTGGCCGCAGCGACTGCAGCCTGTGCCGGGCCGCTAACCCCGACTACAGGTGTGCGTGGTGCGGGGGCCAGAGCAGGTGCGTGTATGAGGCCCTGTGCAACACCACCTCCGAGTGCCCGCCGCCCGTCATCACCAGG___ATCCAGCCTGAGACGGGCCCCCTGGGTGGGGGCATCCGCATCACCATCCTGGGGTCCAATTTGGGCGTCCAAGCAGGGGACATCCAGAGGATCTCTGTGGCCGGCCGGAACTGCTCCTTTCAGCCGGAACGTTACTCCGTGTCCACCCG___GATCGTGTGTGTGATCGAGGCTGCGGAGACGCCTTTCACGGGGGGTGTCGAGGTGGACGTCTTCGGGAAACTGGGCCGTTCGCCTCCCAATGTCCAGTTCACCTTCCAA___CAGCCCAAGCCTCTCAGTGTGGAGCCGCAGCAGGGACCGCAGGCGGGCGGCACCACACTGACCATCCACGGCACCCACCTGGACACGGGCTCCCAGGAGGACGTGCGGGTGACCCTCAACGGCGTCCCGTGTAAAGT___GACGAAGTTTGGGGCGCAGCTCCAGTGTGTCACTGGCCCCCAGGCGACACGGGGCCAGATGCTTCTGGAGGTCTCCTACGGGGGGTCCCCCGTGCCCAACCCCGGCATCTTCTTCACCTACCGCGAAAACCCCGTACTGCGAGCCTTCGAGCCGCTACGAAGCTTTGCCAG___TGGTGGCCGCAGCATCAACGTCACGGGTCAGGGCTTCAGCCTGATCCAGAGGTTTGCCATGGTGGTCATCGCGGAGCCCCTGCAGTCCTGGCAGCCGCCGCGGGAGGCTGAATCCCTGCAGCCCATGACG___GTGGTGGGTACAGACTACGTGTTCCACAATGACACCAAGGTCGTCTTCCTGTCCCCGGCTGTGCCTGAGGAGCCAGAGGCCTACAACCTCACGGTGCTGATCGAGATGGACGGGCACCGTGCCCTGCTCAGAACAGAGGCCGGGGCCTTCGAGTACGTGCCTGACCCCACCTTTGAGAACTTCACAGGTGGCGTCAAGAAGCAGGTCAACAAGCTCATCCACGCCCGG___GGCACCAATCTGAACAAGGCGATGACGCTGCAGGAGGCCGAGGCCTTCGTGGGTGCCGAGCGCTGCACCATGAAGACGCTGACGGAGACCGACCTGTACTGTGAGCCCCCGGAGGTGCAGCCCCCGCCCAAGCGGCGGCAGAAACGAGACACCACACACAACCTGCCCGAGTTCATT___GTGAAGTTCGGCTCTCGCGAGTGGGTGCTGGGCCGCGTGGAGTACGACACACGGGTGAGCGACGTGCCGCTCAGCCTCATCTTGCCGCTGGTCATCGTGCCCATGGTGGTCGTCATCGCGGTGTCTGTCTACTGCTACTG___GAGGAAGAGCCAGCAGGCCGAACGAGAGTATGAGAAGATCAAGTCCCAGCTGGAGGGCCTGGAGGAGAGCGTGCGGGACCGCTGCAAGAAGGAATTCACAG___ACCTGATGATCGAGATGGAGGACCAGACCAACGACGTGCACGAGGCCGGCATCCCCGTGCTGGACTACAAGACCTACACCGACCGCGTCTTCTTCCTGCCCTCCAAGGACGGCGACAAGGACGTGATGATCACCGGCAAGCTGGACATCCCTGAGCCGCGGCGGCCGGTGGTGGAGCAGGCCCTCTACCAGTTCTCCAACCTGCTGAACAGCAAGTCTTTCCTCATCAAT___TTCATCCACACCCTGGAGAACCAGCGGGAGTTCTCGGCCCGCGCCAAGGTCTACTTCGCGTCCCTGCTGACGGTGGCGCTGCACGGGAAACTGGAGTACTACACGGACATCATGCACACGCTCTTCCTGGAGCTCCTGGAGCAGTACGTGGTGGCCAAGAACCCCAAGCTGATGCTGCGCAG___GTCTGAGACTGTGGTGGAGAGGATGCTGTCCAACTGGATGTCCATCTGCCTGTACCAGTACCTCAAG___GACAGTGCCGGGGAGCCCCTGTACAAGCTCTTCAAGGCCATCAAACATCAGGTGGAAAAGGGCCCGGTGGATGCGGTACAGAAGAAGGCCAAGTACACTCTCAACGACACGGGGCTGCTGGGGGATGATGTGGAGTACGCACCCCTG___ACGGTGAGCGTGATCGTGCAGGACGAGGGAGTGGACGCCATCCCGGTGAAGGTCCTCAACTGTGACACCATCTCCCAGGTCAAGGAGAAGATCATTGACCAGGTGTACCGTGGGCAGCCCTGCTCCTGCTGGCCCAGGCCAGACAGCGTGGTCCTGG___AGTGGCGTCCGGGCTCCACAGCGCAGATCCTGTCGGACCTGGACCTGACGTCACAGCGGGAGGGCCGGTGGAAGCGCGTCAACACCCTTATGCACTACAAT___GTCCGGGATGGAGCCACCCTCATCCTGTCCAAGGTGGGGGTCTCCCAGCAGCCGGAGGACAGCCAGCAGGACCTGCCTGGGGAGC___GCCATGCCCTCCTGGAGGAGGAGAACCGGGTGTGGCACCTGGTGCGGCCGACCGACGAGGTGGA)CGAGGGCAAGTCCAAGAGAGGCAGCGTGAAAGAGAAGGAGCGGACGAAGGCCATCACCGAGATCTACCTGACGCGGCTGCTCTCAGTCAAG___GGCACACTGCAGCAGTTTGTGGACAACTTCTTCCAGAGCGTGCTGGCGCCTGGGCACGCGGTGCCACCTGCAGTCAAGTACTTCTTCGACTTCCTGGACGAGCAGGCAGAGAAGCACAACATCCAGGATGAAGACACCATCCACATCTGGAAGACGAACAG|TGCCCTTTTAACTAGGAGATCAAAGAATACAGAATACCACCTGATACACAGAAGACAAGAAGGTAGCTCCGCACAGAAAG___GCACACGGCTGAGACTTCTGATCAACACACAGAGGACACTGCAAATCCTGGCGCAGCCCTTCGTCTTTTTCAGCCCGTGAAGACTTCCTGCCTTGCGGTGTTTGGGGCCAAGATGCTGTGGCCACGTCATCCCTGGAGATGCCGCTCAAGAAATGCCCAGCGGGCAGCAGGGAAGGACGCCC...AGAGGACAAGGCCAGGTCTGCCAGGCTGCTTCTGCTCCTAAAGCAGAAATCACCAGGAGGGGGCCGCTGAGAGTGGGGAGGGGAAGAGCAGCCGTGTGGGCTGTGTTTCTGGCATCCCGGACCTTGGGCACATGTCCCAGAGCAGCCGCC MALQLWALTLLGLLGAGASLRPRKLDFFRSEKELNHLAVDEASGVVYLGAVNALYQLDAKLQLEQQVATGPALDNKKCTPPIEASQCHEAEMTDNVNQLLLLDPPRKRLVECGSLFKGICALRALSNISLRLFYEDGSGEKSFVASNDEGVATVGLVSSTGPGGDRVLFVGKGNGPHDNGIIVSTRLLDRTDSREAFEAYTDHATYKAGYLSTNTQQFVAAFEDGPYVFFVFNQQDKHPARNRTLLARMCREDPNYYSYLEMDLQCRDPDIHAAAFGTCLAASVAAPGSGRVLYAVFSRDSRSSGGPGAGLCLFPLDKVHAKMEANRNACYTGTREARDIFYKPFHGDIQCGGHAPGSSKSFPCGSEHLPYPLGSRDGLRGTAVLQRGGLNLTAVTVAAENNHTVAFLGTSDGRILKVYLTPDGTSSEYDSILVEINKRVKRDLVLSGDLGSLYAMTQDKVFRLPVQECLSYPTCTQCRDSQDPYCGWCVVEGRCTRKAECPRAEEASHWLWSRSKSCVAVTSAQPQNMSRRAQGEVQLTVSPLPALSEEDELLCLFGESPPHPARVEGEAVICNSPSSIPVTPPGQDHVAVTIQLLLRRGNIFLTSYQYPFYDCRQAMSLEENLPCISCVSNRWTCQWDLRYHECREASPNPEDGIVRAHMEDSCPQFLGPSPLVIPMNHETDVNFQGKNLDTVKGSSLHVGSDLLKFMEPVTMQESGTFAFRTPKLSHDANETLPLHLYVKSYGKNIDSKLHVTLYNCSFGRSDCSLCRAANPDYRCAWCGGQSRCVYEALCNTTSECPPPVITRIQPETGPLGGGIRITILGSNLGVQAGDIQRISVAGRNCSFQPERYSVSTRIVCVIEAAETPFTGGVEVDVFGKLGRSPPNVQFTFQQPKPLSVEPQQGPQAGGTTLTIHGTHLDTGSQEDVRVTLNGVPCKVTKFGAQLQCVTGPQATRGQMLLEVSYGGSPVPNPGIFFTYRENPVLRAFEPLRSFASGGRSINVTGQGFSLIQRFAMVVIAEPLQSWQPPREAESLQPMTVVGTDYVFHNDTKVVFLSPAVPEEPEAYNLTVLIEMDGHRALLRTEAGAFEYVPDPTFENFTGGVKKQVNKLIHARGTNLNKAMTLQEAEAFVGAERCTMKTLTETDLYCEPPEVQPPPKRRQKRDTTHNLPEFIVKFGSREWVLGRVEYDTRVSDVPLSLILPLVIVPMVVVIAVSVYCYWRKSQQAEREYEKIKSQLEGLEESVRDRCKKEFTDLMIEMEDQTNDVHEAGIPVLDYKTYTDRVFFLPSKDGDKDVMITGKLDIPEPRRPVVEQALYQFSNLLNSKSFLINFIHTLENQREFSARAKVYFASLLTVALHGKLEYYTDIMHTLFLELLEQYVVAKNPKLMLRRSETVVERMLSNWMSICLYQYLKDSAGEPLYKLFKAIKHQVEKGPVDAVQKKAKYTLNDTGLLGDDVEYAPLTVSVIVQDEGVDAIPVKVLNCDTISQVKEKIIDQVYRGQPCSCWPRPDSVVLEWRPGSTAQILSDLDLTSQREGRWKRVNTLMHYNVRDGATLILSKVGVSQQPEDSQQDLPGERHALLEEENRVWHLVRPTDEVDEGKSKRGSVKEKERTKAITEIYLTRLLSVKGTLQQFVDNFFQSVLAPGHAVPPAVKYFFDFLDEQAEKHNIQDEDTIHIWKTNs|alltrrsknteyhlihrrqegssaqkgtrlrllintqrtlqilaqpfvffsp* 11BR053 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 13 2 35 34 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(3),low_entropy(1),mismappers(1),mismatches(1),multimappers(1) CTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR053 ENSG00000140848.17 ENSG00000254254.6 +/+ +/- chr16:57113467 chr8:56496333 CDS/splice-site exon translocation/5'-5' 11 5 0 43 8 high out-of-frame . C2_domain(100%)| . . ENSG00000140848.17 ENSG00000254254.6 ENST00000290776.13 . downstream downstream . ^(GCCCGCCCGCCCGGCCCGGGAGGAGGACCGGACCCCGAGCGGCTGGGAGCGCACGCGAGCGGGCCGTGGCCGCGCGGGCAGCGCCCTGAGCCTGTCCCGCGCCCGCGGGCCCGGCCGAGCAGGAGCAGCTCCCGGGGATGCCCGGGCGGCTCGGAGCGCGGGCAGCGGCAGCCGTGCGGTGAGGGCGGTGGCGCCCGCGGGACCTGCG___ACTGCCAGGAACTCCTGCCACCGCCACCGGCTCCCATGGCCCACATACCCAGTGGGGGTGCCCCAGCAGCGGGGGCAGCCCCCATGGGCCCCCAGTATTGCGTGTGCAAGGTGGAGCTGTCAGTGAGTGGCCAGAACCTACTGGACCGGGATGTTACCTCCAAGTCCGACCCCTTCTGTGTCCTCTTTACAGAGAACAATGGCAGATGGATCGAG___TA)CGACAGGACAGAAACCGCGATCAACAACCTCAACCCCGCCTTCTCCAAGAAGTTCGTGCTTGACTACCACTTCGAGGAGGTACAGAAGCTCAAGTTCGCGCTCTTTGACCAGGACAAGTCCAGTATGCGGCTGGACGAGCATGACTTCCTGGGCCAGTTCTCCTGCAGCCTGGGCACG|GTGGCTTCTTCTTGGATATCTGAATGGTGGTGAGATCAACCTCTGGGCCAGCCAAGTATGGAACTCAATCCAAAACAACGGACTTCTTTTGTTTCGTGTCAGTTCAGCTTCCTACAAACAAAATTAAAGCAGCATTGGTTTAGTAATTGG...CATATCAAAGAAAAGAAGCTTAACTCAAAACAGATTTTCCTAACCATCTTCAATGTACATGTGTAGGAGAAATGCATTCTTTATTTGTAGCAGTGCAAATGTCAGTGATTACAAACATGTGTGTGACTGTTTGCCAGCAATTTGTTCTTG MAHIPSGGAPAAGAAPMGPQYCVCKVELSVSGQNLLDRDVTSKSDPFCVLFTENNGRWIEYDRTETAINNLNPAFSKKFVLDYHFEEVQKLKFALFDQDKSSMRLDEHDFLGQFSCSLGT|vasswiseww* 11BR053 ENSG00000131725.14 ENSG00000224314.1(436453),ENSG00000279587.1(58098) +/+ ./+ chrX:118346580 chrX:117836534 CDS/splice-site intergenic duplication 6 7 1 35 13 high out-of-frame . . . . ENSG00000131725.14 . ENST00000371822.9 . downstream upstream . ^(CCCTCCGAAATCTCGCGAGGGTAGGTGCGCGTCGGTATTTTGCGGGCAACTAGCTCTTCCAGCTGCTGTAAATTGCTGCTGCGGGAGAAACTGGAGCCGCTGTAGCCGGCGCGCCCTTCTTCCCTTACTGCGAGGAGCCACCGCCTCTTTCGCGCTCCTTATACACCTATCACTGGGAGCGGTGGCAGCAACATTCCCTGGACCAACCG)CCGCCTCTTCAGGCGGCCGCTTTGCCGGTCATTCCCGAAGCCCGGCAACTGAGGGCGGCCCCCTTTCCTTAACAGTCTCCTCGCTACAGATCGTCTGCTCCCTCAGCCTCGCCCGAGACCCACTTCCCCAGTCTCGCCCGGGTGGAGGTCGACGAGGAGGAGACAAGAGTCACCCTTCCTCCAGGCGGCGCCGGCCCCCTCACCCGCGGGTGTGTCCTATAAATGGCGTCGGAAAGCGACACCGAGGAATTCTATGATGCCCCTGAAGATGTGCACCTAGGGGGCGGCTACCCCGTGGG|GGACTCAGTGGAATTACCACACAAAGCCAAGAACTCCTCTGCTAGAAATCACAGAGGAGACTGGTTATTGCCTGGCTACGAAGAGAAGCTTCACAAAGGCTGATGCCACAGAGGATGG___ATAAGGAAGTTCAACCAGACATTCAAACTTATGAGAG___GTGTTTGGCCTCTTGATGCTCAGAGGAAC MASESDTEEFYDAPEDVHLGGGYPVg|dsvelphkaknssarnhrgdwllpgyeeklhkg* 11BR053 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 4 0 67 38 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAG)AGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR053 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 6 8 0 18 24 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream . CGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACT(ACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11BR053 ENSG00000151692.15 ENSG00000115970.18 +/+ -/+ chr2:6941147 chr2:43511131 5'UTR/splice-site intron deletion/5'-5' 7 6 0 16 17 high . . . . . ENSG00000151692.15 ENSG00000115970.18 ENST00000320892.11 . downstream upstream . ^(CTCTGTGCGCGCTCGCGCCCCGCCCGCGCAGCCGCTTCTCCCCGCGCGGGCTCTCGGCAGGCGGGAGGCGGCAGGGCTGGCATTGCAGTGCGGGCCGTGCGGGCTGCGCGGGCGCGGGGAGGCGCGGGCGG)CAAACTGCGGcCACCCGGCACCCCGCAGCCAGTACCGGGCGGAGGCGTCAGAGCCGCGCACCGCGGACGAGCAGGCCCAG___GCATCCAGTACCCTGCTGACTCTGACATGCCCCCAGCCTCCCCCAGCTCTGCAGGGAGCCCTGGTGCCAGAGACCTTCTCCCATTTCTCCCTATGGGTGCCTGACCTGAGGGCAGAGACATCTGAGTGTGTATAAGCACAGCAGGACACCAGGACCTGGCCTGAAGACATTTCCTCTCCTCCCCTCTGGATTTCTCAGAG|AACCATGGGAAAGTTAAAACCAGCTTATAGATAATGCTACAGTCTAAGGTCGTCTCCTGTAGGGGATTTGCTACGTAGGAAAAACTAAGGGGAAGAACGAACTGCAGGACATGAGAG___AATTTGAAAACAGAGGCCAGAAGAATGCTCTACAAGGTCAAGGCTGGC . 11BR053 ENSG00000236193.3(46806),ENSG00000272519.1(52477) ENSG00000030419.16 ./- -/- chr2:213214518 chr2:213148644 intergenic CDS/splice-site deletion/read-through 5 7 1 31 34 high . . |C2H2-type_zinc_finger(100%),Zinc_finger__C2H2_type(100%) . . . ENSG00000030419.16 . ENST00000342002.6 upstream downstream duplicates(1) ACCATGACTGGAATTCCAGAGACATCCCAGCAGCTGCCAATAATGCTTTTGTCTCAGAGATTCTCCCTTCTTTCTTCCTTCTTCTTGGTATCAGCTGCCTGTAAAGCTTTGCTGGTGCCAGGAAAAGAAGTATTGACAGGCTCCAAGACTG___AGGGTGTCAGAAGCGGGATCTGAAGTGGAGCTTCTAGCGACCCCAGGAGCCCTGAGTGAATATGCAAGGCACCTGCAGGACCCACTGGTGTCCATTGATCTCTCAGAGCGCTGGAGATCGTGG|CATTGCACTTTGACTATGGAAACAGAGGCTATTGATGGCTATATAACGT___GTGACAATGAGCTTTCACCCGAAAGGGAGCACTCCAATATGGCAATTGACCTCACCTCAAGCACACCCAATGGACAGCATGCCTCACCAAGTCACATGACAAGCA___CAAATTCAGTAAAGCTAGAAATGCAGAGTGATGAAGAGTGTGACAGGAAACCCCTGAGCCGTGAAGATGAGATCAGGGGCCATGATGAGGGTAGCAGCCTAGAAGAACCCCTAATTGAGAGCAGCGAGGTG(GCTGACAACAGGAAAGTCCAGGAGCTTCAAGGCGAGGGAGGAATCCGGCTTCCGAATGGTAAACTGAAATGTGACGTCTGTGGCATGGTTTGCATTGGGCCCAATGTGCTTATGGTACATAAAAGGAGTCACACTG___GTGAACGCCCCTTCCACTGTAACCAGTGTGGAGCTTCTTTTACTCAGAAGGGCAACCTTCTGAGACACATAAAGTTACACTCTGGAGAGAAGCCGTTCAAATGTCCTTTCTGTAGCTACGCCTGTAGAAGAAGGGACGCCCTCACAGGACACCTCAGGACCCATTCTG___TGGGTAAACCTCACAAGTGCAACTACTGTGGACGAAGCTACAAGCAGCGCAGTTCACTGGAGGAGCACAAGGAACGCTGCCACAACTATCTCCAGAATGTCAGCATGGAGGCTGCTGGGCAGGTCATGAGTCACCATG___TACCTCCTATGGAAGATTGTAAGGAACAAGAGCCTATTATGGACAACAATATTTCTCTGGTGCCTTTTGAGAGACCTGCTGTCATAGAGAAGCTCACGGGGAATATGGGAAAACGTAAAAGCTCCACTCCACAAAAGTTTGTGG___GGGAAAAGCTCATGCGATTCAGCTACCCAGATATTCACTTTGATATGAACTTAACATATGAGAAGGAGGCTGAGCTGATGCAGTCTCATATGATGGACCAAGCCATCAACAATGCAATCACCTACCTTGGAGCTGAGGCCCTTCACCCTCTGATGCAGCACCCGCCAAGCACAATCGCTGAAGTGGCCCCAGTTATAAGCTCAGCTTATTCTCAGGTCTATCATCCAAATAGGATAGAAAGACCCATTAGCAGGGAAACTGCTGATAGTCATGAAAACAACATGGATGGCCCCATCTCTCTCATCAGACCAAAGAGTCGACCCCAGGAAAGAGAGGCCTCTCCCAGCAATAGCTGCCTGGATTCCACTGACTCAGAAAGCAGCCATGATGACCACCAGTCCTACCAAGGACACCCTGCCTTAAATCCCAAGAGGAAACAAAGCCCAGCTTACATGAAGGAGGATGTCAAAGCTTTGGATACTACCAAGGCTCCTAAGGGCTCTCTGAAGGACATCTACAAGGTCTTCAATGGAGAAGGAGAACAGATTAGGGCCTTCAAGTGTGAGCACTGCCGAGTCCTTTTCCTAGACCATGTCATGTACACCATTCACATGGGTTGCCATGGCTACCGGGACCCACTGGAATGCAACATCTGTGGCTACAGAAGCCAGGACCGTTATGAGTTTTCATCACACATTGTTCGAGGGGAGCACACATTCCACTAGGCCTTTTCATTCCAAAGGGGACCCCTATGAAGTAAAGAACTGCACATGAAGAAATACTGCACTTACAATCCCACCTTTCCTCAAATGTTGACATACCTTTTATTTTTTTTAATATTATTACTGTTGATAATTCTTATTTTGTGGAGGCAGTGTCATTTGCTCTGCCTAATTACGATAAGGAAGAAACAGAAGAGAGAAGGGGCGGGAATATTGTTTCTTTATCACCTGGCTTGTTTATTTTGTGGGAATTTAAGAGCAGTCCATTTCTACCAAGGCATATCATGCTTTGAAAAATCACTTGATTCATAAAGATTCACCTAAGAGATTCTGATTTGCCACTGATATTCAGAATTATGATGGAAGACAGGAAAGTTCAGAGTTTTCTGGGTAGGACTTTGGTGGTTTAAAAATGGTATAAGTAACTTTATTCTTGAAAGAAGAATGTGTTTCAAACTGTAAACCAATTTTTTGTTCTTCAGAGATCATGGAACACAAACACATTGTTATTTTCAGTGATAACTCCTAAGAGGAGCTGAGTTGTTGTGGGTTCTATGTTTACTTCCCCTATGGAATTTATAATTCAGTATGTTTTACACTGTACCATATAGCAAAACTTTTAAACTACAGGTAGTTAAGGGCCACCTACAATACATCTGAGGTCCTGTGATCTTATTTTTCTAAACGTAAGCACTGTTTTTCCATAGTTTTGATGACTGGCATTTTATAGACACCCTGGCAGCCTTACTTTTAACACCTTTAAGGAATAGTATTTTTATGTAGTTTTCAGAATAACATATGGTCTAAGAGTGGATAAAAGGCAGTCAATAATTTCTGGGAGGGACTTCTACTTTCATAAATTTGTTTGAGAGGTTTTCTTTTAAAGTTGTAATGTGATGGCAGCATAGTATATGTATTTGTTTCTAAAAGTATGCTTACGATTGTCACTTTATCAGCATTTAATCAGTGTTAACCAGTCAGCAGAAAAATATAATTATGCTAACAGTAGGGGGAGAAAACCCACTTAGAAATCCCTTTTCTGGTATTTCTCTTTTCACTAGTTTTTTTCAAGATGTGACCTCCCGGTGTTCTGTCCATAGTTCATTCATCCTTTACTCTTCGAGTAGAAGGTCTTAAAAGTCTTCCTGTCGGCTGTTTCTTTCAAAATCTCCTCAGAGCAATTGCTAATTTGGCCTGAATCTGGTAACTTGAACCCTGTAAGGTTACAGAACTAGGGCTATTTATTTTAGCATTTCTTCAGTAGTATTTACTACTCTTGTTGCAAAGAAAAGGGAATGGGACTTCTTTGTAACCTGTACCTTGGACAACAGATAAAAGAAACAAAAAAATAAGAAAGTTTACTTTTACCCTTCTTGGAGTCTAGAATGTGACAGAACCCCCAAAGGAAAGTCCTGCACATTTTTCTGTTTCCAAAACATTTAATTGTGTAAGTCCTTGTCAGAAATGAATCTCAATCCCTTAGTATAGAATTCCCCTTACATGGTATAGGTTGCCATATTTCATGTGCAGATTTTAATTTCATTTATGTGGGCGCTCTGTTTTTTCTTTGCAGTCCAGCCACATTAGAGGGGAGGAACCGAGTGATATTGATTCAAGTCATTTTAGGGGGACATACTTGGAAGGCAGAACTTGCTGCTTCTGTTTGGGGAGGACAGACCTGACTGTGACTGGATTATCTGATAACCATTTGTGAATACTGAAATTCTGTTAGGCAGTAACTGATAACTGCTCTAAAGGATCATTAAATAGGATGCTGAAATTATGTATCTTAATACAGTGTGGTATGAGAATTACCAAGTCAAGAGAATTGTGGACATAAGCAAGTTTGGCCCCAATACTGCTCTTAACTCATTTTCCAGCTTACTATTTGCTATTTAAATGGTAGGCACCAGCTAAGCACTTCTAAGCACTAACACAGCTAGAACTAGGCAAAAATGGTTAGAACTCAGCTCTCTTCTACTAGTCCCTGTCATAATTAT)$ . 11BR053 ENSG00000103152.12 ENSG00000267795.6 +/+ +/+ chr16:83256 chr16:4794952 CDS/splice-site 5'UTR/splice-site deletion 7 5 0 499 23 high out-of-frame . . . . ENSG00000103152.12 ENSG00000267795.6 ENST00000397817.5 ENST00000615889.4 downstream upstream mismatches(1) ^(GTCACACTCATCTGAGGGCTCCAGACACATGGCCTGTGCGTCTGTCCTGCCCAGCGTCTCCCACCTGACGCGGCCAGGTGCCCAGTTGCTCTTCAAGGCCTTTTCAG___TTTTGCCGACGGATGGGGCAAAAGAAGCAGCGACCAGCTAGAGCAGGGCAGCCACACAGCTCGTCCGACGCAGCCCAGGCACCTGCAGAGCAGCCACACAGCTCGTCCGATGCAGCCCAGGCACCTTGCCCCAGGGAGCGCTGCTTGGGACCGCCCACCACTCCGGGCCCATACCGCAGCATCTATTTCTCAAGCCCAAAGGGCCACCTTACCCGACTGGGGTTGGA)GTTCTTCGACCAGCCGGCAGTCCCCCTGGCCCGGGCATTTCTGGGACAG___GTCCTAGTCCGGCGACTTCCTAATGGCACAGAACTCCGAGGCCGCATCGTGGAGACCGAGGCATACCTGGGGCCAGAGGATGAAGCCGCCCACTCAAGGGGTGGCCGGCAGACCCCCCGCAACCGAGGCATGTTCATGAAGCCGGGGACCCTGTACGTGTACATCATTTACGGCATGTACTTCTGCATGAACATCTCCAGCCAGG|GGAGTTTATAGCATCTGTGGATTTTGGTACCCACGGAGGTGCTGGAACCAATCGTTGAGGATTCCAAGGACAACTCTATGATGCAGGCACACCTGTCCTAGCTGCTCAAGGGTCGTGGGATGCAG(___GTGGCACGGTGCACGCCAAGATGGCTGTGTCCACAGAGGAGCTGGAGGCCACGGTTCAGGAAGTCCTGGGGAGACTGAAGAGCCACCAGTTTTTCCAGTCCACATGGGACACTGTTGCCTTCATTGTTTTCCTCACCTTCATGG___GCACCGTGCTGCTCCTGCTGCTGCTGGTCGTCGCCCACTGCTGCTGCTGCAGCTCCCCCGGGCCCCGCAGGGAAAGCCCCAGGAAGGTGAGCCCCTGGAAG___GAAAGACCCAAGGGAGTGGATAACTTGGCCCTGGAACCCTGACCCTGTGTCTCCTGCCCGGTGGCAGTAACAAAGCCTTCTGTCTGCCCAGAGCCTGAGTCTGCAGTGTCTTCCAGTCCCCGTCTGGGTGGGTGACGCGGGACTCGCCGCCCCACTCAGGTGGCCACCTGGCCTCTCCAAGCCTTCAGTCAGCACGACTGTGCCAGGTCATCCTCAGTCACCTAGCTGGGAGGGGAGCTGGTCTCAGGCCGGGCGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGG)$ MGQKKQRPARAGQPHSSSDAAQAPAEQPHSSSDAAQAPCPRERCLGPPTTPGPYRSIYFSSPKGHLTRLGLEFFDQPAVPLARAFLGQVLVRRLPNGTELRGRIVETEAYLGPEDEAAHSRGGRQTPRNRGMFMKPGTLYVYIIYGMYFCMNISSQ|gsl* 11BR053 ENSG00000170965.10(74964),ENSG00000199920.1(26773) ENSG00000170965.10 ./- -/- chrX:134733435 chrX:134602122 intergenic 5'UTR/splice-site deletion/read-through 6 4 0 20 43 high . . . . . . ENSG00000170965.10 . ENST00000359237.9 upstream downstream duplicates(2) GGAAAACTTACACGAGGAGTCTGTCAAGGAGTGCCACCCTTTG___GACAAAGAAAACGAGACTGACAACGAAGTCTGAAGGAGAAAGGCAAGTATCTTTCTGCTGGACTGGCCCTCAAGACTTAGCACAA|CTGCCTTCACCAGTGAGCACAAAGCCACATTTCAAAGGAAACTGACAAATTATCCCCAGCTGCCAGAAGAAG___AAATCCTCACTGGACGGCTTCCTGTTTCCTGTGGTTCATTATCTGATTGGCTGCAGGGATGAAAGTTTTTAAGTTCATAGGACTGATGATCCTCCTCACCTCTG(CGTTTTCAGCCGGTTCAGGACAAAGTCCAATGACTGTGCTGTGCTCCATAGACTGGTTCATGGTCACAGTGCACCCCTTCATGCTAAACAACGATGTGTGTGTACACTTTCATGAACTACACTTGGGCCTGGGTTGCCCCCCAAACCATGTTCAGCCACACGCCTACCAGTTCACCTACCGTGTTACTGAATGTGGCATCAGGGCCAAAGCTGTCTCTCAGGACATGGTTATCTACAGCACTGAGATACACTACTCTTCTAAGGGCACGCCATCTAAGTTTGTGATCCCAGTGTCATGTGCTGCCCCCCAAAAGTCCCCATGGCTCACCAAGCCCTGCTCCATGAGAGTAGCCAGCAAGAGCAGGGCCACAGCCCAGAAGGATGAGAAATGCTACGAGGTGTTCAGCTTGTCACAGTCCAGTCAAAGGCCCAACTGCGATTGTCCACCTTGTGTCTTCAGTGAAGAAGAGCATACCCAGGTCCCTTGTCACCAAGCAGGGGCTCAGGAGGCTCAACCTCTGCAGCCATCTCACTTTCTTGATATTTCTGAGGATTGGTCTCTTCACACAGATGATATGATTGGGTCCATGTGATCCTCAGGTTTGGGGTCTCCTGAAGATGCTATTTCTAGAATTAGTATATAGTGTACAAATGTCTGACAAATAAGTGCTCTTGTGACCCTCATGTGAGCACTTTTGAGAAAGAGAAACCTATAGCAACTTCATGAATTAAGCCTTTTTCTATATTTTTATATTCATGTGTAAACAAAAAATAAAATAAAATTCTGATCGCATAAAAA)$ . 11BR053 ENSG00000147526.20 ENSG00000254383.1(23645),ENSG00000206867.1(107393) +/+ ./+ chr8:38788819 chr8:40925499 CDS/splice-site intergenic deletion 3 6 1 95 15 high out-of-frame . . . . ENSG00000147526.20 . ENST00000317827.9 . downstream upstream mismatches(1) ^(GAGTCCGCGAGCCGGGAGCGGGAGCAGCAGAGGTCTAGCAGCCGGGCGCCGCGGGCCGGGGGCCTGAGGAGGCCACAGGACGGGCGTCTTCCCGGCTAGTGGAGCCCGGCGCGGGGCCCGCTGCGGCCGCACCGTGAGGGGAGGAGGCCGAGGAGGACGCAGCGCCGGCTGCCGGCGGGAGGAAGCGCTCCACCAGGGCCCCCGACGGCACTCGTTTAACCACATCCGCGCCTCTGCTGGAAACGCTTGCTGGCGCCTGTCACCGGTTCCCTCCATTTTGAAAGGGAAAAAGGCTCTCCCCACCCATTCCCCTGCCCCTAGGAGCTGGAGCCGGAGGAGCCGCGCTCATGGCGTTCAGCCCGTGGCAGATCCTGTCCCCCGTGCA)GTGGGCGAAATGGACGTGGTCTGCGGTACGCGGCGGGGCCGCCGGCGAGGACGAGGCTGGCGGGCCCGAGGGCGACCCCGAGGAGGAGGATTCGCAAGCCGAGACCAAATCCTTGAGTTTCAG___CTCGGATTCTGAAGGTAATTTTGAGACTCCTGAAGCTGAAACCCCGATCCGATCACCTTTCAAGGAGTCCTGTGATCCATCACTCGGATTGGCAGGACCTGGGGCCAAAAGCCAAG|GAAGAGCCTCCAAGACAATGTTGAAAAGTTGGCCCTGCAGCCAGCTTCAGCAGGGCAGTCCTGCATAGCTGCCACTTCTACCGAGGACCACCCTCTCCAGGTTCCACGCAAGCTCATGGTGGCTGCTCCAGCCCAGCAGACCCACTTCCTGGGAGTCATCACCCACTTGCATCTTACTGTGGCTCTTCTTCTGTGTCCCCCAGTCATCTGCCTACACAGAGAGAGCACAGCCACTGAAGCCTGAGACTCACGAAAGACaCCTGTGCTTTGAGGGGCTGCAGGGGGCTGCTTCCCAGGCAAACTTCATTGCAGAATTCTGATGTCCCTGTCTGCTTCCCACTCAGGGAGTTAATGGGACTCCACAACAGGACTCCCAGAAGTTCTCCCTGCCTGCATGTGATG MAFSPWQILSPVQWAKWTWSAVRGGAAGEDEAGGPEGDPEEEDSQAETKSLSFSSDSEGNFETPEAETPIRSPFKESCDPSLGLAGPGAKSQ|grasktmlkswpcsqlqqgspa* 11BR053 ENSG00000237515.9 ENSG00000185947.15(8111),ENSG00000261289.2(26692) +/+ ./- chr16:12916815 chr16:31925468 CDS/splice-site intergenic inversion 4 4 0 40 36 high out-of-frame . . . . ENSG00000237515.9 . ENST00000558583.3 . downstream downstream duplicates(1) ^(ATTCCACAAGTGTCGCTTCGCTCTCTTCAGCGCACTTGGCGAGCTGGTGAGGTGAGAGGGATACTGCGAGAGGGCTAGGGGCGGCCAGTCCGGGGCTGCCGGCCAAGGCTAGGCGCTGCCAGCCCGATTCTCCTCTGCTCTCCACCCCCGCCTCACCCAGTGGCCGGCCGGACCTGCACCCCGCGCTTGACCCCGCTCATCCTCCCCCCGCCCGGCCGGGCGCGCTCCTCCCCGGCCGGCCCCTCGGCGCGCGGCGCGCTGGAGGCGAACGCGGGCTGAGGCGAACGCGGGCTGAGCCGAGCGCAGTGGCCGCCGACCACCGAGCGCCCCGCGCCGCTCCCTGCATGTGCGGCCCGCGGCGGCTCGCAGCTCCCGGCAGCAGCCTCGGCAGCTTCGGCCGCGCCTCGAGAGGCGGCCGCAGAGGCTCCAGCGGCGGCCGAGCGGCCGAGCCCGGGCTGGGAGACACCATGCGCCGCGTCCTTCGGCTGCTCCTCGGTTGCTTCCTCACCGAGCTGTGCGCCCGCGTGTGCCGGGCGCAGGAGCGAGCGGGACACGGGCAGCTGGCGCAACTGGGCGGCGTGTTGCTGCTGGCGGGGGGCAACCGCTCCGGGGCCGCCTCCGGAGAGGCCAGCGAGGGCGCTGAGGCATCGGACGCGCCCCCGACCCGGGCGCCCACGCCGGACTTCTGCCGGGGCTACTTCGATGTCATGGGCCAGTGGGACCCGCCGTTCAACTGCAGCTCGGGCGACTTCATCTTCTGCTGCGGGACTTGTGGCTTCCGGTTCTGCTGCACGTTTAAGAAGCGGCGACTGAACCAAAGCACCTGCACCAACTACGACACGCCGCTCTGGCTCAACACCGGCAAGCCCCCCGCCCGCAAGGACGACCCCTTGCACGACCCCACCAAGGACAAGACCAACCTGATCGTCTACATCAT)CTGCGGGGTGGTGGCCGTCATGGTGCTCGTGGGCATCTTCACCAAGCTGGGGCTGGAGAAAGCGCACCGGCCCCAAAGGGAGCACATGTCCAG___GGCCCTTGCGGATGTCATGAGACCACAGGGCCACTGCAACACTGATCACATGGAGAGAGACCTAAACATCGTTGTCCACGTCCAGCATTATGAGAACATGGACACGAGAACCCCCATAAATAATCTTC|AGGACTTTATCCAACAACAGAAGACCATCTTGGCATGACCTCGGAGTAGAATCATTCAGAAGTCTGCTAACAATAAGAAGCCAGAGAATTGCCAGAAGAATATTGCCTTAAAGGCTCAATGGTCTCCACATCTTAAGGTTCACAAACCCATACAAGTAAAACAATATTTG MRRVLRLLLGCFLTELCARVCRAQERAGHGQLAQLGGVLLLAGGNRSGAASGEASEGAEASDAPPTRAPTPDFCRGYFDVMGQWDPPFNCSSGDFIFCCGTCGFRFCCTFKKRRLNQSTCTNYDTPLWLNTGKPPARKDDPLHDPTKDKTNLIVYIICGVVAVMVLVGIFTKLGLEKAHRPQREHMSRALADVMRPQGHCNTDHMERDLNIVVHVQHYENMDTRTPINNL|qdfiqqqktila* 11BR053 ENSG00000140396.13 ENSG00000167910.4 -/- -/- chr8:70123884 chr8:58492528 CDS/splice-site CDS/splice-site deletion 2 6 0 87 7 high out-of-frame . Domain_of_unknown_function_(DUF1518)_(100%),Domain_of_unknown_function_(DUF4927)(100%),Nuclear_receptor_coactivator(100%),PAS_domain(100%),PAS_fold(100%),Steroid_receptor_coactivator(100%),Unstructured_region_on_nuclear_receptor_coactivator_protein(100%)|Cytochrome_P450(100%) . . ENSG00000140396.13 ENSG00000167910.4 ENST00000452400.7 ENST00000301645.4 upstream downstream . ^(AGCAGTTATTAACACGGGAACATGGCGGCCGCAGCCTCGGCTACAGCTTCGGCGGCGAAGGTCAGCGCCGACGGCAGCCGGCACCTGACGGCGTGACCGACCCGAGCCG___ATTTCTCTTGGATTTGGCTACACACTTATAGATCTTCTGCACTGTTTACAGGCACAG___TTGCTGATATGTGTTCAAGATGAGTGGGATGGGAGAAAATACCTCTGACCCCTCCAGGGCAGAGACAAGAAAGCGCAAGGAATGTCCTGACCAACTTGGACCCAG___CCCCAAAAGGAACACTGAAAAACGTAATCGTGAACAGGAAAATAAATATATAGAAGAACTTGCAGAGTTGATTTTTGCAAATTTTAATGATATAGACAACTTTAACTTCAAACCTGACAAATGTGCAATCTTAAAAGAAACTGTGAAGCAAATTCGTCAGATCAAAGAACAAG___AGAAAGCAGCAGCTGCCAACATAGATGAAGTGCAGAAGTCAGATGTATCCTCTACAGGGCAGGGTGTCATCGACAAGGATGCGCTGGGGCCTATGATGCTTGAG___GCCCTTGATGGGTTCTTCTTTGTAGTGAACCTGGAAGGCAACGTTGTGTTTGTGTCAGAGAATGTGACACAGTATCTAAGGTATAACCAAGAAGAGCTGATGAACAAAAGTGTATATAGCATCTTGCATGTTGGGGACCACACGGAATTTGTCAAAAACCTGCTGCCAAAGTCTATAG___TAAATGGGGGATCTTGGTCTGGCGAACCTCCGAGGCGGAACAGCCATACCTTCAATTGTCGGATGCTGGTAAAACCTTTACCTGATTCAGAAGAGGAGGGTCATGATAACCAGGAAGCTCATCAGAAATATGAAACTATGCAGTGCTTCGCTGTCTCTCAACCAAAGTCCATCAAAGAAGAAGGAGAAG___ATTTGCAGTCCTGCTTGATTTGCGTGGCAAGAAGAGTTCCCATGAAGGAAAGACCAGTTCTTCCCTCATCAGAAAGTTTTACTACTCGCCAGGATCTCCAAG___GCAAGATCACGTCTCTGGATACCAGCACCATGAGAGCAGCCATGAAACCAGGCTGGGAGGACCTGGTAAGAAGGTGTATTCAGAAGTTCCATGCGCAGCATGAAGGAGAATCTGTGTCCTATGCTAAGAGGCATCATCATGAAG___TACTGAGACAAGGATTGGCATTCAGTCAAATCTATCGTTTTTCCTTGTCTGATGGCACTCTTGTTGCTGCACAAACGAAGAGCAAACTCATCCGTTCTCAGACTACTAATGAACCTCAACTTGTAATATCTTTACATATGCTTCACAG___AGAGCAGAATGTGTGTGTGATGAATCCGGATCTGACTGGACAAACGATGGGGAAGCCACTGAATCCAATTAGCTCTAACAGCCCTGCCCATCAGGCCCTGTGCAGTGGGAACCCAGGTCAGGACATGACCCTCAGTAGCAATATAAATTTTCCCATAAATGGCCCAAAGGAACAAATGGGCATGCCCATGGGCAGGTTTGGTGGTTCTGGGGGAATGAACCATGTGTCAGGCATGCAAGCAACCACTCCTCAGGGTAGTAACTATGCACTCAAAATGAACAGCCCCTCACAAAGCAGCCCTGGCATGAATCCAGGACAGCCCACCTCCATGCTTTCACCAAGGCATCGCATGAGCCCTGGAGTGGCTGGCAGCCCTCGAATCCCACCCAGTCAGTTTTCCCCTGCAGGAAGCTTGCATTCCCCTGTGGGAGTTTGCAGCAGCACAGGAAATAGCCATAGTTATACCAACAGCTCCCTCAATGCACTTCAGGCCCTCAGCGAGGGGCACGGGGTCTCATTAGGGTCATCGTTGGCTTCACCAGACCTAAAAATGGGCAATTTGCAAAACTCCCCAGTTAATATGAATCCTCCCCCACTCAGCAAGATGGGAAGCTTGGACTCAAAAGACTGTTTTGGACTATATGGGGAGCCCTCTGAAGGTACAACTGGACAAGCAGAGAGCAGCTGCCATCCTGGAGAGCAAAAGGAAACAAATGACCCCAACCTGCCCCCGGCCGTGAGCAGTGAGAGAGCTGACGGGCAGAGCAGACTGCATGACAGCAAAGGGCAGACCAAACTCCTGCAGCTGCTGACCACCAAATCTGATCAGATGGAGCCCTCGCCCTTAGCCAGCTCTTTGTCGGATACAAACAAAGACTCCACAGGTAGCTTGCCTGGTTCTGGGTCTACACATGGAACCTCGCTCAAGGAGAAGCATAAAATTTTGCACAGACTCTTGCAGGACAGCAGTTCCCCTGTGGACTTGGCCAAGTTAACAGCAGAAGCCACAGGCAAAGACCTGAGCCAGGAGTCCAGCAGCACAGCTCCTGGATCAGAAGTGACTATTAAACAAGAGCCGGTGAGCCCCAAGAAGAAAGAGAATGCACTACTTCGCTATTTGCTAGATAAAGATGATACTAAAGATATTGGTTTACCAGAAATAACCCCCAAACTTGAGAGACTGGACAGTAAGACAGATCCTGCCAGTAACACAAAATTAATAGCAATGAAAACTGAGAAGGAGGAGATGAGCTTTGAGCCTGGTGACCAG___CCTGGCAGTGAGCTGGACAACTTGGAGGAGATTTTGGATGATTTGCAGAATAGTCAATTACCACAGCTTTTCCCAGACACGAGGCCAGGCGCCCCTGCTGGATCAGTTGACAAGCAAGCCATCATCAATGACCTCATGCAACTCACAGCTGAAAACAGCCCTGTCACACCTGTTGGAGCCCAGAAAACAGCACTGCGAATTTCACAGAGCA___CTTTTAATAACCCACGACCAGGGCAACTGGGCAGGTTATTGCCAAACCAGAATTTACCACTTGACATCACATTGCAAAGCCCAACTGGTGCTGGACCTTTCCCACCAATCAGAAACAGTAGTCCCTACTCAGTGATACCTCAGCCAGGAATGATGGGTAATCAAGGGATGATAGGAAACCAAGGAAATTTAGGGAACAGTAGCACAG___GAATGATTGGTAACAGTGCTTCTCGGCCTACTATGCCATCTGGAGAATGGGCACCGCAGAGTTCGGCTGTGAGAGTCACCTGTGCTGCTACCACCAGTGCCATGAACCGGCCAGTCCAAGGAGGTATGATTCGGAACCCAGCAGCCAGCATCCCCATGAGGCCCAGCAGCCAGCCTGGCCAAAGACAGACGCTTCAGTCTCAGGTCATGAATATAG___GGCCATCTGAATTAGAGATGAACATGGGGGGACCTCAGTATAGCCAACAACAAGCTCCTCCAAATCAGACTGCCCCATGGCCTGAAAGCATCCTGCCTATAGACCAGGCGTCTTTTGCCAGCCAAAACAG___GCAGCCATTTGGCAGTTCTCCAGATGACTTGCTATGTCCACATCCTGCAGCTGAGTCTCCGAGTGATGAGGGAGCTCTCCTGGACCAGCTGTATCTGGCCTTGCGGAATTTTGATGGCCTGGAGGAGATTGATAGAGCCTTAGGAATACCCGAACTGGTCAGCCAG___AGCCAAGCAGTAGATCCAGAACAGTTCTCAAGTCAGGATTCCAACATCATGCTGGAGCAGAAGGCGCCCGTTTTCCCACAGCAGTATGCATCTCAGGCACAAATGGCCCAGGGTAGCTATTCTCCCATGCAAGATCCAAACTTTCACACCATGGGACAGCGGCCTAGTTATGCCACACTCCGTATGCAGCCCAGACCGGGCCTCAGGCCCACGGGCCTAGTGCAGAACCAGCCAAATCAACTAAGACTTCAACTTCAGCATCGCCTCCAAGCACAGCAG___AATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAG___GCACCTATTAATGCACAGATGCTGGCCCAGAGACAGAGGGAAATCCTGAACCAGCATCTTCGACAGAGACAAATGCATCAGCAACAGCAAGTTCAGCAACGAACTTTGATGATGAGAGGACAAGGGTTGAATATGACACCAAGCATGGTGGCTCCTAGTGGTATGCCAGCAACTATGAGCAACCCTCGGATTCCCCAGGCAAATGCACAGCAGTTTCCATTTCCTCCAAACTACG___GAATAAGTCAGCAACCTGATCCAGGCTTTACTGGGGCTACGACTCCCCAGAGCCCACTTATGTCACCCCGAATGGCACATACACAGAGTCCCATGATGCAACAGTCTCAGGCCAACCCAGCCTATCAGGCCCCCTCCGACATAAATGGATGGGCGCAGGGGAACATGGGCGGAAACAG___CATGTTTTCCCAGCAGTCCCCACCACACTTTGGGCAGCAAGCAAACACCAGCATGTACAGTAACAACAT)GAACATCAATGTGTCCATGGCGACCAACACAGGTGGCATGAGCAGCATGAACCAGATGACAGGACAGATCAGCATGACCTCAGTGACCTCCGTGCCTACGTCAGGGCTGTCCTCCATGGGTCCCGAGCAG|ATAGTATAATCAAGGAATCGCTGAGGCTTTCCAGTGCCTCCCTCAACATCCGGACAGCTAAGGAGGATTTCACTTTGCACCTTGAGGACGGTTCCTACAACATCCGAAAAGATGACATCATAGCTCTTTACCCACAGTTAATGCACTTAGATCCAGAAATCTACCCAGACCCTTTG___ACTTTTAAATATGATAGGTATCTTGATGAAAACGGGAAGACAAAGACTACCTTCTATTGTAATGGACTCAAGTTAAAGTATTACTACATGCCC(TTTGGATCGGGAGCTACAATATGTCCTGGAAGATTGTTCGCTATCCACGAAATCAAGCAATTTTTGATTCTGATGCTTTCTTATTTTGAATTGGAGCTTATAGAGGGCCAAGCTAAATGTCCACCTTTGGACCAGTCCCGGGCAGGCTTGGGCATTTTGCCGCCATTGAATGATATTGAATTTAAATATAAATTCAAGCATTTGTGAATACATGGCTGGAATAAGAGGACACTAGATGATATTACAGGACTGCAGAACACCCTCACCACACAGTCCCTTTGGACAAATGCATTTAGTGGTGGTAGAAATGATTCACCAGGTCCAATGTTGTTCACCAGTGCTTGCTTGTGAATCTTAACATTTTGGTGACAGTTTCCAGATGCTATCACAGACTCTGCTAGTGAAAAGAACTAGTTTCTAGGAGCACAATAATTTGTTTTCATTTGTATAAGTCCATGAATGTTCATATAGCCAGGGATTGAAGTTTATTATTTTCAAAGGAAAACACCTTTATTTTATTTTTTTTCAAAATGAAGATACACATTACAGCCAGGTGTGGTAGCAGGCACCTGTAGTCTTAGCTACTCGAGAGGCCAAAGAAGGAGGATGGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGACAGCTTAGTGAGATCCCGTCTCCGAAGAAAAGATATGTATTCTAATTGGCAGATTGTTTTTTCCTAAGGAAACTGCTTTATTTTTATAAAACTGCCTGACAATTATGAAAAAATGTTCAAATTCACGTTCTAGTGAAACTGCATTATTTGTTGACTAGATGGTGGGGTTCTTCGGGTGTGATCATATATCATAAAGGATATTTCAAATGATTATGATTAGTTATGTCTTTTAATAAAAAGGAAATATTTTTCAACTTCTTCTATATCCAAAATTCAGGGCTTTAAACATGATTATCTTGATTTCCCAAAAACACTAAAGGTGGTTTTATTTTCCCTTCATGTTTTAACTTATTGTTGCTGAAAACTCTATGTCCGGCTTTAACTATCTTCTCTATATTTTTATTTCATTCACATTAATGAGAAGAGTTTTCTCAGAGATTAAAAAAGGTAGTTTTTCTGTCATTGTTAAATACACATTATCACTGAAAAAATGTAGCTTTTATGTGATATGTTTTAAAGTTAAAACTGGATGGAAATAGCCATTTGGAAGCTTTGGTTATGAAACATGTGGAGTGTATTAAGTGCAGCTTGACATTATGTTTTATTTAAATGCTTTTTATCGCTAAATGACTTGCAGATGAAAAAAACTAAGGTGACTCGAGTGTTTAAATGCTGTGTACAACAATGCTTTGATAAAATATTTTAAGTATGAGTTATCAGCTCTATGTCAATTGATATTTCTGTGTAGTATTTATATTTAAATTATATTTACCTTTTTGCTTATTTTACAAATATTAAGAAAATATTCTAACATTTGATAATTTTGAAATGATTCATCTTTCAGAAATAAAAGTATGAATCTA)$ MSGMGENTSDPSRAETRKRKECPDQLGPSPKRNTEKRNREQENKYIEELAELIFANFNDIDNFNFKPDKCAILKETVKQIRQIKEQEKAAAANIDEVQKSDVSSTGQGVIDKDALGPMMLEALDGFFFVVNLEGNVVFVSENVTQYLRYNQEELMNKSVYSILHVGDHTEFVKNLLPKSIVNGGSWSGEPPRRNSHTFNCRMLVKPLPDSEEEGHDNQEAHQKYETMQCFAVSQPKSIKEEGEDLQSCLICVARRVPMKERPVLPSSESFTTRQDLQGKITSLDTSTMRAAMKPGWEDLVRRCIQKFHAQHEGESVSYAKRHHHEVLRQGLAFSQIYRFSLSDGTLVAAQTKSKLIRSQTTNEPQLVISLHMLHREQNVCVMNPDLTGQTMGKPLNPISSNSPAHQALCSGNPGQDMTLSSNINFPINGPKEQMGMPMGRFGGSGGMNHVSGMQATTPQGSNYALKMNSPSQSSPGMNPGQPTSMLSPRHRMSPGVAGSPRIPPSQFSPAGSLHSPVGVCSSTGNSHSYTNSSLNALQALSEGHGVSLGSSLASPDLKMGNLQNSPVNMNPPPLSKMGSLDSKDCFGLYGEPSEGTTGQAESSCHPGEQKETNDPNLPPAVSSERADGQSRLHDSKGQTKLLQLLTTKSDQMEPSPLASSLSDTNKDSTGSLPGSGSTHGTSLKEKHKILHRLLQDSSSPVDLAKLTAEATGKDLSQESSSTAPGSEVTIKQEPVSPKKKENALLRYLLDKDDTKDIGLPEITPKLERLDSKTDPASNTKLIAMKTEKEEMSFEPGDQPGSELDNLEEILDDLQNSQLPQLFPDTRPGAPAGSVDKQAIINDLMQLTAENSPVTPVGAQKTALRISQSTFNNPRPGQLGRLLPNQNLPLDITLQSPTGAGPFPPIRNSSPYSVIPQPGMMGNQGMIGNQGNLGNSSTGMIGNSASRPTMPSGEWAPQSSAVRVTCAATTSAMNRPVQGGMIRNPAASIPMRPSSQPGQRQTLQSQVMNIGPSELEMNMGGPQYSQQQAPPNQTAPWPESILPIDQASFASQNRQPFGSSPDDLLCPHPAAESPSDEGALLDQLYLALRNFDGLEEIDRALGIPELVSQSQAVDPEQFSSQDSNIMLEQKAPVFPQQYASQAQMAQGSYSPMQDPNFHTMGQRPSYATLRMQPRPGLRPTGLVQNQPNQLRLQLQHRLQAQQNRQPLMNQISNVSNVNLTLRPGVPTQAPINAQMLAQRQREILNQHLRQRQMHQQQQVQQRTLMMRGQGLNMTPSMVAPSGMPATMSNPRIPQANAQQFPFPPNYGISQQPDPGFTGATTPQSPLMSPRMAHTQSPMMQQSQANPAYQAPSDINGWAQGNMGGNSMFSQQSPPHFGQQANTSMYSNNMNINVSMATNTGGMSSMNQMTGQISMTSVTSVPTSGLSSMGPEQ|iv* 11BR053 ENSG00000103152.12 ENSG00000169180.11 +/- -/- chr16:77083 chr16:28101945 5'UTR CDS/splice-site duplication/3'-3' 7 1 0 32 185 high . . . . . ENSG00000103152.12 ENSG00000169180.11 . ENST00000304658.9 upstream downstream . CGACGGCCCAGCGCCT___GGCCCCTCCACTaTGGCAGGCACAATCCCACCCCACAACCCACCTCTGCCGCACAAAAACCCTCGAGGGGCTTTTCCTGAGCTTTGACTTCTGTGACCCTGGTCCTGGAAAGGAGCACCTGAAAAGGCCTTGAAGAGCAACTGGGCACCTGGCCGCGTCAG|GCTTTCGGACAGTCCTTTCTCCAGCCCGACATCCACCTTTTTAAACAAAATCTCTTCTACTTGGAGACTCTCAACACCAAGCAGAAGCTGTACCACAAG___AAGATCTTCCGGACTGCCATGCTGTTCCAGTTTGTGAACGTGCTGCTCCAGGTCCTGGTCCACAAGTCCCATGATCTTCTGCAGGAGGAGATTGGCATCGCCATCTACAACATGG(CCTCAGTCGACTTTGATGGCTTCTTTGCCGCCTTCCTCCCAGAGTTCCTGACCAGCTGTGATGGTGTGGATGCCAACCAGAAAAGTGTGCTGGGGCGGAATTTCAAGATGGATCGG___GACCTGCCCTCATTCACCCAGAATGTGCACAGGCTGGTCAACGACCTGCGCTACTACAGACTCTGCAACGACAGCCTGCCCCCTGGCACTGTGAAGCTCTAGGCCTGCTACTGCCTGGGGACACGGACTTCTGCTGCTGCCACCTGCGCCAGCCCTACCTTCCACCACAGATGTCTCCCAGATGGGCCTTGGTCACACTCCTTGGCTTCTCCCACCGCAAGCAACGCTGCCTGCCTCTGCCGCTCCTCCACATCTTGCCGCTGCCCAGCAGAGCTGGCTTCTGGGTCCACCTGAGCACTGGACGGTGCTCCCAGGGCGTTGGAGCAGGCGGAGGGGTGTGTGGCCAGGTACTAGGAGGCACCAGGAAATCCCGCGGGGTGGCCCATGCAGACCAGGCGCACGTGGCTCATGGGGCAGAATTGCCAAGGACAGCTCACGACAGTGCCACCTTCTCACCATTCCAGCCAAGGAGAGATGTGACGTTGGAACTGCTCTGGCACTTCTGTCAAGCCTCCCCCGCCCCAATTGCCTTGAGATCTCTGCTCTTTGTCAGAGATTTGCAAAGACTCACGTTTTTGTTGTTTTCTCATCATTCCATTGTGATACTAAGAAACTAAGAAGCTTAATGAAAAGAAATAAAATGCC)$ . 11BR053 ENSG00000171109.19 ENSG00000224957.6 +/+ +/- chr3:179368103 chr3:672605 CDS/splice-site intron inversion/3'-3' 5 1 0 79 2 high out-of-frame . Dynamin_family(100%)| . . ENSG00000171109.19 ENSG00000224957.6 ENST00000471841.6 . downstream downstream . ^(ACTCCCCCTGCCTCCTCTCCGCCTTTAACTTCTCGGGAAGATGAGGCAGTTTGGCATCTGTGGCCGAGTTGCTGTTGCCGGGTGATAGTTGGAGCGGAGACT___TAGCATAATGGCAGAACCTGTTTCTCCACTGAAGCACTTTGTGCTGGCTAAGAAGGCGATTACTGCAATCTTTGACCAGTTACTGGAGTTTGTTACTGAAGGATCACATTTTGTTGAAG___CAACATATAAGAATCCGGAACTTGATCGAATAGCCACTGAAGATGATCTGGTAGAAATGCAAGGATATAAAGACAAGCTTTCCATCATTGGTGAGGTGCTATCTCGGAGACACATGAAGGTGGCATTTTTTGGCAG___GACAAGCAGTGGGAAGAGCTCTGTTATCAATGCAATGTTGTGGGATAAAGTTCTCCCTAGTGGGATTGGCCATATAACCAATTGCTTCCTAAGTGTTGAAGGAACTGATGGAGATAAAGCCTATCTTATGACAGAAGGATCAGATGAAAAAAAGAGTGTGAAG___ACAGTTAATCAACTGGCCCATGCCCTTCACATGGACAAAGATTTGAAAGCTGGCTGTCTTGTACGTGTGTTTTGGCCAAAAGCAAAATGTGCCCTCTTGAGAGATGACCTGGTGTTAGTAGACAG___TCCAGGCACAGATGTCACTACAGAGCTGGATAGCTGGATTGATAAGTTTTGCCTAGATGCTGATGTCTTTGTTTTGGTCGCAAACTCTGAATCAACACTAATGAATACG___GAAAAACACTTTTTTCACAAGGTGAATGAGCGGCTTTCCAAGCCTAATATTTTCATTCTCAATAATCGTTGGGATGCCTCTGCATCAGAGCCAGAATATATGGAAGAC___GTACGCAGACAGCACATGGAAAGATGCCTGCATTTCTTGGTGGAGGAGCTCAAAGTTGTAAATGCTTTAGAAGCA)CAGAATCGTATCTTCTTTGTTTCAGCAAAGGAAGTTCTTAGTGCTAGAAAGCAAAAAGCACAGGGGATGCCAGAAAGTG___GTGTGGCACTTGCTGAAGGATTTCATGCAAGATTACAGGAATTTCAGAATTTTGAACAAATCTTTGAG|ACAGTTCATAAATAGTGTATAAAAATGCTACTGAGACTGGGTGCAGTGTCTCATGCCTGTAATCCCAGCACTTTCAGAGGCTGAGGCAGGTGGATCATGAGGTCAAAGATCAAGACCCTCCTGGCCAACATCGTG MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPELDRIATEDDLVEMQGYKDKLSIIGEVLSRRHMKVAFFGRTSSGKSSVINAMLWDKVLPSGIGHITNCFLSVEGTDGDKAYLMTEGSDEKKSVKTVNQLAHALHMDKDLKAGCLVRVFWPKAKCALLRDDLVLVDSPGTDVTTELDSWIDKFCLDADVFVLVANSESTLMNTEKHFFHKVNERLSKPNIFILNNRWDASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEAQNRIFFVSAKEVLSARKQKAQGMPESGVALAEGFHARLQEFQNFEQIFE|tvhk* 11BR053 ENSG00000152492.15 ENSG00000226320.6 +/+ +/- chr3:191361159 chr3:34277216 CDS/splice-site intron inversion/3'-3' 1 4 0 32 11 high out-of-frame . . . . ENSG00000152492.15 ENSG00000226320.6 ENST00000392455.9 . downstream downstream . ^(ATTTCCGGGCTCCGGATATTTGGTATCGATTGGGGCCGGGGACGCGGAGCAGGTGGCCGCGGCGGGGCAGCTGGGCCGCCAGCTTGGTGCCTCGGGGACCGTCTCCCGCTGCTTTGGTCACCAGCCCCTGCCCGCCCGACCCGCTCCGTTCTCCGGCCTGCGAGCCCTGCCGGCCGGACTTTGCGCCGCGTCCGGCGCTGCTGCTGCGCTCGGGGCCCCGCTCGGCGCCGGCGGTGACCGGGAAGCCCGCGTTAAAGGGGCAACCGGGACCCTGGCCCGGTATGGCTGAAGTCAGCATCGACCAGTCCAAGCTGCCTGGAGTCAAGGAAG___TATGCCGAGATTTTGCTGTCCTGGAGGACCACACCCTGGCTCACAGCCTGCAGGAACAAGAGA___TTGAGCATCATTTGGCATCGAACGTTCAGCGGAACCGTTTGGTCCAGCATGATCTCCAGGTGGCTAAGCAGCTCCAAGAGGAAGATCTGAAAGCGCAGG)CCCAGCTCCAGAAGCGCTACAAAGACCT___TGAACAACAAGACTGTGAAATTGCTCAGGAAATTCAGGAGAAGCTGGCTATTGAGGCAGAGAGACGACGCATTCAGGAGAAGAAGGATGAG|CCAGAGGATCCAGTGGAGATCTGAGGATAGAAGAATCCTGTGTTCCTGAATGACTGCATGGAGCAGTACaTTACCATCCTGGCACCTGCACCGGACTATGACATGAATGAGGATAAACCTATACTTTGTTAAGCCAGGGATATTTGAGAGTTGTATATTATAGCACCTAGC MAEVSIDQSKLPGVKEVCRDFAVLEDHTLAHSLQEQEIEHHLASNVQRNRLVQHDLQVAKQLQEEDLKAQAQLQKRYKDLEQQDCEIAQEIQEKLAIEAERRRIQEKKDE|pedpvei* 11BR053 ENSG00000049618.24 ENSG00000237735.2 +/+ -/+ chr6:157167185 chr21:16801927 CDS/splice-site intron translocation/5'-5' 3 2 0 60 11 high out-of-frame . . . . ENSG00000049618.24 ENSG00000237735.2 ENST00000346085.10 . downstream upstream mismappers(1) ^(CACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACC___TTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCGGCGGGCCGCGTGGATGCGCACAGGAGGGGCCGCGGCCTGAAAAGTGGGGGTTATTGTCTCCCCCCGCCCCCCGCCCGGCCTCGCCACGCCGCGGCGATCATGGCCGCGCGGGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGCGGGCGCGGGCGCGGGCAGGCAGCGGCGAACGGCGGGCGCCCCCCGGGCCGCGGCCGGCGCCCGGAGCCCGGGACCTGGAGGCGGGGGCGCGCGGCGCGGCGGCGGCGGCGGCGGCACCGGGACCCATGCTGGGGGGCGGCGGCGACGGCGGCGGCGGCCTGAACAGTGTGCACCACCACCCCCTGCTCCCCCGTCACGAACTCAACATGGCCCATAACGCGGGCGCCGCGGCCGCCGCCGGCACCCACAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGGGTGGAAGCGCCGCCGCGCTGTCCTCCTCCTCCTCCTCCTCCGCGGCGGCAGCGGCGGCATCCTCTTCCTCCTCGTCGGGCCCGGGCTCGGCCATGGAGACGGGGCTGCTCCCCAACCACAAACTGAAAACCGTTGGCGAAGCCCCCGCCGCGCCGCCCCACCAGCAGCACCACCACCACCACCATGCCCACCACCACCACCACCATGCCCACCACCTCCACCACCACCACGCACTACAGCAGCAGCTAAACCAGTTCCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACATCCCATTTCCAACAACAACAGCTTGGGCGGCGCGGGCGGCGGCGCGCCTCAGCCCGGCCCCGACATGGAGCAGCCGCAACATGGAGGCGCCAAGGACAGTGCTGCGGGCGGCCAGGCCGACCCCCCGGGCCCGCCGCTGCTGAGCAAGCCGGGCGACGAGGACGACGCGCCGCCCAAGATGGGGGAGCCGGCGGGCGGCCGCTACGAGCACCCGGGCTTGGGCGCCCTGGGCACGCAGCAGCCGCCGGTCGCCGTGCCCGGGGGCGGCGGCGGCCCGGCGGCCGTCCCGGAGTTTAATAATTACTATGGCAGCGCTGCCCCTGCGAGCGGCGGCCCCGGCGGCCGCGCTGGGCCTTGCTTTGATCAACATGGCGGACAACAAAGCCCCGGGATGGGGATGATGCACTCCGCCTCCGCCGCCGCCGCCGGGGCCCCCGGCAGCATGGACCCCCTGCAGAACTCCCACGAAGGGTACCCCAACAGCCAGTGCAACCATTATCCGGGCTACAGCCGGCCCGGCGCGGGCGGCGGCGGCGGCGGCGGCGGCGGAGGAGGAGGAGGCAGCGGAGGAGGAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGAGCAGGAGCGGGAGCTGTGGCGGCGGCGGCCGCGGCGGCGGCGGCAGCAGCAGGAGGCGGCGGCGGCGGCGGCTATGGGGGCTCGTCCGCGGGGTACGGGGTGCTGAGCTCCCCCCGGCAGCAGGGCGGCGGCATGATGATGGGCCCCGGGGGCGGCGGGGCCGCGAGCCTCAGCAAGGCGGCCGCCGGCTCGGCGGCGGGGGGCTTCCAGCGCTTCGCCGGCCAGAACCAGCACCCGTCGGGGGCCACCCCGACCCTCAATCAGCTGCTCACCTCGCCCAGCCCCATGATGCGGAGCTACGGCGGCAGCTACCCCGAGTACAGCAGCCCCAGCGCGCCGCCGCCGCCGCCGTCGCAGCCCCAGTCCCAGGCGGCGGCGGCGGGGGCGGCGGCGGGCGGCCAGCAGGCGGCCGCGGGCATGGGCTTGGGCAAGGACATGGGCGCCCAGTACGCCGCTGCCAGCCCGGCCTGGGCGGCCGCGCAACAAAGGAGTCACCCGGCGATGAGCCCCGGCACCCCCGGACCGACCATGGGCAGATCCCAG___GGCAGCCCAATGGATCCAATGGTGATGAAGAGACCTCAGTTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAGCAGAGCAGTCCGTACCCAGGAGGTTCCTATGGCCCTCCAGGCCCACAGCGGTATCCAATTGGCATCCAGGGTCGGACTCCCGGGGCCATGGCCGGAATGCAGTACCCTCAGCAGCAG___GACTCTGGAGATGCCACATGGAAAGAAACATTCTGGTTG___ATGCCACCTCAGTATGGACAGCAAGGTGTGAGTGGTTACTGCCAGCAGGGCCAACAGCCATATTACAGCCAGCAGCCGCAGCCCCCGCACCTCCCACCCCAGGCGCAGTATCTGCCGTCCCAGTCCCAGCAGAGGTACCAGCCGCAGCAG___GACATGTCTCAGGAAGGCTATGGAACTAGATCTCAACCTCCTCTGGCCCCCGGAAAACCTAACCATGAAGACTTGAACTTAATACAGCAAGAAAGACCATCAAGTTTACCA___GATCTGTCTGGCTCCATTGATGACCTCCCCACGGGAACGGAAGCAACTTTGAGCTCAGCAGTCAGTGCATCCGGGTCCACGAGCAGCCAAGGGGATCAGAGCAACCCGGCGCAGTCGCCTTTCTCCCCACATGCGTCCCCTCATCTCTCCAGCATCCCGGGGGGCCCATCTCCCTCTCCTGTTGGCTCTCCTGTAGGAAGCAACCAGTCTCGATCTGGCCCAATCTCTCCTGCAAGTATCCCAG___GTAGTCAGATGCCTCCGCAGCCACCCGGGAGCCAGTCAGAATCCAGTTCCCATCCCGCCTTGAGCCAGTCACCAATGCCACAGGAAAGAG___GTTTTATGGCAGGCACACAAAGAAACCCTCAGATGGCTCAGTATGGACCTCAACAGACAGGACCATCCATGTCGCCTCATCCTTCTCCTGGGGGCCAGATGCATGCTGGAATCAGTAGCTTTCAGCAGAGTAACTCAAGTGGGACTTACGGTCCACAGATGAGCCAGTATGGACCACAAG___GTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCCCAGTGCAAGCTACAGCGGCCCAGGGCCCGGTATGGGTATCAGTGCCAACAACCAGATGCATGGACAAGGGCCAAGCCAGCCATGTGGTGCTGTGCCCCTGGGACGAATGCCATCAGCTGGGATGCAGAACAGACCATTTCCTGGAAATATGAGCAGCATGACCCCCAGTTCTCCTGGCATGTCTCAGCAGGGAGGGCCAGGAATGGGGCCGCCAATGCCAACTGTGAACCGTAAGGCACAGGA)GGCAGCCGCAGCAGTGATGCAGGCTGCTGCGAACTCAGCACAAAGCAG___GCAAGGCAGTTTCCCCGGCATGAACCAGAGTGGACTTATGGCTTCCAGCTCTCCCTACAGCCAGCCCATGAACAACAGCTCTAGCCTGATGAACACGCAGGCGCCGCCCTACAGCATGGCGCCCGCCATGGTGAACAGCTCGGCAG|GCTTTGAGATCCCATGGGCTCAAGAAACAAATGAAAGAGAACATCTCTGCCCAGCCATAGAAGAAACTACCAGACTCTGAAGTGGAACCACTTATACCAGTG...GTGACCGTGTGCCCCACACCCAGTGAGCAGCAAGAACCCCCTCTAGGACTGGTGGAGCTGGAACCATCATTAAAGGATAAACTGCTCATCTCAAACCAGAGGCAATTAAGTGACAGAGGGTTCTCGATCCGACGACTCTCAGCTTTTGAC MAARAAAAAAAAAARARARAGSGERRAPPGPRPAPGARDLEAGARGAAAAAAAPGPMLGGGGDGGGGLNSVHHHPLLPRHELNMAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQDSGDATWKETFWLMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQSNPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQSPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNYSRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNMSSMTPSSPGMSQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLMASSSPYSQPMNNSSSLMNTQAPPYSMAPAMVNSSA|gfeipwaqetnerehlcpaieettrl* 11BR053 ENSG00000005339.15(575),ENSG00000262185.3(49518) ENSG00000090863.12 ./+ -/- chr16:3881288 chr16:74508925 intergenic CDS/splice-site inversion 4 1 0 7 74 high . . |Cysteine_rich_repeat(100%) . . . ENSG00000090863.12 . ENST00000205061.9 downstream downstream . CCTAGGTGGCGTCGGTCGGGAACGGTCGGGGCGACCCCAGCCCAGGCCGCGCCACTAGCCTTCGCCGCCGGCCAGGGAAGTGGAATGGCCTCTGCAGGTTACAGACCGCCCTTGGGTCCTGCCGACGAG|TTGTTGTGGAATTATAAGCTGAACCTAACTACAGATCCCAAATTTGAATCTGTGGCCAGAGAGGTTTGCAAATCTACTA(TAACAGAG___ATTAAAGAATGTGCTGATGAACCGGTTGGAAAAGGTTACATGGTTTCCTGCTTGGTGGATCACCGAGGCAACATCACTGAGTATCAGTGTCACCAGTACATTACCAAGATGACGGCCATCATTTTTAGTGATTACCGTTTAATCTGTGGCTTCATGGATGACTGCAAAAATGACATCAACATTCTGAAATGTGGCAGTATTCGGCTTGGAGAAAAG___GATGCACATTCACAAGGTGAGGTGGTATCATGCTTGGAGAAAGGCCTGGTGAAAGAAGCAGAAGAAAGAGAACCCAAGATTCAAGTTTCTGAACTCTGCAAGAAAGCCATTCTCCGGGTGGCTGAGCTGTCATCGGATGACTTTCACTTAGACCGGCATTTATATTTTGCTTGCCGAGATGATCGGGAGCGTTTTTGTGAAAAT___ACACAAGCTGGTGAGGGCAGAGTGTATAAGTGCCTCTTTAACCATAAATTTGAAGAATCCATGAGTGAAAAG___TGTCGAGAAGCACTTACAACCCGCCAAAAGCTGATTGCCCAGGATTATAAAGTCAGTTATTCATTGGCCAAATCCTGTAAAAGTGACTTGAAGAAATACCGGTGCAATGTGGAAAACCTTCCGCGATCGCGTGAAGCCAGGCTCTCCTACTTGTTAATGTGCCTGGAGTCAGCTGTACACAGAG___GGCGACAAGTCAGCAGTGAGTGCCAGGGGGAGATGCTGGATTACCGACGCATGTTGATGGAAGACTTTTCTCTGAGCCCTGAGATCATCCTAAGCTGTCGGGGGGAGATTGAACACCATTGTTCCGGATTACATCGAAAAGGGCGGACCCTACACTGTCTGATGAAAGTAGTTCGAGGGGAGAAGGGGAACCTTGGAATGAACTGCCAGCAGGCG___CTTCAAACACTGATTCAGGAGACTGACCCTGGTGCAGATTACCGCATTGATCGAGCTTTGAATGAAGCTTGTGAATCTGTAATCCAGACAGCCTGCAAACATATAAGATCTGGAGACCCAAT___GATCTTGTCGTGCCTGATGGAACATTTATACACAGAGAAGATGGTAGAAGACTGTGAACACCGTCTCTTAGAGCTGCAGTATTTCATCTCCCGGGATTGGAA___GCTGGACCCTGTCCTGTACCGCAAGTGCCAGGGAGACGCTTCTCGTCTTTGCCACACCCACGGTTGGAATGAGACCAGTGAATTTATGCCTCAGGGAGCTGTGTTCTCTTGTTTATACAGACACGCCTACCGCACTGAGGAACAGGGAAGGAGG___CTCTCACGGGAGTGCCGAGCTGAAGTCCAAAGGATCCTACACCAGCGTGCCATGGATGTCAAGCTGGATCCTGCCCTCCAGGATAAGTGCCTGATTGATCTGGGAAAATGGTGCAGTGAGAAAACAGAGACTGGACAG___GAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAG___GATATTCAAATAGAAGCCTTGCTGATGAGAGCCTGTGAGCCCATAATTCAGAACTTCTGCCAC___GATGTGGCAGATAACCAGATAGACTCTGGGGACCTGATGGAGTGTCTGATACAGAACAAACACCAGAAGGACATGAACGAGAAGTGTGCCATCGGAGTTACCCACTTCCAGCTG___GTGCAGATGAAGGATTTTCGGTTTTCTTACAAGTTTAAAATGGCCTGCAAGGAGGACGTGTTGAAGCTTTGCCCAAACATAAAAAAGAA___GGTGGACGTGGTGATCTGCCTGAGCACGACCGTGCGCAATGACACTCTGCAGGAAGCCAAGGAGCACAGGGTGTCCCTGAAGTGCCGCAGGCAGCTCCGTGTGGAGGAGCTGGAGATG___ACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAG___ATTATCGAATGTCTGAAAGAAAACAAGAAGCAGCTAAGCACCCGCTGCCACCAAAAAGTATTTAAGCTGCAGGAGACAGAGATGATGGACCCAGAGCTAGACTACACCCTCATGAGGGTCTGCAAGCAGATGATAAAG___AGGTTCTGTCCGGAAGCAGATTCTAAAACCATGTTGCAGTGCTTGAAGCAAAATAAAAACAGTGAATTGATGGATCCCAAATGCAAACAGATGATAACCAAGCGCCAGATCACCCAGAACACAG___ATTACCGCTTAAACCCCATGTTAAGAAAAGCCTGTAAAGCTGACATTCCTAAATTCTGTCACGGTATCCTGACTAAGGCCAAGGATGATTCAGAATTAGAAGGACAAGTCATCTCTTGCCTGAAGCTGAGATATGCTGACCAG___CGCCTGTCTTCAGACTGTGAAGACCAGATCCGAATCATTATCCAGGAGTCCGCCCTGGACTACCGCCTGGATCCTCAGCTCCAGCTGCACTGCTCAGACGAG___ATCTCCAGTCTATGTGCTGAAGAAGCAGCAGCCCAAGAGCAGACAGGTCAGGTGGAGGAGTGCCTCAAGGTCAACCTGCTCAAGATCAAAACAGAATTGTGTAAAAAG___GAAGTGCTAAACATGCTGAAGGAAAGCAAAGCAGACATCTTTGTTGACCCGGTACTTCATACTGCTTGTGCCCTGGACATTAAACACCACTGCGCAGCCATCACCCCTGGCCGCGGGCGTC___AAATGTCCTGTCTCATGGAAGCACTGGAGGATAAGCGGGTGAGGTTACAGCCCGAGTGCAAAAAGCGCCTCAATGACCGGATTGAGATGTGGAGTTACGCAGCAAAG___GTGGCCCCAGCAGATGGCTTCTCTGATCTTGCCATGCAAGTAATGACGTCTCCATCTAAGAACTACATTCTCTCTGTGATCAGTGGGAGCATCTGTATATTGTTCCTGATTGGCCTGATGTGTGGACGGATCACCAAGCGAGTGACACGAGAGCTCAAGGACAG___GCTACAATACAGGTCAGAGACAATGGCTTATAAAGGTTTAGTGTGGTCTCAGGATGTGACAGGCAGTCCAGCCTGACCTTTCTGCACACTCCAGACAAACTTCCCAGACAAGCTCCTTTGTGCCTCTACGTGGAGAGGGTGTGGAAAGTTATCACATTAAAAGATGGAGGATTTGCTCTGTTTTTTTTCTTTCTGTCCATTTGCTGCGTGTACCCACTCTAGTAGGCATTGGCTAAATGTTGTATTTTGGCGATTCATCAACCTTTGCAGAATATGGGCTTTATAGAAGCAATATTCTTGGCCATCCCGCCTCATTCCTCCAGTGTGGAGATGACAAGTCTGGGTGTGAGAGGGAGGGGTCCGGGCATCATGGTTCAGCGTGGCACTCCTTTGGTTGAGTTTGGGGCATGAGATCACAGTGGCTGCACAAGAGAGCAGTGTGTACAGTAGGAGAGACATTTATGTAATATATATTTTATTAACCTGTTAGATGTCCACAAAGTATTATAAATCACGTGCCTAAAACTGTCCATGTAGACCAAGGCCTGCCCTCGGCGCCCCCCACTCTTGCCTCTGCTCTGCACAGTCCACGTGCACTGCAGGACCGGAGCGACACATGTCTTCCCTGAAGGGTGTTCAGTACAAGGCGTGTCAGTTTGTGGATCAGTTGATCCAAGTTACTCCTTGTCTAACCTGACTGACATATATTTGAATACTGTGGTTTTCTTTCTTTTTTTTCTATTTGCTGCCCTTCCTGGAGGCAGTGGGTTCCAGAAGCCAACTGATTGTCCCCCTGCCAAGTCACCAAGGGAAGCTGCTAAGCTGCTTAGTCCCCTCGGTCCTGCTTGTAGGGTCTTCCTGATTGTCAACAGCTGTCTGGGATGCTTCAGTCTCCTAAAACTGGAAACGCAGGGTGCGAGCAGCACACACTGCCTCCCGCCACTGCCAGCCGGAGTGAGCGGCCCGAGAGTCTCTGCAGGTTCCCCTGGGGGCTGGGGGCCGCTGAGGCCTAATATCAAGAGCCAGGAATGTCATGTACATGGAGGTGCCTACGGACGTGCCTGGTGTGGTTTGCAGGTAGGATGGATGTTCACTGTTTGACCGGGTGGGGTATCCTTCCTCTCTGCAGTCTCCTTCCCAGTATGCGTAAACACCCTTATAGTTCTAATTGTGTTGATATTTCTGTTCTTTCTGAATTGAGAGAAAATCCCATTCGTTGTCTGCAGATTTGGAAGTTTGATGAGGAATTTGGTTCTTGAAACATCTGTCTTTTTTTTTTTTTTTGAGACAGAGTATCTCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTCAGCTCCCTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTCCAGGCACCCGCCACCACGCCTGGCTTATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGATCTCATGATCCACCCGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCTGCCTGGCCAAAACATTTGTCATCTTTATAAATGGTCAGAATAGAAAAGTTAGCTCTGCCAGTATCTTCAATTACTTATTACAAGAATGTCTTTCATCATCTTACTTGGAGCATTTTCCAATGACTGGCTCTTGAGAGCCCCAGGCAGGGCCCCGAGCAAGTTTTTCTAAGTGCCAAGGCCAGCAAAGTCTGAACTGGCCGCACTCATTAAGTCCCTCATTTGGCAAAACAAAACAGGGCCTGGGGCACCCCTGGTTCCTGGCCTTATAGGTCAGTCAACTGGCTGAGAAATGGTCAAGAAAAGAAACAATGACCCTTCTGTGGATGTGAGTGGATGATGGACTCTGGCCTGTGTCTACTCTCCTGATGTGTAGCCCACCAACAGTAATAGAAGTAGAGGGTAGGGGGTTTTGCCAAGGCTAAGGCTTCAGGTACTTGCTAACAGTTATAGCAGCTGGGTCACTGTCATCTGGACTTACCAGTTCATGCCAGTGTCCCTGTGACTTATGCATAGTGTGCGCCACAGCCCTCTAGAGGTACCTGGAGCCCGGACTGCCAGGCTGGAGGCTCTGGGGTACTGAAGGTGAGCTGTCTGGGCAAACTATTAAGAACAAGACGAACTGTTCACAATGGAGCTTCTCCCACAGATGGGGAGCTCTGTGAGGCCTTCACCTGGGTGCATGTTGGACTTCCATTGCTGTTGCTGTTGTCCCTAGACAAGCCCGTTAGCAAGAAGCACCGGCAGGGGAGCCATGCACTCCATAGGCTTGGGATCACCCCCGGGAAAGCGATCTTCCCCGGGCTACCACCCCCAGCTGCAGTTCTGTGTTAGTGCATCCTTCAAAGCTAGGAGAATTCTAGGGTGACCAGTGAGCTAATGTTGAGTGAGCAGGTATTGACTTGAACACACTGCAGGCCTTTGGCTGTCTCATGCTGTCCTTACTCTTCTTGGGAACAGTGAGTCACTCAGCTGGCCAGGGTGGGGATGCATCCTGGTGAAGAGACAGCTTTCCCTGAAGATGCTACAGAAAGTTACTGTCAGATTTCATTTGTTTCTGTTTCCTGAGATCAACTAACAGAAGAATCTAATGGTGAGAGTGTCTTCATTCATGTTTTACGTTTTATCAAGGCACACTGGAAAGGGAATTATGTGGCTGACTTCCCTTGGCCTTCCCAAGAGAAGATTCTGTTCTTATGTCAGTGTGGCTTCTGGAAGTGTCTCCTATCCTCCCATCCTCCAGGCCTGTGGTGTGACTTCTGCCCCGAAGTTCCTACTATAGTGAGTCATCTGGGGAGAGGCCACTGAAAAGAGGCCTTCCCTTCCCATTTCCTCCCCTGCCTCCTTAGAACACACTCTAAGTCAGAACTTAATCTAAGAAGAAGGAAGCTGGACCAGGAACCTTGGAAGTCAGCCAGCCCTAGAACAGTCAGCCTAAATTTTGGCCGTAATGGCTTTTTTGGTTTTTTGTTTTGTTTCTGAGATGGAGTCTCACTCCGTTGCCAGGCTGGAGTGCTGTGGCGCTATCTCAGCTTACCGAATCCTCCGACTCCCTGGTTCAAGCGATTGTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGTCCAGGATGGTCTCCATCTCCTGACCTCATGATGTGCCCACTTCGGCCTTCCAAAGTGGCCGCAAAGTGGCCCACTTCGGCCAAAGTGCACTTCGGCCTTCCAAAGTGCATTACAGGCGTGAGCCACCACGCCCGGCCTGGCCTTTTTTTTTTTTTTCTTTTGAGACACAGTTTCACTCGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACTTCTGCCTCCTAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACGGGCATGCACCACCATGCCTGGATAATTTTTTCTTATTTTTAGTAGAGACAGGATTTCATCATGTTGGCCACGCTGGTTTCGAACTCCTGACCACATGTGGTCCACCCACCTTGGCCTCAATTATGTGCATTTTGGTATATTTACTTGTATTTCAACATCTTGTGAGTTTGAAAAACCTGAAAGGCCAGAATGCTTCCTTTTATTTCTCACCATTTGGGCAGCACCTAAGTGGTTTTGTAAAATGCAGCATCTGGTGCTGTGGGTCTCTCTCAGGCCTTGAGGGACACTTCCTTCCTCCCCACTCGCCTCCTCTCCACTAGACTTTGGTTCCTAGAGGGCGTGGGGCCGGGTCTGAGGTTCTTGCCTGCCTTCCCTCCCATTGGTCTTTGGTTGCTCATCCCTCTAACTGCACCCCTTCTTGGTCCTTCCTCCACAGACTTCAGATAATAGATAAGTCATTAGCAAACCAGACCGAATCTTTAGGGTGAAGAGCTCCCCAAAGCCATCTGGTGAGGTCATTGTGGGGACCAGGGACTGATTATTTGTCACCTGGATCACAAAGATGGGACTGTCTGCTCAGGCTGGTGGTGACAGGATCCTGACCCGTGGTCCTCTCCCGCTCCCTCTGCTCCACCAGGACACATGTATAGGACACTGTGCTGTGTGCAGTGGAGAAATCTCCCTGGGCCAGGGGAAAGTTCAGACAGTGCCTCTAGATTGTGTTTTGCCTCCTCCAATGTAGAGTTGACATCTGGACCCCAGAGCCCAGCAGGGCTTTCTGTCAGACATGCTAGGGTGGTAGAAATGGGCCCTCCAGGTCCCCCTGCAGTGCACTGGGCAGAGACCTCCGGAAAGCCGGCAGCGGGAGCGCTTCCTGGGCAGCTTCCCCCAGCACAGTGTTCCCAAACCAGTCCATCCGGAAAACAGTCTGTACAGCAAATGCTGTGTGAGATCTTAGGCTTTTCACTTTTTTTGTTTTGTTTTGTTTTTGAAAGAAAGAAAAAAATACAATTAACAAGCCTCTTTTGTAAATGGGTTTCCTTTCTATGTATAAAATCGTGGTGGTCCCTTGTTTTTACATGTTCATGCTGTGTAATTTTGAGATGTTACTGAGATATGTTCTGAACATAATGTGCATTTTTTTCTGTACAGATGAAATGGGAGAATTTAATAAAGAGTTTGCAGGTTTTTACTTGTTAAA)$ . 11BR053 ENSG00000103148.16 ENSG00000166743.9 -/- -/+ chr16:92596 chr16:20645362 CDS/splice-site intron inversion/5'-5' 2 3 0 117 34 high out-of-frame . . . . ENSG00000103148.16 ENSG00000166743.9 ENST00000620134.4 . upstream upstream . ^(TTCCCATCCGCACCAGCAAGAGGGGCCCCTGTGCCCCAAACGCGAACCGTACGGCTCCAGACAGCACCGCGGAACTCGGTGGCTTCCAGAAGGCCCCGCGCCTGCGCATTCCGCTGCCTGCGCCTGCGCCTGCGCCTGCGCCGTTCTCCCGGCCGCCGCCTTAGCACCTCCTCCGGACGGTGTCGCCGAAGTCTCGCGAGCCCGGAGCGTGGCACGTGG___GCCCCCTCCGCCTCCGGCTCCGTCCTCCTCTGGCCCCCTCCGCCCCCGGCCCCGGCCCCACGGCGGGATGCGGGACAACACCAGCCCCATCAGCGTGATTCTGGTGAGCTCGGGGAGCAGGGGCAATAAGCTGCTGTTCAGGTACCCCTTCCAGAGAAGCCAGGAGCACCCGGCGTCCCAGACAA___GTAAGCCGCGTAGCAGATACGCTGCCAGCAACACGGGCGACCATGCTGATGAGCAGGACGGCGATTCCAG___GTTTTCAGATGTTATTCTGGCAACAATTTTGGCAACCAAGTCTGAAATGTGTGGCCAAAAATTTGAACTGAAGATTGATAATGTGCGATTTGTTGGGCACCCAACACTGCTACAGCATGCTCTGGGGCAG___ATCTCCAAAACAGATCCTTCCCCGAAGAGGGAAGCACCTACTATGATTCTTTTTAATGTGGTGTTTGCACTGAGG___GCCAACGCAGACCCGTCAGTGATAAACTGTCTGCATAACCTGTCCCGTCGTATCGCCACCGTGCTGCAGCACGAGGAGCGCCGCTGCCAGTACCTCACCCGGGAGGCCAAGCTGATCCTGGCGCTCCAGGATGAGGTGTCCGCCATGGCTGATG___GAAATGAAGGTCCTCAGTCCCCATTCCATCACATCCTGCCCAAGTGCAAGCTGGCCAGGGACCTCAAGGAAGCTTATGACAG___CCTGTGCACGTCGGGCGTAGTTCGGCTTCACATCAACAGCTGGCTGGAGGTGAGCTTCTGCCTGCCCCACAAGATCCACTATGCGGCCTCCAGTCTGATCCCCCCAGAGGCCATCGAACGGAGCCTGAAAGCCATCCG___CCCCTACCATGCCCTGCTGCTGCTCAGTGATGAGAAGTCCTTGCTGGGTGAGCTTCCTATTGACTGCTCCCCTGCCCTAGTGCGGGTGATCAAGACCACATCTGCTGTGAAGAACCTGCAGCAGCTAGCCCAAGATGCGGACCTGGCCTTGCTGCAG___GTTTTCCAGCTTGCAGCTCATCTGGTGTACTGGGGCAAGGCCATCATCATCTACCCGCTGTGTGAGAACAACGTCTACATG)CTGTCTCCCAATGCCAGCGTATGTCT___GTACTCCCCGCTGGCCGAGCAGTTCTCCCACCAGTTCCCATCTCATGACCTGCCGTCCGTTCTTGCCAAGTTCTCCTTGCCGGTCTCCTTGTCAGAATTTAGGAATCCCCTGGCCCCCGCTGTGCAGGAG|ATGGGAAACGTTCCCCCCAAGGCAAAAACACCCCTAAGATGTATTCTGGAGAATTCAGGCCAGTCAGAGT___GTGACAATCAGGTGCCTATGTGGGTGCCCACCAAACATCTGAAGATCTATCATGAGCCACAGCATATAGTGGACCCAAACTGAAG___GAGATAAATGAACCATGTGGATGCCCTCAAGATGTGCATGACCATGGAATGGGAGACTGGAGGGACACTTGGATTAAAACCTTGGAC MRDNTSPISVILVSSGSRGNKLLFRYPFQRSQEHPASQTSKPRSRYAASNTGDHADEQDGDSRFSDVILATILATKSEMCGQKFELKIDNVRFVGHPTLLQHALGQISKTDPSPKREAPTMILFNVVFALRANADPSVINCLHNLSRRIATVLQHEERRCQYLTREAKLILALQDEVSAMADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNASVCLYSPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQE|mgnvppkaktplrcilensgqsecdnqvpmwvptkhlkiyhepqhivdpn* 11BR053 ENSG00000162104.10 ENSG00000140632.17 -/- -/- chr16:4113750 chr16:4846210 CDS/splice-site CDS/splice-site duplication 1 3 1 43 263 high out-of-frame . Adenylate_and_Guanylate_cyclase_catalytic_domain(100%)|NAD-binding_of_NADP-dependent_3-hydroxyisobutyrate_dehydrogenase(100%),NAD_binding_domain_of_6-phosphogluconate_dehydrogenase(100%),PWWP_domain(100%) . . ENSG00000162104.10 ENSG00000140632.17 ENST00000294016.8 ENST00000321919.14 upstream downstream . ^(AGTGACAGCGGGCGGGGCAGGGGCCGGAGATGGTGGCGGCGGCAGCTCTTCCGACATGAGGCAGCGGCCGCGGGGGACACGGCGGCGGGCGCGGCGGCGGCCGCATCTCTAGCTCGGGGAGGCGGCCCCCGGCGTGGGCGCGGGCGGGCGGGCGTCCCGGCCGGCGTCGCGGGAGCCCGGCTCTGCGGCAGCGTCTGCACCGCCGCCCGGCGAGGGGCCCGCGTCCGTGGTTCCACGCGCTCGGTCCCGGGACAGCTGCGGCCGCGGCGGGAGCGGCGGCGCACTCGGGGGGAAGCAGGCCCCACTAGACGGGCCGCGCCGACGGGCTCCGCGCACTCGCAGCCCGGGGCGCCCCCACCCCCAGCGCCCGCCGCCGCGGGCAGGGCCGGCCCGGAGCGCGGGGGGCGGCCGGGGAGCGCGAGCCGGGGGCGCCCGCCGAAGCTCGCTGCTCCGGGTCGGGGTCCGGGCCCGGGGCCGGCCGCGCGCCGCCTTTGACGCATCGGAGCGCGGCTCCTGCAGGATGGAGGGCTCCGCGCCGCCAGCGGAGTTGTTTGTGCGCAGGCGGCTCGCGGGGCTGGGAGCGCTCAAGGTCTGAACTTCCCTCCGGAGCCGCAGCTGGAGGAGGCGAGCGCGCGAGGAGGAGAAGCCGCGCGGCGCGGAGGCCACCCTCGGGGCGAGAGGCGCGGAAGGCGAGCGAGCAAAGCGGTCCCGGAGCCACGGCGGCCACGCGGCGGGGACCCCCGGGCGTTCTAG___GTACTGGTGACCCCGGCCGGGGCAGGCCCCGGGACTCGACAACATGGCTTCCCCACCCCACCAGCAGCTGCTGCATCACCACAGCACCGAGGTGAGCTGCGACTCCAGCGGGGACAGCAACAGCGTGCGCGTCAAGATCAACCCCAAGCAGCTGTCCTCCAACAGCCACCCCAAGCACTGCAAATACAGCATCTCCTCTAGCTGCAGCAGCTCTGGGGACTCCGGGGGCGTCCCCCGGCGAGTGGGCGGCGGAGGCCGGCTGCGCAGGCAGAAGAAGCTGCCCCAGCTGTTCGAGAGGGCCTCCAGCCGCTGGTGGGACCCCAAGTTCGACTCGGTGAACCTGGAGGAGGCCTGCCTGGAGCGCTGCTTCCCGCAGACCCAGCGCCGGTTCCGGTATGCGCTCTTCTACATCGGCTTCGCCTGCCTTCTGTGGAGCATCTATTTTGCGGTCCACATGAGATCCAGACTGATCGTCATGGTCGCCCCCGCGCTGTGCTTCCTCCTGGTGTGTGTGGGCTTCTTTCTGTTTACCTTCACCAAGCTGTACGCCCGGCATTACGCGTGGACCTCGCTGGCTCTCACCCTGCTGGTGTTCGCCCTGACCCTGGCTGCGCAGTTCCAGGTCTTGACGCCTGTCTCAGGACGCGGCGACAGCTCCAACCTTACGGCCACAGCCCGGCCCACAGATACTTGCTTATCTCAAGTGGGGAGCTTCTCCATGTGCATCGAAGTGCTCTTTTTGCTCTATACCGTCATGCACTTACCTTTGTACCTGAGTTTGTGTCTGGGGGTGGCCTACTCTGTCCTTTTCGAGACCTTTGGCTACCATTTCCGGGATGAAGCCTGCTTCCCCTCGCCCGGAGCCGGGGCCCTGCACTGGGAGCTGCTGAGCAGGGGGCTGCTCCACGGCTGCATCCACGCCATCGGGGTCCACCTGTTCGTCATGTCCCAGGTGAGGTCCAGGAGCACCTTCCTCAAGGTGGGGCAATCCATTATGCACGGGAAGGACCTGGAAGTGGAAAAAGCCCTCAAAGAGAGGATGATTCATTCCGTGATGCCAAGAATCATAGCCGATGACTTAATGAAGCAGGGAGATGAGGAGAGTGAGAATTCTGTCAAGAGGCATGCCACCTCGAGCCCCAAGAACAGGAAGAAAAAGTCTTCCATCCAAAAAGCTCCTATAGCCTTCCGCCCTTTTAAGATGCAGCAGATCGAAGAAGTCAGTATTTTATTTGCAGATATCGTGGGCTTCACCAAGATGAGTGCCAACAAGTCTGCCCACGCCCTGGTGGGTCTCCTGAACGATCTGTTCGGTCGCTTCGACCGCCTGTGTGAGGAGACCAAGTGTGAGAAAATCAGCACCCTGGGAGACTGTTACTACTGCGTGGCGGGCTGTCCCGAGCCCCGGGCCGACCATGCCTACTGCTGCATCGAGATGGGCCTGGGCATGATCAAGGCCATCGAGCAGTTCTGCCAGGAGAAGAAGGAGATGGTGAACATGAGAGTCGGGGTGCACACGGGCACCGTCCTTTGCGGCATCCTGGGCATGAGGAGGTTTAAATTTGACGTGTGGTCCAACGATGTGA)ACCTGGCCAATCTCATGGAGCAGCTGGGAGTGGCCGGCAAAGTTCACATTTCTGAGGCCACCGCAAAATACTTAGATGACCGGTACGAAATGGAAGATGGGAAAGTTATTGAACGGCTGGGCCAGAGCGTGGTTGCTGACCAGTTGAAAG|GGGGAAACTCGGCCGATATCCTCCTTGGCCAGGAAAG___ATTGTTAATCCACCAAAGGACTTGAAGAAACCTCGCGGAAAGAAATGCTTCTTTGTGAAATTTTTTGGAACAGAAGATCA___TGCCTGGATCAAAGTGGAACAGCTGAAGCCATATCATGCTCATAAAGAGGAAATGATAAAAATTAACAAGGGTAAACGATTCCAGCAAGCGGTAG(ATGCTGTCGAAGAGTTCCTCAGGAGAGCCAAAGGGAAAGACCAG___ACGTCATCCCACAATTCTTCTGATGACAAGAATCGACGTAATTCCAGTGAGGAGAGAAGTAGGCCAAACTCAGGTGATGAGAAGCGCAAACTTAGCCTGTCTGAAGGGAAGGTGAAGAAGAACATGGGAGAAGGAAAGAAGAGGGTGTCTTCAGGCTCTTCAGAGAGAGGCTCCAAATCCCCTCTGAAAAGAGCCCAAGAGCAAAGTCCCCGGAAGCGGGGTCGGCCCCCAAAGGATGAGAAG___GATCTCACCATCCCGGAGTCTAGTACCGTGAAGGGGATGATGGCCGGACCGATGGCCGCGTTTAAATGGCAGCCAACCGCAAGCGAG___CCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAG___CCAGCTGTCTGTTACCAGGCAATCACGAAGAAGTTGAAAATATGTGAAGAG___GAAACTGGCTCCACCTCCATCCAGGCAGCTGACAGCACAGCCGTGAATGGCAGCATCACACCCACAGACAAAAA___GATAGGATTTTTGGGCCTTGGTCTCATGGGAAGTGGAATCGTCTCCAACTTGCTAAAAATGGGTCACACAGTGACTGTCTGGAACCGCACTGCAGAGAAA___TGTGATTTGTTCATCCAGGAGGGGGCCCGTCTGGGAAGAACCCCCGCTGAAGTCGTCTCAACCTGCGACATCACTTTCGCCTGCGTGTCGGATCCCAAGGCGGCCAAGGAC___CTGGTGCTGGGCCCCAGTGGTGTGCTGCAAGGGATCCGCCCTGGGAAGTGCTACGTGGACATGTCAACAGTGGACGCTGACACCGTCACTGAGCTGGCCCAG___GTGATTGTGTCCAGGGGGGGGCGCTTTCTGGAAGCCCCCGTCTCAGGGAATCAGCAGCTGTCTAATGACGGGATGTTGGTGATCTTAGCGGCTGGAGACAGGGGCTTATATGAGGACTGCAGCAGCTGCTTCCAGGCGATGGGGAAGACCTCCTTCTTCCTAG___GTGAAGTGGGCAATGCAGCCAAGATGATGCTGATCGTGAACATGGTCCAAGGGAGCTTCATGGCCACTATTGCCGAGGGGCTGACCCTGGCCCAGGTGACAGGCCAGTCCCAGCAGACACTCTTGGACATCCTCAATCAGGGACAGTTGGCCAGCATCTTCCTGGACCAGAAGTGCCAAA___ATATCCTGCAAGGAAACTTTAAGCCTGATTTCTACCTGAAATACATTCAGAAGGATCTCCGCTTAGCCATTGCGCTGGGTGATGCGGTCAACCATCCGACTCCCATGGCAGCTGCAGCAAATGAG___GTGTACAAAAGAGCCAAGGCGCTGGACCAGTCTGACAACGATATGTCCGCCGTGTACCGAGCCTACATACACTAAGCTGTCGACACCCCGCCCTCACCCCTCCAATCCCCCCTCTGACCCCCTCTTCCTCACATGGGGTCGGGGGCCTGGGAGTTCATTCTGGACCAGCCCACCTATCTCCATTTCCTTTTATACAGACTTTGAGACTTGCCATCAGCACAGCACACAGCAGCACCCTTCCCCTGAGGCCGGTGGGGAGGGGACAAGTGTCAGCAGGATTGGCGTGTGGGAAAGCTCTTGAGCTGGGCACTGGCCCCCCGGACGAGGTGGCTGTGTGTTCACACACACACACACACACACACACACACACACACACAGGCTCTCGCCCCAGGATAGAAGCTGCCCAGAAACTGCTGCCTGGCTTTTTTTCTTCCGAGCTTGTCTTATCTCAAACCCCTTCCAGTCAAGGAACTAGAATCAGCAACGAGAGTTGGAAGCCTTCCCACAGCTTCCCCCAGAGCGAAGAGGCTGTAGTCATGTCCCCATCCCCCACTGGATTCCCTACAAGGAGAGGCCTTGGGCCCAGATGAGCCAGTACAGACTCCAGACAGAGGGGCCCTTGGGGCCCTCCAACCTCAGGTGATGAGCTGAGAAAGATGTTCACGTCTAAGCGTCCAGTGTGCACCCAGCGCTCCATAGACGCCTTTGTGAACTGAAAAGAGACTGGCAGAGTCCCGAGAAGATGGGGCCCTGGCTTTCCAGGGAGTGCAGCAAGCAGCCGGCCTGCAGGTGAGCATGGAGGCCCGGCCCTCACCGCCTCGAAGCCATGCCCCAGATGCCACTGCCACAGCGGGCGCTCGCTCCTCCCTAGGCTGTTTTAGTATTTGGATTTGCATTCCATCCCTTGGGAGGGAGTCCTCAGGGCCACTAGTGATGAGCCAAGAGGAGTGGGGGTTGGGGGCGCTCCTTTCTGTTTCCGTTAGGCCACAGACTCTTCACCTGGCTCTGAAGAGCCACTCTTACCTCGGTCCCCTCCCAGTGGTCCCACCTTCTCCACCCTGCCCTGCCAAGTCCCCTGCATGCCCACCGCTCTCCATCCTCCCTCCTCTCCCTCTTCCTCCCGTGGAGACAGTATTTCTTTCTGTCTGTCCCTTTGGCCCAGACCCAGCCTGACCAACGATGAGCATTTCTTAGGCTCAGCTCTTGATACGGAAACGAGTGTCTTCACTCCAGCCAGCATCATGGTCTTCGGTGCTTCCCGGGCCCGGGGTCTGTCGGGAGGGAAGAGAACTGGGCCTGACCTACCTGAACTGACTGGCCCTCCGAGGTGGGTCTGGGACATCCTAGAGGCCCTACATTTGTCCTTGGATAGGGGACCGGGGGGGGCTTGGAATGTTGCAAAAAAAAAAGTTACCCAAGGGATGTCAGTTTTTTATCCCTCTGCATGGGTTGGATTTTCCAAAATCATAATTTGCAGAAGGAAGGCCAGCATTTACGATGCAATATGTAATTATATATAGGGTGGCCACACTAGGGCGGGGTCCTTCCCCCCTCACAGCTTTGGCCCCTTTCAGAGATTAGAAACTGGGTTAGAGGATTGCAGAAGACGAGTGGGGGGAGGGCAGGGAAGATGCCTGTCGGGTTTTTAGCACAGTTCATTTCACTGGGATTTTGAAGCATTTCTGTCTGAACACAAAGCCTGTTCTAGTCCTGGCGGAACACACTGGGGGTGGGGGCGGGGGAAGATGCGGTAATGAAACCGGTTAGTCAATTTTGTCTTAATATTGTTGACAATTCTGTAAAGTTCCTTTTTATGAATATTTCTGTTTAAGCTATTTCACCTTTCTTTTGAAATCCTTCCCTTTTAAGGAGAAAATGTGACACTTGTGAAAAAGCTTGTAAGAAAGCCCCTCCCTTTTTTCTTTAAACCTTTAAATGACAAATCTAGGTAATTAAGGTTGTGAATTTTTATTTTTGCTTTGTTTTTAATGAACATTTGTCTTTCAGAATAGGATTGTGTGATAATGTTTAAATGGCAAAAACAAAACATGATTTTGTGCAATTAACAAAGCTACTGCAAGAAAAATAAAACACTTCTTGGTAACACA)$ MASPPHQQLLHHHSTEVSCDSSGDSNSVRVKINPKQLSSNSHPKHCKYSISSSCSSSGDSGGVPRRVGGGGRLRRQKKLPQLFERASSRWWDPKFDSVNLEEACLERCFPQTQRRFRYALFYIGFACLLWSIYFAVHMRSRLIVMVAPALCFLLVCVGFFLFTFTKLYARHYAWTSLALTLLVFALTLAAQFQVLTPVSGRGDSSNLTATARPTDTCLSQVGSFSMCIEVLFLLYTVMHLPLYLSLCLGVAYSVLFETFGYHFRDEACFPSPGAGALHWELLSRGLLHGCIHAIGVHLFVMSQVRSRSTFLKVGQSIMHGKDLEVEKALKERMIHSVMPRIIADDLMKQGDEESENSVKRHATSSPKNRKKKSSIQKAPIAFRPFKMQQIEEVSILFADIVGFTKMSANKSAHALVGLLNDLFGRFDRLCEETKCEKISTLGDCYYCVAGCPEPRADHAYCCIEMGLGMIKAIEQFCQEKKEMVNMRVGVHTGTVLCGILGMRRFKFDVWSNDVNLANLMEQLGVAGKVHISEATAKYLDDRYEMEDGKVIERLGQSVVADQLK|ggnsadillgqerllihqrt* 11BR053 ENSG00000134061.5(17778),ENSG00000251206.1(53445) ENSG00000249364.6 ./+ +/+ chr5:67214577 chr5:67619791 intergenic exon/splice-site deletion 2 2 0 10 12 high . . . . . . ENSG00000249364.6 . ENST00000668508.1 downstream upstream . GGACATCATCTGACATATTTTAAAAGTATCTCTCCGGCTCCCTTGTGGACTGaAAGGGACCAAGAGTTGAAACAGGCACCCAGGAGGAGTCCTTCCAGCAACTGAG|GGGTAAAAGCTGACTTGGCAGAAGCTGTCTGATACTGTGGGTCATCCTGACCTTGAGACTGCGCAACGTGCCCTGGCAGATTCAGAGTGTGTCCTGCTAGAACCCATGTGCTGGACTCATTTCCA___GAAACTTTCTGAGAT(GCAAGTGGGTGTTAAATGGTTCAGCAAAGCCAAGCCAGAGCAGTTGGTGTGCTTTGAAATGAAGCAACATTGGAAAAATGAAATCTACTGAAAGATCACTACGTGTTTCAAAG___AACTGACTAGAACCAGAACTCTTCAGAAAAGAATGTGCTAAAGGTTTGTCCTTGAGAAGTTTCCAAGCCAAGACACTCCTAGGAGCACTTCCCATTGAGGCCGAAAGGCTCATCCACTTACAGCGATTCATGGGAAAAGAGGACAGCACCCTCATCTTTGGTCCAAGAACACAATCCTGAGTGACACAGGATTGCCCTGAAAGTCAACAGCATCCGTCTTACAAAAATCAACAACACTCGCTTTTCAAACTTCCAAAGAATTTACTGGTCTGGTTTGGCCTTTTGGTGCCACATTCCATTCCAGAACCCCAGCTAAAATGTTCTCAAGGGCTGACCAGAGATTCCTCCTCCTTTCTCTGGGCTGGTACAACTTGACCGCTGCTTGACATCAAGGTCAACTGGAGACTGGGAACAGTTATGTAACTGTGTTGTAAATTGAATTAGAGCTGTACATGAGCCCAGACCAAGTAACCAGTGCAGCTCCAGGCAAGAGCAGCAACATGTCCCCCAGAGACAGCATTGGAGGAACAGCTTACTGGGGAATGGAAAAAGGGTATCACAGGGTAAAAAAGAAACCGTCTCTTTCCAGTCCTTCTAAAGTCTGGGCAGTTGGCTGCCCCATCACATGTGGAATAAGAGGGGGGCATTAAGTGCAGAGGGAGCTGGTGTCAGTATGGCAGGCAAACACTGAGGAAAAATCAGCATACATAGTATACACAAAGAGAATGAGAAAAAAATATTTGTAACACCAGAACAGACACCACCCAGATGAAAGAAATAAGAAGGCTTACACGTGGAGAGGAAAAAAGCCTCTGGCAGTGGTCAGTGGACTGTAGAATGAGCAAGAAAGGCATGACCATCCTCCTACCAGTGACTGGTCATTCTGGAGAGGATACATGTGCACAGATCTGGAAAACCAGGGCTGAAAAGCCTTTTGACACCTTTGGTGACCTAGGACATGGTCCCCCAATGTAAGACATCATGCTAGATAGAGGGGAAAATAGTAAGTTTTCTTCAAAGGCAAATGAATACAACTTGAGATAACTTTTGAAAAGAAAAAAGGTACTGGGACCATGGCATGACTTTGATCTGTGCTAACATGACCGCCTGCAGAAGCAGATGAGGAGAGGCAGAATAATGTAAAGCTGAAAGCTTGGAGTCACCAAACCATAGATAGCTTCACCTCTTACCAAGTGCTTGATGTGTGGCTAGGTTCTTAAATCCCCTACAAGTTCCAGCTTCCTCATCTGTAAAAAACGAGCAAGTTAAGACTGGGTGAGTTAATAGATGTAAAAGTACTTAGTACAGTACTCTACAAATAGTAAGTGCCCAATAAATGTTAACTGTTATTATTATGTATTCTGTCCTTCACTATGTTAGGCCCTGGGATGTAGTGGTGACAGGCAAGGCTGCTGCTCTTGTGGTTCTTACATGAAACAAGGGAACAGGGAAATAAACAAAATAAATGCAGACTATGAAAAGTGCTAAAGAATAAATAAA)$ . 11BR053 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 3 1 0 140 12 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGAC)TGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAA--CAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCA(CCAGTGTCAAG___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 11BR053 ENSG00000049618.24 ENSG00000217085.2(61196),ENSG00000112038.18(10313) +/+ ./- chr6:157167185 chr6:154000188 CDS/splice-site intergenic inversion 2 2 0 60 4 high out-of-frame . . . . ENSG00000049618.24 . ENST00000346085.10 . downstream downstream . ^(CACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACC___TTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCGGCGGGCCGCGTGGATGCGCACAGGAGGGGCCGCGGCCTGAAAAGTGGGGGTTATTGTCTCCCCCCGCCCCCCGCCCGGCCTCGCCACGCCGCGGCGATCATGGCCGCGCGGGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGCGGGCGCGGGCGCGGGCAGGCAGCGGCGAACGGCGGGCGCCCCCCGGGCCGCGGCCGGCGCCCGGAGCCCGGGACCTGGAGGCGGGGGCGCGCGGCGCGGCGGCGGCGGCGGCGGCACCGGGACCCATGCTGGGGGGCGGCGGCGACGGCGGCGGCGGCCTGAACAGTGTGCACCACCACCCCCTGCTCCCCCGTCACGAACTCAACATGGCCCATAACGCGGGCGCCGCGGCCGCCGCCGGCACCCACAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGGGTGGAAGCGCCGCCGCGCTGTCCTCCTCCTCCTCCTCCTCCGCGGCGGCAGCGGCGGCATCCTCTTCCTCCTCGTCGGGCCCGGGCTCGGCCATGGAGACGGGGCTGCTCCCCAACCACAAACTGAAAACCGTTGGCGAAGCCCCCGCCGCGCCGCCCCACCAGCAGCACCACCACCACCACCATGCCCACCACCACCACCACCATGCCCACCACCTCCACCACCACCACGCACTACAGCAGCAGCTAAACCAGTTCCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACATCCCATTTCCAACAACAACAGCTTGGGCGGCGCGGGCGGCGGCGCGCCTCAGCCCGGCCCCGACATGGAGCAGCCGCAACATGGAGGCGCCAAGGACAGTGCTGCGGGCGGCCAGGCCGACCCCCCGGGCCCGCCGCTGCTGAGCAAGCCGGGCGACGAGGACGACGCGCCGCCCAAGATGGGGGAGCCGGCGGGCGGCCGCTACGAGCACCCGGGCTTGGGCGCCCTGGGCACGCAGCAGCCGCCGGTCGCCGTGCCCGGGGGCGGCGGCGGCCCGGCGGCCGTCCCGGAGTTTAATAATTACTATGGCAGCGCTGCCCCTGCGAGCGGCGGCCCCGGCGGCCGCGCTGGGCCTTGCTTTGATCAACATGGCGGACAACAAAGCCCCGGGATGGGGATGATGCACTCCGCCTCCGCCGCCGCCGCCGGGGCCCCCGGCAGCATGGACCCCCTGCAGAACTCCCACGAAGGGTACCCCAACAGCCAGTGCAACCATTATCCGGGCTACAGCCGGCCCGGCGCGGGCGGCGGCGGCGGCGGCGGCGGCGGAGGAGGAGGAGGCAGCGGAGGAGGAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGAGCAGGAGCGGGAGCTGTGGCGGCGGCGGCCGCGGCGGCGGCGGCAGCAGCAGGAGGCGGCGGCGGCGGCGGCTATGGGGGCTCGTCCGCGGGGTACGGGGTGCTGAGCTCCCCCCGGCAGCAGGGCGGCGGCATGATGATGGGCCCCGGGGGCGGCGGGGCCGCGAGCCTCAGCAAGGCGGCCGCCGGCTCGGCGGCGGGGGGCTTCCAGCGCTTCGCCGGCCAGAACCAGCACCCGTCGGGGGCCACCCCGACCCTCAATCAGCTGCTCACCTCGCCCAGCCCCATGATGCGGAGCTACGGCGGCAGCTACCCCGAGTACAGCAGCCCCAGCGCGCCGCCGCCGCCGCCGTCGCAGCCCCAGTCCCAGGCGGCGGCGGCGGGGGCGGCGGCGGGCGGCCAGCAGGCGGCCGCGGGCATGGGCTTGGGCAAGGACATGGGCGCCCAGTACGCCGCTGCCAGCCCGGCCTGGGCGGCCGCGCAACAAAGGAGTCACCCGGCGATGAGCCCCGGCACCCCCGGACCGACCATGGGCAGATCCCAG___GGCAGCCCAATGGATCCAATGGTGATGAAGAGACCTCAGTTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAGCAGAGCAGTCCGTACCCAGGAGGTTCCTATGGCCCTCCAGGCCCACAGCGGTATCCAATTGGCATCCAGGGTCGGACTCCCGGGGCCATGGCCGGAATGCAGTACCCTCAGCAGCAG___GACTCTGGAGATGCCACATGGAAAGAAACATTCTGGTTG___ATGCCACCTCAGTATGGACAGCAAGGTGTGAGTGGTTACTGCCAGCAGGGCCAACAGCCATATTACAGCCAGCAGCCGCAGCCCCCGCACCTCCCACCCCAGGCGCAGTATCTGCCGTCCCAGTCCCAGCAGAGGTACCAGCCGCAGCAG___GACATGTCTCAGGAAGGCTATGGAACTAGATCTCAACCTCCTCTGGCCCCCGGAAAACCTAACCATGAAGACTTGAACTTAATACAGCAAGAAAGACCATCAAGTTTACCA___GATCTGTCTGGCTCCATTGATGACCTCCCCACGGGAACGGAAGCAACTTTGAGCTCAGCAGTCAGTGCATCCGGGTCCACGAGCAGCCAAGGGGATCAGAGCAACCCGGCGCAGTCGCCTTTCTCCCCACATGCGTCCCCTCATCTCTCCAGCATCCCGGGGGGCCCATCTCCCTCTCCTGTTGGCTCTCCTGTAGGAAGCAACCAGTCTCGATCTGGCCCAATCTCTCCTGCAAGTATCCCAG___GTAGTCAGATGCCTCCGCAGCCACCCGGGAGCCAGTCAGAATCCAGTTCCCATCCCGCCTTGAGCCAGTCACCAATGCCACAGGAAAGAG___GTTTTATGGCAGGCACACAAAGAAACCCTCAGATGGCTCAGTATGGACCTCAACAGACAGGACCATCCATGTCGCCTCATCCTTCTCCTGGGGGCCAGATGCATGCTGGAATCAGTAGCTTTCAGCAGAGTAACTCAAGTGGGACTTACGGTCCACAGATGAGCCAGTATGGACCACAAG___GTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCCCAGTGCAAGCTACAGCGGCCCAGGGCCCGGTATGGGTATCAGTGCCAACAACCAGATGCATGGACAAGGGCCAAGCCAGCCATGTGGTGCTGTGCCCCTGGGACGAATGCCATCAGCTGGGATGCAGAACAGACCATTTCCTGGAAATATGAGCAGCATGACCCCCAGTTCTCCTGGCATGTCTCAGCAGGGAGGGCCAGGAATGGGGCCGCCAATGCCAACTGTGAACCGTAAGGCACAGGAGGCAGCCGCAGCA)GTGATGCAGGCTGCTGCGAACTCAGCACAAAGCAG___GCAAGGCAGTTTCCCCGGCATGAACCAGAGTGGACTTATGGCTTCCAGCTCTCCCTACAGCCAGCCCATGAACAACAGCTCTAGCCTGATGAACACGCAGGCGCCGCCCTACAGCATGGCGCCCGCCATGGTGAACAGCTCGGCAG|TGGAAATGGAGTTACAGAGACTCGATTTAACCTCTTGCCTGAGAAAATGATTTTCAATTTGTTGAACATCAGGAAACAAAGAACAGTGATGCCTGGGAAATGTGAAACACACAAGGTGAGCCTGAAAATTGCC MAARAAAAAAAAAARARARAGSGERRAPPGPRPAPGARDLEAGARGAAAAAAAPGPMLGGGGDGGGGLNSVHHHPLLPRHELNMAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQDSGDATWKETFWLMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQSNPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQSPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNYSRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNMSSMTPSSPGMSQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLMASSSPYSQPMNNSSSLMNTQAPPYSMAPAMVNSSA|vemelqrldltsclrk* 11BR053 ENSG00000047410.14 ENSG00000236021.2 -/- +/- chr1:186355410 chr1:176379917 CDS/splice-site intron deletion/5'-5' 3 1 0 61 7 high out-of-frame . . . . ENSG00000047410.14 ENSG00000236021.2 ENST00000367478.9 . upstream downstream . ^(CTTCGGTCGCGGGCGGTGAGGTGCTGTTGCTGAAACGCTGCCGCTGAGGGTGGACTCGATTTCCCAGGGTCCCGCCGCGGGAGTCTCCGGCGGGCGGGCGCGCGCGAGCCACCGAGCGAGGTGATAGAGGCGGCGGCCCAGGCGTCTGGGTCCTGCTGGTCTTCGCCTTTCTTCTCCGCTTCTACCCCGTCGGCCGCTGCCACTGGGGTCCCTGGCCCCACCGACATGGCGGCGGTGTTGCAGCAAGTCCTGGAGCGCACGGAGCTGAACAAGCTGCCCAAGTCTGTCCAGAACAAACTTGAAAAGTTCCTTGCTGATCAGCAATCCGAGATCGATGGCCTGAAGGGGCGGCATGAGAAATTTAAGGTGGAGAGCG___AACAACAGTATTTTGAAATAGAAAAGAGGTTGTCCCACAGTCAGGAGAGACTTGTGAATGAAACCCGAGAGTGTCAAAGCTTGCGGCTTGAGCTAGAGAAACTCA___ACAATCAACTGAAGGCACTAACTGAGAAAAACAAAGAACTTGAAATTGCTCAGGATCGCAATATTGCCATTCAG___AGCCAATTTACAAGAACAAAGGAAGAATTAGAAGCTGAGAAAAGAGACTTAATTAGAACCAATGAGAGACTATCTCAAGAACTTGAATACTTAACAG___AGGATGTTAAACGTCTGAATGAAAAACTTAAAGAAAGCAATACAACAAAGGGTGAACTTCAGTTAAAATTGGATGAACTTCAAGCTTCTGATGTTTCTGTTAAG___TATCGAGAAAAACGCTTGGAGCAAGAAAAGGAATTGCTACATAGTCAGAATACATGGCTGAATACAGAGTTGAAAACCAAAACTGATGAACTTCTGGCTCTTGGAAGAGAAAAAGGGAATGAGATTCTAGAGCTTAAATGTAATCTTGAAAATAAAAAAGAAGAG___GTTTCTAGACTGGAAGAACAAATGAATGGCTTAAAAACATCAAATGAACATCTTCAAAAGCATGTGGAGGATCTGTTGACCAAATTAAAAGAG___GCCAAGGAACAACAGGCCAGTATGGAAGAGAAATTCCACAATGAATTAAATGCCCACATAAAACTTTCTAATTTGTACAAG___AGTGCCGCTGATGACTCAGAAGCAAAGAGCAATGAACTAACCCGGGCAGTAGAGGAACTACACAAACTTTTGAAAGAAGCTGGTGAAG___CCAACAAAGCAATACAAGATCATCTTCTAGAGGTGGAGCAATCCAAAGATCAAATGGAAAAAGAAATGCTTGAGAAAATAGGGAGATTGGAGAAGGAATTAGAGAATGCAAATGACCTTCTTTCTGCCACAAAACGTAAAG___GAGCCATATTGTCTGAAGAAGAGCTTGCCGCCATGTCTCCTACTGCAGCAGCTGTAGCTAAGATAGTGAAACCTGGGATGAAACTAACTGAG___CTCTATAATGCTTATGTGGAAACTCAGGATCAGTTGCTTTTGGAGAAACTAGAGAACAAAAGAATTAATAAGTACCTAGATGAAATAGTGAAAGAAGTGGAAGCCAAAGCACCAATTTTGAAACGCCAGCGTGAGGAATATGAACGTGCACAGAAAGCTGTAGCAAGTTTATCTGTTAAGCTTGAACAAGCTATGAAG___GAGATTCAGCGATTGCAGGAGGACACTGATAAAGCCAACAAGCAATCATCTGTACTTGAGAGAGATAATCGAAGAATGGAAATACAAGTAAAAGATCTTTCACAACAG___ATTAGAGTGCTTTTGATGGAACTTGAAGAAGCAAGGGGTAACCACGTAATTCGTGATGAGGAAGTAAGCTCTGCTGATATAAGTAGTTCATCTGAGGTAATATCACAGCATCTAGTATCTTACAGAAATATTGAAGAGCTTCAACAACAAAATCAACGTCTCTTAGTGGCCCTTAGAGAGCTTGGGGAAACCAGAGAAAGAGAAGAACAAGAAACAACTTCATCCAA___AATCACTGAGCTTCAGCTCAAACTTGAGAGTGCCCTTACTGAACTAGAACAACTCCGCAAATCACGACAGCATCAAATGCAGCTTGTTGATTCCATAGTTCGTCAGCGTGATATGTACCGTATTTTATTGTCACAAACAACAGGAGTTGCCATTCCATTACATG___CTTCAAGCTTAGATGATGTTTCTCTTGCATCAACTCCAAAACGTCCAAGTACATCACAGACTGTTTCCACTCCTGCTCCAGTACCTGTTATTGAATCAACAGAGGCTATAGAGGCTAAGGCTGCCCTTAAACAG___TTGCAGGAAATTTTTGAGAACTACAAAAAAGAAAAAGCAGAAAAT)GAAAAAATACAAAATGAGCAGCTTGAGAAACTTCAAGAACAAGTTACAGATTTGCGATCACAAAATACCAAAATTTCTACCCAGCTAGATTTTGCTTCTAAACG|AAGAGAAAATTTGGACACAGAGATACAGAAGAACACCATGTGAGGACAAACACAGAGATTAGGCCAATGCCTCCGAAACCGAAG MAAVLQQVLERTELNKLPKSVQNKLEKFLADQQSEIDGLKGRHEKFKVESEQQYFEIEKRLSHSQERLVNETRECQSLRLELEKLNNQLKALTEKNKELEIAQDRNIAIQSQFTRTKEELEAEKRDLIRTNERLSQELEYLTEDVKRLNEKLKESNTTKGELQLKLDELQASDVSVKYREKRLEQEKELLHSQNTWLNTELKTKTDELLALGREKGNEILELKCNLENKKEEVSRLEEQMNGLKTSNEHLQKHVEDLLTKLKEAKEQQASMEEKFHNELNAHIKLSNLYKSAADDSEAKSNELTRAVEELHKLLKEAGEANKAIQDHLLEVEQSKDQMEKEMLEKIGRLEKELENANDLLSATKRKGAILSEEELAAMSPTAAAVAKIVKPGMKLTELYNAYVETQDQLLLEKLENKRINKYLDEIVKEVEAKAPILKRQREEYERAQKAVASLSVKLEQAMKEIQRLQEDTDKANKQSSVLERDNRRMEIQVKDLSQQIRVLLMELEEARGNHVIRDEEVSSADISSSSEVISQHLVSYRNIEELQQQNQRLLVALRELGETREREEQETTSSKITELQLKLESALTELEQLRKSRQHQMQLVDSIVRQRDMYRILLSQTTGVAIPLHASSLDDVSLASTPKRPSTSQTVSTPAPVPVIESTEAIEAKAALKQLQEIFENYKKEKAENEKIQNEQLEKLQEQVTDLRSQNTKISTQLDFASKr|renldteiqkntm* 11BR053 ENSG00000148719.15 ENSG00000152779.14(28489),ENSG00000152782.16(15414) -/- ./- chr10:72354765 chr10:89564083 CDS/splice-site intergenic duplication 1 1 0 54 2 high out-of-frame . . . . ENSG00000148719.15 . ENST00000394903.6 . upstream downstream . ^(GTTGGCGCATACTCAACTCTAAGACCTCCGGAACATGGAATCTGGGCGTGCACCATTATTGACACCTACACCAGCCGTCCCTTTCTTAGAAGACATACGGTAGCACTTCCACCCTCGCTCAAAACTCGGGAAAGGAGGGGCGGAGGGTGGATGTCATCACTCCGCGCCCGGCTGCCCGCGACGCGCCGGCGGGTGGCGCAGCCCTTCGCTCGCCCGGCCTCCCCCTCCCTGGTTCCGCGTTCTGGTTCCGCCATGGAATCCAACAAGGATGAA)GCTGAGCGCTGTATCAGCATCGCCCTCAAGGCCATCCAGAGCAACCAGCCCGACCGGGCGCTCCGCTTCCTGGAGAAGGCACAGCGGCTGTATCCGACGCCGCGAGTTCGCG|GTATATTACATCTGCCCTGATTTTACCGCTAGATGGCATTACTTTCCTGGGAATTTCCTGGTCgTTGCCCATACTGG MSSLRARLPATRRRVAQPFARPASPSLVPRSGSAMESNKDEAERCISIALKAIQSNQPDRALRFLEKAQRLYPTPRVR|gilhlp* 11BR053 ENSG00000118900.15 ENSG00000162104.10 +/+ -/+ chr16:4848210 chr16:4072050 5'UTR/splice-site intron duplication/5'-5' 0 14 0 23 45 medium . . . . . ENSG00000118900.15 ENSG00000162104.10 ENST00000262376.11 . downstream upstream . ^(GGCTCCTTCCCCCTCCCTTCGGCTCGTGACAACGAAGCGCCCGCGGTCTGAGGCGGCGGCGGCGGCGACGGTGCGACCGGCTGAGCGCGAGAGGGAGCCGGCCTCGCGGCTCGCCCCGCCCCCGGGTCTTGGACTCCGCGCCCCTCCCCTCTCGGCGCTTCCGTTACGCCCGTTGGTCCGGCGCGGGCCCCGGGGCCATTCCCGAGCCCGAGGCGCTGGTCGGCCCCGTCGCAGCGCCAGTGAGCTACCCTGACGGAGCTCGGCGCGGCCTGGAACTCAGCCTCCGCCGGGTCTGGGCTCCCGCGCCCGGCAACTCTGCTTGGCCGCAGGCCGGGAGGCCCCGGTGTCCGCGCCCGTCCGCTCCCGCCGCCCGTGTTCTTTGGAGCGCTCCTCCCGACGGCCGCTTTCGGAGGCGCCGTCTGAGCGCGGGGTCCCGCGCCGCAAGTTCTCCTGGGGCGACCGGAGGCTGCTCCCCCGACCCCCTGGTGTCCCCGGAGTGGCTGCGCGGACGTCGAGTTGGCATTTCTTCGCTTCCTCCTGGGCCGGCGCGCGGCGCGGCACACCAGGCTCCCCTGGGCTCGGGGACCCGGCCATGGGCCGAGGCGCGGGCCGCCCGCCCGCTGGGAGCCACGGCTTAGCAGCCGACCGCTAGCTGCGCCGCCGCC)CGGGGACCGGCATGAGGACCGCCGCGGGGGGACGTCTGCGGCCCGCGTCGGCGCTGGGGACAAAG|AACCAAAGCCACTGCATTCTGAAGACTGAAGACGATTTAAAAGCCTGTGAATCTCCCTTGTTTGGAATCCCACTGGGCCgGATCTGTTTTCCATGACCAAGGCACTGCTGCTAAAGCTATACAGTATCAAGCACCCTCCTTAAAGGCTCAGGGACCATGAAGGAAGAAGAGGaCATGTGAGATTACAAGAGCTGGATTACAAGAGTGGACTGTGGAGGCTGAAGTAGCTCCATCGTGGATGCTACTCCGCCATGTGGCTTCTGATTAACCCCAGTTCCAGGAAACCCTCTGAGATTTCCAGCTTATGCGCTGTTCCTCGTGTAAG . 11BR053 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 2 7 1 42 24 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCA)GTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR053 ENSG00000117505.13 ENSG00000117569.18(103244),ENSG00000188641.14(150761) +/+ ./+ chr1:93361317 chr1:96926982 3'UTR intergenic deletion 3 3 0 43 6 medium stop-codon . Histone-like_transcription_factor_(CBF/NF-Y)_and_archaeal_histone(100%)| . . ENSG00000117505.13 . ENST00000370272.9 . downstream upstream . ^(GCAAAGGGTGTCGGGAGCGGCTTCCTGCAAACCTTCCCTGGCATCTGGAGGGACCACCGTTGCCGCGTCTTCGGCTTCCACGATCTGCGTTCGGGCTACGCGGCCACGGCGGCAGCCACTGCGACTCCCACTGTGCCTGGCTCTGTCCATATTAGTTCCCAGGCGGCCGTCGCCGTTCCAGCAGCGGCAGCGGCAGCGGCAGCGGCGGACATGTTGTGAGGCGGCGGCGCGGGTGTCTGAAGGATGGTTTGGCCGAGGCGGCGGCAACGGCTGCTGGCGGCGGCGGCAGCGGCAGCGGGGCCTCGGGCTCTATAGAGCCGAGCCCGCTGGGTACCCGCCCGGTACCGCGGCGAGGCCAGTGCCCCTGGATCTTGCCTCTGCTCCGACGCCGTTGGGGACCAGTTAGGCGACAGCGCCCGCCCCTCTGAGGAGACACGAAGGTGGTTCCCCAGCCGCTCAAATTTCCGGACCACCGCGCTTTCCCCTCCTCAGCCTGGGCTGTGCTCTCTCTAGAATCCTCGGGCCCCCACTTTCTTCCCAAACTCATCCTAAATCTCTCACACACGCGAGTGTTCCCAGCCCTCAAGCCAGCTGCTCCTCCGTTCATTTTCTGCACCCTCTTCGCAAAGCACCCCCCGGGATCACTCTCCGAGGGCGACTTTTTGAGAAATCTCGGTGGAGTAGTGGACCAGAGCTGGGGAGTTTTTAAAAGCCGGGGCGCGAGAAACAGGAAGGTACTATGGCTTCCTCGTCTGGCAACGATGATGATCTCACTATCCCCAGAGCTGCTATCAATAAAATGATCAAAGAGACTCTTCCTAATGTCCGGGTGGCCAACGATGCTCGAGAGCTGGTGGTGAACTGCTGCACTGAATTCATTCACCTTATATCTTCTGAAGCCAATGAGATTTGTAACAAATCGGAAAAGAAGACCATCTCACCAGAGCATGTCATACAAG___CACTAGAAAGTTTGGGATTTGGCTCTTACATCAGTGAAGTAAAAGAAGTCTTGCAAGAGTGTAAAACAGTAGCATTAAAAAGAAGAAAGGCCAGTTCTCGTTTGGAAAACCTTGGCATTCCTGAAGAAGAGTTATTGAGACAGCAACAAGAATTATTTGCAAAA___GCTAGACAGCAACAAGCAGAATTGGCCCAACAGGAATGGCTTCAAATGCAGCAAGCTGCCCAACAAGCCCAGCTTGCTGCTGCCTCAGCCAGTGCATCTAATCAGGCGGGATCTTCTCAGGATGAAGAAGATGATGATGATATCTGAAATTCACCAGCTGAGTTTCTATTTCTTCTATAAATGTTTTTCCCTGCACAACAAAAACAGTGAAAGAAATGCTTATCTGTAATTTTGTATGCATCTTGGTGGACTTGTCATTGGTATTCTAGGGATGTCTGCTATTAAGTTTCATCTATTGTGTGCTATACATGTAAAAACTGTCTCTTTGAACTATTGAAAATTTAAGGTTCAGTATAATATCAATTTTGAATTTTTAATGGTGTTTATGAAATTTTAGATAGCAGCGAGTCCTTCGTTTGATCAATAAACAGTGTTACAGATAACTTCAAGTTTATAAAAATACAGTGAAATTTCTACAAAGCTCTAAATCTGCATTTGCATTTCCTCTGCCCTTTTAACTAAACTAAAACTTGTGAATTTTAAATTATTAAGGGGGGGGTGCTGTGTGAATCAGTAGACATTGGATTGGGTTGGTGAAAGAGTTCAGTTCTGTAGTATCTGAATTTGTCTTTTAAAATGAGTACATATATAGGCAATAAATATATATGCTCAGATCAATATA)CTTGTTTAGAAAAACTTCAAGACATTCAAAAACTAGGAAGGAGTATGTTTAATAGTATTTGTATAAATTTGGTGGTTATGTTTTTTTATTTTGTTTCTGTTTTGTGTAGAGGTAAAAACTATAGTTTTATTACAGCATAATTC|CTGGAGCATTGGTGTATCCATACCACTAGTGAGTCAGAAATATAAAAAAAATAAATATCTACTGTCATCCATGAAATACATAGGTTTCTCATCCTGGCACAAGTTAATACTCCATTTtCTAATTTTCCAACTTGTGAATTTAGTAAGTGCACACTAAGCTCAGCTGTCCCTGTAAATTTAACCAATCAACAAATGCTCCTTGAGTGCGCTTCCTCAGAACTACCATGAG . 11BR053 ENSG00000170653.19 ENSG00000286069.2 -/- +/- chr12:53626279 chr12:53781688 5'UTR/splice-site intron duplication/5'-5' 0 4 0 12 7 medium out-of-frame . . . . ENSG00000170653.19 ENSG00000286069.2 ENST00000548446.6 . upstream downstream . ^(AGTATCCGTTCCGCCAAGGGG)GGAAAGGAGGAGCTGGAGACAGATTGTAGGACCGAGCGCGGGCAGGCGGGAGGCAACGGAGCTACCAGCCG|GGTTCTGGGAGAGAAGGTGAGCTCACTTCTGCAGATGACTCTACTCACTGGCCACACCATGCTCTATAAACACCCTGCACCATCTGTGATGTCAGCTGCCAGCTGCCTGGAGAATCTGCCCTGCTCTGaGAGC 11BR053 ENSG00000184517.12 ENSG00000284522.1(6868),ENSG00000285142.1(4042) +/+ ./+ chr16:75167766 chr12:7633354 intron intergenic translocation 3 1 0 9 11 medium stop-codon . KRAB_box(100%)| . . ENSG00000184517.12 . ENST00000570010.6 . downstream upstream duplicates(1) ^(GCCCTTCCCCCACCACCAGCGGCGAGTGGGTGACAGAGCCCCCGTCTCCGCGCGTCTTCGCCGCCCTGCGCCGTGACCCGCTGTGGCACTGGGCCACGAGTGGAGGCTGCGCCCCTCCAG___TTCTGCCTTCATAGTTCTCTGCCTTTGCCCAAAACTGCAGAAAATGAACAAATCCCAG___GGATCA)GTTTCATTCACGGATGTGACTGTGGACTTTACCCAGGAGGAATGGGAACAACTGGACCCCTCTCAGAGGATCCTATACATGGATGTGATGCTGGAGAATTATAGCAACTTACTTTCAGTGG___GCTAGAATCCAGTGGTGACATCACGGTGCACTGTAGCGTCCACCTCCTGAGCTCAAGTAGTCTTCCCACCTCAGCCTGGAGTAGCTGGGATCACAGACACACACCACCATGTCCaGCTAATT|CAACTCTTCAGCTACGTAACTTCTACTAGTGACCTAATTCTTTGAGATGTCATTCCCTGCAGGAGGGCATCCTTGCTCTTCCAAGTCTAAGTTAAGAGGCATTATTTGGTTTTCTTACCTCGTCTTAGGCCTTAACAACACTGCCT . 11BR053 ENSG00000258710.8 ENSG00000279445.2(19049),ENSG00000281113.1(417) +/+ ./+ chr15:20942560 chr15:21703011 exon/splice-site intergenic deletion 0 3 0 73 28 medium . . . . . ENSG00000258710.8 . ENST00000553416.5 . downstream upstream duplicates(1),mismatches(1),multimappers(2) ^(GTTGCAGGCTATCGTGTGTTAACCTGTACTTCTGCCGCAGAGTTTGGAGAAAGCGGCAGCAGATTGTGCTGCCGCAGGCTGGAGCCTGGAACCTGGAGCCCTGGAGCCTTGAATGGTGTGTGGTGGCAATGGAGAGAGGCAGCTGGCAGTGACAGCTGCTCCGTGCTTGGCTACAGGAAGGAAAGAAGGAGAAAGCACCTACCATAGGCTGGAGGCTAGAGCCTGCAGGACTGCGGCTGGCCTCGCTGGCTCGCCTCCCTGGCTGGC)CTCGCTGTGGTTGGTGGCAGCGACGGATACTGCAGCTGGCCAGAGTGTAGAAAGGCAATGGGGTAG___GAGCGCAGTCCTGGTGGGCCCAGCGGTTCCTGTGGATTGGAGCCAGtCAGTGTGATGTTACCAGTCACCACTCCAGGTCCCAGTTCCTGGCCCGCTTGAGCCAAAAGGAGAGGCTGGAC?TTGGAGGGTGGATATGAGTGCCTTCACTGAGACTGGCCCCTGCCACCCAGTGGCCAGGATGACAAG|CTCTGGGGTAAAATCCACCCCTGGGCTGTGGAAGCATCCAGTCACTTCTCAGACTGGGACGGTGTCTCTGGGGAAGACAAAGGTGGGTTCAGAAGAAGATGAGATTGCTGGGCCTT...AGCTGTCCTGTCCCAGGTGCAGCAGCAGGAGTGAGGCTCAAGACTGGAGAAGCCGTGGCTGCCCCCTTCCTCACCTGGCACGACTCCGGATTCTCCATCACAGCCAGTGGTTACTGCGGAGGCCgGGTCCACCGGCCCCTAGACAAGGG...AGCTGTCCTGTCCCAGGTGCAGCAGCAGGAGTGAGGCTCAAGACTGGAGAcGCCGTGGCTGCCCCCTTCCTCACCTGGCACGACTCCGGATTCTCCATCACAGCCAGTGGTTACTGCGGAGGCCgGGTCCACCGGCCCCTAGACAAaGG . 11BR053 ENSG00000049618.24 ENSG00000112038.18 +/+ +/- chr6:157167185 chr6:154056817 CDS/splice-site intron inversion/3'-3' 3 0 0 60 1 medium out-of-frame . . . . ENSG00000049618.24 ENSG00000112038.18 ENST00000346085.10 . downstream downstream . ^(CACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACC___TTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCGGCGGGCCGCGTGGATGCGCACAGGAGGGGCCGCGGCCTGAAAAGTGGGGGTTATTGTCTCCCCCCGCCCCCCGCCCGGCCTCGCCACGCCGCGGCGATCATGGCCGCGCGGGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGCGGGCGCGGGCGCGGGCAGGCAGCGGCGAACGGCGGGCGCCCCCCGGGCCGCGGCCGGCGCCCGGAGCCCGGGACCTGGAGGCGGGGGCGCGCGGCGCGGCGGCGGCGGCGGCGGCACCGGGACCCATGCTGGGGGGCGGCGGCGACGGCGGCGGCGGCCTGAACAGTGTGCACCACCACCCCCTGCTCCCCCGTCACGAACTCAACATGGCCCATAACGCGGGCGCCGCGGCCGCCGCCGGCACCCACAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGGGTGGAAGCGCCGCCGCGCTGTCCTCCTCCTCCTCCTCCTCCGCGGCGGCAGCGGCGGCATCCTCTTCCTCCTCGTCGGGCCCGGGCTCGGCCATGGAGACGGGGCTGCTCCCCAACCACAAACTGAAAACCGTTGGCGAAGCCCCCGCCGCGCCGCCCCACCAGCAGCACCACCACCACCACCATGCCCACCACCACCACCACCATGCCCACCACCTCCACCACCACCACGCACTACAGCAGCAGCTAAACCAGTTCCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACATCCCATTTCCAACAACAACAGCTTGGGCGGCGCGGGCGGCGGCGCGCCTCAGCCCGGCCCCGACATGGAGCAGCCGCAACATGGAGGCGCCAAGGACAGTGCTGCGGGCGGCCAGGCCGACCCCCCGGGCCCGCCGCTGCTGAGCAAGCCGGGCGACGAGGACGACGCGCCGCCCAAGATGGGGGAGCCGGCGGGCGGCCGCTACGAGCACCCGGGCTTGGGCGCCCTGGGCACGCAGCAGCCGCCGGTCGCCGTGCCCGGGGGCGGCGGCGGCCCGGCGGCCGTCCCGGAGTTTAATAATTACTATGGCAGCGCTGCCCCTGCGAGCGGCGGCCCCGGCGGCCGCGCTGGGCCTTGCTTTGATCAACATGGCGGACAACAAAGCCCCGGGATGGGGATGATGCACTCCGCCTCCGCCGCCGCCGCCGGGGCCCCCGGCAGCATGGACCCCCTGCAGAACTCCCACGAAGGGTACCCCAACAGCCAGTGCAACCATTATCCGGGCTACAGCCGGCCCGGCGCGGGCGGCGGCGGCGGCGGCGGCGGCGGAGGAGGAGGAGGCAGCGGAGGAGGAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGAGCAGGAGCGGGAGCTGTGGCGGCGGCGGCCGCGGCGGCGGCGGCAGCAGCAGGAGGCGGCGGCGGCGGCGGCTATGGGGGCTCGTCCGCGGGGTACGGGGTGCTGAGCTCCCCCCGGCAGCAGGGCGGCGGCATGATGATGGGCCCCGGGGGCGGCGGGGCCGCGAGCCTCAGCAAGGCGGCCGCCGGCTCGGCGGCGGGGGGCTTCCAGCGCTTCGCCGGCCAGAACCAGCACCCGTCGGGGGCCACCCCGACCCTCAATCAGCTGCTCACCTCGCCCAGCCCCATGATGCGGAGCTACGGCGGCAGCTACCCCGAGTACAGCAGCCCCAGCGCGCCGCCGCCGCCGCCGTCGCAGCCCCAGTCCCAGGCGGCGGCGGCGGGGGCGGCGGCGGGCGGCCAGCAGGCGGCCGCGGGCATGGGCTTGGGCAAGGACATGGGCGCCCAGTACGCCGCTGCCAGCCCGGCCTGGGCGGCCGCGCAACAAAGGAGTCACCCGGCGATGAGCCCCGGCACCCCCGGACCGACCATGGGCAGATCCCAG___GGCAGCCCAATGGATCCAATGGTGATGAAGAGACCTCAGTTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAGCAGAGCAGTCCGTACCCAGGAGGTTCCTATGGCCCTCCAGGCCCACAGCGGTATCCAATTGGCATCCAGGGTCGGACTCCCGGGGCCATGGCCGGAATGCAGTACCCTCAGCAGCAG___GACTCTGGAGATGCCACATGGAAAGAAACATTCTGGTTG___ATGCCACCTCAGTATGGACAGCAAGGTGTGAGTGGTTACTGCCAGCAGGGCCAACAGCCATATTACAGCCAGCAGCCGCAGCCCCCGCACCTCCCACCCCAGGCGCAGTATCTGCCGTCCCAGTCCCAGCAGAGGTACCAGCCGCAGCAG___GACATGTCTCAGGAAGGCTATGGAACTAGATCTCAACCTCCTCTGGCCCCCGGAAAACCTAACCATGAAGACTTGAACTTAATACAGCAAGAAAGACCATCAAGTTTACCA___GATCTGTCTGGCTCCATTGATGACCTCCCCACGGGAACGGAAGCAACTTTGAGCTCAGCAGTCAGTGCATCCGGGTCCACGAGCAGCCAAGGGGATCAGAGCAACCCGGCGCAGTCGCCTTTCTCCCCACATGCGTCCCCTCATCTCTCCAGCATCCCGGGGGGCCCATCTCCCTCTCCTGTTGGCTCTCCTGTAGGAAGCAACCAGTCTCGATCTGGCCCAATCTCTCCTGCAAGTATCCCAG___GTAGTCAGATGCCTCCGCAGCCACCCGGGAGCCAGTCAGAATCCAGTTCCCATCCCGCCTTGAGCCAGTCACCAATGCCACAGGAAAGAG___GTTTTATGGCAGGCACACAAAGAAACCCTCAGATGGCTCAGTATGGACCTCAACAGACAGGACCATCCATGTCGCCTCATCCTTCTCCTGGGGGCCAGATGCATGCTGGAATCAGTAGCTTTCAGCAGAGTAACTCAAGTGGGACTTACGGTCCACAGATGAGCCAGTATGGACCACAAG___GTAACTACTCCAGACCCCCAGCGTATAGTGGGGTGCCCAGTGCAAGCTACAGCGGCCCAGGGCCCGGTATGGGTATCAGTGCCAACAACCAGATGCATGGACAAGGGCCAAGCCAGCCATGTGGTGCTGTGCCCCTGGGACGAATGCCATCAGCTGGGATGCAGAACAGACCATTTCCTGGAAATATGAGCAGCATGACCCCCAGTTCTCCTGGCATGTCTCAGCAGGGAGGGCCAGGAATGGGGCCGCCAATGCCAACTGTGAACCGTAAGGCACAGGAGGCAGCCGCAGCAGTGATGCAGGCTGCTGCGAACTCAGCACAA)AGCAG___GCAAGGCAGTTTCCCCGGCATGAACCAGAGTGGACTTATGGCTTCCAGCTCTCCCTACAGCCAGCCCATGAACAACAGCTCTAGCCTGATGAACACGCAGGCGCCGCCCTACAGCATGGCGCCCGCCATGGTGAACAGCTCGGCAG|GCACAATGAGGCTCTGATGTTCAGGTTATACTGCTGGCAACGTTTTTCAATTAACATTTAATACTCCCCCGGAAAAAGC MAARAAAAAAAAAARARARAGSGERRAPPGPRPAPGARDLEAGARGAAAAAAAPGPMLGGGGDGGGGLNSVHHHPLLPRHELNMAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQDSGDATWKETFWLMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQSNPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQSPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNYSRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNMSSMTPSSPGMSQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLMASSSPYSQPMNNSSSLMNTQAPPYSMAPAMVNSSA|gtmrl* 11BR053 ENSG00000165678.21 ENSG00000244712.1(75166),ENSG00000256513.1(181668) +/+ ./+ chr10:84142754 chr12:28640307 CDS/splice-site intergenic translocation 1 2 0 437 6 medium out-of-frame . . . . ENSG00000165678.21 . ENST00000372134.6 . downstream upstream . ^(AGTGCGCCGGAGGAACTGTGCTCTTTGAGGCCGACGCTAGGGGCCCGGAAGGGAAACTGCGAGGCGAAGGTGACCGGGGACCGAG___CATTTCAGATCTGCTCGGTAGACCTGGTGCACCACCACCATGTTGGCTGCAAGGCTGGTGTGTCTCCGGACACTACCTTCTAGGGTTTTCCACCCAGCTTTCACCAAGGCCTCCCCTGTTGTGAAGAATTCCATCAC)GAAGAATCAATGGCTGTTAACACCTAGCAGG___GAATATGCCACCAAAACAAGAATTGGGATCCGGCGTGGGAGAACTGGCCAAGAACTCAAAGAGGCAGCATTGGAACCATCGATGGAAAAAATATTTAAAA|AAACTGGTTGTACTTTCCAAATCTTCCAATGGCTAAGAGCATTGAAGAGTTATACAGAGCAGAAATTGGT...___GAAATGGAAGGAGGAGGTGAGAAAATGTGGTGAGTCAATAGTGGGGGTTAGG MLAARLVCLRTLPSRVFHPAFTKASPVVKNSITKNQWLLTPSREYATKTRIGIRRGRTGQELKEAALEPSMEKIFK|ktgctfqifqwlralksyteqkl 11BR053 ENSG00000171606.18 ENSG00000235954.7 +/+ +/+ chr19:58187042 chr22:27985692 CDS/splice-site intron translocation 2 0 0 31 19 medium out-of-frame . KRAB_box(100%)| . . ENSG00000171606.18 ENSG00000235954.7 ENST00000617501.5 . downstream upstream . ^(ATTCCAGCACTTCCGGCCTGACCCCTGTCCAGCGCCTTTCCTTTCTCCAGCTTCTGCTCTGCCCCAAGAGTGGTCGCCTTCGTGGCAGGGCACGACTCTCTCCCAGCTCGGGTCGCCGCCCACATTAGTGTGGGGCCCTGCGGCCTAGCGTCCCTCACCAGAGGCCTCCCCTTGCCTAGCTGGACCGCCGAGGGACATCGACGAGTATCCTCCTCCTGCTGTCCCCGGCTTCGCCTGCCGCCCCTAACCGGCCAGTCAAGATGGCCGCCGCTGGGTGAGGCAAGCTGGCGCGCCGCGGGGGCGTCTGGGAGTTGTAGTTCGGGACGGCGGGCTGACGCACTTCGCCGCCGGCCGACGGGCGCCATTGTGCGGCGCGCGCCGG___GACTCTGCCCACTTCCACCAGAGACACATTGAGAAGGAGGAAACTATGGCCTCCAGGCTTCCGACGGC)CTGGTCCTGT___GAACCAGTGACCTTTGAAGATGTAACACTGGGTTTTACCCCGGAAGAGTGGGGACTGCTGGACCTCAAACAGAAGTCCCTGTACAGGGAAGTGATGCTGGAGAACTACAGGAACCTGGTCTCAGTGG___AACATCAGCTTTCCAAACCAGATGTGGTATCTCAGTTAGAGGAGGCAGAAGATTTCTGGCCAGTGGAGAGAGGAATTCCTCAAGACACCATTCCAG|AAGTACAGTCTATATAAAGACTGTCCAGGACAAAAACaGGC MASRLPTAWSCEPVTFEDVTLGFTPEEWGLLDLKQKSLYREVMLENYRNLVSVEHQLSKPDVVSQLEEAEDFWPVERGIPQDTIP|evqsi* 11BR053 ENSG00000171606.18 ENSG00000100154.14 +/+ -/+ chr19:58187042 chr22:27985692 CDS/splice-site intron translocation/5'-5' 2 0 0 31 19 medium out-of-frame . KRAB_box(100%)| . . ENSG00000171606.18 ENSG00000100154.14 ENST00000617501.5 . downstream upstream . ^(ATTCCAGCACTTCCGGCCTGACCCCTGTCCAGCGCCTTTCCTTTCTCCAGCTTCTGCTCTGCCCCAAGAGTGGTCGCCTTCGTGGCAGGGCACGACTCTCTCCCAGCTCGGGTCGCCGCCCACATTAGTGTGGGGCCCTGCGGCCTAGCGTCCCTCACCAGAGGCCTCCCCTTGCCTAGCTGGACCGCCGAGGGACATCGACGAGTATCCTCCTCCTGCTGTCCCCGGCTTCGCCTGCCGCCCCTAACCGGCCAGTCAAGATGGCCGCCGCTGGGTGAGGCAAGCTGGCGCGCCGCGGGGGCGTCTGGGAGTTGTAGTTCGGGACGGCGGGCTGACGCACTTCGCCGCCGGCCGACGGGCGCCATTGTGCGGCGCGCGCCGG___GACTCTGCCCACTTCCACCAGAGACACATTGAGAAGGAGGAAACTATGGCCTCCAGGCTTCCGACGGC)CTGGTCCTGT___GAACCAGTGACCTTTGAAGATGTAACACTGGGTTTTACCCCGGAAGAGTGGGGACTGCTGGACCTCAAACAGAAGTCCCTGTACAGGGAAGTGATGCTGGAGAACTACAGGAACCTGGTCTCAGTGG___AACATCAGCTTTCCAAACCAGATGTGGTATCTCAGTTAGAGGAGGCAGAAGATTTCTGGCCAGTGGAGAGAGGAATTCCTCAAGACACCATTCCAG|AAGTACAGTCTATATAAAGACTGTCCAGGACAAAAACaGGC MASRLPTAWSCEPVTFEDVTLGFTPEEWGLLDLKQKSLYREVMLENYRNLVSVEHQLSKPDVVSQLEEAEDFWPVERGIPQDTIP|evqsi* 11BR053 ENSG00000258710.8 ENSG00000280709.2(22490),ENSG00000279445.2(7272) +/+ ./+ chr15:20942560 chr15:21675766 exon/splice-site intergenic deletion 1 1 0 73 19 medium . . . . . ENSG00000258710.8 . ENST00000553416.5 . downstream upstream . ^(GTTGCAGGCTATCGTGTGTTAACCTGTACTTCTGCCGCAGAGTTTGGAGAAAGCGGCAGCAGATTGTGCTGCCGCAGGCTGGAGCCTGGAACCTGGAGCCCTGGAGCCTTGAATGGTGTGTGGTGGCAATGGAGAGAGGCAGCTGGCAGTGACAGCTGCTCCGTGCTTGGCTACAGGAAGGAAAGAAGGAGAAAGCACCTACCATAGGCTGGAGGCTAGAGCCTGCAGGACTGCGGCTGGCCTCGCTGGCTCGCCTCCCTGGCTGGCCTCGCTGTGGTTGGTGGCAGCGACGGATACTGCAGCTGGCCAGAGTGTAGAAAGGCAATGGG___GAGCGCAGTCCTGGTGGGCCCAGCGGTTCCTGTGGATTGGAGCCAGGCAGTGTGATGTTACCAGTCACCACTCCAGGTCCCAGTTCCTGGCCCG)CTTGAGCgAAAAGGAGAGGCTGGACTTTGGAGGGTGGATATGAGTGCCTTCACTGAGACTGGCCCCTGCCACCCAGTGGCCAGGATGACAAG|GTCTGCTGGAGTTTGCTGCGGGTCCACTCCAGACCCTGTTTACCTGGGTGTCATCGCAGATGCTGCAGAACAGCAAAGACTACTGCCTGTTCCTTCTTCTGGAAGCTTTGTCCCAGAGGGGCACCAGCCAGATGCCAG . 11BR053 ENSG00000237515.9 ENSG00000180663.5 +/+ -/- chr16:12916815 chr16:31808578 CDS/splice-site exon inversion 1 1 0 40 2 medium out-of-frame . . . . ENSG00000237515.9 ENSG00000180663.5 ENST00000558583.3 ENST00000418822.1 downstream downstream . ^(ATTCCACAAGTGTCGCTTCGCTCTCTTCAGCGCACTTGGCGAGCTGGTGAGGTGAGAGGGATACTGCGAGAGGGCTAGGGGCGGCCAGTCCGGGGCTGCCGGCCAAGGCTAGGCGCTGCCAGCCCGATTCTCCTCTGCTCTCCACCCCCGCCTCACCCAGTGGCCGGCCGGACCTGCACCCCGCGCTTGACCCCGCTCATCCTCCCCCCGCCCGGCCGGGCGCGCTCCTCCCCGGCCGGCCCCTCGGCGCGCGGCGCGCTGGAGGCGAACGCGGGCTGAGGCGAACGCGGGCTGAGCCGAGCGCAGTGGCCGCCGACCACCGAGCGCCCCGCGCCGCTCCCTGCATGTGCGGCCCGCGGCGGCTCGCAGCTCCCGGCAGCAGCCTCGGCAGCTTCGGCCGCGCCTCGAGAGGCGGCCGCAGAGGCTCCAGCGGCGGCCGAGCGGCCGAGCCCGGGCTGGGAGACACCATGCGCCGCGTCCTTCGGCTGCTCCTCGGTTGCTTCCTCACCGAGCTGTGCGCCCGCGTGTGCCGGGCGCAGGAGCGAGCGGGACACGGGCAGCTGGCGCAACTGGGCGGCGTGTTGCTGCTGGCGGGGGGCAACCGCTCCGGGGCCGCCTCCGGAGAGGCCAGCGAGGGCGCTGAGGCATCGGACGCGCCCCCGACCCGGGCGCCCACGCCGGACTTCTGCCGGGGCTACTTCGATGTCATGGGCCAGTGGGACCCGCCGTTCAACTGCAGCTCGGGCGACTTCATCTTCTGCTGCGGGACTTGTGGCTTCCGGTTCTGCTGCACGTTTAAGAAGCGGCGACTGAACCAAAGCACCTGCACCAACTACGACACGCCGCTCTGGCTCAACACCGGCAAGCCCCCCGCCCGCAAGGACGACCCCTTGCACGACCCCACCAAGGACAAGACCAACCTGATCGTCTACATCATCTGCGGGGTGGTGGCCGTCATGGTGCTCGTGGGCATCTTCACCAAGCTGGGGCTGGAGAAAGCGCACCGGCCCCAAAGGGAGCACATGTCCAG___GGCCCTTGCGGA)TGTCATGAGACCACAGGGCCACTGCAACACTGATCACATGGAGAGAGACCTAAACATCGTTGTCCACGTCCAGCATTATGAGAACATGGACACGAGAACCCCCATAAATAATCTTC|AGTGGGCAGGGCTGTGTGCACTGAGTGTCTTCCAGGTCATCACCATCAGCCCCAGTGAATTCAGGTGGGCAGAGCTGAcGCTACATGCTCACAAATACATCAGGTCTTTT(ATCCTGGTCCTGTGCTGGATTCTGAACACGCTGGTAAATATTACTGTTCTTCTACATGTGACTGGCAAGTGGAACAGCATAAATAGCACAAAGACAAATGATTATGGATATTGTTCTGGAGGAAGTAGGAGCAGAATTCCACATTCATTACATATTGTCTTGTTATCATCCCTTGATGTTTTGTGTTTGGGGCTCATGACCTTGGCCAGTGGCTCCATGGTTTTTATCCTGCACAGGCACAAGCAGCAGGTCCAGCACATTCATGGGACCAACCTCTCCGCCAGATCCTCCCCTGAGTCCAGAGTCACCCAAAGCATCCTGGTCCTGGTGAGCACCTTGTGTTACTTTACTCGCTCTCCTCCATCTTTACATATGTCTCTTTTTCCTAATCCCAGTTGGTGGCTGTTGAACACCTCTGCACTGATCACTGCCTGTTTTCCCATGGTCAGCCCCTTTGTGCTCATGAGCCGCCATCCCAGGATACCCAGGCTGGGCTCTGCCTGCTGTGGAAGGAATCCACAGTTTCCTAAGCTGGTCAGATAG)$ MRRVLRLLLGCFLTELCARVCRAQERAGHGQLAQLGGVLLLAGGNRSGAASGEASEGAEASDAPPTRAPTPDFCRGYFDVMGQWDPPFNCSSGDFIFCCGTCGFRFCCTFKKRRLNQSTCTNYDTPLWLNTGKPPARKDDPLHDPTKDKTNLIVYIICGVVAVMVLVGIFTKLGLEKAHRPQREHMSRALADVMRPQGHCNTDHMERDLNIVVHVQHYENMDTRTPINNL|qwaglcalsvfqvitispsefrwaeltlhahkyirsfilvlcwilntlvnitvllhvtgkwnsinstktndygycsggsrsriphslhivllssldvlclglmtlasgsmvfilhrhkqqvqhihgtnlsarsspesrvtqsilvlvstlcyftrsppslhmslfpnpswwllntsalitacfpmvspfvlmsrhpriprlgsaccgrnpqfpklvr* 11BR054 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 8 12 0 33 36 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream low_entropy(2) GTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTAC(ACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11BR054 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 8 0 19 21 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismatches(2) GGGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCC(AAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR054 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 4 1 165 33 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACC)AATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG___AACAGACAAAAGGACGTGGAATGTACTTTCTGCTACAGCCATTACA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR054 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 9 0 19 56 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(3),mismatches(1) CTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGAT(ACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR054 ENSG00000215838.4(5906),ENSG00000143183.16(8419) ENSG00000215838.4 ./+ +/- chr1:165715874 chr1:165709459 intergenic exon inversion 1 3 0 5 4 medium . . . . . . ENSG00000215838.4 . . downstream downstream mismatches(1) CTCAGCTCCACATGG[t]TAACTGAAGGACTCAGGATGtCATCTTCAACACATGGTTTCCAAGGACACTCTCAGCATGAcCCTCCCAGTCATCCgGAGAAG?AAACAGCAAGAAGTCTTCACTG|CCTCTTGTTCTGAAGCCTTCTAGCCATGAAGAAAATGGCCAGCAGAAGTCAGAGAGAGCCAACCAAGATTCCTACACCAAGGCTCAGCATTTCACCTGTAGGATACAAGGATCCCATCTGGATGAAAAAAGCAAAGGTCATTGCTGGTTGAGAG . 11BR054 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 2 0 0 83 4 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream low_entropy(1) ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGC)CTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGAC(ATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 11BR055 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 8 13 0 61 35 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGA)GAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR055 ENSG00000213958.2(12786),ENSG00000150722.10(10604) ENSG00000150722.10 ./+ +/+ chr2:181975264 chr2:181987839 intergenic CDS/splice-site deletion/read-through 15 5 1 56 31 high . . . . . . ENSG00000150722.10 . ENST00000409137.7 downstream upstream inconsistently_clipped(2),mismappers(2),mismatches(1) CAGTGAAAAATGTACCGAGACCTTGGAGAGCCACGAACCAAGAAACTTCAGAAACCTCTGATATCTGATCAAGAGTTAAGAGACGTCAGAATCATCACAACTGACAAAAG___AATGTTTTCTCTCTTCAAGATTCTCTTTTGAAAGACATCTAAAAAG|ATCAGGAAAAGAAGACCTACACCAGCATCACTTGTGATTCTCAATGAGCATAACCCCCCAG___AAATAGATGACAAGAGGGGGCCCAACACACAAGGGGAA___TTACAGAATGCATCCCCTAAGCAAAGGAAGCAGAGTGTGTACACACCACCCAC(CATAAAAG___GGGTTAAGCATCTGAAAGGCCAGAATGAATCAGCATTCCCTGAAGAAGAAGAAGGCACCAATGAAAGAGAGGAGCAGCGGGACCATTAATTACTG___GTGCAAAATGAGTTGATAACAACCAGAAGTTGACTTGTTAGTGCTGTGCTTCTACTCGAGCTTGGAAAAATCCCAACACAAAACAAACACCACCTCCGATTCCATCATGATGCCACGTTGCTTTCTACTGGATTACCTCCTGAAGCACTTTAGATATTTTATACATAAGTATTGACATGTTTTTCAGAAGCTGTTTCTTCACTTATTGCTTTTTTCTAATAATTTTTATTACACCATTTGCCAAGTCCTTCCCTTTGGTTTTAGTTTATTCCTCTCTACAACTAAAAAAGGGATCTTGAGTTTAGGTACATTTTAAGTGATTCATTTTTAGTTTTTCTAATTCTGGAATCTGAGCCTTCTCTTACAACAGGGAGTCTTTCAAAAACATTTTTTTGTTTCTTTTTCAAATTCCACTGTGTTTATTTATTGCCTTGTTTCTTTTTCAAATTCCATTGGTCTTGATTTAATTTAGTTCCACAGATTTTACTGATAGTCTACTACCTGCCAACTACTGAATTATGCAGCAGACTTATAAAAATAAAAAGGCTATTTTATTGTTATTGCCATCCTGCTAGTAAAGATTTATTCAATTATTTATAATTAATTAAGTGGCTTCACCTATATTTCTGTTAATAATCACATTAATTATGTATGACAGGTAGGATTTATGTTATAGATAAGAAAACTAGAGTCCAAAGAAAATAAGTGTCCCCAAATGAACCAATAATCCAACAAACGCTTCCACTAACTAGCTTCTGACCTGTTTGAGTTGTGATAGATTTTAGAATAAAAAAGCCTATCCTCCTTAGGAGCCATAGACTTTTATTCTTTCTTATACTGTCTTATATATTGACTTAGAGCTAAACTTCCTCCAATTCAGACATAAAGCATAGGCAGATACTTTTGCTAATGAGGCTAAGCTGGGAAGAAAACCCTGAGTTCTACTTTAATTCTTGGGCATTGACTTCAAACTAAGATGACTTATAAGAAATAAAAGAAGTAAATTTGAAACTTTAATAAAAAAAGTACATGGTTCATTTAAAAATGTTTCCTATGTCTAAATCTATATTTTAAAAATAACCTTTATCATGTAAAATGAGAGAATTGCTGAGTTTATGACAATCTTAGGTATAACCTTTTCTTAAAGAACAAGGCATCAATCTTTAATTTGTTTCCCTTTCTTGATTTCTCATAAGTTGCAAAATAAAAATAAAAATAATTTCACAAATTGTTCATTATTATTATCCTCCCTACTTGCCCCAGGATTTAAGTACTAACTTTTACTTCCTACTCTTAGACTTTGTATTGCCAAAGAAATAAAATATGAAAAAGCATAATCACCCAGACCTACCTGCGGAATTGTGGATTATGCTGTAGATATTAGATCATTGAAAGGAACAATATACTACTTAATGAGGAGCCAAAGACAACATTCTACCTGCTGCTCCCTTCAAGCTGAGGAATGAGTTTAATTGACTTCAAAGTCCCATTATTCTCAAAAGTAGCAAAGGTACAACATGGCTTTGCATGAATCAAAGGAAGGGAACAACAAGAACTTAAAAAAATAGTTTGCAGATGGTTGAACATCTCTTTAATAATTAGAGAAGAATATCTTTTCTTTCTTTATTGTTTACAGATACCAACATTTTTCAAAGCCTTGCAGTAGATGAGTGAGTCTCCTGTTACATTTCTCCTGCAGCATATATTCTGTGGATGTGTTTTCCTAAGCAGACTAATTATATGTTGCTCTCTTCTTTTACCCTAATGAAACATAGATTTTTCTGTTTTGAATTTGTCACTTGTTTGTTACATTTGTCAAGTGTTTTAAATATTACATTGGTCCTTTATTTGCTTTTGAGAACACCCAATAGTTTAAAAATTAAAATGACATGAAGGTCAATTCTAAGACAGGAATGATACTACTAAATCCTGGACTTGCCTATGATAACAAGCTCGAGCTACACACTTTTATTGTCAGAATAAATGGAATATATAGGAAGGAGTTAATTGGAACTGGTTAGTACCTAAATAAGATTTTTCAAAGTAAGTTTTTTGTCGTATTGGCAGAACAGTGTTAAAAAATAGACATTGTCATCATAAACACCCACAACTATATCTGTAGAAGATAATTTAATGCAATATTCTGGGGAAAATACAGTTGCCAAAATTAATCTCCTTGTTTTCTTTCATTGTGCAATGTGGAGTTAAATTTTTTTTCTATTGAGCAGTGTGTGTGTGTGTTTGTGTCTATAATTTATATATGTGCTTGTATACATTTCTATATACACATGTATGTGTATGCAAAATATGTATATATACACATATATATAAAATGTACACTAAATATGTATATATGTATATTCATAAAATGTTTTGCTGTATGGAAATAAAAAAGAAGGTTTCTAAAGGAAAGATAGAGAAGAAA)$ . 11BR055 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 7 1 22 19 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1) GGGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGC(CTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR055 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 7 11 0 29 285 high . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000369458.8 upstream downstream low_entropy(2) CCTTAGGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG___GGAGACACTCCATCACAGTCACTACTGTCGCCTCAGCTGGGAACATTGGGGAGGATGGAATCCTGAGCTGCACTTTTGAACCTGACATCAAACTTTCTGATATCGTGATACAATGGCTGAAGGAAGGTGTTTTAGGCTTGGTCCATGAGTTCAAAGAAGGC(AAAGATGAGCTGTCGGAGCAGGATGAAATGTTCAGAGGCCGGACAGCAGTGTTTGCTGATCAAGTGATAGTTGGCAATGCCTCTTTGCGGCTGAAAAACGTGCAACTCACAGATGCTGGCACCTACAAATGTTATATCATCACTTCTAAAGGCAAGGGGAATGCTAACCTTGAGTATAAAACTGGAG___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACCA)$ . 11BR055 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 4 13 0 23 51 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream . GGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTG(GATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR055 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 5 9 0 18 20 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream . GGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTG(ACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11BR055 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 1 11 0 32 17 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGT)ACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGC...___ATTCAAGGCCTCTTCCAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssg 11BR055 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 5 6 0 13 12 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(1) ATAACCGGATTCAACATGGGCAATGTGCCTACACTTTCATTCTTCCAGAACACGATGGCAACTGTCGTGAGAGTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGG(AGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 11BR055 ENSG00000107099.15 ENSG00000256709.2(20202),ENSG00000202407.1(78542) +/+ ./- chr9:271729 chrX:106348026 CDS/splice-site intergenic translocation 4 2 0 15 12 high out-of-frame . . . . ENSG00000107099.15 . ENST00000432829.6 . downstream downstream . ^(GACAGACGAGGTTTGCGCTTGGCTGGGCATGTTCCGCGGCTACTCTGCGGCGCGCCAGGCCCCCGCTTTCCGCACCCCGCGACCC)TAGAAGCCACCGAACCGCCGGCGGGCCATGGCCACTCTGCCGAGCGCAGAGCGCCGCGCGTTCGCGCTCAAGATCAACAG___GTATTCTTCAGCGGAAATAAGGAAACAGTTTACTCTCCCACCAAACCTTGGCCAGTACCATCGACAGAGCATAAGTACCTCTGGCTTCCCCTCTCTTCAACTA|GGACTGCCAAGGCTTACTGCCCTAAATTGTGGATTGCATCCTCCTAGAATGCCCATGGACTCCACTTCCAGCTAGCCCTGACTCG___CCTCATTCCTGAAGTCAGCGAGACCACGAACCCACTGGGAG MATLPSAERRAFALKINRYSSAEIRKQFTLPPNLGQYHRQSISTSGFPSLQL|glprltalncglhpprmpmdstss* 11BR055 ENSG00000160973.8(2278),ENSG00000160972.9(11903) ENSG00000160972.9 ./+ +/+ chr8:144478127 chr8:144490034 intergenic 5'UTR deletion/read-through 11 10 0 25 46 medium . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000160972.9 . ENST00000292539.8 downstream upstream duplicates(2) CGGAAGTGTAGCGTTGCCATGGCGAGGGCCGGGcGCGGGGCCCGCCCCCGCAGCGCCTCAGGGAGCGCGGGGCCCACTGACCCGCGGAAGCCAGCGGACCCACTTGTGCGGCGGTCGGCGCGGGGCGCGAG|GTACTGGCACACGGATGAGGAGTCGTAGAAGAGGGGCCTGCAGATTGTGCTCTCAGCAAGCCTGTCGTCTAGTGGAAGACACTGGCCGGGACACAGAGCCCACGTGTGGACACCGCTGTGGGTTGGTGGCAGGGGTCGAGCAGGTGCCATCAGGCACATGAACGGTGGAGTCTTCAAAG___GTGTGAGCAGCTGCTGGAAGAGGAG(GTGCTCCTGAAGACACTGCGGCCGGCCCGCCTGTGCCCTTGGTGCCCTGGCTGCCTAGAGAGCCTCACCCCTGGGCCCTGGGGCCAGGACTCCAGGACTCTGACTACCTGCCCTCCCCCAGCCTCAGCGGCTGCACCTCCTCGTTAGTACTGATGCACTGACCTCGGCACACAGCTGGGAGGGGTTGGGGGCTGGGTCATGGCTGCTCCCAGGCCCCACCCAGGCTCCTGAGCCTAGAAGGTGAAAAGAGGACTCTCAGGGGCTCACAGGGGCTCTCACTGCTGGTTGGCCCTGCCCTCCCTTCCCCCTCAGCAGGGTGCCCGGAAGCTGGAACCTTGTTATCTGGGTAATTAGTTTCAGACCCTGCACTGAGGCCGGCCAGGTCTCGGGGCTGCCTCCCATAGGTTGTGCACCCTGACCCCGAGAGGGAGGCGAGGCGCTGCTTGTCGACAGCTAGAGGCTGGCCTGGGGAGCAGGTTTGGGGTGCCCTCCCACACTGCCCTCCCTGCCCCGGCCCATGCCCCCCAGGGCTGCCTGGGCCTGGTTATTGTGTGGGGCCTCCTGACCCAGCCAAGGGCACGAAGCTCTGGGAAGGGGATGCCCCCGAGGGTGCCAGTCCAGCTAGCTGCCCCACCCCTCAGGCCCAGCCTGGCCCCCAAGCTCCCCACTCTGGTGCCCCGAGCAGCCCTGTGGGCAAGCAGCCGCCGCCATGGCCGAGCACCTGGAGCTGCTGGCAGAGATGCCCATGGTGGGCAGGATGAGCACACAGGAGCGGCTGAAGCATGCCCAGAAGCGGCGCGCCCAGCAGGTGAAGATGTGGGCCCAGGCTGAGAAGGAGGCCCAGGGCAAGAAGGGTCCTGGGGAGCGTCCCCGGAAGGAGGCAGCCAGCCAAGGGCTCCTGAAGCAGGTCCTCTTCCCTCCCAGTGTTGTCCTTCTGGAGGCCGCTGCCCGAAATGACCTGGAAGAAG___TCCGCCAGTTCCTTGGGAGTGGGGTCAGCCCTGACTTGGCCAACGAGGACGGCCTGACGGCCCTGCACCAG___TGCTGCATTGATGATTTCCGAGAGATGGTGCAGCAGCTCCTGGAGGCTGGGGCCAACATCAATGCCTGTGACAGTGAGTGCTGGACGCCTCTGCATGCTGCGGCCACCTGCGGCCACCTGCACCTGGTGGAGCTGCTCATCGCCAG___TGGCGCCAATCTCCTGGCGGTCAACACCGACGGGAACATGCCCTATGACCTGTGTGATGATGAGCAGACGCTGGACTGCCTGGAGACTGCCATGGCCGACCGTG___GCATCACCCAGGACAGCATCGAGGCCGCCCGGGCCGTGCCAGAACTGCGCATGCTGGACGACATCCGGAGCCGGCTGCAGGCCGGGGCAGACCTCCATGCCCCCCTGGACCACGGGGCCACGCTG___CTGCACGTCGCAGCCGCCAACGGGTTCAGCGAGGCGGCTGCCCTGCTGCTGGAACACCGAGCCAGCCTGAGCGCTAAGGACCAAGACGGCTGGGAGCCGCTGCACGCCGCGGCCTACTGGGGCCAG___GTGCCCCTGGTGGAGCTGCTCGTGGCGCACGGGGCCGACCTGAACGCAAAGTCCCTGATGGACGAGACGCCCCTTG___ATGTGTGCGGGGACGAGGAGGTGCGGGCCAAGCTGCTGGAGCTGAAGCACAAGCACGACGCCCTCCTGCGCGCCCAGAGCCGCCAGCGCTCCTTGCTGCGCCGCCGCACCTCCAGCGCCGGCAGCCGCGG___GAAGGTGGTGAGGCGGGTGAGCCTAACCCAGCGCACCGACCTGTACCGCAAGCAGCACGCCCAGGAGGCCATCGTGTGGCAACAGCCGCCGCCCACCAGCCCGGAGCCGCCCGAGGACAACGATGACCGCCAGACAGGCGCAGAGCTCAGGCCGCCGCCCCCGGAG___GAGGACAACCCCGAAGTGGTCAGGCCGCACAATGGCCGAGTAGGGGGCTCCCCAGTGCGGCATCTATACTCCAAGCGACTAGACCGGAGTGTCTCCTACCAGCTGAGCCCCCTGGACAGCACCACCCCCCACACCCTGGTCCACGACAAGGCCCACCACACCCTGGCTGACCTGAAGCGCCAGCGAGCTGCTGCCAAGCTGCAGCGACCCCCACCTGAGGGGCCCGAGAGCCCTGAGACAGCTGAGCCTGGCCTGCCTGGTGACACGGTGACCCCCCAGCCTGACTGTGGCTTCAGGGCAGGCGGGGACCCACCCCTGCTCAAGCTCACAGCCCCGGCGGTGGAGGCTCCCGTGGAGAGGAGGCCGTGCTGCCTGCTCATGTGAGGCTGTTGCTCAGCATGCAGGGGCCCTGTCGCGGGCACAGCCCAAGGCTGCCTCCCCACGGTGCGTGCCCTGGTGCTGCGGGTGCAGCACGGAAACCCCGGCTTCTACTGTACAGGACACTGGCCCCTCTCAGGTCAGAAGACATGCCTGGAGGGATGTCTGGCTGCAAAGACTATTTTTATCCTGCAACTCTTGATAAAGGGCTGTTTTGCCATGGA)$ . 11BR055 ENSG00000107099.15 ENSG00000256709.2 +/+ +/- chr9:271729 chrX:106327754 CDS/splice-site exon translocation/5'-5' 2 1 0 15 3 medium out-of-frame . . . . ENSG00000107099.15 ENSG00000256709.2 ENST00000432829.6 . downstream downstream . ^(GACAGACGAGGTTTGCGCTTGGCTGGGCATGTTCCGCGGCTACTCTGCGGCGCGCCAGGCCCCCGCTTTCCGCACCCCGCGACCCTAGAAGCCACCGAACCGCCGGCGGGCCATGGCCACTCTGCCGAGCGCAGAGCGCCGCGCGTTCGCGCTCAAGATCAACAG___)GTATTCTTCAGCGGAAATAAGGAAACAGTTTACTCTCCCACCAAACCTTGGCCAGTACCATCGACAGAGCATAAGTACCTCTGGCTTCCCCTCTCTTCAACTA|ACCAGCATTCCCAGGTGGGAGCGAGAAGCCTCATCCATGGCTTTAGACTGGATGCACATGCGGTACTGCTCGGGGGTCAGCTCATCAGCACAGTGCTTTTCATGCCAGAGGTGGAAAAGACCAGGAACTGGATTCCGAATAACAATGAGGTCACCAC___GGGAAACTTGAGAGCTGATGGATCTGTTGGAAAAGATTCCTTCGTGACCGACAAGTGGC MATLPSAERRAFALKINRYSSAEIRKQFTLPPNLGQYHRQSISTSGFPSLQL|tsiprwereassmaldwmhmrycsgvsssaqcfscqrwkrpgtgfritmrspret* 11BR055 ENSG00000172785.18 ENSG00000256709.2(94724),ENSG00000202407.1(4020) -/- ./+ chr9:146102 chrX:106422548 CDS/splice-site intergenic translocation 2 0 0 215 3 medium out-of-frame . CobW/HypB/UreG__nucleotide-binding_domain(100%)| . . ENSG00000172785.18 . ENST00000377400.8 . upstream upstream . ^(AAGGGGCGAGGCGCTTCTCGTCCAGAGCCCAGGTAATCCGGGCGGGATCAGCGAGCGTCGCGATGTGATGACGTCAGGCCCCGGGCAGGCCGGGAGTGGCGTGCTGGGCGTGCGCGGCTGCGGTACGGCGTGTTGGTCCCAGCGGTTCAGCTGAGGTAGGGACGTGCTGTAGGCCGGAATGTTACCGGCTGTTGGATCTGCGGATGAGGAGGAGGATCCTGCGGAGGAGGATTGTCCTGAATTGGTTCCCATTGAGACGACGCAAAGCGAGGAGGAGGAAAAGTCTGGCCTCGGCGCCAAGATCCCAGTCACAATTATCACCGGGTATTTAG___GTGCTGGGAAGACAACACTTCTGAACTATATTTTGACAGAGCAACATAGTAAAAGAGTAGCGGTCATTTTAAATGAATTTGGGGAAG___GAAGTGCGCTGGAGAAATCCTTAGCTGTCAGCCAAGGTGGAGAGCTCTATGAAGAGTGGCTGGAACTTAGAAACGGTTGCCTCTGCTGTTCAGTGAA___GGACAGTGGCCTTAGAGCTATTGAGAATTTGATGCAAAAGAAGGGGAAATTTGATTACATACTGTTAGAGACCACTGGATTAGCAGACCCTG___GTGCAGTGGCTTCTATGTTTTGGGTTGATGCTGAATTAGGGAGTGATATTTATCTTGATG___GTATCATAACTATTGTGGATTCAAAATATGGATTAAAA___CATTTAACAGAAGAGAAACCTGATGG)CCTTATCAATGAAGCTACTAG___gCAAGTTGCTTTGGCAGATGCCATTCTCATTAATAAAACAGACCTGGTTCCAGAAGAAGATGTAAAGAAATTAAGAACGACAATTAG___ATCCATAAATGGACTAGGACAAATCTTAGAAACACAAAGATCAAG___AGTTGATCTCTCTAATGTATTAGATCTTCATGCCTTTGATAGTCTCTCTGGAATAAG|CTTGAGGATCATGTCGGAAGGAAACTTAATTTGCGAAAGGTACTCTCTACAAGAGCTCACTGGTCAGAAAATGATCATCCTACTCCAGATGACGCA MLPAVGSADEEEDPAEEDCPELVPIETTQSEEEEKSGLGAKIPVTIITGYLGAGKTTLLNYILTEQHSKRVAVILNEFGEGSALEKSLAVSQGGELYEEWLELRNGCLCCSVKDSGLRAIENLMQKKGKFDYILLETTGLADPGAVASMFWVDAELGSDIYLDGIITIVDSKYGLKHLTEEKPDGLINEATRQVALADAILINKTDLVPEEDVKKLRTTIRSINGLGQILETQRSRVDLSNVLDLHAFDSLSGIs|lrimsegnliceryslqeltgqkmiillqmt 11BR055 ENSG00000197753.11 ENSG00000204140.10 +/+ +/+ chr6:35797459 chr6:35786998 5'UTR/splice-site CDS/splice-site duplication 1 1 0 14 117 medium . . . . . ENSG00000197753.11 ENSG00000204140.10 ENST00000651132.1 ENST00000373861.6 downstream upstream . GGCTGGCCaTGGGCAGAGGCACAGCTGTGGCCAATCTGCTGTGGGGCGGTTCCTGATAAGGAAACTGG|GAGCTCAAGGAGTCTTGCATCCGGAACCAGGACTGCGAGACTGGCTGCTGCCAACGTGCTCCAGACAATTGCGAGTCGCACTGCGCGGAGAAGGG(GTCCGAGGGCAGTCTGTGTCAAACGCAG___GTGTTCTTTGGCCAATATAGAGCGTGTCCCTGCCTGCGGAACCTGACTTGTATATATTCAAAGAATGAGAAATGGCTTAGCATCGCCTATGGCCGTTGTCAGAAAATTGGAAGGCAGAAGTTGGCTAAGAAAATGTTCTTCTAGTGCTCCCTCCTTCTTGCTGCCTCCTCCTCCTCCACCTGCTCTCCTCCCTACCCAGAGCTCTGTGTTCACCCTGTTCCCCAGAGCCTCCACCATGAGTGGAGGGAAGTGGGGAGTGATTGAAATAAAGAGCTTTTTCAATG)$ . 11BR056 ENSG00000177728.17 ENSG00000121101.15 +/+ -/+ chr17:75471929 chr17:58651407 CDS/splice-site intron duplication/5'-5' 10 21 0 75 61 high out-of-frame . . . . ENSG00000177728.17 ENSG00000121101.15 ENST00000314256.12 . downstream upstream duplicates(3) ^(CCCCTTAGAGTTGCCAGTAACGGACATGGCTGCGGCCCCCGGAGGAGGGGACGTGAAGTGAGGAGGGGGTTGGGAGGGGAGAGGACGCGGGCGAGGAAGACCAGCCCCGGGGCCCCG___)ATGTTGTGACTGTGACAGACTCACTGGGGTTTGTACATGCTGGGGAGGAGCCTTCCTTTCAGGGGTGACCACATTCATCTGGGCATGCCTGCAGTACTCTTGGCCCATGGACCTGAAGGAGAAGCACCTG|ACTGCTTCAGCCATTGAGCCATGTCTGCCTGTATCCTTCAGCTAGAAAACCCCAGAAAAAAGGCACCAAGTGGAAATAAGGAGCAAGGAAGGGGACAGCTGTGAACACTGGCCTCCTTAGTCAACCACGGGTGTCAGAGAACTTAATGGATGGAGCAGATTTCAAGGAAAGAAATCAG MDLKEKHL|tasaiepclpvsfs* 11BR056 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 8 14 1 53 35 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCA)AGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR056 ENSG00000234869.1(29094),ENSG00000075240.17(43096) ENSG00000075240.17 ./+ +/+ chr22:46577290 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 4 14 0 20 36 high . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream mismatches(1) CGGCGCCGCTGGGCTCCCGGGCGGGCGGCAGGCGTAGCGCGGCCGGGCGGCCGGCGAGGGGGGCGCCGCGGCGGGTGGATGAGAGTTGGCCCCGATATCCGCTCAGG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGG(ACAGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCATCATGGCCACAGGAGTCCAGGACTTTAACCGGACAGAGTTTGATCGACTGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC___AGGAGGAGCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 11BR056 ENSG00000108774.15 ENSG00000173757.10 -/- -/- chr17:42154893 chr17:42232137 5'UTR/splice-site 5'UTR/splice-site duplication 7 10 0 414 89 high . . |SH2_domain(100%),STAT_protein__DNA_binding_domain(100%),STAT_protein__all-alpha_domain(100%),STAT_protein__protein_interaction_domain(100%) . . ENSG00000108774.15 ENSG00000173757.10 ENST00000393860.7 ENST00000293328.8 upstream downstream duplicates(1) ^(GAGTATTGAGGGGCGGGGCGGAGGTGGAGATCCGGATCCGGAGCGGCTGAAAGGCGGAAGTGGAG)GCCGGAGCCTGGGACACCGCCGGCGGGGAGAGAAGCGGATCCCGTCCGAGCCCCGGCCCCAAGTAACGCCGCCGCCCCGGAGCCGCC|ATTGTAAACCATGGCTGTGTGGATACAAGCTCAGCAGCTCCAAGGAGAAGCCCTTCATCAGATGCAAGCGTTATATGGCCAGCATTTTCCCATTGAGGTGCGGCATTATTTATCCCAGTGGATTGAAAGCCAAGCATG___GGACTCAGTAGATCTTGATAATCCACAGGAGAACATTAAGGCCACCCAGCTCCTGGAGGGCCTGGTGCAGGAGCTGCAGAAGAAGGCAGAGCACCAGGTGGGGGAAGAgGGGTTTTTACTGAAGATCAAGCTGGGGCACTATGCCACACAGCTCCAG___AACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCAT(CCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAAT___GGTAGCTCTCCAGCTGGAAGCCTTGCTGATGCCATGTCCCAGAAACACCTCCAGATCAACCAGACGTTTGAGGAGCTGCGACTGGTCACGCAGGACACAGAGAATGAGTTAAAAAAGCTGCAGCAGACTCAGGAGTACTTCATCATCCAGTACCAGGAGAGCCTGAGGATCCAAG___CTCAGTTTGGCCCGCTGGCCCAGCTGAGCCCCCAGGAGCGTCTGAGCCGGGAGACGGCCCTCCAGCAGAAGCAGGTGTCTCTGGAGGCCTGGTTGCAGCGTGAGGCACAGACACTGCAGCAGTACCGCGTG___GAGCTGGCCGAGAAGCACCAGAAGACCCTGCAGCTGCTGCGGAAGCAGCAGACCATCATCCTGGATGACGAGCTGATCCAGTGGAAGCGGCGGCAGCAGCTGGCCGGGAACGGCGGGCCCCCCGAGGGCAGCCTGGACGTGCTACAGTCCTG___GTGTGAGAAGTTGGCCGAGATCATCTGGCAGAACCGGCAGCAGATCCGCAGGGCTGAGCACCTCTGCCAGCAGCTGCCCATCCCCGGCCCAGTGGAGGAGATGCTGGCCGAGGTCAACGCCACCATCACGGACATTATCTCAGCCCTGGTGACCAG___CACGTTCATCATTGAGAAGCAGCCTCCTCAGGTCCTGAAGACCCAGACCAAGTTTGCAGCCACTGTGCGCCTGCTGGTGGGCGGGAAGCTGAACGTGCACATGAACCCCCCCCAGGTGAAGGCCACCATCATCAGTGAGCAGCAGGCCAAGTCTCTGCTCAAGAACGAGAACACCCGCAA___TGATTACAGTGGCGAGATCTTGAACAACTGCTGCGTCATGGAGTACCACCAAGCCACAGGCACCCTTAGTGCCCACTTCAGGAATATG___TCCCTGAAACGAATTAAGAGGTCAGACCGTCGTGGGGCAGAGTCGGTGACAGAAGAAAAATTTACAATCCTGTTTGAATCCCAGTTCAGTGTTGGTGGAAATGAGCTGGTTTTTCAAGTCAAG___ACCCTGTCCCTGCCAGTGGTGGTGATCGTTCATGGCAGCCAGGACAACAATGCGACGGCCACTGTTCTCTGGGACAATGCTTTTGCAGAGCCT___GGCAGGGTGCCATTTGCCGTGCCTGACAAAGTGCTGTGGCCACAGCTGTGTGAGGCGCTCAACATGAAATTCAAGGCCGAAGTGCAGAGCAACCGGGGCCTGACCAAGGAGAACCTCGTGTTCCTGGCGCAGAAACTGTTCAACAACAGCAGCAGCCACCTGGAGGACTACAGTGGCCTGTCTGTGTCCTGGTCCCAGTTCAACAGG___GAGAATTTACCAGGACGGAATTACACTTTCTGGCAATGGTTTGACGGTGTGATGGAAGTGTTAAAAAAACATCTCAAGCCTCATTGGAATGATGG___GGCCATTTTGGGGTTTGTAAACAAGCAACAGGCCCATGACCTACTCATTAACAAGCCAGATGGGACCTTCCTCCTGAGATTCAGTGACTCAGAAATTGGCGGCATCACCATTGCTTGGAAGTTTGATTCTC___AGGAAAGAATGTTTTGGAATCTGATGCCTTTTACCACCAGAGACTTCTCCATTCGGTCCCTAGCCGACCGCTTGGGAGACTTGAATTACCTTATCTACGTGTTTCCTGATCGGCCAAAAGATGAAGTATACTCCAAATACTACACACCAGTTCCCTGCGAGTCTGCTACTG___CTAAAGCTGTTGATGGATACGTGAAGCCACAGATCAAGCAAGTGGTCCCTGA___GTTTGTGAACGCATCTGCAGATGCCGGGGGCGGCAGCGCCACGTACATGGACCAGGCCCCCTCCCCAGCTGTGTGTCCCCAGGCTCACTATAACATGTACCCACAGAA___CCCTGACTCAGTCCTTGACACCGATGGGGACTTCGATCTGGAGGACACAATGGACGTAGCGCGGCGTGTGGAGGAGCTCCTGGGCCGGCCAATGGACAGTCAGTGGATCCCGCACGCACAATCGTGACCCCGCGACCTCTCCATCTTCAGCTTCTTCATCTTCACCAGAGGAATCACTCTTGTGGATGTTTTAATTCCATGAATCGCTTCTCTTTTGAAACAATACTCATAATGTGAAGTGTTAATACTAGTTGTGACCTTAGTGTTTCTGTGCATGGTGGCACCAGCGAAGGGAGTGCGAGTATGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTTTGCACGTTATGGTGTTTCTCCCTCTCACTGTCTGAGAGTTTAGTTGTAGCAGAGGGGCCACAGACAGAAGCTGTGGTGGTTTTTACTTTGTGCAAAAAGGCAGTGAGTTTCGTGAAGCCTGGAAGTTGGCCATGTGTCTTAAGAGTGGCTGGACTTTGACATGTGGCTGTTTGAATAAGAGAAGGACAAAGGGAGGAGAAAGCACATGTGCTCCAGTGAGTCTTCGTCACTCTGTCTGCCAAGCAATTGATATATAACCGTGATTGTCTCTGCTTTTCTTCTGAAATGTAGATAACTGCTTTTTGACAAAGAGAGCCTTCCCTCTCCCCCACCCCTGTGTTCTTGGGTAGGAATGGGAAAAGGGGCAACCTACAAAGATTGTTGGGGCAAGGGAAGTCACAAGCTTTCGGATGGGCGGTGGCTTTTCACAAAACATTTAGCTCATCTTATTCTCTCTTTGTCCTCTCTCCCCTCCTGCCCGCCCGCACCCTGGAATTGCCACTCAGTTCCTCTGGGTGTGCACATATGTTTGGAGAAATAGAGGAGAGAAAAGAGGGCCACGTAACTGAGAGCTTACAGTGCCAATGCCGTTTGTGTTCTGGCCAGAGTGGAGTGCGCAGCCCTGACTCCCAGGCGCTGAGATTGTTGCCTGGTTACCCAGGAAGCTGCTGTTCCGGCTGCCCAGCCTTTCTCTGAGCCAGCGGATGCACAGTCCGTGGCCTTCTTCAGGCTTATTGATGATGCTTTTTGCAAATGTTGAATCATGGTTCTGTTTCTAAGTTGGATCTTTTTTGTTTTCTCCTTGCCACCCTAATTTGACATCAAAATTCTCTCTTGTGCATTGGGCCCTGGGTCATTCAAACCCAGGTCACCTCATTCCCCTTCTCTGTTCACACCTAATGTCTTGAAGAGTAGGTAGCAGCAGTGTGGGCTGAACCTAGGCCAGCTTGCTTAGCGGGTCACCCTGCTGTGAAGTCCTGGCAGGTGTTGGTAATGTGTGGAAATGCAGTCAGCAAGTTTGCTGGGGAGTTTGATAAAAGTATAAAACAAAACAAAAAAAGCCTCGGTATAATTTTGTTCCACGACTTCTTCTGTAGCTTTACACCAGAAGGAAGGAATGGGCTACAGCAGGTAGTGGAGGAAGAGGGGGGTGAGCAGGTGTATTAAAATAGCTTACGGGTAAGGCCTAAAAGGTCACCCCTCGGCCCCCTCTCCAAAAGAAGGGCATGGGCACCCCCAGGAGAGGATGGCCCCAAAAACCTTATTTTTATACATGAGAGTAAATAAACATATTTTTTTTACAAAAATAACTTCTGAATTTATCAGTGTTTTGCCGTTAAAAATATTCCTCTATAGTAAATTATTTATTGGAAGATGACTTTTTTAAAGCTGCCGTTTGCCTTGGCTTGGTTTCATACACTGATTTATTTTTCTATGCCAGGCAGTAGAGTCTCTCTGCCTCTGAGGAGCAGGCTACCCGCATCCCACTCAGCCCCTCCCTACCCCTCAAGATTTGATGAAAATTCCAACCATGAGGATGGGTGCATCGGGGAAGGGTGAGAAGGAGAGCCTGCCTGCTCAGGGATCCAGGCTCGTAGAGTCACTCCCTGCCCGTCTCCCAGAGATGCTTCACCAGCACCTGCCTCTGAGACCTCGCTCTCTGTTCCAGCAACCCTGGTTGGGGGGTCAGACTTGATACACTTTCAGGTTGGGAGTGGACCCACCCCAGGGCCTGCTGAGGACAGAGCAGCCAGGCCGTCCTGGCTCACTTTGCAGTTGGCACTGGGTTGGGGAGGAAGAGAGCTGATGAGTGTGGCTTCCCTGAGCTGGGGTTTCCCTGCTTGTCCAGTTGTGAGCTGTCCTCGGTGTTACCGAGGCTGTGCCTAGAGAGTGGAGATTTTTGATGAAAGGTGTGCTCGCTCTCTGCGTTCTATCTTCTCTCTCCTCCTTGTTCCTGCAAACCACAAGATAAAGGTAGTGGTGTGTCTCGACCCCATCAGCCTCTCACCCACTCCCAGACACACACAAGTCCTCAAAAGTTTCAGCTCCGTGTGTGAGATGTGCAGGTTTTTTCTAGGGGGTAGGGGGAGACTAAAATCGAATATAACTTAAAATGAAAGTATACTTTTTATAATTTTTCTTTTTAAAACTTGGTGAAATTATTTCAGATACATATTTTAGTGTCAAGGCAGATTAGTTATTTAGCCACCAAAAAAAAGTATTGTGTACAATTTGGGGCCTCAAATTTGACTCTGCCTCAAAAAAAAGAAATATATCCTATGCAGAGTTACAGTCACAAAGTTGTGTATTTTATGTTACAATAAAGCCTTCCTCTGAAGGGA)$ . 11BR056 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 8 8 0 15 17 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream . GTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGAgAGCCAGGtAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTtCtTTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCG(GCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11BR056 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 7 0 195 49 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAA)GAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR056 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 11 0 24 30 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(3),mismappers(2) GCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCT(ATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR056 ENSG00000177728.17 ENSG00000108384.15 +/+ +/+ chr17:75471929 chr17:58694931 CDS/splice-site CDS/splice-site duplication 3 9 0 75 83 high out-of-frame . |Rad51(100%) . . ENSG00000177728.17 ENSG00000108384.15 ENST00000314256.12 ENST00000337432.9 downstream upstream duplicates(3) ^(CCCCTTAGAGTTGCCAGTAACGGACATGGCTGCGGCCCCCGGAGGAGGGGACGTGAAGTGAGGAGGGGGTTGGGAGGGGAGAGGACGCGGGCGAGGAAGACCAGCCCCGGGGCCCCG___)ATGTTGTGACTGTGACAGACTCACTGGGGTTTGTACATGCTGGGGAGGAGCCTTCCTTTCAGGGGTGACCACATTCATCTGGGCATGCCTGCAGTACTCTTGGCCCATGGACCTGAAGGAGAAGCACCTG|AAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGC(TTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATG___TATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGG___AACACCGAAAAGCTTTGGAGGATTTCACTCTTGATAATATTCTTTCTCATATTTATTATTTTCGCTGTCGTGACTACACAGAGTTACTGGCACAAGTTTATCTTCTTCCAGATTTCCTTTCAGAACACTCAAAG___GTTCGACTAGTGATAGTGGATGGTATTGCTTTTCCATTTCGTCATGACCTAGATGACCTGTCTCTTCGTACTCGGTTATTAAATGGCCTAGCCCAGCAAATGATCAGCCTTGCAAATAATCACAGATTAGCT___GTAATTTTAACCAATCAGATGACAACAAAGATTGATAGAAATCAGGCCTTGCTTGTTCCTGCATTAG___GGGAAAGTTGGGGACATGCTGCTACAATACGGCTAATCTTTCATTGGGACCGAAAGCAAAG___GTTGGCAACATTGTACAAGTCACCCAGCCAGAAGGAATGCACAGTACTGTTTCAAATCAAA___CCTCAGGGATTTAGAGATACTGTTGTTACTTCTGCATGTTCATTGCAAACAGAAGGTTCCTTGAGCACCCGGAAACGGTCACGAGACCCAGAGGAAGAATTATAACCCAGAAACAAATCTCAAAGTGTACAAATTTATTGATGTTGTGAAATCAATGTGTACAAGTGGACTTGTTACCTTAAAGTATAAATAAACACACTATGGCATGAATGAATCCAGATCATATGAAGTGAATGGGAAAAATACCTAAATATGATTCTGTGAAAGTTTTTCTAAAGCAGTATTCTGCAATTATATTTTACCCTGTTTTCATTTTCAGTAACATTCAGTAGAGATGATTATTATATTTCACAAATGTGGAAAGCTGATCTCATGTGGCCAGTCTGAATTTACCATTCATACTGTTTTCACCCCTTTCTTTCCCAGTTGCCTATAAAATCTTAGGAAGAAACATATCATATTCTTATTGTGTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGATTCTCGCTCTGTAGTCCAGGCTGGAGTGCAATGGCGCAATCTCTGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCATCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGCACCTGCCATCGTGCCTGGCTAATTTTTTGTATTTTTGTAGAGACAGAGTTTTACCATGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCCCTGCCTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACTGTGCCCAGCCATGTTCTTTTTAAATGTAAATTTGATAATTCTTTAAAATTACCCGCTTTTATAATTATAAAAGAGAAGCCAGCACCATGAGTCAGCATATTATTCTGTTCAGTTTTATAGGTAAGATACAAATTTTAGGTGACCAAACTGATTTTAGTGACCTCAATCCTAAAATCTAAGCCATTTGTTTAGCTTTTAATGACATTTTATAATGTTAAAGGGAGGACTTTGGAGCTGTTATCTCATCTAGAGATTGTTTGGAACATATGTCTTCCAGAATAGGTTGATAAGCTCACAATCATTTATTGCTACGTTTTTGTTTTTGTTTTGAGACAAGGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTCACTTCAGCCTCCTGAGTAGCTGGGACTACAGGGAGGCACTACCATGCCCTGCTAATTTTTGGATTTTTTTGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCGATCCTCTTGCCTTGTCTTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCTGGCCTCATTTCTATATTTTGAAACACGGTATGATCCATTCTAGAATTCTAGTTGTTATGTTGACATTTTTCTTTGAATAATCTTAACTTTGCTTAAATAAATTAAAGATTTCAATTCTC)$ MDLKEKHL|klgylkqkp* 11BR056 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 4 7 0 22 15 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCAT)TGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTGGTGAGGCAGAGCATATGGAAAATG___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATGGCCAC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvgeaehmendsrplpdvaltgkctrecdeyg 11BR056 ENSG00000101972.19 ENSG00000235437.8 +/+ -/+ chrX:124025918 chrX:63283673 CDS/splice-site intron duplication/5'-5' 4 3 0 120 10 high out-of-frame . . . . ENSG00000101972.19 ENSG00000235437.8 ENST00000371160.5 . downstream upstream . ^(GGGTGGCCCAAAATGGAGAACGCGGAGCAGCGCAAGATGGAGGCTCCGCTTCTCTGTGTAGCAGTAGATTTAGGTTCCTTTTCTCCGGCAGGCTCCTAAGCCTAGGAGAGCCCGAACTGGAG___CGCGTGGTGGGGGAACTGCTGGGGAAGGCGATTGGCATCGATCTCTCCATCCCTTCCGAGGCCCGACTTCG___GAATTGTCTTAGAAGAAAGAAGGCAAGCC)ACCATTTTACCCACGTAAATATATGAATATATTTCTGACATTGAGGTGTTCCAGAAGATGATAAAGAAATGATAGCAGCTCCAGAAATACCAACTGATTTTAATCTACTACA___GGAGTCAGAAACACATTTTTCTTCTGACACAGATTTTGAAGATATCGAAGGAAAAAACCAAAAGCAAGGCAAAGGCAAA|GGATCTCTGGCTTGCGTTTGCAGCACAGCCACCCCACCTTCAGCTGATCATCCCAGATCCAGCAGCAGGTTCTGTAGTTCTCTGAGGTGGAGTTCCCAGAGTCAACTGACAGCTCCTCTGCCATGACACCTTGCCCTTGCTGCCCTTGGGCTGGGGAC MIAAPEIPTDFNLLQESETHFSSDTDFEDIEGKNQKQGKGK|gslacvcstatppsadhprsssrfcsslrwssqsqltaplp* 11BR056 ENSG00000067191.16 ENSG00000121067.19 -/- -/- chr17:39194884 chr17:49622876 CDS/splice-site 5'UTR/splice-site duplication 4 2 0 10 35 high out-of-frame . |BTB/POZ_domain(100%),MATH_domain(100%) . . ENSG00000067191.16 ENSG00000121067.19 ENST00000622445.4 ENST00000347630.6 upstream downstream . ^(GAGATGCTGAGCCTACGGGGGAGGCGGCGGCGGCAGTGGAGAGAGCGGGAGGAGCGAGGGAAGGCAGGAAGGAGGCAGCCGAAGGCCGAGCTGGGTGGCTGGACCGGGTGCTGGCTGCGCCGCGCTGCTTTCGGCTCCCACGGCCTCTCCCATGCGCTGAGGGAGCCCGGCTGGGCCGGGCCGGCGGCGGGAGGGGAGGCTCCTCTCCATGGTCCAGAAGACCAG)CATGTCCCGGGGCCCTTACCCcCCCTCCCAGGAGATCCCCATGGAGGTCTTCGACCCCAGCCCGCAG___GGCAAATACAGCAAGAGGAAAGGGCGATTCAAACGGTCAGATGGGAGCACGTCCTCGGATACCACATCCAACAGCTTTGTCCGCCAG|GGTGAAGAGGGAACAGAAATCTTTGCCCCCTGACTTTGGAAATCTCGTTTAACCTTCAAACTGGCGATGTCAAG(GGTTCCAAGTCCTCCACCTCCGGCAGAAATGTCGAGTGGCCCCGTAGCTGAGAGTTGGTGCTACACACAG___ATCAAGGTAGTGAAATTCTCCTACATGTGGACCATCAATAACTTTAGCTTTTGCCGGGAGGAAATGGGTGAAGTCATTAAAAGTTCTACATTTTCATCAGGAGCAAATGATAAACTGAAATG___GTGTTTGCGAGTAAACCCCAAAGGGTTAGATGAAGAAAGCAAAGATTACCTGTCACTTTACCTGTTACTGGTCAGCTGTCCAAAGAGTGAAGTTCGGGCAAAATTCAAATTCTCCATCCTGAATGCCAAGGGAGAAGAAACCAAAGCTATGG___AGAGTCAACGGGCATATAGGTTTGTGCAAGGCAAAGACTGGGGATTCAAGAAATTCATCCGTAGAGATTTTCTTTTGGATGAGGCCAACGGGCTTCTCCCTGATGACAAGCTTACCCTCTTCTGCGAG___GTGAGTGTTGTGCAAGATTCTGTCAACATTTCTGGCCAGAATACCATGAACATGGTAAAGGTTCCTGAGTGCCGGCTGGCAGATGAGTTAGGAGGACTGTGGGAGAATTCCCGGTTCACAGACTGCTGCTTGTGTGTTGCCGGCCAGGAATTCCAGGCTCACAAGGCTATCTTAGCAG___CTCGTTCTCCGGTTTTTAGTGCCATGTTTGAACATGAAATGGAGGAGAGCAAAAAG___AATCGAGTTGAAATCAATGATGTGGAGCCTGAAGTTTTTAAGGAAATGATGTGCTTCATTTACACGGGGAAGGCTCCAAACCTCGACAAAATGGCTGATGATTTGCTGGCAGCTGCTGACAAG___TATGCCCTGGAGCGCTTAAAGGTCATGTGTGAGGATGCCCTCTGCAGTAACCTGTCCGTGGAGAACGCTGCAGAAATTCTCATCCTGGCCGACCTCCACAGTGCAGATCAGTTGAAAACTCAGGCAGTGGATTTCATCAACTA___TCATGCTTCGGATGTCTTGGAGACCTCTGGGTGGAAGTCAATGGTGGTGTCACATCCCCACTTGGTGGCTGAGGCATACCGCTCTCTGGCTTCAGCACAGTGCCCTTTTCTGGGACCCCCACGCAAACGCCTGAAGCAATCCTAAGATCCTGCTTGTTGTAAGACTCCGTTTAATTTCCAGAAGCAGCAGCCACTGTTGCTGCCACTGACCACCAGGTAGACAGCGCAATCTGTGGAGCTTTTACTCTGTTGTGAGGGGAAGAGACTGCATTGTGGCCCCAGACTTTTAAAACAGCACTAAATAACTTGGGGGAAACGGGGGGAGGGAAAATGAAATGAAAACCCTGTTGCTGCGTCACTGTGTTCCCTTTGGCCTGGCTGAGTTTGATACTGTGGGGATTCAGTTTAGGCGCTGGCCCGAGGATATCCCAGCGGTGGTACTTCGGAGACACCTGTCTGCATCTGACTGAGCAGAACAAATCGTCAGGTGCCTGGAGCAAAAAGGAAAAAAAAAAAAGAAAGGACATTGAGTTTTAACAGAAGGGAAAAGGAAAGAAGAAAAGATTTTTGCAGAATTTCTCAAAAATCAGTTTGTGGATTCCAGTAGTATTTATATTGAGAGAAACAAATTTTAGTCCTTCTAACTGTGCTAAAACTTGGATATTTGTGAAAACTCCTTACCACCATACAAGCATCAGAAGAGCTCTCTTGTTGTTAGCACTTATTGTTTGCAAGAACAGAATACATCCTTTTATCCTTTTATGAAAAATGACAAGTGAAGGCAAAAGGGGAAGGTTATTTGATCTGGAAGATGAGTGTTCTGATGTGGTGGCTTTTGCAAAAATCTTTATTGGTGTTGAAAACTGGAAAAAATAACTCATCCAGAATTCATATTGTCTTGACAAGAACTATGGTTCTCTGTTTTTAGATATTGTGGAAAATGTTTTTGGGCATTTTTCTCTGATTTTATTTCTTCTCCCCCACCCCTTTTTCTAAAAAACAAACAAAAAAAAAAACACACAAAACAAAAACAGAACAAAAGAAGAGAGAAGGAAATTTTATCAATTAAAAATGCTGTGTGATAAAATCCCAGCCCAGATTGCTCAGCTGTTTGTACCTGACTTGCCGCCTGCATAGGAGCCAGTTCTGTTCCTTCTGACTAGCCCCTCTTCCTCCAGGGGAGAACTTCCAAATGTTAATTTTTTTTTTTTTGAAAATATAAATAATTACTATTTTGTACTGTGTGGTATCTCTGGTCTTTTGTTTCACTCACCTGCCTTGTCTCTTGGGTCTGAGTCCCTTGCTTAAGGGATTTTGAAGTCCTAGTTTTCAGCTTGCAGAGATTATGTCTGAAATGCCTAATGAGTCGCAGGGATTTGTTGAGACTCCGTAATCTCAAGTTCTCTTTGTGAGCTATCAGCATCTGCCAGTCTCTTGTCCTCCCTGAGTATCTCACAGTCCATATCCTGATGAGGGATCAGGCCCCTACCTCTGCCAAGGCAAGTAATGGTAGTGGGCTTTTAAACTGCCCCCCGTATGTTTTAAGACCTAATCCCCACCTCCCTTCTTCTAACTAAATATAAAAAGATCCAGGGGACATAAATGTGGAGATTAAATAAAGGGAAATTATTGTCTCT)$ MVQKTSMSRGPYPPSQEIPMEVFDPSPQGKYSKRKGRFKRSDGSTSSDTTSNSFVRQ|geegteifap* 11BR056 ENSG00000173757.10 ENSG00000153982.11 -/- +/+ chr17:42276248 chr17:59270936 5'UTR/splice-site CDS/splice-site inversion 0 18 0 45 68 medium . . |Glycerophosphoryl_diester_phosphodiesterase_family(100%) . . ENSG00000173757.10 ENSG00000153982.11 ENST00000293328.8 ENST00000284116.9 upstream upstream duplicates(1) ^(GGCGGCCGGAGCCGTCACCCCGGGCGGGGACCCAGCGCAGGCAACTCCGCGCGGCGGCCCGGCCGAGGGAGGG)AGCGAGCGGGCGGGCGGGCAAGCCAGACAGCTGGGCCGGAGCAGCCGCGGGCGCCCGAGGGGCCGAGCGAG|GCTAAAAGAACCACACACCATGTCCAGAAGTCAAAAGTTTCTCATCTGGCTTTCTGATCT___CTTACTAATGAGGAAAGCTTTGTTTGACCACCTAACTGCTCGAGGCATTCAA___GTGTATATTTGGGTATTAAATGAAGAACAAGAATACAAAAGAGCTTTTGATTTGGGAGCAACTGGGGTGATGACAGACTATCCAACAAAGCTTAGGGATTTTTTACATAACTTTTCAGCATAGAAAAAGAGGTACTTAGAAGTATTGAAGGAAAAAATGAAGACCTAAGAAAAAAATATTTCAT(GATCATTTCCCTAAGCCATTTCCAGAATGGTAAAAGGTTTAATCAGTTTTTATTACCTCATTTTTAAGCCTGTATGAGAATGTAGAAACTATATATTATATGTATATTTATTTTAAATAATATTGTATATTTTATGTTTGTAAATTGTTTAGAAAGATAATTGGTTATGAGATGTAAGTTTTAATTTCTTAATGTGCATTTTTGTTTCTAGATCTTATACAGAAATCTTGATTAATAACATACACAGAAATGTACATACTACATCATCTACAGAAATCTTGATCAATAACCTAGAAACTAGGTTATCTAGGTTATTGATCAAGATTTCTGTAGATGATGCAGTGTTCTATCATAAGTAATTCTGGAATCAAAGACTATTGGATACATTTGGCATTGGGCTGAGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCGGATCATCTGAAGTCAGGAGTTAAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAAATTAACCATGCGTGGTGGTACACGTCTGTCATCCCAGCAGCTCTTAAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGCAGAGGCTGTAGTGAGCCAAGATAGCACCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCACCTTAGTCCCAGCTACTCGGGAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCTACAGAGCAAGACTCCGTCTCAAAAAAAGAAAAAAAGAAAAAAAATTGGCAATAGTCTTCACTGGAATACAATCAATTAGTAAAAGATTTTTTTTTTTTTTTTGACATGTAGTCTTGCTCTGTCGCCGAGGCCGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCCAGCAATTCTCCTGCCTCTGCCTCCCGAGTACCTGGGATTACAGGTGCCTGCTACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCACGTTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGTTTGAACCACTGCACCCGGCCAGTAAAAGAAATTTTGAAGGCCATTGCAGCTATTTGGTAGTGTCTTGTTATTTCTAGGTGTACCTTAGTTAAAGAGGAAAAATAAAACGGAAAAAAGCTTGGAAATCAGTGATGTGTAGTTATTTGGCAAGTTATACATAATCAGCAGCAGCCAGGCTCAAGAAAATAAAAGTTGATTAGTTGATCAGAAATAAAATCTGTAGAGTGAATTAGATTTCTGAGTTGTTGTTGTTAATGGAACATTCTATTTGAGACCTTTTTCAGGTGTGTAGCAATTCTACCATGTCCATTTTTTTAAGCATTAAAAAGGAACTTACCAGTTGTAAATTAAGACAAGATCCAAATAGTCATATTTTTGTGTTTCCTCTAAAAAAATGTAAGATTTCCATTTTTGGCACTGACTAACTGAGCCTACATCTAGATTTTAAATACCATCTTGAATCCTAATAATTAAACTGATGAAAGTGCATATCATTGTTCCTAACATTTATGAACCCCCATAAAGATGTTCCTGATCTTTAAAACTCATTAATCTGAGTATTAAGTAGAAACAGAATTTTCCAAAGCATTAGACATCACTTTCTCAGTTTATCTGAGGTGACTTCGTGTACATCTGTTTCTAATATATTTGACTAATTTTCATGATCTCAGATTGTGAGGTAAATGTAATCTGGAATAATAAGTGTCTTTTACCTAGATTACATCTCTCATTTGGAGTTTGGCAATGAAACTGCTATGAAGAATGACTGTACTCTCCTATCTGTCCCTGGATGACATAAATATCATTTGCTTTGTTGTTTAAACTGAAATAAAGTTTTCCAAGAACAAA)$ . 11BR056 ENSG00000197961.11 ENSG00000177728.17 -/- +/+ chr19:9584461 chr17:75471800 5'UTR/splice-site 5'UTR/splice-site translocation 0 13 0 8 71 medium . . |Cation_transporting_ATPase__C-terminus(100%) . . ENSG00000197961.11 ENSG00000177728.17 ENST00000320451.6 ENST00000314256.12 upstream upstream . ^(AT)CTTTTCCGGCGCTGGCTCCGCATGGTCAGTGCCATTTCGCCTTTATCGTGGTGGAGTCCACCCTGGCTGTG|ATGTTGTGACTGTGACAGACTCACTGGGGTTTGTACATGCTGGGGAGGAGCCTTCCTTTCAGGGGTGACCACATTCATCTGGGCATGCCTGCAGTACTCTTGGCCCATGGACCTGAAGGAGAAGCACCTG(___GGCGAGCCTCCCTCAGCCCTGGGCCTGTCCACGCGGAAGGCCCTCAGCGTCCTGAAGGAGCAGCTGGAGGCAGTGCTGGAAGGACATCTCAGGGAGCGGAAGAAGTGTCTGACGTGGAAG___GAGGTGTGGAGAAGCAGCTTCCTCCACCACAGTAACCGCTGCTCCTGCTTCCACTGGCCGGGGGCCTCACTCATGCTACTGGCCGTGCTGCTGCTGCTGGGCTGCTGCGGGGGACAGCCAGCCGGGAG___CCGTGGGGTGGGGCTGGTGAATGCCTCGGCCTTGTTCCTGTTACTGCTTCTCAACCTTGTGCTCATCGGGCGGCAAGACCGGCTGAAGCGTCGGGAGGTAGAGCGGAGGCTGCGAGGGATCATTGACCAAATCCAAG___ATGCCCTCAGGGATGGCAGGGAGATCCAGTGGCCCAGTGCCATGTATCCAGACCTCCACATGCCTTTTGCGCCATCCTGGTCCTTGCACTGGGCCTACAGAGACGGACACCTGGTCAACCTGCCAGTCAGCCTGCTGGTTGAAGGAGACATCATAGCTTTGAGGCCTGGCCAGGAATCGTTTGCTTCTCTGAGGGGGATCAAG___GATGACGAGCACATCGTCCTGGAGCCGGGAGACCTCTTCCCCCCCTTCTCCCCTCCACCCTCACCCCGGGGAGAAGTGGAGAGAGGGCCACAGAGCCCCCAGCAGCACCGGCTTTTCCGTGTCCTTGAGACCCCTGTGATTGACAACATCAG___ATGGTGCCTGGACATGGCCCTGTCCCGACCAGTCACTGCCCTGGACAATGAGCGGTTCACAGTGCAGTCGGTGATGCTACACTATGCTGTGCCCGTGGTCCTG___GCCGGCTTCCTCATCACCAATGCCCTGCGCTTCATCTTCAGTGCCCCGGGGGTCACTTCCTGGCAGTACACCCTCCTCCAGCTCCAG___GTGAATGGCGTCCTGCCCATCCTCCCCCTGCTCTTTCCAGTCCTCTGGGTTCTGGCAACTGCCTGTGGAGAGGCCCGTGTCCTGGCCCAGATGAGCAAGGCCTCACCCAGCTCCCTG___CTGGCTAAGTTCTCAGAGGATACTCTCAGCAGCTATACGGAGGCTGTCTCCTCTCAG___GAAATGCTGCGCTGCATTTGGGGCCACTTCCTGAGGGTGCTCGGGGGGACATCGCCAACGCTGAGCCACAGTTCCAGCCTGCTGCACAGCCTGGGCTCTGTCACG___GTCCTGTGCTGTGTGGACAAACAGGGGATCCTGTCATGGCCAAATCCCAGCCCAGAGACTGTACTGTTCTTCAGCGGGAAGGTGGAGCCCCCTCACAGCAGCCATGAGGACCTCACCGATGGCCTATCCACCCGCTCCTTCTGCCATCCCGAG___CCCCATGAACGAGACGCCCTCCTGGCTGGCTCCCTGAACAACACCCTGCACCTTTCCAATGAGCAGGAGCGTGGCGACTGGCCTGGCGAGGCTCCCAAGCCCCCCGAGCCCTATTCACACCACAAAGCGCATGGCCGCAGCAAACACCCATCTGGCTCCAACGTGAGCTTCAGCAGGGACACCGAGGGTGGTGAAGAAGAGCCCAGCAAG___ACCCAGCCTGGGATGGAGAGCGACCCCTACGAAGCAGAGGACTTTGTGTGTGACTACCACCTGGAGATGCTGAGCCTGTCCCAGGACCAGCAGAACCCCTCCTGCATCCAGTTTGATGACTCCAACTGGCAGCTGCACCTCACCTCCCTCAAACCCCTGGGCCTCAATGTGCTGCTGAACCTGTGTGATGCCAGCGTCACCGAGCGCCTGTGCCGATTCTCCGACCACCTGTGCAACATCGCCCTGCAAGAGAGCCACAGCGCCGTGCTGCCCGTCCATGTGCCCTGGGGCCTCTGCGAGCTTGCCCGCCTCATTG___GCTTCACTCCTGGGGCCAAGGAGCTTTTCAAGCAGGAGAACCATCTGGCGCTGTACCGCCTCCCCAGTGCCGAGACAATGAAGGAGACATCGCTGGGGCGGCTCTCCTGTGTCACCAAGCGGCGGCCTCCCCTCAGCCACATGATCAGCCTCTTCATTAAAGACACCACCACCA___GCACAGAGCAGATGCTGTCCCATGGCACCGCTGATGTGGTCTTAGAGGCCTGCACAGACTTCTGGGACGGAGCTGACATCTACCCTCTCTCGGGATCTGACAG___AAAGAAAGTGCTGGACTTCTACCAGCGAGCCTGCCTGTCTGGGTATTGCTCTGCCTTCGCCTACAAGCCCATGAACTGCGCCCTGTCCTCTCAGCTCAATGGCAAGTGCATCGAGCTGGTACAGGTGCCCGGCCAAAGCAGCATCTTCACCATGTGCGAGCTGCCCAGCACCATCCCCATCAAGCAGAACGCCCGCCGCAGCAGCTGGAGCTCTGACG___AAGGGATCGGGGAGGTGCTGGAGAAGGAAGACTGCATGCAGGCCCTGAGCGGCCAGATCTTCATGGGCATGGTGTCCTCCCAGTACCAGGCCCGGCTGGACATCGTGCGCCTCATTGATGGGCTTGTCAACGCCTGCATCCGCTTTGTCTACTTCTCTTTGGAGGATGAGCTCAAAAGCAAG___GTGTTTGCAGAAAAAATGGGCCTGGAGACAGGCTGGAACTGCCACATCTCCCTCACACCCAATGGTGACATGCCTGGCTCCGAGATCCCCCCCTCCAGCCCCAGCCACGCAGGCTCCCTGCATGATGACCTGAATCAGG___TGTCCCGAGATGATGCAGAAGGGCTCCTCCTCATGGAGGAGGAGGGCCACTCGGACCTCATCAGCTTCCAGCCTACGGACAGCGACATCCCCAGCTTCCTGGAGGACTCCAACCGG___GCCAAGCTGCCCCGGGGTATCCACCAAGTGCGGCCCCACCTGCAGAACATTGACAACGTGCCCCTGCTAGTGCCCCTTTTCACCGACTGCACCCCAGAGA___CCATGTGTGAGATGATAAAGATCATGCAAGAGTACGGGGAGGTGACCTGCTGCCTGGGCAGCTCTGCCAACCTGCGGAACAGCTGCCTCTTCCTCCAGAGCGACATCAG___CATTGCCCTGGATCCCCTGTACCCATCCCGTTGCTCCTGGGAGACCTTTGGCTACGCCACCAGCATCAGCATGGCCCAGGCCTCGGATGGCCTTTCTCCCCTGCAGCTGTCAGGGCAGCTCAACAGCCTGCCCTGTTCCCTGACCTTTCGCCAGGAGGAGACCATCAGCATCATCCGGCTTATCGAACAG___GCTCGGCATGCCACCTATGGCATCCGTAAGTGCTTCCTCTTCCTGCTGCAGTGCCAGCTGACTCTTGTGGTCATCCAG___TTCCTTTCTTGCCTGGTCCAGCTGCCGCCACTCCTGAGTACCACCGACATCCTGTGGCTGTCCTGCTTTTGCTACCCTCTGCTCAG___CATCTCTCTGCTGGGGAAGCCCCCCCATAGCTCCATCATGTCTATGGCAACGGGGAAAAACCTCCAGTCCATTCCCAAGAAG___ACCCAGCACTACTTCCTGCTCTGCTTCCTGCTCAAGTTCAGCCTCACCATCAGCTCCTGCCTCATCTGCTTTGGCTTCACACTGCAGAGCTTCTGTGACAGCTCCCGGGACCGCAACCTCACCAACTGCTCCTCCGTCATGCTGCCCAG___CAACGACGACAGGGCTCCAGCCTGGTTTGAGGACTTTGCCAATGGACTGCTGTCGGCTCAGAAGCTCACGGCCGCCCTGATTGTCCTGCACACTG___TCTTCATTTCCATCACCCATGTGCATCGCACCAAGCCCCTGTGGAGAAAGAGCCCCTTGACCAACCTCTGGTGGGCCGTGACAGTGCCTGTGGT___GCTGCTGGGTCAGGTGGTCCAGACGGCTGTGGACCTGCAGCTGTGGACACACAGGGACAGCCACGTCCACTTTGGCCTGGAGGACGTGCCCCTGCTGACATGGCTCCTGGGCTGCCTGTCCCTGGTCCTTGTGGTGGTGACCAATGAGATCGTGAAGCTACATGAGATTCG___GGTCCGAGTCCGCTACCAGAAGCGACAGAAGCTGCAGTTTGAAACTAAGCTGGGCATGAACTCTCCCTTCTGAGCCACTGGCTGTGGTGGCTGTAGTTGCCCCCGTCCCTGGGGCTAAAGCCAGACCCATTTCTGAACAGGGGAGTTTGTATCATGAATGTTTCCAGGTTTGCTCCTGCACCCGTGGCACTGGAAACCCAGCTCCCCGTGTCAGACCCCGCTGTCTTCCTGAGCCCTGGGGCTCACTGTGGAGGAGCTGACGGCCTGGGCCCTTGGCCAGTCCTGGCTCTTCCCTGGGCCTCACCAGGGACACTCTTGAATGTATGGCCTCAGGCGCTCCCTAGAGGGGCCCTAAACCCCCTCACCTGTGAGCTACCCCCTTTAGGGATCCCTTGCCCCCTTGGAGATCCCTTGCCCCCCAGTGCCTCTGCTCGTGGGTCCCTGGACACGGCCTTGAAGCCAACCTTCTTTGGAGGAGCAACAGCAGCAGCCTTGGCCGACGCGTCCAACTCCCAAGGCTGCCGTGGAGGGCAGGGGGGTGGTGCTTGCCTGGATGTGGCCCCGAGTGCCTCCCCTCCCTCCCTCTGTGGGGGAGTCTCCCGCCTGAACCTGAAGATGGAGCAGGGCCCCCGCTTCGCCCTGGAGCCTCTTCCTGTGCCTGGCTCAAGCTGGCTGCCTGTCAGTCTTGGGGAATCTGGCCCAGGTCTCCTCAGCCTCTGCCCCAGTTCTGGGAGAAGTTTCTACTGGTGTATATTTTTTACTGGAAATGAGCCTTTTAGGAATGAATGTAGACTGGTTTGTATTAAAATGTGTCAATTGCTAAGAAATACCTGTGGCTGGTCTGTAAGGCCACTCCAGGGTCTGCCCACCCCCGGCGGTGGCTGGCAAAGGGAGGCCTAAACCTTCCTCCATCTACGCGGGTGGGTCCCTCAGGTCTGGCTCAGGCGAGACCCCTAGGGTCAGGGGTCCCCATGTCACAGAGGCAAACACACAGCCCAGTCACGTGGAATGGTGTTTTCATTGGTGTTAGTTGGGGGAAGAGGTTAATGGTTACAGAGCCAGGGCCTGGGCCAATGGGGTCAGGCTCTCCCTGCCCTCAGGTGGGCAGTCGGGGCTCCTGCTGTGGTCCGAAGCCCCTCCCCCATTGTGTCCTCTCAGGCAGTTGATAGAATAAATTCCATTTAAAATATA)$ . 11BR056 ENSG00000197961.11 ENSG00000223217.1(3264),ENSG00000202332.1(19538) -/- ./+ chr19:9584461 chr17:75412452 5'UTR/splice-site intergenic translocation 0 6 0 8 27 medium . . . . . ENSG00000197961.11 . ENST00000320451.6 . upstream upstream duplicates(1) ^(ATCTTTTCCGGCGCT)GGCTCCGCATGGTCAGTGCCATTTCGCCTTTATCGTGGTGGAGTCCACCCTGGCTGTG|ACACAGACTCAGAAACTTGAGACAACGTTGCCCAAGATCATTCCACACTGAGAAAAAAACACATTAGAGGCAGCAGTGTTTTGAATAGGTGCATGGCTAGTGTTAAATAATGGAAAGAAATTGGAACAAGAGGCAAGTTGTGAAGTAAAAGTCACACCCTGGTATGAAAACCTGTTGTCACTGTAGCGAAACTTGCTAATTACAGACCGGCTCCATCAGTAGCTTCACAATGCACAAAATCACCAAAAAAGTCTCTGTTTTCCTTGGG . 11BR056 ENSG00000106086.20 ENSG00000286526.1(8606),ENSG00000235464.1(107740) +/+ ./- chr7:30062742 chr7:35388281 CDS/splice-site intergenic inversion 0 3 0 26 11 medium out-of-frame . Glycolipid_transfer_protein_(GLTP)(100%),PH_domain(100%)| . . ENSG00000106086.20 . ENST00000396259.5 . downstream downstream . ^(AGCTCGTTCGCCGCACTTTGGAGGCTTCGGCTGCCCCTCCGACCCACGTAGGGCCCGGACCCGGGCCTCCTTGTGAACAGCGTGCCGGCTTCGCCCCACGGGTTCACCGGCTGGCTGGGCTTCAAGCGCCGAGGCCGCCGCAGTGACCCCGCCCCCGGGCCGAGGATGTGAGGCGGGCCGGGCGTCCCCACACCGGGCCCGGGCGCCGGGAGTGGGCGTCTGGGCAGCGCCAGGCGATGGCCCTGCTGCTGGTGCTCCTCGCCTCTTGGGGCCTGGGGCAGTGAGGGGGCCGGCGGGCGTGGGCCGAGTGGCCGCGGGCGCCATGGAGGGGGTGCTGTACAAGTGGACCAACTATCTGAGCG___GTTGGCAGCCTCGATGGTTCCTTCTCTGTGGGGGAATATTGTCCTATTATGATTCTCCTGAAGATGCCTGGAAAGGTTGCAAAGGGAGCATACAAATGGCAGTCTGTGAAATTCAAG___TTCATTCTGTAGATAATACACGCATGGACCTGATAATCCCTGGGGAACAGTATTTCTACCTGAAGGCCAGAAGTGTGGCTGAAAGACAGCGGTGGCTGGTGGCCCTGGGATCAGCCAAGGCTTGCCTGACTGACAGTAGGACCCAGAAGGAGAAAG___AGTTTGCTGAAAACACTGAAAACTTGAAAACCAAAATGTCAGAACTAAGACTCTACTGTGACCTCCTTGTTCAGCAAGTAGATAAAACAAAAGAAGTGACCACAACTGGTGTGTCCAATTCTGAG___GAGGGAATTGATGTGGGAACTTTGCTGAAATCAACCTGTAATACTTTTCTGAAGACCTTGGAAGAATGCATGCAGATCGCAAATGCAGCCTTCACCTCTGAGCTGCTCTACCGCACTCCACCAGGATCACCTCAGCTGGCCATGCTCAAGTCCAGCAAG___ATGAAACATCCTATTATACCAATTCATAATTCATTGGAAAG___GCAAATGGAGTTGAGCACTTGTGAAAATGGATCTTTAAATATGGAAATAAATGGTGAGGAAGAAATCCTAATGAAAAATAAGAATTCCTTATATTTGAAATCTGCAGAGATAGACTGCAGCATATCAAGTGAGGAAAATACAGATGATAATATAACAG___TCCAAGGTGAAATAAGGAAGGAAGATGGAATGGAAAACCTGAAAAATCATGACAATAACTTGACTCAGTCTGGATCAGACTCAAGTTGCTCTCCGGAATGCCTCTGGGAGGAAGGCAAAGAAGTTATCCCAACTTTCTTTAGTACCATGAACACAAG___CTTTAGTGACATTGAACTTCTGGAAGACAGTGGCATTCCCACAGAAGCATTCTTGGCATCATGTTATGCTGTGGTTCCAGTATTAG___ACAAACTTGGCCCTACAGTGTTTGCTCCTGTTAAGATGGATCTTGTTGGAAATATTAAG___AAAGTAAATCAGAAGTATATAACCAACAAAGAAGAGTTTACCACTCTCCAGAAGATAGTGCTGCACGAAGTGGAGGCGGATGTAGCCCAGGTTAGGAACTCAGCGACTGAAGCCCTCTTGTGGCTGAAGAG___AGGTCTCAAATTTTTGAAG)GGATTTTTGACAGAAGTGAAAAATGGGGAGAAGGATATCCAGACAGCCCTAA|GACATTATATCATGTCCTGTCATGATATCGTGTGTCTTCAAGGACATGATGTCACACTTCAGAATCAATTTTTCTTAATGGACATTTCAACAGCTCTTCCGTAAGCCTGGGATATCTTCTGATGGGCAGCGCACAGCAGAGGAATTGGAAGGGATCTGCACCTCATGGG MEGVLYKWTNYLSGWQPRWFLLCGGILSYYDSPEDAWKGCKGSIQMAVCEIQVHSVDNTRMDLIIPGEQYFYLKARSVAERQRWLVALGSAKACLTDSRTQKEKEFAENTENLKTKMSELRLYCDLLVQQVDKTKEVTTTGVSNSEEGIDVGTLLKSTCNTFLKTLEECMQIANAAFTSELLYRTPPGSPQLAMLKSSKMKHPIIPIHNSLERQMELSTCENGSLNMEINGEEEILMKNKNSLYLKSAEIDCSISSEENTDDNITVQGEIRKEDGMENLKNHDNNLTQSGSDSSCSPECLWEEGKEVIPTFFSTMNTSFSDIELLEDSGIPTEAFLASCYAVVPVLDKLGPTVFAPVKMDLVGNIKKVNQKYITNKEEFTTLQKIVLHEVEADVAQVRNSATEALLWLKRGLKFLKGFLTEVKNGEKDIQTAL|rhyimschdivclqghdvtlqnqfflmdistalp* 11BR056 ENSG00000004766.17 ENSG00000260746.2(50748),ENSG00000260522.1(26340) +/+ ./+ chr7:93253931 chr16:35695928 CDS/splice-site intergenic translocation 3 0 0 48 5 medium out-of-frame . Vacuolar-sorting_protein_54__of_GARP_complex_(100%)| . . ENSG00000004766.17 . ENST00000544910.5 . downstream upstream . ^(AGGATACCCTGGGTCGGCTCCTCCACGTGACCACCCACTATGGCTTCCTAGTGTCAGGGCCAGCTGTGTAGTGGCTCGGTGTGATTTGTTAGCTCTTTGAGGCAGGGTACCCTCCTCAGGATTTCGATATGCAAAAAATCAAATCTCTCATGACCCGACAG___GGTCTGAAAAGCCCTCAAGAAAGCCTCAGTGATCTTGGTGCCATAGAGAGTCTCCGGGTCCCTGGAAAG___TTAGAGCCCTAACGTGATGTTAACTTTG___GAAGAATTCAGGGAACTT)CGAGAACAGCCAAGTGACCCTCAAGCTGAACAAGAGCTTATTAATAGTATTGAACAAGTATATTTTTCTGTGGATTCATTTGATATTGTTAAATATGAGCTGGAG___AAGCTTCCACCTGTTCTCAATTTGCAAGAATTAGAGGCGTATAGAGACAAATTGAAACAACAGCAAGCTGCA|GTGGGAAACACAATTTTTAAAGCATgTGCGAAGGGATATTTCTGACCTGATTGAGGCCTGTTGTGAAG MLTLEEFRELREQPSDPQAEQELINSIEQVYFSVDSFDIVKYELEKLPPVLNLQELEAYRDKLKQQQAA|vgntifkacakgyf* 11BR056 ENSG00000143224.18 ENSG00000143224.18 +/+ +/+ chr1:161170038 chr1:161167835 intron intron duplication 2 1 0 45 11 medium stop-codon . Flavin_containing_amine_oxidoreductase(100%)|Flavin_containing_amine_oxidoreductase(100%) . . ENSG00000143224.18 ENSG00000143224.18 ENST00000352210.9 . downstream upstream . ^(GCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGG___GTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAG___GTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTG___GTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAG___GGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAG___GTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAG___GGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAG___GTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAG___)TGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGA|TTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCcCC . 11BR056 ENSG00000126562.17 ENSG00000121060.18 +/+ -/+ chr17:42781316 chr17:56895781 CDS/splice-site intron deletion/5'-5' 2 0 0 30 29 medium out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000126562.17 ENSG00000121060.18 ENST00000246914.10 . downstream upstream . ^(GGAGCGCAGCGCACCCAGCGAGTCCGTCTGTCAGGCCGCCTCCTCTCCGGCCGTCTGATTTTCTACCCTTCGGCGCCCTGCTCTTCCTCATGTTGGCATCCCCGGCCACGGAGACCACCGTCCTCATGTCCCAGACTGAGGCCGACCTGGCCCTGCGGCCCCCGCCTCCTCTTGGCACCGCGGGGCAGCCCCGCCTCGGGCCCCCTCCTCGCCGAGCGCGCCGCTTCTCCGGGAAGGCTGAGCCCCGGCCGCGCTCTTCTCGTCTCAGCCGCCGTAGCTCAGTCGACTTGGGGCTGCTGAGCTCTTGGTCCCTGCCAGCCTCACCCGCTCCGGACCCCCCCGATCCTCCGGACTCCGCTGGTCCTGGCCCCGCGAGGAGCCCACCGCCTAGCTCCAAAGAACCCCCCGAGGGCACGTGGACCGAGGGAGCCCCTGTGAAGGCTGCGGAAGACTCCGCGCGTCCCGAGCTCCCGGACTCTGCAGTGGGCCCGGGGTCCA)GGGAGCCGCTAAGGGTCCCTGAAGCTGTGGCCCTAGAGCGGCGGCGGGAGCAGGAAGAAAAGGAGGACATGGAGACCCAGGCTGTGGCAACGTCCCCCGATGGCCGATACCTCAAGTTTGACATCGAGATTGGACGTGGCTCCTTCAAGACGGTGTATCGAGGGCTAGACACCGACACCACAGTGGAGGTGGCCTGGTGTGAGCTGCAG|CCTCAGGCCTGCTGCCATTACAGAATGGAATCATATAGAACCCATCAC MLASPATETTVLMSQTEADLALRPPPPLGTAGQPRLGPPPRRARRFSGKAEPRPRSSRLSRRSSVDLGLLSSWSLPASPAPDPPDPPDSAGPGPARSPPPSSKEPPEGTWTEGAPVKAAEDSARPELPDSAVGPGSREPLRVPEAVALERRREQEEKEDMETQAVATSPDGRYLKFDIEIGRGSFKTVYRGLDTDTTVEVAWCELQ|pqacchyrmesyrth 11BR058 ENSG00000171862.11 ENSG00000227905.1(8171),ENSG00000275015.1(201135) +/+ ./+ chr10:87894109 chr10:88057994 CDS/splice-site intergenic deletion/read-through 63 18 0 200 161 high out-of-frame . . . . ENSG00000171862.11 . ENST00000371953.8 . downstream upstream duplicates(7),low_entropy(1),mismatches(1) ^(GTTCTCTCCTCTCGGAAGCTGCAGCCATGATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCCTCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTCTTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCGCGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGGTCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGGCTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGGAGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTCGCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGCCAAGTCCAGAGC)CATTTCCATCCTGCAGAAGAAGCCCCGCCACCAGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCTCCCAGACATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCT___ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAG|ATGCCgTTTGGAGTAGCTACTTTGAGGACAAGAGACAAAAAGCCTGAGGAGAAAGTCACCATGAAGGAAACAGAAAGAcTAAACAGCATGCGTGATCTTTGATTCAGAGTCCCCATCTCACCCTGGAC MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVr|crle* 11BR058 ENSG00000171862.11 ENSG00000200891.1(21548),ENSG00000227905.1(31892) +/+ ./+ chr10:87894109 chr10:88016243 CDS/splice-site intergenic deletion/read-through 17 18 0 200 60 high out-of-frame . . . . ENSG00000171862.11 . ENST00000371953.8 . downstream upstream duplicates(1),low_entropy(1) ^(GTTCTCTCCTCTCGGAAGCTGCAGCCATGATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCCTCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTCTTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCGCGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGGTCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGGCTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGGAGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTCGCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGCCAAGTCCAGAGCCATTTCCATCCTGCAGAAGAAGCCCCGCCACC)AGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCTCCCAGACATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCT___ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAG|TGGGCAGATGTATGCAAACCTATCCTAAAGTTCAAGGAAGCTGAGAGGCCGAAGAAAGAGGCTGACAAATCTAGTTTCTCAGAAAGAAACCTTTAACAGGGATTTAGGAACAGAAGCCATGTCTGGGTCTCAGACAGGGCAGGATGAGATG___ATGCCgTTTGGAGTAGCTACTTTGAGGACAAGAGACAAAAAGCCTGAGGAGAAAGTC MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVs|gqmyanls* 11BR058 ENSG00000260678.1(8061),ENSG00000261680.1(545) ENSG00000156853.13 ./- -/- chr16:30623740 chr16:30609638 intergenic CDS/splice-site deletion/read-through 18 14 2 257 354 high . . |KRAB_box(100%),Zinc_finger__C2H2_type(100%) . . . ENSG00000156853.13 . ENST00000287461.8 upstream downstream duplicates(2),low_entropy(1),mismatches(2) CCCCTGACCCCTTCCTTAAAACAGATCCTTTTGTCTTTGTCTTCATTTCTGCGTTTGTCCTCCTTCATTCAGTCCCAAACCAACAGCCACAAGTGGTGCCTAATCAGGGACGTGAAGGAAGAAGATCTGCTGGAGCAGAGAAACTGAAACTGACCAGATGAGTGAGAAACCCCAGGACAAATCTGCTGGCAGAGGATATAAG|GGTGCGCAGGTCCCAAACCAGCCCTCATCTCCTGGTTGGAACGAAACACCGATGACTGGGAACCGGCTGCTCTAGATCCGCAGGAGTACCCGAGAGGGCTAACAGTCCAGAGAA___AAAGCAGAACCAGAAAGAAGAATGGGGAGAAGGAAGTATTCCCGCCTAAGGAGGCACCCCGAAAGGGGAAGCGAGGCCGGAGGCCCAGCAAACCCCGACTGATTCCTAGGCAGACGTCCG(GGGGCCCCATCTGCCCTGACTGCGGCTGTACCTTCCCTGATCATCAGGCCCTGGAGAGCCACAAGTGCGCCCAGAATCTAAAAAAGCCTTACCCTTGCCCAGACTGTGGGCGCCGCTTTTCCTATCCATCCCTGCTGGTCAGTCACCGGCGGGCACACTCCGGCGAGTGCCCCTATGTTTGTGACCAGTGTGGCAAACGTTTCTCCCAGCGCAAGAACCTCTCCCAGCACCAGGTCATCCATACAGGGGAGAAGCCCTATCACTGCCCTGACTGTGGTCGCTGCTTCCGGAGGAGCCGGTCCTTGGCCAATCACCGGACCACACACACAGGTGAAAAACCCCACCAGTGCCCTAGCTGTGGACGTCGCTTCGCCTACCCCTCCCTGCTAGCCATCCACCAGCGTACACACACGGGAGAGAAGCCCTACACTTGCCTCGAGTGCAACCGCCGCTTCCGCCAGCGCACGGCCCTCGTCATCCACCAGCGCATCCACACGGGCGAGAAGCCCTACCCGTGCCCGGACTGCGAGCGGCGCTTCTCCTCCTCCTCTCGCCTGGTCAGTCACCGGCGTGTGCACTCTGGGGAGCGTCCCTATGCCTGCGAGCACTGTGAGGCCCGCTTCTCCCAGCGCAGCACGCTGCTCCAGCACCAGCTCTTGCACACCGGAGAGAAGCCCTACCCCTGCCCAGACTGTGGGCGTGCCTTCCGGCGGAGCGGCTCCCTGGCCATCCATCGCAGCACGCACACAGAGGAGAAGCTGCACGCCTGCGACGACTGTGGTCGCCGCTTTGCCTACCCCTCACTGCTGGCCAGCCACCGGCGCGTGCACTCGGGCGAGCGGCCCTATGCCTGCGACCTTTGCTCCAAGCGTTTTGCTCAGTGGAGCCACCTGGCCCAGCACCAGCTGCTGCACACGGGGGAGAAGCCTTTCCCCTGCCTCGAGTGTGGCCGGTGCTTCCGCCAGAGGTGGTCTCTGGCTGTCCACAAGTGTAGCCCCAAGGCCCCAAACTGTAGCCCTAGATCTGCTATCGGGGGCTCCAGTCAGAGGGGCAACGCCCATTAGAAGGGGAAGGACTGCCTACGTTCATTTCATTTTATGGAGGGTCCCAGAAAAGGGAAGGAGGAGCCCCAGGTCATACAGGGCAGAGTCAGAACTAAACCCGGGTCTCCTGCTGCACAGAGCTGAACTTTGTATCTTGCAATGCGCTGGCTGCCTCCCTGTGCGTGTCTGGAACAGTCCCATTAGGAGAGGTGACGTCATTTGCTTAAAGTTTTCCAAGCTACCCTATCCTAAAATAGTTTGTGTGGATATCAGGGCTAAAAGTTCTCCCCATCTATTTTAGGGGCTGTCTGCTTTTCTAGTCTGTCCACACAGGGATTACCTGTCATCTTGCATGCAATCAGGAGAATCTCATAGGGGCAGGACCTTCCCCTACTCTGCCTCTTCCTCCATACTAGGTTGGAAAAATCTGGTTTAGCCCACTTTTTGCAACACTCCTGCCAAGTGGTCTTCTACCCATTGCTTGAAAATCTCTCTTGACAGGGAGCTCACTACCTCACAAGGCAGGTCATTTCATTGTGGGATCTATAGAAGGTTAAGTACCACATTCTCCTCTAAACCTTGCCTACGACATGTTTAATACTTCATCTACATAGCAGCCCTTCAGATAATCACAACCACTTTGCCCCCAAGTTTTCAGGTTAAGTAGCATGAATTTGGTCATTCCTTAAAGACAGGGTTTCAATTTCCACACATGATCTCTGCAAACAGGCACTGGGTTTTCAGTGTCCTTTTTGAAGGGTCATATAAAAATAAGGTAACACCACAGTGCCACTACACCTTCTGGGGCTGGACTTGTTTCAGCAGCTTTGGTTGCACTGAATTTGGGGGAGCTGCATGGTACCAGGGGTTTATTGGGTTGCAGATATATAAATGCCCTAAACTTAAAAAAAAAAAAAAAAGCTATAAAACTAAGTCTTCATCTTGTATTTGGAAAATTGGTTCAAGCTGGGTATGAGACATAAGTGTAGTCAGCTCTGGGAGAAGGTTGCTCTTAAGGAGAAGCAGGGACCTGTGGTTTAGCAGCAGGAAGTGCAAATGGGACTGGCTTGTGCTCTACCTGGCAGACCTGGATTGGCTTCAGGCAGCCAGTGCCTGGAAAAGCCTGGAGAATTGGGCCGTACTTGACCCTGATTCTCATCAGGCACAGATGAATCACAGGCACCTAAGAATCGGCACAGAACTTCCATGAGGCCTCAGTCAGCATTTTTTCACAAAATGAGCTGAGGCCATTCAAGGAGGCTAGAAAGAGGGAACTGAATCCAGAGAGGAAGAGTCTATAGTCATCAAGTTGTATCCATGCCAGCCTCCCTCCACAGAGGTGGCAGCAGCGTGGCTCAATCTGATCCACCTCCATGGCACCCACTGGGTAGGTGCTTCATAAAGCTTTACCGAGTTAAATGTGAACAAGGCCTACCACTTTGCCTTGGGCAGCTGCACCAAATTAGAATTTCCAGATGTGACTCATCTCATATTCCAACAGCTGGAGTGGGTCATCCTTTACCCCTGTGGCTCCTTCCTACAGCTCTCCTGATCTCAGCACAAGCAGGGGAGCAGCTGGGGGAACACAGCTTTATGTAATTACCTCTGTTCAATATTTAGCAAGTTGCATTGTAACATTGTAACTGTTTGTTTCTCCTTGGATGATGAGCTACCCCCAAGAAGGGGTCATATCAGATTGGGTCTCATTAAAATGTCTGATGAATGAA)$ . 11BR058 ENSG00000136770.11 ENSG00000107863.18(70724),ENSG00000285750.1(21720) -/- ./- chr10:21919832 chr10:24794611 CDS/splice-site intergenic duplication 15 17 0 87 53 high out-of-frame . DnaJ_domain(100%)| . . ENSG00000136770.11 . ENST00000376980.8 . upstream downstream duplicates(1),mismatches(1) ^(ACTGTGCAGCCCAGGCGCCGGGCGCTGCCTCTACAGCTGTGTGTAGGCCTGGGGGCGAGGGTCTTCGGAACGTAGCGCTGGCTGCGGCCCCGCCCGCCTACCCACCCGCCCGTCCGGCAGCCGGCTCCCGCCGCCTCCGCGCTCTGTCTGGGGCCAGCCACCTGGCGGGCCGCTCCGGTGCGCCTGCCCGCGCTTTTCACTGACAGGCGCTGTTCCCCACAGCCAGCGCCGCCCGCCACGTCCCAGCTCTCGGCCAACGGAGCTGCGCGGCGGGTGACCTTTCCGAGCCCAGCGCGATGACGGCTCCTTGCTCCCAGCCGGCGCAGCTTCCTGGACGCCGCCAGCTCGGGCTGGTGCCGTTCCCGCCGCCGCCGCCGCGGACGCCGCTGCTGTGGCTGCTGCTGCTGCTGCTGGCCGCCGTGGCGCCGGCGCGCGGCTGGGAGAGCGGAGACCTGGAGTTGTTTGACTTAGTGGAGGAGGTGCAGCTCAACTTCTACCAGTTCCTCGGGGTGCAGCAG___GATGCATCATCTGCAGACATCAGAAAAGCATATCGTAAGCTTTCACTAACTTTACATCCAGACAAGAATAAAGATGAAAATGCAGAAACTCAGTTTAGACAA___TTGGTGGCCATTTATGAAGTTTTAAAGGATGATGAACGAAGGCAGAG___GTATGATGATATTCTGATCAATGGACTTCCAGATTGG)CGACAGCCTGTATTCTACTACAGGCGGGTGAGAAAAATGAGCAATGCTGAGCTGGCATTACTCTTGTTCATTATTtTCACAGTGGGTCATTATGCTGTGGTTTGGTCAATCTACCTGGAAAAACAACTG___GATGAACTACTAAGTAGAAAAAAGAGAGAAAAGAAAAAAAAGACTGGCAGCAAGAGTGTGGATGTATCAAAACTCGGTGCTTCAGAAAAAAATGAAAG|CAAGACTCGTCTCAGAAAAAAAGGAGAGAAGAAGAAGAAACCAACCCTGCTGACACATTGATCTTGGATTTCTAGTCTCCAGAATTGTAAGACAATCAATTTCTGTTGTTTAAGCTCCCCAGCATGTG...___GCTGGAGTGCAATGGCACGATCTCACTGCAATCTCCTCCTCTCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCATCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGG MTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVEEVQLNFYQFLGVQQDASSADIRKAYRKLSLTLHPDKNKDENAETQFRQLVAIYEVLKDDERRQRYDDILINGLPDWRQPVFYYRRVRKMSNAELALLLFIIfTVGHYAVVWSIYLEKQLDELLSRKKREKKKKTGSKSVDVSKLGASEKNEs|ktrlrkkgekkkkptllth* 11BR058 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 18 6 0 27 24 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(2),mismappers(1),mismatches(1) CGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR058 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 14 10 0 89 59 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCT)GTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR058 ENSG00000109452.12 ENSG00000198589.14 -/- -/+ chr4:142193087 chr4:150637576 CDS/splice-site intron inversion/5'-5' 3 17 0 63 31 high out-of-frame . . . . ENSG00000109452.12 ENSG00000198589.14 ENST00000513000.5 . upstream upstream . ^(CACACGCTCGCAAGCGAACGCAGGAAAGTCAGGCTAAAAGTGTCTGCTGCTGCTGCCGCCCCCCACTCCGCCTCCGGGAGAG___AATACAAAGAAATGGTGTTACCTGGCAAGAGGTCTTCTGTCTTTTATGAAAAATTAGACAAAG___GCTTTACAGGAGGCATAGTACTGGAAATCTGCTCCTGATGAGGTCTCAGAAAGCTTCCACTCGTGGTGGAAGGCAAAGGAGGAGCAGGCACATCACATG___AGCCTTGAAACCAGCGAAACAATAATCAAAGAGCAGTTCTGTCAAAGAAAACAACATAAATCAG___GTACAGAATTTCAGAGTGGGATATCAGATCTTTAGTGTGAAGATACATCTACATTAAACCAGGAATCACTAGAACTGACATTTGGACAAGAAAATTTGGAAAATTTTAAAACTGTGAAGGTTGATCATGGAAATTAAAGAGGAAGGGGCATCAGAAGAAGGGCAGCACTTTCTTCCTACAGCCCAGGCCAATGATCCCGGGGACTGTCAGTTCACAA___GTATCCAGAAGACTCCAAATGAACCGCAGTTGGAATTCATCCTTG___CATGCAAGGATCTCGTGGCTCCTGTCCGTGATCGTAAACTGAATACACTGGTGCAGATCTCCGTAATCCACCCCGTGGAGCAGAGTCTGACAAGATACTCCAGCACCGAAATTGTGGAG___GGAACAAGGGACCCACTGTTTTTGACTGGTGTCACATTCCCATCTGAGTATCCCATCTATGAGGAGACCAAAATAAAACTAACAGTCTATGATGTCAAGGATAAGTCTCATGACACC___GTTCGAACCAGTGTCCTACCAGAACATAAGGATCCCCCGCCAGAAGTTGGG___CGAAGTTTCTTGGGCTATGCCAGTTTTAAAGTGGGAGAGCTGCTGAAGTCAAAGGAGCAATTGCTGGTCCTGAGCCTGAG___AACTTCAGATGGTGGCAAAGTGGTTGGCACCATAGAAGTCAGTGTCGTGAAGATGGGGGAGATTGAGGATGGGGAAGCCGACCACATCACCACAGATGTACAGGGACAAAAG___TGTGCCCTGGTATGTGAATGTACAGCCCCGGAAAGTGTGAGCGGAAAAGATAACTTACCTTTTTTGAATTCAG___TGTTAAAGAACCCAGTATGTAAATTATATAGATTTCCCACATCTGACAATAAGTGGATGCGAATTCGAGAGCAGATGTCAGAGAGCATTCTTTCCTTTCATATTCCTAAGGAATTGATTTCCCTTCACATTAAAGAAGATTTGTGCAG___AAACCAGGAGATAAAAGAACTTGGTGAGCTTTCTCCACATTGGGACAATCTGCGAAAAAATGTCCTTACTCACTGTGATCAAATGGTGAATATGTACCAAGACATTCTGACAGAACTTAGCAAGGAAACAG___GGTCCTCTTTCAAATCAAGCAGCAGCAAAGGAGAGAAAACATTAGAATTTGTTCCAATAAATCTACATCTGCAAAGAATGCAGGTACACAGCCCTCACTTGAAAG___)ATGCTCTCTACGATGTCATCACTGTGGGAGCCCCAGCTGCCCATTTTCAGGGATTTAAGAATGGTGGTCTTCGGAAGCTACTCCATAGATTTGAAACAGAAAGAAGAAA|ATGACTCCTCTCTCTTGATGGCTTTGATGAAGCAAGTAAGCCACCATACTGGAGAAGTCCCTGTGGCAAAGAACTCAGGGCCTTAGTCCAAGAGCCCTCAAAGGATTAAATTCTGACAACTTCATAAGTGAACTTGAAAGTGGATACTTCCCAGTTGAGCCTTCAGATGAGAACCCAGCCTGCGGACACCTTGACTAAAGCCATATCAGAG MEIKEEGASEEGQHFLPTAQANDPGDCQFTSIQKTPNEPQLEFILACKDLVAPVRDRKLNTLVQISVIHPVEQSLTRYSSTEIVEGTRDPLFLTGVTFPSEYPIYEETKIKLTVYDVKDKSHDTVRTSVLPEHKDPPPEVGRSFLGYASFKVGELLKSKEQLLVLSLRTSDGGKVVGTIEVSVVKMGEIEDGEADHITTDVQGQKCALVCECTAPESVSGKDNLPFLNSVLKNPVCKLYRFPTSDNKWMRIREQMSESILSFHIPKELISLHIKEDLCRNQEIKELGELSPHWDNLRKNVLTHCDQMVNMYQDILTELSKETGSSFKSSSSKGEKTLEFVPINLHLQRMQVHSPHLKDALYDVITVGAPAAHFQGFKNGGLRKLLHRFETERRk|* 11BR058 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 3 13 0 35 20 high stop-codon . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(2) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCAC)CAACTGCAGGA[a]AAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTGGTGAGGCAGAG . 11BR058 ENSG00000047056.16 ENSG00000272764.1(43516),ENSG00000134461.16(3659) +/+ ./+ chr10:1072293 chr10:5857957 CDS/splice-site intergenic deletion 11 3 0 66 18 high out-of-frame . . . . ENSG00000047056.16 . ENST00000263150.9 . downstream upstream . ^(ACTGCGGAGGAGCCGAACACTGACCGCGCCGTCCCCGCCAGGCTCCCGCGCGGCCGGCACCGCGGCCCTGAGCGCAGGCGGCCCCGGGTCTCAGGCCTCAGGCGGACCGCGCCCCGGGCTCGCAGCCCTCCCGCCCCGGCTGCCGGGCTACGGGGCAGATGGACTCGGAGCGCCCCGCCGGTGAGTAGCTACGACCCCCGAGGCCACCTCCCGCGAACCGCTCGGCGGCAGGAGTACGTGACCAAGGGTGGGGGCGTTGGCCCAGCAGCCGAAGGGGTCTTCAGCGCGCCCAGACCCCTCGGGGCTGCGGGGCGGAAGCCGGGGCGTGACTTCCGGCGCCGCCGGGTGTGGGGCGGAGGTGTGGGGCGGCTTCCGGAGAACCCAGCGGCGCGGGACTGGGGCGGGACTTCCGGCGACACCGGAAGTGCATTAGCGCCAGGTTGGGGTTGTGGGGTCGCGTCAGTGCGGAGACAGCGGTGTCCTGCGCGTCTTCGGGTCAGTACGGGGGGCCGCGTCGTAGGGACTCACTGGCGGTGCGCGACCT)GGGCTGGCTCCGGGGGTGGCGGGCGCAGCTGCTGTGACAG___CTTATTGCAGGAGTGACCAGGACACTACCTCCTAGAAGTAATGCCCACAGAAAGCGCAAGTTGTTCGACTGCTCGCCAAACAAAACAGAAGCGCAAATCCCATAGCCTTTCTATACGAAGAACTAACAGCTCGGAGCAGGAGAGGACGGGACTGCCAAGAGACATGTTAGAAGGACAA|GTTGGGGAGCAATCTTGGACCACATGGAAAAGGGCAACCTACTCAGGACAGCAGAACAACCAGCAGAAGGAACCGGGGGGCTGACACCTGGGGCTGGTTGAGCTCATCTGTACTTGGCTATGCCCAGACTCTTATGCGG MPTESASCSTARQTKQKRKSHSLSIRRTNSSEQERTGLPRDMLEGQ|vgeqswttwkratysgqqnnqqkepgg* 11BR058 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 5 0 34 30 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream mismatches(1) AAGCAGGAAATCCCAGAGCTTCAAACTG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCtTGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCC(CAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11BR058 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 9 1 24 61 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(1),mismatches(1) CTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGC?GCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACC(TAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR058 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 6 6 0 132 24 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCT)AATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR058 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 6 4 0 14 21 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream low_entropy(4) CTGGAGGCGGGGGCCGGGCTCCCACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG(___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11BR058 ENSG00000151240.17 ENSG00000151474.23 -/- -/- chr10:689494 chr10:13647035 CDS/splice-site 3'UTR/splice-site duplication 4 6 0 25 81 high out-of-frame . DMAP1-binding_Domain(100%)| . . ENSG00000151240.17 ENSG00000151474.23 ENST00000280886.12 ENST00000357447.7 upstream downstream . ^CTCGaTGCGGTTCCGCCGGGCGCGAGGAGCCGCCGAGACCTCCGCCTGCGAACAAAGAGGAGGCCGTGCGGGGCGCGGCGCCCGCGGAGCATGGCGGACCGCAGCCTGGAGGGCATGGCGCTGCCCCTGGAGGTGCGGGCGCGCCTGGCCGAGCTGGAGCTGGAGCTGTCGGAAG|GAGCTACAATGATAGCTGTTTCCTGGATTCCTCCCTCTATCCAGAACTAGCTGATGTCCAGTGGTACGGGCAGGAAAAAGCCAAGCCCGGGACCCTCGTGTGAGCCAGCCCGGCCTAATCTGACCGCCTCAACGCCATTCTGAGATCACCTCACTGCCTCTCATTTGCCTTACCCAGACGCACCGTCACCCTGCACCAGCTTTGGCCCTCAGCACTTTTTTTCTCCTGTCTCCGCATTCCCTCC(CCCTTGAAAACCTGACTGAGGAGACATTCTGGAAGGTTCCGGTCCCACTGTGTGTCCCCTGGCGCTCTTGCCCATAGAGAGCCAGACACCAATCCTCAATGGCACCTTGGTGGCTTCCCTCTGCCATGACAGCCCCTAGGCCAGGAACCATCAGGGGGGCCAGCCGGCATCCAATTCCTGCGGATAAGTAGCGTTGGGAGAGAACGGGAAAGGGGACTTGAGTTACAGGGTGACCCAGAAAGACGATTCAGCTGTGTCCAGCCTGCCACCCATACGTAGGCCAACCAAGCACTTCATGAAGAGGAGGCCTCGTGGCATATTCAGTTTACACCTGAAATATTCCTTGATGGGACAGCTTGTGGGGATGGCTATGGGGGAAGGGGAGGTTGAGAAAGGAAGTTCTCGACACCAGAAATGCATCGGAGGACCACAATCAGTTCTATGCTGCCAAAGATTAAAAATAAATAAAAACATAAAAAATTAAGAGGGGCCAAGAGGAAGACATTCTTTCTGCAAGGAAATTTCTTTTAAATTCTGAACTGCTACTACACACAAGTGAAAGTCAACCCTATGTAAACTGGTGTCCTCTCTCTAGCCCTCTCCCTTACTGGCCCACTTCTCTCTCCGTAGAGAGCCTGAAAAACTGCCCCAATGCCACGGTAAAGGCGAGGAAGTCTTGGCTGGCGTTGCTGACTCACAGTCGCCATCCATCTGGACACAAAGAGAGACCTGTGGGAGTCGTAGAGGGTACTGTTAGCCCCGGTCCATGCAGGGGGTTCAGCCGAGCCCAAGACTCAAAGCTGCTTTCCTTTCAGGATTTGTAGTAACGTAAGGTGATAATGGCCAAAAGTGGTTCTCTCTCATTAAACCAACCAGTAAAAGCGTATCCTATTTTTTTGCACAAGGTGTTTCATTTTCGTTTTTATGGGAAACCAAGGGAAAAGCACATTGCGATCCATTCAGTGTTTAACTGTCGTGGCTCATTTTCTGTTCGTTAGCACTTGTGTGACAAAAGAGCTCAGATCCGACTTCTCCTATGTGTCACTTATTCCAAGAACCCAACTATGCCCTTAGGTAGAAAGATTTGACTCGTGTGTCTACTAGCCAACAGGCAGAGCAGGGTTGAAAAAAATATCAGCTCCCAAAGGGCCCATGTGTCTACATCATCAGTTACTGTCATGCACCACATTTGTGTGCAGATACCAAAAGAGGAGGAAAGAAGAAAAAAATTAATGTGTGGGAGCTGCACGTTTACATGTTTTGAGCTATGCTTCAAACACAACTGGAAAGCCATCAATCTTCAAAGGCCTCAAAAATACTTTTATAGTAACAAGTGCACGACTTTAGTTGGGTTATTCAAGATGGCACAAAAAGGTTTCCGCAGAGGTGGTATGCTGTGCTTTTGGCGCAAGTGGTGGGGGGATGGGGTGGGGGTGGAATTTTTTTCTCACTCTAATGACTTCCTATTGGAAAGGCATTGACAGCCAGGGACAGGAGCCAGGGTGGGGGTAGTTTTGTGGGAAAGCAGAACTGAAGTTAGCTTAAGCATAAAAACAAAGAAAAATCTTCGCTTTTCATGTATGTGGAATCCAAGAATAACCATAGGCTCTACCAGACCAGAAGGGTAAGGATGGACACTAAAATGAAACAAATACCAAGGTATTCCTTCTGCTGCAGCCTGGAGACCACCGAGAGTCGAGCTGGGGCACACACACACCTGGCCGGGACCCGGCAGGGACAAGGCGGGCCGTGGCCTCCTCCACCAAGTCTCTCTAGACAATTCAGGGCCTGCTTTCCCCAGCTCCATGCATGGCTGGACTGGTGATTCCAGGGTGCAGAAGGGATTCATATTCCCAGAACGCTTTAAGTGTACACCTGCAGGATAAAGAGATACCGGTTACATTATTAAATGATTCTAGGGATTCACTGGGGGATATTTTTGTTGCTTTTACTTTCATGGTTAGAGCTACAAAGAACAGTGATTTTTTTTTTTTCTCCCTTCCCCATTCAGAAACATTATACATTGGGCCATTTTTCTTTCTCCCAAAGAAGATTCATGGATAGTCAGACTGAACTGTGTGCAACAGGAAAAGTCAAAAGGGAAAAGGTAGCTGATGAGGTTACATGGTTACATGTTCTACATCATGCATAGTAGCTTGAAATCTAGTCTGGAGAAAACTGGATCAAGATTCTAGCCCACTGGAGTTGCAAGGAATGAGAGGCAAAAATTCTAAAGATTTGGGTTATATTTTCAACTTGGGGGACAGAGAGAAATGGAGAGCAGGAATTACAGTTCCAACAAACATCATGATAGTCTGGTAGTCAAGACAGAGATTAAGTAAAACAGGTTTTACTGTTTAGCTGAGTTCAGTTAATACAAAATGTACATAAAACGTTAGTCCTTTGAGACTGACATGATTAATGATCAGTGTGGTGGGAAATGATGTAGTTATTGTACACAAGCACTTGCAAACTCTTTATCCCTATTTCTTTAAAACAAAATAAGGTGAAATACGAAGTCCTTGGTCTGATATAAAGCCCCTATTGGATTCTTCGGATGCGTAAAAGAAATTGCCTGTTTCAGCCAGAAGACTGGTGAAAACACATACATCAGACTATGTTGTGAGCCAGGTTGATTTTTTATTTTATTATATGCAGGTGAGTGTTGAAACTGTTAAAATTCCAATTTGTTTTCATTCAGTATTAGTTTAGTTCTAAATATAGCAAACCCCATCCAGGTGCTATCAGATGACCAGTTACTGCTTAGTTAACTAGGTGTAAAGTTTTACATATACATTAATGTCAATAGTTTATTACAAGTTGTGTAAAATGGACTCTAGTTTAATAATGGGGGAAAAAAGATTAGGTTGCTCCTGAAACTGACTGTAGAGCATGTAAAATGATTTTACTGGATTCTGTTCAACTGTAATCAATGAAAAAGATGTACGTTGTAGACAAAGTTGCAGAATTAAAAAAAGAAATCTGCTTTTAATTTATTCTTTTTGTATTAAGAATTTGTATAGTACCTTTACATTTTGCAAAACAGTGTTGTCAACACTTATTAAAGCATTTTCAAAATGAAAAGA)$ MADRSLEGMALPLEVRARLAELELELSE|gatmiavswippsiqn* 11BR058 ENSG00000203859.10(5481),ENSG00000232780.2(5650) ENSG00000203857.10 ./+ +/+ chr1:119428516 chr1:119507392 intergenic 5'UTR/splice-site deletion/read-through 2 8 0 147 15 high . . . . . . ENSG00000203857.10 . ENST00000369413.8 downstream upstream duplicates(1) GGCTGTCTGGATCTACGGGAATACTAAAAAAGGGCACCGCAGAAATCCACAACTGAGAAATACTGGCTGGTAGTGGCTATGGCTGATAGAAGG|CCCTCTCCAGGGTCACCCTAGAATCAGATCTGCTCCCCAGCATCTTCTGTTTCCTGGTGAGTGATTCCTGCTACTTTGGATGGCCATGACGGGCTGGAGCTGCCTTGTGACAGGAGCAGGAGGGTTTCTGGGACAGAGGATCATCCGCCTCTTGGTGAAGG(AGAAGGAGCTGAAGGAGATCAGGGTCTTGGACAAGGCCTTCGGACCAGAATTGAGAGAGGAATTTTCTA___AACTCCAGAACAAGACCAAGCTGACAGTGCTGGAAGGAGACATTCTGGATGAGCCATTCCTGAAGAGAGCCTGCCAGGACGTCTCGGTCATCATCCACACCGCCTGTATCATTGATGTCTTCGGTGTCACTCACAGAGAGTCTATCATGAATGTCAATGTGAAAG___GTACCCAGCTCCTGTTAGAGGCCTGTGTCCAAGCTAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAATGGCCATGAAGAAGAGCCTCTGGAAAACACATGGCCCGCTCCATACCCACACAGCAAAAAGCTTGCTGAGAAGGCTGTACTGGCGGCTAACGGGTGGAATCTGAAAAACGGCGGCACCCTGTACACTTGTGCCTTACGACCCATGTATATCTATGGGGAAGGAAGCCGATTCCTTTCTGCTAGTATAAACGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCCACTGTTAACCCAGTCTATGTTGGCAATGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCCCTGCAGGACCCCAAGAAGGCCCCAAGCATCCGAGGACAGTTCTACTATATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACACCCTGAGCAAAGAGTTCGGCCTCCGCCTTGATTCCAGATGGAGCTTTCCTTTATCCCTGATGTATTGGATTGGCTTCCTGCTGGAAATAGTGAGCTTCCTACTCAGGCCAATTTACACCTATCGACCGCCCTTCAACCGCCACATAGTCACATTGTCAAATAGCGTATTCACCTTCTCTTATAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACGGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAGATGTCATCAAGCTCCACCCTCCTGGCCTCATACAGAAAGTGACAAGGGCACAAGCTCAGGTCCTGCTGCCTCCCTTTCATACAATGGCCAACTTATTGTATTCCTCATGTCATCAAAACCTGCGCAGTCATTGGCCCAACAAGAAGGTTTCTGTCCTAATCATATACCAGAGGAAAGACCATGTGGTTTGCTGTTACCAAATCTCAGTAGCTGATTCTGAACAATTTAGGGACTCTTTTAACTTGAGGGTCGTTTTGACTACTAGAGCTCCATTTCTACTCTTAAATGAGAAAGGATTTCCTTTCTTTTTAATCTTCCATTCCTTCACATAGTTTGATAAAAAGATCAATAAATGTTTGAATGTTTAA)$ . 11BR058 ENSG00000148498.16 ENSG00000237002.6(45647),ENSG00000229644.6(33682) -/- ./+ chr10:34347965 chr10:36488039 CDS/splice-site intergenic inversion 4 4 0 148 7 high out-of-frame . N-terminal_of_Par3_and_HAL_proteins(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%)| . . ENSG00000148498.16 . ENST00000545260.5 . upstream upstream . ^(CCCAGCGGCCCCGAGCGAGCGCCAGCGCCACACAGCCCCGGGCAGCCGCCGGCGAGCGCGCCGCGACGCCGAACAGGTGGCCGGAGGCTGCGGGCGCCGCGGCGGGGAGAGGCGAGGCAAGCCCCGGGCGAAGCGAGGCGAGGCGAGGGCGGCCGGGCCGGGCATGCGAGCTGAGCGGCCCCCCGGCGTCGCCGCCGCCTGCCCGCGCCCCTAGCCGCCCGCGCGCCCGAGTCCCCAGCGGCTCCTCCGCGCCCAGCGTCCTCGGTCCCGGCCTCGGCTGCTCCGGCTGCGCTCGGCGAGGGGCGCGGGCCCGCCCGCGGCGGCGGCGGCATGAAAGTGACCGTGTGCTTCGGACGGACCCGGGTGGTCGTGCCGTGCGGGGACGGCCACATGAAAGTTTTCAGCCTCATCCAGCAGGCGGTGACCCGCTACCGGAAGGCCATCGCCAAG___GATCCAAACTACTGGATACAGGTGCATCGCTTGGAACATGGAGATGGAGGAATACTAGACCTTGATGACATTCTTTGTGATGTAGCAGACGATAAAGACAGA___CTGGTAGCAGTGTTTGATGAGCAGGATCCACATCACGGAGGTGATGGCACCAGTGCCAGTTCCACGGGTACCCAGAGCCCAGAGATATTTGGTAGTGAGCTTGGCACCAACAATGTCTCAGCCTTTCAGCCTTACCAAGCAACAAGTGAAATTGAGGTCACACCTTCAGTCCTTCGAGCAA___ATATGCCTCTTCATGTTCGACGCAGTAGTGACCCAGCTCTAATTGGCCTCTCCACTTCTGTCAGTGATAGTAATTTTTCCTCTGAAGAGCCTTCAAGGAAAAATCCCACACGCTGGTCAACAACAGCTGGCTTCCTCAAGCAGAACACTGCTGGGAGTCCTAAAACCTGCGACAGGAAG___GATGAGGATGGGACAGAAGAGGATAACAGTCGTGTTGAACCTGTTGGACATGCTGACACGGGTTTGGAGCATATACCCAACTTTTCTCTGGA___TGATATGGTAAAGCTCGTAGAAGTCCCCAACGATGGAGGGCCTCTGGGAATCCACGTAGTGCCTTTCAGTGCTCGAGGCGGCAG___AACCCTGGGGTTATTAGTAAAACGATTGGAGAAAGGTGGTAAAGCTGAACATGAAAATCTTTTTCGTGAGAATGATTGCATTGTCAGGATTAATGATGGCGACCTTCGAAATAGAAGATTTGAACA___AGCACAACATATGTTTCGCCAAGCCATGCGTACACCCATCATTTGGTTCCATGTGGTTCCTGCAGCAAATAAAGAGCAGTATGAACAACTATCCCAAAGTGAGAAGAACAATTACTATTCAAGCCGTTTTAGCCCTGACAGCCAGTATATTGACAACAGGAGTGTGAACAGTGCAGGGCTTCACACGGTGCAGAGAGCACCCCGACTGAACCACCCGCCTGAGCAGATAGACTCTCACTCAAGACTACCTCATAGCGCACACCCCTCGGGAAAACCACCATCCGCTCCAGCCTCGGCACCTCAGAATGTATTTAGTACGACTGTAAGCAGTGGTTATAACACCAAAAAAATAGGCAAGAGGCTTAATATCCAGCTTAAGAAAG___GTACAGAAGGTTTGGGATTCAGCATCACTTCCAGAGATGTAACAATAGGTGGCTCAGCTCCAATCTATGTGAAAAACATTCTCCCCCGGGGGGCGGCCATTCAGGATGGCCGACTTAAGGCAGGAGACAGACTTATAGAG___GTAAATGGAGTAGATTTAGTGGGCAAATCCCAAGAGGAAGTTGTTTCGCTGTTGAGAAGCACCAAGATGGAAGGAACTGTGAGCCTTCTGGTCTTTCGCCAGGAAGACGCCTTCCACCCAAGGGAACTG___AAAGCAGAAGATGAGGATATTGTTCTTACACCTGATGGCACCAGGGAATTTCTGACATTTGAAGTCCCACTTAATGATTCAGGATCTGCAGGCCTTGGTGTCAGTGTCAAAGGTAACCGGTCAAAAGAGAACCACGCAGATTTGGGAATCTTTGTCAAGTCCATTATTAATGGAGGAGCAGCATCTAAA___GATGGAAGGCTTCGGGTGAATGATCAACTGATAGCAGTAAATGGAGAATCCCTGTTGGGCAAGACAAACCAAGATGCCATGGAAACCCTAAGAAGGTCTATGTCTACTGAAGGCAATAAACGAGGAATGATCC)AGCTTATTGTTGCAAGGAGAATAAGCAAGTGCAATGAG___CTGAAGTCACCTGGGAGCCCCCCTGGACCTGAGCTGCCCATTGAAACAGCGTTGGATGATAGAGAACGAAGAATTTCCCATTCCCTCTACAGTGGGATTGAGGGGCTTGATGAATCGCCCAGCAGAAATGCTGCCCTCAGTAGGATAATGG|GGCAAAGAGAATGAGGCCTTCCTTATCAAATGTGTGTGAGTGCTGCTTGCTGCCTGGTGGAGGATACTGAACATAGAAATGTCATAACTGAAGATTCCCGAGGGTGGCATTGGTATATAAACGGCAGTGGAGAAACTCTGCTTTTGGTGAAGCTACCAAATCTGTGTGTGTATATCTAGCAAAAATATACCACATTAAAGGATATCAAATTTACCATTTTAAGCATATAGTACAG MKVTVCFGRTRVVVPCGDGHMKVFSLIQQAVTRYRKAIAKDPNYWIQVHRLEHGDGGILDLDDILCDVADDKDRLVAVFDEQDPHHGGDGTSASSTGTQSPEIFGSELGTNNVSAFQPYQATSEIEVTPSVLRANMPLHVRRSSDPALIGLSTSVSDSNFSSEEPSRKNPTRWSTTAGFLKQNTAGSPKTCDRKDEDGTEEDNSRVEPVGHADTGLEHIPNFSLDDMVKLVEVPNDGGPLGIHVVPFSARGGRTLGLLVKRLEKGGKAEHENLFRENDCIVRINDGDLRNRRFEQAQHMFRQAMRTPIIWFHVVPAANKEQYEQLSQSEKNNYYSSRFSPDSQYIDNRSVNSAGLHTVQRAPRLNHPPEQIDSHSRLPHSAHPSGKPPSAPASAPQNVFSTTVSSGYNTKKIGKRLNIQLKKGTEGLGFSITSRDVTIGGSAPIYVKNILPRGAAIQDGRLKAGDRLIEVNGVDLVGKSQEEVVSLLRSTKMEGTVSLLVFRQEDAFHPRELKAEDEDIVLTPDGTREFLTFEVPLNDSGSAGLGVSVKGNRSKENHADLGIFVKSIINGGAASKDGRLRVNDQLIAVNGESLLGKTNQDAMETLRRSMSTEGNKRGMIQLIVARRISKCNELKSPGSPPGPELPIETALDDRERRISHSLYSGIEGLDESPSRNAALSRIM|gqre* 11BR058 ENSG00000165630.14 ENSG00000234814.8 +/+ +/+ chr10:13616553 chr10:30712558 CDS/splice-site exon/splice-site deletion 2 4 1 245 43 high out-of-frame . Prp18_domain(100%),pre-mRNA_processing_factor_4_(PRP4)_like(100%)| . . ENSG00000165630.14 ENSG00000234814.8 ENST00000378572.8 ENST00000422642.6 downstream upstream mismatches(1) ^(AGTTGTTCTCAGGTGTTTGGGCTTGTTGTTCCGTATACTCAGTGGGTTCGCGGCCGCCGGCCCAGTGAGGCTGGGTTCGAGGAGCTGGAGCGGGAAACTGGAGCTTAAATTCTGGCGGCGAGATGGACATTCTGAAATCAGAGATCCTTCGGAAGCGGCAGCTGGTGGAGGACAGGAACCTGCTGGTG___GAAAATAAAAAATATTTCAAGCGTAGTGAGCTCGCCAAAAAAGAAGAGGAAGCATATTTTGAAAGATGTGGCTACAAG___ATACAGCCAAAAGAGGAGGACCAGAAACCATTAACTTCATCGAATCCAGTGTTAGAACTTGAACTGGCAGAGGAAAAATTACCTATGACGCTTTCTAGGCAAGAG___GTCATCAGAAGATTGAGAGAAAGAGGAGAACCAATCAGACTATTTGGAGAGACTGATTATGATGCTTTTCAACGTTTAAGGAAAATAGAGATCCTCACACCAGAAGTTAACAAG___GGATTGAGGAATGATTTGAAAGCAGCCTTGGATAAGATTGATCAGCAGTACCTCAATGAAATCGTCGGCGGTCAGGAGCCTGGAGAGGAAGACACACAGAATGATCTGAAAGTTCATGAGGAAAACACCACAATTGAAGAGTTAGAG___GCGCTTGGAGAGTCCTTAGGGAAAGGCGATGATCATAAAGACATGGACATCATCACCAAATTCCTGAAG___TTTCTTCTTGGCGTTTGGGCTAAAGAATTGAATGCCAGAGAAGATTATGTGAAACGCAGTGTGCAGGGTAA)ACTGAACAGTGCGACCCAGAAACAGACCGAGTCCTACCTAAGACCACTTTTTAGAAAGCTACGGAAAAGG___AATCTTCCTGCTGATATTAAAGAATCAATAACGGATATTATTAAATTCATGTTGCAGAGAGAATACGTGAAG___GCAAATGATGCTTATCTTCAGATGGCCATTGGAAATGCGCCTTGGCCCATCGGTGTCACTATGGTTGGTATCCATGCCAGAACTGGCAGAGAAAAGATTTTTTCCAAGCATGTTGCACATGTTTTAAATGACGAAACTCAGCGGAAATATATTCAG|GAAAAAAATCTCAAGAAGCCAGTCCCCAAGTCTTACCTTATCCATGCTGGTCTGGAGCCCCTAACATTCACCAATATGTTTCCTAGCTGGGAGCACAGAGACGACACTGCTGAGATCACAGAGATG___GACATGGAAGTTTCCAATCAGATCACCCTCGTGGAAGACGTCTTAGCCAAGCTCTGTAAAACCATTTACCTGCTG(GCCAACCTCCTGGCCAGGCCACTCCCGGAGGGGGTCGATCCTCTGAAGCTTGAGATCTATCTCACCGACGAAGACTTCGAG___TTTGCACTAGACATGATGAGGGACGAATACAATGCCCTGCCTGCCTGGAAGCAGGTGAACCTGAAGAAAGCAAAAGGCCTGTTC)$ MDILKSEILRKRQLVEDRNLLVENKKYFKRSELAKKEEEAYFERCGYKIQPKEEDQKPLTSSNPVLELELAEEKLPMTLSRQEVIRRLRERGEPIRLFGETDYDAFQRLRKIEILTPEVNKGLRNDLKAALDKIDQQYLNEIVGGQEPGEEDTQNDLKVHEENTTIEELEALGESLGKGDDHKDMDIITKFLKFLLGVWAKELNAREDYVKRSVQGKLNSATQKQTESYLRPLFRKLRKRNLPADIKESITDIIKFMLQREYVKANDAYLQMAIGNAPWPIGVTMVGIHARTGREKIFSKHVAHVLNDETQRKYIQ|eknlkkpvpksylihaglepltftnmfpswehrddtaeitemdmevsnqitlvedvlaklcktiyllanllarplpegvdplkleiyltdedfefaldmmrdeynalpawkqvnlkkakglf 11BR058 ENSG00000282246.1 ENSG00000234814.8 +/+ +/+ chr10:13616553 chr10:30712558 CDS/splice-site exon/splice-site deletion 2 4 1 245 43 high . . . . . ENSG00000282246.1 ENSG00000234814.8 ENST00000601460.5 ENST00000422642.6 downstream upstream mismatches(1) ^(GAATGATTTGAAAGCAGCCTTGGATAAGATTGATCAGCAGTACCTCAATGAAATCGTCGGCGGTCAGGAGCCTGGAGAGGAAGACACACAGAATGATCTGAAAGTTCATGAGGAAAACACCACAATTGAAGAGTTAGAG___GCGCTTGGAGAGTCCTTAGGGAAAGGCGATGATCATAAAGACATGGACATCATCACCAAATTCCTGAAG___TTTCTTCTTGGCGTTTGGGCTAAAGAATTGAATGCCAGAGAAGATTATGTGAAACGCAGTGTGCAGGGTAA)ACTGAACAGTGCGACCCAGAAACAGACCGAGTCCTACCTAAGACCACTTTTTAGAAAGCTACGGAAAAGG___AATCTTCCTGCTGATATTAAAGAATCAATAACGGATATTATTAAATTCATGTTGCAGAGAGAATACGTGAAG___GCAAATGATGCTTATCTTCAGATGGCCATTGGAAATGCGCCTTGGCCCATCGGTGTCACTATGGTTGGTATCCATGCCAGAACTGGCAGAGAAAAGATTTTTTCCAAGCATGTTGCACATGTTTTAAATGACGAAACTCAGCGGAAATATATTCAG|GAAAAAAATCTCAAGAAGCCAGTCCCCAAGTCTTACCTTATCCATGCTGGTCTGGAGCCCCTAACATTCACCAATATGTTTCCTAGCTGGGAGCACAGAGACGACACTGCTGAGATCACAGAGATG___GACATGGAAGTTTCCAATCAGATCACCCTCGTGGAAGACGTCTTAGCCAAGCTCTGTAAAACCATTTACCTGCTG(GCCAACCTCCTGGCCAGGCCACTCCCGGAGGGGGTCGATCCTCTGAAGCTTGAGATCTATCTCACCGACGAAGACTTCGAG___TTTGCACTAGACATGATGAGGGACGAATACAATGCCCTGCCTGCCTGGAAGCAGGTGAACCTGAAGAAAGCAAAAGGCCTGTTC)$ . 11BR058 ENSG00000167461.12 ENSG00000205396.11 +/+ +/+ chr19:16121810 chr19:16020588 CDS/splice-site exon/splice-site duplication 1 6 0 161 10 high out-of-frame . Ras_family(100%)| . . ENSG00000167461.12 ENSG00000205396.11 ENST00000300935.8 ENST00000549354.6 downstream upstream mismatches(1) ^(GAGAGAGTGTAATATGGCGAAGACCTACGATTACCTGTTCAAGCTGCTGCTGATCGGGGACTCG)GGGGTGGGGAAGACCTGTGTCCTGTTCCGCTTCTCCGAGGACGCCTTCAtCTCCACTTTTATCTCCACCATAG___GAATTGACTTTAAAATTAGGACCATAGAGCTCGATGGCAAGAGAATTAAACTGCAGATATG___GGACACAGCCGGTCAGGAACGGTTTCGGACGATCACAACGGCCTACTACAGGGGTGCAATG|TGAGACGTAGCTGCCACCCATCAGTGCCCTGGAAGTGAAG___AGAAGACATCAGGAGATGAGGGACACAGAAAAATGGCTCCAGGTGCTTCTCGACTGCCAGCGACATAGGAGCGGCAAGGAG(___AGCAAGTAATGACGCCCTCCTCCCAGACTTGCCCCAAAGCCCCCCAGAGCTTGGTGGTGTCCCAGGACGGTCCTCCCAGGAAACATTTTGAATAAGTTGCTGAAGTGCCTGATGGACGTGGCTCTCGTCACGAAATGAGTTTGGATCCGAGAAGCCCTCTTCTTCATCGGAAAACAG___TGCCTCATCAATGAAGTAAGCAG___GCAGCTACGTTCTGGATGGCTAGCATGTACCGAAGGCACAAAACCTCCAGAGTTGGCAGAGTTAAGTCCTGGCGTGCCCGAGGCTATCCAGGGGAACACGCGGGACAGACAGCACCCTCAGCCTGTCCCCATGACCCTCTGCTCCAGTCTGAGGGGCAGGACACCATGAGACCTCTCAGACACAGAGTCCACCCTCGACATGACCCGGATGAAAGGCAGGAGTGTG___CTCGCTGAAGGGGACCCATCTCTGCAAGCCCACAGCCCTACCTGCAGCATCCACAGCCTCAGAGAGCAGCGGGGCCCCTTACCCCTGAACCCCCTCCAAGAGCATCAGGACAACAAGCCTTGAGCTGTGGAGACAAGAGAATCAGTATCCCTGGCCCAGGGAGGATTCCAGGAGAGGACACGGGCAGGAGCCCTGGCCCAGAGCCAGAACCAAGAGTCCAGCCAG___CGAAACTGGAACTAGGGTCCCCGGCACCCAGGACTCTGCGAGCATCCCCCAACAGCAAGCCCTTCTGCAAGGGAGACGGGTTGGCCCACCCCAGGCTGTCCAGCTCCAGCAGCCTTGCAGGCAGCCTCTCCAGAAAAAGAGCCTGGTCCTCCCCACCCTGCTCCCCACAGGCTGTCCCTGACCCTGAGGCCCAGAGGCACAAGAGGACTTCTGTAGAGCCCAGGGGAGCAGGCTGTTCTCTTGGGGCCCCAGCGGGCTCAAGGTGTGGCCAGGCTGTCCCCAACTCAGGATAGATCATAGGCTGTCCTGCGTACCTCCTCTGGAACTCCCTGCCCAAGCTCTGCCATGGACCTGGACGTCAGGGGCCTGTGGTTTAACTTTGAATAGGGATTCTGGACCTTACACGTGTGCCCTGGACAGCCCCAGAACCATGGGGTGGGGACCGACCCAGCAAGCCCACCGGGGCCCTGAAACCCGGCCCTGCCGGACACTGTGATAATAACCAAGAGGCAAGTCCAGAGACATCCACTTTGCCCAATGGCACCTGCATCCAACTTCTCAGCAGGCAGTGACTGGCATGGTGTGGGGGCAGCCGGGGCAGCACCTGGCCAGCACCTGGCCAGCTGCCCTGTAGCCCCCGATGGCTCCAGTGCCTCTGGACCTCATTTTCTACTTTCTACGGGGAAACCTACTCCCTCAGAGGCCACCAGAGGGAAGAGTGAGCAAGGCGTTCCTGCAGTCCCGACCAGCCAGCGGCATGTCCTGTGGCCTCTGACTCAACCTATGAGACAGAGCTCTGATCCCAGGGCACACTTCCCAGGACACGGGGCCCAGCCTCAACCAGAGCCCTGTGAAGGGAGGGGCACCAGGATGACCACATGGGGGACCATGGCGCTGCACACCTGGGCACTGTACTTCTCATTGGAGAATCCAGGCAAGATCTTGAAGCAGGTGCATGAGGTCCTGAGCCTGTGCAGCAAACAGCACTCATCTGGGGTTGGCACGAAGGGGTCTACAGAGCCACGGCCACCGCAGCCTCTTCCCGGCCCCATCTGTGCAGTGCAAGTGATCCACGCCTGCTCCTAAACCCAGCCCAGCAAGCAGCAGCAGCCCGGGCCCCCAAGCCCGCCAGGCCAATGTGCTGCCCAGAGGCTTCGAGGCCCTGCCCGCTGTACCTCCCACCACCTGGAAGCTGCCTCCTGACGCCTTCCAGCCACTGCTGCAGCCGCAACAGGTGTCGCGGCCAGTGCAGGCTTTCCAGACGGTGGCAGCGCCCAGCAGCCGTTGCCTCAGCTCTTTGGTGGCAGCCAGGCCAACAAGGGCAGCAACGATGACTAGGATGATGAGTGAGCAAACAGCTCCACACTGGTGGACAGGCTGGGTGCGCACCCGGTGGTCCTCAAAGGCTCGCTGGGCCTGTACCACCGTTATAAATTTGAGATCATGAGATTATACCGTTTGCCTTCTTGCTTTTTGAAGTACGAGTATTTTTATGCACACTTTGTAGACTTCAAAATCCATGAAGAGTCTCAAAGAAGCCGGATGGATGGAGCCTGCTGCGGATGCCTTTTACTCTCGTAGATCAGGGTGATTTACATTCCACCTGTAGTCTGCTTGCAAACACACAGAGCAGCCTTGCAGCTTTGTGCCTTTAGACTCTTGGTTTTGCATTTCTCCCTGCTCCCTTCTTCCTTCCAGTAAGCTGCAACTTTTCTGATTGAAAGGGTGCAAGGCTAACACACGGAATGACTAACTCAGGATCACATACTGGCAGTGGGAGAGGCAGGAGGAGCAGCTGCCATCAATTGCCAGGGCCAAGTGGATGATAGGATGGATGCTGGTGCATGCGGAGGAGGCAGACGCAACGCTCATCTCTAATAATGATGTCTGTTCCCTCAGAGGCGGCTAGAGCATCACCTCTTCACGCAAGTGTCTTGAAACTCAGCTTGAAGATTTCAGCAAATGTGTCTTACAGAGAAGAGAAGAGGGAGTCAGCCCATCGGGATTAAAAATATAGAGGCAGTGACAACACACACTCGGCTTCAGTTCTTAGGAGAGTTTTGGTTTTGATTTTTTTTTTTTTTTTGGAGAAGATTTTTTTTTTAATGGATCTACACTGTTAACTGAGACTCTGTTGAGATTCACTGGTTTACTTAAAAACTTCTCAGGGATGTCTGTAAATTTCAGTGTTATATGTCATGAAAACTGGTGTGGGCAGATCTGTTGGTTGAAATAATTTCTACTGTTTCAAATACTGAAGGCAGGAATAATTGGTTTATACTGTGTTTTAAATAGAAGTATTACTGGTAAGTCCCCCAGGACATTAAACCTTAAAAATCA)$ MAKTYDYLFKLLLIGDSGVGKTCVLFRFSEDAFiSTFISTIGIDFKIRTIELDGKRIKLQIWDTAGQERFRTITTAYYRGAM|* 11BR058 ENSG00000108100.18 ENSG00000183049.12 +/+ +/+ chr10:35337207 chr10:12553225 CDS/splice-site CDS/splice-site duplication 1 4 0 150 37 high out-of-frame . |Protein_kinase_domain(100%) . . ENSG00000108100.18 ENSG00000183049.12 ENST00000374704.8 ENST00000619168.4 downstream upstream . ^(ATCCTCCCTGGCCGCGCCGCACCGCGCCGCGAGGAGTCCGGGGGCTGCGCCCACGCCCGCTGCCCGCCCGCTCGTCGGCTAGTCCCGCCGTCCGGCGCGGACACGCGTGCCCCCGGCTTGAACCGGAACCTCTTGCCGAGGCGGCCGCCGTCGCCGCAGCCGCCGGGGAAGCGGACACCAACTGGGGAAGCGCGGGGGGGAGGCGGCCTGCGCGGCGCCGCCCGCCATGGCCGCGGCGGGGTGAGGTAGGCGCGGCGGCCGCAGTCGCGCGGACCCGAGCGCTCCTCCGCCGCGGATAGGCCGGCCGAGGGGGAGCCGGGGCCGTCGCCCGCTCGTCGCCGCCGCCGCCGCCGCCGCCCATGGCGAGGCCCCGCCGCCGCCGCCGCTGCTGACCCGGCGGCCGGCCGCCGTTCCGCCCCCTCCCGTGGCGGCGAGCGGGCGGGCCTCCCCACACGCCCCCGCCGCCCGCGCCCCGCGTCCACCCGCGCCCCGCTCCCGGGGACTGGGAGAACAGGATAGCAGCAGGAGTCGGGGGGCCGCCGAAGATGGGGAACA)CTACCTCGTGCTGCGTGTCGTCCAGTCCCAAGCTCCGGAGGAATGCCCACTCCCGGCTGGAGTCCTACCGGCCAGACACGGACCTGAGCCGCGAGGACACGGGCTGCAACCTGCAGCACATCAGCGACCGGGAGAACATAGACG|CGGGGCCTTTTCCGAAGTGGTTTTAGCTGAAGAGAAGGCAACTGGCAAGCTCTTTGCTGTGAAGTGTATCCCTAAGAAGGCGCTGAAGGGCAAGGAAAGCAGCATAGAGAATGAGATAGCCGTCCTGAGAAA___GATTAAGCATGAAAATATTGTTGCCCTGGA(AGACATTTATGAAAGCCCAAATCACCTGTACTTGGTCATGCAGCT___GGTGTCCGGTGGAGAGCTGTTTGACCGGATAGTGGAGAAGGGGTTTTATACAGAGAAGGATGCCAGCACTCTGATCCGCCAAGTCTTGGACGCCGTGTACTATCTCCACAGAATGGGCATCGTCCACAGAGACCTCAAG___CCCGAAAATCTCTTGTACTACAGTCAAGATGAGGAGTCCAAAATAATGATCAGTGACTTTGGATTGTCAAAAATGGAGGGCAAAGGAGATGTGATGTCCACTGCCTGTGGAACTCCAGGCTATGTCG___CTCCTGAAGTCCTCGCCCAGAAACCTTACAGCAAAGCCGTTGACTGCTGGTCCATCGGAGTGATTGCCTACATCTT___GCTCTGCGGCTACCCTCCTTTTTATGATGAAAATGACTCCAAGCTCTTTGAGCAGATCCTCAAGGCGGAATATGAGTTTGACTCTCCCTACTGGGATGACATCTCCGACTCTG___CAAAAGACTTCATTCGGAACCTGATGGAGAAGGACCCGAATAAAAGATACACGTGTGAGCAGGCAGCTCGGCACCCATG___GATCGCTGGTGACACAGCCCTCAACAAAAACATCCACGAGTCCGTCAGCGCCCAGATCCGGAAAAACTTTGCCAAGAGCAAATGGAGA___CAAGCATTTAATGCCACGGCCGTCGTCAGACATATGAGAAAACTACACCTCGGCAGCAGCCTGGACAGTTCAAATGCAAGTGTTTCGAGCAGCCTCAGTTTGGCCAGCCAAAAAGACT___GTCTGGCACCTTCCACGCTCTGTAGTTTCATTTCTTCTTCGTCGGGGGTCTCAGGAGTTGGAGCCGAGCGGAGACCCAGGCCCACCACTGTGACGGCAGTGCACTCTGGAAGCAAGTGACTGGCCCTGGAGGTGGGGCCCGGGGTCGGGGCTGGGGAAGGGGAGCCCCAGGGTCGCCAGAGCCGCGAGCCACTCCAGCGAGACCCCACCTTGCATGGTGCCCCTTCCTGCATAGGACTGGAAGACCGAAGTTTTTTTATGGCCATATTTTCTACTGCAATTCTGAAGTGTTCATTTCTCACAAACTGTACTGACTCGAGGGGCGCTGATTTCATAGGATCTGGTGCTGTATATACGAATCTTGCAAAGCTCTAACTGAACGGACCTTCTTATTCCTCTCCCCTAACACCATCGTTTCCACTCTTCTCAGTGTAGGTAACCGTCTATGGTGTGTTTTTTCATTAATGACAAAAAAAAAAAGGTTTCAACTGGATTATTTAAATATTGGTAAATATTGTGCATTAGGGTTTGTTTTTCCTTTTAAGAAGTATGTCCTTTGTATCTCTAAGTTACATGACCTATATCTTTTCCTCTTTAATAGTAGTTTTATGTTAACCTTTAAGAGATTTGTTTTTCCTCAAAGGAGAATTTAAAGGTATTTTTTAAAATTCTAATAAGAGGATCAGCCGGGTGCAATGACTCATGCCTGTAATCCCAGCACGTTGGGAGGCCAAGTCGGGCGGATCACAAGGTCAGGAGATCAAGGCCATCCTGGCCAACATGGTGAAACCCCACGTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCACACACCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAATTCTAACAAGAGGATCATGAATCTGTCTCCAAGGCTAAGAGTGCCCTTCACCTCTACTCCTTCTGTTTCTCTCCCCTTCCCCAGGAGGAGGGGCCCCTCAGTTCTGCGAGGCTCTCTTCTCTGCGGGGGACTTTGGTAGAGAATCTGCACAGAGCCTTTGCTGGCAACCCATCCAGCAGAACCCACACCCACCAGAGACCCTAGAGGCCTCTTGCCATCAGCAACCAGAAATAAGCCTGCTCCCCCGAGACGCAGGGCTCAGCTTCACAGGCCAGACTTGCTGTGAGTGAGATGCCCACACTGCAGAGATGCAGGACCCTCCCTTGCAAAAGGAACCAGCTGCCATGTTGCTGAAAGTGGGCCCACACACAACCCTCATTTCTCACGAGAGCTAACAGATGAAAGCTCAGCTATGCAGTGTTAAAATTCATCTCTTTCTCTGTGGTTTTTAAAAAAATGCATTTCTAATCTTACACTTCACGTGGCCTCCAACACAAAGTTCTTTCTCCACATTTTTACCCTCTTCTCACATGAATGTTTTCCAAGGGAAGGAAGGGAGGGAAGCAGCCTTGGGAAAGGATCCATTTCTGGTGGTAAGGAGAGGGGGCCCTGCCAGGCTAATGGGACTTCAGCCACCACAGAGATGACCAAAGACCACCTCCGCCAGGCCCAGCCAGTGCTTGCAGCCCTCCCATTGGTCAGGGGAGTCTAAAATCAAAGATACATGGTGGTAGGGTCACCAAACGTCCCATTTGCCCGAGACTGAAGGATTTCTCAGGCTGTGGACATTTAATGCCAAAACCAGGAATATCCGGGGCAAAGCAGGCTGTGTTGTTCGCCTTTGTGGAGCCAGGCAGTGTGTGGCCCAGGGAAAGCTGCGTTTCATGGAGGCTTCCAGGAGGCTGCCCTGTAAAGCCAGGCAGGTGGCTTCAAGTGCCATTCCTGCAAGTGCCCCTGCTTCAGCTCTCAGGCCCATCCAATGCCTCGAGCCCACGGGGGTGTCCCGGCAGGTCTGCGTCATCACGACCCAGTAACGCTGCTGGCTGTGTCCTCATGCCCTCTTCCTCTGGCTGGCCAGTCATGGGAAGTCCTGTTGGTTGAGTCATCTTTGTCACTTCTACACCTTTGAGTATGTACAGGCTGAATGTTGAGTGATGCCCCCCCACCCTCTCAATAAACACACACACACACACACACACACACACACACACACACAATGTTATTAGGCACAGCAGCTCCATCCTGCTCCCTGAGAATGGCAGTGCAGGCACAGAGAAGAGCAGTTGGGAAGACAGGCAGCTGGTCTACCCTGTCCCCGCACACTTCACAGGCACTCCACTGCTTGGCAGGAATTCTGCATGGCATCTGCCACGCATGCTCACAGGGTGAAAAATCAAGCTGTCACTCTGCAAAATCTAAAAACCCTGGAAAGGTCTATAAGATGACATTAGACCCAGTTAAGAAGCAAGTGTCACCTGAGTTGGCCATGCAATGAATGAATATTATAAGCAGTATTGGAGAACTAGGCGGTTGCTTACTAAGAAGTGTCTTGGAAACATTCGAGTTCATACAGTGCATGACAAAGTAATAGAAGGCTGCAAGCGCTGAAAATGCACCCGAATCTGGTACCTAGGATGAGTACATGAATAGTGATGAATAGCCCTTTGTGCTGTGTGCTATATACAACCATTTGCATTCAGAAAGCAGCATTTGAAGCTGAGTTCCATTACTGGTGATTGAAGTATTTTCAGGAGCAGATACATGTGGTGCATGTTATATGCACTTAGTTTGAAAGTATCCCTCACCCAAAAAGTGCAGAACCTCTGAAAGGTGAGCCGTGGTGCAGGTGCCCCCCTCGCTGTTCGGGTCAGTTCTTGGCCATGCTTGGCCTGTCACACGCCGGGTCTCAACAACATCGTGCGAGGAGACAGTGACTGGTTTCAGCCCAAGAGTCAACTGTTGAGCATGACATCAGGAAGCCTGTACTGTCCTGATCCCACCAGGCTTGGGTTAATTTCCTATTGCTTCAGAGAAAGAGAGGCGCTCTTGTGCTTTTGAGAGAGCTCTCATGTTAAAAAGAGGTTGTCTTTGCACTGCGCTTGGTATGATTTGTTTTCTTATAAAACAGGAAGAGAACCTAGAATGTGCCTTTCGTGAAGGTCTGACAAATGGGGTCTCAGAGTCCTAGGACCCGCACCAAGGTCAGAGTCCACCTGTAGAGGCTGAGCATTTCTACATGCACCCAGGGTGCTGGGCTGAGGCTAAGGGTGGACGCGTAGACCCCATCACAGGCTTCCTTCCTGAGCCCAAGTCCCCCATTTGGTCACTATCCCTTCTCAGAGCAAGTGGATTCTCTTTTCCTCACTTGGAGTATTCAATGTTGAAGTAGTGGCCTGGAGTGGCCTTTCCCTCAGCTGCCTGTCTGGGCTCCCTGGCTTCCCGGATCTTCATCTCATACGTGAGGCAATAGGAGGAGTTTCTATTCATTGAGACAAACAGTGAGCGGGCACCAACAGGCCAGCAGCTTGGCCCTTTTCACAGAGGTGGCCTTGGAGTCTGGAGTCTGGGCAGCTGTCTGCCTCTCTACGGCTCTGCTTCCCAGCGGGCACACGGGTCCGGAGCCTCAGAATGAAGTGGTGCAGAGGCGCAGGGCACACCTAGGAGAAGCTCAATGACCACCAAAGCCCTTGAGGAGAGACGGGGTTTGCTGTGTTAGAGAAATGGCAACCCCCAGGACCATGCACGGCTCTGGCAGTGCACAGTGGCTGATTTTCACCAGTTCCTCCTACCCCTGCCTCTGTCGGAGACTAGAAAACATTCTACCCCTTCAGGTCTTCTTTTAAAAGAAAAGAGCTATGGCAAAGCGTGCCATACAAAGTTAAAAAAAGGAAGAGTGGCTTTGCGTTCTTGACCATGGCCACAATTCTGGTCACTTCTAGCATCTGACCTTGAGAACGGTGTAGAGTCTCTGAGCCACCGCTGGCCTTTGAGAGAGTCTCACTCTCCAGCTAGCTCTTTGTGTAGTGTCCAGGGCCCCGGCAGTCAGGATAGAGCGAGCAAAAGAAGATGGACAGTGGACAGGGCGCAGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGAGCGAGGCGGGCAGATCACAAGGTCAAGAGATCAAGACCATTCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAGATGGCCATGCTGGCCAAGGCTGGGCTCATAGGAAATATCTGTAGTAGGATGAAAGGAATCTGGCCTAGGGAGCCCCGGACTCGGTTTACCTACCCCGTACTCATCCCACTCATCTGTCTACCCTAGTGTCCATCATGCCCTGGATGAATCGTAGGTGGGAGGGACAGAAGCCGAGAACACCAGGCACACGGGGTGGGGGGAATGGGGGGAGCCCAGGTGATCCCCTTTGGAAAGTGGATTGATCCTCTCCCCTGTGGAATGACAGCTTAACCTGATTAACCCACTGGGGCTTGCTATTTTATGAGCATTTTTAAACAGAAAGGAAAGATGATATCCCAGTGCAGGTAGACTTTATTTTTGAAAGCATCGTGGCCCCTCACCTCTCCCTCTCCCCCAGAACCTTGGCCAGAATTGAGTCTTCGCGTTGGGGAGGCCACGCTGGAACCATTGCTCTAGGGCTGAAGGTGGAAGTAGGGCCACTGCCGCAGCTTCAGCCAGAGCCCTCGCTGCTTCGCAGAATTTAACAAGCACACGACTGGGATTCCTTTGGATATGAGAAAGGAAGGCAAGTGCGGGCAAAGGGAAGCTCCTCCCGTTTTTCATAAACAGAAGTAAGATGTCCTCTTTCCCAGGTTTGCACAATCACTTCTGGCAAATTAATTGAAGGTCCTTGAATTCAGCCAGTGCACGAAACCTTTGCATGTTCTTCTGAAACTGTACTTCTTCCCTATTCTGTCTACCCACACTCTGCGAACTTTGCCTTTTCCTTAAACACATTCCAGACCAAACACTGTTCAGTTTGTTAAAAAAAAAAAAAAAAAAAAAAGATGTATATACCTGTATGTGATCCACCACCCTTTTGAGGGGCACCTGGTCCTCGGTTGGGGCTGCAGGTGTGCCTGACATTTGCAAAAGATATTCCAGTCTTTCGATGTTCAGAATTGAAAATGTGGAGATAGAAAAGCTCAAACAGACTCCTAAAAGGAGGGTTTCTTTCCTGAAGACTCCAAGAAAATGAGTGTGCAGATGAGTTAGCTTGACAACCTCAACTCTGGGGAGCAGGCAGGCGGTCTGAGGAAGATAAGGGCCCACGCCCCACTCACCTGGCACCTGTTCGGTGGTCCCGGGGCATCATGGTCTGCAGCTCTGGGCCCCCAGCCCCACTGTGAAGTCAGTCCTGCATGCTGGCCGAGGCCCGGCCACCTCCCGATGCCTCCAGAGTCAGTGGGAAGGAGTCAGCCCTTCCCAGACTTCCCCGCCACCTCCAGCAGGAGCAGCTCAGTTTGTGGCTCTGGGAGCTCCGCTTTTGCAAACCCAAAAAGGCTGTGCATTTGGAAGCCAAACGCTCAGCATGCGGCTGCCGAGTCTGGTTTTGTGGACAAAGCAAACTGTGGAATGGCTTCTCGGTGTCTGTATAAAGGGACAAACGGTTGCATTCACCCTTTGTACTATAACACCGCTTCTGCATTCGCCATATCCGTTTTTTAACCTTTTTGTCTCCGGGGAACTTCTCATTCGATTATTATGTCTTCTGATGATTTGCCATGTTATTTTAAAGGTGATTTTATTTTCTTATGGACAGGAAAAAAGAAAATGAGGAGGAGTTGGTTTTACTCTTAGAGATAAGACTTCAGCAGGGGCTCAGAAACCCCAAACTCTAGTTAAATTGCTTCTCGGAGGAAAATCTTAATCTAGACAGATTCAGATTCCCAGGCTCTCCTGGAAGCCCTGCACTTCAGGGCACAGGGGCCCTGGGACGTGGTTGGCAGCCAGGCTGCGAGAGAGCTAAAAAGGAACAAGAACATCAGCTCGGATGTTTGTCTCTCAGCCCTGACACCTGCCACTCTCCTTCCCGGGGCACTTGGCCCTATCAGAGGGACATGAAATGCTGTCCGAATGGTGGCAGAAATGCAGCGACATTGCATGCAGCAGAGTCTTTGCTTCGAAAGATGGGGCGCCATGTTTCAGAGAACATTTATCTTAGTCCCACGTTCAGGTGAGAAGACCTCAAAGGTACCCTCTGTCCAGAATAAACATTGGAACAATCTCTCAATTGGCTTTTGTCACTACACATAATGTAATCTCCCTTCTTTCAGCTCCCCCAACAGTGAGCATGCTTCCCAAAAAATTACAACATCAAAACCAGGAATGTCCCCGCATCTACTATTACCAGGCTTGCAATTGGTTCAATTTTCCCATAAAAACATGTTTGTCCAAAAGAAGGGAAACTGTGAATTTATTCCATGCATGTAATAAACTCTGCAAGAAGTTTAACCCACATAGGTTTGCGGCACTGCAAAATTGTTCATGGGTCTATGTAGCAAATGATTCTCTGCCTTGACAATCATGTATACATATCAAGATTTCTATCATAATGATAATGAGATTGATGACTTCCTGTTTTCCTCCAATAAAGACAATTAATCACCTTCA)$ MGNTTSCCVSSSPKLRRNAHSRLESYRPDTDLSREDTGCNLQHISDRENID|agpfpkwf* 11BR058 ENSG00000120594.17 ENSG00000280809.4 +/+ +/- chr10:20245505 chr10:25699356 CDS/splice-site intron inversion/3'-3' 4 1 0 187 2 high out-of-frame . . . . ENSG00000120594.17 ENSG00000280809.4 ENST00000377252.5 . downstream downstream . ^(AGACTGCTGCAGCCCTAACCTTCCCAGGGCTCAGCTCTTTGGAGCTGCCCATTCCTCCGGCTGCGAGAAAGGACGCGCGCCCTGCGTCGGGCGAAGAAAAGAAGCAAAACTTGTCGGGAGGGTTTCGTCATCAACCTCCTTCCCGCAAACCTAAACCTCCTGCCGGGGCCATCCCTAGACAGAGGAAAGTTCCTGCAGAGCCGACCAGCCCTAGTGGATCTGGGGCAGGCAGCGGCGCTGGCTGTGGAATTAGATCTGTTTTGAACCCAGTGGAGCGCATCGCTGGGGCTCGGAAGTCACCGTCCGCGGGCACCGGGTTGGCGCTGCCCGAGTGGAACCGACAGTTTGCGAGCCTCGGCTGCAAGTGGCCTCTCCTCCCCGCGGTTGTTGTTCAGTGTCGGGTGAGGGCTGCGAGTGTGGCAAGTTGCAAAGAGAGCCTCAGAGGTCCGAAGAGCGCTGCGCTCCTACTCGCGTTCGCTTCTTCCTCTTCTCGGTTCCCTACTGTGAAATCGCAGCGACATTTACAAAGGCCTCCGGGTCCTACCGAGACCGATCCGCAGCGTTTGGCCCGGTCGTGCCTATTGCATCGGGAGCCCCCGAGCACCGGCGAAGGACTGGCGGGTGGGGTAGGGAGGTGGCGGCGGCGGCATGGCGAGGTTCCCGAAGGCCGACCTGGCCGCTGCAGGAGTTATGTTACTTTGCCACTTCTTCACGGACCAGTTTCAGTTCGCCGATGGGAAACCCGGAGACCAAATCCTTG___ATTGGCAGTATGGAGTTACTCAGGCCTTCCCTCACACAGAGGAGGAGGTGGAAGTTGATTCACACGCGTACAGCCACAGGTGGAAAAGAAACTTGGACTTTCTCAAGGCGGTAGACACGAACCGAGCAAGCGTCGGCCAAGACTCTCCTGAGCCCAGAAGCTTCACAGACCTGCTGCTGGATGATGGGCAGGACAATAACACTCAGATCGAG___GAGGATACAGACCACAATTACTATATATCTCGAATATATGGTCCATCTGATTCTGCCAGCCGGGATTTATGGGTGAACATAGACCAAATGGAAAAAGATAAAGTGAAGATTCATGGAATATTGTCCAATACTCATCGGCAAGCTGCA___AGAGTGAATCTGTCCTTCGATTTTCCATTTTATGGCCACTTCCTACGTGAAATCACTGTGGCAACCGGGG___GTTTCATATACACTGGAGAAGTCGTACATCGAATGCTAACAGCCACACAGTACATAGCACCTTTAATGGCAAATTTCGATCCCAGTGTATCCAGAAATTCAACTGTCAGATATTTTGATAATG___GCACAGCACTTGTGGTCCAGTGGGACCATGTACATCTCCAGGATAATTATAACCTGGGAAGCTTCACATTCCAGGCAACCCTGCTCATGGATGGACGAATCATCTTTGGATACAAAGAA___ATTCCTGTCTTGGTCACACAGATAAGTTCAACCAATCATCCAGTGAAAGTCGGACTGTCCGATGCATTTGTCGTTGTCCACAGGATCCAACAAATTCCCA___ATGTTCGAAGAAGAACAATTTATGAATACCACCGAGTAGAGCTACAAATGTCAAAAATTACCAACATTTCGGCTGTGGAGATGACCCCATTACCCA___CATGCCTCCAGTTTAACAGATGTGGCCCCTGTGTATCTTCTCAGATTGGCTTCAACTGCAGTTGGTGTAGTAAACTTCAAAG___ATGTTCCAGTGGATTTGATCGTCATCGGCAGGACTGGGTGGACAGTGGATGCCCTGAAGAG___TCAAAAGAGAAGATGTGTGAGAATACAGAACCAGTGGAAACTTCTTCTCGAACCACCACAACCGTAGGAGCGACAACCACCCAGTTCAGGGTCCTAACTACCACCAGAAGAGCAGTGACTTCTCAGTTTCCCACCAGCCTCCCTACAGAAG___ATGATACCAAGATAGCACTACATCTAAAAGATAATGGAG___CTTCTACAGATGACAGTGCAGCTGAGAAGAAAGGGGGAA)CCCTCCACGCTGGCCTCATCATTGGAATCCTCATCCTGGTCCTCATTGTAGCCACAGCCATTCTTGTGACAGTCTATATGTATCACCACCCAACATCAGCAGCCAGCATCTTCTTTATTGAG|GGGCAAGAGGATGGATGCTGTTTCAAATGAACTCGGTTAGTTTTTTTGTTCATGTTTCCTGTTTTTCCAGTAGTCTTATCAAGCCAAGACACTGCAACTTTTAAAG MARFPKADLAAAGVMLLCHFFTDQFQFADGKPGDQILDWQYGVTQAFPHTEEEVEVDSHAYSHRWKRNLDFLKAVDTNRASVGQDSPEPRSFTDLLLDDGQDNNTQIEEDTDHNYYISRIYGPSDSASRDLWVNIDQMEKDKVKIHGILSNTHRQAARVNLSFDFPFYGHFLREITVATGGFIYTGEVVHRMLTATQYIAPLMANFDPSVSRNSTVRYFDNGTALVVQWDHVHLQDNYNLGSFTFQATLLMDGRIIFGYKEIPVLVTQISSTNHPVKVGLSDAFVVVHRIQQIPNVRRRTIYEYHRVELQMSKITNISAVEMTPLPTCLQFNRCGPCVSSQIGFNCSWCSKLQRCSSGFDRHRQDWVDSGCPEESKEKMCENTEPVETSSRTTTTVGATTTQFRVLTTTRRAVTSQFPTSLPTEDDTKIALHLKDNGASTDDSAAEKKGGTLHAGLIIGILILVLIVATAILVTVYMYHHPTSAASIFFIE|gqedgccfk* 11BR058 ENSG00000130338.13 ENSG00000287512.1 +/+ +/+ chr6:158314268 chr4:98963934 CDS/splice-site exon/splice-site translocation 3 2 0 26 8 high out-of-frame . . . . ENSG00000130338.13 ENSG00000287512.1 ENST00000367097.8 ENST00000665661.1 downstream upstream . ^(AAACATTGCAGCGGCTCACACAGTGTTTGTTGCACTTTATTTTTCAGTGGGTTTGGTGATTTGGACGGATTAAAATTCTAGACTGAAAAGTAACTCCTACTGTGGTTATGGCTAGAGGAAAGCAAGTTCAAGTATGATGGGACAAGTTTGAATAATGAACTGATTCCTTTGCCTATCTTAATTAACTGTATTTGAGAAATTTTAATTTATTATTCCCCCCCTTTTTTCCTGCATCTATAGGATAATATTGTAAAATAGCAATTGAAACCAATAATTATTAAATAAATATCAAGGAAAATCCAAGCAAAGCTTTCTTTTTGTTGGACTAGTGGTGTGGTGTTTGGAGACAGTCTCTGAATGTGAACAGGAAAGCACCCATCAGCAAAACACTATCACTCTCTAGGGAGACAGCTGGGGGAATCTGACTCTGGCTTCTGCTTTTGTTTTAAGGGATTAACTTCCCTGTCAAGTCCAAGAAGACTTGCGTATGAGAAGATTACCTGATGGACTTAATTCTAAGATTAGCTTTTTTCATCAAGATGGAAAAAGATCTTTAGGAGCAGAAAAGGGGAGTGCTAACTGGGGGAGCGAGAAGGGAGACGAGCAAAAGAAACAAAATCTTGCCACGTGGCTCTGTTTTGTCAGCAAGAGGATTTAAGACTCACCCAGGGCAAACACTGGGACCACTGTAAGAGCGCTGGAACATTCTGCCTCTTGAGTGAAGGGGCCTTCTTTCTAGCCTCTATGGCACTGAGGGGTGCGCCGGCTGGTGGAGGAGCAGTCCGATGGAGCCCTGCGTTCCCCGGGGACACAGGGCCAAGCTTTGAGGTGGAAAGTTTCTGGTTCTGAAACAACAAGGAGAGAGTCTGTTTTTCTTCCTAAAATTTGGACTCTTGTCTGCACAAACTCTGGTCTGTTTTGCACGGTTTGTGTGCCTTTTTTTCCCTTTATGCAATCTTTTTCAGCTTTAGCAGCAGAAATTTGTCTAGTTCAGGAAACATGCTAGAGGGTGGCTTCAGAAGGAAGATGATCCTGTGTATTCTGTCTCTGCATCCGAACTTTTGAAGAGAAAAATTCGAGCTAGAGGGATTCTTAAAGCCTTAAGTTACTTGAAATCTATGTATTTGCAACCCTTTGTCTCTGGAATCATATTACACTAAACTGGAATCTCAGGCTGAATGAGAATAACCAAGTGGAGTAAAAAGAAGAAAACCGTTTCTTGATCACCACTTAATTAACGATGCTCTTTCTCCAAAGGATCAGCACGTTCTTCCTCTGAGAACTTGAAAATACAAATGGACCCCATGTTTTTTTAAGCATTACCTTTTCTTAGAAGACTGCCATCATCTTTTATAGAGGAATTTTTTCACTATGCATTCGGTGGATCTTTATAAAATACTGACCTTCTAATTAGATTCAGGTCAGTCTTAATTAAAGGGGGAAAAAAGCAACGCAAGCCAACCACAAAAACACATATACCAATGAAAGAAATTGGTTTAAATTTCACAGCATTAACATTACTTTTTAAGTAAAACAGTTCATTGAAGAAAGTATGTATGCAGCAGTGGAACATGGGCCTGTGCTTTGCAGCGATTCCAACATCCTGTGCCTGTCCTGGAAGGGGCGTGTCCCCAAGAGTGAGAAGGAGAAG)CCTGTGTGCAGGAGACGCTACTATGAGGAAGGCTGGCTGGCCACGGGCAACGGGCGAGGAGTGGTTGGGGTGACTTTCACCTCTAGTCACTGTCGCAGGGACAGGAGTACTCCACAGAGGATAAATTTCAACCTCCGGGGCCACAATAGCGAG|AATTGAATCCAAGAGGAAGAGAAGCATCCTTCCTTCAGTGCCTTTGTGGTGGTGCTTGGTGAGAGATAGTGGTGAAGGCATTGCCTAAAGAGAGAGGCACTAACAGGCAGAGGAGTGGTTGAGACCAGTAAGAACTGCCCTGCCTGGTGGAGCAGAGGCAGAAGCTGATGCCCAGGCTCTGCAGCATCTATA(GGGAACTTGGTGCCTGCAGTGCTCATCAAATGATCCAGAGGCCTCCTTGAACACTGCAAAACCCAGAAGAAATTACCATGCCAACGGAGCAGAACCAGATCCTTTGGGGAAACACAGCGCTGGTGGAAGAACTATAGCTCCAGTAAGCAAATGTGGTGCCTGGTGGGTGGTTGCTGAATCAGTGTGTGTTTGTGAGCATATGTGAGACACCCACTGAAGATGCCTAAAAACACCTCTAGAAACTGACATTTTAAAAGGAGACTGAAGTCCTGCATTATGCAGGTGCTGTGAGCCTGTGACTATTGGGTTATTCCACTTAATGTGACTTACTTGTATCTACAAGCTAGTGGAAGCTGGGTGCCATAGTTCAGATATTTTTCCCCCAAAACCTCATGTTGAAATTTGATCCCCAGTGTTGGAGATGGGGCCTAATGGAAAATATCTGAGTCATGGAGGTGGATGCTTTATGAATGGATTAACCTCCTCACTGTGGGGGTGGTGAGTTCTTACTCTCTTAGTTCCCATGAAAGCTGGTTGTTAAAAAGAGCCTTGCAGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCT)$ MYAAVEHGPVLCSDSNILCLSWKGRVPKSEKEKPVCRRRYYEEGWLATGNGRGVVGVTFTSSHCRRDRSTPQRINFNLRGHNSE|n* 11BR058 ENSG00000164188.8 ENSG00000248587.8 -/- +/+ chr5:36269390 chr5:37861261 CDS/splice-site exon/splice-site inversion 1 3 0 21 7 high out-of-frame . . . . ENSG00000164188.8 ENSG00000248587.8 ENST00000296604.7 ENST00000637595.1 upstream upstream . ^(ACAGAGGGTAACTCAGATCAGGCTTAGAAATCACTTGACTTAACTCAGCAGCACTTTTTCTTTTCTTTGTGTCTGTATTATTTTAGCAGCCTTCTCTAAATACTGGAGGCATTGGATTTCATGTCGCCAAAAGGAATTTAAAAATGACAAAAGTGTAATCTGTTAGAAATAGTTAATTTGTAGAATTTTACTCTATAAGGAGGTTTAGTTTCAATTTGTTTTGAAATGAAGGAATTAAGTTGTGTTTTTAACCAAATGAATTGGCATCTTTATATTTAGGAGAAGTAACATTGGTGATTATTTATTTCAAGAATCATGACTGGAAAAAGCTTGGAAGTTTAGTAGAGGAGTATATGTTGTACATGCAAAGACAAGATCTGCATGAATCTATGTATTTCTGGGTGTCTGGTGAAGGCCACTTTAGGTGACTGGCCAGAGAAGGAGGTGCCCTAGTGATCCTTGAGTCACAGCCATACTGCTAGGACCATGACTACCATACCAAGAAAAGGCAGCAGCCACCTGCCTGGCAGTTTGCACACCTGTAAACTGAAGCTGCAGGAGGACCGGCGACAGCAAG___AAAAATCTGTCATTGCTCAACCCATATTTGTTTTTGAAAAGGGAGAACAAACTTTTAAG___AGACCTGCAGAAGACACCCTGTATGAAGCAGCAGAACCAG___AATGTAAT)GGTTTTCCAAgAAAGCGTGTACGGTCTTCATCTTTTACTTTTCATATTACAGATTCTCAGTCCCAGGGAG|ATGAGGACATTGAGGATCAGAGATGTTGAAAAACTTGCCCAAGGATGCACAAGTGGAATG___GTGACTGTTGTCTCTTGGGCACAGGTAGCTGCCAACAGGTGAGCCTCTCAGCGGATCCCTGATAGAGGTAGGATGG(CAAATAGCTTCTTTAATATGACAGCCTCAGTGTAGTGGCTGGCAAGGAGCTGCGATTGGGAGGAACTGGAAGTGACACCCAAGCTCATTGAGCAAGCATGCTGTGAGTGCCATGA___TAAAGTGAAGAGCTCAGGAGAAAGATTGGATCAATTATAGAAAATAATGAAGGTACATTTTCTTTGCATAACTAAATGTAGG___TACTGGAATACCTGAGTTTTGGCTGGGCACAGAACTGTCTGGAATACAGACTGCAATTCCCAGCCTTCTGTGCAGTTCTGTGTGGCCATGTGACTAAGTTGTGGTCAATATGAG___TCACGGAAGAATAGAAGAACAACTCAGAGGAGGAAGAAGTCAGACATAGCCAGACACGGCTGCTAGCAGTTCCACCAATGAAAGAGGAGACCAGGATGTTTAAAACAGGCAAACACAAGGTGCGAAAAACCAGAAGCGAAAACTTCTGAGGTCATTTAAG___CAAGGACTATCGTTATCCCCGGAAGCAGAGAGAAGTTCCCTTTGCCCAACATCACACTGCAAGCACGTGTTGGAGCTGAGATTCAAACCCAGGCATCCAGGGTCCAGGGCCCATGCTTTTAATATATTCCATATCTTAGGAGAATTTCCCCTATTTAAACAATAAAAGTGCAAAAATCTTGTGGCTAGCCAAAA)$ MTTIPRKGSSHLPGSLHTCKLKLQEDRRQQEKSVIAQPIFVFEKGEQTFKRPAEDTLYEAAEPECNGFPrKRVRSSSFTFHITDSQSQG|dediedqrc* 11BR058 ENSG00000130338.13 ENSG00000164024.12 +/+ +/+ chr6:158314268 chr4:99028867 CDS/splice-site CDS/splice-site translocation 2 1 0 26 80 high in-frame . |Metallopeptidase_family_M24(100%),zf-MYND-like_zinc_finger__mRNA-binding(100%) . . ENSG00000130338.13 ENSG00000164024.12 ENST00000367097.8 ENST00000296411.11 downstream upstream . ^(AAACATTGCAGCGGCTCACACAGTGTTTGTTGCACTTTATTTTTCAGTGGGTTTGGTGATTTGGACGGATTAAAATTCTAGACTGAAAAGTAACTCCTACTGTGGTTATGGCTAGAGGAAAGCAAGTTCAAGTATGATGGGACAAGTTTGAATAATGAACTGATTCCTTTGCCTATCTTAATTAACTGTATTTGAGAAATTTTAATTTATTATTCCCCCCCTTTTTTCCTGCATCTATAGGATAATATTGTAAAATAGCAATTGAAACCAATAATTATTAAATAAATATCAAGGAAAATCCAAGCAAAGCTTTCTTTTTGTTGGACTAGTGGTGTGGTGTTTGGAGACAGTCTCTGAATGTGAACAGGAAAGCACCCATCAGCAAAACACTATCACTCTCTAGGGAGACAGCTGGGGGAATCTGACTCTGGCTTCTGCTTTTGTTTTAAGGGATTAACTTCCCTGTCAAGTCCAAGAAGACTTGCGTATGAGAAGATTACCTGATGGACTTAATTCTAAGATTAGCTTTTTTCATCAAGATGGAAAAAGATCTTTAGGAGCAGAAAAGGGGAGTGCTAACTGGGGGAGCGAGAAGGGAGACGAGCAAAAGAAACAAAATCTTGCCACGTGGCTCTGTTTTGTCAGCAAGAGGATTTAAGACTCACCCAGGGCAAACACTGGGACCACTGTAAGAGCGCTGGAACATTCTGCCTCTTGAGTGAAGGGGCCTTCTTTCTAGCCTCTATGGCACTGAGGGGTGCGCCGGCTGGTGGAGGAGCAGTCCGATGGAGCCCTGCGTTCCCCGGGGACACAGGGCCAAGCTTTGAGGTGGAAAGTTTCTGGTTCTGAAACAACAAGGAGAGAGTCTGTTTTTCTTCCTAAAATTTGGACTCTTGTCTGCACAAACTCTGGTCTGTTTTGCACGGTTTGTGTGCCTTTTTTTCCCTTTATGCAATCTTTTTCAGCTTTAGCAGCAGAAATTTGTCTAGTTCAGGAAACATGCTAGAGGGTGGCTTCAGAAGGAAGATGATCCTGTGTATTCTGTCTCTGCATCCGAACTTTTGAAGAGAAAAATTCGAGCTAGAGGGATTCTTAAAGCCTTAAGTTACTTGAAATCTATGTATTTGCAACCCTTTGTCTCTGGAATCATATTACACTAAACTGGAATCTCAGGCTGAATGAGAATAACCAAGTGGAGTAAAAAGAAGAAAACCGTTTCTTGATCACCACTTAATTAACGATGCTCTTTCTCCAAAGGATCAGCACGTTCTTCCTCTGAGAACTTGAAAATACAAATGGACCCCATGTTTTTTTAAGCATTACCTTTTCTTAGAAGACTGCCATCATCTTTTATAGAGGAATTTTTTCACTATGCATTCGGTGGATCTTTATAAAATACTGACCTTCTAATTAGATTCAGGTCAGTCTTAATTAAAGGGGGAAAAAAGCAACGCAAGCCAACCACAAAAACACATATACCAATGAAAGAAATTGGTTTAAATTTCACAGCATTAACATTACTTTTTAAGTAAAACAGTTCATTGAAGAAAGTATGTATGCAGCAGTGGAACATGGGCCTGTGCTTTGCAGCGATTCCAACATCCTGTGCCTGT)CCTGGAAGGGGCGTGTCCCCAAGAGTGAGAAGGAGAAGCCTGTGTGCAGGAGACGCTACTATGAGGAAGGCTGGCTGGCCACGGGCAACGGGCGAGGAGTGGTTGGGGTGACTTTCACCTCTAGTCACTGTCGCAGGGACAGGAGTACTCCACAGAGGATAAATTTCAACCTCCGGGGCCACAATAGCGAG|GAATGTTTTAAAGGAAGTTGGGCTACTCACAAGTTACTACATAAGAAAGCAA___AAGATGAAAAGGCGAAG(CGAGAAGTGTCTTCCTGGACTGTGGAAGGTGATATTAATACTGACCCATGGGCAGGTTATCGATATACTGGTAAACTCAGACCACATTATCCACTG___ATGCCAACAAGGCCAGTGCCAAGTTATATTCAAAGACCAGATTATGCTGATCATCCCTTAG___GAATGTCTGAATCTGAACAGGCTCTTAAAGGTACTTCTCAGATTAAATTACTCTCATCTGAAGATATAGAAGGGATGCGACTTGTATGTAGG___CTTGCTAGAGAAGTTTTGGATGTTGCTGCCGGCATGATTAAACCAGGTGTAACTACTGAAGAAATAGATCACGCTGTACACTTA___GCATGTATTGCAAGAAATTGCTACCCTTCTCCCCTGAATTATTATAATTTCCCAAAGTCTTGTTGTACCTCAGTGAATGAAGTCATTTGCCATGGAATACCAGACAGAAGGCCCTTACAAGAAGGTGACATTGTTAATG___TGGATATCACTCTTTATCGCAATGGTTATCATGGGGACCTGAATGAGACATTTTTTGTTGGAGAAGTGGATGATGGAGCACGGAAACTTGTTCAGACCACATATGAGTGCCTGATGCAAGCCATTGATGCAG___TGAAGCCTGGTGTTCGGTACAGAGAATTGGGAAACATTATCCAGAAGCATGCCCAAGCAAATGGGTTTTCAGTTGTTCGAAGCTATTGTGGGCATGGAATCCACAAGCTTTTTCATACAGCTCCCAATGTACCCCACTATGCTA___AAAATAAAGCAGTTGGAGTGATGAAGTCGGGCCATGTATTTACAATTGAGCCAATGATTTGTGAAG___GCGGATGGCAGGATGAAACCTGGCCAGATGGTTGGACTGCGGTGACAAGAGACGGAAAGCGGTCTGCTCAGTTTGAGCACACCCTCCTGGTCACAGACACTGGCTGTGAAATCCTAACCCGGCGACTTGACAGTGCACGGCCTCACTTCATGTCTCAATTTTAATTTCTCCCAAGATGGCACATCTCAGTACCTTCTTACTGTGCTATGCATTTTATTGAGAGTACAGAAAGGAAGAGGAACCTTTTTTTAATCACTTGTTTTGTTTTGACTATAGATAAGAAAGGACTACAGCATTTGATGTGTGTCCTCAAGAACTTGTCTTGGGTCTGAAAAAGCTGAGAAGAATAAAGGAAACATTGCTCAACTCTTCAGCCCCCTCCCCCTGCACACCTGTTTTCTCATTTGCCCTTTGAGCACTTTTACTTAAACTTGCTTGTAGTTGCTTTTATCACTGCCGCAAAACAGCCATCAAGAGCCATCTGCTTTCCAGGTGAACATTGGAAATGAGAATCTTTGAAACTTAGCAATATGTGTTGCACCAGATTTTTTAAATTATATATATGGAAATATATATGTATACATTTTAAGTTCTGTATACATAATTACCAAACACTATGTGACCTGGAGTTTGTGTTGTTTCTGCTCTGACAGGTTTATATGTTCTTACAAATGGATCCATAGTTTGCAGTGATTTAATTCCTGGTTGGGATTTGGCCTCCCCTCTCCCCCATGCTAATTATTTACCCTTGTAATTGTGCATAGGGAAGCACTCACCCAATGAGACTTTCTCCAATGTGGACTCTGTGTGTCAGTGAATGAATGTAGTAAAATTCACTTTGGAAGGTTATCAGGCTTTTAAAAATCTAGTTTATGGCAAAAATAGCCATTTTCCAAGTGGTGGCTGACTGTTGCAGGGAATGAGAATTTCATAATACACTGCTATTTCAGACCTCTGTTTGGTCAGAAATGGAAAAGAAAAAGCCCCCTTTCTTCCCTTTTCTGTTTTACTTCAAGGGCATACCTTGGAGGTGCTCAGAGAAGCGTGAAGTTTGCACTATGGTGGAGGATGGGGAAAGAGTTCTAAAGTGTCTCCAGCTGTGAACCCAGGAGGTCAAGTGGGCTATTAAAATCTAACGTTGAGTAAATGTGATAGTGATGAGAAAGGAATTTTGTGTACTGTAACCTTGCAGTAGAGATGCAGCTGTCCTTCGTGTGTGGAAACACACCTCTCCTTTACATAGTTGGGAACCTCATTAGAAATGACCTCAGCTGCCCCATATCTACGTTCCTTTCAGCAGTTGTCCAAGTAGGAGTGTATCCAGTGAAGACATATCAAATCACAAAGTCATTGTCATTAGAGTGTACTTGATTACTGGGCATCCTTGTAATATAATTTCATACCACTGACACATTATACTTGTAAGAGAACATCTTTCCCAGAGTGCCTCAGACCTTATTGCTTTAAAATATAATAATGTTTTCATTACTTTTATTATTTGAATGATTTAGTAAAGTTGACTGAATCTGGTATAGACTTTGGGAGTATGTGTGTGAAGTTTTTATCAAACTGTAATATTTGTGAATGGAATGCCTTGCAATATGAATGTTAATATAATGTGTAAAGGGAGATTAAAAAGTTTGAATGATTATCCTA)$ MYAAVEHGPVLCSDSNILCLSWKGRVPKSEKEKPVCRRRYYEEGWLATGNGRGVVGVTFTSSHCRRDRSTPQRINFNLRGHNSE|ECFKGSWATHKLLHKKAKDEKAKREVSSWTVEGDINTDPWAGYRYTGKLRPHYPLMPTRPVPSYIQRPDYADHPLGMSESEQALKGTSQIKLLSSEDIEGMRLVCRLAREVLDVAAGMIKPGVTTEEIDHAVHLACIARNCYPSPLNYYNFPKSCCTSVNEVICHGIPDRRPLQEGDIVNVDITLYRNGYHGDLNETFFVGEVDDGARKLVQTTYECLMQAIDAVKPGVRYRELGNIIQKHAQANGFSVVRSYCGHGIHKLFHTAPNVPHYAKNKAVGVMKSGHVFTIEPMICEGGWQDETWPDGWTAVTRDGKRSAQFEHTLLVTDTGCEILTRRLDSARPHFMSQF* 11BR058 ENSG00000205765.9 ENSG00000271771.1(4145),ENSG00000215158.9(1786) +/+ ./+ chr5:41912183 chr5:34162912 CDS/splice-site intergenic duplication 0 2 1 27 18 high out-of-frame . . . . ENSG00000205765.9 . ENST00000381647.7 . downstream upstream . ^(GGGGCGCACCCGCCGATTGTGGCCATGGCGGCCGCAGTCTCTAGTGTGGTGAGACGAGTGGAAGAGCTCGGGGATCTGGCTCAGGCCCACATACAGCAACTTAGCGAAGCTGCCGGTGAAGATG___ATCACTTTTTAATTCGGGCCTCTGCAGCATTAGAAAAATTGAAACTCCTGTGTGGAGAAGAGAAAGAATGTTCAAATCCATCAAATCTTCTAGAACTTTACACACAG___GCTATTTTGGACATGACATATTTTGAGGAGAACAAGCTAGTAGATGAAGATTTTCCTGAAGACTCTTCTTCACAGAAAGTAAAAGAGCTGATTAGTTTTCTTTCAGAACCAGAAATTTTAGTAAAGGAAAATAATATGCATCCAAAA___CACTGCAATTTGCTTGGGGATGAGCTACTGGAATGTCTCTCTTGGAGACGAGGAGCCCTGCTGTATATGTATTGTCATTCTCTTACCAAAAGAAGAG)AGTGGCTCTTAAGAAAATCCAGTTTGCTTAAAAAG___TACCTTCTTGATGGAATCAGTTACTTGCTACAGATGCTAAATTATCGATGTCCTATCCAGTTAAATGAAGGAGTTTCTTTCCAAGATCTAGACACAGCTAAATTACTGAGTGCAG|CTGAAATTTCAATGCTACAGAGAAGAGAGAACAAGATAAACATGTTTCTTCATCTTAATGTACCTCTGTATAAGTTCTTGCATTCAATTACACATAATCAATGTACAGAATGTTCCTCATACAATGGGCATTCCACCTTGTATGTGCACACACGG MAAAVSSVVRRVEELGDLAQAHIQQLSEAAGEDDHFLIRASAALEKLKLLCGEEKECSNPSNLLELYTQAILDMTYFEENKLVDEDFPEDSSSQKVKELISFLSEPEILVKENNMHPKHCNLLGDELLECLSWRRGALLYMYCHSLTKRREWLLRKSSLLKKYLLDGISYLLQMLNYRCPIQLNEGVSFQDLDTAKLLSA|aeismlqrrenkinmflhlnvplykflhsithnqctecssynghstlyvht 11BR058 ENSG00000286271.2 ENSG00000113494.17 +/+ -/- chr5:42813919 chr5:35118122 exon/splice-site 5'UTR/splice-site inversion 1 2 0 20 57 high . . |Erythropoietin_receptor__ligand_binding(100%) . . ENSG00000286271.2 ENSG00000113494.17 ENST00000651306.1 ENST00000618457.5 downstream downstream duplicates(1) ^(AGAGCAGCGCATAGCAGGCCCCTGCAGAGGATTAACA)CGGTGGCTGAACACCGGAAAGAACTGGCACTTGGAGTCGCGACATCTGAAACTTG|CTAAAGAACTCTCCTATTCATGGAGGCGAACACTGAGGATGCTTTCCACATGAACCCTGAAG___TGAACTTCTGATACATTTCCT(GCAGCAAGAGAAGGCAGCCAACATGAAGGAAAATGTGGCATCTGCAACCGTTTTCACTCTGCTACTTTTTCTCAACACCTGCCTTCTGAATG___GACAGTTACCTCCTGGAAAACCTGAGATCTTTAAATGTCGTTCTCCCAATAAGGAAACATTCACCTGCTGGTGGAGGCCTGGGACAGATGGAGGACTTCCTACCAATTATTCACTGACTTACCACAGGGAAGG___AGAGACACTCATGCATGAATGTCCAGACTACATAACCGGTGGCCCCAACTCCTGCCACTTTGGCAAGCAGTACACCTCCATGTGGAGGACATACATCATGATGGTCAATGCCACTAACCAGATGGGAAGCAGTTTCTCGGATGAACTTTATGTGGACGTGACTTACATAG___TTCAGCCAGACCCTCCTTTGGAGCTGGCTGTGGAAGTAAAACAGCCAGAAGACAGAAAACCCTACCTGTGGATTAAATGGTCTCCACCTACCCTGATTGACTTAAAAACTGGTTGGTTCACGCTCCTGTATGAAATTCGATTAAAACCCGAGAAAGCAGCTGAGTGGGAG___ATCCATTTTGCTGGGCAGCAAACAGAGTTTAAGATTCTCAGCCTACATCCAGGACAGAAATACCTTGTCCAGGTTCGCTGCAAACCAGACCATGGATACTGGAGTGCATGGAGTCCAGCGACCTTCATTCAGATACCTAGTG___ACTTCACCATGAATGATACAACCGTGTGGATCTCTGTGGCTGTCCTTTCTGCTGTCATCTGTTTGATTATTGTCTGGGCAGTGGCTTTGAAGGGCTATAG___CATGGTGACCTGCATCTTTCCGCCAGTTCCTGGGCCAAAAATAAAAGGATTTGATGCTCATCTGTTGGAG___AAGGGCAAGTCTGAAGAACTACTGAGTGCCTTGGGATGCCAAGACTTTCCTCCCACTTCTGACTATGAGGACTTGCTGGTGGAGTATTTAGAAGTAGATGATAGTGAGGACCAGCATCTAATGTCAGTCCATTCAAAAGAACACCCAAGTCAAGGTATGAAACCCACATACCTGGATCCTGACACTGACTCAGGCCGGGGGAGCTGTGACAGCCCTTCCCTTTTGTCTGAAAAGTGTGAGGAACCCCAGGCCAATCCCTCCACATTCTATGATCCTGAGGTCATTGAGAAGCCAGAGAATCCTGAAACAACCCACACCTGGGACCCCCAGTGCATAAGCATGGAAGGCAAAATCCCCTATTTTCATGCTGGTGGATCCAAATGTTCAACATGGCCCTTACCACAGCCCAGCCAGCACAACCCCAGATCCTCTTACCACAATATTACTGATGTGTGTGAGCTGGCTGTGGGCCCTGCAGGTGCACCGGCCACTCTGTTGAATGAAGCAGGTAAAGATGCTTTAAAATCCTCTCAAACCATTAAGTCTAGAGAAGAGGGAAAGGCAACCCAGCAGAGGGAGGTAGAAAGCTTCCATTCTGAGACTGACCAGGATACGCCCTGGCTGCTGCCCCAGGAGAAAACCCCCTTTGGCTCCGCTAAACCCTTGGATTATGTGGAGATTCACAAGGTCAACAAAGATGGTGCATTATCATTGCTACCAAAACAGAGAGAGAACAGCGGCAAGCCCAAGAAGCCCGGGACTCCTGAGAACAATAAGGAGTATGCCAAGGTGTCCGGGGTCATGGATAACAACATCCTGGTGTTGGTGCCAGATCCACATGCTAAAAACGTGGCTTGCTTTGAAGAATCAGCCAAAGAGGCCCCACCATCACTTGAACAGAATCAAGCTGAGAAAGCCCTGGCCAACTTCACTGCAACATCAAGCAAGTGCAGGCTCCAGCTGGGTGGTTTGGATTACCTGGATCCCGCATGTTTTACACACTCCTTTCACTGATAGCTTGACTAATGGAATGATTGGTTAAAATGTGATTTTTCTTCAGGTAACACTACAGAGTACGTGAAATGCTCAAGAATGTAGTCAGACTGACACTACTAAAGCTCCCAGCTCCTTTCATGCTCCATTTTTAACCACTTGCCTCTTTCTCCAGCAGCTGATTCCAGAACAAATCATTATGTTTCCTAACTGTGATTTGTAGATTTACTTTTTGCTGTTAGTTATAAAACTATGTGTTCAATGAAATAAAAGCACACTGCTTAGTATTCTTGAGGGACAATGCCAATAGGTATATCCTCTGGAAAAGGCTTTCATGATTTGGCATGGGACAGACGGAAATGAAATTGTCAAAATTGTTTACCATAGAAAGATGACAAAAGAAAATTTTCCACATAGGAAAATGCCATGAAAATTGCTTTTGAAAAACAACTGCATAACCTTTACACTCCTCGTCCATTTTATTAGGATTACCCAAATATAACCATTTAAAGAAAGAATGCATTCCAGAACAAATTGTTTACATAAGTTCCTATACCTTACTGACACATTGCTGATATGCAAGTAAGAAATAATGCCTCCAATTTTTTCTTAAAATAGTTTAGATATGTTAAGCATGGATTTTCCCCCTAAATTCTACTCTAAAGCTTCTATAAAATATAGTTTGGAAATAAAAATGTTCTTACACAAGGGGCAAATGAATTTCATGTGAATCCCTTTAGGATGTTTTCCTCCTTCATTTCAGCATGATAGATAATTTATTATACACCTTAGTCTTTCCTTAGTTAAAAAAAAATTCCCTAAAGACTAACTTGAAAAGAAAACCACAGCAGGATGCTAATGGAATTACTGCCTTACTGTACATACAAATTCTACTTTAATATAAACCCATAAGTTTAACTGTATTTTTGAAGACTATTTTTCTATGACTTAGGTAAAATAAAAGACTATTTTCTATTTTCCCAGTACAGCTGTTTATGTATTCAGTGGGTACAGTATTTTCTGCTGCAAGGTTATAATGTGTATTTACAGTACATAGTAGTATATAAAGTTCCCGTTTGTGGAGTAAAATGCCATACCAACCCAAAGCCCACTGTGAAATATGAAGTGAATGACAAAATTCAGTTTTCAACGCAATATAGTATAGTTTATCTGATTCTTTTGATCTCCAGGACACTTTAAACAACTGCTACCACCACCACCAACCTAGGGATTTAGGATTCTCCACAGACCAGAAATTATTTCTCCTTTGAGTTTCAGGCTCCTCTGGGACTCCTGTTCATCAATGGGTGAATCTTCCTAAAGCTACCATAAAAAGGGAGGGCGACGATTTCTAACAGCTGTTTAAAAGAGAGAGGTTTTGCTTTTGTGAGAAATCTTGGGCCACAAAAAAATTTTAAGCAAAGCCAGGAGTTAGTGTCTCTCTGAAGTAAATTCAATTGCAAAATCTTGGCAGAGGCAGAAATGGCTCATATCAGAAGTGTCCAAATAAAAGTTCTGGGAAACTAGGTATTTGCTTCCCAGAGCAATGGGAATAGCTCCAAAGGTCAGAGTAAGGTAATGAGAATCTCCCGGTCAATTCCAGTGCCAGGCTTCCTGAAAGAAGTCAAAGCTTGGATCCTCATTTTAAAGGGCGCATCCATGACTCATCTAGCAGCCCCTCTCTATTTTTCCCTTCACTTGATGGTAAATCCATTCTATATGTCCATTTACTAGCTGGACATAGAGAACTTGAGCTCACCTCTGGGAGTTAAATATTCCACCCCAACTATCCCATATTGATAGCAACTGGACTCAGAGGTCCCCCTCCTGTTTGAAAGTGAACACATTGCCAATGTTTTGAGAATGGCAAAAGCAATAGATACGAAGCTCCATTTTTCTAATATATAAACAATATCATGTGAGTAAGGGAAGCGTGTGGGAAAGTTGTCCAAGCTCATTCAGTCCCCTAAATCCTCGATACTTTAACTGTCTGAGAACCAACTGCATAGGCATCACCTGGGCAGTGTTTGAAAATTCCATTTGCAGAATCTTAAGCATCAGAATCTGCATTTTACTAAGATCCCCAAATGATTCAATTGCACACTGAAGTTTGAGAAGCATTGTTCTAGACAACCATTTCCACTAAAGGTTATTTTAGTTCATAGTAACAATCCTCTTTTGGAAAGGACAGATCAAGTCTGTTTGACTTGCAATGAACAACACTGCATGTAAGCAGGCAAAAAAAGAAACATATCAGTAGTTTAAGATTCACATTATGCTGAATCTTATATGAATTCACATAAAAGAATGACCTGCAAAACTACGCACAACTTCTGAAAGGCCAAGGAATATAATCTACCTTGAGAGACATTAACCAAAGACAGTCACCCTCAAAGCCAATGCAGACTAAATCTTTCCTAACATAGTCTATTCTCTAAGAATAGAGAAGATATGTATCAGTCACTCTTATAGTCTGAAAACCTAAACATAAAAGTAATCTGCTTTTGACATATAATTTTGTATAATACGTATGAAAAAATGTGACAGCTAAGGACTTGAATTAAATCCCTAAAAAACAATTAGCCACTCATTAGGCCAAGACTTTAATTCTATGATCAATTAGCACTGTTTATCTGAATTAAGCTTTTTTGTGGTCTAACAAAAAGTTTTTTTGTGGTCTATCAAGGAGACAGCTGTTCAAATGGAAGGATACATGTGGGGCAGGGGGGCGGTGAAGAGACCTAGATTCTGGTCCTAACTGCTTTGCCTTGGAGAGATTAATTCCCCCCTCTAAGCCTCAGTTTCCTCTGAAGATGTTGGACCAGATAACCTCTAAGGTCCTTTGAAACTGACTCCTTGATTCCATGACTCACTGAATATTTTTCTGCAAAGATAATCCCAACCAATGCCTTCTATCCTAATCTAACAAAAAATTGCTCTTCATCATAGAAATACAAAGTAATCTTCAGTGATGTGCTCTTTATACTTTGCTTTTTAAACCGTCCATTCCAGTTGGTCTTAATATATTGCACAAGTATTTTATAAGTGAAATGTGTACAGAATCATATTCTAAGATTATGTGCAAATATATGTGTAGAAAGAGGCATTTAAAAAAAGAGGCAGGAGATTGAGAAGAGACATATTGAATGAGGCACTAATCTTTAGAAAAATGATCTTTTACTGAATCAAGCCATGCTCATTCCTTGCTGAATCCAACAGCCCCAAATCTCTTTTCTTATATTTGGCTGTTAATTTTTTTCCTTGCACCATCCTAGATTGTTAACAACCATTGCACAGTTGGCTCATGTATCCTTACACTCTGAGTTATAATAAGTTGTATTTTTATAAACAAATACCTAAATATTCAAGTTTTAAGGCGCATGGAAACTGAATCTAGGCAACGGGTGATTTGTGTAGCTTACAACCTGAACAGCAAGATGTTCCAATTCATTCTAACAGATGTGTATAAGCACAAGTTATATCAGCTGTGTCAGATATTTAACAGATCCTACATTTATTAGCTATATAACAGACTCTACATTTTCCTAAGTGCCTAAGACCAATCCTGGTAGTCACTTAAGTACAAAAGACTCACTTTAACTGGCTTGGTCTGAAGGGGTCAATCCTTTACTGCCTGTACAAGATCTGGGCAGTTTTGCTCTGTGTCTTGTGATGACCCAGCTGAATGTGAAAAGCCTATGAGTTATTGAGCAACCAGAGGTCCCTGCATTCCAAGTTGCAGTTTAGCTCTGGGGAAACTCTGGCTTTCTCTTTCCTCAAGTGTCCACCACTGCCCATCATTTGCAGAAAGACTTGGCCCTGCCTTTAGCAACTTCCCTATCTCCTTAGAGTAGACAAGAAAGAAACAGATTTGTGCACATTTTACAAAGTGCCTTCCTCTATTTTTTTTTAAAGTTTTCATTTTGCAAGGAAAAATGTATTGATTAGAAAGTAACATTTGCCTTATAGGGATTATATATATATATAGATATAGATATAGATATGTATGAATGGAGAGATGAGAAGAAGCCAGAAAGGGCACAACAAAATGGTCTAAGGGCCAACCAGCAATGTTCAGTGAATGTTTACGTATTGTTTAATTGAATCAACACAGAGCTGTTGTGAATAGTGTGACTTACTTTGCCTGATAAGAAATTGAGGCTGGCTGTGATTTGGGGATAAACCTGCCACCCTGTGATTTGAGACTCTCCATACCAAAACTTATTGATACATTTTTGAATGTCATTGGCTTACATGCCTAAACCTGAAGAGAACAATGCATGCACATTGGAACTTTGTACACAAACAGAAAAATATAAATGACTTTGAATTACCATCCCAAGCATTGCTAACGTAGATGTGCCATTGACGAAAGTCTCATGTGTTCTTGAGTGAACAAATTTCCTTTTCTTCCTTTTTGGCTCAAGCACAATAATGCTGTCACTGAGACAGTGACTGAGCACTCAATGTCCAAGACTAAATCACATCACCACGACTAAGTAGGCACTATGTCCTGGGATGAGTCTTTTAAACTCTGGCCATCAGGTTCCTTACTTGTTAAATAAGTAGGTTGGCCTAAAAGGTTTCTAAGACCTCTCATGATCTAGGTAAAATCCAGGGTTTCAGGTCAGTGTCCCTGGTGCAGTGCAAGAAAGCCTTGCTGACACACCCTTGGCCTGAAGCAGTGAGCACATGAGATTGTGTGACAACGCTTCAGAGAAAAACAGAGATCTGTTCCTCCAACTCAGATTGATTTAACATCCTTGCTTCTCCTTTTCCTTCCTGGCTTTACATATTTGTAGGGTTTTTACTCCTTCTCCAGAGCCTACTATTTTCCTAAGAGTTAGTAGCAACCATAGGATCCACAAGAAATGAAATTATTCATCAACAATGACTTTGGCACTGCAAAAGACTGAGTCAAAGGTTAAATCAGTCACACAGATATCCAAGGCCAAGTTGAAGATCACAAGTATATCCCATTTAGAGATTTGCATACTTAGAGATTAAGCCCATGTTCATTAATTATTTAGTTAATTCAAAAGCCATTAATAAATCCATGCCCAGCCTACGCAACATAGTAAGACCCAGTCTCTACAAAAATTTTAAAAATTAGCCAGCCATGGTGACACGTACCTGTAGTCCTAGACACTTGGGAAGGTGAAGCCAGAGGATTGCTTGAGCCCAGGAGGTCGAGGCTGCAGTGAACCGTGATTGTGTCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACCTTGTCTCAATAAATAAACCCAAGTTACTTCGATGACTAGATACTGGAGGTCTGAAGGAGAAGCTTTAAAAATACAGATTGATTGCTTCAGAGAAATCCTATTTATAATTATGATCTGAACTTATTCTATGATTAGCAAATATATCATCTGAAAATAAAACAGGAGTTCTCTCCCCAGACTTTTGTTTTTCAGGATGGTGAGTTTTGGTCTGGGACCCTCATGGCACCCATTTTGATAAAAGGAAAAAGATAGTAAAACAGGAAATAGGAAGTTTCCAGAGATTTGGGCATCTCAGGATTCCATGAAATGCTGAGACTAACCCACTAAATCCAAATTTTATTGGCTATGGTAAATCTAAATCTGTTCAGTGTTCTGAACAGATTTTATGAGTTTATGTCTAAGAGTTTATGTCTAAGAGAGGTACATAATTCACAAACACTATCATGCTGGCAGCTGTTTTGTCCACATCAATTCCCTTGATTTAATGCTCTGATTTCAATTTAGAAAGTACTGAGACATGTAAAGTCTCAAAATAGGAAAAACCTATCCTGTTTATAAGGTGTGGTCAATAAATAGACCACAGATAATCTTAGTCTATTAATTAACTCTCAGATCATCTTAGACTATTAATTAACATTCTGCTTGCTGCTGATTAAAAAGAAAAAAACCCTAAAACCTTCAGCAACTGAAGTAGTAATATAAAAAATAACCTTTAATAGTTATGGTCAAATTACGCTTCACTTGGATAAACCTCAAAATGTAGTCTGAGTTTTTTTGTGCACACTTCACAAATCCTGGGGGAAAAATCTTTTTTCCACGTTATCTGAAAAACTATATGGCGAAGATACCGCTGAAAAATAATTTGTTTTATGAAATTCCTGAAAAGCTAATTTTGAATTTTTTAAAGTAACTACCTCCCTTTTGTGTCCTAATGTCCTTCCTTCAAAGCTGCTTATAGTTTAGAAATGAAAGATGTCATGTCTCATGCTTTGACTGGTTTTCGGTGGCATATTTGATGTATTTGCCAAGTGGCATTACTGACTTTACAGTAACTGTTACATTATTTTGTACTATATTGCTTTATGTGGTTCAAAAATAGTATATGCCATATTGAAATATGTAATCCTCATGTTGTGAAACTCATCATGTAATACAAATGAAAATCATTACTTAATAACTTACAATTTATCCATATGTAGTTTCAATATGATTGTGTCTATGACTGTAAAACAAAACTGAAAAAATATGTAATGTATTTCTGTTGAAAGCGTGAATGTACTAATTTTTTCCTAATCTTTGTCTAGAAGAAAGATTCTATGTCATTCATTGTACAGCTGCTCTGGGGTGTTACACATTTAAAGTACAATCCAACAGTTGTTTGAAAGTCAGCCTCTCGGCTTTGTTTCATGTGACTGCTGACACTTCTCAAGTGTTCTTTGCATAATGAGGCTGGATTTTGTGCTTCATCGTTCATTTTAAACAATTGAAAAGTCTCATGTGGAAACCAAAGCAATCTAGAACCAGCCTGTTGGGTGACTGTGTCTTCTGTAAAGCCATATTGAAGTGAAGTTATACATAATAGCATAAGGTTCCACATTTTCAAAGCTACCACTACCTCTGCTTTTCCTCTTTCCCTAGAAAATGCCAAGCAAAATTCCCCAACACTAAGTGAGAAATTAGAAGTAATTGTTTTATAATTAAGTTGCTGGGTTTTTTTTTTAACACCTTCTAATTCATCACTTTGTAGGGTTATGCAAGAGTTTCTGAATAACCATTCTTACATGTTTATATTTTATAAAAACCGGCTGCAAGAAAGATTCAGAAAGAATACTTAGTAAGTCATCATATGAAAAACCAACAAAACCATAGAGTGCAGATTTTTTCCTAACTATAAGTCACCTCATAGTTGTCCAAAGCCATGATAATGATATCTCTTACAAATTGACTTCTGTAACCCCCCTAGAAATAACCCTTTTCCTTATTTGATTTTAGTCATCAAACATAGTATGATATGGGAAAAGTCAGCCATTTACCAGAAATTATCTTATTTTGATTTTAAAAACTCATTTCTATATGTAGTTATTGTAATGTCTATTTTTTTAGACTTAAAGATTTATAGAAGACTATAGTTATCTGATTTGTTATTTTGCATTTTTCATTCTGTAAATCTTTGCTTATGGCACATTGTGCTCTCTGTTTTCCATGGTTTTATTCATTTATCTCCTCCTATTTTGAGGGGACAACATGGGTAGTTAAATCTTTGTCAATAGTATTGGAGATAACACTAACTGCTATTATCATAACATCTTCATTTTTACTGCATGCCAAAACCAATGCCTGCCAAACAAAATCTTAGACATCCCAATATAATATGTTAGTTATATTTCTATTCACATCATTATTGAAAATACCCAGCTCAGTGCCTGGCTTAATAAATGTTTAATTCCCTTACCTACTCTTGCTCTATTTTTTTATTTGAAATGGAGATGAGCAAAATAACACATTCATGGCTGAAGCAATTTTTTGGACATTTCTTGTTACCAAAAGATCTATAATCAGGACATTGTTTATGTAAGTTGGACAAAAAAAATTCTTCCCCTTTATGTCCACCCTTCCTATGATTGCAAGACAAAATTTCCCTCCTTTACCTCATCCCTATAACATGGGAGGCTGAGAAAAATGAGGGGAGATGGAACCAGATACAAGGAGATCCAATAAGAGAAGCTTATTTAAATATTGTGAAATAAAGGAAGAACCAAAGCATTTTTTTAAGTGGGGAATCCTTTTGAACAGTTATTATTTATCCATATTATTAACAACATCTTTTCTGACAAAATCCATCAGATGAAGTGTAAATGGATAATCTTTTAATGGATCTAAACCTAGAAAGTTTCACTTACTGTTCATGTCCGTGTTCCAGAATTGTGAAATGGTGTGTGGTTTTGCTTTCCAAGTTCTTCTCTGCCTCCTCTTAATTCTCTAATTCCATGTCTTACAGAAGAATGAGAAATTTCTTTCTTACTTGAGTATCATGCTCTAAAAAACTTGGCTTCAGTCACAGAAACGCTGGCTCTCCTGTGCTTATATTGAAGCCAACTGCCTTTAATTCTTGGGCCCTCTTATATTTTTAAGGTGCAAAATTTGAAGTCTCAGTCACCAGACACAGGTTCTATACAATTAATGATGAGCTGGAGAAGTAATATGTAGCTAATTTTTCAAAAGCATTGAATATACTTTCCGGAAAGAAAACAGAAATTAAATATTGCCACATCTTGCCAGAATCCCATCTGACACCTTAACTTTGTCAGGTTTCCTACAACTTGCTAATCAAGTTTTATACATTCTAAATCTCCCCAGTTTCTTTGGGGCTGGAAGATGCAACTTCCATTTAATAGAAACTTTGAAATCTTGGGGTAAGGGAGCAGTGGGGGGACTAGGGAGAAGGATAAGAAATAGAATTATTGAAAAGCCCCCACCAGGGACCTTCCTGGCCAGAATATGCAGAGTAATTCCTGCTGGCTTCACCTTTGAAAGTCCCTCGAAACTATGCAGATGAAACTGAGTCTGTTTTTGATATTGTCAGATGTATTCTACCTTGGAAGTCCCAACACCTAAACTGGAATTCTTGTATTTACATCTCCTCCACTGTCCCCCACACCACCCCTCAATTCCTGCTGCCCCTGCTAATGTTAAGCATTTTTCTCTTGTTATCATCAGGTTCACATTAAAAACAGATACTTACAAACTGACTTGAAGCACAGATACTTTTACGAATGTGATAAAATATTTTCTTAAGAAAAGGAAAGAGGATGTGGGTCAAATAAAACACCGCATGGATGTTGATTGGTGAATACTGGTGTAAGAAAAGGGAGCTCAGGAATTTTTATTACTGTATTTGTAAATGAGTTTGAAGGAATTTGTAAATGCCACTGGTACATTTTTAAGGTGACACATTTGCTCCTTATAAAGTTATTAAAAATTACAGGGTAAGCTTAAATGACGTTTGCCAGTAGTTTTACTTTATATAATCAATATTGATATTGTTGCTGAACTATGTAACTTTATGATGCATTTTTCAGTCCCTTTTCAGAGCAAATGCTTTTGCAATGGTAGTAATGTTTAGTTTAAATTGACTTAATAAATTATTACCTGAGCAA)$ . 11BR058 ENSG00000047056.16 ENSG00000095777.17 +/+ +/- chr10:1080476 chr10:26194532 CDS/splice-site intron inversion/3'-3' 2 1 0 35 3 high out-of-frame . . . . ENSG00000047056.16 ENSG00000095777.17 ENST00000358220.5 . downstream downstream . ^(AGAACGATGGCCTTTCTGCGGTGTCTGCGACCGGGACCAAGGCGGAGCAAAGTCGCCGGGGGTGTGGGGTGTTCCACGCTATGTTGGGAGTGTTCGCTTTCGAG___CTTATTGCAGGAGTGACCAGGACACTACCTCCTAGAAGTAATGCCCACAGAAAGCGCAAGTTGTTCGACTGCTCGCCAAACAAAACAGAAGCGCAAATCCCATAGCCTTTCTATACGAAGAACTAACAGCTCGGAGCAGGAGAGGACGGGACTGCCAAGAGACATGTTAGAAGGACAA___GATTCTAAACTGCCTTCCTCGGTTCGCAGTACACTTCTGGAACTGTTTGGTCAAATAGAAAGAGAATTTGAAAACCTTTATATCGAAAACTTAGAAT___TACGTAGAGAAATCGACACTCTTAATGAACGTTTAGCTGCTGAAGGAC)AAGCGATTGATGGAGCAGAGCTGAGTAAGGGCCAACTCAAAACAAAAG___CCAGTCACAGCACCAGCCAGCTCTCCCAGAAACTGAAGACCACTTACAAGGCTTCCACCAGCAAG|GGCATAGGGGAGTGCTGCTGTGTCACTGTGGCAGTGGGGAGTGGAAGACTGAATAAATATTGCAAATGGAGGGACCAGCCAGAGGGTGCAAAGGCCTCGGGAGCATGAGGGAATGCAGCTCACCAGCAGAGTTTCAAGCAGTTCACTATGGCTCGAGGACAAGAAGAGGGCAAGAAAAGAGGCTGAAAAGCAGTCACGGG MPTESASCSTARQTKQKRKSHSLSIRRTNSSEQERTGLPRDMLEGQDSKLPSSVRSTLLELFGQIEREFENLYIENLELRREIDTLNERLAAEGQAIDGAELSKGQLKTKASHSTSQLSQKLKTTYKASTSK|gigecccvtvavgsgrlnkyckwrdqpegakasga* 11BR058 ENSG00000234869.1(29094),ENSG00000075240.17(43096) ENSG00000075240.17 ./+ +/+ chr22:46577290 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 3 6 0 12 27 medium . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream duplicates(2),mismappers(1) CTCCCGGGCGGGCGGCAGGCGTAGCGCGGCCGGGCGGCCGGCGAGGGGGGCGCCGCGGCGGGTGGATGAGAGTTGGCCCCGATATCCGCTCAGG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGGAC(AGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCATCATGGCCACAGGAGTCCAGGACTTTAACCGGACAGAGTTTGATCGACTGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC___AGGAGGAGCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 11BR058 ENSG00000228748.2 ENSG00000148606.13 +/- -/- chr10:77792106 chr10:78013790 exon CDS/splice-site duplication/3'-3' 6 0 0 269 57 medium . . |RNA_polymerase_Rpb1__domain_2(100%),RNA_polymerase_Rpb1__domain_3(100%),RNA_polymerase_Rpb1__domain_4(100%),RNA_polymerase_Rpb1__domain_5(100%) . . ENSG00000228748.2 ENSG00000148606.13 . ENST00000372371.8 upstream downstream . GGAAGGATCCGGAACCAGGACCCAGAAGCACCTCCTTTGTAGACAGAGGGCCACGGCTGCGTGCGATCCAGGCCCAGGCCCACACACTCTGCCCGTGTCACACGTGTGCTTTAACACAAAACAGATAACACTAAAGACGGGTTCAGCACCCACCTTTCTTTAGCCAGCTGATCAGAGATGCTGCAAAGAGAACCTTTCGGATCACTCGTTTACAAGCCTTTTCTAA|GCCAGGGTCAAGCCCCACCGGACCTTCAGATTTAATGAGTGTGTCTGTACACCCTATAATGCTGACTTTGATGGTGATGAAATGAACCTTCATCTTCCTCAAACAGAAGAAGCTAAAGCAGAG(GCCCTTGTTCTGATGGGG___ACTAAAGCAAATCTTGTAACCCCGAGGAATGGGGAACCGCTGATTGCTGCTATTCAGGATTTTCTAACAG___GTGCCTATCTCCTCACTCTCAAGGACACTTTCTTTGATCGAGCCAAGGCTTGCCAAATCATTGCTTCAATACTGGTTGGCAAGGATGAGAAAATTAAAGTTCGCCTCCCACCGCCTACAATCCTAAAG___CCTGTCACCCTGTGGACGGGAAAGCAGATCTTCAGTGTCATCCTCAGGCCTAGCGATGACAATCCAGTGAGGGCCAACCTGCGAACCAAGGGCAAGCAGTACTGTGGCAAAGGGGAAGATCTCTGTGCCAATGATTCCT___ATGTTACAATCCAGAACAGTGAGTTGATGAGTGGCAGCATGGACAAAGGAACCCTAGGGTCAGGATCCAAGAACAATATTTTTTACATTTTGCTGCGAGACTGGGGACAGAATGAAGCTGCAGATGCCATGTCACGGCTCGCCAGGCTGGCTCCTGTCTACCTGT___CTAACCGTGGTTTCTCAATTGGGATCGGTGATGTCACACCTGGCCAAGGACTGCTGAAGGCCAAGTATGAGTTGCTGAATGCCGGCTACAAGAAATGTGATGAGTACATCGAAGCCCTGAACACGGGCAAGCTGCAGCAGCAGCCTGGCTGCACTGCTGAGGAGACCCTGGAG___GCACTGATCCTGAAGGAGCTGTCTGTGATCCGTGACCACGCTGGCAGTGCCTGCCTCCGGGAGCTGGACAAGAGCAACAGCCCCCTCACCATGGCTCTGTGCGGCTCCAAAG___GTTCCTTCATTAACATATCACAGATGATTGCCTGTGTGGGACAGCAGGCCATCAGTGGCTCTCGAGTGCCAGACGGCTTTGAAAACAGGTCCTTGCCTCATTTTGAAAAACACTCAAAG___CTCCCAGCTGCCAAAGGCTTTGTGGCTAATAGCTTTTATTCCGGTTTGACACCAACTGAGTTTTTCTTCCACACAATGGCCGGCCGGGAAGGTCTAGTCGACACGGCTGTAAAGACAGCTGAAACGGGATACATGCAG___CGAAGGCTTGTCAAATCTCTTGAAGATCTTTGCTCCCAGTATGATCTGACAGTCCGAAGCTCTACTGGCGATATTATCCAGTTCATTTATGGAGGAGATGGCTTAGATCCTGCAGCTATGGAGGGAAAAGATGAACCTTTGGAGTTTAAAAGGGTTCTGGACAACATCAAA___GCAGTCTTCCCGTGTCCCAGTGAGCCTGCTCTCAGCAAAAACGAGCTGATCCTGACCACAGAGTCCATCATGAAGAAGAGTGAGTTCCTCTGCTGCCAGGACAGCTTCCTGCAG___GAAATAAAAAAATTCATTAAGGGGGTCTCTGAGAAGATCAAGAAAACCAGAGATAAATATGGCATCAATGATAACGGCACAACAGAG___CCCCGTGTGCTGTACCAGCTGGACCGCATCACCCCCACCCAAGTAGAAAAGTTTCTGGAGACCTGTAGGGACAAGTACATGAG___GGCACAGATGGAGCCAGGTTCTGCAGTGGGTGCTCTGTGTGCCCAGAGCATTGGTGAGCCAGGCACCCAGATGACCCTGAAGACTTTCCACTTTGCAGGTGTGGCCTCCATGAACATCACCCTGGGCGTGCCCCGGATTAAAGAGATCATCAACGCTTCCAAGGCCATCAG___CACTCCAATTATCACAGCACAGCTAGACAAGGATGACGACGCGGATTATGCTCGCCTCGTGAAAGGGAGAATTGAGAAAACCCTCTTGGGAGAG___ATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAA___GTGAACGCTGAGACAGTGAGATATTCCATCTGCACATCCAAGCTCCGTGTGAAGCCCGGTGATGTGGCTGTTCATGGTGAGGCTGTGGTGTGTGTCACCCCCAGAGAGAACAGCAAGAGCTCCATGTACTACGTGCTGCAGTTCCTGAAAGAGGATCTCCCCAAG___GTGGTGGTGCAGGGCATTCCAGAGGTGTCCAGAGCTGTCATCCACATTGACGAGCAGAGTGGAAAGGAGAAGTACAAGCTTCTGGTGGAAGGTGATAACCTGCGGGCAGTCATGGCCACACACGGTGTGAAGGGCACCCGAACCACCTCCAATAACACCTATGAG___GTGGAGAAAACTCTGGGCATCGAGGCCGCCCGGACAACGATCATCAATGAAATCCAGTACACCATGGTGAACCACGGCATGAGCATCGACAGGAGGCACGTGATGCTGCTCTCCGACCTCATGACCTACAAG___GGTGAAGTCCTGGGCATCACTAGGTTTGGCCTGGCCAAGATGAAGGAGAGTGTGCTGATGCTGGCCTCCTTTGAGAAGACGGCTGACCATCTCTTTGACGCTGCCTACTTCGGGCAGAAGGACTCTGTGTGTG___GGGTGTCTGAGTGCATCATCATGGGAATCCCAATGAACATTGGAACCGGGCTCTTCAAGCTGCTTCACAAGGCTGACAGGGACCCGAACCCTCCCAAGAGGCCCCTGATCTTCGACACAAATGAATTCCACATCCCCCTTGTCACATAGTCCAAAGAAAGAGGGGACCATGCCTGACCTTGACTCCTTGTCCTGTCTCCAGCTGATGTATAAAGAGTTTTGTGCTCCCTGGGACGGGGGTCCTGAGGTCCCCACCTATGCCAGCAATCAGAGAAGCCCTCTTGGCATCCCCAGGAGCAGCTTCTCCTCTGATAGGGTGCAGCTCACACCAGTGACCCTGACTGTGCCACGCTGCTCGGGAGAGCTGAGGGTTTTATTGTTTGCTTGCTTGAAACCTAATCTATAGACGGCCCCACAGCTCGTGCACACACTGCTTCCCTGGACTTAAAGCCCAGCCAGGTGTCATGGTCCATCCCAGCTCACTGCATACATCCATCGGCTCCCCATGGTGTCTTCACACCTGACGATGAGCCAGGCCTGAGCCCCACACAGGCCAGGGCACATTCTTGGATTTTCCATTCCTTGGTCATGCTGGAATCTCTCAATGTGACATACTTATGTAAATATTGTTACTATTATTTATTTGTTCCATTTGAGGGATTTGGAATTTTTGTTATTTTAGTTTTATTTTTGAAACCAAGCATCTATAGAAACCAAGAAAGTCAGCATGTAAGCGTCACTGGAAAAACTGGTTTAAGCAAATAGAGCCGTCTGGGATTTGTAACTGAGGTGCAACTGTCATGAGGCCCAGGCAGCTCTGTAACATCTTCTATAGATGCCCCTGGCTACCCTGTTGTTTTCATCTACCTCAGACCCCTATCATGGGGCTCTACCCTGTGACAAGAGCCAAACCCATTCTCCATGGCCTATGGAAGCCTCACTGGAGTTTGGGGCCTGCTGCAATGGGGATGAGATGGTTTTTTGTAGAATTATACTTACGTTCCTTGGATGATCTCTAGTTGATTTTTTAAGTTCTGAGTTGATGCTGTTAAGGTACCCGGGGTAGCCATTGGTTCTTGGATCTGTGTTAGAATGAGTGCTTTCCCTTCCTACTGATGTGATTGTGGATTAGGAATTCGTGACCGAGTGATTTTTGGCCAGTGGTTGGGTTTAAAATTCTATTAAAATTTGTAGTTTGGGCTGGGTGCTGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCGAGGGGGGCAGATCACTTGAGCCCAGGAGTTCGAGAGCAGCCTGGGCAACATGACGAAACCCCGTCTCTACAGAGAATACAAAAATTAGCCAGGCATGGTGGCCCATGCCTGTAGTACCTGCTATTGGTAAGGCTGAGGTGGAAGGTTCACTTGAGCCTGGGAGGTGGAGGTTGTAGTGAGCCAAGATCGTGCCACTACACTCCAGCCTGGGCAACAAAGCAAGACCTTGTCTCAAAAAAAAAAAAGAAAAAAATTAAGCGTAAAAAAAAATTAGTTTTTATAAAAAATTATAGTTTGACCTTTTGATTTCCCTGCATCTACAAGGTAGACCTATTAACTTCTCTTGGGGTATCAGTGATGTGGAAAAAAAATGCCATTTTTCTTAATGTTTAACCCCCCTTTATCTTTGAATTGAGCTAGAGCCTGGTTTAGGACAAAGGATTAAGTTTGTTAATGAACACTAATTCAGGGCTTCTACTTGAGACCCCACCGAGATCACCAGTTCTCATGTAACCTGGGAAGAGCCATAAAGGGGTACCCCCCACCCCAACTGCCTTCCTGGAAGCATGCCTGGGAAGTAAGCTGTAGGCCTGATCCGAGCCAGGACCACTGGGATCCGTGCAAAGGCCAGGGGAGGGTAGAATTGAATCATAGGAGTGAACTCCGGCACCTGTTGTCTTCTGCGGGTGACGCACACTTTAAATGGAAGAGAGGTTGTGGCTATAACTTGTGGCTGGGAATAATAAAGATGGCACCGCCAAGGAGCCTCACCTTGCGTGAGTGAGTACTCAGTTGGGCGCTGCAGGGTCTGGAGTCTGTGTGAGACGTGTGTGATTGTGATGGGTGCGAATCAGCGTATAGCACTTGAGAACAAGGCAGACCTTGGAGCAGAATGGTTATGTGAAGGATCACATCACCCATGGGTAGGGGGGGAAGTCATACGTCCTGGAGGTGCTGGTCCTCCTCCTGGAACTGCCAGCCTTGCTAGGACTATCAACATCAACAGCATTGCCTGGTAAACCCTACTGTTTGTGCTCCCCACTGTGTCCCATGACTGGTGTTAAAATTCTCCCTACTTTGATCATCTGCCCTGCCCAGGCCTTGGGCTTTATGCCAGCACAGAGCTCAAAGGCCAGGTAGCAGCACATCCTCAAGCATGAGAGCTCAAAGGGTTACATTTGAGTCTCTGTACCTGCTTGGAAGAAATAAAAATACGTGTGAATTCCATCTCA)$ . 11BR058 ENSG00000151208.17 ENSG00000148606.13 -/- -/- chr10:77792106 chr10:78013790 3'UTR CDS/splice-site duplication 6 0 0 269 57 medium stop-codon . Guanylate_kinase(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Takusan(100%),Unstructured_region_between_two_PDZ_domains_on_Dlg5(100%)|RNA_polymerase_Rpb1__domain_2(100%),RNA_polymerase_Rpb1__domain_3(100%),RNA_polymerase_Rpb1__domain_4(100%),RNA_polymerase_Rpb1__domain_5(100%) . . ENSG00000151208.17 ENSG00000148606.13 ENST00000372391.7 ENST00000372371.8 upstream downstream . ^(CAGTCCCGCCGCCGCGGCAGCCAACATGGCTGCGCTCCGGAGCCCGGGAGGCGGCCGCTGCTGAGCGCCGCCCGCCGCCCCGGGCCCCCAGCCCGCCCAGGCCCCGGCCCATGGCTCCCGCCGCCTCACGGCTCCCGGCGCCCTAGGGCTGCTGCCGAGGTGCTCGCCTGCCCGCCCGCCGGCCTCGGGGGGCCCGGGAGGCGTCCGGCGGGGCGGGGCGGCGCGGCCCGCCACCATGGAGCCCCAGCGCCGGGAGCTGCTCGCCCAGTGTCAGCAGAGCCTGGCCCAGGCCATGACGGAGGTGGAAGCCGTGCTCGGGCTGCTCGAGGCCGCGGGAGCGCTCAGTCCCGGCGAGCGGCGGCAGCTGGACGAGGAGGCGGGAGGCGCCAAGGCGGAGCTGCTGCTCAAGCTGCTCTTGGCCAAGGAGCGGGACCACTTCCAGGACCTGCGGGCGGCGCTGGAGAAGACGCAGCCTCACCTGCTGCCCATTCTCTACCTGAACGGCGTCGTCGGGCCGCCGCAGCCCGCCGAAGGCGCGG___GTTCTACCTACAGCGTCCTGTCCACCATGCCCTCAGACTCAGAAAGCAGCAGCTCCCTCAGCAGTGTGG___GCACTACCGGGAAGGCGCCGTCCCCACCACCCCTCCTCACTGACCAGCAAGTGAATGAGAAGGTGGAGAACCTCTCCATTCAGCTGCGGCTGATGACCCGGGAGAGAAACGAGCTCCGCAAGCGCCTGGCCTTTGCTACGCATGGCACGGCCTTTGACAAGAG___GCCCTACCACAGGCTGAATCCTGACTATGAGAGGCTGAAGATCCAGTGCGTGCGAGCCATGTCGGACCTGCAGAGCCTGCAGAACCAGCACACCAACGCCTTGAAGAGGTGTGAGGAGGTGGCCAAGGAGACTGACTTCTACCA___CACACTCCACAGCCGGCTCCTGAGTGACCAGACTCGGCTGAAGGATGACGTGGACATGCTGAGGCGGGAGAATGGGCAGCTGCTGCGGGAGCGAAACCTGCTGCAGCAGTCATGGGAGGACATGAAGCGGCTCCACGAGGAGGACCAGAAGGAGATCGGTGACCTCCGTGCCCAGCAGCAGCAG___GTGTTGAAGCACAACGGGTCATCCGAGATTCTCAACAAACTGTATGACACGGCCATGGACAAGTTGGAGGTGGTCAAGAAGGACTATGACGCCCTTCGGAAGAGGTACAGTGAGAAAGTCGCCATCCACAATGCAGACCTGAGCCGCCTGGAGCAGCTGGGGGAGGAGAACCAGCGGTTGCTGAAGCAGACAGAGATGCTGACCCAGCAGAGGGACACGGCCATCCAGCTGCAGCACCAGTGCGCCCTCTCCCTGAGGAG___GTTTGAGGCGATCCACCATGAGCTGAACAAGGCCACGGCGCAGAACAAGGACCTGCAGTGGGAGATGGAGCTGCTGCAGTCAGAGCTGACCGAGCTGAGAACCACGCAGGTGAAGACAGCAAAGGAGTCGGAGAAATACAGGGAGGAGCGGGACGCTGTGTACAGCGAGTACAAGCTCATCATGAGTGAGCGTGACCAGGTCATCTCTGAGCTGGACAAGCTGCAGACCGAAGTGGAGCTGGCCGAGTCCAAGCTCAAGAGCAGCACATCTGAGAAGAAGGCGGCCAATGAGGAGATGGAGGCGCTGCGGCAG___ATCAAAGACACGGTGACAATGGATGCTGGGAGAGCCAACAAGGAGGTTGAAATCCTTCGAAAGCAGTGCAAGGCTCTGTGCCAGGAGCTGAAGGAAGCCCTCCAGGAGGCGGATGTGGCCAAGTGCCGGCGGGACTGGGCCTTCCAGGAGCGAGACAAGATTGTAGCAGAGCGTGACAGCATCCG___GACACTGTGTGACAACCTGAGGCGGGAGCGGGACCGTGCGGTGAGCGAGCTGGCTGAGGCCCTGCGCAGCCTGGATGACACCCGCAAGCAGAAGAATGATGTCAGCCGCGAGCTGAAGGAGCTCAA___GGAACAGATGGAATCCCAGTTGGAAAAGGAGGCCCGGTTCCGACAGCTGATGGCCCACAGCTCCCACGACTCGGCCATTGACACGGATTCCATGGAGTGGGAAACGGAAGTTGTAGAGTTCGAGAGGGAGACG___GAGGATATTGACTTGAAGGCACTGGGGTTTGATATGGCAGAAGGTGTGAATGAGCCTTGTTTCCCGGGGGACTGTGGCATATTTGTCACTAAAGTGGACAAAGGAAGCATTGCTGATGGCCGCTTAAG___GGTCAATGACTGGCTGCTGAGAATCAACGATGTGGACCTCATCAACAAGGACAAGAAGCAGGCCATCAAGGCGCTCCTCAATGGGGAGGGGGCCATCAACATGGTCGTGCGGCGGAGGAAGTCCCTGGGTGGGAAGGTGGTCACGCCGCTGCACATCAACCTCAGTGGACAGAAAG___ACAGTGGCATCAGTCTGGAGAATGGAGTGTATGCTGCCGCTGTGCTGCCTGGAAGCCCTGCCGCTAAAGAAGGGTCCCTTGCTGTGGGAGACAGGATCGTTGCG___ATCAATGGCATTGCACTGGACAACAAGTCTCTGAATGAATGTGAATCTCTGCTGCGCAGCTGCCAGGACTCCCTGACCCTGTCCCTCCTGAAG___GTATTCCCTCAGAGCTCCTCGTGGAGTGGCCAGAACATTTTTGAAAATATCAAAGACTCTGATAAGATGCTGAGTTTTCGAGCCCATGGCCCGGAGGTCCAGGCTCATAACAAACGGAACTTGATACAGCACAATAACTCCACGCAGACAGACATCTTCTACACGGACAGGCTGGAAGACAGGAAGGAGCCAGGCCCCCCAGGAGGCAGCAGCTCCTTTCTGCATAAGCCATTCCCTGGGGGACCCTTGCAGGTCTGCCCCCAGGCCTGTCCCAGTGCCTCTGAGCGTAGCCTGAGCTCCTTCCGCTCAGATGCCTCTGGGGACCGTGGCTTTGGGCTGGTGGACGTGCGTGGCCGGCGGCCACTGCTGCCCTTTGAGACCGAGGTGGGCCCCTGTGGGGTTGGGGAGGCCTCCCTGGACAAGGCAGACTCTGAAGGCTCCAACAGCGGCGGGACCTGGCCCAAGGCCATGCTCAGCTCCACGGCAGTGCCTGAGAAGCTCTCTGTTTATAAAAAGCCAAAGCAAAGAAAGTCCATCTTTGACCCTAACACTTTCAAACGCCCCCAGACACCCCCCAAAATAGACTACCTGCTTCCAGGTCCTGGGCCTGCTCACTCTCCCCAGCCCTCCAAGAGGGCGGGGCCTCTGACACCCCCAAAACCTCCCAGAAGGAGCGACTCCATTAAGTTCCAGCACAGGCTGGAGACTAGCTCCGAGTCAGAAGCCACTCTGGTGGGCAGCTCCCCATCCACTAGTCCCCCGAGCGCCCTGCCCCCTGACGTGGACCCCGGGGAGCCCATGCACGCATCACCCCCTCGCAAGGCCAGGGTCCGCATTGCTTCCAGCTACTACCCTGAAGGAGATGGGGACTCCTCCCACCTGCCGGCCAAGAAATCCTGTGATGAGGACCTCACCTCCCAGAAGGTGGATGAGCTGGGGCAGAAGCGTCGCCGGCCAAAATCTGCTCCCAGTTTTCGGCCGAAGCTTGCTCCAGTAGTGATTCCTGCTCAGTTCCTGGAG___GAACAGAAGTGTGTCCCGGCCAGTGGAGAACTCTCCCCGGAGCTCCAGGAGTGGGCACCTTACTCGCCTGGGCATTCCAGCCGGCACAGCAACCCCCCGCTATACCCTAGCAGGCCGTCTGTGG___GCACTGTTCCCCGGAGTTTGACCCCCAGCACCACTGTGAGCTCCATCCTGCGGAACCCCATCTACACTGTGCGCAGTCACAGGGTCGGCCCCTGCAGCTCTCCACCTGCGGCCCGAGATGCTGGCCCCCAGGGTTTGCATCCCAG___TGTCCAGCACCAGGGACGCCTGAGCCTGGACCTGAGCCACAGGACCTGCAGCGACTACTCCGAGATGAGAGCCACCCATGGGTCCAACTCACTGCCCTCCAGCGCCCGCCTGG___GTTCTTCGAGTAACTTGCAGTTCAAGGCGGAACGCATTAAAATCCCATCAACACCAAGATATCCGCGGAGTGTCGTGGGCTCCGAGAGAG___GTTCAGTGTCACATTCTGAATGCAGCACTCCTCCACAGTCACCCCTGAACATCGACACCCTGTCCTCTTGTAGCCAGTCCCAGACCTCAGCCTCCACATTGCCCAGAATCGCTGTCAACCCCGCGTCCCTCGGGGAGCGGAGAAAGGACAG___GCCTTATGTGGAGGAGCCACGCCACGTGAAGGTGCAGAAGGGCTCAGAGCCGCTGGGCATCTCCATCGTGAGTGGAGAGAAGGGCGGCATCTACGTCTCCAAGGTGACCGTGGGGAGCATCGCTCACCAGGCTGGCCTCGAGTATGGGGATCAGTTACTGGAG___TTCAACGGCATAAACCTGCGGAGCGCCACGGAGCAGCAGGCGCGGCTCATCATCGGGCAGCAGTGTGATACCATCACCATCCTGGCCCAGTACAACCCCCACGTGCACCAGCTCAGCAGCCACTCCCGGTCCAG___CTCACACCTGGACCCTGCCGGTACCCACTCCACTCTCCAGGGCAGTGGCACCACCACCCCGGAGCATCCATCTGTCATCGACCCACTGATGGAGCAGGACGAGGGGCCTAGCACCCCCCCAGCCAAGCAGAGCAGCTCCAG___GATTGCGGGAGATGCCAACAAGAAGACCCTGGAGCCACGCGTTGTCTTCATCAAAAAGTCCCAGCTGGAGCTTGGGGTGCACTTGTGTGGTGGGAACCTGCATGGGGTGTTTGTGGCCGAGGTGGAGGATGACAGTCCTGCCAAGGGTCCTGACGGCCTCGTGCCAGGGGACCTCATCCTGGAG___TATGGCAGCCTGGACGTGCGGAACAAGACAGTGGAGGAAGTCTATGTGGAGATGCTGAAGCCCAGGGATGGCGTCCGCCTGAAGGTGCAGTACCGCCCTGAGGAGTTCACGAAGGCCAAGGGCCTGCCTGGTGACAGCTTCTACATCAG___GGCCCTGTACGACCGGCTGGCAGATGTGGAGCAAGAGTTGAGCTTTAAGAAGGACGACATCCTCTACGTGGATGACACCTTACCCCAGGGCACGTTCGGGTCCTGGATGGCTTGGCAGCTGGACGAGAATGCCCAGAAGATCCAGCGCGGGCAGATTCCCAGCAAATATGT___GATGGACCAAGAATTCTCCAGGAGGCTCAGCATGTCTGAAGTCAAAGATGACAATAGCGCCACAAAGACGCTGTCAGCGGCTGCACGCCGGTCCTTTTTTCGGAGGAAACACAAGCACAAACGCAGCGGGTCCAAGGACGGGAAAGACCTGCTCGCCTTGGATGCCTTTTCCAGTGACTCCATTCCACTCTTTGAAG___ATTCGGTGAGCCTGGCCTATCAGCGGGTCCAGAAGGTGGACTGCACCGCTCTGAGGCCTGTCCTGATTCTGGGGCCTTTGCTGGACGTGGTGAAGGAGATGCTGGTGAATGAGGCTCCTGGCAAGTTCTGCAGATGTCCCCTTG___AGGTGATGAAGGCCTCCCAGCAGGCCATTGAGCGGGGTGTCAAAGATTGCCTGTTTGTCGACTATAAGCGGAGAAGCGGCCATTTCGATGTGACCACTGTGGCGTCAATAAAGGAGATCACAGAAAAG___AACCGACACTGCCTCCTGGACATTGCTCCGCACGCTATTGAGCGGCTCCACCACATGCACATCTACCCCATTGTCATCTTCATCCACTACAAGAGCGCCAAGCACATCAA___GGAGCAGAGAGACCCCATCTACCTGAGGGACAAGGTGACTCAGAGGCATTCCAAAGAGCAGTTTGAGGCGGCGCAGAAGCTTGAGCAGGAGTACAGCAGGTACTTCACAG___GGGTCATCCAGGGAGGAGCCCTGTCAAGCATTTGCACTCAGATCTTGGCAATGGTCAATCAAGAACAAAATAAAGTCCTGTGGATTCCAGCCTGCCCGCTCTAGGAGAATGCTGTGCTGTGGATGACTGCAGCTGGCCGCCTGAGGGGACACCAGACTCAGCTCTTTTCTAGCGACTGAAAGTAGAAGTCTGTCCGTCTATGAACATGCGGG)GGAAGGATCCGGAACCAGGACCCAGAAGCACCTCCTTTGTAGACAGAGGGCCACGGCTGCGTGCGATCCAGGCCCAGGCCCACACACTCTGCCCGTGTCACACGTGTGCTTTAACACAAAACAGATAACACTAAAGACGGGTTCAGCACCCACCTTTCTTTAGCCAGCTGATCAGAGATGCTGCAAAGAGAACCTTTCGGATCACTCGTTTACAAGCCTTTTCTAA|GCCAGGGTCAAGCCCCACCGGACCTTCAGATTTAATGAGTGTGTCTGTACACCCTATAATGCTGACTTTGATGGTGATGAAATGAACCTTCATCTTCCTCAAACAGAAGAAGCTAAAGCAGAG(GCCCTTGTTCTGATGGGG___ACTAAAGCAAATCTTGTAACCCCGAGGAATGGGGAACCGCTGATTGCTGCTATTCAGGATTTTCTAACAG___GTGCCTATCTCCTCACTCTCAAGGACACTTTCTTTGATCGAGCCAAGGCTTGCCAAATCATTGCTTCAATACTGGTTGGCAAGGATGAGAAAATTAAAGTTCGCCTCCCACCGCCTACAATCCTAAAG___CCTGTCACCCTGTGGACGGGAAAGCAGATCTTCAGTGTCATCCTCAGGCCTAGCGATGACAATCCAGTGAGGGCCAACCTGCGAACCAAGGGCAAGCAGTACTGTGGCAAAGGGGAAGATCTCTGTGCCAATGATTCCT___ATGTTACAATCCAGAACAGTGAGTTGATGAGTGGCAGCATGGACAAAGGAACCCTAGGGTCAGGATCCAAGAACAATATTTTTTACATTTTGCTGCGAGACTGGGGACAGAATGAAGCTGCAGATGCCATGTCACGGCTCGCCAGGCTGGCTCCTGTCTACCTGT___CTAACCGTGGTTTCTCAATTGGGATCGGTGATGTCACACCTGGCCAAGGACTGCTGAAGGCCAAGTATGAGTTGCTGAATGCCGGCTACAAGAAATGTGATGAGTACATCGAAGCCCTGAACACGGGCAAGCTGCAGCAGCAGCCTGGCTGCACTGCTGAGGAGACCCTGGAG___GCACTGATCCTGAAGGAGCTGTCTGTGATCCGTGACCACGCTGGCAGTGCCTGCCTCCGGGAGCTGGACAAGAGCAACAGCCCCCTCACCATGGCTCTGTGCGGCTCCAAAG___GTTCCTTCATTAACATATCACAGATGATTGCCTGTGTGGGACAGCAGGCCATCAGTGGCTCTCGAGTGCCAGACGGCTTTGAAAACAGGTCCTTGCCTCATTTTGAAAAACACTCAAAG___CTCCCAGCTGCCAAAGGCTTTGTGGCTAATAGCTTTTATTCCGGTTTGACACCAACTGAGTTTTTCTTCCACACAATGGCCGGCCGGGAAGGTCTAGTCGACACGGCTGTAAAGACAGCTGAAACGGGATACATGCAG___CGAAGGCTTGTCAAATCTCTTGAAGATCTTTGCTCCCAGTATGATCTGACAGTCCGAAGCTCTACTGGCGATATTATCCAGTTCATTTATGGAGGAGATGGCTTAGATCCTGCAGCTATGGAGGGAAAAGATGAACCTTTGGAGTTTAAAAGGGTTCTGGACAACATCAAA___GCAGTCTTCCCGTGTCCCAGTGAGCCTGCTCTCAGCAAAAACGAGCTGATCCTGACCACAGAGTCCATCATGAAGAAGAGTGAGTTCCTCTGCTGCCAGGACAGCTTCCTGCAG___GAAATAAAAAAATTCATTAAGGGGGTCTCTGAGAAGATCAAGAAAACCAGAGATAAATATGGCATCAATGATAACGGCACAACAGAG___CCCCGTGTGCTGTACCAGCTGGACCGCATCACCCCCACCCAAGTAGAAAAGTTTCTGGAGACCTGTAGGGACAAGTACATGAG___GGCACAGATGGAGCCAGGTTCTGCAGTGGGTGCTCTGTGTGCCCAGAGCATTGGTGAGCCAGGCACCCAGATGACCCTGAAGACTTTCCACTTTGCAGGTGTGGCCTCCATGAACATCACCCTGGGCGTGCCCCGGATTAAAGAGATCATCAACGCTTCCAAGGCCATCAG___CACTCCAATTATCACAGCACAGCTAGACAAGGATGACGACGCGGATTATGCTCGCCTCGTGAAAGGGAGAATTGAGAAAACCCTCTTGGGAGAG___ATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAA___GTGAACGCTGAGACAGTGAGATATTCCATCTGCACATCCAAGCTCCGTGTGAAGCCCGGTGATGTGGCTGTTCATGGTGAGGCTGTGGTGTGTGTCACCCCCAGAGAGAACAGCAAGAGCTCCATGTACTACGTGCTGCAGTTCCTGAAAGAGGATCTCCCCAAG___GTGGTGGTGCAGGGCATTCCAGAGGTGTCCAGAGCTGTCATCCACATTGACGAGCAGAGTGGAAAGGAGAAGTACAAGCTTCTGGTGGAAGGTGATAACCTGCGGGCAGTCATGGCCACACACGGTGTGAAGGGCACCCGAACCACCTCCAATAACACCTATGAG___GTGGAGAAAACTCTGGGCATCGAGGCCGCCCGGACAACGATCATCAATGAAATCCAGTACACCATGGTGAACCACGGCATGAGCATCGACAGGAGGCACGTGATGCTGCTCTCCGACCTCATGACCTACAAG___GGTGAAGTCCTGGGCATCACTAGGTTTGGCCTGGCCAAGATGAAGGAGAGTGTGCTGATGCTGGCCTCCTTTGAGAAGACGGCTGACCATCTCTTTGACGCTGCCTACTTCGGGCAGAAGGACTCTGTGTGTG___GGGTGTCTGAGTGCATCATCATGGGAATCCCAATGAACATTGGAACCGGGCTCTTCAAGCTGCTTCACAAGGCTGACAGGGACCCGAACCCTCCCAAGAGGCCCCTGATCTTCGACACAAATGAATTCCACATCCCCCTTGTCACATAGTCCAAAGAAAGAGGGGACCATGCCTGACCTTGACTCCTTGTCCTGTCTCCAGCTGATGTATAAAGAGTTTTGTGCTCCCTGGGACGGGGGTCCTGAGGTCCCCACCTATGCCAGCAATCAGAGAAGCCCTCTTGGCATCCCCAGGAGCAGCTTCTCCTCTGATAGGGTGCAGCTCACACCAGTGACCCTGACTGTGCCACGCTGCTCGGGAGAGCTGAGGGTTTTATTGTTTGCTTGCTTGAAACCTAATCTATAGACGGCCCCACAGCTCGTGCACACACTGCTTCCCTGGACTTAAAGCCCAGCCAGGTGTCATGGTCCATCCCAGCTCACTGCATACATCCATCGGCTCCCCATGGTGTCTTCACACCTGACGATGAGCCAGGCCTGAGCCCCACACAGGCCAGGGCACATTCTTGGATTTTCCATTCCTTGGTCATGCTGGAATCTCTCAATGTGACATACTTATGTAAATATTGTTACTATTATTTATTTGTTCCATTTGAGGGATTTGGAATTTTTGTTATTTTAGTTTTATTTTTGAAACCAAGCATCTATAGAAACCAAGAAAGTCAGCATGTAAGCGTCACTGGAAAAACTGGTTTAAGCAAATAGAGCCGTCTGGGATTTGTAACTGAGGTGCAACTGTCATGAGGCCCAGGCAGCTCTGTAACATCTTCTATAGATGCCCCTGGCTACCCTGTTGTTTTCATCTACCTCAGACCCCTATCATGGGGCTCTACCCTGTGACAAGAGCCAAACCCATTCTCCATGGCCTATGGAAGCCTCACTGGAGTTTGGGGCCTGCTGCAATGGGGATGAGATGGTTTTTTGTAGAATTATACTTACGTTCCTTGGATGATCTCTAGTTGATTTTTTAAGTTCTGAGTTGATGCTGTTAAGGTACCCGGGGTAGCCATTGGTTCTTGGATCTGTGTTAGAATGAGTGCTTTCCCTTCCTACTGATGTGATTGTGGATTAGGAATTCGTGACCGAGTGATTTTTGGCCAGTGGTTGGGTTTAAAATTCTATTAAAATTTGTAGTTTGGGCTGGGTGCTGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCGAGGGGGGCAGATCACTTGAGCCCAGGAGTTCGAGAGCAGCCTGGGCAACATGACGAAACCCCGTCTCTACAGAGAATACAAAAATTAGCCAGGCATGGTGGCCCATGCCTGTAGTACCTGCTATTGGTAAGGCTGAGGTGGAAGGTTCACTTGAGCCTGGGAGGTGGAGGTTGTAGTGAGCCAAGATCGTGCCACTACACTCCAGCCTGGGCAACAAAGCAAGACCTTGTCTCAAAAAAAAAAAAGAAAAAAATTAAGCGTAAAAAAAAATTAGTTTTTATAAAAAATTATAGTTTGACCTTTTGATTTCCCTGCATCTACAAGGTAGACCTATTAACTTCTCTTGGGGTATCAGTGATGTGGAAAAAAAATGCCATTTTTCTTAATGTTTAACCCCCCTTTATCTTTGAATTGAGCTAGAGCCTGGTTTAGGACAAAGGATTAAGTTTGTTAATGAACACTAATTCAGGGCTTCTACTTGAGACCCCACCGAGATCACCAGTTCTCATGTAACCTGGGAAGAGCCATAAAGGGGTACCCCCCACCCCAACTGCCTTCCTGGAAGCATGCCTGGGAAGTAAGCTGTAGGCCTGATCCGAGCCAGGACCACTGGGATCCGTGCAAAGGCCAGGGGAGGGTAGAATTGAATCATAGGAGTGAACTCCGGCACCTGTTGTCTTCTGCGGGTGACGCACACTTTAAATGGAAGAGAGGTTGTGGCTATAACTTGTGGCTGGGAATAATAAAGATGGCACCGCCAAGGAGCCTCACCTTGCGTGAGTGAGTACTCAGTTGGGCGCTGCAGGGTCTGGAGTCTGTGTGAGACGTGTGTGATTGTGATGGGTGCGAATCAGCGTATAGCACTTGAGAACAAGGCAGACCTTGGAGCAGAATGGTTATGTGAAGGATCACATCACCCATGGGTAGGGGGGGAAGTCATACGTCCTGGAGGTGCTGGTCCTCCTCCTGGAACTGCCAGCCTTGCTAGGACTATCAACATCAACAGCATTGCCTGGTAAACCCTACTGTTTGTGCTCCCCACTGTGTCCCATGACTGGTGTTAAAATTCTCCCTACTTTGATCATCTGCCCTGCCCAGGCCTTGGGCTTTATGCCAGCACAGAGCTCAAAGGCCAGGTAGCAGCACATCCTCAAGCATGAGAGCTCAAAGGGTTACATTTGAGTCTCTGTACCTGCTTGGAAGAAATAAAAATACGTGTGAATTCCATCTCA)$ . 11BR058 ENSG00000197182.14 ENSG00000188064.10(10410),ENSG00000280424.1(19044) +/+ ./+ chr22:46086204 chr22:45987572 intron intergenic duplication 3 1 1 12 5 medium . . . . . ENSG00000197182.14 . ENST00000360737.4 . downstream upstream . ^(CAA)CTCGATGAGAGGAGGACTCCTCCTGGGCCTGGTGCTTCGAGGTCCAGACGAGCAGACACTGGCGCCTGTGACCCTGCAGCGGACGCCCTTCAAAGTCCGTGTGGCCGCATTTGGAAGCCTGGGCGGCGTGGAGACGGCGCCTTCAGCTTGAGATAGTAAGTTGCCCAATGCCTGCACCTGTGGAGACTCCCAGCACCTG|CCGTCAGTGCCTGCTTTGATCTCAAAGCAAAGTCAGGGCCAAGCCCTGGTGCCATGAATGGCAGCAGGAGGCAGGCACATTCCTGGGAGGAAGGGGACGGGTCCCCCGTGAGGCTCCACCTTTAGGGCCAGGGAGGGCCTGAAGGCTGGAGGCTGGGCTTtCAGTCCCACCAACCTGAATGGGAATTTGTGGTGCCTTTTCTGGGCCTGCCCATGGCTACCCATGGACCAATCTGCATGCAC . 11BR058 ENSG00000171862.11 ENSG00000200891.1(40604),ENSG00000227905.1(12836) +/+ ./+ chr10:87894109 chr10:88035299 CDS/splice-site intergenic deletion/read-through 2 1 0 200 12 medium out-of-frame . . . . ENSG00000171862.11 . ENST00000371953.8 . downstream upstream . ^(GTTCTCTCCTCTCGGAAGCTGCAGCCATGATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCCTCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTCTTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCGCGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGGTCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGGCTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGGAGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTCGCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGCCAAGTCCAGAGCCATTTCCATCCTGCAGAAGAAGCCCCGCCACCAGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCTCCCAGACATGACAGCCATCATCAAAGA)GATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCT___ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAG|GCATTATGAACATTCATTGTTCTTAAGCAGGCCTTTCCCTGGTTTGTTAGCATGCTCAATTATTTCAAGATCATCTTCTAAGTGTTCACTAAAATGGATGACATACATTTCAGAGAAGAATTTTTTGTTTGTGGAACGAATGCATGAATGAGGACAAGGAGAGGCCTGGATCACAACTTTGTACTGGAATATCAGGAGTTGTGTAAAGCAAGGAAGCGGAG MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVr|hyehslflsrpfpgllacsiisrssskcslkwmtyiseknflfvermhe* 11BR058 ENSG00000164190.19 ENSG00000039560.14 +/+ +/+ chr5:37008723 chr5:34757468 CDS/splice-site CDS/splice-site duplication 3 0 0 31 73 medium out-of-frame . |Ankyrin_repeat(100%),Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%) . . ENSG00000164190.19 ENSG00000039560.14 ENST00000282516.13 ENST00000265109.8 downstream upstream . ^(ATTTTGTTCTGAGAGGGAGAGACGGAACGAGAGAGAGACACACACAGGGCTCCTTCCCCCCGCCCTCCCCCCCCTCCCTCCGTCGGTACCGACTCACCCGACACCACCAAGCCGCAGGGAGGGACGCCCCCGCCGACAGGAGAATTGGTTCCCGGGCCCGCGGCGATGCCCCCCCGGTAGCTCGGGCCCGTGGTCGGGTGTTTGTGAGTGTTTCTATGTGGGAGAAGGAGGAGGAGGAGGAAGAAGAAGCAACGATTTGTCTTCTCGGCTGGTCTCCCCCCGGCTCTACATGTTCCCCGCACTGAGGAGACGGAAGAGGAGCCGTAGCCACCCCCCCTCCCGGCCCGGATTATAGTCTCTCGCCACAGCGGCCTCGGCCTCCCCTTGGATTCAGACGCCGATTCGCCCAG___TGTTTGGGAAATGGGAAGTAATGACAGCTGGCACCTGAACTAAGTACTTTTATAGGCAACACCATTCCAGAAATTCAGGATGAATGGGGATATGCCCCATGTCCCCATTACTACTCTTGCGGGGATTGCTAGTCTCACAGACC___TCCTGAACCAGCTGCCTCTTCCATCTCCTTTACCTGCTACAACTACAAAGAGCCTTCTCTTTAATGCACGAATAGCAGAAGAGGTGAACTGCCTTTTGGCTTGTAGGGATGACAATTTGGTTTCACAGCTTGTCCATAGCCTCAACCAGGTATCAACAGATCACAT___AGAGTTGAAAGATAACCTTGGCAGTGATGACCCAGAAGGTGACATACCAGTCTTGTTGCAGGCCGTCCTGGCAAGGAGTCCTAATGTTTTCAGGGAGAAAAGCATGCAGAACAGATATGTACAAAGTG___GAATGATGATGTCTCAGTATAAACTTTCTCAGAATTCCATGCACAGTAGTCCTGCATCTTCCAATTATCAACAAACCACTATCTCACATAGCCCCTCCAG___CCGGTTTGTGCCACCACAGACAAGCTCTGGGAACAGATTTATGCCACAGCAAAATAGCCCAGTGCCTAGTCCATACGCCCCACAAAGCCCTGCAGGATACATGCCATATTCCCATCCTTCAAGTTACACAACACATCCACAGATGCAACAAG___CATCGGTATCAAGTCCCATTGTTGCAGGTGGTTTGAGAAACATACATGATAATAAAGTTTCTGGTCCGTTGTCTGGCAATTCAGCTAATCATCATGCTGATAATCCTAGACATGGTTCAAGTGAGGACTACCTACACATGGTGCACAGGCTAAGTAGTGAC___GATGGAGATTCTTCAACAATGAGGAATGCTGCATCTTTTCCCTTGAGATCTCCACAGCCAGTATGCTCCCCTGCTGGAAGTGAAGGAACTCCTAAAG___GCTCAAGACCACCTTTAATCCTACAATCTCAGTCTCTACCTTGTTCATCACCTCGAGATGTTCCACCAGATATCTTGCTAGATTCTCCAGAAAGAAAACAAAAGAAGCAGAAGAAAATGAAATTAGGCAAGGATGAAAAAGAGCAGAGTGAGAAAGCGGCAATGTATGATATAATTAGTTCTCCATCCAAGGACTCTACTAAACTTACATTAAGACTTTCTCGTGTAAGGTCTTCAGACATGGACCAGCAAGAGGATATGATTTCTGGTGTGGAAAATAGCAATGTTTCAGAAAATGATATTCCTTTTAATGTGCAGTACCCAGGACAGACTTCAAAAACACCCATTACTCCACAAGATATAAACCGCCCACTAAATGCTGCTCAATGTTTGTCGCAGCAAGAACAAACAGCATTCCTTCCAGCAAATCAAGTGCCTGTTTTACAACAGAACACTTCAGTTGCTGCAAAACAACCCCAGACTTCTGTGGTACAGAATCAACAACAGATATCACAACAGGGACCTATATATGATGAAGTGGAATTGGATGCATTGGCTGAAATTGAGCGAATAGAGAGAGAATCAGCTATTGAAAGGGAGCGCTTCTCAAAAGAAGTTCAAGATAAAG___ATAAGCCTTTGAAAAAAAGAAAACAAGATTCTTACCCACAGGAGGCTGGGGGTGCTACAGGAGGTAATAGACCAGCTTCTCAGGAGACGGGTTCTACGGGAAATGGGTCAAGGCCAGCATTAATGGTTAGCATTGATCTTCATCAGGCAGGAAGAGTGGACTCTCAGGCTTCTATAACTCAGGATTCAGACTCCATAAAAAAGCCTGAAGAAATCAAACAATGTAATGATGCACCTGTTTCTGTTCTTCAGGAAGATATTGTTGGAAGTCTTAAATCTACACCAGAAAACCATCCTGAGACACCTAAAAAAAAGTCTGATCCTGAGCTTTCAAAGAGTGAAATGAAACAAAGTGAAAGTAGATTAGCAGAATCTAAACCAAATGAAAACCGATTGGTGGAGACAAAATCAAGTGAAAATAAGTTAGAAACTAAAGTTGAGACCCAAACAGAAGAACTTAAACAGAATGAGAGCAGAACAACTGAATGCAAACAAAACGAGAGCACCATAGTTGAGCCTAAACAAAATGAAAATAGACTGTCTGACACAAAACCAAATGACAACAAACAAAATAATGGCAGATCAGAAACAACAAAATCAAGGCCTGAAACCCCAAAGCAAAAGGGTGAAAGCCGGCCTGAGACTCCAAAACAAAAGAGTGATGGGCATCCTGAAACCCCAAAACAGAAGGGTGATGGAAGGCCTGAAACTCCAAAGCAAAAAGGTGAGAGCCGCCCTGAAACTCCAAAGCAAAAAAATGAAGGGCGACCTGAAACACCAAAACACAGGCATGACAATAGGAGGGATTCTGGAAAGCCATCTACAGAGAAAAAACCTGAAGTGTCTAAACATAAACAAGATACTAAATCTGACTCACCTCGGTTAAAATCAGAACGAGCTGAAGCCTTAAAGCAGAGACCTGATGGGCGATCTGTTTCTGAGTCACTAAGACGTGACCATGATAATAAACAAAAATCAGATGACAGGGGTGAATCAGAGCGACATCGAGGGGATCAGTCTAGGGTTCGAAGACCAGAAACATTGAGATCCTCTAGTAGAAATGAACATGGCATTAAATCTGATAGTTCAAAAACTGATAAACTAGAACGAAAACACAGGCATGAATCAGGGGACTCAAGGGAAAGACCATCTTCTGGGGAACAAAAATCAAGACCTGACAGTCCTCGTGTTAAACAAGGAGATTCTAATAAATCAAGATCTGATAAACTTGGTTTTAAATCACCAACTAGTAAAGATGACAAAAGGACAGAGGGTAACAAGAGTAAAGTAGACACTAATAAAGCACACCCTGACAATAAGGCAGAATTTCCAAGTTATTTGTTGGGGGGCAGGTCTGGTGCGTTGAAAAATTTTGTCATTCCGAAAATCAAGAGGGATAAAGATGGCAATGTTACTCAGGAGACAAAGAAAATGGAAATGAAAGGAGAGCCGAAAGACAAAGTAGAAAAAATAGGATTAGTTGAAGATCTAAATAAAGGAGCTAAGCCTGTAGTTGTGCTACAAAAACTGTCTTTGGATGATGTTCAGAAACTTATTAAAGATAGAGAGGACAAATCAAGAAGTTCCCTTAAACCTATCAAGAATAAACCATCAAAGTCAAATAAAG___GTAGTATAGATCAATCAGTGTTAAAAGAATTACCCCCTGAACTCCTGGCAGAAATTGAGTCCACCATGCCACTTTGTGAACGTGTGAAAATGAACAAACGCAAGCGTAGCACAGTTAATGAAAAGCCAAAATATGCTGAAATCAGTTCAGATGAAGATAATGATAGTGATGAAGCTTTTGAAT___CCTCTAGGAAACGACATAAAAAAGATGATGATAAAGCTTGGGAATATGAAGAGCGTGACAGAAGAAGCTCTGGGGATCATAGGAGAAGTGGCCACTCTCATGAAGGAAGAAGGAGTTCAGGTGGTGGTCGTTATCGAAACCGAAGTCCGTCAGATTCTGACATGGAAGATTATTCTCCTCCTCCCAGCCTTAGTGAGG___TTGCTAGGAAAATGAAGAAAAAAGAAAAACAGAAGAAAAGGAAAGCATATGAACCAAAACTAACACCTGAAG___AAATGATGGACTCTTCAACTTTTAAGAGATTCACAGCCTCAATAGAGAATATTTTGGATAATTTGGAAGATATGGATTTTACTGCGTTTG___GTGATGATGATGAAATTCCTCAGGAACTGCTCTTAGGAAAACATCAGCTTAATGAACTTGGCAGTGAATCTGCTAAAATAAAAGCAATGGGTATAATGGATAAG___CTTTCAACTGACAAAACTGTGAAAGTCTTAAATATCTTGGAGAAGAATATTCAGGATGGGTCAAAGCTTTCCACTTTGTTAAATCAT___AATAACGATACTGAAGAAGAAGAAAGGTTATGGAGAGACCTTATTATGGAGAGAGTTACAAAATCAGCGGATGCTTGTCTTACAACTATCAACATTATGACATCCCCTAACATGCCAAAAGCTGTGTACATTGAGGATGTAATTGAAAGAGTTATACAGTACACTAAATTTCATTTGCAGAATACACTTTATCCTCAGTATGATCCTGTTTACAGATTAGATCCTCATGGAG___GAGGCTTATTAAGTTCAAAAGCAAAACGGGCTAAATGTTCTACCCATAAGCAGAGAGTAATAGTAATGCTTTATAACAAAGTTTGTGACATTGTTAGCAGCTTATCAGAATTGCTAGAGATACAACTTCTTACAGACACAACAATTCTTCAG___GTTTCATCTATGGGAATAACACCATTTTTTGT)GGAAAATGTCAGTGAACTACAGTTGTGTGCCATTAAGTTAGTCACTGCA___GTATTCTCAAGATATGAAAAACATAGGCAGTTAATTTTGGAAGAAATTTTTACTTCACTTGCAAGATTACCAACCAGCAAGAGGAGTTTAAGGAACTTCAG|ACCAATGAGTGGAACAAGAATGATGACCGGCTACTGCAGGCCGTGGAGAATGGAGATGCG(GAGAAGGTGGCCTCACTGCTCGGCAAGAAGGGGGCCAGTGCCACCAAACACGACAGTGAGGGCAAGACCGC___TTTCCATCTTGCTGCTGCAAAAGGACACGTGGAATGCCTCAGGGTCATGATTACACATGGTGTGGATGTGACAGCCCAAGATACTACCG___GACACAGCGCCTTACATCTCGCAGCCAAGAACAGCCACCATGAATGCATCAGGAAGCTGCTTCAG___TCTAAATGCCCAGCCGAAAGTGTCGACAGCTCTGGGAAAACAGCTTTACATTATGCAG___CGGCTCAGGGCTGCCTTCAAGCTGTGCAGATTCTCTGCGAACACAAGAGCCCCATAAACCTCAAAGATTTG___GATGGGAATATACCGCTGCTTCTTGCTGTACAAAATGGTCACAGTGAGATCTGTCACTTTCTCCTGGATCATGGAGCAGATGTCAATTCCAGGAACAAAAGTGGAAG___AACTGCTCTCATGCTGGCCTGTGAGATTGGCAGCTCTAACGCTGTGGAAGCCTTAATTAAAAAGGGTGCAGACCTAAACCTTGTAGATTCTCTTGGATACAATGCCTTACATTATTCCAAACTCTCAGAAAATGCAGGAATTCAAAGCCTTCTATTATCAAAAATCTCTCAGGATGCTG___ATTTAAAGACCCCAACAAAACCAAAGCAG___CATGACCAAGTCTCTAAAATAAGCTCAGAAAGAAGTGGAACTCCAAAAAAACGCAAAGCTCCACCACCTCCTATCAGTCCTACCCAG___TTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAG___GCTGAGATCAGTTCTATACGAGAAAACAAAGACAGACTAAGTGACAGTACTACAG___GTGCTGATAGCTTATTGGATATAAGTTCTGAAGCTGACCAACAAGATCTTCTCTCTCTATTGCAAGCAAAAGTTGCTTCCCTTACCTTACACAATAAGGAGTTACAAGATAAATTACAG___GCCAAATCACCCAAGGAGGCGGAAGCAGACCTAAGCTTTGACTCATACCATTCCACCCAAACTGACTTGGGCCCATCCCTGGGAAAACCTGGTGAAACCTCTCCCCCAGACTCCAAATCATCTCCATCTGTCTTAATACATTCTTTAGGTAAATCCACTACTGACAATGATGTCAGAATTCAGCAACTGCAAGAGATTTTGCAAGATCTACAGAAGAGATTAGAGAGCTCTGAAGCAGAGAGAAAACAGCTACAGGTCGAACTCCAATCCCGAAGGGCAGAACTGGTATGCTTAAACAACACTGAGATTTCAGAGAACAGCTCTGACCTCAGCCAGAAACTTAAAGAAACTCAGAGCAAATACGAGGAGGCTATGAAAGAAGTCCTTAGTGTGCAGAAGCAGATGAAACTCGGTCTTGTCTCACCTGAAAGCATGGATAATTATTCACATTTCCACGAGCTGAGGGTCACGGAAGAGGAAATAAATGTGCTAAAGCAGGATCTGCAGAATGCATTAGAAGAAAGTGAAAGAAATAAAGAGAAAGTGAGAGAGTTAGAGGAAAAACTGGTAGAGAGGGAGAAAGGTACAGTGATTAAGCCACCTGTGGAAGAGTACGAGGAAATGAAAAGTTCATATTGCTCTGTTATTGAGAATATGAATAAGGAGAAAGCATTTTTGTTTGAGAAATACCAAGAAGCCCAAGAAGAAATCATGAAATTAAAAGACACACTAAAAAGTCAGATGACACAGGAAGCCAGTGATGAAGCTGAGGACATGAAAGAAGCCATGAATAGGATGATAGATGAACTCAATAAACAGGTGAGCGAGCTGTCACAGCTGTACAAAGAAGCCCAGGCTGAGCTGGAGGATTACAGGAAGAGGAAATCTCTAGAGGATGTCACAGCTGAATATATCCATAAAGCAGAGCATGAGAAACTGATGCAATTGACAAACGTGTCCAGGGCTAAAGCAGAAGATGCACTGTCTGAAATGAAGTCTCAGTATTCAAAAGTGTTGAATGAGTTGACCCAGCTCAAACAACTGGTGGATGCACAAAAAGAGAACTCTGTCTCTATCACAGAACATTTGCAAGTGATAACCACGCTGCGGACTGCAGCAAAAGAGATGGAAGAAAAAATAAGCAATCTTAAGGAACACCTTGCAAGCAAGGAAGTGGAAGTAGCAAAGCTGGAGAAACAACTCTTAGAAGAGAAAGCTGCTATGACTGATGCAATGGTACCTCGGTCTTCCTATGAAAAACTCCAGTCATCCTTAGAGAGTGAAGTGAGTGTGTTGGCATCGAAATTAAAGGAATCTGTGAAAGAGAAAGAGAAGGTCCATTCAGAGGTTGTCCAGATTAGAAGTGAGGTCTCACAGGTGAAAAGAGAAAAGGAAAATATTCAGACTCTCTTGAAATCCAAAGAGCAAGAAGTAAATGAACTTCTGCAAAAATTCCAGCAAGCTCAGGAAGAACTTGCAGAAATGAAAAGATACGCTGAGAGCTCTTCAAAACTGGAGGAAGATAAAGATAAAAAG___ATAAATGAGATGTCGAAGGAAGTCACCAAATTGAAGGAGGCCTTGAACAGCCTCTCCCAGCTCTCCTACTCAACAAGCTCATCCAAAAGGCAGAGTCAGCAGCTGGAGGCGCTGCAGCAGCAAGTCAAACAGCTCCAGAACCAGCTGGCG___GAATGCAAGAAACAACACCAGGAGGTCATATCAGTTTACAGAATGCATCTTCTGTATGCTGTGCAG___GGCCAGATGGATGAAGATGTCCAGAAAGTACTGAAGCAAATCCTTACCATGTGTAAAAACCAGTCTCAAAAGAAGTAAAGTGGATTCCTTGGCAGGACACTGCCCCTTGTCATCTGTCTTTGTGTTAGATCCAGAGTTGTCGGCAGCCGCTGCCATTGTTCTCATTCGTGGTATGCACTGTGGCCTAGCGTAGCTTCTTCCCTTTCCAAAGGTTTCTGAGGACTTCTCCCAGGAGAAGACTGCCCGCCTCAGAACTGCTTAGAGACTTCAAACCAGCAGAGGTGAAAGTCCCTGTCATCCCTTCAGATTCCAGAGCTGGGATCAGCCATGCCCAGAGGTCTGGTCCTGATGCTGGCAGGGGGGCCCCCTCCTCCATCCCTGACTGGCTGAGTGGCTTTATCACCACCGAGTGATGTGCTGAGGCCTCCTGCAGTGAATGCTCCTTCCATTCCTGTACTCGGGCAGTGCCATTCAGCACAGGAGAGCTCTTTTTGCCTTTGGCTTTCAATTCCAAAACATGATTTAATTTCTAACTAAATTAGTATGGCACTAGTTATGAAGTATCTGCTTAAAACCCTTCATCATGATATCCTGTGGATTTAAAAACTCTAATTCCATGTTTTCTTCCCATCTGCCTTATATATCTCATCACCCTGCTTATCAATATTCAGTTTGATGAGCACTATTAACTAAAATATGAAACTTAAAAACAAAAGCAAGTTGTCCTTAAAAGTTCTTTTTTTAAGTAAATTGTTGACATACTGCAAATTTTCTATGCAAACTTGCCTCCTGCTGTTATCTGTGAAGCTCAGGAAATCCAAACATTTGTGTTTCAACAAGGGACAGTAAACTGTGTGTTTACAGCCAAAAGAAATGCCTCATAGTTCTTAACCTCAACTTTTGTAGAAGTATTTTTTTCTCTGTAATATTTTTATTGGCTCATAAAGATGTTTTCATATCTGAACTCCTAAATAAGTGAAATTACAGTAGATTATATTAACAAAATACTTTTTAGGTAGCCATGCTTGAGACTTTTTAAAAATATAACTTTTTCCTTAAAGTTTTCAGCTATAGCAAAAGGTAGTTATGTATGCCAGACCTAATATGAGCTGCCACCAACACCCCTAGAACTTTCAGCCATGGTGTCTTCAGAATTGTAGCGCATTTCTGAATCTAGCAAATCCTCCTTTTACCCGTTGAATGTTTTGAATGCCCTGACTCTACCAGCGCCCATAAATGATCTCTAGAAGGACTGTTAGTACCAATCTGTTTTTCAACTTTGAAGCTAAAAACCCTGATATGGTAATATTATGGTGCATAGCAGAGGTCTCGGAAAAAAAATATTTCTGTTCACTTTACTTTCAGGTTAAAAATGTTTCTAACACGCTTGCAACTTCCCTTATGGCATTAATCTTGTTGAGGGAGAGAGACAGAATCCTGGACTCTCCAAAGTATTTAACTGAAAGTAGGGCCTGCTCTGACAGGGCCCATGTCCCACAAGGCTGCTTGGCCTCAGTGGGTGCTTGGCTGTGCTGGATGATATGTTGATCTGTATTGGATAAGGACCAATGACAGCAAAGCAAAAATGGCTTTAAAGCTTGGTGTTACTTTTCTTAAGTTGTTTAATTATAGTTAAGCAATTTCAAAAATGCTCCAAAGAAATGTGAAAGGACCTTTTGTCACAGCACTTCAGAAAATACACAACAGCCCCTTCTGCCCCCGCACAGAAATGCTGCAGAGTATATAAAACTTGAGACATTTTTGTAGGATGCCTGACGAGGTGTAGCCTTTTATCTTGTTTCCGGATGCATATTTATTACGAGTACTCTGGTTAAATATTGAAAAGTTATATGCTGTAGTTTTTAGTATTTTGTCTTTGTAATTTACAGAAGTTATTGGAGAAAATAAACTTGTTTCATTTTGCA)$ MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDNLVSQLVHSLNQVSTDHIELKDNLGSDDPEGDIPVLLQAVLARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAPQSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASFPLRSPQPVCSPAGSEGTPKGSRPPLILQSQSLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTLRLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQTSVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKDKPLKKRKQDSYPQEAGGATGGNRPASQETGSTGNGSRPALMVSIDLHQAGRVDSQASITQDSDSIKKPEEIKQCNDAPVSVLQEDIVGSLKSTPENHPETPKKKSDPELSKSEMKQSESRLAESKPNENRLVETKSSENKLETKVETQTEELKQNESRTTECKQNESTIVEPKQNENRLSDTKPNDNKQNNGRSETTKSRPETPKQKGESRPETPKQKSDGHPETPKQKGDGRPETPKQKGESRPETPKQKNEGRPETPKHRHDNRRDSGKPSTEKKPEVSKHKQDTKSDSPRLKSERAEALKQRPDGRSVSESLRRDHDNKQKSDDRGESERHRGDQSRVRRPETLRSSSRNEHGIKSDSSKTDKLERKHRHESGDSRERPSSGEQKSRPDSPRVKQGDSNKSRSDKLGFKSPTSKDDKRTEGNKSKVDTNKAHPDNKAEFPSYLLGGRSGALKNFVIPKIKRDKDGNVTQETKKMEMKGEPKDKVEKIGLVEDLNKGAKPVVVLQKLSLDDVQKLIKDREDKSRSSLKPIKNKPSKSNKGSIDQSVLKELPPELLAEIESTMPLCERVKMNKRKRSTVNEKPKYAEISSDEDNDSDEAFESSRKRHKKDDDKAWEYEERDRRSSGDHRRSGHSHEGRRSSGGGRYRNRSPSDSDMEDYSPPPSLSEVARKMKKKEKQKKRKAYEPKLTPEEMMDSSTFKRFTASIENILDNLEDMDFTAFGDDDEIPQELLLGKHQLNELGSESAKIKAMGIMDKLSTDKTVKVLNILEKNIQDGSKLSTLLNHNNDTEEEERLWRDLIMERVTKSADACLTTINIMTSPNMPKAVYIEDVIERVIQYTKFHLQNTLYPQYDPVYRLDPHGGGLLSSKAKRAKCSTHKQRVIVMLYNKVCDIVSSLSELLEIQLLTDTTILQVSSMGITPFFVENVSELQLCAIKLVTAVFSRYEKHRQLILEEIFTSLARLPTSKRSLRNFr|pmsgtrmmtgycrpwrmemrrrwphcsarrgpvppnttvrarplsilllqkdtwnasgs* 11BR058 ENSG00000172239.14 ENSG00000249266.1(88768),ENSG00000260786.1(131132) -/- ./- chr5:43543004 chr5:42057134 CDS/splice-site intergenic deletion 2 0 1 441 4 medium out-of-frame . Ataxin-2_C-terminal_region(100%),MIF4G_domain(100%)| . . ENSG00000172239.14 . ENST00000306846.8 . upstream downstream . ^(GGAAAGCCGAGGGTAGCCGAGCGGGGCGGGCGCTCTGGAGCGGCGGGTGCTCGGGCTGCCGTCCGCTCCGCCAGAAGCACCGAGCAGCCGAGCCGGGGCCCGCCGCCCTCCTCCTCCATGAGGCCCGAGTGAGGCGCGGCGGCTATAGCCGACCCGCGGCGCCTTCCCCCCGCGTCCTATCGCGAGCGCAGCGGCAGCGGCCCCTGGAGGAGGAGGCGGAGGAGGAGGAGCATGTCGGACGGTTTCGATCGGGCCCCAGGTGCTGGTCGGGGCCGGAGCCGGGGCCTGGGCCGCGGAGGGGGCGGGCCTGAGGGCGGCGGTTTCCCGAACGGAGCGGGGCCTGCTGAGCGGGCGCGGCACCAGCCGCCGCAACCCAAAGCCCCGGGCTTCCTGCAGCCACCGCCGCTGCGCCAGCCCAGGACGACCCCGCCGCCAGGGGCCCAGTGCGAGGTCCCCGCCAGCCCCCAGCGGCCTTCCCGGCCCGGGGCGCTCCCAG___AGCAAACGAGGCCCCTGAGAGCTCCACCTAGTTCACAGGATAAAATCCCACAGCAGAACTCGGAGTCAGCAATGGCTAAGCCCCAGGTGGTTGTAGCTCCTGTATTAATGTCTAAGCTGTCTGTGAATGCCCCTGAATTTTACCCTTCAGGTTATTCTTCCAGTTACACA___GAATCCTATGAGGATGGTTGTGAGGATTATCCTACTCTATCAGAATATGTTCAGGATTTTTTGAATCATCTTACAGAGCAGCCTGGCAGTTTTGAAACTGAAATTGAACA)GTTTGCAGAGACCCTGAATGGTTGTGTTACAACAGATGATGCTTTGCAAGAACTTGTGGAACTCATCTATCAACAG___GCCACATCTATCCCAAATTTCTCTTATATGGGAGCTCGCCTGTGTAATTACCTGTCCCATCATCTGACAATTAGCCCACAGAGTGGCAACTTCCGCCAATTGCTACTTCAAAG|CACCATTATTCGCAATAATCAAGATGTGAAAACAACCTACATGTCCATCAACAGATGAATGAATAAAGAAAATGTG...TTAAAAACAAGGAAATTCTATAATACACAGCAGCATGAATGAACTTTGAGGACATTACGCTGTGTAAAGTAAGCCAGTCATAGAGACAAATACTGCATGATTCCTCTTATATTAAGTATCTAAAATAGTCAAACTCATAGAAGCAGGG MSDGFDRAPGAGRGRSRGLGRGGGGPEGGGFPNGAGPAERARHQPPQPKAPGFLQPPPLRQPRTTPPPGAQCEVPASPQRPSRPGALPEQTRPLRAPPSSQDKIPQQNSESAMAKPQVVVAPVLMSKLSVNAPEFYPSGYSSSYTESYEDGCEDYPTLSEYVQDFLNHLTEQPGSFETEIEQFAETLNGCVTTDDALQELVELIYQQATSIPNFSYMGARLCNYLSHHLTISPQSGNFRQLLLQs|tiirnnqdvkttymsinr* 11BR058 ENSG00000234869.1(49171),ENSG00000075240.17(23019) ENSG00000075240.17 ./+ +/+ chr22:46597367 chr22:46626751 intergenic 5'UTR/splice-site deletion/read-through 2 1 0 5 27 medium . . . . . . ENSG00000075240.17 . ENST00000406902.6 downstream upstream . CTTGCAGGTGCCAGGTGTAGGCCCTGGAGGTGGCACACAGACCAGCTCCTGCTCAGTGCCCTGTGTCCCTCCTGGCAGGAGGCATACTGCTAAGCAAGGCTGTTTTAAAGAGGGTTTGTTTAAGTTGGATGTTTAGGAGGTTAGGTTCCCCCAAGGAGAAAATGCTATGAAGCCCCCAAAGGCGTATGGGGATGAGATGATGTG|GGAACCCGAGCGTCATGTTAGGGTGAAGCAGAGGACCTCAGTGCTGAACATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAAATCCCCCTGAAGG(TACCGCGGACCTCGCCCCGGGACAGCGAGGAGCTGAGGGACCCT___GCTGGTCCAGGGACCCTCATCATGGCCACAGGAGTCCAGGACTTTAACCGGACAGAGTTTGATCGACTGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTAC___AGGAGGAGCTCCGGAAGCTGCGAGAAGAAACCAACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAG___AACCGAGGAGCAGATGGCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAG___AGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTTGGGGAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAG___GTTAACTGAAAATATGAGACGGCTCA___AGCGCGGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACC___GTGTACATGAATGCCGTGTGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAG___GGGGTGGCGGATACAGTGGAGCATCGTGCCCGAAGTGTCTGAGCCCGTG___GAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAG___AACCTTTTCGGGAAGATGGCTGACATCCTGGAGAAGATCAAGAA___CTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGCTTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGG___GACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAGTACGACACGCCCTATATCATCTGGAGGAGTCTCCCCACCGACCCGCAGCTCAAGGAGCGCTCCAGCGCCGCAGTCTCACGCAGG___CTGCAGACGACCTCGTCACGGAGCTACGTACCCAGCGCACCGGCCGGCCTGGGTAAAGAGGAGGACGCCGGTCGCTTCCACAGCACCAAGAAGGGCAATTTCCACGAGATCTTCAATCTGACAGAAAACGAGCGTCCGCTGGCGG___TGTGCGAGAATGGCTGGCGCTGCTGCCTCATCAACAGGGACCGGAAGATGCCCACGGACTACATCAGGAACGGGGTGCTCTACGTCACGGAGAA___TTACTTGTGCTTCGAAAGCTCCAAATCTGGGTCCTCAAAGAGGAACAAAGTCATCAAGCTAGTGGACATCACGGACATCCAGAAG___TACAAGGTCCTGTCTGTCCTCCCAGGCTCAGGCATGGGGATTGCCGTGTCGACGCCATCCACCCAGAAA___CCGCTCGTGTTTGGTGCCATGGTGCACAGGGATGAGGCCTTCGAGACCATTCTCAGCCAGTACATCAAGATCACCTCAGCGGCAGCGTCTGGCGGGGACAGCTAGTATTGACTTGCCCAGGACGTTGCTGGAATTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTACGATTTGGTAGTGGAAACAATTGGACATCCTCATGAGCTTTTGCAATAATTCTCCTGGACCTGTGGTTCTATTGTGTTGACCTCTGCGTTTTATCGACCAAGAAGGGGCCAGGGCTCACAGGGACGGGGGTGCCCCTCTCCCACAGGGCACGTCAGGTGCCTCTGAGGGCCACCCGCAGACTGGGGGAGGGGGCAGAGGCCCTCGGGGGCCCGTGGAGAAGACACACAGGACCCCTGGCCCTGCCCTTCTCCGTTCCAGCCTGGACAGAGAAACCTCTCCAGCCACCCCAAGAGGTTCTCGCAACCTTGTGTCCCGCTCTCCAGAGGCCAGAAGCTCGTCCACCACCAAAGCCATAGCTGAAGAGTGCGGGGCCCTTCCTCCTGGGGACAGAAAGATGTCGTCAAGGAGGGACATGGGGGCCTTTCACCAACCACCGAGAAACGGGCCTGGCGGCCCTCCTTCCTCTTACATGAGACCCTCCTGTGGCATTTGCCCTTGGTGCCGGGCTGGGGCCGGGCGCAGTGACCCTGCCTGCGCTCCACACTCGCTCCACGGGAACAGAGAGGGTGAGAAGGGCCCACCCCTCGCCTGCCCTCAGTGTCTTTGGTGGCACCTTCCTTGCTGGCCTCCAGGGCGCTCAGCACCGCGTCTGTAAGGGCCTGCCTGCTGCTCTCGGCCTGACACGCCGGCCAGGAGGTCTGTAGCTGGGGACCAGTAAGGGCACAGGATGGTGCAGGTAAAAGCACATCTTTCTCACACTTTGCTCTTTGGAAGGCCCAGGAGAACATCCGCGAAGGCTGTTGGAGGTGCTCCGAGCACTGTGGCATGTCTGGCACATGGCCCCCAGGCTGCGGTTGCCTGGGTTGGTTGGGGGAGGAAGTGGGGAGGAGTGTTCCGGGACCATGGTGGCCCAGGCTGCAGCCGCCTTTGGGCCATCCGAGAGGCTCTGGCAGCCCCTGTGCTTTAGGGAGCAACCGTGAGCCGAGCCCAGAGGCCTGGGCCTGCACTGCCTGCAGCCGACATGCGACAGCGTTCCCTCCCCCGCGTGCCTAGCCGGTGCCGGTCCGGGCACAGACCCCCCCAGCCCCCGCCCTGCCCCAGGGAAGCCTGGGCTTCCCGGGAACAAGGTGGCATTTGTGGAGGGAGCGCCCGCAGGCCTGGTCTGCTGGGGCCGCCTGCGCTGGGCTGAAGGGAGGGAAAGGCGGCTTGGGCCTCCTGGAAGGAGGTGGCCACCCCGCGGGCCTGCGTGTCTGCTGGGGCGGATCCCGCAGCTCCCTCAGCTTGTCCTGAGTCCCTTGGGTGTCGTTGAGATTGTTGTTTTTTGAAGAAACAGAAGATTCTATTTTTTACAGCGAGCAAGCTGGTTTTCTTATTTTTGTATCCTTTTTCAGATGTAATTTTTATCTTTGCTCCGATCCTCATTTGCTGGTGTGGGTGAGGGATCCGGCGGCATGGGCTGGTTTCACCCCCTTCACGAGGGGCCGCAGAGTCACACGCTGGTGCCGGGGGTGCTTTGGGGGGAGCTGCGCCGATCACCAGATTAAGCACATGTCCTATCCCAGGCGGTGGAGCGGAGCCCCCGTGGCTCTGGACTGCGCGGACGTTGGCGTCAGGATGACCACACGGCGGCCTTTCCCGAATGGGGACAGAACCCGCTCTGAGCCGTGGGTCTGGCTCCTGTAGGGGACTGGCTCTCTTGGTGCACCAGGGGAGGGGGACATATCCCAGTGAACCCCACCTTGGCGCCTGAGGCAACACAGGGTGGGCACTGACCCACCCCCAGGGGCGGCTGCAGAGGCAGTGCCCGCAGACAATGGCCACACCTCTCTCCCCAGGGCCCGGCAGTGCCCAAGGATGGGTCCGGGGCCTCGGGGCCAATGAGCGCCTCTTCCTAGGTGCTGGGATTCAGTCCCCAAACACAGCGGGAGGGGTCCCTGGGGCAGATGGGGCTTTACCAGCGTCGGGTGGTTTAGTTCGAGTCCCTTTTGTGGAGAAAGGGAGATGAAAACTGACCACGTGCCAGGTGTGGCCGAAGCCCCCAGGGAGGGCCACATTCGGGGAGCGGGGGGTCGGGGGAGGGCCACCGACTGGCTCTGCTGCCAGCACAGGCCCCTCCCTGGAAGTCCTCGGGAGCGGAGCGCGGATCGGCACGGGCTCTGGGCTCCCCGTGGAGAGAAGCTGTAGTTTTTACCAAATTGTGTACATCTGGGCAGATGTTTAATTTCTGTGACTAATCACTGAACTAGACGAATGTTAAATTTTTTATGTCTGAAGCCTGAGTCTATTTTGGATCTGTAAATAATCATTGCCAGTGTGACTTTTGTTCAACAAAAGGATTGTACTGTATTAAGAACCGATGAAAAAAATTCTCCTGTAACATTTTTTTAAGAAAACTTTGTTTGTTTAAAGAAAAAGTATTGTATAAATTATAATTTTTATTTAAATAAACCTAAAATGCTTTGTGCTAA)$ . 11BR058 ENSG00000242288.9 ENSG00000234580.1(113977),ENSG00000224812.3(77511) -/- ./- chr10:73680071 chr10:44716081 exon/splice-site intergenic deletion 2 0 0 43 3 medium . . . . . ENSG00000242288.9 . ENST00000399449.3 . upstream downstream . ^(GTGAGCAAGTTCGGTGCCGCGGGCTGGG___ATTAGAATTACTTGTTATTGGTAAATAGCCACTATGGAGACTAAGGACCAGAAGAAACAAAGAAAGAAAAATAGTGGACCCAAAGCTGCAAAGAAAAAGAAGCGGCATCTGCAGGATCTCCAGCTAGGAGACGAAGAAGATGCCTGGAAGAGAAATCCCAAAGCTTTTGCATTTCAGTCTGCTGTGTGGATGGCTCGATCCTTTCACAG___GACTCAGGATTTGAAGACAAAAAAGCATCATATTCCAGTGGTTGATCGAACTCCACTAGAGCCCCCACCAATAGTGGTAGTGGTGATGGGGCCTCCAAAGTTGGAAAGAGCACTTTGATACAATGCCTCATTCGGAACTTCACCCGGCAGAAGTTGACCGAGATCAGAGGCCCTGTGATGATCGTGTCAG___GTAAAAAGCTCCGACTCACCATTATTGAATGTGGGTGTGACATTAACATGATGATTGATCTGGCTGAAGTAGCAGATCTG___GTACTGATGCTTATAGATGCCAGCTTTGGGTTTGAAATGGAAACGTTTGAGTTTCTAAACATCTGTCAAGTACATGGCTTTCCTAAAATTATGGGAGTTCTCACCCACCTCGACTTCTTCAAACACAATAAGCAACTGAAGAAGACAAAGAAGCGATTAAAACACAGGTTCTGGACAGAAGTTTACCTG___GTTGCCAAGCTGTTCTGCCTTTCTGGAATGGTGCATGGAGAATATCAAAACCAAGAAATGCACAATCTGGGCCATTTTATTACAGTTATGAAGTTTAGGCCTCTCACATGGCAGACTTCTCATCCTTATATCCTGGCAGACAG___GGTGGAAGATTTGACAAACCCAGAGGATATCCAAACAAACATCAGATGTGACCAGCAGATGTTACTTTACGGTTATTTAAGAGGAGCGCACTTGAAAAATAAAAGCCAAATTCACATGCCAG___GACGAGGTGGGGCCCACCCATGAGCTGGTCCAGAGTCTCATCTCCACCCACTCCACCATTGATGCCAAGATGGCTTCAAGTCGAGTGATGTTGTTTTCTGATTCCAAGCCACTTGGGTCAGAGGCTATAGATAATCAAGG___GGACGAGTTCTCACTATGTTGCCCAGGCTGGCCTCGAACTCCTGGGCTCAAGCAATCCTCCTGCGTTGGCCTCCCAAAGTCCTGGGATTACAGGTGTAAGCCACTACGGCTGGCCTATTATTGCTGTATTCTAACTTATTCATCTCCTATG___TGTCAGAGATGGCTTTGGATTCCCCGTTCTGTGTGCTGCTGTCTGGCTCCTGAACCCAGCTGTAGAGGTGTGTCAATCCCAACTGGTGAAGTACTGAGAGGAAGCTACACAAAAGGCAGCAAAGTATTAGTAAGT___GTGAGTGGTGTCATTGAGCAAACACGAAGTCGGGCTCATCCAAGGATGAGATTTTGCCAGAGAAAGGACGAGCAGCAAGTCAGGGAGCTTAAG___CGTCAGCCTCGAGTTTGACCAGCAACAGGGGTCGGTGTGTCCCTCTGAATCTGAGATCTATGAGGCAGGAGCTGGGGACAGGATGGCAGGAGCGCCCATGGCTGCTGCTGTGCAGCCTGCTGAGGTGACCGTTGAAGTTGGTGAGGACCTCCACATGCACCACATTCGTGACCAGGAGATGCCTGAAG___CTTTGGAGTTTAGCCTTTCTGCCAATCCAGAGGCAAGCACAATATTCCAGAGGAACTCTCAAACAGATG___CTTTGGAGTTTAACCCTTCTGCCAATCCAGAGGCAAGCACAATATTCCAGAGGAACTCTCAAACAGATG___TTGTAGAAATAAGAAGAAGCAACTGTACAAACCAT___GTATCTACTGAGCG)TTTCAGTCAACAATACAGCTCGTGTTCGACAATATTCCTTGATGACAGCACAGCCAGCCAGCATTATCTTACAATGACAATAATATC___TGTGACCTTGGAGATACCTCATCATATCACACAAAG|TCCTCATCTAGTGTCCACTTCTTAAGTAATCAGCTCTACCGCGGGG . 11BR058 ENSG00000172650.13 ENSG00000234580.1(113977),ENSG00000224812.3(77511) -/- ./- chr10:73680071 chr10:44716081 CDS/splice-site intergenic deletion 2 0 0 43 3 medium out-of-frame . . . . ENSG00000172650.13 . ENST00000581191.5 . upstream downstream . ^(GGGCATTCTGTGCCACATGCCTGGGCTCCCACCTGGGGCCAGTGGGCTTCAGTCTGTAGGTGACTACAGAAGGAGGAGGAGCTCCGTCTGTTCTCTCTTCAGGCAGTTGTTGTGTCTCTCAGCGCTTGTTGGGTTCACAACCTATTAAATAAGCCAGCTGGTCTTCACCCTCCCAGACAAGTCAACTCAGGGGAGGCAGCAGGGTGTGGGCCTTGACCCGCAGCCCTAGCCGGGGCCGGGGCCGGGGCCAGGGATGGTGCCCGGGGCCGCGCTGTGAGGTGGGCAGGCGAGGAGCGGGAAGACCATCTCTGCAAGTGCAGCATAGCCTCGGCCTAGGACAGTGGGAGTGTGTGGCCAAAGCTGTGAGCAGAGGCACAGGTGGTGGCAGACAGTAGAGGCGCCCCATGGGGAACATACTGACCTGTTGTGTGCACCCTAGCGTCAGCCTCGAGTTTGACCAGCAACAGGGGTCGGTGTGTCCCTCTGAATCTGAGATCTATGAGGCAGGAGCTGGGGACAGGATGGCAGGAGCGCCCATGGCTGCTGCTGTGCAGCCTGCTGAGGTGACCGTTGAAGTTGGTGAGGACCTCCACATGCACCACATTCGTGACCAGGAGATGCCTGAAG___CTTTGGAGTTTAGCCTTTCTGCCAATCCAGAGGCAAGCACAATATTCCAGAGGAACTCTCAAACAGA___AGCTTTGGAGTTTAACCCTTCTGCCAATCCAGAGGCAAGCACAATATTCCAGAGGAACTCTCAAACAGATG___TTGTAGAAATAAGAAGAAGCAACTGTACAAACCAT___GTATCTACTGAGCG)TTTCAGTCAACAATACAGCTCGTGTTCGACAATATTCCTTGATGACAGCACAGCCAGCCAGCATTATCTTACAATGACAATAATATC___TGTGACCTTGGAGATACCTCATCATATCACACAAAG|TCCTCATCTAGTGTCCACTTCTTAAGTAATCAGCTCTACCGCGGGG MGNILTCCVHPSVSLEFDQQQGSVCPSESEIYEAGAGDRMAGAPMAAAVQPAEVTVEVGEDLHMHHIRDQEMPEALEFSLSANPEASTIFQRNSQTEALEFNPSANPEASTIFQRNSQTDVVEIRRSNCTNHVSTERFSQQYSSCSTIFLDDSTASQHYLTMTIISVTLEIPHHITQs|phlvsts* 11BR058 ENSG00000172239.14 ENSG00000249266.1(120730),ENSG00000260786.1(99170) -/- ./- chr5:43543004 chr5:42089096 CDS/splice-site intergenic deletion 2 0 0 441 4 medium out-of-frame . Ataxin-2_C-terminal_region(100%),MIF4G_domain(100%)| . . ENSG00000172239.14 . ENST00000306846.8 . upstream downstream . ^(GGAAAGCCGAGGGTAGCCGAGCGGGGCGGGCGCTCTGGAGCGGCGGGTGCTCGGGCTGCCGTCCGCTCCGCCAGAAGCACCGAGCAGCCGAGCCGGGGCCCGCCGCCCTCCTCCTCCATGAGGCCCGAGTGAGGCGCGGCGGCTATAGCCGACCCGCGGCGCCTTCCCCCCGCGTCCTATCGCGAGCGCAGCGGCAGCGGCCCCTGGAGGAGGAGGCGGAGGAGGAGGAGCATGTCGGACGGTTTCGATCGGGCCCCAGGTGCTGGTCGGGGCCGGAGCCGGGGCCTGGGCCGCGGAGGGGGCGGGCCTGAGGGCGGCGGTTTCCCGAACGGAGCGGGGCCTGCTGAGCGGGCGCGGCACCAGCCGCCGCAACCCAAAGCCCCGGGCTTCCTGCAGCCACCGCCGCTGCGCCAGCCCAGGACGACCCCGCCGCCAGGGGCCCAGTGCGAGGTCCCCGCCAGCCCCCAGCGGCCTTCCCGGCCCGGGGCGCTCCCAG___AGCAAACGAGGCCCCTGAGAGCTCCACCTAGTTCACAGGATAAAATCCCACAGCAGAACTCGGAGTCAGCAATGGCTAAGCCCCAGGTGGTTGTAGCTCCTGTATTAATGTCTAAGCTGTCTGTGAATGCCCCTGAATTTTACCCTTCAGGTTATTCTTCCAGTTACACA___GAATCCTATGAGGATGGTTGTGAGGATTATCCTACTCTATCAGAATATGTTCAGGATTTTTTGAATCATCTTACAGAGCAGCCTGGCAGTTTTGAAACTGAAATTGAACAGTTTGCAGAGACCCTGAATGGTTGTGTTACAACAGATGATG)CTTTGCAAGAACTTGTGGAACTCATCTATCAACAG___GCCACATCTATCCCAAATaTCTCTTATATGGGAGCTCGCCTGTGTAATTACCTGTCCCATCATCTGACAATTAGCCCACAGAGTGGCAACTTCCGCCAATTGCTACTTCAAAG|AGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTCACATGATCTCGGCTAACTGCAACCTTCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTCAGGAGCTGGGACTACAGGTGCAGGCC MSDGFDRAPGAGRGRSRGLGRGGGGPEGGGFPNGAGPAERARHQPPQPKAPGFLQPPPLRQPRTTPPPGAQCEVPASPQRPSRPGALPEQTRPLRAPPSSQDKIPQQNSESAMAKPQVVVAPVLMSKLSVNAPEFYPSGYSSSYTESYEDGCEDYPTLSEYVQDFLNHLTEQPGSFETEIEQFAETLNGCVTTDDALQELVELIYQQATSIPNiSYMGARLCNYLSHHLTISPQSGNFRQLLLQr|dgvslccpgwsavt* 11BR059 ENSG00000148948.8 ENSG00000255279.1 -/- +/- chr11:41459431 chr11:41859859 5'UTR/splice-site exon duplication/5'-5' 5 24 0 24 75 high . . . . . ENSG00000148948.8 ENSG00000255279.1 ENST00000530763.5 . upstream downstream . ^(GGTATTTCGTACAGTAGGAGATTTCAACAACGTGACAATATTCTCTAGGCACTTGGGCTCACTGTCTGTAGCCCCCACCCCCCGCCTTTCGCCACCTCCTTGCTTCCCTACTCCCCCTTCTGCTTTTGCCTTTGATGAGTTTTTGGCTTACTTTTTGGCGGAGTCT)CTTGGACACGTTTTTGCTGGTGCTGGAAGATCAGATACATGGAACCTTTGAAAACTGATTATTTTTCTCCGATATGACTTAAAAAAAAATAAAAAGAAGAAAAGAAAATAGAGTAGTGCACGGCAAGCTAGAGGATTGTAAATTTTCCTTGGTGAACTTTGAGGATCCATAAAGAAG|GTTTTTGTTAGTCATCCCTGCTGTCGCTGGCCTGTGACCTTGGAAGGACTATTTGAGCAGCTTGAATGGAGTGATCAGCAGAAG___AAAGAAGAAATTTGAACACACAAAGGACAAGTGCAGAGACAGAGGGATGACCATGTGAGGACACG___GCAAAGAAGCCAACATAACACAGAGACTGAGACTCTGAGGAATGTGATATGGAGATGGAAAAATGGGG...___AGAACTCTTGTCCAAAGG . 11BR059 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 16 11 0 33 23 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismatches(2) TCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCC(ACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR059 ENSG00000009954.11 ENSG00000106077.18(12234),ENSG00000165215.6(17896) -/- ./- chr7:73459536 chr7:73751101 CDS/splice-site intergenic duplication 7 16 1 157 36 high out-of-frame . ATP-utilising_chromatin_assembly_and_remodelling_N-terminal(100%),WSTF__HB1__Itc1p__MBD9_motif_1(100%),Williams-Beuren_syndrome_DDT_(WSD)__D-TOX_E_motif(100%)| . . ENSG00000009954.11 . ENST00000339594.9 . upstream downstream mismappers(1) ^(AGTGTGTGCGTTGGCCGGGCCCGGGGGAGGAGGGGAATCTCCCGCCATTTTTCAATAATTTCCTCCGGTGCTGCTGAGGAGGAGTCGTGACTGCCGGCCGCCGGGACCCGAAGCGGAGGTCGGCGGGGGGCTGCTGGGAGGCGCGGCGGTGTGCGCGGGAGCTCTGCGCCGTGGCGTTCCGCTCCATGACTGTCGCGCGGCCGCGCCGGCGGTGAGGGAGCCGGAGTTCGCGCCGCCCTCTCACCCCTCCCTTCCCCCACCCCACCCCCGGGCGCCTGGCGCTCGCTCCGGGCCGCGGGGCCTAGTGCTGCGCCGCGGGGCCGGCCCCAGCAGCCGCCAGTCCCCACCGCCGCCGCCGCGATGGCGCCGCTCCTGGGCCGCAAGCCCTTCCCGCTGGTGAAGCCGTTGCCCGGAGAGGAGCCGCTCTTCACCATCCCGCACACTCAGGAGGCCTTCCGCACCCGGGA___AGAGTATGAAGCCCGCTTGGAAAGGTACAGTGAGCGCATTTGGACGTGCAAGAGTACTGGAAGCAGTCAGCTAACACACAAGGAAGCCTGGGAGGAAGAACAGGAAGTTGCTGAGCT___TTTGAAGGAGGAGTTTCCTGCCTGGTATGAGAAGCTTGTTCTGGAAATGGTTCACCATAACACAGCCTCCTTAGAGAAGTTAGTAGATACTGCTTGGTTGGAGATCATGACCAAATATGCTGTGGGAGAAGAGTGTGACTTCGAG___GTTGGGAAGGAGAAAATGCTCAAGGTGAAGATTGTGAAGATTCATCCTTTGGAGAAAGTGGATGAAGAGGCCACTGAGAAGAAATCTGATGGTGCCTGTGATTCTCCATCAAGTGACAAAGAGAACTCCAGTCAGATTGCTCAGGACCATCAGAAGAAGGAGACAGTTGTGAAAGAGGATGAAGGAAGGAGAGAGAGTATTA___ATGACAGAGCACGTAGATCGCCACGAAAACTTCCTACTTCATTAAAAAAAGGAGAAAGGAAATGGGCTCCTCCAAAATTTCTGCCTCACAAATATGATGTGAAACTACAAAATGAAGATAAG___ATCATCAGTAACGTGCCAGCAGACAGCTTGATTCGTACAGAGCGCCCACCAAATAAGGAGATAGTTCGATACTTTATACGGCATAATGCATTACGAGCTGGTACTGGTGAAAATGCACCTTGGGTCGTAGAAGATGAATTGGTGAAGAAATACTCTCTGCCCAGCAAGTTCAGTGACTTTTTACTTGATCCATACAAG___TATATGACTCTCAACCCTTCTACTAAGAGGAAGAATACTGGATCCCCAGACAGGAAGCCCTCAAAGAAATCCAAGACAGACAACTCTTCTCTTAGTTCACCACTAAATCCTAAGTTATGGTGTCACGTACACTTGAAGAAGTCATTGAGTGGCTCGCCACTCAAAGTGAAGAACTCAAAGAATTCCAAATCTCCTGAAGAACATCTAGAAGAAATGATGAAGATGATGTCGCCCAATAAGCTGCACACTAACTTTCACATTCCTAAAAAAGGCCCACCTGCCAAGAAACCAGGGAAGCACAGTGACAAGCCTTTGAAGGCAAAGGGCAGAAGCAAAGGCATCCTGAATGGACAGAAATCCACAGGGAATTCCAAATCTCCCAAAAAAGGACTGAAGACTCCTAAAACCAAAATGAAGCAGATGACTTTGTTGGATATGGCCAAAGGCACGCAGAAGATGACACGAGCCCCACGGAATTCTGGGGGTACACCTAGGACCTCTAGTAAACCTCATAAACATCTGCCTCCTGCAGCCCTACACCTCATTGCATACTACAAAGAAAACAAAGACAGGGAGGACAAGAGGAGCGCCCTGTCCTGTGTTATCTCCAAAACAGCTCGTCTTCTCTCTAGTGAAGATAGAGCTCGTCTCCCAGAAGAATTGCGAAGTCTTGTTCAAAAACGCTATGAACTTCTAGAGCACAAAAAGAGGTGGGCTTCTATGTCTGAAGAACAACGGAAAGAATATTTGAAAAAGAAACGGGAGGAGCTGAAAAAGAAGTTGAAGGAAAAAGCCAAAGAACGAAGAGAGAAAGAAATGCTTGAGAGATTAGAAAAACAGAAGCGGTATGAGGACCAAGAGTTAACTGGCAAAAACCTTCCAGCATTCAGATTGGTGGATACCCCTGAAGGGCTGCCCAACACGCTGTTTGGGGATGTGGCCATGGTGGTGGAATTCTTGAGCTGTTATTCTGGGCTACTTTTACCAGATGCTCAGTATCCTATTACTGCTGTGTCCCTTATGGAAGCCTTGAGTGCAGATAAGGGTGGCTTTTTATACCTTAACAGGGTGTTGGTCATCCTCTTACAGACCCTCCTACAAGATGAGATAGCAGAAGACTATGGTGAATTGGGAATGAAGCTGTCGGAAATCCCCTTGACTCTGCATTCTGTTTCAGAGCTGGTGCGGCTCTGCTTGCGCAGATCTGATGTTCAGGAGGAAAGCGAGGGCTCAGACACAGATGACAATAAAGATTCAGCTGCATTTGAGGATAATGAGGTACAAGATGAGTTCCTAGAAAAGCTGGAGACCTCTGAATTTTTTGAGCTGACGTCAGAGGAGAAGCTACAGATCTTGACAGCACTGTGCCACCGGATCCTCATGACATACTCAGTGCAAGACCACATGGAGACCAGACAGCAGATGTCTGCAGAGTTGTGGAAGGAACGGCTTGCTGTGTTGAAGGAAGAAAATGATAAGAAGAGAGCAGAGAAACAGAAACGGAAAGAAATGGAAGCCAAAAATAAAGAAAATGGAAAAGTTGAGAATGGGTTAGGCAAAACTGATAGGAAAAAAGAAATTGTGAAGTTTGAGCCCCAAGTAGATACAGAAGCTGAAGACATGATTAGTGCTGTGAAGAGCAGAAGGTTGCTTGCCATTCAAGCTAAGAAGGAACGGGAAATCCAGGAAAGAGAAATGAAAG___TGAAACTGGAACGCCAAGCTGAAGAAGAACGAATACGGAAGCACAAAGCAGCTGCTGAGAAAGCTTTCCAGGAAGGGATTGCCAAGGCCAAACTAGTCATGCGCAGGACTCCTATTGGCACAGATCGAAACCATAATAG___ATACTGGCTCTTCTCAGATGAAGTTCCAGGATTATTCATTGAAAAAGGCTGGGTACATGACAGCATTGACTACCGATTCAACCATCACTGCAAAGACCACACAGTCTCTGGTGATGAGGATTACTGTCCTCGCA___GTAAGAAAGCAAACTTAGGTAAAAATGCAAGCATGAACACACAACATGGAACAGCAACAGAAGTTGCTGTAGAGACAACCACACCCAAACAAGGACAGAACCTATG___GTTTTTATGTGATAGTCAAAAGGAGCTGGATGAGTTGCTAAACTGTCTTCACCCTCAGGGAATAAGAGAAAGTCAACTTAAAGAGAGACTAGAGAAGAG___GTACCAGGACATTATTCACTCTATTCATCTAGCACGGAAGCCAAATTTGGGTCTAAAATCTTGTGATGGCAACCAGGAGCTTTTAAACTTCCTTCGTAGTGATCTCATTGAAGTTGCAACAAGGTTACAAAAAGGAGGACTTGGATATGTGGAAGAAACATCAGAATTTGAAGCCCGG___)GTCATTTCATTAGAGAAATTGAAGGATTTTGGTGAGTGTGTGATTGCCCTTCAGGCCAGTGTCATAAAGAAATTTCTCCAAGGCTTCATGGCTCCCAAGCAAAAGAGAAGAAAACTCCAAAGTGAAGATTCAGCAAAAACTGAGGAAGTGGATGAAGAGAAGAAAATGGTAGAGGAAGCAAAG|GAAATGACCATCAGCCCTCTCAAAAAGTATGAAAGAACTGAAACTCACCAGATCATGGCATCTAGACAATGAAATGCCAGGCCCCTCATTCATCATGATTGCTTCCTTACCCTTCCCCCAAGTTCTTGTTTTCCCATACATGGTTACATTTGTTCCCTGCTATATAAGACCCTAACTTCAGTCGATCAGGGAGATGGATTTGAGACCAATCTCCCATCTCAGCCACAGCACC MAPLLGRKPFPLVKPLPGEEPLFTIPHTQEAFRTREEYEARLERYSERIWTCKSTGSSQLTHKEAWEEEQEVAELLKEEFPAWYEKLVLEMVHHNTASLEKLVDTAWLEIMTKYAVGEECDFEVGKEKMLKVKIVKIHPLEKVDEEATEKKSDGACDSPSSDKENSSQIAQDHQKKETVVKEDEGRRESINDRARRSPRKLPTSLKKGERKWAPPKFLPHKYDVKLQNEDKIISNVPADSLIRTERPPNKEIVRYFIRHNALRAGTGENAPWVVEDELVKKYSLPSKFSDFLLDPYKYMTLNPSTKRKNTGSPDRKPSKKSKTDNSSLSSPLNPKLWCHVHLKKSLSGSPLKVKNSKNSKSPEEHLEEMMKMMSPNKLHTNFHIPKKGPPAKKPGKHSDKPLKAKGRSKGILNGQKSTGNSKSPKKGLKTPKTKMKQMTLLDMAKGTQKMTRAPRNSGGTPRTSSKPHKHLPPAALHLIAYYKENKDREDKRSALSCVISKTARLLSSEDRARLPEELRSLVQKRYELLEHKKRWASMSEEQRKEYLKKKREELKKKLKEKAKERREKEMLERLEKQKRYEDQELTGKNLPAFRLVDTPEGLPNTLFGDVAMVVEFLSCYSGLLLPDAQYPITAVSLMEALSADKGGFLYLNRVLVILLQTLLQDEIAEDYGELGMKLSEIPLTLHSVSELVRLCLRRSDVQEESEGSDTDDNKDSAAFEDNEVQDEFLEKLETSEFFELTSEEKLQILTALCHRILMTYSVQDHMETRQQMSAELWKERLAVLKEENDKKRAEKQKRKEMEAKNKENGKVENGLGKTDRKKEIVKFEPQVDTEAEDMISAVKSRRLLAIQAKKEREIQEREMKVKLERQAEEERIRKHKAAAEKAFQEGIAKAKLVMRRTPIGTDRNHNRYWLFSDEVPGLFIEKGWVHDSIDYRFNHHCKDHTVSGDEDYCPRSKKANLGKNASMNTQHGTATEVAVETTTPKQGQNLWFLCDSQKELDELLNCLHPQGIRESQLKERLEKRYQDIIHSIHLARKPNLGLKSCDGNQELLNFLRSDLIEVATRLQKGGLGYVEETSEFEARVISLEKLKDFGECVIALQASVIKKFLQGFMAPKQKRRKLQSEDSAKTEEVDEEKKMVEEAK|emtisplkkyertethqimasrq* 11BR059 ENSG00000082258.13 ENSG00000078098.14 +/+ -/+ chr2:134942674 chr2:162220835 CDS/splice-site intron deletion/5'-5' 6 14 1 169 41 high out-of-frame . Cyclin__N-terminal_domain(100%)| . . ENSG00000082258.13 ENSG00000078098.14 ENST00000264157.10 . downstream upstream duplicates(2),mismatches(2) ^(GTGAATGAAGGAGCGGGCGGAGGAGGAAGTGTCATGGCGTCGGGCCGTGGAGCTTCTTCTCGCTGGTTCTTTACTCGGGAACAGCTGGAGAACACGCCGAGCCGCCGCTGCGGAGTGGAGGCGGATAAAGAGCTCTCGTGCCGCCAGCAGGCGGCCAACCTCATCCAGGAGATGGGACAGCGTCTCAATGT___CTCTCAGCTTACAATAAACACTGCGATTGTTTATATGCACAGGTTTTATATGCACCATTCTTTCACCAAATTCAACAAAAAT___ATAATATCGTCTACTGCATTATTTTTGGCTGCAA)AAGTGGAAGAACAGGCTCGAAAACTTGAACATGTTATCAAAGTAGCACATGCTTGTCTTCATCCTCTAGAGCCACTGCTGGATACTAAATGTGAT___GCTTACCTTCAACAGACTCAAGAACTGGTTATACTTGAAACCATAATGCTACAAACTCTAG___GTTTTGAGATCACCATTGAACACCCACACACAGATGTGGTGAAATGTACCCAGTTAGTAAGAG|ATTGTATTAACAGTTTCATCGAGACTGCCTTCGTGGGAAAGCAGAGCAAGACCTGCCGCCCAAGCACAATTTGAAGAGCCTCAAAAAAGACTCCTGCCCAACCCCTCCAAAAAAAGCTCTCCAACCTGGAGCTAACATGTGCCTGACATTTCTGCCTTTCCC MASGRGASSRWFFTREQLENTPSRRCGVEADKELSCRQQAANLIQEMGQRLNVSQLTINTAIVYMHRFYMHHSFTKFNKNIISSTALFLAAKVEEQARKLEHVIKVAHACLHPLEPLLDTKCDAYLQQTQELVILETIMLQTLGFEITIEHPHTDVVKCTQLVR|dcinsfietafvgkqsktcrpsti* 11BR059 ENSG00000131013.4 ENSG00000131019.11(68408),ENSG00000198729.5(5515) -/- ./- chr6:149512155 chr6:150137529 CDS/splice-site intergenic duplication 15 5 1 724 13 high out-of-frame . Cyclophilin_type_peptidyl-prolyl_cis-trans_isomerase/CLD(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000131013.4 . ENST00000253329.3 . upstream downstream duplicates(1) ^(CTCCTCCCGGGGTTTGTAGCGGAGGAGGAGCGGGCGCCATGGCGGTTCTACTGGAGACCACTTTAGGCGACGTCGTCATCGACTTGTACACCGAAGAACGGCCGCGTG___CCTGCTTGAATTTCTTGAAACTGTGCAAAATAAAATATTACAATTATTGCCTTATTCACAATGTACAG___AGGGATTTTATCATACAAACTGGCGATCCTACAGGGACTGGCCGTGGAGGAGAGTCTATCTTTGG___CCAACTGTATGGTGATCAAGCAAGCTTTTTTGAGGCAGAAAAAGTCCCAAGAATTAAGCACAAGAAGAAAGGCACAGTGTCCATGGTGAATAATGGCAGTGATCAACATGGATCTCAG___TTTCTTATCACCACAGGAGAAAATCTAGATTATCTTGATGGTGTCCATACGGTGTTTGGTGAGGTGACAGAAGGCATGGACATAATTAAGAAAATTAATGAGACCTTTGTTGACAAGGACTTTGTACCATATCAGGATATCAG___GATAAATCATACGGTGATTTTAGATGATCCATTTGATGACCCTCCTGATTTATTAATCCCTGATCGATCACCAGAACCTACAAGGGAACAATTAGAT___AGTGGTCGAATAGGAGCAGATGAAGAAATTGATGATTTCAAAGGAAGATCAGCTGAGGAAGTAGAAGAAATAAAGGCAGAAAAAGAGGCTAAAACTCAGGCTATACTTTTGGAGATG___GTGGGAGACCTACCTGATGCAGATATTAAACCTCCAGAAAATGTACTGTTTGTGTGTAAATTGAACCCAGTGACCACAGATGAGGATCTGGAAATAATATTCTCTAGATTTGGGCCAATAAGAAG___TTGTGAAGTTATCCGAGACTGGAAGACAGGAGAGTCCCTCTGTTACGCTTTTATTGAATTTGAAAAG___GAAGAAGATTGTGAGAAAGCATTCTTCAAAATGGACAATGTGCTTATAGATGACAGAAGAATACATGTGGATTTTAGCCAGTCGGTTGCAAAGGTTAAATGGAAAGGAAAAG___GTGGGA)AATACACCAAGAGTGATTTCAAGGAGTATGAAAAAGAACAGGATAAACCACCTAATTTGGTTCTGAAAGATAAAGTAAAGCCCAAACAGGA___TACAAAATACGATCTTATATTAGATGAGCAGGCCGAAGACTCAAAATCAAGTCACTCACACACAAGTAAAAAACACAAGAAGAAAACCCATCACTGTTCTGAAGAGAAAGAAGATGAGGACTACATGCCAATCAAAAATACTAATCAG|GGTCTTGCTTTGTCACCTAATCTGGAGTACAGTGGCTTGATCATAGCCCACTGCAGCCTCTAACTCCCAGGCTAAAGTGATCCTCCACCTCCCAGCCTCCCAAAGTGCTAGAAGATGCAGGCCACAATGCCTGGCTAAATTTTTTGTTTTGTAGTTTTTGCTTTTTGCTTTTAGTAGAGATAGGGTCTCCCTATAATGCCCAGGCTGGTCTGGAACTTCTGGACTCAAGCAATTCTCCTACCTCGG MAVLLETTLGDVVIDLYTEERPRACLNFLKLCKIKYYNYCLIHNVQRDFIIQTGDPTGTGRGGESIFGQLYGDQASFFEAEKVPRIKHKKKGTVSMVNNGSDQHGSQFLITTGENLDYLDGVHTVFGEVTEGMDIIKKINETFVDKDFVPYQDIRINHTVILDDPFDDPPDLLIPDRSPEPTREQLDSGRIGADEEIDDFKGRSAEEVEEIKAEKEAKTQAILLEMVGDLPDADIKPPENVLFVCKLNPVTTDEDLEIIFSRFGPIRSCEVIRDWKTGESLCYAFIEFEKEEDCEKAFFKMDNVLIDDRRIHVDFSQSVAKVKWKGKGGKYTKSDFKEYEKEQDKPPNLVLKDKVKPKQDTKYDLILDEQAEDSKSSHSHTSKKHKKKTHHCSEEKEDEDYMPIKNTNQ|glalspnleysgliiahcsl* 11BR059 ENSG00000138835.22 ENSG00000227482.1(74932),ENSG00000214669.3(1207) +/+ ./- chr9:113505523 chr9:113757787 CDS/splice-site intergenic inversion 18 1 0 39 9 high out-of-frame . C2_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%)| . . ENSG00000138835.22 . ENST00000374140.6 . downstream downstream duplicates(2),mismatches(1) ^(AACTTTGGCTCAGCCTGTCTTCATCCACTGTATCCTGACACCTCTCCTACTCCTTCTCTTTAATGTACAGCTGAGACTGGGATACCCTTAGACTGAAAGGAAGGACACGGCTATGTAGAAAAGAATTGACTGAAGGGGAGGAGTACTCGTGAACCCCTTGCTTCAGCCTCCCAATGTTCTGAGAGAGGAGGAGCCAG___GCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGATGGGCAGATCGCAAGGTCAGGAGATCGAGACCATCCTGGCTAACAG___GTCACATTCAGACAGCACACCTTTGCCCAATTTTCTTTCTGGATCTCACCGTCCTGAGTGTTGTACCTGCAGGTTGCTCACAGCCTCTGGAGCCCAAGATAGTCTCCCCTTTGGGAGGAGGCTCTACAGTGGTCCCTGGCGAAGTTGTGAAGAG___GTCTGCCACGTCTCTGTGCTCAGTGTCCTCTCTACATCCTGTGGCTTGAGCCTGAGCTTGCCCATATTCCCTGGCTGGATGGAGTGGCTAAGCCCTGATATCGCTCTGCCCAGAAGAGATGAGTGGACTCAAACTTCTCCAGCCAGGAAGAGGATCACGCATGCCAAAGTCCAGGGTGCAG___GTCAGCTGAGGCTGTCCATTGATGCCCAGGACCGGGTTCTGCTGCTTCACA___TTATAGAAGGTAAAGGCCTGATCAGCAAACAGCCTGGCACCTGTGATCCGTATGTGAAG___ATTTCTTTGATCCCTGAAGATAGTAGACTACGCCACCAGAAGACGCAGACCGTTCCAGACTGCAGAGACCCGGCTTTCCACGAGCACTTCTTCTT___TCCTGTCCAAGAGGAGGATGATCAGAAGCGTCTCTTGGTTACTGTGTGGAACAGGGCCAGCCAGTCCAG___ACAGAGTGGACTCATTGGCTGCATGAGCTTTGGGGTGAAGTCTCTCCTGACTCCAGACAAG___GAGATCAGTGGTTGGTACTACCTCCTAGGGGAGCACCTGGGCCGGAC)CAAGCACTTGAAGGTGGCCAGGCGGCGACTGCGGCCGCTGAGAG___ACCCGCTGCTGAGAATGCCAGGAGGTGGGGACACTGAGAATGGGAAGAAACTAAAG___ATCACCATCCCGAGGGGAAAGGACGGCTTTGGCTTCACCATCTGCTGCGACTCTCCAGTTCGAGTCCAGGCCGTGGATTCCG|TATTTACAAGATGCTCCAGGACACAGCAGGAAGGTGTCATCTGTGAGTCAGAAAATGGGCCCTGACCAGACATTGAATCTGCCCTGATCTTGGCCTTCCCAGCCTCCGGAACTGTGAG MPVIPALWEVEMGRSQGQEIETILANRSHSDSTPLPNFLSGSHRPECCTCRLLTASGAQDSLPFGRRLYSGPWRSCEEVCHVSVLSVLSTSCGLSLSLPIFPGWMEWLSPDIALPRRDEWTQTSPARKRITHAKVQGAGQLRLSIDAQDRVLLLHIIEGKGLISKQPGTCDPYVKISLIPEDSRLRHQKTQTVPDCRDPAFHEHFFFPVQEEDDQKRLLVTVWNRASQSRQSGLIGCMSFGVKSLLTPDKEISGWYYLLGEHLGRTKHLKVARRRLRPLRDPLLRMPGGGDTENGKKLKITIPRGKDGFGFTICCDSPVRVQAVDS|vftrcsrtqqegvicesengp* 11BR059 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 6 13 0 28 30 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1),mismappers(2) AGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAG(TCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11BR059 ENSG00000120262.10(35570),ENSG00000091831.23(33733) ENSG00000091831.23 ./+ +/+ chr6:151656763 chr6:151701875 intergenic 5'UTR/splice-site deletion/read-through 8 9 0 25 70 high . . |Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Oestrogen-type_nuclear_receptor_final_C-terminal_(100%),Oestrogen_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%) . . . ENSG00000091831.23 . ENST00000440973.5 downstream upstream . GAATTAATTGGATCACCTCGAAGGAGGAAAGAGAAGCTCAAAGAGATCAG___ATTCTAAGGTTCCAAGCAGTCAGAGAAATAATCGCAGAGCCTCAAATATCTCCAAAATCTGATACCAATCCTTTTGATTGTGAATTATATTCTGTAGCTACCAAAGAAG|GAAGAAGAAAACTAGGAAGGAGTAAGCACAAAGATCTCTTCACATTCTCCGGGACTGCGGTACCAAATATCAGCACAGCACTTCTTGAAAAAGGATGTAGATTTTAATCTGAACTTTGAACCATCACTGAG(___GTGGCCCGCCGGTTTCTGAGCCTTCTGCCCTGCGGGGACACGGTCTGCACCCTGCCCGCGGCCACGGACCATGACCATGACCCTCCACACCAAAGCATCTGGGATGGCCCTACTGCATCAGATCCAAGGGAACGAGCTGGAGCCCCTGAACCGTCCGCAGCTCAAGATCCCCCTGGAGCGGCCCCTGGGCGAGGTGTACCTGGACAGCAGCAAGCCCGCCGTGTACAACTACCCCGAGGGCGCCGCCTACGAGTTCAACGCCGCGGCCGCCGCCAACGCGCAGGTCTACGGTCAGACCGGCCTCCCCTACGGCCCCGGGTCTGAGGCTGCGGCGTTCGGCTCCAACGGCCTGGGGGGTTTCCCCCCACTCAACAGCGTGTCTCCGAGCCCGCTGATGCTACTGCACCCGCCGCCGCAGCTGTCGCCTTTCCTGCAGCCCCACGGCCAGCAGGTGCCCTACTACCTGGAGAACGAGCCCAGCGGCTACACGGTGCGCGAGGCCGGCCCGCCGGCATTCTACAG___GCCAAATTCAGATAATCGACGCCAGGGTGGCAGAGAAAGATTGGCCAGTACCAATGACAAGGGAAGTATGGCTATGGAATCTGCCAAGGAGACTCGCTACTGTGCAGTGTGCAATGACTATGCTTCAGGCTACCATTATGGAGTCTGGTCCTGTGAGGGCTGCAAGGCCTTCTTCAAGAGAAGTATTCAAG___GACATAACGACTATATGTGTCCAGCCACCAACCAGTGCACCATTGATAAAAACAGGAGGAAGAGCTGCCAGGCCTGCCGGCTCCGTAAATGCTACGAAGTGGGAATGATGAAAGGTG___GGATACGAAAAGACCGAAGAGGAGGGAGAATGTTGAAACACAAGCGCCAGAGAGATGATGGGGAGGGCAGGGGTGAAGTGGGGTCTGCTGGAGACATGAGAGCTGCCAACCTTTGGCCAAGCCCGCTCATGATCAAACGCTCTAAGAAGAACAGCCTGGCCTTGTCCCTGACGGCCGACCAGATGGTCAGTGCCTTGTTGGATGCTGAGCCCCCGATACTCTATTCCGAGTATGATCCTACCAGACCCTTCAGTGAAGCTTCGATGATGGGCTTACTGACCAACCTGGCAGACAGGGAGCTGGTTCACATGATCAACTGGGCGAAGAGGGTGCCAG___GCTTTGTGGATTTGACCCTCCATGATCAGGTCCACCTTCTAGAATGTGCCTGGCTAGAGATCCTGATGATTGGTCTCGTCTGGCGCTCCATGGAGCACCCAGGGAAGCTACTGTTTGCTCCTAACTTGCTCTTGGACAG___GAACCAGGGAAAATGTGTAGAGGGCATGGTGGAGATCTTCGACATGCTGCTGGCTACATCATCTCGGTTCCGCATGATGAATCTGCAGGGAGAGGAGTTTGTGTGCCTCAAATCTATTATTTTGCTTAATTCTG___GAGTGTACACATTTCTGTCCAGCACCCTGAAGTCTCTGGAAGAGAAGGACCATATCCACCGAGTCCTGGACAAGATCACAGACACTTTGATCCACCTGATGGCCAAGGCAGGCCTGACCCTGCAGCAGCAGCACCAGCGGCTGGCCCAGCTCCTCCTCATCCTCTCCCACATCAGGCACATGAG___TAACAAAGGCATGGAGCATCTGTACAGCATGAAGTGCAAGAACGTGGTGCCCCTCTATGACCTGCTGCTGGAGATGCTGGACGCCCACCGCCTACATGCGCCCACTAGCCGTGGAGGGGCATCCGTGGAGGAGACGGACCAAAGCCACTTGGCCACTGCGGGCTCTACTTCATCGCATTCCTTGCAAAAGTATTACATCACGGGGGAGGCAGAGGGTTTCCCTGCCACGGTCTGAGAGCTCCCTGGCTCCCACACGGTTCAGATAATCCCTGCTGCATTTTACCCTCATCATGCACCACTTTAGCCAAATTCTGTCTCCTGCATACACTCCGGCATGCATCCAACACCAATGGCTTTCTAGATGAGTGGCCATTCATTTGCTTGCTCAGTTCTTAGTGGCACATCTTCTGTCTTCTGTTGGGAACAGCCAAAGGGATTCCAAGGCTAAATCTTTGTAACAGCTCTCTTTCCCCCTTGCTATGTTACTAAGCGTGAGGATTCCCGTAGCTCTTCACAGCTGAACTCAGTCTATGGGTTGGGGCTCAGATAACTCTGTGCATTTAAGCTACTTGTAGAGACCCAGGCCTGGAGAGTAGACATTTTGCCTCTGATAAGCACTTTTTAAATGGCTCTAAGAATAAGCCACAGCAAAGAATTTAAAGTGGCTCCTTTAATTGGTGACTTGGAGAAAGCTAGGTCAAGGGTTTATTATAGCACCCTCTTGTATTCCTATGGCAATGCATCCTTTTATGAAAGTGGTACACCTTAAAGCTTTTATATGACTGTAGCAGAGTATCTGGTGATTGTCAATTCATTCCCCCTATAGGAATACAAGGGGCACACAGGGAAGGCAGATCCCCTAGTTGGCAAGACTATTTTAACTTGATACACTGCAGATTCAGATGTGCTGAAAGCTCTGCCTCTGGCTTTCCGGTCATGGGTTCCAGTTAATTCATGCCTCCCATGGACCTATGGAGAGCAGCAAGTTGATCTTAGTTAAGTCTCCCTATATGAGGGATAAGTTCCTGATTTTTGTTTTTATTTTTGTGTTACAAAAGAAAGCCCTCCCTCCCTGAACTTGCAGTAAGGTCAGCTTCAGGACCTGTTCCAGTGGGCACTGTACTTGGATCTTCCCGGCGTGTGTGTGCCTTACACAGGGGTGAACTGTTCACTGTGGTGATGCATGATGAGGGTAAATGGTAGTTGAAAGGAGCAGGGGCCCTGGTGTTGCATTTAGCCCTGGGGCATGGAGCTGAACAGTACTTGTGCAGGATTGTTGTGGCTACTAGAGAACAAGAGGGAAAGTAGGGCAGAAACTGGATACAGTTCTGAGGCACAGCCAGACTTGCTCAGGGTGGCCCTGCCACAGGCTGCAGCTACCTAGGAACATTCCTTGCAGACCCCGCATTGCCCTTTGGGGGTGCCCTGGGATCCCTGGGGTAGTCCAGCTCTTCTTCATTTCCCAGCGTGGCCCTGGTTGGAAGAAGCAGCTGTCACAGCTGCTGTAGACAGCTGTGTTCCTACAATTGGCCCAGCACCCTGGGGCACGGGAGAAGGGTGGGGACCGTTGCTGTCACTACTCAGGCTGACTGGGGCCTGGTCAGATTACGTATGCCCTTGGTGGTTTAGAGATAATCCAAAATCAGGGTTTGGTTTGGGGAAGAAAATCCTCCCCCTTCCTCCCCCGCCCCGTTCCCTACCGCCTCCACTCCTGCCAGCTCATTTCCTTCAATTTCCTTTGACCTATAGGCTAAAAAAGAAAGGCTCATTCCAGCCACAGGGCAGCCTTCCCTGGGCCTTTGCTTCTCTAGCACAATTATGGGTTACTTCCTTTTTCTTAACAAAAAAGAATGTTTGATTTCCTCTGGGTGACCTTATTGTCTGTAATTGAAACCCTATTGAGAGGTGATGTCTGTGTTAGCCAATGACCCAGGTGAGCTGCTCGGGCTTCTCTTGGTATGTCTTGTTTGGAAAAGTGGATTTCATTCATTTCTGATTGTCCAGTTAAGTGATCACCAAAGGACTGAGAATCTGGGAGGGCAAAAAAAAAAAAAAAGTTTTTATGTGCACTTAAATTTGGGGACAATTTTATGTATCTGTGTTAAGGATATGTTTAAGAACATAATTCTTTTGTTGCTGTTTGTTTAAGAAGCACCTTAGTTTGTTTAAGAAGCACCTTATATAGTATAATATATATTTTTTTGAAATTACATTGCTTGTTTATCAGACAATTGAATGTAGTAATTCTGTTCTGGATTTAATTTGACTGGGTTAACATGCAAAAACCAAGGAAAAATATTTAGTTTTTTTTTTTTTTTTTGTATACTTTTCAAGCTACCTTGTCATGTATACAGTCATTTATGCCTAAAGCCTGGTGATTATTCATTTAAATGAAGATCACATTTCATATCAACTTTTGTATCCACAGTAGACAAAATAGCACTAATCCAGATGCCTATTGTTGGATACTGAATGACAGACAATCTTATGTAGCAAAGATTATGCCTGAAAAGGAAAATTATTCAGGGCAGCTAATTTTGCTTTTACCAAAATATCAGTAGTAATATTTTTGGACAGTAGCTAATGGGTCAGTGGGTTCTTTTTAATGTTTATACTTAGATTTTCTTTTAAAAAAATTAAAATAAAACAAAAAAAAATTTCTAGGACTAGACGATGTAATACCAGCTAAAGCCAAACAATTATACAGTGGAAGGTTTTACATTATTCATCCAATGTGTTTCTATTCATGTTAAGATACTACTACATTTGAAGTGGGCAGAGAACATCAGATGATTGAAATGTTCGCCCAGGGGTCTCCAGCAACTTTGGAAATCTCTTTGTATTTTTACTTGAAGTGCCACTAATGGACAGCAGATATTTTCTGGCTGATGTTGGTATTGGGTGTAGGAACATGATTTAAAAAAAAACTCTTGCCTCTGCTTTCCCCCACTCTGAGGCAAGTTAAAATGTAAAAGATGTGATTTATCTGGGGGGCTCAGGTATGGTGGGGAAGTGGATTCAGGAATCTGGGGAATGGCAAATATATTAAGAAGAGTATTGAAAGTATTTGGAGGAAAATGGTTAATTCTGGGTGTGCACCAGGGTTCAGTAGAGTCCACTTCTGCCCTGGAGACCACAAATCAACTAGCTCCATTTACAGCCATTTCTAAAATGGCAGCTTCAGTTCTAGAGAAGAAAGAACAACATCAGCAGTAAAGTCCATGGAATAGCTAGTGGTCTGTGTTTCTTTTCGCCATTGCCTAGCTTGCCGTAATGATTCTATAATGCCATCATGCAGCAATTATGAGAGGCTAGGTCATCCAAAGAGAAGACCCTATCAATGTAGGTTGCAAAATCTAACCCCTAAGGAAGTGCAGTCTTTGATTTGATTTCCCTAGTAACCTTGCAGATATGTTTAACCAAGCCATAGCCCATGCCTTTTGAGGGCTGAACAAATAAGGGACTTACTGATAATTTACTTTTGATCACATTAAGGTGTTCTCACCTTGAAATCTTATACACTGAAATGGCCATTGATTTAGGCCACTGGCTTAGAGTACTCCTTCCCCTGCATGACACTGATTACAAATACTTTCCTATTCATACTTTCCAATTATGAGATGGACTGTGGGTACTGGGAGTGATCACTAACACCATAGTAATGTCTAATATTCACAGGCAGATCTGCTTGGGGAAGCTAGTTATGTGAAAGGCAAATAGAGTCATACAGTAGCTCAAAAGGCAACCATAATTCTCTTTGGTGCAGGTCTTGGGAGCGTGATCTAGATTACACTGCACCATTCCCAAGTTAATCCCCTGAAAACTTACTCTCAACTGGAGCAAATGAACTTTGGTCCCAAATATCCATCTTTTCAGTAGCGTTAATTATGCTCTGTTTCCAACTGCATTTCCTTTCCAATTGAATTAAAGTGTGGCCTCGTTTTTAGTCATTTAAAATTGTTTTCTAAGTAATTGCTGCCTCTATTATGGCACTTCAATTTTGCACTGTCTTTTGAGATTCAAGAAAAATTTCTATTCTTTTTTTTGCATCCAATTGTGCCTGAACTTTTAAAATATGTAAATGCTGCCATGTTCCAAACCCATCGTCAGTGTGTGTGTTTAGAGCTGTGCACCCTAGAAACAACATATTGTCCCATGAGCAGGTGCCTGAGACACAGACCCCTTTGCATTCACAGAGAGGTCATTGGTTATAGAGACTTGAATTAATAAGTGACATTATGCCAGTTTCTGTTCTCTCACAGGTGATAAACAATGCTTTTTGTGCACTACATACTCTTCAGTGTAGAGCTCTTGTTTTATGGGAAAAGGCTCAAATGCCAAATTGTGTTTGATGGATTAATATGCCCTTTTGCCGATGCATACTATTACTGATGTGACTCGGTTTTGTCGCAGCTTTGCTTTGTTTAATGAAACACACTTGTAAACCTCTTTTGCACTTTGAAAAAGAATCCAGCGGGATGCTCGAGCACCTGTAAACAATTTTCTCAACCTATTTGATGTTCAAATAAAGAATTAAACTAAA)$ . 11BR059 ENSG00000106948.16 ENSG00000131018.24 -/- -/- chr9:114376466 chr6:152156097 CDS/splice-site CDS/splice-site translocation 14 2 0 54 83 high in-frame . |Nuclear_envelope_localisation_domain(100%),Spectrin_repeat(100%) . . ENSG00000106948.16 ENSG00000131018.24 ENST00000307564.8 ENST00000341594.9 upstream downstream inconsistently_clipped(1),mismatches(1) ^(GCAACTGAAGACGGAGGTGCCCAAGGTCAGAAGGAAGCACCACACAGAG___GGCACAGGCAGGATGGCCGATGCTGACAGGAACCAGCGGTGACTCTGGGGCCCCTGGCAGCAGCTCTGTCTCCTGAAGATGAAGTGGCCCAGGTGAAGCCCAGGCCAGCCCCAATGGCCAGCTCGGAGACTGAGATCCGCTGGGCTGAGCCTGGCCTGGGGAAGGGCCCCCAGCGGCGGCGCTGGGCCTGGGCCGAGGACAAGAGGGATGTGGATAGAAGTAGTTCACAAAGCTGGGAAGAAGAGAGACTCTTTCCCAATGCCACCAGCCCCGAGCTCCTAGAGGACTTCCGCCTGGCCCAGCAGCACCTGCCGCCCCTGGAGTGGGACCCACACCCGCAGCCCGATGGGCATCAGGATTCCGAGTCAGGAGAGACTTCGGGAGAAG___AGGCTGAAGCAGAGGATGTGGACAGCCCAGCAAGTTCCCATGAGCCTCTTGCCTGGCTCCCCCAGCAGGGCCGTCAGCTGGACATGACTGAAGAGGAGCCAGATGGGACCCTCGGAAGTCTGGAGGTTGAGGAGGCTGGAGAGAGCTCCTCAAGGTTGGGGTATGAGGCTGGTCTCAGCTTGGAAGGCCATGGAAACACCAGCCCCATGGCTCTTGGGCATGGTCAGGCCAGGGGCTGGGTGGCTTCTGGCGAACAAGCCAGTGGGGACAAACTTTCTGAACATTCCGAGGTCAACCCATCCGTTGAACTCAGCCCGGCAAGGTCCTGGAGCAGTGGGACAGTGAGCCTCGACCACCCTAGTGACAGCCTTGATTCTACCTGGGAAGGAGAGACCGATGGCCCCCAGCCCACTGCCCTGGCAGAAACCTTGCCAGAGGGCCCCAGCCACCACCTCCTAAGCCCAGATGGCAGAACTGGAGGCAGTGTTGCTCGGGCAACCCCCATGGAATTCCAGGACTCCTCAGCTCCCCCAGCCCAGAGTCCGCAGCATGCCACAGATAGATGGAGGAGAGAAACGACCAGATTCTTCTGCCCTCAGCCCAAGGAACACATCTGGAAGCAGACAAAGACGTCACCTAAGCCACTCCCTTCCCGATTCATTGGCTCCATCAGCCCCCTGAATCCCCAGCCCAGGCCAACGCGGCAGGGCAGGCCGCTGCCCAGACAGGGAGCCACTCTGGCTGGCCGCTCCTCTTCTAATGCCCCCAAGTATGGCCGGGGGCAGTTGAACTACCCACTCCCTGATTTCTCCAAGGTAGGGCCCCGGGTGAGATTCCCCAAAGATGAGAGCTACCGTCCCCCCAA)GTCCAGAAGCCACAACAGGAAGCCTCAGGCCCCTGCCAGGCCCCTCATCTTCAAGTCTCCAGCTGAGATTGTGCAGGAGGTGCTGTTGAGCAGTGGAGAAGCAGCCCTGGCAAAGGACACGCCTCCTGCCCACCCTATCACCAGGGTACCCCAAGAATTTCAGACGCCTGAGCAAGCCACTGAGCTGGTCCATCAGCTCCAG|GAGCTTCAGAGAGACATAGAGAAGCACAGTACAGGTGTTGCATCTGTCCTCAACCTGTGTGAAGTCCTGCTGCACGACTGTGACGCCTGTGCCACTGATGCCGAGTGTGACTCTATACAGCAGGCTACGAGAAACCTGGACCGGCGGTGGAGAAACATTTGTGCTATGTCCATGGAAAGGAGGC(TGAA___AATCGAAGAGACGTGGCGATTGTGGCAGAAATTTCTGGATGACTATTCACGTTTTGAAGATTGGCTGAAGTCTTCAGAAAGGACAGCTGCTTTTCCCAGCTCTTCTGGGGTGATCTATACAGTTGCCAAGGAAGAACTAAAGAAATTTGAG___GCTTTCCAGCGACAGGTCCACGAGTGCCTGACGCAGCTGGAACTGATCAACAAGCAGTACCGCCGCCTGGCCAGGGAGAACCGCACTGATTCAGCATGTAGCCTCAAACAGATGGTTCACGAAGGCAACCAGAGATGGGACAACCTGCAAAAGCGTGTCACCTCCATCTTGCGCAGACTCAAG___CATTTTATTGGCCAGCGTGAGGAGTTTGAGACTGCGCGGGACAGCATTCTGGTCTGGCTCACAGAGATGGATCTGCAGCTCACTAATATTGAACATTTTTCTGAGTGTGATGTTCAAGCTAAAATAAAGCAACTCAAG___GCCTTCCAGCAGGAAATTTCACTGAACCACAATAAGATTGAGCAGATAATTGCCCAAGGAGAACAGCTGATAGAAAAGAGTGAGCCCTTGGATGCAGCGATCATCGAGGAGGAACTAGATGAGCTCCGACGGTACTGCCAGGAGGTCTTCGGGCGTGTGGAAAGATACCATAAGAAACTGATCCGCCTGCCT___CTCCCAGACGATGAGCACGACCTCTCAGACAGGGAGCTGGAGCTGGAAGACTCTGCAGCTCTGTCGGACCTGCACTGGCACGACCGCTCTGCAGACAGCCTGCTTTCTCCACAGCCTTCCTCCAATCTCTCCCTCTCGCTCGCTCAGCCCCTCCGGAGCGAGCGGTCAGGACGAGACACCCCGGCTAGTGTGGACTCCATCCCCCTGGAGTGGGATCACGACTATGACCTCAGTCGGGACCTGGAGTCTGCAATGTCCAGAGCTCTGCCCTCTGAGGATGAAGAAGGTCAGGATGACAAAGATTTCTACCTCCGGGGAGCTGTTGGCTTATCAG___GGGACCACAGTGCCCTAGAGTCACAGATCCGACAACTGGGCAAAGCCCTGGATGATAGCCGTTTTCAGATACAGCAAACCGAAAATATCATTCGCAGCAAAACTCCCACGGGGCCGGAGCTAGACACCAGCTACAAAGGCTAC___ATGAAACTGCTGGGCGAATGCAGTAGCAGTATAGACTCCGTGAAGAGACTGGAGCACAAACTGAAGGAGGAAGAGGAGAGCCTTCCTGGCTTTGTTAACCTGCATAGTACCGAAACCCAAACGGCTG___GTGTGATTGACCGATGGGAGCTTCTCCAGGCCCAGGCATTGAGCAAGGAGTTGAGGATGAAGCAGAACCTCCAGAAGTGGCAGCAGTTTAACTCAGACTTGAACAGCATCTGGGCCTGGCTGGGGGACACGGAGGAGGAGTTGGAACAGCTCCAGCGTCTGGAACTCAGCACTGACATCCAGACCATCGAGCTCCAGATCAAAAAGCTCAAG___GAGCTCCAGAAAGCTGTGGACCACCGCAAAGCCATCATCCTCTCCATCAATCTCTGCAGCCCTGAGTTCACCCAGGCTGACAGCAAGGAGAGCCGGGACCTGCAGGATCGCTTGTCGCAGATGAATGGGCGCTGGGACCGAGTGTGCTCTCTGCTGGAGGAGTGGCGGGGCCTGCTGCAGGATGCCCTGATGCAGTGCCAG___GGTTTCCATGAAATGAGCCATGGTTTGCTTCTTATGCTGGAGAACATTGACAGAAGGAAAAATGAAATTGTCCCTATTGATTCTAACCTTGATGCAGAGATACTTCAGGACCATCACAAACAGCTTATG___CAAATAAAGCATGAGCTGTTGGAATCCCAACTCAGAGTAGCCTCTTTGCAAGACATGTCTTGCCAACTACTGGTGAATGCTGAAGGAACAGACTGTTTAGAAGCCAAAGAAAAAGTCCATGTTATTGGAAATCGGCTCAAACTTCTCTTGAAGGAGGTCAGTCGTCATATCAAGGAACTGGAGAAGTTATTAGACGTGTCAAGTAGTCAGCAG___GATTTGTCTTCCTGGTCTTCTGCTGATGAACTGGACACCTCAGGGTCTGTGAGTCCCACATCAGGAAGGAGCACCCCAAACAGACAGAAAACG___CCACGAGGCAAGTGTAGTCTCTCACAGCCTGGACCCTCTGTCAGCAGTCCACATAGCAG___GTCCACAAAAGGTGGCTCCGATTCCTCCCTTTCTGAGCCAGGGCCAGGTCGGTCCGGCCGCGGCTTCCTGTTCAGAGTCCTCCGAGCAGCTCTTCCCCTTCAGCTTCTCCTGCTCCTCCTCATCGGGCTTGCCTGCCTTGTACCAATGTCAGAGGAAGACTACAGCTGTGCCCTCTCCAACAACTTTGCCCGGTCATTCCACCCCATGCTCAGATACACGAATGGCCCTCCTCCACTCTGAACTAAGCAGATGCCATCTGCAGAAGTGCTGGTAGCATAAGGAGGATCGGGTCATAAGCAATCCCAAACTACCAACAAGAGGACCTTGATCTTGGCGAAAGCCCTCGGTGTGGCAGCTTTAGCCCTCCTCCAGATCACATGTGTGCAAATTATGGCTTCAGAGGTGGAAGATAAACAGTGACGGGGGAACAAACAGACAACAAGAAGGTTTGGAAGAAATCTGGTTTGAGACTCTGAACCTTAGCACTAAGGAGATTGAGTAAGGACCTCCAAAGTTCCCCGGACTCATGAATTCTGGGCCCTTGGCCCATTCTGTGCACAGCCAAGGACTTCAGTAGACCATCTGGGCAGCTTTCCCATGGTGCTGCTCCAACCATCAGATAAATGACCCTCCCAAGCACCATGTCAGTGTCGTACAATCTACCAACCAACCAGTGCTGAAGAGATTTTAGAACCTTGTAACATACAATTTTTAAGAGCTTATATGGCAGCTTCCTTTTTACCTTGTTTTCCTTTGGGGCATGATGTTTTAACCTTTGCTTTAGAAGCACAAGCTGTAAATCTAAAAGGCACTTTTTTTTAGAGGTATAAAGAAAAACTAGATGTAATAAATAAGATCATGGAAGGCTTTATGTGAAAAAAGTTGAATGTTATAGTAAAAAAAAAAAGATATTTATGTATGTACAGTTTGCTAAAGCCAAGTTTTGTTTGTATTGATTTCTTTGCATTTATTATAGATATTATAAAATAGTT)$ MASSETEIRWAEPGLGKGPQRRRWAWAEDKRDVDRSSSQSWEEERLFPNATSPELLEDFRLAQQHLPPLEWDPHPQPDGHQDSESGETSGEEAEAEDVDSPASSHEPLAWLPQQGRQLDMTEEEPDGTLGSLEVEEAGESSSRLGYEAGLSLEGHGNTSPMALGHGQARGWVASGEQASGDKLSEHSEVNPSVELSPARSWSSGTVSLDHPSDSLDSTWEGETDGPQPTALAETLPEGPSHHLLSPDGRTGGSVARATPMEFQDSSAPPAQSPQHATDRWRRETTRFFCPQPKEHIWKQTKTSPKPLPSRFIGSISPLNPQPRPTRQGRPLPRQGATLAGRSSSNAPKYGRGQLNYPLPDFSKVGPRVRFPKDESYRPPKSRSHNRKPQAPARPLIFKSPAEIVQEVLLSSGEAALAKDTPPAHPITRVPQEFQTPEQATELVHQLQ|ELQRDIEKHSTGVASVLNLCEVLLHDCDACATDAECDSIQQATRNLDRRWRNICAMSMERRLKIEETWRLWQKFLDDYSRFEDWLKSSERTAAFPSSSGVIYTVAKEELKKFEAFQRQVHECLTQLELINKQYRRLARENRTDSACSLKQMVHEGNQRWDNLQKRVTSILRRLKHFIGQREEFETARDSILVWLTEMDLQLTNIEHFSECDVQAKIKQLKAFQQEISLNHNKIEQIIAQGEQLIEKSEPLDAAIIEEELDELRRYCQEVFGRVERYHKKLIRLPLPDDEHDLSDRELELEDSAALSDLHWHDRSADSLLSPQPSSNLSLSLAQPLRSERSGRDTPASVDSIPLEWDHDYDLSRDLESAMSRALPSEDEEGQDDKDFYLRGAVGLSGDHSALESQIRQLGKALDDSRFQIQQTENIIRSKTPTGPELDTSYKGYMKLLGECSSSIDSVKRLEHKLKEEEESLPGFVNLHSTETQTAGVIDRWELLQAQALSKELRMKQNLQKWQQFNSDLNSIWAWLGDTEEELEQLQRLELSTDIQTIELQIKKLKELQKAVDHRKAIILSINLCSPEFTQADSKESRDLQDRLSQMNGRWDRVCSLLEEWRGLLQDALMQCQGFHEMSHGLLLMLENIDRRKNEIVPIDSNLDAEILQDHHKQLMQIKHELLESQLRVASLQDMSCQLLVNAEGTDCLEAKEKVHVIGNRLKLLLKEVSRHIKELEKLLDVSSSQQDLSSWSSADELDTSGSVSPTSGRSTPNRQKTPRGKCSLSQPGPSVSSPHSRSTKGGSDSSLSEPGPGRSGRGFLFRVLRAALPLQLLLLLLIGLACLVPMSEEDYSCALSNNFARSFHPMLRYTNGPPPL* 11BR059 ENSG00000148948.8 ENSG00000255171.7 -/- +/- chr11:41459431 chr11:41857472 5'UTR/splice-site intron duplication/5'-5' 1 12 1 24 158 high . . . . . ENSG00000148948.8 ENSG00000255171.7 ENST00000530763.5 . upstream downstream . ^(GGTATTTCGTACAGTAGGAGATTTCAACAACGTGACAATATTCTCTAGGCACTTGGGCTCACTGTCTGTAGCCCCCACCCCCCGCCTTTCGCCACCTCCTTGCTTCCCTACTCCCCCTTCTGCTTTTGCCTTTGATGAGTTTTTGGCTTACTTTTTGG)CGGAGTCTCTTGGACACGTTTTTGCTGGTGCTGGAAGATCAGATACATGGAACCTTTGAAAACTGATTATTTTTCTCCGATATGACTTAAAAAAAAATAAAAAGAAGAAAAGAAAATAGAGTAGTGCACGGCAAGCTAGAGGATTGTAAATTTTCCTTGGTGAACTTTGAGGATCCATAAAGAAG|AAAGAAGAAATTTGAACACACAAAGGACAAGTGCAGAGACAGAGGGATGACCATGTGAGGACACG___GCAAAGAAGCCAACATAACACAGAGACTGAGACTCTGAGGAATGTGATATGGAGATGGAAAAATGGG?TA...___GCTGGATTTCAGTGGCG . 11BR059 ENSG00000181788.4 ENSG00000214237.11 -/- -/- chr3:150762433 chr3:150903416 CDS/splice-site CDS/splice-site duplication 2 12 0 133 29 high in-frame . Seven_in_absentia_protein_family(100%)| . . ENSG00000181788.4 ENSG00000214237.11 ENST00000312960.4 ENST00000465419.7 upstream downstream . ^(GCTTGCGTCAGCGGCTGTTCCAGAAGCGGGTGGGCCAGGGCTCTGCGCACCGCTGGGGTTCGGGGCCCGGGACGCCGCCGGGAGGAGGGCACCGCGCGGGGTCCGACGCGGAGGCGTGCTCGGAACGCCGGGGGCTGCGGAGTGCATCAGCGCGGTCCAGCCCTCCGCCTGCCGGGCGCCGAGCGTCTCCGCCGCCCGGACCTGGGCTGGGCGCCGTGGCGTTGCCTCGGAGCTCGCTGCCCGCGGGGCGCGCACCGCCTTGACCCGGGCGGCCCCGCGGCAGGCAGGCGCCCGCAGTTCCATGGTTGGTTCGGAGCGCGATGAGCCGCCCGTCCTCCACCGGCCCCAGCGCTAATAAACCCTGCAGCAAGCAGCCGCCGCCGCAGCCCCAGCACACTCCGTCCCCGGCTGCGCCCCCGGCCGCCGCCACCATCTCGGCTGCGGGCCCCGGCTCGTCCGCGGTGCCCGCCGCGGCGGCGGTGATCTCGGGCCCCGGCGGCGGCGGCGGGGCCGGCCCGGTGTCCCCGCAGCACCACGAGCTGACCTCGCTCTTCGAGTGTCCGGTCTGCTTTGACTATGTCCTGCCTCCTATTCTGCAGTGCCAGGCCGGGCACC)TGGTGTGTAACCAATGCCGCCAGAAGTTGAGCTGCTGCCCGACGTGCAGGGGCGCCCTGACGCCCAGCATCAGGAACCTGGCTATGGAGAAGGTGGCCTCGGCAGTCCTGTTTCCCTGTAAG|AATCATGAAGGCAACCATACATCTGCTGATGAAAATGAAGATGGAACAGGACTATCTCAGCCCAAAGGACAAGGACATTTGCCATCAAGTGGCCTTTGTTCTATTCCCAACCCCTCTATCATCTCTTCAAAATTGGGTGGCTTTCCTATCTCCCTAGCAATGGCCACG___AAGCTGCGGC(AGATCCTGTTTGGAAACACAGTCCATGTCTTTAGCTATAACTGGAAAAAGGCCTATTTCAGGTTCCATGATCCTTCTTCTGAACTAGCTTTCACTCTGGAAGTGGGAAAG___GGAGGGGCCCGAAGCATTCAGATGGCTGTGCAAGGATCCATCATCAAATACTTGTTGTTTACCAGGAAAGGAAAAGACTGTAACCTTGGCAA___CTTATGTGAAATAAGCAAGAAGGAGCAGGAGCAAGCCTTGGCCGCGGCGCTTGCTGGCATCCTGTGGGCTGCAGGAGCAGCTCAGAAGGCCACCATCTGTCTTGTCACTGAGGACATTTACGTTGCGTCGACTCCGGACTACTCTGTGGACAATTTCACTGAGCGA___CTCCAGCTGTTTGAATTTTTAGAGAAAGAAGCCGCTGAGAAATTCATCTACGATCACTTACTATGT___TTCAGAGGGGAAGGAAGCCATGGTGTCATCCTGTTTCTGTACAGCCTGATCTTCTCTAGAACATTTGAAAG___GCTTCAAATGGACCTAGATGTCACCACCACTCAGCTGCTACAACCAAATGCTGGAGGCTTTCTGTGCAGGCAG___GCAGTTCTGAACATGATTTTAACTGGAAGAGCAAGTCCCAATGTCTTCAATGGCTGTGAGGAAGGAAAGTCTCAGGAAACACTACATGGAGTCCTGACCCGCAGTGATGTTGGCTATTTGCAGTGGGGTAAGGATGCCTCGGAAGATGACAGACTCTCACAG___GTGGGCAGCATGCTGAAGACTCCCAAATTACCTATTTGGCTGTGCAACATCAATGGAAATTACAGCATCCTTTTTTGCACAAACAGGCAGCTCTTATCAGACTGGAAAATGGAACGTCTCTTTGATCTGTACTTTTACAGTGGCCAACCCTCACAGAAAAAGCTTGTGCGTCTTACAATAG___ATACTCACTCCCATCACTGGGAAAGAGACCAACAGGAAGAGAAACATGGACCAAGACGACGGTTTTCACCAGTGGAGATGGCAATCAGAACCAAGTGGAGCGAGGCCACCATCAACTGGAATGGGACCGTTCCCTTCTTCTAAAGGGAAACTAGGCTGTGCAATGAAGTCTGAAGTGTCAGAACTGCTGGGATGCAAAAGCCTAATGTGGGGGAGACCAATCGTTTCCATATTTCTCATTCACAAGCCCCACCAAAAAATATATATATATACCATTAGCAGTTTTTTCATTTTTTAAGTCTCTGGTAAATCCCTAGCTGTCAGCATTGTAGGAGAAACACAGGCCCCCACACCAGGGCCTGCATGGTGCCTCCTCCGTAGTCACATAGACTGGTTTCTTTCTTTTATTCAAAAGAGAAAATGAAGCCTCTCTCTTGCATGTTTTTCCAAAGTTGTCTTTTCTTGGTATAACTCTCCATGAGGATTACGGAAGCAGGCTGCTAGCTTTCATTTGGGGATGAAGTCATTGGTAATGCATCATCGGATTTTTAGTTATGGCAAGAACTCAAGCCTTCTCAAGGACTTCCTGGTATGGACGGCATTCCTTTCCAAGGATACAGTTCATATGCCCACATTAGCAAGTTCTTGTCATTAAAATAGTAAATGGGCTTCTTGGGGTTTGAAGCAGGGGTTATTCCTGGTAGGCTGACAGCTATAGCAGTTGACATGTGGGTTTCAGTAGCCACAAGGAGACATTCTTTTTATTAGCAGTATGTTTGTTTCTTTTCTTCAATGCTGGATATAAATACACAA)$ MSRPSSTGPSANKPCSKQPPPQPQHTPSPAAPPAAATISAAGPGSSAVPAAAAVISGPGGGGGAGPVSPQHHELTSLFECPVCFDYVLPPILQCQAGHLVCNQCRQKLSCCPTCRGALTPSIRNLAMEKVASAVLFPCK|NHEGNHTSADENEDGTGLSQPKGQGHLPSSGLCSIPNPSIISSKLGGFPISLAMATKLRQILFGNTVHVFSYNWKKAYFRFHDPSSELAFTLEVGKGGARSIQMAVQGSIIKYLLFTRKGKDCNLGNLCEISKKEQEQALAAALAGILWAAGAAQKATICLVTEDIYVASTPDYSVDNFTERLQLFEFLEKEAAEKFIYDHLLCFRGEGSHGVILFLYSLIFSRTFERLQMDLDVTTTQLLQPNAGGFLCRQAVLNMILTGRASPNVFNGCEEGKSQETLHGVLTRSDVGYLQWGKDASEDDRLSQVGSMLKTPKLPIWLCNINGNYSILFCTNRQLLSDWKMERLFDLYFYSGQPSQKKLVRLTIDTHSHHWERDQQEEKHGPRRRFSPVEMAIRTKWSEATINWNGTVPFF* 11BR059 ENSG00000181788.4 ENSG00000260234.5 -/- -/- chr3:150762433 chr3:150903416 CDS/splice-site 3'UTR/splice-site duplication 2 12 0 133 29 high out-of-frame . Seven_in_absentia_protein_family(100%)| . . ENSG00000181788.4 ENSG00000260234.5 ENST00000312960.4 ENST00000569170.5 upstream downstream . ^(GCTTGCGTCAGCGGCTGTTCCAGAAGCGGGTGGGCCAGGGCTCTGCGCACCGCTGGGGTTCGGGGCCCGGGACGCCGCCGGGAGGAGGGCACCGCGCGGGGTCCGACGCGGAGGCGTGCTCGGAACGCCGGGGGCTGCGGAGTGCATCAGCGCGGTCCAGCCCTCCGCCTGCCGGGCGCCGAGCGTCTCCGCCGCCCGGACCTGGGCTGGGCGCCGTGGCGTTGCCTCGGAGCTCGCTGCCCGCGGGGCGCGCACCGCCTTGACCCGGGCGGCCCCGCGGCAGGCAGGCGCCCGCAGTTCCATGGTTGGTTCGGAGCGCGATGAGCCGCCCGTCCTCCACCGGCCCCAGCGCTAATAAACCCTGCAGCAAGCAGCCGCCGCCGCAGCCCCAGCACACTCCGTCCCCGGCTGCGCCCCCGGCCGCCGCCACCATCTCGGCTGCGGGCCCCGGCTCGTCCGCGGTGCCCGCCGCGGCGGCGGTGATCTCGGGCCCCGGCGGCGGCGGCGGGGCCGGCCCGGTGTCCCCGCAGCACCACGAGCTGACCTCGCTCTTCGAGTGTCCGGTCTGCTTTGACTATGTCCTGCCTCCTATTCTGCAGTGCCAGGCCGGGCACC)TGGTGTGTAACCAATGCCGCCAGAAGTTGAGCTGCTGCCCGACGTGCAGGGGCGCCCTGACGCCCAGCATCAGGAACCTGGCTATGGAGAAGGTGGCCTCGGCAGTCCTGTTTCCCTGTAAG|AATCATGAAGGCAACCATACATCTGCTGATGAAAATGAAGATGGAACAGGACTATCTCAGCCCAAAGGACAAGGACATTTGCCATCAAGTGGCCTTTGTTCTATTCCCAACCCCTCTATCATCTCTTCAAAATTGGGTGGCTTTCCTATCTCCCTAGCAATGGCCACG___AAGCTGCGGC(AGATCCTGTTTGGAAACACAGTCCATGTCTTTAGCTATAACTGGAAAAAGGCCTATTTCAGGTTCCATGATCCTTCTTCTGAACTAGCTTTCACTCTGGAAGTGGGAAAG___CTTATGTGAAATAAGCAAGAAGGAGCAGGAGCAAGCCTTGGCCGCGGCGCTTGCTGGCATCCTGTGGGCTGCAGGAGCAGCTCAGAAGGCCACCATCTGTCTTGTCACTGAGGACATTTACGTTGCGTCGACTCCGGACTACTCTGTGGACAATTTCACTGAGCGA___CTCCAGCTGTTTGAATTTTTAGAGAAAGAAGCCGCTGAGAAATTCATCTACGATCACTTACTATGT___TTCAGAGGGGAAGGAAGCCATGGTGTCATCCTGTTTCTGTACAGCCTGATCTTCTCTAGAACATTTGAAAG___GCTTCAAATGGACCTAGATGTCACCACCACTCAGCTGCTACAACCAAATGCTGGAGGCTTTCTGTGCAGGCAG___GCAGTTCTGAACATGATTTTAACTGGAAGAGCAAGTCCCAATGTCTTCAATGGCTGTGAGGA)$ MSRPSSTGPSANKPCSKQPPPQPQHTPSPAAPPAAATISAAGPGSSAVPAAAAVISGPGGGGGAGPVSPQHHELTSLFECPVCFDYVLPPILQCQAGHLVCNQCRQKLSCCPTCRGALTPSIRNLAMEKVASAVLFPCK|nhegnhtsadenedgtglsqpkgqghlpssglcsipnpsiissklggfpislamatklrqilfgntvhvfsynwkkayfrfhdpsselaftlevgklm* 11BR059 ENSG00000118482.12 ENSG00000262566.1(572925),ENSG00000217477.2(8820) +/+ ./+ chr6:63636150 chr6:63184252 5'UTR/splice-site intergenic duplication 4 8 1 30 27 high . . . . . ENSG00000118482.12 . ENST00000262043.8 . downstream upstream . ^(AGTGGGGTCACGTGACACGGCCCCTCTCCAGCTCCCGCGCCGCCGCCGCACGCCGATGGCTGCGGGGTCTCGCGCCGTCGCACCGTCCCCACGCGGCAAGCGACCTTCGGGCTCAGGGCGGCGGCGGCTGCAACGAGGATTAGGAGGGCGGCGCGGAAGCCAAGAATAGTGTCGTCAGCAGCAGCCATTTGGTCCCAGGAGGAA)AAGAGGCTGTGGCAGCGACGCCGACGTCCTGCGCGTACCCCCTCTCCGCGGCACCCACCGGGCCCCCTCCTCCTCCTCTTCGGCGGCGGCAGCGTCCACCATCTTCCTCTTGCTGCCAGTGGTAGCGCTCGTCTGGCGGAGCTGG|AGTCTCTCTCTGTTGCCCAGACTGGAGTGCAGGGGCTTGATCTTGGCTCCTTGCAAACTTCACCTCAAATGATCTGCCCACCTCAGCCTCCCAAAGTGTGAGGATTACAG___GAAACCACACATCAGGCCTTCCAGACAGTATCAAGGAAAG . 11BR059 ENSG00000004766.17 ENSG00000227863.3(169388),ENSG00000239075.1(88314) +/+ ./+ chr7:93303550 chr7:89666306 CDS/splice-site intergenic duplication 4 9 0 87 20 high out-of-frame . Vacuolar-sorting_protein_54__of_GARP_complex_(100%)| . . ENSG00000004766.17 . ENST00000544910.5 . downstream upstream . ^(AGGATACCCTGGGTCGGCTCCTCCACGTGACCACCCACTATGGCTTCCTAGTGTCAGGGCCAGCTGTGTAGTGGCTCGGTGTGATTTGTTAGCTCTTTGAGGCAGGGTACCCTCCTCAGGATTTCGATATGCAAAAAATCAAATCTCTCATGACCCGACAG___GGTCTGAAAAGCCCTCAAGAAAGCCTCAGTGATCTTGGTGCCATAGAGAGTCTCCGGGTCCCTGGAAAG___TTAGAGCCCTAACGTGATGTTAACTTTG___GAAGAATTCAGGGAACTTCGAGAACAGCCAAGTGACCCTCAAGCTGAACAAGAGCTTATTAATAGTATTGAACAAGTATATTTTTCTGTGGATTCATTTGATATTGTTAAATATGAGCTGGAG___AAGCTTCCACCTGTTCTCAATTTGCAAGAATTAGAGGCGTATAGAGACAAATTGAAACAACAGCAAGCTGCA___GTATCTAAAAAAGTGGCAGATTTAATCCTTGAAAAACAGCCTGCTTATGTAAAG___GAACTTGAAAGAGTTACCTCATTGCAGACAGGTCTTCAATTAGCTGCTGTTATCTGTACAAATGGGAGAAG___ACACTTGAATATTGCAAAGGAAGGTTTTACTCAAGCTAGTTTAGGCCTTCTTGCAAATCAAAGGAAACGTCAGTTGCTGATTGGACTTCTGAAATCTCTGAGAACTATAAAAACATTG___CAAAGAACAGATGTACGGTTAAGTGAAATGCTGGAG___GAGGAAGATTATCCAGGAGCTATTCAGTTGTGCCTTGAATGTCAAAAAGCTGCCAGCACTTTTAAACATTACAGTTGTATAAG___TGAACTGAATTCAAAGCTGCAAGATACTTTGGAACAGATTGAG___GAACAGCTGGACGTAGCTCTTTCCAAAATCTGCAAGAATTTTGACATTAACCATTATACCAAGGTTCAACAAGCTTATCGACTTCTTGGAAAAACACAG___ACAGCAATGGATCAACTTCATATGCACTTCACCCAAGCCATTCACAACACCGTGTTTCAAGTTGTTCTTGGTTATGTGGAACTATGTGCAGGAAACACAGACACAAAATTCCAAAAGCTGCAATATAAGGATCTCTGTACA___CATGTTACACCAGACAGCTATATTCCATGCCTTGCAGACCTGTGCAAAGCACTATGGGAAGTTATGCTCAGCTATTATAGGACTATGGAATGGCATGAAAAGCATGACAATGAGGATACTGCTTCAGCTTCTG___AAGGGAGTAATATGATAGGTACTGAAGAAACTAATTTTGATCGTGGCTACATAAAAAAGAAATTAGAACATGGACTTACACGAATATGGCAG___GATGTTCA)GCTAAAAGTAAAAACCTACTTGCTTGGAACTGATTTGTCTATATTCAAATATGATGATTTCATCTTTGTTTTGGATATAATCAGCAG___GTTGATGCAAGTTGGAGAAGAATTTTGTGGTAGCAAGTCTGAAGTTTTACAGGAATCTATTAGAAAACAAAGTGTCAATTATTTCAAGAATTACCATAG___AACACGGCTCGATGAACTGAGAATGTTCTTAGAGAATGAGACTTGGGAACTTTGTCCTGTTAAGTCAAATTTCAGCATCTTGCAACTTCAT|ACGGTTGTGTGAGATGAAGTTGTGACAACTGGATAGGCATGGAGCTGAGTGCCAAAAGACAAAATAAAACAAATAGAGCCAAGACAAGAAGCGCAGATGAATTCCAGGAGTTGGAATATGGCCAAGAATCAAAATGTATGTTAGTATTAGGGTTTATATAATCAGCAATTAGGG MLTLEEFRELREQPSDPQAEQELINSIEQVYFSVDSFDIVKYELEKLPPVLNLQELEAYRDKLKQQQAAVSKKVADLILEKQPAYVKELERVTSLQTGLQLAAVICTNGRRHLNIAKEGFTQASLGLLANQRKRQLLIGLLKSLRTIKTLQRTDVRLSEMLEEEDYPGAIQLCLECQKAASTFKHYSCISELNSKLQDTLEQIEEQLDVALSKICKNFDINHYTKVQQAYRLLGKTQTAMDQLHMHFTQAIHNTVFQVVLGYVELCAGNTDTKFQKLQYKDLCTHVTPDSYIPCLADLCKALWEVMLSYYRTMEWHEKHDNEDTASASEGSNMIGTEETNFDRGYIKKKLEHGLTRIWQDVQLKVKTYLLGTDLSIFKYDDFIFVLDIISRLMQVGEEFCGSKSEVLQESIRKQSVNYFKNYHRTRLDELRMFLENETWELCPVKSNFSILQLH|tvv* 11BR059 ENSG00000150961.15 ENSG00000287951.1(34570),ENSG00000164056.11(11004) -/- ./- chr4:118833579 chr4:123385791 CDS/splice-site intergenic duplication 7 6 0 135 17 high out-of-frame . . . . ENSG00000150961.15 . ENST00000280551.11 . upstream downstream mismappers(10) ^(GTTTGACGTGGCAGTTCCCAGCCCAGCTGCAACTCCGAGCGTGAGTCCAGGCTAAGGGGACGCCGGCCGGGGAAGAGGCGCGGCGGGAGAAGCGACCGCAGCGGGAGCCCGGCCACCGAGGGCTGCCGGCACTAGGCGCAGAGCCGCCAGCGCTCGGAAGCCCGCGGGGTGCGGGAGCGGGAACAG___ACTTCTTTTGTAGAATTATCCTATGGAATGATATTTTCA)TAATGAGTCAACAAGGTTACGTGGCTACACCTCCGTATTCTCAGCCTCAGCCTGGAATAGGCCTTTCTCCACCTCATTATGGGCACTATGGGGATCCGTCGCACACAGCATCTCCAACAG|ATGGAGTCTTAATCTGTCTCCCAGACTGGAGCACAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGATTACAGGCGCCTGCCGTCATGCCTAGTTAATTTTTGTATTTTTAGTAGAGATGGGG MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPT|dgvliclpdwstvapsqltatsasrvqaillpqppd* 11BR059 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 2 10 0 14 19 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream low_entropy(2) CGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGG(ATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 11BR059 ENSG00000131018.24 ENSG00000236166.1 -/- +/+ chr6:152211494 chr6:132090446 CDS/splice-site intron inversion 8 3 0 115 14 high out-of-frame . Calponin_homology_(CH)_domain(100%),Spectrin_repeat(100%)| . . ENSG00000131018.24 ENSG00000236166.1 ENST00000341594.9 . upstream upstream duplicates(1) ^(CCCGGGCAGTGGAAACCGTGGGCAAAAGTTAGCTGGCAGGACAGCGCAGCTCCTCCAGGCAGCGGAGGCAGCGCGTCCCGGCTCTCAGGGACATTTCCTTCCCACCTCGACCCCCGGGAGGTGGTCCCGGTATAAAGGCTCGCTGAGCGGGTGGGTCACAGCACAGCTTTGCAGCTGCGGAGAAACGCCCAAGGCCGTGCATCTCCAGGAG___GGCGGCTGGGCTCCCGCAGTCCTGCAGACCGCGCCCGATCCCGGCGACAGGGCGGGCGGACAGCCGCGCATCCCCGGGGTCCCGCCGAGCCTGGGCGCAGAGAGCCGGGAGGAAGCGTTCGCTCGCTTCGCCTTGCTGCTGGGAAACTGAACGAGGCCGAGAGAGAAG___GTTCTTGAGTTCATGTAAGAGGACAGTCTTAAAACGGAAGAAGAAAAAGAAGCAGTTCAGTCTTTGGGAGAGCTGCCTCCTTGTTGAGTGCTGCAAAGGCCTGGAATTCATTTATGACAGAATAGATCTAGAAAAGTCCAAGCATGTTTTCTAGAGTGGTGTAGCCCTGTGCTGCCTCCAGTGAAGAGTCTCTTGGTGTTGGCTTCGTGCTTCCGGAGGGACCATGGCAACCTCCAGAGGGGCCTCCCGGTGTCCTCGGGATATCGCCAATGTGATGCAGAGGCTGCAAG___ATGAGCAAGAGATAGTACAAAAACGAACTTTCACAAAATGGATCAACTCTCATCTGGCCAAG___CGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTG___CCTTGTGAACAAGGACGCCGGATGAAGCGAATCCATGCTGTGGCTAACATTGGCACGGCACTCAAGTTCCTCGAAGGAAGAAAG___ATTAAATTAGTCAACATTAACTCCACCGATATAGCTGATGGCCGACCCTCAATAGTTCTTGGATTGATGTGGACCATTATTCTATATTTCCAG___ATTGAAGAGTTGACCAGCAACCTGCCCCAGCTCCAGTCTTTGTCCAGCAGCGCATCCTCCGTGGACAGCATAGTTAGCTCTGAGACTCCCAGCCCACCAAGTAAACGGAAGGTGACCACCAAGATCCAAGGAAATGCTAAGAAGGCTTTATTAAAGTGGGTTCAGTACACAGCTGGCAA___GCAGACTGGAATAGAAGTAAAAGATTTTGGGAAGAGTTGGAGAAGCGGGGTTGCCTTTCATTCAGTTATTCATGCCATTCGACCGGAATTGGTGGACTTGGAGACAGTGAAAGGCAGATCCAACCGAGAAAATTTGGAGGATGCTTTCACTATCGCCGAAACAGAACTGGGGATCCCAAGACTGCTAGATCCTGAAG___ACGTTGATGTGGATAAACCAGATGAGAAATCTATTATGACCTATGTAGCCCAGTTTCTGAAACATTATCCTGACATCCACAATGCAAGCACTGATGGGCAAGAGGATGAT___GAAATACTTCCAGGTTTCCCATCTTTTGCAAATTCTGTACAAAATTTTAAG___AGAGAAGACAGAGTAATTTTTAAGGAAATGAAAGTTTGGATAGAACAATTTGAGAGAGATTTGACAAGAGCACAGATGGTGGAATCAAATTTACAGGATAAATATCAG___TCATTTAAGCACTTCAGAGTTCAATATGAAATGAAGAGGAAACAGATTGAACATTTAATACAACCATTACACAGAGACGGTAAATTGTCACTTGACCAAGCATTGGTAAAACAATCTTGGGATAGAGTGACCTCCAGG___CTCTTTGACTGGCATATACAGCTTGATAAATCTCTTCCTGCACCTCTGGGCACCATAGGTGCCTGGCTGTACAGAGCGGAGGTGGCCCTGAGAGAGGAAATAACCGTTCAACAGGTCCACGAGGAAACAGCAAACACGATACAACGGAAACTTGAGCAACATAAG___AGAAAATGCCAGACAAT___CATG___GATCTGCTTCAAAACACGGATGCCCACAAAAGAGCATTCCATGAAATCTACCGGACCAGGTCTGTTAACGGGATTCCAGTGCCACCTGATCAATTAGAGGACATGGCCGAGAG___GTTTCATTTTGTTTCCTCCACATCAGAGCTACACCTAATGAAAATGGAATTTTTAGAATTAAAGTACCGTCTGCTCTCACTGCTGGTTCTTGCAGAGTCAAAGCTGAAGTCTTGGATCATTAAGTACGGGAGGAGAGAGTCAGTGGAGCAGCTTCTACAAAACTACGTG___TCTTTTATAGAAAATAGCAAGTTCTTTGAACAATATGAGGTGACATACCAGATCTTGAAACAGACAGCTGAGATGTATGTCAAAGCAGATGGTTCAG___TGGAAGAAGCTGAGAATGTGATGAAATTCATGAATGAAACCACCGCTCAGTGGAGGAATCTCTCAGTAGAAGTGAGGAGTGTGAGGAGCATGCTGGAAGAAGTGATCTCTAACTGGGATCGCTATGGCAATACAGTGGCTAGTCTGCAAGCCTGGCTAGAGGATGCTGAAAAAATGCTCAATCAATCAGAAAATGCCAAAAAG___GATTTTTTTCGAAATTTACCTCATTGGATTCAGCAGCATACTGCCATGAACGATGCTGGCAATTTTCTAATTGAAACCTGTGATGAGATGGTTTCCCGTGACCTGAAGCAGCAATTACTGTTGCTAAATGGGCGGTGGAGGGAGTTGTTTATGGAAGTCAAGCAA___TATGCTCAAGCTGATGAGATGGACAGAATGAAGAAGGAATACACAGACTGTGTTGTTACCCTGTCTGCTTTTGCAACGGAAGCCCATAAGAAACTTTCTGAACCCTTAGAAGTCTCTTTTATGAATGTCAAGCTATTAATTCAAGACTTGGAG___GATATTGAGCAGAGGGTGCCTGTGATGGATGCCCAATACAAGATAATTACAAAGACAGCACACCTCATTACCAAAGAAAGCCCCCAAGAAGAAGGAAAAGAAATGTTTGCGACCATGTCAAAGCTCAAAGAGCAGCTAACCAAG___GTCAAAGAATGTTACTCCCCACTCCTTTATGAGTCTCAGCAGCTGTTGATTCCGTTGGAGGAATTAGAAAAGCAGATGACGTCCTTTTATGACTCACTTGGGAAAATCAATGAAATTATCACAGTTCTTGAGCGTGAGGCACAATCGAGTGCCCTTTTTAAACAAAAACATCAG___TTGAGGATACTGAAATGCAAATGGTGTAATTCAAGCCAAAAAATGACCCTCTGCCTTGTGCTGGGCTCAATGATTTCCATGCTGTCTACTGCCAAAATCACAATTGCAGGCTACAAGTCAGAGGTGGAGGTGTCT___GAACTGTTAGCTTGTCAAGAAAACTGTAAGAAAACCTTGACACTTATTGAGAAAGGCAGTCAAAGTGTTCAAAAGTTTGTGACCTTGAGCAACGTGTTAAAGCATTTTGATCAGACGAGGCTACAA___ACAGATTGCAGATATTCATGTTGCTTTTCAG___TAATGAGAAAGCAGCATCACATTATGATTGTTTTTCACATCAAGAGTATGGTAAAGAAAACTGGAGATTGGAAGAAGCATGTGGAAACCAACAGTCGCTTGATGAAGAAGTTTGAGGAGTCTCGAGCAGAGTTGGAGAAGGTACTGCGGATTGCTCAGGAGGGCCTGGAGGAAAAGGGGGATCCAGAGGAGCTCCTGCGGAGACACACT___GAGTTTTTCAGTCAGCTGGATCAGAGGGTGCTCAATGCTTTCCTGAAAGCTTGTGATGAACTCACCGACATCCTTCCAGAGCAGGAGCAGCAGGGGCTGCAGGAAGCTGTTCGAAAGCTCCACAAACAATGGAAG___GATCTTCAAGGAGAAGCCCCTTATCATTTGCTTCATCTGAAGATTGATGTGGAGAAGAATAGGTTCTTAGCCTCTGTAGAAGAATGCAGAACTGAGCTGGATCGAGAGACCAAGCTGATGCCCCAGGAAGGCAGTGAAAAGATAATTAAAGAGCACAGG___GTTTTCTTCAGTGACAAAGGTCCTCATCATCTCTGTGAGAAAAGGTTACAGCTCATCGAGGAACTCTGTGTGAAACTCCCAGTGCGGGACCCAGTAAGGGACACACCTGGAACCTGTCACGTGACTCTCAAAGAGCTCAGAGCTGCCATTGACAGCACCTACAGGAAGCTCATGGAAGACCCAGACAAGTGGAAGGACTACACTAGCAG___ATTCTCTGAGTTCTCATCTTGGATATCTACAAATGAGACACAATTAAAGGGGATCAAGGGTGAGGCCATCGATACTGCCAACCACGGAGAGGTTAAACGTGCCGTTGAA___GAGATCAGAAATGGTGTTACCAAAAGGGGTGAGACCCTCAGCTGGCTGAAATCCAGGCTGAAAGTTTTGACAGAAGTTTCTTCTGAGAATGAAGCCCAAAAGCAGGGAGATGAGCTGGCAAAATTATCCAGCTCTTTCAAGGCTCTTGTGACGCTGCTGTCAGAG___GTTGAAAAGATGCTAAGCAATTTTGGGGACTGTGTCCAGTACAAAGAAATAGTCAAAAATTCTCTCGAAGAATTAATTTCTGGCTCTAAAGAAGTCCAGGAACAAGCTGAGAAGATCTTGGATACTGAAAATCTGTTTGAAGCACAGCAGTTACTTCTTCATCACCAG___CAAAAGACAAAGCGGATCTCAGCAAAGAAGAGAGATGTGCAGCAGCAGATCGCGCAGGCGCAGCAGGGAGAAGGGGGGCTGCCTGACCGAGGCCACGAGGAGCTGCGGAAGCTGGAGAGCACACTGGATGGCCTGGAGCGCAGCCGGGAGAGGCAGGAACGCCGCATCCAG___GTCACATTAAGAAAATGGGAGCGATTTGAAACAAACAAAGAAACAGTAGTAAGATACCTTTTTCAAACAGGTTCCAGTCATGAACGCTTCTTGAGTTTTAGCAGTTTGGAAAGTTTATCTTCAGAACTGGAACAAACAAAG___GAGTTTTCTAAACGGACAGAAAGTATTGCAGTCCAGGCTGAGAACCTTGTAAAGGAAGCTTCAGAGATACCGCTTGGGCCCCAAAATAAGCAGCTGCTTCAACAGCAGGCCAAGTCAATCAAAGAACAAGTCAAAAAATTAGAAGACACGCTTGAAGAAGAGTATGTGATTGACAA___TAAAACCATGGAAATGGTGAAAACCAAGTGGGATCATTTTGGCAGTAATTTTGAGACTCTGTCCGTCTGGATAACTGAGAAAGAAAAAGAACTCAATGCCTTGGAAACTTCGTCATCTGCCATGGACATGCAAATCAGCCAAATTAAG___GTCACAATTCAGGAAATAGAAAGTAAGCTCAGCAGCATTGTAGGATTAGAAGAAGAAGCCCAGTCTTTTGCTCAGTTTGTTACCACTGGAGAATCTGCTCGAATTAAAGCCAAGTTGACACAAATAAGAAGATACGGGGAAGAGCTTCGAGAGCATGCACAGTGTCTGGAAGGAACAATCCTGGGACATTTATCTCAGCAGCAAAAGTTTGAAGAGAACCTTAGAAAG___ATCCAGCAATCTGTGTCTGAATTTGAAGATAAACTTGCTGTTCCAATTAAAATATGTTCTTCAGCTACAGAAACATACAAAGTTCTTCAAGAACATATG___GATCTCTGCCAGGCCCTGGAGTCACTGAGCAGCGCGATCACTGCCTTCTCAGCCAGTGCCAGGAAGGTTGTGAACAGAGATTCCTGTGTTCAGGAGGCTGCGGCTCTACAGCAGCAATACGAGGACATCCTAAGGAGGGCGAAGGAGAGACAGACGGCGCTGGAGAATCTGCTGGCCCACTGGCAGAG___GCTAGAGAAAGAACTATCATCCTTTTTGACCTGGTTAGAGCGGGGTGAAGCTAAAGCCAGTTCCCCAGAAATGGACATTTCTGCAGACAGAGTCAAAGTGGAAG___CCTCCAAAGATGATGTGAAAATGATGAAACTACATTTGGAGCAGTTGGATGAGAGATGGAGAGATTTACCACAGATCATTAACAAAAG___GATTAATTTTCTTCAGTCTGTGGTTGCTGAACACCAGCAATTTGATGAGCTGCTGCTTTCCTTTTCTGTCTGGATTAAACTGTTTCTCAGTGAATTACAAACTACCTCTGAGATTAGCATAATGGACCATCAAGTAGCCCTTACTCGGCATAAG___GACCACGCAGCAGAAGTAGAGAGCAAAAAGGGCGAATTGCAGAGTCTGCAGGGTCACTTAGCAAAGTTGGGTTCTCTGGGCCGTGCTGAGGACCTCCACCTCCTGCAGGGAAAGGCTGAGGACTGCTTCCAGCTGTTTGAGGAGGCCAGCCAGGTTGTGGAGAGGCGGCAGCTTGCCCTGTCCCATTTGGCAGAATTCCTCCAGAGCCATGCCTCTCTGTCCGGCATTCTCCGCCAGCTGAGGCAAACAGTGGAAGCAACCAACAGTATGAATAAGAACGAGTCTGATTTGATAGAAAAGGACCTCAATGATGCTCTTCAAAATGCTAAAGCATTAGAATCTGCTGCCGTCAGTCTGGATGGCATTCTTTCCAAAGCCCAATACCATCTGAAAATCGGGAGCTCTGAGCAAAGGACTTCCTGCAGAGCCACGGCTGATCAGCTCTGTGGAGAGGTAGAGAGGATCCAGAACCTTCTGGGAACCAAGCAGAGTGAGGCAGATGCTCTGGCAGTGTTGAAAAAAGCATTCCAAGACCAGAAAGAGGAGCTTCTGAAAAGCATTGAGGACATTGAAGAAAGGACTGACAAAGAGCGATTGAAAGAACCTACCCGCCAAGCTCTTCAGCAGAG___GTTAAGAGTGTTTAATCAGCTAGAAGATGAATTGAATTCTCACGAGCATGAACTATGTTGGTTGAAAGACAAAGCCAAGCAAATTGCCCAGAAAGATGTAGCTTTTGCACCTGAAGTTGACAGGGAGATAAACCGCTTAGAGGTCACCTGGGATGATACCAAAAGACTAATTCATGAAAA___TCAGGGTCAGTGCTGTGGACTTATTGACTTAATGAGAGAATATCAGAACCTGAAATCAGCTGTATCTAAAGTCTTAGAAAATGCCAGCAGTGTGATTGTAACCAGAACTACCATAAAAGATCAGGAGGATCTTAAATGGGCTTTTTCCAAG___CATGAAACTGCCAAGAACAAAATGAATTACAAACAGAAAGACTTGGATAACTTTACCAGCAAAGGAAAACACTTGTTATCTGAGCTGAAGAAAATTCACAGTAGTGATTTCAGCTTGGTGAAAACAGACATGGAGAGCACCGTGGACAAATGGCTGGAT___GTATCAGAGAAACTTGAAGAAAACATGGATAGGCTGAGAGTAAGCCTGTCCATTTGGGATGATGTACTGTCAACTAGAGATGAGATTGAGGGATGGTCAAACAACTGCGTTCCACAGATGGCAGAAAACATCAGCAACCTGGATAACCACCTCAGAGCTGAAGAACTGCTTAAAGAATTTGAG___TCTGAAGTTAAAAACAAAGCATTGAGATTGGAAGAACTGCATTCCAAAGTTAATGATCTGAAAGAATTAACTAAAAATCTAGAAACACCGCCAGACCTTCAG___TTTATAGAAGCAGACTTAATGCAGAAACTGGAGCATGCCAAAGAAATAACTGAAGTAGCAAAAGGAACCCTGAAGGATTTCACGGCTCAAAGTACACAAGTGGAGAAGTTTATTAATGACATAACAACATGGTTCACAAAAGTGGAAGAATCGTTGATGAACTGTGCCCAAAATGAGACTTGTGAAGCATTGAAAAAAGTCAAG___GATATACAAAAAGAACTTCAAAGTCAACAAAGCAACATCAGCTCTACCCAAGAAAATCTCAATAGCTTGTGCCGCAAGTACCACTCAGCTGAGTTGGAGAGCCTGGGCCGTGCAATGACTGGTCTGATAAAGAAACATGAAGCCGTGAGCCAGTTGTGCTCCAAAACCCAGGCCAGCCTGCAGGAATCTCTGGAAAAACACTTCAGTG___AAGAGTCTATGCAGGAATTCCAAGAATGGTTTTTGGGAGCAAAGGCAGCAGCAAAAGAATCATCAGATCGCACCGGTGACAGCAAAGTTCTAGAAGCAAAGCTCCATGATCTTCAG___CAGAACATTTTGGACTCAGTCAGTGATGGGCAGAGCAAACTTGATGCAGTGACTCAAGAAGGACAAACTTTGTATGCACATTTGTCTAAACAAATTGTCAGTAGCATTCAAGAACAAATCACAAAGGCCAATGAAGAGTTTCAAGCATTTCTGAAACAATGCCTTAAAGATAAGCAGGCTCTTCAAGACTGTGCTTCAGAACTTGGAAG___CTTTGAAGATCAGCACAGAAAACTGAACTTATGGATCCATGAAATGGAAGAAAGGTTCAATACGGAAAACTTGGGAGAGAGTAAACAGCACATTCCTGAGAAGAAAAATGAAGTTCATAAAGTTGAAATGTTTTTGGGAGAACTGCTGGCTGCAAG___AGAGTCTCTTGATAAGCTTTCCCAGAGAGGGCAGCTTCTGAGTGAAGAAGGCCACGGTGCTGGGCAGGAGGGCCGCCTGTGTTCCCAGCTCCTCACAAGCCACCAGAACCTACTTAGAATGACCAAAGAGAAACTCCGGAGCTGCCAGGTGGCCCTTCAGGAGCACGAAGCCCTGGAGGAAGCACTGCAAAGCATGTGGTTCTGGGTGAAGGCCATTCAGGACAGACTGGCCTGTGCAGAGAGCACTCTTGGGAGCAAAGACACCCTGGAGAAACGGCTGTCACAAATACAG___GATATTCTCCTGATGAAAGGTGAAGGGGAAGTTAAGTTGAATATGGCCATTGGCAAGGGGGAACAGGCCTTGAGAAGTAGCAACAAAGAAGGTCAGAGGGTGATTCAGACTCAGTTAGAGACCCTTAAAGAAGTGTGGGCTGACATCATGAGCTCCTCCGTCCACGCTCAAAG___CACTTTAGAGTCTGTGATTAGCCAATGGAATGACTATGTAGAGAGGAAAAACCAGTTGGAGCAGTGGATGGAATCAGTGGATCAAAAAATAGAACATCCCTTACAACCACAGCCAGGTCTGAAAGAGAAGTTCGTCCTGCTTGACCACCTCCAGTCCATCCTGTCTGAGGCAGAAGATCACACGAGAGCCCTTCACCGTCTAATTGCGAAGTCCAGGGAGCTCTACGAAAAGACAGAGGATGAGTCTTTCAAGGACACAGCTCAAGAGGAGCTGAAAACACAGTTTAATGATATAATGACTGTTGCCAAG___GAAAAAATGAGGAAAGTGGAAGAGATTGTGAAAGATCATCTAATGTATTTAGATGCGGTCCACGAGTTCACAGATTGGCTCCATTCAGCAAAGGAAGAACTTCACCGGTGGTCAGATATGTCTGGAGATTCATCAGCCACCCAGAAAAAGTTATCAAAAATTAAG___GAGCTGATAGATTCCAGAGAGATTGGTGCAAGCCGTCTCAGCAGAGTGGAGTCGCTGGCTCCCGAAGTGAAACAGAACACAACTGCCAGTGGGTGTGAGCTCATGCACACGGAGATGCAGGCCCTGCGTGCCGACTGGAAGCAGTGGGAAGACAGTGTATTCCAAACGCAGAGCTGTTTGGAGAACCTGGTCAGCCAGATGGCCCTTTCGGAGCAGGAATTCTCAGGCCAAGTGGCTCAACTGGAGCAGGCCCTGGAACAGTTCAGTGCCCTTCTGAAAACCTGGGCTCAGCAGTTAACCCTCCTGGAAGGCAAGAACACGGATGAGGAGATAGTGGAATGCTGGCACAAAGGACAA___GAGATACTGGATGCTTTGCAAAAAGCAGAGCCTAGAACAGAGGATCTCAAGTCTCAGCTGAATGAACTTTGTCGATTTTCCAGAGACCTGAGTACCTACAGTGGAAAAGTTTCTGGCTTGATTAAAGAGTATAATTG___TCTTTGTTTGCAAGCATCCAAGGGCTGCCAGAATAAAGAACAGATTTTACAGCAAAGATTTCGAAAGGCCTTCAGGGATTTCCAGCAGTGGTTGGTTAATGCAAAAATCACTACCGCCAAGTGTTTTGATATACCTCAAAATATAAGTGAAGTTTCAACTAGTCTTCAGAAAATACAG___GAGTTTTTGTCAGAAAGTGAAAATGGACAGCACAAGCTAAACATGATGCTGTCTAAAGGGGAACTTCTGAGTACCCTGCTGACCAAAGAGAAAGCGAAAGGGATCCAGGCCAAAGTTACAGCTGCAAAAGAAGATTGGAAAAATTTTCATTCAAATCTCCACCAAAAAGAATCTGCTCTAGAG___AATCTAAAGATCCAAATGAAGGACTTTGAAGTAAGTGCTGAGCCTATCCAGGACTGGCTGAGTAAAACTGAGAAGATGGTCCATGAAAGCAGCAATCGCCTCTATGATCTGCCAGCAAAGAGGAGGGAGCAGCAGAAGCTCCAG___TCTGTCCTTGAGGAAATACACTGCTACGAGCCTCAGCTCAACAGGCTGAAAGAGAAAGCTCAGCAGCTGTGGGAAGGACAAGCTGCCAGCAAGAGCTTTAGGCACAGAGTGTCGCAGCTGTCTTCTCAGTATCTAGCGCTAAGCAATTTAACAAAG___GAGAAAGTGTCAAGACTGGATAGAATCGTTGCAGAACACAATCAGTTCTCTCTTGGGATTAAAGAATTACAAGACTGGATGACGGATGCGATTCACATGCTGGATTCATACTGCCACCCGACATCCGACAAAAGTGTGCTGGACAGCAGGACGCTCAAGCTCGAG___GCTCTATTATCAGTCAAACAGGAAAAAGAGATTCAGATGAAAATGATAGTGACCAGGGGAGAATCTGTCCTTCAGAATACTTCTCCAGAAGGCATTCCCACTATTCAGCAGCAGCTGCAGAGTGTGAAGGATATGTGGGCATCCCTTTTGTCTGCAGGGATTCGTTGTAAAAG___GGTGAGGCTCCCCTGTGCCTATATTGCCCTCAAACTGAGAGTACATCAG___CATGCGGAGCTGCGGGATAAAACAACGATGCTCGGAAAAGCCAAG___GAAGCCGTAACCAAGTCTGAAAAACTTGTCCGCCTGCACCAAGAGTATCAGAGAGACCTAAAGGCATTTGAAGTTTGGTTGGGGCAAGAACAAGAAAAGCTCGACCAGTATTCAGTTCTTGAAGGTGATGCCCACACTCATGAGACAACATTGCGTGATCTTCAG___GAGCTACAGGTACACTGTGCAGAGGGGCAGGCCCTGTTGAACTCAGTGCTGCACACCAGAGAGGATGTGATCCCATCAGGTATCCCACAGGCAGAGGACCGGGCTTTAGAGTCTCTCCGGCAAGACTGGCAGGCTTACCAGCACAGGCTGTCCGAGACTCGAACTCAGTTCAATAACGTGGTGAACAAATTGAGGCTAATGGAGCAAAAGTTTCAGCAAGTAGATGAATGGCTCAAAACAGCAGAGGAGAAAGTTAGTCCCAGGACCAGACGTCAGTCTAACAGGGCAACCAAGGAGATACAATTACATCAGATGAAG___AAGTGGCACGAAGAAGTGACTGCATACAGAGATGAAGTTGAGGAAGTGGGAGCTAGAGCTCAGGAGATACTGGACGAGAGCCACGTGAACAGCAGAATGGGTTGCCAGGCCACCCAGCTGACTTCCAGATACCAGGCCCTGCTTCTCCAAGTGCTG___GAACAAATAAAATTCCTGGAGGAGGAGATTCAGAGTTTGGAGGAATCAGAATCATCCCTCAGTTCCTATTCTGATTGGTATGGCTCTACTCATAAAAACTTCAAGAATGTGGCTACCAAGATTGACAAAGTAGATACAGTAATGATGGGGAAGAAATTGAAGACGTTGGAG___GTTTTGCTCAAAGACATGGAGAAAGGTCACAGTTTGCTGAAATCAGCCCGGGAGAAAGGAGAGAGGGCTGTTAAATACTTGGAGGAAGGCGAGGCAGAGAGGTTAAGAAAGGAGATTCATGATCACATGGAGCAGTTGAAGGAACTGACCAGCACTGTCCGGAAAGAACACATGACGCTGGAAAAA___TCACTTCAACAAACGGTGCTGTCCCATGAACCATCAGTAAAGTCAGTGAGAGAGAAGGGTGAAGCTCTTTTGGAACTGGTGCAGGACGTCACTTTAAAGGACAAAATAGATCAACTTCAAAGTGATTACCAGGACCTGTGCAGCATAGGAAAG___GAGCATGTCTTCAGTCTGGAGGCGAAAGTCAAAGACCATGAAGACTACAACAGTGAGCTCCAAGAGGTCGAAAAGTGGCTGCTGCAGATGTCTGGCAGACTGGTGGCACCTGACCTCCTGGAGACAAGCAGCCTGGAGACAATCACCCAGCAATTGGCCCACCACAAG___ATGTACCAGAGTTTGGAACACGAACTTCAGAAGCACGTCAGCCGACAAGACACCCTGCAGCAGTGCCAGGCCTGGCTTTCTGCAGTCCAGCCGGATTTAGAGCCAAGTCCTCAACCACCTCTTAGTAGGGCAGAAGCCATTAAGCAG___GTCAAACACTTCAGAGCTTTGCAAGAGCAGGCAAGGACCTACCTAGATCTCCTTTGCTCCATGTGTGACCTGTCAAATGCTTCGGTGAAAACCACAGCAAAAGACATTCAACAAACAGAGCAAACG___ATTGAACAAAAGCTTGTCCAGGCCCAGAACTTAACTCAGGGCTGGGAAGAGATCAAGCACCTGAAGTCTGAGCTCTGGATTTACCTGCAAGATGCTGATCAGCAACTGCAGAACATGAAGAGGAGGCACTCTGAGCTGGAGCTGAACATTGCACAGAACATGGTTTCACAAGTTAAG___GATTTTGTTAAGAAACTACAGAGCAAACAGGCATCCGTGAACACCATAATAGAAAAGGTGAATAAGTTAACAAAGAAGGAGGAATCGCCTGAACACAAGGAAATAAATCATTTAAATGATCAGTGGCTCGATTTGTGCCGTCAGTCTAACAACCTGTGCTTGCAAAGGGAAGAGGATCTTCAGAGAACAAGAGATTACCATGACTGTATGAATGTTGTTGAAGTGTTCCTAGAAAAATTTACTACAGAATGGGATAACTTGGCCAG___ATCTGATGCAGAGAGTACAGCTGTCCACCTGGAAGCTTTGAAAAAGTTAGCATTGGCATTGCAGGAGAGAAAGTATGCTATTGAAGATCTGAAAGATCAAAAGCAGAAAATGATAGAGCATCTGAATTTAGATGACAAGGAGTTAGTCAAAGAACAGACGAGTCATTTAGAGCAACGTTGGTTTCAGCTTGAGGACCTCATTAAAAGGAAAATCCAAGTGTCAGTCACCAACTTGGAGGAGTTAAATGTGGTGCAGTCCAGATTTCAGGAGCTAATGGAGTGGGCAGAAGAGCAACAACCCAACATCGCCGAGGCCCTTAAGCAGAGCCCTCCTCCAGATATGGCTCAGAACCTTCTCATGGATCACCTGGCCATCTGCAGTGAACTGGAGGCCAAGCAGATGCTCCTGAAATCGCTTATAAAGGACGCAGACAGGGTCATGGCAGATCTTGGTCTCAATGAGCGACAGGTCATCCAGAAGGCTCTCTCTGATGCACAAAGCCACGTGAATTGTCTCAGTGACTTAGTGGGCCAGCGAAGAAA___GAAGCATTTTAAGGAAGATTTTGATAAAGCTTGCCACTGGCTAAAACAAGCAGATATTGTTACATTTCCTGAAATCAACCTAATGAATGAGAGTTCTGAGCTTCATACACAACTGGCTAAATACCAAAACATTCTTGAACAATCTCCAGAATATGAAAATCTTCTACTTACGCTGCAGAGAACTGGGCAGACCATATTACCATCGCTGAATGAAGTCGATCATTCCTACCTCAGTGAAAAGCTAAATGCTTTGCCTCGACAATTTAATGTAATTGTTGCCTTGGCTAAAGACAAGTTCTATAAAGTCCAGGAAGCAATTCTTGCTCGGAAGGAATATGCTTCCTTGATTGAGTTGACAACCCAGTCTCTGAGTGAACTTGAAGCCCAATTCTTGAGGATGAGCAAAGTTCCCACCGACCTGGCCGTTGAGGAGGCTCTTTCTCTGCAAGATGGTTGCAGAGCCATTCTGGACGAGGTGGCGGGCCTTGGGGAGGCGGTGGATGAACTGAACCAGAAAAAAGAAGGTTTTCGCAGCACAGGTCAGCCTTGGCAGCCAGACAAGATGCTGCACCTTGTCACCTTATATCACAGGCTGAAGCGACAAACAGAACAGAGGGTTAGCTTATTAGAAGACACCACCAGTGCTTACCAAGAACACGAGAAGATGTGCCAACAGCTGGAGAGACAACTGAAGTCTGTAAAAGAGGAGCAGTCCAAAGTGAATGAGGAAACGCTGCCTGCAGAGGAGAAGCTCAAAATGTATCACTCCCTGGCAGGAAGTCTCCAGGACTCAGGGATTGTACTGAAACGAGTAACCATACATCTTGAAGATCTTGCCCCACACCTTGACCCCTTGGCTTATGAGAAAGCCAGGCATCAGATCCAGTCCTGGCAAGGGGAGTTAAAACTGTTGACTTCTGCCATTGGTGAGACGGTGACAGAATGTGAGAGCCGAATGGTGCAGAGTATAGACTTCCAGACTGAGATGAGTCGCTCCCTGGACTGGCTGAGGAGAGTGAAGGCAGAGCTCAGTGGGCCGGTGTACCTAGACCTCAACCTGCAGGACATCCAAGAGGAAATCAGAAAAATCCAAATTCATCAGGAAGAGGTCCAGTCCAGCTTGAGAATCATGAATGCGCTGAGTCACAAGGAAAAGGAGAAGTTCACAAAGGCCAAGGAGCTGATTTCTGCGGATTTAGAACACAGCCTCGCTGAGCTCTCAGAGCTGGATGGAGACATCCAGGAAGCCTTACGCACCAGACAG___GCTACCTTGACTGAAATATATAGCCAGTGTCAAAGGTATTATCAGGTATTTCAAGCAGCCAATGACTGGCTTGAGGATGCCCAAGAATTGTTACAGCTGGCAGGCAATGGCCTAGACGTGGAGAGCGCAGAGGAAAATCTCAAAAGCCACATGGAATTTTTCAGTACAGAGGATCAGTTCCATAGTAACCTGGAGGAGCTCCACAGCCTGGTAGCCACCCTGGACCCACTCATCAAGCCAACCGGCAAAGAAGACCTAGAACAGAAAGTGGCTTCTCTGGAACTCAGGAGCCAGAGGATGAGCCGGGACTCTGGTGCCCAA___GCTTTAGTGTCAGTGGTTAACTCTTTCCATGAGAAAATTGTGGCCCTTGAGGAAAAAGCTTCACAACTGGAGAAAACCGGAAATGATGCCAGCAAAGCCACCCTGAGCAGGTCAATGACCACCGTCTGGCAGCGCTGGACACGCCTTCGAGCTGTGGCCCAGGACCAGGAGAAGATCCTGGAAGATGCAGTGGATGAGTGGACGGGCTTTAACAACAAG___GTTAAAAAGGCCACTGAAATGATTGATCAGCTGCAAGATAAGTTACCTGGAAGTTCAGCAGAGAAAGCATCGAAAGCAGAGCTCTTAACTCTTCTTGAATACCACGACACGTTCGTTCTGGAGCTGGAGCAGCAGCAGTCGGCCTTGGGCATGCTGCGGCAGCAAACCCTGAGCATGCTCCAGGATGGAGCCGCCCCAACCCCTGGGGAAGAGCCTCCGCTCATGCAGGAAATCACCGCCATGCAAGATCGGTGCCTGAA___AATGGTGGAGACTCAGATCAATTCTGTGAAATGTTGGGTTCAGGAAACGAAAGAATATTTAGGGAATCCAACAATAGAAATAGATGCTCAACTTGAAGAACTTCAG___ATTCTCCTAACAGAAGCCACAAATCACCGACAGAACATTGAAAAAATGGCAGAAGAACAGAAGGAGAAGTACTTAGGTCTTTATACCATATTACCTTCTGAACTCTCCCTTCAGTTGGCTGAAGTGGCGTTAGATCTAAAGATCCGAGATCAG___ATCCAAGACAAAATAAAAGAAGTTGAGCAGAGCAAGGCCACGAGCCAGGAACTCAGCCGGCAAATTCAGAAGTTAGCTAAAGACCTCACAACTATTCTAACTAAGCTGAAAGCGAAGACAGATAATGTAGTTCAAGCTAAAACTGACCAAAAG___GCAGCATCACATTTAGAAGAATACAATGAAATGCTTGAATTAATTTTGAAGTGGATTGAAAAAGCTAAAGTCTTGGCTCATGGAACTATTGCATGGAATTCTGCAAGCCAGCTTCGGGAACAATATATTTTGCATCAG___ACCCTGCTAGAAGAATCCAAAGAAATTGACAGTGAGCTGGAAGCAATGACTGAGAAATTACAGTACCTCACTAGCGTGTACTGTACAGAAAAAATGTCTCAGCAAGTGGCAGAACTGGGACGGGAGACTGAGGAGTTGCGACAGATGATCAAAATTCGTTTGCAGAACCTCCAAGATGCAGCTAAG___GATATGAAAAAATTTGAAGCAGAGTTGAAAAAGTTACAAGCTGCCTTGGAGCAAGCCCAGGCAACACTGACTTCTCCAGAAGTTGGACGTCTCAGTCTCAAGGAGCAGCTCTCTCATCGGCAG___CATTTGTTGTCTGAGATGGAGTCACTGAAGCCGAAGGTGCAAGCAGTGCAGCTCTGCCAGAGTGCCCTCCGGATCCCCGAGGATGTGGTTGCCAGCTTACCTCTCTGTCATGCTGCTCTGCGGCTGCAGGAAGAGGCCAGCCGGCTGCAGCACACCGCCATCCAGCAGTGTAACATCATGCAG___GAAGCTGTGGTACAATATGAACAATATGAGCAAGAAATGAAACATCTCCAGCAACTGATAGAAGGAGCTCACAGAGAGATTGAGGATAAACCTGTTGCCACCAGTAACATACAGGAGCTGCAGGCTCAGATTTCTCGGCATGAG___GAGCTGGCGCAGAAAATTAAGGGCTACCAGGAGCAGATCGCTTCTTTGAATTCCAAGTGCAAGATGCTGACGATGAAAGCCAAGCACGCCACCATGCTGCTGACGGTGACCGAGGTCGAGGGGCTGGCGGAAGGGACAGAGGACCTGGATGGGGAGCTCCTCCCCACGCCTTCGGCCCACCCCTCTGTGGTCATG___ATGACTGCAGGTCGCTGTCACACTTTGCTGTCACCGGTCACTGAGGAGTCTGGGGAGGAGGGAACCAACAGTGAGATTTCCTCTCCACCTGCCTGTCGCTCCCCTTCACCTGTGGCTAATACAGATGCTTCTGTTAACCAG___GACATTGCATATTACCAAGCCTTGTCTGCTGAGAGGTTGCAGACAGATGCTGCAAAAATTCACCCCAGCACATCCGCATCCCAGGAGTTCTATGAACCGGGATTGGAGCCATCCGCTACTGCCAAACTGGGTGATTTGCAGCGTTCTTGGGAAACCTTAAAGAATGTG___ATCAGTGAGAAGCAGCGCACACTCTATGAAGCTTTGGAACGCCAGCAGAAGTACCAGGACTCCCTCCAGTCCATCTCTACGAAGATGGAGGCCATTGAGCTGAAACTCAGTGAGAGCCCAGAGCCTGGCAGGAGTCCAGAAAGCCAGATGGCTGAACATCAG___GCATTGATGGATGAGATTCTCATGCTCCAGGATGAAATCAATGAGCTCCAGTCCTCTCTCGCAGAGGAGCTGGTATCCGAGTCTTGTGAGGCCGACCCTGCGGAGCAGCTGGCCTTGCAGTCCACGCTCACTGTCTTAGCCGAGCGAATGTCCACCATCAGGATGAAAGCCTCGGGGAAACGGCAGCTTTTGGAG___GAGAAGTTGAATGATCAGCTGGAGGAACAAAGGCAGGAACAGGCCCTGCAGAGGTATCGCTGTGAAGCCGATGAGCTGGACAGCTGGCTCTTGAGTACCAAGGCCACTCTGGACACTGCGCTGAGTCCACCCAAGGAGCCCATGGACATGGAGGCCCAGCTTATGGACTGCCAG___AATATGCTGGTGGAAATAGAGCAGAAGGTGGTGGCTTTATCAGAACTGTCAGTCCACAATGAGAACCTGCTGCTGGAGGGCAAAGCTCACACCAAGGACGAGGCCGAGCAGCTGGCTGGAAAGCTGAGAAGGCTCAAGGGGAGCCTGCTGGAGCTGCAGAGAGCCCTGCATGATAAGCAGCTCAACATGCAG___GGAACAGCACAGGAGAAGGAGGAGAGCGATGTTGACCTAACAGCCACGCAGAGCCCCGGCGTCCAGGAATGGCTGGCCCAAGCTCGCACCACATGGACCCAGCAGCGGCAGAGCAGTCTCCAGCAACAAAAA___GAGTTAGAACAGGAATTAGCCGAGCAGAAGAGTCTCCTTCGCTCAGTAGCCAGTCGTGGAGAGGAGATTCTAATTCAACATTCGGCGGCAGAGACCTCTGGTGATGCTGG___CGAAAAACCTGATGTGTTATCCCAGGAGTTGGGGATGGAAGGGGAGAAATCATCCGCTGAAGACCAGATGAGAATGAAATGGGAAAGCCTACATCAAGAATTTAGTACCAAGCAGAAACTACTACAGAATGTTCTGGAACAGGAACAAGAGCAAGTG___CTTTATAGCAGGCCAAATCGACTCTTGTCTGGTGTGCCACTGTACAAAGGGGACGTGCCAACCCAAGATAAATCTGCAGTTACATCTTTGCTGGATGGACTGAACCAAGCCTTCGAGGAGGTTTCATCCCAG___AGTGGAGGGGCAAAGAGGCAGAGTATACACTTGGAGCAGAAGTTGTATGATGGAGTCTCAGCCACCTCTACTTGGTTGGATGACGTTGAAGAACGTTTATTTGTTGCCACAGCACTTTTACCAGAAGAAACAGAGACTTGTCTCTTCAACCAAGAG___ATTCTTGCCAAAGACATTAAGGAAATGTCTGAAGAAATGGATAAGAACAAAAACTTGTTTTCCCAAGCTTTTCCAGAGAATGGTGATAATCGAGATGTTATTGAAGATACTTTGGGTTGTCTTTTGGGCAGGTTATCCTTGCTAGACTCAGTAGTGAATCAACGATGTCATCAGATGAAAGAAAGACTTCAGCAAATACTAAATTTCCAG___AATGATCTGAAAGTGCTGTTTACATCACTGGCTGACAACAAATACATCATTCTGCAAAAACTGGCAAATGTGTTTGAACAGCCCGTAGCAGAACAAATAGAG___GCAATACAACAGGCTGAAGATGGACTCAAAGAATTTGATGCAGGAATCATTGAATTAAAGAGGCGTGGTGACAAGCTACAGGTCGAGCAGCCGTCCATGCAAGAACTCTCCAAGCTCCAG___GACATGTATGATGAGCTGATGATGATCATTGGCTCCCGGAGGAGTGGTCTGAATCAGAACCTTACACTCAAGAGTCAGTATGAGAGGGCCCTACAAGATCTGGCTGACCTGCTAGAAACTGGTCAGGAGAAGATGGCAGGAGACCAGAAAATCATCGTGTCTTCCAAAGAGGAAATCCAGCAACTACTTGACAAACATAAG___GAATACTTTCAGGGCCTGGAATCTCATATGATCTTGACTGAAACACTCTTCAGAAAGATAATCAGCTTTGCAGTCCAAAAGGAAACCCAGTTCCATACAGAGCTGATGGCTCAGGCTTCTGCTGTACTGAAACGGGCTCACAAGAGGGGTGTGGAGCTGGAGTACATTCTAGAG___ACGTGGTCCCATCTGGATGAGGACCAGCAGGAGCTCAGCAGACAGCTGGAGGTGGTGGAAAGCAGCATCCCAAGCGTGGGTCTGGTGGAGGAGAACGAGGACAGGCTTATTGACCGCATAACACTCTACCAG___CATTTAAAATCTAGCCTTAATGAATACCAGCCCAAATTATATCAAGTATTAGATGATGGGAAACGACTTCTGATATCCATCAGCTGCTCAGATCTAGAAAGCCAACTAAATCAACTTGGAGAGTGCTGGCTAAGTAACACCAATAAAATGTCTAAGGAACTTCACAGACTGGAAACAATATTGAAACACTGGACCAG___ATATCAAAGTGAATCTGCAGATCTAATTCACTGGTTACAATCTGCAAAAGACCGGCTAGAATTTTGGACTCAGCAATCTGTGACAGTCCCACAAGAGCTGGAAATGGTCCGTGATCATCTAAATGCTTTCCTG___GAGTTTTCTAAAGAAGTGGATGCCCAATCTTCCCTGAAATCATCTGTTCTGAGTACTGGAAATCAGCTCCTTCGACTAAAAAAGGTGGACACAGCCACGCTGCGCTCTGAGCTGTCGCGCATTGATAGCCAGTGGACTGACCTGCTAACCAATATCCCAGCCGTCCAGGAGAAGCTCCACCAG___CTCCAGATGGATAAACTGCCTTCCCGCCATGCCATTTCTGAAGTCATGAGTTGGATTTCTCTAATGGAAAATGTTATTCAGAAGGATGAAGATAATATTAAAAATTCCATAGGTTACAAGGCAATTCATGAATACCTTCAGAAATATAAG___GGTTTTAAGATAGACATTAACTGTAAACAGCTGACAGTGGATTTTGTGAACCAGTCCGTGCTACAAATCAGCAGTCAGGATGTGGAAAGTAAGCGTAGTGATAAGACTGATTTTGCTGAGCAACTTGGAGCAATGAATAAAAGTTGGCAAATTCTGCAAGGTCTAGTAACTGAGAAG___ATCCAGCTGTTGGAAGGCTTATTGGAATCTTGGTCAGAATATGAAAATAATGTACAATGTCTGAAAACATGGTTTGAAACCCAGGAAAAGAGACTAAAACAACAGCATCGAATTGGAGATCAGGCTTCTGTTCAAAATGCACTGAAAGACTGTCAG___GATCTGGAAGATTTGATTAAAGCAAAAGAAAAAGAAGTAGAGAAAATTGAGCAGAATGGACTTGCTTTGATTCAGAACAAGAAAGAAGACGTCTCTAGCATTGTCATGAGCACACTGCGAGAGCTCGGCCAAACCTGGGCAAATTTAGATCACATG___GTTGGACAATTAAAGATACTGCTGAAATCAGTGCTTGACCAATGGAGTAGTCACAAAGTGGCCTTTGACAAGATAAACAGTTACCTCATGGAGGCCAGATACTCTCTTTCCCGATTCCGTCTGCTGACTGGCTCCTTAGAAGCTGTGCAAGTTCAGGTGGACAATCTTCAG___AATCTCCAAGATGATCTGGAAAAACAGGAAAGGAGCTTACAGAAATTTGGCTCTATCACCAACCAATTATTAAAAGAGTGTCACCCACCCGTGACAGAAACTCTTACCAATACACTGAAAGAAGTCAACATGAG___ATGGAATAACTTGCTGGAAGAGATTGCTGAGCAGCTACAGTCCAGCAAGGCCCTACTTCAGCTTTGGCAAAGATACAAGGACTACTCCAAACAGTGTGCTTCGACAGTTCAGCAGCAGGAGGATCGAACCAATGAGCTGTTGAAGGCAGCCACAAACAAGGACATTGCCGATGATGAGGTTGCCACATGGATTCAAGATTGCAAC___GACCTCCTCAAAGGACTGGGCACAGTTAAAGATTCCCTCTTTTTTCTCCATGAGCTGGGAGAGCAACTGAAGCAACAAGTGGATGCTTCCGCAGCATCAGCTATTCAATCGGATCAACTCTCTTTGAGTCAACACTTGTGTGCCCTGGAGCAAGCTCTCTGCAAACAGCAGACTTCATTACAG___GCTGGAGTTCTTGATTATGAAACCTTTGCCAAGAGTTTAGAAGCTTTGGAGGCCTGGATAGTGGAAGCTGAAGAAATACTACAAGGGCAGGACCCTAGCCACTCATCTGACCTCTCCACAATCCAGGAAAGGATGGAAGAACTTAAG___GGACAGATGTTAAAATTCAGCAGCATGGCTCCAGATTTAGACCGTCTAAATGAGCTTGGATATAGGTTACCCTTGAATGATAAGGAAATCAAAAGAATGCAGAATCTGAACCGCCATTGGTCTCTGATCTCCTCTCAGACTACAGAAAGATTCAG___CAAGTTGCAGTCATTTTTGCTACAACATCAGACTTTCT)TGGAAAAATGTGAAACATGGATGGAATTCCTAGTTCAGACAGAACAAAAGTTAGCAGTAGAGATTTCAGGAAATTATCAGCACCTTTTGGAACAGCAGAGAGCACACGAG___TTGTTTCAAGCCGAGATGTTCAGTCGTCAGCAGATTTTGCACTCAATCATTATTGATGGGCAACGTCTTCTAGAACAAGGTCAAGTTGATGACAG|AGAGTGCTAAACTCAGAAAGGCAAAACAAGGTTAGAATGAAGCCCATGCAAAGAAAATATGGACCTGAAGAAAAACAAGCTATGGACTATCTTCTGTCTCATGCTAGCAGTGGAATAGGAAAAGGACTCAAAAGACTTCTACTGGCCATAATGAAGTACCTGTTACTATATTTGCTTTCCTACCATAAGCAACTATAAAACTGGACAATATATAGGCAACTGATCTCATGCATTTCAAGCAGCACAGGATTCTGATAATTAACAGAAGGAAAGCAC MQRLQDEQEIVQKRTFTKWINSHLAKRKPPMVVDDLFEDMKDGVKLLALLEVLSGQKLPCEQGRRMKRIHAVANIGTALKFLEGRKIKLVNINSTDIADGRPSIVLGLMWTIILYFQIEELTSNLPQLQSLSSSASSVDSIVSSETPSPPSKRKVTTKIQGNAKKALLKWVQYTAGKQTGIEVKDFGKSWRSGVAFHSVIHAIRPELVDLETVKGRSNRENLEDAFTIAETELGIPRLLDPEDVDVDKPDEKSIMTYVAQFLKHYPDIHNASTDGQEDDEILPGFPSFANSVQNFKREDRVIFKEMKVWIEQFERDLTRAQMVESNLQDKYQSFKHFRVQYEMKRKQIEHLIQPLHRDGKLSLDQALVKQSWDRVTSRLFDWHIQLDKSLPAPLGTIGAWLYRAEVALREEITVQQVHEETANTIQRKLEQHKRKCQTIMDLLQNTDAHKRAFHEIYRTRSVNGIPVPPDQLEDMAERFHFVSSTSELHLMKMEFLELKYRLLSLLVLAESKLKSWIIKYGRRESVEQLLQNYVSFIENSKFFEQYEVTYQILKQTAEMYVKADGSVEEAENVMKFMNETTAQWRNLSVEVRSVRSMLEEVISNWDRYGNTVASLQAWLEDAEKMLNQSENAKKDFFRNLPHWIQQHTAMNDAGNFLIETCDEMVSRDLKQQLLLLNGRWRELFMEVKQYAQADEMDRMKKEYTDCVVTLSAFATEAHKKLSEPLEVSFMNVKLLIQDLEDIEQRVPVMDAQYKIITKTAHLITKESPQEEGKEMFATMSKLKEQLTKVKECYSPLLYESQQLLIPLEELEKQMTSFYDSLGKINEIITVLEREAQSSALFKQKHQLRILKCKWCNSSQKMTLCLVLGSMISMLSTAKITIAGYKSEVEVSELLACQENCKKTLTLIEKGSQSVQKFVTLSNVLKHFDQTRLQTDCRYSCCFSVMRKQHHIMIVFHIKSMVKKTGDWKKHVETNSRLMKKFEESRAELEKVLRIAQEGLEEKGDPEELLRRHTEFFSQLDQRVLNAFLKACDELTDILPEQEQQGLQEAVRKLHKQWKDLQGEAPYHLLHLKIDVEKNRFLASVEECRTELDRETKLMPQEGSEKIIKEHRVFFSDKGPHHLCEKRLQLIEELCVKLPVRDPVRDTPGTCHVTLKELRAAIDSTYRKLMEDPDKWKDYTSRFSEFSSWISTNETQLKGIKGEAIDTANHGEVKRAVEEIRNGVTKRGETLSWLKSRLKVLTEVSSENEAQKQGDELAKLSSSFKALVTLLSEVEKMLSNFGDCVQYKEIVKNSLEELISGSKEVQEQAEKILDTENLFEAQQLLLHHQQKTKRISAKKRDVQQQIAQAQQGEGGLPDRGHEELRKLESTLDGLERSRERQERRIQVTLRKWERFETNKETVVRYLFQTGSSHERFLSFSSLESLSSELEQTKEFSKRTESIAVQAENLVKEASEIPLGPQNKQLLQQQAKSIKEQVKKLEDTLEEEYVIDNKTMEMVKTKWDHFGSNFETLSVWITEKEKELNALETSSSAMDMQISQIKVTIQEIESKLSSIVGLEEEAQSFAQFVTTGESARIKAKLTQIRRYGEELREHAQCLEGTILGHLSQQQKFEENLRKIQQSVSEFEDKLAVPIKICSSATETYKVLQEHMDLCQALESLSSAITAFSASARKVVNRDSCVQEAAALQQQYEDILRRAKERQTALENLLAHWQRLEKELSSFLTWLERGEAKASSPEMDISADRVKVEASKDDVKMMKLHLEQLDERWRDLPQIINKRINFLQSVVAEHQQFDELLLSFSVWIKLFLSELQTTSEISIMDHQVALTRHKDHAAEVESKKGELQSLQGHLAKLGSLGRAEDLHLLQGKAEDCFQLFEEASQVVERRQLALSHLAEFLQSHASLSGILRQLRQTVEATNSMNKNESDLIEKDLNDALQNAKALESAAVSLDGILSKAQYHLKIGSSEQRTSCRATADQLCGEVERIQNLLGTKQSEADALAVLKKAFQDQKEELLKSIEDIEERTDKERLKEPTRQALQQRLRVFNQLEDELNSHEHELCWLKDKAKQIAQKDVAFAPEVDREINRLEVTWDDTKRLIHENQGQCCGLIDLMREYQNLKSAVSKVLENASSVIVTRTTIKDQEDLKWAFSKHETAKNKMNYKQKDLDNFTSKGKHLLSELKKIHSSDFSLVKTDMESTVDKWLDVSEKLEENMDRLRVSLSIWDDVLSTRDEIEGWSNNCVPQMAENISNLDNHLRAEELLKEFESEVKNKALRLEELHSKVNDLKELTKNLETPPDLQFIEADLMQKLEHAKEITEVAKGTLKDFTAQSTQVEKFINDITTWFTKVEESLMNCAQNETCEALKKVKDIQKELQSQQSNISSTQENLNSLCRKYHSAELESLGRAMTGLIKKHEAVSQLCSKTQASLQESLEKHFSEESMQEFQEWFLGAKAAAKESSDRTGDSKVLEAKLHDLQQNILDSVSDGQSKLDAVTQEGQTLYAHLSKQIVSSIQEQITKANEEFQAFLKQCLKDKQALQDCASELGSFEDQHRKLNLWIHEMEERFNTENLGESKQHIPEKKNEVHKVEMFLGELLAARESLDKLSQRGQLLSEEGHGAGQEGRLCSQLLTSHQNLLRMTKEKLRSCQVALQEHEALEEALQSMWFWVKAIQDRLACAESTLGSKDTLEKRLSQIQDILLMKGEGEVKLNMAIGKGEQALRSSNKEGQRVIQTQLETLKEVWADIMSSSVHAQSTLESVISQWNDYVERKNQLEQWMESVDQKIEHPLQPQPGLKEKFVLLDHLQSILSEAEDHTRALHRLIAKSRELYEKTEDESFKDTAQEELKTQFNDIMTVAKEKMRKVEEIVKDHLMYLDAVHEFTDWLHSAKEELHRWSDMSGDSSATQKKLSKIKELIDSREIGASRLSRVESLAPEVKQNTTASGCELMHTEMQALRADWKQWEDSVFQTQSCLENLVSQMALSEQEFSGQVAQLEQALEQFSALLKTWAQQLTLLEGKNTDEEIVECWHKGQEILDALQKAEPRTEDLKSQLNELCRFSRDLSTYSGKVSGLIKEYNCLCLQASKGCQNKEQILQQRFRKAFRDFQQWLVNAKITTAKCFDIPQNISEVSTSLQKIQEFLSESENGQHKLNMMLSKGELLSTLLTKEKAKGIQAKVTAAKEDWKNFHSNLHQKESALENLKIQMKDFEVSAEPIQDWLSKTEKMVHESSNRLYDLPAKRREQQKLQSVLEEIHCYEPQLNRLKEKAQQLWEGQAASKSFRHRVSQLSSQYLALSNLTKEKVSRLDRIVAEHNQFSLGIKELQDWMTDAIHMLDSYCHPTSDKSVLDSRTLKLEALLSVKQEKEIQMKMIVTRGESVLQNTSPEGIPTIQQQLQSVKDMWASLLSAGIRCKRVRLPCAYIALKLRVHQHAELRDKTTMLGKAKEAVTKSEKLVRLHQEYQRDLKAFEVWLGQEQEKLDQYSVLEGDAHTHETTLRDLQELQVHCAEGQALLNSVLHTREDVIPSGIPQAEDRALESLRQDWQAYQHRLSETRTQFNNVVNKLRLMEQKFQQVDEWLKTAEEKVSPRTRRQSNRATKEIQLHQMKKWHEEVTAYRDEVEEVGARAQEILDESHVNSRMGCQATQLTSRYQALLLQVLEQIKFLEEEIQSLEESESSLSSYSDWYGSTHKNFKNVATKIDKVDTVMMGKKLKTLEVLLKDMEKGHSLLKSAREKGERAVKYLEEGEAERLRKEIHDHMEQLKELTSTVRKEHMTLEKSLQQTVLSHEPSVKSVREKGEALLELVQDVTLKDKIDQLQSDYQDLCSIGKEHVFSLEAKVKDHEDYNSELQEVEKWLLQMSGRLVAPDLLETSSLETITQQLAHHKMYQSLEHELQKHVSRQDTLQQCQAWLSAVQPDLEPSPQPPLSRAEAIKQVKHFRALQEQARTYLDLLCSMCDLSNASVKTTAKDIQQTEQTIEQKLVQAQNLTQGWEEIKHLKSELWIYLQDADQQLQNMKRRHSELELNIAQNMVSQVKDFVKKLQSKQASVNTIIEKVNKLTKKEESPEHKEINHLNDQWLDLCRQSNNLCLQREEDLQRTRDYHDCMNVVEVFLEKFTTEWDNLARSDAESTAVHLEALKKLALALQERKYAIEDLKDQKQKMIEHLNLDDKELVKEQTSHLEQRWFQLEDLIKRKIQVSVTNLEELNVVQSRFQELMEWAEEQQPNIAEALKQSPPPDMAQNLLMDHLAICSELEAKQMLLKSLIKDADRVMADLGLNERQVIQKALSDAQSHVNCLSDLVGQRRKKHFKEDFDKACHWLKQADIVTFPEINLMNESSELHTQLAKYQNILEQSPEYENLLLTLQRTGQTILPSLNEVDHSYLSEKLNALPRQFNVIVALAKDKFYKVQEAILARKEYASLIELTTQSLSELEAQFLRMSKVPTDLAVEEALSLQDGCRAILDEVAGLGEAVDELNQKKEGFRSTGQPWQPDKMLHLVTLYHRLKRQTEQRVSLLEDTTSAYQEHEKMCQQLERQLKSVKEEQSKVNEETLPAEEKLKMYHSLAGSLQDSGIVLKRVTIHLEDLAPHLDPLAYEKARHQIQSWQGELKLLTSAIGETVTECESRMVQSIDFQTEMSRSLDWLRRVKAELSGPVYLDLNLQDIQEEIRKIQIHQEEVQSSLRIMNALSHKEKEKFTKAKELISADLEHSLAELSELDGDIQEALRTRQATLTEIYSQCQRYYQVFQAANDWLEDAQELLQLAGNGLDVESAEENLKSHMEFFSTEDQFHSNLEELHSLVATLDPLIKPTGKEDLEQKVASLELRSQRMSRDSGAQALVSVVNSFHEKIVALEEKASQLEKTGNDASKATLSRSMTTVWQRWTRLRAVAQDQEKILEDAVDEWTGFNNKVKKATEMIDQLQDKLPGSSAEKASKAELLTLLEYHDTFVLELEQQQSALGMLRQQTLSMLQDGAAPTPGEEPPLMQEITAMQDRCLKMVETQINSVKCWVQETKEYLGNPTIEIDAQLEELQILLTEATNHRQNIEKMAEEQKEKYLGLYTILPSELSLQLAEVALDLKIRDQIQDKIKEVEQSKATSQELSRQIQKLAKDLTTILTKLKAKTDNVVQAKTDQKAASHLEEYNEMLELILKWIEKAKVLAHGTIAWNSASQLREQYILHQTLLEESKEIDSELEAMTEKLQYLTSVYCTEKMSQQVAELGRETEELRQMIKIRLQNLQDAAKDMKKFEAELKKLQAALEQAQATLTSPEVGRLSLKEQLSHRQHLLSEMESLKPKVQAVQLCQSALRIPEDVVASLPLCHAALRLQEEASRLQHTAIQQCNIMQEAVVQYEQYEQEMKHLQQLIEGAHREIEDKPVATSNIQELQAQISRHEELAQKIKGYQEQIASLNSKCKMLTMKAKHATMLLTVTEVEGLAEGTEDLDGELLPTPSAHPSVVMMTAGRCHTLLSPVTEESGEEGTNSEISSPPACRSPSPVANTDASVNQDIAYYQALSAERLQTDAAKIHPSTSASQEFYEPGLEPSATAKLGDLQRSWETLKNVISEKQRTLYEALERQQKYQDSLQSISTKMEAIELKLSESPEPGRSPESQMAEHQALMDEILMLQDEINELQSSLAEELVSESCEADPAEQLALQSTLTVLAERMSTIRMKASGKRQLLEEKLNDQLEEQRQEQALQRYRCEADELDSWLLSTKATLDTALSPPKEPMDMEAQLMDCQNMLVEIEQKVVALSELSVHNENLLLEGKAHTKDEAEQLAGKLRRLKGSLLELQRALHDKQLNMQGTAQEKEESDVDLTATQSPGVQEWLAQARTTWTQQRQSSLQQQKELEQELAEQKSLLRSVASRGEEILIQHSAAETSGDAGEKPDVLSQELGMEGEKSSAEDQMRMKWESLHQEFSTKQKLLQNVLEQEQEQVLYSRPNRLLSGVPLYKGDVPTQDKSAVTSLLDGLNQAFEEVSSQSGGAKRQSIHLEQKLYDGVSATSTWLDDVEERLFVATALLPEETETCLFNQEILAKDIKEMSEEMDKNKNLFSQAFPENGDNRDVIEDTLGCLLGRLSLLDSVVNQRCHQMKERLQQILNFQNDLKVLFTSLADNKYIILQKLANVFEQPVAEQIEAIQQAEDGLKEFDAGIIELKRRGDKLQVEQPSMQELSKLQDMYDELMMIIGSRRSGLNQNLTLKSQYERALQDLADLLETGQEKMAGDQKIIVSSKEEIQQLLDKHKEYFQGLESHMILTETLFRKIISFAVQKETQFHTELMAQASAVLKRAHKRGVELEYILETWSHLDEDQQELSRQLEVVESSIPSVGLVEENEDRLIDRITLYQHLKSSLNEYQPKLYQVLDDGKRLLISISCSDLESQLNQLGECWLSNTNKMSKELHRLETILKHWTRYQSESADLIHWLQSAKDRLEFWTQQSVTVPQELEMVRDHLNAFLEFSKEVDAQSSLKSSVLSTGNQLLRLKKVDTATLRSELSRIDSQWTDLLTNIPAVQEKLHQLQMDKLPSRHAISEVMSWISLMENVIQKDEDNIKNSIGYKAIHEYLQKYKGFKIDINCKQLTVDFVNQSVLQISSQDVESKRSDKTDFAEQLGAMNKSWQILQGLVTEKIQLLEGLLESWSEYENNVQCLKTWFETQEKRLKQQHRIGDQASVQNALKDCQDLEDLIKAKEKEVEKIEQNGLALIQNKKEDVSSIVMSTLRELGQTWANLDHMVGQLKILLKSVLDQWSSHKVAFDKINSYLMEARYSLSRFRLLTGSLEAVQVQVDNLQNLQDDLEKQERSLQKFGSITNQLLKECHPPVTETLTNTLKEVNMRWNNLLEEIAEQLQSSKALLQLWQRYKDYSKQCASTVQQQEDRTNELLKAATNKDIADDEVATWIQDCNDLLKGLGTVKDSLFFLHELGEQLKQQVDASAASAIQSDQLSLSQHLCALEQALCKQQTSLQAGVLDYETFAKSLEALEAWIVEAEEILQGQDPSHSSDLSTIQERMEELKGQMLKFSSMAPDLDRLNELGYRLPLNDKEIKRMQNLNRHWSLISSQTTERFSKLQSFLLQHQTFLEKCETWMEFLVQTEQKLAVEISGNYQHLLEQQRAHELFQAEMFSRQQILHSIIIDGQRLLEQGQVDDr|ec* 11BR059 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 6 0 20 17 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream low_entropy(1),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GG)GTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR059 ENSG00000111196.10 ENSG00000256888.6 -/- +/- chr12:10607854 chr12:10757825 CDS/splice-site intron duplication/5'-5' 6 5 0 72 22 high out-of-frame . . . . ENSG00000111196.10 ENSG00000256888.6 ENST00000320756.7 . upstream downstream . ^(ATTCCGCGCGATGACGTCACTGCAAGGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCGCTACTACGTAGGGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACG___GAAAGCTTAGATATGCCAACAACAGCAATTACAAAAATGATGTCATGATCAGAAAAGAG___GCTTATGTGCACAAGAGTGTAATGGAAGAACTGAAG)AGAATTATTGATGACAGTGAAATTACAAAAGAAGATGATGCTTTGTGGCCTCCCCCTGATAGGGTTGGCCGACAG___GAGCTTGAAATTGTAATTGGAGATGAGCACATATCTTTTACCACATCAAAAATAGGTTCTCTTATTGATGTAAATCAGTCAAA|CCATCTCCCCACTTCCAGAATCTTCTAACAACAATAACAATAGAACATCTGTCATTTTCGCAATGGAATACATGTCTCCAAAGTCCTGAATTATCCTGCCT MAVASDFYLRYYVGHKGKFGHEFLEFEFRPDGKLRYANNSNYKNDVMIRKEAYVHKSVMEELKRIIDDSEITKEDDALWPPPDRVGRQELEIVIGDEHISFTTSKIGSLIDVNQSn|hlptsrif* 11BR059 ENSG00000146143.19 ENSG00000236740.6 +/+ +/+ chr6:57326045 chr6:53982758 CDS/splice-site exon/splice-site duplication 2 7 1 39 13 high out-of-frame . . . . ENSG00000146143.19 ENSG00000236740.6 ENST00000672107.1 ENST00000431554.2 downstream upstream . ^(ATATGAACTCTCCCGCCACCCGGGAACAGTGGCTGCCACCGTTTGTGTTTTCCCGAGTTTGAATTCTTGCAG___GTGACCAAGATGGAGTTTTCTGGAAGAAAGTGGAGGAAGCTGAGGTTGGCAGGTGACCAGAGGAATGCTTCCTACCCTCATTGCCTTCAGTTTTACTTGCAGCCACCTTCTGAAAACATATCTTTAATAGAATTTGAAAACTTGGCTATTGATAGAGTTAAAT___TGTTAAAATCAGTTGAAAATCTTGGAGTGAGCTATGTGAAAGGAACTGAACAATACCAGAGTAAGTTGGAGAGTGAGCTTCGGAAGCTCAAGTTTTCCTACAGA___GAAAACTTAGAAGATGAATATGAACCACGAAGAAGAGATCATATTTCTCATTTTATTTTGCGG)CTTGCTTATTGCCAGTC___TGAAGAACTTAGACGCTGGTTCATTCAACAAGAAATGGATCTCCTTCGATTTAGATTTAGTATTTTACCCAAGGATAAAATTCAGGATTTCTTAAAGGATAGCCAATTGCAGTTTGAGGCT|GAAAGCACTGTCTTAGAACCTGGCTCACCTGATTTTGCCGATGAGTCAACTTTGAAGTGTGCCTCATTCTGGAAAGTGAATCACGTAATCACA___ATGGAGTCTCCC(TCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAG___TAGATACGGGGTTTCATCATGTTGGCCAGGCTGATTTCGAACTCCTGACCTCAAGAGAGCTGCCCGCCTCGACTTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCACACCCAGCCTCATATATTGTATTCTGTATATAATTAAGACCTTTCCTTTTCAAGGCAATATATATAACAATAAAAAGATGAATTAAGTAAGCCCTCTGAATTAATATATTAAGTGGTCCCTCAGAAGGGAGAAATTTTGAAATTAAATATTATCTAAAGATTTTGATATTCACTTAATGGGAGTATCTGAATTAAGTGTCACAACTAAAATAGTAGAGTGGTCACATTCCCTAGCACCAGTTCTCAAACTTTGTTAAAAATGCAGATTCCTGAGCTCTATCATTAAACATTTTTATTTAGAAGTGGGGAGTGTGGCCTTCGTATTTCAGCTGCTTAACTAGTAGCACAGCGAAGACGGTATAAGGGTCTTTGGATCACTTTTTGAAAAGCATGGTCTTAGAGAGAAGGAACAGCCCACACTCGTTCACAGTGTAGCAACACGCGGGAAAGAGAACAGTCAAATTGTTTTGATGATGACGAAAGGAAATGCAGGCTTTCTAGTATATACAAAACATATTCAAAAATCTAGAAGTTTATCACTAAGGTTTTTGGAAGTAAATCTACATTTAGCAACTCAATTTTTTAGATTTTATTCTCAATTATCTGGACATGAGATTTAGGTCTGTGATTCTCAGGTCTTCTTAGTTATACATATCACTCAAGGAGCTATGGACTCCAAATGACTTATGTTTGTGATAAAGCCTCATTTACCCCACAATAATAGGAAAGCTGCTCTGATTTTCTGAAGTTAGAAATGAAAGATTAAGTAAGTACATTTGTTATAGTTTAATATTACACATTGTATGATGAAAACATTGTCTCCTACACTGCCTCCTATTATCTGGAAAATTAGTAATACTAAAGTGTTCTTTCAAAACCAGAGACCTAAATGGCTGGAAGCAATAATTGCTAGAGCTCTCCACCAAGCTTTGACTATAAATATTTGGCCATATTGTGTGTTAGAAAATATAAGACACACTTGCTTTCATTTTCTGAGCCTGACTCACTGAATTTTCTTGTCCAGATTGGTTTTCATCTGTTTATTCCTTTAGAGCATAGATTAGAGTCCATTGTGGTTCTCATCTCTGTTATGCATGTTTTTTTATGAATAAAATGCCAGGCACACAGAGCATACATATGCACATTTTACTACGAGATAGTAAAAGCTCAATGTGCTGGGACTGCATTCCCAATGTGACCTTATTTTCCCACTCTTTGCAGTTTTAAAATGTTACGTTAATCTGGCGTTCTGGACGGGGATTTTCTCTTCTTTACAGTGAGTCCCAGCAGTATATAGCGGCCATAGAATAGCTAAACTTGAAGAGGCTTTTTGGCAAAGATTTGAATATATGTCCTTTGGCCTTTTCTGGTTCTTGTCTGTATTTCATAATACAAAACTAATGAGGATTTCACTTTGGTGAAATCTGCCTTACTAAATGATGCTTGCAAATAACACATTCATTTGTTAGCATTTGGGATTCTGATTAAATCATTTTGCTTTAGTAGCTGTTAAAGATTATAGTTTGAAAGAAAAAAGTGTTTTGGCATTGAGTACTTTGAGACCCCTGTACAGTGTACCAAAATCTATGCAAATTGTTACGAGGCCTTTTAATTACAGGTGAACCCCAGCACTTATTATCATCTGATGCACAGATTATGCACATGTCATATATTGGTAATAAAATATCAAAGTTAGACTGACACTCTTAAAGTGCTTAACACTGTTTTATTGGCTTACTAGCCCTAACTGGATTCATTGCATCCATTTTTTTCATTCTGCCACTTAAAACATTTGCCACGTTGTTTTATTCATGCTTTTATCACAGCTTTGTCTGTAACTACATTGACTTGATTACTCATATTCTATGGCAATTCCTGACATTTGGCTTATTTTTCCACTAGCCTCCTTACTTTTAAAAACCACTCCATCTCATTTTTCAACAACCTCTGATTATCTCAAAGTTACCTCGGATTATCCTGACACGTCCTTCGGCTTCTGAGGATATTGACTCAGTATTTCAAGACTGAGGTGACTCTGAGACAGAAGACGGAGCCAGTGGTGATGTGCTCCCTTATTCAGACTCTTTGAATAATGCTTTTTACTCAGCTATGGACTCTGCTAGAAAGACACTTTAATATTTTTGCCATTTATATTTTTCTGTTGTTGAAAAATAATAGAAACCAGTGCCTTAGTTGGTTTAACAATTCAACAAAGTTGTTTTCAAAAGAAGAAAGAAAATGTAACTCCATTTAGGTTGTCTTTCATTTGCAAACACTAACTGAAACTTGAGTTAGGGATTGTATAACTTGGAAACAGTATTAATAAAATGAAGTCATTGTCATATTAAAAATGTCCTAATGTTCACTTTAAGTGTATTTTTAAAAACCTCACAGGCAATGGTGTGAAAGAAACCAAGGAGATGTTTACATTCATTAGTTCCACTGGAAAAAACTGGTTAATGTAATTGTATAGATTTTTCCCTTCTTGTTTTGTGTGCTGTATAACCCAGTCTTTGCTTTATGTACAAATACCCTGGTTTCTAAATGCTACTTATTTTCTTCAGAAATAAAGTATGCTTTCAATTTAGTGAGTAA)$ MEFSGRKWRKLRLAGDQRNASYPHCLQFYLQPPSENISLIEFENLAIDRVKLLKSVENLGVSYVKGTEQYQSKLESELRKLKFSYRENLEDEYEPRRRDHISHFILRLAYCQSEELRRWFIQQEMDLLRFRFSILPKDKIQDFLKDSQLQFEA|estvlepgspdfadestlkcasfwkvnhvitmespsccpgwsamv* 11BR059 ENSG00000146143.19 ENSG00000236740.6 +/+ +/+ chr6:57326045 chr6:53994790 CDS/splice-site exon/splice-site duplication 0 1 1 39 23 high out-of-frame . . . . ENSG00000146143.19 ENSG00000236740.6 ENST00000672107.1 ENST00000431554.2 downstream upstream . ^(ATATGAACTCTCCCGCCACCCGGGAACAGTGGCTGCCACCGTTTGTGTTTTCCCGAGTTTGAATTCTTGCAG___GTGACCAAGATGGAGTTTTCTGGAAGAAAGTGGAGGAAGCTGAGGTTGGCAGGTGACCAGAGGAATGCTTCCTACCCTCATTGCCTTCAGTTTTACTTGCAGCCACCTTCTGAAAACATATCTTTAATAGAATTTGAAAACTTGGCTATTGATAGAGTTAAAT___TGTTAAAATCAGTTGAAAATCTTGGAGTGAGCTATGTGAAAGGAACTGAACAATACCAGAGTAAGTTGGAGAGTGAGCTTCGGAAGCTCAAGTTTTCCTACAGA___GAAAACTTAGAAGATGAATATGAACCACGAAGAAGAGATCATATTTCTCATTTTATTTTGCGG)CTTGCTTATTGCCAGTC___TGAAGAACTTAGACGCTGGTTCATTCAACAAGAAATGGATCTCCTTCGATTTAGATTTAGTATTTTACCCAAGGATAAAATTgAGGATTTCTTAAAGGATAGCCAATTGCAGTTTGAGGCT|ATGGAGTCTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAG(___TAGATACGGGGTTTCATCATGTTGGCCAGGCTGATTTCGAACTCCTGACCTCAAGAGAGCTGCCCGCCTCGACTTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCACACCCAGCCTCATATATTGTATTCTGTATATAATTAAGACCTTTCCTTTTCAAGGCAATATATATAACAATAAAAAGATGAATTAAGTAAGCCCTCTGAATTAATATATTAAGTGGTCCCTCAGAAGGGAGAAATTTTGAAATTAAATATTATCTAAAGATTTTGATATTCACTTAATGGGAGTATCTGAATTAAGTGTCACAACTAAAATAGTAGAGTGGTCACATTCCCTAGCACCAGTTCTCAAACTTTGTTAAAAATGCAGATTCCTGAGCTCTATCATTAAACATTTTTATTTAGAAGTGGGGAGTGTGGCCTTCGTATTTCAGCTGCTTAACTAGTAGCACAGCGAAGACGGTATAAGGGTCTTTGGATCACTTTTTGAAAAGCATGGTCTTAGAGAGAAGGAACAGCCCACACTCGTTCACAGTGTAGCAACACGCGGGAAAGAGAACAGTCAAATTGTTTTGATGATGACGAAAGGAAATGCAGGCTTTCTAGTATATACAAAACATATTCAAAAATCTAGAAGTTTATCACTAAGGTTTTTGGAAGTAAATCTACATTTAGCAACTCAATTTTTTAGATTTTATTCTCAATTATCTGGACATGAGATTTAGGTCTGTGATTCTCAGGTCTTCTTAGTTATACATATCACTCAAGGAGCTATGGACTCCAAATGACTTATGTTTGTGATAAAGCCTCATTTACCCCACAATAATAGGAAAGCTGCTCTGATTTTCTGAAGTTAGAAATGAAAGATTAAGTAAGTACATTTGTTATAGTTTAATATTACACATTGTATGATGAAAACATTGTCTCCTACACTGCCTCCTATTATCTGGAAAATTAGTAATACTAAAGTGTTCTTTCAAAACCAGAGACCTAAATGGCTGGAAGCAATAATTGCTAGAGCTCTCCACCAAGCTTTGACTATAAATATTTGGCCATATTGTGTGTTAGAAAATATAAGACACACTTGCTTTCATTTTCTGAGCCTGACTCACTGAATTTTCTTGTCCAGATTGGTTTTCATCTGTTTATTCCTTTAGAGCATAGATTAGAGTCCATTGTGGTTCTCATCTCTGTTATGCATGTTTTTTTATGAATAAAATGCCAGGCACACAGAGCATACATATGCACATTTTACTACGAGATAGTAAAAGCTCAATGTGCTGGGACTGCATTCCCAATGTGACCTTATTTTCCCACTCTTTGCAGTTTTAAAATGTTACGTTAATCTGGCGTTCTGGACGGGGATTTTCTCTTCTTTACAGTGAGTCCCAGCAGTATATAGCGGCCATAGAATAGCTAAACTTGAAGAGGCTTTTTGGCAAAGATTTGAATATATGTCCTTTGGCCTTTTCTGGTTCTTGTCTGTATTTCATAATACAAAACTAATGAGGATTTCACTTTGGTGAAATCTGCCTTACTAAATGATGCTTGCAAATAACACATTCATTTGTTAGCATTTGGGATTCTGATTAAATCATTTTGCTTTAGTAGCTGTTAAAGATTATAGTTTGAAAGAAAAAAGTGTTTTGGCATTGAGTACTTTGAGACCCCTGTACAGTGTACCAAAATCTATGCAAATTGTTACGAGGCCTTTTAATTACAGGTGAACCCCAGCACTTATTATCATCTGATGCACAGATTATGCACATGTCATATATTGGTAATAAAATATCAAAGTTAGACTGACACTCTTAAAGTGCTTAACACTGTTTTATTGGCTTACTAGCCCTAACTGGATTCATTGCATCCATTTTTTTCATTCTGCCACTTAAAACATTTGCCACGTTGTTTTATTCATGCTTTTATCACAGCTTTGTCTGTAACTACATTGACTTGATTACTCATATTCTATGGCAATTCCTGACATTTGGCTTATTTTTCCACTAGCCTCCTTACTTTTAAAAACCACTCCATCTCATTTTTCAACAACCTCTGATTATCTCAAAGTTACCTCGGATTATCCTGACACGTCCTTCGGCTTCTGAGGATATTGACTCAGTATTTCAAGACTGAGGTGACTCTGAGACAGAAGACGGAGCCAGTGGTGATGTGCTCCCTTATTCAGACTCTTTGAATAATGCTTTTTACTCAGCTATGGACTCTGCTAGAAAGACACTTTAATATTTTTGCCATTTATATTTTTCTGTTGTTGAAAAATAATAGAAACCAGTGCCTTAGTTGGTTTAACAATTCAACAAAGTTGTTTTCAAAAGAAGAAAGAAAATGTAACTCCATTTAGGTTGTCTTTCATTTGCAAACACTAACTGAAACTTGAGTTAGGGATTGTATAACTTGGAAACAGTATTAATAAAATGAAGTCATTGTCATATTAAAAATGTCCTAATGTTCACTTTAAGTGTATTTTTAAAAACCTCACAGGCAATGGTGTGAAAGAAACCAAGGAGATGTTTACATTCATTAGTTCCACTGGAAAAAACTGGTTAATGTAATTGTATAGATTTTTCCCTTCTTGTTTTGTGTGCTGTATAACCCAGTCTTTGCTTTATGTACAAATACCCTGGTTTCTAAATGCTACTTATTTTCTTCAGAAATAAAGTATGCTTTCAATTTAGTGAGTAA)$ MEFSGRKWRKLRLAGDQRNASYPHCLQFYLQPPSENISLIEFENLAIDRVKLLKSVENLGVSYVKGTEQYQSKLESELRKLKFSYRENLEDEYEPRRRDHISHFILRLAYCQSEELRRWFIQQEMDLLRFRFSILPKDKIeDFLKDSQLQFEA|mespsccpgwsamv* 11BR059 ENSG00000130699.18 ENSG00000130700.7 -/- -/- chr20:62064451 chr20:62466551 CDS/splice-site CDS/splice-site duplication 3 7 0 24 10 high out-of-frame . |GATA_zinc_finger(100%) . . ENSG00000130699.18 ENSG00000130700.7 ENST00000252996.8 ENST00000252997.3 upstream downstream duplicates(1) ^(ATGGCGGCGGGCTCGGATCTGCTGGACGAGGTCTTCTTCAACAGCGAGGTGGACGAGAAAGTGGTGAGCGACCTGGTGGGCTCGCTGGAGTCGCAGCTGGCGGCCAGCGCGGCCCACCACCACCACCTCGCGCCGCGCACGCCCGAGGTGCGGGCCGCGGCCGCCGGCGCGCTCGGGAACCATGTTGTGAGCGGCAGCCCGGCCGGAGCCGCGGGCGCAGGGCCGGCCGCCCCCGCCGAGGGCGCGCCCGGAGCGGCGCCGGAGCCGCCCCCCGCAGGTAGAGCGCGGCCGGGGGGCGGGGGGCCGCAGCGCCCGGGCCCCCCCTCACCGCGCCGCCCCCTTGTCCCCGCAGGGCCCGCGCCGCCCGCCGCGAAGCTGAGGCCGCCGCCCGAGGGCAGCGCGGGGTCCTGCGCCCCGGTGCCCGCCGCCGCCGCCGTCGCCGCGGGGCCCGAGCCCGCCCCCGCCGGCCCCGCCAAGCCCGCCGGCCCCGCCGCGCTGGCCGCCCGCGCCGGCCCCGGCCCCGGGCCCGGCCCCGGCCCCGGCCCCGGCCCTGGCCCTGGCAAGCCCGCCGGCCCCGGCGCCGCGCAAACTTTGAATGGGAGCGCCGCGCTGCTGAACTCGCACCACGCCGCCGCACCTGCTGTCAGCCTGGTCAACAACGGGCCCGCCGCGCTGCTGCCGCTGCCCAAGCCCGCCGCCCCCGGCACTGTCATCCAGACGCCCCCCTTCGTGGGCGCCGCCGCGCCCCCCGCGCCCGCCGCGCCCTCGCCCCCCGCCGCCCCCGCGCCCGCCGCCCCCGCCGCCGCCCCGCCCCCGCCACCCCCCGCGCCCGCCACTCTGGCCCGGCCGCCCGGCCACCCCGCCGGACCCCCGACCGCCGCGCCCGCCGTGCCGCCCCCCGCCGCCGCCCAGAACGGGGGCAGCGCCGGGGCAGCCCCCGCCCCCGCCCCGGCCGCCGGGGGCCCCGCGGGGGTCAGCGGCCAACCCGGGCCCGGCGCGGCGGCTGCGGCGCCGGCGCCGGGGGTCAAGGCCGAGTCGCCCAAGAGGGTGGTGCAGGCGGCGCCCCCGGCGGCGCAGACCCTGGCGGCCAGCGGCCCGGCCAGCACGGCGGCCAGCATGGTCATCGGGCCAACTATGCAAGGGGCGCTGCCCAGCCCGGCCGCCGTCCCGCCGCCCGCCCCCGGGACCCCCACCGGGCTGCCCAAAGGCGCGGCCGGCGCAGTGA)CCCAGAGCCTGTCCCGGACGCCCACGGCCACCACCAGCGGGATTCGGGCCACCCTGACGCCCACCGTGCTGGCCCCCCGCTTGCCGCAGCCGCCTCAGAACCCGACCAACATCCAGAACTTCCAGCTGCCCCCAG|TCCTCGTCCCGCCGCGCCGGCCTCTGCTGCACCAACTGCCACACGACCAACACCACGCTGTGGCGGCGGAACTCGGAGGGGGAGCCCGTGTGCAATGCCTGCGGCCTCTACATGAAGCTGCACGGG___GTGCCGCGGCCTCTGGCTATGAAGAAGGAAAGCATCCAGACACGGAAGCGGAAGCCAAAGACCATCGCCAAGGCCAGGGGCTCCTCAG___GATCCAC(AAGGAATGCCTCGGCCTCCCCATCTGCTGTCGCCAGCACTGACAGCTCAGCAGCCACTTCGAAAGCCAAGCCCAGCCTGGCGTCCCCAGTGTGCCCTGGGCCCAGCATGGCCCCCCAG___GCCTCTGGCCAGGAGGATGACTCTCTTGCCCCCGGCCACTTGGAGTTCAAGTTCGAGCCTGAGGACTTTGCCTTCCCCTCCACGGCCCCAAGCCCCCAGGCTGGCCTCAGGGGGGCTCTGCGCCAAGAGGCCTGGTGTGCGCTGGCCTTGGCCTAGGTCCCCAGGCCAGCCCATGTCAGGGGAACAGCCTGGAACAGACCACCCACTGAGTCACCTCCGTGCCTGCTTTGCTCCAGCACAGCAGAGACCAGCAGGCCCCCCAACCCAGAGACTGGGTCTGCTGGAGTCTCCACACAGTGGTGGGGAGGCCTTCTGGACAGACGGCAGTCGGGCCCCAGAGCAAGAAGGCTGGTGAGGGAAGGGCTCAGCTTCCCACCCCACGTACAGCAAGGGACTCCCCAGGTGCGGCCCAAGGCTCCGGACCACACTGGCCCCCTGCGGCGGAGGCCAACGCAGGGCACCACCACCACCAACTTGAATTCCGTCATCAATGCTCACCGTCAATATGTTTACAAGTTGTAGCAGTTGGGGGAAAACAGTCAACCTCCCAGTGTAAAACCAAGATTCCCAGTGAAGCACCTGAGGCCAAGCAGGGGAGAGGAATGAGGGGAGCAGCTGGACATGGGCCTCCTGAGGCCTCGGGGCTGTCCTTCATTGCCCACATGGATAGACGGAGCTGTGGTGCAGAGAACTTTTCCCGCAACAGGTGCAGGACTGCCAGGGATCGGAGTGCGGGCCGCGCACGGTGCCAGGATTCCGCCGAGGGGAAGCCGCTCACATTGCAGTCATCACAGACTTACGCACTTGTTTGGACAGTTTTTCCAGAGGGGATGGGAAAGGGCCTTGTTCTAGCTGAATCTGTGTATCATGACCATTTCTGACAGGCAGAATGAATTGTCTGGTAGCCCTGTCCTGACCCATCCAAGCGCTGTTGGGGCTGGTGGTGACGTGGTCACATGTCCTGGCATATCTGGGGCCACGCAGTTTAGTCTCTTGTCCCAGGAGAATTGTTAGTGACCCCTCTTTCTCTTGCAAGCCCCCTCCACACTGGGTTGGATGATACCTTAATGAGTGACGCTGGCGAGAGGCACCCTACCCGACGCAGCTGTGAATGGCCGGTGATGTATGTCAGGAGGCCACAGGGAGCAGAGGAGCGGGGCAGGCAGCCACAGGGCCCTGCGGGGAGCACATCCTCGCCTCCGTCCGGCTGCTGCCCTTCAACAACAAGCCCTGATTTTTCCAGCAATGCCAGAAACCTGGATTTTAAGTCTTCCAATTTGATTCAAAAATATTTTTAACATTGTGAGCCAGCTAGACCCCCAGTGCACCACCCCATATTGAAAAACAGTTGTCTGGCATCAGCTTCAGGAGCGGGTCCGGTCATTCTGAAACTGTCCCTCCAGAGGTTCTTCCAGCCCCACTTCTATGCGATGTCATCTTTTCTAAAAGAGACAAATGAAGCCACAGGGAAAGTGAAATAAAGCCTTGAACCTCA)$ MAAGSDLLDEVFFNSEVDEKVVSDLVGSLESQLAASAAHHHHLAPRTPEVRAAAAGALGNHVVSGSPAGAAGAGPAAPAEGAPGAAPEPPPAGRARPGGGGPQRPGPPSPRRPLVPAGPAPPAAKLRPPPEGSAGSCAPVPAAAAVAAGPEPAPAGPAKPAGPAALAARAGPGPGPGPGPGPGPGPGKPAGPGAAQTLNGSAALLNSHHAAAPAVSLVNNGPAALLPLPKPAAPGTVIQTPPFVGAAAPPAPAAPSPPAAPAPAAPAAAPPPPPPAPATLARPPGHPAGPPTAAPAVPPPAAAQNGGSAGAAPAPAPAAGGPAGVSGQPGPGAAAAAPAPGVKAESPKRVVQAAPPAAQTLAASGPASTAASMVIGPTMQGALPSPAAVPPPAPGTPTGLPKGAAGAVTQSLSRTPTATTSGIRATLTPTVLAPRLPQPPQNPTNIQNFQLPP|vlvpprrpllhqlphdqhhavaaelgggarvqclrplheaargaaasgyeegkhpdteaeakdhrqgqgllrihkeclglpiccrqh* 11BR059 ENSG00000136709.12 ENSG00000136715.18 -/- -/- chr2:127724887 chr2:127996491 CDS/splice-site CDS/splice-site duplication 4 6 0 57 63 high out-of-frame . WD_domain__G-beta_repeat(100%)| . . ENSG00000136709.12 ENSG00000136715.18 ENST00000322313.9 ENST00000643581.1 upstream downstream . ^(AGAGCGTGCGTTCGGTGGCCCATAGGGGAAGATGGCGGCTGCTCCTTTGGAGGAGCGGGATTGAGAGGATCGGGGTGGGGAGACCAAACAAGAGAGACATTTCTGGCTCTGAAGGCGAACGCTTCGCTGGCCATTTAGGAGCTCTGCTCAAAGCCAGACG___TATCCTAGAAGGAAAACATCACCATGGCTACAGAAATTGGTTCTCCTCCTCGTTTTTTCCATATGCCAAGGTTCCAGCACCAGGCACCTCGACAGCTGTTTTATAAGCGACCTGATTTTGCACAACAGCAAGCAATGCAACAGCTTACTTTTGATGGAAAACGAATGAGAAAAGCTGTGAACCGAAAAACCATAGACTACAATCCATCTGTAATTAAGTATTTGGAG___AACAGAATATGGCAAAGAGACCAGAGAGATATGCGGGCAATTCAGCCTGATGCAGGTTATTACAATGAT___CTGGTCCCACCTATAGGAATGTTGAATAATCCTATGAATGCAGTAACAACAAAATTTGTTCGGACATCAACAAATAAAGTAAAGTGTCCTGTATTTGTTGTTAGG___TGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAG___GCTCACGACAGCCCAGTGAGGGCCATGACGTGGTCACATAATGACATGTGGATGTTGACAGCAGACCACGGAGGATATGTGAAATATTGGCAGTCGAACATGAACAACGTCAAGATGTTCCAGGCACATAAGGAGGCGATTAGAGAGGCCAG___TTTCTCACCCACGGATAATAAATTTGCTACATGCTCTGATGACGGCACTGTTAGAATCTGGGACTTTCTTCGTTGCCATGAGGAAAGAATTCTCCGAG___GGCATGGTGCTGATGTGAAATGTGTAGACTGGCATCCAACCAAAGGGTTAGTTGTTTCAGGAAGTAAAGATAGTCAACAGCCAATCAAGTTCTGGGATCCCAAGACTGGGCAGAGTCTTGCAACACT___TCATGCCCATAAAAACACAGTAATGGAAGTGAAATTAAACCTCAATGGCAATTGGCTACTCACAGCATCACGTGATCATCTCTGTAAACTTTTTGATAT)CAGAAACCTAAAAGAAGAGCTTCAAGTCTTCCGAGGTCATAAGAAAGAAGCCACAG___CTGTGGCCTGGCATCCTGTTCATGAAGGACTTTTTGCCAGTGGAGGGTCTGATGGTTCTTTGTTATTCTGGCATGTTGG|CCAAGGTGGTGCCCCAGCAGATCACGCACACTTCTCCTCGGATCCAGCCAGACTACCCTGCCGAGAGGAGTAGCCTGATTCCCATCTCCGGACATCGGGCCTCTCCCAATCCTGTGGCCATGGAAACCCGAAGTGACAACAG___ACCGTCTGTTCCCGTTCAGTTCCAATATTTTTTGCCAACTTACCCCCCTTCTGCATACCCACTGGCGGCA(CATACCTACACCCCAATCACCAGTTCCGTGTCCACTATCCGACAGTATCCAG___TTTCAGCTCAGGCTCCAAACTCTGCCATCACAGCTCAGACTGGTGTTGGGGTAGCGTCTACCGTCCACCTAAACCCCATGCAGTTGATGACAGTGGATGCATCGCATGCTCGACATATTCAAGGGATCCAGCCAGCACCCATCAGTACCCAGGGTATCCAGCCGGCCCCCATTGGGACCCCAGGGATACAGCCTGCACCACTTGGCACACAGGGAATTCACTCAGCAACCCCAATCAACACACAAGGGCTTCAGCCTGCACCTATGGGTACTCAGCAGCCTCAGCCTGAAGGAAAGACTTCAG___CAGTGGTGTTGGCAGATGGAGCCACAATTGTGGCCAACCCTATTAGCAATCCATTCAGTGCTGCTCCAGCAGCAACAACCGTGGTGCAGACCCACAGCCAGAGTGCTAGCACCAACGCTCCCGCCCAGGGCTCATCGCCACGGCCAAGCATACTCCGGAAGAAACCTGCCACAGATGG___AATGGCAGTTCGGAAAACCCTCATTCCTCCTCAGCCTCCTGATGTTGCTAGTCCTCGAGTGGAAAGCTCTATGCGGAGTACGTCTGGGTCACCTAGGCCTGCAGG___TGCCAAACCCAAGTCTGAAATCCACGTGTCTATGGCCACTCCGGTCACTGTGTCCATGGAGACTGTATCCAATCAAAATAATGATCAGCCTACCATTGCCGTCCCTCCAACTGCCCAGCAGCCCCCACCGACCATTCCAACTATGATTGCAGCAGCCAGTCCCCCGTCACAACCAGCCGTTGCCCTTTCAACCATTCCTGGAGCGGTCCCCATCACTCCACCCATCACCACCATTGCAGCTGCACCACCTCCATCAGTCACTGTGGGTGGCAGTCTTTCCTCCGTCTTGGGCCCTCCCGTTCCTGAAATTAAAGTGAAAGAAGAAGTAGAACCAATGGATATCATGAGGCCAGTTTCTG___CAGTTCCTCCACTGGCTACCAACACTGTGTCTCCATCTCTTGCATTGCTGGCAAACAACTTGTCCATGCCTACAAGTGACCTACCACCTGGTGCCTCCCCAAGGAAAAAGCCTCGAAAGCAACAGCATGTGATCTCAACAGAAGAAGGTGACATGATGGAGACAAACAGCACTGATGATGAGAAGTCCACTGCCAAGAGTCTTCTGGTGAAGGCTGAGAAGCGCAAGTCTCCTCCCAAGGAGTATATTG___ATGAGGAAGGTGTGAGATATGTCCCAGTGCGTCCAAGACCCCCCATTACTTTGCTTCGTCACTATCGGAACCCCTGGAAAGCTGCTTACCACCACTTTCAGAGGTACAGTGACGTCCGGGTCAAAG___AGGAGAAGAAAGCTATGCTGCAGGAAATAGCTAATCAGAAAGGAGTATCCTGTCGTGCTCAAGGCTGGAAAGTCCACCTCTGTGCTGCCCAGTTACTACAGCTG___ACGAATCTAGAACATGATGTCTATGAAAGACTTACTAACCTGCAGGAAGGGATTATCCCAAAGAAAAAAGCAGCAACAGATGATGATCTCCACCGAATAAACGAACTGATACAG___GGAAATATGCAGAGGTGTAAACTTGTGATGGATCAAATCAGTGAAGCCAGAGACTCCATGCTTAAGGTTTTAGATCATAAAGACCGTGTCCTGAAGCTGCTTAACAAGAACGGGACTGTCAAAAAAGTGTCCAAATTGAAGCGAAAGGAAAAAGTCTAGACCCAGAACAATCAGGAGATTGGAAGCAAATTTATGAAGAATGATGGTGGGGGTGGGGGGAGGGTTTTGGTTTTTTCCAAAGTGGAACATTGAAATAAAGGAAGTGTTCCTTAGTTCCCGTGTGAAAGCAGAGGAACCCATGACATCCAAGGGCGTGAAAGGATCAGAGCTGACTGGACATAGTGAGCTGCCTTCTTGCGTTCGGGTGCACCCCTGTTAAACCTGATCTGTGTCATAAGTGACTCCGGATGCATCAGTGTCCACCAGTTGGAAGCAATGACAAGGATGGCTGGCTGGTGTTTTTCAGCCTTCCGGTTTATAGACTGTATTTATCTAGTGGATTCCTGCAGGCCCCATACTGAGCCTGGACTGAAAGTATCCACTCGGACCATCTGTTATCTCTCTACACTGAAAATAAAACCTCTTCCACCCACCCCATTCGGTTCTTCTGCCTGACCTTCAAATGCCCATGTTGGCCTTTTACAGCAGTGCCACGGCACCAAGCGAGCTGCCACATCTCACACTCTAAAGGGTTTGAACTATTAGTTCTTGTCATTTTTTAAAAAAAACCATTCCCAAGTGAAATTGTTATATCGTCTGTCTTGCGTGTGTCAGAACTGGGTTTTTGTGGAGGTTCAGAGCAGGCAACACCATAAGTTGCTCTCAGATCCTTGTTCTGAAGTACATTCTTGGTTATCTGTACTTCTGTAGCTGGTGTGATGCTGTTAATTGTATGTACCACACATCTCCAGACGTTAATAAAGGACTCAAAGAGGTTTTTG)$ MATEIGSPPRFFHMPRFQHQAPRQLFYKRPDFAQQQAMQQLTFDGKRMRKAVNRKTIDYNPSVIKYLENRIWQRDQRDMRAIQPDAGYYNDLVPPIGMLNNPMNAVTTKFVRTSTNKVKCPVFVVRWTPEGRRLVTGASSGEFTLWNGLTFNFETILQAHDSPVRAMTWSHNDMWMLTADHGGYVKYWQSNMNNVKMFQAHKEAIREASFSPTDNKFATCSDDGTVRIWDFLRCHEERILRGHGADVKCVDWHPTKGLVVSGSKDSQQPIKFWDPKTGQSLATLHAHKNTVMEVKLNLNGNWLLTASRDHLCKLFDIRNLKEELQVFRGHKKEATAVAWHPVHEGLFASGGSDGSLLFWHVg|qggapadhahfssdparlpcree* 11BR059 ENSG00000153721.19 ENSG00000153086.14 -/- +/+ chr6:154450095 chr2:134898341 CDS/splice-site CDS/splice-site translocation 4 4 1 48 85 high in-frame . SAM_domain_(Sterile_alpha_motif)(100%)| . . ENSG00000153721.19 ENSG00000153086.14 ENST00000607772.6 ENST00000356140.10 upstream upstream . ^(ATTCGGTTTGCAGCAACCGGAGCTGAAACTTTGCAACCCGAGCGCGCACGCTCTGCGCTCGGCCCTGCCAGGGCGGCACGGGAGGGCGGCGCAGGAGGTGGGACCTGCGCCGGGAAGGCTCCGGGACGCCAGCGCACGCGGAGCGGGGACCCCGGAGAGCCAGCAGGCGAGAAGACCGGCCGAGGGAGAGCCGATCGCGCCTCGAGAGATCCGAGGAAGTGGTCGCGGGCCGGGAGGCTCCCGTGCCGAGCCGAGGCCAGGGGTCTGGGGTCGCAGCCCGGCGTGCCTGCAGCTGCCGTCGCTCGGGAGCAGCAGCTGTGCCCGGGATCCCGGCGGCGGCGGGGGAAGGAGGAGCTGCAGCTGGACTGTGGCAGCTGGAGGGAGAGGGCCGGGCTCCCCTGGCGGAGCCGCGCTGGGACGACTGGCTGACCGCGGCCATGCAGTCTTGACGGAGTCGCTCGGGCGCAGGGGAGCAGCCGCGGGCGCGCCCTCCCGGGAAGGGGCACCGGAGCGCAGGCAGCAGCACTTTATCTGCGACTCTCCAGCCCAGCGAGAGGCGAAGCGGTTTACCATGGAACCCGTGACCAAGTGGAGCCC)CAAACAAGTGGTaGACTGGACTAGAG___GGTTGGATGACTGCCTGCAACAATATGTCCACAAGTTTGAACGAGAGAAGATCAACGGCGAGCAGCTGCTGCAGATTTCCCATCAGGACCTGGAGGAGCTGGGGGTCACACGGATcGGACACCAGGAGCTTGTGTTGGAGGCTGTGGACCTTCTCTGTGCACTG|GATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAG___AATAAACTCAAAGCCGGCAATGCCCTGGCATTTTTGGGTCTTGAGAGAAAACAATTTGAATGACTGAATTTACTACAAAG(GCAAACTTTCAAAAGGATATCTCATTTTTGTTTCTAAATATGTATCAACAGGTATCAACAAAATCCTATTTTGAACTATTTTACTCAGAAATGAATGTCCCAAATATCCTAAATTATTCATAATAAAAATGATTTGTAAGTGTTTTCATTCTGAAAA)$ MEPVTKWSPKQVVDWTRGLDDCLQQYVHKFEREKINGEQLLQISHQDLEELGVTRIGHQELVLEAVDLLCAL|DKVILGTDYPFPLGELEPGKLIESMEEFDEETKNKLKAGNALAFLGLERKQFE* 11BR059 ENSG00000288520.1 ENSG00000153086.14 -/- +/+ chr6:154450095 chr2:134898341 CDS/splice-site CDS/splice-site translocation 4 4 1 48 85 high in-frame . . . . ENSG00000288520.1 ENSG00000153086.14 ENST00000673182.1 ENST00000356140.10 upstream upstream . ^(ATGGAACCCGTGACCAAGTGGAGCCC)CAAACAAGTGGTaGACTGGACTAGAG___GGTTGGATGACTGCCTGCAACAATATGTCCACAAGTTTGAACGAGAGAAGATCAACGGCGAGCAGCTGCTGCAGATTTCCCATCAGGACCTGGAGGAGCTGGGGGTCACACGGATcGGACACCAGGAGCTTGTGTTGGAGGCTGTGGACCTTCTCTGTGCACTG|GATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAG___AATAAACTCAAAGCCGGCAATGCCCTGGCATTTTTGGGTCTTGAGAGAAAACAATTTGAATGACTGAATTTACTACAAAG(GCAAACTTTCAAAAGGATATCTCATTTTTGTTTCTAAATATGTATCAACAGGTATCAACAAAATCCTATTTTGAACTATTTTACTCAGAAATGAATGTCCCAAATATCCTAAATTATTCATAATAAAAATGATTTGTAAGTGTTTTCATTCTGAAAA)$ MEPVTKWSPKQVVDWTRGLDDCLQQYVHKFEREKINGEQLLQISHQDLEELGVTRIGHQELVLEAVDLLCAL|DKVILGTDYPFPLGELEPGKLIESMEEFDEETKNKLKAGNALAFLGLERKQFE* 11BR059 ENSG00000158092.7 ENSG00000154928.18 +/+ +/+ chr3:136928227 chr3:135106448 CDS/splice-site CDS/splice-site duplication 3 5 0 60 13 high in-frame . SH3_domain(100%)|Ephrin_type-A_receptor_2_transmembrane_domain(100%),Fibronectin_type_III_domain(100%),Protein_kinase_domain(100%),SAM_domain_(Sterile_alpha_motif)(100%) . . ENSG00000158092.7 ENSG00000154928.18 ENST00000481752.6 ENST00000398015.8 downstream upstream . ^(ACCGCGCGTGCCCCGCCTCTCTCCCAAGAGCTACGCGGCGGCGGCGGAGCGCAGGCCTCGTGCCGTTACGGCCATCACGGCGGCCGCAGTGGCGTCCTGGAGCCCTCCTCAGGTGAGCTGGAGCTGCCCGGCTCGGCAGCGGGAAG___TGCTGAAGCTGCTGAAAGATGGCAGAAGAAGTGGTGGTAGTAGCCAAATTTGATTATGTGGCCCAACAAGAACAAGAGTTGGACAT)CAAGAAGAATGAGAGATTATGGCTTCTGGATGATTCTAAGTCCTGGTGGCGAGTTCGAAATTCCATGAATAAAACAGGTTTTGTGCCTTCTAACTATGTGGAAAGGAAAAACAGTGCTCGGAAAGCATCTATTGTGAAAAACCTAAAGGATACCTTAG|CTTGCCCTGCAGGGACATTCAAGGCCAGCCAGGAAGCTGAAGGCTGCTCCCACTGCCCCTCCAACAGCCGCTCCCCTGCAGAGGCGTCTCCCATCTGCACCTGTCGGACCGGTTATTACCGAGCGGACTTTGACCCTCCAGAAGTGGCATGCACTA___GCGTCCCATCAGGTCCC(CGCAATGTTATCTCCATCGTCAATGAGACGTCCATCATTCTGGAGTGGCACCCTCCAAGGGAGACAGGTGGGCGGGATGATGTGACCTACAACATCATCTGCAAAAAGTGCCGGGCAGACCGCCGGAGCTGCTCCCGCTGTGACGACAATGTGGAGTTTGTGCCCAGGCAGCTGGGCCTGACGGAGTGCCGCGTCTCCATCAGCAGCCTGTGGGCCCACACCCCCTACACCTTTGACATCCAGGCCATCAATGGAGTCTCCAGCAAGAGTCCCTTCCCCCCACAGCACGTCTCTGTCAACATCACCACAAACCAAGCCG___CCCCCTCCACCGTTCCCATCATGCACCAAGTCAGTGCCACTATGAGGAGCATCACCTTGTCATGGCCACAGCCGGAGCAGCCCAATGGCATCATCCTGGACTATGAGATCCGGTACTATGAGAAG___GAACACAATGAGTTCAACTCCTCCATGGCCAGGAGTCAGACCAACACAGCAAGGATTGATGGGCTGCGGCCTGGCATGGTATATGTGGTACAGGTGCGTGCCCGCACTGTTGCTGGCTACGGCAAGTTCAGTGGCAAGATGTGCTTCCAGACTCTGACTGACG___ATGATTACAAGTCAGAGCTGAGGGAGCAGCTGCCCCTGATTGCTGGCTCGGCAGCGGCCGGGGTCGTGTTCGTTGTGTCCTTGGTGGCCATCTCTATCGTCTGTAGCAG___GAAACGGGCTTATAGCAAAGAGGCTGTGTACAGCGATAAGCTCCAGCATTACAGCACAGGCCGAG___GCTCCCCAGGGATGAAGATCTACATTGACCCCTTCACTTACGAGGATCCCAACGAAGCTGTCCGGGAGTTTGCCAAGGAGATTGATGTATCTTTTGTGAAAATTGAAGAGGTCATCGGAGCAG___GGGAGTTTGGAGAAGTGTACAAGGGGCGTTTGAAACTGCCAGGCAAGAGGGAAATCTACGTGGCCATCAAGACCCTGAAGGCAGGGTACTCGGAGAAGCAGCGTCGGGACTTTCTGAGTGAGGCGAGCATCATGGGCCAGTTCGACCATCCTAACATCATTCGCCTGGAGGGTGTGGTCACCAAGAGTCGGCCTGTCATGATCATCACAGAGTTCATGGAGAATGGTGCATTGGATTCTTTCCTCAGG___CAAAATGACGGGCAGTTCACCGTGATCCAGCTTGTGGGTATGCTCAGGGGCATCGCTGCTGGCATGAAGTACCTGGCTGAGATGAATTATGTGCATCGGGACCTGGCTGCTAGGAACATTCTGGTCAACAGTAACCTGGTGTGCAAGGTGTCCGACTTTGGCCTCTCCCGCTACCTCCAGGATGACACCTCAGATCCCACCTACACCAGCTCCTTG___GGAGGGAAGATCCCTGTGAGATGGACAGCTCCAGAGGCCATCGCCTACCGCAAGTTCACTTCAGCCAGCGACGTTTGGAGCTATGGGATCGTCATGTGGGAAGTCATGTCATTTGGAGAGAGACCCTATTGGGATATGTCCAACCAAGAT___GTCATCAATGCCATCGAGCAGGACTACCGGCTGCCCCCACCCATGGACTGTCCAGCTGCTCTACACCAGCTCATGCTGGACTGTTGGCAGAAGGACCGGAACAGCCGGCCCCGGTTTGCGGAGATTGTCAACACCCTAGATAAGATGATCCGGAACCCGGCAAGTCTCAAGACTGTGGCAACCATCACCGCCGT___GCCTTCCCAGCCCCTGCTCGACCGCTCCATCCCAGACTTCACGGCCTTTACCACCGTGGATGACTGGCTCAGCGCCATCAAAATGGTCCAGTACAGGGACAGCTTCCTCACTGCTGGCTTCACCTCCCTCCAGCTGGTCACCCAGATGACATCAGA___AGACCTCCTGAGAATAGGCATCACCTTGGCAGGCCATCAGAAGAAGATCCTGAACAGCATTCATTCTATGAGGGTCCAGATAAGTCAGTCACCAACGGCAATGGCATGAGAACTCTTGTTTCTTGGGGAAGGAGAGGAGGGAAAAGGACCAGGGTCAAGGGGGACCAGAGGTTGACCACTGTGGAATGTACTGGAGAGACTGGCTTCTCAGCTGAGGAATGCATTTCCATCAGTGAAGAATCAACCGGACCTGTTGCTAGCAGGCAATCTCCATTTCTCAGTGACAGAAGCATGTTTGAGATGCCGTGGGAAACCAAATATATAATAATAAAAATATAAAAAGGTGATGTTCAACAGAAGTGAAGACAAAACAATATGCATCAGGAGAACAAGAGTAAACCCAGCTCCCATTCTCAGTGGGCTGCAGTTGCCCAACCACAGGAAGAAAGGGAAGGAGGTAGAGGGAAGAAACAGAAGCAGTGTTCCATTTTCTTCCTCACCAATGACATTCTTTTCTTTTCTCCTTTCGTACTCCTCCCTGAGAGTCCCCTCCCTTCTCCCACACTCGTTTCCCTTTGCTCATGACTCCTGTAGGGAAGTTTCTTCAAACAAAACCCAGCTCCTGAGTCTCCAGATGTTGTTCTGTCAGTTGCCAAAGGACTTTGCTGACCACTGCATGGGGATCCAACCAATTCAATTAATGTCTTCATATTGAAGAAGAGATGTACCTTCAATTGAAAACCTCGTTTTTCTTTTGTTTGCATTTTCTGCAAAAAGGAAAAAGAAACCACAAATTGGGGAAAAAAAAAGAAGAAAAACCTGTTTCCGTGTGCAAAAGCACACATATGTATGTCTGTGTTATAAAATGACTGTGCTTGTTCGTAACAGATGCAAACAAGAAAGAAGAACTGGGAAGTCTTTGTCCCTAGGAAATCCAAAGGGGCTGGAATATGGTGTTGGTTTGGCTTTCTGGTTGGCCCAATCGGCCTATTGGCTCAATGGGAAGAGAGGAGAGGGAGAAAAATAAAATGAAAGGAAAAAAAAAAGTTTGCAAATTCAGACAGGAAACAGGTGAGTGGTTTGAATTGGATGCAGTGTGGGCCATCCTGGAATGATACTGACTGATTAATTATTCCTGATAACATCTCAAGAAAAGGAGAAGGAAAGTGTTTCTGGAGAATGTTCTTTCACATCACTGGAATCTGCAATTCAAGAAGTGACAAGGGAGAATTCTTGCTTTACCTATGGACTGGCTTAAGCCGTGTGGCATCCGAGGAATGTTTCAAATGTGTCTGTGTTTCTCTTTACATTCCTTGTTGTACCTCATTGTTCAATTCACTTTTGTAAATTCCACCTAACATTTAATTATTTTAAATTTCTCCTTTTACCTTAATCTCCTTGCTAATTTTATCTGTCTAATTAAAAAGAGCAGAAGCATGTCTGGGTTTACGTAAAA)$ MAEEVVVVAKFDYVAQQEQELDIKKNERLWLLDDSKSWWRVRNSMNKTGFVPSNYVERKNSARKASIVKNLKDTL|aCPAGTFKASQEAEGCSHCPSNSRSPAEASPICTCRTGYYRADFDPPEVACTSVPSGPRNVISIVNETSIILEWHPPRETGGRDDVTYNIICKKCRADRRSCSRCDDNVEFVPRQLGLTECRVSISSLWAHTPYTFDIQAINGVSSKSPFPPQHVSVNITTNQAAPSTVPIMHQVSATMRSITLSWPQPEQPNGIILDYEIRYYEKEHNEFNSSMARSQTNTARIDGLRPGMVYVVQVRARTVAGYGKFSGKMCFQTLTDDDYKSELREQLPLIAGSAAAGVVFVVSLVAISIVCSRKRAYSKEAVYSDKLQHYSTGRGSPGMKIYIDPFTYEDPNEAVREFAKEIDVSFVKIEEVIGAGEFGEVYKGRLKLPGKREIYVAIKTLKAGYSEKQRRDFLSEASIMGQFDHPNIIRLEGVVTKSRPVMIITEFMENGALDSFLRQNDGQFTVIQLVGMLRGIAAGMKYLAEMNYVHRDLAARNILVNSNLVCKVSDFGLSRYLQDDTSDPTYTSSLGGKIPVRWTAPEAIAYRKFTSASDVWSYGIVMWEVMSFGERPYWDMSNQDVINAIEQDYRLPPPMDCPAALHQLMLDCWQKDRNSRPRFAEIVNTLDKMIRNPASLKTVATITAVPSQPLLDRSIPDFTAFTTVDDWLSAIKMVQYRDSFLTAGFTSLQLVTQMTSEDLLRIGITLAGHQKKILNSIHSMRVQISQSPTAMA* 11BR059 ENSG00000197594.13 ENSG00000155906.19 +/+ -/- chr6:131868126 chr6:151436554 CDS/splice-site CDS/splice-site inversion 5 3 0 111 178 high out-of-frame . Somatomedin_B_domain(100%),Type_I_phosphodiesterase_/_nucleotide_pyrophosphatase(100%)| . . ENSG00000197594.13 ENSG00000155906.19 ENST00000647893.1 ENST00000444024.3 downstream downstream duplicates(2) ^(AGCGGCCGGGGCCACGATGGAGCGCGACGGCTGCGCGGGGGGCGGGAGCCGCGGCGGCGAGGGCGGGCGCGCTCCCCGGGAGGGCCCGGCGGGGAACGGCCGCGATCGGGGCCGCAGCCACGCTGCCGAGGCGCCCGGGGACCCGCAGGCGGCCGCGTCCTTGCTGGCCCCTATGGACGTGGGGGAGGAGCCGCTGGAGAAGGCGGCGCGCGCCCGCACTGCCAAGGACCCCAACACCTATAAAGTACTCTCGCTG___GTATTGTCAGTATGTGTGTTAACAACAATACTTGGTTGTATATTTGGGTTGAAACCAAGCTGTGCCAAAGAAG___TTAAAAGTTGCAAAGGTCGCTGTTTCGAGAGAACATTTGGGAACTGTCGCTGTGATGCTGCCTGTGTTGAGCTTGGAAACTGCTGTTTAGATTACCAGGAGACGTGCATAGAACCAG___AACATATATGGACTTGCAACAAATTCAGGTGTGGTGAGAAAAGGTTGACCAGAAGCCTCTGTGCCTGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCAACTACAGTTCTGTGTGTCAAG___GTGAGAAAAGTTGGGTAGAAGAACCATGTGAGAGCATTAATGAGCCACAGTGCCCAGCAGG___GTTTGAAACGCCTCCTACCCTCTTATTTTCTTTGGATGGATTCAGGGCAGAATATTTACACACTTGGGGTGGACTTCTTCCTGTTATTAGCAAACTAA___AAAAATGTGGAACATATACTAAAAACATGAGACCGGTATATCCAACAAAAACTTTCCCCAATCACTACAGCATTGTCACC___GGATTGTATCCAGAATCTCATGGCATAATCGACAATAAAATGTATGATCCCAAAATGAATGCTTCCTTTTCACTTAAAAGTAAAGAGAAATTTAATCCTGAGTGGTACAAAGGAGAACCA___ATTTGGGTCACAGCTAAGTATCAAGGCCTCAAGTCTGGCACATTTTTCTGGCCAGGATCAGATGTGGAAATTAACGGAATTTTCCCAGACATCTATAAAATGTATAATGG___TTCAGTACCATTTGAAGAAAGGATTTTAGCTGTTCTTCAGTGGCTACAGCTTCCTAAAGATGAAAG___ACCACA)CTTTTACACTCTGTATTTAGAAGAACCAGATTCTTCAGGTCATTCATATGGACCAGTCAGCAGTGAA___GTCATCAAAGCCTTGCAGAGGGTTGATGGTATGGTTGGTATGCTGATGGATGGTCTGAAAGAGCTGAACTTGCACAGATGCCTGAACCTCATCCTTATTTCAGATCATG|GACCTAATGCACTGCACAGCATTTGCAACGGCAGATGAGTATCATCTGGGAAATCTGTCTCAAGATCTGGCCTCCCACGGATATGTTGAAGTAACAAGCTTGCCTAGAG___ATGCAGCAAATATTTTGGTGATGGG(TGTGGAAAATTCTGCAAAAGAAGGTGATCCTGGAACAATATTCTTCTTCAG___GGAAGGAGCTGCTGTGTTTTGGAATGTGAAAGACAAAACT___ATGAAGCATGTGATGAAAGTTCTAGAAAAACATGAAATTCAGCCCTATGAAATCGCACTGGTACACTGGGAAAATGAAGAACTTAACTACATAAAAATAGA___GGGACAGTCAAAACTTCACAGGGGGGAAATCAAGTTAAATTCAGAGCTGGATTTAGATGATGCCATTCTAGAGAAGTTTGCTTTCTCCAATGCTCTATGCCTTTCTG___TAAAACTGGCAATTTGGGAAGCATCACTGGATAAATTTATTGAATCTATTCAGTCAATTCCTGAG___GCTTTAAAAGCTGGGAAGAAAGTGAAACTATCTCATGAAGAAGTTATGCAGAAAATCGGTGAACTCTTTGCTCTAAG___GCACCGTATAAACTTGAGTTCAGACTTCCTGATTACTCCTGATTTCTACTGGGACAGAGAAAACCTGGAAGGACTTTACGATAAAACGTGTCAATTCCTTAGCATTGGCCGAAGAGTTAAG___GTCATGAATGAAAAACTTCAGCACTGCATGGAACTAACAGATCTAATGCGGAATCACCTGAATGAGAAGAGGGCACTCCGCTTGGAGTGGATGATTGTCATCCTCATTACCATAGAG___GTAATGTTTGAGCTGGGACGAGTATTTTTCTGATCAAGTGATAACCAAAGTGTCACTGCAAGAGATATTCAAGTTCTACAATCAAAAATTAAATGTTCGGCCCGGCGCGGTGCCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCAAGAAGGGTGGCTTGAGATGAGATCAGGAGCTCAAGACAAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACCAAAATTAGCCAGGTGTGTTGGCACACGCCCGTCATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCTAAGATCACACCACTGCACTCCAGCCAGGGCAACAGTGAGACTCAGTCTCAAAAATAAACAATAAAATAAATAAATAAATGTTCACTACTGGGTGATCATTTAATAGGTGTTTTTTTAATCAAGAAATTATCTTTTTCAGCCCAGTATATCGTGTGAATAAAATTATGAAGAATCTA)$ MERDGCAGGGSRGGEGGRAPREGPAGNGRDRGRSHAAEAPGDPQAAASLLAPMDVGEEPLEKAARARTAKDPNTYKVLSLVLSVCVLTTILGCIFGLKPSCAKEVKSCKGRCFERTFGNCRCDAACVELGNCCLDYQETCIEPEHIWTCNKFRCGEKRLTRSLCACSDDCKDKGDCCINYSSVCQGEKSWVEEPCESINEPQCPAGFETPPTLLFSLDGFRAEYLHTWGGLLPVISKLKKCGTYTKNMRPVYPTKTFPNHYSIVTGLYPESHGIIDNKMYDPKMNASFSLKSKEKFNPEWYKGEPIWVTAKYQGLKSGTFFWPGSDVEINGIFPDIYKMYNGSVPFEERILAVLQWLQLPKDERPHFYTLYLEEPDSSGHSYGPVSSEVIKALQRVDGMVGMLMDGLKELNLHRCLNLILISDH|gpnalhsicngr* 11BR059 ENSG00000091831.23 ENSG00000203727.4(10207),ENSG00000227681.5(80475) +/+ ./- chr6:152011794 chr6:147580228 CDS/splice-site intergenic inversion 3 4 0 150 4 high out-of-frame . Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Oestrogen_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%)| . . ENSG00000091831.23 . ENST00000440973.5 . downstream downstream . ^(ATGGTCATAACAGCCTCCTGTCTACCGACTCAGAACGGATTTTACCAAAACTGAAAATGCAGGCTCCATGCTCAGAAGCTCTTTAACAGGCTCGAAAGGTCCATGCTCCTTTCTCCTGCCCATTCTATAGCATAAGAAGACAGTCTCTGAGTGATAATCTTCTCTTCAA___GAAGAAGAAAACTAGGAAGGAGTAAGCACAAAGATCTCTTCACATTCTCCGGGACTGCGGTACCAAATATCAGCACAGCACTTCTTGAAAAAGGATGTAGATTTTAATCTGAACTTTGAACCATCACTGAG___GTGGCCCGCCGGTTTCTGAGCCTTCTGCCCTGCGGGGACACGGTCTGCACCCTGCCCGCGGCCACGGACCATGACCATGACCCTCCACACCAAAGCATCTGGGATGGCCCTACTGCATCAGATCCAAGGGAACGAGCTGGAGCCCCTGAACCGTCCGCAGCTCAAGATCCCCCTGGAGCGGCCCCTGGGCGAGGTGTACCTGGACAGCAGCAAGCCCGCCGTGTACAACTACCCCGAGGGCGCCGCCTACGAGTTCAACGCCGCGGCCGCCGCCAACGCGCAGGTCTACGGTCAGACCGGCCTCCCCTACGGCCCCGGGTCTGAGGCTGCGGCGTTCGGCTCCAACGGCCTGGGGGGTTTCCCCCCACTCAACAGCGTGTCTCCGAGCCCGCTGATGCTACTGCACCCGCCGCCGCAGCTGTCGCCTTTCCTGCAGCCCCACGGCCAGCAGGTGCCCTACTACCTGGAGAACGAGCCCAGCGGCTACACGGTGCGCGAGGCCGGCCCGCCGGCATTCTACAG___GCCAAATTCAGATAATCGACGCCAGGGTGGCAGAGAAAGATTGGCCAGTACCAATGACAAGGGAAGTATGGCTATGGAATCTGCCAAGGAGACTCGCTACTGTGCAGTGTGCAATGACTATGCTTCAGGCTACCATTATGGAGTCTGGTCCTGTGAGGGCTGCAAGGCCTTCTTCAAGAGAAGTATTCAAG___GACATAACGACTATATGTGTCCAGCCACCAACCAGTGCACCATTGATAAAAACAGGAGGAAGAGCTGCCAGGCCTGCCGGCTCCGTAAATGCTACGAAGTGGGAATGATGAAAGGTG___GGATACGAAAAGACCGAAGAGGAGGGAGAATGTTGAAACACAAGCGCCAGAGAGATGATGGGGAGGGCAGGGGTGAAGTGGGGTCTGCTGGAGACATGAGAGCTGCCAACCTTTGGCCAAGCCCGCTCATGATCAAACGCTCTAAGAAGAACAGCCTGGCCTTGTCCCTGACGGCCGACCAGATGGTCAGTGCCTTGTTGGATGCTGAGCCCCCGATACTCTATTCCGAGTATGATCCTACCAGACCCTTCAGTGAAGCTTCGATGATGGGCTTACTGACCAAC)CTGGCAGACAGGGAGCTGGTTCACATGATCAACTGGGCGAAGAGGGTGCCAG___GCTTTGTGGATTTGACCCTCCATGATCAGGTCCACCTTCTAGAATGTGCCTGGCTAGAGATCCTGATGATTGGTCTCGTCTGGCGCTCCATGGAGCACCCAGGGAAGCTACTGTTTGCTCCTAACTTGCTCTTGGACAG|GTTACACTACTGCCCTCCTGGAAGACCTGAGCAGCAGTTGTCAGTGCTGGGGTCCAGACACTCAGAAGAGTTGGCCTTGATTTTGAGTGCACTAACAATCTGCTAACAACTGTATTTAAAGCAACATTTTGTGCATGG MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDr|lhycppgrpeqqlsvlgsrhseelalilsaltic* 11BR059 ENSG00000176771.17 ENSG00000120262.10 -/- +/+ chr2:133213716 chr6:151548304 CDS/splice-site CDS/splice-site translocation 3 3 0 34 31 high in-frame . . . . ENSG00000176771.17 ENSG00000120262.10 ENST00000409261.6 ENST00000239374.8 upstream upstream . ^(GAAGCAACTACGGAGCCGCAGCCCAGGGAGCAAGTCTCCGCAAACTTGCTCCGCATTCACGGCAGGACTTCCCAGCCGCTGTGGATGTTCAGGAAAACCGAGTCTGTTCTGTTAGCGTGGCCTTTGAATGCTTCAAAAATAAACAGAGGATAACCAACCGCGGGAGGAAATTTTTAGCTGGAGAGAGTTGTAGTTCCTGTGTCTGTCTCCAGGACTGTGATATGTGTTGACTGAAGAGCTAACTACAA___GTTCATCGTGAAGAATAAATGAGATAAGCTACCTCAAGTGCCTGTACCAAAATAGACTCACAATACAT___TGACCCTGGAAACAGACGGGGGATTCTTATAAGTCACAAAAGAAAATAAATAACTTCATCCATGGA)GGGAAAGAGACAGCTTGAGAAAAGGGACTTTGGAAAAAGGCTGTCTCTAGACAGCAGTCTTGTG___GAATACATGGACTCCAATAAATACATTGAGCATCTGCTGACTCAGCTTGAGGAGCAACACAGGAGTCTCTGGAG___GGAGAAGTTGGCAGTGGCCCGACTACAGCGAGAAGTTGCCCAAAGAACAAGTGAGGGGGCCATG|CTTAGAGACCTGCGCAAAGAAAATGAATTCGTGAAAGGACAAATTGTTATTCTTGAAGAGACTATAAATGTCCATGAGATGGAAGCAAAAGCTAGCAGAGAAACGAT(CATGAGGCTGGCTTCAGAAGTCAACAGAGAGCAGAAAAAAGCTGCCTCCTGTACTGAAGAGAAAGAGAAGCTGAACCAG___GACCTGCTCAGTGCTGTAGAAGCAAAAGAAGCTCTTGAAAGGGAAGTTAAGATCTTCCAAGAAAGGCTGCTTGCTGGCCAGCAGGTCTGGGATGCCTCAAAGCAGGAAGTGAGCCTCCTGAAGAAAAGCTCTTCTGAGTTGGAGAAGAGTTTGAAGGCCAGTCAGGATGCAGTCACAACCTCACAAAGCCAGTACTTCTCATTTAGGGAGAAAATCGCAGCCCTCCTTAGGGGCAGATTGAGCATGACTGGGTCCACTGAGGACACCATTTTGGAGAAGATTCGAGAAATGGACAGCCGGGAAGAAAGCAGGGACCGG___ATGGTCTCCCAGCTTGAAGCCCAAATATCTGAGCTTGTTGAACAGTTGGGAAAGGAGTCTGGGTTTCACCAGAAAGCTCTCCAGAGGGCCCAGAAAGCAGAGAATATGTTGGAGACTCTTCAGGGTCAGCTGACACACCTGGAGGCAGAGCTGGTTTCTGGAGGTGTTTTGCGAGACAACTTGAATTTTGAGAAACAAAAA___TATCTTAAATTTCTGGATCAGCTTTCTCAGAAAATGAAGTTGGACCAGATGGCTGCCGAACTTGGCTTTGACATGCGGCTGGACGTGGTTTTAGCTCGAACAGAGCAGCTGGTTCGTCTTGAGAGCAATGCAGTCATTGAGAACAAGACCATTGCCCACAATTTGCAGAGAAAG___CTAAAGACACAGAAAGAGAGACTGGAGAGCAAAGAATTACACATGAGCCTCCTCCGGCAGAAAATAGCCCAGCTGGAGGAGGAGAAGCAGGCACGCACGGCCTTGGTGGTTGAGAGGGACAACGCGCATCTTACCATCAGGAACTTGCAGAAGAAGGTGGAGAGGCTGCAGAAAGAGCTGAACACGTGTCGAGACTTGCACACCGAGCTCAAAGCCAAACTGGCCGACACCAATGAACTGAAG___ATTAAAACTTTGGAACAGACTAAAGCCATTGAAGATCTAAACAAATCCAGAGACCAACTGGAGAAGATGAAGGAGAAAGCTGAGAAAAAGCTCATGTCTGTCAAGTCAGAACTGGATACCACAGAACATGAGGCTAAGGAGAATAAAGAAAGGGCCAGAAACATGATAGAAGTGGTAACCAGTGAAATGAAGACACTAAAAAAATCTCTGGAAGAAGCAGAAAAGAGAGAAAAGCAG___CTGGCAGACTTCAGGGAGGTGGTGTCGCAGATGCTAGGCTTGAACGTGACCAGCCTTGCTCTTCCTGATTATGAAATCATCAAGTGTCTTGAAAGATTGGTCCATTCACATCAGCATCACTTTGTTACCTGTGCCTGCCTCAAAGATGTGACTACTGGGCAAGAGAGGCACCCACAAGGCCATTTACAGCTTCTTCATTGAACACTGTATCTCTTGAGAGAGGTGGCCATAAGACATGGCACACAATTCCCAATTTCACAAATTCCTCATGTCTTTGAGATTTGATCAGTTTGTGAATATTTTATGCTTTGATGATATAGTGAGAATGCATCACTTGCAAAAACGATCTCAAAAGTGTCAGCCTTAGATAAACGTTCAGCATTAAAAACGCCTATTATTTCATTTACTAGCATTTTAGGATCCAGAAGAATTCCACCAGATTGCATGAGTTAGATTGGGAAATGGGAGTGGGAGATAATATTGGGAGGTATCTATTTTAAGTCAGGGGCTTTACTAGCCGATTTAGTTCTCACAATAACCATGTGGAGAAGCTGTGACATTTTTAATTTACAACCTTTCTGGGGCTCAGACATAAAGTTACCTATCCAAGGTTGCAGTTGGGTAGTGGTGGGACCAGGATGGACAACTCATTGGCCCTGCCTCAAAAGCCATACCTCTTCTCCTGCTATGCAGAATCTGTTTCTCCTGAATCTCTGTGATGCTGGTGGGAATTGTTTGCATAGAGGAAGGACAATAACCCTGCCATCGTGAGTTAATGTCCGGGCTGGTCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGTCCAAGGCAGGCATATCATTTGAGGTCAGGAGTTTAAGACCAGCCTGGCTAACATAGTGAGACCCTGTTTCTACTAAAAATACAAAAATAAGCCAGGTGTGGTGGTGCATGACTGTAATCCCAACTACTCAGCAGGAGAAGCACTTGAACCCAGGAGACGGAGGCGGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTACATCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAATGTCCAAAAATGACAGATTTACAAGTGTAAGCTATATGATTTCTTCAAAAAGCAAAAGCAATATACCTAATTCATTTGGATCAAACTTACATAGGTCTCAGGTCCTGTAAGAAACTTGCCTGTTCTAACTGTTGCTACCAGATTATATCTGGTGGTAATTGTTAATGTTTCAGCAGGGCTGGTCTCAGTCCTTTAAAATGGAAAGCTTTATTTGGAGCCCAACCCTATAAGATGAAGAAATCCTATATAGTCTTATTCACCAATATATCCAATACACCCACAGCAATGGTACCTTTTTAAGATCAGGATTTTATTATGAATTCCTGTCACTTTCTGTTTTCCATTTAAATTTCTATTTTACAAATTTTTCAGGGAATCATATTCTTAACTTCACTGAGAAAAATGTGTTACTCTTTTGGACAATTTATCTTATTTCTATCATATAAGATGTATTTTTTTATTGTCCTTAAAAGAAGCTCTAGCATGAAATTAAAGGAAAGGGAAAGAAATAGATCTGGTGCACCCGAACATTAGGAGAAAATGAAAAATATACAACCAACCGTTCGTGAGTCATCAAAAAGTCAAAGTCAGCCTGGCCAACATGGCAAAACTCCGTCTCTGCAAAAAATACAAAAATGAGCCCGGTATGTTGGCATATGCCTGTAATCCCAGCTACTCGAGAGGCTGAGACACGAAAATTGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCTACTGCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCAAAAAACAACAACAACAAAAAGTCAAAGTCATAATAAGCAAATTATTGGCTTCTTTCTTCTAGACTAAAAGAAATTAAAGAGATGAAACAATCAATTGCAAGGGTCAAAACTAGATTGGATCTTGGTTTGAATGAAAAAAAGCATAAAATATTCTTGCAATAATTGTAAAAATTTGAATGTGGACTAAGTCCTAGATTATATTAAAATATTTTTAATTTTTTAAGCTTGACAAATGCACTGATTGTTATACTTTAAATAACTAAAAATCTGAGAATCCACAGTGCTACAGACAATAAGTGATAAAATGGGAAAAAATAGTGAAGATCTTCTTTTAGGAAAACTACCAATAAATGTAGAATGGATGATTCCAAAAAAAAAAAAAAAAAGAAGAAAGAGAGAAAGAAAGAAACAGAAAAACCTAAAAGAAAGCGAATGAATTTGACACCTGTTGGTTGGATGACAGACCACACAGAGGGAGAGTGACCAGGCTTTGCTTGTGGAGCGGGCATCCCTGCCTAGCTATCTCCTTCATGTGCAAGGACAGTATAAGTAGTATTTTGCATGTGAGTAAACACACCTGCGCAGCCCTGGCTGAGGTCACTAGGCTGGCCAGAGGCAGGACAGGCAGTCTTGAATTTCCTCTAGGGGAGGCCTGCAGTTTTCCCCACCAACCCCTTTTCACATGCTCCAAAGATGTAGTAGTGTCTGCTGTTTTGGATCGAAAATCACCTTGAGTGGAGGAAGTGACTTCACTGGGTCTCTGGAGGCTCTCGGAGCTTGAGTGGCTCTGCCCCACCCTGAATCATGCACCCATAAATGCAGTTATGGGTGGATGTGGGTGTATGAGAGTGGAGATTGTTTTTGTACATTCTCTTTGTTTTCATTTTCCAAATATAATCTTTAATAAACTTGATTTAGTTTCTTGGGAAATTTATTTTCTACGCTATTCAAAGATATTTTAAATAATATTTTAAAAACATGAAATTTTTTTTTCATTTTTGATTTGATATCATTAATTTTATATCAGGATTCATGTAAGAGACTAAAAATGATCCATAGTGGTTAGTACTGTAATTTCTGTTTATTACATGAAATTACATTCCATTTATCCAAATATATGTTTATATAATATTTCCACTGTGTGACTCTAGTGATCTTTAACATACACAGAATGATCTACAGTGATCTTTAACATACTCAGAAATATGAAAAATGTTTGAATATGATCTTTAGGGACTTCTAATGAAAAGGGTATATGAAATGGGAACAATAAATTCTGTACATGTATACAGTCCATATACACATTAAGTGTTTGTCATTTGGACAAATTGAAAACTTTTAATAAAGCCATTTTCTTCTTTGTTAAAATGCCA)$ MEGKRQLEKRDFGKRLSLDSSLVEYMDSNKYIEHLLTQLEEQHRSLWREKLAVARLQREVAQRTSEGAM|LRDLRKENEFVKGQIVILEETINVHEMEAKASRETIMRLASEVNREQKKAASCTEEKEKLNQDLLSAVEAKEALEREVKIFQERLLAGQQVWDASKQEVSLLKKSSSELEKSLKASQDAVTTSQSQYFSFREKIAALLRGRLSMTGSTEDTILEKIREMDSREESRDRMVSQLEAQISELVEQLGKESGFHQKALQRAQKAENMLETLQGQLTHLEAELVSGGVLRDNLNFEKQKYLKFLDQLSQKMKLDQMAAELGFDMRLDVVLARTEQLVRLESNAVIENKTIAHNLQRKLKTQKERLESKELHMSLLRQKIAQLEEEKQARTALVVERDNAHLTIRNLQKKVERLQKELNTCRDLHTELKAKLADTNELKIKTLEQTKAIEDLNKSRDQLEKMKEKAEKKLMSVKSELDTTEHEAKENKERARNMIEVVTSEMKTLKKSLEEAEKREKQLADFREVVSQMLGLNVTSLALPDYEIIKCLERLVHSHQHHFVTCACLKDVTTGQERHPQGHLQLLH* 11BR059 ENSG00000198087.7 ENSG00000146072.6 +/+ -/+ chr6:47554766 chr6:47241873 CDS/splice-site intron duplication/5'-5' 2 3 0 78 13 high out-of-frame . Variant_SH3_domain(100%)| . . ENSG00000198087.7 ENSG00000146072.6 ENST00000359314.5 . downstream upstream duplicates(1) ^(CTCTGTCTGGGTCCCCACCTTAGTCTACGGTGTCGCCTTTTCTAACTGCGAGTGCTAAGGAAGAGGCGAGGGGCGGGCTCCGAGGCTAGGCGGGCGCTCGGGGTTGGAGCCGAGGGTCTGGGCAAACCGGTGGGTCCCTCCCCACTGCGGGAGCGGCCAGGGTGGGAAAACCGCGGTCGGGCGGGCGGGGTAGGGCCCTCCCGCCGCCGTGGCTCCTGGGGAGGCCAGGGGTGAGGAGCTGTCGCCGCCTTTGCCTCTGCCTCGAGGGCCGCGCTGAAGAGACTGGTAGGAGAGCGCCGCGGGCGGATGGAGGCGACTCTTCGCCCCGCCTGAGCTCAGGAGGGGCTAGCGCGGAGCGCGGGTCCCGCCTCCAGCCGCGGGAGCGGCCGCGCGAGCCACCACTGGAGGAGGAGGAGGAGGAGCGGACGTCGGCTTCTCCCCGCGGGAGCCCCCAGCATGG___TTGACTATATTGTGGAGTATGACTATGATGCTGTACATGATGATGAATTAACTATTCGAGTTGGAGAAATCATCAGGAATGTGAAAAAGCTACAGGAGGAAGGGTGGCTGGAAGGAGAACTAAATGGGAGAAGAGGAATGTTCCCTGACAATTTCGTTAAG___GAAATTAAAAGAGAGACGGAATTCAAGGATGACAGTTTGCCCATCAAACGGGAAAGGCATGGGAATGTAGCAAGTCTTGTACAACGAATAAGCACCTATGGACTTCCAGCTGGAGGAATTCAGCCACATCCACAAACCAAAAACATTAAGAAGA___AGACCAAGAAGCGTCAGTGTAAAGTTCTTTTTGAGTACATTCCACAAAATGAGGATGAACTGGAGCTGAAAGT)GGGAGATATTATTGATATTAATGAAGAG___GTAGAAGAAGGCTGGTGGAGTGGAACCCTGAATAACAAGTTGGGACTGTTTCCCTCAAATTTTGTGAAAGAATTAGAGGTAACAGATGATGGTGAAACTCATGAAGCCCAGGACGATTCAG|CCCAGACTTTAGTACATGAAGCAAGGAGGTGCTTCCATTGCATAAGTAGGGAACAGCACCAACACTTAAATCTAAATTGTCAATTGCCAAGTGGACAGCGAGGGCCATCTGCTGTCTAGAGCTCCCTGGGATCACTGGATGgCATGGGATGGAAGAAAGAACAGGAG MVDYIVEYDYDAVHDDELTIRVGEIIRNVKKLQEEGWLEGELNGRRGMFPDNFVKEIKRETEFKDDSLPIKRERHGNVASLVQRISTYGLPAGGIQPHPQTKNIKKKTKKRQCKVLFEYIPQNEDELELKVGDIIDINEEVEEGWWSGTLNNKLGLFPSNFVKELEVTDDGETHEAQDDS|aqtlvhearrcfhcisreqhqhlnlncqlpsgqrgpsav* 11BR059 ENSG00000150961.15 ENSG00000164056.11 -/- +/- chr4:118833579 chr4:123400443 CDS/splice-site intron duplication/5'-5' 3 2 0 135 15 high out-of-frame . . . . ENSG00000150961.15 ENSG00000164056.11 ENST00000280551.11 . upstream downstream duplicates(1) ^(GTTTGACGTGGCAGTTCCCAGCCCAGCTGCAACTCCGAGCGTGAGTCCAGGCTAAGGGGACGCCGGCCGGGGAAGAGGCGCGGCGGGAGAAGCGACCGCAGCGGGAGCCCGGCCACCGAGGGCTGCCGGCACTAGGCGCAGAGCCGCCAGCGCTCGGAAGCCCGCGGGGTGCGGGAGCGGGAACAG___ACTT)CTTTTGTAGAATTATCCTATcGAATGATATTTTCATAATGAGTCAACAAGGTTACGTGGCTACACCTCCGTATTCTCAGCCTCAGCCTGGAATAGGCCTTTCTCCACCTCATTATGGGCACTATGGGGATCCGTCGCACACAGCATCTCCAACAG|TCTACAGAGTCGACCCAATTCAAGAATGAAAAGAAAAAGAAATGTCCATTCTCCACTACCAACCTGAGG MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPT|vyrvdpiqe* 11BR059 ENSG00000091831.23 ENSG00000203727.4 +/+ +/- chr6:152011794 chr6:147557593 CDS/splice-site intron inversion/3'-3' 3 1 0 150 12 high out-of-frame . Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Oestrogen_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%)| . . ENSG00000091831.23 ENSG00000203727.4 ENST00000440973.5 . downstream downstream duplicates(2) ^(ATGGTCATAACAGCCTCCTGTCTACCGACTCAGAACGGATTTTACCAAAACTGAAAATGCAGGCTCCATGCTCAGAAGCTCTTTAACAGGCTCGAAAGGTCCATGCTCCTTTCTCCTGCCCATTCTATAGCATAAGAAGACAGTCTCTGAGTGATAATCTTCTCTTCAA___GAAGAAGAAAACTAGGAAGGAGTAAGCACAAAGATCTCTTCACATTCTCCGGGACTGCGGTACCAAATATCAGCACAGCACTTCTTGAAAAAGGATGTAGATTTTAATCTGAACTTTGAACCATCACTGAG___GTGGCCCGCCGGTTTCTGAGCCTTCTGCCCTGCGGGGACACGGTCTGCACCCTGCCCGCGGCCACGGACCATGACCATGACCCTCCACACCAAAGCATCTGGGATGGCCCTACTGCATCAGATCCAAGGGAACGAGCTGGAGCCCCTGAACCGTCCGCAGCTCAAGATCCCCCTGGAGCGGCCCCTGGGCGAGGTGTACCTGGACAGCAGCAAGCCCGCCGTGTACAACTACCCCGAGGGCGCCGCCTACGAGTTCAACGCCGCGGCCGCCGCCAACGCGCAGGTCTACGGTCAGACCGGCCTCCCCTACGGCCCCGGGTCTGAGGCTGCGGCGTTCGGCTCCAACGGCCTGGGGGGTTTCCCCCCACTCAACAGCGTGTCTCCGAGCCCGCTGATGCTACTGCACCCGCCGCCGCAGCTGTCGCCTTTCCTGCAGCCCCACGGCCAGCAGGTGCCCTACTACCTGGAGAACGAGCCCAGCGGCTACACGGTGCGCGAGGCCGGCCCGCCGGCATTCTACAG___GCCAAATTCAGATAATCGACGCCAGGGTGGCAGAGAAAGATTGGCCAGTACCAATGACAAGGGAAGTATGGCTATGGAATCTGCCAAGGAGACTCGCTACTGTGCAGTGTGCAATGACTATGCTTCAGGCTACCATTATGGAGTCTGGTCCTGTGAGGGCTGCAAGGCCTTCTTCAAGAGAAGTATTCAAG___GACATAACGACTATATGTGTCCAGCCACCAACCAGTGCACCATTGATAAAAACAGGAGGAAGAGCTGCCAGGCCTGCCGGCTCCGTAAATGCTACGAAGTGGGAATGATGAAAGGTG___GGATACGAAAAGACCGAAGAGGAGGGAGAATGTTGAAACACAAGCGCCAGAGAGATGATGGGGAGGGCAGGGGTGAAGTGGGGTCTGCTGGAGACATGAGAGCTGCCAACCTTTGGCCAAGCCCGCTCATGATCAAACGCTCTAAGAAGAACAGCCTGGCCTTGTCCCTGACGGCCGACCAGATGGTCAGTGCCTTGTTGGATGCTGAGCCCCCGATACTCTATTCCGAGTATGATCCTACCAGACCCTTCAGTGAAGCTTCGATGATGGGCTTACTGACCAACCTGGCAGACAGGGAGCTGGTTCACATGATCAACTGGGCGAAGAGGGTGCCAG___GCTTTGTGGATTTGACCCTCCATGATCA)GGTCCACCTTCTAGAATGTGCCTGGCTAGAGATCCTGATGATTGGTCTCGTCTGGCGCTCCATGGAGCACCCAGGGAAGCTACTGTTTGCTCCTAACTTGCTCTTGGACAG|GAAAGGAGAGGAGAGGACACAGGGACATACCAACAAGAGGCCAGGTGAAAGTGGAAGCAGAGAGTGGAGTGGTGCAGCCACAAGCCAAGGAATGCCAGAAGCCACTGGAAGCTGGAAAAGACAAG MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDr|kgeertqghtnkrpgesgsrewsgaatsqgmpeatgswkrq 11BR059 ENSG00000213047.13 ENSG00000203721.7 -/- -/- chr1:197652235 chr1:200343410 CDS/splice-site exon/splice-site duplication 2 1 0 37 3 high out-of-frame . DENN_(AEX-3)_domain(100%),uDENN_domain(100%)| . . ENSG00000213047.13 ENSG00000203721.7 ENST00000620048.6 ENST00000367355.6 upstream downstream mismappers(1) ^(GCAAGAAGGTGCAGGAGCCGCAGCGGGCGGCCCCGGTCGCAGGAACTGAGAGGCCTCAGCTTTGGTGGCGGCTACCGGCGGAGACGGGGGCGGCGGCCACGCCACCGCTGCTGTCACAGAAAGGCTCTGGTGGGTGGGGTGGGAGGCGGGGAAGTGCCGGGGGCGCAGCCGACATGGGCCCGCCGCCACGGCTGCTGTGAGCAGCCTCTTTCCCTGTGTGGCCGCCGGCGTGGGCGGGGACGGCGCGACCCTCGCGCGGCCGGGCTGCGGGCTTCCAGGCCAGCGCGCGGGGGCCGGACGGACAGCCCCACACCGACATGTAACCATGGACTGCAGGACCAA___GGCAAATCCAGACAGAACCTTTGACTTGGTGTTGAAAGTGAAATGTCATGCCTCTGAAAATGAAG___ATCCTGTGGTATTGTGGAAATTCCCAGAGGACTTTGGAGACCAG___GAAATACTACAGAGTGTGCCAAAGTTCTGTTTTCCCTTTGACGTTGAAAG___GGTGTCTCAGAATCAAGTTGGACAGCACTTTACCTTTGTACTGACAGACATTGAAAGTAAACAGAGATTTGGATTCTGCAGACTGACGTCAGGAGGCACAATTTGTTTATGCATCCTTAG___)TTACCTTCCCTGGTTTGAAGTGTATTACAAGCTTCTAAATACTCTTGCAGATTACTTGGCTAAGGAACTG___GAAAATGATTTGAATGAAACTCTCAGATCACTGTATAACCACCCAGTACCAAAGGCAAATACTCCTGTAAATTTGAGTGTG|GATCCAGTTGAAAATCAGGCATTGCATCCAGTTATCATGGCTTTAATCTTAATGCCTTCCCTGCACTGTTTTGGGAATATCTTAATACTGCTATTTTTGAAGAGTCCAGCTCAGTTATTCTGCAGAATGTCTGTTGATTTGGCTTTGCTGTTTCCTCATAAGTAGATCCAGATTATACGTTTTTGTTGATGTTGGGTTCTTCTCAGTGAATCACATCCGATGATGTCAGCACGAG(GCCTGATCATTTGGTTTAGGTAGCTTTCACTAGACTTTTTCATTGTAAAGGTACCTATCCCTTTTCTAATTAATAAGTAATATGTTGGGTGATAGTTTGTGTGTGAATATCCTTTTCTCCAGTGACCTTTCATCCAATGGTTTCAGCATTTTAAATGATCCTGGGCTGAGTCAGTTTTCAGTGGTGGCTGCAGACTTGTGGTTTTCCAATTCTTTCATCACTTTTACATTTATTAATTGGCAGTCTATGACTTCTTATAGCCACATAAAGATAATTCAGGAATTATCTGAACCTATGAATGTTACCTTATTTGGAAAAAGAGTCTTTGCAGATACAATTCAATTAAGAATCTTGAGATGAGGAGATTATCCTGGATTATCCAATGGGCCCTAAATCCAATGACAAATGTCCTTGGCAGAGGGAGATTTGAGACAGGAGAAGAGAAGACACGAAGGAGGGAAGGAAGTGATGTGACCACAGAGGCAGCGATTGGAGTGATGTAGTCACAAGCCAAGGAGCACCAACAGCCACCAGGAGCTGGAAGAGCCCAAGAGTATATACTAATACCTGGATTTGGGACTTGGGACTTCTGGTCTCTAGAAGTAGGAAAGAATAAACATCTGTTTTTTGTTTGT)$ MDCRTKANPDRTFDLVLKVKCHASENEDPVVLWKFPEDFGDQEILQSVPKFCFPFDVERVSQNQVGQHFTFVLTDIESKQRFGFCRLTSGGTICLCILSYLPWFEVYYKLLNTLADYLAKELENDLNETLRSLYNHPVPKANTPVNLSV|dpvenqalhpvimalilmpslhcfgnilillflkspaqlfcrmsvdlallfphk* 11BR059 ENSG00000213047.13 ENSG00000203721.7 -/- -/- chr1:197652235 chr1:200342757 CDS/splice-site exon/splice-site duplication 3 0 0 37 26 medium out-of-frame . DENN_(AEX-3)_domain(100%),uDENN_domain(100%)| . . ENSG00000213047.13 ENSG00000203721.7 ENST00000620048.6 ENST00000367356.1 upstream downstream . ^(GCAAGAAGGTGCAGGAGCCGCAGCGGGCGGCCCCGGTCGCAGGAACTGAGAGGCCTCAGCTTTGGTGGCGGCTACCGGCGGAGACGGGGGCGGCGGCCACGCCACCGCTGCTGTCACAGAAAGGCTCTGGTGGGTGGGGTGGGAGGCGGGGAAGTGCCGGGGGCGCAGCCGACATGGGCCCGCCGCCACGGCTGCTGTGAGCAGCCTCTTTCCCTGTGTGGCCGCCGGCGTGGGCGGGGACGGCGCGACCCTCGCGCGGCCGGGCTGCGGGCTTCCAGGCCAGCGCGCGGGGGCCGGACGGACAGCCCCACACCGACATGTAACCATGGACTGCAGGACCAA___GGCAAATCCAGACAGAACCTTTGACTTGGTGTTGAAAGTGAAATGTCATGCCTCTGAAAATGAAG___ATCCTGTGGTATTGTGGAAATTCCCAGAGGACTTTGGAGACCAG___GAAATACTACAGAGTGTGCCAAAGTTCTGTTTTCCCTTTGACGTTGAAAG___GGTGTCTCAGAATCAAGTTGGACAGCACTTTACCTTTGTACTGACAGACATTGAAAGTAAACAGAGATTTGGATTCTGCAGACTGAC)GTCAGGAGGCACAATTTGTTTATGCATCCTTAG___TTACCTTCCCTGGTTTGAAGTGTATTACAAGCTTCTAAATACTCTTGCAGATTACTTGGCTAAGGAACTG___GAAAATGATTTGAATGAAACTCTCAGATCACTGTATAACCACCCAGTACCAAAGGCAAATACTCCTGTAAATTTGAGTGTG|AGGGAGATTTGAGACAGcAGAAGAGAAGACACGAAGGAGGGAAGGAAGTGATGTGACCACAGAG(GCAGCGATTGGAGTGATGTAGTCACAAGCCAAGGAGCACCAACAGCCACCAGGAGCTGGAAGAGCCCAAGAGTATATACTAATACCTGGATTTGGGACTTGGGACTTCTGGTCTCTAGAAGTAGGAAAGAATAAACATCTGTTTTTTGTT)$ MDCRTKANPDRTFDLVLKVKCHASENEDPVVLWKFPEDFGDQEILQSVPKFCFPFDVERVSQNQVGQHFTFVLTDIESKQRFGFCRLTSGGTICLCILSYLPWFEVYYKLLNTLADYLAKELENDLNETLRSLYNHPVPKANTPVNLSV|rei* 11BR059 ENSG00000118482.12 ENSG00000262566.1(572925),ENSG00000217477.2(8820) +/+ ./+ chr6:63636150 chr6:63184252 5'UTR/splice-site intergenic duplication 0 2 1 30 27 high . . . . . ENSG00000118482.12 . ENST00000262043.8 . downstream upstream . ^(AGTGGGGTCACGTGACACGGCCCCTCTCCAGCTCCCGCGCCGCCGCCGCACGCCGATGGCTGCGGGGTCTCGCGCCGTCGCACCGTCCCCACGCGGCAAGCGACCTTCGGGCTCAGGGCGGCGGCGGCTGCAACGAGGATTAGGAGGGCGGCGCGGAAGCCAAGAATAGTGTCGTCAGCAGCAGCCATTTGGTCCCAGGAGGAA)AAGAGGCTGTGGCAGCGACGCCGACGTCCTGCGCGTACCCCCTCTCCGCGGCACCCACCGGGCCCCCTCCgCCTCCTCTTCGGCGGCGGCAGCGTCCACCATCTTCCTCTTGCTGCCAGTGGTAGCGCTCGTCTGGCGGAGCTGG|AGTCTCTCTCTGTTGCCCAGACTGGAGTGCAGGGGCTTGATCTTGGCTCCTTGCAAACTTCACCTCAAATGATCTGCCCACCTCAGCCTCCCAAAGTGTGAGGATTACAG___GAAACCACACATCAGGCCTTCCAGACAGTATCAAGGAAAG . 11BR059 ENSG00000213047.13 ENSG00000233827.2(1724),ENSG00000273093.1(99389) -/- ./- chr1:197652235 chr1:200216046 CDS/splice-site intergenic duplication 1 2 0 37 2 high out-of-frame . DENN_(AEX-3)_domain(100%),uDENN_domain(100%)| . . ENSG00000213047.13 . ENST00000620048.6 . upstream downstream . ^(GCAAGAAGGTGCAGGAGCCGCAGCGGGCGGCCCCGGTCGCAGGAACTGAGAGGCCTCAGCTTTGGTGGCGGCTACCGGCGGAGACGGGGGCGGCGGCCACGCCACCGCTGCTGTCACAGAAAGGCTCTGGTGGGTGGGGTGGGAGGCGGGGAAGTGCCGGGGGCGCAGCCGACATGGGCCCGCCGCCACGGCTGCTGTGAGCAGCCTCTTTCCCTGTGTGGCCGCCGGCGTGGGCGGGGACGGCGCGACCCTCGCGCGGCCGGGCTGCGGGCTTCCAGGCCAGCGCGCGGGGGCCGGACGGACAGCCCCACACCGACATGTAACCATGGACTGCAGGACCAA___GGCAAATCCAGACAGAACCTTTGACTTGGTGTTGAAAGTGAAATGTCATGCCTCTGAAAATGAAG___ATCCTGTGGTATTGTGGAAATTCCCAGAGGACTTTGGAGACCAG___GAAATACTACAGAGTGTGCCAAAGTTCTGTTTTCCCTTTGACGTTGAAAG___GGTGTCTCAGAATCAAGTTGGACAGCACTTTACCTTTGTACTGACAGACATTGAAAGTAAACAGAGATTTGGATTCTGCAGACTGACGTCAGGAGGCACAATTTGTTTATGCATCCTTAG___TTACCTTCCCTGGTTTGAAGTGTATTACAAGCTTCTAAATACT)CTTGCAGATTACTTGGCTAAGGAACTG___GAAAATGATTTGAATGAAACTCTCAGATCACTGTATAACCACCCAGTACCAAAGGCAAATACTCCTGTAAATTTGAGTGTG|GAAAATATCCACCCAGTCGTGGCAACAATGGTCAAAGCAGTTCCAGACATTTGTTCTAGTACTCCtGCACTTAGAGGGAAGGGGAGAGCCTTGGTCCAGGAGCACTAGCTGAAGTACTGGAG MDCRTKANPDRTFDLVLKVKCHASENEDPVVLWKFPEDFGDQEILQSVPKFCFPFDVERVSQNQVGQHFTFVLTDIESKQRFGFCRLTSGGTICLCILSYLPWFEVYYKLLNTLADYLAKELENDLNETLRSLYNHPVPKANTPVNLSV|enihpvvatmvkavpdicsstpalrgkgralvqeh* 11BR059 ENSG00000149311.18 ENSG00000179331.3(31544),ENSG00000288012.1(13652) +/+ ./+ chr11:108354874 chr11:107995026 CDS/splice-site intergenic duplication 1 2 0 33 2 high out-of-frame . FAT_domain(100%),Phosphatidylinositol_3-_and_4-kinase(100%),Telomere-length_maintenance_and_DNA_damage_repair(100%)| . . ENSG00000149311.18 . ENST00000278616.8 . downstream upstream . ^(CCGGAGCCCGAGCCGAAGGGCGAGCCGCAAACGCTAAGTCGCTGGCCATTGGTGGACATGGCGCAGGCGCGTTTGCTCCGACGGGCCGAATGTTTTGGGGCAGTGTTTTGAGCGCGGAGACCGCGTGATACTGGATGCGCATGGGCATACCGTGCTCTGCGGCTGCTTGGCGTTGCTTCTTCCTCCAGAAGTGGGCGCTGGGCAGTCACGCAGGGTTTGAACCGGAAGCGGGAGTAGGTAGCTGCGTGGCTAACGGAGAAAAGAAGCCGTGGCCGCGGGAGGAGGCGAGAGGAGTCGGGATCTGCGCTGCAGCCACCGCCGCGGTTGATACTACTTTGACCTTCCGAGTGCAGTG___ACAGTGATGTGTGTTCTGAAATTGTGAACCATGAGTCTAGTACTTAATGATCTGCTTATCTGCTGCCGTCAACTAGAACATGATAGAGCTACAGAACGAAAG___AAAGAAGTTGAGAAATTTAAGCGCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATCGGCATTCAGATTCCAAACAAGGAAAATATTTGAATTGGGATGCTGTTTTTAG___ATTTTTACAGAAATATATTCAGAAAGAAACAGAATGTCTGAGAATAGCAAAACCAAATGTATCAGCCTCAACACAAGCCTCCAGGCAGAAAAAGATGCAGGAAATCAGTAGTTTGGTCAAATACTTCATCAAATGTGCAAACAGAA___GAGCACCTAGGCTAAAATGTCAAGAACTCTTAAATTATATCATGGATACAGTGAAAGATTCATCTAATGGTGCTATTTACGGAGCTGATTGTAGCAACATACTACTCAAAGACATTCTTTCTGTGAGAAAATACTGGTGTGAAATATCTCAGCAACAGTGGTTAG___AATTGTTCTCTGTGTACTTCAGGCTCTATCTGAAACCTTCACAAGATGTTCATAGAGTTTTAGTGGCTAGAATAATTCATGCTGTTACCAAAGGATGCTGTTCTCAGACTGACGGATTAAATTCCAAATTTTTGGACTTTTTTTCCAAGGCTATTCAGTGTGCGAG___ACAAGAAAAGAGCTCTTCAGGTCTAAATCATATCTTAGCAGCTCTTACTATCTTCCTCAAGACTTTGGCTGTCAACTTTCGAATTCGAGTGTGTGAATTAGGAGATGAAATTCTTCCCACTTTGCTTTATATTTGGACTCAACATAGGCTTAATGATTCTTTAAAAGAAGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAAG___GTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAG___GTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTG___GCTACAGATTGCAACCCAATTAATATCAAAGTATCCTGCAAGTTTACCTAACTGTGAGCTGTCTCCATTACTGATGATACTATCTCAGCTTCTACCCCAACAGCGACATGGGGAACGTACACCATATGTGTTACGATGCCTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTTCATG___TCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAG___TAATTTTCCTCATCTTGTACTGGAGAAAATTCTTGTGAGTCTCACTATGAAAAACTGTAAAGCTGCAATGAATTTTTTCCAAAGCGTGCCAGAATG___TGAACACCACCAAAAAGATAAAGAAGAACTTTCATTCTCAGAAGTAGAAGAACTATTTCTTCAGACAACTTTTGACAAGATGGACTTTTTAACCATTGTGAGAGAATGTGGTATAGAAAAGCACCAGTCCAGTATTGGCTTCTCTGTCCACCAGAATCTCAAGGAATCACTGGATCGCTGTCTTCTGGGATTATCAGAACAGCTTCTGAATAATTACTCATCTGAG___ATTACAAATTCAGAAACTCTTGTCCGGTGTTCACGTCTTTTGGTGGGTGTCCTTGGCTGCTACTGTTACATGGGTGTAATAGCTGAAGAGGAAGCATATAAGTCAGAATTATTCCAGAAAGCCAAG___TCTCTAATGCAATGTGCAGGAGAAAGTATCACTCTGTTTAAAAATAAGACAAATGAGGAATTCAGAATTGGTTCCTTGAGAAATATGATGCAGCTATGTACACGTTGCTTGAGCAACTGTACCAAG___AAGAGTCCAAATAAGATTGCATCTGGCTTTTTCCTGCGATTGTTAACATCAAAGCTAATGAATGACATTGCAGATATTTGTAAAAGTTTA___GCATCCTTCATCAAAAAGCCATTTGACCGTGGAGAAGTAGAATCAATGGAAGATGATACTAATGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTATTTAACGATTACCCTGATAGTAGTGTTAGTGATGCAAACGAACCTGGAGAGAGCCAAAGTACCATAG___GTGCCATTAATCCTTTAGCTGAAGAATATCTGTCAAAGCAAGATCTACTTTTCTTAGACATGCTCAAGTTCTTGTGTTTGTGTGTAACTACTGCTCAGACCAATACTGTGTCCTTTAGGGCAGCTGATATTCGGAGGAAATTGTTAATGTTAATTGATTCTAGCACGCTAGAACCTACCAAATCCCTCCACCTGCATATG___TATCTAATGCTTTTAAAGGAGCTTCCTGGAGAAGAGTACCCCTTGCCAATGGAAGATGTTCTTGAACTTCTGAAACCACTATC___CAATGTGTGTTCTTTGTATCGTCGTGACCAAGATGTTTGTAAAACTATTTTAAACCATGTCCTTCATGTAGTGAAAAACCTAGGTCAAAGCAATATGGACTCTGAGAACACAAGGGATGCTCAAGGACAGTTTCTTACAGTAATTGGAGCATTTTG___GCATCTAACAAAGGAGAGGAAATATATATTCTCTGTAAGAATGGCCCTAGTAAATTGCCTTAAAACTTTGCTTGAG___GCTGATCCTTATTCAAAATGGGCCATTCTTAATGTAATGGGAAAAGACTTTCCTGTAAATGAAGTATTTACACAATTTCTTGCTGACAATCATCACCAAGTTCGCATGTTGGCTGCAGAGTCAATCAATAG___ATTGTTCCAGGACACGAAGGGAGATTCTTCCAGGTTACTGAAAGCACTTCCTTTGAAGCTTCAGCAAACAGCTTTTGAAAATGCATACTTGAAAGCTCAGGAAGGAATGAGAGAAATG___TCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATCTGCGAAAAACAGGCTTTGTTTGCCCTGTGTAAATCTGTGAAAGAGAATGGATTAGAACCTCACCTTGTGAAAAAG___GTTTTAGAGAAAGTTTCTGAAACTTTTGGATATAGACGTTTAGAAGACTTTATGGCATCTCATTTAGATTATCTGGTTTTGGAATGGCTAAATCTTCAAGATACTGAATACAACTTATCTTCTTTTCCTTTTATTTTATTAAACTACACAAATATTGAGGATTTCTATAG___ATCTTGTTATAAGGTTTTGATTCCACATCTGGTGATTAGAAGTCATTTTGATGAGGTGAAGTCCATTGCTAATCAGATTCAAGAGGACTGGAAAAGTCTTCTAACAGACTGCTTTCCAAAGATTCTTGTAAATATTCTTCCTTATTTTGCCTATGAGGGTACCAGAGACAGTGGGATGGCACAGCAAAGAGAGACTGCTACCAAGGTCTATGATATGCTTAAAAGTGAAAACTTATTGGGAAAACAG___ATTGATCACTTATTCATTAGTAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGG___GGATTTGGATCCTGCTCCTAATCCACCTCATTTTCCATCGCATGTGATTAAAGCAACATTTGCCTATATCAGCAATTGTCATAAAACCAAGTTAAAAAGCATTTTAGAAATTCTTTCCAAAAGCCCT___GATTCCTATCAGAAAATTCTTCTTGCCATATGTGAGCAAGCAGCTGAAACAAATAATGTTTATAAGAAGCACAGAATTCTTAAAATATATCACCTGTTTGTTAGTTTATTACTGAAAGATATAAAAAGTGGCTTAGGAGGAGCTTGGGCCTTTGTTCTTCGAGACGTTATTTATACTTTGATTCACTATATCAACCAAAG___GCCTTCTTGTATCATGGATGTGTCATTACGTAGCTTCTCCCTTTGTTGTGACTTATTAAGTCAGGTTTGCCAGACAGCCGTGACTTACTGTAAGGATGCTCTAGAAAACCATCTTCATGTTATTGTTGGTACACTTATACCCCTTGTGTATGAGCAGGTGGAGGTTCAGAAACAG___GTATTGGACTTGTTGAAATACTTAGTGATAGATAACAAGGATAATGAAAACCTCTATATCACGATTAAGCTTTTAGATCCTTTTCCTGACCATGTTGTTTTTAAGGATTTGCGTATTACTCAGCAAAAAATCAAATACAGTAGAGGACCCTTTTCACTCTTGGAG___GAAATTAACCATTTTCTCTCAGTAAGTGTTTATGATGCACTTCCATTGACAAGACTTGAAGGACTAAAGGATCTTCGAAGACAACTGGAACTACATAAAGATCAGATGGTGGACATTATGAGAGCTTCTCAGG___ATAATCCGCAAGATGGGATTATGGTGAAACTAGTTGTCAATTTGTTGCAGTTATCCAAGATGGCAATAAACCACACTGGTGAAAAAGAAGTTCTAG___AGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTG___TGTCAAAGTTCGATCAGCAGCTGTTACCTGTTTGAAAAACATTTTAGCCACAAAGACTGGACATAGTTTCTGGGAGATTTATAAGATGACAACAGATCCAATGCTGGCCTATCTACAGCCTTTTAGAACATCAAGAAAAAAG___TTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAA___GTGAAAACTGACTTTTGTCAGACTGTACTTCCATACTTGATTCATGATATTTTACTCCAAGATACAAATGAATCATGGAGAAATCTGCTTTCTACACATGTTCAGGGATTTTTCACCAGCTGTCTTCGACACTTCTCGCAAACGAGCCGATCCACAACCCCTGCAAACTTGGATTCAG___AGTCAGAGCACTTTTTCCGATGCTGTTTGGATAAAAAATCACAAAGAACAATGCTTGCTGTTGTGGACTACATGAGAAGACAAAAGAG___ACCTTCTTCAGGAACAATTTTTAATGATGCTTTCTGGCTGGATTTAAATTATCTAGAAGTTGCCAAGGTAGCTCAGTCTTGTGCTGCTCACTTTACAGCTTTACTCTATGCAGAAATCTATGCAGATAAGAAAAGTATGGATGATCAAGAGAAAAG___AAGTCTTGCATTTGAAGAAGGAAGCCAGAGTACAACTATTTCTAGCTTGAGTGAAAAAAGTAAAGAAGAAACTGGAATAAGTTTACAG___GATCTTCTCTTAGAAATCTACAGAAGTATAGGGGAGCCAGATAGTTTGTATGGCTGTGGTGGAGGGAAGATGTTACAACCCATTACTAG___ACTACGAACATATGAACACGAAGCAATGTGGGGCAAAGCCCTAGTAACATATGACCTCGAAACAGCAATCCCCTCATCAACACGCCAGGCAGGAATCATTCAG___GCCTTGCAGAATTTGGGACTCTGCCATATTCTTTCCGTCTATTTAAAAGGATTGGATTATGAAAATAAAGACTGGTGTCCTGAACTAGAAGAACTTCATTACCAAGCAGCATGGAGGAATATGCAGTGGGACCATTGCACTTCCGTCAG___CAAAGAAGTAGAAGGAACCAGTTACCATGAATCATTGTACAATGCTCTACAATCTCTAAGAGACAGAGAATTCTCTACATTTTATGAAAGTCTCAAATATGCCAG___AGTAAAAGAAGTGGAAGAGATGTGTAAGCGCAGCCTTGAGTCTGTGTATTCGCTCTATCCCACACTTAGCAGGTTGCAGGCCATTGGAGAGCTGGAAAGCATTGGGGAGCTTTTCTCAAG___ATCAGTCACACATAGACAACTCTCTGAAGTATATATTAAGTGGCAGAAACACTCCCAGCTTCTCAAGGACAGTGATTTTAGTTTTCAGGAGCCTATCATGGCTCTACGCACAGTCATTTTGGAGATCCTGATGGAAAAGGAAATGGACAACTCACAAAGAGAATGTATTAAGGACATTCTCACCAAACACCTTGTAGAACTCTCTATACTGGCCAGAACTTTCAAGAACACTCAG___CTCCCTGAAAGGGCAATATTTCAAATTAAACAGTACAATTCAGTTAGCTGTGGAGTCTCTGAGTGGCAGCTGGAAGAAGCACAAGTATTCTGGGCAAAAAAGGAGCAGAGTCTTGCCCTGAGTATTCTCAAGCAAATGATCAAGAAGTTGGATGCCAGCTGTGCAGCG___AACAATCCCAGCCTAAAACTTACATACACAGAATGTCTGAGGGTTTGTGGCAACTGGTTAGCAGAAACGTGCTTAGAAAATCCTGCGGTCATCATGCAGACCTATCTAGAAAAG___GCAGTAGAAGTTGCTGGAAATTATGATGGAGAAAGTAGTGATGAGCTAAGAAATGGAAAAATGAAGGCATTTCTCTCATTAGCCCGGTTTTCAGATACTCAATACCAAAGAATTGAAAACTACATGAAATCATCGGAATTTGAAAACAAGCAAGCTCTCCTGAAAAGAGCCAAAGAGGAAGTAGGTCTCCTTAGGGAACATAAAATTCAGACAAACAG___ATACACAGTAAAGGTTCAGCGAGAGCTGGAGTTGGATGAATTAGCCCTGCGTGCACTGAAAGAGGATCGTAAACGCTTCTTATGTAAAGCAGTTGAAAATTATATCAACTGCTTATTAAGTGGAGAAGAACATGATATGTGGGTATTCCGACTTTGTTCCCTCTGGCTTGAAAATTCTGGAGTTTCTGAAGTCAATGGCATGATGAAG___AGAGACGGAATGAAGATTCCAACATATAAATTTTTGCCTCTTATGTACCAATTGGCTGCTAGAATGGGGACCAAGATGATGGGAGGCCTAGGATTTCATGAAGTCCTCAATAAT___CTAATCTCTAGAATTTCAATGGATCACCCCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAG___GATCGAACAGAGGCTGCAAATAGAATAATATGTACTATCAGAAGTAGGAGACCTCAGATGGTCAGAAGTGTTGAGGCACTTTGTGATGCTTATATTATATTAGCAAACTTAGATGCCACTCAGTGGAAGACTCAGAGAA___AAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAG___GTGGACCACACAGGAGAATATGGAAATCTGGTGACTATACAGTCATTTAAAGCAGAATTTCGCTTAGCAGGAGGTGTAAATTTACCAAAAATAATAGATTGTGTAGGTTCCGATGGCAAGGAGAGGAGACAGCTTGTTAAG___GGCCGTGATGACCTGAGACAAGATGCTGTCATGCAACAGGTCTTCCAGATGTGTAATACATTACTGCAGAGAAACACGGAAACTAGGAAGAGGAAATTAACTATCTGTACTTATAAG___GTGGTTCCCCTCTCTCAGCGAAGTGGTGTTCTTGAATGGTGCACAGGAACTGTCCCCATTGGTGAATTTCTTGTTAACAATGAAGATGGTGCTCATAAAAGATACAGGCCAAATGATTTCAGTGCCTTTCAGTGCCAAAAGAAAATGATG___GAGGTGCAAAAAAAGTCTTTTGAAGAGAAATATGAAGTCTTCATGGATGTTTGCCAAAATTTTCAACCAGTTTTCCGTTACTTCTGCATGGAAAAATTCTTGGATCCAGCTATTTGGTTTGAGAAGCGATTGGCTTATACGCGCAGTGTAGCTACTTCTTCTATTG___TTGGTTACATACTTGGACTTGGTGATAGACATGTACAGAATATCTTGATAAATGAGCAGTCAGCAGAACTTGTACATATAGATCTAG___GTGTTGCTTTTGAACAGGGCAAAATCCTTCCTACTCCTGAGACAGTTCCTTTTAGACTCACCAGAGATATTGTGG)ATGGCATGGGCATTACGGGTGTTGAAGGTGTCTTCAGAAG___ATGCTGTGAGAAAACCATGGAAGTGATGAGAAACTCTCAGGAAACTCTGTTAACCATTGTAGAG|TTACTTCCTCCACTGAAGGCTTGAACACCTCAAAGTCATCCATGAGGGCTGGAATCAACTTCCTTCAAACTCCTGTTAATGTTGCTATTTTGACCTCCTGCCATGAATCACAAATGTCCTTAATGTCATCTAGACTGGTGAATCCTTTCCAGAAGGTTTTTGATTTATTCTGCC MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDRHSDSKQGKYLNWDAVFRFLQKYIQKETECLRIAKPNVSASTQASRQKKMQEISSLVKYFIKCANRRAPRLKCQELLNYIMDTVKDSSNGAIYGADCSNILLKDILSVRKYWCEISQQQWLELFSVYFRLYLKPSQDVHRVLVARIIHAVTKGCCSQTDGLNSKFLDFFSKAIQCARQEKSSSGLNHILAALTIFLKTLAVNFRIRVCELGDEILPTLLYIWTQHRLNDSLKEVIIELFQLQIYIHHPKGAKTQEKGAYESTKWRSILYNLYDLLVNEISHIGSRGKYSSGFRNIAVKENLIELMADICHQVFNEDTRSLEISQSYTTTQRESSDYSVPCKRKKIELGWEVIKDHLQKSQNDFDLVPWLQIATQLISKYPASLPNCELSPLLMILSQLLPQQRHGERTPYVLRCLTEVALCQDKRSNLESSQKSDLLKLWNKIWCITFRGISSEQIQAENFGLLGAIIQGSLVEVDREFWKLFTGSACRPSCPAVCCLTLALTTSIVPGTVKMGIEQNMCEVNRSFSLKESIMKWLLFYQLEGDLENSTEVPPILHSNFPHLVLEKILVSLTMKNCKAAMNFFQSVPECEHHQKDKEELSFSEVEELFLQTTFDKMDFLTIVRECGIEKHQSSIGFSVHQNLKESLDRCLLGLSEQLLNNYSSEITNSETLVRCSRLLVGVLGCYCYMGVIAEEEAYKSELFQKAKSLMQCAGESITLFKNKTNEEFRIGSLRNMMQLCTRCLSNCTKKSPNKIASGFFLRLLTSKLMNDIADICKSLASFIKKPFDRGEVESMEDDTNGNLMEVEDQSSMNLFNDYPDSSVSDANEPGESQSTIGAINPLAEEYLSKQDLLFLDMLKFLCLCVTTAQTNTVSFRAADIRRKLLMLIDSSTLEPTKSLHLHMYLMLLKELPGEEYPLPMEDVLELLKPLSNVCSLYRRDQDVCKTILNHVLHVVKNLGQSNMDSENTRDAQGQFLTVIGAFWHLTKERKYIFSVRMALVNCLKTLLEADPYSKWAILNVMGKDFPVNEVFTQFLADNHHQVRMLAAESINRLFQDTKGDSSRLLKALPLKLQQTAFENAYLKAQEGMREMSHSAENPETLDEIYNRKSVLLTLIAVVLSCSPICEKQALFALCKSVKENGLEPHLVKKVLEKVSETFGYRRLEDFMASHLDYLVLEWLNLQDTEYNLSSFPFILLNYTNIEDFYRSCYKVLIPHLVIRSHFDEVKSIANQIQEDWKSLLTDCFPKILVNILPYFAYEGTRDSGMAQQRETATKVYDMLKSENLLGKQIDHLFISNLPEIVVELLMTLHEPANSSASQSTDLCDFSGDLDPAPNPPHFPSHVIKATFAYISNCHKTKLKSILEILSKSPDSYQKILLAICEQAAETNNVYKKHRILKIYHLFVSLLLKDIKSGLGGAWAFVLRDVIYTLIHYINQRPSCIMDVSLRSFSLCCDLLSQVCQTAVTYCKDALENHLHVIVGTLIPLVYEQVEVQKQVLDLLKYLVIDNKDNENLYITIKLLDPFPDHVVFKDLRITQQKIKYSRGPFSLLEEINHFLSVSVYDALPLTRLEGLKDLRRQLELHKDQMVDIMRASQDNPQDGIMVKLVVNLLQLSKMAINHTGEKEVLEAVGSCLGEVGPIDFSTIAIQHSKDASYTKALKLFEDKELQWTFIMLTYLNNTLVEDCVKVRSAAVTCLKNILATKTGHSFWEIYKMTTDPMLAYLQPFRTSRKKFLEVPRFDKENPFEGLDDINLWIPLSENHDIWIKTLTCAFLDSGGTKCEILQLLKPMCEVKTDFCQTVLPYLIHDILLQDTNESWRNLLSTHVQGFFTSCLRHFSQTSRSTTPANLDSESEHFFRCCLDKKSQRTMLAVVDYMRRQKRPSSGTIFNDAFWLDLNYLEVAKVAQSCAAHFTALLYAEIYADKKSMDDQEKRSLAFEEGSQSTTISSLSEKSKEETGISLQDLLLEIYRSIGEPDSLYGCGGGKMLQPITRLRTYEHEAMWGKALVTYDLETAIPSSTRQAGIIQALQNLGLCHILSVYLKGLDYENKDWCPELEELHYQAAWRNMQWDHCTSVSKEVEGTSYHESLYNALQSLRDREFSTFYESLKYARVKEVEEMCKRSLESVYSLYPTLSRLQAIGELESIGELFSRSVTHRQLSEVYIKWQKHSQLLKDSDFSFQEPIMALRTVILEILMEKEMDNSQRECIKDILTKHLVELSILARTFKNTQLPERAIFQIKQYNSVSCGVSEWQLEEAQVFWAKKEQSLALSILKQMIKKLDASCAANNPSLKLTYTECLRVCGNWLAETCLENPAVIMQTYLEKAVEVAGNYDGESSDELRNGKMKAFLSLARFSDTQYQRIENYMKSSEFENKQALLKRAKEEVGLLREHKIQTNRYTVKVQRELELDELALRALKEDRKRFLCKAVENYINCLLSGEEHDMWVFRLCSLWLENSGVSEVNGMMKRDGMKIPTYKFLPLMYQLAARMGTKMMGGLGFHEVLNNLISRISMDHPHHTLFIILALANANRDEFLTKPEVARRSRITKNVPKQSSQLDEDRTEAANRIICTIRSRRPQMVRSVEALCDAYIILANLDATQWKTQRKGINIPADQPITKLKNLEDVVVPTMEIKVDHTGEYGNLVTIQSFKAEFRLAGGVNLPKIIDCVGSDGKERRQLVKGRDDLRQDAVMQQVFQMCNTLLQRNTETRKRKLTICTYKVVPLSQRSGVLEWCTGTVPIGEFLVNNEDGAHKRYRPNDFSAFQCQKKMMEVQKKSFEEKYEVFMDVCQNFQPVFRYFCMEKFLDPAIWFEKRLAYTRSVATSSIVGYILGLGDRHVQNILINEQSAELVHIDLGVAFEQGKILPTPETVPFRLTRDIVDGMGITGVEGVFRRCCEKTMEVMRNSQETLLTIVE|llpplka* 11BR059 ENSG00000162851.8 ENSG00000091483.7 -/- -/+ chr1:246564346 chr1:241503874 CDS/splice-site intron inversion/5'-5' 1 2 0 67 19 high out-of-frame . Ribosomal_RNA_adenine_dimethylase(100%)| . . ENSG00000162851.8 ENSG00000091483.7 ENST00000366514.5 . upstream upstream . ^(AGTGTTTACTTCCGCTTGACCTGGCCCGGACGCCAGAAAATGTTCCACGTGGGATACCCTGCGTGGGGTTCACTGTAGTAGCTGCACTAGGTGATTCTTGGAGCGGGCCTGAGAGACAAGGACATGTGGATCCCAGTGGTCGGGCTTCCTCGGCGGCTGAGGCTCTCCGCCTTGGCGGGCGCTGGTCGCTTTTGCATTTTAGGGTCTGAAGCGGCGACGCGAAAGCATTTGCCGGCGAGGAACCACTGTGGGCTCTCTGACTCCTCTCCGCAGCTGTGGCCCGAACCGGATTTCAGGAATCCGCCAAGGAAGGCGTCTAAGGCCAGCTTAGACTTTAAGCGTTACGTAACCGATCGGAGATT)GGCTGAGACCCTGGCGCAAATCTATTTGGGAAAACCAAGTAGACCTCCACACCTACTGCTGGAGTGCAATCCAG___GTCCTGGAATCCTGACTCAGGCATTACTTGAAGCTGGTGCCAAAGTGGTTGCGCTCGAAAGTGACAAAACTTTTATTCCACATTTGGAG|GTGACGTGCCCAGCAGTCCTGACCAGAGGACCACAGACATGCTGGAACAGTGCGCCTTGtGCATCCAGCTtCGGGATAACTTTAAACAAAGAGAGACATGGTCCATAGCTAAGAATGCCTAGGACCTAGTCAAGTTTTAGCTCCAACATTTACTAGCTATGTGATTACCTGGC MWIPVVGLPRRLRLSALAGAGRFCILGSEAATRKHLPARNHCGLSDSSPQLWPEPDFRNPPRKASKASLDFKRYVTDRRLAETLAQIYLGKPSRPPHLLLECNPGPGILTQALLEAGAKVVALESDKTFIPHLE|vtcpavltrgpqtcwnsapcassfgitlnkerhgp* 11BR059 ENSG00000074410.14 ENSG00000166803.13 -/- -/- chr15:63327149 chr15:64366075 CDS/splice-site CDS/splice-site duplication 29 0 0 230 84 medium in-frame . Eukaryotic-type_carbonic_anhydrase(100%)| . . ENSG00000074410.14 ENSG00000166803.13 ENST00000178638.8 ENST00000300035.9 upstream downstream . ^(GAAGGGCGGACGTACTCGCCACGGCACCCAGGCTGCGCGCACGCGGTCCCGGTGTGCAGCTGGAGAGCGAGCGGCCACCGGGAGCCCCCGGCACAGCCCGCGCCCGCCCCGCAGGAGCCCGCGAAGATGCCCCGGCGCAGCCTGCACGCGGCGGCCGTGCTCCTGCTGGTGATCTTAAAGGAACAGCCTTCCAGCCCGGCCCCAGTGAACG___GTTCCAAGTGGACTTATTTTG___GTCCTGATGGGGAGAATAGCTGGTCCAAGAAGTACCCGTCGTGTGGGGGCCTGCTGCAGTCCCCCATAGACCTGCACAGTGACATCCTCCAGTATGACGCCAGCCTCACGCCCCTCGAGTTCCAAGGCTACAATCTGTCTGCCAACAAGCAGTTTCTCCTGACCAACAATGGCCATTCAG___TGAAGCTGAACCTGCCCTCGGACATGCACATCCAGGGCCTCCAGTCTCGCTACAGTGCCACGCAGCTGCACCTGCACTGGGGGAACCCGAATGACCCGCACGGCTCTGAGCACACCGTCAGCGGACAGCACTTCGCCGCCGAG___CTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAG___ATGGGCTCCTTCAATCCGTCCTATGACAAGATCTTCAGTCACCTTCAACATGTAAAGTACAAAG___GCCAGGAAGCATTCGTCCCGGGATTCAACATTGAAGAGCTGCTTCCGGAGAGGACCGCTGAATATTACCGCTACCGGGGGTCCCTGACCACACCCCCTTGCAACCCCACTGTGCTCTGGACA)GTTTTCCGAAACCCCGTGCAAATTTCCCAGGAGCAG___CTGCTGGCTTTGGAGACAGCCCTGTACTGCACACACATGGACGACCCTTCCCCCAGAGAAATGATCAACAACTTCCGGCAGGTCCAGAAGTTCGATGAGAGGCTGGTATACACCTCCTTCTCCCAAG___TGCAAGTCTGTACTGCGGCAGGACTGAGTCTGG___GCATCATCCTCTCACTGGCCCTGGCTGGCATTCTTGGCATCTGTATTGTGGTGGTGGTGTCCATTTGGCTTTTCAGAAGGAAGAG|AGCATGTCCTTTGCAACCTGATCACACAAATGATGAAAAAGAATAGAACTTTCTCATTCATCTTTGAATAACGTCTCCTTGTTTACCC(TGGTATTCTAGAATGTAAATTTACATAAATGTGTTTGTTCCAATTAGCTTTGTTGAACAGGCATTTAATTAAAAAATTTAGGTTTAAATTTAGATGTTCAAAAGTAGTTGTGAAATTTGAGAATTTGTAAGACTAATTATGGTAACTTAGCTTAGTATTCAATATAATGCATTGTTTGGTTTCTTTTACCAAATTAAGTGTCTAGTTCTTGCTAAAATCAAGTCATTGCATTGTGTTCTAATTACAAGTATGTTGTATTTGAGATTTGCTTAGATTGTTGTACTGCTGCCATTTTTATTGGTGTTTGATTATTGGAATGGTGCCATATTGTCACTCCTTCTACTTGCTTTAAAAAGCAGAGTTAGATTTTTGCACATTAAAAAATTCAGTATTAATTAAACATTACTTATTCTACCCTCTTTTTTGGCAAGGAGGACAAATACGCAATGTTGGAAAACCTTGGATGGATATCTTCTCTTTAAAAAAATGTAAAGATAATTTGGTCTTGAGGGTTTAAACGGTTGATAATGCCTCTACAACAACAAGAAAAAAGATAAAATACTAGGATAGAATCATGGTGGGCACAGTGGCTTCTCAGGAGGCTGAGGAGGGAGGTTTGCTTGAGTCCAGGAGTTGGAGACCAGCCCAGGCAACATAGCGTAAACCCTATCTCTAAAACAATTTTTAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGCCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCGGCAGTCCGGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATTTTAAAAAAGGCTGAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGATAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAACTGTCACTACTAAAAATGAAAAAATGAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCCAGATTGTGCCACTGCACTCCAGCCTGAACAACAGAGTGAGACAATGTCTTAAAAAAAAAAAAAGAAAGAAAAGAAAAAAATATATATTTATATATGAACAATAAAAAATTAGCCTGGCATGGTGGCACACACAGTGGAACCAGATCCCATCTCTTAAAAGAAATTTTCCTAGGATTTGCATTTGATTCGCTATCATAAAATATAATTTTAAAGTTGGAAGTCAATATAACATGAAAGGCAAATCATGCCATAAACCCATAGGCATGGCAAAACTCCTAAGAGCTACTATGACATTTTTCAACATAACCAGAGGTATAATTGAAGAAGTGGGTATAATATTCCTCATCACCCTTTTTGCAGCAGCCTGTTGTCAAAAGTAATCATATTTTAGTAGGCATATTTTTCTGAAATACGTTTGTAATAAATGCATACTTATTTTTACAATACACTA)$ MPRRSLHAAAVLLLVILKEQPSSPAPVNGSKWTYFGPDGENSWSKKYPSCGGLLQSPIDLHSDILQYDASLTPLEFQGYNLSANKQFLLTNNGHSVKLNLPSDMHIQGLQSRYSATQLHLHWGNPNDPHGSEHTVSGQHFAAELHIVHYNSDLYPDASTASNKSEGLAVLAVLIEMGSFNPSYDKIFSHLQHVKYKGQEAFVPGFNIEELLPERTAEYYRYRGSLTTPPCNPTVLWTVFRNPVQISQEQLLALETALYCTHMDDPSPREMINNFRQVQKFDERLVYTSFSQVQVCTAAGLSLGIILSLALAGILGICIVVVVSIWLFRRKr|ACPLQPDHTNDEKE* 11BR059 ENSG00000074410.14 ENSG00000166803.13 -/- -/- chr15:63338819 chr15:64366075 CDS/splice-site CDS/splice-site duplication 13 0 0 183 84 medium out-of-frame . Eukaryotic-type_carbonic_anhydrase(100%)| . . ENSG00000074410.14 ENSG00000166803.13 ENST00000178638.8 ENST00000300035.9 upstream downstream duplicates(2) ^(GAAGGGCGGACGTACTCGCCACGGCACCCAGGCTGCGCGCACGCGGTCCCGGTGTGCAGCTGGAGAGCGAGCGGCCACCGGGAGCCCCCGGCACAGCCCGCGCCCGCCCCGCAGGAGCCCGCGAAGATGCCCCGGCGCAGCCTGCACGCGGCGGCCGTGCTCCTGCTGGTGATCTTAAAGGAACAGCCTTCCAGCCCGGCCCCAGTGAACG___GTTCCAAGTGGACTTATTTTG___GTCCTGATGGGGAGAATAGCTGGTCCAAGAAGTACCCGTCGTGTGGGGGCCTGCTGCAGTCCCCCATAGACCTGCACAGTGACATCCTCCAGTATGACGCCAGCCTCACGCCCCTCGAGTTCCAAGGCTACAATCTGTCTGCCAACAAGCAGTTTCTCCTGACCAACAATGGCCATTCAG___TGAAGCTGAACCTGCCCTCGGACATGCACATCCAGGGCCTCCAGTCTCGCTACAGTGCCACGCAGCTGCACCTGCACTGGGGGAACCCGAATGACCCGCACGGCTCTGAGCACACCGTCAGCGGACAGCACTTCGCCGCCGAG___CTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAG___ATGGGCTCCTTCAATCCGTCCTATGACAAGATCTTCAGTCACCTTCAACAT)GTAAAGTACAAAG___GCCAGGAAGCATTCGTCCCGGGATTCAACATTGAAGAGCTGCTTCCGGAGAGGACCGCTGAATATTACCGCTACCGGGGGTCCCTGACCACACCCCCTTGCAcCCCCACTGTGCTCTGGACAGTTTTCCGAAACCCCGTGCAAATTTCCCAGGAGCAG___CTGCTGGCTTTGGAGACAGCCCTGTACTGCACACACATGGACGACCCTTCCCCCAGAGAAATGATCAACAACTTCCGGCAGGTCCAGAAGTTCGATGAGAGGCTGGTATACACCTCCTTCTCCCAAG|AGCATGTCCTTTGCAACCTGATCACACAAATGATGAAAAAGAATAGAACTTTCTCATTCATCTTTGAATAACGTCTCCTTGTTTACCCTGG(TATTCTAGAATGTAAATTTACATAAATGTGTTTGTTCCAATTAGCTTTGTTGAACAGGCATTTAATTAAAAAATTTAGGTTTAAATTTAGATGTTCAAAAGTAGTTGTGAAATTTGAGAATTTGTAAGACTAATTATGGTAACTTAGCTTAGTATTCAATATAATGCATTGTTTGGTTTCTTTTACCAAATTAAGTGTCTAGTTCTTGCTAAAATCAAGTCATTGCATTGTGTTCTAATTACAAGTATGTTGTATTTGAGATTTGCTTAGATTGTTGTACTGCTGCCATTTTTATTGGTGTTTGATTATTGGAATGGTGCCATATTGTCACTCCTTCTACTTGCTTTAAAAAGCAGAGTTAGATTTTTGCACATTAAAAAATTCAGTATTAATTAAACATTACTTATTCTACCCTCTTTTTTGGCAAGGAGGACAAATACGCAATGTTGGAAAACCTTGGATGGATATCTTCTCTTTAAAAAAATGTAAAGATAATTTGGTCTTGAGGGTTTAAACGGTTGATAATGCCTCTACAACAACAAGAAAAAAGATAAAATACTAGGATAGAATCATGGTGGGCACAGTGGCTTCTCAGGAGGCTGAGGAGGGAGGTTTGCTTGAGTCCAGGAGTTGGAGACCAGCCCAGGCAACATAGCGTAAACCCTATCTCTAAAACAATTTTTAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGCCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCGGCAGTCCGGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATTTTAAAAAAGGCTGAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGATAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAACTGTCACTACTAAAAATGAAAAAATGAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCCAGATTGTGCCACTGCACTCCAGCCTGAACAACAGAGTGAGACAATGTCTTAAAAAAAAAAAAAGAAAGAAAAGAAAAAAATATATATTTATATATGAACAATAAAAAATTAGCCTGGCATGGTGGCACACACAGTGGAACCAGATCCCATCTCTTAAAAGAAATTTTCCTAGGATTTGCATTTGATTCGCTATCATAAAATATAATTTTAAAGTTGGAAGTCAATATAACATGAAAGGCAAATCATGCCATAAACCCATAGGCATGGCAAAACTCCTAAGAGCTACTATGACATTTTTCAACATAACCAGAGGTATAATTGAAGAAGTGGGTATAATATTCCTCATCACCCTTTTTGCAGCAGCCTGTTGTCAAAAGTAATCATATTTTAGTAGGCATATTTTTCTGAAATACGTTTGTAATAAATGCATACTTATTTTTACAATACACTA)$ MPRRSLHAAAVLLLVILKEQPSSPAPVNGSKWTYFGPDGENSWSKKYPSCGGLLQSPIDLHSDILQYDASLTPLEFQGYNLSANKQFLLTNNGHSVKLNLPSDMHIQGLQSRYSATQLHLHWGNPNDPHGSEHTVSGQHFAAELHIVHYNSDLYPDASTASNKSEGLAVLAVLIEMGSFNPSYDKIFSHLQHVKYKGQEAFVPGFNIEELLPERTAEYYRYRGSLTTPPCtPTVLWTVFRNPVQISQEQLLALETALYCTHMDDPSPREMINNFRQVQKFDERLVYTSFSQ|ehvlcnlitqmmkknrtfsfife* 11BR059 ENSG00000074410.14 ENSG00000166803.13 -/- -/- chr15:63326300 chr15:64369263 CDS intron duplication 1 3 0 203 8 medium out-of-frame . Eukaryotic-type_carbonic_anhydrase(100%)| . . ENSG00000074410.14 ENSG00000166803.13 ENST00000178638.8 . upstream downstream . ^(GAAGGGCGGACGTACTCGCCACGGCACCCAGGCTGCGCGCACGCGGTCCCGGTGTGCAGCTGGAGAGCGAGCGGCCACCGGGAGCCCCCGGCACAGCCCGCGCCCGCCCCGCAGGAGCCCGCGAAGATGCCCCGGCGCAGCCTGCACGCGGCGGCCGTGCTCCTGCTGGTGATCTTAAAGGAACAGCCTTCCAGCCCGGCCCCAGTGAACG___GTTCCAAGTGGACTTATTTTG___GTCCTGATGGGGAGAATAGCTGGTCCAAGAAGTACCCGTCGTGTGGGGGCCTGCTGCAGTCCCCCATAGACCTGCACAGTGACATCCTCCAGTATGACGCCAGCCTCACGCCCCTCGAGTTCCAAGGCTACAATCTGTCTGCCAACAAGCAGTTTCTCCTGACCAACAATGGCCATTCAG___TGAAGCTGAACCTGCCCTCGGACATGCACATCCAGGGCCTCCAGTCTCGCTACAGTGCCACGCAGCTGCACCTGCACTGGGGGAACCCGAATGACCCGCACGGCTCTGAGCACACCGTCAGCGGACAGCACTTCGCCGCCGAG___CTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAG___ATGGGCTCCTTCAATCCGTCCTATGACAAGATCTTCAGTCACCTTCAACATGTAAAGTACAAAG___GCCAGGAAGCATTCGTCCCGGGATTCAACATTGAAGAGCTGCTTCCGGAGAGGACCGCTGAATATTACCGCTACCGGGGGTCCCTGACCACACCCCCTTGCAACCCCACTGTGCTCTGGACAGTTTTCCGAAACCCCGTGCAAATTTCCCAGGAGCAG___CTGCTGGCTTTGGAGACAGCCCTGTACTGCACACACATGGACGACCCTTCCCCCAGAGAAATGATCAACAACTTCCGGCAGGTCCAGAAGTTCGATGAGAGGCTGGTATACACCTCCTTCTCCCAAG___TGCAAGTCTGTACTGCGGCAGGACTGAGTCTGG___GCATCATCCTCTCACTGGCCCTGGCTGGCATTCTTGGCATCTGTATTGTGGTGGTGGTGTCCATTTGGCTTTTCAGAAGGAAGAG___)TATCAAAAAAGGTGATAACAAGGGAGTCATTTACAAGCCAGCCACCAAGATGGAGACT|TCAGCCTCCTGAGTAGCTGGGACTATAGATGCATGCCATTGCTCCTGGCTAATTTTAAATTTTTAGTAGAGACCAGGCCTTGCTATGTTGCCTAGGCTGGTCTTGAACTCCTGGG MPRRSLHAAAVLLLVILKEQPSSPAPVNGSKWTYFGPDGENSWSKKYPSCGGLLQSPIDLHSDILQYDASLTPLEFQGYNLSANKQFLLTNNGHSVKLNLPSDMHIQGLQSRYSATQLHLHWGNPNDPHGSEHTVSGQHFAAELHIVHYNSDLYPDASTASNKSEGLAVLAVLIEMGSFNPSYDKIFSHLQHVKYKGQEAFVPGFNIEELLPERTAEYYRYRGSLTTPPCNPTVLWTVFRNPVQISQEQLLALETALYCTHMDDPSPREMINNFRQVQKFDERLVYTSFSQVQVCTAAGLSLGIILSLALAGILGICIVVVVSIWLFRRKSIKKGDNKGVIYKPATKMET|sas* 11BR059 ENSG00000100028.12 ENSG00000178803.12 +/+ -/+ chr22:24557747 chr22:24485724 CDS intron duplication/5'-5' 6 15 0 1345 34 medium out-of-frame . . . . ENSG00000100028.12 ENSG00000178803.12 ENST00000402849.5 . downstream upstream . ^(GACTCACGC)CTTCGCCGTAGCATCTTTCGCAGCGGACCGAAGAGAAGAAAAGTAGGCCAGAGCCG___AACTCTCTTCCTGCCAAGATGTCTATTGGTGTGCCGATTAAAGTACTGCATGAGGCCGAGGGCCACATTGTGACATGTGAGACGAACACCG|CAATATACAGAAATCACAGACTGTAATTCAACTACCCATCTGATGACTGACTATCTTCTACAACACTCCCACCAAGTGGTCATCTGGACtGTACCTGAACACCCTGAATGAGAACTCATCACTTGCAGAGACTGCCTATTTCA-TTTTTTTTATATCACCCAATGAAAATAACTGTATTGGCCTGAAATATCCTCC MSIGVPIKVLHEAEGHIVTCETNT|aiyrnhrl* 11BR059 ENSG00000060688.13 ENSG00000168528.12(17223),ENSG00000215899.3(35686) -/- ./- chr1:31259896 chr1:31451903 3'UTR intergenic duplication 4 9 1 150 24 medium stop-codon . WD_domain__G-beta_repeat(100%)| . . ENSG00000060688.13 . ENST00000263694.9 . upstream downstream duplicates(1) ^(GCGGTCAGTGGCGGCGCTGAAGAGACCGGTTGCCGCCATGATAGAACAGCAGAAGCGTAAGGGCCCAGAGTTGCCGCTGGTTCCAGTCAAGCGGCAGCGGCATGAGTTGCTGTTGGGAGCGGGGTCTGGCCCAGGAGCCGGGCAGCAGCAGGCGACGCCGGGAGCCTTGCTGCAAGCG___GGACCTCCAAGATGTTCCTCCCTTCAAGCCCCAATCATGCTGCTCTCTGGACATGAAGGGGAAGTCTACTGCTGCAAGTTCCACCCCAACGGATCCACCTTAGCATCTGCAGGATTTGACCGACTGATAT___TACTGTGGAATGTCTATGGTGACTGTGATAACTATGCCACACTGAAGGGACACAGTGGAGCAGTGATGGAATTGCATTACAACACAGATGGCAG___TATGCTTTTCTCAGCATCCACAGATAAAACCGTGGCTGTGTGGGATAGTGAAACAGGTGAGAGGGTTAAAAGGCTAAAGGGACATACTTCCTTTGTGAATTCCTGTTATCCAGCCAGGAGAGGCCCTCAGCTTGTCTGCACTGGCAGTGACGATGGCACAGTTAAG___CTTTGGGACATCCGGAAGAAAGCAGCCATCCAGACATTTCAGAACACGTACCAGGTGTTAGCTGTGACCTTCAATGACACAAGTGATCAGATTATTTCTGGTGGAATAGACAATGATATCAAG___GTCTGGGACCTGCGCCAGAACAAGCTAACCTACACCATGAGAGGCCATGCAGATTCAGTGACTGGCCTGAGTTTAAGTTCTGAAGGCTCTTATCTTTTGTCCAATGCAATGGACAATACAG___TTCGTGTCTGGGATGTCCGGCCATTTGCCCCCAAAGAGAGATGTGTAAAGATATTTCAAGGAAATGTGCACAACTTTGAAAAG___AACCTTCTGAGATGTTCTTGGTCACCTGATGGAAGCAAAATAGCAGCTGGCTCAGCCGACAG___GTTTGTTTATGTGTGGGATACCACAAGCA)GGAGAATATTGTATAAGCTGCCCGGCCATGCTGGCTCCATCAATGAAGTGGCTTTCCACCCTGATGAGCCCATCA___TTATCTCAGCATCGAGTGACAAGAGACTGTATATGGGAGAGATTCAGTGAAGATATGGACTGGAAGACTCCAAGGCCGCTTGTCTTTGAGACCTCAGACTGCATAAGTGATGCCAAATGTTGGATGTCCAGGCTAGCACCCTCCCTTCAGATGACCATTGCTAGCAAGAAACAGGAGGCGGTGGCCATATTCCAAAAACCACTTCTGTCCCATTTCACCAGGATGA|AacAAAACAGCATGGTAATGGTATAAAAATAGGCACTTAGACAATAGAACAGAATAGAGAACCCAGAAATAAACCCAAATACTTACAACCAACTGATCTTCAACAAAGCAAACAAAAGCAAAAAGTGAGGAAAGGACCCTCTATTCAACAAATGATGCTGGGATAATTGGCAAGCCAC . 11BR059 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 3 0 187 25 medium out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTT)GGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR059 ENSG00000170871.12 ENSG00000251580.3 +/+ -/+ chr4:6842204 chr4:6648726 CDS/splice-site exon duplication/5'-5' 0 10 0 15 12 medium out-of-frame . Domain_of_unknown_function_(DUF4603)(100%)| . . ENSG00000170871.12 ENSG00000251580.3 ENST00000425103.5 . downstream upstream . ^(ACGTAAGGCGCAGGCCAGGGCCGCCCGGCGCTCGGCAGCCGCCCGCAGCCCCTCGGAGCCAGAGGAGAGGCGCCCCCGCCGGCCGCCGCGCCGCCCGGCAGCCTCGGCAG___GTTCTGCCGGAGACTTCCATTTGGCCTCAATGTGAAATTAAAGTAGAAAATCACATCTACATGCATGTTGCTATCAGGATGTTGATTCATTAGTCATGCCTGAAGAGGGAAAGTCTGTTTTAGGTGGCTGACTACCAGCAAAAATAAATGCTTATCCTACATGTCAAGCATCTCTACTTTTTACTGGAGTGAAAATCCCCTCCAGATACCAACAGAATATCAACTGCAGAAAATGCTTCACATTTTAAGGATGTCGGCAACCTAAATTCATGTACCCTATCTGTACAGTTGTTGTGGATGGTTTGCCATCTGAAAGCTCCTCAAGTTCTTATCCAGGCCCTGTGTCTGTTTCTGAAATGTCTCTGCTTCATGCTTTGGGTCCAGTGCAGACCTGGCTGGGACAAGAGCTCGAGAAATGTGGCATTGATGCCATGATTTACACTCGGTATGTCCTCAGTCTTCTGCTGCATGACAGCTATGACTACGACCTGCAGGAACAG___GAGAATGACATCTTCCTGGGCTGGGAAAAAGGAGCTTATAAGAAATGGGGAA)AGAGTAAGAAAAAATGTTCAGATCTAACTCTAGAAGAAATGAAAAAACAGGCTGCTGTCCAGTGTCTTCGATCTGCTTCTGATGAA|AGAGATACGGTTTCCCTACGTTGCCCAGGCTGGTCTCAGACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGTCTCCCAAAGTCATCCGAAGGTTTTGAAGGAAATATATGGCC MYPICTVVVDGLPSESSSSSYPGPVSVSEMSLLHALGPVQTWLGQELEKCGIDAMIYTRYVLSLLLHDSYDYDLQEQENDIFLGWEKGAYKKWGKSKKKCSDLTLEEMKKQAAVQCLRSASDE|rdtvslrcpgwsqtpglkqssclslpkssegfegniw 11BR059 ENSG00000134709.12 ENSG00000237352.4 +/+ +/+ chr1:59848402 chr1:59072433 CDS intron duplication 4 5 0 68 9 medium out-of-frame . HOOK_protein(100%)| . . ENSG00000134709.12 ENSG00000237352.4 ENST00000371208.5 . downstream upstream duplicates(1) ^(GTGACGCCGGACGCGTCGACAGCGCGAGGGTTCGCGCGTGAGCTGCGCGGGTCGGGCCTGGTACCGAGCTTTCCTGGGGGCTAGCAGGTCGTGGACGCCGGCTCCTGGAGGAGAGCCGGTAGGAGGGAGTGTGAAGGTGTCCGCGGCGTCGTCGACGGCGGCGCCGGCCATGGAGGAGACGCAGCCGCCGCCGCAGCCTAAGCTGCCCCTGTGCGACAGCCTCATGATCTGG___CTGCAGACATTCAATACTGCCTCACCTTGTCAAGATGTCAAACAGCTGACTAGTGGAGTTGCCATGGCACAAGTTCTTCATCAAAT___TGATGCAGCTTGGTTTAACGAATCTTGGTTAAGCCGAATTAAAGAGGATGTTGGGGACAACTGGAGAATAAAG___GCCAGTAATGTAAAGAAGGTCCTTCAAGGAATTATGAGTTATTATCATGAG___TTTTTGGGGCAGCAGATTTCAGAAGCACTTATCCCTGATTTAAACCAAATAACCGAATGTTCAGATCCAGTGGAGCTTGGGAGGTTGCTCCAGCTTATTTTAGGTTGTGCGATCAACTGTGAAAAGAAGCAAG___AACATATTCAAAATATAATGACACTGGAAGAGTCTGTTCAACATGTGGTCATGACTGCTATTCAAGAG___TTGATGAGTAAAGAAATATTGAGCTCTCCTCCAAATGATGCTGTTGGAGAATTGGAGCAACAG___CTTAAAAGAGCCTTGGAAGAACTTCAGGAAGCACTAGCAGAAAAAGAAGAGCTGAGGCAAAGATGTGAAGAATTGGATATGCAG___GTGACTACACTTCAAGATGAAAAGAATTCACTGGTTTCTGAAAATGAGATGATGAATGAAAAACTTGACCAGTTGGATGGCTCTTTTGATGATCCAAACACAGTGGTTGCAAAAAAGTATTTTCATGCACAATTACAACTAGAACAATTACAGGAAGAAAACTTCAG___GCTTGAAGCTGCAAA)AGATGATTACCGTGgTCACTGTGAAGAACTTGAAAAGCAGCTAATCGAATTCCAGCATAGGAATGATGAATTGACTAGTCTTGCAGAAGAAACAAGAGCCCTGAAAGATGAAATAGATGTTCTTAG___GGCTACCTCTGATAAAGCAAATAAACTGGAGTCAACAGTTGAGATATATCGTCAGAAGCTACAAGATCTGAATGACCTTCGCAAGCAG|GTGCCTCTGACTCATGACTTCCTCTCTCATAAGTGTTCCTCGAAGTTTCCTCCCTACACGTTTACTTGCCTCCATGTCGTCTCTCCAAAACCAGAATCTTCACAGGGTCAGGAAGAAAGCACTCAACACAATATCCA MEETQPPPQPKLPLCDSLMIWLQTFNTASPCQDVKQLTSGVAMAQVLHQIDAAWFNESWLSRIKEDVGDNWRIKASNVKKVLQGIMSYYHEFLGQQISEALIPDLNQITECSDPVELGRLLQLILGCAINCEKKQEHIQNIMTLEESVQHVVMTAIQELMSKEILSSPPNDAVGELEQQLKRALEELQEALAEKEELRQRCEELDMQVTTLQDEKNSLVSENEMMNEKLDQLDGSFDDPNTVVAKKYFHAQLQLEQLQEENFRLEAAKDDYRgHCEELEKQLIEFQHRNDELTSLAEETRALKDEIDVLRATSDKANKLESTVEIYRQKLQDLNDLRKQ|vplthdflshkcsskfppytftclhvvspkpessqgqeestqhni 11BR059 ENSG00000134709.12 ENSG00000235215.2 +/+ -/+ chr1:59848402 chr1:59072433 CDS intron duplication/5'-5' 4 5 0 68 9 medium out-of-frame . HOOK_protein(100%)| . . ENSG00000134709.12 ENSG00000235215.2 ENST00000371208.5 . downstream upstream duplicates(1) ^(GTGACGCCGGACGCGTCGACAGCGCGAGGGTTCGCGCGTGAGCTGCGCGGGTCGGGCCTGGTACCGAGCTTTCCTGGGGGCTAGCAGGTCGTGGACGCCGGCTCCTGGAGGAGAGCCGGTAGGAGGGAGTGTGAAGGTGTCCGCGGCGTCGTCGACGGCGGCGCCGGCCATGGAGGAGACGCAGCCGCCGCCGCAGCCTAAGCTGCCCCTGTGCGACAGCCTCATGATCTGG___CTGCAGACATTCAATACTGCCTCACCTTGTCAAGATGTCAAACAGCTGACTAGTGGAGTTGCCATGGCACAAGTTCTTCATCAAAT___TGATGCAGCTTGGTTTAACGAATCTTGGTTAAGCCGAATTAAAGAGGATGTTGGGGACAACTGGAGAATAAAG___GCCAGTAATGTAAAGAAGGTCCTTCAAGGAATTATGAGTTATTATCATGAG___TTTTTGGGGCAGCAGATTTCAGAAGCACTTATCCCTGATTTAAACCAAATAACCGAATGTTCAGATCCAGTGGAGCTTGGGAGGTTGCTCCAGCTTATTTTAGGTTGTGCGATCAACTGTGAAAAGAAGCAAG___AACATATTCAAAATATAATGACACTGGAAGAGTCTGTTCAACATGTGGTCATGACTGCTATTCAAGAG___TTGATGAGTAAAGAAATATTGAGCTCTCCTCCAAATGATGCTGTTGGAGAATTGGAGCAACAG___CTTAAAAGAGCCTTGGAAGAACTTCAGGAAGCACTAGCAGAAAAAGAAGAGCTGAGGCAAAGATGTGAAGAATTGGATATGCAG___GTGACTACACTTCAAGATGAAAAGAATTCACTGGTTTCTGAAAATGAGATGATGAATGAAAAACTTGACCAGTTGGATGGCTCTTTTGATGATCCAAACACAGTGGTTGCAAAAAAGTATTTTCATGCACAATTACAACTAGAACAATTACAGGAAGAAAACTTCAG___GCTTGAAGCTGCAAA)AGATGATTACCGTGgTCACTGTGAAGAACTTGAAAAGCAGCTAATCGAATTCCAGCATAGGAATGATGAATTGACTAGTCTTGCAGAAGAAACAAGAGCCCTGAAAGATGAAATAGATGTTCTTAG___GGCTACCTCTGATAAAGCAAATAAACTGGAGTCAACAGTTGAGATATATCGTCAGAAGCTACAAGATCTGAATGACCTTCGCAAGCAG|GTGCCTCTGACTCATGACTTCCTCTCTCATAAGTGTTCCTCGAAGTTTCCTCCCTACACGTTTACTTGCCTCCATGTCGTCTCTCCAAAACCAGAATCTTCACAGGGTCAGGAAGAAAGCACTCAACACAATATCCA MEETQPPPQPKLPLCDSLMIWLQTFNTASPCQDVKQLTSGVAMAQVLHQIDAAWFNESWLSRIKEDVGDNWRIKASNVKKVLQGIMSYYHEFLGQQISEALIPDLNQITECSDPVELGRLLQLILGCAINCEKKQEHIQNIMTLEESVQHVVMTAIQELMSKEILSSPPNDAVGELEQQLKRALEELQEALAEKEELRQRCEELDMQVTTLQDEKNSLVSENEMMNEKLDQLDGSFDDPNTVVAKKYFHAQLQLEQLQEENFRLEAAKDDYRgHCEELEKQLIEFQHRNDELTSLAEETRALKDEIDVLRATSDKANKLESTVEIYRQKLQDLNDLRKQ|vplthdflshkcsskfppytftclhvvspkpessqgqeestqhni 11BR059 ENSG00000148773.14 ENSG00000236303.4 -/- +/- chr10:128115640 chr10:130219002 CDS intron duplication/5'-5' 5 4 0 17 8 medium out-of-frame . FHA_domain(100%)| . . ENSG00000148773.14 ENSG00000236303.4 ENST00000368654.8 . upstream downstream . ^(AGAAGGAAGTGGAGGGCTGACGCTGCGGGCGGGCGGGCGGGCGGGAGGACTCGACTCGGTGGGAGCCGCTAGAGCCGGGCGCCCGGGGACGTAGCCTGTAGGGCCACCGGGTCCCCGTCAGAGGCGGCGGCGGGAGCAGCGGGGACTGCAGGCCGGGGTGCAGCGAACGCGACCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGCGCGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGTGCGACTTGACGAGCGGTGGTTCGACAAGTGGCCTTGCGGGCCGGATCGTCCCAG___TGGAAGAGTTGTAAATTTGCTTCTGGCCTTCCCCTACGGATTATACCTGGCCTTCCCCTACGGATTATACTCAACTTACTGTTTAGAAAATGTGGCCCACGAGACGCCTGGTTACTATCAAAAGGAGCGGGGTCGACGGTCCCCACTTTCCCCTGAGCCTCAGCACCTGCTTGTTTGGAAG___GGGTATTGAATGTGACATCCGTATCCAGCTTCCTGTTGTGTCAAAACAACATTGCAAAATTGAAATCCATGAGCAGGAG___GCAATATTACATAATTTCAGTTCCACAAATCCAACACAAGTAAATGGGTCTGTTATTGATGAGCCTGTACGGCTAAAACATGGAGATGTAATAACTATTATTGATCGTTCCTTCAG___GTATGAAAATGAAAGTCTTCAGAATGGAAGGAAGTCAACTGAATTTCCAAGAAAAATACGTGAACAG___GAGCCAGCACGTCGTGTCTCAAGATCTAGCTTCTCTTCTGACCCTG___ATGAGAAAGCTCAAGATTCCAAGGCCTATTCAAAAATCACTGAAGGAAAAGTTTCAGGAAATCCTCAGGTACATATCAAGAATGTCAAAGAAGACAGTACCGCAGATGACTCAAAAGACAGTGTTGCTCAGGGAACAACTAATGTTCATTCCTCAGAACATGCTGGACGTAATGGCAGAAATGCAGCTGATCCCATTTCTGGGGATTTTAAAGAAATTTCCAGCGTTAAATTAGTGAGCCGTTAT)GGAGAATTGAAGTCTGTTCCCACTACACAATGTCTTGACAATAGCAAAAAAAATGAATCTCCCTTTTGGAAGCTTTATGAGTCAGTGAAGAAAGAGTTGGATGTAAAATCACAAAAAGAAAAT|ACCCCACATGGGCCTCAGCTTTCCCATCAGCAAAACTTAGCGCTTGGGTCAAATCATTTCTGAAGTCCCGTCCAGCCTTCCCATTCCTGTCGGCCAGATCTAGTAGGATCTGGTTTTGTCTCTGCGTCTACCTTGGC MWPTRRLVTIKRSGVDGPHFPLSLSTCLFGRGIECDIRIQLPVVSKQHCKIEIHEQEAILHNFSSTNPTQVNGSVIDEPVRLKHGDVITIIDRSFRYENESLQNGRKSTEFPRKIREQEPARRVSRSSFSSDPDEKAQDSKAYSKITEGKVSGNPQVHIKNVKEDSTADDSKDSVAQGTTNVHSSEHAGRNGRNAADPISGDFKEISSVKLVSRYGELKSVPTTQCLDNSKKNESPFWKLYESVKKELDVKSQKEN|tphgpqlshqqnlalgsnhf* 11BR059 ENSG00000196208.14 ENSG00000169016.17 +/+ -/+ chr2:11593030 chr2:11445662 CDS 3'UTR duplication/5'-5' 3 4 0 60 45 medium out-of-frame . . . . ENSG00000196208.14 ENSG00000169016.17 ENST00000381486.7 . downstream upstream . ^(GCTAAATGGTTAAGAGATACATAAATACTGCAGTAGAGATGGGATTTTACCTCAAAGTGCAAAGGTAAATGAAATAAAGTTTTTTCAATGGAAGGCTTGCAGCTCTTGAGGACCTGCCAAATGGAAGAAGGACAGAGACCTGGAGCCCTATGGAAAGTTCTGACACCATGTGTGGAAGGACATGGCTTTTAACACGTGTGGTGACTGGAG___TAGCTGCAGCTGAGGACAGCCACCCTTTCTTCGTCTCTGCTGAGCGAAGGCTACACGGCCCTTCCTCCTTGCAGCTGTTTCACCTTCTACCTTGCGTGGAGCCAGGCTTTTGCACCGAATCTGAGATGCCATTTTAAACAGAAGACTCCATCCTCTTGAAGATGGGAAATTCTTACGCTGGACAGCTGAAGACGACACGCTTTGAAGAGGTCTTGCACAATTCCATCGAGGCATCCCTGCGGTCCAACAACCTGGTGCCCAGGCCCATCTTTTCCCAGCTGTACCTGGAAGCTGAGCAGCAGCTTGCCGCTCTAGAAG___GTGGTAGCCGAGTGGACAATGAGGAAGAGGAAGAAGAGGGAGAAGGAGGGCTGGAAACAAATGGCCCCCCAAACCCTTTCCAGCTGCACCCTCTGCCTGAAGGATGCTGTACCACAGACG___GGTTTTGCCAGGCCGGGAAGGACCTGCGCCTTGTCTCCATTTCCAACGAGCCCATGGATGTCCCTGCGGGCTTTCTCCTCGTGGGGGTCAAGTCCCCCAGCCTGCCGGACCATCTCCTGGTGTGCGCCGTTGACAAGAGGTTCTTGCCAGATGACAATGGCCACAATGCTCTTCTTG___GTTTCTCTGGGAATTGTGTTGGCTGTGGAAAGAAAGGCTTCTGTTACTTCACGGAATTCTCCAATCATATAAATCTGAAACTGACCACTCAACCCAAGAAGCAGAAACACTTGAAGTATTACCTGGTCCGTAATGCACAAGGGACTCTAACCAAAGGACCTTTAATCTGTTGGAAAGGCTCAG___AGTTTAGAAGCCGGCAGATCCCCGCCAGTACTTGTTCCAGTTCCCTCTTCCCAGCCCTGGAGAGCACGGCTGCCTTCCCCAGCGAGCCCGTTCCTGGGACGAACCCCAGCATCCTGATGGGAGCTCAGCAGGCAG___GACCAGCTTCTGATCACCCCTCACTAAACGCAGCAATGGGTCCGGCTGTTTTCAACGGCAAAGATTCCCCGAAGTGCCAACAACTGGCAAAGAATAACCTGTTGGCCCTGCCGCGACCATCGGCTTTAG___GTATCTTGTCAAACTCCGGGCCCCCCAAAAAACGCCACAAAGGGTGGTCTCCAGAATCTCCATCAGCTCCAGATGGTGGCTGCCCCCAAGGTGGTGGGAACAGAGCTAAGTATG___AGAGCGCAGGCATGTCCTGCGTGCCGCAGGTTGGCTTGGTGGGACCAGCTTCAGTCACCTTTCCAGTGGTGGCCTCTGGAGAACCAGTGTCTGTTCCTGACAACTTGCTGAAAATATGCAAGGCCAAGCCAGTGATATTTAAAG___GCCATGGGAACTTCCCTTACCTCTGTGGGAACCTGAATGACGTCGTGGTCAGCCCCCTCTTGTACACGTGCTACCAGAATTCCCAGTCTGTCTCACGGGCATACGAGCAGTACGGCGCCTCTGCCATCCAGCCCATCTCCGAGGAGATGCAGCTCCTGCTTACCGTCTACTACCTGGTCCAGCTGG___CCGCGGACCAGGTGCCCTTGATGGAGGACCTGGAGCAGATCTTCCTGCGCTCTTGGCGCGAGTCGCACCTGACCGAGATCCGGCAGTACCAGCAGGCGCC)GCCGCAGCCCTTCCCGCCCGCGCCCAGCGCCGCGGCACCCGTGACCTCCGCGCAGCTGCCCTGGCTGGCCAGCCTGGCCGCCAGCTCCTGCAACGACAGCGTGCACGTCATCGAGTGTGCTTACTCCCTGGCCGAGGGCCTCTCCGAGATGTTCC|TGATGGCATTTCTATCCTTGCCCCCAAAGCCACTGGGCATGCCACCAGTCTGCTGGGAGACAGCAATTAGGTAGACAGCTTAAAACCAAGAAGTATCTGACTCCAATTTTAGCACTGAAAACCATATTAAAATACTTTAATTAAATCCAC MGNSYAGQLKTTRFEEVLHNSIEASLRSNNLVPRPIFSQLYLEAEQQLAALEGGSRVDNEEEEEEGEGGLETNGPPNPFQLHPLPEGCCTTDGFCQAGKDLRLVSISNEPMDVPAGFLLVGVKSPSLPDHLLVCAVDKRFLPDDNGHNALLGFSGNCVGCGKKGFCYFTEFSNHINLKLTTQPKKQKHLKYYLVRNAQGTLTKGPLICWKGSEFRSRQIPASTCSSSLFPALESTAAFPSEPVPGTNPSILMGAQQAGPASDHPSLNAAMGPAVFNGKDSPKCQQLAKNNLLALPRPSALGILSNSGPPKKRHKGWSPESPSAPDGGCPQGGGNRAKYESAGMSCVPQVGLVGPASVTFPVVASGEPVSVPDNLLKICKAKPVIFKGHGNFPYLCGNLNDVVVSPLLYTCYQNSQSVSRAYEQYGASAIQPISEEMQLLLTVYYLVQLAADQVPLMEDLEQIFLRSWRESHLTEIRQYQQAPPQPFPPAPSAAAPVTSAQLPWLASLAASSCNDSVHVIECAYSLAEGLSEMF|lmaflslppkplgmppvcwetair* 11BR059 ENSG00000142192.21 ENSG00000280441.3 -/- +/+ chr21:25982344 chr21:8450147 CDS/splice-site exon/splice-site inversion 1 4 1 1495 109 medium out-of-frame . Amyloid_A4_N-terminal_heparin-binding(100%),Copper-binding_of_amyloid_precursor__CuBD(100%),E2_domain_of_amyloid_precursor_protein(100%),Kunitz/Bovine_pancreatic_trypsin_inhibitor_domain(100%)| . . ENSG00000142192.21 ENSG00000280441.3 ENST00000346798.8 ENST00000651813.1 upstream upstream duplicates(1) ^(GTCAGTTTCCTCGGCAGCGGTAGGCGAGAGCACGCGGAGGAGCGTGCGCGGGGGCCCCGGGAGACGGCGGCGGTGGCGGCGCGGGCAGAGCAAGGACGCGGCGGATCCCACTCGCACAGCAGCGCACTCGGTGCCCCGCGCAGGGTCGCGATGCTGCCCGGTTTGGCACTGCTCCTGCTGGCCGCCTGGACGGCTCGGGCGCTGGAG___GTACCCACTGATGGTAATGCTGGCCTGCTGGCTGAACCCCAGATTGCCATGTTCTGTGGCAGACTGAACATGCACATGAATGTCCAGAATGGGAAGTGGGATTCAGATCCATCAGGGACCAAAACCTGCATTGATACCAAGGAAGGCATCCTGCAGTATTGCCAAGAA___GTCTACCCTGAACTGCAGATCACCAATGTGGTAGAAGCCAACCAACCAGTGACCATCCAGAACTGGTGCAAGCGGGGCCGCAAGCAGTGCAAGACCCATCCCCACTTTGTGATTCCCTACCGCTGCTTAG___TTGGTGAGTTTGTAAGTGATGCCCTTCTCGTTCCTGACAAGTGCAAATTCTTACACCAGGAGAGGATGGATGTTTGCGAAACTCATCTTCACTGGCACACCGTCGCCAAAGAG___ACATGCAGTGAGAAGAGTACCAACTTGCATGACTACGGCATGTTGCTGCCCTGCGGAATTGACAAGTTCCGAGGGGTAGAGTTTGTGTGTTGCCCACTGGCTGAAGAAAGTGACAATGTGGATTCTGCTGATGCGGAGGAGGATGACTCGGATGTCTGGTGGGGCGGAGCAGACACAGACTATGCAGATGGGAG___TGAAGACAAAGTAGTAGAAGTAGCAGAGGAGGAAGAAGTGGCTGAGGTGGAAGAAGAAGAAGCCGATGATGACGAGGACGATGAGGATGGTGATGAGGTAGAGGAAGAGGCTGAGGAACCCTACGAAGAAGCCACAGAGAGAACCACCAGCATTGCCACCACCACCACCACCACCACAGAGTCTGTGGAAGAGGTGGTTCGAG___AGGTGTGCTCTGAACAAGCCGAGACGGGGCCGTGCCGAGCAATGATCTCCCGCTGGTACTTTGATGTGACTGAAGGGAAGTGTGCCCCATTCTTTTACGGCGGATGT)GGCGGCAACCGGAACAACTTTGACACAGcAGAGTACTGCATGGCCGTGTGTGGCAGCGCCA___TGTCCCAAAGTTTACTCAAGACTACCCAGGAACCTCTTGCCCGAGATCCTGTTAAAC___TTCCTACAACAGCAGCCAGTACCCCTGATGCCGTTGACAAGTATCTCGAGACACCTGGGGATGAGAATGAACATGCCCATTTCCAGAAAGCCAAAGAGAGGCTTGAGGCCAAGCACCGAGAGAGAATGTCCCAG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGATGAGCCATCGTGCCCGGCTAATTTTTCTATTTTTACTACAGATGGG(GTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGACCGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ MLPGLALLLLAAWTARALEVPTDGNAGLLAEPQIAMFCGRLNMHMNVQNGKWDSDPSGTKTCIDTKEGILQYCQEVYPELQITNVVEANQPVTIQNWCKRGRKQCKTHPHFVIPYRCLVGEFVSDALLVPDKCKFLHQERMDVCETHLHWHTVAKETCSEKSTNLHDYGMLLPCGIDKFRGVEFVCCPLAEESDNVDSADAEEDDSDVWWGGADTDYADGSEDKVVEVAEEEEVAEVEEEEADDDEDDEDGDEVEEEAEEPYEEATERTTSIATTTTTTTESVEEVVREVCSEQAETGPCRAMISRWYFDVTEGKCAPFFYGGCGGNRNNFDTaEYCMAVCGSAMSQSLLKTTQEPLARDPVKLPTTAASTPDAVDKYLETPGDENEHAHFQKAKERLEAKHRERMSQ|asshvsr* 11BR059 ENSG00000157540.21 ENSG00000214955.5 +/+ +/+ chr21:37367628 chr21:34293681 5'UTR/splice-site exon/splice-site duplication 0 4 0 18 44 medium . . . . . ENSG00000157540.21 ENSG00000214955.5 ENST00000647188.2 ENST00000427022.1 downstream upstream duplicates(1) ^(GACCGGGTCGGTCCGTCGCCATTTTGTTGGTTGGTTTTTTTTTAAACCCTTTCGCTTCCCGCCCGAATAATAATAAAAAGCCCCATTGGAGTGAGGCGGGGGTGGCGGCGGCAACCGCGGCGGGGGTATCCGGGGAGACTGCTGCTGTCGCTGCTGCTGATCGCGGCCCAGGTCGGCCTCAGAGAGCGGACACCCCGAGCGGGGGGTGCGGGCGCCGCCGCCGCCGCTTCTGCTGCTGCTGTTCCTGCTGCTGCTGTTGGTGCCGCTGCCGCCGCCGGCGAGCAGGCGGGACCGGTGTGAGTGCGAGTGTGTGTGCGAGGGAGCGTGTGCGAGGGCGATTGTGCGCGCGAGTGTGCGGGTGTGTGCGAGTGTCTGTCTGTCTGTGCGGGGACTCGGGGGCGGGCGGTTCGGGCTCTCCTGGCGGAGGAGCCGCCGCCGCCGCCCGGGCCCCGGCGCTTCTCGCTGCGCAGGTTCGGAGCGCGCGCCATTTTGTGAGATTTACAAAATCCTCCTCGGGAAGAAGCCGCCGGCAGCAGCCGCCGCTCGGCGCCCGGCCTCGCCGACGCCGCCCTCTGCGCCGGGCCGGCCGTGCGGCCCCGCCGCCTGGAATCGGGGCCCGGGGACTGCGGTATTTGCCGGGGAGGGGGCTGTCGCCTCCCCGGCCCCGGGCGCCGCTGGAACCGCGAGCCGAGGAGAGACTGAGCAGGCTGCGGCGCGGCCAGGAGCCGGAGCGCCGGGGGCGGAGAGAGGCTGCCGGGGCGGCGCTGGCTGCGGAGGCCGCGGC)GGGAGCGCGGCGCGGGAGCCCGAGGCTGAGACTCACCGGAGGAAGCGGCGCGAGCGCCCCGCCATCGTCCCG|GCTGCAAGCATCAGGACAGCAGAGACCAAATTCATCATTGAATCCTCAACATCTAGCACAATATGCCTGGCATAAG . 11BR059 ENSG00000157540.21 ENSG00000272657.1 +/+ +/+ chr21:37367628 chr21:34293681 5'UTR/splice-site exon/splice-site duplication 0 4 0 18 44 medium . . . . . ENSG00000157540.21 ENSG00000272657.1 ENST00000647188.2 ENST00000362077.4 downstream upstream duplicates(1) ^(GACCGGGTCGGTCCGTCGCCATTTTGTTGGTTGGTTTTTTTTTAAACCCTTTCGCTTCCCGCCCGAATAATAATAAAAAGCCCCATTGGAGTGAGGCGGGGGTGGCGGCGGCAACCGCGGCGGGGGTATCCGGGGAGACTGCTGCTGTCGCTGCTGCTGATCGCGGCCCAGGTCGGCCTCAGAGAGCGGACACCCCGAGCGGGGGGTGCGGGCGCCGCCGCCGCCGCTTCTGCTGCTGCTGTTCCTGCTGCTGCTGTTGGTGCCGCTGCCGCCGCCGGCGAGCAGGCGGGACCGGTGTGAGTGCGAGTGTGTGTGCGAGGGAGCGTGTGCGAGGGCGATTGTGCGCGCGAGTGTGCGGGTGTGTGCGAGTGTCTGTCTGTCTGTGCGGGGACTCGGGGGCGGGCGGTTCGGGCTCTCCTGGCGGAGGAGCCGCCGCCGCCGCCCGGGCCCCGGCGCTTCTCGCTGCGCAGGTTCGGAGCGCGCGCCATTTTGTGAGATTTACAAAATCCTCCTCGGGAAGAAGCCGCCGGCAGCAGCCGCCGCTCGGCGCCCGGCCTCGCCGACGCCGCCCTCTGCGCCGGGCCGGCCGTGCGGCCCCGCCGCCTGGAATCGGGGCCCGGGGACTGCGGTATTTGCCGGGGAGGGGGCTGTCGCCTCCCCGGCCCCGGGCGCCGCTGGAACCGCGAGCCGAGGAGAGACTGAGCAGGCTGCGGCGCGGCCAGGAGCCGGAGCGCCGGGGGCGGAGAGAGGCTGCCGGGGCGGCGCTGGCTGCGGAGGCCGCGGC)GGGAGCGCGGCGCGGGAGCCCGAGGCTGAGACTCACCGGAGGAAGCGGCGCGAGCGCCCCGCCATCGTCCCG|GCTGCAAGCATCAGGACAGCAGAGACCAAATTCATCATTGAATCCTCAACATCTAGCACAATATGCCTGGCATAAG___TACTCATCAGAACAACACAAAGATGCAATCAGAACAAGCTGTACTTCCCTCCCGACCCTTCGCTCTCCCTCACCCAG___ATATATCAAGGTGTACAGAC(TATATTTTTGCTGATTTATAATTCAACTGCATTGTAGTAATGGAACCCAGTCTACATAAAGCTGATATTTAAAAATTTGGTTGGACTTCTTTTGTGACCCAGCACATG)$ . 11BR059 ENSG00000074410.14 ENSG00000259316.11 -/- -/- chr15:63326300 chr15:64369263 CDS intron duplication 1 3 0 203 8 medium out-of-frame . Eukaryotic-type_carbonic_anhydrase(100%)| . . ENSG00000074410.14 ENSG00000259316.11 ENST00000178638.8 . upstream downstream . ^(GAAGGGCGGACGTACTCGCCACGGCACCCAGGCTGCGCGCACGCGGTCCCGGTGTGCAGCTGGAGAGCGAGCGGCCACCGGGAGCCCCCGGCACAGCCCGCGCCCGCCCCGCAGGAGCCCGCGAAGATGCCCCGGCGCAGCCTGCACGCGGCGGCCGTGCTCCTGCTGGTGATCTTAAAGGAACAGCCTTCCAGCCCGGCCCCAGTGAACG___GTTCCAAGTGGACTTATTTTG___GTCCTGATGGGGAGAATAGCTGGTCCAAGAAGTACCCGTCGTGTGGGGGCCTGCTGCAGTCCCCCATAGACCTGCACAGTGACATCCTCCAGTATGACGCCAGCCTCACGCCCCTCGAGTTCCAAGGCTACAATCTGTCTGCCAACAAGCAGTTTCTCCTGACCAACAATGGCCATTCAG___TGAAGCTGAACCTGCCCTCGGACATGCACATCCAGGGCCTCCAGTCTCGCTACAGTGCCACGCAGCTGCACCTGCACTGGGGGAACCCGAATGACCCGCACGGCTCTGAGCACACCGTCAGCGGACAGCACTTCGCCGCCGAG___CTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAG___ATGGGCTCCTTCAATCCGTCCTATGACAAGATCTTCAGTCACCTTCAACATGTAAAGTACAAAG___GCCAGGAAGCATTCGTCCCGGGATTCAACATTGAAGAGCTGCTTCCGGAGAGGACCGCTGAATATTACCGCTACCGGGGGTCCCTGACCACACCCCCTTGCAACCCCACTGTGCTCTGGACAGTTTTCCGAAACCCCGTGCAAATTTCCCAGGAGCAG___CTGCTGGCTTTGGAGACAGCCCTGTACTGCACACACATGGACGACCCTTCCCCCAGAGAAATGATCAACAACTTCCGGCAGGTCCAGAAGTTCGATGAGAGGCTGGTATACACCTCCTTCTCCCAAG___TGCAAGTCTGTACTGCGGCAGGACTGAGTCTGG___GCATCATCCTCTCACTGGCCCTGGCTGGCATTCTTGGCATCTGTATTGTGGTGGTGGTGTCCATTTGGCTTTTCAGAAGGAAGAG___)TATCAAAAAAGGTGATAACAAGGGAGTCATTTACAAGCCAGCCACCAAGATGGAGACT|TCAGCCTCCTGAGTAGCTGGGACTATAGATGCATGCCATTGCTCCTGGCTAATTTTAAATTTTTAGTAGAGACCAGGCCTTGCTATGTTGCCTAGGCTGGTCTTGAACTCCTGGG MPRRSLHAAAVLLLVILKEQPSSPAPVNGSKWTYFGPDGENSWSKKYPSCGGLLQSPIDLHSDILQYDASLTPLEFQGYNLSANKQFLLTNNGHSVKLNLPSDMHIQGLQSRYSATQLHLHWGNPNDPHGSEHTVSGQHFAAELHIVHYNSDLYPDASTASNKSEGLAVLAVLIEMGSFNPSYDKIFSHLQHVKYKGQEAFVPGFNIEELLPERTAEYYRYRGSLTTPPCNPTVLWTVFRNPVQISQEQLLALETALYCTHMDDPSPREMINNFRQVQKFDERLVYTSFSQVQVCTAAGLSLGIILSLALAGILGICIVVVVSIWLFRRKSIKKGDNKGVIYKPATKMET|sas* 11BR059 ENSG00000186625.14 ENSG00000164303.11(22645),ENSG00000240159.1(13991) -/- ./+ chr6:149623103 chr4:184240518 CDS/splice-site intergenic translocation 4 0 0 472 6 medium out-of-frame . . . . ENSG00000186625.14 . ENST00000335643.12 . upstream upstream . ^(GGGCGACGCCCCGCGTGCGCCAGAGTCGCCGAGGTCGTCCCCGGCACCGGAAGTGACCCTGGCGGGTTTGTCTTCAAATTCTCGGCGAGCAGGAGCCGCGCCGGCAGGTGGTGTTGACGATTGAACTGGGCAGTACTGGGGCCGTGAGCGGAGAGCAAAGTGGGCTGGACTGGGTCAGGCCCTCCTTCCTCGCTGCCGGGATCTCCACTCCGCCAATCCCCTGTGCCTGGCGTTGGGCGGTTTCCCGAGGAGCTTGGGCCGCCGCAG___CTTACAGTTGAACATGAGTCTTCTTATGATTAGTGAGAATGTAAAATTGGCTCGTGAATATGCATTGCTGGGAAACTATGACTCTGCGATGGTCTATTATCAGGGAGTTCTTGACCAAATGAACAAGTATCTGTACTCAGTCAAAGATACATACCTCCAGCAGAAATGGCAACAG___GTTTGGCAGGAAATAAATGTGGAAGCTAAACATGTTAAAGATATCATGAAAACACTAGAGAGCTTTAAACTGGACAGCACTCCCTTGAAAGCGGCACAGCATGACCTTCCAGCTTCTGAGGGAGAAGTCTGGTCCATGCCTGTACCTGTTGAACGAAG___ACCCTCACCAGGACCTA)GAAAACGCCAATCTTCTCAGTACAGTGACCCTAAATCACATGGTAATCGTCCAAGTACAACTGTCAGAGTTCACCGTTCATCTGCACAGAATGTTCACAATGACAGAGGGAAAGCTGTTCGTTGTCGTGAAAAGAAAGAACAGAATAAAGGAAGAGAGGAAAAG|GGCCCAGAACGTGATTTATCTTGCTGAATGTTCTATGTAACCTTGAGAAGAATGGACATTCTGCTGGTGTTGGATGAAGTAGCC MSLLMISENVKLAREYALLGNYDSAMVYYQGVLDQMNKYLYSVKDTYLQQKWQQVWQEINVEAKHVKDIMKTLESFKLDSTPLKAAQHDLPASEGEVWSMPVPVERRPSPGPRKRQSSQYSDPKSHGNRPSTTVRVHRSSAQNVHNDRGKAVRCREKKEQNKGREEK|gperdlsc* 11BR059 ENSG00000100284.21 ENSG00000273068.1 +/+ +/+ chr22:35299980 chr22:35122661 CDS/splice-site exon duplication 0 4 0 100 7 medium out-of-frame . VHS_domain(100%)| . . ENSG00000100284.21 ENSG00000273068.1 ENST00000411850.5 ENST00000610215.1 downstream upstream . ^(TTCGCGGTGCCACCGCCCCGCCCACGCCTCCTCGCCGGCCTCCGAGTGCGTCACGTGACGGGTCGGTGGCGCTGGCGGTTGCTGTCAGCTGATTCCCGGGGTTGGTGGCAGCGGCGGTAGCAGCAAT)GGACTTTCTCCTGGGGAACCCGTTCAGCTCTCCAGTGGGACAGCGCATCG|CAACACTCTGTGGCATTCCCATTTTACATTTGGGAATCTTTGTATCATCCCCATTTCACAGATGGTAAAACCTAAGGCTGAAAGAT___GTGAGGAAACCGAAACTCTGAGAGGTCGCCTAAGTGGGGGGGATGAAAACCAGCGCTCTGACCACATCCTGG(CCTTCGTCACCATGGGATTCCGAGGGACAAGCCCAGGGGAGTTGCAGCATCCTCTGTCTACCCTATGTACGTGACCCCCCTTTGCGGTTTTTAAACCCCACTGCTTGCTGACAGATTTGTCACCTGTTATAAGGGCAGAATCCATTATTATTATCAATAGTAGTGATGGATACTTAAATAATAAATGCACTAATCTCATTAAGCCA)$ MDFLLGNPFSSPVGQRI|atlcgipilhlgifvsspfhrw* 11BR059 ENSG00000115221.12 ENSG00000153250.20 -/- -/- chr2:160200003 chr2:160318227 CDS/splice-site CDS/splice-site duplication 3 1 0 173 50 medium out-of-frame . Integrin_beta_chain_VWA_domain(100%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%) . . ENSG00000115221.12 ENSG00000153250.20 ENST00000620391.4 ENST00000348849.8 upstream downstream . ^(AAGTAAATCATGTTGAAGTTGCTTTTAAACACAGCTTTTCTGCTTTACCTGTCCAGGTAGCCTCTGTTTTCATTTCAGTCTTAATGAAAACTTTCTAACTTATATCTCAAGTTTCTTTTCAAAGCAGTGTAAGTAGTATTTAAAATGTTATACTTCAAGAAAGAAAGA)CTTTAACGATATTCAGCGTTGGTCTTGTAACGCTGAAGGTAATTCATTTTTTAATCGGTCTGCACAGCAAGAACTGAAACGAATGGGGATTGAACTGCTTTGCCTGTTCTTTCTATTTCTAGGAAGGAATGATCACGTACAAG|ATATGGGAAAATAGTCTCCACAAAGGCAATTTTGGATAAGACAACGAACAAATGCAAtG(___GTTATGGTTTTGTCGACTTTGACAGCCCTGCAGCAGCTCAAAAAGCTGTGTCTGCCCTGAAGGCCAGTGGGGTTCAAGCTCAAATGGCAAAG___CAACAGGAACAAGATCCTACCAACCTCTACATTTCTAATTTGCCACTCTCCATGGATGAGCAAGAACTAGAAAATATGCTCAAACCATTTGGACAAGTTATTTCTACAAGGATACTACGTGATTCCAGTGGTACAAGTCGTGGTGTTGGCTTTGCTAG___GATGGAATCAACAGAAAAATGTGAAGCTGTTATTGGTCATTTTAATGGAAAATTTATTAAGACACCACCAGGAGTTTCTG___CCCCCACAGAACCTTTATTGTGTAAGTTTGCTGATGGAGGACAGAAAAAGAGACAGAACCCAAACAAATACATCCCTAATGGAAGACCATGGCATAGAGAAGGAGAGGTGAGACTT___GCTGGAATGACACTTACTTACGACCCAACTACAGCTGCTATACAGAACGG___ATTTTATCCTTCACCATACAGTATTGCTACAAACCGAATGATCACTCAAACTTCTATTACACCCTATATTGCATCTCCTGTATCTGCCTACCAG___GTGCAAAGTCCTTCGTGGATGCAACCTCAACCATATATTCTACAGCACCCT___GGTGCCGTGTTAACTCCCTCAATGGAGCACACCATGTCACTACAGCCCGCATCAATGATCAGCCCTCTGGCCCAGCAGATGAGTCATCTGTCACTAGGCAGCACCGGAACA___TACATGCCTGCAACGTCAGCTATGCAAGGAGCCTACTTGCCACAGTATGCACATATGCAGACGACAGCGGTTCCTGTTGAG___GAGGCAAGTGGTCAACAGCAGGTGGCTGTCGAGACGTCTAATGACCATTCTCCATATACCTTTCAACCTAATAAGTAACTGTGAG___ATGTACAGAAAGGTGTTCTTACATGAAGAAGGGTGTGAAGGCTGAACAATCATGGATTTTTCTGATCAATTGTGCTTTAGGAAATTATTGACAGTTTTGCACAGGTTCTTGAAAACGTTATTTATAATGAAATCAACTAAAACTATTTTTGCTATAAGTTCTATAAGGTGCATAAAACCCTTAAATTCATCTAGTAGCTGTTCCCCCGAACAGGTTTATTTTAGTAAAAAAAAAAAAACAAAAAACAAAAACAAAAGATTTTTATCAAATGTTATGATGCAAAAAAAGAAAAAGAAAAAAAAAAAGAAAAGAAAACTTCAATTTTCTGGGTATGCACAAAGACCATGAAGACTTATCCAAGTGCATGACCGGATTTTTGTGGTTTTGTTCATTTTGTGTTTAATTTGTGTTTTTTTTTTCCAGCTGTATGAAATGGGCTTTCTGAAGTTTAAATAGTCCGACTTCACCCATGGTGTTCTGTGCTTGCAGTGCGAGTGTTGCTGTAATTCAGTGTTGCCGTCAGTGTCTCTTTTCTTAGCTTTCTGTCTTTCTTTCAACGTAGTGTGAAGTGTCTTATCCTTTTCTATGAATTCCAATTTGCCTTAACTCTTTTGATGCTGTAGCTGTTTCAGTAAAAGTTAGTTCAAACTAATGATGTAGAATGCTTTGACCAAATGAGCTGGTCTATTATGCCTTGTAAAACAGCAGCATAGGGCTTTTAAAAGGTAGTCAATAAAAGTTGCTGAAATTTTGGCTTTTTTAAATATGTAGTAGGTGTTTTTAATGATTTTTCACATAATGTGTAAGGTAGTGAAATGCAAGAAGGGAAAAATGTTTTGTGTGAAACACATTTTCTGACTGGGGAACTTTTATTAGGGTAAATTGTTTGTAAGGCTGTACGCCAACAGTTTCCTCTGATAGTTTGACTGATTTAGGATATCTGCTGTATGATGCAATGTAAAGTCTTTTTTGCCTTTTTTCAGGAAAAAAAAAAAGCTAACTTGATGTACTAGATTTAGTGTAGGTAGTGTTGGGGTTGGGGATGGGGGTGGGGGAGGGGAGTCACTGAATGTTTTGTCCTTCCTTTATACTAATGATAGTGCTTTAGAATGAGAATTATGCCTGAAATCTGGCAAACCGAAAAATGTTGCTATTGCAACAAAGTGGCAAAAGCTAAAAGTAAGGATTTATCTTCAAACATAAGCTGAGATAACGAATAGAAGCAAAACGATTGGCTACTAGCTCTCTCTCTCTCTCTCTATTAGGTAAATTTGAAAAATAAAAATGACTTGGCACTTTTAAAGGTAACTTCACCAAAGACCGAAGAGCCAGTAACCAGTAGCTCCAACTTGTCTCAGCATCACATCTTCTGTGCTCTTTATTTTTGCCGGACCAGTTTGCGGTTAGGAGAATGTGCCTTTTTTGTACCTTTGCATTTAGGTTTTATAATTTTAATTGATGTATGGACACACACAAACAAAAAAGCATGAAGGAAGATTTGGATCCAAGCAGTGCCACACTTTACATCATCACTACAAGTGTTCAAGTGTAAAGAAAACCAATTTTGAAACTATGAAATTCCTGATTCATAAATACACAGTTATTTCTACTTTAGTACATATAAGATAATTCACTGTTATTAAAGCTCTTTTATTAAGGCAATTGCATATGTTTTAAAAGCAATGGTAAATTAAGTTGTCTTCCAAAACTGTGTACTTGTCTGGTCAGCTGTGTATGATCAGTTATCTACCTCAGAGTCTATTTTCTTTTGTGCTGGGACAGGTTGCTGGCCCTCCCTGTTTCCACAGACCAAATCCTCCTAGCTCAGGAGCTAGGGCTAAGCAGTTATTTCTTTCAAGTATTTTTTAGTTCTTAAATTTTATGCTTGTATTTGATGATAGATGTCAGTGACATTTCATAGTTTCAAAAGTCCTTGCTGCTCTGAGAAGTGTAGATTCTAGTGAAAATTACATAGTCATAAGAGAAATGTGTTTTTGTTTTTGTTTTTGTTTCATTTTTTTAAAGTTGTGGTATTATTGGTTCTATGCTCCCTGGAATATTACTGCTTTGTGAAAGTCCAGACTGAACGCAGCACCCTCTGTGTACCTAGTACAGTTATAAACCTGGGTCTCTCACTACTTGATATTTTTGCATTAGTTAAGACAGAAATTTGATAGCTCGGTTAGAGGGGAGGGGAAATCTGCTGCTAGAAATGTCTGAACTAAGTGCCATACTCGTCTGGGTAAGATTTGGGAAACATAACCTCTGTACATAAAAAAAAAAAAATCAGTTAAACATCACATAGTAGACAGCCATTAAATTATAAAAAAATTAATTTATGAAGAAAGACCTTTTGTACAGATTGAAAAAAAAAGATTTTCATAGAGATATCTATATGATCAAGAGAGTTAATTTTTTATTTTTGTTTTACTAGTGCCACAGACTTGCCAGTGGTAACTTATTTGTCCGGTTCAAGATAACTCTGTAGTTTTCTTTCCTAGGACTTGTTGTTAAACGCCAAAAGACATTTTTGAACTGTACATTTGATCAGATTGTTAGCTTTTCTGTTTTATTTCTTTTGAGAACCTTTGAATAAAAAACATCTGAAATTTTA)$ MGIELLCLFFLFLGRNDHVQ|dmgk* 11BR059 ENSG00000072518.20 ENSG00000184999.12 +/+ +/+ chr11:63839560 chr11:63290404 CDS/splice-site CDS duplication 0 3 0 68 39 medium out-of-frame . |Sugar_(and_other)_transporter(100%) . . ENSG00000072518.20 ENSG00000184999.12 ENST00000402010.6 ENST00000332793.11 downstream upstream . ^(AAACAGAGCCGAAGCTTCGTCTTCGGAATCGAGGAGGAGAGCGCGTCCCCGGGGTTTACCTTCTTCGGCTGTTTCCGGAATTCACCCGTAGTCTGTGGCCGGGAGGAGAAGGCGCGCCCCACCTCCCGTTTCTAGCCGCTTCGGATGTTTCCGGCTGCTGCCGGCGAAAAGAGCCGAGGGCCGGCGGTGGTGGCGGCCATGTTGGGAGCAGCAGGTCCGGCGGCGGCTGCCTGTGTGCCGGGCGCGGAGCAGTGCCGCTGAGGGCAGGGGAGGAGCGAGGCAGGCGGCCGGCTGCGGCGGCAGAGAGTAGGCGGAGCGGCGCGGCCCGGCCGAAAGGCGGCACAGCCCAGCCGGGGGTCGGGGGGGTGCGGTCCGGAGCCGCTCGGAGCCGGCGCGGCCTAGCCCGAGCGGCGCATCCCCGGGCTGGCGTGAGCGGCTGCCCGGCCTCCCCGCACCCCCGGCCGGGGCCCATGCGGCGGGTGCTCCTGCTGTGAGAAGCCCCGCCCGGCCGGGCTCCGCGCCTTCCCTTCCCTCCCTTCCTCCAAGCTTCTCGGTTCCCTCCCCCGAGATACCGGCGCCATGTCCAG)CGCTCGGACCCCCCTACCCACGCTGAACGAGAGGGACACGGAGCAG|ACTCAAATCTGAGGCCAGAGAAGTGTCGTCGCTTTGTCCATCCCCAGTGGCAGCTTCTTCACCTGAATGGGACTATCCACAGCACAAGTGAGGCAGACACAGAACCCTGTGTGGATGGCTGGGTATATGATCAAAG(CTACTTCCCTTCGACCATTGTGACTAAG___TGGGACCTGGTATGTGATTATCAGTCACTGAAATCAGTGGTTCAATTCCTACTTCTGACTGGAATGCTGGTGGGAGGCATCATAGGTGGCCATGTCTCAGACAG___GTTTGGGCGAAGATTTATTCTCAGATGGTGTTTGCTCCAGCTTGCCATTACTGACACCTGCGCTGCCTTCGCTCCCACCTTCCCTGTTTACTGTGTACTACGCTTCTTGGCAGGTTTTTCTTCCATGATCATTATATCAAATAATTCTTTGCCCA___TTACTGAGTGGATAAGGCCCAACTCTAAAGCCCTGGTAGTAATATTGTCATCTGGTGCCCTTAGTATTGGACAGATAATCCTGGGAGGCTTGGCTTATGTCTTCCGAGACTGGCAAACCCTGCACGTGGTGGCGTCTGTACCTTTCTTTGTCTTCTTTCTTCTTTCAAG___GTGGCTGGTGGAATCTGCTCGGTGGTTGATAATCACCAATAAACTAGATGAGGGCTTAAAGGCACTTAGAAAAGTTGCACGCACAAATGGAATAAAGAATGCTGAAGAAACCCTGAACATAGAG___GTTGTAAGATCCACCATGCAGGAGGAGCTGGATGCAGCACAGACCAAAACTACTGTGTGTGACTTGTTCCGCAACCCCAGTATGCGTAAAAGGATCTGTATCCTGGTATTTTTGAG___ATTTGCAAACACAATACCTTTTTATGGTACCATGGTCAATCTTCAGCATGTGGGGAGCAACATTTTCCTGTTGCAGGTACTTTATGGAGCTGTCGCTCTCATAGTTCGATGTCTTGCTCTTTTGACACTAAATCATATGGGCCGTCGAATAAGCCAGATATTGTTCATGTTCCTGGTGGGCCTTTCCATTTTGGCCAACACGTTTGTGCCCAAAG___AAATGCAGACCCTGCGTGTGGCTTTGGCATGTCTGGGAATCGGCTGTTCTGCTGCTACTTTTTCCAGTGTTGCTGTTCACTTCATTGAACTCATCCCCACTGTTCTCAG___GGCAAGAGCTTCAGGAATAGATTTAACGGCTAGTAGGATTGGAGCAGCACTGGCTCCCCTCTTGATGACCTTAACGGTATTTTTTACCACTTTGCCATGGATCATTTATGGAATCTTCCCCATCATTGGTGGCCTTATTGTCTTCCTCCTACCAGAAACCAAGAATCTGCCTTTGCCTGACACCATCAAGGATGTGGAAAATCA___AAAAAAAAATCTCAAGGAAAAGGCATAAAAATGATTGCTACACAAAAGTGACCAAATTTTAAGAAGCCTTCATGAGCTGATTGGTGGGGAAATTCAGAAAAAAAAATACAGGAAAAGAACACACCAGAAGGGTTTTTTTCCCTACAACCAGCAAGAACATATATTAGATACATGAATCTCAATTATAATTATGGCATTAATTTGCATTTTATTTCAAAATTAACTTGTGGGGACATGTAATCTCTTGAGCAATCTGATATTTTTGGGAAGTCCTTTAAAAAGTTACAAATTTATCAATAAATTACTAGTAGATAAGATGATTCAGAAACAAAAGAAAATCACAGAATTAGGATGTGGCTGGCTGGTGTATGAAGCACCATGTGATGAATTCATAAAGTTGCAAAAGTCAAAACAATACTGTACATGCAACCAGAAATCAAAATAAATCCAGAAATAGAGACCTATATAAATGCATTTAATACATGATACTTTTGACATAATAAGCCATTGGAAAACGGAAAGATTAGATACTAAATAACATTGACTATCTCTTTGTAAATACAGTCACTAAATGATGTTAGTTACTTTTCCATGGTGGAATTTTAATTACTTTTTCTTTGTAATTTTTCTCTCTGTATATTTTAAACAAATAGCTGGTATAGTTTACAATATTATAAAGATATTGTTCAAATTGAAGGGCAAAGGCCAGGTTCAGCAATTTTCAAACTGTATGTACATTTAATAAAATAACTATAAATTAAAAAATTATATTTCAAA)$ MSSARTPLPTLNERDTEQ|tqi* 11BR059 ENSG00000105186.16 ENSG00000143622.11 -/- -/- chr19:32658914 chr1:155910804 CDS/splice-site CDS/splice-site translocation 0 2 0 21 46 medium out-of-frame . |Ras_family(100%) . . ENSG00000105186.16 ENSG00000143622.11 ENST00000306065.9 ENST00000368322.7 upstream downstream . ^(AGGGCCAGATCGCCGCGCGAGGGTGGTGGGCATCGAGGTCCCAGCAGCGGACGAGGGAGGTGCCGCCGTCGCCCAGGATGGGCTGGGAATGAAGCGATGTAGCCTTTTAA___GAGATTTGCTCTGACCCATCTGAAGTCCATATGGCTCTGTATGATGAAGACCTCCTGAAA)AATCCTTTCTATCTGGCTCTGCAAAAGTGCCGCCCTGACTTGTGCAGCAAAGTGGCCCAAATCCATGGCATT|GTGGCTTTTCCTCGGGGCAACCcAGGAAGGCCCCAAGAGGACAATGGATTCTGGAACTCGCCCAGTTGGTAGCTGCTGTAGCAGCCCCGCTGGGCTCTCACGGGAGTACAAACTAGTGATGCTGGGTGCTGGTGGTGTAGGGAAGAGTG___CCATGACCATGCAGTTCATCAGCCACCGATTCCCAGAAGATCATGATCCCACCATTG___AAG(ATGCTTATAAGATCAGGATCCGTATTGATGATGAGCCTGCCAATCTGGACATTTTGGATACAGCTGGACAG___GCAGAGTTTACAGCCATGCGGGACCAGTATATGAGGGCAGGAGAAGGGTTTATCATCTGTTACTCTATCACGGATCGTCGAAGTTTCCATGAAGTTCGTGAGTTTAAACAGCTTATTTATCGAGTCCGACGTACTGACGATACACCTGTGGTTCTTGTGGGAAACAAGTCAGACCTCAAACAGCTAAGACAG___GTCACCAAGGAAGAAGGATTGGCCTTGGCCCGAGAATTCAGCTGTCCCTTTTTTGAGACATCTGCTGCATACCGCTACTATATTGATGATGTTTTCCATGCCCTTGTACGGGAGATACGTAGGAAAGAAAAGGAGGCAGTACTGGCCATGGAGAAAAAATCTAAGCCCAAAAACAGTGTATGGAAGAGGCTAAAATCACCATTCCGGAAGAAGAAAGATTCAGTAACTTGAAGAGAAGATGTGAAGTGTTTATCTGTGAACTGCAGTGCTGTATCAAAGCAGTCCAGTAACCTGCAGTACTGAGTATGGTGCTTGCTCTTTCACTTAACTGATAAGAGGGACATG)$ MALYDEDLLKNPFYLALQKCRPDLCSKVAQIHGI|vafprgnpgrpqedngfwnspsw* 11BR059 ENSG00000072518.20 ENSG00000256181.1(23548),ENSG00000184999.12(99) +/+ ./+ chr11:63839560 chr11:63289804 CDS/splice-site intergenic duplication 0 2 0 68 12 medium out-of-frame . . . . ENSG00000072518.20 . ENST00000402010.6 . downstream upstream . ^(AAACAGAGCCGAAGCTTCGTCTTCGGAATCGAGGAGGAGAGCGCGTCCCCGGGGTTTACCTTCTTCGGCTGTTTCCGGAATTCACCCGTAGTCTGTGGCCGGGAGGAGAAGGCGCGCCCCACCTCCCGTTTCTAGCCGCTTCGGATGTTTCCGGCTGCTGCCGGCGAAAAGAGCCGAGGGCCGGCGGTGGTGGCGGCCATGTTGGGAGCAGCAGGTCCGGCGGCGGCTGCCTGTGTGCCGGGCGCGGAGCAGTGCCGCTGAGGGCAGGGGAGGAGCGAGGCAGGCGGCCGGCTGCGGCGGCAGAGAGTAGGCGGAGCGGCGCGGCCCGGCCGAAAGGCGGCACAGCCCAGCCGGGGGTCGGGGGGGTGCGGTCCGGAGCCGCTCGGAGCCGGCGCGGCCTAGCCCGAGCGGCGCATCCCCGGGCTGGCGTGAGCGGCTGCCCGGCCTCCCCGCACCCCCGGCCGGGGCCCATGCGGCGGGTGCTCCTGCTGTGAGAAGCCCCGCCCGGCCGGGCTCCGCGCCTTCCCTTCCCTCCCTTCCTCCAAGCTTCTCGGTTCCCTCCCCCGAGATACCGGCGC)CATGTCCAGCGCTCGGACCCCCCTACCCACGCTGAACGAGAGGGACACGGAGCAG|CTTATTTAGAGAACATGTACATGCCAAAGTCCAATGTAAATTTCATGAGTCACTTGAGGACAAACATATTTGGAGAGAGTAAAC MSSARTPLPTLNERDTEQ|li* 11BR060 ENSG00000125686.12 ENSG00000125686.12 -/- -/+ chr17:39427701 chr17:39434684 CDS/splice-site intron inversion/5'-5' 198 164 2 1087 542 high out-of-frame . . . . ENSG00000125686.12 ENSG00000125686.12 ENST00000394287.7 . upstream upstream duplicates(78),mismatches(7) ^(TTTGGGAAGTTCCGTTGGGGAAGATGGCGGCGGCCTCGAGCACCCTTCTCTTCTTGCCGCCGGGGACTTCAGATTGATCCTTCCCGGGAAGAGTAGGGACTGCTGGTGCCCTGCGTCCCGGGATCCCGAGCCAACTTGTTTCCTCCGTTAGTGGTGGGGAAGGGCTTATCCTTTTGTGGCGGATCTAGCTTCTCCTCGCCTTCAGGATGAAAGCTCAGGGGGAAACCGAGG___AGTCAGAAAAGCTGAGTAAGATGAGTTCTCTCCTGGAACGGCTCCATGCAAAATTTAACCAAAATAGACCCTGGAGTGAAACCATTAAGCTTGTGCGTCAAGTCATG___GAGAAGAGGGTTGTGATGAGTTCTGGAGGGCATCAACATTTGGTCAGCTGTTTGGAGACATTGCAGAAGGCTCTCAAAG___TAACATCTTTACCAGCAATGACTGATCGTTTGGAGTCCATAGCAAGACAGAATGG___ACTGGGCTCTCATCTCAGTGCCAGTGGCACTGAATGTTACATCACGTCAGATATGTTCTATGTGGAAGTGCAGTTAGATCCTGCAGGACAGCTTTGTGATGTAAAAGTGGCTCACCA)TGGGGAGAATCCTGTG___AGCTGTCCGGAGCTTGTACAGCAGCTAAG___GGAAAAAAATTTTGATGAATTTTCTAAGCACCTTAAGGGCCTTGTTAATCTGTATAACCTTCCAGGGGACAA___CAAACTGAAGACTAAAATGTACTTGGCTCTCCAATCCTTAGAACAAGATCTTTCTAAAATGGCAATTATGTACTG___GAAAGCAACTAATGCTGGTCCCTTGGATAAGATTCTTCATGGAAGTGTTGGCTATCTCACACCAAGGAGTGGGG___GTCATTTAATGAACCTGAAGTACTATGTCTCTCCTTCTGACCTACTGGATGACAAGACTGCATCTCCCATCATTTTGCATGAGAATAATG|AGACGGGGTTTCCCGATGTTGCCCAGGCCAGACTCTAACTCCAGGACTTCAGCAATGCTCTCACTTCAACCTCTCACCTTCAACAACAGGTGTGCACCACCACACCCAGCTCCTTTCCTCCAAATATGTAACTGAATTTGGATGTCAACAAAAATAAAACTTTTGATTGCAGAGATAATAAGAAGAAAATAAATTAGG MKAQGETEESEKLSKMSSLLERLHAKFNQNRPWSETIKLVRQVMEKRVVMSSGGHQHLVSCLETLQKALKVTSLPAMTDRLESIARQNGLGSHLSASGTECYITSDMFYVEVQLDPAGQLCDVKVAHHGENPVSCPELVQQLREKNFDEFSKHLKGLVNLYNLPGDNKLKTKMYLALQSLEQDLSKMAIMYWKATNAGPLDKILHGSVGYLTPRSGGHLMNLKYYVSPSDLLDDKTASPIILHENN|etgfpdvaqarl* 11BR060 ENSG00000141736.13 ENSG00000148513.18 +/+ +/- chr17:39723660 chr10:37247031 CDS/splice-site intron translocation/5'-5' 41 51 1 4869 177 high out-of-frame . Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%)| . . ENSG00000141736.13 ENSG00000148513.18 ENST00000584601.5 . downstream downstream duplicates(10),mismatches(3) ^(AGTACGCAGTCGCGGTACACCGGCTCACGGTCGCCCTGGGAGCCGCTCGCCAGCGCCGCTGCCCCAGCTAGCAGGACCAACCGCGCCGCCAGGCCGGCCATCCTTTCTCCCTGGCTCGCCGCCGGGGGAGGAGCTTAGGAGTATGAAGCTTCCACTTCCGGAGTAACCGGAAGTTCCTGTGTTCTTTATTCTACTCTCCGCTGAAGTCCACACAGTTTAAATTAAAGTTCCCGGATTTTTGTGGGCGCCTGCCCCGCCCCTCGTCCCCCTGCTGTGTCCATATATCGAGGCGATAGGGTTAAGGGAAGGCGGACGCCTGATGGGTTAATGAGCAAACTGAAGTGTTTTCCATGATCTTTTTTGAG___TCGCAATTGAAGTACCACCTCCCGAGGGTGATTGCTTCCCCATGCGGGGTAGAACCTTTGCTGTCCTGTTCACCACTCTACCTCCAGCACAGAATTTGGCTTATG___CCTACTCAATGTGAAGATGATGAGGATGAAAACCTTTGTGATGATCCACTTCCACTTAATGAATG___GTGGCAAAGCAAAGCTATATTCAAGACCACATGCAAAGCTACTCCCTGAGCAAAGAGTCACAGATAAAACGGGGGCACCAGTAGAATGGCCAGGACAAACGCAGTGCAGCACAGAGACTCAGACCCTGGCAGCCATGCCTGCGCAGGCAGTGATGAGAGTGACATGTACTGTTGTGGACATGCACAAAAGTGAG___ATACTTCAAAGATTCCAGAAGATATGCCCCGGGGGTCCTGGAAGCCACAAG___TGTGCACCGGCACAGACATGAAGCTGCGGCTCCCTGCCAGTCCCGAGACCCACCTGGACATGCTCCGCCACCTCTACCAGGGCTGCCAGGTGGTGCAGGGAAACCTGGAACTCACCTACCTGCCCACCAATGCCAGCCTGTCCTTCCTGCAG___GATATCCAGGAGGTGCAGGGCTACGTGCTCATCGCTCACAACCAAGTGAGGCAGGTCCCACTGCAGAGGCTGCGGATTGTGCGAGGCACCCAGCTCTTTGAGGACAACTATGCCCTGGCCGTGCTAGACAATGGAGACCCGCTGAACAATACCACCCCTGTCACAGGGGCCTCCCCAGGAGGCCTGCGGGAGCTGCAGCTTCGAAGCCTCACAG___AGATCTTGAAAGGAGGGGTCTTGATCCAGCGGAACCCCCAGCTCTGCTACCAGGACACGATTTTGTGGAAGGACATCTTCCACAAGAACAACCAGCTGGCTCTCACACTGATAGACACCAACCGCTCTCGGGCCT___GCCACCCCTGTTCTCCGATGTGTAAGGGCTCCCGCTGCTGGGGAGAGAGTTCTGAGGATTGTCAGAGCC___TGACGCGCACTGTCTGTGCCGGTGGCTGTGCCCGCTGCAAGGGGCCACTGCCCACTGACTGCTGCCATGAGCAGTGTGCTGCCGGCTGCACGGGCCCCAAGCACTCTGACTGCCTG___GCCTGCCTCCACTTCAACCACAGTGGCATCTGTGAGCTGCACTGCCCAGCCCTGGTCACCTACAACACAGACACGTTTGAGTCCATGCCCAATCCCGAGGGCCGGTATACATTCGGCGCCAGCTGTGTGACTGCCTGTCCCT___ACAACTACCTTTCTACGGACGTGGGATCCTGCACCCTCGTCTGCCCCCTGCACAACCAAGAGGTGACAGCAGAGGATGGAACACAGCGGTGTGAGAAGTGCAGCAAGCCCTGTGCCCGAG___TGTGCTATGGTCTGGGCATGGAGCACTTGCGAGAGGTGAGGGCAGTTACCAGTGCCAATATCCAGGAGTTTGCTGGCTGCAAGAAGATCTTTGGGAGCCTGGCATTTCTGCCGGAGAGCTTTGATGG___GGACCCAGCCTCCAACACTGCCCCGCTCCAGCCAGAGCAGCTCCAAGTGTTTGAGACTCTGGAAGAGATCACAG___GTTACCTATACATCTCAGCATGGCCGGACAGCCTGCCTGACCTCAGCGTCTTCCAGAACCTGCAAGTAATCCGGGGACGAATTCTGCACAA___TGGCGCCTACTCGCTGACCCTGCAAGGGCTGGGCATCAGCTGGCTGGGGCTGCGCTCACTGAGGGAACTGGGCAGTGGACTGGCCCTCATCCACCATAACACCCACCTCTGCTTCGTGCACACGGTGCCCTGGGACCAGCTCTTTCGGAACCCGCACCAAGCTCTGCTCCACACTGCCAACCGGCCAGAGGACGAGTGTG___TGGGCGAGGGCCTGGCCTGCCACCAGCTGTGCGCCCGAGGGCACTGCTGGGGTCCAGGGCCCACCCAGTGTGTCAACTGCAGCCAGTTCCTTCGGGGCCAGGAGTGCGTGGAGGAATGCCGAGTACTGCAGGG___GCTCCCCAGGGAGTATGTGAATGCCAGGCACTGTTTGCCGTGCCACCCTGAGTGTCAGCCCCAGAATGGCTCAGTGACCTGTTTTGGACCG___GAGGCTGACCAGTGTGTGGCCTGTGCCCACTATAAGGACCCTCCCTTCTGCGTGGCCCGCTGCCCCAGCGGTGTGAAACCTGACCTCTCCTACATGCCCATCTGGAAGTTTCCAGATGAGGAGGGCGCATGCCAGCCTTGCCCCATCAACTGCACCCACTC___CTGTGTGGACCTGGATGACAAGGGCTGCCCCGCCGAGCAGAGAGCCAG___CCCTCTGACGTCC)ATCATCTCTGCGGTGGTTGGCATTCTGCTGGTCGTGGTCTTGGGGGTGGTCTTTGGGATCCTCATCAAGCGACGGCAGCAGAAGATCCGGAAGTACACGATGCGGAGACTGCTGCAGGAAACGGAG___CTGGTGGAGCCGCTGACACCTAGCGGAGCGATGCCCAACCAGGCGCAGATGCGGATCCTGAAAGAGACGGAGCTGAGGAAGGTGAAGGTGCTTGGATCTGGCGCTTTTGGCACAGTCTACAAG|AGGAACGTTCTAGGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGTCTCCCAAAGAGCTAAAATCACAGGCCTGAGCCACTGTGCCTGGGCTCTGGGCACATTTATTAACTTAAACAATGTCTGGAGACATTTTTTATTATCACTGAGGGAAGGGGTGCTATGATGATGAGGTGCTATTGGCCTCTAGTGGGCAGGATCTGGTAAGCATCCTACAATGTACAAGGGAACACCATACACAAAGAATCATCCCATCCAACATGTTGACAATGCTAAGATTGGAAAATCCTTCTCTAGAACCATCCTTAATGCCTCTATATCTTCCACTCATTTCTGAAAAGAG MKLRLPASPETHLDMLRHLYQGCQVVQGNLELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGTQLFEDNYALAVLDNGDPLNNTTPVTGASPGGLRELQLRSLTEILKGGVLIQRNPQLCYQDTILWKDIFHKNNQLALTLIDTNRSRACHPCSPMCKGSRCWGESSEDCQSLTRTVCAGGCARCKGPLPTDCCHEQCAAGCTGPKHSDCLACLHFNHSGICELHCPALVTYNTDTFESMPNPEGRYTFGASCVTACPYNYLSTDVGSCTLVCPLHNQEVTAEDGTQRCEKCSKPCARVCYGLGMEHLREVRAVTSANIQEFAGCKKIFGSLAFLPESFDGDPASNTAPLQPEQLQVFETLEEITGYLYISAWPDSLPDLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGLALIHHNTHLCFVHTVPWDQLFRNPHQALLHTANRPEDECVGEGLACHQLCARGHCWGPGPTQCVNCSQFLRGQECVEECRVLQGLPREYVNARHCLPCHPECQPQNGSVTCFGPEADQCVACAHYKDPPFCVARCPSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSCVDLDDKGCPAEQRASPLTSIISAVVGILLVVVLGVVFGILIKRRQQKIRKYTMRRLLQETELVEPLTPSGAMPNQAQMRILKETELRKVKVLGSGAFGTVYK|rnvlgtpglk* 11BR060 ENSG00000160551.11 ENSG00000147408.14 +/+ -/+ chr17:29517656 chr8:19490858 CDS/splice-site intron translocation/5'-5' 12 17 2 156 62 high out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000160551.11 ENSG00000147408.14 ENST00000261716.7 . downstream upstream duplicates(2) ^(CTTACCAGGGGTGGTGTTGGTGGCGGAGGGCTGCGCGTGGGCCCGCCCGCCGAGGGGCCGCGGCGGGGGACCGAGAGGGCCTCGGCTGTGTGAGGACTAGAGGCGGCCGAGGCCCGGGCCGGTTCCCCCGAGGCGGCGACGGAGACGGCTCCCGGCACTTCCCCGCGCCATCTTAACTGAGCCCAAGCGCTGAGGGCGCCTCCTCGACCCCGGTCGTCCCCTCGCCCCCCCCCCCACCCCCCGCCGCCGCCGCCCCTTGTTGCAGAGCTTGGGCTGGGCGGCTTGCTGGGGCTCGGGGGTGGGGGGCGGCGATCTGTCGCCGGGCCCCCTCCTCCTCCTCACTCCTCACCCTCCAGGGTAGCGGCTACCGGAGCGCTGCAGGGGGCTGCGCCTGCCTGCTCCGCCCCAGACCTGTCGGCGAAAGG___TAGTTTATGCCAACGTGACTTCATTCATACAGATGAACCAAGGATCGGGATAGCAGTATAAAATTAGAATCAAGACAGCTGACTGCTCAGCAGGATGCCATCAACTAACAGAGCAGGCAGCCTGAAGGACCCTGAAATTGCAGAGCTCTTCTTCAAAGAAGATCCAGAGAAGCTCTTCACAGATCTCAGAGAAATTGGCCATGGAAGCTTTGGAGCAGTGTATTTT___GCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAG___AAATGGCAGGATATTATTAAGGAAGTCAAGTTTCTACAAAGAATAAAACATCCCAACAGTATAGAATACAAAGGCTGTTATTTACGTGAACACACAGCATGG___CTTGTAATGGAATATTGTTTAGGATCTGCTTCGGATTTACTAGAAG___TTCACAAAAAGCCATTACAAGAAGTGGAAATAGCAGCAATTACACATGGTGCTCTTCAGGGATTAGCCTACTTACATTCTCATACTATGATTCATAG___AGATATCAAAGCAGGAAATATCCTTCTGACAGAACCAGGCCAGGTGAAACTTGCTGACTTTGGCTCTGCTTCCATGGCATCACCTGCCAATTCCTTTGTGGGAACGCCGTATTG___GATGGCCCCAGAAGTAATTTTAGCCATGGATGAAGGACAATATGATGGCAAAGTAGATGTGTGGTCTCTTGGAATAACATGTATTGAACTAG___CGGAAAGGAAGCCTCCTTTATTTAATATGAATGCAATGAGTGCCTTATATCACATAGCCCAAAATGAATCCCCTACACTACAGTCTAATGAATG___GTCTGATTATTTTCGCAACTTTGTAGATTCTTGCCTCCAGAAAATCCCTCAAGATCGACCTACATCAGAGGAACTTTTAAAG___CACATATTTGTTCTTCGGGAGCGCCCTGAAACCGTGTTAATAGATCTCATTCAGAGGACAAAGGATGCAGTAAGAGAGCTGGACAATCTGCAGTATCGAAAGATGAAGAAACTCCTTTTCCAGGAGGCACATAATGGACCAGCAGTAGAAGCACAGGAAGAAGAAGAG___GAACAAGATCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGGAAGTAATCAATCCATTCCCAGCATGTCCATCAGTGCCAGCAGCCAAAGCAGTAGTGTTAACAGTCTTCCAGATGTCTCAGATGACAAGAGTGAGCTAGACATGATGGAGGGAGACCACACAGTGATGTCTAACAGTTCTGTTATCCATTTAAAACCA___GAGGAAGAAAATTACAGAGAAGAGGGAGATCCTAGAACAAGAGCATCAGATCCACAATCTCCACCCCAAGTATCTCGTCACAAATCACACTATCGTAATCGAGAACACTTTGCTACTATACGGACAGCATCACTG___GTTACGAGGCAAATGCAAGAACATGAGCAGGACTCTGAGCTTAGAGAACAAATGTCTGGCTATAAGCGAATGAGGCGACAACATCAAAAGCAACTGATGACTCTGGAAAACAAGCTAAAGGCTGAGATGGATGAACATCGCCTCAGATTAGACAAAGATCTTGAAACTCAGCGTAACAATTTTGCTGCAGAAATGGAGAAACTTATCAAGAAACACCAGGCTGCCATGGAGAAAGAG___GCTAAAGTGATGTCCAA)TGAAGAGAAAAAATTTCAGCAACATATTCAGGCCCAACAGAAGAAAGAACTGAATAGTTTTCTCGAGTCCCAGAAAAGAGAGTATAAACTTCGAAAAGAGCAGCTTAAAGAG___GAGCTAAATGAAAACCAGAGTACCCCCAAAAAAGAAAAACAGGAGTGGCTTTCAAAGCAGAAGGAGAATATACAGCATTTCCAAGCAGAAGAAGAAGCTAACCTTCTTCGACGTCAAAGACAATACCTAGAGCTGGAATGCCGTCGCTTCAAGAGAAGAATGTTACTTGGGCGTCATAACTTAGAGCAGGACCTTGTCAGGGAG|GTGATTCCCAGGCAGCAGGAAGGAAGTCCCCTGAAACTACCACCTCGAAACCTGGGACTGTTTCAATTACCCTATTCTGTCACGTTTAGAATCAAATGCTAATTTATTTTCTAGTCATGTCAACATGATTCAAGCACTGCCATATCTTATTGCAAAGTATAACAGCAACAGAATTTCCAAAGAAAGTATCTGGAAAACACAGCATCACTCATAATTCTACCACTCAGG MPSTNRAGSLKDPEIAELFFKEDPEKLFTDLREIGHGSFGAVYFARDVRTNEVVAIKKMSYSGKQSTEKWQDIIKEVKFLQRIKHPNSIEYKGCYLREHTAWLVMEYCLGSASDLLEVHKKPLQEVEIAAITHGALQGLAYLHSHTMIHRDIKAGNILLTEPGQVKLADFGSASMASPANSFVGTPYWMAPEVILAMDEGQYDGKVDVWSLGITCIELAERKPPLFNMNAMSALYHIAQNESPTLQSNEWSDYFRNFVDSCLQKIPQDRPTSEELLKHIFVLRERPETVLIDLIQRTKDAVRELDNLQYRKMKKLLFQEAHNGPAVEAQEEEEEQDHGVGRTGTVNSVGSNQSIPSMSISASSQSSSVNSLPDVSDDKSELDMMEGDHTVMSNSSVIHLKPEEENYREEGDPRTRASDPQSPPQVSRHKSHYRNREHFATIRTASLVTRQMQEHEQDSELREQMSGYKRMRRQHQKQLMTLENKLKAEMDEHRLRLDKDLETQRNNFAAEMEKLIKKHQAAMEKEAKVMSNEEKKFQQHIQAQQKKELNSFLESQKREYKLRKEQLKEELNENQSTPKKEKQEWLSKQKENIQHFQAEEEANLLRRQRQYLELECRRFKRRMLLGRHNLEQDLVRE|viprqqegsplklpprnlglfqlpysvtfrikc* 11BR060 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 12 13 0 83 47 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream inconsistently_clipped(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGA)GTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR060 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 8 0 220 53 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGC)AGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCA?ACTTCCTTTCAGGTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR060 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 4 17 0 26 90 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(3) CGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGAC(CTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR060 ENSG00000141736.13 ENSG00000132141.14 +/+ -/- chr17:39688800 chr17:34952053 5'UTR/splice-site CDS/splice-site inversion 11 9 1 106 34 high . . |TCP-1/cpn60_chaperonin_family(100%) . . ENSG00000141736.13 ENSG00000132141.14 ENST00000584601.5 ENST00000421975.7 downstream downstream duplicates(4),mismatches(1) ^(AGTACGCAGTCGCGGTACACCGGCTCACGGTCGCCCTGGGAGCCGCTCGCCAGCGCCGCTGCCCCAGCTAGCAGGACCAACCGCGCCGCCAGGCCGGCCATCCTTTCTCCCTGGCTCGCCGCCGGGGGAGGAGCTTAGGAGTATGAAGCTTCCACTTCCGGAGTAACCGGAAGTTCCTGTGTTCTTTATTCTACTCTCCGCTGAAGTCCACACAGTTTAAATTAAAGTTCCCGGATTTTTGTGGGCGCCTGCCCCGCCCCTCGTCCC)CCTGCTGTGTCCATATATCGAGGCGATAGGGTTAAGGGAAGGCGGACGCCTGATGGGTTAATGAGCAAACTGAAGTGTTTTCCATGATCTTTTTTGAG___TCGCAATTGAAGTACCACCTCCCGAGGGTGATTGCTTCCCCATGCGGGGTAGAACCTTTGCTGTCCTGTTCACCACTCTACCTCCAGCACAGAATTTGGCTTATG|GTTGTGGTGGATTCTGTTTTGGCTGTTAGAAGACCAGGTTACCCTATTGATCTCTTCATGGTAGAAATAATGGAGATGAAGCATAAATTAGGAACAGATACAAA___AGAGGTGAACTCTGGTTTCTTTTATAAGACTGCAGAAGAGAAAGAGAAATTGGTAAAAGCTGAAAGAAAATTTATTGAAGATAGAGTACAAAAAATAATAGACCTGAAGGACAAAGTCTGTGCTCAGTCAAATAAAGGATTTGTC(GTCATTAATCAAAAG___GGAATTGATCCATTTTCCTTAGATTCTCTTGCAAAACATGGAATAGTAGCTCTTCGCAGAGCAAAAAGAAGAAATATGGAAAG___ACTCTCTCTTGCTTGTGGTGGAATGGCCGTGAATTCTTTTGAAGATCTCACTGTAGATTGCTTGGGACATGCTGGTCTTGTGTATGAGTATACATTA___GGTGAAGAAAAGTTCACTTTTATTGAGGAGTGTGTTAACCCTTGCTCTGTTACCTTGTTGGTTAAAGGACCAAATAAGCATACTCTCACACAAGTCAAGGATGCCATAAGAGATGGACTTCGTGCTATCAAAAATGCCATTGAAGATG___GTTGTATGGTTCCTGGAGCTGGTGCAATTGAAGTGGCAATGGCTGAAGCTCTTGTTACATATAAGAACAGTATAAAAGGAAGAGCTCGTCTTGGAGTCCAAGCTTTTGCTGATGCCTTACTCATTATTCCCAAG___GTTCTTGCTCAGAATGCTGGTTATGACCCACAGGAAACATTAGTAAAAGTTCAGGCTGAGCATGTCGAGTCAAAACAACTTGTGGGCGTAGATTTGAATACAG___GTGAGCCAATGGTAGCAGCAGATGCAGGAGTTTGGGATAATTATTGTGTAAAAAAACAACTTCTTCACTCTTG___CACAGTGATTGCCACCAACATTCTCCTGGTTGATGAAATTATGCGAGCTGGGATGTCTTCTCTCAAATGATGATTGAATTCAAAATCAACCCTTCTAGAAGATGAAATTTAGTACACTTTACATCTGACTACTATTGTGTAGCCTGAGCCATTCTGAATTTCTACACAATAAATGCAGTTTATGTCTTTTGGGTCTTAATAGTCTCAAAAATATTTCATCAAGGTATAAAGAACACAATAAATACTTTTACAGTAAAGG)$ . 11BR060 ENSG00000100036.13 ENSG00000100285.10 +/+ +/+ chr22:30637069 chr22:29483375 CDS/splice-site CDS/splice-site duplication 6 11 0 20 28 high in-frame . Triose-phosphate_Transporter_family(100%)|Intermediate_filament_protein(100%),Repeat_of_unknown_function_(DUF1388)(100%) . . ENSG00000100036.13 ENSG00000100285.10 ENST00000406566.1 ENST00000310624.7 downstream upstream duplicates(1),mismatches(1) ^(CTCACCTGTCTGAAACGGGACACGGGGTCGGAGGAACCAGGATCTAGCCTGGCCCCAAGCGGAACTCTCTGGTGGCCCAGAGGTCGTCACTGGGGAGCCCGCCTCCTGCCCTAGCCTCACTGGTGCGGATGTGCCGCTGCCCGCCGGAGCACCATGATGGCAGGATGACCTCAGCCGAAGTAGGAGCAGCAGCTGGTGGTGCTCAGGCGGCTGGGCCCCCCGAGTGGCCCCCTGGCAGCCCTCAGGCCCTCCGGCAGCCTGGCCGGGCCCGAGTGGCCATGGCAGCACTGGTGTGGCTGCTGGCGGGAGCCAGCATGTCAAGCCTCAACAAGTGGATCTTCACAGTGCACGGCTTTGGGCGGCCCCTGCTGCTGTCGGCCCTGCACAT)GCTGGTGGCAGCCCTGGCATGCCACCGGGGGGCACGGCGCCCCATGCCAGGCGGCACTCGCTGCCGAGTCCTACTGCTCAGTCTCACCTTTGGCACGTCCATGGCCTGCGGCAACGTGGGCCTAAGGGCTGTGCCCCTGGACCTGGCACAACTGGTTACTACCACCACACCTCTGTTCACCCTGGCCCTGTCGGCGCTGCTGCTGGGCCGCCGCCACCACCCACTTCAGTTGGCCGCCATGGGTCCGCTCTGCCTGGGGGCCGCCTGCAGCCTGGCTGGAGAGTTCCGGACACCCCCTACCGGCTGTGGCTTCCTGCTCGCAGCCACCTGCCTCCGCGGACTCAAGTCGGTTCAGCAAA|TGAGGCTGGACCGACTGTCGGAGGCAGCCAAGGTGAACACAGACGCTATGCGCTCAGCGCAGGAGGAGATAACTGAGTACCGGCGTCAGCTGCAGGCCAGGACCACAGAGCTGGAGGCACTGAAAAGCACCAAGGACTCACTGGAGAGGCAGCGCTCTGAGCTGGAGGACCGTCATCAGGCCGACATTGCCTCCTACCAG___GAAGCCATTCAGCAGCTGGACGCTGAGCTGAGGAACACCAAGTGGGAGATGGCCGCCCAGCTGCGAGAATACCAGGACCTGCTCAATGTCAAGATGGCTCTGGATATAGAGATAGCCGCTTACAG___AAAACTCCTGGAAGGTGA(AGAGTGTCGGATTGGCTTTGGCCCAATTCCTTTCTCGCTTCCAGAAGGACTCCCCAAAATTCCCTCTGTGTCCACTCACATAAAGGTGAAAAGCGAAGAGAAGATCAAAGTGGTGGAGAAGTCTGAGAAAGAAACTGTGATTGTGGAGGAACAGACAGAGGAGACCCAAGTGACTGAAGAAGTGACTGAAGAAGAGGAGAAAGAGGCCAAAGAGGAGGAGGGCAAGGAGGAAGAAGGGGGTGAAGAAGAGGAGGCAGAAGGGGGAGAAGAAGAAACAAAGTCTCCCCCAGCAGAAGAGGCTGCATCCCCAGAGAAGGAAGCCAAGTCACCAGTAAAGGAAGAGGCAAAGTCACCGGCTGAGGCCAAGTCCCCAGAGAAGGAGGAAGCAAAATCCCCAGCCGAAGTCAAGTCCCCTGAGAAGGCCAAGTCTCCAGCAAAGGAAGAGGCAAAGTCACCGCCTGAGGCCAAGTCCCCAGAGAAGGAGGAAGCAAAATCTCCAGCTGAGGTCAAGTCCCCCGAGAAGGCCAAGTCCCCAGCAAAGGAAGAGGCAAAGTCACCGGCTGAGGCCAAGTCTCCAGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCACCGGCTGAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAATCTCCAGCTGAGGTCAAGTCCCCGGAAAAGGCCAAGTCTCCAACGAAGGAGGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGACCCCCGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCTAAGTCCCCAGAGAAGGCCAAGTCCCCAGAGAAGGCCAAGACTCTTGATGTGAAGTCTCCAGAAGCCAAGACTCCAGCGAAGGAGGAAGCAAGGTCCCCTGCAGACAAATTCCCTGAAAAGGCCAAAAGCCCTGTCAAGGAGGAGGTCAAGTCCCCAGAGAAGGCGAAATCTCCCCTGAAGGAGGATGCCAAGGCCCCTGAGAAGGAGATCCCAAAAAAGGAAGAGGTGAAGTCCCCAGTGAAGGAGGAGGAGAAGCCCCAGGAGGTGAAAGTCAAAGAGCCCCCAAAGAAGGCAGAGGAAGAGAAAGCCCCTGCCACACCAAAAACAGAGGAGAAGAAGGACAGCAAGAAAGAGGAGGCACCCAAGAAGGAGGCTCCAAAGCCCAAGGTGGAGGAGAAGAAGGAACCTGCTGTCGAAAAGCCCAAAGAATCCAAAGTTGAAGCCAAGAAGGAAGAGGCTGAAGATAAGAAAAAAGTCCCCACCCCAGAGAAGGAGGCTCCTGCCAAGGTGGAGGTGAAGGAAGACGCTAAACCCAAAGAAAAGACAGAGGTAGCCAAGAAGGAACCAGATGATGCCAAGGCCAAGGAACCCAGCAAACCAGCAGAGAAGAAGGAGGCAGCACCGGAGAAAAAAGACACCAAGGAGGAGAAGGCCAAGAAGCCTGAGGAGAAACCCAAGACAGAGGCCAAAGCCAAGGAAGATGACAAGACCCTCTCAAAAGAGCCTAGCAAGCCTAAGGCAGAAAAGGCTGAAAAATCCTCCAGCACAGACCAAAAAGACAGCAAGCCTCCAGAGAAGGCCACAGAAGACAAGGCCGCCAAGGGGAAGTAAGGCAGGGAGAAAGGAACATCCGGAACAGCCAAAGAAACTCAGAAGAGTCCCGGAGCTCAAGGATCAGAGTAACACAATTTTCACTTTTTCTGTCTTTATGTAAGAAGAAACTGCTTAGATGACGGGGCCTCCTTCTTCAAACAGGAATTTCTGTTAGCAATATGTTAGCAAGAGAGGGCACTCCCAGGCCCCTGCCCCCAGGCCCTCCCCAGGCGATGGACAATTATGATAGCTTATGTAGCTGAATGTGATACATGCCGAATGCCACACGTAAACACTTGACTATAAAAACTGCCCCCCTCCTTTCCAAATAAGTGCATTTATTGCCTCTATGTGCAACTGACAGATGACCGCAATAATGAATGAGCAGTTAGAAATACATTATGCTTGAGATGTCTTAACCTATTCCCAAATGCCTTCTGTTTTCCAAAGGAGTGGTCAAGCCCTTGCCCAGAGCTCTCTATTCTGGAAGAGCGGTCCAGGTGGGGCCGGGGACTGGCCACTGAATTATGCCAGGGCGCACTTTCCACTGGAGTTCACTTTCAATTGCTTCTGTGCAATAAAACCAAGTGCTTATAAAATGAAAATGTTGCTGCTGTTATTCTCTTTCCCTGGGAAGGCTGGGGGCAGGGCAGGGGAGGTCTGGATGTGACACCCCAGACTGCATGGGACTGAGCAAGCATCAGT)$ MCRCPPEHHDGRMTSAEVGAAAGGAQAAGPPEWPPGSPQALRQPGRARVAMAALVWLLAGASMSSLNKWIFTVHGFGRPLLLSALHMLVAALACHRGARRPMPGGTRCRVLLLSLTFGTSMACGNVGLRAVPLDLAQLVTTTTPLFTLALSALLLGRRHHPLQLAAMGPLCLGAACSLAGEFRTPPTGCGFLLAATCLRGLKSVQQ|mRLDRLSEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPFSLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKEEEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKSPEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEARSPADKFPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVKVKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKKEEAEDKKKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEEKAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK* 11BR060 ENSG00000109111.15 ENSG00000141376.22 +/+ +/- chr17:28691063 chr17:60721300 CDS/splice-site intron inversion/3'-3' 8 9 0 283 140 high out-of-frame . Acidic_N-terminal_SPT6(100%),Death-like_domain_of_SPT6(100%),Helix-hairpin-helix_motif_______________________(100%),Helix-turn-helix_DNA-binding_domain_of_SPT6(100%),Holliday-junction_resolvase-like_of_SPT6_(100%)| . . ENSG00000109111.15 ENSG00000141376.22 ENST00000314616.11 . downstream downstream . ^(GTTGACGCAGCAGCGGCGGCGGTGGCGGCGGAGGGGCCGTGCGGTGGGTCCGTACTATCTTTTCCCAGTCTCGGTTCGACGACTCCATTTTCCTCGGTGGGGGCTTAGCGCACTGGAGGAGCGGCGGGCTTCAGACAG___TTATCTTCAGGCAGAGTGAGAAGCTGCAGCAATGTCTGATTTTGTGGAAAGCGAGGCTGAGGAGTCAGAGGAAGAATACAATGATGAAGGCGAGGTGGTACCCCGAGTCACCAAGAAATTTGTGGAAGAGGAGGATGATG___ATGAGGAGGAGGAGGAGGAGAACCTAGATGATCAGGATGAGCAAGGCAACTTGAAAGGCTTTATCAATGACGATGATGATGAAGATGAAGGGGAGGAGGATGAGGGCAGTGACTCTGGTGATTCAGAAGATGATGTTGGCCACAAGAAGAGAAAACGCA___CCTCTTTTGATGACCGCCTGGAGGATGATGATTTTGACCTCATTGAGGAGAATTTGGGTGTCAAAGTCAAAAGAGGA___CAAAAGTACCGGCGTGTCAAAAAAATGTCAGATGACGAGGACGATGACGAGGAGGAATATGGCAAGGAGGAACATGAAAAAGAAGCTATTGCGGAAGAAATCTTCCAGGATGGGGAAGGGGAAGAAGGGCAGGAGGCCATGGAGGCCCCCATGGCTCCTCCAGAGGAGGAGGAAGAAGATGATGAGGAGTCAG___ATATTGACGACTTCATTGTGGATGATGATGGACAGCCTCTGAAAAAACCTAAGTGGCGGAAAAAGCTTCCTGGATACACAGACGC___GGCCCTGCAAGAAGCCCAGGAAATCTTCGGTGTGGACTTTGACTATGATGAATTTGAGAAATACAATGAGTATGATGAAGAACTGGAGGAAGAGTATGAGTATGAGGATGATGAGGCTGAGGGTGAAATCCGAGTGCGCCCCAAGAAGACCACCAAGAAGCGTGTGAGCCGTAGGAGCATCTTTGAAATGTATGAGCCCAGTGAGCTAGAAAGCAGCCACCTCACAGATCAGGACAATGAAATCCGAGCCACTGACCTGCCTGAGAGGTTCCAG___CTCCGCTCCATCCCAGTCAAGGGGGCTGAAGATGATGAACTAGAAGAAGAAGCTGACTGGATCTACAGGAATGCTTTTGCCACACCAACCATTTCTCTCCAG___GAAAGCTGTGATTACCTAGACCGAGGGCAGCCAGCCAGCAGCTTCAGTCGGAAAGGGCCCAGCACAATTCAGAAGATCAAAGAGGCCCTGGGCTTCATGCGAAATCAGCATTTTGAG___GTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAG___TGGACCCAGCTGCGGATCCGTAAAGAGAACCTAACACGGCTGTTTGAGAAGATGCAGGCTTATCAGTATGAACAGATCTCTGCTGACCCTGACAAACCTCTTGCTGATGGCATCCGGGCTCTGGACACCACTGACATGGAGAG___GCTCAAGGATGTCCAATCAATGGATGAGCTGAAAGATGTCTACAACCATTTTCTTCTTTATTATGGCCGAGACATCCCTAAGATGCAGAACGCCGCCAAAGCTAGCCGCAAGAAGCTGAAGCGTGTCAGGGAAGAGGGAGATGAAGAAG___GTGAAGGTGACGAGGCAGAAGATGAGGAGCAGAGGGGGCCTGAGCTCAAGCAAGCCTCTCGCCGAGACATGTACACCATCTGCCAGAGTGCTGGGCTAG___ATGGCCTGGCCAAAAAGTTTGGGCTTACTCCCGAGCAGTTTGGGGAGAACCTGCGGGATAGCTACCAGCGGCACGAGACAGAGCAGTTTCCCGCGGAGCCCTTGGAGCTGGCCAAGGATTACGTTTGCAG___CCAGTTCCCTACTCCAGAAGCTGTGCTAGAAGGCGCCCGCTACATGGTAGCCCTGCAGATTGCCCGTGAGCCCCTTGTCCGGCAGGTGCTGAGGCAAACCTTCCAAGAGAGAGCCAAGTTAAATATAACCCCCACCAAGAAAGGTAGAAAG___GATGTGGATGAGGCCCACTATGCCTATTCCTTCAAGTATTTAAAGAACAAGCCTGTTAAGGAACTGAGAGATGACCAGTTTCTCAAGATATGCCTGGCTGAAGACGAAGGGCTCCTCACCACTGACATCAGCATAGATTTGAAGGGAGTGGAAGG___CTATGGCAACGACCAGACATATTTTGAGGAGATAAAACAGTTTTACTACCGAGATGAGTTCAGCCACCAGGTGCAGGAGTGGAACCGGCAGCGCACCATGGCCATCGAACGGGCTTTACAGCAGTTCCTCTATGTGCAGATGGCCAAAGAACTCAAGAACAAGCTGCTGGCTGAAGCCAAGGAATATGTCATAAAG___GCCTGTAGTCGAAAGCTCTACAATTGGTTGAGAGTGGCACCCTACCGACCAGATCAGCAGGTGGAAGAAGATGACGACTTTATGGACGAGAACCAAGGGAAGGGCATTCGAGTCCTCGGCATTGCTTTCTCCTCTGCCAG___AGATCACCCTGTGTTCTGCGCCCTGGTCAATGGTGAAGGAGAAGTGACAGACTTCCTTCGACTGCCCCATTTTACCAAACGGCGAACTGCATGGAGAGAGGAAGAGCGGGAAAAGAAG___GCTCAAGACATTGAAACGCTAAAGAAATTTCTCCTGAATAAGAAGCCTCATGTAGTGACAGTTGCAGGAGAGAACAG___GGACGCCCAGATGTTGATTGAAGATGTGAAGCGCATTGTACATGAGCTGGACCAGGGCCAGCAGCTGTCATCTATTGGGGTAGAGCTGGTTGACAACGAGTTGGCCATTCTCTATATGAACAGCAAGAAGTCAGAG___GCAGAGTTCCGGGATTATCCTCCAGTGCTGAGACAGGCCGTCTCCCTGGCCCGGCGCATCCAGGACCCTCTGATTGAATTTGCCCAGGTGTGCAGTTCCGATGAAGACATCCTGTGTCTCAAGTTTCACCCCTTGCAG___GAGCATGTGGTGAAAGAGGAGCTGCTCAACGCCTTGTACTGTGAATTTATCAACCGAGTCAATGAGGTCGGGGTCGATGTCAACCGTGCCATTGCCCACCCTTACAGCCAGGCCTTGATCCAGTATGTTTGTGGCCTGGGACCTCGGAAAGGGACCCACCTCCTGAAG___ATCCTGAAGCAGAACAACACCCGGCTCGAGAGCCGGACCCAGCTGGTCACCATGTGCCACATGGGTCCCAAAGTCTTCATGAATTGTGCTGGCTTCCTCAAGATCGACACGGCCTCCCTGGGGGACAG___CACTGACTCATATATTGAAGTCCTTGATGGTTCCCGTGTCCACCCTGAGACTTATGAGTGGGCTAGGAAGATGGCAGTGGATGCCCTGGAATACGATGAATCAGCCGAGGATGCCAATCCTGCAGGAGCCCTTGAAGAAATCTTGGAAAACCCAGAGCGACTGAAAGACCTGGACCTTGATGCCTTTGCAGAAGAGCTGGAGAGGCAG___GGCTATGGTGACAAACACATCACACTCTATGACATCCGGGCAGAGCTGAGCTGTCGATATAAGGACCTCCGGACAGCCTACCGCTCTCCCAACACAGAGGAGATCTTCAATATGTTAACCAAAGAAACAC)CAGAGACCTTCTACATTG___GAAAGCTCATCATCTGCAATGTCACTGGCATTGCCCACAGGCGTCCCCAGGGTGAGAGCTATGACCAGGCGATCCGCAATGATGAGACAGGGCTGTGGCAGTGCCCCTTCTGTCAGCAGGACAATTTCCCTGAACTAAGCGAG|GAAGAAGAGAATGCACCAAACAAAATAAGGTCCTATTCTCAACAAAGGCAATTTTTTTCACTGGACTTCATCCATATTCAACCTCTCTCTGCTTGCCAGTGTACCCAAATCACTAACTTTATATTACTCCCAAATGAAACCCATAAAAACTGTTTCCTGGCTAACAATCTTAACATGGCAAGGTCTATTGGCACCCAACCTCTAATAAATAGTAGAC MSDFVESEAEESEEEYNDEGEVVPRVTKKFVEEEDDDEEEEEENLDDQDEQGNLKGFINDDDDEDEGEEDEGSDSGDSEDDVGHKKRKRTSFDDRLEDDDFDLIEENLGVKVKRGQKYRRVKKMSDDEDDDEEEYGKEEHEKEAIAEEIFQDGEGEEGQEAMEAPMAPPEEEEEDDEESDIDDFIVDDDGQPLKKPKWRKKLPGYTDAALQEAQEIFGVDFDYDEFEKYNEYDEELEEEYEYEDDEAEGEIRVRPKKTTKKRVSRRSIFEMYEPSELESSHLTDQDNEIRATDLPERFQLRSIPVKGAEDDELEEEADWIYRNAFATPTISLQESCDYLDRGQPASSFSRKGPSTIQKIKEALGFMRNQHFEVPFIAFYRKEYVEPELHINDLWRVWQWDEKWTQLRIRKENLTRLFEKMQAYQYEQISADPDKPLADGIRALDTTDMERLKDVQSMDELKDVYNHFLLYYGRDIPKMQNAAKASRKKLKRVREEGDEEGEGDEAEDEEQRGPELKQASRRDMYTICQSAGLDGLAKKFGLTPEQFGENLRDSYQRHETEQFPAEPLELAKDYVCSQFPTPEAVLEGARYMVALQIAREPLVRQVLRQTFQERAKLNITPTKKGRKDVDEAHYAYSFKYLKNKPVKELRDDQFLKICLAEDEGLLTTDISIDLKGVEGYGNDQTYFEEIKQFYYRDEFSHQVQEWNRQRTMAIERALQQFLYVQMAKELKNKLLAEAKEYVIKACSRKLYNWLRVAPYRPDQQVEEDDDFMDENQGKGIRVLGIAFSSARDHPVFCALVNGEGEVTDFLRLPHFTKRRTAWREEEREKKAQDIETLKKFLLNKKPHVVTVAGENRDAQMLIEDVKRIVHELDQGQQLSSIGVELVDNELAILYMNSKKSEAEFRDYPPVLRQAVSLARRIQDPLIEFAQVCSSDEDILCLKFHPLQEHVVKEELLNALYCEFINRVNEVGVDVNRAIAHPYSQALIQYVCGLGPRKGTHLLKILKQNNTRLESRTQLVTMCHMGPKVFMNCAGFLKIDTASLGDSTDSYIEVLDGSRVHPETYEWARKMAVDALEYDESAEDANPAGALEEILENPERLKDLDLDAFAEELERQGYGDKHITLYDIRAELSCRYKDLRTAYRSPNTEEIFNMLTKETPETFYIGKLIICNVTGIAHRRPQGESYDQAIRNDETGLWQCPFCQQDNFPELSE|eeenapnkirsysqqrqffsldfihiqplsacqctqitnfillpnethkncflannlnmarsigtqplinsr 11BR060 ENSG00000108175.17 ENSG00000122870.12 +/+ +/+ chr10:79216274 chr10:58702074 CDS/splice-site CDS/splice-site duplication 6 9 0 71 42 high out-of-frame . |KH_domain(100%),SAM_domain_(Sterile_alpha_motif)(100%) . . ENSG00000108175.17 ENSG00000122870.12 ENST00000334512.10 ENST00000373886.8 downstream upstream . ^(ACTTACTCACCCCCTAACGCCGAGTTCCTTTTCACTGTCTGTGGACATTAAAAAAGCGAGCGGCGGCGGCGGGCGCCGGGGAGAGCGGGCGGCCGGGCGGCAGGCGGGCGAGCAGCGATCGGGCGGCCGAGCGAGCGAGCAACGCCGGCGCAGCGCGGTGACCCCAGCCCCAGCCGGCGCGGAGCAGGAGCCGGAGCCGAGCGGATCTCGGCGCCCTCGCTGCGCTCCTCCCGGCCCGAGCCTGCCCTACCCGGCGGTGGCGGCGGCGCGTCCTCCAGCGGCGGCAGCGGCGCTCGCAGCGCCCG___GACTCACGGCAGCTGTGTTCTGATTTCGTACTACTGCTGGGGCTGCCACCTCCTCCTCCAGACGCTCTCAGCAGACTTGAGTCCTGGTCCTTCTGCAGAGGCCTGAGCAG___GAGGAAGAGGAGGAGGCCCGTTGGCGTCGGACCAATGCTGCAAGGGGTGTGAGGAGAGGAGCCGCTGTTTTTCACTGAGCTGCCATACCCCGAAAG___CAGGATGGAGCTGGAGTGAGGTGGAGGGGCCGCAAGCTGCTGACCGGCGTGTGGAACACTGGTGGTTTGCAGATCACTGAG___GCTGGACAACGTTCATGGCTCTCGGGTAGAACCTAGTGAAACGGCCAGAATGAATTCTATGGACAGGCACATCCAGCAGACCAATGACCGACTGCAGTGCATCAAGCAG___)CACTTACAGAcTCCTGCCAACTTCCACAATGCCGCCACGGAGCTGCTGGACTGGTGCGGAGACCCACGGGCCTTCCAGCGGCCCTTCGAGCAGAGCCTGATGGGCTGTTTGACG___GTGGTCAGTCGGGTGGCAGCCCAGCAAGGCTTTGACCTGGACCTCGGCTACAGACTGCTGGCTGTGTGTGCTGCAAACCGAGACAAGTTCACCCCGAAGTCTGCCG|ATCATGGAGGAAACAAATACGCAGATTGCTTGGCCATCAAAACTGAAGATCGGAGCCAAATCCAAGAAAG___ATCCCCATATTAAGGTTTCTGGAAAGAAAGAAGATGTTAAAGAAGCCAAGGAAATGATCATGTCTGTCTTAGACACAAAA___AGCAATCGAGTCACACTGAAGATGGATGTTTCACATACAGAACATTCACATGTAATCGGCAAAGGTGGCAACAATATTAAAAAAGTGATGGAAGAAACCGGATGCCATATCCACTTTCCAGATTCCAACAGGAATAACCAAG(CAGAAAAAAGCAACCAG___GTATCTATAGCGGGACAACCAGCAGGAGTAGAATCTGCCCGAGTTAGAATTCGG___GAGCTGCTTCCTTTGGTGCTGATGTTTGAGCTACCAATTGCTGGAATTCTTCAACCGGTTCCTGATCCTAATTCCCCCTCTATTCAGCATATATCACAAACGTACAATATTTCAGTATCATTTAAACAGCGTTCCCGAATGTATGGTGCTACTGTCATAGTACGAGGGTCTCAGAATAACACTAGTGCTGTGAAG___GAAGGAACTGCCATGCTGTTAGAACATCTTGCTGGGAGCTTAGCATCAGCTATTCCTGTGAGCACACAACTAGATATTGCAGCTCAACATCATCTCTTTATGATGGGTCGAAATGGGAGCAACATCAAACATATCATGCAGAGAACAGGTGCTCAGATCCACTTTCCTGATCCCAGTAATCCACAAAAGAAATCTACCGTCTACCTCCAGGGCACCATTGAGTCTGTCTGTCTTGCAAGGCAATATCTCATG___GGTTGTCTTCCTCTTGTGTTGATGTTTGATATGAAGGAAGAAATTGAAGTAGATCCACAATTCATTGCGCAGTTGATGGAACAGCTTGATGTCTTCATCAGTATTAAACCAAAGCCCAAACAGCCAAGCAAG___TCTGTGATTGTGAAAAGTGTTGAGCGAAATGCCTTAAATATGTATGAAGCAAGGAAATGTCTCCTCGGACTTGAAAGCAGTGGGGTTACCATAGCAACCAGTCCATCCCCAGCATCCTGCCCTGCCGGCCTGGCATGTCCCAGCCTGGATATCTTAGCTTCAGCAGGCCTTGGACTCACTGGACTAG___GTCTTTTGGGACCCACCACCTTATCTCTGAACACTTCAACAACCCCAAACTCACTCTTGAATGCTCTTAATAGCTCAGTCAGTCCTTTGCAAAGTCCAAGTTCTGGTACACCCAGCCCCACATTATGGGCACCCCCACTTGCTAATACTTCAAGTGCCACAG___GTTTTTCTGCTATACCACACCTTATGATTCCATCTACTGCCCAAGCCACATTAACTAATATTTTGTTGTCTGGAGTGCCCACCTATGGGCACACAGCTCCATCTCCCCCTCCTGGCTTGACTCCTGTTGATGTCCATATCAACAGTATGCAGACCGAAGGCAAAAAAATCTCTGCTGCTTTAAATGGACATGCACAG___TCTCCAGATATAAAATATGGTGCAATATCCACTTCATCACTTGGAGAAAAAGTGCTGAGTGCAAATCACGGGGATCCGTCCATCCAGACAAGTGGGTCTGAGCAGACATCTCCCAAATCAAGCCCCACTGAAG___GTTGTAATGATGCTTTTGTTGAAGTAGGCATGCCTCGAAGTCCTTCCCATTCTGGGAATGCTGGTGACTTGAAACAGATGATGTGTCCCTCCAAGGTTTCCTGTGCCAAAAGGCAGACAGTGGAACTATTGCAAGGCACGAAAAACTCACACTTACA___CAGCACTGACAGGTTGCTCTCAGACCCTGAACTGAGTGCTACCGAAAGCCCTTTGGCTGACAAGAAGGCTCCAGGGAGTGAGCGCGCTGCAGAGAGGGCAGCAGCTGCCCAGCAAAACTCCGAAAGGGCCCACCTTGCTCCACGGTCATCATATGTCAACATGCAG___GCATTTGACTATGAACAGAAGAAGCTATTAGCCACCAAAG___CTATGTTAAAGAAACCAGTGGTGACGGAGGTCAGAACGCCCACAAATACCTGGAGTGGCCTGGGTTTTTCTAAATCCATGCCAGCTGAAACTATCAAGGAGTTGAGAAGGGCCAATCATGTGTCCTATAAGCCCACAATGACAACCACTTATGAG___GGCTCATCCATGTCCCTTTCACGGTCCAACAGTCGTGAGCACTTGGGAGGTGGAAGCGAATCTGATAACTGGAGAGACCGAAATGGAATTGGACCTGGAAGTCATAGTGAATTTGCAGCTTCTATTGGCAGCCCTAAGCGTAAACAAAACAAATCAA___CGGAACACTATCTCAGCAGTAGCAATTACATGGACTGCATTTCCTCGCTGACAGGAAGCAATGGCTGTAACTTAAATAGCTCTTTCAAAGGTTCTGACCTCCCTGAGCTCTTCAGCAAACTGGGCCTGGGCAAATACACAGATGTTTTCCAGCAACAAGAG___ATCGATCTTCAGACATTCCTCACTCTCACAGATCAGGATCTGAAGGAGCTGGGAATAACTACTTTTGGTGCCAGGAGGAAAATGCTGCTTGCAATTTCAG___AACTAAATAAAAACCGAAGAAAGCTTTTTGAATCGCCAAATGCACGCACCTCTTTCCTGGAAGGTGGAGCGAGTGGAAGGCTACCCCGTCAGTATCACTCAGACATTGCTAGTGTCAGTGGCCGCTGGTAGCAGCACCCTCTTGGCACATGCCCGCTGACTAACTGTAAAGTGGACACAGGAGATGTATGAACAGCCTTCACAGCACACCATCCTTAGCACTCTGGGTGTCTGGTATCAGGACCAAAGCATTTTATTCGCACCTGTACTTTATGGCAAAAAGGAAGAAGAGAGAGAAGATGTTCTTATGATGTCATACAGAACACCAAATATGGATTACTTTTTTAAAATGGCAGTTGGACAGAATTTGCAATATAAGGATAGGGCTTTATTTCCTGTTTTTATTTACCTATATAACATATGCACTGATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACTTAAAATGAAGGATGAATTGACATCTGGGATGCCAGAAGACTTAGAAGTTATTTTGTTTGCTTGTTTTGTTTGGGTATTTGGGGATTTTTAAAAAATAATCAAAGTGGAATTTTCTGGTACTGCTTTAAAATAATTATTGTGGTCTTTCAGCACTTTACACGTTCTAATTTCTTGTCCTATGGAAGTTCTCGCTGTCTCCATCTCTCTCATTTTTGTGTCACCTAATATGTTGGTACAGATAAGAGTTAGTCACATTTTTCTGACTGCATCAAACTTTTATTTGAAATGGTACTGGATCTTAGTTTCTGTGCAGAATATTCTGTGATTTTGGGAAATGTAAGTGAGTCCACTTGCTTCTGGACCAATTCTGTTTCATGTATGTTAGCATCCTAGAAACACCTAGCAATGGACCTAGTTCACAGTAATAGGTGCAAAGAAAGACCAAATGGACTTTGCAGTATTAACCCTTTGCAGTCGTCATACTTAGCTGCTGCCTGTAATGCTAAAATGATTTTAATGGTTGTCTGGAGGCAAAGGGCTGTTTTTTAGTATATTGCCACTAAAGGACATTTATTTATATCAAACTTTTATTTTTAGATATTATAAGCATACAGTACATAATTGATGAAATTGATATTTACTAGAGATTTATGGTAGAGAATGGACGACATTCAATAACTGGAGCCCGAGATTGTCACTTTATTTAAAAAGACAAATAATCATCTGACAAGACAGCACTGTTGCCATTATAAGGAGAAATAGATTACAATCCTTATCATGTACACGTTAGCTATGTTCCGTATGGCCACAGGACTTTCCTGAAACCGTATCTGTCTGCTTGAAGTAGACTTATGTTTGTTGAGAATGAACAGGCTTATTTGAGCCTCCAGGGTGGCAGTTCATAAAGACAGCTAAGTTCTGAAGGAAAAAAAAAATATATCTTTTTAAGTGGCTAGAGTCATTATTACAATCTTATACTGTGAAAGTCCAAGAAATCAGGCAACATTGTTTCCTGGGTCTTTTCAGAGATCTTATAGATTTATGAAGTGTTTTTAATCCATGAAGAAACACTAAAGTGCCTTTCTTTCTTCAAAGCAATATTATTTCCAAGTATATTAATTTGTTAGAAAACTTTCCCATAGGAAATGTTGTCAAGTTACCTGTACTGTAAAGAGTTATTTATGTTCAGTAGTCAAGATTTTCTACATGGACATAAACCACTCTCACGTGCTCTCAGCAGAAGGCATTAGATAAGCATATACAAGAATTGGGTACTTTTATACAAATATGGGATAAGAAATACTTGCCTGACACTTTTCCATGGCTGAGTCTGACCATTACAGTAAGAACAAGAATTGAAGAGGCATTTTGCACACAGAAACATTCTCACTTTAAAAAATGGTATTGGTTACCTTGAAGGCATAGATAATGGGCCTGTCATAAAATTATCAATTATAACTGGCACCGAGGGACTGCCCTTTTTAAGCTAAACTAAGCCTTATCTGCTTAAGGATGTTGAACTGAATCACTCCCTTTACTCATCCTGTGCATATGTGTACAAATGGTCATGTGGATCATGTGATGATCATCCATCTTATTTGATTGTATTAATGCATCATGCTAAACATGTAGTACAGGTTAACAATACCAGATTTATGTCCTGTTCAACAACTCAGTACTCTAAATGTTGTTATGCTTTTAATAAGACCTTCCCAGATAATAATCTTGGAGCTCTTTTCCCAGCTGTCTACCATGCATTTGCAACAGGAGGAAGATGTAATGAATATGCAGTATTAAGTTGATTTATGAACAGTGCTTTGATATGCCAAAGGGAAAACTGTCCCACTTAAATTAGATTAAGTAGGGTGGCTAAAAATAAATAAAAACACTGGAAATTCTTTCTCTCACTTTCTCTTGATGCAATGAAGGGAATATGACACTACAGTATACAGAGTTGTTGTTATATGATGCACAAAATATTTTGATGATTTGAATAAATGTTAACTTTTAATCTGCGCCTTAATAATGACTGGTTATCTGTAAATATAGAACAGATACAGATTGTATTTTTCTGTGGGTTTTTGTCCTTTTAGTGATTTTTTTCCAAAAACGAGAGATGGAATTAACATTGAAAATGGGAAATTTTTCTAACTGAATCAATTGTTACATGAAAAATAAATTTATATAACCCCTTTGTATTGCTCTTGCTA)$ MNSMDRHIQQTNDRLQCIKQHLQtPANFHNAATELLDWCGDPRAFQRPFEQSLMGCLTVVSRVAAQQGFDLDLGYRLLAVCAANRDKFTPKSA|dhggnkyadclaiktedrsqiqerspy* 11BR060 ENSG00000163608.15 ENSG00000279311.1(44370),ENSG00000283154.2(153073) -/- ./- chr3:113019542 chr3:158916191 CDS/splice-site intergenic duplication 9 5 0 58 19 high out-of-frame . . . . ENSG00000163608.15 . ENST00000383675.6 . upstream downstream duplicates(1) ^(GGCCCGGACTGGGTCCCATCGCCCCACCTCCGGTCGC)TGGACGTGCTCTCGCGTAGCTCCGCCTTTCGTAAGTCCCCCCGCCTCGCATGATGGCTGCGGTGCCGCCGGGCCTGGAGCCGTGGAACCGTGTGAGAATCCCTAAGGCGGGGAACCGCAGCGCAGTGACAGTGCAGAACCCCGGCGCGGCCCTTG|CTCAATAGGTTACCAGCATTTGCACCAGACATCCTGTGTGACAGCCAAGCCCACCCAAGGTGAGGAAATCTGGAGAGACcTTCAACTGGGTCCCATGTGGAAGATCAGTCAGTGCCATTTTGGTTCCTGCGGATGG___GCACCCTTCTAGGTGGCAGATGGAAGCAACATAAAGGAAAACAAAAGAGTTGGAGGGAAAGAAATAGACGATTGGAGCATCTGGATTCAACTATACCTCAAGTTAGATTAACCCCTGG MMAAVPPGLEPWNRVRIPKAGNRSAVTVQNPGAAL|aq* 11BR060 ENSG00000139163.16 ENSG00000023697.13 +/+ +/+ chr12:22673660 chr12:16032542 CDS/splice-site CDS/splice-site duplication 2 12 0 167 157 high out-of-frame . Choline/ethanolamine_kinase(100%)|DeoC/LacD_family_aldolase(100%) . . ENSG00000139163.16 ENSG00000023697.13 ENST00000266517.9 ENST00000428559.7 downstream upstream . ^(GCGGCCGCCCGCGGTCCAGCTCCGACAACAGGAATTTTCTCCGAGAGCGGGCCGGGCTCAGTTCAGCTGCTGTCCAGACCCGGATCGGCAACAGTGCCGCCTCCAGACGTTCTCCTGCCGCTCGCCCGCCCGTCCCAGCGCCCCCAGCCCTCCCGCGAGGGCGCCCCGGGACGGAAGGATCCACCAGTCTGTCGGCGCCCGCCGTTCTCGTGGTCGCCGTCGCCGTCGTCGTGGTGGTAGTCTCCGCCGTCGCCTGGGCCATGGCCAATTACATCCACGTCCCTCCCGGCTCCCCGGAGGTGCCCAAGCTGAACGTCACCGTTCAGGATCAGGAGGAGCATCGCTGCCGGGAGGGGGCCCTGAGCCTCCTGCAACACCTGCGGCCTCACTGGGACCCCCAGGAGGTGACCCTGCAG___CTCTTCACAGATGGAATCACAAATAAACTTATTGGCTGTTACGTGGGAAACACCATGGAGGATGTAGTCCTGGTGAGAATTTATGGCAATAAGACTGAGTTATTAGTCGATCGAGATGAGGAAGTAAAGAGTTTTCGAGTGTTGCAGGCTCATGGGTGTGCACCACAACTCTACTGTACCTTCAATAATGGACTATGCTATGAATTTATACAAGGAGAAGCACTGGATCCAAAGCATGTCTGCAACCCAGCCATTTTCAG___GCTAATAGCTCGTCAGCTTGCTAAAATCCATGCTATTCATGCACACAATGGCTGGATCCCCAAATCTAATCTTTGGCTAAAGATGGGAAAGTATTTCTCTCTCATTCCCACAGGATTTGCAGATGAAGACATTAATAAAAG___GTTCCTAAGTGATATCCCAAGCTCTCAGATTCTCCAGGAAGAGATGACTTGGATGAAGGAGATTCTTTCCAACCTGGGCTCACCTGTTGTGCTTTGCCATAATGACCTATTGTGTAAGAATATAATCTACAATGAGAAACAAG___GTGATGTACAGTTCATTGATTATGAATATTCTGGATACAACTACCTGGCATATGATATTGGAAATCATTTCA)ATGAATTTGCAG___GTGTGAGTGATGTAGACTATAGTCTGTATCCAGATAGAGAACTACAGAGTCAGTGGCTGCGTGCTTACCTTGAAGCCTACAAAGAATTTAAGGGCTTTGGGACTGAAGTTACTGAAAAGGAGGTAGAAATACTCTTCATTCAAGTCAATCAGTTTGCATTG|GATCAGATTTTATTAAGACCTCTACTGGAAAAGAAACAGTAAATGCCACCTTCCCGGTAGCTATAGTAATGCTGCGGGCCATTAGAGATTTCTTCTGGAAAACTGGAAACAAG(___ATAGGGTTTAAACCAGCAGGAGGCATCCGCAGTGCAAAGGATTCCCTTGCTTGGCTCTCTCTTGTAAAGGAGGAGCTTGGAGATGAGTGGCTGAAGCCAGAACTCTTTCGAATAGGTGCCAGTACTCTGCTCTCGGACATTGAGAGGCAG___ATTTACCATCATGTGACTGGAAGATATGCAGCTTATCATGATCTTCCAATGTCTTAAATCAGTCACCAGTTCCAGAAAAGTTCTTTACGACAATGTTTAAAAATTATTTTTCTACGTAATTGCTAAAATTATTTAATTAAAAAATTGGGCAGTAGGTAACTGGCATTCCTCTCTTTAAAATTTCTACCGAACTTAATGGAATGGAAAAAGCAAACTCATCCACATGTGGTACTCATTTCAGGCACATCTGAAATGATCTTAATTACTAGAAGATCTGCACTATTAACTTTGTGAAGAGTTTCTCCTAAAAACTTTAAGTAAAATGTTAATGGTAGCTTTGATAACATCAAATTCTAAGGGAGAAAAAAACAATATTAAACCGCCCAAGCAGTGTGCCCTAGCAGAGGAAAATGCAACATCTCGCAAGCGCTGCTGTAACGACTTCAGGAGTCACTGATTCAGCACTAATTTCCTGCTGTGAAAACTCATCTTTCATTTTTGCCGTGGATAGGCGCTTTTATTAATTGTTGTCCTAATGAAATTTCTGACATTGTCATATACAACGATGAATATCATTAAAATTTTTAAAATAATAAAGTTCCTATAGTTTATTTTTTTAAAAAACTTAAAAATTGTTACAATACATAATGAAAAAATAATCCATTAAACATAAAAAGAGGTTTGATCAGTGA)$ MANYIHVPPGSPEVPKLNVTVQDQEEHRCREGALSLLQHLRPHWDPQEVTLQLFTDGITNKLIGCYVGNTMEDVVLVRIYGNKTELLVDRDEEVKSFRVLQAHGCAPQLYCTFNNGLCYEFIQGEALDPKHVCNPAIFRLIARQLAKIHAIHAHNGWIPKSNLWLKMGKYFSLIPTGFADEDINKRFLSDIPSSQILQEEMTWMKEILSNLGSPVVLCHNDLLCKNIIYNEKQGDVQFIDYEYSGYNYLAYDIGNHFNEFAGVSDVDYSLYPDRELQSQWLRAYLEAYKEFKGFGTEVTEKEVEILFIQVNQFAL|dqillrpllekkq* 11BR060 ENSG00000151150.22 ENSG00000171988.19 -/- -/- chr10:60134271 chr10:63380482 CDS/splice-site CDS/splice-site duplication 7 6 0 163 17 high in-frame . Ankyrin_repeat(100%),Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%)|JmjC_domain__hydroxylase(100%) . . ENSG00000151150.22 ENSG00000171988.19 ENST00000373827.6 ENST00000399262.7 upstream downstream . ^(ACAGCAGGAGGAGGATAGGCCGCGCTGGGCGGGCGTCGCGGGGCCGCGCTTGGTGTTCCTGAGCCGCGGCCGAACTTTTTCCCAAGAAGTCCCACGTTTGGAGGCCCGAGGAGCGGGACGGGGAGGAGAGACTGGAGTTCCTGGAAGGAGCAGCAGCAGCAGCCCCACAACATGGCCTCCTCCGCCTCCTCCTCTCCCGCGGGCACCGAGGACTCCGCTCCTGCCCAG___GGTGGCTTTGGATCAGATTATTCACGAAGCTCTAGAAAG___TCTGATGCCAATGCAAGTTACTTAAGAGCAGCTCGAGCTGGACACCTTGAAAAGGCCCTCGACTACATAAAAAATGGAGTTGACATCAACATTTGCAATCAG___AATGGGTTGAACGCTCTCCACCTTGCTTCCAAAGAAGGCCATGTAGAGGTTGTTTCTGAGCTGCTGCAGAGAGAAGCCAATGTGGATGCAGCTACAAAG___AAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAG___AATGGTTTCACGCCATTGTATATGGCAGCCCAGGAAAATCACCTGGAAGTTGTCAAGTTTCTTCTTGACAATGGTGCAAGCCAGAGCCTAGCCACAGAG___GATGGCTTCACACCATTGGCAGTGGCTTTGCAACAAGGTCACGACCAAGTCGTTTCGCTCCTGCTAGAGAATGACACCAAAGGAAAAGTGCGTCTCCCAGCTCTTCATATCGCGGCCCGAAAAGACGACACGAAAGCCGCCGCCCTGCTGCTGCAGAATGACAACAATGCAGATGTGGAATCAAAG___AGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGG___AATGACATCACTCCTTTACATGTTGCATCAAAAAGAGGAAATGCAAATATGGTAAAACTATTGCTCGATCGAGGAGCTAAAATCGATGCCAAAACCAGG___GATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAG___AATGGATTATCTCCATTGCACATGGCCACACAAGGGGATCATTTAAACTGCGTCCAGCTTCTCCTCCAGCATAATGTACCCGTGGATGATGTCACCAATGACTACCTGACTGCCCTACACGTGGCTGCCCACTGTGGCCATTACAAAGTTGCCAAGGTTCTCTTGGATAAGAAAGCTAACCCCAATGCCAAAGCCCTG___AATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAG___TCGGGCCTTACCCCAATCCATGTTGCTGCCTTCATGGGGCATGTAAATATTGTATCACAACTAATGCATCATGGAGCCTCACCAAACACCACCAATGTG___AGAGGAGAAACAGCACTGCACATGGCAGCTCGCTCCGGCCAAGCTGAAGTTGTGCGGTATCTGGTACAAGACGGAGCTCAGGTAGAAGCTAAAGCTAAG___GATGACCAAACACCACTCCACATTTCAGCCCGACTGGGGAAAGCAGACATAGTACAACAGCTGTTGCAGCAAGGGGCATCTCCAAATGCAGCCACAACTTCTGGGTACACCCCACTTCACCTTTCCGCCCGAGAGGGGCATGAGGATGTGGCCGCGTTCCTTTTGGATCATGGAGCGTCTTTATCTATAACAACAAAG___AAAGGATTTACTCCTCTTCATGTGGCAGCAAAATATGGAAAGCTTGAAGTCGCCAATCTCCTGCTACAGAAAAGTGCATCTCCAGATGCTGCTGGGAAG___AGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAG___AATGGTTATACGCCACTGCACATCGCTGCCAAAAAGAACCAGATGGACATAGCGACAACTCTGCTGGAATATGGTGCTGATGCCAACGCAGTTACCCGGCAAGGAATTGCTTCCGTCCATCTCGCAGCTCAGGAAGGGCACGTGGACATGGTGTCGCTGCTCCTCGGTAGAAATGCGAATGTGAACCTGAGCAATAAG___AGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAG___ATGGGATACACACCACTGCATGTGGGCTGCCACTATGGAAATATCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAG___AATGGGTATACGCCATTACATCAAGCAGCACAGCAGGGGCATACGCATATAATAAATGTCTTACTTCAGAACAACGCCTCCCCCAATGAACTCACTGTG___AATGGGAATACTGCCCTTGGCATTGCCCGGCGCCTCGGCTACATCTCAGTAGTGGACACCCTGAAGATAGTGACCGAAGAGACCATGACCACAACT___ACTGTCACAGAGAAGCACAAAATGAATGTTCCAGAAACGATGAATGAAGTTCTTGATATGTCTGATGATGAAG___TTCGTAAAGCCAATGCCCCTGAAATGCTCAGTGATGGCGAATATATCTCAGATGTTGAAGAAG___GTGAAGATGCAATGACCGGGGACACAGACAAATATCTTGGGCCACAGGACCTTAAGGAATTGGGTGATGATTCCCTGCCTGCAGAGGGTTACATGGGCTTTAGTCTCGGAGCGCGTTCTGCCAG___)CCTCCGCTCCTTCAGTTCGGATAGGTCTTACACCTTGAACAGAAGCTCCTATGCACGGGACAGCATGATGATTGAAGAACTCCTTGTGCCATCCAAAGAGCAG|GTGTATGTGGAATTTGATGATCTTGAATGGGATAAACGAGAGTGGGTTAAAGTTTATGAAGATTTTTCAACTTTCTTGGTGGAATACCACTTAATCTGGGCCAAAAGGAATGACCCTAGCCAGACTCAGGGATCAAAGAGCAAACAGATTCAGTGGCCTGCATTG___ACTTTCAAACCTCTGGTTGAAAGAAATAT(ACCCAGTTCAGTCACTGCAGTAGAATTCCTTGTAGATAAGCAACTGGATTTTTTAACTGAAGATAGTGCCTTTCAGCCCTACCAG___GACGACATAGACAGCCTAAACCCAGTTCTCAGGGACAACCCGCAGCTTCATGAGGAAGTGAAAGTCTGGGTAAAGGAACAAAAGGTTCAGGAGATTTTTATGCAAG___GTCCTTATTCCTTAAATGGATACAGAGTGAGAGTATATAGACAAGACTCTGCCACCCAGTGGTTTACTGGCATAATTACTCATCATGATCTCTTCACCCGCACCATGATCGTTATGAATGATCAG___GTACTAGAACCACAGAATGTCGATCCTTCTATGGTTCAAATGACCTTTCTAGATGATGTTGTTCACTCTTTGTTAAAAGGTGAAAATATTGGCATTACATCACGACGCAGGTCTCGTGCCAATCAAAACGTCAACGCTGTTCAC___AGCCATTATACACGTGCCCAAGCAAATAGTCCCAGACCAGCAATGAACTCCCAAGCTGCTGTACCAAAACAGAATACACACCAGCAACAGCAACAAAGAAGTATCCGTCCAAATAAGAGGAAGGGCTCAGATAGCAGTATACCAGATGAAGAGAAGATGAAGGAGGAAAAATATGATTATATATCACGAGGAG___AAAATCCTAAAGGTAAAAACAAACACTTGATGAATAAAAGAAGGAAACCTGAGGAGGATGAAAAGAAACTAAATATGAAAAGACTTCGAACTGACAATGTTTCAGACTTTTCTGAGAGCAGTGACTCAGAAAATTCAAATAAGAGAATAATAGATAATTCCTCAGAACAGAAGCCAGAGAATGAATTGAAAAATAAAAATACTTCAAAAATAAATGGAGAAGAAGGAAAACCCCATAATAATGAGAAGGCAGGAGAAGAGACCCTAAAAAATAGCCAGCCTCCCTGGGATCAAATACAGGAAGATAAAAAACATGAAGAAGCAGAGAAGCGGAAGTCTGTTGACACTCAGCTTCAAGAAGATATGATTATTCATTCGTCAGAACAGTCCACAGTTTCTGATCATAATTCTAATGATTTACTTCCTCAGGAATGCAATATGGATAAAACACATACCATGGAATTGCTACCAAAGGAGAAGTTTGTATCCAGACCACCCACACCAAAATGTGTTATTGATATTACAAATGACACTAATTTAGAAAAGGTGGCTCAGGAAAACTCAAGTACCTTTGGCCTTCAGACACTTCAGAAAATGGATCCTAATGTTAGTGATTCAAAACACTCTATTGCAAATGCAAAATTCTTGGAAACAGCAAAAAAAGATTCTGACCAGAGCTGGGTCAGTGATGTAGTTAAAGTGGATCTAACCCAATCAAGTGTTACAAATGCTTCTTCAGGAAATGATCACTTGAACATGGAAAAAGAGAAGTATGTCTCTTACATTTCTCCTTTAAGTGCAGTTTCTGTCATGGAAGATAAGCTGCATAAGCGAAGTCCACCTCCAGAGACTATAAAATCTAAACTTAATACTTCAGTAGATACTCACAAGATAAAATCCAGCCCATCACCTGAAGTTGTTAAACCCAAAATAACTCATTCTCCTGATTCTGTAAAGTCTAAGGCCACTTATGTGAACAGCCAAGCTACTGGTGAAAGAAGATTGGCAAATAAGATAGAACATGAGCTATCAAGATGCAGTTTTCATCCAATTCCTACTCGAAGCAGTACATTAGAAACTACAAAGAGTCCTCTTATCATTGATAAAAATGAGCATTTTACAGTTTACAGAGATCCTGCACTTATTGGGTCAGAAACAGGAGCTAATCATATTTCACCTTTCCTAAGCCAGCATCCTTTTCCTCTTCACTCCTCATCTCATAGAACCTGTTTAAATCCAGGTACCCATCATCCTGCCTTAACTCCTGCACCCCATTTACTAGCCGGATCATCTAGTCAAACTCCATTACCTACCATTAACACTCATCCTCTGACTAGTGGTCCACACCATGCTGTTCATCACCCTCATTTACTTCCCACTGTGTTACCTGGAGTGCCTACTGCCTCCTTACTTGGTGGCCACCCACGACTAGAGAGTGCTCATGCCAGCAGCTTGAGCCACTTAGCGCTAGCACACCAGCAACAACAACAGTTGTTACAGCACCAGTCACCTCATCTTCTTGGACAAGCCCATCCTTCTGCTTCATATAATCAGCTTGGACTTTATCCAATTATTTGGCAGTATCCAAATGGAACACATGCATACTCAGGACTTGGTTTGCCTTCTTCTAAGTGGGTTCACCCAGAAAATGCAGTTAATGCTGAAGCTTCATTAAGGAGG___AATTCTCCCAGTCCTTGGCTACATCAGCCCACCCCTGTGACCTCAGCAGATGGTATTGGATTACTTAGTCACATTCCTGTCAGACCTTCCAGTGCAGAGCCTCATCGGCCTCTTAAAATTACAGCCCATTCCAGTCCACCATTGACAAAAACTTTAGTAGATCATCATAAGGA___AGAATTAGAAAGAAAAGCTTTTATGGAACCATTACGGTCTGTTGCATCCACATCAGCCAAAAATGACCTGGATCTAAATAGGTCACAGACTGGAAAAGATTGTCACTTACATAGGCATTTTGTGGATCCAGTATTAAATCAGTTACAGAGGCCACCCCAGGAGACTGGAGAGAGGTTAAACAAATACAAAGAGGAACACCGTCGAATTCTTCAAGAAAGTATTGATGTTGCTCCCTTTACAACTAAAATCAAGGGACTTGAGGGTGAGAGAGAGAATTATTCCAGAGTGGCATCATCATCTTCCAGTCCTAAAAGCCATATCATCAAACAAGATATGGATGTAGAACGCTCAGTATCAGATCTTTATAAAATGAAGCACTCAGTGCCTCAGAGTTTACCCCAAAGTAACTATTTCACTACATTGTCTAATAGTGTGGTCAATGAACCACCAAGATCATACCCATCCAAAGAAGTTTCAAATATTTACGGTGATAAACAGAGTAATGCCCTTGCAGCGGCAGCAGCTAATCCTCAAACTCTGACTTCATTTATAACATCTCTTTCAAAGCCTCCACCTTTGATTAAACACCAACCAGAAAGTGAAGGTTTAGTAGGCAAGATACCAGAACATCTTCCACATCAGATTGCATCTCACTCAGTAACAACCTTCAGAAATGATTGTAGGAGTCCTACCCATTTGACAGTTTCTTCTACAAATACACTCCGCAGTATGCCTGCATTACATAGAGCACCAGTATTTCACCCACCAATCCATCACAGCCTGGAAAGAAAGGAAGGCAGCTATAGTAGTCTTTCCCCTCCAACTTTAACTCCGGTGATGCCAGTAAATGCTGGTGGTAAAGTTCAAGAATCACAGAAGCCTCCAACTCTAATACCCGAACCAAAAGACTCCCAGGCAAATTTTAAGAGTTCTTCAGAACAGAGTTTGACGGAGATGTGGAGACCTAATAATAACCTCAGCAAAGAGAAAACTGAATGGCATGTGGAGAAAAGCAGCGGAAAGTTACAGGCTGCTATGGCATCTGTCATTGTGCGTCCATCTTCTAGTACAAAAACTGATAGTATGCCAGCAATGCAGTTAGCTTCTAAAGATCGTGTTAGTGAAAGATCTTCAGCTGGGGCACATAAAACAGATTGCCTCAAACTAGCAGAAGCCGGAGAAACTGGAAGAATCATTTTGCCAAATGTGAATTCAGACAGTGTTCACACAAAATCTGAAAAAAACTTTCAGGCTGTCTCACAGGGCAGTGTTCCCAGTTCAGTCATGTCTGCTGTAAATACGATGTGTAATACCAAAACGGATGTAATCACATCTGCTGCCGATACTACCAGTGTTTCCAGCTGGGGTGGTTCAGAAGTAATTTCCTCTTTATCAAATACCATTTTGGCCTCTACATCATCAGAATGTGTATCTTCAAAAAGTGTCAGTCAGCCAGTGGCTCAAAAACAAGAATGCAAGGTCAGCACCACAGCACCAGTTACATTAGCCAGTAGTAAGACAGGAAGTGTTGTTCAACCCAGTTCTGGGTTCTCAGGCACAACTGATTTTATCCATTTAAAAAAGCACAAGGCAGCATTGGCTGCAGCTCAGTATAAAAGTAGTAATGCCAGTGAGACTGAACCTAATGCTATAAAAAATCAGACACTTTCAGCCTCCCTTCCTCTGGATAGCACTGTAATCTGTAGTACAATTAACAAAGCAAACTCTGTAGGAAATGGGCAAGCTTCCCAGACAAGTCAACCAAACTACCATACTAAACTGAAAAAGGCCTGGCTCACCAGACACTCAGAAGAAGATAAAAATACTAATAAAATGGAAAATTCAGGGAATTCTGTATCAGAAATTATTAAGCCATGTTCTGTCAACTTAATAGCCTCTACATCTAGTGATATACAAAATAGTGTAGATAGTAAGATCATAGTTGATAAATATGTAAAAGATGATAAAGTCAACAGGAGAAAAGCCAAAAGAACTTATGAATCTGGCTCTGAAAGTGGAGACTCAGATGAAAGTGAAAGCAAGTCAGAGCAAAGGACTAAAAGACAACCTAAGCCAACTTACAAAAAGAAGCAAAATGATTTGCAAAAGAGAAAAGGTGAAATAGAAGAAGATTTGAAACCCAATGGAGTTCTCAGCAGGAGTGCCAAAGAAAGAAGTAAACTGAAGTTGCAAAGCAACAGTAATA___CTGGCATTCCTCGTTCAGTATTGAAAGATTGGCGTAAAGTCAAGAAGCTGAAGCAAACTGGGGAATCCTTTTTACAGGATGACTCCTGCTGTGAGATAGGGCCTAATTTACAAAAGTGTCGAGAATGTAGACTTATTCGCAGTAAAAAAGGAGAAGAACCAGCTCACTCACCAGTATTTTGTAGATTTTACTACTTTAGACG___GTTGTCATTTAGTAAAAACGGAGTAGTTAGAATAGATGGTTTCTCTTCTCCTGACCAATATGATGATGAAGCTATGAGTTTGTGGACACATGAAAATTTTGAAGATGATGAACTAGATATAGAGACTTCTAAATATATCTTGGATATAATAGGTGATAAGTTCTGTCAATTAGTAACATCTGAAAAAACAGCTTTGTCCTGGGTGAAAAAGGATG___CCAAAATTGCCTGGAAAAGAGCAGTGAGAGGAGTCCGGGAGATGTGTGATGCATGTGAAGCAACATTGTTTAACATTCACTGGGTCTGCCAAAAATGTGGATTTGTGGTCTGCTTAGATTGTTACAAGGCAAAGGAAAGGAAGAGTTCTAGAG___ATAAAGAACTATATGCTTGGATGAAGTGTGTGAAGGGACAGCCTCATGATCACAAACATTTAATGCCAACCCAAATTATACCTGGTTCTG___TTTTGACAGATCTTCTAGATGCCATGCACACTCTTAGGGAAAAATATGGTATTAAATCCCATTGTCATTGTACTAACAAACAGAATTTACAAGTTGGAAATTTTCCTACAATGAATGGTGTATCTCAA___GTTTTACAGAATGTTCTTAATCACAGTAATAAAATTTCTCTGTGCATGCCTGAGTCTCAGCAGCAAAATACTCCTCCGAAGTCTGAGAAAAATGGTGGCAGCAGCCCAGAGAGTGATGTAGGCACAGATAACAAGTTAACTCCTCCAGAATCCCAGTCACCACTGCACTGGTTAGCAGATCTTGCAGAGCAAAAAGCCAGAGAGGAAAAAAAAG___AAAACAAAGAACTTACCCTTGAAAACCAAATTAAAGAAGAAAGAGAACAAGACAACTCTGAATCTCCAAATGGCAGAACATCACCTCTTGTGTCCCAGAATAATGAACAAGGCTCAACCTTACGGGATTTGCTGACTACAACAGCTGGAAAGCTACGTGTGGGGTCTACAGATGCTGGCATTGCCTTTGCCCCAGTATATTCAATGGGAGCCCCA___AGTAGCAAAAGTGGACGGACTATGCCTAACATTCTTGATGACATAATTGCTTCAGTTGTTGAAAACAAAATTCCACCAAGTAAAACCTCCAAGATAAATGTAAAACCAGAGCTTAAAGAAGAGCCTGAAGAAAGCATAATATCTGCAGTGGATGAAAATAATAAATTATACAGTGATATACCACATTCTTGGATCTGTGAGAAGCATATTTTATGGCTTAAGGATTATAAGAATAGCAGTAATTGGAAGCTTTTCAAAGAATGTTGGAAACAAGGACAG___CCTGCAGTGGTTTCTGGTGTGCATAAGAAAATGAACATTAGCCTATGGAAGGCGGAATCAATTAGTCTTGATTTTGGAGACCACCAAGCTGATCTCCTGAACTGCAAAGATAGCATCATTTCAAATGCCAATGTTAAGGAATTCTGGGATGGTTTTGAAGAAGTTTCAA___AACGGCAGAAAAACAAGAGTGGAGAAACAGTTGTTTTAAAATTGAAAGACTGGCCTTCAGGAGAAGACTTCAAGACTATGATGCCAGCAAG___ATACGAAGATCTTTTAAAAAGTCTGCCATTGCCAGAATATTGTAATCCAGAAGGAAAATTCAATTTGGCCTCTCATTTGCCAGGATTTTTTGTACGTCCTGATCTAGGACCCAGGTTGTGCAGTGCCTATG___GTGTAGTTGCTGCTAAAGATCATGATATAGGAACAACAAATCTCCATATTGAAGTTTCTGATGTTGTAAATATACTAGTTTATGTTGGCATAGCAAAAGGAAATGGCATTCTCTCAAAAGCAG___GAATTCTCAAGAAATTTGAGGAAGAAGATTTGGATGACATTTTAAGGAAAAGATTGAAGGACTCAAGTGAAATACCTGGTGCTCTGTGGCATATTTATGCTGGGAAAGATGTTGACAAGATAAGGGAATTTCTTCAAAAG___ATTTCAAAAGAACAAGGCCTTGAAGTTCTACCAGAACATGATCCAATACGTGACCAAAGTTGGTATGTGAACAAAAAGCTCCGTCAAAGGCTGCTTGAAGAATATGGAGTCAGAACCTGTACTCTTATTCAGTTCCTTGGTGATGCTATTGTTTTGCCAGCGGGAGCACTTCATCAG___GTTCAGAATTTTCACAGCTGTATTCAGGTAACTGAAGATTTTGTGTCTCCAGAACATCTTGTAGAGTCATTTCATTTAACACAGGAACTGAGACTTTTGAAGGAAGAAATCAATTATGATGATAAACTACAG___GTTAAAAATATTTTGTATCATGCAGTCAAAGAAATGGTGAGAGCCTTGAAGATACACGAGGATGAAGTAGAGGATATGGAAGAAAATTAAGTGTGATCCAGTTTGATATTTTTAGGTTGTTGAACTGGGATTACTTAACCTTGAATGATGATATGTATGCACACTGACTTTAAGCTTCATAAAACCATCAGTGCCAAGAAATTCTCTTTGTAGTAATTACTTGTTACTGACACCACAGCAGTATAGCATATGTCACAGCTCCTGTGATTCAATGTTATAAAACAAGCAGAATTTTAAAAGCAGCACTATATAGCTGTTTTGTATTATAGTGTATATGATGTTTGTGAAAATGCCAGATTTAAAATGATGTATTTATTTTTGGTAAAAAATAAAAAATTCTATGCTATATTGTTGATCAAGTGTAAATGTGACCTTGTACAGTTTACTAAAATTACTGATATTTTTCACTACATTGAGACAGTTACTGTGAGAATAGGACACAAACACCAGCTATTGCCTGCATCTGGGAAATTGCTGAATCGCACAGCAGTCATGTCATAATCAGAAAATTACTGCCAAATAATTGTAAAATTTGTAAAGTATAAAGTATATAAAGTAGATACTAAATACAGACACTTCAATATTTTGTTGAAGCTATTGACTGTACAATTAAACATTTTCAAAAGGTGTAATTTATTTAAAATTGTCTCATTTTGGTAAAATTTATGTGAACTTTTAAAGCTAAATATTAAACTTAATATGCTATGTAAATATATACATATATACATTTAATGATGTATTTTTTTAAAACATTGGCTTGCTTTTGTTAAAGTGCAAGTGTTACATATGGCTTTGTACATTAAAGTTGAAAGGGGTTTTACATTTTCCATTAAAAGGACTTTATCAAAAA)$ MASSASSSPAGTEDSAPAQGGFGSDYSRSSRKSDANASYLRAARAGHLEKALDYIKNGVDINICNQNGLNALHLASKEGHVEVVSELLQREANVDAATKKGNTALHIASLAGQAEVVKVLVTNGANVNAQSQNGFTPLYMAAQENHLEVVKFLLDNGASQSLATEDGFTPLAVALQQGHDQVVSLLLENDTKGKVRLPALHIAARKDDTKAAALLLQNDNNADVESKSGFTPLHIAAHYGNINVATLLLNRAAAVDFTARNDITPLHVASKRGNANMVKLLLDRGAKIDAKTRDGLTPLHCGARSGHEQVVEMLLDRAAPILSKTKNGLSPLHMATQGDHLNCVQLLLQHNVPVDDVTNDYLTALHVAAHCGHYKVAKVLLDKKANPNAKALNGFTPLHIACKKNRIKVMELLLKHGASIQAVTESGLTPIHVAAFMGHVNIVSQLMHHGASPNTTNVRGETALHMAARSGQAEVVRYLVQDGAQVEAKAKDDQTPLHISARLGKADIVQQLLQQGASPNAATTSGYTPLHLSAREGHEDVAAFLLDHGASLSITTKKGFTPLHVAAKYGKLEVANLLLQKSASPDAAGKSGLTPLHVAAHYDNQKVALLLLDQGASPHAAAKNGYTPLHIAAKKNQMDIATTLLEYGADANAVTRQGIASVHLAAQEGHVDMVSLLLGRNANVNLSNKSGLTPLHLAAQEDRVNVAEVLVNQGAHVDAQTKMGYTPLHVGCHYGNIKIVNFLLQHSAKVNAKTKNGYTPLHQAAQQGHTHIINVLLQNNASPNELTVNGNTALGIARRLGYISVVDTLKIVTEETMTTTTVTEKHKMNVPETMNEVLDMSDDEVRKANAPEMLSDGEYISDVEEGEDAMTGDTDKYLGPQDLKELGDDSLPAEGYMGFSLGARSASLRSFSSDRSYTLNRSSYARDSMMIEELLVPSKEQ|VYVEFDDLEWDKREWVKVYEDFSTFLVEYHLIWAKRNDPSQTQGSKSKQIQWPALTFKPLVERNIPSSVTAVEFLVDKQLDFLTEDSAFQPYQDDIDSLNPVLRDNPQLHEEVKVWVKEQKVQEIFMQGPYSLNGYRVRVYRQDSATQWFTGIITHHDLFTRTMIVMNDQVLEPQNVDPSMVQMTFLDDVVHSLLKGENIGITSRRRSRANQNVNAVHSHYTRAQANSPRPAMNSQAAVPKQNTHQQQQQRSIRPNKRKGSDSSIPDEEKMKEEKYDYISRGENPKGKNKHLMNKRRKPEEDEKKLNMKRLRTDNVSDFSESSDSENSNKRIIDNSSEQKPENELKNKNTSKINGEEGKPHNNEKAGEETLKNSQPPWDQIQEDKKHEEAEKRKSVDTQLQEDMIIHSSEQSTVSDHNSNDLLPQECNMDKTHTMELLPKEKFVSRPPTPKCVIDITNDTNLEKVAQENSSTFGLQTLQKMDPNVSDSKHSIANAKFLETAKKDSDQSWVSDVVKVDLTQSSVTNASSGNDHLNMEKEKYVSYISPLSAVSVMEDKLHKRSPPPETIKSKLNTSVDTHKIKSSPSPEVVKPKITHSPDSVKSKATYVNSQATGERRLANKIEHELSRCSFHPIPTRSSTLETTKSPLIIDKNEHFTVYRDPALIGSETGANHISPFLSQHPFPLHSSSHRTCLNPGTHHPALTPAPHLLAGSSSQTPLPTINTHPLTSGPHHAVHHPHLLPTVLPGVPTASLLGGHPRLESAHASSLSHLALAHQQQQQLLQHQSPHLLGQAHPSASYNQLGLYPIIWQYPNGTHAYSGLGLPSSKWVHPENAVNAEASLRRNSPSPWLHQPTPVTSADGIGLLSHIPVRPSSAEPHRPLKITAHSSPPLTKTLVDHHKEELERKAFMEPLRSVASTSAKNDLDLNRSQTGKDCHLHRHFVDPVLNQLQRPPQETGERLNKYKEEHRRILQESIDVAPFTTKIKGLEGERENYSRVASSSSSPKSHIIKQDMDVERSVSDLYKMKHSVPQSLPQSNYFTTLSNSVVNEPPRSYPSKEVSNIYGDKQSNALAAAAANPQTLTSFITSLSKPPPLIKHQPESEGLVGKIPEHLPHQIASHSVTTFRNDCRSPTHLTVSSTNTLRSMPALHRAPVFHPPIHHSLERKEGSYSSLSPPTLTPVMPVNAGGKVQESQKPPTLIPEPKDSQANFKSSSEQSLTEMWRPNNNLSKEKTEWHVEKSSGKLQAAMASVIVRPSSSTKTDSMPAMQLASKDRVSERSSAGAHKTDCLKLAEAGETGRIILPNVNSDSVHTKSEKNFQAVSQGSVPSSVMSAVNTMCNTKTDVITSAADTTSVSSWGGSEVISSLSNTILASTSSECVSSKSVSQPVAQKQECKVSTTAPVTLASSKTGSVVQPSSGFSGTTDFIHLKKHKAALAAAQYKSSNASETEPNAIKNQTLSASLPLDSTVICSTINKANSVGNGQASQTSQPNYHTKLKKAWLTRHSEEDKNTNKMENSGNSVSEIIKPCSVNLIASTSSDIQNSVDSKIIVDKYVKDDKVNRRKAKRTYESGSESGDSDESESKSEQRTKRQPKPTYKKKQNDLQKRKGEIEEDLKPNGVLSRSAKERSKLKLQSNSNTGIPRSVLKDWRKVKKLKQTGESFLQDDSCCEIGPNLQKCRECRLIRSKKGEEPAHSPVFCRFYYFRRLSFSKNGVVRIDGFSSPDQYDDEAMSLWTHENFEDDELDIETSKYILDIIGDKFCQLVTSEKTALSWVKKDAKIAWKRAVRGVREMCDACEATLFNIHWVCQKCGFVVCLDCYKAKERKSSRDKELYAWMKCVKGQPHDHKHLMPTQIIPGSVLTDLLDAMHTLREKYGIKSHCHCTNKQNLQVGNFPTMNGVSQVLQNVLNHSNKISLCMPESQQQNTPPKSEKNGGSSPESDVGTDNKLTPPESQSPLHWLADLAEQKAREEKKENKELTLENQIKEEREQDNSESPNGRTSPLVSQNNEQGSTLRDLLTTTAGKLRVGSTDAGIAFAPVYSMGAPSSKSGRTMPNILDDIIASVVENKIPPSKTSKINVKPELKEEPEESIISAVDENNKLYSDIPHSWICEKHILWLKDYKNSSNWKLFKECWKQGQPAVVSGVHKKMNISLWKAESISLDFGDHQADLLNCKDSIISNANVKEFWDGFEEVSKRQKNKSGETVVLKLKDWPSGEDFKTMMPARYEDLLKSLPLPEYCNPEGKFNLASHLPGFFVRPDLGPRLCSAYGVVAAKDHDIGTTNLHIEVSDVVNILVYVGIAKGNGILSKAGILKKFEEEDLDDILRKRLKDSSEIPGALWHIYAGKDVDKIREFLQKISKEQGLEVLPEHDPIRDQSWYVNKKLRQRLLEEYGVRTCTLIQFLGDAIVLPAGALHQVQNFHSCIQVTEDFVSPEHLVESFHLTQELRLLKEEINYDDKLQVKNILYHAVKEMVRALKIHEDEVEDMEEN* 11BR060 ENSG00000166068.13 ENSG00000171262.11 +/+ +/+ chr15:38253217 chr15:38464032 CDS/splice-site CDS/splice-site deletion/read-through 5 7 0 30 87 high in-frame . |Protein_of_unknown_function_(DUF2465)(100%) . . ENSG00000166068.13 ENSG00000171262.11 ENST00000299084.9 ENST00000397609.6 downstream upstream mismatches(1) ^(GCTGCGCTCCACCCCAGTGGCTGGAGGAGCAGCTCTCCAGTCAGCCTTTGCAGCCCCTCTCTTTTTCCCTTTCCACCGGGCCTCCTCGGATCCCTTGGCTGGGCACTGAGGCGGGGGAAGAGGCTGGGGTCGCCACGGCGGAGGTTGCTGCCGCCACCCCCCTGCGGGGGTGGCCGGGGTTCCCGGCTGGGGGGGTACCGTTCTGGGTGAG)GCATCCACCATGGTGAGGCCCCTGTGCCGCTGCCCCCGCGCCCCCCCGGCCGCCGCgGgCgCCgGCCCCTCGGTGCTGCTGTTGCTCCCCCGCCTGCTGTTGCTCCTCCATCTCCAGATCGGATCACGGTGAGGGAAAGATGAGCGAGGAGACGGCGACTTCTGACAACGA|GTATAAAGGACCATTGTTAGAAGAGCAAGCCCTTACAAAGGCGGCAGAGGGTGGATTATCTTCACCTGAATTTTCAGAGCTCTGTATTTGGTTAGGCTCTCAAATAAAATCATTATGCAACTTGGAAGAAAGTATCACGTCTGCTG___GAAGAGATGATCTAGAGAGCTTCCAGCTTGAGATAAGTGGCTTTTTAAAAGAAATGGCATGTCCATATTCTGTACTCATATCAGGAGATATTAAAGATCGTTTAAAAAAGAAGGAGGA(CTGTTTGAAACTTCTAT___TATTTTTAAGTACAGAACTTCAAGCTTCACAGATATTACAGAACAAGAAACATAAAAATTCTCAATTAGATAAAAATAGTGAAGTTTATCAGGAAGTTCAAGCTATGTTTGATACACTTGGTATACCCAAGTCAACAACTTCTGACATTCCGCATATGCTAAACCAAGTGGAATCAAAG___GTGAAAGATATTCTCTCAAAGGTCCAGAAAAATCATGTGGGAAAACCACTGCTGAAAATGGATTTAAATTCAGAACAGGCG___GAACAACTGGAAAGAATCAATGATGCTCTTTCCTGTGAATATGAGTGCCGCCGACGAATGTTAATGAAACGATTAGATGTGACTGTACAGTCCTTTGGATGGTCTGATAGAGCAAAG___GTAAAAACAGATGATATAGCAAGAATTTATCAGCCTAAGCGTTATGCTTTGTCACCCAAGACAACGATTACAATGGCACATCTACTTGCTGCTCGTGAAGATCTATCCAAGATCATTAGGACAAGTAGTGGCACCAGCCGGGAGAAGACCGCATGTGCCATTAATAAG___GTGCTGATGGGAAGGGTGCCTGACAGGGGAGGCCGGCCGAATGAAATTGAACCACCACCTCCAGAAATGCCCCCTTGGCAAAAGAGACAAGAAGGCGGCGGTGGAAGGGGTGGTTGGGGTGGTGGTGGTGGAGGTGGTGGTAGAGGAGGTGGTGGGGGTGGGGGTGGGAGAGGTGGCTGGGGGGGTGGAGGAGGAGGTTGGGGAGGTGGTGGGGGAGGGGGAGGAGGGTGGGGGGGAGGAGGAGGAGGTGGTAGAGGAGGTTTCCAAGGCAGGGGAGATTATGGTGGAAGAGGGGGTTATGGTGGAAGAGGGGGCTATGGTGGAAGAGGCTATGGAGATCCATATGGAGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGAGGAGGTGGATATAGAAGATACTAAAAACTATAAAAATTAGATAGCAGTGCTTGCTTCTTTATAGATACATTAGAAATAGTGTTCCAAATAACATACTTGAATATCATCTTTGAAGTAAACACCATGTTAGACTCCCTGGTGATACCACTCTTGAATTGGTTAATATGTAAGAACATTGTTTTTTATTACCAGTTGATCTCTCAAATGAAGTGATGACTTTTTCCATATTCTGTGTACCCTTGAGCATGTTGTGTCTTTTTAAAAAACAAAAAAAAGAACAAAAATTATTTTTTAAAATGTAAATATTTATTACCATCAGACTTGGAAAATGGAAAGTATTTTATTGTCATGATTGAATTTAGATTGTTACCTGTATTTTGTTCAGGTTTGAGACATATAAAAGACCCCACCTGTAATAGAAAGGAATATAGACCCTTGCCTCACCTGTATTGCTGTGGATGTGTTTTGTGGGTTTTTCATTCGATTTTACAAAATAGGGAAAGGCACTTCCAGTTGTATTTAGTAGGCAGTTGTTGTGAATCATTTTTTTCTCTTATAGGAGGAGATTCCTCTCTAGCCATGTTTCTGTTAAAGTTTCATTAATTGAAGCCCAAGTTTACTTTTTACTGTACATACTTATTTTCTAATTGGATTTGAAATCAGCATGATTTTGTTTGACAAAGCAAAGTTTAAGATTGAGGTCAGAAATACTTTAATGGAGCAAAGACACATACCAACTTTACATGACGGTGTGAGAAATAGTCCTATAAACTGGTCTCTTCATCATTTATGCTCTCACTTTAGATATCCAAATATTAAAAGGCAGGCTGACCTGTATCACACAGAATTAAGGCAGTAATTTTCTGCTTCAGTAGATCAAGGGTAGGGCTAAGGCATCCTGTGGTAATTCTGATTCACAGCTAGATTTGGGAAACACAAAGTTAGGGAATGGCTATATGTGATTTGCTAGTTGGAGCAGTCAAAGTCTTAGCTATCAAGAGTTGTGAATTTGAATCATGGCACTAGGTCAGGGGTGCTATGGATTGAAATGACCTTAGTTCTCAAGGAGTGATTTGTCCTCATTTGTCAAATGAGGAATGAGACACTTACCATCATCTCAGGTTGTTTCTTAAAGACCTAAATACAAATACAATTTGTTAAAAACTTACAGAGGGCCTATTTTGAATGCTTTAAGATGTAGGCCAAGTAATGTATTTTTCTCTTAGTGTAGAAAGTTAAGAGAAAAAGAGCTGGTACCATAAATTTTTTCAATCTTAGTGTAAAATCTGTATCTCATTGTAGGCTTCTGGTCAATACCTATACATAACAACTTAATGTGATCTAACCAACTCAACTGATAGAAAGCTGAATTGTTCCCAGTGGACAAGTGGTATTTGATGTTTAGCAGGTTTTTTTGTTGTTATTTTTTTGGTAAACTCTGTGGTAAAATCTAAAATAATGTTAAAACCCTAAAAGTAACTATTGAATATTCTGTAATCTTAGACATGTATTTTTCAAGCTAACCCTTTGAAGAAATGTGTTCAAGGTAGGAAAATATAAAATTTTTTGGTTATTTGTAAATTTATTTTTTGTGTGTTTATATTTAATGAAAAGATGTAATTTCATTTGTGATAGCTGAAAAAAAGGCTTTCCATAATTAAGAAAATACCTTTATCAGTAGCTATGAACTCTGAAAAATAATTTTTAAAAACTTTTAAGAAAAAAACTACTTGAGTAAAATATTTCAAGAGTTGTTTAAAAATCTTCTTTAAAACCTTTACATTTCTGCCTCACTTCTTTTTTGGTAGCATTAGTTGCTGATGAAGGAGATTTACAACTACTTTCAACTTTTTTACCACTAAAGGTTTATGGTAAATATGGCAGAAACAATAGTTTATCAGTTTCATTAGATTTTCCATAAGATTTCTTTGTACCTTTATAGGAGTGCTGCTTGGGTTATTCACTACAATCACTTATTTCCTATCAAAGTTTAGCACTTGCTCCTGGAATCGTGTTGGAGCTGAAACCACTCCTATGTACACATTCCTATAAACCTTAATTGAATGAAAAGCTGAATCAGGTAGACTCTTAATATTTTACTCTTTCCTGTAAGGTGGGATTTTCCTGATAATCTTTGTTCAGTAAAAATTTCTTTTGTAGAACAGTTTGCTGAGCAGTATCTGGAATAGCAGGAAGGAAATTTGGGGCCTTAATGGGAAAGGCCATAGTGTGAAAATGTTTTATAAATTGAGTGCAATACGACATGGAGTATGATGAATGGCACTCCACTGCTTCCTAAAATCCAACACTTTTTTTGATACCTCCTTTTCATTCTTTTTTGCCTGGTTCTCAATTTCATTTTTTAATTACCTCATTGTCCTTCCCCTTTTTTCTTCTCTTTTTGTCCAGCCTGGTACCTAATAGCAAATATAGACATGATCTTACTGGGAGTTTCTGCCTAAAGTAGTCATCTTTCCTCTCGACCGTATAAAGAGCATGTATTCTGTCTATAACATAATCACCACACTATTACTCATAAGCACACATCAAAAGGGAAACAAGGGTTTTCTTTGAACTTACTTTTGTTTTGCAGATCAGGGAAACCTTGCCTCATTAAACAGAAAAAGGAAAACATTTTAAATAAAAAACATCTTATTACCTGTATCTGTGACAAGAGGAGGCATGACAACCTAAAAAAAATTTGTGACCAGAAAAATGTCCTGAGCAGTGATACTATCTATACCTTGGAAGGAGCACAGGTTAGAGAAATGTGGGGATGAAAATTGGGGAAGGTGAGCAGGCAGTTTAATCTTGCCTTCAGGATCAGGCTGTCAGTGTGACTTTATTACTTTGTATGAAGTATTATGAATTGCCCAAATGATAAATACACCCCCATCTAAATGTTCCAGAATGCATTCCACAGAGGAATTTGAGTGACTGAAATTTTTCCTCTTTCTTCATTGGTGTGGTTAAACAAAAATTAGCTGGGGATTAAGGGAAAATTGTGGCTATGTCTGATCATTCTAAATAATCATGACCACAAATAAATTGCCCTGAGTAGGTCTGTAACCTGGA)$ MSEETATSDNe|YKGPLLEEQALTKAAEGGLSSPEFSELCIWLGSQIKSLCNLEESITSAGRDDLESFQLEISGFLKEMACPYSVLISGDIKDRLKKKEDCLKLLLFLSTELQASQILQNKKHKNSQLDKNSEVYQEVQAMFDTLGIPKSTTSDIPHMLNQVESKVKDILSKVQKNHVGKPLLKMDLNSEQAEQLERINDALSCEYECRRRMLMKRLDVTVQSFGWSDRAKVKTDDIARIYQPKRYALSPKTTITMAHLLAAREDLSKIIRTSSGTSREKTACAINKVLMGRVPDRGGRPNEIEPPPPEMPPWQKRQEGGGGRGGWGGGGGGGGRGGGGGGGGRGGWGGGGGGWGGGGGGGGGWGGGGGGGRGGFQGRGDYGGRGGYGGRGGYGGRGYGDPYGGGGGGGGGGGGGGGYRRY* 11BR060 ENSG00000104299.15 ENSG00000253499.2(446939),ENSG00000253756.1(25803) -/- ./- chr8:28812327 chr8:114765850 CDS/splice-site intergenic duplication 6 3 0 36 4 high out-of-frame . Metallo-beta-lactamase_superfamily_domain(100%)| . . ENSG00000104299.15 . ENST00000416984.6 . upstream downstream . ^(GAAAGGGGAGTCGGAGCCGTCGGGACTACACATCCCAGAACACCATGGGCCCCAGGCCCGTAAGGAAGACATGATATCATGCTGGGGTGGAGAGGGAGGATGCATTGGCGGCTGGGATGAATTTGAGCTGACGGAAGGAGGCGTTCGGAGAGGAAAGGGAGGAAAAGGAAAGGCGACCACAGTTCCCATGATGCCTGGAGGGGAGACTACATTTCCCATTATTCCCCTGGAAGGGACGTGAGGATGAAAGACTGCAAGTCCCGCGATGCTCTCGGCTGGCAGGTGGCGGAGATTGCACCGGAAGACGCTTCCTGGGTTTGAGGAGTTCAGTGACTGCTATTGAACCACCAAAAGTCCATTATGAAACTG___TATTGCCTGTCAGGGCACCCAACCTTACCATGCAATGTGCTCAAATTCAAATCAACCACCATTATGTTGGACTGCGGACTGGACATGACTTCTACCCTCAATTTCCTTCCTTTGCCACTTGTTCAAAG___TCCCAGGCTGTCCAATCTTCCTGGCTGGTCCCTGAAGGATGGAAATGCTTTCTTGGACAAG___ACGGAGCTAATAGATCTGTCTACAGTAGATGTGATTCTCATCTCTAACTATCACTGTATGATGGCGCTGCCATACATCACCGAGCACACCGGCTTCACAGGCACAGTGTATGCCACGGAACCCACCGTCCAGATCGGCAG___GCTTCTCATGGAAGAGCTGGTGAATTTCATTGAAAGAGTGCCAAAGGCTCAGTCTGCCTCCTTGTGGAAGAATAAGGACATTCAGAG___GCTGTTACCTTCTCCTCTCAAGGATGCAGTGGAAGTCTCAACCTGGAGAAGA)TGCTATACAATGCAAGAGGTGAACTCTGCCCTTAGTAAAATCCAGCTGGTGGGATATTCTCAGAAAATT___GAGCTTTTTGGTGCGGTCCAGGTGACTCCTCTGAGCTCTGGCTATGCCCTTGGGAGCTCCAACTGGATCATCCAGTCTCATTACGAGAAAGTGTCTTATGTCTCTGGATCCTCCTTGCTTACCACACACCCCCAG|GGAGACCAGCAAATACAATACATGGTCCACTCTTACCTTTCCCCTTTCAGAAAATAAAGATGCCATATCCATGCTTCAAAAAAGAAAAGAAAAAAGAAAAGAAAAGAAAGAGAAGAAAAGAAAAAAAAAGCAGATGGGCTTCAATTCTTTTCTTTCAAGAAAAATTGAAGGAAGGTCCAATCAACTAA MKLYCLSGHPTLPCNVLKFKSTTIMLDCGLDMTSTLNFLPLPLVQSPRLSNLPGWSLKDGNAFLDKTELIDLSTVDVILISNYHCMMALPYITEHTGFTGTVYATEPTVQIGRLLMEELVNFIERVPKAQSASLWKNKDIQRLLPSPLKDAVEVSTWRRCYTMQEVNSALSKIQLVGYSQKIELFGAVQVTPLSSGYALGSSNWIIQSHYEKVSYVSGSSLLTTHPQ|gdqqiqymvhsylspfrk* 11BR060 ENSG00000004142.12 ENSG00000007216.15 -/- +/+ chr17:28350438 chr17:28493571 CDS/splice-site CDS/splice-site inversion 5 4 0 628 10 high out-of-frame . ApaG_domain_(100%),Hemimethylated_DNA-binding_protein_YccV_like(100%)|Sodium:sulfate_symporter_transmembrane_region(100%) . . ENSG00000004142.12 ENSG00000007216.15 ENST00000540200.6 ENST00000444914.7 upstream upstream . ^(AGTGTGGGACTGGGGCGGAACGCCGCCCGGCCGCGGGTCGGGCTCTGTGTCAGCAGCCGGGCGGGCGCTCGGGCGGGACATGGCAGCCTGTACAGCCCGGCGGGCCCTGGCCGTGGGCAGCCGCTGGTGGTCCCGGTCGCTGACTGGGGCCCGGTGGCCAAGGCCGCTCTGTGCGGCGGCCGGAGCTGGAGCCTTCTCGCCAGCGTCGACCACGACGACGCGGAGGCACCTCTCGTCCCG___AAACCGACCAGAGGGCAAAGTGTTGGAGACAGTTGGTGTGTTTGAGGTGCCAAAACAGAATGGAAAATATGAGACCGGGCAG___CTTTTCCTTCATAGCATTTTTGGCTACCGAGGTGTCGTCCTGTTTCCCTGGCAGGCCAGACTGTATGACCGGGATGTGGCTTCTGCAGCTCCAGAAAA___AGCAGAGAACCCTGCTGGCCATGGCTCCAAGGAGGTGAAAGGCAAAACTCACACTTACTATCAGGTGCTGATTGATGCTCGTGACTGCCCACATATA___TCTCAGAGATCTCAGACAGAAGCTGTGACCTTCTTGGCTAACCATGATGACAGTCGGGCCCTCTATGCCATCCCAG___GCTTGGACTATGTCAGCCATGAAGACATCCTCCCCTACACCTCCACTGATCAGGTTCCCATCCAACATGAACTCTTTGAAAGATTTCTTCTGTATGACCAGACAAAAG___CACCTCCTTTTGTGGCTCGGGAGACGCTAAGGGCCTGGCAAGAGAAGAATCACCCCTGGCTGGAG)CTCTCCGATGTTCATCGGGAAACAACTGAGAACATACGTGTCACTGTCATCCCCTTCTACATGGGCATGAGG___GAAGCCCAGAATTCCCACGTGTACTGG___TGGCGCTACTGTATCCGTTTGGAGAACCTTGACAGTGATGTGGTACAGCTCCGGGAGCGGCACTGGAGGATATTCAGTCTCTCTGGCACCTTGGAGACAGTGCGAGGCCGAGGGGTAGTGGGCAGG|CTTCCGGAAGAACTTTGGCATTGGGGAAAAGATGCAGGAGCAACAGCAGGCAGCCTACTGCGTCATCCAGACCGAGCACAGGCTGCTGGGCCCCATGACCTTTGCAGAAAAGGCCATCAGCATCCTATTCGTCATCC(TGGTGCTGCTCTGGTTCACCCGGGAGCCGGGCTTTTTTCTTGGCTGGGGCAATTTGGCTTTTCCCAATGCCAAGGGGGAGAG___CATGGTGTCCGATGGGACAGTGGCCATCTTCATCGGCATAATTATGTTCATCATACCCTCCAAGTTCCCAGGGCTGACCCAGGACCCAG___AAAACCCAGGGAAGCTGAAGGCCCCTCTTGGCCTCCTCGACTGGAAGACGGTGAACCAGAAGATGCCGTGGAATATCGTGTTATTGCTGGGTGGTGGCTATGCCCTGGCCAAGGGCAGTGAG___CGATCGGGCCTGTCAGAGTGGCTGGGAAACAAGCTGACCCCACTGCAGAGTGTGCCAGCTCCAGCCATTGCCATCATCCTCTCCCTCCTGGTGGCCACCTTCACCGAGTGCACTAGCAACGTGGCCACCACTACGATCTTCCTGCCCATCCTAGCCTCCATG___GCCCAGGCCATCTGCCTCCACCCTCTCTACGTCATGCTCCCCTGCACTCTGGCCACCTCCCTGGCCTTCATGTTGCCTGTGGCCACCCCGCCCAATGCCATCGTCTTCTCTTTCGGGGACCTCAAAGTGTTGGATATG___GCCCGGGCAGGATTCCTCCTCAACATCATTGGAGTCCTGATCATCGCACTGGCCATCAACAGCTGGGGCATCCCCCTCTTCAGCCTGCACTCTTTCCCCTCCTGGGCACAGTCCAACACCACAGCCCAGTGCCTGCCAAGCCTGGCCAACACCACCACACCAAGCCCCTAGGCTGGGGCACAGCCTGGCCATGCCCAGGAAGACCCACCCCATTCCCACTCCTCTGAGCCCGGAGGGGACACCCCAAGCTCCAAGCTCCAAGCTCCAGGCCAAAGGCTGAAAGGCACGTGTGTACATAATCTCTTGCGTGTCTGTAAGGAAGGGGTGTATGCTCAGTTTCCTATGTGCTGGAATAAAAGGTGTGTGCATGTGTGTGTGCGCATATGTGTGCGCCTGCATGGATGTGAGGGGTGTGTGACGTGAGGCTATCTGAGGGGGGCTGTGTGCATGCACATGATCCTAGGTATGTATGTTGGACAGTGCACACGTGTGTGTTCACAGACAATACAACATGCCCTCTCTGGTGCCCCAGGTCTTGGTATCCCCAGCTTAGTGACCAGACTTACTTGCACTGTATTTATTGAAATTCAGGCTTGGAGTGGCCTGGGAGGAGGGCCTGCCAGCAGCTGCCACGGGAACAGCCTCTGGGCTGTTAAAGTCACATTAAAGTCTTTTTCAGT)$ MAACTARRALAVGSRWWSRSLTGARWPRPLCAAAGAGAFSPASTTTTRRHLSSRNRPEGKVLETVGVFEVPKQNGKYETGQLFLHSIFGYRGVVLFPWQARLYDRDVASAAPEKAENPAGHGSKEVKGKTHTYYQVLIDARDCPHISQRSQTEAVTFLANHDDSRALYAIPGLDYVSHEDILPYTSTDQVPIQHELFERFLLYDQTKAPPFVARETLRAWQEKNHPWLELSDVHRETTENIRVTVIPFYMGMREAQNSHVYWWRYCIRLENLDSDVVQLRERHWRIFSLSGTLETVRGRGVVGR|lpeelwhwgkdagatagsllrhpdraqaagphdlcrkghqhpirhpgaalvhpgaglfswlgqfgfsqcqggehgvrwdsghlhrhnyvhhtlqvpradpgprkpreaegpswpprledgepedaveyrviagwwlcpgqgq* 11BR060 ENSG00000082701.16 ENSG00000082805.20 -/- +/+ chr3:120002046 chr12:1490093 CDS/splice-site CDS/splice-site translocation 4 4 0 68 18 high in-frame . Protein_kinase_domain(100%)|FIP_domain_(100%) . . ENSG00000082701.16 ENSG00000082805.20 ENST00000264235.13 ENST00000543086.7 upstream upstream duplicates(1) ^(ACACAGAGCAGCTCCTGACCCGGGCGAATGCGGGCTTGTGCCGCCGCCGCCGCCGCCGCCGCCCGGGCCAAGTGACAAAGGAAGGAAGGAAGCGAGGAGGAGCCGGCCCCGCAGCCGCTGACAGGGCTCTGGGCTGGGGCAAAGCGCGGACACTTCCTGAGCGGGCACCGAGCAGAGCCGAGGGGCGGGAGGGCGGCCGAGCTGTTGCCGCGGACGGGGGAGGGGGCCCCGAGGGACGGAAGCGGTTGCCGGGTTCCCATGTCCCCGGCGAATGGGGAACAGTCGAGGAGCCGCTGCCTGGGGTCTGAAGGGAGCTGCCTCCGCCACCGCCATGGCCGCTGGATCCAGCCGCCGCCTGCAGCTGCTCCTGGCGCAATGAGGAGAGGAGCCGCCGCCACCGCCACCGCCCGCCTCTGACTGACTCGCGACTCCGCCGCCCTCTAGTTCGCCGGGCCCCTGCCGTCAGCCCGCCGGATCCCGCGGCTTGCCGGAGCTGCAGCGTTTCCCGTCGCATCTCCGAGCCACCCCCTCCCTCCCTCTCCCTCCCTCCTACCCATCCCCCTTTCTCTTCAAGCGTGAGACTCGTGATCCTTCCGCCGCTTCCCTTCTTCATTGACTCGGAAAAAAAATCCCCGAGGAAAATATAATATTCGAAGTACTCATTTTCAATCAAGTATTTGCCCCCGTTTCACGTGATACATATTTTTTTAGGATTTGCCCTCTCTTTTCTCTCCTCCCAGGAAAGGGAGGGGAAAGAATTGTATTTTTTCCCAAGTCCTAAATCATCTATATGTTAAATATCCGTGCCGATCTGTCTTGAAGGAGAAATATATCGCTTGTTTTGTTTTTTATAGTATACAAAAGGAGTGAAAAGCCAAGAGGACGAAGTCTTTTTCTTTTTCTTCTGTGGGAGAACTTAATGCTGCATTTATCGTTAACCTAACACCCCAACATAAAGACAAAAGGAAGAAAAGGAGGAAGGAAGGAAAAGGTGATTCGCGAAGAGAGTGATCATGTCAGGGCGGCCCAGAACCACCTCCTTTGCGGAGAGCTGCAAGCCGGTGCAGCAGCCTTCAGCTTTTGGCAGCAT)GAAAGTTAGCA___GAGACAAGGACGGCAGCAAGGTGACAACAGTGGTGGCAACTCCTGGGCAGGGTCCAGACAGGCCACAAGAAGTCAGCTATACAGACACTAAAGTGATTGGAAATGGATCATTTGGTGTGGTATATCAAGCCAAACTTTGTGATTCAGGAGAACTGGTCGCCATCAAGAAAGTATTGCAGGACAAGAGATTTAAG|CTTCAGGATGAGTTAGAGAAAGGTGAACGGGACAATGCAGAACTGCAGGAGTTTGCCAACGCCATTCTTCAGCAGATAGCAGACCATTGTCCCGACATCCTAGAGCAAGTGGTCAACGCCCTGGAAGAGTCCTCTTGACCCTGCTTTATGGGGAAGCCTGAGGTAGTCAACCCAGGAGCCAAGAAAAGAGAACTACGAGGAACAGGTGCCCGGAACCTTCTTGGCACCAAACACTACAAACTTCATCCCAACTTGCT(CACTTGAAGAAGTGTGATTCCAGCACCGTTTCTACATCTGCCATCTTACTCTGCCTTTCTGCTTTGGATGTGGTCTCTACACTAACCTTCTTGATGTCCAGGGTAGATAAAGGGTCGAATCTCTCTGAAGAACTGCCACCTGGTCATCAGCAGTGGAGAACTGTGGGAGCTGGTGGCTCTGCCCTGACAGAGAGCCATGGAGCAGAGGAGCCTCTCACCTCCTGTCCTCTGACATGAGAATGAAACCAGGAATGGACTTGGAGTTCAACAGGCTGAGAGGATGCCTCCAATGGACCAGAGAGCTGAGTGTTCTAATATCACAATAGGTGCTTTCTCCTAAAAGGGCAAAAAACAATCTCAAAAAGATTAGAAAAAGAGAAGGGGGGAAGGGAAGAGAAAATCGACTCTTCTTTTTACTGTCTCTTCTGCTTACTTTCCACATGAGATGCTTTGTACCGGGGAGCTGTGAGCAGGCCTCACGATGGCTTGGGAGCACTCGTTCTCCCAAGGTCTGAGTCTTCATCCAGCCCTGCCTGTCTGTCGCAGCCTTCCTCACTCTGTTCCTCGGCCAGTTAACAAGAAGATGGTGTGAGGTGTTCTCCACCAGTCTCTCCTGTTTGAGACTGTTGACGTTATCATACTGAGGTGTTAGATCAAATATCTCTAATTGAAGAACATGTGAGGTTGAAAGAGCACCAGCCAGGGCAACATAGCGTGACCCTGTCTCTACAAAAAATTAAAAAGAGAACATACAAAGTTGACATATGAGACCCTGTTGTCCCCGCCTGCAGCTTTGCCCCAGTAACAGATGCCCGTTGCTCTTGGGCTGGTTTCCCCTGAACACCTCCAAGAGGCTGCCTGCCTTGCCAGCACCCGTGTCCTGAGCTCCTGCAGCCCAGTGGCTGCTGAAGTTGTGATCCCTCACTCACCCTGCTAGCTTTGCCCTTGACTCGTCTTCTCTGAACCTCAGCCTCGTGCATTGCCTGGAACCTTCTTCTAGCATAAATGAAGGTTTTTCCTCCTACACACATTCCTTCCTCGGTTATTTCATTCAGAGAATATTTATGAAATGCCTACTGTGTGCAAGTCATCCATCCTTGAAAAGGCCACTTCTCAGTGAGGGAGAGATGTAGTGGATTCTGTGAGACATACCTGCTGGAGTTGAAGCAGTAAATAGCATGTCCTTCCCCTCCCCGATCTTAAGGTGTGTTTTCTAGAAAAGTTCCCTAATGGAATTCATGAGTTTGGGGGTCTCAGTCACCCGCTTGCCTGTAGGATTCCATTTGATGATTCTGGATTTTTGCTGTTTGTTATTGCCCTTAGAGGGGCTCTGAGTATCTACTTGTGGGTGGCCATTTCCTGACATCTGCATGTACCTCGTGGAATTCAGCCAGCTTCATGTTGCAAATCAGAAAGCTGACCCCAAGACTGCAAATCAATGAAGGTATTGGCATTGTTAAGGACGTAGCGTAGACAACAGCAGTCATAAATAATTAGGCAGGAACTTAACCCAAATCTAGTTCTTTGACCACCTCTACCACCAGAACCCAGCAGACACTCACATCTCCTGATAAGAGTTGCTGGACTCGATGTTTTTGTTTTGCATTTTCTCCTCTCCTTCCCCACTTACTCAGAGAATTTAAAGTCTGTAGAGTCAGCACAGCCCCATCAGTCCAGGAACTTCCCACCACCAGCCCTTGACTGTCCCATTAACTGACATGGTCAGATTTCCAGCTCCCCCTACTCCCTGCTGTGAAACAATCCCTCTCCCTGTGAGAGGAAACTGTGGAGCGTTTCTTATCGAAGGTTAAATGGACTCTGCTCATAAACCTCTTACTGAGATGCTTCCTGATAGCCAGGCTGGCCAGAGAGGGGTGCAGGGGTTAGATAGTAAGTGGTGGTCGTTTGTGGTCAGTTACCTCAATTCTGTTCATTGCAGTGCCCGTAAACCATGTAGAAAGCTCCCAGCACTGAAAGGCAGGAGTGTTAGCATCTCGCTTTATCCACCATAACGTAAAGAACTGCGGTGTGATAACAGCCTTCACGGGGCCACGGTGGAACCAAGACAGCAGGCGAGGCCATGCCTAAACAAGTGGTCTGGCACGGGCACTGGCCAGCTGCTCTCTCCAAGCAGGTGGCCCAGATCCCACCCACGTGGACTTTCTCATCAGGTGCAGCGCCTGCCACTCTCAGCCACTGGGTGTGTCACTCTCCTCTTCATCTCAGCATTCTCCATCACTTCCCCTCCAGAAAAACGGATGGAAGGAAGCCCTCTGTGACACTGCTTCTGAGAAGAAGCATTTCCGGGACCGATATCATCTGTCTGGTCTCTGTGAACAGCAAGGAATCTTCTTGACCGTTCTTGGGCACTGGAGGCTGGCTAGGAGTTCAGTAATAAACGTGGCCTTCGTGCTGTAGGGCAGAGTGGATGCAGTTTGTAGCTTTCAGAGTGTCTCATTGAGTCTAGATCATTGAACCAACACTTAACCAAATGTCCCACTCCCATCACACTAGGACTTGTCATTCCATGCCCCTCTCCTAGTGGTCATGGTTTCATATGGGCATACAACTGCTACTGAAGTTATATAGCCTTGAAAACTCAGTGCAGGTTGCCCTTAATTTTCCCCAAACCCCTCCATCGGCAAGTCTAGTTGCCCTTTAGCACCTAAAGATCTGCACCCCAAACCAATGTCACCATAAAGAGGGCACGAAGAAGAGTGGGTGTGATCCCAACGGGGTTTTGTAACTGAAGAAGCCCAGTGTGAGCTTCTCATCTTTTCATATACCTCTAACCCCCGGTACTCATTGAATCATTGATGAGGTATCTCAATTGAGATTTGCAAGGACTTTGATACCATTTGAAATGGAAAAATTTTGAACGGGCTTTAACATGTTTAAGAAATATGGATGGGGCCGGCCACAGTGGCTCACGCCTGTAATCCCAGAACTCTGGAAGGCTGAGGCAGGCGGATCACCTGAGATCAGGAGTTCGAGGCCAGCCTGGCCAAGATGGCAAAAACCCCGACTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCGTACGCCTGTAATCCCAGCTACTCAGGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGGCTGCGGTGAGCCGAGATCGTGTCACTGCACTCCAGCCTGGGTGACAGAGACTCCATTTAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATGGATGGGAATCACCAAATTCATCTCAGCTCTAACCTTTTAACCTTTGTCCTTGCACTTTACAATCTAAAGATCTACCTGTGGCTCTCAGACTTCCTCACACTTGGGTTTTAGAAATAACTTGTAAAGCAGACTGGACCCAAGGCCGCCTTCAGTGTCAAGAAGGGCATTGTGACTTGCCCCTCAATTTCTGTCCATTGAAGTCTGGTTTTCCATGAGGAACTTGCGGGCTCACCCACCCCCAGAGTGAGAGAAGAGGAAGGCGAAGTCATCACAGACACGGTCTTAGCCACCTGCTGAACTAATCCCTCCGCTATTGAGGGTCAGGGTTGTGAGGCAACCATCATGTGTCACCCCAAAATATAAATGTTTCTGAGCCGCCCATCCACTGGCATTTGGATTTGCTGCCAGAGTCCTGTTCCTCCCAGAACCATCCCGCCCTCCTGTTGACCATGTTACTTGAGTGTAGGCCCGGTGTCAAGACCCTCAGAGTCTTTGAGGAAAGAGCCAAGCAGAGAAGACCGCTGCGTGGAGTGTGACACCACATGGCATTTCTCAAGCCCAGCGGACCCTGTGTCAGCAAATACCAGTAATTTAACATCTGCTCCTGGCCTCCTCTTCACCTGCCTGGGTTCGGAACTGAGGAGGAAGGATGAGAAGAGACTGCAATGCAGCAGGCACCCTCTGCAGAGTGAGGCCGCCCGTCCATCACTGCCAGCCCTGGGCTGCTCAGGAGGGGACGTGAACCACTCAAAGGAATGTCTTAAAGAGGATCTGGAGTTTCCCCCATGCAAATTAGGGAAGAATTAGGCAAGAAAAGACATACATTACAGGGAAATCCTTCTGAACAAAATGGCTGTCTTCACCTACTCTTCTTGCAAGAAAAGACATACATTACAGGGAAATCCTTCTGAACAAAATGGCTATCTTCACCTACTCTTCAGCAAAAACCGTCTCCAGACTTTTTAGTGTCAAAAATGTAACCAACTGTCTCCTGATTTTTTCCAATGTGTTTGGCAAGTGCTGTGGCCCTGTTGTAGGTACTTCTCCTGACTCTTGGGGGAGAAGTGGTTTTAGGGATTGATTTGGGGGAGCGGGTTTTTGTCCCATCCCACCTCCTCTCTTCTTTCTCTGCTTGTCGATATTGTCTGTGTGATTCAGAGAATTGGGGCAGTTACATTGTGTCTGTTGTTGAGATTATTAAAAGATTAAAACGTAGTTGTAGAAATGAAAAATTAAACAGCTGTGTTTTAAAAATGCAAACCAATATCTTGTTAATAAAGGAATTCAAGCTATGGGGCAGCCACACTCCCCTCCTCCCAGGCTGGCATAGGTGGCCCTGGGCTGGCGGCTTAGGAAGCATGGAGCACACTTAGGGTAGTGCCTGCCTGGGCAAGAGACACCTGCCGAGCAAAAGGAACGAGAATCTGGGGCTCAGAGCCTCGCAGTTGTGCCAGGATTTTCCTATACATGTTCAGGACCTCTGGGTAGAGGTTTCACAGTTTGTGACCCCATAACCACCCTCACCCGACGTGGGTTCTAGCTCAGTGTGCCTAATACTGCATGGTAACCTGGGCTTGACCCTGAAGCCCCTGCCTGGCAGGCCACAGGACCTCTCCTGCCCACTTGGTGCTATCTCTTCCAGTGACCACCCAGCACGGGTGAGCACTGGCCAGCCTGGAGCCTGCAATCCAGGTGGAACAGACTGTCCTCCATGTCAGTTCCTTCTGGCTTCAGGCCCTCAATTATTTCCCTTTGAGCTTTTTTAGACCCTAGATCTCCTAGGCCCAGGCTCTCTCTTGACCCCAGAGAAGCCACTGTCAGGAAAGGAAGTGAACCCTACTGAAGCCAGAGAATTCACCCCGGCCAAAGCAGGCCCTCTGGGTCCAGCCCCTCATTCCACACCACGCCAGTATTGCATCCATCTACTGCAGCTACACATCCTGAGGGCAGCACCACCCACTCTGGCCTGCTGGCCCATCGCAGGACTAGCCCAGGCACCTGCCGGGCATTGCAGGATATCCAGTGGGGCCTGTGACTGCTCCCTGATGCGTCAGAAGAGAAGTGTTGCACTTTAGTGGAGGAGCTGAGGAGCACCTGCCCCCTTGTAGCTTGAGTTCCTTTTGGTAACAGTAGCAGCCTCCATGGTGGTGTCTGGGATGCACGTGCACCCGCTGCCTTCAGCTGTATGTGTGTGTTCCTGCTGGAGTTGTGTTACTGACAGGATAATGACATTACAAAGAAATTGTGTTATATTCAACTTTGCCTTGATAATTATTGTAAACACTTTGTTCATTTTTTCTTTTTTATTCACAAACTAAATCCACCAGGAAATTATAAAGTTATTTAAAAACCGT)$ MSGRPRTTSFAESCKPVQQPSAFGSMKVSRDKDGSKVTTVVATPGQGPDRPQEVSYTDTKVIGNGSFGVVYQAKLCDSGELVAIKKVLQDKRFK|LQDELEKGERDNAELQEFANAILQQIADHCPDILEQVVNALEESS* 11BR060 ENSG00000185238.13 ENSG00000201591.1(409476),ENSG00000270588.1(203093) +/+ ./+ chr11:20426865 chr11:39670689 CDS/splice-site intergenic deletion 3 2 1 49 18 high out-of-frame . Ribosomal_protein_L11_methyltransferase_(PrmA)(100%)| . . ENSG00000185238.13 . ENST00000331079.11 . downstream upstream . ^(AGACACGCCGGGCTCTCGGGGCACCACAGCCATGTGCTCGTTAGCGTCAGGCGCTACCG___GCGGCCGGGGCGCTGTGGAGAATGAGGAGGACCTGCCAGAACTGTCGGACAGCGGGGACGAGGCCGCCTGGGAGGATGAGGACGATGCAGATCTCCCCCACGGCAAGCAGCAGACCCCCTGCCTGTTCTGTAACAG___GTTATTCACATCTGCTGAAGAAACATTTTCACACTGTAAGTCTGAGCATCAGTTTAATATTGACAGCATGGTTCATAAACATG___GACTTGAATTTTATGGATACATTAAGCTAATAAATTTTATTAGACTTAAG___AATCCTACAGTTGAGTACATGAATTCCATATACAACCCAGTGCCTTGGGAGAAAGAAGAGTATTTGAAGCCAGTATTAGAAGATGACCTTTTACTTCAATTTG___ATGTAGAAGATCTTTATGAACCGGTGTCAGTACCCTTCTCATACCCCAATGGACTCAGTGAAAATACATCTGTTGTTGAAAAATTGAAACATATGGAAGCCAGGGCACTGTCTGCTGAAGCCGCATTGGCCAGAGCACGTGAGGATCTGCAAAAAATGAA___ACAATTTGCTCAGGATTTTGTGATGCACACAGATGTCAGAACCTGCTCGTCATCTACTAGTGTCATTGCGGACCTCCAGGAGGATGAGGATGGTGTTTATTTCAGCTCATACGGGCATTATGGGATACATGAAGAAATGCTAAAG___GACAAAATACGAACAGAAAGCTACCGAGATTTCATATACCAAAATCCACATATCTTCAAAGACAAG___GTAGTTTTGGATGTTGGGTGTGGAACTGGAATTCTCTCTATGTTTGCTGCTAA)AGCTGGGGCGAAGAAGGTTCTTGGAGTTGATCAATCTGAAATACTTTACCAGGCAATGGATATTATAAG___ACTAAATAAACTTGAAGATACTATTACACTAATTAAAGGAAAGATTGAAGAAGTTCATCTTCCTGTAGAAAAAGTAGATGTTATCATATCTGAGTGGATG|GTACCTTGGGGATGGATCCTCCAACTTCAAACCATCAGATGCCTGCAGCTCCAGCTGAGATCTGACGCCAACCTCATGAAAATCCTAGAATCAGAACTGTCAAACCAAACTGCTCCTGAATTCCTGAAATGGTAAAAGATAATAAGAGCA MCSLASGATGGRGAVENEEDLPELSDSGDEAAWEDEDDADLPHGKQQTPCLFCNRLFTSAEETFSHCKSEHQFNIDSMVHKHGLEFYGYIKLINFIRLKNPTVEYMNSIYNPVPWEKEEYLKPVLEDDLLLQFDVEDLYEPVSVPFSYPNGLSENTSVVEKLKHMEARALSAEAALARAREDLQKMKQFAQDFVMHTDVRTCSSSTSVIADLQEDEDGVYFSSYGHYGIHEEMLKDKIRTESYRDFIYQNPHIFKDKVVLDVGCGTGILSMFAAKAGAKKVLGVDQSEILYQAMDIIRLNKLEDTITLIKGKIEEVHLPVEKVDVIISEWM|vpwgwilqlqtirclqlqlrsdanlmkileselsnqtapeflkw* 11BR060 ENSG00000061987.16 ENSG00000258044.1 +/+ +/+ chr12:62547072 chr12:79824990 CDS/splice-site exon/splice-site deletion 2 4 0 34 19 high out-of-frame . Dimerisation_and_cyclophilin-binding_domain_of_Mon2(100%),Domain_of_unknown_function_(DUF1981)(100%),Guanine_nucleotide_exchange_factor_in_Golgi_transport_N-terminal(100%)| . . ENSG00000061987.16 ENSG00000258044.1 ENST00000393630.8 ENST00000548469.1 downstream upstream mismatches(1) ^(GACTCGGCTAATGGCGTCGGCGAGTCTTAGGGGCCTGGGGAGCTGGCGCTGAAGCTTCTTGCCAGGTTGGCTGGTGACACCCGGTGTGGCTGGGCCCCGCGGCAGCGGAGGGACCTGCCCGCCTTGTGGGTTTCTCGGCCAGAGTCGGCGGAGCCTAGCGGGACGGTGCGACTGCGGGGGGCGCCTCCGAGAAAAGCCAGAGGTGTTGCGGGGAAGCTGCTGGGGGACGCTCGAGCAGGCTCCGGGTTCGCAGCCCAGGGCCCAAGAAGCGGGCTGCTGAAGGACCAGAGACACCGGGAGGGAGCTGCCTGTGGCCCTAAGGAGCTGACCGTGCCAGAGCTTGTTTGTACCTCTCGGAAATTGGCTGGGACCTTGGAGGATCATGTCCGGCACCAGCAGCCCCGAGGCGGTGAAGAAGCTGCTGGAGAATATGCAGAGCGACTTGCGCGCCTTGTCACTGGAGTGCAAGAAGAAATTCCCACCTGTCAAAGAG___GCTGCTGAATCAGGAATAATAAAAGTTAAAACAATTGCTGCACGAAACACTGAAATTTTGGCAG___CACTGAAAGAGAACAGCTCAGAGGTTGTACAGCCTTTTTTAATGGGTTGTGGAACCAAGGAACCGAAGATCACTCAGCTATGTTTGGCTGCTATTCAGAGACTCATGTCACATGAAGTCGTGTCTGAG___ACTGCAGCTGGAAATATAATTAACATGCTTTGGCAGCTAATGGAGAATAGTCTTGAAGAACTTAAGCTACTTCAAACAGTTCTTGTTCTTTTAACAACCAATACAGTAGTTCATGATGAGGCACTTTCTAAG___GCAATCGTTCTTTGTTTTCGACTACACTTCACAAAAGATAATATTACAAATAATACAGCTGCTGCTACAGTGCGACAAGTTGTTACTGTTGTTTTTGAGAGGATGGTTGCTGAAGATGAACGACACAGAG___ATATTATAGAACAACCAGTACTGGTACAAGGAAATAGTAACAGAAGATCTGTCAGTACCCTCAAACCTTGTGCTAAAGATGCATATATGCTTTTCCAG___GATCTTTGTCAGTTGGTTAATGCTGATGCTCCTTATTGGCTAGTGGGCATGACAGAAATGACTCGGACGTTTGGCCTCGAATTACTTGAGTCAGTCCTCAATGATTTTCCGCAGGTCTTTTTACAA___CACCAAGAATTTAGTTTCCTCCTCAAAGAAAGGGTATGTCCTCTTGTGATAAAGCTCTTTTCTCCAAATATAAAGTTCAGACAAGGTTCCAGCACCTCATCTTCTCCAGCACCAGTTGAAAAACCATATTTTCCTATCTGCATGCGTTTGCTGAGAGTAGTATCTGTTCTGATTAAGCAGTTTTACAGTCTTTTG___GTAACTGAATGTGAGATATTTCTGTCACTTCTGGTGAAATTTCTGGATGCAGATAAACCACAGTGGCTACGAGCTGTTGCGGTGGAATCAATACACAGATTCTGTGTGCAGCCTCAACTATTAAG___GTCATTTTGTCAGTCCTATGATATGAAACAGCATTCTACCAAGGTTTTTCGTGATATTGTAAATGCACTGGGATCTTTTATACAGTCCTTGTTTCTTGTCCCCCCTACTGGAAATCCTGCAACAAGCAACCAAGCTG___GAAACAATAATTTAGGTGGCTCAGTCTCAGCACCAGCTAACTCAGGAATGGTGGGGATTGGTGGAGGTGTTACTTTGCTACCAGCATTTGAATATAGGGGAACCTGGATACCTATTCTGACAATCACAGTTCAAGGCAGTGCTAAAGCCACCTA___CTTAGAAATGTTGGACAAAGTTGAGCCTCCAACTATACCTGAAGGTTACGCCATGTCTGTGGCATTCCATTGTTTGCTAGACCTTGTTCGTGGAATCACAAGTATGATTGAAGGAGAGCTAGGAGAGCTTGAAACAGAATGTCAAACCACCACTGAAGAAGGTTCTTCACCAACACAGTCGACAGAACAGCAGGATTTACAGTCAACATCAGACCAAATGGATAAGGAAATTG___TTAGTAGGGCTGTTTGGGAAGAAATGGTGAATGCCTGCTGGTGTGGTCTTCTTGCTGCACTCTCACTCCTTCTTGATGCCAG___CACAGATGAAGCTGCCACTGAGAATATTTTAAAAGCTGAACTGACTATGGCTGCTCTTTGTGGAAGACTGGGCCTTGTAACTTCAAGAGATGCCTTTATAACTGCAATATGCAAAGGTTCCCTGCCTCCCCATTATGCTCTTACTGTATTGAATACCACCACTGCAGCTACACTTTCCAACAAAT___CATATTCCGTTCAGGGCCAAAGTGTTATGATGATAAGTCCATCAAGTGAATCTCACCAACAAGTTGTGGCAGTGGGTCAACCTTTAGCAGTCCAGCCTCAAGGGACAGTAATG___CTGACTTCCAAAAATATCCAGTGTATGAGGACTTTACTTAACTTGGCGCATTGCCATGGGGCTGTTCTTGGAACATCATGGCAACTTGTCTTGGCAACTCTTCAG___CATCTTGTGTGGATTCTGGGATTAAAGCCTAGTAGTGGCGGTGCCTTGAAACCTGGGAGAGCTGTAGAAGGACCCAGTACA___GTTCTAACAACAGCAGTGATGACAGATTTACCAGTGATTTCCAATATACTTTCAAGATTGTTTGAAAGCTCACA___GTATCTTGATGATGTATCACTGCATCATTTAATAAATGCACTTTGCTCCTTGTCTCTAGAAGCAATGGATATGGCCTATGGAAATAATAAG___GAACCATCTCTTTTTGCTGTTGCCAAATTGTTAGAAACTGGTTTAGTTAATATGCACCGAATAGAA)ATTCTGTGGAGACCTCTGACTGGCCATCTACTTGAG___GaCTGCCAGCATCCAAACTCTCGAATGAGAGAATGGGGAGCAGAAGCTTTAtCTTCgCTTATTAAAGCAGGATTAACATTTAACCATGATCCTCCACTCTCACAAAACCAG___AGGCTGCAGTTGCTTTTATTGAACCCGTTAAAGGAGATGTCCAATATTAATCATCCAGATATTCGACTCAAGCAGTTAGAATGCGTGTTGCAGATTCTGCAGAGTCAGGGAGACAGTCTTGGGCCTGGATGGCCATTAGTGCTTGGAGTCATGGGAGCAATCAGAAATGATCAAGG|GTACAACCTCTTCATCTTCACAACAACGAATAATGTAGCTGGGACAAGTATCAGAATGATTCTCACTGTACAGATGAAGAAACTCAGTCTGCGTGCATGGTATTTGCCCAAGGTCATACAGGTCATTAAGAGAAAGTGGGAATACAATCTAGGTCTCTACTAGTGTG(TCATTTTGTCTTTATCAAAAATAAAAATAAATTCAGATGGAATTAGGGTAAAAAAAATTCTTGTGTCCATTAATAGCAGAAATAGCTTTGTTATTCATTTAAATCTTTATAATGACAGTTATATTAATCTAAAAACTTGTCTGCTAACCATTGTATTAATTTGGTAAGAGAAATTCCAACCAGAAAAGCATTCTAGTCAATATTTAAAGAAAGAACAATATTAGATACATTCTAGTAAAGCAATTATTTTAATAAATTAAGAAAGCAAATAAAAACCTTTGTATTTAAGGTCTGTATCACATAATTTATAATAATGAATTAAAATGACAGTAAATATGTA)$ MSGTSSPEAVKKLLENMQSDLRALSLECKKKFPPVKEAAESGIIKVKTIAARNTEILAALKENSSEVVQPFLMGCGTKEPKITQLCLAAIQRLMSHEVVSETAAGNIINMLWQLMENSLEELKLLQTVLVLLTTNTVVHDEALSKAIVLCFRLHFTKDNITNNTAAATVRQVVTVVFERMVAEDERHRDIIEQPVLVQGNSNRRSVSTLKPCAKDAYMLFQDLCQLVNADAPYWLVGMTEMTRTFGLELLESVLNDFPQVFLQHQEFSFLLKERVCPLVIKLFSPNIKFRQGSSTSSSPAPVEKPYFPICMRLLRVVSVLIKQFYSLLVTECEIFLSLLVKFLDADKPQWLRAVAVESIHRFCVQPQLLRSFCQSYDMKQHSTKVFRDIVNALGSFIQSLFLVPPTGNPATSNQAGNNNLGGSVSAPANSGMVGIGGGVTLLPAFEYRGTWIPILTITVQGSAKATYLEMLDKVEPPTIPEGYAMSVAFHCLLDLVRGITSMIEGELGELETECQTTTEEGSSPTQSTEQQDLQSTSDQMDKEIVSRAVWEEMVNACWCGLLAALSLLLDASTDEAATENILKAELTMAALCGRLGLVTSRDAFITAICKGSLPPHYALTVLNTTTAATLSNKSYSVQGQSVMMISPSSESHQQVVAVGQPLAVQPQGTVMLTSKNIQCMRTLLNLAHCHGAVLGTSWQLVLATLQHLVWILGLKPSSGGALKPGRAVEGPSTVLTTAVMTDLPVISNILSRLFESSQYLDDVSLHHLINALCSLSLEAMDMAYGNNKEPSLFAVAKLLETGLVNMHRIEILWRPLTGHLLEdCQHPNSRMREWGAEALsSLIKAGLTFNHDPPLSQNQRLQLLLLNPLKEMSNINHPDIRLKQLECVLQILQSQGDSLGPGWPLVLGVMGAIRNDQg|ynlfiftttnnvagtsirmiltvqmkklslrawylpkviqvikrkweynlgly* 11BR060 ENSG00000197372.10 ENSG00000249853.7 -/- -/- chr19:23663032 chr6:114228778 CDS/splice-site 5'UTR/splice-site translocation 1 4 0 77 12 high out-of-frame . KRAB_box(100%)|Sulfotransferase_domain(100%) . . ENSG00000197372.10 ENSG00000249853.7 ENST00000601935.5 ENST00000312719.9 upstream downstream . ^(CGGGATTTGGCGGCGCCTTTGTCTCTCGCTGCAGCCGGAGCTCCAGGTCTCGCTTTCATTGCTCTGTGTCCTCTGCTCCTAGAGGTCCAGCCTCTGTGGGCCTGTGACCTGCAGAAATTGAGAGATCCACAGCTAAGACTCCAGGACCCCCTGGAAGCCTAGAAATG___GGACTGTTGACATTTAGG)GATGTGGCCATAGAATTCTCTCTGGAAGAATGGCAATGCCTGGACACTGCACAGCGGAATTTATATAAAAATGTGATTTTAGAGAACTACAGAAACCTGGTCTTCCTGG|AGATAATCAGATACTCACTGTCTTCAGCATTGGTGTCTTCTATTCTCAACGGCATTTCTGGTGGCCACCCCAGGAGTCTCCCTGACCTGTTTTAAAACCCTTGGAAATTAAGGAGAGAATCCACTACATATATTCCTTTGAAAGTTTCCACCATATATGTTCAAAAATTGCTGAATGAGCACAAGGATTTGAAG___GTGCTAAAGCAAGG(GATAAACCAAAAGGACAGCCAGTAGGTGAGGAGAGGCCATGGAATACCCGCCAACAAGATAATCATCGCTGGAATAATAGGGACCTGTCTGAATGTAG___GCTGCAGCAGTCCTGAAGGTTGATGGAGGGCCATGCTATTCAAACAGCAGGCGTGGCTGAGACAGAAGCTCCTGGTGCTGGGAAGCCTTGCCGTTGGGAGTCTCCTGTATCTAGTCGCCAGAGTTGGGAGCTTGGATAG___GCTACAACCCATTTGCCCCATTGAAGGTCGACTGGGTGGAGCCCGCACTCAGGCTGAATTCCCACTTCGCGCCCTGCAGTTTAAGCGTGGCCTGCTGCACGAGTTCCGGAAGGGCAACGCTTCCAAGGAGCAGGTTCGCCTCCATGACCTGGTCCAGCAGCTCCCCAAGGCCATTATCATTGGGGTGAGGAAAGGAGGCACAAGGGCCCTGCTTGAAATGCTGAACCTACATCCGGCAGTAGTCAAAGCCTCTCAAGAAATCCACTTTTTTGATAATGATGAGAATTATGGTAAGGGCATTGAGTGGTATAGGAAAAAGATGCCTTTTTCCTACCCTCAGCAAATCACAATTGAAAAGAGCCCAGCATATTTTATCACAGAGGAGGTTCCAGAAAGGATTTACAAAATGAACTCATCCATCAAGTTGTTGATCATTGTCAGGGAGCCAACCACAAGAGCTATTTCTGATTATACTCAGGTGCTAGAGGGGAAGGAGAGGAAGAACAAAACTTATTACAAGTTTGAGAAGCTGGCCATAGACCCTAATACATGCGAAGTGAACACAAAATACAAAGCAGTAAGAACCAGCATCTACACCAAACATCTGGAAAGGTGGTTGAAATACTTTCCAATTGAGCAATTTCATGTCGTCGATGGAGATCGCCTCATCACGGAACCTCTGCCAGAACTTCAGCTCGTGGAGAAGTTCCTAAATCTGCCTCCAAGGATAAGTCAATACAATTTATACTTCAATGCTACCAGAGGGTTTTACTGCTTGCGGTTTAATATTATCTTTAATAAGTGCCTGGCGGGCAGCAAGGGGCGCATTCATCCAGAGGTGGACCCCTCTGTCATTACTAAATTGCGCAAATTCTTTCATCCTTTTAATCAAAAATTTTACCAGATCACTGGGAGGACATTGAACTGGCCCTAAAATAATATGTCATACAACACTATGTGTTGTGCCTGGAGACACACAATGTCTCCTGTAGATTAAAATATGCACTTTTCCTAGGCAGAGCTATCCAAGTCATTTTTCCATGTATATTTGTACATACGCAGTGTGTGACCAAATATAAGATCAGTTCTTTTTCTACTGAAAATTTACGAAAAAAAAAAAATTGCTGTCTGCATAGTCGCATCTTTTAAGCTATTTACAAAAGAGAAGAGGTGGTGGTATTGGGGGAAAGTGACTTCAGCTATTCTCAAAGAGTTAGTCTTCCTTTGATTCAGAATTTGTCACCCGCCATTTTCATAGATTTAAGCCAAAAGATAAATGTGTGAAAATGTACCAATGGCTGCGAAGCTTCAGGAAGTAGAGGATCCAGTGATGCATTTTTTTTTTCCTAAGGGAAAGCTGGCTCTTTAATTCAGATGCTGAATTGGTGCCATGAAAACAGAAAATGCTATTTTCTTATTATTTAAAAGAACGTCTTATCTCATAAAATTGACATTGTTCCAAAGTTCTTGTGGTGATTTTGCACTATTGTTTTCTCGTATGGACCATGGTGTCACTTGTAGCATGTCAATCACACATTGGAAAGTCAAGTCCTTTTACTTCCATGTTGTATGTCAACAGAGAGAAATGTCATGTACATAATGTATATTGTTGTAAATACTGGTTTCACACTAAGTAATTCTATTTTGTAAACTGAATATGGCTATTTAATTTATTGTGAAAATTAAATTTATTGTGGTATTTAAAAATGGAATGGATTAAAATTACTCTATGTGCAATTTTTTTTTTTTTTACTCATTTTGTTTTACGTGCCCCCTGCTGGCTTCCAAAATGGAAGCTGTTTACGTGCATATGAGAGCACTTGGAAAGATGTGCTTCCCTGCTGGATTTCTGTACCCCAGTGAAAATGTATTTATGAAGTGAGGTTGAGTATATTAAAAAAGAAAAACCTCAACCATCTGGAAATCAAGTATAATAGCCACCTCAAAGAACCCTAGTGCTGCTCTGCTACAACTTTGTAACAATTAATTTACTCGCAGTTGCTGCTGCTCAGGAAGAGAGACAAGGAATATTTTAACAGAATCAAGGCATAGAAGAATCACCATTTTATTTGAACCTCTAATCAGAGTCAGACCAGTAGAGAAATTAAATAAGATTAGAAAACTCTGTACTGAAAGCTGCTGATGCTTCAAAAATGAAAACAAGATCTCACAACTCTCCCTGTTAGTTGAAAATATATCAATTTGCTCTGAAAGGATTCAGCTGCCTAGTGTTGCCATTACTAACATAAACATATGGCTCATATTTCCATCCAGAGAAATTAATGCTAAATTGGTGCCTCGCTAACATCAGATACACTGTATTATGCTTAAATATATTCAGTAAAATGTGGAAAGGGGTATTAACAACGACAACAAAAAGATGGATTTTTTTTTTCTCACAATCACAGTTGCTAATCCAGTGGGAGATGTTTGAGAGAGTTTTGTTCAACATCACAGTGAGAGTGCCTAGGGAAATCAGAAAATTACAATGGATTCCCCTTTGATTGTAATAAGTGTTGATTTTCTCCATGAGTTGTTTATCCTGTCTAGTGATTTGATGGTGAACTTTTCTAAATAAATAGCCCTTTCCCCTCCGGTGTCGGTA)$ MGLLTFRDVAIEFSLEEWQCLDTAQRNLYKNVILENYRNLVFL|eiiryslssalvssilngisgghprslpdlf* 11BR060 ENSG00000257921.6 ENSG00000257943.2 +/+ -/+ chr12:57783283 chr12:95434469 CDS/splice-site intron deletion/5'-5' 2 3 0 69 22 high out-of-frame . . . . ENSG00000257921.6 ENSG00000257943.2 ENST00000651284.1 . downstream upstream duplicates(1) ^(ACCCCGCTCCGGATCCGGGATCTGAGCGCCGGCCGCGGTGCCCAGGCACTCCCTTGGCGGGCCGGATGGCGGACCCCGGCCCAGATCCCGAATCTGAGTCGGAATCGGTGTTCCCGCGGGAGGTCGGGCTCTTTGCAGACTCTTACTCGGAGAAGAGCCAGTTCTGTTTCTGTGGGCATGTGCTGACCATCACGCAGAACTTTGGGTCCCGCCTCGGGGTGGCGGCGCGCGTGTGGGACGCG___GCCCTGAGCCTGTGCAATTATTTCGAGAGTCAAAATGTGGATTTCCGAGGCAAGAAGGTGATCGAACTGGGTGCGGGGACAGGCATCGTGGGGATCTTGGCAGCGCTGCAGG___GCTGGGTCTCTTCTGCGTCAGTCGCCCCAGCCAAGGCACACATTTTATGCTGGGCCC)CGTCTGTCTGCCTCGGCCTCCAGCAAGGAGCTCCTCATGAAGCTGCGGCGGAAAACAGGCTACTCCTTTGTAAATTGCAAGAAAGCTCTGGAGACTTGTGGCGGGGACCTCAAACAG|ACTATGGAAATGAAGTTACACAAAAAGCAAATTTGAGTGATTTTCATATTCAAGTTCAAAGTGGGTCATAAAGCAGCGGAGACAACTTGAAATATCAACAATGCATTTAGCCCAGGAACGCTAATGAATATATAGTGCAGCGAGGGTTCAAGAAGTTTTGCAAAGGAGAAGAGAGCCTTAAGGATGAGGAG MADPGPDPESESESVFPREVGLFADSYSEKSQFCFCGHVLTITQNFGSRLGVAARVWDAALSLCNYFESQNVDFRGKKVIELGAGTGIVGILAALQGWVSSASVAPAKAHILCWAPSVCLGLQQGAPHEAAAENRLLLCKLQESSGDLWRGPQT|dygnevtqkanlsdfhiqvqsgs* 11BR060 ENSG00000123297.20 ENSG00000257943.2 +/+ -/+ chr12:57783283 chr12:95434469 CDS/splice-site intron deletion/5'-5' 2 3 0 69 22 high out-of-frame . . . . ENSG00000123297.20 ENSG00000257943.2 ENST00000548851.5 . downstream upstream duplicates(1) ^(ATCGCGGCTAGAGAGATGTCGCTGCTGCGGTCGCTGCGCGTGTTTCTGGTCGCGCGGACCGGGAGCTACCCG___GCTGGGTCTCTTCTGCGTCAGTCGCCCCAGCCAAGGCACACATTTTATGCTGGGCCC)CGTCTGTCTGCCTCGGCCTCCAGCAAGGAGCTCCTCATGAAGCTGCGGCGGAAAACAGGCTACTCCTTTGTAAATTGCAAGAAAGCTCTGGAGACTTGTGGCGGGGACCTCAAACAG|ACTATGGAAATGAAGTTACACAAAAAGCAAATTTGAGTGATTTTCATATTCAAGTTCAAAGTGGGTCATAAAGCAGCGGAGACAACTTGAAATATCAACAATGCATTTAGCCCAGGAACGCTAATGAATATATAGTGCAGCGAGGGTTCAAGAAGTTTTGCAAAGGAGAAGAGAGCCTTAAGGATGAGGAG MSLLRSLRVFLVARTGSYPAGSLLRQSPQPRHTFYAGPRLSASASSKELLMKLRRKTGYSFVNCKKALETCGGDLKQ|tmemklhkkqi* 11BR060 ENSG00000120868.14 ENSG00000265861.1(50637),ENSG00000263890.1(5625) +/+ ./+ chr12:98662806 chr12:97989758 CDS/splice-site intergenic duplication 1 3 0 16 9 high out-of-frame . Caspase_recruitment_domain(100%),NB-ARC_domain(100%)| . . ENSG00000120868.14 . ENST00000551964.6 . downstream upstream . ^(AGAGGCGGAGAAGAAGAGGTAGCGAGTGGACGTGACTGCTCTATCCCGGGCAAAAGGGATAGAACCAGAGGTGGGGAGTCTGGGCAGTCGGCGACCCGCGAAGACTTGAGGTGCCGCAGCGGCATCCGGAGTAGCGCCGGGCTCCCTCCGGGGTGCAGCCGCCGTCGGGGGAAGGGCGCCACAGGCCGGGAAGACCTCCTCCCTTTGTGTCCAGTAGTGGGGTCCACCGGAGGGCGGCCCGTGGGCCGGGCCTCACCGCGGCGCTCCGGGACTGTGGGGTCAGGCTGCGTTGGGTGGACGCCCACCTCGCCAACCTTCGGAGGTCCCTGGGGGTCTTCGTGCGCCCCGGGGCTGCAGAGATCCAGGGGAGGCGCCTGTGAGGCCCGGACCTGCCCCGGGGCGAAGGGTATGTGGCGAGACAGAGCCCTGCACCCCTAATTCCCGGTGGAAAACTCCTGTTGCCGTTTCCCTCCACCGGCCTGGAGTCTCCCAGTCTTGTCCCGGCAGTGCCGCCCTCCCCACTAAGACCTAGGCGCAAAGGCTTGG___CTCATGGTTGACAGCTCAGAGAGAGAAAGATCTGAGGGAAGATGGATGCAAAAGCTCGAAATTGTTTGCTTCAACATAGAGAAGCTCTGGAAAAGGACATCAAGACATCCTACATCATGGATCACATGATTAGTGATGGATTTTTAACAATATCAGAAGAGGAAAAAGTAAGAAATGAG___CCCACTCAACAGCAAAGAGCAGCTATGCTGATTAAAATGATACTTAAAAAAGATAATGATTCCTACGTATCATTCTACAATGCTCTACTACATGAAGGATATAAAGATCTTGCTGCCCTTCTCCATGATGGCATTCCTGTTGTCTCTTCTTCCAGTGGTAAAGATTCAGTTAGTGGAATAACTTCGTATG___TAAGGACAGTCCTGTGTGAAGGTGGAGTACCACAGAGGCCAGTTGTTTTTGTCACAAGGAAGAAGCTGGTGAATGCAATTCAGCAGAAGCTCTCCAAATTGAAAGGTGAACCAGGATGGGTCACCATACATGGAATGGCAGGCTGTGGGAAGTCTGTATTAGCTGCAGAAGCTGTTAGAGATCATTCCCTTTTAGAAG___GTTGTTTCCCAGGGGGAGTGCATTGGGTTTCAGTTGGGAAACAAGACAAATCTGGGCTTCTGATGAAACTGCAGAATCTTTGCACACGGTTGGATCAGGATGAGAGTTTTTCCCAGAGGCTTCCACTTAATATTGAAGAGGCTAAAGACCGTCTCCGCATTCTGATGCTTCGCAAACACCCAAG___GTCTCTCTTGATCTTGGATGATGTTTGGGACTCTTGGGTGTTGAAAGCTTTTGACAGTCAGTGTCAGATTCTTCTTACAACCAGAGACAAGAGTGTTACAGATTCAGTAATGG___GTCCT)AAATATGTAGTCCCTGTGGAGAGTTCCTTAGGAAAGGAAAAAGGACTTGAAATTTTATCCCTTTTTGTTAATATGAAGAAGGCAGATTTGCCAGAACAAGCTCATAGTATTATAAAAGAATGTAAAG|GCAAAGAACAAAGAGGGTCTCTTGGAGCTGAAAACAATTCCAAAGCAAG___GTTGGTGCATGCAATGAACCACTTGGAGGCAACTTTCAGTCTGCAAAAGCA MDAKARNCLLQHREALEKDIKTSYIMDHMISDGFLTISEEEKVRNEPTQQQRAAMLIKMILKKDNDSYVSFYNALLHEGYKDLAALLHDGIPVVSSSSGKDSVSGITSYVRTVLCEGGVPQRPVVFVTRKKLVNAIQQKLSKLKGEPGWVTIHGMAGCGKSVLAAEAVRDHSLLEGCFPGGVHWVSVGKQDKSGLLMKLQNLCTRLDQDESFSQRLPLNIEEAKDRLRILMLRKHPRSLLILDDVWDSWVLKAFDSQCQILLTTRDKSVTDSVMGPKYVVPVESSLGKEKGLEILSLFVNMKKADLPEQAHSIIKECK|gkeqrgslgaennskarlvhamnhleatfslqk 11BR060 ENSG00000104660.19 ENSG00000250166.3 +/+ +/+ chr8:30104486 chr12:22618485 CDS/splice-site exon/splice-site translocation 0 3 1 129 16 high out-of-frame . Vacuolar_protein_sorting_55_(100%)| . . ENSG00000104660.19 ENSG00000250166.3 ENST00000523116.5 ENST00000670175.1 downstream upstream . ^(TCGGGTCGTGGAGCCAGGAGCGACGTCACCGCCATGGCAGGCATCAAAG___CTTTGATTAGTTTGTCCTTTGGAGGAGCAATCGGACTGATGTTTTTGATGCTTGGATGTGCCCTTCCAATATACAA___CAAATACTGGCCCCT)CTTTGTTCTATTTTTTTACATCCTTTCACCTATTCCATACTGCATAGCAAGAAGATTAGTGGATGATACAGATGCTATGAGTAACGCTTGTAAGGAACTTGCCATCTTTCTTACAACGGGCATTGTCGTGTCAGCTTTTGGACTCCCTATTGTATTTGCCAGAGCACATCTG|GCCAACCCTGCTTATTCCTGTAAACCAACCAGTGATCTCTGGCTGCTGCTTAGAAGAAACAAGAGGGATGGCTAATTAAACAGGTTGAAGTAAAGGAGCCAGCCCAAACCCACCAAAACCAAAATGGTGACGAGAGTGACATCTGGTCGTCCTCACTGCTACACTCCCACCAGCACCACGAC(AGTTTACAAATTCTATGACAATGTCAGGAAGTTACCCTATGTGGTCTAAAAAGAGGAGGCATGAATAATCCACCCCTTGTTTAGCATATCATCAAGAAATAACCATAAAAATAGGCAATCTGCAGCCCCCAGGCTGCTCTGTCTATGGAGTAGCTGTTCTTTTTTTCTTTTACTTTCTTAATAAACTTCCTTTCACTTTGC)$ MAGIKALISLSFGGAIGLMFLMLGCALPIYNKYWPLFVLFFYILSPIPYCIARRLVDDTDAMSNACKELAIFLTTGIVVSAFGLPIVFARAHL|anpaysckptsdlwlllrrnkrdg* 11BR060 ENSG00000185252.19 ENSG00000074527.13 +/- -/- chr22:20396758 chr12:95670146 intron CDS/splice-site translocation/3'-3' 2 2 0 7 78 high . . |UNC-6/NTR/C345C_module(100%) . . ENSG00000185252.19 ENSG00000074527.13 . ENST00000343702.9 upstream downstream . GGAAAGGAATAAAAAACCCAGACAGTATGCATTGGAATCAGATGCTGATGTGGTAATGACACTAGCAGAGAAGTCAGAACAGACCACACAAGATGTCCCAGGAGACAGAACAACTTGAACT|GTAAATGCGAATGTAAGGAACAGACATTAGGAAATGCCAAGGCATTCTGTGGAATGAAATATTCATATG___TGCTAAAAATAAAGATTTTATCAGCTCATGATAAAGGTACTCATGTTGAGGTCAATGTGAAGATTAAAAAGGTCTTAAAATCTACCAAACTGAAGATTTTCC(GAGGAAAGCGAACATTATATCCAGAATCATGGACGGACAGAGGATGCACTTGTCCAATCCTCAATCCTG___GTTTGGAATACCTTGTAGCAGGACATGAGGATATAAGAACAGGCAAACTAATTGTGAATATGAAAAGCTTTGTCCAGCACTGGAAACCTTCTCTTGGAAGAAAAGTCATGGATATTTTAAAAAGAGAGTGCAAGTAGCATTAAGATGGATAGCACATAATGGCACTTGTCTATGTACAAAACACAAACTTTAGAGCAAGAAGACCTCAGACAGGAAACTGGAATTTTTTAAAGTGCCAAAACATATAGAAATGTTTGAATGCATGGGTCTTATCTAACTTATCTCTTCTGGACCCATGTTTAAATACAGTTTTATTTCATGAAGAGAAATGAAAACCCCTACACTGATATCTGTTTTCTATGGGACTGATTCTGAAATTCTTAACTATTAAGAATATTTTAATAGCAGCATGACATTTAGCAGTAATCCATTAAGGGCAGTACCTCTAACAAGGACGCCTTCCAGCTTCAGCGATGTTACTTACGTTTGATGCTACTTAAAGTAATGAATGACGTTTTAAGGAATCCCTAACCCTACTATCAGAAAAGGTGTTTGTTAAAGAGCCTTCTCTTGTGTGTTACGCATGAACTTTGGTCTGTAGGTGTTAAATGGAACCTCTCCATGTGTATATAGTATTTCCTTGTATAAAGCACTTTACTACCTACCACTTGTGTTGTGAACGTTTGGTGACTGCTGTTGAAAGAAGGAAAAGGGTGTGTGAGAAAGCCTACTGAAGCAGCAGCACTGCCACTACATGTGGACAAAAGTGACCATATAAAAGAAGTTGTGCTATTTAACTCTGAATACTTGGAGAAACTAGGTGAAGATGCAACCAGAAAGGAGAATATGTATGCGTGAAGTCTCAGCTTTGAGCTGGAGGCTAGATTCCAAGATGACAGCCATGATGAAACTTTTTAAAAAACTAAACCAGAAGAGACTTTAAAATAAGAGAAAGAAATCATAAATGTAGACATATGCTTGGCTAAAGGGGAAATGGACTTTAAATTTTAAAGAGCTCATTTGCAATGCACTTGTATACACTTCAAAAATTATTGTAGACACAGAATTTGTTATATTTTTGTGCTTAGTATTTAAACCTGAACATTGAAACAGTTTTCCTCCTTGTCTTTCTTAACAGTAATAGTCATTATATTTACCTGTTTTTTAACACAATGTATGTGATAGTCAAAAAATCACAGTTTTTCATTATTATTCATCTTCTGTACCCACGCATAACCACTATACATAGTTTCTTTTGTACTTGAATATACAAAACATGAACACAGTGCCATATGAATAATTTCACATACAGAACCTTTTTTTCTCTGAAGTCCTGTGGACTTGCAAATATATATATATATTGCTTTGTTAATTTGTTTTTATATTTCATATATGTAATAAAGGAATATGATCTGA)$ . 11BR060 ENSG00000153944.11 ENSG00000258368.2(449184),ENSG00000257173.1(52961) +/+ ./- chr17:57262192 chr12:38025568 CDS/splice-site intergenic translocation 2 1 0 57 2 high out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000153944.11 . ENST00000284073.7 . downstream downstream . ^(GTGCGAGGCAGCGGGGCTGAGCTAAGCCGAGCCCACGTGTGACGGCTCTCGCCGCTGCCCCGGCTCCGCCGCTCGCAGAGAGATTCGGAGGAGCCCGGGCGGGGGGGAGGAGGAGGGGGAGGAGGGAGCGGAGATCTCGGGGCTCGGAGCCGGCCGCCGCTCCGCTCCGATCGCTGTGGGGCTTGGTTTTTTGGGGGTGGGGGGGCGGGGGGGCTCAGATATGGAGGCAAATGGGAGCCAAGGCACCTCGGGCAGCGCCAACGACTCCCAGCACGACCCCGG___TAAAATGTTTATCGGTGGACTGAGCTGGCAGACCTCACCAG___ATAGCCTTAGAGACTATTTTAGCAAATTTGGAGAAATTAGAGAATGTATG)GTCATGAGAGATCCCACTACGAAACGCTCCAG___AGGCTTCGGTTTCGTCACGTTCGCAGACCCAGCAAGTGTAGATAAAGTATTAGGTCAGCCCCACCATGAGTTAGATTCCAAGACG___ATTGACCCCAAAGTTGCATTTCCTCGTCGAGCGCAACCCAAG|GCCTCAATGCCTTCTGAAGTGTCTCCTATGCAGATTCTACATAAAGAGTGTTTCCATACTGCTGAATTAAAA___ATTCTACAAAAAGAGTGTTTCCAAAGTGCTGAATCAAAAGAAAAGATTAtGTCTGTGAGCTGAATCCACATATCACAA MEANGSQGTSGSANDSQHDPGKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLGQPHHELDSKTIDPKVAFPRRAQPK|asmpsevspmqilhkecfhtaelkilqkecfqsaeskekimsvs* 11BR060 ENSG00000139645.10 ENSG00000286069.2 -/- +/+ chr12:56247493 chr12:53848859 CDS/splice-site exon/splice-site inversion 2 1 0 29 6 high out-of-frame . Ankyrin_repeat(100%),Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%)| . . ENSG00000139645.10 ENSG00000286069.2 ENST00000267116.8 ENST00000663306.1 upstream upstream . ^(GCCGCGCTCTCCCTGCAGCCGCCACCGCAGCCGCCGCCTGGGCCGCTCCGTGTCCCCGGTGGAGCCGCCGCCGCCGCCGCCGGGAGCTCGATGCGGACGGAGCCCGGGCCGAGCCATGGGGATCCTCAGCATCACGGACCAG___CCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTG___GACCAAGAGAGGCGAACTCCATTGCATGCTGCTGCCTACGTAGGCGATGTCCCCATCCTCCAGTTGCTACTGATGTCAG___GTGCTAATGTCAATGCTAAGGACACACTGTGGCTGACCCCTCTTCATCGTGCTGCTGCCTCCCGAAACGAG___AAGGTGCTGGGGCTGCTGCTGGCACATTCAGCAGATGTGAATGCCCGGGACAAGCTGTGGCAGACACCACTGCATGTGGCTGCTGCCAACCGGGCCACCAAGTGTGCTGAGGCTCTGGCACCCCTGTTGAGCAGCCTCAACGTGGCTGACAGGAGCGGGCGCAGTGCTCTGCACCATGCAGTGCATAGTGGGCATCTTGAG___ACGGTGAACCTGCTCCTCAACAAGGGAGCCAGCCTGAATGTCTGTGACAAAAAGGAGCGGCAGCCTCTGCATTGGGCAGCTTTTCTAG___GGCACTTGGAGGTCCTAAAACTGCTGGTGGCACGGGGAGCAGACCTCGGCTGCAAGGACCGCAAGGGCTATGGGCTGCTCCATACAGCTGCTGCCAGTGGCCAGATTGAAGTGGTGAAGTACCTGCTTCGGATGGGAGCGGAG___ATCGATGAACCCAATGCTTTTGGAAACACAGCTTTGCACATCGCCTGCTACCTGGGCCAGGATGCTGTGGCTATTGAGCTGGTGAATGCCGGAGCCAATGTCAACCAGCCGAATGACAAGGGCTTCACGCCACTGCATGTGGCTGCAGTCTCCACCAATGGCGCTCTCTGCTTGGAGCTACTGGTTAATAATGGGGCTGACGTCAACTACCAG___AGCAAAGAAGGGAAAAGTCCTCTGCACATGGCTGCAATCCATGGCCGTTTCACACGCTCCCAGATCCTCATCCAGAATG___GCAGCGAGATTGATTGTGCCGACAAATTTGGGAACACGCCACTGCATGTGGCTGCTCGATATGGACACGAGCTGCTCATCAGCACCCTCATGACCAATGGCGCAGATACCGCCCG___GCGTGGCATCCATGACATGTTCCCCCTGCACTTAGCTGTTCTCTTTGGATTCTCTGACTGTTGTCGTAAGCTTCTTTCCTCAG___GTCAGTTGTACAGCATTGTGTCTTCACTCAGCAATGAGCATGTGCTTTCAGCTGGGTTTGACATCAATACACCTGACAACCTTGGCCGTACCTGTCTTCATGCTGCTGCTTCCGGAGG___GAATGTTGAATGTCTTAATTTGCTGTTGAGCAGTGGAGCTGACTTGAGGAGGAGGGACAAATTTGGCAG___GACCCCACTGCACTATGCAGCTGCTAACGGTAGCTACCAGTGTGCAGTAACATTGGTGACTGCTGGGGCAGGTGTCAACGAGGCCGACTGTAAAGGCTGCTCTCCCCTCCACTACGCTGCCGCTTCTGACACTTACAGGAG___AGCGGAACCCCATACACCTTCCAGCCATGATGCCGAAGAGGACGAGCCACTGAAGGAGTCCCGCAGGAAGGAGGCCTTCTT___CTGTCTGGAGTTCTTACTGGATAACGGTGCAGACCCCTCCCTGCGGGACAGGCAGGGCTACACAGCTGTGCACTATGCAGCCGCCTATGGCAACAGACAGAACCTCGAACTG___CTCTTAGAAATGTCCTTTAACTGCCTGGAGGATGTGGAGAGCACCATTCCAGTCAGCCCTTTGCACTTAGCT___GCCTACAACGGTCACTGTGAAGCCTTGAAGACGCTGGCGGAGACGCTGGTGAATCTGGACGTAAGGGACCACAAGGGCCGGACCGCACTCTTCCTGGCCACGGAGCGCGGCTCTACTGAGTGTGTGGAGGTGCTTACAGCCCACGGCGCCTCTGCCCTCATCAAGGAGCGCAAGCGCAAGTGGACACCCCTGCACGCTGCTG___CTGCCT)CTGGCCACACTGACTCCCTGCACTTGCTGATCGACAGTGGGGAACGAGCTGACATCACAGATGTCATGGATGCCTATGGACA___GACCCCACTGATGCTGGCCATCATGAATGGCCATGTGGACTGTGTACATCTGCTGCTAGAGAAAGGATCCACAGCTGATGCTGCTGACCTCCGGGGCCGCACTGCCCTCCACCGCGGG|TTGTCTTTCAGGAGGTGTAGCCTGGTTGTGGCCTGGGGAGTTTGGCTGTTCTGTGTGGTGTGCCTCCACGGTGTGGTCTCCAGTGAGCTGCTCAGCAG(___GTGTAGACCCGGGCAGGGCGAAGCTCTCTGGGCTGTTGACTGTGAGGCCCCTCCCCACCGGTAGATTTCCAAGCCTCTTCAGTTTTGCATTCAGCCACAGCAG___AATCCGAATGAATACTGAGTGCTAAAGGAAGATTTTTAGGTTGAATGAAAAGGATATTGAATAGAAACTTGGACTTATAAGAGTTTCAGAAATG___GTAAACTCCTCCAGGGCAGGACCTGACTCTTCAGAGGAATTTTTTAATCCCCCTCCCCAGAAGTGCCCACGTCAAGGCCATAGTAGAGAAGGAGCTCAAGAGCAATCCCTAAGCAACCACGCTTGGAAGCATCCTGCAACAGAGGGATTTGTTCCAGACTCAGATTTAATCCACTATTACCTTTTCGTAAGACAAGTGTTGTCTGAAGGAGTCTGTGTGTAATTTTGAGACAAAAGGATTGCAGAACTCAGCTCCCAGGTTGTCTCATATCTGATTCTTCGAAAGAGGAAAAGAAGCGAACTCTTCTGCACAATAGCTGAGCAGATAGGAGAGAAAAAGCTTGAAGATTCACAGTGGAGCAAGGCTAATTGGAGCCTTCCTCAGAGCAGCTCAACTATCCCAGTTTTACCTATCCCATTCCTTGCCATTCCCACTTGTAATTCTGTCTTGGCAAGAACACCATACTGAAGGTTCTTAAAGCAGTTTGTAGACTTTAATTAGTTCTGTGGAAAGTCAGTCAAAGCTCAGCCTTCATTCTGCCAACAGAGACAACAGTGGTGGGTGTGGAAGGAAGGCAAGAAGAAGATGGACACCCAGAGCAGTTGTGCAACTTACTGAAGGCCATGTGGATAGGAGGAACTGGGTTTAAAACCCCTGAGTCTTGATAAAAGTGTCTTAGCCTTCTAGATTCCTAAACAGGTAGTGGGCTCATCCTACTAACCTACTTTGCTAGGGTGTTGTTGATGAATGCTTATAAACCCTGTCCTAGATGATAGGTTTGGAAGATTGTTAAAGAAAGCATGTCATTAAGTCCCTACTCACCCCCTCCTTGACAAATAGCCCTGGAGGGAAATGAATATTAGCCAGAATCGTAGGGCCTCCACTTCAATGGAATGAACTGAGATTCAACAACAAGAGAAATGTTCCAACAGTGAGGGAAATCAACAATGTGCTGGGGGTGAAGGGTAGGGGTTGGGAAGGCCTAAACAGGTGACCATTGCCAGACAGCCCAGACAAGATCATCACAGAATAGCTGATTCCCATTAGACACTGTGGGTGATCATTATCTTAAAATTCAGGACACTATTTTTGTAGTAGTTTCCCTTCCTCTCTTTGTAAGAGCAGAAGACCTCTCTGGGGCCTATCACAAGACAAGCGGGTGTTTGCAAATGAGGGACGTACTTTGAGACTGAATTGCTCTGTGCTTCTCTAAAAGACATGGTTAAGAGTTTGGGCGCTGATGTTAGAGACTGAGATTAAAATCCTTCCTTGCCACTTCCATCAGTATAAATTTGGATAAGTTTCTTAACTTCTCTAAGCCTTGATTTTCTCACCTATAAAATGGGCCTAATAATAGTGCCTAACTTAGAGGTTTGTTGTAAAGGTTAAATGCAATTATTCAGGTAAAGCCTTAATGGAGCCTGATATGTAGTAAGCACTCAATCCATTTTATCTACTGACTCTTTTCTCTGTGTGGGTTACCCACTTTGGAGATTGTCCCCAGTAATTTCTTTGGTCAAGTCTTGATCTCCCTGGCCCCTTGGCTGTCTTCTCCCACCATGATCAGTGAGAAGTTGAGGAGCACTAATACCAAATTCTTTTTCATGTTAGTTAGGAGAAAGCAGAATTACGAAGGTCAACCTGCTGGTGTAAAAAAATATTACATAGATTAGCCCTGCTCTACATATTAGATATGTTCTCAAAATGCCTAAGTGGCCTTTTTTTTTTTTTTTAATTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATGTGTATACATGTGCCATGTTGGTGTGTGGCACCCATTAACTTGTCATTTACATTAGGTATATCTCCTA)$ MGILSITDQPPLVQAIFSRDVEEVRSLLSQKENINVLDQERRTPLHAAAYVGDVPILQLLLMSGANVNAKDTLWLTPLHRAAASRNEKVLGLLLAHSADVNARDKLWQTPLHVAAANRATKCAEALAPLLSSLNVADRSGRSALHHAVHSGHLETVNLLLNKGASLNVCDKKERQPLHWAAFLGHLEVLKLLVARGADLGCKDRKGYGLLHTAAASGQIEVVKYLLRMGAEIDEPNAFGNTALHIACYLGQDAVAIELVNAGANVNQPNDKGFTPLHVAAVSTNGALCLELLVNNGADVNYQSKEGKSPLHMAAIHGRFTRSQILIQNGSEIDCADKFGNTPLHVAARYGHELLISTLMTNGADTARRGIHDMFPLHLAVLFGFSDCCRKLLSSGQLYSIVSSLSNEHVLSAGFDINTPDNLGRTCLHAAASGGNVECLNLLLSSGADLRRRDKFGRTPLHYAAANGSYQCAVTLVTAGAGVNEADCKGCSPLHYAAASDTYRRAEPHTPSSHDAEEDEPLKESRRKEAFFCLEFLLDNGADPSLRDRQGYTAVHYAAAYGNRQNLELLLEMSFNCLEDVESTIPVSPLHLAAYNGHCEALKTLAETLVNLDVRDHKGRTALFLATERGSTECVEVLTAHGASALIKERKRKWTPLHAAAASGHTDSLHLLIDSGERADITDVMDAYGQTPLMLAIMNGHVDCVHLLLEKGSTADAADLRGRTALHRG|lsfrrcslvvawgvwlfcvvclhgvvssellsrcrpgqgealwavdceapphr* 11BR060 ENSG00000108175.17 ENSG00000241878.11 +/+ -/- chr10:79293653 chr22:31623849 CDS/splice-site CDS/splice-site translocation 1 1 1 149 53 high out-of-frame . |Phosphatidylserine_decarboxylase(100%) . . ENSG00000108175.17 ENSG00000241878.11 ENST00000334512.10 ENST00000266095.9 downstream downstream . ^(ACTTACTCACCCCCTAACGCCGAGTTCCTTTTCACTGTCTGTGGACATTAAAAAAGCGAGCGGCGGCGGCGGGCGCCGGGGAGAGCGGGCGGCCGGGCGGCAGGCGGGCGAGCAGCGATCGGGCGGCCGAGCGAGCGAGCAACGCCGGCGCAGCGCGGTGACCCCAGCCCCAGCCGGCGCGGAGCAGGAGCCGGAGCCGAGCGGATCTCGGCGCCCTCGCTGCGCTCCTCCCGGCCCGAGCCTGCCCTACCCGGCGGTGGCGGCGGCGCGTCCTCCAGCGGCGGCAGCGGCGCTCGCAGCGCCCG___GACTCACGGCAGCTGTGTTCTGATTTCGTACTACTGCTGGGGCTGCCACCTCCTCCTCCAGACGCTCTCAGCAGACTTGAGTCCTGGTCCTTCTGCAGAGGCCTGAGCAG___GAGGAAGAGGAGGAGGCCCGTTGGCGTCGGACCAATGCTGCAAGGGGTGTGAGGAGAGGAGCCGCTGTTTTTCACTGAGCTGCCATACCCCGAAAG___CAGGATGGAGCTGGAGTGAGGTGGAGGGGCCGCAAGCTGCTGACCGGCGTGTGGAACACTGGTGGTTTGCAGATCACTGAG___GCTGGACAACGTTCATGGCTCTCGGGTAGAACCTAGTGAAACGGCCAGAATGAATTCTATGGACAGGCACATCCAGCAGACCAATGACCGACTGCAGTGCATCAAGCAG___CACTTACAGAATCCTGCCAACTTCCACAATGCCGCCACGGAGCTGCTGGACTGGTGCGGAGACCCACGGGCCTTCCAGCGGCCCTTCGAGCAGAGCCTGATGGGCTGTTTGACG___GTGGTCAGTCGGGTGGCAGCCCAGCAAGGCTTTGACCTGGACCTCGGCTACAGACTGCTGGCTGTGTGTGCTGCAAACCGAGACAAGTTCACCCCGAAGTCTGCCG___CCTTGTTGTCCTCCTGGTGCGAAGAGCTCGGCCGCCTGCTGCTGCTCCGACATCAGAAGAGCCGCCAGAGCGATCCCCCTGGGAAACTCCCCATGCAGCCCCCTCTCAGCTCCATGAGCTCCATGAAACCCACTCTGTCGCACAG___TGATGGGTCGTTCCCCTATGACTCTGTCCCTTGGCAGCAGAACACCAACCAGCCTCCCGGCTCCCTTTCCGTGGTCACCACGGTTTGGGGAGTAACCAACACATCCCAGAGCCAG___GTCCTTGGGAACCCTATGGCCAATGCCAACAACCCCATGAATCCAGGCGGCAACCCCATGGCGTCGGGCATGACCACCAGCAACCCAGGCCTCAACTCCCCACAGTTTGCGGGGCAGCAGCAGCAGTTCTCAGCCAAGGCTGGCCCCGCTCAGCCCTACATCCAGCAGAGCATGTATGGCCGGCCCAACTACCCCGGCAGCGGGGGCTTTGGGGCCAG___TTACCCTGGGGGTCCTAACGCCCCCGCAGGCATGGGCATCCCTCCGCACACCAGGCCGCCTGCTGACTTCACTCAGCCCGCGGCAGCCGCTGCAGCAGCGGCAGTGGCAGCAGCAGCAGCCACAGCTACAGCCACAGCCACGGCCACTGTGGCAGCCCTGCAGGAGACACAGAACAAGGATATAAACCAGTATGGACCG___ATGGGTCCCACCCAGGCGTATAACAGCCAATTCATGAACCAGCCCGGGCCGCGGGGGCCTGCCTCCATGGGGGGCAGCATGAACCCCGCGAGCATGGCGGCTGGCATGACGCCCTCGGGGATGAGCGGCC)CTCCCATGGGCATGAACCAGCCCCGGCCGCCCGGCATCAGCCCCTTTGGCACACACGGGCAGCGGATGCCCCAGCAGACCTACCCGGGCCCCCGGCCCCAGTCCCTTCCTATTCAGAACATAAAGAGGCCATACCCTGGAGAG|GTTGCACTTCCCCCAGCTGGCCCTGAGGCGGAGGCTGGGGCAGCTGAGCTGCATGTCCAGACCCGCTCTGAAACTGCGCTCCTGGCCCTTGACCGTCCTCTACTACCTCCTGCCCTTCGGCGCCCTCAGACCGCTCAGCCGGGTGGGATGGAGGCCC(GTAAGCAGG___GTGGCTTTGTACAAGTCAGTGCCAACGCGCTTGCTGTCACGGGCCTGGGGTCGCCTCAATCAGGTGGAGCTGCCACACTGGCTGCGCAGGCCCGTCTACAGCCTGTACATCTGGACGTTTGGGGTGAACATGAAAGAGGCCGCTGTGGAGGACCTGCATCACTACCGCAACCTCAGCGAGTTCTTCCGGCGCAAGCTGAAGCCGCAGGCCCGGCCTGTCTGTGGCCTGCACAGCGTG___ATTAGCCCATCGGATGGAAGGATCCTCAACTTTGGGCAGGTGAAGAACTGTGAGGTGGAGCAGGTAAAGGGGGTCACCTACTCCCTGGAGTCGTTCCTGGGCCCGCGTATGTGCACAGAGGACCTGCCCTTCCCACCAG___CCGCGTCGTGTGACTCCTTCAAGAACCAGCTGGTCACCCGGGAAGGGAATGAGCTCTATCACTGTGTCATCTACCTGGCCCCTGGGGACTACCACTGCTTCCACTCCCCCACCGACTGGACTGTGTCCCACCGGCGCCACTTCCCAG___GCTCCCTGATGTCAGTGAACCCTGGCATGGCTCGCTGGATCAAAGAGCTCTTCTGCCATAACGAGCGGGTGGTCCTGACGGGGGACTGGAAACATGGCTTCTTCTCACTGACAGCTGTGGGGGCCACCAACGTGGGCTCCATTCGCATCTACTTTGACCGG___GACCTGCACACAAACAGCCCAAGGCACAGCAAGGGCTCCTACAATGACTTCAGCTTCGTGACGCACACCAATAGAGAGGGCGTCCCCATGCGTAAGGGCGAGCACCTGGGCGAGTTCAACCTGGGCTCCACCATCGTGCTCATCTTCGAGGCCCCCAAGGACTTCAATTTCCAGCTGAAAACAGGACAGAAAATCCGCTTTGGGGAAGCCCTGGGCTCGCTCTAGAGTCTCTTTCCTGATTATGGCTGCTAAGGGATCTTTTCCAAACAGAGTGAGGGTCTTTTCAAGAGGGAGGCCCATGAGGCCATCCAGGTAAGGGCCTGCCTCAGCGTGGTTGGGAGTCTGACCAGGTAGGACTTGAATGATTCGGCTACCACCTGTTCCAGAGGTGCAGACAAGAGGTGGCGAGAGCCCCCATCATGCCCCTCAACCTATCCCGTTCCTTCTGCCTACAAATAAAAAGTGCAGGCTGGAATGATCTCAGTCACATTTGGATCTTTTTAAACACTGTATAGACGGAAGAGCCTGCATTCCTGACCGAACCTTCAGTTGGTCTCGGTTGTCGTTTTTTCTTGCTGCTCCTCCCCCCATCACCTGAGCTGTTTTCTGTTGGCCCCTTTTGTTTTTTGGCCTTAACGCTCCTGCTGCACAGGGTGAGGTGCCTCCTTGGCACAGACTGTGGATGCCTCTCCCCCAGCAGAGCCACACAGCCTTCGTGACAACTGCTTTCCGTTCCCACATTCACCTCATCCTGCTCTTTAGAAAAAGCAGTCTTTGTGCTTGTGGCTGAACGCATCACCCTGGACTCTGCTAGTGTCTTCTGAGGACACTGATGACACTGATTAATGATACAGACCTTTGCAGGACCTGATGAGTGACCCTTCTGGAGCTGGCCAGGTCCTCTGCAGCAGGCAAGACCAATCAATCACTGAACCTGCCTCATGGCACCAGAGTGAACAGGGCAGGCAGGTAGTAGGCCCAGCTGGGGAAATGGGAGAGTTCCTGTCCCCCTCCACATATCCCTACATGAAATATGGGAAAGTTGCTGCTATTGATTCAGGGTCTGTCTTGGAGGCAGAGGACCCTTGGTGGATAGTTGGTCAGTGCCTGGAAAACCTGTCCCAGTTTATCAGGAACGCAGGCCTGGGGAGCCCCCAGTGGCGGGGACAGGGCCAGATTTCATGTTGACCCTGGGGATGCTGTGAATTTCTCCTGCAGGAGAGACATCATTGAATTTTTTCAACTGTATCAGTAGCACAGTATTTTTGTATGAAAAGTGGGAGACTTCTGAACAGTAATTCATTTAATTGCAAAGCATTTTG)$ MNSMDRHIQQTNDRLQCIKQHLQNPANFHNAATELLDWCGDPRAFQRPFEQSLMGCLTVVSRVAAQQGFDLDLGYRLLAVCAANRDKFTPKSAALLSSWCEELGRLLLLRHQKSRQSDPPGKLPMQPPLSSMSSMKPTLSHSDGSFPYDSVPWQQNTNQPPGSLSVVTTVWGVTNTSQSQVLGNPMANANNPMNPGGNPMASGMTTSNPGLNSPQFAGQQQQFSAKAGPAQPYIQQSMYGRPNYPGSGGFGASYPGGPNAPAGMGIPPHTRPPADFTQPAAAAAAAAVAAAAATATATATATVAALQETQNKDINQYGPMGPTQAYNSQFMNQPGPRGPASMGGSMNPASMAAGMTPSGMSGPPMGMNQPRPPGISPFGTHGQRMPQQTYPGPRPQSLPIQNIKRPYPGE|valppagpeaeagaaelhvqtrsetallaldrpllppalrrpqtaqpggmearkqggfvqvsanalavtglgspqsggaatlaaqarlqpvhldvwgehergrcggpaslpqpqrvlpaqaeaagpaclwpaqrd* 11BR060 ENSG00000184863.11 ENSG00000102468.10(145857),ENSG00000234590.1(264149) +/+ ./- chr7:155644919 chr13:47042933 CDS/splice-site intergenic translocation 0 1 1 28 15 high out-of-frame . . . . ENSG00000184863.11 . ENST00000401878.8 . downstream downstream . ^(GGGCGCGGGCGCGCGGCCATGTTGCGGTAGTTTGTTGTTTTCTTCCTGCGGAGGCGAAGGGCCAGCTGTGGACCGCGAAGCGCCCGGCTTCGCCTCTGCCT)CCTGCAGCCCCCTCCCTTCcCTGTCCTCCGTCACCCGTACCCGGGCCCGGACCAGGCACGTCGGCCCACCAGCTGGCTTGGTGGGGGAGGCTGAAGGCCGGGCCCCGCGAGTGCCATGGCGGCCGCCCTGGGAGCGAGCGGAGGAGCAGGCGCCGGAG|CCCCTGGAAACCACCATTTCATTCTTTGGTTCTGTAAATTTTGAGCACTTTTCTATGCCTCAG___GTCAGACAACCGGCAACTGGCAGACAACTGGAAAACATGGACACATCCTGAGGTGGGAGCTCCTCCTTCTTGCTGCACTGTTGAACTGCTCCTATAGTCTTGGATAAGACTAAGTACTGGGTCCTGAGATCACACTAACACCTGGGACAATTGCTTTAGGGAC MAAALGASGGAGAG|apgnhhfilwfckf* 11BR060 ENSG00000104299.15 ENSG00000253499.2(433970),ENSG00000253756.1(38772) -/- ./- chr8:28812327 chr8:114752881 CDS/splice-site intergenic duplication 1 1 0 36 2 high out-of-frame . Metallo-beta-lactamase_superfamily_domain(100%)| . . ENSG00000104299.15 . ENST00000416984.6 . upstream downstream . ^(GAAAGGGGAGTCGGAGCCGTCGGGACTACACATCCCAGAACACCATGGGCCCCAGGCCCGTAAGGAAGACATGATATCATGCTGGGGTGGAGAGGGAGGATGCATTGGCGGCTGGGATGAATTTGAGCTGACGGAAGGAGGCGTTCGGAGAGGAAAGGGAGGAAAAGGAAAGGCGACCACAGTTCCCATGATGCCTGGAGGGGAGACTACATTTCCCATTATTCCCCTGGAAGGGACGTGAGGATGAAAGACTGCAAGTCCCGCGATGCTCTCGGCTGGCAGGTGGCGGAGATTGCACCGGAAGACGCTTCCTGGGTTTGAGGAGTTCAGTGACTGCTATTGAACCACCAAAAGTCCATTATGAAACTG___TATTGCCTGTCAGGGCACCCAACCTTACCATGCAATGTGCTCAAATTCAAATCAACCACCATTATGTTGGACTGCGGACTGGACATGACTTCTACCCTCAATTTCCTTCCTTTGCCACTTGTTCAAAG___TCCCAGGCTGTCCAATCTTCCTGGCTGGTCCCTGAAGGATGGAAATGCTTTCTTGGACAAG___ACGGAGCTAATAGATCTGTCTACAGTAGATGTGATTCTCATCTCTAACTATCACTGTATGATGGCGCTGCCATACATCACCGAGCACACCGGCTTCACAGGCACAGTGTATGCCACGGAACCCACCGTCCAGATCGGCAG___GCTTCTCATGGAAGAGCTGGTGAATTTCATTGAAAGAGTGCCAAAGGCTCAGTCTGCCTCCTTGTGGAAGAATAAGGACATTCAGAG___GCTGTTACCTTCTCCTCTCAAGGATGCAGTGGAAGTCTCAACCTGGAGAAGATGCTATACAATGCAAGAGGTGAACTCTGCCCTTAGTAAAATCCAGCTGGTGGGATATTCTCAGAAAATT___GAGCTTTTTGGTGCGGTCCA)GGTGACTCCTCTGAGCTCTGGCTATGCCCTTGGGAGCTCCAACTGGATCATCCAGTCTCATTACGAGAAAGTGTCTTATGTCTCTGGATCCTCCTTGCTTACCACACACCCCCAG|AGCCAGAGTCTCATTTGGTCATCCAGGCTAGAGTGCAATGGTGCAATCATAGCTCACTATAGCCTCAAACTTTTGGACTCAAGTGATCGTCCTGCCTCAGCCCACTGAGTAGCTGGAACTACAGATGTGCGTCACCATGCCTGGCTTGGG MKLYCLSGHPTLPCNVLKFKSTTIMLDCGLDMTSTLNFLPLPLVQSPRLSNLPGWSLKDGNAFLDKTELIDLSTVDVILISNYHCMMALPYITEHTGFTGTVYATEPTVQIGRLLMEELVNFIERVPKAQSASLWKNKDIQRLLPSPLKDAVEVSTWRRCYTMQEVNSALSKIQLVGYSQKIELFGAVQVTPLSSGYALGSSNWIIQSHYEKVSYVSGSSLLTTHPQ|sqsliwssrlecngaiiahyslklldssdrpasah* 11BR060 ENSG00000134014.17 ENSG00000253756.1(479249),ENSG00000104447.12(137318) +/+ ./+ chr8:28189818 chr8:115271178 3'UTR intergenic deletion 8 8 0 51 16 medium stop-codon . Acetyltransferase_(GNAT)_family(100%),Radical_SAM_C-terminal_domain(100%),Radical_SAM_superfamily(100%)| . . ENSG00000134014.17 . ENST00000521015.5 . downstream upstream duplicates(1) ^(CGAAGCTTCAGGAGACCTATCCTCATCTGTGCAAGGAGGAGTGGCCAACTCTGGAGCCCAGGCTGTTGCTTCCTGGTCTGGTGGTGAATCCTCCATAGTCTG___GAGATCTCAGCCCTGCTGAGCTGATGATGCTGACTATAGGAGATGTTATTAAACAACTGATTGAAGCCCACGAGCAGGGGAAAGACATCGATCTAAATAA___GGTGAAAACCAAGACAGCTGCCAAATATGGCCTTTCTGCCCAGCCCCGCCTGGTGGATATCATTGCTGCCGTCCCTCCTCAGTATCGCAAGGTCTTGATGCCCAAGTTAAAGGCGAAACCCATCAGAACTGCTAGTGGG___ATTGCTGTCGTGGCTGTGATGTGCAAACCCCACAGATGTCCACACATCAGTTTTACAGGAAATATATGTGT___ATACTGCCCTGGTGGACCTGATTCTGATTTTGAGTATTCCACCCAGTCTTACACTGGCTATGAG___CCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAG___TTAAAACAACTTGGTCATAGTGTGGATAAAGTGGAGTTTATTGTGATGGGTGGAACGTTTATGGCCCTTCCAGAAGAATACAGAGATTATTTTATTCGAAATTTACATGATGCCTTATCAGGACATACTTCCAACAATATTTACGAGGCAGTCAA___GTATTCTGAGAGAAGCCTCACAAAGTGTATTGGAATTACTATTGAAACCAGACCAGATTACTGCATGAAGCGACATTTAAGTGACATGTTGACCTATGGCTGCACAAGGCTGGAGATTGGGGTGCAGAGTGTTTATGAAGATGTGGCTAGAGACACCAACAG___GGGCCACACTGTGAAGGCAGTGTGTGAGTCATTTCACCTGGCCAAAGATTCCGGTTTTAAAGTGGTGGCCCATATGATGCCTGACCTGCCAAACGTGGGACTAGAAAGAGACATTGAACAGTTCACA___GAGTTTTTTGAGAACCCTGCTTTTCGTCCCGATGGGCTGAAACTCTATCCTACCCTGGTGATTCGTGGGACCGGGCTTTATGAGCTTTGGAAATCAGGAAGATATAAGAGTTACTCTCCTAGTGACCTGGTTGAATTGGTGGCTCGGATCCTAGCCCTCGTGCCTCCATGGACTCGAGTGTACCGAGTACAGAG___GGATATTCCAATGCCTTTAGTTAGCTCAGGAGTAGAGCATGGTAACCTGAGAGAGCTGGCACTTGCAAGAATGAAAGACCTCGGAATACAG___TGTCGAGATGTGAGAACCAGAGAAGTTGGAATCCAAGAAATTCATCACAAAGTACGGCCATACCAG___GTTGAATTGGTAAGGAGAGATTATGTTGCAAATGGTGGCTGGGAAACATTCTTGTCATACGAAGACCCAGATCAAGACATTTTGATTGGCCTCCTACGATTACGCAAGTGTTCAGAAGAAACTTTCCGTTTCGAATTGGGTGGAGGTGTCTCCATAGTACGAGAGCTGCATGTGTATGGGAGTGTGGTCCCTGTGAGCAGCCGGGATCCTACTAAATTTCAGCATCAG___GGATTTGGCATGCTGCTGATGGAGGAAGCAGAAAGAATAGCTAGAGAAGAACATGGGTCTGGGAAAATCGCTGTGATATCAG___)GGGTCGGCACCAGGAATTATTATAGAAAGATCGGCTACAGATTACAAGGCCCGTACATGGTGAAGATGCTGAAATAATGGCCACACCAGTCCACTCTTCTGCAGTATCCTCCCTGGCAGAACACGGAGAATCAGGATTTCTTAAATACTCAACAGAGAGGCTGAGCAGAG|AAGCAATCAGAAAAGAAGCTTTATTTGCTGGTTTACTAATCTGCCTACATCTGgACTCcCATATTTGTTTTTTCCTCCATCTAGAATAAATAAAATATTGGTGCACTACTTAAGGCCCATCACTCCAGCTGGGCACCAGAACCCGTTAACTCCCTCTACTGAATAATACAATTTTAGCAATATTTTCAGGCTCTCTTCTCCCATTACCTTGTTCCTCTCTATTGGGTAATCGCATCAGCC . 11BR060 ENSG00000222777.1(10169),ENSG00000273576.1(10502) ENSG00000094804.12 ./+ +/- chr17:39556413 chr17:40301021 intergenic CDS inversion 8 4 0 658 995 medium . . . . . . ENSG00000094804.12 . . downstream downstream mismatches(1) CTGCAATCCAGACAGCACATGCAGCAGCTCAA___ATGTGAAAAACAAGACCCAGAGAGGGGAAATCATTTGAATCCTGTCCTGGTATTGCTTTGTGTTCCTGGATTTGGAGAATTTCTGGGAACACAGGAAAAGGAAAG___...AGTGAATGCCACCAGGATCTGAACCCAAGATTCCAGCCTCGGTCACCACCCTGACCCTGAGAATGCCACTGGGATGGGGAGAACTTGTCAGTCTTCATCCTTCCCCACAAGTATACTGAAGCCAGGACAG|AGTGACCTCTTTGATTTTCAACTGCCTGATCAAGAGCATCAAAGAGCAAACCAAGATCTTCTGCTGAAGAGGGAAGGAATCTTGTGCTCCTTCTTGGCTCAAGGTCATCCTGTTACCATCAAtTTCTGAGATGACTTGGGATATGTGAATAAGACCAACCCTCTTGGGAATCAGAGGCTCAGAAG . 11BR060 ENSG00000141738.14 ENSG00000141738.14(5416),ENSG00000161405.17(5011) +/+ ./- chr17:39746186 chr17:39752707 CDS intergenic inversion 8 3 0 1203 10 medium out-of-frame . BPS_(Between_PH_and_SH2)_(100%),PH_domain(100%),Ras_association_(RalGDS/AF-6)_domain(100%),SH2_domain(100%)| . . ENSG00000141738.14 . ENST00000309156.9 . downstream downstream duplicates(1),mismatches(1) ^(AGTTTCCTTGGGCCTGGAATCTGGACACACAGGGCTCCCCCCCGCCTCTGACTTCTCTGTCCGAAGTCGGGACACCCTCCTACCACCTGTAGAGAAGCGGGAGTGGATCTGAAATAAAATCCAGGAATCTGGGGGTTCCTAGACGGAGCCAGACTTCGGAACGGGTGTCCTGCTACTCCTGCTGGGGCTCCTCCAG___GACAAGGGCACACAACTGGTTCCGTTAAGCCCCTCTCTTGCTCAGACGCCATGGAGCTGGATCTGTCTCCACCTCATCTTAGCAGCTCTCCGGAAGACCTTTGCCCAGCCCCTGGGACCCCTCCTGGGACTCCCCGGCCCCCTGATACCCCTCTGCCTGAGGAGGTAAAGAGGTCCCAGCCTCTCCTCATCCCAACCACCGGCAG___GAAACTTCGAGAGGAGGAGAGGCGTGCCACCTCCCTCCCCTCTATCCCCAACCCCTTCCCTGAGCTCTGCAGTCCTCCCTCACAGAGCCCAATTCTCGGGGGCCCCTCCAGTGCAAGGGGGCTGCTCCCCCGCGATGCCAGCCGCCCCCAT___GTAGTAAAGGTGTACAGTGAGGATGGGGCCTGCAGGTCTGTGGAGGTGGCAGCAGGTGCCACAGCTCGCCACGTGTGTGAAATGCTGGTGCAGCGAGCTCACGCCTTGAGCGACGAGACCTGGGGGCTGGTGGAGTGCCACCCCCACCTAGCACTGG___AGCGGGGTTTGGAGGACCACGAGTCCGTGGTGGAAGTGCAGGCTGCCTGGCCCGTGGGCGGAGATAGCCGCTTCGTCTTCCGGAAAAACTTCGCCAAGTACGAACTGTTCAAGAGCTCCCCA___CACTCCCTGTTCCCAGAAAAAATGGTCTCCAGCTGTCTCGATGCACACACTGGTATATCCCATGAAGACCTCATCCAG___AACTTCCTGAATGCTGGCAGCTTTCCTGAGATCCAGGGCTTTCTGCAGCTGCGGGGTTCAGGACGGAAGCTTTGGAAACGCTTTTTCTGCTTCTTGCGCCGATCTGGCCTCTATTACTCCACCAAGGGCACCTCTAAG___GATCCGAGGCACCTGCAGTACGTGGCAGATGTGAACGAGTCCAACGTGTACGTGGTGACGCAGGGCCGCAAGCTCTACGGGATGCCCACTGACTTCGGTTTCTGTGTCAAG___CCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAG___TACGGGGTGCAGCTGTACAAGAATTACCAGCAGGCACAGTCTCGCCATCTGCATCCATCTTGTTTGGGCTCCCCACCCTTG___AGAAGTGCCTCAGATAATACCCTGGTGGCCATGGACTTCTCTGGCCATGCTGGGCGTGTCATTGAGAACCCCCGGGAGGCTCTGAGTGTGGCCCTGGAGGAGGCCCAGGCCTGGAGG___AAGAAGACAAACCACCGCCTCAGCCTGCCCATGCCAGCCTCCGGCACGAGCCTCAGTGCAG___CCATCCACCGCACCCAACTCTGGTTCCACGGGCGCATTTCCCGTGAGGAGAGCCAGCGGCTTATTGGACAGCAGGGCTTGG)TAGACGG___CCTGTTCCTGGTCCGGGAGAGTCAGCGGAACCCCCAGGGCTTTGTCCTCTCTTTGTGCCACCTGCAGAAAGTGAAGCA|GCCGTGTGAGAGGGTGTCAGATGACATCATAACTCAACCCACATGGGATTGAATTTCAGGCCTCATCCCCATTTCCCCACACCGCCCCTTCTTGTATGGTGAACTTCGAGAACGCTTGTGGAGCAGCCTCAGCCCGCCCTCCCCACACCCCAGGATCGCCCAC MELDLSPPHLSSSPEDLCPAPGTPPGTPRPPDTPLPEEVKRSQPLLIPTTGRKLREEERRATSLPSIPNPFPELCSPPSQSPILGGPSSARGLLPRDASRPHVVKVYSEDGACRSVEVAAGATARHVCEMLVQRAHALSDETWGLVECHPHLALERGLEDHESVVEVQAAWPVGGDSRFVFRKNFAKYELFKSSPHSLFPEKMVSSCLDAHTGISHEDLIQNFLNAGSFPEIQGFLQLRGSGRKLWKRFFCFLRRSGLYYSTKGTSKDPRHLQYVADVNESNVYVVTQGRKLYGMPTDFGFCVKPNKLRNGHKGLRIFCSEDEQSRTCWLAAFRLFKYGVQLYKNYQQAQSRHLHPSCLGSPPLRSASDNTLVAMDFSGHAGRVIENPREALSVALEEAQAWRKKTNHRLSLPMPASGTSLSAAIHRTQLWFHGRISREESQRLIGQQGLVDGLFLVRESQRNPQGFVLSLCHLQKVKq|pcervsddiitqptwd* 11BR060 ENSG00000131748.16 ENSG00000218336.9 +/- +/- chr17:39663200 chr4:182344838 3'UTR intron translocation 8 1 0 858 8 medium . . . . . ENSG00000131748.16 ENSG00000218336.9 . . upstream downstream . GCCACCCACTCCCCAACAAGGGTCCCAGACTCTTTCAATAATCCTAAAAAAACCGACGAGAGCGCAGGCAGATGAAGAGCCCCTTCATCTTCACACGGGTGACAGGCTGCCCTGCCCTGCCCAGGGCCCTGGTCCTCCCCAGCCAAGTCAGGTGCCCAGCC|GAGCTTACCCACTGCTATTTATATGTCACTTGTAACATACGGGAGGACTCTAAAACGTGTAGATATTGCCATCAAACATGCTGATTTTTCAAAATAAGGATGCAAAATAATTTTTAAAGAGG . 11BR060 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 3 3 0 23 11 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTT)CCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGG...___GTGCCGCACCATTCCAAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksss 11BR060 ENSG00000125686.12 ENSG00000161405.17 -/- -/+ chr17:39439165 chr17:39806883 CDS/splice-site intron inversion/5'-5' 1 4 0 1636 20 medium out-of-frame . . . . ENSG00000125686.12 ENSG00000161405.17 ENST00000394287.7 . upstream upstream duplicates(1) ^(TTTGGGAAGTTCCGTTGGGGAAGATGGCGGCGGCCTCGAGCACCCTTCTCTTCTTGCCGCCGGGGACTTCAGATTGATCCTTCCCGGGAAGAGTAGGGACTGCTGGTGCCCTGCGTCCCGGGATCCCGAGCCAACTTGTTTCCTCCGTTAGTGGTGGGGAAGGGCTTATCCTTTTGTGGCGGATCTAGCTTCTCCTCGCCTTCAGGATGAAAGCTCAGGGGGAAACCGAGG___AGTCAGAAAAGCTGAGTAAGATGAGTTCTCTCCTGGAACGGCTCCATGCAAAATTTAACCAAAATAGACCCTGGAGTGAAACCATTAAGCTTGTGCGTCAAGTCATG___GAGAAGAGGGTTGTGATGAGTTCTGGAGGGCATCAACATTTGGTCAGCTGTTTGGAGACATTGCAGAAGGCTCTCAAAG___TAACATCTTTACCAGCAATGACTGATCGTTTGGAGTCCATAGCAAGACAGAATGG___ACTGGGCTCTCATCTCAGTGCCAGTGGCA)CTGAATGTTACATCACGTCAGATATGTTCTATGTGGAAGTGCAGTTAGATCCTGCAGGACAGCTTTGTGATGTAAAAGTGGCTCACCATGGGGAGAATCCTGTG___AGCTGTCCGGAGCTTGTACAGCAGCTAAG|CTTCTCAGATGAAGTAAGCTGGAGAGCAAGGAGCTGAAGGCAGTGTCTGGCCAACCTCCAGTGAAGAAACGAGGCCTTCAGTCTAACAGCCTTCAGGAACTGAATCCTGACAACAACCACATGAGTGAGCTTGGAAACTGATCCTTCCCTAGTCAAGTCTTTAGATGAGACCACAGTTCAG MKAQGETEESEKLSKMSSLLERLHAKFNQNRPWSETIKLVRQVMEKRVVMSSGGHQHLVSCLETLQKALKVTSLPAMTDRLESIARQNGLGSHLSASGTECYITSDMFYVEVQLDPAGQLCDVKVAHHGENPVSCPELVQQLs|fsdevswrars* 11BR060 ENSG00000108344.15 ENSG00000285897.1 +/+ -/+ chr17:39996338 chr17:58415751 CDS/splice-site 5'UTR deletion/5'-5' 1 4 0 3310 18 medium out-of-frame . PCI_domain(100%),Proteasome_regulatory_subunit_C-terminal(100%)| . . ENSG00000108344.15 ENSG00000285897.1 ENST00000264639.9 . downstream upstream . ^(AGAAGGCCCAGCGCCGGGAAGGGGTTTGCAGCTGCTCCGTCATCGTGCGGCCCGACGCTATCTCGCGCTCGTGTGCAGGCCCGGCTCGGCTCCTGGTCCCCGGTGCGAGGGTTAACGCGAGGCCCCGGCCTCGGTCCCCGGACTAGGCCGTGACCCCGGGTGCCATGAAGCAGGAGGGCTCGGCGCGGCGCCGCGGCGCGGACAAGGCGAAACCGCCGCCCGGCGGAGGAGAACAAGAACCCCCACCGCCGCCGGCCCCCCAGGATGTGGAGATGAAAGAGGAGGCAGCGACGGGTGGCGGGTCGACGGGGGAGGCAGACGGCAAGACGGCGGCGGCAGCGGCTGAGCACTCCCAGCGAGAGCTGGACACAGTCACCTTGGAGG___ACATCAAGGAGCACGTGAAACAGCTAGAGAAAGCGGTTTCAGGCAAGGAGCCGAGATTCGTGCTGCGGGCCCTGCGGATGCTGCCTTCCACATCACGCCGCCTCAACCACTATGTTCTGTATAAGGCTGTGCAGGGCTTCTTCACTTCAAATAATGCCACTCGAGACTTTTTGCTCCCCTTCCTGGAAGAG___CCCATGGACACAGAGGCTGATTTACAGTTCCGTCCCCGCACGGGAAAAGCTGCGTCGACACCCCTCCTGCCTGAAGTGGAAGCCTATCTCCAACTCCTCGTGGTCATCTTCATGATGAACAGCAAGCGCTACAAAGAG___GCACAGAAGATCTCTGATGATCTGATGCAGAAGATCAGTACTCAGAACCGCCGGGCCCTAGACCTTGTAGCCGCAAAGTGTTACTATTATCACGCCCGGGTCTATGAGTTCCTGGACAAGCTGGATGTGGTGCGCAG___CTTCTTGCATGCTCGGCTCCGGACAGCTACGCTTCGGCATGACGCAGACGGGCAGGCCACCCTGTTGAACCTCCTGCTGCGGAATTACCTACACTACAGCTTGTACGACCAGGCTGAGAAGCTGGTGTCCAAGTCTGTGTTCCCAGAGCAGGCCAACAACAATGAGTGGGCCAGGTACCTCTACTACACAG___GGCGAATCAAAGCCATCCAGCTGGAGTACTCAGAGGCCCGGAGAACGATGACCAACGCCCTTCGCAAGGCCCCTCAGCACACAGCTGTCGGCTTCAAACAGACG___GTGCACAAGCTTCTCATCGTGGTGGAGCTGTTGCTGGGGGAGATCCCTGACCGGCTGCAGTTCCGCCAGCCCTCCCTCAAGCGCTCACTCATGCCCTATTTCCTTCTGACTCAAG___CTGTCAGGACAGGAAACCTAGCCAAGTTCAACCAGGTCCTGGATCAGTTTGGGGAGAAGTTTCAAGCAGATGGGACCTACACCCTAATTATCCGGCTGCGGCACAACGTGATTAAGACAG___GTGTACGCATGATCAGCCTCTCCTATTCCCGAATCTCCTTGGCTGACATCGCCCAGAAGCTGCAGTTGGATAGCCCCGAAGATGCAGAGTTCATTGTTGCCAAG___GCCATCCGGGATGGTGTCATTGAGGCCAGCATCAACCACGAGAAGGGCTATGTCCAATCCAAGGAGATG)ATTGACATCTATTCCACCCGAGAGCCCCAGCTAGCCTTCCACCAGCGCATCTCCTTCTGCCTAGATATCCACAACATGTCTGTCAAG|GTAGCATTCCTGATTGGGCAGAGAAGAGGATATTTTCAGCCCACATCTGCTGCAG___ATCCTGCTCAAAAAAGGTTTCAACTGCTTAACCAAGTACAGCTCATTCTTCCACCTTCTTACTCTGCAACCAAACCAAGTGCCCCATACTACAG___CATATAAAATGATCAAGTCTTGAAAGAGAAAAGAAGCAAAGTAGCAAATACATCAACAATTC MKQEGSARRRGADKAKPPPGGGEQEPPPPPAPQDVEMKEEAATGGGSTGEADGKTAAAAAEHSQRELDTVTLEDIKEHVKQLEKAVSGKEPRFVLRALRMLPSTSRRLNHYVLYKAVQGFFTSNNATRDFLLPFLEEPMDTEADLQFRPRTGKAASTPLLPEVEAYLQLLVVIFMMNSKRYKEAQKISDDLMQKISTQNRRALDLVAAKCYYYHARVYEFLDKLDVVRSFLHARLRTATLRHDADGQATLLNLLLRNYLHYSLYDQAEKLVSKSVFPEQANNNEWARYLYYTGRIKAIQLEYSEARRTMTNALRKAPQHTAVGFKQTVHKLLIVVELLLGEIPDRLQFRQPSLKRSLMPYFLLTQAVRTGNLAKFNQVLDQFGEKFQADGTYTLIIRLRHNVIKTGVRMISLSYSRISLADIAQKLQLDSPEDAEFIVAKAIRDGVIEASINHEKGYVQSKEMIDIYSTREPQLAFHQRISFCLDIHNMSVK|vafligqrrgyfqptsaadpaqkrfqllnqvqlilppsysatkpsapyysi* 11BR060 ENSG00000108344.15 ENSG00000108375.12 +/+ -/+ chr17:39996338 chr17:58415751 CDS/splice-site 5'UTR deletion/5'-5' 1 4 0 3310 18 medium out-of-frame . PCI_domain(100%),Proteasome_regulatory_subunit_C-terminal(100%)| . . ENSG00000108344.15 ENSG00000108375.12 ENST00000264639.9 . downstream upstream . ^(AGAAGGCCCAGCGCCGGGAAGGGGTTTGCAGCTGCTCCGTCATCGTGCGGCCCGACGCTATCTCGCGCTCGTGTGCAGGCCCGGCTCGGCTCCTGGTCCCCGGTGCGAGGGTTAACGCGAGGCCCCGGCCTCGGTCCCCGGACTAGGCCGTGACCCCGGGTGCCATGAAGCAGGAGGGCTCGGCGCGGCGCCGCGGCGCGGACAAGGCGAAACCGCCGCCCGGCGGAGGAGAACAAGAACCCCCACCGCCGCCGGCCCCCCAGGATGTGGAGATGAAAGAGGAGGCAGCGACGGGTGGCGGGTCGACGGGGGAGGCAGACGGCAAGACGGCGGCGGCAGCGGCTGAGCACTCCCAGCGAGAGCTGGACACAGTCACCTTGGAGG___ACATCAAGGAGCACGTGAAACAGCTAGAGAAAGCGGTTTCAGGCAAGGAGCCGAGATTCGTGCTGCGGGCCCTGCGGATGCTGCCTTCCACATCACGCCGCCTCAACCACTATGTTCTGTATAAGGCTGTGCAGGGCTTCTTCACTTCAAATAATGCCACTCGAGACTTTTTGCTCCCCTTCCTGGAAGAG___CCCATGGACACAGAGGCTGATTTACAGTTCCGTCCCCGCACGGGAAAAGCTGCGTCGACACCCCTCCTGCCTGAAGTGGAAGCCTATCTCCAACTCCTCGTGGTCATCTTCATGATGAACAGCAAGCGCTACAAAGAG___GCACAGAAGATCTCTGATGATCTGATGCAGAAGATCAGTACTCAGAACCGCCGGGCCCTAGACCTTGTAGCCGCAAAGTGTTACTATTATCACGCCCGGGTCTATGAGTTCCTGGACAAGCTGGATGTGGTGCGCAG___CTTCTTGCATGCTCGGCTCCGGACAGCTACGCTTCGGCATGACGCAGACGGGCAGGCCACCCTGTTGAACCTCCTGCTGCGGAATTACCTACACTACAGCTTGTACGACCAGGCTGAGAAGCTGGTGTCCAAGTCTGTGTTCCCAGAGCAGGCCAACAACAATGAGTGGGCCAGGTACCTCTACTACACAG___GGCGAATCAAAGCCATCCAGCTGGAGTACTCAGAGGCCCGGAGAACGATGACCAACGCCCTTCGCAAGGCCCCTCAGCACACAGCTGTCGGCTTCAAACAGACG___GTGCACAAGCTTCTCATCGTGGTGGAGCTGTTGCTGGGGGAGATCCCTGACCGGCTGCAGTTCCGCCAGCCCTCCCTCAAGCGCTCACTCATGCCCTATTTCCTTCTGACTCAAG___CTGTCAGGACAGGAAACCTAGCCAAGTTCAACCAGGTCCTGGATCAGTTTGGGGAGAAGTTTCAAGCAGATGGGACCTACACCCTAATTATCCGGCTGCGGCACAACGTGATTAAGACAG___GTGTACGCATGATCAGCCTCTCCTATTCCCGAATCTCCTTGGCTGACATCGCCCAGAAGCTGCAGTTGGATAGCCCCGAAGATGCAGAGTTCATTGTTGCCAAG___GCCATCCGGGATGGTGTCATTGAGGCCAGCATCAACCACGAGAAGGGCTATGTCCAATCCAAGGAGATG)ATTGACATCTATTCCACCCGAGAGCCCCAGCTAGCCTTCCACCAGCGCATCTCCTTCTGCCTAGATATCCACAACATGTCTGTCAAG|GTAGCATTCCTGATTGGGCAGAGAAGAGGATATTTTCAGCCCACATCTGCTGCAG___ATCCTGCTCAAAAAAGGTTTCAACTGCTTAACCAAGTACAGCTCATTCTTCCACCTTCTTACTCTGCAACCAAACCAAGTGCCCCATACTACAG___CATATAAAATGATCAAGTCTTGAAAGAGAAAAGAAGCAAAGTAGCAAATACATCAACAATTC MKQEGSARRRGADKAKPPPGGGEQEPPPPPAPQDVEMKEEAATGGGSTGEADGKTAAAAAEHSQRELDTVTLEDIKEHVKQLEKAVSGKEPRFVLRALRMLPSTSRRLNHYVLYKAVQGFFTSNNATRDFLLPFLEEPMDTEADLQFRPRTGKAASTPLLPEVEAYLQLLVVIFMMNSKRYKEAQKISDDLMQKISTQNRRALDLVAAKCYYYHARVYEFLDKLDVVRSFLHARLRTATLRHDADGQATLLNLLLRNYLHYSLYDQAEKLVSKSVFPEQANNNEWARYLYYTGRIKAIQLEYSEARRTMTNALRKAPQHTAVGFKQTVHKLLIVVELLLGEIPDRLQFRQPSLKRSLMPYFLLTQAVRTGNLAKFNQVLDQFGEKFQADGTYTLIIRLRHNVIKTGVRMISLSYSRISLADIAQKLQLDSPEDAEFIVAKAIRDGVIEASINHEKGYVQSKEMIDIYSTREPQLAFHQRISFCLDIHNMSVK|vafligqrrgyfqptsaadpaqkrfqllnqvqlilppsysatkpsapyysi* 11BR060 ENSG00000128891.15 ENSG00000175344.18 -/- +/- chr15:40564791 chr15:32165246 5'UTR/splice-site intron deletion/5'-5' 0 4 0 17 6 medium . . . . . ENSG00000128891.15 ENSG00000175344.18 ENST00000561011.5 . upstream downstream . ^(ACTGGGCAGCTGTTACGGTAAGTGAGGAGGGGCTGGGGTGCCCAGCGTTTTGGATCTCCCACTCTGGCCCGGCCCCGGAATACCACATAGAGGCCTTGGGACCTGATTCATCCCGTCCA)GACAGCCCTAGAGACCTGAGCGACTGAGGCCTGGGATCTGGACGCCGGAATTTCCTGCGTGGTTCTGGACGCCCTGCCCTGGG|AAACAGGTAAATGTATTACCTGCTTCAAACTGATGGATGGACAGACAGAAAGAGCAGCAAACCAACAAGCCTCCAGCTCTCAGGCCTCTCACCTCTGGCCTTGCATTTTCTTAAGTGTGGGTCAGCGTTATAAGGAAATCAGACAAAAATAC . 11BR060 ENSG00000108219.15 ENSG00000108219.15 +/+ +/- chr10:80468687 chr10:80481295 5'UTR/splice-site intron inversion/3'-3' 1 3 0 26 20 medium . . . . . ENSG00000108219.15 ENSG00000108219.15 ENST00000372158.6 . downstream downstream . ^(GAACTTGCTCTAACTTCCTCGGCCGAGCCGGGCCGCGCCGCCGCTGCCGCCGCCGCGCGCGG___GACTTGGGGTGGA)GTCGAAAGCAGGGAGCCCTGTGAGTTG___ACCTGCTGATGGGCAGCATGAGCATCACCTGGGAGCTTGCTGCGCTGTAGAATCTTGAGGGGTCTCCATCCAGATCAGCTGAATCAGAGTTTGCATTGTTAACAAG|AAATCCTCCTGGGGCCTTCGGAGATCCTTCCATCTGGACCAGTGCACAGAATTCCCTTTACATCTTTTGGGATACACCCTAAAGAAGATCCAGTCTTTGTTCACCTTCACGAGTTTCTTCAATGTGAAAG___AGACAGGATCTTAAACTCCCAG . 11BR060 ENSG00000085733.16 ENSG00000072518.20 +/+ +/+ chr11:70425401 chr11:63895159 CDS/splice-site CDS/splice-site duplication 2 1 1 707 58 medium out-of-frame . Repeat_in_HS1/Cortactin(100%)|Kinase_associated_domain_1(100%),Protein_kinase_domain(100%),UBA/TS-N_domain(100%) . . ENSG00000085733.16 ENSG00000072518.20 ENST00000346329.7 ENST00000402010.6 downstream upstream mismatches(1) ^(GGCCGGGCTAGCGCTTAGCCAGCTGCGGGCGGACCCCCGGGACTCTTGCGGGCCAAGACGCGGGAGGAGGCGGGGCAGGGGGCGGGGTCGCGCGGGGACCCGGATGCGGCCCCGCCCCCGCCCTCGGAACCGGAAGTAGAGCCTGGTGCCTGGGAGCGGCTGGCGCGGCGGAATCCAGGGCCGACCCGGGCCGGACCGACCCCAGGCGGCG___ACGGAATCAGTCCCCAATGCCTGGAAATTCCTCATTGGATTACTGTGTTTTAAACAGAATTTCGTGAACAGCCTTTTATCTCCAAGCGGAAAGAAAG___ATGTGGAAAGCTTCAGCAGGCCACGCTGTGTCCATCGCCCAGGATGACGCGGGGGCCGATGACTGGGAGACCGACCCTGATTTTGTG___AATGATGTGAGTGAGAAGGAGCAAAGATGGGGTGCCAAGACGGTGCAGGGCTCCGGGCACCAGGAGCATATCAA___CATACACAAGCTGAGGGAGAATGTCTTTCAAGAGCATCAGACCCTTAAGGAGAAGGAACTTGAAACAGGACCAAAAGCTTCCCATGGCTATGGAGGGAAATTTGGTGTGGAACAAGACCGAATGGATAAG___TCAGCTGTCGGCCACGAATATCAGTCGAAACTTTCCAAGCACTGCTCGCAGGTGGACTCGGTCCGTGGCTTCGGAGGCAAGTTTGGTGTCCAGATGGACAGAGTTGATCAG___TCTGCTGTAGGCTTTGAATACCAGGGGAAGACTGAGAAGCATGCCTCCCAGAAAG___ACTACTCCAGTGGTTTTGGCGGCAAGTATGGCGTGCAGGCCGACCGAGTAGACAAGAGCGCGGTGGGCTTCGACTACCAGGGCAAGACGGAGAAGCACGAGTCACAGAGAG___ATTACTCCAAAGGTTTCGGCGGCAAATACGGTATCGACAAGGACAAAGTGGATAAGAGCGCCGTTGGCTTTGAGTATCAAGGCAAAACGGAGAAGCACGAGTCCCAGAAAG___ACTATGTGAAAGGGTTTGGAGGAAAATTTGGTGTGCAGACAGAC)AGACAAGACAAATGTGCCCTTGGCTGGGATCACCAGGAGAAATTGCAGCTGCATGAATCCCAAAAAG___ACTACTCCAAAGGATTCGGCGGGAAGTATGGGGTGCAGAAGGATCGGATGGATAAG___AATGCGTCAACCTTTGAGGATGTCACCCAGGTGTCCTCTGCCTACCAGAAGACAGTACCTGTCGAAGCTG|CCCACCTTGGGACACCTTGACTCCAAGCCCAGCAGTAAGTCCAACATGATTCGGGGCCGCAACTCAGCCACCTCTGCTGATGAGCAGCCCCACATTGGAAACTACCGGCTCCTCAAGACCATTGGCAAGGGTAATTTTGCCAAGGTGAAGTTGGCC(CGACACATCCTGACTGGGAAAGAG___GTAGCTGTGAAGATCATTGACAAGACTCAACTGAACTCCTCCAGCCTCCAGAAA___CTATTCCGCGAAGTAAGAATAATGAAGGTTTTGAATCATCCCAACATAG___TTAAATTATTTGAAGTGATTGAGACTGAGAAAACGCTCTACCTTGTCATGGAGTACGCTAGTGGCG___GAGAGGTATTTGATTACCTAGTGGCTCATGGCAGGATGAAAGAAAAAGAGGCTCGAGCCAAATTCCGCCAG___ATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAG___GCAGAAAACCTGCTCTTGGATGCTGATATGAACATCAAGATTGCAGACTTTGGCTTCAGCAATGAATTCACCTTTGGGAACAAGCTGGACACCTTCTGTGGCAGTCCCCCTTATGCTGCCCCAGAACTCTTCCAGGGCAAAAAATATGATGGACCCGAGGTGGATGTGTGGAGCCTAGGAGTTATCCTCTATACACTGGTCAGCGGATCCCTGCCTTTTGATGGACAGAACCTCAAG___GAGCTGCGGGAACGGGTACTGAGGGGAAAATACCGTATTCCATTCTACATGTCCACGGACTGTGAAAACCTGCTTAAGAAATTTCTCATTCTTAATCCCAGCAAGAGAGGCACTTTAGAG___CAAATCATGAAAGATCGATGGATGAATGTGGGTCACGAAGATGATGAACTAAAGCCTTACGTGGAGCCACTCCCTGACTACAAGGACCCCCGGCGGACAG___AGCTGATGGTGTCCATGGGTTATACACGGGAAGAGATCCAGGACTCGCTGGTGGGCCAGAGATACAACGAGGTGATGGCCACCTATCTGCTCCTGGGCTACAAGAGCTCCGAG___CTGGAAGGCGACACCATCACCCTGAAACCCCGGCCTTCAGCTGATCTGACCAATAGCAGCGCCCCATCCCCATCCCACAAGGTACAGCGCAGCGTGTCGGCCAATCCCAAGCAGCGGCGCTTCAGCGACCAGG___CAGCTGGTCCTGCCATTCCCACCTCTAATTCTTACTCTAAGAAGACTCAGAGTAACAACGCAGAAAATAAGCGGCCTGAGGAGGACCGGGAGTCAGGGCGGAAAGCCAGCAGCACAGCCAAGGTGCCTGCCAGCCCCCTGCCCGGTCTGGAGAGGAAGAAGACCACCCCAACCCCCTCCACG___AACAGCGTCCTCTCCACCAGCACAAATCGAAGCAGGAATTCCCCACTTTTGGAGCGGGCCAGCCTCGGCCAGGCCTCCATCCAGAATGGCAAAGACAG___CCTAACCATGCCAGGGTCCCGGGCCTCCACGGCTTCTGCTTCTGCCGCAGTCTCTGCGGCCCGGCCCCGCCAGCACCAGAAATCCATGTCGGCCTCCGTGCACCCCAACAAGGCCTCTGGGCTGCCCCCCACGGAGAGTAACTGTGAGGTGCCGCGGCCCAG___CACAGCCCCCCAGCGTGTCCCTGTTGCCTCCCCATCCGCCCACAACATCAGCAGCAGTGGTGGAGCCCCAGACCGAACTAACTTCCCCCGGGGTGTGTCCAGCCGAAGCACCTTCCATGCTGGGCAGCTCCGACAGGTGCGGGACCAGCAGAATTTGCCCTACGGTGTGACCCCAGCCTCTCCCTCTGGCCACAGCCAGGGCCGGCGGGGGGCCTCTGGGAGCATCTTCAGCAAGTTCACCTCCAAGTTTGTACGCAG___AAATCTGTCTTTCAGGTTTGCCAGAAG___GAACCTGAATGAACCTGAAAGCAAAGACCGAGTGGAGACGCTCAG___ACCTCACGTGGTGGGCAGTGGCGGCAACGACAAAGAAAAGGAAGAATTTCGGGAGGCCAAGCCCCGCTCCCTCCGCTTCACGTGGAGTATGAAGACCACGAGCTCCATGGAGCCCAACGAGATGATGCGGGAGATCCGCAAGGTGCTGGACGCGAACAGCTGCCAGAGCGAGCTGCATGAGAAGTACATGCTGCTGTGCATGCACGGCACGCCGGGCCACGAGGACTTCGTGCAGTGGGAGATGGAGGTGTGCAAACTGCCGCGGCTCTCTCTCAACGGGGTTCGATTTAAGCGGATATCGGGCACCTCCATGGCCTTCAAAAACATTGCCTCCAAAATAGCCAACGAGCTGAAGCTTTAACAGGCTGCCAGGAGCGGGGGCGGCGGGGGCGGGCCAGCTGGACGGGCTGCCGGCCGCTGCGCCGCCCCACCTGGGCGAGACTGCAGCGATGGATTGGTGTGTCTCCCCTGCTGGCACTTCTCCCCTCCCTGGCCCTTCTCAGTTTTCTCTTACATGTTTGTGGGGGGTGGGAGATTGTTCTCCAGCACCCCACATTCACCCCTGCCCAGAGATTCCCCCTTCTCCTCTCCCCTACTGGAGGCAAAGGAAGGGGAGGGTGGATGGGGGGGCAGGGCTCCCCCTCGGTACTGCGGTTGCACAGAGTATTTCGCCTAAACCAAGAAATTTTTTATTACCAAAAAGAAAAAAGAAAAAAAAAATCCCAGCGGCCACCTTTCCTCCCTGCCCCATTGGGACAGTCGAGACTGGATCTGTGGGGTTTCCCGGGAGGGTGGCTCAGGGCTGGAACACTCTCAGGCAAGAGTGGTGGAGCTCCCGTCAGGCCCTCCGCCAGGCCCACTGTGGGCTTCTCCCCTCTCCTCCCTCCTTCCCCTCCAAGCAAACCACCAGAGGTGGCCTTCCCCTGACCTCAGGCCCCTGGGCTGGAGGCCTGGGCGGTGGGGCAGGGGGCGGGGGTGCTGCGCAGCCCTGCAGTGGGTGGGGCTGGGGGCTGCTCCGGGGCTGCTGAGGCTGGAGGGCCGGCACAAGGCTCCGCCTCCCTCCACACTGTACCCTCTGCCCCTCCTCCCCAGAGCTGGGCATTTCCTTCCACAAGCTGCTGTGGGGACGTGTGTTCCCTCAAAGTCTGTGCCATCTTCTCCCACCCCTCCCGGGTAGAAGGAGGGGCTGACCCCAGGGCTGGGAGAGGGGAGGGGACTGGAGGGCAGACTGGCTTCTCGGTCCCCAGGGGGCCGCTTGGGCTGTTGGTCTCCAGAGCAGGGCCACTGGGCACTCTGTGATGGGGGAGCCTTTGTCTGAAAGCACAGCCCCCTCGCCCTTCCTCTCCCCATGGCTTCCCCTTCATTGGCATTAATCTGGGCACCAGCTCTCTCCATAGCAGTGACTTCCCTCACCACTCTCATCTCTCAGCCTTGCCTTTTCTTCCTGACACTGTCGCCCCCTCCTCTCAGGAGACACTGCCGAGGGCCACCTGGCAGAAGGCTGAGTTAGGCAGCAGGGCCGGGAGCGTCTGCCCTCCACAGGGTGGGGGACAGATAGGCTAAGCGACTCCCAGCTTGCTACCCTCAGTGGCCAGTGTGGGCGTGGGCGGTTTGGGGCGCTTGGCTGGTGGTGGCCACTGCATCCCTTAATTTATTTCTCTGCTGTTTCTGTTCTTGAGAAATTGGGGGTGGGAGTCCTACACAGAGGCTGCCCCTACCCTCACCTGAGTTGTACATTTTTTTGTGATGGGTTTTATTTTTTATTATTTTATTTTATTTTTTTTTTTTTTGATTTATGATGACTCCACCCCTCTTCATCACCCCCGCTCCCAGGCCAGGCTCAGCGATTAAGCCGAGCCCTTGCGTCCTAGGAAGGGGCCTTGCCAACCTCAGCCCTCCTGCCCCACACTCCTACTGCGGCTCAGACCAAGGGCTCCCCCTCCCTCCCTTCCCCCCTCCTGCCCTATGGAACAGCCCGGGTGCTCTGAGGGGGCTGGGAGGGCATGGCTTGGCTCCCAAAGGGGGTAGGGGCCCGGGGCACCCAGGCAAGGTGGCCCCTCCCCGTCTAGCCCCCTCCTCCCCAACCCTGCACTTAGTTTCTCCTCTGGATCAAACACGTAATAAAGAGAATGTTTGGAATCTG)$ MWKASAGHAVSIAQDDAGADDWETDPDFVNDVSEKEQRWGAKTVQGSGHQEHINIHKLRENVFQEHQTLKEKELETGPKASHGYGGKFGVEQDRMDKSAVGHEYQSKLSKHCSQVDSVRGFGGKFGVQMDRVDQSAVGFEYQGKTEKHASQKDYSSGFGGKYGVQADRVDKSAVGFDYQGKTEKHESQRDYSKGFGGKYGIDKDKVDKSAVGFEYQGKTEKHESQKDYVKGFGGKFGVQTDRQDKCALGWDHQEKLQLHESQKDYSKGFGGKYGVQKDRMDKNASTFEDVTQVSSAYQKTVPVEA|ahlgtp* 11BR060 ENSG00000198046.12 ENSG00000265542.5 -/- -/- chr19:56460689 chr17:57772196 CDS/splice-site exon/splice-site translocation 4 0 0 10 3 medium out-of-frame . KRAB_box(100%)| . . ENSG00000198046.12 ENSG00000265542.5 ENST00000292069.10 ENST00000581805.5 upstream downstream . ^(GCAGCGCGCGGTCCCGGGGTCCCGGAGGGGAGTGCGCAGGCGCTGAGTCCCTGCTCGGCTGTCTCGGTGGTCGCCGCCGGGGTCTGAGCCCGGGAAGACCGAG___CCCTGCCTTACCAGCTCTCTGCCCATCTCTCAGTGTGGACCCTAAAGGGGGAGGAAAGGATGCCTTCTGCACGGGGGAAATCCAAATCCAAG___GCACCTATAACATTTGGGGACTTAGCCATCTACTTCT)CCCAGGAGGAGTGGGAATGGCTGAGCCCCATTCAGAAGGATTTGTATGAAGATGTCATGTTGGAGAATTACCGGAACCTGGTCTCGCTTG|GAACATTGCCCTGAGACAGACATCCATGAAGAAGCCTGGGATGAAAGACCACATGGAGAGAAAGGCCCACCATCATTCTGCACCAACTACCAAC(GGCGTAAGGGAGGTTGACTTGGATCTCCCACCCCAGTTGACTCTCCAGCTGAAAGCAACTGCCTGAGCCCAAACAAAACCTGCTGAGGAACCTCCCTGCTAGCAAATGGAATCAGGAGAAATAATAAATAGTTCTGTTGTTTTAAGTCACCAACTCA)$ MPSARGKSKSKAPITFGDLAIYFSQEEWEWLSPIQKDLYEDVMLENYRNLVSL|gtlp* 11BR060 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 2 2 0 23 3 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCC)AACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTGGCCACATTGAGGAATCGTGTAAAATGAAT___CCATTTCGTAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnpsghieesckmnpfr 11BR060 ENSG00000269397.1 ENSG00000204256.13(21225),ENSG00000204252.14(1452) +/+ ./+ chr19:23928932 chr6:33002730 exon intergenic translocation 0 2 1 1 4 medium . . . . . ENSG00000269397.1 . ENST00000594230.1 . downstream upstream . ^(CTTAAATTTGATAAAACTTAGTATGTGTCCTAACAGAATACACCAGCTGCAAATAAGAATATTGTGTATTTTCTTGCTTTTGACTGGAAAGTTCTGTACTCATCTGTTAAACCTAGTTGGTCTATAATATGGTTTTGATGTTCATGTCCTCCAAACCTTATGATTAAATGCAATTTTTAATGTTGGATGTGAGACCTGGTGGGAGGTGTTTGGGTCATGGGGGCAAAGTCCTCATAGATAGCTTGGCACCATCCTCTCAGTAATGAAAATGTTTATACTCCATTAATTCAAATGAAAGCAGGTTTATTAGAAGAACCTGGCTCCTTCGCCTCATACTTGCTCTGTCTCTCATCATGTAATATGTGCAGTTACTCTTCGCCTTCAATCATGACTGTAAGCTTGGTGACACTCTCACCAGAAGCAGATGCTGGCACACTTTCTACAGTCTGCTAAATTGTGAGCCAAATAAATATTATTTCTTTATAAGTTATCCACTCTCCAGTATTCACCTATATGCAAAATAATTGATACAGTCTATAATGTTGTCTAGGTTTTCTGTTTTCTTATTTTTTGTTTAATGTGAATTTTCTATTACGGAAAATGGGGTCTTGATGTCTACAATTATTATGTTGCTATGTATTTCTTGCTTTACTTTTGTCAATATTTACTTTATATATTTTGGAGCCCTGATATTGTACATACACATACAGATAGATAGAGAGATAGATAGATAGATAGATATAGTAGTTATACATTTGTGGTAATATCAACCCATTTTACCAATATATACTACCAATGTTTGTCTCACGTTAGCACTTGACTTAAAATATATTATGTCTAAAACCCAAGTGTAGTTACTATTTTCATAAAATACAGGTTTTTGCACTATGTAATTTTCAGCCTATTTGACTCAGTGCTAAAATGAGTCCCTTGTAGGTGGCATATGGTTTGCTTTTTCTTAAGCCACTAAAGCATTTTATTTTTTCTTTTTATAATTTCATTTATTTACTTGTTTATTCATTTATTTTTGAGATAGGTCTCACTCTGTCAACCAGGCTGGTTT)GCAGTGTTGTGATCATGGCTCACAGCAGCCTCAGTTTCTCAAACTCAGAAGATTCTCTCATTTCAGCCTCTCAGGTAGCTGG|GGAAGGGAAAAAGCAGATATCCTATAAGCTTCTGAGAGAAAAAAACAACAACGATTACGTACAAAGTTTCATGACACAATATCTTTTGGATTATCAACAATAACGCAGGAAGCTAAGGGATTATAGAGAAATGCCTTAAAAATTCTGATGGAAATGATTTCCAATCTTGAATTTTATAACCGTGG . 11BR060 ENSG00000122042.10 ENSG00000136169.16 -/- +/- chr13:29766006 chr13:49465317 3'UTR intron duplication/5'-5' 1 2 0 45 3 medium stop-codon . Ubiquitin-2_like_Rad60_SUMO-like(100%)| . . ENSG00000122042.10 ENSG00000136169.16 ENST00000380680.5 . upstream downstream . ^(AGTCGCACTCAGGCAGCCGCCGCCGCCGCCGCTGCCGCCATGTTGGTTTGAGAGGCGATGACAGGAGGCGGCCGCGGCGTGTGGGACTGAAAAGTGAAGGAGGAGGAGGAGAAACAAAGCTCTGAGAGGAAACCATTCCCGGGCTGAGGAGAAGGAGGACCCGGCCTCTTCCGGGGACCAGCCGAAGTCGGCGTCGCCCGGAGCTCGCGAGGCCGGGGAGGGGAGGGGAAGGGAAGGCGGAGACCGGGGAGGCGGCGGCGGGGAAGGCGGAGGCAGAAGAGGAGTGGCGAGGAGCCGGAGACGATGCGCCCCGACCCCAGCTGCTGTCCGGAGGCGCCCGCGGCCTGAGCCCAGAGGGGCTGTGGAGTGTCCCGGCCGGCCCCGAGCACCCCCGCGCTGTCGGTCCCCCGCTCCGGTCTTTCGCTTTGGCTTCCAACTAGTTAAATGCCCTTGAGCGCGGGTTTCCGCGGCCCGGCTCTTCGCCCCCGCGGCGCGAGTTGAGCCGTTTCCCCGCGCTGTCCGCGCGGGCGCTCCGACAGCGGCTCTGCAGGGTCCGCGGCCAGCGTCCGGCCACCGCTCGGCCGCCACTCAAGGCTCACGCGTCGATGTGTAGCTACATAGTTATCTGTGTACATCCACGCTGGGGCATTTTTCTCCTGCTTAATGAGGACTTGACTCGGGAGCAAGTGTGAATCATTGCCGGGGCTGGGAAAGGAGGAAGGCGCATTTAACCCCCTCCCACCCCTCTCCATGTCCGTGTGTCACTCGGCTCGGTCCACCTGGCGCGGCCGGTCCTGGGGCTGCTGCTGCTGTTGACGACGACGACGACGACGGGGGCTGCCTCTGCTGTCCCGGGAGTTTCCTCCTGCTCCGGCCACACAGCTCCTGGGGATTGTTCCTCTTCGAACCAGAACCTCGGCCTGACCGGCACTTTGGCTCCAAAATAACTTTATTTTTGGGGGAGAAAGCACATCACGAACCAGTCAAAATCGTGGTTTATTTCTGTAACGTGAAGACTTCTGCTCTTTTTTCTTTGTTTGTTTTTTTCGTAAACATCTGGGTGTATATCAAACGGCAAGATGTCCAGTAATGTCCCGGCGGATATG___ATAAATTTGCGCCTCATTTTGGTAAGCGGAAAAACAAAAGAGTTCCTGTTTTCTCCTAACGATTCTGCTTCTGACATTGCAAAGCATGTATATGACAATTGGCCAATGG___ACTGGGAAGAAGAGCAGGTCAGCAGTCCAAATATTCTACGACTTATTTATCAAGGACGATTTCTACATGGAAATGTCACATTAGGAG___CATTAAAACTTCCTTTTGGCAAAACAACAGTGATGCATTTGGTGGCCAGAGAGACATTACCAGAGCCAAACTCTCAAG___GTCAGAGGAATCGTGAGAAGACTGGAGAGAGTAATTGTTGTGTAATCCTGTAAACACTGTCTGCCTAGTGTGATGTGATATAGTCTTTGTCTTTCATGCTGCTGGGACAGAAAAGACCCGACATTGCTTCAGAAACCGTTCAGAACAGTCTGCCTGTAAACACATGGAACTGAATTACCACATGAACACTGTCATCTTTTCTCATGAAAGTAAAAAGAACCAAGAACATTTTTCACTCTGATTTTTTATTTCTTGTATTTTTTGTTGAGCTGTTTTAACACATATTGGTTTTTGAATGCAGTCAATCTCCAGGGGAAAAGTTAACAAGTTATCTTTCGTAGCAGAAACCATTTTGCTGCCACAAAATTTTCATCATCAGAACTAATAAATCAAGTGTTCCAAATACAATTTGCATTAAAAAGATTGGCATTATTTTCCTCATCAGCAGAATTTATAACAGTGTGTGGTATCTAGAAATACTTATATATACAATTCCACACTGGAAGACACTCAGCAATTAATGAAGTTAATTACTGGGCCAACTTGAGAGGAAAAAATGGAAAAGAAACTAAAATGTTGGGTGAATTCTACCAAAGTCAGCCGTGGTGGCTGCACTGGCACAGAATACTAAACTGAGTGTGACTATTTTCACTGCAACAAATGAAAAAACAAAATGTGCCTGTTTAAAGCACTCAGTAGAGGGCTGATGAAACTAATTTTTTTTCCTTTAAGACATGCACTCTTGAGTCCTACAGTAACTGAGTGTTTGTTTAGACAGCACAAGAAGGGGTGAGAGTGCGTCTCCTAGCCTTAATGTGGGAGGGTAGTTTCAGTCACTCATCGGCTTTCATTATTGTGCAGAAATATTAGAAAACCTCATTGATCAATTTTATGTATTTGAATATCAGCAAATTGAAATTTTCCATAATTATCATTAATTTGTAACCACATCCAGTGTCATGCTTACTCCTTAGAGTTCAGATGAATTCTTAAAATTAAAAAAAAACTCCATAGTACTAATTTTGTTTCTTTATATAGTTTGCGTTTGATATTAGTGCTTGCAATTGTATTAAAGTCAAAAGCTGATTTTTATGGCATACACAAGAATGCCACTTTTTCTTTTATTTCATACCAATAATTTAAAGATTGATATGCTAAAAACAATTTGCACAGCACTAAA)GCATGAGCTACTTTCATCTAAACCTGTAAAAATATGAAAGATTTTTATATTTTTTCACTGGGAAGAAATTCTTCCTGGATGAAATTACAAATATGTGTAGAATATATTTAATAAAAGACTTA|AGAGGAAAGGGAAATAATTTCTCTCAAGAAAACACTATCCAGTCCTTCATATGGAGACAGAGCAAATACTGAGAGTTACACAACATCAAGAAAAATAAACATAATTAGCGGTTTGATGACAGCCTGGGGAGTCTAGGTTGGATCCAGGACAGCTTGTTTTGACCTCAAC . 11BR060 ENSG00000122042.10 ENSG00000136169.16 -/- +/+ chr13:29767099 chr13:49467864 3'UTR CDS/splice-site inversion 2 0 0 210 36 medium stop-codon . Ubiquitin-2_like_Rad60_SUMO-like(100%)|Methyl-CpG_binding_domain(100%),Pre-SET_motif(100%),SET_domain(100%) . . ENSG00000122042.10 ENSG00000136169.16 ENST00000380680.5 ENST00000354234.8 upstream upstream . ^(AGTCGCACTCAGGCAGCCGCCGCCGCCGCCGCTGCCGCCATGTTGGTTTGAGAGGCGATGACAGGAGGCGGCCGCGGCGTGTGGGACTGAAAAGTGAAGGAGGAGGAGGAGAAACAAAGCTCTGAGAGGAAACCATTCCCGGGCTGAGGAGAAGGAGGACCCGGCCTCTTCCGGGGACCAGCCGAAGTCGGCGTCGCCCGGAGCTCGCGAGGCCGGGGAGGGGAGGGGAAGGGAAGGCGGAGACCGGGGAGGCGGCGGCGGGGAAGGCGGAGGCAGAAGAGGAGTGGCGAGGAGCCGGAGACGATGCGCCCCGACCCCAGCTGCTGTCCGGAGGCGCCCGCGGCCTGAGCCCAGAGGGGCTGTGGAGTGTCCCGGCCGGCCCCGAGCACCCCCGCGCTGTCGGTCCCCCGCTCCGGTCTTTCGCTTTGGCTTCCAACTAGTTAAATGCCCTTGAGCGCGGGTTTCCGCGGCCCGGCTCTTCGCCCCCGCGGCGCGAGTTGAGCCGTTTCCCCGCGCTGTCCGCGCGGGCGCTCCGACAGCGGCTCTGCAGGGTCCGCGGCCAGCGTCCGGCCACCGCTCGGCCGCCACTCAAGGCTCACGCGTCGATGTGTAGCTACATAGTTATCTGTGTACATCCACGCTGGGGCATTTTTCTCCTGCTTAATGAGGACTTGACTCGGGAGCAAGTGTGAATCATTGCCGGGGCTGGGAAAGGAGGAAGGCGCATTTAACCCCCTCCCACCCCTCTCCATGTCCGTGTGTCACTCGGCTCGGTCCACCTGGCGCGGCCGGTCCTGGGGCTGCTGCTGCTGTTGACGACGACGACGACGACGGGGGCTGCCTCTGCTGTCCCGGGAGTTTCCTCCTGCTCCGGCCACACAGCTCCTGGGGATTGTTCCTCTTCGAACCAGAACCTCGGCCTGACCGGCACTTTGGCTCCAAAATAACTTTATTTTTGGGGGAGAAAGCACATCACGAACCAGTCAAAATCGTGGTTTATTTCTGTAACGTGAAGACTTCTGCTCTTTTTTCTTTGTTTGTTTTTTTCGTAAACATCTGGGTGTATATCAAACGGCAAGATGTCCAGTAATGTCCCGGCGGATATG___ATAAATTTGCGCCTCATTTTGGTAAGCGGAAAAACAAAAGAGTTCCTGTTTTCTCCTAACGATTCTGCTTCTGACATTGCAAAGCATGTATATGACAATTGGCCAATGG___ACTGGGAAGAAGAGCAGGTCAGCAGTCCAAATATTCTACGACTTATTTATCAAGGACGATTTCTACATGGAAATGTCACATTAGGAG___CATTAAAACTTCCTTTTGGCAAAACAACAGTGATGCATTTGGTGGCCAGAGAGACATTACCAGAGCCAAACTCTCAAG___GTCAGAGGAAT)CGTGAGAAGACTGGAGAGAGTAATTGTTGTGTAATCCTGTAAACACTGTCTGCCTAGTGTGATGTGATATAGTCTTTGTCTTTCATGCTGCTGGGACAGAAAAGACCCGACATTGCTTCAGAAACCGTTCAGAACAGTCTGCCTGTAAACACATGGAACTGAATTACCACATGAACACTGTCATCTTTTCTCATGAAA|ATCCTATGCCTGTGACTCAGAAGGAACAGGAAAACAAATCCAATGCATTTCCCTCTACATCATGTGAAAACTCCTTTCCAGAAGACTGTACATTTCT___AACAACAGgAAAT(AAGGAAATTCTCTCTCTTGAAGATAAAGTTGTAGACTTTAGAGAAAAAGACTCATCTTCGAATTTATCTTACCAAAGTCATGACTGCTCTGGTGCTTGTCTGATGAAAATGCCACTGAACTTGAAGGGAGAAAACCCTCTGCAGCTGCCAATCAAATGTCACTTCCAAAGACGACATGCAAAGACAAACTCTCATTCTTCAGCACTCCACGTGAGTTATAAAACCCCTTGTGGAAGGAGTCTACGAAACGTGGAGGAAGTTTTTCGTTACCTGCTTGAGACAGAGTGTAACTTTTTATTTACAGATAACTTTTCTTTCAATACCTATGTTCAGTTGGCTCGGAATTACCCAAAGCAAAAAGAAGTTGTTTCTGATGTGGATATTAGCAATGGAGTGGAATCAGTGCCCATTTCTTTCTGTAATGAAATTGACAGTAGAAAGCTCCCACAGTTTAAGTACAGAAAGACTGTGTGGCCTCGAGCATATAATCTAACCAACTTTTCCAGCATGTTTACTGATTCCTGTGACTGCTCTGAGGGCTGCATAGACAT___AACAAAATGTGCATGTCTTCAACTGACAGCAAGGAATGCCAAAACTTCCCCCTTGTCAAGTGACAAAATAACCACTGGATATAAATATAAAAGACTACAGAGACAGATTCCTACTGG___CATTTATGAATGCAGCCTTTTGTGCAAATGTAATCGACAATTGTGTCAAAACCGAGTTGTCCAACATGGTCCTCAAGTGAGGTTACAGGTGTTCAAAACTGAGCAGAAGGGATGGGGTGTACGCTGTCTAGATGACATTGACAGAGGGACATTTGTTTGCATTTATTCAG___GAAGATTACTAAGCAGAGCTAACACTGAAAAATCTTATGGTATTGATGAAAACGGGAGAGATGAGAATACTATGAAAAATATATTTTCAAAAAAGAGGAAATTAGAAGTTGCATGTTCAGATTGTGAAGTTGAAGTTCTCCCATTAGGATTGGAAACACATCCTAGAACTGCTAAAACTGAGAAATGTCCACCAAAGTTCAGTAATAATCCCAAGGAGCTTACTGT___GGAAACGAAATATGATAATATTTCAAGAATTCAATATCATTCAGTTATTAGAGATCCTGAATCCAAGACAGCCATTTTTCAACACAATGGGAAAAAAATG___GAATTTGTTTCCTCGGAGTCTGTCACTCCAGAAGATAATGATGGATTTAAACCACCCCGAGAGCATCTGAACTCTAAAACCAAGGGAGCACAAA___AGGACTCAAGTTCAAACCATGTTGATGAGTTTGAAGATAATCTGCTGATTGAATCAGATGTGATAGATATAACTAAATATAGAGAAGAAACTCCACCAAGGAGCAGATGTAACCAGGCGACCACATTGGATAATCAGAATATTAAAAAGGCAATTGAGGTTCAAATTCAGAAACCCCAAGAGGGACGATCTACAGCATGTCAAAGACAGCAGGTATTTTGTGATGAAGAGTTGCTAAGTGAAACCAAGAATACTTCATCTGATTCTCTAACAAAGTTCAATAAAGGGAATGTGTTTTTATTGGATGCCACAAAAGAAGGAAATGTCGGCCGCTTCCTTAAT___CATAGTTGTTGCCCAAATCTCTTGGTACAGAATGTTTTTGTAGAAACACACAACAGGAATTTTCCATTGGTGGCATTCTTCACCAACAG___GTATGTGAAAGCAAGAACAGAGCTAACATGGGATTATGGCTATGAAGCTGGGACTGTGCCTGAGAAGGAAATCTTCTGCCAATGTGGGGTTAATAAATGTAGAAAAAAAATATTATAAATATGTAACTAACGCCTGTTTGTGAAATTAGCTTATCAGGCTGAAATTAAAGCCATGCAAAAGAAGGTCTAGGTCCATCAAGGAAATTCCCCTCCGTTTTCCTTTGTCATGGGGTTTATGTTTTATTTCAGATTTTATTTGTGTGACTTAGAAATTCCAGGAACACAATTAGGATATTTTCATACACATAGGGTATCTTGTTCACTGCTGTGCTACTTTACATGAGTAGGATGGAAGTGTATATTTTATATGAAATACCACTGTACAATTTATAATTTATTTACAAATTATATATTAAGAGAAACAAATGTCATAACAGAACTCAGCTGTTTCTAATTGCTTTTGTGACTGTTACCTTTTAGTTCATGCCCCCCCAAAGAGCTAAATTTCACATTTTTACCTACAAAATTGATTTTTAATTCCTGGCAAATAATTTACCATTATGAGCTACAAGGTGGGCAACAGCGCCTGAGGATCTAATTTTATGCATATTACTCCCAAGTATTTTAACACTTGTTGGAGAAGCAATATCTGGATCGATAAAACACTGTCCCATCAACCATTTGAGTGGGGAGAGGGAGAAGCTCTTCTGTAAGTAAGATTCTGGCAAGCTCTTTGAAATGAGTCTTCTTTCCCACAGATTTTCTCTACTCTTTCTATACAAACAGATAGGAGAAGAGGGAATAGAAACCTGGAGGAACTTGAATATTTTTGTTCTAGATAGAGATACAGTTACTGAAAAGGAAACCTAGAAAGTAGTCACACGTTGCTTATTTAGGCCAGAAGTAATTGTACTGGGCAAAAATTTCACTTAAAAAACACAAGAAGTCCAGGTATGGTGGCTCAGACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGTGGATTACTTGAGCCTAGGGGTTCAAGACCAGCTTGGGCAACATGTCAAAACCCTGTCTCTACAAAAAATACAAAAATTAGCCTGGCATGATGGCATGTGCCCGTAGTCTCAGCTACTCAGGAGTGAGGTGGGAGGATCATTTGAGCTCAGAAGGTCAAGGCTGCAATGAGACATAATTTCACCATAGTACTTCCAGCCTGGGCAATAGAGCAAGACTCTCTCTCAAAAAAAACAGCACACACACACACACACGAAAACAATTCTGAACTATGAAATCTGAAACAGCCCCTTGGTATCTCCTGGGCATGATTTGCAAATCTTTTTTTTTTACAGAAAAAAGGCAAAGAGTAAGCACTTTGCCATAGGTTACTTGGCCGTGATCATCTATCTAGTGGAAAAGGGGACTGGGAAGCCCAAGCAGACTGGGAAACCAGACAGCTAGGAAAAGGAGCAAAACATAGCCCAGCAACCTACAGATGAAGAAAGTTGAGAAATCCATTTATTCACCATAGAGACGCAGGAATTTCAGGCAATGCACTAAAATGAAATGGGGGAAAAAAGCTTGATCAGTATGGGAACCATTTTTGTGCAAAAGGGAATATTATGGATCAGCCAGTATTTCTTTGAGCTCTGCCTGTGGAGTCCATTTGACCTTTAGAAATATGAGGTATTCTGTCAGTTTTATCTTCTTGGAGAAATTTCTCCTAAAATCTTGATTTGCTTTAGTCTGGACTGGTTCATAGCCATCATCTTCCATCAGTACCCCAGAGATTCACTTTGTCTCTTATGTGGGATCTGTTTCCAGTTAGATGCCATTATTTTCCTTTTCCTTGGTTTACTCTTCCACATATTGGTAAAGCTCTTCCAATAGCTTTTGGAAAGGAAAAATGAAAAGTAAATGTTTTGAATCTCTGTGTGTTTGACAATGTCTTTATTTTACCCTTATACCTGATTGCTGTTTTGGTTGGCAAGGTATAGGATTCTTTAGTGGTCTCCATGCCCAGTTTTGAAGACATCTGCTAGCTTTCAGTGCTGTTGCTGTGGAGTCTGAAAATCTGTCTTCTGGCTTCCAGGGTGACTACTGGAAATTGAATGCCATTCTGTTCCTTCTCTTTTGCATATATAATCCATTTTTATCTCTCTTGAAGCTTATAGGTTTATCTTTGTCTCAATGTTCTGTCCCTGTTAAGAGTCCATTTTCATCCTTTGTACTAGGTGCCTGGTGGGATCATTCCGTCTGAAACTAATGATTTCCCATCTCTTCACTGTTTCTGGAATTCCTGTTTTCCAGATGTTAGACCTCCAGAATTTGATCTCTAATTTTCCTATCTTTTCTCTTAACTTTCAGCTCTGTCTTCTTGCTAGGACCTTTTCCTAGGAGCATTTCTCAATTTAATCTTCCAGTTCATCTGTTGCATTTTATTTTTCTAGTCTCATATTGTCTCATATTTTTAATTTCTAAGAGCTCCCCTTCTCCGAATATTCTTTTTTTTTAATAGCATCCTATTTTGGCTCATGGTTGCAGTATTTTATCTCCTTGAAGATGTTTGTGTGTTTATGTATGTATATGCACACACGTATACATACACATACAGGCATGCATCTCTGTATTCTTTCGGCATAATCTGTGTCCTCCAGGGTTTGTTTCTTTGTTTCCCCTGTATGTTTGTTTTGGTCGTTCACATTATAGGCTTTCCTCAGAGTTAATGGTCTTGGTAGTCTACTCATATTTAAGTGTGGAACACCAAAAAGCTTACTATAAGCTGAGAGTGTGGTAAAGGGCTCTTTGTTTTACTATGACCTACCTGAGCTATCTTGCTGGGGAACACCCTAATGTCAGTCTCTTTATAAAGGGCCTTTCATTTTGGCCTGGCAAGAAATACTCTTTCATCCTCCTGCATGGAGGGCAAAAAAAAATTTAAAAATTGGCTGCTAGGGTCTGTCTGCTCACTTCCCTGTTTTGCAGACCCCACACTCTTCTGCAATTCATTTCATAGTTGTCAAGACTATACAAATTGTCCTTTTTAATGTTCTCTCTTCTGCTATCCCTAGTTGGCAGTCTTCCTCTTTACAACCTGCTGAAAGTGGAAGACCTCCAGTTTTCCTTTAATTCCTCAGCAAACCACCAACTATTATATGTCTTTTTTCCAGAACAACTTATTTTTTAACTATAATTATATGCATTTATGTTAGATTCACTGAAAACCTCATCTTGTATGGTGCTCTGTACCCTATGGGTGCTAAATAAAGGCTTGCTACTGGCAACTGGA)$ . 11BR060 ENSG00000128829.12 ENSG00000104067.16 +/+ -/- chr15:39934339 chr15:29734382 CDS/splice-site CDS/splice-site inversion 0 2 0 13 20 medium in-frame . RWD_domain(100%)|Guanylate_kinase(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%),ZU5_domain(100%) . . ENSG00000128829.12 ENSG00000104067.16 ENST00000263791.10 ENST00000346128.10 downstream downstream duplicates(1) ^(AGCGCGGAGCCCCGCCCCGCAGGCTGCCGGGGGCCCACCGCCGCCCAGGCAAGGCCGCCCTGCCTTGGGCGCAGCGCTGCCATGGCTGGGGGCCGTGGGGCCCCCGGGCGCGGCCGGGACGAGCCTCCGGAGAGCTACCCGCAACGACAGGACCACGAGCTACAGGCCCTGGAG)GCCATcTACGGCGCGGACTTCCAAGACCTGCGGCCGGACGCTTGCGGACCG|GTAAACAACGTAGATTTTACAAATATCATAAGAGAAGAAGCCGTCCTTTTCCTGCTTGACCTCCCTAAAGGAGAAGAAGTGACCATATTGGCTCAGAAGAAGAAGGATG___TTTATCGTCG(CATTGTAGAATCAGATGTAGGAGATTCTTTCTATATTAGAACCCATTTTGAATATGAAAAGGAATCTCCCTATGGACTTAGTTTTAACAAAGGAGAGGTGTTCCGTGTTGTGGATACCTTGTACAATGGAAAACTGGGCTCTTGGCTTGCTATTCGAATTGGTAAAAATCATAAGGAGGTAGAACGAGGCATCATCCCTAATAAGAACAG___AGCTGAGCAGCTAGCCAGTGTACAGTATACACTTCCAAAAACAGCAGGCGGAGACCGTGCTGACTTCTGGAGATTCAGAGGTCTTCGCAGCTCCAAGAGAAATCTTCGAAAAAGCAGAGAGGATTTGTCCGCTCAGCCTGTTCAAACAAAGTTTCCAGCTTATGAAAGAGTGGTTCTTCGAGAAG___CTGGATTTCTGAGGCCTGTAACCATTTTTGGACCAATAGCTGATGTTGCCAGAGAAAAGCTGGCAAGAGAAGAACCAGATATTTATCAAATTGCAA___AGAGTGAACCACGAGACGCTGGAACTGACCAACGTAGCTCTGGCATTATTCGCCTGCATACAATAAAGCAAATCATAGATCAA___GACAAACATGCTTTATTAGATGTAACACCAAATGCAGTTGATCGTCTTAACTATGCCCAGTGGTATCCAATTGTTGTATTTCTTAACCCTGATTCTAAGCAAGGAGTAAAAACAATGAGAATGAGGTTATGTCCAGAATCTCGGAAAAGTGCCAGGAAGTTATACGAGCGATCTCATAAACTTCGTAAAAATAATCACCATCTTTTTACAA___CTACAATTAACTTAAATTCAATGAATGATGGTTGGTATGGTGCGCTGAAAGAAGCAATTCAACAACAGCAAAACCAGCTGGTATGGGTTTCCGAGGGAAAG___GCGGATGGTGCTACAAGTGATGACCTTGATTTGCATGATGATCGTCTGTCCTACCTGTCAGCTCCAGGTAGTGAATACTCAATGTATAGCACGGACAGTAGACACACTTCTGACTATGAAGACACAGACACAGAAGGCGGGGCCTACACTGATCAAGAACTAGATGAAACTCTTAATGATGAGGTTGGGACTCCACCGGAGTCTGCCATTACACGGTCCTCTGAGCCTGTAAGAGAGGACTCCTCTGGAATGCATCATGAAAACCAAACATATCCTCCTTACTCACCACAAGCGCAGCCACAACCAATTCATAGAATAGACTCCCCTGGATTTAAGCCAGCCTCTCAACAG___AAAGCAGAAGCTTCATCTCCAGTCCCTTACCTTTCGCCTGAAACAAACCCAGCATCATCAACCTCTGCTGTTAATCATAATGTAAATTTAACTAATGTCAGACTGGAGGAGCCCACCCCAGCTCCTTCCACCTCTTACTCACCACAAGCTGATTCTTTAAGAACACCAAGTACTGAGGCAGCTCACATAATGCTAAGAGATCAAGAACCATCATTGTCGTCGCATGTAGATCCAACAAAG___GTGTATAGAAAGGATCCATATCCCGAGGAAATGATGAGGCAGAACCATGTTTTGAAACAGCCAGCCGTTAGTCACCCAGGGCACAGGCCAGACAAAGAGCCTAATCTGACCTATGAACCCCAACTCCCATACGTAGAGAAACAAGCCAGCAGAGACCTCGAGCAGCCCACATACAGATACGAGTCCTCAAGCTATACGGACCAGTTTTCTCGAAACTATGAACATCGTCTGCGATACGAAGATCGCGTCCCCATGTATGAAGAACAGTGGTCATATTATGATGACAAACAGCCCTACCCATCTCGGCCACCTTTTGATAATCAGCACTCTCAAGACCTTGACTCCAGACAGCATCCCGAAGAGTCCTCAGAACGAGGGTACTTTCCACGTTTTGAAGAGCCAGCCCCTCTGTCTTACGACAGCAGACCACGTTACGAACAGGCACCTAGAGCATCCGCCCTGCGGCACGAAGAGCAGCCAGCTCCTGGGTATGACACACATGGTAGACTCAGACCGGAAGCCCAGCCCCACCCTTCAGCAGGGCCCAAGCCTGCAGAGTCCAAGCAGTATTTTGAGCAATATTCACGCAGTTACGAGCAAGTACCACCCCAAGGATTTACCTCTAGAGCAGGTCATTTTGAGCCTCTCCATGGTGCTGCAGCTGTCCCTCCGCTGATACCTTCATCTCAGCATAAGCCAGAAGCTCTGCCTTCAAACACCAAACCACTGCCTCCACCCCCAACTCAAACCGAAGAAGAGGAAGATCCAGCAATGAAGCCACAGTCTGTACTCACCAGAGTTAAGATGTTTGAAAACAAAAGATCTGCATCCTTAGAGACCAAGAAGGATGTAAATGACACTGGCAGTTTTAAG___CCTCCAGAAGTAGCATCTAAACCTTCAGGTGCTCCCATCATTGGTCCCAAACCCACTTCTCAGAATCAATTCAGTGAACATGACAAAACTCTGTACAG___GATCCCAGAACCTCAAAAACCTCAACTGAAGCCACCTGAAGATATTGTTCGGTCCAATCATTATGACCCTGAAGAAGATGAAGAATATTATCGAAAACAGCTGTCATACTTTGACCGAAGAAGTTTTGAGAATAAGCCTCCTGCACACATTGCCGCCAGCCATCTCTCCGAGCCTGCAAAGCCAGCGCATTCTCAGAATCAATCAAATTTTTCTAGTTATTCTTCAAA___GGGAAAGCCTCCTGAAGCTGATGGTGTGGATAGATCATTTGGCGAGAAACGCTATGAACCCATCCAGGCCACTCCCCCTCCTCCTCCATTGCCCTCGCAGTATGCCCAGCCATCTCAGCCTGTCACCAGCGCGTCTCTCCACATACATTCTAAGGGAGCACATGGTGAAG___GTAATTCAGTGTCATTGGATTTTCAGAATTCCTTAGTGTCCAAACCAGACCCACCTCCATCTCAGAATAAGCCAGCAACTTTCAGACCACCAAACCGAGAAGATACTGCTCAGGCAGCTTTCTATCCCCAGAAAAGTTTTCCAGATAAAGCCCCAGTTAATGGAACTGAACAGACTCAGAAAACAGTCACTCCAGCATACAATCGATTCACACCAAAACCATATACAAGTTCTGCCCGACCATTTGAACGCAAGTTTGAAAGTCCTAAATTCAATCACAATCTTCTGCCAAGTGAAACTGCACATAAACCTGACTTGTCTTCAAAAACTCCCACTTCTCCAAAAACTCTTGTGAAATCGCACAGTTTGGCACAGCCTCCTGAGTTTGACAGTGGAGTTGAAACTTTCTCTATCCATGCAGAGAAGCCTAAATATCAAATAAATAATATCAGCACAGTGCCTAAAGCTATTCCTGTGAG___TCCTTCAGCTGTGGAAGAGGATGAAGATGAAGATGGTCATACTGTGGTGGCCACAGCCCGAGGCATATTTAACAGCAATGGGGGCGTGCTGAGTTCCATAGAAACTGGTGTTAGTATAATTATCCCTCAAGGAGCCATTCCCGAAGGAGTTGAGCAGGAAATCTATTTCAAGGTCTGCCGGGACAACAGCATCCTTCCACCTTTAGATAAAGAGAAAG___GTGAAACACTGCTGAGTCCTTTGGTGATGTGTGGTCCCCATGGCCTCAAGTTCCTGAAGCCTGTGGAGCTGCGCTTACCACACT___GTGATCCTAAAACCTGGCAAAACAAGTGTCTTCCCGGAGATCCAAATTATCTCGTTGGAGCAAACTGTGTTTCTGTCCTTATTGACCACTTTTAACTCTTGAAATATAGGAACTTAAATAATGTGAAACTGGATTAAACTTAATCTAAATGGAACCACTCTATCAAGTATTATACCTTTTTTAGAGTTGATACTACAGTTTGTTAGTATGAGGCATTTGTTTGAACTGATAAAGATGAGTGAGCATGCCCCTGAACCATGGTCGGAAAACATGCTACACACTGCATGTTTGTGATTGACGGGACTGTTGGTATTGGCTAGAGGTTCAAAGATATTTTGCTTTGTGATTTTTGTAATTTTTTTATCGTCACTGCTTAACTTCACATATTGATTTCCGTTAAAATACCAGCCAGTAAATGGGGGTGCATTTGAGGTCTGTTCTTTCCAAAGTACACTGTTTCAAACTTTACTATGGCCCTGGCCTAGCATACGTACACATTTTATTTTATTATGCATGAAGTAATATGCACACATTTTTTAAATGCACCTGGAATATATAACCAGTGTTGTGGATTTAACAGAAATGTACAGCAAGGAGATTTACAACTGGGGGAGGGTGAAGTGAAGACAATGACTTACTGTACATGAAAACACATTTTTCTTAGGGAAGGATACAAAAGCATGTGAGACTGGTTCCATGGCCTCTTCAGATCTCTAACTTCACCATATTACCACAGACATACTAACCAGCAGAAATGCCTTACCCTCATGTTCTTAATTCTTAGCTCATTCTCCTTGTGTTACTAAGTTTTTATGGCTTTTGTGCATTATCTAGATACTGTATCATGACAAAGACTGAGTACGTTGTGCATTTGGTGGTTTCAGAAATGTGTTATCACCCAGAAGAAAATAGTGGTGTGATTTGGGGATATTTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTGACAAGGGGCAGTGGTGGTTTTCTGTTCTTTCTGGCTATGCATTTGAAAATTTTGATGTTTTAAGGATGCTTGTACATAATGCGTGCATACCACTTTTGTTCTTGGTTTGTAAATTAACTTTTATAAACTTTACCTTTTTTATACATAAACAAGACCACGTTTCTAAAGGCTACCTTTGTATTCTCTCCTGTACCTCTTGAGCCTTGAACTTTGACCTCTGCAGCAATAAAGCAGCGTTTCTATGACACATGCAAGGTCATTTTTTTTAAGAAAAAGGATGCACAGAGTTGTTACATTTTTAAGTGCTGCATTTAAAAGATACAGTTACTCAGAATTCTCTAGTTTGATTAAATTCTTGCAAAGTATCCCTACTGTAATTTGTGATACAATGCTGTGCCCTAAAGTGTATTTTTTTACTAATAGACAATTTATTATGGCACATCAGCACGATTTCTGTTTAGATAATACACCACTACATTCTGTTAATCATTAGGTGTGACTGAATTTCTTTTGCCGTTATTAAAAATCTCAAATTTCTAAATCTCCAAAATAAAACTTTTTAAAATAAAGTGCTGGCTTGGTCTGTTTGCCCACTGTTTTCTAGTTTCATGCAGCTTTATAATCCTGTTTTAAAATCCTGCACACAAATCCCTATCACCCAGCGTCACCTACCACCTCGTCGTCTGGTGTTGCATGCAGAATTTCTCCCCTTGGCCAGCATGTACAGATGGGTGGGCAGTGCTCATCTGAAGGGCTCAGACTGAAGTGGGGCAGAAGGACCTGGAGACAGAGTGGGAGAAGGCAGCAGGCCGACTTCCCCCTGTGGGTAAACACACACCCCTGCGTGGAGAAACACCCCTGCATGGGGACACACGTGCGTTTGTGTGTGTGCGTGTAACCATTTGTATATGGTTTTATTCCCCAGATAAATAGCACGGGCATTGTTTAATGTCACCCACATTTGGGGGAAGAAAATGGGTTTAGTGAGCATAAATATTCCATTGTGGACATCCTACTTACTTAACTGCCACCCCTGTTGACATTTGGATTATTGCTATAGTGTTTCAGTAAACACCTTTGTGGACTGAATCCATCTATGTGGATTTTATTTTTTTCATCTTTGTTAAGGTATAATTTACATAGAGTAAGTTACTGTTTTTAAAATGTATAGTTCAAATTTTGACAAACACATACTGTTTATTTACCACGGTTAATACATACAACAGTTTCTTTATCTTCTCTAATCATTTGTACCCCTTTATACTCAACCCTTCTTCCAGCCCCTGGCAGGATGATCTCTTCTGTTTCTATAGTTGCCTTTTTGACAGTGTCATATAAATGGAATCATACAATA)$ MAGGRGAPGRGRDEPPESYPQRQDHELQALEAIYGADFQDLRPDACGP|VNNVDFTNIIREEAVLFLLDLPKGEEVTILAQKKKDVYRRIVESDVGDSFYIRTHFEYEKESPYGLSFNKGEVFRVVDTLYNGKLGSWLAIRIGKNHKEVERGIIPNKNRAEQLASVQYTLPKTAGGDRADFWRFRGLRSSKRNLRKSREDLSAQPVQTKFPAYERVVLREAGFLRPVTIFGPIADVAREKLAREEPDIYQIAKSEPRDAGTDQRSSGIIRLHTIKQIIDQDKHALLDVTPNAVDRLNYAQWYPIVVFLNPDSKQGVKTMRMRLCPESRKSARKLYERSHKLRKNNHHLFTTTINLNSMNDGWYGALKEAIQQQQNQLVWVSEGKADGATSDDLDLHDDRLSYLSAPGSEYSMYSTDSRHTSDYEDTDTEGGAYTDQELDETLNDEVGTPPESAITRSSEPVREDSSGMHHENQTYPPYSPQAQPQPIHRIDSPGFKPASQQKAEASSPVPYLSPETNPASSTSAVNHNVNLTNVRLEEPTPAPSTSYSPQADSLRTPSTEAAHIMLRDQEPSLSSHVDPTKVYRKDPYPEEMMRQNHVLKQPAVSHPGHRPDKEPNLTYEPQLPYVEKQASRDLEQPTYRYESSSYTDQFSRNYEHRLRYEDRVPMYEEQWSYYDDKQPYPSRPPFDNQHSQDLDSRQHPEESSERGYFPRFEEPAPLSYDSRPRYEQAPRASALRHEEQPAPGYDTHGRLRPEAQPHPSAGPKPAESKQYFEQYSRSYEQVPPQGFTSRAGHFEPLHGAAAVPPLIPSSQHKPEALPSNTKPLPPPPTQTEEEEDPAMKPQSVLTRVKMFENKRSASLETKKDVNDTGSFKPPEVASKPSGAPIIGPKPTSQNQFSEHDKTLYRIPEPQKPQLKPPEDIVRSNHYDPEEDEEYYRKQLSYFDRRSFENKPPAHIAASHLSEPAKPAHSQNQSNFSSYSSKGKPPEADGVDRSFGEKRYEPIQATPPPPPLPSQYAQPSQPVTSASLHIHSKGAHGEGNSVSLDFQNSLVSKPDPPPSQNKPATFRPPNREDTAQAAFYPQKSFPDKAPVNGTEQTQKTVTPAYNRFTPKPYTSSARPFERKFESPKFNHNLLPSETAHKPDLSSKTPTSPKTLVKSHSLAQPPEFDSGVETFSIHAEKPKYQINNISTVPKAIPVSPSAVEEDEDEDGHTVVATARGIFNSNGGVLSSIETGVSIIIPQGAIPEGVEQEIYFKVCRDNSILPPLDKEKGETLLSPLVMCGPHGLKFLKPVELRLPHCDPKTWQNKCLPGDPNYLVGANCVSVLIDHF* 11BR060 ENSG00000163558.13 ENSG00000043093.15 +/+ -/- chr3:170235351 chr3:182965753 CDS/splice-site CDS/splice-site inversion 0 2 0 30 26 medium out-of-frame . PB1_domain(100%)|Cullin_binding(100%),UBA-like_domain(100%) . . ENSG00000163558.13 ENSG00000043093.15 ENST00000295797.5 ENST00000292782.9 downstream downstream mismatches(1) ^(GACGCAGGAGGTGTCTTGGGCCCGGGCGGCTGTAGAGGCGGCGGCGCCTACGGGCAGTGGGAGGAGCCGCGCGGTTCCGGCTGCTCCGGCGAGGCGACCCTTGGGTCGGCGCTGCGGGCGAGGTGGGCAGGTAGGTGGGCGGACGGCCGCGGTTCTCCGGCAAGCGCAGGCGGCGGAGTCCCCCACGGCGCCCGAAGCGCCCCCCCGCACCCCCGGCCTCCAGCGTTGAGGCGGGGGAGTGAGGAGATGCCGACCCAGAGGGACAGCAGCACCATGTCCCACACGGTCGCAGGCGGCGGCAGCGGGGACCATTC)CCACCAGGTCCGGGTGAAAGCCTACTACCGCGG___GGATATCATGATtcgACATTTTGAACCTTCCATCTCCTTTGAGGGCCTTTGCAATGAGGTTCGAGACATGTGTTCTTTTGACAACGAACAGCTCTTCACCATGAAATGGATAGATGAGGAAG|AACAAGTTGAAATCATCGCAGAAGGATAAAGTTCGTCAGTTTATGATCTTCACACAATCTAGTGAAAAAACAGCAGTAAGTTGTC?TTCTCAAAATGACTGGAAGTTAGATGTTGCAACAGATAATTTTTTCCAAAATCCTGAACTTTATATACGAGAGAGTGTAAAAGGATCATTGG(ACAGGAAGAAGTTAGAACAGCTGTACAATAGATACAAAG___ACCCTCAAGATGAGAATAAAATTGGAATAGATGGCATACAGCAGTTCTGTGATGACCTGGCACTCGATCCAGCCAGCATTAGTGTGTTGATTATTGCGTGGAAGTTCAGAGCAGCAACACAGTGCGAGTTCTCCAAACAGGAGTTCATGGATGGCATGACAGAATTAGG___ATGTGACAGCATAGAAAAACTAAAGGCCCAGATACCCAAGATGGAACAAGAATTGAAAGAACCAGGACGATTTAAGGATTTTTACCAGTTTACTTTTAATTTTGCAAAGAATCCAGGACAAAAAGGATTAG___ATCTAGAAATGGCCATTGCCTACTGGAACTTAGTGCTTAATGGAAGATTTAAATTCTTAGACTTATGGAATAAATTTTTGTTG___GAACATCATAAACGATCAATACCAAAAGACACTTGGAATCTTCTTTTAGACTTCAGTACGATGATTGCAGATGACATGTCTAATTATGATGAAGAAG___GAGCATGGCCTGTTCTTATTGATGACTTTGTGGAATTTGCACGCCCTCAAATTGCTGGGACAAAAAGTACAACAGTGTAGCACTAAAGGAACCTTCTAGAATGTACATAGTCTGTACAATAAATACAACAGAAAATTGCACAGTCAATTTCTGCTGGCTGGACTGAACTGAAGATCAATCCTCACAATTCAGACTGAGGGTTGAGACAAAACTTTAAGGATACATCTTGGACCATATCGTATTTCATTCTTCTAATGGTGGTTTGGGCTTGTCTTCTAGTCTGGGCCGCTCTAAACATTTATAATTCCAACATTGTGGATTTCATCTTATATCTGTGGACCATCCTAGTTTATTCTCCCATAAGTCTTAGAAGCTTTATGGTGATTATTTTGAGGTTTTCATTCTCGCATAAAGCACAATGCTGTCTTCATCAGAAAACAGTTGGCATAAGAATTAAACATATGAACATCACAAAACAATTTATAAAAACTTCTTAAATATACGCTTTGGGCTAGTTGCAAAGACTATGCTAATAGCACTTCCAGTGAGAGTGATATATTTAAGTGTACTGGATCTGGAATGGTGTTTTGGTTTGGGGGGAATTTTTTTTTTTTCCTGGCAAATCACATGTGTTGTTGATGTGAGTATCTGATGAAAAAACAATGTCAGAATAACCGACATGAAAATTTTTTAGGATAACTTGGTGCCTACCTGAAAAATGTATTGTGTTTTAGACTCTTGATTTCAAAAGGTTCCACAGAACTAGTCTGCGCTTACCTTACCCATGTTTATATATAGCTGTCCTACAGGGAGCTTTTATTTAGAAAATGTCTGCATAATGTTAGATTCTTCTCCTGTCTACATTATGCACTACATAATTGGACTTCATTATGCTTTTGAAATGCTTATCTGCCTGTCACATAAGTTAAACTATTTAATTTGTTTTGAATGTTTTGGATTGCTACACAATACAATATTCTAAATTTAGGCATGAGGGTTTTTTTGTTTTGTTTTTACTTTTTTTTTGTCATCGCACTATGGAACACAAATGGAATTCTCTTAATTTATAAGAAGATAGTTGCAGTTAAATTTTGAAAATGGTTGTAATGAGCCATGAAGTTCAATCTTTATAATATAGGTACTGCTCTTTCAGACAAATAGTCCATTTTCGATGACTTATTATTTTGTTGAAATTGCTTTAACTGCTAATCACTGTGGTTGCCAAATATTTACTTCAGGAGCAAAGATTTTCAAACAAGCATACACGATGCAAAATACCAATCTGGCTTCTAGTCTCTTTACTGTTTTCGTTTCACTCAGATTAGCTCAGTTTTCTCATCAAAGCAGAATGCTATCTTGTATGTATTTTTTTCATTACAAGCCCCATGAGCTGCTTTTATGCTGAAAATGGTCATTTCCCTGTTCACTTACTGACATGTGAAGAAGGGTTTCTTGCTTTCTTAAACATTTCCGTAAGGCAGGCTAGAAATGTAATACTTCAAATGTTTGATGATTATGGTCTTTTGATAGGAATAGATTCTGCTTGGGATATATATCCAGGCACTCTCTAAGGTCTAGGGTTGATATTAACAAAGGAATGTACTTAGAATAGCAGTACATTTTATGCAAATATGGAAATTATTTTAAGAAACAATGACATATCAAAACTGCTTTTTACATGATTTTGAAATAGACTAGAAAGCTTTCCCTATAGACATATTAATATTCCAATCATAACTTTAATTCAAGAATGCAGTTTTACCAAAAGAAAAATTTGAAAATTTCTATTCAGGCTACTGGAATTGGTTATTAAAAGAAAAAGGAAAAAGAAGAATCTTGCTGCTTTCAGTATTTCCTGATTTTTTTGTAAATATAAAGAGGAACTTCAATTATGAAAAATTTTTAAAAGATATATATATCTATATATCTATATATATGTACTGTTTTGTTTCCTGTCTTGAAGATTTTGAGTTATGGTTATTGGTTTCAGATTGATTAATTCACATATGCTGTGTTTTGAAATGAGATCCCATTAGCTTTTTTTTTTTTTTTTTTTTTTCAATATAAAGTGTTTTCTTTAAAAGTCATATTGGTTCGTGGCCTAGTGCCTTGGATTTTACATATTTTTCTTTTTAAATGCAAAACCTTTTCAACAAAATAGTGTTTGTCATCAGGTTGGTACTAAACATTTATAATTACTGTGTAATTATAAACAAAAATACATAAAGCTTTGAATATAATTATGTAGCATAAAAGTTAAGGTTGTTCACTATGATGGCATCTTAGAATTAAACAAAACTTTTACTAGGGCTGAAAAGAGAAGACTGATTTAATGTGGTGTGATTATTCTGAAGATAAATGTCTGGCTACAGGGAATATTTTGTACTAAAAAATGATTACACATATGGCTGTGTGTGTTTGAGTCTGTGTCTGTGAGAGAGCCAGAGAGAGTGAGAGAGATTGACAGAGAAAGGGAGAGACACACACACGCCCCTTGAATTGCTTTAACTCCTAAGTGTTTCAGTCCTCATTCCGGTAAACTCCCCATGCTGATTCTTTGTTTTAAACTGAACCATAGGTACAGTTTCCTTTTTGCCAAATGTCAAAACAGGTACAAATTTTAAAATGTAATGCTTTTTAAATAGAAAAATGTATAAAATTAGAAGTGCCCACATATAAAAAATACTTGAGATGAAGATTATCTTTAGTGAATATCATCTGCATATCTCTGTAAGTTCAATTGTGTTTCTTACAGTCCCTGTCATATTACCAACAGAGGCAATAAAAGCTGCAGTGAAATTGCCATGACTAAATCTTTTCACATATTTCAGTGTATTTTTTTTATAGATTTAAAATATACCTGAAAACTTTTCTAGGAAGAATAATTATTCATGGAAAGAGCATTGTAATGGCATGTTTTGGGGAGAAAAGACATGCCAAGTCTTGTTTACTACATTTAAGATGTTTACAACTATACTGGGCTGCTTTATTAACAATACTGTACTTGCATAATATGGCATTATAAGTACATGTCCTTCCTTAGACTTTTAAAAAGTTTTAATGAGAGAAAGTAAATTTACTCAACAAAATAACATGAGAAATCCTTTACGTAATATCTTTACTGGGGAATTCTTATTTAAGCAAGGTACACTATTTTTTCCTCAGACTTAAATGAATGAAGTGTTCATTTATTTTTTATTTGATGATAATCAAGAAGTGAGTAGTAGTAGCTAACTTAATGTACACTTTGCTTAGGTTTTTAAACATGTTACTATTAAGACTACGTATTGTAAACCTTCTGTAATTTTCACATATGAATGACAGGAGAAAGTTAAACCTAATCGAAGGAGTTTTGGAATAAAAAAGTGGTGCTGGGGAAATTCACCATGGTTCACAAAGTATGCCTTTGTAAAACTGAATCAACTTTTAGCAAGAATTAATTTATGTAGTTTTAAATGTTAAATTGTGTATATTTAACAGAAAATACTTATCTGGCACCTCAGCAGTTTTAATGTTACCTTATACTTTTAACAGTATGATTTATATTGAATACTTAGATGTTTTCATAAGATTTTATCAAATTTGATAATGTAATGATAAAATGTTTTTTTAAATGTGAACTATTTAACATATAAATGGGGACACAAAACCTGAATTGTGATTTCTACATAATGTGATAATTAGGGTTCAAATTATGACTCATCATTTAATTGATTATAAATGAGTATATTTCTGAACTCTTTATTGCCTCCATTTTTACAATCATAATATAGCAATAATTTCTATTTTTATTTCATAGGACTGTGGTGAAGTTATTTATCATGACACCTTTATCTTTGATTTCTGAGGGAAAGGGGTGTATATTTTGTAGTTAAGATAAATGAGAAAGTTCCTAATAGTACAAATGCCCTTTTCCAGGTTTATCTTTGCTATTTGTTGCCATTTTTCTTAAATATTTGCTTTATTTGTACCCGATTTCTGGAGGCAAATAGTGCTGTTTTTTCAAACTCATAATATAGTTACATAAATGATTTTATCAGAGCATTCTTGCTATCTTATTTTCTTTCCTACCTGTTGAGTAAGTAGCATTTCTTGCTCACCAACTCATTTATTTGACTAGGTTCAGTGTTTCCTATTAATGTGTTTTTTTATTTTCCTTTGGTTGATTTTGAAAAATCTGTCACAAATAAGGAAGTTATGGTAAAAGATGCACAGCCTTTGTAGTTAGTGGAATTCTCAATAAGTAATGTCTTTATGGAGTTTTAAAGGGAAATTATTTAAAGGGAATCATGTTATAGTTGTCCATTTTTTAAATTGAGATTTTAAAAGTGTTTTTAAGTATAGCCCAATTTTCTATTTACTTACAAGTGCTTCATGATTGTTTTCTTTTTTATTTTTTGCCATCATGCTGTGCAGAAATCATAATGTAGCTTGTAATACTTCAGAGCATTGGTCTTGAAGCTGTAACTTGGGGCTGCTGTCCTTCATGAGGTAGGGCCATAGCAGGCAGGCCCTTTCCCACTTCCTTTATGGCATTCTACTTTTATCTGTTGTAGGCTGTTAGTGTTTCATATTCGATTTGGTTTGGGGAAAAATACTCAGTTAAAAAAATTTTTTTTAATGATTGGCTTTAGAGGGACTGTTACCTCTTTGGCATATCTGTCAGCGGAATGGAAAGAAATGGAGTCAGACTGAAATTCATGCCAGCTTAATCACTGAAGGCAGCACTGCTTTGAAAAGAAGAATTTTCAACCCACATCGTAAAAACAAAGCCTGATTGGAAACAATGAAGTGTTTGAAACTTAGGGGCAGCATGTAAGTGGCTTAATGAGCAAACAAACGGAACATACTCATTTTATATTTAAAAAGTACATATATATTCAAATGCATGTTCATATGAATATTATAATTTTATTTCAGGTTATGAAATATTCTGAGAAAACCTTATATCTGATGGAAAACTTGGGCAATACCCAATACGAAGCAAGAGATTTTTACAAAAAGAAATACTATAGGGCATAAGGTTGGGGGAAGACCAATTAATGAAATGGCTAAGGGACAATGCTAATTAAATCGTTAACAGTGATTTTGTCACATAATTACATGACTTATAGCTAAAAGAGCAATATTTAATCAGTAAGATTTAGAGATGGGTGTACTTGGAATCCTTTGAAAGCAGCGTGTTTAGTTTTCAAGCAAATGCTAATGTTCTTAATCCTAATAGTATATTAGACTTCGTTGTGTTGAATATATCAAATGAACGAACTATGAACCAGAGCTTTAAAATAGTGATTTGTAAGACTTTGTTACAATGGTACTTAAAAAATTGCTTTGTATAATTTACACACTGTAAAATTCACCCATTGTACATGTACAATTAATTGTTTTTAGTAAACTTAAGAGTTGTGCAGTCCAATTTTAGAACATGTCCATCAGCCCCCAAAATTTACTCCTGCTGCTCTGCGGTTAATTTGCTCCTGCCTCCAGCCCCACGCAGCCACACTGATCTGCTTTCTGTACAGATTTACCCTTTCTAGAAATTTCACAGAGGTAGAATCATGCAGTTAGTCTTTTATATCTGGCATCTTTCACTTAGCATGTTTTTGAGGTTCATCCATGTTGCAGCTTATACCTGCGTGTAGTTCCTTTAGTTGCTGACTTAGTGTTCACTGTTTGGATATACCACATTTTGTTTATCCATTCACCAGTTGATAGACATTTGGCTGGCCTACAATTAGTTTTTTTAAATTGCGAATAATAATGCTATGAACATTCATAAATGTCTTTGTGTGGACATGTTTTCATCTCAGATTCCTAGTTGTGGAATTGTCAGGTTGTGTGGTAAATTTATACCTAACGTTTTTAAAAAAACTGCTGAACTTTTTCCAAAGTGGCTGTACTTCTAGAACTATTCCTGCCACAGTGCATGCGGACTGCCGTGTCTGCACATCCTTGCCAATACTTGTCTTTTTTATTGCAGCCATCCTGGCGGGTATTTACTTTATGTGTGTGAGTTATACCTAGGCATCCCAACTCGTGTATCGATTGGATGTGCAGTTTGAGTGAGTTTCAAGTGGCCTCAGCGATTGCTGTAAAATTAGTTACTCTAGTAGACATGTACTCTCTTGGAGGTAGTATTTTCTGTAGTCAGTGAGGGTAATAATAATACTTCCAGTGGGGGTTCCAGTCCCTCAGTGATCTCTGGTGAGAAGAAATGTGTCAGCGAAGAGTGGTGCTGATGGCTGGTGCTTTGGCTCTGTTATTGTTTGTACCAAGGTTGATACAGCTACTCGACTAGCCTATGACTGACTGGTGGTGGTAATTAAACTTTGTACAGATTACTGTGTGCAGATAGTTACTGTCTTAATATTAAGTTTCCCAGAGATTTTACTTTTGAGATAGCTGAGAATTAACGACTCTTGGAATTTATAAAAATTTAGTTGATACCATTTAGTTGCTGCCAGCTGCCTGTGTTCTTATACATAGGAGACATCGGAGTGAGTGCTTTTTAAAAAATTAATGGCGTATGTCAGGTATATGTAAAAGGACAATTGCATAATGAACTCATGTTAACATGATCAATCCATGGCCAATCTTGATTTATCTAAATGCCATTCATCTTTGAACCCCTATTTATTTTGAAGCAAATCCCAGATAGCAAATCATTTCATTTGTAAATATTTCAATATGTATGTCTAAAAGATAAGGACTGTTAAATAAAACCACAATTCTGTTGTTAGACTTAACTGTTAACAGTTTGTTAGTGTTAATAACTACCCAGCAGTGTTCAAGTTGTGCCTTTTTTTTTTTTTTTCCAATTCAAGTCAGGATTCAAATAAGATTCCTACATTGCATACATCTCAAATGTCCTACCCAGTGGATCCCCACACTCTCCACTCTTTGGCTTCAAATTCATTTTTTTGAAAAAACAATGATTGCTTTAGCACTTTAAATTTCTATGCAATTTCAAATGTAAGGTGAAATTTTGATGTACTTAATAAAAAAATTCTAACGAATATATTTTTCAAGTTAATGTAGTATATAAGAAGCTATTATATCAACAGATTTTCCTTTAACTTAAAAATACATCGTGACTTGTA)$ MPTQRDSSTMSHTVAGGGSGDHSHQVRVKAYYRGDIMIrHFEPSISFEGLCNEVRDMCSFDNEQLFTMKWIDEE|eqveiiaeg* 11BR060 ENSG00000166068.13 ENSG00000166068.13(96742),ENSG00000171262.11(136) +/+ ./+ chr15:38253217 chr15:38453991 CDS/splice-site intergenic deletion/read-through 1 1 0 30 4 medium out-of-frame . . . . ENSG00000166068.13 . ENST00000299084.9 . downstream upstream . ^(GCTGCGCTCCACCCCAGTGGCTGGAGGAGCAGCTCTCCAGTCAGCCTTTGCAGCCCCTCTCTTTTTCCCTTTCCACCGGGCCTCCTCGGATCCCTTGGCTGGGCACTGAGGCGGGGGAAGAGGCTGGGGTCGCCACGGCGGAGGTTGCTGCCGCCACCCCCCTGCGGGGGTGGCCGGGGTTCCCGGCTGGGGGGGTACCGTTCTGGGTGAGGCATCCACCATGGTGAGGCCCCTGTGCCGCTGCCCCCGCGCC)CCCCCGGCCGCCGCTGCCTCCTGCCCCTCGGTGCTGCTGTTGCTCCCCCGCCTGCTGTTGCTCCTCCATCTCCAGATCGGATCACGGTGAGGGAAAGATGAGCGAGGAGACGGCGACTTCTGACAACGA|CGGTTTTAGGCACTATGAAGTGTTTATTGCCTCGGGGCTGGGAACCTTTGCGCCCTTCTTCAGCTG MSEETATSDNd|gfrhyevfiasglgtfapffs 11BR060 ENSG00000184863.11 ENSG00000102468.10(145857),ENSG00000234590.1(264149) +/+ ./- chr7:155644919 chr13:47042933 CDS/splice-site intergenic translocation 0 2 0 28 15 medium out-of-frame . . . . ENSG00000184863.11 . ENST00000401878.8 . downstream downstream . ^(GGGCGCGGGCGCGCGGCCATGTTGCGGTAGTTTGTTGTTTTCTTCCTGCGGAGGCGAAGGGCCAGCTGTGGACCGCGAAGCGCCCGGCTTCGCCTCTGCCTCCTGCAGCCCCCTCCCTTCTCTGTCCTCCGTCACCCGTACCCGGGCCCGGACCAGGCACGTCGGCCCACCAGCTGGCTTGGTGGGGGAGGCTGAAGGCCGGGCCCCGCGAGTGCCATGGCGGCCG)CCCTGGGAGCGAGCGGAGGAGCAGGCGCCGGAG|CCCCTGGAAACCACCATTTCATTCTTTGGTTCTGTAAATTTTGAGCACTTTTCTATGCCTCAG___GTACTCTTTGGAAGTTTTCAGCCACTGGAGAAACTgTAGTTGATTCCAATTTAGA...___GTCAGACAACCGGCAACTGGCAGACAACTGGAAAACATGGACACATCCTGAGGTGGGAGCTCCTCCTTCTTGCTGCACTGTTGAACTGCTCCTATAGTCTTGGATAAGACTAAGTACTGGGTCCTGAGATCACACTAACACCTGGGACAATTGCTTTAGGGAC MAAALGASGGAGAG|apgnhhfilwfckf* 11BR060 ENSG00000225830.14 ENSG00000122870.12(35418),ENSG00000252076.1(2331) -/- ./- chr10:49528417 chr10:58866853 CDS/splice-site intergenic duplication 0 2 0 35 56 medium out-of-frame . . . . ENSG00000225830.14 . ENST00000355832.10 . upstream downstream . ^(GCCACGGGCCTCCCCGCACCAGCAGAAGTCGGAGTCGCTGTTGGGGGCGGTGTCTATGGTTGAGCTGAGGGCGCAGGCGCCACGGCCCGTCGAGCTGGGTTCCAAGGCGGCTGGCGGCGGTAGCGTCTCTGTTTCCTTGTGGGCGCTCGCGCGGCCCTGG___GTAGTCTGTAGAGAATGCCAAATGAGGGAATCCCCCACTCAAGTCAAACTCAGGAGCAAGACTGTTTACAGAGTCAACCTGTCAGTAATAATGAAGAAATGGCAATCAAGCAAGAAAGTGGTGGTGATGGGGAGGTGGAGGAGTACCTCTCCTTTCGTTCTGTGGGTGACGGGCTGTCCACCTCTGCTGTGGGGTGCGCATCAGCAGCTCCGAGGAGAGGGCCAGCCCTGCTGCACATCGACCGACATCAGATCCAGGCAGTAGAGCCTAGCGCCCAGGCCCTTGAGCTGCAGGGTTTGGGTGTGGACGTCTATGACCAGGACGTGCTGGAACAGGGAGTGCTTCAGCAGGTGGACAATGCCATCCATGAGGCCAGCCGTGCCTCCCAGCTCGTTGACGTGGAGAAGGAGTATCGGTCGGTCCTGGATGACCTCAC___GTCATGTACGACATCCCTAAGGCAAATCAATAAAATTATTGAACAGCTTAGCCCTCAAGCTGCCACCAGCAGAGACATCAACAGGAAACTAGATTCTGTAAAACGACAGAAGTATAATAAG___GAACAACAGCTAAAAAAGATCACTGCAAAACAAAAGCATCTCCAGGCCATC)CTTGGAGGAGCAGAGGTGAAAATTGAACTAGATCACGCCAGTCTGGAGGAGGATGCAG|GACCTCCCTTGTGAGATCAATCCCCTGTCCTCCTGTTCTTTGCTCCGTGAGAAAGATCCACCTACGACCTCAGGTCCTCAGACCCACCAGCCCAAGGAACATCTCACCAATTTTAAATCAG___CACACAGGAACTTCCAAACGCCTGAACCGCAGCGGCCAGCCATTCC MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYLSFRSVGDGLSTSAVGCASAAPRRGPALLHIDRHQIQAVEPSAQALELQGLGVDVYDQDVLEQGVLQQVDNAIHEASRASQLVDVEKEYRSVLDDLTSCTTSLRQINKIIEQLSPQAATSRDINRKLDSVKRQKYNKEQQLKKITAKQKHLQAILGGAEVKIELDHASLEEDA|gppl* 11BR060 ENSG00000236052.2 ENSG00000257921.6 +/- +/+ chr22:34039687 chr12:57786163 intron CDS/splice-site translocation/3'-3' 2 0 0 1 62 medium . . . . . ENSG00000236052.2 ENSG00000257921.6 . ENST00000651284.1 upstream upstream . CAAAGGAGCCACTAGAAATGAAGAGCTTGAAAATAGAAGAAAACAAGAAATATCATTGTCTCCTGAAAGGAAATCGGAACCAGGACACAGAGGATGGTTTATTTTGGAAAGGAGCGGGGACTACCTCTTCCTCAGAAGTG|GCAGAGATCTGGCTCCACAAGGAGGCCCAGAAGGAGGGCTGGAGCAAAGCTGCCAAGCTCCAAGGGAGGAAGACCAAAGAAGGCCTGATTGGGCTGTTGCAGGAAGGAAACACAACTGTATTAGTAGAG(___GTAAACTGTGAGACAGATTTTGTTTCTAGAAATTTAAAATTTCAACTGTTGGTCCAGCAAGTAGCCCTTGGAACCATGATGCATTGTCAGACCCTAAAGGATCAACCCTCTGCATACAGTAAA___GGTTTCTTGAATTCCTCTGAGCTTTCTGGACTTCCAGCTGGGCCTGACAGAGAAGGCTCACTCAAGGATCAGTTGGCTTTAGCAATTG___GAAAACTGGGAGAAAACATGATTCTTAAACGAGCTGCATGGGTGAAGGTGCCATCTGGGTTCTACGTTGGCTCTTATGTCCACGGAGCAATGCAGAGTCCCTCACTTCACAAGCTGGTGCTGGGGAAGTATGGGGCCCTGGTCATCTGTGAGACGTCTGAACAGAAAACAAACCTTGAAGACGTTGGCCGCCGCCTTGGGCAGCATGTGGTGGGCATGGCCCCCCTCTCTGTTGGCTCCCTGGACGATGAGCCTGGGGGAGAGGCAGAGACTAAGATGCTGTCCCAGCCGTATTTGCTGGATCCCTCCATTACCTTGGGGCAGTATGTGCAGCCTCAGGGGGTGTCGGTAGTAGACTTTGTGCGGTTTGAATGTGGAGAAGGTGAAGAGGCAGCAGAAACTGAATAGGTTCCAGAGACTTTTGGCCCAGGAGGAATATTTACTTTTAGCTCTGGACATCATTACAAAAAGGAATATTTCCCAAACCTCTTCAGACCGAGAATGCATGGGTAAAATTATTAAATAGTTGTATAATAAAAATAATTTTTTCCTTGTTTGCGTAATACTGGATTTAGCTTTTCTGTGCCTTTCAAAAACAACAGGTGGGCCTTATTGACGTGATAGTGTCGTGGAGAACAGGCATCAACAATACTGCTGCTCCCTTCAACATAGATTTATTATGGTATTTCTGAAATTTCTAACTTATATGTTCTGTCTTACACCTTTTATGACATAGAACTCTTTTGTTCTGTTTTTGCTTTGCGACACTGTGAACCGTGCTTCTGCCTCGGAACCTCCCTAGTTATATTACTTGTGCCACATGGATTTCTTTAGGATTATTGATTCAAACCTAGAGTTGTCTGGAAAATGTGGGTTCTCTTCTTTGTGATTGTCTGTAGTATGCTTTGAAGGTGCTCTGCAGTGGTAGACACACTGGTTCTGGCCTCATTTAATGAAATTAATAACACATGCCCCTATTTCTCTTTTGGATGATGTGTGGGTGGGTGGGTACTGAGGTTTCCTGGCCAGCTGTAAGGCAGATTTTGACATTCTTGTGCCAGAAACAGAAATTAGAGTAGTCCAGTTACCCAGAGAGCTCACTTAACATTGCCTCTTTACTTCCCCAGTACTGAAACATTTCTTCAAGTATAACATAAAATTACCGTAACAAGCAGACCCAGAATACTGAAAATAACTCCATTTGTTCATTATAGGTATCTTTATTTGAAAAGTGAAAAATGCTTTGACACATTACAGATCTGGGTATTTGGATTTTGCCTATGGAGTGCATATATGATTTCAATGATTTACAGGCTAAATAGATTTTAGAAATAATCATCTTAAAATTGAAAACAAAGGTAGGTCCTGGTATAATATTA)$ . 11BR060 ENSG00000163608.15 ENSG00000232374.5(24144),ENSG00000279311.1(3794) -/- ./- chr3:113019542 chr3:158866104 CDS/splice-site intergenic duplication 1 1 0 58 9 medium out-of-frame . . . . ENSG00000163608.15 . ENST00000383675.6 . upstream downstream . ^(GGCCCGGACTGGGTCCCATCGCCCCACCTCCGGTCGCTGGACGTGCTCTCGCGTAGCTCCGCCTTTCGTAAGTCCCCCCG)CCTCGCATGATGGCTGCGGTGCCGCCGGGCCTGGAGCCGTGGAACCGTGTGAGAATCCCTAAGGCGGGGAACCGCAGCGCAGTGACAGTGCAGAACCCCGGCGCGGCCCTTG|GAACCATGCCTGACACTGGGAGCCAGCAGAGAGTTGGACCAACACAGACGTCCTGGAAGAGTCACCTAGAGCTTAGAGCTGAAGAGGGACTAGGGGTGACAGCAAGCCTGGCAGAGGCCACCAACCTGTGAAGACCCTAACTCCCCT MMAAVPPGLEPWNRVRIPKAGNRSAVTVQNPGAAL|gtmpdtgsqqrvgptqtswkshlelraeeglgvtaslaeatnl* 11BR060 ENSG00000213967.11 ENSG00000204256.13(21498),ENSG00000204252.14(1179) +/+ ./+ chr19:23920082 chr6:33003003 CDS/splice-site intergenic translocation 0 2 0 58 7 medium out-of-frame . KRAB_box(100%)| . . ENSG00000213967.11 . ENST00000334589.9 . downstream upstream duplicates(1) ^(GGGGCCTTTGTCTCTATCTGCGGCCGGAGCTCCAGGTCTCGTCCTCACTACTCTGTGTCTTCTGCTTTTAGGGGCGCAGCCTCTGTGGCCCTGTGACCTGCCCCCTGGAAGCCTAGAAATG___GGACTGTTGACATTTAGGGATGTGGCCATAGAATTCTCTCTGGAGGAGTGGCAGTGCCTGGACACTGCACAGAAGAATTTATATAGGAATGTGATGTTAGAGAACTACAGAAACCTGGCCTTCCTGG___GTATTGCTGTCTCTAAGCCAGACCTCATCATCTGTCTGGAGAAAGAAAAAGAGC)CCTGGAATATGAAGCGAGATGAGATGGTGGATGAACCCCCAG|GAAGTGGAAAGAAGAGGTGCCTCATTAAAATAAGGCAGACCACAAAAGGGCAATGACTGGATACAAGAAGCAGAAGATCCAACTCGGAGGATAGGTAAATCCTGACGAGGATGGCGAAGAGTGATCTCAGAGTGACCGCTGTATCATCAAGGGCAAGGAGTTAAGAATGGAGCAGACAGA MGLLTFRDVAIEFSLEEWQCLDTAQKNLYRNVMLENYRNLAFLGIAVSKPDLIICLEKEKEPWNMKRDEMVDEPP|gsgkkrclikirqttkgq* 11BR060 ENSG00000171634.18 ENSG00000185792.10 +/+ -/- chr17:67909761 chr19:55738449 CDS/splice-site 5'UTR translocation 1 1 0 57 4 medium out-of-frame . DDT_domain(100%),PHD-finger(100%),WSTF__HB1__Itc1p__MBD9_motif_1(100%),Williams-Beuren_syndrome_DDT_(WSD)__D-TOX_E_motif(100%)|Leucine_Rich_repeat(100%),NACHT_domain(100%),PAAD/DAPIN/Pyrin_domain(100%) . . ENSG00000171634.18 ENSG00000185792.10 ENST00000306378.11 ENST00000332836.7 downstream downstream . ^(AGTCACCGAGCGAGAGGGAAGAAACAAGATGGCGGCTGAAGGCGATCCGGAGTGGGGCCCCAGCAATTCGGATTGAGCCTTCTCCCTCCACCCGCTTCCGTCGGCCGGGCCCCTCCCGCCCGGCCCCGCGGGCCTCCCCACCCGGCCCCGGCGCTCCCCACCGCCCCCCCTGCGCCCGCCCCTCCCCCTTCGCTTTCCTTCTCCCCCCGCCTCGGCTCCGACATGAGGGGCCGGCGGGGCAGGCCGCCCAAGCAGCCCGCGGCTCCCGCTGCGGAGCGCTGCGCCCCGGCCCCGCCGCCACCGCCGCCGCCGCCCACGTCCGGACCCATCGGGGGGCTCCGCTCGCGGCACCGCGGCAGCAGCCGGGGCAGGTGGGCCGCCGCCCAGGCTGAGGTGGCGCCCAAGACGCGGCTGAGCTCGCCCAGGGGGGGCAGCAGTAGCCGGAGGAAGCCGCCGCCGCCGCCGCCGGCCCCCCCCAGCACCAGCGCCCCGGGCCGGGGGGGGCGAGGAGGCGGGGGCGGCAGGACGGGGGGCGGGGGCGGCGGCGGCCACCTGGCCCGGACCACCGCGGCCCGGAGGGCCGTCAACAAAGTGGTGTACGATGACCACGAGAGCGAGGAGGAGGAGGAAGAGGAGGACATGGTCTCCGAGGAGGAGGAGGAGGAGGACGGCGACGCCGAGGAGACCCAGGATTCTGAGGACGACGAGGAGGATGAGATGGAAGAGGACGACGATGACTCCGATTATCCGGAGGAGATGGAAGACGACGACGACGACGCCAGTTACTGCACGGAAAGCAGCTTCAGGAGCCATAGTACCTACAGCAGCACTCCAG___GTAGGCGAAAACCAAGAGTACATCGGCCTCGTTCTCCTATATTGGAAGAAAAAGACATCCCGCCCCTTGAATTTCCCAAGTCCTCTGAGGATTTAATGGTGCCTAATGAGCATATAATGAATGTCATTGCCATTTACGAGGTACTGCGGAACTTTGGCACTGTTTTGAGATTATCTCCTTTTCGCTTTGAGGACTTTTGTGCAGCTCTGGTGAGCCAAGAGCAGTGCACACTCATGGCAGAGATGCATGTTGTGCTTTTGAAAGCAGTTCTGCGTGAAGAAGACACTTCCAATACTACCTTTGGACCTGCTGATCTGAAAGATAGCGTTAATTCCACACTGTATTTCATAGATGGGATGACGTGGCCAGAGGTGCTGCGGGTGTACTGTGAGAGTGATAAGGAGTACCATCACGTTCTTCCTTACCAAGAGGCAGAGGACTACCCATATGGACCAGTAGAGAACAAGATCAAAGTTCTACAGTTTCTAGTCGATCAGTTTCTTACAACAAATATTGCTCGAGAGGAATTGATGTCTGAAGGGGTGATACAGTATGATGACCATTGTAGGGTTTGTCACAAACTTGGGGATTTGCTTTGCTGTGAGACATGTTCAGCAGTATACCATTTGGAATGTGTGAAGCCACCTCTTGAGGAGGTGCCAGAGGACGAGTGGCAGTGTGAAGTCTGTGTAGCACACAAGGTGCCTGGTGTGACTGACTGTGTTGCTGAAATCCAAAAAAATAAACCATATATTCGACATGAACCTATTGGATATGATAGAAGTCGGAGGAAATACTGGTTCTTGAACCGAAGACTCATAAT___AGAAGAAGATACAGAAAATGAAAATGAAAAGAAAATTTGGTATTACAGCACAAAGGTCCAACTTGCAGAATTAATTGACTGTCTAGACAAAGATTATTGGGAAGCAGAACTCTGCAAAATTCTAGAAGAAATGCGTGAAGAAATCCACCGACACATGGACATAACTGAAGACCTGACCAATAAGGCTCGGGGCAGTAACAAATCCTTTCTGGCGGCAGCTAATG___AAGAAATTTTGGAATCCATAAGAGCCAAAAAGGGAGACATTGATAATGTTAAAAGCCCAGAAGAAACAGAAAAAGACAAGAATGAGACTGAGAATGACTCTAAAGATGCTGAGAAAAACAGAGAAGAATTTGAAGACCAGTCCCTTGAAAAAGACAGTGACGACAAAACACCAGATGATGACCCTGAGCAAGGAAAATCTGAGG___TAGGTGATTTCAAATCGGAGAAGTCCAACGGGGAGCTAAGTGAATCTCCTGGAGCTGGAAAAGGAGCATCTGGCTCAACTCGAATCATCACCAGATTGCGGAATCCAGATAGCAAACTTAGTCAGCTGAAGAGCCAGCAGGTGGCAGCCGCTGCACATGAAGCAAATAAATTATTTAAGGAGGGCAAAGAG___GTACTGGTAGTTAACTCTCAAGGAGAAATTTCACGGTTGAGCACCAAAAAGGAAGTGATCATGAAAGGAAATATCAACAATTATTTTAAATTGGGTCAAGAAGGGAAGTATCGCGTCTACCACAATCAATACTCCACCAATTCATTTGCTTTGAATAAGCACCAGCACAGAGAAGACCATGATAAGAGAAGGCATCTTGCACATAAGTTCTGTCTGACTCCAGCAGGAGAGTTCAAATGGAACGGTTCTGTCCATGGGTCCAAAGTTCTTACCATATCTACTCTGAGACTGACTATCACCCAATTAGAAAACAACATCCCTTCATCCTTTCTTCATCCCAACTGGGCATCACATAG___GGCAAATTGGATCAAGGCAGTTCAGATGTGTAGCAAACCCAGAGAATTTGCATTGGCTTTAGCCATTTTGGAGTGTGCAGTTAAACCAGTTGTGATGCTACCAATATGGCGAGAATCTTTAGGACATACCAG___GTTACACCGGATGACATCAATTGAAAGAGAAGAAAAGGAGAAAGTCAAAAAAAAAGAGAAGAAACAGGAAGAAGAAGAAACGATGCAGCAAGCGACATGGGTAAAATACACATTTCCAGTTAAGCATCAG___GTTTGGAAACAAAAAGGTGAAGAGTACAGAGTGACAGGATATGGTGGTTGGAGCTGGATTAGTAAAACTCATGTTTATAGGTTTGTTCCTAAATTGCCAGGCAATACTAATGTGAATTACAGAAAGTCGTTAGAAGGAA___CCAAAAATAATATGGATGAAAATATGGATGAGTCAGATAAAAGAAAATGTTCACGAAGTCCAAAAAAAATAAAAATAGAGCC)TGATTCTGAAAAAGATGAGGTAAAAGGTTCAGATGCTGCAAAAGGAGCAGACCAAAATGAAATGGATATCTCAAAGATTACTGAGAAGAAGGACCAAG|GTATCATTTATTCTTTATTTTTGAGGATCTTTCTTTTCCCTCTGGAGACACCTCAGTTCACAATCCTGGGGCGAT(ATGGCAGAATCTTTTTTTTCGGATTTTGGCTTGTTGTGGTATCTGAAGGAGCTCAGAAAGGAAGAGTTTTGGAAATTTAAGGAGCTCCTCAAACAACCTTTGGAGAAATTTGAACTCAAGCCAATCCCCTGGGCTGAGCTGAAGAAGGCCTCCAAAGAAGATGTAGCAAAGCTGCTGGACAAACATTACCCAGGAAAGCAGGCATGGGAGGTAACACTGAACCTGTTTCTACAGATCAATAGGAAAGATCTCTGGACAAAGGCTCAGGAAGAGATGAGAA___ATAAGCTAAACCCATACAGAAAGCATATGAAGGAAACATTTCAACTCATATGGGAGAAGGAAACCTGTCTTCACGTCCCTGAGCATTTCTACAAAGAAACCATGAAAAATGAGTATAAAGAATTGAATGACGCATATACTGCTGCGGCTAGACGACACACTGTGGTCCTGGAAGGTCCTGATGGAATTGGAAAAACAACCCTTTTAAGAAAAGTGATGTTGGACTGGGCAGAGGGAAACTTATGGAAGGACAGGTTCACATTTGTGTTTTTCCTCAATGTCTGTGAAATGAACGGTATCGCAGAGACCAGCTTACTGGAGCTCCTCTCTAGGGACTGGCCGGAGTCTTCAGAGAAGATCGAAGACATTTTTTCCCAGCCAGAGAGAATTCTGTTCATCATGGATGGCTTTGAGCAACTGAAGTTTAACTTACAACTTAAGGCTGACTTGAGCGATGATTGGAGGCAGCGGCAGCCAATGCCAATTATCCTGAGCAGTTTGTTGCAAAAAAAGATGCTTCCAGAATCCTCTCTCCTTATTGCATTAGGAAAACTGGCTATGCAAAAACACTATTTTATGTTGCGGCATCCAAAACTCATAAAGCTCTTAGGATTCAGTGAATCTGAAAAGAAGTCGTATTTCTCCTACTTCTTTGGTGAGAAGAGCAAAGCCCTGAAAGTCTTCAATTTTGTGAGAGATAATGGGCCGCTGTTTATCTTGTGCCATAATCCCTTTACGTGCTGGTTGGTCTGTACTTGTGTGAAACAGAGGCTAGAGAGGGGAGAAGACCTTGAAATAAACTCCCAAAACACCACCTATTTATATGCATCCTTTTTAACAACTGTATTCAAAGCAGGAAGTCAGAGTTTTCCACCTAAGGTGAACAGAGCCCGACTAAAAAGCCTGTGTGCTTTGGCTGCAGAGGGAATTTGGACATATACATTTGTATTTTCCCATGGGGATCTCCGGAGGAATGGGTTATCTGAGTCTGAGGGCGTGATGTGGGTGGGTATGAGACTCCTCCAAAGGAGAGGGGACTGTTTTGCCTTCATGCATCTGTGTATCCAAGAGTTTTGTGCCGCCATGTTTTATTTGCTCAAACGACCCAAAGACGATCCTAACCCGGCCATTGGAAGCATAACCCAGCTTGTAAGAGCAAGTGTGGTTCAGCCTCAAACCCTCTTGACCCAGGTGGGGATATTCATGTTTGGAATTTCAACAGAAGAAATCGTCAGCATGCTGGAGACCTCCTTTGGTTTTCCACTGTCAAAAGACCTAAAGCAGGAAATAACCCAATGCCTTGAAAGTTTAAGTCAATGTGAAGCTGATAGGGAAGCCATAGCTTTCCAGGAACTATTCATTGGTTTGTTTGAAACTCAGGAAAAAGAATTTGTAACCAAAGTGATGAATTTCTTTGAAGAAGTTTTCATTTATATTGGTAACATAGAACATTTGGTAATAGCTTCATTCTGCCTGAAGCATTGTCAACATTTAACGACACTTCGCATGTGTGTGGAGAATATCTTTCCAGATGACTCAGGATGCATCTCAGA___TTACAATGAGAAGCTCGTCTACTGGCGGGAGCTTTGCTCAATGTTCATTACCAACAAGAACTTCCAGATTTTAGACATGGAAAATACCAGCCTCGATGATCCCTCCCTGGCGATTCTTTGCAAAGCGCTGGCTCAGCCTGTTTGTAAACTCCGAAAACTCAT___ATTTACTTCTGTGTACTTTGGACATGATTCAGAATTATTTAAGGCAGTTCTTCACAACCCTCATCTGAAACTTCTGAGCCTGTACGGCACTAGCCTCTCCCAGTCTGACATCAGACACCTGTGTGAGACGCTGAAACATCCAATGTGCAAGATAGAAGAGCTGAT___ACTGGGAAAGTGTGACATCTCCAGTGAAGTTTGTGAAGACATCGCCTCCGTCCTGGCCTGCAACAGCAAGCTGAAACACCTCTCCTTGGTAGAAAATCCCTTGAGGGACGAAGGAATGACGTTGCTGTGTGAAGCCCTGAAGCACTCACACTGTGCCCTGGAGAGGCTGAT___GTTGATGTACTGCTGTCTCACCTCTGTCTCCTGTGACTCCATTTCCGAAGTCCTCTTGTGCAGTAAGTCCCTGTCCCTCCTCGATCTGGGCTCAAATGCCCTGGAAGATAATGGAGTGGCATCTCTGTGTGCAGCGCTGAAGCACCCAGGCTGCAGCATACGGGAGCTGTG___GTTGATGGGCTGTTTCCTTACTTCCGATTCCTGTAAGGACATTGCTGCTGTTCTTATTTGCAATGGGAAACTGAAGACCCTGAAACTTGGGCATAATGAAATAGGAGACACTGGTGTCAGACAGTTATGTGCAGCTTTGCAGCATCCTCACTGTAAATTAGAGTGTCTCGG___GCTGCAAACGTGTCCGATCACCCGTGCCTGCTGCGACGACATCGCCGCAGCACTCATCGCCTGCAAAACACTGAGGAGCCTGAACCTCGACTGGATTGCCTTGGATGCTGATGCAGTGGTGGTGCTGTGTGAGGCATTGAGCCACCCGGACTGTGCCCTGCAGATGCTGGG___GCTGCACAAATCTGGCTTTGATGAAGAAACTCAGAAGATCCTGATGTCTGTGGAAGAAAAAATTCCCCATCTGACCATTTCACATGGACCTTGGATTGACGAGGAATACAAGATCAGGGGTGTGCTCCTCTGATGGGGAACACCCTGAAGTAGTCGTCTCACAAAGGCTTTCCTTGGCCACAGTGGGACCTTCACCTGGCACCTCTATCCTGTAATTGCACATCATGGCAGCAGGGCTGTGATTTCAGAGGTACTCCCTAAGTGTTCTAGCAATATGATTATGGAGTGTGATTCAGTGTACATGCTGATTGTCTTTGCCTCGGTCCTATATCCCCTTGTCTTTAGAAATCCCATCCTGCCTTGTGATATTTAGAAGCACAAGTACGTTAAACAAGTGCTAAACGCTCTGGAAAGCATGGCTTTATTTTCTTAATGGATGTCTTGGTGTGTAGGAGCATGCATTTGTAGGCACCACAATCCGGATACTTCTGACACAGAAGTGATGCTAGAATGTGTCTATAGATTGTATTGCTAGCATCCAGACTTTCTAGTTTGTCCAGATTTCGATTTGATCAATTTTCTTGTCCAATAAAAAAGCATTTCCAAA)$ MRGRRGRPPKQPAAPAAERCAPAPPPPPPPPTSGPIGGLRSRHRGSSRGRWAAAQAEVAPKTRLSSPRGGSSSRRKPPPPPPAPPSTSAPGRGGRGGGGGRTGGGGGGGHLARTTAARRAVNKVVYDDHESEEEEEEEDMVSEEEEEEDGDAEETQDSEDDEEDEMEEDDDDSDYPEEMEDDDDDASYCTESSFRSHSTYSSTPGRRKPRVHRPRSPILEEKDIPPLEFPKSSEDLMVPNEHIMNVIAIYEVLRNFGTVLRLSPFRFEDFCAALVSQEQCTLMAEMHVVLLKAVLREEDTSNTTFGPADLKDSVNSTLYFIDGMTWPEVLRVYCESDKEYHHVLPYQEAEDYPYGPVENKIKVLQFLVDQFLTTNIAREELMSEGVIQYDDHCRVCHKLGDLLCCETCSAVYHLECVKPPLEEVPEDEWQCEVCVAHKVPGVTDCVAEIQKNKPYIRHEPIGYDRSRRKYWFLNRRLIIEEDTENENEKKIWYYSTKVQLAELIDCLDKDYWEAELCKILEEMREEIHRHMDITEDLTNKARGSNKSFLAAANEEILESIRAKKGDIDNVKSPEETEKDKNETENDSKDAEKNREEFEDQSLEKDSDDKTPDDDPEQGKSEVGDFKSEKSNGELSESPGAGKGASGSTRIITRLRNPDSKLSQLKSQQVAAAAHEANKLFKEGKEVLVVNSQGEISRLSTKKEVIMKGNINNYFKLGQEGKYRVYHNQYSTNSFALNKHQHREDHDKRRHLAHKFCLTPAGEFKWNGSVHGSKVLTISTLRLTITQLENNIPSSFLHPNWASHRANWIKAVQMCSKPREFALALAILECAVKPVVMLPIWRESLGHTRLHRMTSIEREEKEKVKKKEKKQEEEETMQQATWVKYTFPVKHQVWKQKGEEYRVTGYGGWSWISKTHVYRFVPKLPGNTNVNYRKSLEGTKNNMDENMDESDKRKCSRSPKKIKIEPDSEKDEVKGSDAAKGADQNEMDISKITEKKDQ|giiyslflriflfpletpqftilgrygrifffgfwlvvvsegaqkgrvlei* 11BR060 ENSG00000067715.14 ENSG00000258231.5 +/+ +/+ chr12:79047362 chr12:58544124 5'UTR/splice-site exon duplication 1 1 0 11 2 medium . . . . . ENSG00000067715.14 ENSG00000258231.5 ENST00000552744.5 ENST00000546977.5 downstream upstream . ^(ATCTTGGCTCCTCCCTGATTCTACCACCAAGAATAAAATAGTTGTTTGTCCCCTACAGTAGAACAAGTTTGCCCATTCATCCTTGTGATAGATATGCATGCAAAACCAAAATGAAATCAAATCCCCACAGATGGCTCGTAAGTCAAAAACACTGTTTAATTCTTTCACTGCATCCCTTTGGGAAGCCTGGCCCTTG___AAAAACAGAATAATTCTGAAAGAAAGAAAACAAAGAAAAACATACTC)CAGAATTCCTAATAGAACA|ATTGAGCCTCGGGATGGAATAACTGTGAGATGTGTTTGTTGCATTCACATATACAG(___GTTCTGTTGATGTGATGGAATACGTTTACTGATTTGTGTATGTTGAACCAGCCTTGCATCCCAGGGATGAAGCCAACTCGATCATG___GTTTTGGTATCAGGATGATGCTGGCCTCATAAAATGAGTCAGGGAAGAGTCCCTCTTTTTCTGATTGTTTGGAATAGTTTCAGAAGGAATGGTACCAGCTCCTCTTTGTACCTCTGGTGCAATTCTTGCAGCCCTATTTTACAGCTCACAGAAATTAATTAATTGAACAGTGCTTCTGATCTGGAAAGTGATGGACTCAGGCTTATAGCATAGGCAGCCTGACTCCACAGCTCAACTATTAAACACTACTCTCATCACCCCACAG___GGCCTGAATTTTCTGCTCCTGAATTCAAA___CATTAAAATGTGTGGTATATCAGTACTGGGATTTATGAGGACAATGTGGTTAATTTAAATGCCTTTTGGAGCAAATAGGACGTATCTTATTCCAATTTTTTGAAGATAGAGAAAGTGCGTGGTCCTGAACACAACAG___AGGTGGTTACAAGAAGAAATAAAATGTTGGCTGGCAGAAGCAGCAGGGAAGATTTCATATTGAAGACTAACTAGTTCTGAGACGTTTTGGATGTCTTCTTGCAAACAA___AATAGAATGCAACTGAAGAAATGGCTGGTGCAATTCAGCAAGGTAAAAGATTATCTTACCCCCAGCTGGTTAAAGGCAGAAGCTATGAATTTGTGCTATTGTCTGTGGGCTCCTTTCAG___TTCTCAAACAGTAGCTGCCACTTCTAGCTGGGAGAGAAATGAGAGCTCTGCTCATGGTGATCCAGTATCTCCAGAATCCATCACCACTGCTGACCTCCCACTCCATGTCTCCAAGTGCTCTGCTATACCTGCCACCAGCAGCTGCCACCTCCAGACTTTGGAAGGTTATAATAAAACCTCTGTTCTACGATCTGCCTTCTGCTTCAACATCCTCACTCCCCACAAACAATTCTAATAAACAGCAATTAATCTGAAAGTGTTTTTGCAATTTTAATGTATGAGATATGGTTTCTCTCAAAAGCTACACTGCTCTTGTGTCCTTACAAGGTATTTTCTTAGCAAGAATAATCTGTTTGCATGGGTGTTAATGACTAAATCCCTTTCTTGTAAAGTTATGCCCATCTGTCACACAAGAAGAATAGTACCCTTTAGAGAGCGCTGAAATGTAGGGAAATGTAGGGAAAATGAGCAGCTATTCAAAAAGGTAAAATGCTGCCACAGAGCCTGATAAGAGCAATTAATTAAACATTAAGTGTAGAATAGGGAATATATGGCATGGGATAAATTATAGTCACAATTCATGTTTCTTTTGTCTCCAGAAGTTCACACACAAAAACCCATGCCTTTACAAAACAATAAATTCAGCA)$ . 11BR060 ENSG00000236052.2 ENSG00000123297.20 +/- +/+ chr22:34039687 chr12:57786163 intron CDS/splice-site translocation/3'-3' 2 0 0 1 62 medium . . |Elongation_factor_TS(100%) . . ENSG00000236052.2 ENSG00000123297.20 . ENST00000548851.5 upstream upstream . CAAAGGAGCCACTAGAAATGAAGAGCTTGAAAATAGAAGAAAACAAGAAATATCATTGTCTCCTGAAAGGAAATCGGAACCAGGACACAGAGGATGGTTTATTTTGGAAAGGAGCGGGGACTACCTCTTCCTCAGAAGTG|GCAGAGATCTGGCTCCACAAGGAGGCCCAGAAGGAGGGCTGGAGCAAAGCTGCCAAGCTCCAAGGGAGGAAGACCAAAGAAGGCCTGATTGGGCTGTTGCAGGAAGGAAACACAACTGTATTAGTAGAG(___GTAAACTGTGAGACAGATTTTGTTTCTAGAAATTTAAAATTTCAACTGTTGGTCCAGCAAGTAGCCCTTGGAACCATGATGCATTGTCAGACCCTAAAGGATCAACCCTCTGCATACAGTAAA___GGTTTCTTGAATTCCTCTGAGCTTTCTGGACTTCCAGCTGGGCCTGACAGAGAAGGCTCACTCAAGGATCAGTTGGCTTTAGCAATTG___TGCTGAGGACTCATCACATTTGCATGATTTGAATCGTGAGATGAACTGGGCCATCCTGTTCAGGAGCATCCCATCATGGCTCGGTCTTTGCAAGGCTGAGCAATGATTTGAATATATCTTCCAGGTGAGATATTGATAGCACATTTGAGGATGTGCCTTTCACTACCCTGAAAACTCTACAGACTCACAAGACTCTTAAAGAAGACTC)$ . 11BR072 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 12 13 0 61 39 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream low_entropy(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCAC)GATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR072 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 10 5 1 20 24 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismappers(2) CTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTG(CATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR072 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 6 9 0 83 43 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACC)AATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAAGCCTCTATAGCTTGGCCTGTCTTCGTAGGcAACCCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR072 ENSG00000153066.12 ENSG00000260756.1(11004),ENSG00000166669.13(22299) -/- ./- chr16:11733982 chr16:10363756 CDS/splice-site intergenic deletion 6 7 1 129 50 high out-of-frame . Thioredoxin(100%)| . . ENSG00000153066.12 . ENST00000283033.9 . upstream downstream . ^(GGCGGACCCCGCGGCGGCGGCGCGGCTGACGTGGAGCGTCCGGGTTAGCGGGTGCGGCGAGCTGCGGGATTGGGGAGCAACGGGCCGGGCCGGGCCTTCGGGCCCGAGGCGGCGGCGGCGGTATAAAGCCGGCGACTGGGAGCATGTAATGTCGGAATGCGGAGGCCGCGGCGGCGGCAGCAGCAGCAGCGAGGACGCCGAGGACGAGGGAGGGGGCGGCGGCGGCCCCGCGGGCTCAGACTGCCTCAGCTCGAGCCCGACCCTGGCCACAGCGTCCTCGGCGGGCCGGCTCCGTCGCGGGCTGCGTGGCGCCTTCCTCATGGCGCGCCAGCGGCCGGAGCTGCTCTGCGGGGCCGTGGCGCTCGGCTGCGCGCTGCTCCTCGCCCTCAAGTTCACCTGCAG___TCGAGCAAAAGATGTGATAATACCAGCAAAGCCACCTGTCAGCTTTTTCTCCTTGAGGTCTCCAGTCCTTGACCTCTTCCAGGGGCAGCTGGATTATGCAGAGTACGTTCGAC)GGGATTCAGAGGTGGTACTGCTCTTCTTCTATGCCCCTTGGTGTGGACAGTCCATCGCTGCCAGGGCAGAAATTGAGCAAGCAGCAAGTCGGCTTTCAGATCAG___GTGTTGTTTGTGGCAATTAACTGTTGGTGGAACCAGGGGAAATGCAGAAAACAGAAACACTTCTTTTATTTTCCTGTAATATATCTGTATCATCGGAG|GCTCCTAGGCAGAAGGGACTTGCCTTGTCTCTGATGAGACTTTGGAGTCACACTTTTGGGCTAATgCTAGAATGAG___GAATGACTTATAATGACATGAAAAGGTGCTC...___CCTC...___ATGTGGCAGGCCCTGGGGAGATTGCAGTGAACAAGACTGACTGGGTCTCCACTTGCATGGGAGTCCAATTCTACTAGGAAGGAAGGACAAAACGG___GAGACTGATTTCTTCCC MSECGGRGGGSSSSEDAEDEGGGGGGPAGSDCLSSSPTLATASSAGRLRRGLRGAFLMARQRPELLCGAVALGCALLLALKFTCSRAKDVIIPAKPPVSFFSLRSPVLDLFQGQLDYAEYVRRDSEVVLLFFYAPWCGQSIAARAEIEQAASRLSDQVLFVAINCWWNQGKCRKQKHFFYFPVIYLYHRr|llgrrdlpcl* 11BR072 ENSG00000153066.12 ENSG00000260756.1(11004),ENSG00000166669.13(22299) -/- ./- chr16:11733982 chr16:10363756 CDS/splice-site intergenic deletion 0 4 1 129 50 high out-of-frame . Thioredoxin(100%)| . . ENSG00000153066.12 . ENST00000283033.9 . upstream downstream . ^(GGCGGACCCCGCGGCGGCGGCGCGGCTGACGTGGAGCGTCCGGGTTAGCGGGTGCGGCGAGCTGCGGGATTGGGGAGCAACGGGCCGGGCCGGGCCTTCGGGCCCGAGGCGGCGGCGGCGGTATAAAGCCGGCGACTGGGAGCATGTAATGTCGGAATGCGGAGGCCGCGGCGGCGGCAGCAGCAGCAGCGAGGACGCCGAGGACGAGGGAGGGGGCGGCGGCGGCCCCGCGGGCTCAGACTGCCTCAGCTCGAGCCCGACCCTGGCCACAGCGTCCTCGGCGGGCCGGCTCCGTCGCGGGCTGCGTGGCGCCTTCCTCATGGCGCGCCAGCGGCCGGAGCTGCTCTGCGGGGCCGTGGCGCTCGGCTGCGCGCTGCTCCTCGCCCTCAAGTTCACCTGCAG___TCGAGCAAAAGATGTGATAATACCAGCAAAGCCACCTGTCAGCTTTTTCTCCTTGAGGTCTCCAGTCCTTGACCTCTTCCAGGGGCAGCTGGATTATGCAGAGTACGTTCGACGGGATTCAGAGGTGGTACTGCTCTTCTTCTATGCCCCTTGGTGTGGACA)GTCCATCGCTGCCAGGGCAGAAATTGAGCAAGCAGCAAGTCGGCTTTCAGATCAG___GTGTTGTTTGTGGCAATTAACTGTTGGTGGAACCAGGGGAAATGCAGAAAACAGAAACACTTCTTTTATTTTCCTGTAATATATCTGTATCATCGGAG|GCTCCTAGGCAGAAGGGACTTGCCTTGTCTCTGATGAGACTTTGGAGTCACACTTTTGGGCTAATgCTAGAATGAG___GAATGACTTATAATGACATGAAAAGGTGCTCAACACAGTCCTCACAGTCATCAGAGAAATCCCATATAAAACCATGATATGATGACATTATACATCCTCTAGAAAGGC MSECGGRGGGSSSSEDAEDEGGGGGGPAGSDCLSSSPTLATASSAGRLRRGLRGAFLMARQRPELLCGAVALGCALLLALKFTCSRAKDVIIPAKPPVSFFSLRSPVLDLFQGQLDYAEYVRRDSEVVLLFFYAPWCGQSIAARAEIEQAASRLSDQVLFVAINCWWNQGKCRKQKHFFYFPVIYLYHRr|llgrrdlpcl* 11BR072 ENSG00000162600.12 ENSG00000233216.1(48669),ENSG00000162600.12(203047) -/- ./- chr1:58506060 chr1:58277672 CDS/splice-site intergenic deletion/read-through 2 1 0 143 6 medium out-of-frame . . . . ENSG00000162600.12 . ENST00000371226.8 . upstream downstream mismappers(1),mismatches(1) ^(GTCACCGCTTTCGCTTCTGCTTGA___GTAGTCAAGTGAAAAAATGAGCTTCATCTGTGGATTGCAGTCTGCTGCTAGAAACCATGTTTTCTTCCGATTTAATTCACTGTCTAACTGGAGAAAATGTAACACATTAGCATCCACCTCACGGGGCTGTCATCAAGTACAAGTTAACCATATAGTAAATAAGTATCAGGGACTGGGAGTAAATCAGTGTGACAGGTGGAGTTTTCTGCCTGGAAACTTTCATTTTTATAGTACTTTTAACAACAAAAGAACAGGAGGCCTCTCAAGTACCAAAAGTAAGGAAATTTGGAGGATTACCAGCAAATGTACTGTATGGAATGATGCTTTTTCAAGACAGCTGCTAATAAAAGAAGTTACAGCAGTCCCTAGTCTGTCAGTATTGCATCCTCTAAGCCCTGCTTCCATAAGAGCTATTAGGAATTTCCATACTTCTCCACGGTTTCAAGCTGCTCCGGTTCCTCTCTTGTTGATGATTCTTAAACCAGTACAGAAGTTATTTGCAATCATTGTAGGCAG___GGGCATAAGGAAATGGTGGCAGGCACTTCCTCCTAACAAGAAGGAAGTAGTTAAAGAAAATATAAGGAAGAATAAATGGAAGCTATTCCTTGGTTTGAGTAGTTTTGGATTGCTCTTTGTGGTGTTTTATTTTACTCACCTGGAAGTAAGTCCAATCACAGGAAGGAGCAAGCTACTATTATTGGGGAAAGAACAGTTCAGACTTTTATCGGAACTGGAATATGAAGCA___TGGATGGAAGAATTTAAAAATGATATGCTAACTGAGAAAGATGCCCGATACCTGGCTGTTAAAGAAGTGCTTTGTCATCTAATTGAATGCAATAAAGATGTTCCAGGGATCTCTCAGATCAATTGGGTTATTCATGTGGTTGATTCCCCAATTATTAATGCCTTCGTGCTTCCA___AATGGACAAATGTTTGTTTTCACTGGATTTTTAAATAGTGTAACCGATATTCATCAACTTTCTTTCCTTCTGGGCCATGAAATAGCACATGCAGTACTTGGGCATGCT___GCAGAAAAGGCTGGCATGGTTCATTTGTTGGATTTCCTAGGTATGATTTTCCTCACAATGATTTGGGCCATTTGTCCTCGAGATAGCTTGGCACTTTTGTGCCAGTGGATACAGTCTAAATTGCAGGAG___TATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCCGAAGCTGACAAAATTGGACTACTGCTTGCTGCAAAG___G)CTTGTGCAGACATAAGAGCCAGTTCAGTGTTTTGGCAGCAAATGGAGTTCGTTGATAGCCTGCATGGCCAACCCAAGATGCCAGAATGGTTATCTACACACCCTTCTCATGGCAATCGAGTTGAGTACTTGGATAGACTTATACCTCAG|ACCATGGTTTCCACCACAGCAGGGATCTGGCTGTATTCATGACTGAGTTCCCAGAGCAATGGCACCACCCTTAGGAGATTCTGACTGAG MSFICGLQSAARNHVFFRFNSLSNWRKCNTLASTSRGCHQVQVNHIVNKYQGLGVNQCDRWSFLPGNFHFYSTFNNKRTGGLSSTKSKEIWRITSKCTVWNDAFSRQLLIKEVTAVPSLSVLHPLSPASIRAIRNFHTSPRFQAAPVPLLLMILKPVQKLFAIIVGRGIRKWWQALPPNKKEVVKENIRKNKWKLFLGLSSFGLLFVVFYFTHLEVSPITGRSKLLLLGKEQFRLLSELEYEAWMEEFKNDMLTEKDARYLAVKEVLCHLIECNKDVPGISQINWVIHVVDSPIINAFVLPNGQMFVFTGFLNSVTDIHQLSFLLGHEIAHAVLGHAAEKAGMVHLLDFLGMIFLTMIWAICPRDSLALLCQWIQSKLQEYMFNRPYSRKLEAEADKIGLLLAAKACADIRASSVFWQQMEFVDSLHGQPKMPEWLSTHPSHGNRVEYLDRLIPQ|tmvsttagiwlys* 11BR072 ENSG00000008710.20 ENSG00000226232.8 -/- -/- chr16:2097728 chr16:69990682 CDS/splice-site intron duplication 0 2 0 32 44 medium out-of-frame . Lectin_C-type_domain(100%),Leucine_rich_repeat(100%),PKD_domain(100%),PLAT/LH2_domain(100%),REJ_domain(100%),WSC_domain(100%)| . . ENSG00000008710.20 ENSG00000226232.8 ENST00000262304.9 ENST00000532298.5 upstream downstream . ^(GCACTGCAGCGCCAGCGTCCGAGCGGGCGGCCGAGCTCCCGGAGCGGCCTGGCCCCGAGCCCCGAGCGGGCGTCGCTCAGCAGCAGGTCGCGGCCGCAGCCCCATCCAGCCCCGCGCCCGCCATGCCGTCCGCGGGCCCCGCCTGAGCTGCGGCCTCCGCGCGCGGGCGGGCCTGGGGACGGCGGGGCCATGCGCGCGCTGCCCTAACGATGCCGCCCGCCGCGCCCGCCCGCCTGGCGCTGGCCCTGGGCCTGGGCCTGTGGCTCGGGGCGCTGGCGGGGGGCCCCGGGCGCGGCTGCGGGCCCTGCGAGCCCCCCTGCCTCTGCGGCCCAGCGCCCGGCGCCGCCTGCCGCGTCAACTGCTCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCT___AGACGTCTCCCACAACCTGCTCCGGGCGCTGGACGTTGGGCTCCTGGCGAACCTCTCGGCGCTGGCAGAGCT___GGATATAAGCAACAACAAGATTTCTACGTTAGAAGAAGGAATATTTGCTAATTTATTTAATTTAAGTGAAAT___AAACCTGAGTGGGAACCCGTTTGAGTGTGACTGTGGCCTGGCGTGGCTGCCGCGATGGGCGGAGGAGCAGCAGGTGCGGGTGGTGCAGCCCGAGGCAGCCACGTGTGCTGGGCCTGGCTCCCTGGCTGGCCAGCCTCTGCTTGGCATCCCCTTGCTGGACAGTGGCTGTG___GTGAGGAGTATGTCGCCTGCCTCCCTGACAACAGCTCAGGCACCGTGGCAGCAGTGTCCTTTTCAGCTGCCCACGAAGGCCTGCTTCAGCCAGAGGCCTGCAGCGCCTTCTGCTTCTCCACCGGCCAGGGCCTCGCAGCCCTCTCGGAGCAGGGCTGGTGCCTGTGTGGGGCGGCCCAGCCCTCCAGTGCCTCCTTTGCCTGCCTGTCCCTCTGCTCCGGCCCCCCGCCACCTCCTGCCCCCACCTGTAGGGGCCCCACCCTCCTCCAGCACGTCTTCCCTGCCTCCCCAGGGGCCACCCTGGTGGGGCCCCACGGACCTCTGGCCTCTGGCCAGCTAGCAGCCTTCCACATCGCTGCCCCGCTCCCTGTCACTGCCACACGCTGGGACTTCGGAGACGGCTCCGCCGAGGTGGATGCCGCTGGGCCGGCTGCCTCGCATCGCTATGTGCTGCCTGGGCGCTATCACGTGACGGCCGTGCTGGCCCTGGGGGCCGGCTCAGCCCTGCTGGGGACAGACGTGCAGGTGGAAGCGGCACCTGCCGCCCTGGAGCTCGTGTGCCCGTCCTCGGTGCAGAGTGACGAGAGCCTCGACCTCAGCATCCAGAACCGCGGTGGTTCAGGCCTGGAGGCCGCCTACAGCATCGTGGCCCTGGGCGAGGAGCCGGCCCGAG___CGGTGCACCCGCTCTGCCCCTCGGACACGGAGATCTTCCCTGGCAACGGGCACTGCTACCGCCTGGTGGTGGAGAAGGCGGCCTGGCTGCAGGCGCAGGAGCAGTGTCAGGCCTGGGCCGGGGCCGCCCTGGCAATGGTGGACAGTCCCGCCGTGCAGCGCTTCCTGGTCTCCCGGGTCACCAG___GAGCCTAGACGTGTGGATCGGCTTCTCGACTGTGCAGGGGGTGGAGGTGGGCCCAGCGCCGCAGGGCGAGGCCTTCAGCCTGGAGAGCTGCCAGAACTGGCTGCCCGGGGAGCCACACCCAGCCACAGCCGAGCACTGCGTCCGGCTCGGGCCCACCGGGTGGTGTAACACCGACCTGTGCTCAGCGCCGCACAGCTACGTCTGCGAGCTGCAGCCCGGAG___GCCCAGTGCAGGATGCCGAGAACCTCCTCGTGGGAGCGCCCAGTGGGGACCTGCAGGGACCCCTGACGCCTCTGGCACAGCAGGACGGCCTCTCAGCCCCGCACGAGCCCGTGGAG___GTCATGGTATTCCCGGGCCTGCGTCTGAGCCGTGAAGCCTTCCTCACCACGGCCGAATTTGGGACCCAGGAGCTCCGGCGGCCCGCCCAGCTGCGGCTGCAGGTGTACCGGCTCCTCAGCACAGCAG___GGACCCCGGAGAACGGCAGCGAGCCTGAGAGCAGGTCCCCGGACAACAGGACCCAGCTGGCCCCCGCGTGCATGCCAGGGGGACGCTGGTGCCCTGGAGCCAACATCTGCTTGCCGCTGGACGCCTCCTGCCACCCCCAGGCCTGCGCCAATGGCTGCACGTCAGGGCCAGGGCTACCCGGGGCCCCCTATGCGCTATGGAGAGAGTTCCTCTTCTCCGTTCCCGCGGGGCCCCCCGCGCAGTACTCG___GTCACCCTCCACGGCCAGGATGTCCTCATGCTCCCTGGTGACCTCGTTGGCTTGCAGCACGACGCTGGCCCTGGCGCCCTCCTGCACTGCTCGCCGGCTCCCGGCCACCCTGGTCCCCGGGCCCCGTACCTCTCCGCCAACGCCTCGTCATGGCTGCCCCACTTGCCAGCCCAGCTGGAGGGCACTTGGGCCTGCCCTGCCTGTGCCCTGCGGCTGCTTGCAGCCACGGAACAGCTCACCGTGCTGCTGGGCTTGAGGCCCAACCCTGGACTGCGGCTGCCTGGGCGCTATGAGGTCCGGGCAGAGGTGGGCAATGGCGTGTCCAGGCACAACCTCTCCTGCAGCTTTGACGTGGTCTCCCCAGTGGCTGGGCTGCGGGTCATCTACCCTGCCCCCCGCGACGGCCGCCTCTACGTGCCCACCAACGGCTCAGCCTTGGTGCTCCAGGTGGACTCTGGTGCCAACGCCACGGCCACGGCTCGCTGGCCTGGGGGCAGTGTCAGCGCCCGCTTTGAGAATGTCTGCCCTGCCCTGGTGGCCACCTTCGTGCCCGGCTGCCCCTGGGAGACCAACGATACCCTGTTCTCAGTGGTAGCACTGCCGTGGCTCAGTGAGGGGGAGCACGTGGTGGACGTGGTGGTGGAAAACAGCGCCAGCCGGGCCAACCTCAGCCTGCGGGTGACGGCGGAGGAGCCCATCTGTGGCCTCCGCGCCACGCCCAGCCCCGAGGCCCGTGTACTGCAGGGAGTCCTAGTG___AGGTACAGCCCCGTGGTGGAGGCCGGCTCGGACATGGTCTTCCGGTGGACCATCAACGACAAGCAGTCCCTGACCTTCCAGAACGTGGTCTTCAATGTCATTTATCAGAGCGCGGCGGTCTTCAAGCTCTCA___CTGACGGCCTCCAACCACGTGAGCAACGTCACCGTGAACTACAACGTAACCGTGGAGCGGATGAACAGGATGCAGGGTCTGCAGGTCTCCACAGTGCCGGCCGTGCTGTCCCCCAATGCCACGCTAGCACTGACGGCGGGCGTGCTGGTGGACTCGGCCGTGGAGGTGGCCTTCCT___GTGGACCTTTGGGGATGGGGAGCAGGCCCTCCACCAGTTCCAGCCTCCGTACAACGAGTCCTTCCCGGTTCCAGACCCCTCGGTGGCCCAGGTGCTGGTGGAGCACAATGTCATGCACACCTACGCTGCCCCAG___GTGAGTACCTCCTGACCGTGCTGGCATCTAATGCCTTCGAGAACCTGACGCAGCAGGTGCCTGTGAGCGTGCGCGCCTCCCTGCCCTCCGTGGCTGTGGGTGTGAGTGACGGCGTCCTGGTGGCCGGCCGGCCCGTCACCTTCTACCCGCACCCGCTGCCCTCGCCTGGGGGTGTTCTTTACACGTGGGACTTCGGGGACGGCTCCCCTGTCCTGACCCAGAGCCAGCCGGCTGCCAACCACACCTATGCCTCGAGGGGCACCTACCACGTGCGCCTGGAGGTCAACAACACGGTGAGCGGTGCGGCGGCCCAGGCGGATGTGCGCGTCTTTGAGGAGCTCCGCGGACTCAGCGTGGACATGAGCCTGGCCGTGGAGCAGGGCGCCCCCGTGGTGGTCAGCGCCGCGGTGCAGACGGGCGACAACATCACGTGGACCTTCGACATGGGGGACGGCACCGTGCTGTCGGGCCCGGAGGCAACAGTGGAGCATGTGTACCTGCGGGCACAGAACTGCACAGTGACCGTGGGTGCGGCCAGCCCCGCCGGCCACCTGGCCCGGAGCCTGCACGTGCTGGTCTTCGTCCTGGAGGTGCTGCGCGTTGAACCCGCCGCCTGCATCCCCACGCAGCCTGACGCGCGGCTCACGGCCTACGTCACCGGGAACCCGGCCCACTACCTCTTCGACTGGACCTTCGGGGATGGCTCCTCCAACACGACCGTGCGGGGGTGCCCGACGGTGACACACAACTTCACGCGGAGCGGCACGTTCCCCCTGGCGCTGGTGCTGTCCAGCCGCGTGAACAGGGCGCATTACTTCACCAGCATCTGCGTGGAGCCAGAGGTGGGCAACGTCACCCTGCAGCCAGAGAGGCAGTTTGTGCAGCTCGGGGACGAGGCCTGGCTGGTGGCATGTGCCTGGCCCCCGTTCCCCTACCGCTACACCTGGGACTTTGGCACCGAGGAAGCCGCCCCCACCCGTGCCAGGGGCCCTGAGGTGACGTTCATCTACCGAGACCCAGGCTCCTATCTTGTGACAGTCACCGCGTCCAACAACATCTCTGCTGCCAATGACTCAGCCCTGGTGGAGGTGCAGGAGCCCGTGCTGGTCACCAGCATCAAGGTCAATGGCTCCCTTGGGCTGGAGCTGCAGCAGCCGTACCTGTTCTCTGCTGTGGGCCGTGGGCGCCCCGCCAGCTACCTGTGGGATCTGGGGGACGGTGGGTGGCTCGAGGGTCCGGAGGTCACCCACGCTTACAACAGCACAGGTGACTTCACCGTTAGGGTGGCCGGCTGGAATGAGGTGAGCCGCAGCGAGGCCTGGCTCAATGTGACGGTGAAGCGGCGCGTGCGGGGGCTCGTCGTCAATGCAAGCCGCACGGTGGTGCCCCTGAATGGGAGCGTGAGCTTCAGCACGTCGCTGGAGGCCGGCAGTGATGTGCGCTATTCCTGGGTGCTCTGTGACCGCTGCACGCCCATCCCTGGGGGTCCTACCATCTCTTACACCTTCCGCTCCGTGGGCACCTTCAATATCATCGTCACGGCTGAGAACGAGGTGGGCTCCGCCCAGGACAGCATCTTCGTCTATGTCCTGCAGCTCATAGAGGGGCTGCAGGTGGTGGGCGGTGGCCGCTACTTCCCCACCAACCACACGGTACAGCTGCAGGCCGTGGTTAGGGATGGCACCAACGTCTCCTACAGCTGGACTGCCTGGAGGGACAGGGGCCCGGCCCTGGCCGGCAGCGGCAAAGGCTTCTCGCTCACCGTGCTCGAGGCCGGCACCTACCATGTGCAGCTGCGGGCCACCAACATGCTGGGCAGCGCCTGGGCCGACTGCACCATGGACTTCGTGGAGCCTGTGGGGTGGCTGATGGTGGCCGCCTCCCCGAACCCAGCTGCCGTCAACACAAGCGTCACCCTCAGTGCCGAGCTGGCTGGTGGCAGTGGTGTCGTATACACTTGGTCCTTGGAGGAGGGGCTGAGCTGGGAGACCTCCGAGCCATTTACCACCCATAGCTTCCCCACACCCGGCCTGCACTTGGTCACCATGACGGCAGGGAACCCGCTGGGCTCAGCCAACGCCACCGTGGAAGTGGATGTGCAGGTGCCTGTGAGTGGCCTCAGCATCAGGGCCAGCGAGCCCGGAGGCAGCTTCGTGGCGGCCGGGTCCTCTGTGCCCTTTTGGGGGCAGCTGGCCACGGGCACCAATGTGAGCTGGTGCTGGGCTGTGCCCGGCGGCAGCAGCAAGCGTGGCCCTCATGTCACCATGGTCTTCCCGGATGCTGGCACCTTCTCCATCCGGCTCAATGCCTCCAACGCAGTCAGCTGGGTCTCAGCCACGTACAACCTCACGGCGGAGGAGCCCATCGTGGGCCTGGTGCTGTGGGCCAGCAGCAAGGTGGTGGCGCCCGGGCAGCTGGTCCATTTTCAGATCCTGCTGGCTGCCGGCTCAGCTGTCACCTTCCGCCTGCAGGTCGGCGGGGCCAACCCCGAGGTGCTCCCCGGGCCCCGTTTCTCCCACAGCTTCCCCCGCGTCGGAGACCACGTGGTGAGCGTGCGGGGCAAAAACCACGTGAGCTGGGCCCAGGCGCAGGTGCGCATCGTGGTGCTGGAGGCCGTGAGTGGGCTGCAGGTGCCCAACTGCTGCGAGCCTGGCATCGCCACGGGCACTGAGAGGAACTTCACAGCCCGCGTGCAGCGCGGCTCTCGGGTCGCCTACGCCTGGTACTTCTCGCTGCAGAAGGTCCAGGGCGACTCGCTGGTCATCCTGTCGGGCCGCGACGTCACCTACACGCCCGTGGCCGCGGGGCTGTTGGAGATCCAGGTGCGCGCCTTCAACGCCCTGGGCAGTGAGAACCGCACGCTGGTGCTGGAGGTTCAGGACGCCGTCCAGTATGTGGCCCTGCAGAGCGGCCCCTGCTTCACCAACCGCTCGGCGCAGTTTGAGGCCGCCACCAGCCCCAGCCCCCGGCGTGTGGCCTACCACTGGGACTTTGGGGATGGGTCGCCAGGGCAGGACACAGATGAGCCCAGGGCCGAGCACTCCTACCTGAGGCCTGGGGACTACCGCGTGCAGGTGAACGCCTCCAACCTGGTGAGCTTCTTCGTGGCGCAGGCCACGGTGACCGTCCAGGTGCTGGCCTGCCGGGAGCCGGAGGTGGACGTGGTCCTGCCCCTGCAGGTGCTGATGCGGCGATCACAGCGCAACTACTTGGAGGCCCACGTTGACCTGCGCGACTGCGTCACCTACCAGACTGAGTACCGCTGGGAGGTGTATCGCACCGCCAGCTGCCAGCGGCCGGGGCGCCCAGCGCGTGTGGCCCTGCCCGGCGTGGACGTGAGCCGGCCTCGGCTGGTGCTGCCGCGGCTGGCGCTGCCTGTGGGGCACTACTGCTTTGTGTTTGTCGTGTCATTTGGGGACACGCCACTGACACAGAGCATCCAGGCCAATGTGACGGTGGCCCCCGAGCGCCTGGTGCCCATCATTGAGGGTGGCTCATACCGCGTGTGGTCAGACACACGGGACCTGGTGCTGGATGGGAGCGAGTCCTACGACCCCAACCTGGAGGACGGCGACCAGACGCCGCTCAGTTTCCACTGGGCCTGTGTGGCTTCGACACAG___AGGGAGGCTGGCGGGTGTGCGCTGAACTTTGGGCCCCGCGGGAGCAGCACGGTCACCATTCCACGGGAGCGGCTGGCGGCTGGCGTGGAGTACACCTTCAGCCTGACCGTGTGGAAGGCCGGCCGCAAGGAGGAGGCCACCAACCAGACG___GTGCTGATCCGGAGTGGCCGGGTGCCCATTGTGTCCTTGGAGTGTGTGTCCTGCAAGGCACAGGCCGTGTACGAAGTGAGCCGCAGCTCCTACGTGTACTTGGAGGGCCGCTGCCTCAATTGCAGCAGCGGCTCCAAGCGAGGG___CGGTGGGCTGCACGTACGTTCAGCAACAAGACGCTGGTGCTGGATGAGACCACCACATCCACGGGCAGTGCAGGCATGCGACTGGTGCTGCGGCGGGGCGTGCTGCGGGACGGCGAGGGATACACCTTCACGCTCACGGTGCTGGGCCGCTCTGGCGAGGAGGAGGGCTGCGCCTCCATCCGCCTGTCCCCCAACCGCCCGCCGCTGGGGGGCTCTTGCCGCCTCTTCCCACTGGGCGCTGTGCACGCCCTCACCACCAAGGTGCACTTCGAATGCACGG___GCTGGCATGACGCGGAGGATGCTGGCGCCCCGCTGGTGTACGCCCTGCTGCTGCGGCGCTGTCGCCAGGGCCACTGCGAGGAGTTCTGTGTCTACAAGGGCAGCCTCTCCAGCTACGGAGCCGTGCTGCCCCCGGGTTTCAGGCCACACTTCGAGGTGGGCCTGGCCGTGGTGGTGCAGGACCAGCTGGGAGCCGCTGTGGTCGCCCTCAACAG___GTCTTTGGCCATCACCCTCCCAGAGCCCAACGGCAGCGCAACGGGGCTCACAGTCTGGCTGCACGGGCTCACCGCTAGTGTGCTCCCAGGGCTGCTGCGGCAGGCCGATCCCCAGCACGTCATCGAGTACTCGTTGGCCCTGGTCACCGTGCTGAACGAG___TACGAGCGGGCCCTGGACGTGGCGGCAGAGCCCAAGCACGAGCGGCAGCACCGAGCCCAGATACGCAAGAACATCACGGAGACTCTGGTGTCCCTGAGGGTCCACACTGTGGATGACATCCAGCAGATCGCTGCTGCGCTGGCCCAGTGCATG___GGGCCCAGCAGGGAGCTCGTATGCCGCTCGTGCCTGAAGCAGACGCTGCACAAGCTGGAGGCCATGATGCTCATCCTGCAGGCAGAGACCACCGCGGGCACCGTGACGCCCACCGCCATCGGAGACAGCATCCTCAACATCACAG___GAGACCTCATCCACCTGGCCAGCTCGGACGTGCGGGCACCACAGCCCTCAGAGCTGGGAGCCGAGTCACCATCTCGGATGGTGGCGTCCCAGGCCTACAACCTGACCTCTGCCCTCATGCGCATCCTCATGCGCTCCCGCGTGCTCAACGAGGAGCCCCTGACGCTGGCGGGCGAGGAGATCGTGGCCCAGGGCAAGCGCTCGGACCCGCGGAGCCTGCTGTGCTATGGCGGCGCCCCAGGGCCTGGCTGCCACTTCTCCATCCCCGAGGCTTTCAGCGGGGCCCTGGCCAACCTCAGTGACGTGGTGCAGCTCATCTTTCTGGTGGACTCCAATCCCTTTCCCTTTGGCTATATCAGCAACTACACCGTCTCCACCAAGGTGGCCTCGATGGCATTCCAGACACAGGCCGGCGCCCAGATCCCCATCGAGCGGCTGGCCTCAGAGCGCGCCATCACCGTGAAGGTGCCCAACAACTCGGACTGGGCTGCCCGGGGCCACCGCAGCTCCGCCAACTCCGCCAACTCCGTTGTGGTCCAGCCCCAGGCCTCCGTCGGTGCTGTGGTCACCCTGGACAGCAGCAACCCTGCGGCCGGGCTGCATCTGCAGCTCAACTATACGCTGCTGGACG___GCCACTACCTGTCTGAGGAACCTGAGCCCTACCTGGCAGTCTACCTACACTCGGAGCCCCGGCCCAATGAGCACAACTGCTCGGCTAGCAGGAGGATCCGCCCAGAGTCACTCCAGGGTGCTGACCACCGGCCCTACACCTTCTTCATTTCCCCGGG___GAGCAGAGACCCAGCGGGGAGTTACCATCTGAACCTCTCCAGCCACTTCCGCTGGTCGGCGCTGCAGGTGTCCGTGGGCCTGTACACGTCCCTGTGCCAGTACTTCAGCGAGGAGGACATGGTGTGGCGGACAGAGGGGCTGCTGCCCCTGGAGGAGACCTCGCCCCGCCAGGCCGTCTGCCTCACCCGCCACCTCACCGCCTTCGGCGCCAGCCTCTTCGTGCCCCCAAGCCATGTCCGCTTTGTGTTTCCT___GAGCCGACAGCGGATGTAAACTACATCGTCATGCTGACATGTGCTGTGTGCCTGGTGACCTACATGGTCATGGCCGCCATCCTGCACAAGCTGGACCAGTTGGATGCCAGCCGGGGCCGCGCCATCCCTTTCTGTGGGCAGCGGGGCCGCTTCAAGTACGAGATCCTCGTCAAGACAGGCTGGGGCCGGGGCTCAG___GTACCACGGCCCACGTGGGCATCATGCTGTATGGGGTGGACAGCCGGAGCGGCCACCGGCACCTGGACGGCGACAGAGCCTTCCACCGCAACAGCCTGGACATCTTCCGGATCGCCACCCCGCACAGCCTGGGTAGCGTGTGGAAGATCCGAGTGTGGCACGACAACAAAG___GGCTCAGCCCTGCCTGGTTCCTGCAGCACGTCATCGTCAGGGACCTGCAGACGGCACGCAGCGCCTTCTTCCTGGTCAATGACTGGCTTTCGGTGGAGACGGAGGCCAACGGGGGCCTGGTGGAGAAGGAGGTGCTGGCCGCGA___GCGACGCAGCCCTTTTGCGCTTCCGGCGCCTGCTGGTGGCTGAGCTGCAGCGTGGCTTCTTTGACAAGCACATCTGGCTCTCCATATGGGACCGGCCGCCTCGTAGCCGTTTCACTCGCATCCAGAGGGCCACCTGCTGCGTTCTCCTCATCTGCCTCTTCCTGGGCGCCAACGCCGTGTGGTACGGGGCTGTTGGCGACTCTGCCTACAG___CACGGGGCATGTGTCCAGGCTGAGCCCGCTGAGCGTCGACACAGTCGCTGTTGGCCTGGTGTCCAGCGTGGTTGTCTATCCCGTCTACCTGGCCATCCTTTTTCTCTTCCGGATGTCCCGGAGCAAG___GTGGCTGGGAGCCCGAGCCCCACACCTGCCGGGCAGCAGGTGCTGGACATCGACAGCTGCCTGGACTCGTCCGTGCTGGACAGCTCCTTCCTCACGTTCTCAGGCCTCCACGCTGAG___CAGGCCTTTGTTGGACAGATGAAGAGTG)ACTTGTTTCTGGATGATTCTAAGAG|TGACCTTGAGGAACCCTGGGAGCTCAGGAAGGAAGGAGCGCCCAGAAGCAGGGACAGGGAGCTGGTTGGGGAGGACCAGAAATCAG___GTTATCAATACTCTGGCTGACCATCGTCATC(GTGAGACTGACTTTGGTGGAAGTCCTTGGATAATTATCATTATTGTGTTTCTGGGACGTTACAAATTTACCATTCTCTTCTGCACAATTTACCTTTGT___GTGCCTTTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATAGATCCAGGGATGTACAGCAGAGAGCTAGGAGGTCCAACCGCCGTAGACAGGAAG___GGCTGAGGTCCATTTGTATGCACACAAAGAAAAGAGTTTCTTCCTTTCCAGGAATTAAAATTGGCCTGGAAGACATCTGTACTTTATGGAAACAGGCGGAAACAAAAGTTCAAGCTAAAATCCGTAAGATGAAGGTCACAAAGAAAGTCAACCATCATTACAAAATCAATGGAAAGAGGAAGACCGCCAAAGAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGTGGCGGGCAGAGGACTACCACAAATGCAAA___ATCACCCCCTCTGCAAGAAAGCCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCGCCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAATGTCTTCTTATTCCCCTTCCACCCTCTCCTCTTCCACCCTCCGTGGATGATAATCTCAAGACTCCTCCCTTAGCTACTCAGGAGGCCGAGGCAGAAAAATCACTGAAACCCAAGAGGCAGAGGTTGAGTAAGCTGAGAACAGGTCATTGCACTCAAGCCTGGGCAATAAGAAGAAATCTGTGA)$ MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKs|dleepwelrkegaprsrdrelvgedqksgyqysg* 11BR072 ENSG00000008710.20 ENSG00000196696.13 -/- -/- chr16:2097728 chr16:69990682 CDS/splice-site exon/splice-site duplication 0 2 0 32 44 medium out-of-frame . Lectin_C-type_domain(100%),Leucine_rich_repeat(100%),PKD_domain(100%),PLAT/LH2_domain(100%),REJ_domain(100%),WSC_domain(100%)| . . ENSG00000008710.20 ENSG00000196696.13 ENST00000262304.9 ENST00000530079.5 upstream downstream . ^(GCACTGCAGCGCCAGCGTCCGAGCGGGCGGCCGAGCTCCCGGAGCGGCCTGGCCCCGAGCCCCGAGCGGGCGTCGCTCAGCAGCAGGTCGCGGCCGCAGCCCCATCCAGCCCCGCGCCCGCCATGCCGTCCGCGGGCCCCGCCTGAGCTGCGGCCTCCGCGCGCGGGCGGGCCTGGGGACGGCGGGGCCATGCGCGCGCTGCCCTAACGATGCCGCCCGCCGCGCCCGCCCGCCTGGCGCTGGCCCTGGGCCTGGGCCTGTGGCTCGGGGCGCTGGCGGGGGGCCCCGGGCGCGGCTGCGGGCCCTGCGAGCCCCCCTGCCTCTGCGGCCCAGCGCCCGGCGCCGCCTGCCGCGTCAACTGCTCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCT___AGACGTCTCCCACAACCTGCTCCGGGCGCTGGACGTTGGGCTCCTGGCGAACCTCTCGGCGCTGGCAGAGCT___GGATATAAGCAACAACAAGATTTCTACGTTAGAAGAAGGAATATTTGCTAATTTATTTAATTTAAGTGAAAT___AAACCTGAGTGGGAACCCGTTTGAGTGTGACTGTGGCCTGGCGTGGCTGCCGCGATGGGCGGAGGAGCAGCAGGTGCGGGTGGTGCAGCCCGAGGCAGCCACGTGTGCTGGGCCTGGCTCCCTGGCTGGCCAGCCTCTGCTTGGCATCCCCTTGCTGGACAGTGGCTGTG___GTGAGGAGTATGTCGCCTGCCTCCCTGACAACAGCTCAGGCACCGTGGCAGCAGTGTCCTTTTCAGCTGCCCACGAAGGCCTGCTTCAGCCAGAGGCCTGCAGCGCCTTCTGCTTCTCCACCGGCCAGGGCCTCGCAGCCCTCTCGGAGCAGGGCTGGTGCCTGTGTGGGGCGGCCCAGCCCTCCAGTGCCTCCTTTGCCTGCCTGTCCCTCTGCTCCGGCCCCCCGCCACCTCCTGCCCCCACCTGTAGGGGCCCCACCCTCCTCCAGCACGTCTTCCCTGCCTCCCCAGGGGCCACCCTGGTGGGGCCCCACGGACCTCTGGCCTCTGGCCAGCTAGCAGCCTTCCACATCGCTGCCCCGCTCCCTGTCACTGCCACACGCTGGGACTTCGGAGACGGCTCCGCCGAGGTGGATGCCGCTGGGCCGGCTGCCTCGCATCGCTATGTGCTGCCTGGGCGCTATCACGTGACGGCCGTGCTGGCCCTGGGGGCCGGCTCAGCCCTGCTGGGGACAGACGTGCAGGTGGAAGCGGCACCTGCCGCCCTGGAGCTCGTGTGCCCGTCCTCGGTGCAGAGTGACGAGAGCCTCGACCTCAGCATCCAGAACCGCGGTGGTTCAGGCCTGGAGGCCGCCTACAGCATCGTGGCCCTGGGCGAGGAGCCGGCCCGAG___CGGTGCACCCGCTCTGCCCCTCGGACACGGAGATCTTCCCTGGCAACGGGCACTGCTACCGCCTGGTGGTGGAGAAGGCGGCCTGGCTGCAGGCGCAGGAGCAGTGTCAGGCCTGGGCCGGGGCCGCCCTGGCAATGGTGGACAGTCCCGCCGTGCAGCGCTTCCTGGTCTCCCGGGTCACCAG___GAGCCTAGACGTGTGGATCGGCTTCTCGACTGTGCAGGGGGTGGAGGTGGGCCCAGCGCCGCAGGGCGAGGCCTTCAGCCTGGAGAGCTGCCAGAACTGGCTGCCCGGGGAGCCACACCCAGCCACAGCCGAGCACTGCGTCCGGCTCGGGCCCACCGGGTGGTGTAACACCGACCTGTGCTCAGCGCCGCACAGCTACGTCTGCGAGCTGCAGCCCGGAG___GCCCAGTGCAGGATGCCGAGAACCTCCTCGTGGGAGCGCCCAGTGGGGACCTGCAGGGACCCCTGACGCCTCTGGCACAGCAGGACGGCCTCTCAGCCCCGCACGAGCCCGTGGAG___GTCATGGTATTCCCGGGCCTGCGTCTGAGCCGTGAAGCCTTCCTCACCACGGCCGAATTTGGGACCCAGGAGCTCCGGCGGCCCGCCCAGCTGCGGCTGCAGGTGTACCGGCTCCTCAGCACAGCAG___GGACCCCGGAGAACGGCAGCGAGCCTGAGAGCAGGTCCCCGGACAACAGGACCCAGCTGGCCCCCGCGTGCATGCCAGGGGGACGCTGGTGCCCTGGAGCCAACATCTGCTTGCCGCTGGACGCCTCCTGCCACCCCCAGGCCTGCGCCAATGGCTGCACGTCAGGGCCAGGGCTACCCGGGGCCCCCTATGCGCTATGGAGAGAGTTCCTCTTCTCCGTTCCCGCGGGGCCCCCCGCGCAGTACTCG___GTCACCCTCCACGGCCAGGATGTCCTCATGCTCCCTGGTGACCTCGTTGGCTTGCAGCACGACGCTGGCCCTGGCGCCCTCCTGCACTGCTCGCCGGCTCCCGGCCACCCTGGTCCCCGGGCCCCGTACCTCTCCGCCAACGCCTCGTCATGGCTGCCCCACTTGCCAGCCCAGCTGGAGGGCACTTGGGCCTGCCCTGCCTGTGCCCTGCGGCTGCTTGCAGCCACGGAACAGCTCACCGTGCTGCTGGGCTTGAGGCCCAACCCTGGACTGCGGCTGCCTGGGCGCTATGAGGTCCGGGCAGAGGTGGGCAATGGCGTGTCCAGGCACAACCTCTCCTGCAGCTTTGACGTGGTCTCCCCAGTGGCTGGGCTGCGGGTCATCTACCCTGCCCCCCGCGACGGCCGCCTCTACGTGCCCACCAACGGCTCAGCCTTGGTGCTCCAGGTGGACTCTGGTGCCAACGCCACGGCCACGGCTCGCTGGCCTGGGGGCAGTGTCAGCGCCCGCTTTGAGAATGTCTGCCCTGCCCTGGTGGCCACCTTCGTGCCCGGCTGCCCCTGGGAGACCAACGATACCCTGTTCTCAGTGGTAGCACTGCCGTGGCTCAGTGAGGGGGAGCACGTGGTGGACGTGGTGGTGGAAAACAGCGCCAGCCGGGCCAACCTCAGCCTGCGGGTGACGGCGGAGGAGCCCATCTGTGGCCTCCGCGCCACGCCCAGCCCCGAGGCCCGTGTACTGCAGGGAGTCCTAGTG___AGGTACAGCCCCGTGGTGGAGGCCGGCTCGGACATGGTCTTCCGGTGGACCATCAACGACAAGCAGTCCCTGACCTTCCAGAACGTGGTCTTCAATGTCATTTATCAGAGCGCGGCGGTCTTCAAGCTCTCA___CTGACGGCCTCCAACCACGTGAGCAACGTCACCGTGAACTACAACGTAACCGTGGAGCGGATGAACAGGATGCAGGGTCTGCAGGTCTCCACAGTGCCGGCCGTGCTGTCCCCCAATGCCACGCTAGCACTGACGGCGGGCGTGCTGGTGGACTCGGCCGTGGAGGTGGCCTTCCT___GTGGACCTTTGGGGATGGGGAGCAGGCCCTCCACCAGTTCCAGCCTCCGTACAACGAGTCCTTCCCGGTTCCAGACCCCTCGGTGGCCCAGGTGCTGGTGGAGCACAATGTCATGCACACCTACGCTGCCCCAG___GTGAGTACCTCCTGACCGTGCTGGCATCTAATGCCTTCGAGAACCTGACGCAGCAGGTGCCTGTGAGCGTGCGCGCCTCCCTGCCCTCCGTGGCTGTGGGTGTGAGTGACGGCGTCCTGGTGGCCGGCCGGCCCGTCACCTTCTACCCGCACCCGCTGCCCTCGCCTGGGGGTGTTCTTTACACGTGGGACTTCGGGGACGGCTCCCCTGTCCTGACCCAGAGCCAGCCGGCTGCCAACCACACCTATGCCTCGAGGGGCACCTACCACGTGCGCCTGGAGGTCAACAACACGGTGAGCGGTGCGGCGGCCCAGGCGGATGTGCGCGTCTTTGAGGAGCTCCGCGGACTCAGCGTGGACATGAGCCTGGCCGTGGAGCAGGGCGCCCCCGTGGTGGTCAGCGCCGCGGTGCAGACGGGCGACAACATCACGTGGACCTTCGACATGGGGGACGGCACCGTGCTGTCGGGCCCGGAGGCAACAGTGGAGCATGTGTACCTGCGGGCACAGAACTGCACAGTGACCGTGGGTGCGGCCAGCCCCGCCGGCCACCTGGCCCGGAGCCTGCACGTGCTGGTCTTCGTCCTGGAGGTGCTGCGCGTTGAACCCGCCGCCTGCATCCCCACGCAGCCTGACGCGCGGCTCACGGCCTACGTCACCGGGAACCCGGCCCACTACCTCTTCGACTGGACCTTCGGGGATGGCTCCTCCAACACGACCGTGCGGGGGTGCCCGACGGTGACACACAACTTCACGCGGAGCGGCACGTTCCCCCTGGCGCTGGTGCTGTCCAGCCGCGTGAACAGGGCGCATTACTTCACCAGCATCTGCGTGGAGCCAGAGGTGGGCAACGTCACCCTGCAGCCAGAGAGGCAGTTTGTGCAGCTCGGGGACGAGGCCTGGCTGGTGGCATGTGCCTGGCCCCCGTTCCCCTACCGCTACACCTGGGACTTTGGCACCGAGGAAGCCGCCCCCACCCGTGCCAGGGGCCCTGAGGTGACGTTCATCTACCGAGACCCAGGCTCCTATCTTGTGACAGTCACCGCGTCCAACAACATCTCTGCTGCCAATGACTCAGCCCTGGTGGAGGTGCAGGAGCCCGTGCTGGTCACCAGCATCAAGGTCAATGGCTCCCTTGGGCTGGAGCTGCAGCAGCCGTACCTGTTCTCTGCTGTGGGCCGTGGGCGCCCCGCCAGCTACCTGTGGGATCTGGGGGACGGTGGGTGGCTCGAGGGTCCGGAGGTCACCCACGCTTACAACAGCACAGGTGACTTCACCGTTAGGGTGGCCGGCTGGAATGAGGTGAGCCGCAGCGAGGCCTGGCTCAATGTGACGGTGAAGCGGCGCGTGCGGGGGCTCGTCGTCAATGCAAGCCGCACGGTGGTGCCCCTGAATGGGAGCGTGAGCTTCAGCACGTCGCTGGAGGCCGGCAGTGATGTGCGCTATTCCTGGGTGCTCTGTGACCGCTGCACGCCCATCCCTGGGGGTCCTACCATCTCTTACACCTTCCGCTCCGTGGGCACCTTCAATATCATCGTCACGGCTGAGAACGAGGTGGGCTCCGCCCAGGACAGCATCTTCGTCTATGTCCTGCAGCTCATAGAGGGGCTGCAGGTGGTGGGCGGTGGCCGCTACTTCCCCACCAACCACACGGTACAGCTGCAGGCCGTGGTTAGGGATGGCACCAACGTCTCCTACAGCTGGACTGCCTGGAGGGACAGGGGCCCGGCCCTGGCCGGCAGCGGCAAAGGCTTCTCGCTCACCGTGCTCGAGGCCGGCACCTACCATGTGCAGCTGCGGGCCACCAACATGCTGGGCAGCGCCTGGGCCGACTGCACCATGGACTTCGTGGAGCCTGTGGGGTGGCTGATGGTGGCCGCCTCCCCGAACCCAGCTGCCGTCAACACAAGCGTCACCCTCAGTGCCGAGCTGGCTGGTGGCAGTGGTGTCGTATACACTTGGTCCTTGGAGGAGGGGCTGAGCTGGGAGACCTCCGAGCCATTTACCACCCATAGCTTCCCCACACCCGGCCTGCACTTGGTCACCATGACGGCAGGGAACCCGCTGGGCTCAGCCAACGCCACCGTGGAAGTGGATGTGCAGGTGCCTGTGAGTGGCCTCAGCATCAGGGCCAGCGAGCCCGGAGGCAGCTTCGTGGCGGCCGGGTCCTCTGTGCCCTTTTGGGGGCAGCTGGCCACGGGCACCAATGTGAGCTGGTGCTGGGCTGTGCCCGGCGGCAGCAGCAAGCGTGGCCCTCATGTCACCATGGTCTTCCCGGATGCTGGCACCTTCTCCATCCGGCTCAATGCCTCCAACGCAGTCAGCTGGGTCTCAGCCACGTACAACCTCACGGCGGAGGAGCCCATCGTGGGCCTGGTGCTGTGGGCCAGCAGCAAGGTGGTGGCGCCCGGGCAGCTGGTCCATTTTCAGATCCTGCTGGCTGCCGGCTCAGCTGTCACCTTCCGCCTGCAGGTCGGCGGGGCCAACCCCGAGGTGCTCCCCGGGCCCCGTTTCTCCCACAGCTTCCCCCGCGTCGGAGACCACGTGGTGAGCGTGCGGGGCAAAAACCACGTGAGCTGGGCCCAGGCGCAGGTGCGCATCGTGGTGCTGGAGGCCGTGAGTGGGCTGCAGGTGCCCAACTGCTGCGAGCCTGGCATCGCCACGGGCACTGAGAGGAACTTCACAGCCCGCGTGCAGCGCGGCTCTCGGGTCGCCTACGCCTGGTACTTCTCGCTGCAGAAGGTCCAGGGCGACTCGCTGGTCATCCTGTCGGGCCGCGACGTCACCTACACGCCCGTGGCCGCGGGGCTGTTGGAGATCCAGGTGCGCGCCTTCAACGCCCTGGGCAGTGAGAACCGCACGCTGGTGCTGGAGGTTCAGGACGCCGTCCAGTATGTGGCCCTGCAGAGCGGCCCCTGCTTCACCAACCGCTCGGCGCAGTTTGAGGCCGCCACCAGCCCCAGCCCCCGGCGTGTGGCCTACCACTGGGACTTTGGGGATGGGTCGCCAGGGCAGGACACAGATGAGCCCAGGGCCGAGCACTCCTACCTGAGGCCTGGGGACTACCGCGTGCAGGTGAACGCCTCCAACCTGGTGAGCTTCTTCGTGGCGCAGGCCACGGTGACCGTCCAGGTGCTGGCCTGCCGGGAGCCGGAGGTGGACGTGGTCCTGCCCCTGCAGGTGCTGATGCGGCGATCACAGCGCAACTACTTGGAGGCCCACGTTGACCTGCGCGACTGCGTCACCTACCAGACTGAGTACCGCTGGGAGGTGTATCGCACCGCCAGCTGCCAGCGGCCGGGGCGCCCAGCGCGTGTGGCCCTGCCCGGCGTGGACGTGAGCCGGCCTCGGCTGGTGCTGCCGCGGCTGGCGCTGCCTGTGGGGCACTACTGCTTTGTGTTTGTCGTGTCATTTGGGGACACGCCACTGACACAGAGCATCCAGGCCAATGTGACGGTGGCCCCCGAGCGCCTGGTGCCCATCATTGAGGGTGGCTCATACCGCGTGTGGTCAGACACACGGGACCTGGTGCTGGATGGGAGCGAGTCCTACGACCCCAACCTGGAGGACGGCGACCAGACGCCGCTCAGTTTCCACTGGGCCTGTGTGGCTTCGACACAG___AGGGAGGCTGGCGGGTGTGCGCTGAACTTTGGGCCCCGCGGGAGCAGCACGGTCACCATTCCACGGGAGCGGCTGGCGGCTGGCGTGGAGTACACCTTCAGCCTGACCGTGTGGAAGGCCGGCCGCAAGGAGGAGGCCACCAACCAGACG___GTGCTGATCCGGAGTGGCCGGGTGCCCATTGTGTCCTTGGAGTGTGTGTCCTGCAAGGCACAGGCCGTGTACGAAGTGAGCCGCAGCTCCTACGTGTACTTGGAGGGCCGCTGCCTCAATTGCAGCAGCGGCTCCAAGCGAGGG___CGGTGGGCTGCACGTACGTTCAGCAACAAGACGCTGGTGCTGGATGAGACCACCACATCCACGGGCAGTGCAGGCATGCGACTGGTGCTGCGGCGGGGCGTGCTGCGGGACGGCGAGGGATACACCTTCACGCTCACGGTGCTGGGCCGCTCTGGCGAGGAGGAGGGCTGCGCCTCCATCCGCCTGTCCCCCAACCGCCCGCCGCTGGGGGGCTCTTGCCGCCTCTTCCCACTGGGCGCTGTGCACGCCCTCACCACCAAGGTGCACTTCGAATGCACGG___GCTGGCATGACGCGGAGGATGCTGGCGCCCCGCTGGTGTACGCCCTGCTGCTGCGGCGCTGTCGCCAGGGCCACTGCGAGGAGTTCTGTGTCTACAAGGGCAGCCTCTCCAGCTACGGAGCCGTGCTGCCCCCGGGTTTCAGGCCACACTTCGAGGTGGGCCTGGCCGTGGTGGTGCAGGACCAGCTGGGAGCCGCTGTGGTCGCCCTCAACAG___GTCTTTGGCCATCACCCTCCCAGAGCCCAACGGCAGCGCAACGGGGCTCACAGTCTGGCTGCACGGGCTCACCGCTAGTGTGCTCCCAGGGCTGCTGCGGCAGGCCGATCCCCAGCACGTCATCGAGTACTCGTTGGCCCTGGTCACCGTGCTGAACGAG___TACGAGCGGGCCCTGGACGTGGCGGCAGAGCCCAAGCACGAGCGGCAGCACCGAGCCCAGATACGCAAGAACATCACGGAGACTCTGGTGTCCCTGAGGGTCCACACTGTGGATGACATCCAGCAGATCGCTGCTGCGCTGGCCCAGTGCATG___GGGCCCAGCAGGGAGCTCGTATGCCGCTCGTGCCTGAAGCAGACGCTGCACAAGCTGGAGGCCATGATGCTCATCCTGCAGGCAGAGACCACCGCGGGCACCGTGACGCCCACCGCCATCGGAGACAGCATCCTCAACATCACAG___GAGACCTCATCCACCTGGCCAGCTCGGACGTGCGGGCACCACAGCCCTCAGAGCTGGGAGCCGAGTCACCATCTCGGATGGTGGCGTCCCAGGCCTACAACCTGACCTCTGCCCTCATGCGCATCCTCATGCGCTCCCGCGTGCTCAACGAGGAGCCCCTGACGCTGGCGGGCGAGGAGATCGTGGCCCAGGGCAAGCGCTCGGACCCGCGGAGCCTGCTGTGCTATGGCGGCGCCCCAGGGCCTGGCTGCCACTTCTCCATCCCCGAGGCTTTCAGCGGGGCCCTGGCCAACCTCAGTGACGTGGTGCAGCTCATCTTTCTGGTGGACTCCAATCCCTTTCCCTTTGGCTATATCAGCAACTACACCGTCTCCACCAAGGTGGCCTCGATGGCATTCCAGACACAGGCCGGCGCCCAGATCCCCATCGAGCGGCTGGCCTCAGAGCGCGCCATCACCGTGAAGGTGCCCAACAACTCGGACTGGGCTGCCCGGGGCCACCGCAGCTCCGCCAACTCCGCCAACTCCGTTGTGGTCCAGCCCCAGGCCTCCGTCGGTGCTGTGGTCACCCTGGACAGCAGCAACCCTGCGGCCGGGCTGCATCTGCAGCTCAACTATACGCTGCTGGACG___GCCACTACCTGTCTGAGGAACCTGAGCCCTACCTGGCAGTCTACCTACACTCGGAGCCCCGGCCCAATGAGCACAACTGCTCGGCTAGCAGGAGGATCCGCCCAGAGTCACTCCAGGGTGCTGACCACCGGCCCTACACCTTCTTCATTTCCCCGGG___GAGCAGAGACCCAGCGGGGAGTTACCATCTGAACCTCTCCAGCCACTTCCGCTGGTCGGCGCTGCAGGTGTCCGTGGGCCTGTACACGTCCCTGTGCCAGTACTTCAGCGAGGAGGACATGGTGTGGCGGACAGAGGGGCTGCTGCCCCTGGAGGAGACCTCGCCCCGCCAGGCCGTCTGCCTCACCCGCCACCTCACCGCCTTCGGCGCCAGCCTCTTCGTGCCCCCAAGCCATGTCCGCTTTGTGTTTCCT___GAGCCGACAGCGGATGTAAACTACATCGTCATGCTGACATGTGCTGTGTGCCTGGTGACCTACATGGTCATGGCCGCCATCCTGCACAAGCTGGACCAGTTGGATGCCAGCCGGGGCCGCGCCATCCCTTTCTGTGGGCAGCGGGGCCGCTTCAAGTACGAGATCCTCGTCAAGACAGGCTGGGGCCGGGGCTCAG___GTACCACGGCCCACGTGGGCATCATGCTGTATGGGGTGGACAGCCGGAGCGGCCACCGGCACCTGGACGGCGACAGAGCCTTCCACCGCAACAGCCTGGACATCTTCCGGATCGCCACCCCGCACAGCCTGGGTAGCGTGTGGAAGATCCGAGTGTGGCACGACAACAAAG___GGCTCAGCCCTGCCTGGTTCCTGCAGCACGTCATCGTCAGGGACCTGCAGACGGCACGCAGCGCCTTCTTCCTGGTCAATGACTGGCTTTCGGTGGAGACGGAGGCCAACGGGGGCCTGGTGGAGAAGGAGGTGCTGGCCGCGA___GCGACGCAGCCCTTTTGCGCTTCCGGCGCCTGCTGGTGGCTGAGCTGCAGCGTGGCTTCTTTGACAAGCACATCTGGCTCTCCATATGGGACCGGCCGCCTCGTAGCCGTTTCACTCGCATCCAGAGGGCCACCTGCTGCGTTCTCCTCATCTGCCTCTTCCTGGGCGCCAACGCCGTGTGGTACGGGGCTGTTGGCGACTCTGCCTACAG___CACGGGGCATGTGTCCAGGCTGAGCCCGCTGAGCGTCGACACAGTCGCTGTTGGCCTGGTGTCCAGCGTGGTTGTCTATCCCGTCTACCTGGCCATCCTTTTTCTCTTCCGGATGTCCCGGAGCAAG___GTGGCTGGGAGCCCGAGCCCCACACCTGCCGGGCAGCAGGTGCTGGACATCGACAGCTGCCTGGACTCGTCCGTGCTGGACAGCTCCTTCCTCACGTTCTCAGGCCTCCACGCTGAG___CAGGCCTTTGTTGGACAGATGAAGAGTG)ACTTGTTTCTGGATGATTCTAAGAG|TGACCTTGAGGAACCCTGGGAGCTCAGGAAGGAAGGAGCGCCCAGAAGCAGGGACAGGGAGCTGGTTGGGGAGGACCAGAAATCAG___GTTATCAATACTCTGGCTGACCATCGTCATC(GTGAGACTGACTTTGGTGGAAGTCCTTGGATAATTATCATTATTGTGTTTCTGGGACGTTACAAATTTACCATTCTCTTCTGCACAATTTACCTTTGT___GTGCCTTTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATAGATCCAGGGATGTACAGCAGAGAGCTAGGAGGTCCAACCGCCGTAGACAGGAAG___GAATTAAAATTGGCCTGGAAGACATCTGTACTTTATGGAAACAGGCGGAAACAAAAGTTCAAGCTAAAATCCGTAAGATGAAGGTCACAAAGAAAGTCAACCATCATTACAAAATCAATGGAAAGAGGAAGACCGCCAAAGAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGTGGCGGGCAGAGGACTACCACAAATGCAAA___ATCACCCCCTCTGCAAGAAAGCCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCGCCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAATGTCTTCTTATTCCCCTTCCACCCTCTCCTCTTCCACCCTCCGTGGATGATAATCTCAAGACTCCTCCCTTAGCTACTCAGGAGGCCGAGGCAGAAAAATCACTGAAACCCAAGAGGCAGAGGTTGAGTAAGCTGAGAACAGGTCATTGCACTCAAGCCTGGGCAATAAGAAGAAATCTGTGAGTGGAACAAAAGAAAAAAATCAAAAAACAAAACAAA)$ MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKs|dleepwelrkegaprsrdrelvgedqksgyqysg* 11BR073 ENSG00000129514.8 ENSG00000139865.16 -/- +/- chr14:37592078 chr14:37676480 CDS intron duplication/5'-5' 38 21 2 269 40 high out-of-frame . Forkhead_N-terminal_region(100%),Forkhead_domain(78%)| . . ENSG00000129514.8 ENSG00000139865.16 ENST00000250448.5 . upstream downstream duplicates(2) ^(AGAGGCAGCCCGCTCACTTCCCGCGGAGGCGCTCCCCGGCGCCGCGCTCCGCGGCAGCCGCCTGCCCCCGGCGCTGCCCCCGCCCGCCGCGCCGCCGCCGCCGCCGCGCACGCCGCGCCCCGCAGCTCTGGGCTTCCTCTTCGCCCGGGTGGCGTTGGGCCCGCGCGGGCGCTCGGGTGACTGCAGCTGCTCAGCTCCCCTCCCCCGCCCCGCGCCGCGCGGCCGCCCGTCGCTTCGCACAGGGCTGGATGGTTGTATTGGGCAGGGTGGCTCCAGGATGTTAGGAACTGTGAAGATGGAAGGGCATGAAACCAGCGACTGGAACAGCTACTACGCAGACACGCAGGAG___GCCTACTCCTCCGTCCCGGTCAGCAACATGAACTCAGGCCTGGGCTCCATGAACTCCATGAACACCTACATGACCATGAACACCATGACTACGAGCGGCAACATGACCCCGGCGTCCTTCAACATGTCCTATGCCAACCCGGGCCTAGGGGCCGGCCTGAGTCCCGGCGCAGTAGCCGGCATGCCGGGGGGCTCGGCGGGCGCCATGAACAGCATGACTGCGGCCGGCGTGACGGCCATGGGTACGGCGCTGAGCCCGAGCGGCATGGGCGCCATGGGTGCGCAGCAGGCGGCCTCCATGAATGGCCTGGGCCCCTACGCGGCCGCCATGAACCCGTGCATGAGCCCCATGGCGTACGCGCCGTCCAACCTGGGCCGCAGCCGCGCGGGC)GGCGGCGGCGACGCCAAGACGTTCAAGCGCAGCTACCCGCACGCCAAGCCGCCCTACTCGTACATCTCGCTCATCACCATGGCCATCCAGCAGGCGCCCAGCAAGATGCTCACGCTGAGCGAGATCTACCAGTGGATCATGGACCTCTTCCCCTATTACCGGCAGAACCAGCAGCGCTGGCAGAACTCCATCCGCCACTCGCTGTCCTTCAATGACTGCTTCGTCAAGGTGGCACGCTCCCCGG|TTTGCCTGACAAGGGTCTAGTATTAGGAATATATAAGGAAGTCTTAGAAGTTAACAAAAAGACCAAAAAAAATTAAAAATGGGCAATGGACTCCTGGCTTTGAAGTTAATAATACTCTTTGGCAATAACACAAGTAGTTTTTAAGGTAGAAAAAAACAACAGAAAGAAGCTTCAAAGGAAATACCCTGATTATTCAGCTTAAGAATTTCACTCCCTTCCTCTTCCTACCAGTTGTAAGTGTCCTGGCCACCCCACTATCTCTGACC MLGTVKMEGHETSDWNSYYADTQEAYSSVPVSNMNSGLGSMNSMNTYMTMNTMTTSGNMTPASFNMSYANPGLGAGLSPGAVAGMPGGSAGAMNSMTAAGVTAMGTALSPSGMGAMGAQQAASMNGLGPYAAAMNPCMSPMAYAPSNLGRSRAGGGGDAKTFKRSYPHAKPPYSYISLITMAIQQAPSKMLTLSEIYQWIMDLFPYYRQNQQRWQNSIRHSLSFNDCFVKVARSP|vcltrv* 11BR073 ENSG00000117448.13 ENSG00000288208.1 +/+ -/+ chr1:45561878 chr1:45455279 CDS/splice-site intron duplication/5'-5' 30 26 0 576 59 high out-of-frame . Aldo/keto_reductase_family(100%)| . . ENSG00000117448.13 ENSG00000288208.1 ENST00000621846.4 . downstream upstream duplicates(1) ^(AAAAGGCGAGGCTGGCCCCGCCCCTTGCACCGCCCACGTGGCCAGCGCCACCTGCCTCATTGTGCCCAGGAGTTCTCCAAACCCGCGCTGCGGA___)GTCCTTCCTCGGGAGGCGGCGAAGGCGGTCCACCCTGCGCGTGATCCTTcATGCCCGGCCCCTGCCCCTCCCTCCGGGTGGAACTTCCCCCTCACCGCCAGACTTAAGCTGAGGATCGTTGGATCTCTGGCGGGGTGCAGAACTGAGCCCAGGCCACAGTACCCTATTCACGCTCTGTGCTTGTGCCAAG___GGGGCAATGGCGGCTTCCTGTGTTCTACTGCACACTGGGCAGAAGATGCCTCTGATTGGTCTGGGTACCTGGAAGAGTGAGCCTGGTCAG|ACCCCTGAATTCCAGCAACCAGTTTGAAGTCCCCCACAGAGGAACGGGATCTGCAAGAGAATACAGCTTCTTCATCTCCCTGTCCCATGACTTCATCCTGTACTCTTTAACAAATAAACAATTGCCACACTTCGGCCCACTTCAAAACCCTTAAAAAACCTTAGCCCCCATCTCTTACGGGAGATGAATTTGAGGTTTTCCTCCATCTCCTCATTTGGCGGCCCTATGATTAGAC MAASCVLLHTGQKMPLIGLGTWKSEPGQ|tpefqqpv* 11BR073 ENSG00000117448.13 ENSG00000070759.17 +/+ -/+ chr1:45561878 chr1:45455279 CDS/splice-site intron duplication/5'-5' 30 26 0 576 59 high out-of-frame . Aldo/keto_reductase_family(100%)| . . ENSG00000117448.13 ENSG00000070759.17 ENST00000621846.4 . downstream upstream duplicates(1) ^(AAAAGGCGAGGCTGGCCCCGCCCCTTGCACCGCCCACGTGGCCAGCGCCACCTGCCTCATTGTGCCCAGGAGTTCTCCAAACCCGCGCTGCGGA___)GTCCTTCCTCGGGAGGCGGCGAAGGCGGTCCACCCTGCGCGTGATCCTTcATGCCCGGCCCCTGCCCCTCCCTCCGGGTGGAACTTCCCCCTCACCGCCAGACTTAAGCTGAGGATCGTTGGATCTCTGGCGGGGTGCAGAACTGAGCCCAGGCCACAGTACCCTATTCACGCTCTGTGCTTGTGCCAAG___GGGGCAATGGCGGCTTCCTGTGTTCTACTGCACACTGGGCAGAAGATGCCTCTGATTGGTCTGGGTACCTGGAAGAGTGAGCCTGGTCAG|ACCCCTGAATTCCAGCAACCAGTTTGAAGTCCCCCACAGAGGAACGGGATCTGCAAGAGAATACAGCTTCTTCATCTCCCTGTCCCATGACTTCATCCTGTACTCTTTAACAAATAAACAATTGCCACACTTCGGCCCACTTCAAAACCCTTAAAAAACCTTAGCCCCCATCTCTTACGGGAGATGAATTTGAGGTTTTCCTCCATCTCCTCATTTGGCGGCCCTATGATTAGAC MAASCVLLHTGQKMPLIGLGTWKSEPGQ|tpefqqpv* 11BR073 ENSG00000126003.7 ENSG00000232907.8 -/- -/- chr20:32201919 chr20:36512725 CDS/splice-site exon/splice-site duplication 15 16 1 52 35 high out-of-frame . C2H2-type_zinc_finger(100%)| . . ENSG00000126003.7 ENSG00000232907.8 ENST00000246229.5 ENST00000433238.5 upstream downstream duplicates(4),mismatches(1) ^(ACAATGCACCGCACAATGGCCCGACCGCCGCCACTACCGGGGCCTGAGGGGGCCTGGCGGAGCCCGAGCGCGGCCCGGCCCGCAGCGTGGGGCCCCGAGCGCG___GTGAAGAGATTGTTTTCTGAAAGCTGCGTTGGAGGCTGTGACAGAGCTGAGAGCCTGTGTGGAGC)GGATGGGGAGGCTTTCTCAATAACATGGCCCTTTGCCATTAGCCTTGCCATGACCACATTTTTCACCAGCGTCCCCCCCTGGATTCAAGATGCAAAGCAGGAGGAGGAAGTGGGCTGGAAACTAGTTCCCAGGCCTCGGGGCCGGGAGGCGGAGAGTCAAGTGAAGTGCCAATGTGAAATTTCGGGAACACCTTTCTCAAATGGGGAGAAGCTGAGGCCTCACAGCCTCCCGCAACCAGAGCAGAGACCATATAGCTGCCCTCAGCTGCACTGTGGCAAGGCTTTTGCTTCCAAATACAAGCTGTATAG|GTTTCTGCTCACAGGTCACCTGGCCAGGGATGCCCTCCCTGACCACCCTGAATGCAACAGCAACACCGACCCTGCCTGTGCAGTGGACACTATACTGCTCTTACCCTTCCTGGTTAT$ MTTFFTSVPPWIQDAKQEEEVGWKLVPRPRGREAESQVKCQCEISGTPFSNGEKLRPHSLPQPEQRPYSCPQLHCGKAFASKYKLYr|flltghlardalpdhpecnsntdpacavdtilllpflv 11BR073 ENSG00000126003.7 ENSG00000232907.8 -/- -/- chr20:32201919 chr20:36508825 CDS/splice-site exon/splice-site duplication 1 1 0 52 53 medium out-of-frame . C2H2-type_zinc_finger(100%)| . . ENSG00000126003.7 ENSG00000232907.8 ENST00000246229.5 ENST00000439595.5 upstream downstream mismatches(1) ^(ACAATGCACCGCACAATGGCCCGACCGCCGCCACTACCGGGGCCTGAGGGGGCCTGGCGGAGCCCGAGCGCGGCCCGGCCCGCAGCGTGGGGCCCCGAGCGCG___GTGAAGAGATTGTTTTCTGAAAGCTGCGTTGGAGGCTGTGACAGAGCTGAGAGCCTGTGTGGAGCGGATGGGGAGGCTTTCTCAATAACATGGCCCTTTGCCATTAGCCTTGCCATGACCACATTTTTCACCAGCGTCCCCCCCTGGATTCAAGATGCAAAGCAGGAGGAGGAAGTGGGCTGGAAACTAGTTCCCAGGCCTCGGGGCCGGGAGGCGGAGAGTCA)AGTGAAGTGCCAATGTGAAATTTCGGGAACACCTTTCTCAAATGGGGAGcAGCTGAGGCCTCACAGCCTCCCGCAACCAGAGCAGAGACCATATAGCTGCCCTCAGCTGCACTGTGGCAAGGCTTTTGCTTCCAAATACAAGCTGTATAG|TGATTCTGTCCAAG(___CTTAACAGTGGATGTAACTGCTTCTTTGCTGTGGCAGATTGTATTTTCTGAAGGCCCCAACAGTCTCTCCTGTCCCTCCTCCTCTTCTGAAACCTTGATACTTCCCTATGAAGAGGTAGGGTCTAATACTTCCCTCCTTCAACCTGAAGCCCCGCCTTGGGCTTGTGACTTGCTTGTAACCAGTCAAATACAGTGGAAGAGTTACTACGTGACTTCCAGGGCTAGGTCAGAAAAGGATGCAGCCTCAGGGTTCAACACACACTTGGGCCTGGAGCCACCATGCAAGAAGGCTGCCATGCTGCGAGGGAGCAAAGGCACGTGGAGGGACATACACAGGGGCTGTGGCTGGCAGTCCTGGCCTTTGAGTCATCCTTGTTTAAGTGCCAGGCACACACGTTAACTACCTTTAGGTAATTCCATACCTCAGGTGTCATGTCACCCCAAGCCCTTGAGCCTTCCCATCTGAAGCCCCAGGCTGTATGGAGAAGAAACAAGATGTTCCTGCCACGCTCTTTCTGAACTGCTGACATACAGAATCTGTGACCATAATAAAATGGTTGTTTTGTGCCATTA)$ MTTFFTSVPPWIQDAKQEEEVGWKLVPRPRGREAESQVKCQCEISGTPFSNGEqLRPHSLPQPEQRPYSCPQLHCGKAFASKYKLYs|dsvqa* 11BR073 ENSG00000126822.17 ENSG00000258583.7 +/+ +/- chr14:64737375 chr14:58683762 CDS/splice-site intron inversion/3'-3' 25 3 1 89 67 high out-of-frame . PH_domain(100%),RhoGEF_domain(100%)| . . ENSG00000126822.17 ENSG00000258583.7 ENST00000247226.13 . downstream downstream duplicates(3),mismatches(8) ^(GCTCCCTCGCTCCCTCGCTCCCTCCTGCCCTCCCGCTGCAGCTCCGGCTCCGCTCGACTTCCTGCCGGGCGCTGGCAAGCCGCGCGCTGCCTGGGGTCTCCGGGGGCCGCGCTTGCAGCTGGCCGAGTCCGGGCCAGCTGAGGGGCTGGCGGTGGGCGGGAGCGGTCGGCGGCCTCAGCCCCTTCAGAGAGCGACTTTCAAACTCGCGCCCGCGTCGCGGCAGCACCTGGGCAGCCCCGCACGCCGTGCGCGTCCCGAGCCCGCGGGGCAGCTACCGCTCG___AATCTCCCTGGGGTGCCCTCCCCAGGCAGCAATGCCAGGATGCCTGTGTCCACCTCCCTCCACCAGGATGGCAGCCAGGAGCGGCCGGTGAGCCTGACCTCTACCACCTCCTCGTCGGGCTCCTCCTGTGACAGTCGCAGTGCCATGGAGGAGCCCAGCAGCTCCGAGGCTCCCGCCAAGAATGGGGCAGGCTCCCTGAGAAGCCGGCATCTGCCCAACAGCAACAACAACTCCAGCAGCTGGTTGAACGTGAAGGGGCCCCTCTCCCCGTTCAACAGCCGGGCAGCGGCAGGGCCTGCACACCACAAGCTCAGCTACCTGGGCCGAGTGGTGCGGGAGATCGTGGAGACAGAGCGCATGTACGTACAGGACCTGCGCAGCATCGTGGAG___GACTACCTCTTGAAGATCATTGACACACCCGGGCTGCTGAAGCCAGAACAGGTCAGCGCCCTCTTTGGGAACATAGAAAATATCTACGCGCTGAACAG___CCAGCTCCTCAGAGACCTGGACAGCTGCAATAGTGACCCCGTGGCTGTGGCCAGCTGCTTTGTGGAAAGG___AGCCAAGAGTTTGATATCTACACTCAGTATTGCAACAATTACCCCAA___CTCCGTGGCCGCCCTGACGGAATGCATGCGGGACAAGCAGCAGGCCAAGTTCTTTCGGGACCGGCAGGAGCTGCTACAGCACTCGCTGCCCTTGGGCTCCTACCTGCTGAAGCCAGTCCAGCGCATCCTCAAGTACCACCTGCTGCTCCAG___GAAATTGCCAAGCATTTTGATGAAGAAGAGGATGGCTTTGAGGTGGTGGAGGATGCCATTGACACCATGACCTGTGTGGCCTGGTACATCAACGACATGAAGAGGAGGCATGAGCACGCGGTCCGGCTCCAG___GAGATTCAGTCACTCCTCATCAACTGGAAGGGGCCCGACCTGACCACCTACGGGGAGCTTGTCCTGGAGGGCACATTCCGCGTGCATCGCGTGCGCAATGAAAGGACCTTTTTCCTCTTTGACAAAACACTGCTTATCACCAAGAAGCGGGGCGATCACTTTGTCTACAAGGGCAACATCCCG___TGCTCCTCCCTGATGCTGATCGAAAGCACCAGAGACTCCCTGTGCTTCACTGTCACCCACTACAAGCACAGCAAGCAGCAGTACAGCATCCAG___GCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAG___GCCAAGGAAGCCATCTTGGAAATGGATTCCTATT___ATCCCAATCGGTACCGCTGCAGCCCAGAGCGGCTGAAGAAGGCTTGGTCCTCCCAGGATGAGGTGTCCACCAATGTGCGCCAGGGGCGCCGGCAATCTG___)AGCCAACCAAACACCTGCTCAGGCAACTCAACGAGAAAG___CCCGAGCAGCAGGAATGAAG|GTTTGTCACCTCATGATCGATCTTATGGCTACTGCAGCTCTAGGCATCACATCCACATTCAAGACAGGATGAAATGGGAAGGGATGATGAAGCAATTCCTCACTTGCATCTGTTCCTTTTATCAGAAAAGCCAAAGACCCACCAACATGCTTCACCTTTGTTTCATTGGCCCAAGTGGTCACCTAGGTCTGTAAGGGAGATTGGAAATGAGAGTGTTTCTGGTTTATTCTACCACGAGATTTGAGAAAGGGAAAGGTGTGTTGCGAATGACAATTGGGTTAGCCAAGC MPVSTSLHQDGSQERPVSLTSTTSSSGSSCDSRSAMEEPSSSEAPAKNGAGSLRSRHLPNSNNNSSSWLNVKGPLSPFNSRAAAGPAHHKLSYLGRVVREIVETERMYVQDLRSIVEDYLLKIIDTPGLLKPEQVSALFGNIENIYALNSQLLRDLDSCNSDPVAVASCFVERSQEFDIYTQYCNNYPNSVAALTECMRDKQQAKFFRDRQELLQHSLPLGSYLLKPVQRILKYHLLLQEIAKHFDEEEDGFEVVEDAIDTMTCVAWYINDMKRRHEHAVRLQEIQSLLINWKGPDLTTYGELVLEGTFRVHRVRNERTFFLFDKTLLITKKRGDHFVYKGNIPCSSLMLIESTRDSLCFTVTHYKHSKQQYSIQAKTVEEKRNWTHHIKRLILENHHATIPQKAKEAILEMDSYYPNRYRCSPERLKKAWSSQDEVSTNVRQGRRQSEPTKHLLRQLNEKARAAGMK|vchlmidlmataalgitstfktg* 11BR073 ENSG00000123983.14 ENSG00000226280.2(151898),ENSG00000233710.1(5745) +/+ ./+ chr2:222900780 chrX:67527418 5'UTR/splice-site intergenic translocation 7 13 2 67 43 high . . . . . ENSG00000123983.14 . ENST00000357430.8 . downstream upstream duplicates(3),mismatches(1) ^(AGACGCTGCTGTGGCTGCGCCGGGCTGCGACACTGCAGTTGTCTACGCGGCCGGGGCCGGGACGAGGAGGCGTTGGACGGGGTCGCATACGTTCGTCCCCTCGCATTGCGGCCCCGACAGCTGCGCCAGGATCCCCGGGCGGCGGCGCGGGGCGTGAACGCTCTGGGGCTCAGCCAGGCCTGCGCGGGCCCGAGGCCGGAGGAAC)CCGGACTCCGGCGTAGCG___GTTTTGACACAAGGGCGCATATCTTCAAAGCACCTAGTACCTCCTACCATTGTCAACTG___ATACAGAATTCGTTGTTGGGAAGGACTGGGGAAACAGCTGTAACATTTGCCACCCTCAGAAGCTGCTGGTCCTGTGTCACACCACCTTAGCCTCTTGATCGAGGAAG|ATCTGCTGTCTGATATTCTCCAGTCCAGGAAATGTAGGTATTTTTCTGGATTTTACTGTGAAACCAAAGTCACAATGGCACAAGCCAG___GTTGGAAAAAATTGAATCAGCTAAGCCTAGAGAAATGAGTTGCAGGATATCAGAGGAGAGTATGAAAATAAATAATAACGACTGTTTAAAATGATAGCATTTGC?CAATGCTTTACTGTTCC...___TTTATTGGAAGTTTAGAAAGGCCTGAGG . 11BR073 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 9 0 18 26 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream . CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGC(CTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR073 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 4 0 138 43 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAG)GTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR073 ENSG00000129292.20 ENSG00000164749.13 +/+ +/+ chr8:132839582 chr8:75490089 CDS/splice-site 5'UTR/splice-site duplication 3 6 0 68 19 high out-of-frame . PHD_finger_protein_20-like_protein_1(100%),Protein_of_unknown_function_(DUF3776)(100%)|Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%) . . ENSG00000129292.20 ENSG00000164749.13 ENST00000395386.6 ENST00000354370.5 downstream upstream duplicates(1) ^(CGTCAGGGCTGGCCGGCGGCGGAGGCGGCGGCGGCGGCGGCGATGGCAGCGGACCCTGAGCGAGCTTGAGGGCTCGGACCCAGCTCCCTCCCGCGAAACCTTGGGCGGATCCGGCGCTGCGGCCCCAGCTCGCTCCGCTCCTGCTCCCTCCCCGGCCGCTGCCTGGGCGGAGGCAGAGGCAGAGGCCCGGGCTGGCCGCCCTGCTCGTGCCCCAGCTCGGCCCCGGACGGCCCGGCTGCTGTGCAGAGAGGAGGCCGAGTCG___GTAGTGAAAAGAGAATACTGAAGAATAGGATCTCAAGATGAGTAAAAAGCCCCCAAATCGCCCTGGAATCACTTTTGAGATTGGTGCTCGTTTGGAGGCACTGGACTACTTACAAAAATG___GTATCCATCACGAATTGAAAAAATTGACTATGAGGAGGGCAAGATGTTGGTCCATTTTGAGCGCTGGAGTCATCGTTATGATGAGTGGATTTACTGGGATAGCAATAGATTGCGACCCCTTGAGAGACCAGCACTAAGAAAAGAAGGGCTAAAAGATGAGGAAGATTTCTTT___GATTTTAAAGCTGGAGAAGAAGTTCTGGCTCGTTGGACAGACTGTCGCTATTACCCTGCCAAGATTGAAGCAATTAACAAAGAAG___GAACATTTACAGTTCAGTTTTATGATGGAGTAATTCGTTGTTTAAAAAGAATGCACATTAAAGCCATGCCCGAGGATGCTAAGGGGCAG___GTGAAATCCCAGCATCCACTAAGCTGGTGTTGTCCTATCGACCCAGCTGGATCGTGTAACCAGTCTATGGGAAGTGAG___GATTGGATAGCTTTAGTCAAAGCAGCTGCTGCAGCTGCAGCCAAGAACAAAACAGGGAGTAAACCTCGAACCAGCGCTAACAGCAATAAAGATAAGGATAAAGATGAGAGAAAGTGGTTTAAAGTACCTTCAAAGAAGGAGGAAACTTCAACTTGTATAGCCACACCAGACGTAGAGAAGAAGGAAGATCTGCCTACATCTAGTGAAACATTTG___GACTTCATGTAGAGAACGTTCCAAAGATGGTCTTTCCACAGCCAGAGAGCACATTATCAAACAAGAGGAAAAATAATCAAGGCAACTCGTTTCAGGCAAAGAGAGCTCGACTTAACAAGATTACTG___GTTTGTTGGCATCCAAAGCTGTTGGGGTTGATGGTGCTGAAAAAAAGGAAGACTACAATGAAACAGCTCCAATGCTGGAGCAG___GCGATTTCACCTAAACCTCAAAGTCAGAAAAAAAATGAAGCTGACATTAGCAGTTCTGCCAACACTCAGAAACCTGCACTGTTATCCTCAACTTTGTCTTCAGGGAAGGCTCGCAGCAAGAAATGCAAACATGAATCTGGAGATTCTTCTGGGTGTATAAAACCCCCTAAATCACCACTTTCCCCAGAATTAATACAAGTCGAGGATTTGACGCTTGTATCTCAGCTTTCTTCTTCAGTGATAAATAAAACTA___GTCCTCCACAGCCTGTGAATCCCCCTAGACCTTTCAAGCATAGTGAGCGGAGAAGAAGATCTCAGCGTTTAGCCACCTTACCCATGCCTGATGATTCTGTAGAAAAGGTTTCTTCTCCCTCTCCAGCCACTGATGGGAAAGTATTCTCCATCAGTTCTCAAAATCAGCAAGAATCTTCAGTACCAGAGG___TGCCTGATGTTGCACATTTGCCACTTGAGAAGCTGGGACCCTGTCTCCCTCTTGACTTAAGTCGTGGTTCAGAAGTTACAGCACCGGTAGCCTCAGATTCCTCTTACCGTAATGAATGTCCCAGGGCAGAAAAAGAGGATACACAGATGCTTCCAAATCCTTCTTCCAAAGCAATAGCTGATGGAAGAGGAGCTCCAGCAGCAGCAG___GAATATCGAAAACAGAAAAAAAAGTGAAATTGGAAGACAAAAGCTCAACAGCATTTG___GTAAGAGAAAAGAAAAAGATAAGGAAAGAAGAGAGAAGAGAGACAAAGATCACTACAGACCAAAACAGAAGAAGAAGAAAAAAAAGAAAAAGAAATCTAAGCAACATG___ACTATTCAGACTATGAAGACAGTTCCCTCGAATTTTTGGAAAGGTGCTCTTCTCCACTAACTCGATCTTCTGGGAGTTCTCTGGCTTCACGAAGCATGTTTACGGAGAAAACTACAACCTATCAGTACCCAAGGGCAATTCTATCCGTTGATCTTAGTGGTGAAA___ACTTATCAGATGTAGACTTCCTAGATGATTCTTCAACGGAGAGTTTGCTTCTGAGTGGGGATGAATACAATCAGGACTTTGATTCAACCAATTTTGAGGAATCTCAGGATGAGGATGATGCTCTTAATGAAATTGTGCGATGTATTTGTGAGATGGATGAGGAGAATGGCTTCATGATCCAG___TGTGAAGAGTGCTTGTGTTGGCAACACAGCGTGTGCATGGGGCTGCTGGAGGAGAGCATTCCAGAGCAGTACATCTGCTATATCTGCCGGGACCCACCAG___)GTCAGAGGTGGAGTGCAAAATATCGTTATGATAAGGAGTGGTTGAATAATGGGAGAATGTGCGGGTTATCATTTTTCAAAGAAAATTATTCTCATCTCAATGCCAAAAAGATAGTTTCTACACATCACCTGCTTGCTGATGTCTATGGTGTTACAGAAGTGCTACACGGGCTACAGCTGAAGATTGGAATACTAAA|GAGCACCAGCGAAAGCAGCCAGTCTGAGATATTGACACTACAGAAAAAACTGACAGCTTACTCCTTGTATTGATTCTACTCTTCTCTACAAATATAGACTCCGTTCCCTACCACAGCCTT(___ATAGTTCTGCCCCAGAGACAAGTATGAATACCACAGACAACGGTGTCAACTGTCTGTGTGCTATCTGTGGGGACAGAGCAACAGGAAAACACTATGGGGCATCCAGCTGTGATGGGTGCAAGGGTTTCTTCAGACGCAGCATTCGTAAGAGTCACGTTTATTCTTGCAG___GTTCAGTCGGCAATGTGTTGTTGACAAGGACAAAAGGAATCAATGTAGATATTGTCGATTAAGAAAGTGTTTTAGAGCGGGAATGAAAAAAGAAG___CTGTACAAAATGAACGTGACAGAATAAGCACCAGAAGAAGCACATTTGATGGCAGCAACATCCCCTCCATTAACACACTGGCACAAGCTGAAGTTCGGTCTCGCCAG___ATCTCAGTCTCAAGCCCTGGGTCAAGCACTGACATAAACGTTAAGAAAATTGCAAGTATTGGTGATGTCTGTGAATCTATGAAACAGCAGCTCTTAGTCTTGGTGGAATGGGCTAAATATATTCCTGCCTTCTGTGAATTACCATTGGATGATCAG___GTGGCACTGTTGAGAGCTCACGCAGGGGAGCACTTACTGCTTGGAGCTACAAAGAGATCCATGATGTATAAAGATATTTTGCTTTTGG___GAAACAACTATGTTATTCACCGCAACAGCTGTGAAGTTGAGATTAGCCGTGTGGCCAATCGTGTTCTAGATGAGCTGGTTAGACCATTTCAAGAAATCCAGATTGATGACAATGAGTATGCTTGTTTAAAGGCAATTGTATTTTTTGATCCAG___ATGCAAAAGGGCTAAGCGATCCAGTAAAAATTAAGAACATGAGGTTCCAAGTGCAGATCGGTTTGGAGGACTACATCAATGATCGGCAGTATGACTCCCGGGGGAGGTTTGGAGAGTTGCTTCTGCTCCTGCCCACACTGCAGAGCATCACGTGGCAAATGATTGAGCAAATACAGTTTGTTAAACTTTTTGGGATGGTTAAAATTGACAATCTACTTCAGGAAATGCTATTAGGTG___GGGCTTCCAATGATGGCAGTCATCTCCATCATCCAATGCATCCACATTTGTCTCAAGACCCATTAACTGGACAAACTATACTTTTAGGTCCCATGTCAACACTGGTTCATGCAGACCAGATCT___CAACTCCTGAAACCCCACTCCCTTCCCCACCACAAGGCTCTGGGCAAGAACAGTACAAAATAGCTGCAAACCAAGCATCAGTCATTTCACACCAGCATCTCTCCAAACAAAAGCAATTGTGAAAATGTGTTTACTTCAGAACGGCACTACATAAATGTGAAAAGTTGTTGATCTTGAAATATCTCAGGATAGCACTTTTGGCAAACTCTTAGCCAAGGCTTCTTCATTGGTGCTGTTATAAGATGGTGTCCTATTTTCTTGTTTATACGTTCATTCTGTTTGTTATTGCTACTATGTAAAACTTTCACATGCAACCAATGTATATCTGAGTTTGAAGATGTTTATATAGGGTA)$ MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYWDSNRLRPLERPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCLKRMHIKAMPEDAKGQVKSQHPLSWCCPIDPAGSCNQSMGSEDWIALVKAAAAAAAKNKTGSKPRTSANSNKDKDKDERKWFKVPSKKEETSTCIATPDVEKKEDLPTSSETFGLHVENVPKMVFPQPESTLSNKRKNNQGNSFQAKRARLNKITGLLASKAVGVDGAEKKEDYNETAPMLEQAISPKPQSQKKNEADISSSANTQKPALLSSTLSSGKARSKKCKHESGDSSGCIKPPKSPLSPELIQVEDLTLVSQLSSSVINKTSPPQPVNPPRPFKHSERRRRSQRLATLPMPDDSVEKVSSPSPATDGKVFSISSQNQQESSVPEVPDVAHLPLEKLGPCLPLDLSRGSEVTAPVASDSSYRNECPRAEKEDTQMLPNPSSKAIADGRGAPAAAGISKTEKKVKLEDKSSTAFGKRKEKDKERREKRDKDHYRPKQKKKKKKKKKSKQHDYSDYEDSSLEFLERCSSPLTRSSGSSLASRSMFTEKTTTYQYPRAILSVDLSGENLSDVDFLDDSSTESLLLSGDEYNQDFDSTNFEESQDEDDALNEIVRCICEMDEENGFMIQCEECLCWQHSVCMGLLEESIPEQYICYICRDPPGQRWSAKYRYDKEWLNNGRMCGLSFFKENYSHLNAKKIVSTHHLLADVYGVTEVLHGLQLKIGILk|stsessqseiltlqkkltaysly* 11BR073 ENSG00000124145.6 ENSG00000286006.2(170176),ENSG00000054803.4(45950) -/- ./+ chr20:45348325 chr20:55951407 CDS/splice-site intergenic inversion 2 4 0 107 28 high out-of-frame . . . . ENSG00000124145.6 . ENST00000372733.3 . upstream upstream . ^(ACTCGCCGCA)GCCTGCGCGCCTTCTCCAGTCCGCGGTGCCATGGCCCCCGCCCGTCTGTTCGCGCTGCTGCTGcTCTTCGTAGGCGGAGTCGCCGAGTCG|GTTCACAGACCTCAGTGCACGACATTAAGGGGGAAAAGGCTAACAGAGGAAGGTCCAACCCAGCCAATGTTCACCAGTAAAAGGTGATTTATTAGGA MAPARLFALLLlFVGGVAES|vhrpqcttlrgkrlteegptqpmftskr* 11BR073 ENSG00000156802.13 ENSG00000177570.14 -/- -/- chr8:123334200 chr8:118379700 CDS/splice-site CDS/splice-site deletion 3 2 0 236 41 high in-frame . ATPase_family_associated_with_various_cellular_activities_(AAA)(100%),Bromodomain(100%)|SAM_domain_(Sterile_alpha_motif)(100%) . . ENSG00000156802.13 ENSG00000177570.14 ENST00000521903.5 ENST00000409003.5 upstream downstream . ^(AGGTTTGGGCTTGGAGTTGGGCCCTGAATGGCGCTTTGCTGTGAATCTCCGCGGGGAGGCTCTTCCAACCAGGGGCTGAGCTTCTGCGCTGTGGAGAAGCCAG___GATCTCATTTGCCTCTTTCAACATCACTCCTGCTGGAGCCACCACCAGCTCAATCCTTGGCATCATCACCTCACTGAGGAGGGTGGTGTGGTCCTTCTCAGCAAGAAAGTCGATGTCTCGGGAAGTGACGATGCCCACCGGCTTGCTGCCCATGGTGCCTGTCTCAGTGATGGGGATACCAGAGAAGCCATGCCGCATCGTGGCCTCCAGCACATCACCCACAGGGTGCGAGGGGCTCAGCACCATGGGGTCCGTGATGAAGCCATGTTCAAACTTCTTGACCTTCCGCACCTCCTTGGCCTGGAACTCTGGGGTGCAGTTGTGGTGAATGAAACCAATACCTCCCACCAGAGCCATCGTGATGGCCATGTTGCCCTCTGTCACAGTGTCCATGGAGGAGGAGATCAGCGGCGTCTTCAGCGTGATCTTCCAG___GATGGGTCATCAGTTAAGGAAGTTGAAACCTACCACCGGACACGTGCTTTAAGATCTTTGAGAAAAGATGCACAGAATTCTTCAGATTCTAGTTTTGAGAAGAATGTGGAAATAACGGAGCAACTTGCTAATGGCAGGCATTTTACAAG___GCAGTTGGCCAGACAGCAGGCTGATAAAAAAAAAGAAGAGCACAGAGAAG___ACAAAGTGATTCCAGTTACTCGGTCATTGAGGGCTAGAAACATCGTTCAAAGTACAGAACACTTACATGAAGATAATGGTGATGTTGAAGTGCGTCGAAGTTGTAGGATTAGAAGTCGTTATAGTGGTGTAAACCAGTCCATGCTGTTTGACAAACTTATAACTAA___CACTGCTGAAGCTGTACTTCAAAAAATGGATGACATGAAGAAGATGCGTAGACAGCGAATGAGAGAACTTGAAGACTTGGGAGTGTTTAATGAAACAGAAGAA___AGCAATCTTAATATGTACACAAGAGGAAAACAGAAAGATATTCAAAGAACTGATGAAGAAACAACTGATAATCAAGAAGGCAGTGTGG___AGTCATCTGAAGAGGGTGAAGACCAAGAACATGAAGATGATGGTGAAGATGAAGATGATGAAGATGATGATGATGATGACGATGATGATGATGATGATGATGATGAAGATGATGAAGATGAAGAAGATGGAGAAGAAGAGAATCAGAAGCGATATTATCTTAGACAGAGAAAAGCTACTGTTTACTATCAGGCTCCATTGGAAA___AACCTCGTCACCAGAGAAAGCCCAACATATTTTATAGTGGCCCAGCTTCTCCTGCAAGACCAAGATACCGATTATCTTCCGCAGGACCAAGAAGTCCTTACTGTAAACGAATGAACAG___GCGAAGGCATGCAATCCACAGTAGTGACTCGACTTCATCTTCCTCCTCTGAAGATGAACAGCACTTTGAGAGGCGGAGGAAAAGGAGTCGTAATAGGGCTATCAATAG___GTGCCTCCCACTAAATTTTCGGAAAGATGAATTAAAAGGCATTTATAAAGATCGAATGAAAATTGGAGCAAGCCTTGCCGATGTTGATCCAATGCAACTAGATTCTTCA___GTACGATTTGATAGTGTTGGTGGCCTGTCTAATCATATAGCAGCTCTAAAAGAGATGGTGGTGTTTCCATTACTTTATCCAGAAGTCTTTGAAAAATTTAAAATTCAACCCCCAAG___AGGTTGTTTGTTTTATGGGCCACCTGGAACTGGAAAGACTCTGGTTGCCAGAGCACTTGCCAATGAGTGCAGTCAAGGGGATAAAAGAGTAGCATTTTTCATGAGGAAAGGTGCTGATTGTCTAAGTAAATGGGTAGGAGAATCTGAAAGACAGCTACGATTGCTGTTTGATCAG___GCCTATCAGATGCGCCCATCAATTATTTTTTTTGACGAAATTGATGGTCTGGCTCCAGTACGGTCAAGCAGGCAAGATCAGATTCACAG___CTCTTATGGATGGATTGGACAGCAGAGGGGAAATTGTGGTCATTGGTGCTACGAACAGGCTAGATTCTATAGATCCTGCTTTACGAAGGCCTGGTCGCTTTGATAGAGAATTCCTCTTTAGCCTGCCTGATAAAGAG___GCTCGAAAAGAGATTCTAAAGATTCACACCAGGGATTGGAATCCCAAACCACTGGACACATTTTTAGAAGAGCTAGCAGAAAACTGT___GATACTGTGGAGCAGATATTAAATCAATATGTGCTGAAGCTGCTTTATGTGCTTTACGACGACGCTACCCACAGATCTATACCACTAGTGAGAAACTGCAGTTGGATCTCTCTTCAATTAATATCTCAGCTAAGGATTTCGAGGTAGCTATGCAAAAGATGATACCAGCCTCCCAAAGAGCTGTGACATCACCTGGGCAGGCACTGTCCACCGTTGTGAAACCACTCCTGCAAAACACTGTTGACAAGATTTTAGAAGCCCTGCAGAGAGTATTTCCACATGCAGAATTCAGAACAAATAAAACATTAGACTCAG___ATATTTCTTGTCCTCTGCTAGAAAGTGACTTGGCTTACAGTGATGATGATGTTCCATCAGTTTATGAAAATGGACTTTCTCAGAAATCTTCTCATAAGGCAAAAGACAATTTTAATTTTCTTCATTTGAATAG___AAATGCTTGTTACCAACCTATGTCTTTTCGACCAAGAATATTGATAGTAGGAGAACCAGGATTTGGGCAAGGTTCTCACTTGGCACCAGCTGTCATTCATGCTTTGGAAAAGTTTACTGTATATACATTAGACATTCCTGTTCTTTTTGGAGTTAGTACTACATCCCCTGAAGAAACATGTGCCCAG___GTGATTCGTGAAGCTAAGAGAACAGCACCAAGTATAGTGTATGTTCCTCATATCCACGTGTGGTGGGAAATAGTTGGACCGACACTTAAAGCCACATTTACCACATTATTACAGAATATTCCTTCATTTGCTCCAGTTTTACTACTTGCAACTTCTGACAAACCCCATTCCGCTTTGCCAGAAGAG___GTGCAAGAATTGTTTATCCGTGATTATGGAGAGATTTTTAATGTCCAGTTACCGGATAAAGAAGAACGGACAAAATTTTTTGAAGATTTAATTCTAAAACAAGCTGCTAAGCCTCCTATATCAAAAAAGAAAGCAG___TTTTGCAGGCTTTGGAGGTACTCCCAGTAGCACCACCACCTGAGCCAAGATCACTGACAGCAGAAGAAGTGAAACGACTAGAAGAACAAGAAGAAGATACATTTAGAGAACTGAGGATTTTCTTAAGAAATGTTACACATAGGCTTGCTATTGACAAGCGATTCCGAGTGTTTACTAAGCCTGTTGACCCTGATGAG___GTTCCTGATTATGTCACTGTAATAAA)GCAACCAATGGACCTTTCATCTGTAATCAGTAAAATTGATCTACACAAGTATCTGACTGTGAAAGACTATTTGAGAGATATTGATCTAATCTGTAGTAATGCCTTAGAATACAATCCAGATAGAGATCCTGGAG___ATCGTCTTATTAGGCATAGAGCCTGTGCTTTAAGAGATACTGCCTATGCCATAATTAAAGAAGAACTTGATGAAGACTTTGAGCAGCTCTGTGAAGAAATTCAGGAATCTAGAAAGAAAAGAG|GGCGAGCCCTGCTGAGACTTACTGACAAAAAGCTCGAGCGAATGGGGATTGCCCAGGAGAACCTCCGGCAGCACATCTTACAACAGGTGCTCCAGCTGAAGGTGCGAGAAGAAGTCAGAAATCTACAGTTACTCACACAAG(___CATCATCTGAGGGTTCTCCATAAACACGGTTAGCCTTCCAAGCTGCTGTCCTGCCAGTTGATATGAACATGGCCTGTTCCTCACAGAAAGACTAACCCATGGCACTGCCAGAAGATATCCTTGGATCGTGGACAGATTAACTGGATTAACTGAAAAAAGCACCCATTCAGTCAATATTATGGGTTTTGGAAAAATCTTGCTTTGCTGTGGATTTAAAATGAGGTGCATAATATAATGCCAACTCATTCCAAGTGGTCATTGGCAGACCATTAGCTGGAAAATTGCTTCCAGTTTTCATCACTGTGCATAACTCAAGTTCCCTTTGGGGAGCTGTCTGTGCCCTTCACTAGAAGTCCTGTTTTAGCATGGCAACTACTGGATTATTTTATTATGTGTGCAGATGGCATGATGTTTTAGAAAAAAAAAATTACAGCAATTCTGCAATCTCAGTGGAAGTGTTCACAATATTATGCCCTGGTAGGAATGTAAACACGTCTCGATTATGTTAGTTATGATGTCTAAAGGTATACTGTCCAACTCTTAAGCACTTTATATGAGAACACTACACCAAGATGAATCAGCACATTCAGCACATGTGAGAAATCAAGTATTTTCTTTTTATTTTTATAAATCTTAGTGGTTTTTTTTTTTCCGGCTCAGACTGTCCAAGACAAACTCCACTACTCGCATATCCCCAGTTGTTTGTGGTAGGTTGATGTAAATATGGCCACAATACTGTTAGACTTCACCTCCAGATACTTTATTGAACAACTGGTTTACTTCTAGCACCAAAGGGAAGAAGAAGGGGGTCCAGTGATGGTGATATCTTAGCTTGCTTCTTTGTTCACAGGCACTATTGACCACATGAACATACAGGTACTCAAATACAGGAGGCTTCTATTTGGCTCCTCCAAGGGAGGAGTTCCTCCAAGGGAAAAAAGGGGATGGTATTCTTTTAATCAAAGACCATGGTGGATGGATGGTAAGGGCAACAGAATGCAATTCTTTTGTGTGGTCTGACGTTAACACTTCGGAAAAAATTCTAAGTCAAGTTGAAATCGCCATTCTCTCAAGAGAGAAACATCAAGAGAGAAACATCAAGTGACCCCACTATGTGCCTAGAGAAGGAAAAGGGTCAAGTCCTATACTAGGTTCCTTACTTAGGGTAGAACCTACTAGTCCCTTGTTAATCCTTTCTGGGATTATACCTGTGACTAATTTTTTTTTTTTTAACTATGTCTTACGACAAAGCACAGTCCTGGGAAACCAGTCAACTTAATTATTGCTTGTCTTTGAGCATTAGAGACATGTTCATATTGACTTGCTACATAACACTGTAGCATGTTTTTTCCTGAAAATATCAAGTTGGTTGAATGGAAAGCTCAGCAAAGTATGTTCTGTGTGCCCACTGTCCCAGCCTGGGACTGACGGGCATCAGAGGCTTTGCTTTAAAATATGGGTAACCAGTTCTGGAAGACTTCCAACGCAAGCAAGCTTGGTGTTTTAGGGTGTCTCCAGATACATAAGCATTGTCTGCCTCCGCTCAGGGTCTCAGGAAATACACAGCCCATTGGAAACCACCCACGCCTGAGATTTGGAAACCTGACGGAAAGGGAGGAAGGTCCAAATGAGTCAGCAGCAGGATGACTCACCACAAGCCTGGCAGGCTGCAGAGCCAGAGAAGGGGGCTTCCAACAAGGAACTCAGAGAAGTTGCAGTCACCACCAAGATCTGGCCCTTCGGCAGGTCAGCACCAGGACTGCCAGGCCCTCTGCAGACCGTAATTCTCTTCACATCTATAATTAGGAGGCCAAACTCCAGCTGCCAACACCCTTGGACACAATATTCCAGTCTCCACTGCCCATCTCATGTGGTTCAGTTCTAATAGCAGGTCTTCTTCTTCCTTTCATTCCTTCCTTTATTCAGCAAGCATTTGTTGAGCATCTACTATGTGCCAAGCATTGTGCTTGGGCAACAACAGTCCACAAAGCAGACTCCCCACCTGCCCTTATGAAACTGTATCTCCTCCTCCCCAACATTATCACCACCCCACCATTTCCACAATGAAAACTGAATTCAGACAGCATTCTCCATTCTGCCAGAGTAACCTAGGAAGAAGAACATGGCAGCAGACGGATCCTCAGGGAGGAGGCAGCAGAGTGACAGATGGTAAACTGCATCAGGCCACATATTTGCACCTTTCAGATACAGCCAACTCTTCCAGGGCCTAGACTGAGCTGGTTGGAGCTCCCCAAAGCAGCATTCAGTTGCTTTTCCTTGATATCCACCCTGGCTACCTATATTCCCTTTCTTTATATAGGCACAACCATTCACCACTACGCTGGATTATCTAACACTCCAATTCTATAACTCATCCAGGGGACACACAGTTGAGTCTGATGAAGCCTAAGAACTGCCAGGTGCTGAGATATTGTAACTGGGAATTAAGATTTAGCCAAGGACATTGTGAGACTACTGCTGACTCTCTTGGAAAACTGGACATGCTTTGTAGTGCAAATGTTCACTAAATGATGGTGGTTCATTGTTACTTACTTTGGCCTTTGCAAAATATTCTGAACAATTCAATAAGTAGAGTTTCCTAGTTTGTTTGTTTTTTTAAGTCAAAGGAACGCTGTGAAATTATTGAAAGATGATGGGTGAAGAGGGACCTAGGAGAAGGCAAAATGAAGACCATTAAAGAGCCCCATTGAAGACTGTATCTCTAAAAATGCCTTAATGCCTGGCACATATTCCATATTTGCATATGAACTACTATTCTTTTCCAAACTGTCAACTTCTGTTTGAAATCATTGTGGGGGATAGTTTGGAAATATGGTGGCATAAAATCCAAGCAGTCAAGAGCTAAACCAGCAAAAAAGAGGAATGACTTCATTCACAGGCTTTGGCTTCTTTATTATGTGGTGGTCCTCTGTGATCTCCCATGGTTAACTTCAACTGTGCTGTACTTTCTTCCCAAGATGCATGTACGGAATGTTACCTCCTAGAAATCCAGAAATAGTTGTGGTGAGTTTTGTTTGATAGGAAGCAAGAGGTGGGGAAGTAAAGGATACATATTTTTATGTCTAAGGACTGTAAACTGTTGATGCTTGACTTTTCCTTTTACCTACACCTGTGCTACACCTTTATTAAAAGGCTGACACCCAGACTTGTGCAGGAAAGGCACTCTTGGGAATGAACAGAAATGAATAATTATGAGACTTTCCATGGTGCCAAGGGGATTCGCTTATTTCCACTCCAGAACTGAATATGCAGAGCATTGCCAGTCCTGCTAGTGTGAAAAGCAAATTACTTCAATAGTTTGAGACGTACCTAGGGGAAGAGAGATCCTATCAACTTTCTTTGCGGGTAGTGGCGTACCTTCAAATCCTTGCTCAGGCTCTGTGAGGTGTGCACCCGCAGATTTCACTTCTACCTCCGGAATCCTGGCAAACAAGCCAGGAATCTCTCCAGAGTCACTTCGCAGTTGCTCAGAAAGAGGCTAACGGTCCTTAGTCCTGAGGAAATTCTGCCATTTTTAACATTCAAGGAGAAAAGGCGTATCAGCTGTACGTGAGAATATCAACTAAGGATAAAAACCTCTAATGGATCCCCCTTGTTACTTGCAAATGCTTTCTTTGTCTGCAAATGTCACATAATTGATTTTGCATAGGAACAACAAAAGTCTCAAGGAATTGAAGTTTTTAATACCCCCCTTAGCACTTTACTTTCACCAAAACCTCCTCTTTCTAGTACATGAGCAGTTTTGTTCTTTGTGATGTTTTCCTCTACATTCTTTAGAATAATTTTGTTACTTGACAACTAGACTTGTCAATCGTCTTAGACTCTTTTGAAAAATCTAATCTTTGAAAATGACACAAATTCCTTTATTGCTTTAAGGCTGTTTTCATTCACCCCTCCCACAGCCCCCTCCACTGCACTTTTTTGTTTTTTGCGGGGATTTTTTTCTTTCATCTCTCTTCTTTTAACATGATGCTGTGGGTAGTTTTCAAGAATTCTATAAAGAACTCAACAAAAAGTGTATTTGTTACCTTTTTCCCCAGTCCTAATATTTCTTCTTAAGCTTGATCTTGGTGAAAATTTGTTGCCCAAAAAGCAGTGAGGTAGGGATTAATAACGCTGACCAGTCATCTGGAAGATTAATTAATCCCAGTGCAGCCCTGAGATCAGGAAGGAGGACAGGCCAGGAGATGTTTCTACTCCAGGCACCACTAAGGACTCTATTTCAAAGGCAGATCCTGCTCCTTAGTCTTTTTAGATCTGAATCTAATCCTGAATCCAGAAAATTATCCTATGAATTCTGGTTTATCAACGCACATGATTCCTGGCACCATTGCATAGCTTCAAGGTAAAAGAGAGCCTTGTTTCCATTATTTTGCTATGGTGGCTTTTGGGAAGACAGAGAGCATTCTTTTGAAAGCGGGAAACTTAAGGAAAAGTTGGCCAAGTACACAGGAAAGTTCTACCACACCTTAATATAAAGAACAAAATAGATGCTTCTCATTTGGGGAAAGTAGCTAAAAGGACAGTAACAGTACTGATGGCCTTCTGTCCATCACCTTAGCTCCACAGGGAAAATTCTGGGTGAGAGCAAGCACTGTTTCTAAAATCTAAATTTTTTCAGGTGAAATTTACCAGCAACAAATGTAAAAGGGAACTGCCATCAGGCATAGGGCTAGTTTTATACTTCCTGCCTAACGGCAAAATGACTGAGACATGACTTCCATGGAACAGCAGAAAATGGATGCCAAAGATATCATAAAACTGAAGTTCAATTTGCCACGTAAGGCTATTTAAAAACCCTGATGCACTCCAAGCATTCTTCCTTCAGAGCTTTCCTCCTACAATTATATCAAGCACAAGAAGGCACCAACAGCATATACTTAATGTAATGTAAAAGTAAACATATGACTTGTGTTGAATTACCATTGGCTGGTTGACATAATAAGTGTCATAGATATTTAGACATTATTTCTGATCATACAAAATTATTTTCATAATTTCATATTCTTTTCAATTTTCATAAATTCTTTTCAATTTTCATAAATTGGAGCCAATGGTTTGGGAGGTTTTTTGTTTGTTTGTTTGTTTGGTTGGTTGGTTATTTGTTGCGTTGTTGTTTTCCAAACCTCAGATATTTTGAGAAGCCTTAGAAAGGCTCTTAAGCCCAGGCCTTTTTGCCTCATGTGCAGAGTATTAATAACAGCCCTACTGATGTGAACCTCAAGGAAGGAGGCTATTAAATTAATCCATCACTGGAGATACTAATACCTCAAACAATTAAAACACTGAAGACTCTGCTGGTTGCCTTCCACATTGTTTATAACCTTTTTAAATTCAGTCATTTGGATCAAGAGAAATAAATGGTTGGTTTCATATGGCTTTTGCCACATTAGCACAGACACATCTACCAAATGTAGAAGTCCAGACTGAGTGGATGCATGAGAGCAAACAGATCTGTAATATGATTGCATTTAATCACCGCCACCGCCCAAATTCTGTAAAAATATATTCAAATATGTAATGCTAAAAAAAATGCAAAACAGGAGACTCTTACTAGATCATGCTTTCACTTAGGGTAGGATAACTGATCTTGAAGATAACTTCATAGAAAAATTTGCTGGCTGAAATGCCCCAGGCACCTCAGGGTTGGTCCTGTCCTATTCCACAAACTGATCATGGTCTTCTCCCATCTTCTCAGAGGAGTTAGCCTTGCCTCTAAAATAGCAAAAATGCCATGAAATTATCTTTCTAACCTCTATAGAGACTTCTTATCCAAGTATAATTCCAAAAATATGATTTGAGTTTGAGCATGCCTGTGGTCCTTGATTCTATGATCCCTAAATCAGTTCTACTTTTCTCACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATATATATATATATATATATATATATATATAATCTCCAGTATTTTTTTTCAACCACAATTTAGTGCATTTAGCGTGTTAATGTTGGGAACTGCCTGCTGGCTCTATGTCTACTTTTGACAATGCTTATGTCCAGATACCATACAGTGCATTTGAGAGAGGACCAAGGTTATGTTTTCCCACATACCAGCTGCTGCAGAGGTTTCGAAGTGCCTGACCCAGTTCTTTTTCACATCAAAAAGGCCTTCGGTTGCAGATGGAAACCTTAAAGATGAATGTAGAGTGGGGTAGGAAATTCATGTTTGAATGCTGAAACCCTTGTCTTTTTTAGTTTTATTCAATTCCCACCTCAGATCACCAGAAAGGGAGGCCTCTTTGGTGGGTGTTGGCCCTCACTGGGGGTAAAAGGGGTTCTATTTGCTTAAACTCATGCTCGTAGGCAATTTTAGGGCTCTCTGGGGCTCTGAATGGTTTCTCCACCACCACCTTTCTTCCACCAATAGAAAGATGTTGTCCTTACAAGGCCATGTCTGAGAAGACCATGGTTTAACTAGTAAAAGAAGCTCACATTGCAGAGAGCTGAATAATACCAGGCTCTTGACTTTGTACTGTGTGTCACAGTCATGATTGGGACAGAAGGAACCAGTCTGCTGAAAAGTCAAGCCAGCACAAATATTTGGAAACTAATTCCACTGAAACTCTTGTATCATTAAATCATACTATTGTAGTTTCAGTTAATGTAATTATTTAATATCAGGCACTAAATTAAATAGCTTTGCACAAAATTTTAGAAAAGATCAATCTTGTAACAAAATTTAATATTAACAGTAAAAAGCACCTGAGAAAAGAAAATATCGATCTGTTGTGGTTTATATACTTGAGTTATTCTTAGAACTTTGTGGAGATTGACACTGCTCTGATAAAAAGGAAGAAAATGTTTTGAATTCAAGAATGCTAGACTAATAGAAATAGCCCAGTCTCTCTGGGCCACTGCTCTTCAGTATGGGGTGCTCTCTGTCCCTCCTTAGCAGATGGGGTTGTTTGGAGGCTAAAATGAGCTAAGGGAAGAAGCTATACTGTGCCTCCAATATCCCTTATGTGTAATTAGAGTGCCGATCTGGGCTGCAGGCTTTATTCAATGATTCCTTTCCCTTACTTGAGGCTTTCTCTGTAGAGCTGTTATTTCTGAGCCTCCATTCTGGGATTTACAAAGGAAACAGAATGATGAAGAAGTAACAATCAGCATTTTACACACACGCACACACACACACACACACACACTTTTTCTAATATATGAGGCTAGTCTGCAGAGTCCACAGCCCAGGTGTCCATTTATTTCCACTTCTTCACCTCCCAAAGATTTAGAGCTCCATGATCTACCAAGGTGAAGACTGCCAATCCCAGGTTGGAGAAGACCCGTCAGAGTGTGGAGGTGCCAAACTGAGAGGCACAGGAAGCAGACAGCCACATCAAACTTTTTTGATGAACTACTGCAAATTGGTGTTTGTTCTAGGAAAGAAAGAGGAAGAAAAATTACACAATGTGAATTGAACATAAGAGCAGTGCTCTTTACAGAGTATGAGAAGGGAGGATGGGGGAGAATCTGATTAAAAAAATGATTCATTCCTTCACAGACACTAACAAACATGGCTAAAAAGCACATGTCAGAACACAGAAGCCTAGGTAGATGGTTGACATTTTTATAACTTCCTTAAGTGAGTAGTTAAACCAGCAGTCTTAATTCTGTTGGTCTTCCAAGAGTGTTTAATTACATAAGTATTACCTGTATTCATTTCCCACAACTGTTGGGTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTCCTCTGTGCATCCTAGAAAAACTCCCAGGACTAGACTTAGGAGGAGGCAATCAAGTTATGTGGTAAAACAAGAGTGCCTTTTCTGTTGGATATCCACTTTAGTTTCCTGGCTTCCAGGGCATAAGATGTTTAGAAACTTTTTTTCTCTAAACATAAGAATTATTGTGTACCACAATTTTGAACCACCGATTTCCATATCTTCAGCAGCTATCAACTTGCCAATTCCCTTTGGGTCTCCTTTGTATATTCTTATGTTTCCTTCTGTTTCCAGTTGTCCTCAAAAAGAGTTGAGGGGGGCATGACTCTTATAAAATGGATAAAAATGAAACTGTACAGATGTTTGCCTCCCTTGTATCTGTGAGCATGATCTCTATCAGGCTGGAAAATCTGCTTTATCATTTTGTATATTTGACTATTTTGTATTCAGCATTACTTGACTCCTTATGTGCATGGCAATGTATTAAAATGTGGGATTTCTATTACCGTGTAAAA)$ MQKMIPASQRAVTSPGQALSTVVKPLLQNTVDKILEALQRVFPHAEFRTNKTLDSDISCPLLESDLAYSDDDVPSVYENGLSQKSSHKAKDNFNFLHLNRNACYQPMSFRPRILIVGEPGFGQGSHLAPAVIHALEKFTVYTLDIPVLFGVSTTSPEETCAQVIREAKRTAPSIVYVPHIHVWWEIVGPTLKATFTTLLQNIPSFAPVLLLATSDKPHSALPEEVQELFIRDYGEIFNVQLPDKEERTKFFEDLILKQAAKPPISKKKAVLQALEVLPVAPPPEPRSLTAEEVKRLEEQEEDTFRELRIFLRNVTHRLAIDKRFRVFTKPVDPDEVPDYVTVIKQPMDLSSVISKIDLHKYLTVKDYLRDIDLICSNALEYNPDRDPGDRLIRHRACALRDTAYAIIKEELDEDFEQLCEEIQESRKKR|gRALLRLTDKKLERMGIAQENLRQHILQQVLQLKVREEVRNLQLLTQASSEGSP* 11BR073 ENSG00000066827.16 ENSG00000109255.11 -/- -/- chr8:134712845 chr4:55630460 CDS/splice-site CDS/splice-site translocation 1 2 1 18 6 high in-frame . |Neuromedin_U(100%) . . ENSG00000066827.16 ENSG00000109255.11 ENST00000377838.8 ENST00000511469.5 upstream downstream . ^(ATCCGCCATGTTGGATGC)CGCAGATTCGCCATAACCTCGCCGGCTCTTTTCTTAAAAAAATAAAAATAAAAAGCGAAGCGTCAGCAGGGCGCCCCGCCCCCTCGGTCGGCACGGGAGGGGGCCCGGAAGAGCCCGAGG?TTTTTTTTCCTCCGCGGTGGGGCGTTGCCATGGAGACGCGGGCGGCAG|GTGCTCCAATATTACCTCAAGGATTACAGCCTGAACAACAGCTACAGTTGTGGAATGAG___GCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAG___GAACAAGATGAAAAAGATAATACTAAAAtG___TTaTTATTTCATTATTCGAAGACACAGAAGTTGGGCAAGTCAAATGTTGTG___GAAGAATTCCAAAGTCCCTTTGCAAGTCAAAG(TCGAGGATATTTTTTATTCAGG___CCACGGAATGGAAGAAGGTCAGCAGGGTTCATTTAAAATG___GATGCCAGCTAATTTTCCACAGAGCAATGCTATGGAATACAAAATGTACTGACATTTTGTTTTCTTCTGAAAAAAATCCTTGCTAAATGTACTCTGTTGAAAATCCCTGTGTTGTCAATGTTCTCAGTTGTAACAATGTTGTAAATGTTCAATTTGTTGAAAATTAAAAAATCTAAAAATATT)$ METRAA|gAPILPQGLQPEQQLQLWNEASNALEELCFMIMGMLPKPQEQDEKDNTKmlLFHYSKTQKLGKSNVVEEFQSPFASQSRGYFLFRPRNGRRSAGFI* 11BR073 ENSG00000182831.12 ENSG00000196670.13 +/+ -/- chr16:9093001 chr5:180851493 CDS/splice-site CDS/splice-site translocation 1 3 0 57 37 high out-of-frame . |C2H2-type_zinc_finger(100%),Zinc_finger__C2H2_type(100%) . . ENSG00000182831.12 ENSG00000196670.13 ENST00000327827.12 ENST00000502412.1 downstream downstream duplicates(1) ^(GCTCAGTCTTGGGGTGGGCTCCGCGGTGCAGGCCGAGCTGCGCGGAGGGCTCGGCGATCAGCGGCGGCGGCGGCAGTGGGGAGGCCGCAGCGCCATGGGGGGGCGTTAGACAGGCTGCGGCGGCCGAGGCGAGGGGCGGCAGCGGTTATCTGGTCCGCGGCGACCTTCGGCCGGGCCCGGGGGTGGGAAGGCCTGGGGCGGGGGTCGTCCCTGGTTGCACGGGGCCGCGGGGCGGGGCTCGCCGGCCGTCGGGGTGCAGGAGGCCTGGGCCGCTGAAAGGAGAAGGCGCCGTCGGTCGCCAGGCCCTGCCGCCGGGCCGCTTGACGACGACGCTCCCGCGGGGGCCCCGCCTGAGGAGGACGCGGCGGCGGTGGCGGCGAGGCCGCGGGAGGCCGCGGAGGATGGAGGAGCGGAAGGAGGAGGGCGAGGCCGAGATCCAGGAGCACGGGCCCGAGCACTGGTTCTCCAAGTGGGAGCGGCAGTGCCTGGCCGAGGCCGAACAGGACGAGCAGCTGCCCCCCGAGCTGCAGGAGGAGGCGGCGGCCGCCGCGCAGCCCGAGCACAAGCAGCAGAAGCTGTGGCACCTCTTCCAGAACTCGGCCACCGCCGTGGCCCAGCTCTACAAAG___ACCGAGTGTGTCAGCA)GCCAGGACTTTCTCTCTGGGTCCCCTTCCAAAACGCAGCCACCGCCGTCACCAATCTCTACAAAG|TGTCACATTTGAAGACGAGCACTGAGGATGAGGAACCAACTGAAGAATATGAAAATGTTGGAAATGCAGCATCTAAGTGGCCAAAAGTGGAGGATCCTATcCCTGAATCTAAGGTTGGTGACACATGTGTTTGGGATAGCAAGG(TAGAGAATCAACAGAAAAAGCCTGTGGAAAACAGGATGAAGGAGGACAAAAGCAGCATCAGGGAAGCAATCAGCAAAGCCAAGAGTACAGCAAATATAAAGACAGAACAGGAAGGTGAGGCATCTGAGAAGAGCTTGCATCTGAGCCCACAGCATATCACACACCAGACTATGCCTATAGGACAGAGAGGCAGTGAGCAAGGCAAACGTGTGGAGAACATTAATGGAACCTCCTACCCTAGTCTACAGCAGAAAACCAATGCTGTTAAGAAATTACATAAATGTGATGAATGTGGGAAATCCTTCAAATATAATTCCCGCCTTGTTCAACATAAAATTATGCACACTGGGGAAAAGCGCTATGAATGTGATGACTGTGGAGGGACTTTCCGGAGCAGCTCGAGCCTTCGGGTCCACAAACGGATCCACACTGGGGAGAAGCCGTACAAGTGTGAGGAATGTGGGAAAGCCTACATGTCCTACTCCAGCCTTATAAACCACAAAAGCACCCATTCTGGGGAGAAGAACTGTAAATGTGATGAATGTGGAAAATCCTTCAATTATAGCTCTGTTCTGGACCAGCATAAAAGGATCCACACTGGGGAGAAGCCCTATGAATGTGGTGAGTGTGGGAAGGCCTTCAGGAACAGCTCTGGGCTCAGAGTCCACAAAAGGATCCACACGGGGGAGAAGCCCTATGAATGCGACATCTGTGGGAAAACCTTCAGTAACAGCTCTGGCCTTAGGGTCCATAAAAGGATCCACACAGGTGAGAAACCTTACGAATGTGATGAGTGTGGGAAGGCCTTCATTACTTGTAGAACACTTCTCAACCATAAAAGCATCCACTTTGGAGATAAACCCTATAAATGTGATGAGTGTGAGAAATCTTTTAATTATAGCTCTCTTCTCATTCAGCATAAAGTCATCCACACTGGAGAGAAACCTTATGAATGTGATGAATGTGGGAAGGCTTTCAGGAACAGCTCAGGCCTCATAGTGCATAAAAGGATCCACACAGGAGAGAAACCTTACAAGTGTGATGTCTGTGGCAAAGCATTCAGCTATAGCTCAGGCCTCGCAGTCCATAAAAGCATTCACCCTGGGAAGAAAGCCCATGAATGTAAGGAGTGTGGGAAATCCTTTAGTTATAACTCACTACTTCTTCAACACAGAACTATTCATACCGGAGAGAGACCTTATGTATGTGATGTGTGTGGGAAAACGTTCAGAAACAATGCAGGCCTCAAAGTCCACAGGAGGCTCCATACTGGGGAAAAACCATATAAGTGTGATGTGTGTGGGAAAGCCTATATCTCACGCTCTAGCCTTAAAAATCACAAAGGAATCCACCTTGGGGAGAAGCCCTATAAATGTAGCTATTGTGAGAAATCCTTCAACTACAGCTCTGCCCTTGAACAGCATAAAAGGATTCATACCAGGGAAAAACCCTTTGGGTGTGATGAGTGTGGTAAAGCTTTCAGAAATAATTCTGGCCTTAAAGTACATAAACGAATCCACACTGGGGAACGACCTTACAAATGTGAAGAATGTGGGAAAGCATACATCTCTCTCTCGAGCCTTATAAATCATAAAAGTGTACACCCTGGGGAGAAGCCCTTTAAGTGTGACGAGTGTGAGAAGGCCTTCATCACATACCGAACCCTTACAAACCACAAAAAAGTTCATCTTGGGGAGAAGCCCTACAAATGTGATGTGTGTGAGAAATCTTTTAATTACACATCGCTCCTTTCTCAGCACAGAAGGGTCCACACTAGAGAGAAACCCTATGAATGTGACAGGTGTGAGAAGGTCTTCAGAAACAACTCAAGCCTTAAAGTTCATAAAAGAATCCATACTGGGGAGAGGCCCTATGAATGTGATGTGTGTGGAAAAGCCTACATCTCACACTCAAGCCTTATTAACCATAAGAGTACCCACCCTGGCAGGACACCCCATACATGTGATGAATGTGGAAAAGCTTTTTTCTCAAGCAGAACTCTTATAAGCCATAAAAGAGTCCATCTTGGGGAGAAACCCTTCAAGTGTGTTGAGTGTGGGAAATCTTTCAGTTACAGCTCTCTCCTTTCTCAGCACAAGAGGATCCACACAGGGGAGAAACCCTATGTGTGTGATAGGTGTGGGAAGGCCTTCAGGAACAGCTCAGGCCTCACAGTGCATAAAAGGATCCACACAGGTGAGAAACCCTATGAATGTGATGAGTGTGGGAAGGCATACATCTCACACTCAAGTCTTATCAATCATAAAAGTGTCCACCAGGGGAAGCAGCCCTATAATTGTGAGTGTGGGAAATCCTTCAATTATAGATCAGTCCTTGACCAGCACAAAAGGATCCACACTGGAAAGAAGCCATACCGATGTAATGAGTGTGGTAAGGCTTTTAATATCAGATCAAATCTCACCAAGCATAAAAGAACCCATACTGGAGAGGAATCTTTAAATGTGATATATGTGGGAAGTTATAGTGGCACATCCCAGAAGAGAACCTATGAGGGAGGGAATGCCCTGGATGGGGGCAGGATGAGGATGCCTCTGTAGCAGGCAGAGCTTACCAAGTCTCTCCGAACTCAAATGGAAGAAATACCTTATGAATGTAAGAATGTAGGGGGTCATGGCTTGTAATTTACACAGTGTAAATGAAACCATCCTAGAGGATTATGAGGAATCCTTTCTATGTGATTTTCAATCATAGCAAGCAAGAAAGGCTCCAGTGTCAAGGTAGTTCAGCTCTTACAGGATATAAAACAGTCCATACTTGAGAGAAAAACTTAGATCTGAGTGATGGAATGTGAAGCAAATCTTCAAAATCAGTAGACATTTCTGGACATAAAACACAGATGAGGAAAGGGCTTCAATTAGAAGTTACGTAATCACCATCAGAAAGTTCATGTTTGGTAAATTCTGTTACTAGAAATGTAGGAAATTCAGGTATAGCTTTGAATCCCAATTACACATTGGTCAGTGGGAAAACTAAGGGCCTCCAACAGGCAAATTCAGGGAGGATAGGTTTCAGGGAATATAAATTTATTTAATATTAGTGGTCTTTAAGTATAAACTTGATGTAATTGGTTTGGGAGGGGGCAGTGATGATGACTTCTGAAACAAAATTTGGATTTCCTTTTAGGAAAAGTAGAAAGCATAGACTTACAAGTCTAACAGGAGATAGGAGAGAGTCACTCATAAAAAATGCAA)$ MEERKEEGEAEIQEHGPEHWFSKWERQCLAEAEQDEQLPPELQEEAAAAAQPEHKQQKLWHLFQNSATAVAQLYKDRVCQQPGLSLWVPFQNAATAVTNLYK|vshlktstedeepteeyenvgnaaskwpkvedpipeskvgdtcvwdskvenqqkkpvenrmkedkssireaiskakstanikteqegeasekslhlspqhithqtmpigqrgseqgkrveningtsypslqqktnavkklhkcdecgksfkynsrlvqhkimhtgekryecddcggtfrsssslrvhkrihtgekpykceecgkaymsysslinhksthsgeknckcdecgksfnyssvldqhkrihtgekpyecgecgkafrnssglrvhkrihtgekpyecdicgktfsnssglrvhkrihtgekpyecdecgkafitcrtllnhksihfgdkpykcdeceksfnysslliqhkvihtgekpyecdecgkafrnssglivhkrihtgekpykcdvcgkafsyssglavhksihpgkkaheckecgksfsynslllqhrtihtgerpyvcdvcgktfrnnaglkvhrrlhtgekpykcdvcgkayisrsslknhkgihlgekpykcsyceksfnyssaleqhkrihtrekpfgcdecgkafrnnsglkvhkrihtgerpykceecgkayislsslinhksvhpgekpfkcdecekafityrtltnhkkvhlgekpykcdvceksfnytsllsqhrrvhtrekpyecdrcekvfrnnsslkvhkrihtgerpyecdvcgkayishsslinhksthpgrtphtcdecgkaffssrtlishkrvhlgekpfkcvecgksfsyssllsqhkrihtgekpyvcdrcgkafrnssgltvhkrihtgekpyecdecgkayishsslinhksvhqgkqpyncecgksfnyrsvldqhkrihtgkkpyrcnecgkafnirsnltkhkrthtgeeslnviyvgsysgtsqkrtyeggnaldggrmrmpl* 11BR073 ENSG00000114541.15 ENSG00000271024.1 -/- -/+ chr3:69249226 chr3:90261557 CDS/splice-site exon inversion/5'-5' 2 2 0 0 6 high out-of-frame . FERM_N-terminal_domain_(100%),FERM_central_domain(100%)| . . ENSG00000114541.15 ENSG00000271024.1 ENST00000398540.8 . upstream upstream mismatches(1) ^(AGCAGAAGCCGGCGTCGGGAGCCCAGGCGGGCAGGCCGCTGGGGTCGGGGCTGCACGTACGAGAGCCGGGACGCCCGGGTTCAGAGCGAAGGAGGAGGCATGGCTTCGGTGTTCATGTGTGGCGTGGAGGACCTGCTGTTCAGCGGCAGCCGCTTCGTATGGAACTTGACCGTGTCCACGCTGCGGAGATGGTACACGGAGAGGCTGCGGGCTTGCCACCAGGTGCTGCGGACGTGGTGCGGGCTGCAGGACGTGTACCAG___ATGACAGAAGGCAGGCACTGCCAGGTGCACCTCCTGGATGATAGGAGACTGGAGCTGCTGGTTCAG___CCCAAACTTCTAGCAAGAGAGTTGCTGGACCTAGTGGCTTCACATTTCAACCTGAAAGAAAAGGAGTATTTTGGAATAACATTCATAGATGACAC___AGGTCAGCAGAACTGGCTGCAGTTAGATCACCGAGTTCTTGACCACGATTTGCCCAAGAAACCAGGCCCAACCATTTTGCACTTTGCT)GTGAG___GTTTTACATTGAGAGCATATCGTTTTTAAAGGATAAAACCACCGTGGAGCTGTTTTTCCTGAATGCAAAGGCCTGTGTGCACAAG___GGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAG___GAAGCCAAGGGAGATTATACCAG|GGCCCAATCCAACAGTATTGCTTGCAATACTTTTCCTGAGAATTTTCTGGAAGCATAATGCCTTCTTTGGTTACG...TGGCTGCACTACTTTTAGCCAAACAACACTCGGTCAAAGAGCAGAAGAAACTTTCTACATGTTTGGTCTCCCATGACTGCCGCTGCCACAGCTCATACTCTGTTCTTGCACAACTGCCACGAGCTGATTTTAATTTTTGTAAAAGAAATTATGTGGTTGTGCAGTGGGTAAGGTCACTATCTTAAATAATTAGCTGTCCTTTACAAAATAAACCCATCCATCTAAGAGAATGGCTTTTGAAGCAGTCT MASVFMCGVEDLLFSGSRFVWNLTVSTLRRWYTERLRACHQVLRTWCGLQDVYQMTEGRHCQVHLLDDRRLELLVQPKLLARELLDLVASHFNLKEKEYFGITFIDDTGQQNWLQLDHRVLDHDLPKKPGPTILHFAVRFYIESISFLKDKTTVELFFLNAKACVHKGQIEVESETIFKLAAFILQEAKGDYTr|aqsnsiacntfpenflea* 11BR073 ENSG00000106615.10 ENSG00000090661.12 -/- +/+ chr7:151518514 chr19:8257980 intron CDS translocation 5 16 1 19 42 medium . . Ras_family(100%)|TLC_domain(58%) . . ENSG00000106615.10 ENSG00000090661.12 . ENST00000558331.5 upstream upstream duplicates(2) GTTGACATACATTTGAAACAGTTCCTAGCAGTCGCCTTATTGCTGAATAAGGTGGCTTAGGGTCGGGTTGGGGGGCGGACGGGGTGTTACAGAACGAGCGGTTTTCTGGCCTGTGTGAAACCAGAGCGATTGAACTTAGACACGCTTCAGGGTGAGGCTGTATTGTCTCCCGACA|CACCCA(___GATCCTCTACACCACATACTACGAGTCCATCAGCAACAGGGGCCCCTTCTTCGGCTACTACTTCTTCAACGGGCTTCTGATGTTGCTGCAGCTGCTGCACGTGTTCTGGTCTTGCCTCATTCTGCGCATGCTCTATAGCTTCATGAAGAAGGGCCAG___ATGGAGAAGGACATTCGTAGTGATGTAGAAGAATCAGACTCCAGTGAGGAGGCGGCGGCGGCCCAGGAACCTCTGCAGCTAAAGAACGGGGCAGCTGGAGGGCCCAGGCCAGCCCCCACTGATGGCCCTCGGAGCCGGGTGGCCGGGCGTCTGACCAACAGGCACACAACAGCCACATAGCCGGGCGGGGCTGGCTGTAAGGGGTTGCCCCCCCGCCAGTGCCTTGGATATTTCTGGGGTGACTGGACTGGCGCCCCTGGGCCACCTTTCTGGAGACAGGGAGGGCCCCACCCGGGGTGGGTGGGAAGGCTGATGATCTGTCTCCAGCCCCTTCCTTCTGCCCACCCACCCTTCTTCCCTCTGGGCAACTGGACAGATCTGGGAGCCAGCAGCTGGATGCTGTGGCTGGCCAGAGACACCTCCAGGCTGTGGCCTGGGGGCTGGGGGGAGCCCCAGGCTGAAAAGGGTCCAATTAAAACAAATGGAGCCAAA)$ . 11BR073 ENSG00000177156.11 ENSG00000234127.9 +/+ -/+ chr11:756002 chr6:30212149 CDS/splice-site intron translocation/5'-5' 0 16 0 268 38 medium out-of-frame . Transaldolase/Fructose-6-phosphate_aldolase(100%)| . . ENSG00000177156.11 ENSG00000234127.9 ENST00000528097.5 . downstream upstream duplicates(1) ^(TCCGCGCGCCCGTCCCGTCGCCGCCGCCGCCGCCGCAGACCCCTCGGTCTTGCTATGTCGAGCTCACCCGTGAAGCGTCAGAGGATGGAGTCCGCGCTGGACCAGCTCAAGCAGTTCACCACCGTGGTGGCCGACACGGGCGACTTC)CACG___CCATCGACGAGTACAAGCCCCAGGATGCTACCACCAACCCGTCCCTGATCCTGGCCGCAGCACAGATGCCCGCTTACCAGGAGCTGGTGGAGGAGGCGATTGCCTATGGCCGGAAGCTGGGCGG|TTACCCATAAGCCCAGTCTTAGGAGAAAAACATCAAATTCCAATAGAGGGGCATCCTACAACATACACGACCAGTATTCTTCAATGCTGTCAAGGTCATCAAAACAAGTCTGAGAAACTCCCACAGCCAAGAGGAGCATAAGGAGACATGACAACTAAATGTAATGTGGTAACCTCCATGGGATCATGAAACAGAAAAAGTACTGAGGTAAAAACTAAGGAAATCTGAACACACTATGGACTTTGGTCAATAATAATGTATTGATATTGGTTAACTGCAACAAATGTACCACACTGAGGTAAGATGTTAATAACAGGGGATCCGGTTTGGAGC MSSSPVKRQRMESALDQLKQFTTVVADTGDFHAIDEYKPQDATTNPSLILAAAQMPAYQELVEEAIAYGRKLGg|yp* 11BR073 ENSG00000198646.14 ENSG00000280441.3 -/- +/+ chr20:34825472 chr21:8450147 5'UTR/splice-site exon/splice-site translocation 0 10 0 1 91 medium . . . . . ENSG00000198646.14 ENSG00000280441.3 ENST00000359003.7 ENST00000651813.1 upstream upstream . ^(ATCCCCCTCCCCGCCGGCTCCGTGAGGCCCTGCCGGGTCGGGCTGCGGGCGGCCGGGCGCGGGCGGCGGGACAGACGGGCGCACGCGAGGACTGACGGACGGACGCACCGAGGGCGGCGGGCACGCAC)GGCCCGGGCCGGCGCTCCAAGGCCCGCCCGGGAGGGCCGGGGCCGCGCTCAG|GCGTCATCTCACGTGTCGAGGTGATCTCGAACTTTTAGGCTCCAGAGATCCTCCCGCATCGGCCTCCCGGAGTGCTGTGATGACACGCGTGGGCACG___ACGGAGTTTCACTCTTGTCGCCCAGGGTGGAGTACGATGGCGGCTCTCGGCTCACCGCACCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCGAGTAGCTGGAATGACAGAGAgGAGCCATCGTGCCCGGCTAATTTTTCTATTTTTACTACAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTTCAACTTCCGAC(CGTTGGAGAATCTTAACTTTCTTGGTGGTGGTTGTTTTCCTTTTTCTTTTTTTTCTTTTCTTTTCTTTCCTTCTCCTCCCCCCCCACCCCCCCTTGTCGTCGTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTTCATTTCTTTCAGCTGGGCTCTCCTACGTGTGTTGCTCTGTTGCTCACGCTGGTCTCAAACTCCTGGCCTTGACGCTTCTCCCGTCACATCCGCCGTCTGGTTGTTGAAATGAGCATCTCTCGTAAAATGGAAAAGATGAAAGAAATAAACACGAAGACGGAAAGCACGGTGTGAACGTTTCTCTTGCCGTCTCCCGGGGTGTACCTTGGACCCGGAAACACGGAGGGAGCTTGGCTGAGTGGGTTTTCGGTGCCGAAACCTCCCGAGGGCCTCCTTCCCTCTCCCCCTTGTCCCCGCTTCTCCCCCAGCCGAGGCTCCCACCGCCGCCCTGGCATTTTCCATAGGAGAGGTATGGGAGAGGACTGACACGCCTTCCAGATCTATATCCTGCCGGACGTCTCTGGCTCGGCGTGCCCCACCGGCTACCTGCCACCTTCCAGGGAGCTCTGAGGCGGATGCGACCCCCACCCCCCCGTCACGTCCCGCTACCCTCCCCCGGCTGGCCTTTGCCGGGCGACCCCAGGGGAACCGCGTTGATGCTGCCTTCGGATCCTCCGGCGAAGACTTCCACCGGATGCCCCGGGTGGGCCGGTTGGGATCAGACTGGACCACCCCGGACCGTGCTGTTCTTGGGG___CACACAGATGAGACGCACGAGAGGGAGAAACAGCTCAATAGATACCGCTGACCTTCATTTGTGGAATCCTCAGTCATCGACACACAAGACAG___ACGGAGTCTCGCTCTGGGCGGGGCGAGGCGAGGCGAGGCACAGCGCATCGCTTTGGAAGCCGCGGCAACGCCTTTCAAAGCCCCATTCGTATGCACAGAGCCTTATTCCCTTCCTGGAGTTGGAGCTGATGCCTTCCGTAGCCTTGGGCTTCTCTCCATTCGGAAGCTTTGACAGGCGCAACCCCACCCAGAGGCTGGCTGCGGCTGAGGATTAGGGG___GCTGCGGTGCGGTGGCGCTCTCTCGGCTCACTGAAACCTCTGCTTCCCGGGTTCCAGTGATTCTTCTTCGGTAGCTGGGATTACAGGCGCACACCATGACGGCCGGCTCATATTCCTATTTTCAGTAGAGACGGGGTTTCTCCACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAATGATCCGCCTTCCTGGGCCTCCCAAAGTGCTGGAAACGACAGGCCTGAGCCGCCGGGATTTCAGCCTTTAAAAGCGCGGGCCCTGCCACCTTTCGCTGTGGCCCTTACGCTCAGAATGACGTGTCCTCTCTGCCGTAGGTTGACTCCTTGAGTCCCCTAGGCCATTGCACTGTAGCCTGGGCAGCAAGAGCCAAACTCCGTCCCCCCACCTCCCCGCGCACATAATAACTAACTAACAAACTAACTAACTAACTAAACTAACTAAATAAATAAAATCTCTACACGTC)$ . 11BR073 ENSG00000257621.8 ENSG00000186469.8 -/- +/+ chr14:58291705 chr14:51920768 exon intron inversion 1 4 0 8 8 medium . . |GGL_domain(100%) . . ENSG00000257621.8 ENSG00000186469.8 ENST00000554360.5 . upstream upstream . ^(GTCGGCGCCATTTTGTCTCGGCAGCGGTGGCCGTAGCTCCATCGCATTTTATGTTTCTGGCGAGAAGGGAACGGAGTTTTCATCAGGTAGATTGGTTTTTGTGCGGCCGTCCTCCACCGTTTCCTCCAGGACAGCACCTAGTCGTGGCCGGAGGAGTCTCAGAGCTGTCAGAAAG___)AAT|GTGTTACTGCCAGTACAGATGTTGATCTTTCTCAACCAAGACATCATGAATTTCCATAGCCCCAATAAATTGCAACTGTTGGGGCCATGGAAACATGGGAGCTGGGCTGCTTAGGAGAACCTGAGTTCTTTGGGTGGGGTGAAGGGTGTGGTGTTTACACATTTCATTAGGATTAGAG . 11BR073 ENSG00000139180.11 ENSG00000111254.8 +/+ -/+ chr12:4649175 chr12:4641100 CDS/splice-site intron duplication/5'-5' 0 4 0 145 9 medium out-of-frame . . . . ENSG00000139180.11 ENSG00000111254.8 ENST00000266544.10 . downstream upstream . ^(AT)TGTGGGAAAAGATGGCGGCTGCCGCACAATCCCGGGTTGTCCGGGTCCTGTCAATGTCAC|TCTCACTCTGTTGGCCAGGTTGGAGTGTACAGGCGtGATCTCGGCTCACTGCAACATCTGCCTCCCAGGATGCTCACCGCAACCTCCGCCTTCCCAGGGAGTATCTAATTCCTTTAGATATTCCAGCCCTGCTAACATCCTGGAAGCTGTGAAGTTTTCCCATGGCCAATGGCCAATAGAAGGATTGGATTAAAATGTTCCTCAAAAATGTTCATGTGATGATTACCTGCCTCAGCCTCCCAAGTAGTTGGGACTACA MAAAAQSRVVRVLSMS|lslcwpgwsvqa* 11BR073 ENSG00000255639.3 ENSG00000111254.8 +/+ -/+ chr12:4649175 chr12:4641100 CDS/splice-site intron duplication/5'-5' 0 4 0 145 9 medium out-of-frame . . . . ENSG00000255639.3 ENSG00000111254.8 ENST00000648836.1 . downstream upstream . ^(GCTGTCGTGGGGGAT)TGTGGGAAAAGATGGCGGCTGCCGCACAATCCCGGGTTGTCCGGGTCCTGTCAATGTCAC|TCTCACTCTGTTGGCCAGGTTGGAGTGTACAGGCGtGATCTCGGCTCACTGCAACATCTGCCTCCCAGGATGCTCACCGCAACCTCCGCCTTCCCAGGGAGTATCTAATTCCTTTAGATATTCCAGCCCTGCTAACATCCTGGAAGCTGTGAAGTTTTCCCATGGCCAATGGCCAATAGAAGGATTGGATTAAAATGTTCCTCAAAAATGTTCATGTGATGATTACCTGCCTCAGCCTCCCAAGTAGTTGGGACTACA MAAAAQSRVVRVLSMS|lslcwpgwsvqa* 11BR073 ENSG00000141560.15 ENSG00000185813.11 +/+ -/+ chr17:82716896 chr17:81910607 CDS/splice-site intron duplication/5'-5' 0 3 0 48 12 medium out-of-frame . Fructosamine_kinase(100%)| . . ENSG00000141560.15 ENSG00000185813.11 ENST00000269373.11 . downstream upstream . ^(CTCTCGAGTCTCCGCCAGATCCGGGGCGGGTCCGCGGCCGCGGCGGGAACATGGAGGAGCTCCTGAGGCGCGAGCTGGGCTGCAGCTCTGTCAGGGCCAC)GGGCCACTCGGGGGGCGGGTGCATCAGCCAGGGCCGGAGCTACGACACGGATCAAGGACGAGTGTTCGTGAAAGTGAACCCCAAGGCGGAG|AGGTGACTCGGACACAGAAGACAAGGCCCTGCTTGCTCTCCTGGGAAGGGCTAATCAGATAGAGGCGCTTGCTTCCTGGATTCCATCCGGCAGGCACGTGAAAGGGTCAGAGGTAGCAAATTATCAGTAACGGTCGTCTTCCTTTCACTTGTTGACAAC MEELLRRELGCSSVRATGHSGGGCISQGRSYDTDQGRVFVKVNPKAE|r* 11BR073 ENSG00000176209.11 ENSG00000126785.13 +/- +/+ chr8:42541538 chr14:63269110 intron CDS/splice-site translocation/3'-3' 2 0 0 18 19 medium . . |Ras_family(100%) . . ENSG00000176209.11 ENSG00000126785.13 . ENST00000316754.8 upstream upstream . GCTGCTCCGCTCCGGGGCTCTTTACCCCGGAGTCGGGGCCGGGCGCGCGGGAAACGGTTACCGAGCGGACCTGGACGCCCTCTGCCTTCGTCATTTCCTGCCGGCCGGTCGGTTTCCGGATGAAACGAGGAGCCAG|TTACTGTGACTGTGGGAGGCAAGCAACACTTGCTtGGACTGTATGACACCGCGGGACAG(___GAGGACTACAACCAGCTGAGGCCACTCTCCTACCCCAACACGGATGTGTTTTTGATCTGCTTCTCTGTCGTAAACCCTGCCTCTTACCACAATGTCCAGGAGGAATGGGTCCCCGAGCTCAAGGACTGCATGCCTCACGTGCCTTATGTCCTCATAGGGACCCAG___ATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCG___ATCGGAGCACAGTGCTACTTGGAATGTTCAGCTCTGACTCAGAAAGGTCTCAAAGCGGTTTTTGATGAAGCAATCCTCACCATTTTCCACCCCAAGAAAAAGAAGAAACGCTGTTCTGAGGGTCACAGCTGCTGTTCAATTATCTGAGGTTGTCTGGGACCTGCCTCCACCCCATCCAGGGATGAGAATGGCAGCCAATCTCTGTGGCCAAGCTCCAGCCAAAAAGGAGGGCACGACCAGAAAGGAACTCCCTTTGCACGGAGGCTTGCCCCATCACCCTCTGAGCCCTCCCAACACAGCACACTAGTCAGCCCACTGCCACGACCTCCCTGCCAGCCAGAAGCATCCGTACTGCACGCTGTCTGAGAATGCTGGGCCTGGATTGCAGACAGTGCCGCTGCTGATCGCATCAAAAACAAAGTCAAAGGCCATCTCACATTTTACAAATCCCCAGCTCATGAACGTGAAGCTGATAGGAAATCACCCCAGGGAACCCGAAAAAGAAACTTGATTCCTCTATTGCTGGCCTTACTTGATGTCTTTTATAAAACTTGGGACTACAATACTAACCTTTTTTTCTGAATCTGCTGTTCTACCCATGTGTCTCACATTCATTTGTATTATTTCAAGAAATGTACTAATTTCCAGTTCACTCAGGCCTTACTAATCCATACCAAATTAGCCTAAAGACAAGGCATTTTATATTCATTTCTATTTTCAGCATGTTTCTACCAAAGCTATTAGAACCAACACGTACCTCTGAATGCCCGATTATAAGAAGACATGAGAAGACTTTAAAAGTTTTGGAAATTTACAGAGCCATGATTTTTGAACCTAATTGAAAGAAAACCATCTGAATTGTTGCAGGTCCACATTTTTGCCAAAGATACACTCTATAGATGCTTAGTAGTGGCCTGATTTTTTTCCATGTATTGCCACGACAAACTAAAAATGAACTGTGTTTAAGAATGTAGTATTTCTGTTTTTCATCCAAGTTGATTGGGGGAAGAATATGGCAGGATCCATCTTTTACAGTATTTTGTATTCAGTAAAGTGGACATTCCTGCTCCTCCCTTCCCCCATTGCATGCCCTCTTCCTCCCTTGATTTCACTTTCTCTCATGCCCGGATCCTTTTATTCTCCCCAGTTATAACCCAGTTATAAAAGAAAGATCTGAGCATAAAGATACGTGTTTAAAAATAACTAAAAGTAAAGGAAAGTGCCTTAATTTTTCTATTTGCTTCAACTGAAAGTGCTTCTCAGCTCGCCCCATGTAAGTTCTCATTCCATGTAAATGACATTTTCCAGTTACAACTGGTACTGAGATTTTGCCTCTCTCTTTCCTTACTCATCCTCCCAAATGTCTTTGTGGGAGCCATATCAGTGGATACCAAGCTCTGTATCCATTTGTCCCCTGCCCTCCACAATGTGTGACATAGAACAGGGACTTTGGCCCTGGGAAAGCAAAAGCTCCCAGTAAGGAATCCTGTGCCCAATGATGTAAAACAATTCCAAACATCCAGGAATTTTTGTATCATAGAGCGAATTACTTCCTATCTTTTCATTAGAGGCTATGAGGACTTCTAATTAGTCTTAGTTGCTTATAAGTGCCCTGGAATCACCCAGGTAGGCACTTAATTTTTTTTTCAGTTGCATGAGCAAAGTGCTTCTTAGTAGTGTGAAATTACAACAACTTTAAGACTTTCCAGATTCAAGCTCCCACTGTTGGAAAAAGCCAGCCTTTCTAATCTCTTCTGCTACTGGAATAAGCACTTAAGAATTGCGTGATAGCCAGGCACCGTGGCTCATGCCTGTAATCCCAACACTTAGGGAGGCTGAGGTGGGTGGGCCGCTTGAGCTCAGGAGTTCAAGACCAGCCTGGGTAATATAGTGAGATCCTGTGTCTCTATAAAAAAATTAAAAATTAGTCAGTTGTAGTGACACATACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAGAAGGTAAGGCTGCAGTGAGCTGTGACTGTGCCACTACACTCCAGCCTGAGTGACAGAGAAAGAACCTGTCAAAAAAAAAAAAAAAACAACCTACATTTCAAGTACTATTTCCCTTCTCTCCCATCTAATTGCTAAAGATTTTCTTTCATACGCACACACTCCAGTGACTGGAAAAACGGGAGTTTTCAGTCAAAGCTTGACATTTAGAGAAAACAAGGACTTTCTGCCTTTATAAATGGAAATCAACTGTGTATGAACTATAACTCTGCAGAGGTTATGAATTCATCCTTTACAAACAATAATGAACTTTTAGTCCTGTAATAAATGAAATGTTATTAGGCAGCTTTGTTGCATGATTGCATAGTTATATCTTGCTAACGGGCCACTCATTTCTCACTGATGTGGATGAAAAAATGAGAGCAGTATGTTTCCAGGTGTGTGCACTCAACAGGCAAATAGCTCCCGAGGTCACCACTTCCCTAATGGGCCACAGGAAGTAAGTTGATCTTGATGGGGAGATCACGTCACCCAGAACCAGCAACTGGATAGAGACTGTTGTTAGTGTCTGGGTAGAGCACAGGCTCCCAGGGGTCTTAAGAGCTAATTACTGAATAAAACAATCTAGAACAAA)$ . 11BR073 ENSG00000183049.12 ENSG00000279928.2 +/+ +/+ chr10:12349910 chr1:182529 CDS/splice-site intron translocation 0 2 0 4 7 medium out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000183049.12 ENSG00000279928.2 ENST00000619168.4 ENST00000624431.2 downstream upstream . ^(GGAGGAGGCGCGAGGTGGGGGGGAGCGCGGCGGGCGGCAGGGAGGGAGCGGGAGGGAGGCAAGAAAGTAGCAGAAAGTGAGGCTGGCAGGCGGCGGCAAAGGAGCCGGCGCGCGGCGGCGGCAGGAAGTCTGTGCCCGAGAACAGCAGAAATAAGAGCCAGGGAGGGACCGCGGCCGCGGCGGCGGCGGCGAGAGCGAAAGAGGAAACTGCAGAGGAGGAAGCTGCGCCGCAGCCCGAGCCGCCCGGCATCCCCGCCGCCTCTGCGCCCGCGCCGCGCCCCCGGCGCCCCCTCCCCAGCGCG)CCCCCGGCCGCTCCTCCGCGCCGCGCTCGTCGGCCATGGCCCGGGAGAACGGCGAGAGCAGCTCCTCCTGGAAAAAGCAAGCTGAAGACATCAAGAAGATCTTCGAGTTCAAAGAGACCCTCGGAAC|GTGTCTGACTTCCAGCAACTGCTGGCCTGTGCCAGGGTGCAAGCTGAGCACTGGAGTGGAGTTTTCgTGTGGAGAGGAGCCATGCCTAGAGTGGGATGGGCCATTGTTCATCTTCTGGCCCCTGTTGTCTGCATGTAACTTAATACCACAACCAGGCATAGGGGAAAGATTGGAGGAAAGATGAGTGACAGCATCAACTTCTCTCACAACCTAGGCCA___GTGTGTGGTGATGCCAGG(CATGCCCTTCCCCAGCATCAGGTCTCCAGAGCTGCAGAAGACGACGGCCGACTTGGATCACACTCTT___CTCAGAGCCCAGGCCAGGGGCCCCCAAGAAAGGCTCTGGTGGAGAACCTGTGCATGAAGGCTGTCAACCAGTCCATAG___GCAGGGCCATCAGGCACCAAAGGGATTCTGCCAGCATAGTGCTCCTGGACCAGTGATACACCCGGCACCCTGTCCTGGACATGCTGTTGGCCTGGATCTGAGCCCTCGTGGAGGTCAAAGCCACCTTTGGTTCTGCCATTGCTGCTGTGTGGAAGTTCACTC___AAGTAGGCCTCTTCCTGACAGGCAGCTGCACCACTGCCTGGCGCTGTGCCCTTCCTTTGCTCTGCCCGCTGGAGACGGTGTTTGTCATGGGCCTGGTCTGCAGGGATCCTGCTACAAAGGTGAAACCCAGGAGAGTGTGGAGTCCAGAGTGTTGCCAGGACCCAGGCACAGGCATTAGTGCCCGTTGGAGAAAA)$ MARENGESSSSWKKQAEDIKKIFEFKETLGt|cltssncwpvpgcklstgvefscgeepclewdgplfifwpllsacnlipqpgigerleer* 11BR074 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 20 0 28 80 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(3),inconsistently_clipped(1) GCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAcTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTT(ACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 11BR074 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 13 1 24 38 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(2),mismappers(1) GCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGAC(GCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR074 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 12 10 0 146 49 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(3) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAA)CACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCT...___AACAGACAAAAGGAC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR074 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 6 11 0 60 34 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGA)GGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR074 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 1 2 1 236 18 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAA)CTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAG(CCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 11BR074 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 9 5 0 186 43 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream duplicates(1),low_entropy(1),mismatches(1) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCATCGACAGGGAAAACTTCGTGGACATTGTTGATGCCAAG___TTGAAGATTCCTGTCTCTGGATCCA)AATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGGCCCCTTTCAGAG___GTGGCACCTTGACGAGGTCTTTTTAGAGCTCAAGGATGGTCAGCAGATTCCTGTGTTCAAGCTCAGTGGGGAAAACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCA?AGTGGACCTTTATTGTCTCCTGAGCACCCATTCTTTGTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCT . 11BR074 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 4 4 1 47 24 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(2) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCC)CGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTG___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATGG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvdsrplpdvaltgkctrecdey 11BR074 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 3 3 0 47 5 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCA)GTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTGGCCACATTGAGGAATCGTGTAAAATGAATGTATGTGCTCGTAAGTGAAATATATGCAGTGTTCCAACTCAATATGTTGGATCCTAATAGACC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnpsghieesckmnvcark* 11BR074 ENSG00000161551.14 ENSG00000269483.2 -/- -/- chr19:51877282 chr19:51843315 CDS/splice-site exon deletion/read-through 1 2 0 60 7 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000269483.2 ENST00000301399.11 ENST00000594725.2 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTG)GAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCgCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTTTATCATCATTCAATGATGTGGCTGTTGACTTCACCTGGGAGGAGTGGAATCTATTAGACCCTGTTCAGAAGAACCTCTACCAGGATGTGATGTTGGAAAATTACAACAACCTAGTGTCACTGG___GT(TGTCAAGCTACCAAGCCAGAAGCAATATTCCAGT)$ MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSrFKLEQGEPPGIAEGAAHSQICP|gfiiiq* 11BR074 ENSG00000278621.1 ENSG00000259345.7 -/- -/- chr15:39588397 chr15:39071608 exon exon/splice-site deletion 2 0 0 77 18 medium . . . . . ENSG00000278621.1 ENSG00000259345.7 ENST00000616754.1 ENST00000561058.5 upstream downstream . GTGACAGAACAGATGTCCCATGGTGACCAAGGACCCCAGCCTCCATTGACTGTAAGAAGATGAACCACAGGCAACAATTAAGATCAACTTTCAAATCCCTCCCTTGTCATAGACTCTCCTAAGCCCGTTCAAGAAACCTCTGCTTCTCTGACACATGGAAAGAATGCTGGGGAAGAGG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCA(TGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 11BR075 ENSG00000186153.17 ENSG00000260701.2(42182),ENSG00000261154.1(101826) +/+ ./+ chr16:78164289 chr16:77488980 CDS/splice-site intergenic duplication 10 15 0 46 46 high out-of-frame . WW_domain(100%),short_chain_dehydrogenase(100%)| . . ENSG00000186153.17 . ENST00000566780.6 . downstream upstream duplicates(1),mismatches(2) ^(GCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAA___TCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAG___ATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGA___CCATATAAATAAAAGAACCACCTACTTGGACCCAAGACTGGCGTTTACTGTGGATGATAATC)CGACCAcGCCAACCACCCGGCAAAGATACGACGGCAGCACCACTGCCATGGAAATTCTCCAGGGCCGGGATTTCACTGGCAAAGTGGTTGTGGTCACTGGAGCTAATTCAGGAATAG___GGTTCGAAACCGCCAAGTCTTTTGCCCTCCATGGTGCACATGTGATCTTGGCCTGCAGGAACATGGCAAGGGCGAGTGAAGCAGTGTCACGCATTTTAGAAGAATGG|CTTGTGTAAACGCCCACTGAACTTCTGGCTGCCCaATTCTCAACAGGAATGTTTTCAATACCTGGCCATCCTATAGTTCGTGAGAAGTTCCAACATGCCCACCCAGAAATTAGAAACCTGAACAACCCCTGACTCTAGCACGGTCTTTGAACCCCAATCTGAATTGTATACATCTGTCTTCAAAAGAACTTAAGATCCAACATGAAAgTCATGGAGGAAAACATTGTCTTCACATTTAGAAGGTGGGGTTCTAAAGCGCGA MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHINKRTTYLDPRLAFTVDDNPTtPTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEW|lv* 11BR075 ENSG00000123684.13 ENSG00000117697.15 -/- -/- chr1:211829059 chr1:212784493 CDS/splice-site CDS/splice-site duplication 13 7 4 355 136 high in-frame . . . . ENSG00000123684.13 ENSG00000117697.15 ENST00000366997.9 ENST00000366977.8 upstream downstream duplicates(3),mismatches(1) ^(AGTCCGGGCGAACGCGGCCGGGCCCTTGGGGACCGAGTCTCGGCGCCGCCGGGGAACGGGCGCGGGCCGCGCCACAGCCGGAGCGGGGCAGGGCCCCGCCACCGCCTTCTTCCGCCGGCCCCGCCGCCGGCCATGCATTCTTCCGGCTCCTCTGACTCCCAAAGCCCCGGCTGGGGCCCGGCCAGCCCGAG___)AAAGcCAGGACGGAGTCCAGTGTGAGAATGGCTATAACTTTGGAAGAAGCTCCGTGGCTGGGCTGGCTCTTGGTGAAAGCACTGATGAGGTTTGCCTTCATGGTCGTCAACAACCTGGTTGCTATTCCATCCTACATCTGCTATGTAATTATACTTCAGCCCCTTCGAGTGCTGGACAGTAAGCGGTTCTGGTATATCGAAGGAATCATGTATAAATGGCTTTTAGGAATGGTAGCTTCCTGGGGATGGTATGCTGGATATACAG|ATTCTGACATCAAAGTACTTGAAGATCAGTTTGATGAAATCATAGTAGATATAGCCACAAAACGTAAGCAGTATCCCAGAAAGATCCTGGAATGTGTCATCAAAACCATAAAAGCAAAACAAGAAATTCTG___AAGCAGTACCACCCTGTTGTACATCCACTGGACCTAAAATATGACCCTGATCCAG___CCCCTCATATGGAAAATTTGAAATGCAGAGGGGAAACAGTAGCAAAGGAGATCAGTGAAGCCATGAAG___TCCTTGCCTG(CATTAATTGAACAAGGAGAGGGATTTTCCCAAGTTCTCAGGATGCAGCCTGTTATCCACCTCCAGAGGATTCACCAAGAAGTCTTTTCCAGTTGTCATAGGAAACCAGATGCTAAACCTGAGAACTTTATAACACAGATAGAAACCACACCAACAGAGACTGCTTCCAGGAAAACCTCTGACATGGTACTGAAAAGAAAGCAAACTAAAGACTGCCCCCAGAGAAAATGGTATCCATTGCGGCCAAAGAAAATTAATCTTGATACATGAGCTCTTTCTGTTTATTTTGGGAGTTGAAAATAGGCACCATCAACATTTAGATTACAGCCTAATTAATACCTAGATAAGACTTCATTTGAAATAAGAAATAACTCTTTTACTAGTGATTCATTTATACAGATATAGTATCTCTGTGCGGGGATATGATATAATATTGTATTTCCTTACTGTTTTATCTATTGTAAATAAAAAGCATTTTAAAAAGTATTGACACAAAGCCCATCAGTGGGCATTAAAAATATTAAAAGTGCAGACTTTTACTGTCCTTAAGTGCCATCAACTCTCAGCTCCCTTGTAGCTTTTGTGGGATTTAACAAGTAACAAATTCTGTTGTGTTTCCCTGGTATACATCTTTCTAGGAAAAAAAAAAAAAAGAGAGAGAGCTGTATAATGATTTTTCGTTTACATGCTGAAAAGTAATTATCAGTTCTGCACAGCAGCAGATGCAGGGTTTTTTTTTAAAGATGTAGTTTGATTTATCAAATTAATGTGCTGATGATAATACTGGCTTTGACTTTGTTACTCCATGTTCAGCTAATTTAGGTTTGTGAGATTAACTTTAGGATTTTTTGTTGTGTAAGACAATGATAACTATTATTTGTGCAACATTACTCTTTGAAATAAAAATTGGCATGTAGCCAATGTTTCCTGCCCACACTCACTTTTTTCTATAGACCATTAACATAATTTGACTTGGAACTAATGGTTTCTTTTTAGGGTTTCTTATTTATTTCTTTACAAATCATTCCAGTTCAAAATATATATCAGATTAATACACTGGCAAAGTGTCATTGTGTTATTGAACTATTTCACATTTGAAGATGTTTATATATCAGGTATATAATCACTGGGAGAAGTCTGAGAAAACGATATTGGCTTTACTTCTAACATTTAACTATAGTTTCTTATAGCTCTTATTGTGTGTCTTACATTATACAGTGTAGGCAGGGCCATCAAACTTACCAACTGTTTCCCCTTTTGATGACTCTGATACCTTCATTCATTTTTCAAAGGAATTTACTGATCATGAGGTTGGAAAATCTGTATTTCTCTTGCTTATTATGTATTAATAATCATAAATGTCTAGATTCACCAGAAGTCACCAGAAGGTCTGTCTCAGTGAAGAAAACTTATAAAGCCACTTTGTTGCATTTTGTGTTTCAGTGTTACAGTTTGAGATCTGTATATTTGTACACAGCTATGTGTTTTTCATTGAAATAATGTACAAAGACTGATCTTGATGCTGTGTATTTTTATGAGTTGTCTTAGGCATTCCTGAGCTCAGCTTCAGTTGGATGGTGGGTCAGCACCCTGCGTTTCTGAACATACTAGACTTCAGTTTAAAACTGTTTTGAGGCTGTATAATATGTTGCTGTTTTTACAGTGCTAATGTTTTTATAGTATTAAAATTCTGTATGATTTGTTTCACTTCAGAGGTCCCCAAACAAAAGAGTTATTGTTAATTCTATTAGATTATATAAGCTACTTGCATTTTGATTATATAAGAACATGGTCCCTCCCTTTTAAGAGAGGTATATTGTGCTACATAGAGTTTTTAAATGACATGATAGATTTGCTCTGAAGTATTCAGCAGAGAAACAAGGAATCGATTAAGGAAATGTGACAAAAATCCTGTTAATGTTGAATCTGTGTAATGACTATATTCTACTTTGTGTTGGAAATTTTTATAAGTTTTTAAAAAATGGTTATATTTTAAAGTCCCCAGGCAGACAGCTGAGATTTGAAATCCTCTTGAGAGCCCAAAGTTTTACTCCATAGTTATAGCAGAGTTTAAAATAGAAATACCACTGGGAAAGACAGTACGTATTAGCATTATTAACTAAGAAAAGCATGACCAATAGCAGTAATAATATTGAATAAGTATACTGTGTAAGAGGAGAAGTTGCATTTCTGCATAGGCCAAGAACTAGTAAGCTAAGGATTAAAAGCAAGAAAGTCTGTAGTTTTAAGGAATTGGAAAGGTTGAAGGAAAAAATTGAAAATCAAATCTTGCTCTATGATAAAAAGAGTCTGGATTGAATAGGGTCTTAAAATTATCTTTCAGAAAAGAAATAGCCAGGCGCGGTGGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGACAGATTACTTGAGCCCAGCCTGGGCAACATAGTGAAACTCCATTTCTACAAAAAATACAAAAATTAGCAGGGTGTGATGGCACACACCTGTAGTCCCAGCCACCCAGGAGGCTGAAATGAGAGGATCACTTGAGCCCTGGAGGCAGAAGTTGCAGTGAGCCAGGATGGCACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACCCTGTTTCAAAATAATAATAAGAAGAACACAAGAAGGTTAAGTCTAGTCCCAAAGAAGAGAGAACACTGTCAAAGCTGGTTTCTGAAAACTGGTACCAAAATCTACATTTGTTTATTTAGGCTACTATAACAGAATACCACAGGCTGGGTGGCTTAAACAACAGATACTTACTTCTCACAGTTCTGGAGGCTAGAAGTCCATGAGAAGGTGCTGGCAAATGCAGTTTCTGGTGAGGGCTGTCTTCCCGACTTGTAGATGACCACCTCCTTACTATGTCCTCACATGGCCTTTCCTCAGTGCATGCATGTGGAGAGAGGGACAGAGTGCAAGCTCTCTGGTGTCTCTTCTTATAAGGACACCAATTGTATCAGATCAGAGCCCCACCCTTATGGCCTCATTTAACCTTAATTATTTCCTTAGAGGCCCCATCTCCAAATACAGCTATAGGCACATGGGAGTTAAGGCTTCATCATACAGATTTTAGGGGGACACAAACATTGAGTCCATAACACAAGCCCACAGAAAATCTTATCCTAGACCTCTTTCCCTGGCCCTTTATGGCTTGGGCTCCGTAGAGGACAAAGTGAATAAAACCAAATTTTTTATTGCTTCAAACAGTATGATTTCATCTTGTAAGATGTACTTTTTCTTTTCTAAGGCTGAATTTGTTTGATTTCTGGTGAACACCTATCTTCTCTATCCACCTTCATTCATTTATTCATCTGTTCAACACATACAGTTGGACACCTACTCGGATCAAAAGTCAGAGATCTTAAGAGCACAGCCTCTAAGCCAGATCATCTGAGTTCAGATTTCAGTTCTACCATTATTAGTTCAATGATATTGGACAAGTTACTTAACCTGTCTATGATCAAAAGTCAGAGATCTTAAAGAGCATAGTCTCTGAGCCAGATCATCTGGGTTCAGATTGCAGTTCTACCATTATTAGTTCAGTGACATTGGGCAAGTTACATAACCTGTCTATGCTGCAGTTTTCTCATGTGCAAAATGGGGATAATAATTATGCCTACCTCATAGCGTTATTCTGAGAAGTAAATGAGTTCATAATGTGAAGGCCTTAGACTAATAACTGGTGCATATGAGTACTCTATGATCACTGTTATTACTTCTTTTGATAAAGGAAATGAAAACACTCAGGACAAGTGTTGCCTTCAGGAAGGTCATATTCCAGTGAAGAGGATGAGTGTGCAAACAATGATAATGCCATGCAGCAAATGGTATGATAGATGTATGTGTGGAACTTAGGGGAGTAGTCATGGAAGTCTTTGTAGAAGAGGTGGCATTTGAGCAGTCTTGAATGTTTTAGGCAAATAATCAGGGAAGGAATACAGGAATAAAGAACAAATTACTGTTATAACAATGTGGATCAATATCAAAGATACTATATTGAATAAAAGAAGCAAAGCCAGGCACAAGAGAATACATCCTGTGTATGGAATCACAGAATGGGCAAAACTAAGCCATGGTGGTTCCCTCTGGGGAGAGGGGAGATATTAACTGGGAATGGCACGGGAAACATTTTTGGGTGAGCAAAATGTTCTGTATCTTGATCTGAGTGGTGCTCACATGGCTGTATATGTATGTAAAATTTTGTTGAACTATACACTTAAAATTTCTGCACTTTATTTAAGTTTTATATTTTAAAAATGCACAAAACTGATTCACCAAATATTTGAGGAGCGTCTCCAGCATCAAAGACAGACCCAAAAACTGTAAGTCCCTTAATGGCAGGAATCTTTGTTCCATCCACCTGGAATAATTGCTGGCACATGATGGGCCCTCGATGCATAGTGGTTAACTGAGTGAATTAAAACAAAAACCAAAGAGAATAAAGGACCTCAAAGAAAACAGATACATACAAAGCAAAATCCCAGAATGATGACTGTACTCCCAGAAAGAAGAGAAAATCATACATTTTTTGGAAAATCGGAATGCTATTAAATAATGTTCAGTAAATAAGAAAAAGTTTTTGAAAATTAAAAATATGAAAGTTGAAATAAAAATTCAGTGGGAGGGCTGGGAGATAAAATGAAATTTTCCCAAAAATAAAACAGAAAGATTAAGAAATGGCAAATTAGAAAAGTAAGAATAAAGAGAATAAGTTCATAAAGTTCAAAGTCTAATCGATACCCATTCCAGAGATAGCATGCAGAAAAAGCAGCAGAGTCAAAATTATCAAAGAGATAATGCAGTTACCATATGGCCCAGCAATTTTACTCCACGTTCTAAACCTAAGAGAATTGAAAACATGCTCACACAATAACTTACACACAAATGTTTGTAGCAGCAGGTTGAACTTTCATGAACTGATGAATGGATAAATAAAATGTGGACTATCCACTCAATAGAATATTATTTGGCAATAAGAAGAAATGAGGTACTGGTAAATGCCACAGTGTAGATGAACCTTAAAACATGCCAAGTGAAAGAAGCCTCTCACAAAAGACTGCTGAATTTTGTAGACTCCATGTAAATGAACTGTCCAGAACAGGCAAATCTACAGAAACAAAAAATAGATCTGTCACTGCCTAAGGCTGGAAAGATGGAGAGGGTGGAAGGAATAGGAAGTGACTGCTAATGGGTATGGGATTTTTTTTTTTTTTTTTTTGTGAAACAAGGTCTTGCTGTGTTGCCCAAGCTGGAGTACAGTGGTGCTATCTTGGCTTACTGCAACCTCTGCCCCCGCAACTCAAGCCATCCTCCCACCTTAGCCTCCCAAGTAGGTGGGACTATAGGCATGCACCATCATGCCCAGCTAATTTTTGTATTTTTTGTAGAGACGGAGTTTCGCTATGTGGCTGGTCTCAAACTCGTGAGCTCAAGCGATCCGCCCACCTCTGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGGGATGTCTTTTGAGGGTGATGAAAACCCTCTAAATTTGATTATGGTGATTCACGACTGCTTGTTGAATATACTGAAAACCATTGAACAATACAGTTTAAAAGGGTGAGTGAGATGGTAAAGTATATCTCAATTTAAAAAGAGAATAAAGAAATAGAAATAACACAAGAAACATTCCCAGACCTGAGGAATACCAAGAGGAATTGGAATGGCATCAGATTACTAAACAACAATCCTAAAATCTAGAAGCATCTGGAGAAATATTCTCAGCATAAATGATATACAACCTAGGCTTTTATACACAGTCAAACTAATAATCAAGTGCATGATTAGCTAAAAGATATCTCAGATATGCAAAGCGTCAAAAAAAATTACCTCCAAGGCATCCCGTTTGGGGGTTCTACCAGGGGCTGTGCTCTATTCCAAAGGGTAAACCAAAAAAGCAGCAGCCATGGGATCTGGGAAACTAAGGCTCCCAAAACACAGCACACTCGAGTCTACAGGCTACTAACTAATCAGCAGATTTGGAGACTAGGCAGACCAGGTTGGAATAAGACTATGTAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGACAGGCAGATCACCTGAGGCTGGGAATTGGAGACCAGCCTGACCAACAACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATCGCACTCCAGCCTGGGCAACAAGAACGAAACTTCATCTCAAAAAAAAAAAAAGGACTATGTAGGACTCCAAAAGAGATATTTTCAGAAAAAAATAAAAGTGACAACACGAGTGATAATGTTAACTATGCAGAAAATTGTATAAAGGAGATGTTTTGTAATATGATTAAGATGTTCAAAGAAACAAAAAATAAGGCAGTTATTCACTACAGTAGAGGCAGAAAGCTGTACAAAAAAAGAAATGTAATCATGGTTACAAATTAGTTCTCCAGTGAACAATATTTATATAGCCATAATAATAAAAACCCTGAATCTGAATTCAGTAAAAAAAAAAAAAAAAAATTGGGACAGTTACACTGGGAGGCTAAAGGATGGGAATTAGCAATTAGTACAGCACAGGCACTGAACAGTTAGATGGACATTGGTTAAAGCAGTAAGGTGGGGTGTGGAGGCCCTTATAGCTGCTGGGTCCTGGGGCAGGGTAGGGTGTCCCAGGACATGGAGCTGGAGCAGCCAGAGTGGCAGGGATAGTGAGGAGGCTTCTGTGCCAACCAGTACAATCCATATGTTTGTAACAGTGTGACTGTCTGAACACCAGCTTTGACATGGCAGTGGGGAGTGAAATCTTCACCCACCACAACTGGAAGTCAGTGGATGTCTAAAAAGCTGATTCAAGATCATACAATATGGATATAATTTAGTGCAGCAGAATAAAGAGCTGACGAAGTGGGAAGTATTAACTCTGTGGATGAACTTAGGTGGGGGAACTGGGCCAGGGACTGATAATTTTTGATAGAAGCCTCATAGATTTGATTTTTAAAATTAAATGCATATAGTAATTAAGGGAAAATAAATTTGGTTTAAGAGACAAATCATCCCCTAGAACCTTTCTCGGGGTTTCAGTTTTTCAGGGTTTCAGAAGCTTTCTCAGGGTTTCAAAACAGGCGTGTGCCACCATGCCCGGCTAGTTTATTTGTTTTAGAGATGGGGTCTCGCCATATTGCCCCGGCTGGTCTTGAATTCCTGGGCTCAAGCCATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGAATGAGCCACTGCACCTGGCCTATCACAGTATATTTCAGATAAGACTTACTATTCTCTGTTTTTGGCTGATAATTCTAGTTTTGGTTTCTTCAGGTTTTTTTTTTTTTCTCCCCTCTGACCATTTGTTTTGCAAATAGATTATATTATGAAAGTCTCTGAAGAAAAAAATATCTCTCTAGAGAACCACTGAAGGGGGTTCTTGGGGATTTTATATGAAAGGATTTGAGAAAATTAATGTTATATTCATTTGAAGCTTCAGGGGTAAAGAATCCCTTGTAATTCGTTGCTGTGTCTCTACATTGCTCATACTTTGCCCATGGGCTGTAAACTAATATTCGTTGAATGAATGAGTTCATATTGCAAATTTCTAACTTGTCGGTTTCCCTGGATCACAATCTCACACATTAATGGCTTGTGGCATTTATATTCATTATTAATTGAACTTAGAAGGTGAGTGTGGGGAGGGGAGAGGTAAAAAACTGAGGACAGATCACTGGGAAACTGACCTGAATTAGGACTCCAGAGTCTCCTGTCTACTAGAACTACGTCTACTAGAACTAAGTCTAATTCCCATATCCCTGCAGGACATAAGAGCAGAGGATGGCATTGACATCCCTCAGTGACATCACTGTGCTAGCAGGTATAGTTGCCTTCTGATCACCTTTTCCTTTGGTCACATCCCCTGACTTCTGGGTGGCCTGGGATAGCTAGAGAAGAAAATTCAACTTCTCCCTGCAGGTCTTCTGCTCCAGCTGACTCCTGTGCCTGTGTAAAAGATTGGGCATTTCTATCATCACCTTGACTAGCCTTACTCAGAGAATGGCTCCAGTGCCTTTGGGCTCATACCTAGTTGCAGATTTTAAGACCTCCCTTGGTGCCCATTCATGTAGCTCTGTGGCCCACATCTTCTACAATGATGTCATTGGAGTTCTTTTGTCCATTTCTGCCCCTGATGCCACCTTGATGGGAATGCCACCCTCCACACAACTCTTCACCAGTCCATAAATACCTGAGACTTGGCGCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGTCACCCAGGCTGGAGTGTAGTGGAGCGATCTCAACTCACTGCAACCTCCACCTCCCAGGTTCAAGAGGTTCTCATGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGCTACCATGCTGGGCTAATATTTGCATTTTTATAGAGATGAGGTTTTGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACTCGCCCTGGCCTCCCAAAGTGCTGTGATTACAGGAGTGAGCCGCCACGCCCGGCCCATTTCATTCTTAAAAAAAAAAATCCTTCCGGAGGTTTAGTTCCTCCACAAGGCAGCTTCTGGTTACCTGCCCCCTCAGGGTCCTTGCTGCCTGGGTCACCCCAGCAACCCCTTCGTCCACACATCACTGCCCTTTGCAGCACCAGCTGATTACATTGCTTTTTCCATGTTCTAGCTGTTCTTTTGAGCCGTTTTATAGCCGAGCATCTCCACCAGAAGAGCGGATAGGAAAAAGGAAAAGAGAGGAGGATTTGACCTTGGTATCTTGCTTCATTTCCTTCTCTGACAAAAATTTGGTGAAAAGGTTAAAATAAGTGTTCGAATTCTCTCTGACTTGTCATATTCTGTCTATGCCCTGTGTGCCTGCCTCTGATCCTGAGGAAGTGTAGAAATGAGGGGATGACACTGGCAGAATAATAAAAATGGGCAAAGTTGTAGGGCACCCCTGCTCCAGGTCCCATACACCCCAGCTCCAGAGCCTCAGGATCTTTCCCAGCCATGTGCCAGACAATATTGTAAAATGATTTTTCGTAGCCACACCTTTTATTACACACATACTCGATGAATCTAAATACTGTGCTAAGAGCTGTGTGGATGTACACCTGTAAACCAAGGCACAGACCCTGCCCACAAGCAATTTGCCGTCAGTTAGGGGAGCCATCAGTAGCATCTAGGGATCCATTAGAGGGAAAAGAGGGAGCTGAGGGAGAGGCTAGGAGCCCAAGCAAACCTGCACTTCTGCTCCTAGAGGGAACCTGAGAGTGAAACTCATGGGTTTGGAAACTTCTGTGGAATTACCTGCTTGCAAGAAATGATTTTGTCTGGTTTTAGAAACTACGATGGAACACTAATATATTCCTGTAATTGACTGGCAAGTTTTAACACTTACTGCAATTTATTTTTCTTGTAAGCCCAACCCAAGTATTCTTCCTTTAAAAAAAATTTCAGATTGACAAATGACTGCTTCTTTAGAAATCCTCCTTACTAAAATTACTCCTCATTTCTTTTTCTTTCATATTCAAAGGGAACAAACGTTCAAACACACAAATAAACACTGCTCTTTGCCAGAGTGGTGGACTCTGGCCTCCCCACCCCCAGCACTCCCAGTCTTGCCCTCCTGCAAACACTAGACTTAATTTTCTCTGCGCTGAGGGCCCTCCTCGAGTCAGAGTGAGAGGAAAAACAGAAGGGAGAAGCTGCGAGATGTGGCAACAAAGGGGACGGTGATCAGGTTTATCCCTGATGTTGTCTGTGAAGGTGTTCCATTCTCCAGAGATCTCACCAAATGGTATAAGTGATGTGCAGATAAGCCTGTGGTTCCCTTCACTCATCAGATCAGAGCCTCAGAATTCTCAGAAACCATTTTTTTCCTAACATAAAACTCCTTTTCTCATTTCTATCCCTCTGTAAATCTGATTTGAAAAAATTGTTTGAACAAACCAACAATGTCAGATTTGTTCCAGCTATATGAGCTCACAATTCATCTACTCTTGGTAGTTCAAGATAAAAGATTACCCAAAGAAAAGGAAGAGATTGAGTAAAGCCACAACTGTAATAGTGTCCCAGATTGGGTAAAAGGCCATTAATAAATAGCGTGAATTGTAGAACTGTTTAAAGCAGCATATTTTTAAAACAGGCATATAAAGAATCCACTTTATGCCTGGAATTGTACAAAAATACTTTAAATAAATGTTTACATATATAATGTTATCAACTTATTTGCTGAAGGTAATATCAATATAATGCTAGTAGTTACCATGTATTGAGTGCTTACTACATGCCATGATCATGCTAAAAGCTTCACATGCACCATCTCTTTTAATCCTCAAGACAATCCATGAATTAAGGGCTATTACCACGCCCATTTCATGAGAAAGAGGTGGAGATGAGAAGGGAAGTGCCTGGCCACCTTCCCAGCGGTCTATAGACCATGTAGAGCAGAGCGAGGCCTTCTGACCACAAACTCTGCTTCCACCTTCTCCCCGTGGTTCACAGCAAAGGCCTTGTCCAGAGTCTCAGACGCTCTCACCGCTACACCACAGCGACCTCGTTGGTTCTTCTCATTTTTTTTCAATGACACATAGCAACAGAGAGTATCAACAAACATTTTTAAATTTCCCAGCAGTTAACGAATAGTGAATATTACTATGTAATACTAGTGTCTAAGAAAGTGCTCAAAGTTGTTTAAAGCAATTTATTATCTTAATGAGGTTAAATATGAACTTTTGCTGTTAATTTCTTGGGAAATATAAATCATCATAGCTAGTCATTCTTTCATCGTGGGAAGCTAACAGTCCTGATTGTTCAGGATTATAATTATAGTAAATTCTGAATTTGTGACGTGTGAATTTTAGAAGGTTACAAAACAACTTCCAGACAACTGAGTCATAAAGTTTTTGAGAGAAGTATGTGGCACACGTCTAATTCATTGTCCTTTCTCTCCAGTGGTATAGTTATGATATTAACCTAAATTGCAAAAGGAATCGTTTTAGTTGACTGCTGCTTGAAATTGTGTCACTTTTCCAAATTTAGGTAATGTCTGTTACAAGGAGTATATTTTGGAAACATTAACTTGACTGATACTTATTTCCCTGGTTAAGTGACCTTCCTGCCATGTGCTGAGTGCCAGGACTTACTGCCCCTCAGTAATTTGGAAGGGGATCCTGGGCCCTGCCTGGAACAAAGGGTTGTGAAACAGCTCTGAGTCTCAAGGCAAGTCTTGAAAGCCATATATAGTTTTCAGAAAAAGAGATCTTCTAAATTCCATTCACCCCCATTTAACACATTAGGAGCCAAGCCTGGTGGACTAGCTCTAGGGGCAGTTTAGGAGAGAAGGGGATCGGGGAACCTTCATCCCTTCTGCCTCTGGTGAACTGGCAAGATGAAGAGGATGAAGCTGGGTGACCCAGAGCCCGCCCTCCCTCTCTCGGCAGTCATCTCCAAGGCCGGAGTAGACTGGACTGGAGGGCCTCTGAGAGGACACAGCCAGGAAGCACACTCTCCCTGTGCTCTTCACCCACCATGAAGAGACAGGACGGGAAAGTCCGTGCTGTGCTGGTGTCCATCAGAGGGAGGGACACCATCCAGCCCCTGGGACCGGGCTCGGCTCTGTTGTTGCACAGAAGTCATTTGGAGATCCCCACGTGCCACATGGAGGATTGTGGGAGGACCCCACCGAGGTGGCTGGCAGCCTCTCATGGACACCATGGAGAGTGACCCAATCACTCTGCATTTGAGGACTGCAGAGTGGCTCAGCGGTCTGGACATTGAAGAGGAGCCAACCTCAGGGGTAACACAGTGCCGCTGGGAGCTGAGATGAGCCAGGTGGTCGGTGGGGGACACAAGCCTAGAACAAATTCAATAAACCAGCCACAGACGTTATCATCAGATGTGCCCAGAGACAAGGTGGACAGGGGCATTTGCTGTGGAGACCAGAGGGCCAGAGAGAGTACAGGGACCTGGATAGATGGCTCCAGCACCTCTTCTTCTCCCTACACCCATATGCCATCTTGATAAACAGCAGGGAAATCTGAAAAATACCAAGTCTTCCCATAGGGACAGTGTTACCTCCCAAAAACTGTTTGAATAATTGGCTTGAACTGGATTTTCTGAACTGAACTAATGCTATTGTTTTGTGGGTTTTTTTCTTCCTACTGAGTAGAGTAGTTGTTTATGGGGGACATCTGATCCTTTCATTTTCTTCCAGAGAGCTAACCACCTGTTCTGACACCATTTATTGAATAGTACCTCTTTTCCCCCACTGATGTGAGAGGCTGCATTTTTCATCTAATAAAATCGAATATATATTTAGATCTA)$ MAITLEEAPWLGWLLVKALMRFAFMVVNNLVAIPSYICYVIILQPLRVLDSKRFWYIEGIMYKWLLGMVASWGWYAGYT|dSDIKVLEDQFDEIIVDIATKRKQYPRKILECVIKTIKAKQEILKQYHPVVHPLDLKYDPDPAPHMENLKCRGETVAKEISEAMKSLPALIEQGEGFSQVLRMQPVIHLQRIHQEVFSSCHRKPDAKPENFITQIETTPTETASRKTSDMVLKRKQTKDCPQRKWYPLRPKKINLDT* 11BR075 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 8 0 25 28 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(2),mismappers(1) ATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATtTG___GATTCTGTCATGCCTTCCCAAGAGCCTCC(AGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR075 ENSG00000124151.19 ENSG00000225549.3 +/+ +/+ chr20:47628023 chr6:118779223 CDS/splice-site exon/splice-site translocation 5 14 1 67 21 high out-of-frame . PAS_domain(100%),PAS_fold(100%)| . . ENSG00000124151.19 ENSG00000225549.3 ENST00000371998.8 ENST00000429807.2 downstream upstream duplicates(1) ^(AGCTGCTGCTGTCTCAGCCGCTCCACAGCGACGGCAGCGGCTGCGGCTTAGTCGGTGGCGGCCGGCGGCGGCTGCGGGCTGAGCGGCGAGTTTCCGATTTAAAGCTGAGCTGCGAGGAAAATGGCGGCGGGAG___GATCAAAATACTTGCTGGATGGTGGACTCAGAGACCAATAAAAATAAACTGCTTGAACATCCTTTGACTGGTTAGCCAG___TTGCTGATGTATATTCAAGATGAGTGGATTAGGAGAAAACTTGGATCCACTGGCCAGTGATTCACGAAAACGCAAATTGCCATGTGATACTCCAGGACAAGG___TCTTACCTGCAGTGGTGAAAAACGGAGACGGGAGCAGGAAAGTAAATATATTGAAGAATTGGCTGAGCTGATATCTGCCAATCTTAGTGATATTGACAATTTCAATGTCAAACCAGATAAATGTGCGATTTTAAAGGAAACAGTAAGACAGATACGTCAAATAAAAGAGCAAG___GAAAAACTATTTCCAATGATGATGATGTTCAAAAAGCCGATGTATCTTCTACAGGGCAGGGAGTTATTGATAAAGACTCCTTAGGACCGCTTTTACTTCAG___GCATTGGATGGTTTCCTATTTGTGGTGAATCGAGACGGAAACATTGTATTTGTATCAGAAAATGTCACACAATACCTGCAATATAAGCAAGAGGACCTGGTTAACACAAGTGTTTACAATATCTTACATGAAGAAGACAGAAAGGATTTTCTTAAGAATTTACCAAAATCTACAG___TTAATGGAGTTTCCTGGACAAATGAGACCCAAAGACAAAAAAGCCATACATTTAATTGCCGTATGTTGATGAAAACACCACATGATATTCTGGAAGACATAAACGCCAGTCCTGAAATGCGCCAGAGATATGAAACAATGCAGTGCTTTGCCCTGTCT)CAGCCACGAGCTATGATGGAGGAAGGGGAAG___ATTTGCAATCTTGTATGATCTGTGTGGCACGCCGCATTACTACAGGAGAAAGAACATTTCCATCAAACCCTGAGAGCTTTATTACCAGACATGATCTTTCAG|GTGTTAACCCCAAGGACAATTCTTCAACGAGATGCTATACAGCAAACTCTGTCTCAGAATCTGTTTCCCAGAAAATCCAACCAGCAATTTTTATGCCTATGCAATGAACAATTCTGGGGGAAAAATACCCATCAAGTATTTTGTATTGGATGGCTTTTATTTTATTTTATTTAGGCACCGGTGCAAAATTTCTGGCACTGTCAGGTTCTTTCAAAG(TGGGTATTTGTTAGTTTTGTTATCAGATAAAAATATTAAAGCAGTTTTTATTTGGGAAAATAAAAATCCAGTGGTTTGGTTTTAGTCTGGTCAAAATAGCTACCTCAAAGTCTGTATCAAAATGGCAGCATCTGACCCATCTAGCGTGCATCCTTCTTAACGGGAAG___AACTGAAAAGCCATCATGCAGTGCTGTTCCCCAATTCAAAACACAAGTTCGAATCATCTTAGGCTCAAACTGAGAACTGGCATTAGTCCAGTTAAATTAATCTGCAAGTTGCTCCGAAGTGGGGAAGCGGGGCAGGATGGCTTACATCTTAAATGGACAAGTGTTGGACAGCAGAGTCCATCTCCCTGGAGTTTATCTTTGATAACAGATTTCTTCTGAAGAATAGCCAAGTTTGTGATTTTGTTTTTCAAAACTCTACTTCAGCAACATGTGAAGAAAAGAAGAGGCTATGGAAACACATCTGATTCCAGATATGATCATGGAAGACAGCCACCAGGAAACCCTCTGGGGAAAACAGGTCAAATCAATCATCTGCATCTCCCCAGTCCTCCCCCAAAGGCTGGTGGATGAGGAAGGTAAATATCTACTCTAAGAAATAGACAACTGGACATGCACATTCACAGTAGAGAGAAACCACCAAGGAGCGGAGGGCTGACCATGCTGGACAAGTAGATGAATGCATACATCTAAACAAGGATTGCTCTGGGTCTTCACAGATTAATGAGATCATGCTGGGAATTCCCTTTGCAGGGAACTGGCTAACTGGCATGCAGTTCTATAAATGCACATCTGTCTCATTATCTTTTTTAATATACTTTACTGAAGTATTCATATAGTTCTAATAAGTAAATATTTTTAGCTTGCAAAA)$ MSGLGENLDPLASDSRKRKLPCDTPGQGLTCSGEKRRREQESKYIEELAELISANLSDIDNFNVKPDKCAILKETVRQIRQIKEQGKTISNDDDVQKADVSSTGQGVIDKDSLGPLLLQALDGFLFVVNRDGNIVFVSENVTQYLQYKQEDLVNTSVYNILHEEDRKDFLKNLPKSTVNGVSWTNETQRQKSHTFNCRMLMKTPHDILEDINASPEMRQRYETMQCFALSQPRAMMEEGEDLQSCMICVARRITTGERTFPSNPESFITRHDLS|gvnpkdnsstrcytansvsesvsqkiqpaifmpmq* 11BR075 ENSG00000124151.19 ENSG00000225549.3 +/+ +/+ chr20:47628023 chr6:118782712 CDS/splice-site exon/splice-site translocation 9 2 0 67 16 high out-of-frame . PAS_domain(100%),PAS_fold(100%)| . . ENSG00000124151.19 ENSG00000225549.3 ENST00000371998.8 ENST00000429807.2 downstream upstream duplicates(1) ^(AGCTGCTGCTGTCTCAGCCGCTCCACAGCGACGGCAGCGGCTGCGGCTTAGTCGGTGGCGGCCGGCGGCGGCTGCGGGCTGAGCGGCGAGTTTCCGATTTAAAGCTGAGCTGCGAGGAAAATGGCGGCGGGAG___GATCAAAATACTTGCTGGATGGTGGACTCAGAGACCAATAAAAATAAACTGCTTGAACATCCTTTGACTGGTTAGCCAG___TTGCTGATGTATATTCAAGATGAGTGGATTAGGAGAAAACTTGGATCCACTGGCCAGTGATTCACGAAAACGCAAATTGCCATGTGATACTCCAGGACAAGG___TCTTACCTGCAGTGGTGAAAAACGGAGACGGGAGCAGGAAAGTAAATATATTGAAGAATTGGCTGAGCTGATATCTGCCAATCTTAGTGATATTGACAATTTCAATGTCAAACCAGATAAATGTGCGATTTTAAAGGAAACAGTAAGACAGATACGTCAAATAAAAGAGCAAG___GAAAAACTATTTCCAATGATGATGATGTTCAAAAAGCCGATGTATCTTCTACAGGGCAGGGAGTTATTGATAAAGACTCCTTAGGACCGCTTTTACTTCAG___GCATTGGATGGTTTCCTATTTGTGGTGAATCGAGACGGAAACATTGTATTTGTATCAGAAAATGTCACACAATACCTGCAATATAAGCAAGAGGACCTGGTTAACACAAGTGTTTACAATATCTTACATGAAGAAGACAGAAAGGATTTTCTTAAGAATTTACCAAAATCTACAG___TTAATGGAGTTTCCTGGACAA)ATGAGACCCAAAGACAAAAAAGCCATACATTTAATTGCCGTATGTTGATGAAAACACCACATGATATTCTGGAAGACATAAACGCCAGTCCTGAAATGCGCCAGAGATATGAAACAATGCAGTGCTTTGCCCTGTCTCAGCCACGAGCTATGATGGAGGAAGGGGAAG___ATTTGCAATCTTGTATGATCTGTGTGGCACGCCGCATTACTACAGGAGAAAGAACATTTCCATCAAACCCTGAGAGCTTTATTACCAGACATGATCTTTCAG|AACTGAAAAGCCATCATGCAGTGCTGTTCCCCAATTCAAAACACAAGTTCGAATCATCTTAGGCTCAAACTGAGAACTGGCATTAGTCCAGTTAAATTAATCTGCAAGTTGCTCCGAAGTGGGGAAGCGGGGCAGGATGGCTTACATCTTAAATGGAC(AAGTGTTGGACAGCAGAGTCCATCTCCCTGGAGTTTATCTTTGATAACAGATTTCTTCTGAAGAATAGCCAAGTTTGTGATTTTGTTTTTCAAAACTCTACTTCAGCAACATGTGAAGAAAAGAAGAGGCTATGGAAACACATCTGATTCCAGATATGATCATGGAAGACAGCCACCAGGAAACCCTCTGGGGAAAACAGGTCAAATCAATCATCTGCATCTCCCCAGTCCTCCCCCAAAGGCTGGTGGATGAGGAAGGTAAATATCTACTCTAAGAAATAGACAACTGGACATGCACATTCACAGTAGAGAGAAACCACCAAGGAGCGGAGGGCTGACCATGCTGGACAAGTAGATGAATGCATACATCTAAACAAGGATTGCTCTGGGTCTTCACAGATTAATGAGATCATGCTGGGAATTCCCTTTGCAGGGAACTGGCTAACTGGCATGCAGTTCTATAAATGCACATCTGTCTCATTATCTTTTTTAATATACTTTACTGAAGTATTCATATAGTTCTAATAAGTAAATATTTTTAGCTTGCAAAA)$ MSGLGENLDPLASDSRKRKLPCDTPGQGLTCSGEKRRREQESKYIEELAELISANLSDIDNFNVKPDKCAILKETVRQIRQIKEQGKTISNDDDVQKADVSSTGQGVIDKDSLGPLLLQALDGFLFVVNRDGNIVFVSENVTQYLQYKQEDLVNTSVYNILHEEDRKDFLKNLPKSTVNGVSWTNETQRQKSHTFNCRMLMKTPHDILEDINASPEMRQRYETMQCFALSQPRAMMEEGEDLQSCMICVARRITTGERTFPSNPESFITRHDLS|elkshhavlfpnskhkfess* 11BR075 ENSG00000066735.14 ENSG00000246084.5(6410),ENSG00000197176.7(44091) +/+ ./- chr14:104157942 chr14:97588556 CDS/splice-site intergenic inversion 11 5 0 15 24 high out-of-frame . . . . ENSG00000066735.14 . ENST00000315264.7 . downstream downstream duplicates(2) ^(CAGGTGGCCGAGGGCGGCCCGGCCCGCGAGCCGCCGCCGCTGCTGGAGGTGTCCCCCCGAAAGAGGCTACCCGCCGGGCCCGACCAGGACCCATGCGGCAGCCGCCCTGCTCCCGAAGGCGCCGGGGCCGGCCCAGAGCAGGGCCACTCGGCCGGCGGAGGCGGCTGGTGCCGCCACTGCCACACGAAGCTGGTGGAGCTCAAGCGACAGGCGTGGAAGCTGGTCAGCGGGCCCGGGACCACCCTCCGG___GATCCTTGCCTCTCTGCCCTGCTTCTCGACAAGCTACCAGCACCTGGGGCCCTGCCAGCCTGTCGCCCAGAGGCCGAGCGCCGCTGTGACGTCTGCGCCACACACCTGCAGCAGCTCACACGGGAGGCCATGCACCTGCTGCAGGCCCCTGCCAGCCATGAGGACCTTGACGCCCCCCATGGAGGCCCCAGCCTCGCACCCCCCAGCACCACGACCAGCTCGAGGGACACGCCAGGACCAGCGGGTCCTGCAGGGAGGCAGCCAGGACGAGCTGGGCCAGACAGGACCAAGGGGCTGGCCTGGTCCCCCGGGCCCAGTGTCCAGGTGTCTGTAGCACCTGCGGGTCTTGGAGGGGCGCTGAGCACGGTCACCATCCAGGCCCAGCAGTGCCTGGAGGGCATGTGGAGTGTCTCGCGGGTCAACAGCTTCCTCCCGCCGGCGTGCCTG___GCCGAGGCAGCGGTGGCGGCCGTGGCGGTGGCAGACACGGTC)CGAGAATGCCCCCCCGTGGCCGGCCCTGATGGCTTGTCGAAGGCCTGGGGCCGTGGTGGAGTCTGCACGTCAGCCCTGGTCACCCCCACCCCGGGCTCGGTGGGGGGCTCCACAGGCCCCTCAGCTGCAGCCTCCTTCTTCATAAG|GCTCATAGTGGAACAAGATGAGTCTCGGATGAGAATCAGGACTTTGGACTAGACACTGGAATGAATTAAAACTTCGTGGGACTATTGGGAGGGTATTTTGCAATGTGAGAAGATTTTGATTGTATTTTGCAGTATGAGAAGAACATGAGATTTGGGGTGGTGCCAG MHLLQAPASHEDLDAPHGGPSLAPPSTTTSSRDTPGPAGPAGRQPGRAGPDRTKGLAWSPGPSVQVSVAPAGLGGALSTVTIQAQQCLEGMWSVSRVNSFLPPACLAEAAVAAVAVADTVRECPPVAGPDGLSKAWGRGGVCTSALVTPTPGSVGGSTGPSAAASFFIr|liveqdesrmrirtld* 11BR075 ENSG00000213047.13 ENSG00000213047.13 -/- -/- chr1:197505377 chr1:197522053 3'UTR intron duplication 4 12 0 247 22 high stop-codon . DENN_(AEX-3)_domain(100%),dDENN_domain(100%),uDENN_domain(100%)| . . ENSG00000213047.13 ENSG00000213047.13 ENST00000620048.6 . upstream downstream duplicates(1) ^(GCAAGAAGGTGCAGGAGCCGCAGCGGGCGGCCCCGGTCGCAGGAACTGAGAGGCCTCAGCTTTGGTGGCGGCTACCGGCGGAGACGGGGGCGGCGGCCACGCCACCGCTGCTGTCACAGAAAGGCTCTGGTGGGTGGGGTGGGAGGCGGGGAAGTGCCGGGGGCGCAGCCGACATGGGCCCGCCGCCACGGCTGCTGTGAGCAGCCTCTTTCCCTGTGTGGCCGCCGGCGTGGGCGGGGACGGCGCGACCCTCGCGCGGCCGGGCTGCGGGCTTCCAGGCCAGCGCGCGGGGGCCGGACGGACAGCCCCACACCGACATGTAACCATGGACTGCAGGACCAA___GGCAAATCCAGACAGAACCTTTGACTTGGTGTTGAAAGTGAAATGTCATGCCTCTGAAAATGAAG___ATCCTGTGGTATTGTGGAAATTCCCAGAGGACTTTGGAGACCAG___GAAATACTACAGAGTGTGCCAAAGTTCTGTTTTCCCTTTGACGTTGAAAG___GGTGTCTCAGAATCAAGTTGGACAGCACTTTACCTTTGTACTGACAGACATTGAAAGTAAACAGAGATTTGGATTCTGCAGACTGACGTCAGGAGGCACAATTTGTTTATGCATCCTTAG___TTACCTTCCCTGGTTTGAAGTGTATTACAAGCTTCTAAATACTCTTGCAGATTACTTGGCTAAGGAACTG___GAAAATGATTTGAATGAAACTCTCAGATCACTGTATAACCACCCAGTACCAAAGGCAAATACTCCTGTAAATTTGAGTGTG___AACCAAGAGATATTTATTGCCTGTGAGCAAGTTCTGAAAGATCAGCCTGCTCTAGTACCG___CATTCCTACTTCATTGCCCCTGATGTAACTGGACTCCCAACAATACCCGAGAGT___AGAAATCTTACAGAATATTTTGTTGCCGTGGATGTGAACAACATGCTGCAGCTGTATGCCAGTATGCTGCATGAAAGGCGCATCGTGATTATCTCGAGCAAATTAAGCACT___TTAACTGCCTGTATCCATGGATCAGCTGCTCTTCTATACCCAATGTATTGGCAACACATATACATCCCAGTGCTTCCTCCACACCTGCTGGACTACTGCTG___TGCCCCAATGCCATACCTGATTGGAATACACTCCAGCCTCATAGAG___AGAGTGAAAAACAAATCATTGGAAGATGTTGTTATGTTAAATGTTGATACAAACACATTAGAATCACCATTTAGTGACTTGAACAACCTACCAAGTGATGTG___GTCTCGGCCTTGAAAAATAAACTGAAGAAGCAGTCTACAGCTACGGGTGATGGAGTAGCTAGGGCCTTTCTTAGAGCACAGGCTGCTTTGTTTGGATCCTACAGAGATGCACTGAGATACAAACCT___GGTGAGCCCATCACTTTCTGTGAGGAGAGTTTTGTAAAGCACCGCTCAAGCGTGATGAAACAGTTCCTGGAAACTGCCATTAACCTCCAGCTTTTTAAGCAG___TTTATCGATGGTCGACTGGCAAAACTAAATGCAGGAAGGGGTTTCTCTGATGTATTTGAAGAAGAGATCACTTCAGGTGGCTTTTGTGGAG___GGAACCCGAGGTCATATCAACAATGGGTGCATACAGTCAAG___AAAGGAGGTGCACTGTTCAACACAGCAATGACCAAAGCAACCCCTGCTGTACGGACAGCATATAAATTT___GCAAAAAATCATGCAAAGCTGGGACTAAAGGAAGTGAAGAGTAAACTAAAACACAAG___GAAAATGAAGAAGATTATGGGACCTGTTCTAGTTCTGTACAATATACACCAGTTTACAAATTACACAATGAAAAGGGAGGAAACTCAGAAAAGCGTAAGCTTGCTCAG___GCACGCTTAAAAAGGCCTCTTAAGAGCCTTGATGGTGCTCTATATGATGATGAAGATGATGATGACATTGAAAGAGCAAGCAA___GTTATCTTCTGAAGATGGTGAAGAAGCTTCTGCTTATCTCTATGAGAGTGATGACTCTGTTGAAACAAGAGTGAAGACTCCTTACTCAGGTGAAATGGACTTACTAGGAGAGATTCTTGATACATTGAGCACACACAGCTCAGATCAGGGGAAGCTGGCAGCTGCAAAGAGCTTGGATTTCTTTAGATCAATGGATGACATTGATTACAAACCTACG___AATAAATCTAATGCTCCTAGTGAGAATAACCTGGCTTTCCTCTGTGGTGGTTCTGGTGACCAAGCAGAGTGGAATCTTGGGCAAGACGATAGTGCCCTCCATGGCAAACACCTCCCTCCATCTCCTAGGAAGCGGGTTTCCTCTAGTGGTTTGACAGATTCTCTGTTTATCCTGAAAGAGGAAAACAGTAACAAGCACCTCGGTGCTGACAATGTGAGTGACCCTACTTCAGGACTGGATTTCCAACTCACTTCCCCTGAAGTTTCCCAGACTGATAAAGGAAAAACAGAAAAGAGGGAAACACTAAGCCAGATTTCAGATGATCTGCTTATACCCGGTCTTGGGCGGCATTCATCGACTTTTGTTCCTTGGGAGAAAGAAGGGAAAGAAGCCAAAGAGACTTCAGAAGATATTGGACTGCTCCATGAAGTAGTGTCATTATGTCATATGACATCTGACTTCCAACAAAGCTTGAACATTTCAGACAAAAACACAAATGGAAACCAAACTTAAATCTTGCATCCAAGCTTCTATGGAGACATTTTGAGATTCAATGCAATCTGTATAATAAACAGAATTATTTGTAGGAATGGCAACTCATACTATTTAAATTTTTTTTTGCATTTGCAACATTTTTCTCACTTGTTCATTTCGAGGATATATGAAATGCATTGATTTTTAAATATAAAGCGAATTCTACTGTGCTTTTAAATCAGGTACTAGTGTGTATGTATGTTTAAAGTATGTATTGACCATGAGATTTCCCAGTGTTTGGTGCTTAATGCCGTTTATTTTATTTAAGCTAAGAATGCATATGTAACCCATGCACATAACCAGTAGCTACTATACTAATCTGGTTGAGCATGAACTGATCAAGATATCAAAACTTATCAAAACTAGCCTGAAGCTGATGAAACTGTTAACCCACTAATTGCCTTAATCTTAAAGCTGTTTTTTAAGCATACTTAAATAATGTATGAAAGTATGTATAAAGTTTGAAGGATAAGTTATTAGTGTTCTGCAGAGCAATAATGCCTTTTTCTATTCATCAAATCAAGGTCAAAATTCATCTTTTCAAGATTAAAAAGCTCTCTTAATGGAAATATTTAATTTGCTTATATAAAGCACTATAGCCATGTTTTCCAAAAAGTATAAAAATATACACTTACCTTTCATTCAGTGAAATATAGGAAGTGCTGAATTACAATGTGAAGTTAATGACTTCTGTTTACAAATGAGACACTCTAACGAGTTTTCAGTCTCTCTGTATGCCTTTGCTATTTAGGGGTCCACCCCAAGAAAGCCAAATACAACATAAACCGTCCTGACAAAAAAAAAAAAAAAAATCTTTTTTTAACTAATAATTCTCTATCAAAATGCTTCATATCATCATCTCAAATTTACTTTTTAAAATAATTGACTTTGTATTTTAGAAGTTTTAGATTTACAGAAAAATTGCAAAGATAGTACAGAGAGTTCCCATCTACCCCTGTTACTAACATCTTACGTTACTATGGTACATCTGCCCCAATTAGTGAACCAATATTGATATTCCATACTTTATTCAGATTTTCTTAGTTTTCTCCTAATATCCATTTTCCACATCAAGATCCTATTCAGAATACCACACTATATTGAGTTGGAATGTCTCCTTAGGCTCCTCTTGCCTGTGACAGTTTCTTAGACTTTCCTTATTTTTGATGACATTGACAGCTTTGAAGAGTACTGTCAGATAAATTGTAGCATGCTCCTCTCTTGGAGTTTGTTGGGTATTTTTTTCATGATTAGACTGGGATTGTGGGTTTTGAGGAGATGATCACAGAAGTAAAGTGCCATTTTCATCAGGTCATATCAAGGGTACGTACTGTCAACATGATTTGTGAATGCTGACAGGGACCTTGATAACCTGGCTGAGGTAGCGTTTGTCACTCTAAAGTTCTTCCTGCCCTTTCCATGCTGTCATTTTTGGAAGGAAGTCACTACATGCAGGAGTGAGGAGTCATAATTCCCCTTCTTTAGGGCAGAGAAGTATCTACATAAATAACTGGGAATTCTGTATAGAAAATTTGTTTCTTCTTTCTCAAATTCACTGTTGAGCTTTGGAATTCATCTGAGAAGGAATCATGTACTAATTACTTCATGATAGACTAGATTACCAGGCACAATCAGGGAAAAAAGCAGTGATAGTATGGTTAAATTGTTATTAGCATTTTCAGTATATCCACTTTATACATCCCCAATCATGATTTTTTTTACATTTCTTTTTAGAAAAGATGTTCAAGAAATCATTAAAGAACCCCAATAAGACTATATTCTAAATATTTATTGAAAGAATATAATTTCAGCTAAAATCCTAGAAGAGGGTTTGAAATAATTTAAAGAAAATGACCAAGTTTTTTTAAAACCTACGTTTCAAAATCTAAATGGATATGTGTTATTTGGGACACTTATTCATTATGATTATATAAGAAGACAATTCTTGTTTCCCTTATAAGTATGGACTGTATACATTAAGGAAAACAATGTTTAATCCTTATTTTTTAATACAGAAGTCTCAAGGTTCTTGTCAAATTTTGCCTTTATAAGCTTATTACAAAATTACAACTTACTTTACTGAAGTTTATAATGGAAGAAGTCCATATAGCAAAAGAGCTGTTTTAAATCAGAAGGAAAAAAGGTTACTCTGGTTGTTAATCTGCTTGGCAAATATTCCTTCATAATTTGTGAAAAGAATGCAAATCAGCATTTTAATATGAATTTTGAAATGAGGTATGGTTTTTTGTTTGTTTTTTTCAGAACTCAGTCTGAAAAACAACTGTGAGTGTAGCATGGGTCAAATTTGGTTTTTAGTCCATTTGCTTTATCAACATCACGGCTTCAGAAATCCAAATTTTGTTCTACTTTTCAGCCACCTTTCAAGGTGTTTGGTTATAATACTGTGTTGCTTTGAGGATATTTAGCCACTCATAAATAATTGTCTCAAGGTATTTAAAAGTGATTTGTGCCTTATTTTAATGCAAAATTAGCAGTTTTATTCTATTTTAAAAACAAAGGCAGAAAAACAATTCTGCATGTTATTCTTTAAAAACATCCAGAATAATACTACCAAGTATTTGTATTTCAAACCAGTAAAATTTTGAATATTCAAAGTCTGCTCTTAAACTTAGACTTCCTAGTATTATGGTGGTTATAGTGAGAATGAAATTAAACTGGGTGAGTTCCGAAATAAAGGAAAGTGTTATATTCTACAGTGCCCATATTTTCTATGGTAACTAAATCAAATATTTGTAAGTTCCTCTGCTTTTTGAAATTATTTTTCAAAGAAGCAACACCTGTTATACAACAGAATTGTATAAACTAAAAAGACTTTTGGCCTTGGTACATAGTCTTTATCTGGCCTGCAATGGAGTCATGGTTCTTTCTGAATCCCACTCTCACTTTTTTCTTTTTACCCTTAGATATTGCATCCGTGGTATTTCAGGGGTATAGAGAAATAATATTGGAATTTAGGAGCTATTTTTTTAAGTGAAAATATTACTAAGTGGTATCTTTTGATGATTACCTACTTTAATGTGTCTTAGAAAAGCACCAAAACATAGCATGATTATTTTTTCAGTTAATTAAAATTAGTTAATAACATGTTCATTTAAAAACTATTCATTGACTTTTTGTACCAGTCATATGCAGGGTACAGTAACTGAGGATATGGGAAATAAAATAACTGACATAGTCCCTGCTCTGAAGGAACAAAGGAAAAGGAATTGCAAATTTTTATTAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATGTGTTTTGCCTGGAAGTTATTAGCTGAGATTCTAACACACAAAAAGTTCAAAAAAAAAGAACAAAAACTGGCTGCTTAATTTAAAGCATGCTCTAAGTATGAACCATAGTATCATTTCTAATTTCATTAACTTTCTCAATTATTATGCTAAGTATATTATGCTGCTAAGATACCCACATTTAAGGGGCAGATTTAGAGACTCTTTTAGAAACTGAGTGTCTTTATCTTATTATCAGATAACCAGGCTGCACAGGGCTCTCTATAATGGAATGATGCTCCTTTTCAATACTTAGAGCCACTGTACTCAGTTTAGGAGTAACTGAAGGTGTGGATGCATGTTAATGGGAATCCAATTTTTACTATTTTTATATGAATAACAGCGTTCTGTAGAAACAGTCTCTCCCTTCTAAATAAAAACTATGTGACTGCTGTTACTAGTGCTATTCTATGCGAATATCCTAATAATAGGATTCAGGAATTCTAATGAATTGTTTCTTAATTAAGGTGAACAAGTAGACTCCTGATCAAGAGGAGAACACTGTGAATGTCTCATAATCAATAGACCTTCATTCTCTTGTAGAAAATGTGGATTTTCAGGAAAAGACTGATTATTTTCATGAATAAATTTTCTTATACAAATTCCATTTTGTTTGACATAAAAGACCCTGAATCTTAAGATATTTGTAAATCAGAATATTTAAGAATGTAAAATGAATCCCCAAATCTAGTTTCCTCCAAAGCACTTCTTAATGTAGGAAATAGTTTTTACAAACCCTATGTCAGTACTAATGTTCCTGGGTCAAACCCAGTAATATTGTTAGTGTATGTTGTTACACCTTATTTAAGAGGCAGAGTGGTTTTGAGCAAGTCAGTTAACGTGATTTGATGAAGAAATAAGGAATTATATACATTTAGACAGAAGAATATTTTATTTTGAAAATAGGATTTCGTGCAATAATTTTTCTTGCATAACTTAGTTCATATAAATATGTACATCTGTTTTTCTGGCAGATGCCTTAAGGTCATGTTTTTCAGTATTTGAGTAAATCTGTATGTAGCAATGTTCTCATTGATTTCAGAAAAAAATATATTCTTTATATTGTTGCCAGGAGAAATGTTTTTGTTTATTTAAAATTATTATGGATATTGTGTTGTTGTATCATAACTAACTGCCTCAGCAACAATAAATATGCAATAAGAAAATCCTGTACCTTAGATTAGATTGACAATACTGTTACTTTAAAAGAAATATATACGGTACAAATTGCTGATTCTACATGTGTACATTTAACAGATACTCAGTTCTGCACCACCTAAATCAAAATGGCATTTGTATGCTGATGATTACATATGTGGATTGTAGTATCCTTTGTGATGAATCTTTGATAAGATTTATAAAGGGCATTGCCAATACTTTTTGACTGTGTAAATTAATTTTTTGTATGATGTACAGTTTGTTTAATCTTAGAGCTTCTATAGATTTCTACTTTATTATACTTGAATGAGGCAGAAAAGCACTGTGGAAAATCTGTAGCTCTGGATGCAACATGCAGACATACCAAAAAAATAATAATAAAGCAAGGTACTGAAGAGCAATGTTAACAGAATGCTTTATATCCAGAATGCTATGTTTTTTTCAAGCCACATTTTAGTT)GAATGAAGTAAAGTTATTCAATCTTTTATTTTAAAATATTGGAAAGTCACAAATGATTACcTCTTTGATATGATGAACCTATAAGTCTATTCATCTCTGTTATTTCATTTCTCAAATGT|TGGACATTTATTTCTTCTGGGTCTCTCTGGACTTATTTATCTAGCATAGTTATGATGAAAACAGTTCTGTTCATGAGTCAGAACACTTGGGTTGGAGTCACATTCTGTCACTTATGATTTACCTTGTCTTGCCCAAGTCACTTTGCTTTGTTAATCTTTTGGTTTCCTAATATGTAAAATAGAGAAAATGTTCACCAAATTTGTTGTATAGTAGATATTTAAATGAAATAAAATACAG . 11BR075 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 9 4 0 360 34 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream duplicates(2),mismatches(1) ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCC)TTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGgTTTGGAG(GTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 11BR075 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 4 7 0 13 14 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . GCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGAC(CATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 11BR075 ENSG00000113522.14 ENSG00000271498.1(123484),ENSG00000201386.1(21539) +/+ ./- chr5:132595810 chr6:112949954 CDS/splice-site intergenic translocation 2 8 0 101 24 high out-of-frame . AAA_domain(100%),Rad50_zinc_hook_motif(100%)| . . ENSG00000113522.14 . ENST00000378823.8 . downstream downstream mismatches(1) ^(ACGTGATCCGCAGGGCGGCCGAGGCAGGAAGCTGTGAGTGCGCGGTTGCGGGGTCGCATTGTGGCTACGGCTTTGCGTCCCCGGCGGGCAGCCCCAGGCTGGTCCCCGCCTCCGCTCTCCCCACCGGCGGGGAAAGCAGCTGGTGTGGGAGGAAAGGCTCCATCCCCCGCCCCCTCTCTCCCGCTGTTGGCTGGCAGGATCTTTTGGCAGTCCTGTGGCCTCGCTCCCCGCCCGGATCCTCCTGACCCTGAGATTCGCGGGTCTCACGTCCCGTGCACGCCTTGCTTCGGCCTCAGTTAAGCCTTTGTGGGCTCCAGGTCCCTGGTGAGATTAGAAACGTTTGCAAACATGTCCCGGATCGAAAAGATGAGCATTCTGGGCGTGCGGAGTTTTGGAATAGAGGACAAAGATAAGCAAATTATCACTTTCTTCAGCCCCCTTACAATTTTGGTTGGACCCAATGGGGCGGGAAAGACG___ACCATCATTGAATGTCTAAAATATATTTGTACTGGAGATTTCCCTCCTGGAACCAAAGGAAATACATTTGTACACGATCCCAAG___GTTGCTCAAGAAACAGATGTGAGAGCCCAGATTCGTCTGCAATTTCGTGATGTCAATGGAGAACTTATAGCTGTGCAAAGATCTATGGTGTGTACTCAGAAAAGCAAAAAGACAGAATTTAAAACTCTGGAAGGAGTCATTACTAGAACAAA___GCATGGTGAAAAGGTCAGTCTGAGCTCTAAGTGTGCAGAAATTGACCGAGAAATGATCAGTTCTCTTGGGGTTTCCAAGGCTGTGCTAAATAATGTCATTTTCTGTCATCAAGAAGATTCTAATTGGCCTTTAAGTGAAGGAAAGGCTTTGAAGCAAAAGTTTGATGAGATTTTTTCAGCAACAAG___ATACATTAAAGCCTTAGAAACACTTCGGCAGGTACGTCAGACACAAGGTCAGAAAGTAAAAGAATATCAAATGGAACTAAAATATCTGAAGCAATATAAGGAAAAAGCTTGTGAGATTCGTGATCAGATTACAAGTAAGGAAGCCCAGTTAACATCTTCAAAGGAAATTGTCAAATCCTATGAGAATGAACTTGATCCATTGAAG___AATCGTCTAAAAGAAATTGAACATAATCTCTCTAAAATAATGAAACTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAG___GTTTTTCAAGGGACTGATGAGCAACTAAATGACTTATATCACAATCACCAGAGAACAGTAAGGGAGAAAGAAAGGAAATTGGTAGACTGTCATCGTGAACTGGAAAAACTAAATAAAGAATCTAGGCTTCTCAATCAGGAAAAATCAGAACTGCTTGTTGAACAGG___GTCGTCTACAGCTGCAAGCAGATCGCCATCAAGAACATATCCGAGCTAGAGATTCATTAATTCAGTCTTTGGCAACACAGCTAGAATTGGATGGCTTTGAGCGTGGACCATTCAGTGAAAGACAGATTAAAAATTTTCACAAACTTGTGAGAGAGAGACAAGAAGGGGAAGCAAAAACTGCCAACCAACTGATG___AATGACTTTGCAGAAAAAGAGACTCTGAAACAAAAACAGATAGATGAGATAAGAGATAAGAAAACTGGACTGGGAAGAATAATTGAGTTAAAATCAGAAATCCTAAGTAAGAAGCAGAATGAGCTGAAAAATGTGAAGTATGAATTACAGCAGTTGGAAGGATCTTCAGACAGGATTCTTGAACTGGACCAGGAGCTCATAAAAGCT___GAACGTGAGTTAAGCAAGGCTGAGAAAAACAGCAATGTAGAAACCTTAAAAATGGAAGTAATAAGTCTCCAAAATGAAAAAGCAGACTTAGACAGGACCCTGCGTAAACTTGACCAGGAGATGGAGCAGTTAAACCATCATACAACAACACGTACCCAAATGGAGATGCTGACCAAAGACAAA___GCTGACAAAGATGAACAAATCAGAAAAATAAAATCTAGGCACAGTGATGAATTAACCTCACTGTTGGGATATTTTCCCAACAAAAAACAGCTTGAAGACTGGCTACATAGTAAATCAAAAGAAATTAATCAGACCAGGGACAGACTTGCCAAATTGAA___CAAGGAACTAGCTTCATCTGAGCAGAATAAAAATCATATAAATAATGAACTAAAAAGAAAGGAAGAGCAGTTGTCCAGTTACGAAGACAAGCTGTTTGATGTTTGTGGTAGCCAGGATTTTGAAAGTGATTTAGACAGGCTTAAAGAGGAAATTGAAAAATCATCAAAACAGCGAG___)CCATGCTGGCTGGAGCCACAGCAGTTTACTCCCAGTTCATTACTCAGCTAACAGACGAAAACCAGTCATGTTGCCCCGTTTGTCAGAGAGTTTTTCAGACAGAGGCTGAGTTACAAGAAGTCATCAGTGATTTGCAGTCTAAACTGCGACTTGCTCCAGATAAACTCAAGTCAACAGAATCAGAGCTAAAAAAAAAGGAAAAGCGGCGTGATGAAATGCTGGGACTTGTGCCCATGAG|ACTTTATACACAGTTGACCCTTGAACAGCACAACAGGACTGCAGTTGTGCACTTCTATGTAGATTCTGTTCAACAAAGCACCGATGGAAAATACAGCATTTACAAGATGAGAAACCCGAGTACACAGAGG MSRIEKMSILGVRSFGIEDKDKQIITFFSPLTILVGPNGAGKTTIIECLKYICTGDFPPGTKGNTFVHDPKVAQETDVRAQIRLQFRDVNGELIAVQRSMVCTQKSKKTEFKTLEGVITRTKHGEKVSLSSKCAEIDREMISSLGVSKAVLNNVIFCHQEDSNWPLSEGKALKQKFDEIFSATRYIKALETLRQVRQTQGQKVKEYQMELKYLKQYKEKACEIRDQITSKEAQLTSSKEIVKSYENELDPLKNRLKEIEHNLSKIMKLDNEIKALDSRKKQMEKDNSELEEKMEKVFQGTDEQLNDLYHNHQRTVREKERKLVDCHRELEKLNKESRLLNQEKSELLVEQGRLQLQADRHQEHIRARDSLIQSLATQLELDGFERGPFSERQIKNFHKLVRERQEGEAKTANQLMNDFAEKETLKQKQIDEIRDKKTGLGRIIELKSEILSKKQNELKNVKYELQQLEGSSDRILELDQELIKAERELSKAEKNSNVETLKMEVISLQNEKADLDRTLRKLDQEMEQLNHHTTTRTQMEMLTKDKADKDEQIRKIKSRHSDELTSLLGYFPNKKQLEDWLHSKSKEINQTRDRLAKLNKELASSEQNKNHINNELKRKEEQLSSYEDKLFDVCGSQDFESDLDRLKEEIEKSSKQRAMLAGATAVYSQFITQLTDENQSCCPVCQRVFQTEAELQEVISDLQSKLRLAPDKLKSTESELKKKEKRRDEMLGLVPMr|lytqltleqhnrtavvhfyvdsvqqstdgkysiykmrnpstq 11BR075 ENSG00000283782.2 ENSG00000271498.1(123484),ENSG00000201386.1(21539) +/+ ./- chr5:132595810 chr6:112949954 CDS/splice-site intergenic translocation 2 8 0 101 24 high out-of-frame . . . . ENSG00000283782.2 . ENST00000638452.2 . downstream downstream mismatches(1) ^(GCCCGCCGCGCGCCCCGCGTTCACTGCGCGCTCGGCCCCGGTCCCGCCTCCCGGAGGGTTTCGCTTTCGCTTTCCTGCCGATGTCGTTGAGGAAAATGAAAGCGGTCGTGGCCAGGACTGGCGCAGCTGCCGTTTCAGGCGAGGGGCGCAGAATGCAGCGGCCGCCAGCCTGGAGCGCGGGCCCTGGGGCCGCAACCCGCGCCGGGCGAG___GTGGCAGCACACCCTGGGCCCCCCACTCCCCGCCGCAAGTCCTGAGGATGGCCAGCAGAGAAACAAGAAAATGGACTCCCTGGCTGCTGGAGAGTTGAATGCCAGCCACCAGCCATGG___GTGCCAGAGTTTGTAGCCTATTGGAGGAAAACACACCAAG___ACCATCATTGAATGTCTAAAATATATTTGTACTGGAGATTTCCCTCCTGGAACCAAAGGAAATACATTTGTACACGATCCCAAG___GTTGCTCAAGAAACAGATGTGAGAGCCCAGATTCGTCTGCAATTTCGTGATGTCAATGGAGAACTTATAGCTGTGCAAAGATCTATGGTGTGTACTCAGAAAAGCAAAAAGACAGAATTTAAAACTCTGGAAGGAGTCATTACTAGAACAAA___GCATGGTGAAAAGGTCAGTCTGAGCTCTAAGTGTGCAGAAATTGACCGAGAAATGATCAGTTCTCTTGGGGTTTCCAAGGCTGTGCTAAATAATGTCATTTTCTGTCATCAAGAAGATTCTAATTGGCCTTTAAGTGAAGGAAAGGCTTTGAAGCAAAAGTTTGATGAGATTTTTTCAGCAACAAG___ATACATTAAAGCCTTAGAAACACTTCGGCAGGTACGTCAGACACAAGGTCAGAAAGTAAAAGAATATCAAATGGAACTAAAATATCTGAAGCAATATAAGGAAAAAGCTTGTGAGATTCGTGATCAGATTACAAGTAAGGAAGCCCAGTTAACATCTTCAAAGGAAATTGTCAAATCCTATGAGAATGAACTTGATCCATTGAAG___AATCGTCTAAAAGAAATTGAACATAATCTCTCTAAAATAATGAAACTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAG___GTTTTTCAAGGGACTGATGAGCAACTAAATGACTTATATCACAATCACCAGAGAACAGTAAGGGAGAAAGAAAGGAAATTGGTAGACTGTCATCGTGAACTGGAAAAACTAAATAAAGAATCTAGGCTTCTCAATCAGGAAAAATCAGAACTGCTTGTTGAACAGG___GTCGTCTACAGCTGCAAGCAGATCGCCATCAAGAACATATCCGAGCTAGAGATTCATTAATTCAGTCTTTGGCAACACAGCTAGAATTGGATGGCTTTGAGCGTGGACCATTCAGTGAAAGACAGATTAAAAATTTTCACAAACTTGTGAGAGAGAGACAAGAAGGGGAAGCAAAAACTGCCAACCAACTGATG___AATGACTTTGCAGAAAAAGAGACTCTGAAACAAAAACAGATAGATGAGATAAGAGATAAGAAAACTGGACTGGGAAGAATAATTGAGTTAAAATCAGAAATCCTAAGTAAGAAGCAGAATGAGCTGAAAAATGTGAAGTATGAATTACAGCAGTTGGAAGGATCTTCAGACAGGATTCTTGAACTGGACCAGGAGCTCATAAAAGCT___GAACGTGAGTTAAGCAAGGCTGAGAAAAACAGCAATGTAGAAACCTTAAAAATGGAAGTAATAAGTCTCCAAAATGAAAAAGCAGACTTAGACAGGACCCTGCGTAAACTTGACCAGGAGATGGAGCAGTTAAACCATCATACAACAACACGTACCCAAATGGAGATGCTGACCAAAGACAAA___GCTGACAAAGATGAACAAATCAGAAAAATAAAATCTAGGCACAGTGATGAATTAACCTCACTGTTGGGATATTTTCCCAACAAAAAACAGCTTGAAGACTGGCTACATAGTAAATCAAAAGAAATTAATCAGACCAGGGACAGACTTGCCAAATTGAA___CAAGGAACTAGCTTCATCTGAGCAGAATAAAAATCATATAAATAATGAACTAAAAAGAAAGGAAGAGCAGTTGTCCAGTTACGAAGACAAGCTGTTTGATGTTTGTGGTAGCCAGGATTTTGAAAGTGATTTAGACAGGCTTAAAGAGGAAATTGAAAAATCATCAAAACAGCGAG___)CCATGCTGGCTGGAGCCACAGCAGTTTACTCCCAGTTCATTACTCAGCTAACAGACGAAAACCAGTCATGTTGCCCCGTTTGTCAGAGAGTTTTTCAGACAGAGGCTGAGTTACAAGAAGTCATCAGTGATTTGCAGTCTAAACTGCGACTTGCTCCAGATAAACTCAAGTCAACAGAATCAGAGCTAAAAAAAAAGGAAAAGCGGCGTGATGAAATGCTGGGACTTGTGCCCATGAG|ACTTTATACACAGTTGACCCTTGAACAGCACAACAGGACTGCAGTTGTGCACTTCTATGTAGATTCTGTTCAACAAAGCACCGATGGAAAATACAGCATTTACAAGATGAGAAACCCGAGTACACAGAGG MVCTQKSKKTEFKTLEGVITRTKHGEKVSLSSKCAEIDREMISSLGVSKAVLNNVIFCHQEDSNWPLSEGKALKQKFDEIFSATRYIKALETLRQVRQTQGQKVKEYQMELKYLKQYKEKACEIRDQITSKEAQLTSSKEIVKSYENELDPLKNRLKEIEHNLSKIMKLDNEIKALDSRKKQMEKDNSELEEKMEKVFQGTDEQLNDLYHNHQRTVREKERKLVDCHRELEKLNKESRLLNQEKSELLVEQGRLQLQADRHQEHIRARDSLIQSLATQLELDGFERGPFSERQIKNFHKLVRERQEGEAKTANQLMNDFAEKETLKQKQIDEIRDKKTGLGRIIELKSEILSKKQNELKNVKYELQQLEGSSDRILELDQELIKAERELSKAEKNSNVETLKMEVISLQNEKADLDRTLRKLDQEMEQLNHHTTTRTQMEMLTKDKADKDEQIRKIKSRHSDELTSLLGYFPNKKQLEDWLHSKSKEINQTRDRLAKLNKELASSEQNKNHINNELKRKEEQLSSYEDKLFDVCGSQDFESDLDRLKEEIEKSSKQRAMLAGATAVYSQFITQLTDENQSCCPVCQRVFQTEAELQEVISDLQSKLRLAPDKLKSTESELKKKEKRRDEMLGLVPMr|lytqltleqhnrtavvhfyvdsvqqstdgkysiykmrnpstq 11BR075 ENSG00000113269.14 ENSG00000248717.1(2867),ENSG00000236791.2(3419) -/- ./- chr5:179978203 chr5:180689413 CDS/splice-site intergenic duplication 3 4 0 217 5 high out-of-frame . PA_domain(100%),Ring_finger_domain(100%)| . . ENSG00000113269.14 . ENST00000522208.6 . upstream downstream . ^(GGCGGCTGCCGGAGGGACGATGAGCTGCGCGGGGCGGGCGGGCCCTGCCCGGCTCGCCGCGCTCGCCCTGCTGACCTGCAGCCTGTGGCCGGCACGGGCAGACAACGCGAGCCAGGAGTACTACACGGCGCTCATCAACGTGACGGTGCAGGAGCCCGGCCGCGGCGCCCCGCTCACGTTTCGCATCGACCGCGGGCGCTACGGGCTTGACTCCCCCAAGGCCGAGGTCCGCGGCCAGGTGCTGGCGCCGCTGCCCCTCCACGGAG___TTGCTGATCATCTGGGCTGTGATCCACAAACCCGGTTCTTTGTCCCTCCTAATATCAAACAGTGGATTGCCTTGCTGCAGAGGGGAAACTGCACGTTTAAAGAGAAAATATCACGGGCCGCTTTCCACAATGCAGTTGCTGTAGTCATCTACAATAATAAATCCAAAGAGGAGCCAGTTACCATGACTCATCCAG___GCACTGGAGATATTATTGCTGTCATGATAACAGAATTGAGGGGTAAGGATATTTTGAGTTATCTGGAGAAAAACATCTCTGTACAAATGACAATAGCTGTTGGAACTCGAATGCCACCGAAGAACTTCAGCCGTGGCTCTCTAGTCTTCGT)GTCAATATCCTTTATTGTTTTGATGATTATTTCTTCAGCATGGCTCATATTCTACTTCATTCAGAAGATCAGGTACACAAATGCACGCGACAGGAACCAG___CGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAG___GAAACTGACCCAGACTTTGATCATTGTGCAGTCTGCATAGAGAGCTATAAGCAGAATGATGTCGTCCGAATTCTCCCCTGCAA|ATAACTCCTTGGATCAGCAGGAATCTACGCACAGATTTAGAGCGCATATGCGCCCTGATCCTAATTTGCCCCCTGAAGAGCAGCGACGTAGAGGTACTGTGGAAATTCAGTTACTCACCCTCGCAAGCATAAGGATTCCACATTCTTCAGTGTCCCACACTTCAGACCACTCTGACGTTGCTACACTGTATCTTCTTTATTTCATGTGTGCAAATTGACTAGTGTAGCACTAGTCAGTCACTAGTGACTGTATTTCCGC MSCAGRAGPARLAALALLTCSLWPARADNASQEYYTALINVTVQEPGRGAPLTFRIDRGRYGLDSPKAEVRGQVLAPLPLHGVADHLGCDPQTRFFVPPNIKQWIALLQRGNCTFKEKISRAAFHNAVAVVIYNNKSKEEPVTMTHPGTGDIIAVMITELRGKDILSYLEKNISVQMTIAVGTRMPPKNFSRGSLVFVSISFIVLMIISSAWLIFYFIQKIRYTNARDRNQRRLGDAAKKAISKLTTRTVKKGDKETDPDFDHCAVCIESYKQNDVVRILPCk|* 11BR075 ENSG00000143473.13 ENSG00000144331.20 -/- -/- chr1:211103496 chr2:179544969 CDS/splice-site CDS/splice-site translocation 3 3 0 9 11 high in-frame . PAS_domain(100%)|Zinc-finger_of_C2H2_type(100%) . . ENSG00000143473.13 ENSG00000144331.20 ENST00000367007.5 ENST00000410066.7 upstream downstream . ^(AGGGAGGGAGGCGCGAAGAGGGCGCGAGGGTAGCAGCCAGAGGGAGCCGCCAGCCCTGCCTGCGGATCCCCGCCGGGCGCATGGGGCGCTTCGAGCCGGGACTGCGTGCGGGCCCCGAGGCCAGTTTCCTGCTGTCGTAAGAAGCCGCGCCAGGACGCCCGCCGGACCCCGAGCTGCTGGGAGGATGACCATGGCTGGGGGCAGGAGGGGACTAGTGGCCCCTCAAAACACGTTTCTGGAGAATATTGTTCGGCGGTCCAATG___ATACTAATTTTGTGTTGGGGAATGCTCAGATAGTGGACTGGCCTATTGTGTACAGCAATGATGGATTTTGCAAGCTGTCTGGCTATCACAGG)GCAGAAGTGATGCAAAAAAGCAGCACCTGCAG___TTTTATGTATGGGGAGCTGACTGATAAAGACACGATTGAAAAAGTGCGGCAAACATTTGAGAACTATGAGATGAATTCCTTTGAAATTCTGATGTACAAGAAGAACA|GCAGTACATGCCACACTACTACCCTTCCTGCTCTTGTGCGCACACCTACCCTGATGATGCAGCCTTCACTGGATATCAAACCATTTATGTCTTTTCCAGTGGACAGTAGTTCTGCTGTTGGGCTCTTTCCAAATTTTAACACA(___ATGGATCCTGTGCAAAAAGCGGTTATTAACCATACATTTGGAGTATCCATTCCCCCAAAGAAGAAACAAGTTATTTCTTGTAATGTCTGTCAGCTTCGCTTTAACTCAGAT___AGCCAGGCCGAGGCCCACTACAAAGGAAGTAAACATGCCAAGAAGGTCAAAGCACTAGACGCAACGAAAAATAAACCCAAAATGGTTCCTTCCAAGGACAGCGCAAAGGCTAATCCCAGCTGCTCCATCACTCCAATCACAGGCAACAACTCTGACAAATCAG___AAGATAAAGGGAAGTTAAAAGCCAGCAGTTCCAGTCAGCCATCAAGCTCTGAAAGTGGCTCATTTCTCCTCAAATCTGGCACAACACCCCTGCCACCTGGAGCAGCCACTTCTCCCTCCAAGAGCACAAATGGAGCTCCCGGTACTGTTGTTGAATCAGAAGAAGAAAAAGCCAAAAAATTACTTTATTGTTCACTATGCAAAGTGGCTGTGAACTCCCTGTCACAGCTAGAGGCACACAACACAG___GATCTAAACACAAGACCATGGTTGAAGCTCGTAATGGGGCTGGTCCAATTAAATCCTATCCTAGACCTGGATCAAGATTAAAGATGCAGAATGGCAGTAAGGGGTCAGGACTACAGAACAAGACATTTCATTGTGAAATCTGTGATGTTCATGTTAATTCAGAAATTCAACTCAAACAG___CACATTTCTAGCCGAAGGCATAAAGATCGAGTTGCAGGGAAACCACTGAAGCCAAAATACAGCCCTTACAACAAACTCCAGCGGAGCCCGAGTATTCTAGCA___GCAAAACTTGCATTCCAGAAAGATATGATGAAGCCTTTGGCCCCAGCCTTCCTGTCCTCACCTCTCGCAGCGGCGGCAGCCGTGTCCTCAGCGCTGTCACTCCCACCCCGGCCCTCTGCCTCGCTCTTCCAGGCTCCAGCCATTCCTCCAGCTCTTCTGAGGCCTGGGCATGGGCCCATCCGCGCCACTCCTGCCTCCATCCTCTTTGCTCCGTACTAACGTCTGCAAACCCCAAGACGTTTGAGGCCAGTAGGAAGTTGAGAAAGAAAGCCACAAGGATTCAGCAATTTAAGCAGTTTGTGTTGCAGTACCCCCCATTCACCCACAAAATGCAGCCCACCACCCAGTCCCCCAATTCCAGAGAGAAACACATCACTAGATTGACGAGGGCTTTTAGAGACTGCTCCTATAATTGAGGAATCAGCAGCATAGGCTTTATCTCCCTACTTCCTCCCCCACCCTACCGCGTTCAATTTGTGTATCTCAGATATTTGATTTCTTGAGCATGTATTGGTCAGAAAGAAAAAGAAAGAAAACCATTCTCTATTTTTCCATGGGTATGATCTGGCTTAAAACAATATGGAATATTTTCCTGACAGACTTGAAAACTAGGATCTTCCTCAGATGTCTGTAAATAACTCTGGTATCCAACTGGGTGTATTCTAGTGTGGAACAAAAAACAGTGAACACAAGTGCTTACTTGTGGATACTATCTTACCAACGGATCACAAAGTTCTCTTTTTGGTGTACTGTTGTTGACAGGGATTGTGTACTGTTTCGACCCAAGTACTGCTGTATCCTGTGTAGTACTAGATCTGTATCTCTTGTCTGAATTAAACATTTTTAGTTGCTGTGTAAATGTTAGGAAGCAAAGTAGCTTTGAATTTTCTCTGTAAGAGAATAAAAGATAAAATAATGTATTTTCTTTATTTCACATTTTATTTGGAGATATTTAAATGAAATAGAAAGCCATATAACATAGCTATAATTACTACCTGTTTGCTATTTTTGTTTAACTTATTTTGTAGCTTCCTCACTGGTTTGTGTTGCTAAGCAAACGTATACAAACAGAAAAAGAGCTTCCTAAATTGCACATTTTTGCACCTCTTGTGCATTCTGCAAGAAGACAATGAATCCATGTATTTCTATATAAGTATCTTCTTCATTTTTAACCTGTTTTCATTTGTAATGATGCTACATAATTTTGTGGCTCCCTAATGCAATAATGTACAGAAGATAAAAAAATTTATAATTGAACAATTTGTCTTTCTGTTCGCTGAATATATTGCAGGTCATGCTCCCATGCCCCCCTTTCTAAGCCGATATCAACAAGACTGGAATGTTTGTGATATCAGGGGCAAGAGTTATCATAGAACAACAAAATAGAGTGGACTCTTTTAGAGCATCTATATCTGCAACCTGTAAATGGTAAAATGTCTGTGTATTTTTTTAAATGTACCTTTTCAATAAAAGTACAAAAAATAAAA)$ MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKN|sSTCHTTTLPALVRTPTLMMQPSLDIKPFMSFPVDSSSAVGLFPNFNTMDPVQKAVINHTFGVSIPPKKKQVISCNVCQLRFNSDSQAEAHYKGSKHAKKVKALDATKNKPKMVPSKDSAKANPSCSITPITGNNSDKSEDKGKLKASSSSQPSSSESGSFLLKSGTTPLPPGAATSPSKSTNGAPGTVVESEEEKAKKLLYCSLCKVAVNSLSQLEAHNTGSKHKTMVEARNGAGPIKSYPRPGSRLKMQNGSKGSGLQNKTFHCEICDVHVNSEIQLKQHISSRRHKDRVAGKPLKPKYSPYNKLQRSPSILAAKLAFQKDMMKPLAPAFLSSPLAAAAAVSSALSLPPRPSASLFQAPAIPPALLRPGHGPIRATPASILFAPY* 11BR075 ENSG00000284299.1 ENSG00000144331.20 -/- -/- chr1:211103496 chr2:179544969 CDS/splice-site CDS/splice-site translocation 3 3 0 9 11 high in-frame . |Zinc-finger_of_C2H2_type(100%) . . ENSG00000284299.1 ENSG00000144331.20 ENST00000638983.1 ENST00000410066.7 upstream downstream . ^(ACTGCGAGGCGGGCCGCAGGGAGGGAGGCGCGAAGAGGGCGCGAGGGTAGCAGCCAGAGGGAGCCGCCAGCCCTGCCTGCGGATCCCCGCCGGGCGCATGGGGCGCTTCGAGCCGGGACTGCGTGCGGGCCCCGAGGCCAGTTTCCTGCTGTCGTAAGAAGCCGCGCCAGGACGCCCGCCGGACCCCGAGCTGCTGGGAGGATGACCATGGCTGGGGGCAGGAGGGGACTAGTGGCCCCTCAAAACACGTTTCTGGAGAATATTGTTCGGCGGTCCAATG___ATACTAATTTTGTGTTGGGGAATGCTCAGATAGTGGACTGGCCTATTGTGTACAGCAATGATGGATTTTGCAAGCTGTCTGGCTATCACAGG)GCAGAAGTGATGCAAAAAAGCAGCACCTGCAG___TTTTATGTATGGGGAGCTGACTGATAAAGACACGATTGAAAAAGTGCGGCAAACATTTGAGAACTATGAGATGAATTCCTTTGAAATTCTGATGTACAAGAAGAACA|GCAGTACATGCCACACTACTACCCTTCCTGCTCTTGTGCGCACACCTACCCTGATGATGCAGCCTTCACTGGATATCAAACCATTTATGTCTTTTCCAGTGGACAGTAGTTCTGCTGTTGGGCTCTTTCCAAATTTTAACACA(___ATGGATCCTGTGCAAAAAGCGGTTATTAACCATACATTTGGAGTATCCATTCCCCCAAAGAAGAAACAAGTTATTTCTTGTAATGTCTGTCAGCTTCGCTTTAACTCAGAT___AGCCAGGCCGAGGCCCACTACAAAGGAAGTAAACATGCCAAGAAGGTCAAAGCACTAGACGCAACGAAAAATAAACCCAAAATGGTTCCTTCCAAGGACAGCGCAAAGGCTAATCCCAGCTGCTCCATCACTCCAATCACAGGCAACAACTCTGACAAATCAG___AAGATAAAGGGAAGTTAAAAGCCAGCAGTTCCAGTCAGCCATCAAGCTCTGAAAGTGGCTCATTTCTCCTCAAATCTGGCACAACACCCCTGCCACCTGGAGCAGCCACTTCTCCCTCCAAGAGCACAAATGGAGCTCCCGGTACTGTTGTTGAATCAGAAGAAGAAAAAGCCAAAAAATTACTTTATTGTTCACTATGCAAAGTGGCTGTGAACTCCCTGTCACAGCTAGAGGCACACAACACAG___GATCTAAACACAAGACCATGGTTGAAGCTCGTAATGGGGCTGGTCCAATTAAATCCTATCCTAGACCTGGATCAAGATTAAAGATGCAGAATGGCAGTAAGGGGTCAGGACTACAGAACAAGACATTTCATTGTGAAATCTGTGATGTTCATGTTAATTCAGAAATTCAACTCAAACAG___CACATTTCTAGCCGAAGGCATAAAGATCGAGTTGCAGGGAAACCACTGAAGCCAAAATACAGCCCTTACAACAAACTCCAGCGGAGCCCGAGTATTCTAGCA___GCAAAACTTGCATTCCAGAAAGATATGATGAAGCCTTTGGCCCCAGCCTTCCTGTCCTCACCTCTCGCAGCGGCGGCAGCCGTGTCCTCAGCGCTGTCACTCCCACCCCGGCCCTCTGCCTCGCTCTTCCAGGCTCCAGCCATTCCTCCAGCTCTTCTGAGGCCTGGGCATGGGCCCATCCGCGCCACTCCTGCCTCCATCCTCTTTGCTCCGTACTAACGTCTGCAAACCCCAAGACGTTTGAGGCCAGTAGGAAGTTGAGAAAGAAAGCCACAAGGATTCAGCAATTTAAGCAGTTTGTGTTGCAGTACCCCCCATTCACCCACAAAATGCAGCCCACCACCCAGTCCCCCAATTCCAGAGAGAAACACATCACTAGATTGACGAGGGCTTTTAGAGACTGCTCCTATAATTGAGGAATCAGCAGCATAGGCTTTATCTCCCTACTTCCTCCCCCACCCTACCGCGTTCAATTTGTGTATCTCAGATATTTGATTTCTTGAGCATGTATTGGTCAGAAAGAAAAAGAAAGAAAACCATTCTCTATTTTTCCATGGGTATGATCTGGCTTAAAACAATATGGAATATTTTCCTGACAGACTTGAAAACTAGGATCTTCCTCAGATGTCTGTAAATAACTCTGGTATCCAACTGGGTGTATTCTAGTGTGGAACAAAAAACAGTGAACACAAGTGCTTACTTGTGGATACTATCTTACCAACGGATCACAAAGTTCTCTTTTTGGTGTACTGTTGTTGACAGGGATTGTGTACTGTTTCGACCCAAGTACTGCTGTATCCTGTGTAGTACTAGATCTGTATCTCTTGTCTGAATTAAACATTTTTAGTTGCTGTGTAAATGTTAGGAAGCAAAGTAGCTTTGAATTTTCTCTGTAAGAGAATAAAAGATAAAATAATGTATTTTCTTTATTTCACATTTTATTTGGAGATATTTAAATGAAATAGAAAGCCATATAACATAGCTATAATTACTACCTGTTTGCTATTTTTGTTTAACTTATTTTGTAGCTTCCTCACTGGTTTGTGTTGCTAAGCAAACGTATACAAACAGAAAAAGAGCTTCCTAAATTGCACATTTTTGCACCTCTTGTGCATTCTGCAAGAAGACAATGAATCCATGTATTTCTATATAAGTATCTTCTTCATTTTTAACCTGTTTTCATTTGTAATGATGCTACATAATTTTGTGGCTCCCTAATGCAATAATGTACAGAAGATAAAAAAATTTATAATTGAACAATTTGTCTTTCTGTTCGCTGAATATATTGCAGGTCATGCTCCCATGCCCCCCTTTCTAAGCCGATATCAACAAGACTGGAATGTTTGTGATATCAGGGGCAAGAGTTATCATAGAACAACAAAATAGAGTGGACTCTTTTAGAGCATCTATATCTGCAACCTGTAAATGGTAAAATGTCTGTGTATTTTTTTAAATGTACCTTTTCAATAAAAGTACAAAAAATAAAA)$ MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKN|sSTCHTTTLPALVRTPTLMMQPSLDIKPFMSFPVDSSSAVGLFPNFNTMDPVQKAVINHTFGVSIPPKKKQVISCNVCQLRFNSDSQAEAHYKGSKHAKKVKALDATKNKPKMVPSKDSAKANPSCSITPITGNNSDKSEDKGKLKASSSSQPSSSESGSFLLKSGTTPLPPGAATSPSKSTNGAPGTVVESEEEKAKKLLYCSLCKVAVNSLSQLEAHNTGSKHKTMVEARNGAGPIKSYPRPGSRLKMQNGSKGSGLQNKTFHCEICDVHVNSEIQLKQHISSRRHKDRVAGKPLKPKYSPYNKLQRSPSILAAKLAFQKDMMKPLAPAFLSSPLAAAAAVSSALSLPPRPSASLFQAPAIPPALLRPGHGPIRATPASILFAPY* 11BR075 ENSG00000283952.1 ENSG00000144331.20 -/- -/- chr1:211103496 chr2:179544969 CDS/splice-site CDS/splice-site translocation 3 3 0 9 11 high in-frame . |Zinc-finger_of_C2H2_type(100%) . . ENSG00000283952.1 ENSG00000144331.20 ENST00000638880.1 ENST00000410066.7 upstream downstream . ^(GTGTGAGGAGCATCCTTCCAGGGGTCAACCTGACCAG___TGATGGTTCTTCTGCCAGCCTGCCGCCATGGGATTGCTCTGTAT___AAGAAGACAGGTGCATTCTGGAAACTTGAATCACTAAGGGGAGGAGCTTCAATTTTGATCCCAGATAT___ATACTAATTTTGTGTTGGGGAATGCTCAGATAGTGGACTGGCCTATTGTGTACAGCAATGATGGATTTTGCAAGCTGTCTGGCTATCACAGG)GCAGAAGTGATGCAAAAAAGCAGCACCTGCAG___TTTTATGTATGGGGAGCTGACTGATAAAGACACGATTGAAAAAGTGCGGCAAACATTTGAGAACTATGAGATGAATTCCTTTGAAATTCTGATGTACAAGAAGAACA|GCAGTACATGCCACACTACTACCCTTCCTGCTCTTGTGCGCACACCTACCCTGATGATGCAGCCTTCACTGGATATCAAACCATTTATGTCTTTTCCAGTGGACAGTAGTTCTGCTGTTGGGCTCTTTCCAAATTTTAACACA(___ATGGATCCTGTGCAAAAAGCGGTTATTAACCATACATTTGGAGTATCCATTCCCCCAAAGAAGAAACAAGTTATTTCTTGTAATGTCTGTCAGCTTCGCTTTAACTCAGAT___AGCCAGGCCGAGGCCCACTACAAAGGAAGTAAACATGCCAAGAAGGTCAAAGCACTAGACGCAACGAAAAATAAACCCAAAATGGTTCCTTCCAAGGACAGCGCAAAGGCTAATCCCAGCTGCTCCATCACTCCAATCACAGGCAACAACTCTGACAAATCAG___AAGATAAAGGGAAGTTAAAAGCCAGCAGTTCCAGTCAGCCATCAAGCTCTGAAAGTGGCTCATTTCTCCTCAAATCTGGCACAACACCCCTGCCACCTGGAGCAGCCACTTCTCCCTCCAAGAGCACAAATGGAGCTCCCGGTACTGTTGTTGAATCAGAAGAAGAAAAAGCCAAAAAATTACTTTATTGTTCACTATGCAAAGTGGCTGTGAACTCCCTGTCACAGCTAGAGGCACACAACACAG___GATCTAAACACAAGACCATGGTTGAAGCTCGTAATGGGGCTGGTCCAATTAAATCCTATCCTAGACCTGGATCAAGATTAAAGATGCAGAATGGCAGTAAGGGGTCAGGACTACAGAACAAGACATTTCATTGTGAAATCTGTGATGTTCATGTTAATTCAGAAATTCAACTCAAACAG___CACATTTCTAGCCGAAGGCATAAAGATCGAGTTGCAGGGAAACCACTGAAGCCAAAATACAGCCCTTACAACAAACTCCAGCGGAGCCCGAGTATTCTAGCA___GCAAAACTTGCATTCCAGAAAGATATGATGAAGCCTTTGGCCCCAGCCTTCCTGTCCTCACCTCTCGCAGCGGCGGCAGCCGTGTCCTCAGCGCTGTCACTCCCACCCCGGCCCTCTGCCTCGCTCTTCCAGGCTCCAGCCATTCCTCCAGCTCTTCTGAGGCCTGGGCATGGGCCCATCCGCGCCACTCCTGCCTCCATCCTCTTTGCTCCGTACTAACGTCTGCAAACCCCAAGACGTTTGAGGCCAGTAGGAAGTTGAGAAAGAAAGCCACAAGGATTCAGCAATTTAAGCAGTTTGTGTTGCAGTACCCCCCATTCACCCACAAAATGCAGCCCACCACCCAGTCCCCCAATTCCAGAGAGAAACACATCACTAGATTGACGAGGGCTTTTAGAGACTGCTCCTATAATTGAGGAATCAGCAGCATAGGCTTTATCTCCCTACTTCCTCCCCCACCCTACCGCGTTCAATTTGTGTATCTCAGATATTTGATTTCTTGAGCATGTATTGGTCAGAAAGAAAAAGAAAGAAAACCATTCTCTATTTTTCCATGGGTATGATCTGGCTTAAAACAATATGGAATATTTTCCTGACAGACTTGAAAACTAGGATCTTCCTCAGATGTCTGTAAATAACTCTGGTATCCAACTGGGTGTATTCTAGTGTGGAACAAAAAACAGTGAACACAAGTGCTTACTTGTGGATACTATCTTACCAACGGATCACAAAGTTCTCTTTTTGGTGTACTGTTGTTGACAGGGATTGTGTACTGTTTCGACCCAAGTACTGCTGTATCCTGTGTAGTACTAGATCTGTATCTCTTGTCTGAATTAAACATTTTTAGTTGCTGTGTAAATGTTAGGAAGCAAAGTAGCTTTGAATTTTCTCTGTAAGAGAATAAAAGATAAAATAATGTATTTTCTTTATTTCACATTTTATTTGGAGATATTTAAATGAAATAGAAAGCCATATAACATAGCTATAATTACTACCTGTTTGCTATTTTTGTTTAACTTATTTTGTAGCTTCCTCACTGGTTTGTGTTGCTAAGCAAACGTATACAAACAGAAAAAGAGCTTCCTAAATTGCACATTTTTGCACCTCTTGTGCATTCTGCAAGAAGACAATGAATCCATGTATTTCTATATAAGTATCTTCTTCATTTTTAACCTGTTTTCATTTGTAATGATGCTACATAATTTTGTGGCTCCCTAATGCAATAATGTACAGAAGATAAAAAAATTTATAATTGAACAATTTGTCTTTCTGTTCGCTGAATATATTGCAGGTCATGCTCCCATGCCCCCCTTTCTAAGCCGATATCAACAAGACTGGAATGTTTGTGATATCAGGGGCAAGAGTTATCATAGAACAACAAAATAGAGTGGACTCTTTTAGAGCATCTATATCTGCAACCTGTAAATGGTAAAATGTCTGTGTATTTTTTTAAATGTACCTTTTCAATAAAAGTACAAAAAATAAAA)$ MQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKN|sSTCHTTTLPALVRTPTLMMQPSLDIKPFMSFPVDSSSAVGLFPNFNTMDPVQKAVINHTFGVSIPPKKKQVISCNVCQLRFNSDSQAEAHYKGSKHAKKVKALDATKNKPKMVPSKDSAKANPSCSITPITGNNSDKSEDKGKLKASSSSQPSSSESGSFLLKSGTTPLPPGAATSPSKSTNGAPGTVVESEEEKAKKLLYCSLCKVAVNSLSQLEAHNTGSKHKTMVEARNGAGPIKSYPRPGSRLKMQNGSKGSGLQNKTFHCEICDVHVNSEIQLKQHISSRRHKDRVAGKPLKPKYSPYNKLQRSPSILAAKLAFQKDMMKPLAPAFLSSPLAAAAAVSSALSLPPRPSASLFQAPAIPPALLRPGHGPIRATPASILFAPY* 11BR075 ENSG00000077782.21 ENSG00000147526.20 -/- +/- chr8:38457356 chr8:38772644 CDS/splice-site intron duplication/5'-5' 1 4 0 164 13 high out-of-frame . . . . ENSG00000077782.21 ENSG00000147526.20 ENST00000619564.3 . upstream downstream . ^(AGATGCAGGGGCGCAAACGCCAAAGGAGACCAGGCTGTAGGAAGAGAAGGGCAGAGCGCCGGACAGCTCGGCCCGCTCCCCGTCCTTTGGGGCCGCGGCTGGGGAACTACAAGGCCCAGCAGGCAGCTGCAGGGGGCGGAGGCGGAGGAGGGACCAGCGCGGGTGGGAGTGAGAGAGCGAGCCCTCGCGCCCCGCCGGCGCATAGCGCTCGGAGCGCTCTTGCGGCCACAGGCGCGGCGTCCTCGGCGGCGGGCGGCAGCTAGCGGGAGCCGGGACGCCGGTGCAGCCGCAGCGCGCGGAGGAACCCGGGTGTGCCGGGAGCTGGGCGGCCACGTCCGGACGGGACCGAGACCCCTCGTAGCGCATTGCGGCGACCTCGCCTTCCCCGGCCGCGAGCGCGCCGCTGCTTGAAAAGCCGCGGAACCCAAGGACTTTTCTCCGGTCCGAGCTCGGGGCGCCCCGCAGGGCGCACGGTACCCGTGCTGCAGTCGGGCACGCCGCGGCGCCGGGGCCTCCGCAGGGCGATGGAGCCCGGTCTGCAAGGAAAGTGAGGCGCCGCCGCTGCGTTCTGGAGGAGGGGGGCACAAGGTCTGGAGACCCCGGGTGGCGGACGGGAGCCCTCCCCCCGCCCCGCCTCCGGGGCACCAGCTCCGGCTCCATTGTTCCCGCCCGGGCTGGAGGCGCCGAGCACCGAGCGCCGCCGGGAGTCGAGCGCCGGCCGCGGAGCTCTTGCGACCCCGCCAGGACCCGAACAGAGCCCGGGGGCGGCGGGCCGGAGCCGGGGACGCGGGCACACGCCCGCTCGCACAAGCCACGGCGGACTCTCCCGAGGCGGAACCTCCACGCCGAGCGAG___GGTCAGTTTGAAAAGGAGGATCGAGCTCACTGTGGAGTATCCATGGAGAT)GTGGAGCCTTGTCACCAACCTCTAACTGCAGAACTGGGATGTGGAGCTGGAAGTGCCTCCTCTTCTGGGCTGTGCTGGTCACAGCCACACTCTGCACCGCTAGGCCGTCCCCGACCTTGCCTGAACAAG|GTGCTGCTCCCCATGGATGAAGAGGAAACCAGGATGTGCAGCCAAGACCCGTCCTGACCCCTCATTGGGATCTGCCTCTCTGCAGAACCCACATGTGCCTCCTTCTCTTCACTGCATAACATGCCTTTGTGTGTCTGTACAGAATTTGCCTGACTTGCTCCCCATGGAGGGATATTTAACGGGTTTGCTGTTCCTCATTATAAATGAAACCGTGATGAGCAATCCCATGCATATGCATCTTTTCACACACTTAAATTTCTTTTCAC MWSWKCLLFWAVLVTATLCTARPSPTLPEQ|gaaphg* 11BR075 ENSG00000121644.19 ENSG00000060982.15 +/+ -/- chr1:244653355 chr12:24901885 CDS/splice-site CDS/splice-site translocation 3 1 0 22 22 high in-frame . |Amino-transferase_class_IV(100%) . . ENSG00000121644.19 ENSG00000060982.15 ENST00000302550.16 ENST00000261192.12 downstream downstream duplicates(1),mismatches(1) ^(AGACGCTCCTGTCGGCGGCGCCCGGGAGCGGCTCGGCTGCCCGATGCTTCCGCCCCGGCTGCCGCGGGCC)GGGCTGTACGCTTAGTGCCCGGCTCAGGCCCCCTGAAGCGCCCGCGGGGGTGAGAGCGGCCTCCGGCCCCGCGGAGACGGAGCGGCTTGAGGACGAGGCGGCGGCCGCGGGGAGGAGGATGGGGGCTAACCAGTTAGTGGTGCTCAACGTGTACGACATG|GATTGCAGTAACGGATGCTCCGCAGAGTGTACCGGAGAAGGAGGATCAAAAGAGGTGGTGGGGACTTTTAAG___GCTAAAGACCTAATAGTCACACCAGCTACCATTTTAAAGGAAAAACCAGACCCCAATAATCTGGTTTTTGGAACTGTGTTCACGGATCATATGCTGACGGTGG(AGTGGTCCTCAGAGTTTGGATGGGAGAAACCTCATATCAAGCCTCTTCAGAACCTGTCATTGCACCCTGGCTCATCAGCTTTGCACTATGCAGTGGAA___TTATTTGAAGGATTGAAGGCATTTCGAGGAGTAGATAATAAAATTCGACTGTTTCAGCCAAACCTCAACATGGATAGAATGTATCGCTCTGCTGTGAGGGCAACTCTGCCG___GTATTTGACAAAGAAGAGCTCTTAGAGTGTATTCAACAGCTTGTGAAATTGGATCAAGAATGGGTCCCATATTCAACATCTGCTAGTCTGTATATTCGTCCTACATTCATTGGAACTGAG___CCTTCTCTTGGAGTCAAGAAGCCTACCAAAGCCCTGCTCTTTGTACTCTTGAGCCCAGTGGGACCTTATTTTTCAAGTGGAACCTTTAATCCAGTGTCCCTGTGGGCCAATCCCAAGTATGTAAGAGCCTGGAAAGGTGGAACTGGGGACTGCAAGATGGGAGG___GAATTACGGCTCATCTCTTTTTGCCCAATGTGAAGCAGTAGATAATGGGTGTCAGCAGGTCCTGTGGCTCTATGGAGAGGACCATCAGATCACTGAAGTGGGAACTATGAATCTTTTTCTTTACTGGATAAATGAAGATGGAG___AAGAAGAACTGGCAACTCCTCCACTAGATGGCATCATTCTTCCAGGAGTGACAAGGCGGTGCATTCTGGACCTGGCACATCAGTGG___GGTGAATTTAAGGTGTCAGAGAGATACCTCACCATGGATGACTTGACAACAGCCCTGGAGGGGAACAGAGTGAGAGAGATGTTTGGCTCTGGTACAGCCTGTGTTGTTTGCCCAGTTTCTGATATACTGTACAAAGGCGAG___ACAATACACATTCCAACTATGGAGAATGGTCCTAAGCTGGCAAGCCGCATCTTGAGCAAATTAACTGATATCCAG___TATGGAAGAGAAGAGAGCGACTGGACAATTGTGCTATCCTGAATGGAAAATAGAGGATACAATGGAAAATAGAGGATACCAACTGTATGCTACTGGGACAGACTGTTGCATTTGAATTGTGATAGATTTCTTTGGCTACCTGTGCATAATGTAGTTTGTAGTATCAATGTGTTACAAGAGTGATTGTTTCTTCATGCCAGAGAAAATGAATTGCAATCATCAAATGGTGTTTCATAACTTGGTAGTAGTAACTTACCTTACCTTACCTAGAAAAACATTAATGTAAGCCATATAACATGGGATTTTCCTCAATGATTTTAGTGCCTCCTTTTGTACTTCACTCAGATACTAAATAGTAGTTTATTCTTTAATATAAGTTACATTCTGCTCCTCAAACAAATGCAATTTTTTGTGTGTGTTTGAAAGCTAATTTGAGAAAATTTCATAGGTTACATTTCCTGCAGCCTATCTTTATCCACAGAAAGTGTTTTCTTTTTTTTAAATCAAGACTTTTAAAACTGGATTTCCTCCCATCACTGTTTTTTGAAGGTCCTCCAAGTCCGTGTTAAGGTAAATATCTGTTTTCTTCCTGATGTCACAGCCTGAGCATACTCTGTGCATTAGGAAGACCTGAGTGCATTTCCCACCATTGTCCTTTCCACATTATGTTGTAGCTGGCTGGCTGTCAGGCGACTACAAGACTGAGGGTCTTGTGCCTTATAGATCTTTGTATCCCCCATGGCTGACATATAGTAGGTACTCAGTAAATGGTTTTATAATGAATCAGTGAACATTTTGCTTCTATAGAAGTGTACCTTCTTTGTTTCTATATTATGAAACCTCTTTATTAGAATTTGTGATTGATTCTGACAGTGTATAGATTTACCTTATATTGTCTTTATTTTCCATGAGCTACTAAGTCATTAGAGATACTCTGAAGCATAGTTAGTTTAGGAAATCACTTCATATTGATTGTATTAGAATTATCTTGGAATTGAAGATATATCCCTAGAGCAGGGGACCCCAACCCCCAGGCCATGGGCCACACAGCAGGAAGAGGTGAGTGGTGGGCCATTGAGGAGCTTCATCTGTATTTATGGCTACTTCCCATCACTCGAATTACCACCTGAACTCCACCTCTTGTCAGCTCAGTGGCAGCATTAGATTCTCATAGGAGCACAAATCCTATTGTGAACTCTGCATGCAAGGGATCTAGGCTATGCGCTCCTTATGAGAATCTAATGCTTGATGACCTGAGGTGTAACAGTTTCATCCTGAAACCACCCTTCACCCTGCAGTCTGTGGAAAAATTGTCTTCCACAAAACTGGTCCCTGGTGCCAAAAATGTTGGGGACCACTGCTCTAGAGAGAGGTCATGATATCATACCAACCAAATGGAAATGACAAATGTTTTATGTCAAGTGTTAATTGCAGAAATAAATCTTTTTTTTTTTTTTTTGGTAGAAAACAAAGAGGCATACTCTGATTTTTATACTCTGTTTTTGCAGGTGCTCTTTTCTTTGAATGGAGATTTGATGAGCAAGTGGTTAGGATGCAGGGAGAGCTACTATGGGTGATATTTTCCTTGTTTAGGAGCTGTGAGTTAAAATTGTATCCTTTGTGGTTTATCTAAGGAAAGTCAAATCTTGACAGAAAACATTTTTCCTTGGAAGGTCAACTCTCAGACATTGTATTTTGGTTTCCCTCAGTCCTCATAACTTCCTTCTTGCTGAACATATTTTATTCTCTTTTCAGAGAAGGAAAATAAAAAGGATTCTAAAAGTTTGATGCATTGGAAAAATTTCCTTGAGGCATTTAGCAACACATAGAAAATGGGCTTTGATTCTTTTCCAAAACTTTTAGCCATAGGGTCTTTTATAGACAGGGATAGTAAAATGAAAATTGAGAAATATAAGATGAAAAGGAATGATAAAAATATCTTTTAGGGGGCTTTTAATTGGTGATCTGAAATCTTGGGAGAAGCTGTTCTTTTCAGGCCTGAGGTGCTCTTGACTGTCGCCTGCGCACTGTGTACCCCGAGCAACATTCTAAGGGTGTGCTTTCGCCTTGGCTAACTCCTTTGACCTCATTCTTCATATAGTAGTCTAGGAAAAAGTTGCAGGTAATTTAAACTGTCTAGTGGTACATAGTAACTAAATTTCTATTCCTATGAGAAATGAGAATTATTTATTTGCCATCAACACATTTTATACTTTGCATCTCCAAATTTATTGTGGCGAGACTTGTCCATTGTGAAAGTTAGAGAACATTATGTTTGTATCATTTCTTTCATAAAACCTCAAGAGCATTTTTAAGCCCTTTTCATCAGACCCAGTGAAAACTAAGGATAGATGTTTAAAAACTGGAGGTCTCCTGATAAGGAGAACACAATCCACCATTGTCATTTAAGTAATAAGACAGGAAATTGACCTTGACGCTTTCTTGTTAAATAGATTTAACAGGAACATCTGCACATCTTTTTTCCTTGTGCACTATTTGTTTAATTGCAGTGGATTAATACAGCAAGAGTGCCACATTATAACTAGGCAATTATCCATTCTTCAAGACTTAGTTATTGTCACACTAATTGATCGTTTAAGGCATAAGATGGTCTAGCATTAGGAACATGTGAAGCTAATCTGCTCAAAAAGATCAACAAATTAATATTGTTGCTGATATTTGCATAATTGGCTGCAATTATTTAATGTTTAATTGGGTTGATCAAATGAGATTCAGCAATTCACAAGTGCATTAATATAAACAGAACTGGTGGCACTTAAAATGATAATGATTAACTTATATTGCATGTTCTCTTCCTTTCACTTTTTTCAGTTTCTACATTTCAGACCGAGCTTGTCAGCTTTTTTGAAAACACATCAGTAGAAACCAAGATTTTAAAATGAAGTGTCAAGACAAAGGCAAAACCTGAGCAGTTCCTAAAAAGATTTGCTGTTAGAAATTTTCTTTGTGGCAGTCATTTATTAAGGATTCAACTCGTGATACACCAAAAGAAGAGTTGACTTCAGAGATGTGTTCCATGCTCTCTAGCACAGGAATGAATAAATTTATAACACCTGCTTTAGCCTTTGTTTTCAAAAGCACAAAGGAAAAGTGAAAGGGAAAGAGAAACAAGTGACTGAGAAGTCTTGTTAAGGAATCAGGTTTTTTCTACCTGGTAAACATTCTCTATTCTTTTCTCAAAAGATTGCTGTAAGAAAAAATGTAAGACAAAAAAAAAAAAAAAAAACAAACAGAGGCAGAGGCAGGCAGTAGCAAGAAAGCAGAGCGTAACATCAGCTAGATGGTAACATGCAATGTCAGCTCTCTTGAAGACATGGGAAACCTAAGTTACACCTTGGGTTAAAATTCTTCACCATATTAGTTTTGTTGCTTCATAAAATTTACCTAAGCAAGTGGTCTTGCTTGCCTCAAATCCAAGCAGTCTTGAACACTTGGAGGCAATTAATGAGTATATCTTAGTCAAAAGAATTGTTGGAGCTTTTTATTAAAGCTACAGTTTCAGTTCTGCTTTTGGGGAATTGTGCTATGAAAGCAGCTGCCAAAATAAGCTCATTTATTTTCTTCAATCCCACTCAGTGCTCAGTCACTATATTCTGTTTCCTTTTTTTTTTTCAAGTTGCATATTTGGTTTCCCCTTATGATTGGGAAAGATGAATTTTCAGCAGAAAACATTGTTTGTTCACTTTCAAAGAGTGATAGTTTCTAAAACATTTAGAGCAATAAATATTCATCAGAGGTACCAAGTAAGCCGGCAGAAGAGTTAAGGGTTAGAGAAATCCCTTATTTCATGTCTTGACTCTAAAATTATCAAAGTACTTTTCCTTGTAATGTGGATTTCTTCTTATGCGGATATGCAAAAACTTCAGTTATACGTAGTAATGCTAGCAGGTAATTTTAGTAGACATTTTATAACAACTGTCACTTTGTTTCGCCACATGTAGAGTTTGTTCAGCTATTTTCCAGATATCTCCCCACAAAAGGAGGCAAAGGGTACCAGCTTTTCAATGAGCATTACCTATTACTTGGCAAAGATGATGAAGACTCTATTAATAGTTCATTTGATAAATGTTGACATAACCAACAATAGAGATTAGGAAGTTAGTTTTAAGAAATCAATGGCATATAGACATTACCCTCATGGAGTTTGTATTCTACTACTTGAACTGATTGTAGCTATAAAAGCATAGTTAGATAGCTGAATAGTTAGATCATAAGCAAAGAAGGCCAGAACACATCTCTTATCAAGAAATCAATGAATAGTTTATCTCATTTTTAAAGCAACTTTATCCTTCTTTAATTCCTTCCTTTCTTCTAGTGCAAAACTACTTAATAAGGTTGGTGTTTAGGTTAGTGTTCACACCATTCCTCATCTGGTGTGAATTACCTTCTCTTTCTTTACTATTTACTACCAACCTAGTACATGTGTTGACTGAATTCTTTTCAAACAATGTTGAGTTATCATGGTGCACCTAATAAATTAACACCACAGATTACAGCATCCTTGCTGATTTTCTCAGCAAAGCCAGATTAGATGGAAATAAACAAAGAAAATGATCCTAGAGTGAATTTTTCTAGAAAATATCTATTATGAACCATGCTGTTTAAAGTATTAGCTTGAAGGTGATGGATCCAGCTATTCAGAAAATAACTTTCATATAACCATGATTTTGCACAGTATGAGGTCTTAAATGTGTGGAAAGAGATAAATTTTTTATCATTACCACAAACCCCTTTTAAAGATTCAAAGGTGGAAGAAAGTGATTTATTTTTTCTCTTCAGCATACATATATAAAAGACTTGTCAGATGTTTAATTTGGGGAGGTTGATAATGAAACATATCAACAGAGTATAGTAGTTATAGTAGTGTTTGTGGGTAAATAATTTCCTGGGGTCAGACATATATAAACATATTTGCTTCAAAATGATAAAGGCATGAAATCAGTCTTAAAAATTGAAATGGGGGTGATGGGGGAGAAAAAGAAGAACAAATTTGAAGTGCCCTTTCAAATCTGCTGGATACAAGTATTGAAGTTTTAAGTCATCTTATTCTGTCTGAAAGTGTATTTTTCATTCTACAATAGACCCAATCAACAAGACGTATAACTTGAGTTGCATGATGTTCAGTTTATGTAATCTACTGTTGGGATGGTAAGAATTGATGTAGGCTGTGGTGTAAGAATGAATTAAAATATAGTTTCACTGGCTTTTCTCTACATATCCACTATCACAATGGCTAGGTTTCCTGTTGCTCACTATTGGATTCTGGAGAAAAATTTAATGAAAGATGATATCAGAGGAAGAATAAGTGGAGGTAGAGAAGAAAGGAATGATAGAGGAGGGGAAAAAAACAAAACATATTTTTGTGTTATCCAAAGGAGCTTTTTCCTTATTCTGTCAAGCATTGAGATCTTCTTCAGCTTTCAATGTAGTTGCTAAATACAAATAATGCTACTAGGTAGTGACTAAATATAGCAAACACTTCATCAGATATTAGAATTAGGTCACACTATTGAGGTTATAATCTGAAGGTTGTGTTACATAGAAACCACTTTAGATTATTATCAACTTGGACTAGGCTTTATTTTATAATAGCATAGTAAGTAATATCTATTGTGTCATTTCTTCAACCATTTTATTCTAAGATCCATGAAGCTTCTTGAGGCCAAATAAAATAATAAGTTTAGACAAGAAGTAGATTGTGACTTTTTTCCCTTAGAGATACTATTTACTATCTCCTATCCTGATAGGTGGAAGGTTTACTGAATTGGAAATTGGTTGACTATTAGTTTTTAACTAAAATGTGCAATAACACATTGCAGTTTCCTCAAACTAGTTTCCTATGATCATTAAACTCATTCTCAGGGTTAAGAAAGGAATGTAAATTTCTGCCTCAATTTGTACTTCATCAATAAGTTTTTGAAGAGTGCAGATTTTTAGTCAGGTCTTAAAAATAAACTCACAAATCTGGATGCATTTCTAAATTCTGCAAATGTTTCCTGGGGTGACTTAACAAGGAATAATCCCACAATATACCTAGCTACCTAATACATGGAGCTGGGGCTCAACCCACTGTTTTTAAGGATTTGCGCTTACTTGTGGCTGAGGAAAAATAAGTAGTTCGAGGAAGTAGTTTTTAAATGTGAGCTTATAGATAGAAACAGAATATCAACTTAATTATGAAATTGTTAGAACCTGTTCTCTTGTATCTGAATCTGATTGCAATTACTATTGTACTGATAGACTCCAGCCATTGCAAGTCTCAGATATCTTAGCTGTGTAGTGATTCTTGAAATTCTTTTTAAGAAAAATTGAGTAGAAAGAAATAAACCCTTTGTAAATGAGGCTTGGCTTTTGTGAAAGATCATCCGCAGGCTATGTTAAAAGGATTTTAGCTCACTAAAAGTGTAATAATGGAAATGTGGAAAATATCGTAGGTAAAGGAAACTACCTCATGCTCTGAAGGTTTTGTAGAAGCACAATTAAACATCTAAAATGGCTTTGTTACACCAGAGCCATCTGGTGTGAAGAACTCTATATTTGTATGTTGAGAGGGCATGGAATAATTGTATTTTGCTGGCAATAGACACATTCTTTATTATTTGCAGATTCCTCATCAAATCTGTAATTATGCACAGTTTCTGTTATCAATAAAACAAAAGAATCCTGTTTGTGTGGTTTCATGAAATCAGCATTGTTGAATGCATGAAGTAATAATGCTAAATTAACATTTTTATGATGTCTCAAGGTTTCTGGTCAAGGGAAGTAAATGTAGGATAGTATTTTTACACCAAAATGACACAGAGAGAATTGAGCACACCAGAAAGACCAGAAACCACACCACTGGATAGAGATTCAATATGTTTCTTTTTCAAACATTTGGACAAGAAAAAAATGGGCATTTAAAAATTCTTCCTTCCCCTGGTTATGGATTTATCTGTAGTAAAACTTAGCTTTGTCGTTTGAGATTTGCACAGAATGGGGGGAGTAGATTACCTCTTCCCATTCATTGTCATAATGGATCTACATCACTGATAAACACCATACTTCTATATGTGGTTAACTAGCTTTAGAATAAAAGACACTTTAAAAAGTAAAAGGCCTAGAGATCTTCAATGAAGTGTCCCTTTTAGCCAAACCAGGCCTTGCAGAAATTGTCCTCAAAAGCACCAAGGGAGAACAAAGCCAAGTGCAGAATTACCCAAGGGTCACACATTTTGTATTCATTTTCTTATAATTTGCCCAAATGATTTGAAGTACAGCAAAACCTGAAGTTTTGCAAAGAGTTACTGTAAACTGAACTTAAAAATGTCAGAGTGCTCGGTGACCCACTTCTCCAGACCCTGTCAACCTGTGAAAATATTGGCCTTTATTCAGATCTCTCAAGAAGTTACGCGCAGAGTTTGGAAGGTCTAGGCAAAGGTTATTAGTCAAGTGTTCTTACAGTGTCAACGCTCAATTCCCACAAGCGTGAGAAAGAGAGACCTGTCATTCCTGAGGGTGATGACATACATTTACTGGAGCTTATATAATTTATCAGATAAGACAGCAGTTTCCTTCAGGGTAGAAAGTGTGTTTTCTACATTGATTTAGTACAAAACAAAAAGAAAAGGGGATATTTCAAATTTTATAATTATTTTTCTGCTAAGCTGATTCAGTGTGATTTAAGCATATTTTTCAAATCATGAATCTGATTCCATATACATATGTGCCTTATATTGTGATAATTTATTTTTAAGTGAAATATGCTATCATAGCCTGACTTTATGTATAGTGGTGACAACTTGCAGGATCGCATTTCTGTAACCAAACGGCCGACAGCTGAGGTGTAGATGCTTCCTATGGTCTGTAGAATAATCACTGGGCTTGTTCTCTAGCTATGTCTGTATGCAATCGCGACAGTGTTGATCAAAACCCATGATCATTCTCTCCAAAGGTCTTTGTCACTAAGCCACTAGGGATTCTGAAAAGTTCGTGAGCTGAAACAAATAAATTGAGTTGGAAGATT)$ MGANQLVVLNVYDM|DCSNGCSAECTGEGGSKEVVGTFKAKDLIVTPATILKEKPDPNNLVFGTVFTDHMLTVEWSSEFGWEKPHIKPLQNLSLHPGSSALHYAVELFEGLKAFRGVDNKIRLFQPNLNMDRMYRSAVRATLPVFDKEELLECIQQLVKLDQEWVPYSTSASLYIRPTFIGTEPSLGVKKPTKALLFVLLSPVGPYFSSGTFNPVSLWANPKYVRAWKGGTGDCKMGGNYGSSLFAQCEAVDNGCQQVLWLYGEDHQITEVGTMNLFLYWINEDGEEELATPPLDGIILPGVTRRCILDLAHQWGEFKVSERYLTMDDLTTALEGNRVREMFGSGTACVVCPVSDILYKGETIHIPTMENGPKLASRILSKLTDIQYGREESDWTIVLS* 11BR075 ENSG00000115970.18 ENSG00000138095.19 -/- -/- chr2:43485234 chr2:43982434 CDS/splice-site CDS/splice-site duplication 3 1 0 40 88 high in-frame . Putative_death-receptor_fusion_protein_(DUF2428)(100%)|PPR_repeat(100%),Pentacotripeptide-repeat_region_of_PRORP(100%),Pentatricopeptide_repeat_domain(100%) . . ENSG00000115970.18 ENSG00000138095.19 ENST00000405975.6 ENST00000260665.12 upstream downstream duplicates(1) ^(GACCCGGTAGTCGACCGTGGACCGCGCTGCGAGCCTCGGAGACGCCGTAGAAGGAGACCTGCTTCCGGGACTGGACCAGGCGCCTGCGACTCTTCTCAGACGCCGACGTGCACGAG___TGACTACTATTAATTCTATTTAAAATGGGTGTAAAGAAGAAGAAAGAAATGCAAGTTGCTGCGCTGACCATTTGCCATCAGGACCTTGAAACTTTGAAAT___CTTTTGCTGATGTGGAAGGGAAAAATCTAGCTTCTTTGCTGTTACATTGTGTGCAACTCACGGATGGAGTGTCACAAATCCATTATATTAAACAG___ATTGTGCCTCTGCTGGAGAAAGCAGATAAAAATGGCATGTGTGATCCCACTATTCAAAGTTGTTTGGATATCTTAGCAGGCATTTATCTTTCTTTGAGTCTAAAGAATCCCTTGAAGAAAGTATTGGCAAG___CTCACTAAATAGCCTGCCTGATTTTTTTCTACCTGAGGCTATGCACCGTTTTACTTCTCGTCTTCAGGAAGAATTGAATACTACTGACTTATACTCTTACAGGAAAGTTACTGACAATATTTCTTCCTGTATGGAGAACTTTAACTTGG___GTAGAGCAAGTGTTAATAATCTGCTTAAAAATG___TGCTTCATTTTCTGCAGAAGAGTTTAATTGAAATCCTGGAAGAAAATAG___AAAATGTGCTGGAAATCATATTATTCAAACACAGTTGATGAATGACTTACTGGTAGGCATTAGAGTTTCAATGATGTTAGTACAGAAAGTACAAGATTTCCAGGGAAATCTTTGGAAGACTTCCGATTCTCCCATATGGCAAAATATGTGTGGATTGCTGAGTATTTTTACCAAGGTTTTAAGCGATG___ATGATCTGTTACAGACTGTACAGAGCACATCTGGATTAGCTATTATTCTTTTTATTAAGACTATGTTTCACCCGTCTGAAAAGATTCCTCATTTG___ATTAGCAGTGTGCTGCTTCGTTCAGTGGACTGCACCAGTGTCCCCGAGTGGTTTATGAGCAGCTGCAGGAGCCTCTGTTGTGGTGACATCTCTCAGTCAGCTGTCTTATTCCTCTGTCAGGGGACACTTGCCATGTTGGACTGGCAGAACGGAAGCATGGGTCGGAGTGGGGAGGCCCTGCTCTTGGATACTGCACATGTTTTGTTCACCTTGAGTTCACA___GATTAAAGAGCCAACGCTGGAAATGTTTCTGTCTAGAATCTTAGCATCCTGGACTAATTCAGCCATACAAGTCCTTGAATCAAGTTCCCCGAGCCTAACGGACAGCCTGAATGGGAATTCAAGTATAGTTGGGAGACTTTTGGAATATGTCTATACCCATTGGGAACATCCATTGGATGCTCTGAGACACCAAACCAAAATCATGTTCAAAAACCTTCTCCAAATGCACCGGCTCACTGTGGAAGGTGCAGATTTCGTCCCTGATCCTTTCTTTGTGGAATTGACTGAGAGTCTTTTACGATTGGAATGGCATATTAAAGGAAAGTACACGTGCCTTGGTTGTTTGGTAGAGTGCATAGGAGTTGAACATATTTTGGCTATAGATAAAACTATTCCATCTCAAATCTTAGAGGTGATGGGAGACCAGTCATTGGTACCTTATGCAAGTGACCTCTTGGAAACCATGTTTAGAAATCATAAGAGTCATTTGAAATCCCAGACTGCTGAGAGTTCTTGGATTGACCAGTGGCATGAGACTTGGGTTTCTCCTCTCCTTTTTATATTGTGTGAAGGAAACTTGGATCAAAAATCTTACGTGATTGATTATTACTTGCCAAAATTATTAAGTTACAGCCCTGAAAGCTTACAGTACATGGTAAAGATTCTTCAGACTTCTATTGATGCTAAAACTG___GACAAGAGCAATCTTTCCCATCCTTAGGGTCTTGTAATAGCAGGGGGGCTCTGGGAGCTTTGATGGCATGTCTGCGAATAGCTAGAGCTCATGGACATCTTCAGTCTGCAACTGATACCTGGGAGAACCTCGTGTCTGATGCAAGAATAAAGCAAGGCTTAATTCATCAGCATTGCCAA___GTAAGGATAGATACATTAGGCTTGCTTTGTGAAAGTAATCGGAGCACAGAAATTGTTTCCATGGAAGAAATGCAGTGGATTCAGTTCTTTATTACATACAATCTTAACAGCCAGTCTCCAGGAGTGCGGCAACAGATCTGTTCTCTTCTTAAAAAG___TTGTTTTGTAGGATACAGGAAAGTTCTCAGGTACTTTATAAATTGGAGCAGAGTAAATCCAAACGTGAACCAGAGAATGAGTTAACCAAACAGCACCCTTCTGTTTCTTTACAGCAGTATAAG___AATTTCATGTCATCCATTTGTAACAGTCTTTTTGAAGCATTGTTTCCTGGATCTTCCTACTCGACTAGATTTTCAGCTTTAACCATTTTAGGTTCAATAGCTGAAGTTTTTCATGTCCCAGAAG___GCAGAATTTATACAGTATATCAGCTGAGTCATGATATTGATGTTGGTCGTTTCCAAACACTAATGGAATGTTTTACCAGCACTTTTGAAGACGTGAAAATTTTAGCATTTGATCTTCTGATGAAGTTATCAAAAACAGCTGTACATTTTCAG___GATTCGGGGAAACTGCAAGGCTTATTTCAGGCAGCATTGGAGCTCAGCACAAGCACCAAACCATACGACTGTGTGACAGCTTCCTACCTGCTGAACTTCTTAATCTGGCAGGATGCTCTACCGTCATCCTTGTCTGCCTACTTAACTCAGCAAGTTGCATGTGATAATGGAGATAGGCCTGCTGCTGTGGTGGAAAGGAACACATTAATGG___TTATCAAATGCTTGATGGAAAATCTTGAGGAAGAAGTATCTCAGGCTGAAAATTCTCTGCTTCAGGCAGCAGCAGCATTTCCAATGTATGGGCGAGTCCACTGTATAACAGGAGCTTTGCAGAAGTTATCTCTAAA___CAGCCTGCAGTTGGTGAGCGAGTGGAGACCTGTGGTAGAGAAGCTCCTTTTGATGTCCTACAGGCTTTCCACTGTGGTGTCTCCAGTCATTCAGAGCTCATCCCCTGAAGGCCTCATCCCAATGGACACTGATTCAG___AGTCAGCAAGCCGCTTACAGATGATTCTGAATGAGATTCAGCCTCGAGATACTAATGATTATTTTAACCAAGCCAAAATATTGAAAGAACATGATAGCTTTGATATGAAGGACTTGAATGCTAGTGTGGTGAATATTGATACTTCTACAGAAATCAAAG___GTAAAGAAGTAAAAACATGTGATGTAACTGCGCAGATGGTGCTGGTATGTTGTTGGAGAAGTATGAAGGAAGTTGCTTTACTTTTAGGCATGTTGTGCCAGCTTCTGCCCATGCAGCCTGTGCCAGAATCTTCTGATGGATTATTGACGGTGGAGCAG___GTAAAAGAAATAGGAGATTACTTTAAACAACACCTTTTGCAGTCCAGGCACAGAGGAGCATTTGAATTGGCTTATACTGGTTTTGTGAAACTCACTGAAGTACTAAACAG___GTGCCCAAATGTGAGTCTGCAAAAGCTGCCAGAACAGTGGCTATGGAGTGTTTTAGAGGAAATTAAATGCAGTGATCCTTCATCTAAACTCTGTGCTACAAGGCGCAGTGCTGGAATTCCTTTCTACATACAG___GCACTGTTGGCATCTGAACCAAAGAAAGGCAGAATGGATTTGTTGAAAATAACAATGAAAGAGTTAATCTCTTTGGCTGGGCCTACAGATGACATACAGAGTACAGTCCCCCAG___GTTCATGCTTTAAATATCCTTAGAGCATTG)TTCAGAGATACGCGCCTGGGAGAAAATATTATTCCTTATGTTGCTGATGGAGCTAAGGCTGCAATTCTGGGTTTTACATCACCGGTCTGGGCA___GTGCGAAATTCATCCACACTTCTCTTTAGTGCCTTGATCACAAGAATTTTTGGAGTTAAAAGGGCAAAGGATGAACATTCCAAAACAAATAG|AGGACTACTGAGCCCAGCCAGGCTGTATGCCATTGCTGCCAAAGAAAAAGATATTCAAGAGGAGTCCACTTTTTCTTCTAGGAAGATTTCCAATCAaTTTGATTGGGCTCTAATGAGACTAGATCTTTCTGTTCGAAGAACTGGCCGCATTCCAAAGAAGCTTCTACAAAAAGTTTTTAATGATACCTGCC(GCTCAG___GTGGCCTAGGTGGTAGTCATGCCTTGCTTCTACTACGTAGTTGTGGTTCTCTCTTGCCTGAACTAAAGCTTGAAGAGAGAACAGAATTTGCTCATAGGATATGGGACACACTTCAGAAATTAG___GTGCTGTGTATGATGTGAGTCACTATAATGCTTTACTTAAAGTCTATCTTCAAAATGAATATAAATTCTCACCAACTGATTTCCTGGCAAAAATGGAGGAAGCAAACATTCAACCAAATCGA___GTGACATACCAGAGATTGATTGCTTCTTATTGTAATGTAGGAGATATTGAAGGTGCCAG___CAAGATTCTTGGATTTATGAAAACTAAGGATCTCCCAGTTACAGAGGCAGTATTCAGTGCCCTTGTGACAGGGCATGCCAGAGCTGG___TGATATGGAGAATGCAGAAAACATTCTCACAGTGATGAGAGATGCCGGAATTGAGCCTGGTCCAGACACATACCTCGCATTATTGAATGCATATGCTGAGAAGGGCGACATTGACCATGTTAAGCAG___ACTCTGGAGAAGGTGGAGAAGTCCGAGCTTCACCTTATGGACCGTGATTTACTGCAAATTATTTTTAGCTTCAGTAAAGCTGGGTATCCTCAGTATGTCTCAGAAATTTTGGAAAAAGTTACATGTGAAAGAAGATATATTCCAG___ATGCAATGAACCTCATTTTACTTTTAGTCACTGAAAAATTGGAAGATGTAGCGTTGCAAATTTTACTAGCATGCCCCGTATCAAAGGAAGATGGCCCAAGTGTCTTTGGCAGTTTCTTTTTACAACACTGTGTGACTATGAATACG___CCTGTGGAGAAGCTAACAGACTACTGTAAGAAGTTAAAGGAAGTCCAGATGCACTCCTTTCCTCTGCAGTTCACCCTCCATTGTGCTTTACTCGCCAATAAAACTG___ATTTGGCAAAAGCCTTAATGAAGGCTGTGAAGGAGGAAGGTTTTCCTATCAGACCTCACTATTTCTGGCCATTGCTAGTTGGACGTCGGAAGGAAAAAAATGTTCAAG___GTATAATTGAAATCCTCAAAGGAATGCAAGAATTGGGAGTACATCCTGATCAGGAAACATATACAGATTATGTGATTCCATGCTTTGATAGTGTAAACTCAGCACGAGCCATTTTGCAG___GAAAATGGATGTCTGTCTGATAGTGATATGTTTTCTCAAGCTGGATTGAGAAGTGAAGCAGCAAATGGGAACTTAGACTTTGTATTATCATTTT___TGAAATCAAATACATTGCCCATCTCGCTGCAGTCTATAAGAAGTAGCCTACTGCTAGGCTTCAGGAG___GTCTATGAATATAAATCTTTGGAGCGAG___ATAACAGAATTGTTGTACAAGGATGGACGTTATTGCCAGGAGCCTCGAGGACCGACGG___AAGCTGTTGGCTATTTTCTTTATAACTTGATTGACAGCATGAGTGACTCAGAGGTACAGGCCAAGGAGGAGCATTTGAGACAATACTTCCATCAGCTGGAGAAGATG___AATGTAAAAATTCCTGAAAATATCTACAGAGGCATTCGTAATCTCCTGGAAAGCTACCATGTTCCTGAATTGATTAAG___GATGCTCACTTGTTGGTTGAGAGTAAGAATTTAGACTTTCAAAAA___ACTGTGCAACTTACATCATCTGAATTGGAGTCCACACTTGAAACACTAAAAGCTGAAAATCAACCTATAAGAGATGTCCTAAAGCAACTCATATTAGTGCTTTGTTCAGAAGAG___AATATGCAAAAAGCCCTTGAATTGAAAGCAAAATATGAATCCGACATGGTTACTGGTGGCTATGCAGCTTTAATAAATTTATGCTGTCGACATGATAAAGTAGAAGATGCCTTGAACTTGAAAGAAGAATT___TGACCGCTTAGATTCATCTGCTGTCCTTGACACCGGCAAGTATGTAGGCCTTGTAAGAGTATTGGCAAAGCATGGCAAGCTCCAAG___ATGCTATTAACATTCTGAAGGAGATGAAAGAGAAGGATGTTCTTATCAAAGATACAACAGCCTTGTCCTTTTTCCACATGCTAAATGGCGCAGCTTTAAGAGGTGAAATTGAAACAGTAAAACAGTTGCATGAAGCCATCGTGACTCTAGGGTTAGCAGAACCATCCACCAACATAAGTTTCCCATTGGTCACTGTACACTTGGAAAA___GGGCGACCTATCTACTGCTCTTGAGGTCGCCATTGACTGCTATGAAAAGTATAAAGTATTACCAAGGATTCATGATGTCTTGTGTAAACTGGTAGAGAAAGGCGAGACTGATCTAATTCAGAAAG___CAATGGACTTTGTGAGCCAAGAACAAGGTGAAATGGTGATGCTCTATGATCTCTTCTTTGCCTTCCTACAAACAGGAAATTACAAAGAGGCCAAGAAGATCATTGAG___ACTCCAGGGATTAGAGCTCGATCTGCAAGGCTTCAGTGGTTTTGTGACAGATGTGTTGCAAATAATCAG___GTTGAAACTCTGGAAAAATTAGTGGAGCTGACACAGAAGCTATTTGAATGTGATAGAGACCAGATGTACTACAATCTGCTAAAACTGTATA___AAATAAACGGTGACTGGCAAAGAGCTGATGCAGTCTGGAATAAAATCCAAGAAGAAAATGTTATTCCTCGTGAAAAGACATTAAGATTATTAGCAGAAATCCTTAGAGAGGGTAACCAGGAAGTTCCGTTTGACGTACCTGAG___TTGTGGTATGAAGATGAAAAACATTCCCTGAATTCTTCGTCAGCCTCAACCACAGAACCTGATTTCCAGAAAGATATATTGATTGCCTGCCGATTGAACCAAAAAAAAG___GGGCATATGATATTTTCCTGAATGCAAAAGAGCAAAACATTGTGTTTAATGCTGAAACCTACAGCAATCTCATTAAATTACTGATGTCAGAAGATTATTTTACACAAGCAATGGAAGTGAAAGCATT___CGCGGAGACCCACATCAAGGGCTTCACACTGAACGATGCTGCCAACAGCCGCCTCATCATAACGCAAGTTAGGCGGGATTATTTGAAAG___AGGCTGTGACAACACTGAAAACAGTATTGGATCAGCAGCAGACCCCTTCTAGGTTAGCAGTGACCCGTGTCATCCAGGCATTGGCCATGAAGGGTGATGTTGAAAACATAGAAGTAGTTCAGAAGATGTTAAATGGACTCGAAGACTCCATTGGACTTTCAAAAATGGTTTTCATCAATAACATTGCTTTGGCTCAAATAAAGAA___TAATAACATAGATGCCGCAATAGAAAACATTGAAAATATGCTTACTTCAGAGAATAAAGTCATTGAACCCCAATACTTCGGCTTGGCATACTTATTCAGAAAAGTAATAGAGGAGCAGTTGGAACCAGCAGTTGAAAAGA___TAAGCATCATGGCGGAGAGATTGGCCAATCAGTTTGCAATTTATAAACCTGTCACTGATTTTTTCCTTCAACTTGTGGATGCAGGCAAGGTGGATGATGCCAGAGCTCTCCTACAG___AGATGTGGTGCAATTGCTGAACAAACCCCGATTTTGTTGTTGTTCCTCCTTAGGAATTCTAGGAAACAAGGAAAG___GCATCAACTGTGAAATCTGTGTTAGAATTGATTCCTGAATTAAATGAAAAGGAAGAAGCATACAATTCCCTCATGAAAAGCTATG___TCTCAGAGAAAGATGTCACATCTGCTAAAGCACTGTATGAACATTTGACTGCAAAGAATACAAAATTGGATGATCTGTTTCTAAAGCGTTACGCATCTTTGCTGAAGTATGCTGGAGAGCCTGTCCCTTTCATTGAACCCCCT___GAAAGCTTTGAATTTTATGCACAGCAGCTAAGAAAATTGAGGGAAAACTCTTCTTGAAATAACCAGGCGATACTTTGTTTTGTATATATTTGTGATTCTGTGTCTACATGTTATTTTGAAGTATATCTGAGGGAAAAATAAATGAAAATTTTCTTTATGTACTTATGTATGTGTGATGCATGTTCAAAGTCTTATTGACCATAACTCTGTGCACTTGGTTATTGGACATTTTTGGAGTTTTTTTCTCTGGGAAAAATCGATAGTGTTTTCTTCAATGCTGCTGCTGTGTGAAGCCATACTTTTTCAGGATTCTTCCCCTAATTGGCTCTTTGGTTTCCCTGCTCTGTTTCATTTATTTCATTAAAATGTTATTCCTTTATTTAAGATTCACTTATTAGTCTGCTGTTTCTCTGAAAAATTTTAGAGCTAGGTATAGTGACCGTGAACTTTCTAACGCATAATATTCTGTGATACAGCCATTCCGTACATGTGTGAAGTCCTGCATAACTTTCGAACTTTGTTAAATGTTGGCACTAGGAGTCATCAGATCTAGGCTTCATCATTTTCCAGTGAGAAGCAGAGACCCAAAGGGCCTGTTACTTGTGCTTGGTCAGGGGACTGTCTGTCATGCCTGGAGGCTCTTCGGCACACTTCCCCATCTTTCCCTTCTGCCACTGTGGCTTCAAGCACCTCTGTTCATAGAGCGTCTCTGAAATTGAGTCTCGGTCATGACTTATCCCGAAGTAGAGCAATGTGTTTCCTCTCATTGTAGTTTCAGGACTTTGTCAGTACAAGCTCTGCCCTAGGCTTGTTACTTTATACTCATATCCTGAAAAGATGTGATTTCATCTATGAAGGGGTAAAATATTGGTTTGTATTTAATTGTTTGAAATAAAAGTGATCCCTATATTGAATCTCATGCCTGTTAATATCTACACTGTAAGTAGTGACTTCAAAAAAATTCTAAGATAGGTAGTCAGGAGAGTTTGCCATTATAAAAGGTGTCTTAATAATATGGAATATTGACCTAACTGGAGATGAGGTAATTAATTACCGAAATGTTGAAAATGTTTTGAGAACTCTCCCCATTTTGGGGTATTCCTTGTTCATTTGAATTTGGTGACTCCCTACTGTTCCAGTTTCAGTGCCAACTTGGGTCACACTGTTCACATCAGGGGAGACCTTGCCTTGGGGACGTAGGCGGGCCTCTTGCAACTTGTGCTGTTGACCTTCTGTCTTGTGGAACTCTCTCTCCTGCATCTGCTACCTGCCCGCAGATGGTGTGAGGGAGGGTTGATGGCGGGAAGCCAGGAAGTAGATGTCATCATGGTATTGGCCAGGCTTTTACTTCAACTCTTTTTGTGGCGTTAGATTTAAGGAAGCAGGGGGCATGGCCAACGTTGAGTCTTGGCCCAGTGGACATAGTGCGGCTTTCCCTTGAGCACTGCCCAGATGCAGGACCTGCACATGTTACAGGTTTGCCAAAAGCATCTTTTTTTTTTTTTTTTTTTTTGAGATAGTCTTGCTCTGTTGCTTAAGCCAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCACGTAGCTGAGATTACAGGCTTGCACCACCATGTTCAGCTAATTTTTGTATGGTAAAGACGGAGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCCCAAGTGATCCTCCCCCTGCGCTCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCAAGAGCCTCACTCCTGTCTTTAGTGATTGCACTGAAGCAGGCCTCATTTTTTTGCAGTCATGCTAACCACAAGTTAGTCAACATTCACTAATTGACATTCATTAGAATAGGTCTCCAAGGTGAGGCATAACGTTGGGGTGTAATCTGGATTTCGCAGTCATCTTTTTGGGGAAACTGAAAGTACCATCTCATTTGCATGAAGTGACTCCACACTGGCCCTGTATATGGACTCTGGTAAAATGTGAGTGTGGTACAGAGGAAATAGGTAAGACCCCCTTATCTAGCCCTCTCGGCAGCAGCGGGGGGGTGTTACAAAGGACTAGCTGTTCAAATATCTTTTGTATTGTATTGATTCCCCTATTGAATATAAATATTTAAAGTATAATAACTATACTGTAGGTGGGCTTATGAGTGTTCTAAATATCTAATAGCTAAATTGAAATAAGTAGAAATATAAACAATTTAGCAGCTTTCTGTAATACATTTACACTCAAATTATAAGCAGCTAATTCTAAAAAAGATGTCACTGTAAACTATTGAGAACTATAGTATTTTATATATAATTATATGTTCATGTATTTGAACCCAAAATAATTTTAACTGAAATGCTTTGAATAAAGTATACTGTAAATATC)$ MGVKKKKEMQVAALTICHQDLETLKSFADVEGKNLASLLLHCVQLTDGVSQIHYIKQIVPLLEKADKNGMCDPTIQSCLDILAGIYLSLSLKNPLKKVLASSLNSLPDFFLPEAMHRFTSRLQEELNTTDLYSYRKVTDNISSCMENFNLGRASVNNLLKNVLHFLQKSLIEILEENRKCAGNHIIQTQLMNDLLVGIRVSMMLVQKVQDFQGNLWKTSDSPIWQNMCGLLSIFTKVLSDDDLLQTVQSTSGLAIILFIKTMFHPSEKIPHLISSVLLRSVDCTSVPEWFMSSCRSLCCGDISQSAVLFLCQGTLAMLDWQNGSMGRSGEALLLDTAHVLFTLSSQIKEPTLEMFLSRILASWTNSAIQVLESSSPSLTDSLNGNSSIVGRLLEYVYTHWEHPLDALRHQTKIMFKNLLQMHRLTVEGADFVPDPFFVELTESLLRLEWHIKGKYTCLGCLVECIGVEHILAIDKTIPSQILEVMGDQSLVPYASDLLETMFRNHKSHLKSQTAESSWIDQWHETWVSPLLFILCEGNLDQKSYVIDYYLPKLLSYSPESLQYMVKILQTSIDAKTGQEQSFPSLGSCNSRGALGALMACLRIARAHGHLQSATDTWENLVSDARIKQGLIHQHCQVRIDTLGLLCESNRSTEIVSMEEMQWIQFFITYNLNSQSPGVRQQICSLLKKLFCRIQESSQVLYKLEQSKSKREPENELTKQHPSVSLQQYKNFMSSICNSLFEALFPGSSYSTRFSALTILGSIAEVFHVPEGRIYTVYQLSHDIDVGRFQTLMECFTSTFEDVKILAFDLLMKLSKTAVHFQDSGKLQGLFQAALELSTSTKPYDCVTASYLLNFLIWQDALPSSLSAYLTQQVACDNGDRPAAVVERNTLMVIKCLMENLEEEVSQAENSLLQAAAAFPMYGRVHCITGALQKLSLNSLQLVSEWRPVVEKLLLMSYRLSTVVSPVIQSSSPEGLIPMDTDSESASRLQMILNEIQPRDTNDYFNQAKILKEHDSFDMKDLNASVVNIDTSTEIKGKEVKTCDVTAQMVLVCCWRSMKEVALLLGMLCQLLPMQPVPESSDGLLTVEQVKEIGDYFKQHLLQSRHRGAFELAYTGFVKLTEVLNRCPNVSLQKLPEQWLWSVLEEIKCSDPSSKLCATRRSAGIPFYIQALLASEPKKGRMDLLKITMKELISLAGPTDDIQSTVPQVHALNILRALFRDTRLGENIIPYVADGAKAAILGFTSPVWAVRNSSTLLFSALITRIFGVKRAKDEHSKTNr|GLLSPARLYAIAAKEKDIQEESTFSSRKISNQFDWALMRLDLSVRRTGRIPKKLLQKVFNDTCRSGGLGGSHALLLLRSCGSLLPELKLEERTEFAHRIWDTLQKLGAVYDVSHYNALLKVYLQNEYKFSPTDFLAKMEEANIQPNRVTYQRLIASYCNVGDIEGASKILGFMKTKDLPVTEAVFSALVTGHARAGDMENAENILTVMRDAGIEPGPDTYLALLNAYAEKGDIDHVKQTLEKVEKSELHLMDRDLLQIIFSFSKAGYPQYVSEILEKVTCERRYIPDAMNLILLLVTEKLEDVALQILLACPVSKEDGPSVFGSFFLQHCVTMNTPVEKLTDYCKKLKEVQMHSFPLQFTLHCALLANKTDLAKALMKAVKEEGFPIRPHYFWPLLVGRRKEKNVQGIIEILKGMQELGVHPDQETYTDYVIPCFDSVNSARAILQENGCLSDSDMFSQAGLRSEAANGNLDFVLSFLKSNTLPISLQSIRSSLLLGFRRSMNINLWSEITELLYKDGRYCQEPRGPTEAVGYFLYNLIDSMSDSEVQAKEEHLRQYFHQLEKMNVKIPENIYRGIRNLLESYHVPELIKDAHLLVESKNLDFQKTVQLTSSELESTLETLKAENQPIRDVLKQLILVLCSEENMQKALELKAKYESDMVTGGYAALINLCCRHDKVEDALNLKEEFDRLDSSAVLDTGKYVGLVRVLAKHGKLQDAINILKEMKEKDVLIKDTTALSFFHMLNGAALRGEIETVKQLHEAIVTLGLAEPSTNISFPLVTVHLEKGDLSTALEVAIDCYEKYKVLPRIHDVLCKLVEKGETDLIQKAMDFVSQEQGEMVMLYDLFFAFLQTGNYKEAKKIIETPGIRARSARLQWFCDRCVANNQVETLEKLVELTQKLFECDRDQMYYNLLKLYKINGDWQRADAVWNKIQEENVIPREKTLRLLAEILREGNQEVPFDVPELWYEDEKHSLNSSSASTTEPDFQKDILIACRLNQKKGAYDIFLNAKEQNIVFNAETYSNLIKLLMSEDYFTQAMEVKAFAETHIKGFTLNDAANSRLIITQVRRDYLKEAVTTLKTVLDQQQTPSRLAVTRVIQALAMKGDVENIEVVQKMLNGLEDSIGLSKMVFINNIALAQIKNNNIDAAIENIENMLTSENKVIEPQYFGLAYLFRKVIEEQLEPAVEKISIMAERLANQFAIYKPVTDFFLQLVDAGKVDDARALLQRCGAIAEQTPILLLFLLRNSRKQGKASTVKSVLELIPELNEKEEAYNSLMKSYVSEKDVTSAKALYEHLTAKNTKLDDLFLKRYASLLKYAGEPVPFIEPPESFEFYAQQLRKLRENSS* 11BR075 ENSG00000108587.15 ENSG00000154975.14(158385),ENSG00000263317.1(72113) +/+ ./- chr17:30510909 chr17:52318402 CDS/splice-site intergenic inversion 1 1 0 148 2 high out-of-frame . Snare_region_anchored_in_the_vesicle_membrane_C-terminus(100%)| . . ENSG00000108587.15 . ENST00000225724.9 . downstream downstream . ^(ACACGCACCATGGTGACTTTCCGGCCTGCATCGCCTCTGCTCCCCTATCCCGGCTGACGTTGGACGACAAAGATGGCGGCAGGGACCAGCAGTTACTGGGAAG___ATCTCAGGAAACAGGCTCGACAGCTGGAAAATGAACTTGACCTGAAACTAGTTTCCTTCAGCAAACTATGTACAAGTTACAGTCATAGCAGTACCCGAGATGGAAGACGCGACAGGTATAG___TTCTGATACAACACCCCTTTTAAATGGATCAAGCCAAGACAGAATGTTTGAGACAATGGCGATTGAGATTGAACAACTTTTGGCAAGG___CTTACAGGGGTAAATGATAAAATGGCAGAATATACCAACAGTGCAGGTGTCCCCTCCTTGAATGCAGCCCTGATGCATACATTACAGCGGCATAGAGACATATTGCAG___GATTATACACATGAATTCCATAAAACCAAAGC)AAACTTTATGGCAATACGGGAAAGGGAGAATCTTATGGGATCAGTACGAAAAGATATTGA___GTCATATAAAAGTGGGTCTGGAGTAAACAACAGAAGAACTGAGCTATTTTTGAAAGAACATGACCACCTTCGAAA___CTCAGATCGTCTGATAGAAGAGACAATAAG|GAATGTACTAAAGAGGAAGCTGGCACCAAAGGGAAGAGGACCTCATGGAAAAACTGATGGACACCGAAAGTAATTCCCCAGAGAGGATTTAAAGGAAGAGAGAAATATGGTAACTCGGCAAAGTAGGC MAAGTSSYWEDLRKQARQLENELDLKLVSFSKLCTSYSHSSTRDGRRDRYSSDTTPLLNGSSQDRMFETMAIEIEQLLARLTGVNDKMAEYTNSAGVPSLNAALMHTLQRHRDILQDYTHEFHKTKANFMAIRERENLMGSVRKDIESYKSGSGVNNRRTELFLKEHDHLRNSDRLIEETIr|nvlkrklapkgrgphgktdghrk* 11BR075 ENSG00000066735.14 ENSG00000246084.5 +/+ +/- chr14:104157942 chr14:97576845 CDS/splice-site intron inversion/3'-3' 1 1 0 15 8 high out-of-frame . . . . ENSG00000066735.14 ENSG00000246084.5 ENST00000315264.7 . downstream downstream . ^(CAGGTGGCCGAGGGCGGCCCGGCCCGCGAGCCGCCGCCGCTGCTGGAGGTGTCCCCCCGAAAGAGGCTACCCGCCGGGCCCGACCAGGACCCATGCGGCAGCCGCCCTGCTCCCGAAGGCGCCGGGGCCGGCCCAGAGCAGGGCCACTCGGCCGGCGGAGGCGGCTGGTGCCGCCACTGCCACACGAAGCTGGTGGAGCTCAAGCGACAGGCGTGGAAGCTGGTCAGCGGGCCCGGGACCACCCTCCGG___GATCCTTGCCTCTCTGCCCTGCTTCTCGACAAGCTACCAGCACCTGGGGCCCTGCCAGCCTGTCGCCCAGAGGCCGAGCGCCGCTGTGACGTCTGCGCCACACACCTGCAGCAGCTCACACGGGAGGCCATGCACCTGCTGCAGGCCCCTGCCAGCCATGAGGACCTTGACGCCCCCCATGGAGGCCCCAGCCTCGCACCCCCCAGCACCACGACCAGCTCGAGGGACACGCCAGGACCAGCGGGTCCTGCAGGGAGGCAGCCAGGACGAGCTGGGCCAGACAGGACCAAGGGGCTGGCCTGGTCCCCCGGGCCCAGTGTCCAGGTGTCTGTAGCACCTGCGGGTCTTGGAGGGGCGCTGAGCACGGTCACCATCCAGGCCCAGCAGTGCCTGGAGGGCATGTGGAGTGTCTCGCGGGTCAACAGCTTCCTCCCGCCGGCGTGCCTG___GCCGAGGCAGCGGTGGCGGCCGTGGCGGTGGCAGACACGGTCCGAGAATGCCCCCCCGTGGCCGGCCCT)GATGGCTTGTCGAAGGCCTGGGGCCGTGGTGGAGTCTGCACGTCAGCCCTGGTCACCCCCACCCCGGGCTCGGTGGGGGGCTCCACAGGCCCCTCAGCTGCAGCCTCCTTCTTCATAAG|ATGTTCACTGAATACCATCTTGGTGTCAGGCAAAGTCCTGGGTCCTGCAGGGCCTCCATCTTTCCACTGGGAGAGTCAAGGAGGGA...ATGTTACATGTTTTTCATTACCATAGAAGACGTTTTTCATCACTGTAGAAGATAGGCAGTAACCTATGTTGGAGAACTTAAGGAAGGCTTCATTGAAGAAGTGACTTTGAACCTGTTTGCTGAAGGATGAGCAAAAGATTTCTGTGAAAG MHLLQAPASHEDLDAPHGGPSLAPPSTTTSSRDTPGPAGPAGRQPGRAGPDRTKGLAWSPGPSVQVSVAPAGLGGALSTVTIQAQQCLEGMWSVSRVNSFLPPACLAEAAVAAVAVADTVRECPPVAGPDGLSKAWGRGGVCTSALVTPTPGSVGGSTGPSAAASFFIr|cslntilvsgkvlgpagppsfhwesqgg 11BR075 ENSG00000233622.3 ENSG00000197408.10 -/- +/- chr19:40809086 chr19:40994796 exon intron duplication/5'-5' 32 17 1 493 200 medium . . . . . ENSG00000233622.3 ENSG00000197408.10 ENST00000641596.1 . upstream downstream duplicates(8),mismappers(5),mismatches(2) ^(GGGGCGGCGCTAAAGCGTAAGGTTAGAATGGAGGTTCATCCTGCAGCCAACAGGAGAAAAGAGCCTAAGAGTCAAAGCCCGAGAGCCAGCCTAGGTCAGGGATGGAGCCCAGCAAAGGCGGGGCCAATGTGTGGATAGGGCACTTGGAGGTCTGGTAAAGAAGCAAAGGGAACGAAGCCGGCCGCAGGAGTCGGAGGCCCCTAAAGGGATGTAGCCAGTGACCCGGCGCTTCCTGGATAGGGCGTGGCCGGCTCCCCGGCCCGCCTCCTTTCCCGTCCCCACCACAGGAATCTTGTTTTCTAACCGGCCGTGCTGGTGGACACTGCGCAATTTTGCACTTGGAGCGCTTAAGAAGTTCGGGTTGGGTACGCGGACCGTCGAGGCGCGCGTCCTGGAGGAGGCGGCTTGTCTGCTAGACGAATTTCAAGCCACCATTGCTTCGGCCTGGCCGGGAGAGCGGAAGGGCCTGGTGTGGGAGAGTCCCTTGCACTGCCAAGACGGGGCCACTGGAAG___GAGCCCCGTTTGACCCCGTGCGGCTACTGGATAATGCTGTATCCAATGTTATCTGTTCTTGTCTTCGGGAACCGCTATCGCTATGGGGACCCGGAGTTCCTGAGGCTCCTGAACCTCTTCAGTGACAACTTCTGCATCATTAGTTCCAGATGGGGCGAGGTGAGAGGGCCGGCCACAATCTTTCCTTGGTGCGTCCAGCCTTATGCCAAATCCCGAGTACACAGACCTACCTACAATGGATCATTAGAATGGGACAGATTCCTGGAAGAGTTCTAGAACATCCAGTATCAAAGTCCTAGTCCAATCTCCCTGTAGGGAAACTAAGGCCTAGTGGCCTTGTGCAGGGCCCATGTTGAGACAGACCCTGTCTCTCCAGATGTACATTTGCCTGTCCCTCATGGACTGGCTCCCGGGCCCGCACCACCGAATCTTCCGAAACTTTTCGGAGCTGCGGGTCATCTCTGAGCAAATTCAACGACACTGGCAGATGCGGCAGCCAGCGGAGCCCCGCGATTTCATTGATTGCTTGACCAGATGGGTAAGGCATGGGTCCCAGCTCTCTAAACTCTATCCATGCCGCCCACCAACAGGTGCCTGGCACGCGGCAGCACATCTCCTCTGCCCACAGTAACAGCAGGACCCGGAGAGCCATTTCCAGGAGTAGACGTCGGTAATGACGACGCATTTTTTTTTTGGCGTCACCGAAACCACGAGCACCACCCTGTGCTATGGGCTCCTCATTCTGCTTAAGTACCTAGAGGTGGCAGGTGTGCAACCCGGAGAGACCCAGAATGGGAGGCTGCAGTCTGGGGATGGCTGGAGGGTCCTGGAAGTGCGCAGCTCACAGCCTCCCCCGGCCTGAGCCAAGGTGCAGGAGCTGGACCCTGTGGTAGGGTGGAGGCCCGCCCCAAGCCTGGACTATCGCGTGTGCCTGCCCTACGCCAACGCAGTGCTGCTCGAGATCCAGTGCTTCATCAGCGTGGTGCCCCTGGGGCTGCCGCGCACCCTCACCCTCGACACCCACCTGCACAGCCACTGTCTGCCCAAAGGTACCCACTGAGTCTGGGGATCCCGTGCGGGACCCGGGTGCATGAGATCAGCCAGAATCAGCAGGTGTGCGCTGTGCAGACCAAAACACAAT)CAGTTACCCCTGGAGCAGGAAGGaAcCTCTGCCTTCCCTTAGGCTTTTTGTTGTTGTTGTTTGAGACGGAGTCTGGCTCTGTCATTCAGGCTAGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACTTCCTGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTACCTGGTATTACAGGCACCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTT|ACTATTAACTAGCTAATAACATAATCACTACTAAATATAGGAAATGTATCTGAATAATGGCTGCAAAAGGCATATTTTGCTTCCAGGCATCCCGTATGCAAGACCTGGGGACTACCTATGGGGGTGTGGGCAATTGCGTGTGTAATGTTACTGGATTAAATATGTAAAGTGGCCAGGCATGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGATTGAGATGGGAGGATTGCTTGAGGCCAAGAGTTCAACATAGCACGACCCCAACTCTATTAAAAACAAATAAATAAG . 11BR075 ENSG00000108953.17 ENSG00000249406.3 -/- +/- chr17:1400047 chr17:50215828 CDS/splice-site exon duplication/5'-5' 20 0 0 447 85 medium out-of-frame . 14-3-3_protein(100%)| . . ENSG00000108953.17 ENSG00000249406.3 ENST00000264335.13 . upstream downstream duplicates(8),inconsistently_clipped(4),mismatches(1) ^(GGATTGAGGCGCCGCCATT)TTTGCTGCCCGGACGCGGAGCGAGAGGCTGAGAGAGTCGGAGACACTATCCGCTTCCATCCGTCGCGCAGACCCTGCCGGAGCCGCTGCCGCTATGGATGATCGAGAGGATCTGGTGTACCAGGCGAAGCTGGCCGAGCAGGCTGAGCGATACGACG|ATTAGGACTCTGCAGAAGGTTTTGTTTGTGGAAAGGCTTTTACTGCTGAAAGCTAACAGTAGGACATTCTATGGAATACCTGAC MDDREDLVYQAKLAEQAERYD|d* 11BR075 ENSG00000115548.17 ENSG00000251974.1(58570),ENSG00000115548.17(17966) +/+ ./+ chr2:86450065 chr2:86422835 intron intergenic duplication 4 10 0 14 22 medium stop-codon . . . . ENSG00000115548.17 . ENST00000409556.5 . downstream upstream . ^(ACTATCGCTCCTCCCTCTAGCTGAGTACGCCTGAAACCGCACGTTCTCTTCCCTGCCCTCCCCCGCTAACCCTGCACCGCCCTCACCCTTTCCTGTGAGATTCTTCCGCCAAGTGGAAGGCTCATCTTCGGTCGACAGCCTACGCGGTTGAAGAACAATCCA___CCTCGCCCAGCTCCTGTGTTTCAGCCAATGAGCGGCGGAAGCGGCTCCGAGGGGGGCGGGTCCGGGAGGCTGTGCGTGTCTTGTGAGAGCTCTTGAACCAAGTCAGCGCTGGAGTCGGCTAGGCGGCTGGAAACGGCGGCTGCCGCCGGTGACTCAGGGAGGCGGGAGGCGGG___GGAGGAGCTCTTCCTGCAGGCGTGGAAACCATGGTGCTCACGCTCGGAGAAAGTTGGCCGGTATTGGTGGGGAGGAGGTTTCTCAGTCTGTCCGCAGCCGACGGCAGCGATGGCAGCCACGACAGCTGGGACGTGGAGCGCGTCGCCGAGTGGCCCTGGCTCTCCGGGACCATTCGAGCTGTTTCCCACACCGACGTTACCAAGAAGGATCTGAAG___GTGTGTGTGGAATTTGATGGGGAATCTTGGAGGAAAAGAAGATGGATAGAAGTCTACAGCCTTCTAAGGAGAGCATTTTTAGTAGAACATA)ATTTGGTTTTAGCTGAACGAAAGTCACCTGAAATTTCTGAACGAATTGTACAGTGGCCTGCAATAGTGAGTAAAACTTGGGCTTATTGAACTCCTGAGAAGAGGGCATTTTATCCATTGTGGGTACAAAAGGAATATGTAAATGTAATGCCAGAAAGTCAGAAAAGCT|AAAATGAGTTATTTAAAAATTCTTAATTTTCTTTGAGTACCTTTATGGTTTCTTTTTTTCCTGGTTTCTCTGACCTTCTGGTATAAGGTGTGAGGTAGGGATTCAACTTCACCTGTTTTCACATGACTACTCAGTTTGTGTTGTGGGACTATTTGTCCTATTTGTAGCCACCCAGTGTCATTTGAATCATATTTCTATACTTGTGGATGTTCTAAAATTGTATTCTGTCTCATCAAAGTAAGGCAGATACAAAGTCA . 11BR075 ENSG00000138095.19 ENSG00000138095.19(9761),ENSG00000219391.1(60144) -/- ./- chr2:43974281 chr2:44005750 CDS intergenic duplication 3 4 1 5 7 medium out-of-frame . Pentacotripeptide-repeat_region_of_PRORP(100%),Pentatricopeptide_repeat_domain(100%)| . . ENSG00000138095.19 . ENST00000260665.12 . upstream downstream . ^(CTTCTGGCGGAGCGTGCTTCCCGCTGCGGGGACGTTCGAGCAATGGCAGCCCTGCTGAGATCCGCGCGTTGGTTGCTGCGTGCCGGGGCGGCCCCGCGCCTCCCGCTCTCCCTGCGCCTCCTCCCTGGCGGCCCGGGCCGGCTGCATGCCGCCTCCTATCTGCCCGCCGCTCGCGCCGGGCCCGTGGCCGG___AGGACTACTGAGCCCAGCCAGGCTGTATGCCATTGCTGCCAAAGAAAAAGATATTCAAGAGGAGTCCACTTTTTCTTCTAGGAAGATTTCCAATCAGTTTGATTGGGCTCTAATGAGACTAGATCTTTCTGTTCGAAGAACTGGCCGCATTCCAAAGAAGCTTCTACAAAAAGTTTTTAATGATACCTGCCGCTCAG___GTGGCCTAGGTGGTAGTCATGCCTTGCTTCTACTACGTAGTTGTGGTTCTCTCTTGCCTGAACTAAAGCTTGAAGAGAGAACAGAATTTGCTCATAGGATATGGGACACACTTCAGAAATTAG___GTGCTGTGTATGATGTGAGTCACTATAATGCTTTACTTAAAGTCTATCTTCAAAATGAATATAAATTCTCACCAACTGATTTCCTGGCAAAAATGGAGGAAGCAAACATTCAACCAAATCGA___GTGACATACCAGAGATTGATTGCTTCTTATTGTAATGTAGGAGATATTGAAGGTGCCAG___CAAGATTCTTGGATTTATGAAAACTAAGGATCTCCCAGTTACAGAGGCAGTATTCAGTGCCCTTGTGACAGGGCATGCCAGAGCTGG___TGATATGGAGAATGCAGAAAACATTCTCACAGTGATGAGAGATGCCGGAATTGAGCCTGGTCCAGACACATACCTCGCATTATTGAATGCATATGCTGAGAAGGGCGACATTGACCATGTTAAGCAG___ACTCTGGAGAAGGTGGAGAAGTCCGAGCTTCACCTTATGGACCGTGATTTACTGCAAATTATTTTTAGCTTCAGTAAAGCTGGGTATCCTCAGTATGTCTCAGAAATTTTGGAAAAAGTTACATGTGAAAGAAGATATATTCCAG___)ATGCAATGAACCTCA|CAAACACATACCTTTCTTTCTATAATTAATTCAAAAAGCGcTTTAATCTAACAACTCAACTGAACCACACTCAAGTGAAAACATGCCACTCACTCTTTAGTGGGAGACAACCCCAAGACAGACATCGTTTATACATCCTtCTTTGTGTACCACATTTCCTGAATGTGGCTCATTGTGATCTAATAGTCTATGGATAAATTATAAATTTATCTAACCCAACAGGCTCAACACATAGTGGTGGGAAGAAAACCAGGCGGATTGCAATAAAAATTCACATTTAAAAATGAGAAAAGGAGGAAAT MAALLRSARWLLRAGAAPRLPLSLRLLPGGPGRLHAASYLPAARAGPVAGGLLSPARLYAIAAKEKDIQEESTFSSRKISNQFDWALMRLDLSVRRTGRIPKKLLQKVFNDTCRSGGLGGSHALLLLRSCGSLLPELKLEERTEFAHRIWDTLQKLGAVYDVSHYNALLKVYLQNEYKFSPTDFLAKMEEANIQPNRVTYQRLIASYCNVGDIEGASKILGFMKTKDLPVTEAVFSALVTGHARAGDMENAENILTVMRDAGIEPGPDTYLALLNAYAEKGDIDHVKQTLEKVEKSELHLMDRDLLQIIFSFSKAGYPQYVSEILEKVTCERRYIPDAMNL|tntylsfyn* 11BR075 ENSG00000117242.7 ENSG00000117245.12 -/- -/- chr1:20652026 chr1:20666331 exon CDS/splice-site duplication 5 0 0 485 32 medium . . . . . ENSG00000117242.7 ENSG00000117245.12 ENST00000451424.1 ENST00000247986.2 upstream downstream duplicates(1),mismappers(13) ^(A)CTTTGAATTGCTAAAAGTGGCATTTTTCCTATGTGCAGTCACTCCTCTCATTTCTAAAATAGGGACGTGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGCTCACGAGGTCAGGAGATCGAGACTATCCTGGCTAACACG|GAGGAgGACCGCTACAGGCTCATGCTCAGTCGGAGCAACAGTGAAAACATTGCCAGCAACTACTTCCGATCTAAGCGGGCCAGCCAGATCCTCAGCACAGACGCCAGGAAGAGCCTCA___CACATCACAACTCGCCACCAGGCCTCAGCTGCCCACTC(AGCAACAACTCTGCCATCCCACCCACCCAGGCCCCTGAAATGCCCCAGCCCCGGCCCTTCCGCCTCGAGTCCCTCGACATCCCTTTCACCAAGGCCAAGCGTAAGAAAAGCAAAAGCAACTTTGGCAGTGAGCCTCTGTGAGCACAGCTGCTTGCCATTGCCTGCCTTATAGGCATGTAGAGACTGCCAGGCCCTCCCAGGGCAGCCCCAACCAGGTCTCCTCCCACCTGCCACACAGCGCTCCGGGGCCTGAGGGCTCCCTCAGCCCTGGGAAGACACATTCCCTTCCCTGTTCCCCAGAGAGCCCACCTCCGCCCTGGGCAGGAGCCCCTCGGAGGCTGTATAGTCCTCCTTAGAGAGGCCTGCTCCAGCTGTTCATACCACATCAGTGTTTCCGTCTGCTCACCTGCCACAGAGCCCACACCCATGCCCACCAGTGTTGGTCTTTGCCTCAAAGCCTGAGACCTGCTTCACGGCCTTCACCAGCCCTGATGGAGAGGGCAGCAGCTGCCACGTGGAGGAAGCTCAATATCAGCTGGGAAGGAACTGTGCCTCTGTCTGACTGGCCCCACTTCCTAAGCACTGCCCTGCCCCATGGGGTGGCACAGGGGTCCCACAGCAGGTCTTCCTGCACTGCCCACCCCTGGCTGGTCTGTGGCCCAAGGAAGGCCACTCCACATTAAGCTGCCCAATAAACTGCTTTTAAGAT)$ . 11BR075 ENSG00000162627.17 ENSG00000188641.14 +/+ -/+ chr1:98691185 chr1:97772431 CDS/splice-site intron duplication/5'-5' 3 0 0 93 4 medium out-of-frame . PX_domain(100%)| . . ENSG00000162627.17 ENSG00000188641.14 ENST00000529992.5 . downstream upstream . ^(GGTGGCGGCCGGCTGGGCGCGCACTCTCGGGATGGAGGGCGAGCGCCGGGCATCGCAGGCGCCCTCCTCGGGCCTCCCGGCCGGGGGCGCCAACGGGGAGAGCCCGGGGGGCGGCGCCCCCTTTCCGGGCAGCAGTGGCTCTTCCGCCCTGCTGCAGGCGGAGGTGCTGGATCTGGACGAGGACGAGGACGACCTGGAGGTGTTCAGCAAG___GATGCCTCATTGATGGACATGAACTCCTTCAGCCCTATGATGCCAACATCCCCTTTATCAATGATAAACCAAATCAAGTTTGAGGATGAA)CCAGATTTAAAGGATCTCTTCATCACAGTTGATGAACCTGAAAGTCATGTTACTACAATAGAAACTTTCATTACGTATAGGATTATTACTAAG___ACATCTCGTGGGGAATTTGACTCCAGTGAATTTGAAGTTAGGAGACGATATCAAGATTTCCTTTGGTTGAAGGGAAAACTGGAAGAAGCACACCCCACTCTGATTATTCCA|AAAACTGTAGAGAAGCCACTTGAATTTGGAGAACTCCACAGTCATCTATAAAAGTATAATTTCAATAGATCACATTGAAGGCAGAAGTGTAATTTCACAGGTTGGAAGTAAGCATTTGAT MEGERRASQAPSSGLPAGGANGESPGGGAPFPGSSGSSALLQAEVLDLDEDEDDLEVFSKDASLMDMNSFSPMMPTSPLSMINQIKFEDEPDLKDLFITVDEPESHVTTIETFITYRIITKTSRGEFDSSEFEVRRRYQDFLWLKGKLEEAHPTLIIP|ktvekplefgelhshl* 11BR075 ENSG00000136546.16(272234),ENSG00000163092.21(121920) ENSG00000237520.1 ./+ +/+ chr2:166766560 chr1:234957231 intergenic exon translocation 2 1 0 12 12 medium . . . . . . ENSG00000237520.1 . ENST00000423963.1 downstream upstream . GCCTTTCCTTGGCCCCGGCTGCGACCAATTGTTATTTTAGGGAGACAGCTTAcCAACTGCCTGACGGGTGCTTGATGGTCACCTGACCTTCCTGGTGTGGGaCCGGGAGCCTGATTACCTACCTACTATAAGAGTGCTTCCTCCAAACTGCAAGCTTCTGATAACCAAACCTCTTCCCTTTGGTCACTGAGAG|CTGCTCAGCAAATTCCTTGATTTGAAATTACGATCACAGGTTGGAGTGCTACTTAAAATAATTTTGCCAAATGTTCCATCTCTCTGTGTTGATGAATATAATGGATGACAATTTAAAGAGCAAAAAAAAA___gTCTCTGCATTTAATGAGGAAGTGCTGTCAGCAGAAAGGAGAGGAAGCTTCACCCCGACCATCCGCAGG(ACCCACATCCCTCTCAGCGGGAAGGCAGAATCATTCATCTATTGCTCTCCTTGAAGGGCAGCTCCAGACACTCACGTGGACACAAGTAGGAAAAGCACAGAGTGTGTCATCACACTGTGTACCTCATACAGGTGACGTCCTGGAGAAACCTCTGGAAAAACAGAAATTTTATGACCCACAATTAAAATGATTTAAGTAATAAATAACCCTGATAGCTTGCCCCA)$ . 11BR075 ENSG00000100605.17 ENSG00000133958.13 -/- +/- chr14:92993880 chr14:93500439 CDS/splice-site intron duplication/5'-5' 0 2 0 105 3 medium out-of-frame . Inositol_1__3__4-trisphosphate_5/6-kinase(100%)| . . ENSG00000100605.17 ENSG00000133958.13 ENST00000267615.11 . upstream downstream . ^(GCTTCCTCGCCGCCGCGGGCTCAAGCGGGGCGGCCGGGCCAGCGCGGGGCGGCGGCGGGCAGGGGCGGCGAGTGCGCGGGCGCTCGCCGCCGCCCTTCTCGGCGGGCAGCGCGCGAGGACCAGGCCGAGGAGGAAGTGGCGGCGGCGGCGGCGG___GACTGCGCGCCCCAGCTCCGATCCCCGTTCCGCGTCCCCGCCGCCGGGAGGAGGTGCCCACTCGCTCGCGGCGCGCGCCGGCCGCCAGACTCGGCCTGTGGGCGATTTCCTCCGGACCCAGGCTCCCCGCCCGAGGAGGAAGATGCAGACCTTTCTGAAAGGGAAGAGAGTTGGCTACTGGCTGAGCGAGAAGAAAATCAAGAAGCTGAATTTCCAGGCCTTCGCCGAGCTGTGCAG___GAAGCGAGGGATGGAGGTTGTGCAG___CTGAACCTTAGCCGGCCGATCGAGGAGCAGGGCCCCCTGGACGTCATCATCCACAAGCTGACTGACGTCATCCTTGAAGCCGACCAGAATGATAGCCAGTCCCTGGAGCTGGTGCACAGGTTCCAG___GAGTACATCGATGCCCACCCTGAGACCAT)CGTCCTGGACCCGCTCCCTGCCATCAGAACCCTGCTTGACCGCTCCAAGTCCTATGAGCTCATCCGGAAGATTGAGGCCTACATGGAAG|AATGCCATGGTCTACTAGAATGGGAGTTTCAAGAGAGCTACTTCCCCAGTACTTAGGACAGTGCCTGGAGGGCAGCAGGCATCCCATAACAGACTGCTGAAAGAATGGAAGCATGACCATATCATTGCAAGGATGGAC MQTFLKGKRVGYWLSEKKIKKLNFQAFAELCRKRGMEVVQLNLSRPIEEQGPLDVIIHKLTDVILEADQNDSQSLELVHRFQEYIDAHPETIVLDPLPAIRTLLDRSKSYELIRKIEAYME|echgllewefqesyfpst* 11BR075 ENSG00000153237.18 ENSG00000196482.18 -/- -/+ chr2:158456415 chr1:216553201 CDS/splice-site intron translocation/5'-5' 0 2 0 5 3 medium out-of-frame . . . . ENSG00000153237.18 ENSG00000196482.18 ENST00000283233.10 . upstream upstream . ^(ATAGAGACCGATGCTGTTCAGCGCGAGAGGGCCTGGAGAGGGTGGGTGTGAGAGAGAAGGTGTCTCAGGTCTCGGGCGCGGGAGGGGGTGGCGGAGAGGACAGGGAGATTCCCCAGCGCTGGCTCTGAAATCTGGGGCAGGCTTTCCTTGCCTTACTGCCAATCCCAACTGTGCCTGGTAGGGTTTGTCCCTGGCGTCAAAGGTAGGAACAGCTGAGCCCTTAGATGTACCCCTGACGGCGAGAGCCCAGGAGTGGGCGTTTCACTTTTCCTGCGTTTGGGGAGTC)CCTGAGGCTATGCCCTTTGACCTTTGACATGTGTGCAGCTTCTGCTTCTCCAG|CCCAGGCCACCATGTGCCCTGGCACAAACGTGCTGACTGGTGGAGGAGGCCCAGCACTTCAG___AAAATGTACCTGGAATATGCTTCGCCCATCCAATG...ACCACCAACTCTCGGTCGGCCAAGTCACACAGTGTAGTGAGGGCTTTGATGTCACTGTCGGGGACAGTAGGGTCAGGCATGGCATAGATCTTCTCCGGTTCAGCCACCAACAAATGTGAGACAATCTTGTTATCTGCAGGATCAGACCAGAGCACTACAAGATCACTAGTAGTATCATCCCTCTTTTATAAACCCTAGAG MCAASASP|aqatmcpgtnvltggggpalqkmyleyaspiq 11BR075 ENSG00000114030.13 ENSG00000173175.14 -/- -/- chr3:122496437 chr3:123303219 CDS/splice-site CDS/splice-site duplication 0 1 1 172 57 medium in-frame . Importin_beta_binding_domain(100%)|Adenylate_and_Guanylate_cyclase_catalytic_domain(100%) . . ENSG00000114030.13 ENSG00000173175.14 ENST00000344337.11 ENST00000462833.5 upstream downstream . ^(GCACTGCGAACGCCGGCTGAGCTGAGTCTCGCTGCTCGGTGCGAGGCGGCGGAGAGCGAGGCCTGGTGAGCACCGCCGAGGCGCGGGCCAGCTCTTCGAGGTTGTGCGCGGGAGTGGCACGGCGGGCGGGCGAGCGAGGG)GCTAACTTCcGCGGTGGCACCGGGATCGGTTGCCTTGAGCCTG___AAATCATGACCACCCCAGGAAAAGAGAACTTTCGCCTGAAAAGTTACAAGAACAAATCTCTGAATCCCGATGAGATGCGCAGGAGGAGGGAGGAAGAAGGACTGCAGTTACGAAAGCAGAAAAGAGAAGAGCAG|TTCACGTGCAACTCCAGGGACCTGCTGGGCTGCTTGGCACAGGAGCACAACATCAGCGCGAGCCAGGTCAACGCGTGTCACGTGGCGGAGTCGGCCGTCAACTACAGCCTGGGCGATGAGCAG(GGCTTCTGTGGCAGCCCCTGGCCCAACTGCAACTTCCCCGAG___TACTTCACCTACAGCGTGCTGCTCAGCCTGCTGGCCTGCTCCGTGTTCCTGCAGATCAGCTGCATCGGGAAGCTGGTGCTCATGCTGGCCATCGAGCTCATCTACGTGCTCATCGTGGAGGTGCCAGGTGTCACGCTCTTCGACAACGCCGACCTGCTGGTCACCGCCAACGCCAT___AGACTTCTTCAACAACGGGACCTCCCAGTG___CCCTGAGCATGCAACCAAGGTGGCATTGAAGGTGGTGACGCCCATCATCATCTCAGTCTTTGTGCTGGCCCTGTACCTGCACGCCCAGCAGGTGGAGTCCACTGCCCGCCTCGACTTCCTCTGGAAACTGCAG___GCCACAGAGGAGAAAGAGGAGATGGAGGAGCTGCAGGCCTACAACCGGCGGCTGCTGCACAACATCCTGCCCAAGGACGTGGCCGCTCACTTCCTGGCCCGCGAGCGGCGCAATGATGAGCTCTACTATCAGTCCTGTGAGTGTGTGGCGGTCATGTTCGCCTCCATCGCCAACTTCTCCGAGTTCTACGTTGAGCTGGAGGCCAACAACGAGGGTGTCGAGTGCCTGCGGCTACTCAATGAGATCATCGCTGACTTTGATGAG___ATCATCAGCGAGGATCGGTTCCGGCAGCTGGAGAAGATCAAGACCATCGGCAGCACCTACATGGCTGCCTCCGGCCTCAACGACTCTACCTACGACAAGGTGGGCAAGACCCACATCAAGGCACTGGCCGACTTTGCCATGAAGCTGATGGACCAGATGAAGTACATCAATGAGCACTCCTTCAACAACTTCCAGATGAAGATCG___GGCTCAACATCGGCCCCGTGGTGGCCGGGGTGATAGGGGCACGAAAGCCTCAGTACGACATCTGGGGCAATACCGTGAACGTGGCCAGCCGCATGGACAGCACCGGTGTACCCGACCGCATCCAG___GTCACCACAGACATGTACCAGGTGCTGGCTGCCAACACGTACCAGCTGGAGTGCCGGGGCGTGGTCAAGGTCAAGGGCAAAGGCGAGATGATGACCTACTTCCTCAATGGAGGGCCCCCGCTCAGTTAGCAGCTGTTGGCCAATGGTGCCAGGCAGCCTGGCCTCCAGAGGCATGGAAGCAGCTTCTCTGTGTGCCGGGGGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTGCGCTGCTGAGATTTTCCACTTGGACTCCAGAGCAGCTTCTGCCTTTGCTGGTGGGCAGCGGCCTCTGTCCCAGGCCCCGGGGTGCCAGCGTCCTGCGAGCACCCAGCTGACCAAAGATGTTTCCCTCTGTAGAAGACTCTGCTAGACTGGGTCTGAAGCTTGAGTTTTCTAACAGGTGCTGCTGCACAGGTGGAAAGGAGCCGTGGGAATGTGTGTGTGGCACGGCCCAGACAAGGGCAGGGCTGAGGGGCCTCCGACTCAGCTGGGGGTAGACGGGCTCGAATGTGGCCTGGGAGAGCCTAGGGGGCCCCAGGGGTCTGCTTTTCTATGTGAGCCTTTAAACTTCAGACAGGCCACCACCCTGCACCTGCAGGGGCTTTGGCACAGGAGTGCTGGCTTTGGAGGGACTGTGGCCTTCATCGTGGTCCTCTGCCCACACCTCCACGCACACAGACAGTGCCCTAGGAGGGAAACAGAACTAATTACGAGGGGGAGGCAAGAGGACGCCAAGCAAGGAGTGGTGATTCTGAGAAAAATATTTATTAAATAAAACAAAACAAGTTCTCCGTGCCCTTCTTTAGACTATGCTAGTTGTATGCGTGTAAGAGACACACAAGCAAACGAGGACGCCACTCGGGGGGAGGGCGGGGATCCCCACTTGTCTTTTTTGTATTTTTTATTTTGTATTATTGAAAGCCTTGGAGATCTCACAGATAGATATGCCAAATTCTATATTTTGTAAATTCTCTATATTAGAAAACAGCTGTGCACAGCAGGGCGGGTGTGCTCATTTGTACTGTGTGTATGTCGGTGTATGTACTGGTGTATATGTGTGTGTGTTCATGCTGTGGAACTGGTCTCACACAGGATGTGTTTCCCTCATTTCAGATTTGGCAGTTTTGGGTTTTCCAAGGTACCACCAGAGCAGTGGGTGTGTGCTTTTGGGGTACCATATGCTCAGATTAAGTAGGAGGATGCATGGACACACTGCCCCATCTTTTCTGACACACGCACACGTATGTACACACATGCACACACCCTCCTTCCCCTAAGCAAAACGCAGATGGAATAAGAAAACAAAAAGCTGCTTTCCCATCCCAGGCCGAGCTGGAACCAAGGGAAGCAATCTCATCCTGCGACAGGCAGTGTGGTGCCCTCCACACCCTGAGATTTCAGACGTTTGCGGCTTACAGAGGCAGCGCCCACAGATTCCAGAGTGCTTACAGAAGGCCAGGTGCTTTGCAGGCTGGGACGAGGAAGCCAAGCCTCCCTGGCCTACTCAGTTGGCCAAGGTGCAGGTGGCTCTTCCTGGAGATGTTCACTCAGACTGGGGGATGCAATGTGCAGCCTTCAGGTTTGCGGAAAGGGAGTGGCCTTGACCTCCACCGGCAAACCAGGCAGAGGAATGGGTAGAGCCCAGCTTTAGAGTCCACAGGGAAAGCTAGCAGGAATTTTGTTTTAGTGGGAGGGGGCAGTTAAACATACCAAGAAAAAAATACTATTTTTATAACCTATGAGGAAGACATTTGGAAAATGATACTCTAGCACAGAATTCAGTGGAATCCTTAGGGCCCATGCCCAAATCTTTCCATTGCTTCTCAGGTTAGAATGATCTTCACCTCCAACATGAGCTTGGAGGTGATGAGGCAGTGGCTCTGTGCCAGCTGCCACAATGTGACTTTGATGTCCACCTGTACCACCTCTCACTGGGCTCTAGCACCACCCTCCCCTCCCCGCACACCAACTGAACACAGCTCTGAGAAGCAAAGTGTGTGGACCCAAAACTGCCAAGCCTGAGTCTGTCCCGTGCTTCTGCTGCTCCATCCTTTGAGTTCTGCATTGCCATCCTGACGTCGGCCACAGGAGGCCTGCTTTCTTCCAGCTGTTGTTCTCAAGTTCCCTGCCCCTCCACATCGCCCGCCAGTGGTGTTGGGTTTTCGTTCTGCTTCCAACCTGAGTAAAGTGTGTGTGCTGAGTTCATCCCATGTTCTCCCATGGTCATGGCTTCCCGGCCCCATGGGGACCCCTCTCCCATCCCAGCAGTGACTGGTGACAGTGTGCAGGTGCAGTGCTAGCTCTTCGTTCCCTCTAAAGGGTGTGCACTCTTTTTATTCCTACTCTTGCAAAAACAGATACGATTATGATTTCCCATGGAAATTGAAAAGTCTATTTAAATAATTTAACTATTAAACACTTTCACTGGTAA)$ MTTPGKENFRLKSYKNKSLNPDEMRRRREEEGLQLRKQKREEQ|FTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSPWPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFFNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTYDKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS* 11BR075 ENSG00000114030.13 ENSG00000173175.14 -/- -/- chr3:122496437 chr3:123304183 CDS/splice-site CDS/splice-site duplication 1 0 1 172 72 medium in-frame . Importin_beta_binding_domain(100%)|Adenylate_and_Guanylate_cyclase_catalytic_domain(100%) . . ENSG00000114030.13 ENSG00000173175.14 ENST00000344337.11 ENST00000462833.5 upstream downstream . ^(GCACTGCGAACGCCGGCTGAGCTGAGTCTCGCTGCTCGGTGCGAGGCGGCGGAGAGCGAGGCCTGGTGAGCACCGCCGAGGCGCGGGCCAGCTCTTCGAGGTTGTGCGCGGGAGTGGCACGGCGGGCGGGCGAGCGAGGG)GCTAACTTCcGCGGTGGCACCGGGATCGGTTGCCTTGAGCCTG___AAATCATGACCACCCCAGGAAAAGAGAACTTTCGCCTGAAAAGTTACAAGAACAAATCTCTGAATCCCGATGAGATGCGCAGGAGGAGGGAGGAAGAAGGACTGCAGTTACGAAAGCAGAAAAGAGAAGAGCAG|CTCTTCCCCTCCCCACTGCAGACCCTCTCCAGGAAGATCGTGCG(GTCCAAGATGAACAGCACCCTGGTTGGGGTGTTCACCATCACCCTGGTGTTCCTGGCGGCTTTTGTCAACATG___TTCACGTGCAACTCCAGGGACCTGCTGGGCTGCTTGGCACAGGAGCACAACATCAGCGCGAGCCAGGTCAACGCGTGTCACGTGGCGGAGTCGGCCGTCAACTACAGCCTGGGCGATGAGCAGGGCTTCTGTGGCAGCCCCTGGCCCAACTGCAACTTCCCCGAG___TACTTCACCTACAGCGTGCTGCTCAGCCTGCTGGCCTGCTCCGTGTTCCTGCAGATCAGCTGCATCGGGAAGCTGGTGCTCATGCTGGCCATCGAGCTCATCTACGTGCTCATCGTGGAGGTGCCAGGTGTCACGCTCTTCGACAACGCCGACCTGCTGGTCACCGCCAACGCCAT___AGACTTCTTCAACAACGGGACCTCCCAGTG___CCCTGAGCATGCAACCAAGGTGGCATTGAAGGTGGTGACGCCCATCATCATCTCAGTCTTTGTGCTGGCCCTGTACCTGCACGCCCAGCAGGTGGAGTCCACTGCCCGCCTCGACTTCCTCTGGAAACTGCAG___GCCACAGAGGAGAAAGAGGAGATGGAGGAGCTGCAGGCCTACAACCGGCGGCTGCTGCACAACATCCTGCCCAAGGACGTGGCCGCTCACTTCCTGGCCCGCGAGCGGCGCAATGATGAGCTCTACTATCAGTCCTGTGAGTGTGTGGCGGTCATGTTCGCCTCCATCGCCAACTTCTCCGAGTTCTACGTTGAGCTGGAGGCCAACAACGAGGGTGTCGAGTGCCTGCGGCTACTCAATGAGATCATCGCTGACTTTGATGAG___ATCATCAGCGAGGATCGGTTCCGGCAGCTGGAGAAGATCAAGACCATCGGCAGCACCTACATGGCTGCCTCCGGCCTCAACGACTCTACCTACGACAAGGTGGGCAAGACCCACATCAAGGCACTGGCCGACTTTGCCATGAAGCTGATGGACCAGATGAAGTACATCAATGAGCACTCCTTCAACAACTTCCAGATGAAGATCG___GGCTCAACATCGGCCCCGTGGTGGCCGGGGTGATAGGGGCACGAAAGCCTCAGTACGACATCTGGGGCAATACCGTGAACGTGGCCAGCCGCATGGACAGCACCGGTGTACCCGACCGCATCCAG___GTCACCACAGACATGTACCAGGTGCTGGCTGCCAACACGTACCAGCTGGAGTGCCGGGGCGTGGTCAAGGTCAAGGGCAAAGGCGAGATGATGACCTACTTCCTCAATGGAGGGCCCCCGCTCAGTTAGCAGCTGTTGGCCAATGGTGCCAGGCAGCCTGGCCTCCAGAGGCATGGAAGCAGCTTCTCTGTGTGCCGGGGGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTGCGCTGCTGAGATTTTCCACTTGGACTCCAGAGCAGCTTCTGCCTTTGCTGGTGGGCAGCGGCCTCTGTCCCAGGCCCCGGGGTGCCAGCGTCCTGCGAGCACCCAGCTGACCAAAGATGTTTCCCTCTGTAGAAGACTCTGCTAGACTGGGTCTGAAGCTTGAGTTTTCTAACAGGTGCTGCTGCACAGGTGGAAAGGAGCCGTGGGAATGTGTGTGTGGCACGGCCCAGACAAGGGCAGGGCTGAGGGGCCTCCGACTCAGCTGGGGGTAGACGGGCTCGAATGTGGCCTGGGAGAGCCTAGGGGGCCCCAGGGGTCTGCTTTTCTATGTGAGCCTTTAAACTTCAGACAGGCCACCACCCTGCACCTGCAGGGGCTTTGGCACAGGAGTGCTGGCTTTGGAGGGACTGTGGCCTTCATCGTGGTCCTCTGCCCACACCTCCACGCACACAGACAGTGCCCTAGGAGGGAAACAGAACTAATTACGAGGGGGAGGCAAGAGGACGCCAAGCAAGGAGTGGTGATTCTGAGAAAAATATTTATTAAATAAAACAAAACAAGTTCTCCGTGCCCTTCTTTAGACTATGCTAGTTGTATGCGTGTAAGAGACACACAAGCAAACGAGGACGCCACTCGGGGGGAGGGCGGGGATCCCCACTTGTCTTTTTTGTATTTTTTATTTTGTATTATTGAAAGCCTTGGAGATCTCACAGATAGATATGCCAAATTCTATATTTTGTAAATTCTCTATATTAGAAAACAGCTGTGCACAGCAGGGCGGGTGTGCTCATTTGTACTGTGTGTATGTCGGTGTATGTACTGGTGTATATGTGTGTGTGTTCATGCTGTGGAACTGGTCTCACACAGGATGTGTTTCCCTCATTTCAGATTTGGCAGTTTTGGGTTTTCCAAGGTACCACCAGAGCAGTGGGTGTGTGCTTTTGGGGTACCATATGCTCAGATTAAGTAGGAGGATGCATGGACACACTGCCCCATCTTTTCTGACACACGCACACGTATGTACACACATGCACACACCCTCCTTCCCCTAAGCAAAACGCAGATGGAATAAGAAAACAAAAAGCTGCTTTCCCATCCCAGGCCGAGCTGGAACCAAGGGAAGCAATCTCATCCTGCGACAGGCAGTGTGGTGCCCTCCACACCCTGAGATTTCAGACGTTTGCGGCTTACAGAGGCAGCGCCCACAGATTCCAGAGTGCTTACAGAAGGCCAGGTGCTTTGCAGGCTGGGACGAGGAAGCCAAGCCTCCCTGGCCTACTCAGTTGGCCAAGGTGCAGGTGGCTCTTCCTGGAGATGTTCACTCAGACTGGGGGATGCAATGTGCAGCCTTCAGGTTTGCGGAAAGGGAGTGGCCTTGACCTCCACCGGCAAACCAGGCAGAGGAATGGGTAGAGCCCAGCTTTAGAGTCCACAGGGAAAGCTAGCAGGAATTTTGTTTTAGTGGGAGGGGGCAGTTAAACATACCAAGAAAAAAATACTATTTTTATAACCTATGAGGAAGACATTTGGAAAATGATACTCTAGCACAGAATTCAGTGGAATCCTTAGGGCCCATGCCCAAATCTTTCCATTGCTTCTCAGGTTAGAATGATCTTCACCTCCAACATGAGCTTGGAGGTGATGAGGCAGTGGCTCTGTGCCAGCTGCCACAATGTGACTTTGATGTCCACCTGTACCACCTCTCACTGGGCTCTAGCACCACCCTCCCCTCCCCGCACACCAACTGAACACAGCTCTGAGAAGCAAAGTGTGTGGACCCAAAACTGCCAAGCCTGAGTCTGTCCCGTGCTTCTGCTGCTCCATCCTTTGAGTTCTGCATTGCCATCCTGACGTCGGCCACAGGAGGCCTGCTTTCTTCCAGCTGTTGTTCTCAAGTTCCCTGCCCCTCCACATCGCCCGCCAGTGGTGTTGGGTTTTCGTTCTGCTTCCAACCTGAGTAAAGTGTGTGTGCTGAGTTCATCCCATGTTCTCCCATGGTCATGGCTTCCCGGCCCCATGGGGACCCCTCTCCCATCCCAGCAGTGACTGGTGACAGTGTGCAGGTGCAGTGCTAGCTCTTCGTTCCCTCTAAAGGGTGTGCACTCTTTTTATTCCTACTCTTGCAAAAACAGATACGATTATGATTTCCCATGGAAATTGAAAAGTCTATTTAAATAATTTAACTATTAAACACTTTCACTGGTAA)$ MTTPGKENFRLKSYKNKSLNPDEMRRRREEEGLQLRKQKREEQ|LFPSPLQTLSRKIVRSKMNSTLVGVFTITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSPWPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFFNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTYDKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS* 11BR075 ENSG00000161010.15 ENSG00000050748.17 -/- -/- chr5:179853378 chr5:180249138 CDS/splice-site CDS/splice-site duplication 1 1 0 28 111 medium in-frame . |Protein_kinase_domain(100%) . . ENSG00000161010.15 ENSG00000050748.17 ENST00000518235.5 ENST00000452135.6 upstream downstream . ^(ACAAG)CAGGGATGGCGTCGCTTCAGCGTTCTCGGGTGCTACGCTGCTGCAGCTGtCGCCTCTTCCAGGCGCACCAG___GTAAAAAAGAGTGTCAAGTGGACATGCAAAGCTTGTGGAGAGAAGCAGTCCTTTTTGCgG|GATTTGAAGCCTAGCAACATTGTTGTGAAATCAGACTGCACCCTGAAGATCCTTGACTTTGGCCTGGCCCGGACAGCGTGCACTAACTTCATGATGAC(CCCTTACGTGGTGACACGGTACTACCGGGCGCCCGAAGTCATCCTGGGTATGGGCTACAAAGAGAACG___TTGATATCTGGTCAGTGGGTTGCATCATGGGAGAGCTGGTGAAAGGTTGTGTGATATTCCAAGGCACTGACC___ATATTGATCAGTGGAATAAAGTTATTGAGCAGCTGGGAACACCATCAGCAGAGTTCATGAAGAAACTTCAGCCAACTGTGAGGAATTATGTCGAAAACAGACCAAAGTATCCTGGAATCAAATTTGAAGAACTCTTTCCAGATTGGATATTCCCATCAGAATCTGAGCGAGACAAAATAAAAA___CAAGTCAAGCCAGAGATCTGTTATCAAAAATGTTAGTGATTGATCCTGACAAGCGGATCTCTGTAGACGAAGCTCTGCGTCACCCATACATCACTGTTTGGTATGACCCCGCCGAAGCAGAAGCC___CCACCACCTCAAATTTATGATGCCCAGTTGGAAGAAAGAGAACATGCAATTGAAGAATGGAAAG___AGCTAATTTACAAAGAAGTCATGGATTGGGAAGAAAGAAGCAAGAATGGTGTTGTAAAAGATCAGCCTTCAG___ATGCAGCAGTAAGTAGCAACGCCACTCCTTCTCAGTCTTCATCGATCAATGACATTTCATCCATGTCCACTGAGCAGACGCTGGCCTCAGACACAGACAGCAGTCTTGATGCCTCGACGGGACCCCTTGAAGGCTGTCGATGATAGGTTAGAAATAGCAAACCTGTCAGCATTGAAGGAACTCTCACCTCCGTGGGCCTGAAATGCTTGGGAGTTGATGGAACCAAATAGAAAAACTCCATGTTCTGCATGTAAGAAACACAATGCCTTGCCCTACTCAGACCTGATAGGATTGCCTGCTTAGATGATAAAATGAGGCAGAATATGTCTGAAGAAAAAAATTGCAAGCCACACTTCTAGAGATTTTGTTCAAGATCATTTCAGGTGAGCAGTTAGAGTAGGTGAATTTGTTTCAAATTGTACTAGTGACAGTTTCTCATCATCTGTAACTGTTGAGATGTATGTGCATGTGACCACAAATGCTTGCTTGGACTTGCCCATCTAGCACTTTGGAAATCAGTATTTAAATGCCAAATAATCTTCCAGGTAGTGCTGCTTCTGAAGTTATCTCTTAATCCTCTTAAGTAATTTGGTGTCTGTCCAGAAAAAGTCGATTTATGTGTATTAATTGGCCATCATGATGTTATCATATCTTATTCCCTTTTATGCTATGATTTATTCTATCTTTTGTATTTCAGAAGACATATAATTAAATCTATTTAATAAATAAAAATATATAGCTTTTCTTAGATTTGTGATGTTTGGGGCTGAGAATTATCACGGCTAAAACCAAGACACTTATGTGGACATCTTGTTTTCTTTAAACTGTCTTGTCTGGGATGATTGTACATTCAGCTTTACTGCACGATACAATTTTAAGTTTTGCTTAGTGCTGCTTGAAATCCTAGCTACCTTATCTCTTTTCTTCTTGGTCTTCTAGACTTCTTATGAATTTAAAATGCTACCTAGAACTTCACCTTCTTTATTAGGTGCGTAACACTCCATCTTAATTAAATATGATGGCAGATAGGTTCCTGCATCCATGGCCTAACGTTGGAGTGGAATTTTACAAAATGCTCACTAGAGATCACTGCAGTCATTTCCTAAGTGCTTCCTTTGCCACAGACTGGCCTGGGTCCTTTATTTACCTTCCCTCATTCACTTTCCCTCGGCCAATACCACGTTCTTGATTTTCTTTCTTCACTGGAAGAAAGCAGATAAACTCCTCTTTGGTCTGTTTTCAGAGGCCAGGCTGATTCAGATGCCTGTTGCTATTGTTGCTCTCCATTGTTGGGAGGCATTCCTTTTCACAAGAATGTTCTGGGAAACTCTTCAGAGGACGTGAAGGAAATACCCTGAAGAGTCATGATTAACTATTGACTATTTTCTGATTTAAAACTGCTCACCTGAAATTGATACTTTTAGACTTTACGATCAGTAAATTATTCAGAATTCATGAAGATGCTGAGTATGTTAAGTGTCACTGCAGGAACGGAGCTGTGGTGATCACGTTTTGCCTGCCTGTGCCCATGTCTCTTCCCTTGAGCTTATTCTGTTGCTGATTCATATCTTGTGTTCAATTATTTTGGAAGCTTTTCAGTCGACATTCTGTAGAGTGTGTTCTGAGGAGGAACTGTGATAAGAAAGTTTATTATAAATATTATGTAAAATATATGGCTCTCTCTGCACCAGTTATATCTTATTGGTTGGTCATATCACTGGAAACTGGAACCTTTGATTAGCAAAATTAATATTGAAATAAGAAATAGTTCTTTTATATTGTGTCATTTGGACACTTTCAAGTACAAAATGGTAATAATAACTTGGATTGAGGCGGAAACACCTATTTTATGGCTATCTATCTAAACATCTTAAAATGGCCTTCTCTGTAATACACTTTCTTTTAAAAGACTTCACTAAATCTATCTTTAAAAGGAAAAACAAAAGGGAGAGGTTGAAAATGCGCGAGCTGCCCTGCACTGTGTGATGCTCCCTCCCCGGGAGACGTGGACGGGGGACGAGGCACCCGCAGACGCCCTTCTGCTCACTCGCTCCTCTGTGCATTCAGCGAGCCACTTGCCACAGATGGAGCCCGTGACGGTGTGGAGGGTTTCCTGGAAAGGCCATCTTCCACCAGGTAGAGGCGAGCGTGCCTAGGACAGGCCACAGGGCTCCACAGAAATACCTCACCCCAGCTTCAGGGTTCTCTCTCCTGAGCCTAGATTTGCCAGGGTCTTGGTGCCACGCAAATGGTTTCAAACTGATCTCTATGGATAAATGCTGATGTTGGTTAAAGAACTGAAAAATGTGCTCAACTGTTTCATCTTTTCTATTTTATTTTTGTAATTTATATTGTACACAACCCAGGAAGTAACTATTTTGGACATGTATTTTTATAAACCAGGTAATTTACTATTATCCTGGAATTTAGACTAGGTTTGTTTCATTTGTTGACTTAGTTTCCAGCCAAGAAGGAAACGACTGTCTCCCCCATGTCCAGGTCTCAGTTTCAAGGGCAGAGTCCAGAGAGCAGACAGAGTTCTGTGAGAGCAGGAGAGCAGTCTGGAAACCCTGGCTGTGCATACCGTGTCAGCCGTGGGCCTGGAGATGGGAGCAGGTGAGACGCAGAGCCCCAGTACTGAGAGGAGGAAGCCCTCTTACAGGGCCCCTTGCCCACCCCAAGTCCGTGTCTGAAACACGGAGCGGGTGCTGCTTCAACCCGCATTTAATGCTGTGTAAGTAGCGATAACCACGTACGAGTCTGTCTGGTTGATTTCTAATGTGACTCCTCTGGTATTTCCTCCTGGTAATAAATACAAGTGTGACCTTTCAGATTGCATATCTCAAAAGTAACATTGCTAATGTTTTATAATAAAATATATTATGTGTGTTTTGGTTGGTGAAAATAATACAGACTACATTTTAAAAGATAAATGTATAGCATGTCCAATTTTTGTGTGTTTTTACATGGCAATTAGATATTTCTCCATCACCATCTCTGATGACAGATTTAACATGAACACAGATAGATGATAAAGTGTCATGCTTTTGATCAATATTAGCAAGAGGTTTCACACTGAGAGGCAGAAACATTGCTGTTTGTTCTCTTATTGAAAATATTCTGCAAATTCCTAAATCTGTGTTTTCAAAACTAATGGCAGTAAGTTTTGACTTCACCAATATGCAGGTCCAATTCAGAGTATTGGTGTAATTGTTTTCTCATGAGGCGTGGCCAGGAGAATTCACCAGTCAGCCTTAGTCATGTTACTTAACGTCATTCATGGTGCTTGTGGCTTTGTGCCTGGGATGAGCCAAGTTCATCTGACGTCTGTGTTTGAAGCACTTCAGGCTGTTTAGTACTTAATACCACAGGAGTGGAAGGACA)$ MASLQRSRVLRCCSCRLFQAHQVKKSVKWTCKACGEKQSFLr|DLKPSNIVVKSDCTLKILDFGLARTACTNFMMTPYVVTRYYRAPEVILGMGYKENVDIWSVGCIMGELVKGCVIFQGTDHIDQWNKVIEQLGTPSAEFMKKLQPTVRNYVENRPKYPGIKFEELFPDWIFPSESERDKIKTSQARDLLSKMLVIDPDKRISVDEALRHPYITVWYDPAEAEAPPPQIYDAQLEEREHAIEEWKELIYKEVMDWEERSKNGVVKDQPSDAAVSSNATPSQSSSINDISSMSTEQTLASDTDSSLDASTGPLEGCR* 11BR075 ENSG00000186153.17 ENSG00000260701.2(93986),ENSG00000261154.1(50022) +/+ ./+ chr16:78164289 chr16:77540784 CDS/splice-site intergenic duplication 2 0 0 46 4 medium out-of-frame . WW_domain(100%),short_chain_dehydrogenase(100%)| . . ENSG00000186153.17 . ENST00000566780.6 . downstream upstream . ^(GCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAA___TCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAG___ATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGA___CCATATAAATAAAAGAACCACCTACTTGGACCCAAGACTGGCGTTTACTGTGGATGATAATCCGACCAAGCCAACCACCCGGCAAAGATACGACGGCAGCACCACTGCCATGGAAATTCTCCAGGGCCGGGATTTC)ACTGGCAAAGTGGTTGTGGTCACTGGAGCTAATTCAGGAATAG___GGTTCGAAACCGCCAAGTCTTTTGCCCTCCATGGTGCACATGTGATCTTGGCCTGCAGGAACATGGCAAGGGCGAGTGAAGCAGTGTCACGCATTTTAGAAGAATGG|GCTTTGGTTGCTAGGATGCATTGTCAAACTCCACCAGAG MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHINKRTTYLDPRLAFTVDDNPTKPTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEW|alvarmhcqtpp 11BR080 ENSG00000118849.10 ENSG00000170417.16 -/- +/- chr3:158697687 chr2:102827057 CDS intron translocation/5'-5' 144 51 2 939 94 high out-of-frame . Latexin(100%)| . . ENSG00000118849.10 ENSG00000170417.16 ENST00000237696.10 . upstream downstream duplicates(31),inconsistently_clipped(1),mismatches(4) ^(GAGCCCGTGTCTGTCGGGTGCCGAGCCAACTTTCCTGCGTCCATGCAGCCCCGCCGGCAACGGCTGCCTGCTCCCTGGTCCGGGCCCAGGGGCCCGCGCCCCACCGCCCCGCTGCTCGCGCTGCTGCTGTTGCTCGCCCCGGTGGCGGCGCCCGCGGGGTCCGGGGACCCCGACGACCCTGGGCAGCCTCAGGATGCTGGGGTCCCGCGCAGGCTCCTGCAGCAGGCGGCGCGCGCGGCGCTTCACTTCTTCAACTTCCGGTCCGGCTCGCCCAGCGCGCTACGAGTGCTGGCCGAGGTGCAGGAGGGCCGCGCGTGG___ATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAG___TCTTTACTTCAGGAAGGTGAGGGACGTTTGGGGAAATGTTCTGCTCGAGTGTTTTTCAAGAATCAGAAACCCAGACCAACCATCAA)TGTAACTTGTACACGGCTCATCGAGAAAAAGAAAAGACAACAAGAGGATTACCTGCTTTACAAGCAAATGAAGCAACTGAAAAACCCCTTGGAAATAGTCAGCATACCTG___ATAATCATGGACATATTGATCCCTCTCTGAGACTCATCTGGGATTTGGCTTTCCTTGGAAGCTCTTACGTGATGTGGGAAATGACAACACAGGTGTCACACTACTACTTGGCACAGCTCACTAGTGTGAGGCAGTGG___AAAACTAATGATGATACAATTGATTTTGATTATACTGTTCTACTTCATGAATTATCAACACAG___GAAATAATTCCCTGTCGCATTCACTTGGTCTGGTACCCTGGCAAACCTCTTAAAGTGAAGTACCACTGTCAAGAGCTACAGACACCAGAAGAAGCCTCCGGAACTGAAGAAGGATCAGCTGTAGTACCAACAGAGCTTAGT|CGTTTCAAAGGGAAGCCACATAAGACAAGGGCAAGTAAAGCTGAGGTGCAGGGGAGCAGTTTTTCATTATCTTGCTGTGTTTTCCTTTTTAAATGTATTAAAGTGTATTCCTCACTTTAAAAAGGCACTAATTGAATTAGGATTTTTTTTTTGATTGGCCAACATTTAGAAACACATCCATGTAACTTG...___GAAGAAACCAGTTGGTATCATGGAGAGAACATGGAGACTAAACACCTGGAAGTTCACCTCCAGTGCTTTTTGGCTGTGTGGCCTTGGGCGAGTTACCTATTCTTTTAGTTTCAGTTGCCTCAACTCTCCAATGGGACTGACACCACCAGACAAAGTAAGAGAAGCTACTGGCATGTAGAAATG MQPRRQRLPAPWSGPRGPRPTAPLLALLLLLAPVAAPAGSGDPDDPGQPQDAGVPRRLLQQAARAALHFFNFRSGSPSALRVLAEVQEGRAWINPKEGCKVHVVFSTERYNPESLLQEGEGRLGKCSARVFFKNQKPRPTINVTCTRLIEKKKRQQEDYLLYKQMKQLKNPLEIVSIPDNHGHIDPSLRLIWDLAFLGSSYVMWEMTTQVSHYYLAQLTSVRQWKTNDDTIDFDYTVLLHELSTQEIIPCRIHLVWYPGKPLKVKYHCQELQTPEEASGTEEGSAVVPTELS|rfkgkphktraskaevqgssfslsccvflfkcikvyssl* 11BR080 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 21 4 0 248 61 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCA)TGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 11BR080 ENSG00000115414.20 ENSG00000138363.15 -/- +/+ chr2:215414837 chr2:215319665 CDS/splice-site CDS/splice-site inversion 21 4 0 1777 193 high out-of-frame . Fibronectin_type_III_domain(100%),Fibronectin_type_II_domain(100%),Fibronectin_type_I_domain(100%)|AICARFT/IMPCHase_bienzyme(100%),MGS-like_domain(100%) . . ENSG00000115414.20 ENSG00000138363.15 ENST00000354785.10 ENST00000236959.14 upstream upstream duplicates(1) ^(GCCCGCGCCGGCTGTGCTGCACAGGGGGAGGAGAGGGAACCCCAGGCGCGAGCGGGAAGAGGGGACCTGCAGCCACAACTTCTCTGGTCCTCTGCATCCCTTCTGTCCCTCCACCCGTCCCCTTCCCCACCCTCTGGCCCCCACCTTCTTGGAGGCGACAACCCCCGGGAGGCATTAGAAGGGATTTTTCCCGCAGGTTGCGAAGGGAAGCAAACTTGGTGGCAACTTGCCTCCCGGTGCGGGCGTCTCTCCCCCACCGTCTCAACATGCTTAGGGGTCCGGGGCCCGGGCTGCTGCTGCTGGCCGTCCAGTGCCTGGGGACAGCGGTGCCCTCCACGGGAGCCTCGAAGAGCAAGAGGCAGGCTCAGCAAATGGTTCAGCCCCAGTCCCCGGTGGCTGTCAGTCAAAGCAAGC___CCGGTTGTTATGACAATGGAAAACACTATCAGATAAATCAACAGTGGGAGCGGACCTACCTAGGCAATGCGTTGGTTTGTACTTGTTATGGAGGAAGCCGAGGTTTTAACTGCGAGAGTAAACCTGAAG___CTGAAGAGACTTGCTTTGACAAGTACACTGGGAACACTTACCGAGTGGGTGACACTTATGAGCGTCCTAAAGACTCCATGATCTGGGACTGTACCTGCATCGGGGCTGGGCGAGGGAGAATAAGCTGTACCATCGCAA___ACCGCTGCCATGAAGGGGGTCAGTCCTACAAGATTGGTGACACCTGGAGGAGACCACATGAGACTGGTGGTTACATGTTAGAGTGTGTGTGTCTTGGTAATGGAAAAGGAGAATGGACCTGCAAGCCCATAG___CTGAGAAGTGTTTTGATCATGCTGCTGGGACTTCCTATGTGGTCGGAGAAACGTGGGAGAAGCCCTACCAAGGCTGGATGATGGTAGATTGTACTTGCCTGGGAGAAGGCAGCGGACGCATCACTTGCACTTCTAGAA___ATAGATGCAACGATCAGGACACAAGGACATCCTATAGAATTGGAGACACCTGGAGCAAGAAGGATAATCGAGGAAACCTGCTCCAGTGCATCTGCACAGGCAACGGCCGAGGAGAGTGGAAGTGTGAGAGGCACACCTCTGTGCAGACCACATCGAGCG___GATCTGGCCCCTTCACCGATGTTCGTGCAGCTGTTTACCAACCGCAGCCTCACCCCCAGCCTCCTCCCTATGGCCACTGTGTCACAGACAGTGGTGTGGTCTACTCTGTGGGGATGCAGTGGCTGAAGACACAAGGAAATAAGCAAATGCTTTGCACGTGCCTGGGCAACGGAGTCAGCTGCCAAGAGACAG___CTGTAACCCAGACTTACGGTGGCAACTCAAATGGAGAGCCATGTGTCTTACCATTCACCTACAATGGCAGGACGTTCTACTCCTGCACCACAGAAGGGCGACAGGACGGACATCTTTGGTGCAGCACAACTTCGAATTATGAGCAGGACCAGAAATACTCTTTCTGCACAGACCACACTG___TTTTGGTTCAGACTCGAGGAGGAAATTCCAATGGTGCCTTGTGCCACTTCCCCTTCCTATACAACAACCACAATTACACTGATTGCACTTCTGAGGGCAGAAGAGACAACATGAAGTGGTGTGGGACCACACAGAACTATGATGCCGACCAGAAGTTTGGGTTCTGCCCCATGGCTG___CCCACGAGGAAATCTGCACAACCAATGAAGGGGTCATGTACCGCATTGGAGATCAGTGGGATAAGCAGCATGACATGGGTCACATGATGAGGTGCACGTGTGTTGGGAATGGTCGTGGGGAATGGACATGCATTGCCTACTCGCAGCTTCGAG___ATCAGTGCATTGTTGATGACATCACTTACAATGTGAACGACACATTCCACAAGCGTCATGAAGAGGGGCACATGCTGAACTGTACATGCTTCGGTCAGGGTCGGGGCAGGTGGAAGTGTGATCCCGTCG___ACCAA)TGCCAGGATTCAGAGACTGGGACGTTTTATCAAATTGGAGATTCATGGGAGAAGTATGTGCATGGTGTCAGATACCAGTGCTACTGCTATGGCCGTGGCATTGGGGAGTGGCATTGCCAACCTTTACAGACCTATCCAA___GCTCAAGTGGTCCTGTCGAAGTATTTATCACTGAGACTCCGAGTCAGCCCAACTCCCACCCCATCCAGTGGAATGCACCACAGCCATCTCACATTTCCAAGTACATTCTCAGGTGGAGACCT|GAATCCTAGCTCGTAATATTCCAGAAGATAATGCTGACATGGCCAGACTTGATTTCAATCTTATAAG(___AGTTGTTGCCTGCAATCTCTATCCCTTTGTAAAGACAGTGGCTTCTCCAGGTGTAACTGTTGAGGAGGCTGTGGAGCAAATTGACATTG___GTGGAGTAACCTTACTGAGAGCTGCAGCCAAAAACCACGCTCGAGTGACAGTGGTGTGTGAACCAGAGGACTATGTGGTGGTGTCCACGGAGATGCAGAGCTCCGAGAGTAAGGACACCTCCTTGGAGACTAGACGCCAGTTAGCCTTGAAG___GCATTCACTCATACGGCACAATATGATGAAGCAATTTCAGATTATTTCAGGAAACAGTACAGCAAAGGCGTATCTCAGATGCCCTTGAGATATGGAATGAACCCACATCAGACCCCTGCCCAGCTGTACACACTGCAGCCCAAGCTTCCCATCACAG___TTCTAAATGGAGCCCCTGGATTTATAAACTTGTGCGATGCTTTGAACGCCTGGCAGCTGGTGAAGGAACTCAAGGAGGCTTTAGGTATTCCAGCCGCTGCCTCTTTCAAACATGTCAGCCCAGCAG___GTGCTGCTGTTGGAATTCCACTCAGTGAAGATGAGGCCAAAGTCTGCATGGTTTATGATCTCTATAAAACCCTCACACCCATCTCAGCGGCATATGCAAGAGCAAGAG___GGGCTGATAGGATGTCTTCATTTGGTGATTTTGTTGCATTGTCCGATGTTTGTGATGTACCAACTGCAAAAATTATTTCCAGAGAA___GTATCTGATGGTATAATTGCCCCAGGATATGAAGAAGAAGCCTTGACAATACTTTCCAAAAAGAAAAATGGAAACTATTGTGTCCTTCAG___ATGGACCAATCTTACAAACCAGATGAAAATGAAGTTCGAACTCTCTTTGGTCTTCATTTAAGCCAGAAGAGAAATAATGGTGTCGTCGACAAGTCATTATTTAGCAATGTTGTTACCAAAAATAAAGAT___TTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAG___GTTATCGGCATTGGAGCAGGACAGCAGTCTCGTATACACTGCACTCGCCTTGCAGGAGATAAGGCAAACTATTGGTGGCTTAGACACCATCCACAAGTGCTTTCGATGAAGTTTAAAACAGGAGTGAAGAGAGCAGAAATCTCCAATGCCATCGATCAATATGTGACTGGAACCATTGGCGAG___GATGAAGATTTGATAAAGTGGAAGGCACTGTTTGAGGAAGTCCCTGAGTTACTCACTGAGGCAGAGAAGAAGGAATGGGTTGAGAAACTGACTGAAGTTTCTATCAGCTCTGATGCCTTCTTCCCTTTCCGAGATAACGTAGACAGAGCTAAAAGG___AGTGGTGTGGCGTACATTGCGGCTCCCTCCGGTTCTGCTGCTGACAAAGTTGTGATTGAGGCCTGCGACGAACTGGGAATCATCCTCGCTCATACGAACCTTCGGCTCTTCCACCACTGATTTTACCACACACTGTTTTTTGGCTTGCTTATGTGTAGGTGAACAGTCACGCCTGAAACTTTGAGGATAACTTTTTAAAAAAATAAAACAGTATCTCTTAATCACTGGA)$ MLRGPGPGLLLLAVQCLGTAVPSTGASKSKRQAQQMVQPQSPVAVSQSKPGCYDNGKHYQINQQWERTYLGNALVCTCYGGSRGFNCESKPEAEETCFDKYTGNTYRVGDTYERPKDSMIWDCTCIGAGRGRISCTIANRCHEGGQSYKIGDTWRRPHETGGYMLECVCLGNGKGEWTCKPIAEKCFDHAAGTSYVVGETWEKPYQGWMMVDCTCLGEGSGRITCTSRNRCNDQDTRTSYRIGDTWSKKDNRGNLLQCICTGNGRGEWKCERHTSVQTTSSGSGPFTDVRAAVYQPQPHPQPPPYGHCVTDSGVVYSVGMQWLKTQGNKQMLCTCLGNGVSCQETAVTQTYGGNSNGEPCVLPFTYNGRTFYSCTTEGRQDGHLWCSTTSNYEQDQKYSFCTDHTVLVQTRGGNSNGALCHFPFLYNNHNYTDCTSEGRRDNMKWCGTTQNYDADQKFGFCPMAAHEEICTTNEGVMYRIGDQWDKQHDMGHMMRCTCVGNGRGEWTCIAYSQLRDQCIVDDITYNVNDTFHKRHEEGHMLNCTCFGQGRGRWKCDPVDQCQDSETGTFYQIGDSWEKYVHGVRYQCYCYGRGIGEWHCQPLQTYPSSSGPVEVFITETPSQPNSHPIQWNAPQPSHISKYILRWRP|es* 11BR080 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 12 11 1 29 27 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(1) CCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGA(TGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 11BR080 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 4 9 0 46 17 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGT)CTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 11BR080 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 1 10 0 12 128 high . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream . ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCG)CTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGC(ACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 11BR080 ENSG00000104447.12 ENSG00000188676.13 -/- +/+ chr8:115587001 chr8:39979067 CDS/splice-site CDS/splice-site inversion 0 5 1 525 78 high in-frame . . . . ENSG00000104447.12 ENSG00000188676.13 ENST00000395715.7 ENST00000502986.2 upstream upstream . ^(AATAGTGTTGGTGTCTTGAAACTGACGTAATGCGCGGAGACTGAGGTCCTGACAAGCGATAACATTTCTGATAAAGACCCGATCTTACTGCAATCTCTAGCGTCCTCTTTTTTGGTGCTGCTGGTTTCTCCAGACCTCGCGTCCTCTCGATTGCTCTCTCGCCTTCCTATTTCTTTTTTTTTTTTTTAAACAAAAAACAACACCCCCTCCCCTCTCCCACCCGGCACCGGGCACATCCTTGCTCTATTTCCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTTTTAATAAGGGTGGGGGAGGGAAAGGGGGGGGAGGCAGGAAAGACCTTTTTCTCTCCCCCCCGCAATAATCCAAGATCAACTCTGCAAACAACAGAAGACGGTTCATGGCTTTGGCCGCCGCGCCACCATCTTTCGGGCTGCCGAGGGTGTTCTTGACGATTAATCAACAG___ATGTACAGATCAGCTCTCAAAATGTCTTCTGTGTCTTCTGAGCGTCTTCTAAGACAATTGCATTAGCCTCCTGCTAGTTGACTAATAGAATTAATAATTGTAAAAAGCACTCTAAAGCCACATGCCTTATGAAGTCAATGCTGGGTATGATTTTACAA___ATATGGTCCGGAAAAAGAACCCCCCTCTGAGAAACGTTGCAAGTGAAGGCGAGGGCCAGATCCTGGAGCCTATAGGTACAGAAAGCAAGGTATCTGGAAAGAACAAAGAATTTTCTGCAGATCAGATGTCAGAAAATACGGATCAGAGTGATGCTGCAGAACTAAATCATAAGGAGGAACATAGCTTGCATGTTCAAGATCCATCTTCTAGCAGTAAGAAGGACTTGAAAAGCGCAGTTCTGAGTGAGAAGGCTGGCTTCAATTATGAAAGCCCCAGTAAGGGAGGAAACTTTCCCTCCTTTCCGCATGATGAGGTGACAGACAGAAATATGTTGGCTTTCTCATCTCCAGCTGCTGGGGGAGTCTGTGAGCCCTTGAAGTCTCCGCAAAGAGCAGAGGCAGATGACCCTCAAGATATGGCCTGCACCCCCTCAGGGGACTCACTGGAGACAAAGGAAGATCAGAAGATGTCACCAAAGGCTACAGAGGAAACAGGGCAAGCACAGAGTGGTCAAGCCAATTGTCAAGGTTTGAGCCCAGTTTCAGTGGCCTCAAAAAACCCACAAGTGCCTTCAGATGGGGGTGTAAGACTGAATAAATCCAAAACTGACTTACTGGTGAATGACAACCCAGACCCGGCACCTCTGTCTCCAGAGCTTCAGGACTTTAAATGCAATATCTGTGGATATGGTTACTACGGCAACGACCCCACAGATCTGATTAAGCACTTCCGAAAGTATCACTTAGGACTGCATAACCGCACCAGGCAAGATGCTGAGCTGGACAGCAAAATCTTGGCCCTTCATAACATGGTGCAGTTCAGCCATTCCAAAGACTTCCAGAAGGTCAACCGTTCTGTGTTTTCTGGTGTGCTGCAGGACATCAATTCTTCAAGGCCTGTTTTACTAAATGGGACCTATGATGTGCAG___GTGACTTCAGGTGGAACATTCATTGGCATTGGACGGAAAACACCAGATTGCCAAGGGAACACCAAGTATTTCCGCTGTAAATTCTGCAATTTCACTTATATGGGCAACTCATCCACCGAATTAGAACAACATTTTCTTCAGACTCACCCAAACAAAATAAAAGCTTCTCTCCCCTCCTCTGAGGTTGCAAAACCTTCAGAGAAAAACTCTAACAAGTCCATCCCTGCACTTCAATCCAGTGATTCTGGAGACTTGGGAAAATGGCAGGACAAGATAACAGTCAAAGCAGGAGATGACACTCCTGTTGGGTACTCAGTGCCCATAAAGCCCCTCGATTCCTCTAGACAAAATGGTACAGAGGCCACCAGTTACTACTGGTGTAAATTTTGTAGTTTCAGCTGTGAGTCATCTAGCTCACTTAAACTGCTAGAACATTATGGCAAGCAGCACGGAGCAGTGCAGTCAGGCGGCCTTAATCCAGAGTTAAATGATAAGCTTTCCAGGGGCTCTGTCATTAATCAGAATGATCTAGCCAAAAGTTCAGAAGGAGAGACAATGACCAAGACAGACAAGAGCTCGAGTGGGGCTAAAAAGAAGGACTTCTCCAGCAAGGGAGCCGAGGATAATATGGTAACGAGCTATAATTGTCAGTTCTGTGACTTCCGATATTCCAAAAGCCATGGCCCTGATGTAATTGTAGTGGGGCCACTTCTCCGTCATTATCAACAGCTCCATAACATTCACAAGTGTACCATTAAACACTGTCCATTCTGTCCCAGAGGACTTTGCAGCCCAGAAAAGCACCTTGGAGAAATTACTTATCCGTTTGCTTGTAGAAAAAGTAATTGTTCCCACTGTGCACTCTTGCTTCTGCACTTGTCTCCTGGGGCGGCTGGAAGCTCGCGAGTCAAACATCAGTGCCATCAGTGTTCATTCACCACCCCTGACGTAGATGTACTCCTCTTTCACTATGAAAGTGTGCATGAGTCCCAAGCATCGGATGTCAAACAAGAAGCAAATCACCTGCAAGGATCGGATGGGCAGCAGTCTGTCAAGGAAAGCAAAGAACACTCATGTACCAAATGTGATTTTATTACCCAAGTGGAAGAAGAGATTTCCCGACACTACAG___GAGAGCACACAGCTGCTACAAATGCCGTCAGTGCAGTTTTACAGCTGCCGATACTCAGTCACTACTGGAGCACTTCAACACTGTTCACTGCCAGGAACAGGACATCACTACAGCCAACGGCGAAGAGGACGGTCATGCCATATCCACCATCAAAGAGGAGCCCAAAATTGACTTCAGGGTCTACAATCTGCTAACTCCAGACTCTAAAATGGGAGAGCCAGTTTCTGAGAGTGTGGTGAAGAGAGAGAAGCTGGAAGAGAAGGACGGGCTCAAAGAGAAAGTTTGGACCGAGAGTTCCAGTGATGACCTTCGCAATGTGACTTGGAGAGGGGCAGACATCCTGCGGGGGAGTCCGTCATACACCCAAGCAAGCCTGGGGCTGCTGACGCCTGTGTCTGGCACCCAAGAGCAGACAAAGACTCTAAGGGATAGTCCCAATGTGGAGGCCGCCCA)TCTGGCGCGACCTATTTATGGCTTGGCTGTGGAAACCAAGGGATTCCTGCAGGGGGCGCCAGCTGGCGGAGAGAAGTCTGGGGCCCTCCCCCAGCAGTATCCTGCATCGGGAGAAAACAAGTCCAAGGATGAATCCCAGTCCCTGTTACGG|ATGCCCCTGCTGAGCTGCCAGTTCCTGAAGGGTCACCGGGAGCAGCGCCTGGCCCACCTGGTCCTGAGCTTCCTCACCATGGGTTATGTCTGGCAGGAAGGAGAGGCGCAGCCTGCAGAG___GTCCTGCCAAGGAATCTTGCCCTTCCATTTGTCGAAGTCTCCAGGAACTTGGGG(CTCCCTCCTATCCTGGTCCACTCAGACTTGGTGCTGACGAACTGGACCAAAAAAGATCCAGACGG___ATTCCTGGAAATTGG___GAACCTGGAGACCATCATCTCATTTCCTGGGGGAGAGAGCCTGCATGGTTTTATACTGGTGACTGCTTTGGTAGAGAAAGAAGCAGTGCCTGGGATAAAG___GCTCTTGTTCAGGCCACGAATGCTATCTTGCAGCCCAACCAGGAGGCCCTGCTCCAAGCCCTGCAGCGACTGAGACTGTCTATTCAGGACATCACCAAAACCTTAGGACAGATGCATG___ATTATGTAGATCCAGACATATTTTATGCAGGCATCCGGATCTTTCTCTCTGG___ATGGAAAGACAACCCAGCAATGCCTGCAGGGCTGATGTATGAAGGAGTTTCCCAAGAGCCCCTGAAATACTCCGGCGGGAGTGCAGCTCAGAGCACAGTGCTTCATGCCTTTGATGAGTTCTTAGGCATTCGTCATAGCAAGGAAAGTG___GTGACTTTCTGTACAGAATGAGGGATTACATGCCTCCTTCCCATAAGGCCTTCATAGAAGACATCCACTCAGCACCTTCCCTGAGGGACTACATCCTGTCATCTGGACAGGACCACTTGCTGACAGCTTATAACCAGTGTGTGCAGGCCCTGGCAGAGCTGCGGAGCTATCACATCACCATGGTCACCAAATACCTCATCACAGCTGCAGCCAAGGCAAAGCATGGGAAGCCAAACCATCTCCCAGGGCCTCCTCAGGCTTTAAAAGACAGGGGCACAGGTGGAACCGCAGTTATGAGCTTTCTTAAGAGTGTCAGGGATAAGACCTTGGAGTCAATCCTTCACCCACGTGGTTAGGAGGCTGCCCTCTCCCCAGCAATGCAGAGCCCCCATGGAGGGCAGGTGGGCCTGGAGAATGAGGGTCAGGGTTCTGCCTGGGATCATCCAGGAAGGATCTCAGCCCTATTCATGTTTCTGCTCTACAGAGCACTATATTCTCCTTGTTGAGAGCTGTTGGCTTCACAAAGGAGAGTTGATGTGGCCAAGCCTTTCCCTCCCTACCTGATCACTGCTTAACGGCATGTATAATGGATACTTCCTCATGCAGAACCCCCAGAGGAGTGACTGTATGCCATTCTCTTTGCCAAGTAATAGAAAACCAATCTAAATGTCAAAAATCAGATAAAATTGCCTGGGGATACATTACTTGTTGATTTTCTTAAAAAACAAATTCACTTAACAATTCATTAAGTTCATACTGAGCACTGCCTCCAAGATTAAAACCAGGATTTCTGTGGTCCCAGACCAGCCCTCTTCTCCCTGAATGTGTTGAGTTGGTGGCAGGAGGTTGGAAATGCTCCAGTGGAGATGGGAAGATAGAGGATGCTGACAATAAGGACTTGGAAGTCACTAGTGTGAAAATGAGCAGTTAATGATATGGGAACGGATGAGACTTTCCACGTGGTACCTAGATTTGCAAATTCTATTGTAATGCCTTTATTTTTAGAAGAATTATTCTCTCTTCTTACTCTGAAAATCTGTATTTGTAAAATGAATGAATGGATCCTATATAAGTAAATAAGAAAACTGGGAATAAGTAGTAAATCAATGTGTTTAGTGTGCAAATAAATGTAAATGCTTTTATTG)$ MPYEVNAGYDFTNMVRKKNPPLRNVASEGEGQILEPIGTESKVSGKNKEFSADQMSENTDQSDAAELNHKEEHSLHVQDPSSSSKKDLKSAVLSEKAGFNYESPSKGGNFPSFPHDEVTDRNMLAFSSPAAGGVCEPLKSPQRAEADDPQDMACTPSGDSLETKEDQKMSPKATEETGQAQSGQANCQGLSPVSVASKNPQVPSDGGVRLNKSKTDLLVNDNPDPAPLSPELQDFKCNICGYGYYGNDPTDLIKHFRKYHLGLHNRTRQDAELDSKILALHNMVQFSHSKDFQKVNRSVFSGVLQDINSSRPVLLNGTYDVQVTSGGTFIGIGRKTPDCQGNTKYFRCKFCNFTYMGNSSTELEQHFLQTHPNKIKASLPSSEVAKPSEKNSNKSIPALQSSDSGDLGKWQDKITVKAGDDTPVGYSVPIKPLDSSRQNGTEATSYYWCKFCSFSCESSSSLKLLEHYGKQHGAVQSGGLNPELNDKLSRGSVINQNDLAKSSEGETMTKTDKSSSGAKKKDFSSKGAEDNMVTSYNCQFCDFRYSKSHGPDVIVVGPLLRHYQQLHNIHKCTIKHCPFCPRGLCSPEKHLGEITYPFACRKSNCSHCALLLLHLSPGAAGSSRVKHQCHQCSFTTPDVDVLLFHYESVHESQASDVKQEANHLQGSDGQQSVKESKEHSCTKCDFITQVEEEISRHYRRAHSCYKCRQCSFTAADTQSLLEHFNTVHCQEQDITTANGEEDGHAISTIKEEPKIDFRVYNLLTPDSKMGEPVSESVVKREKLEEKDGLKEKVWTESSSDDLRNVTWRGADILRGSPSYTQASLGLLTPVSGTQEQTKTLRDSPNVEAAHLARPIYGLAVETKGFLQGAPAGGEKSGALPQQYPASGENKSKDESQSLLR|MPLLSCQFLKGHREQRLAHLVLSFLTMGYVWQEGEAQPAEVLPRNLALPFVEVSRNLGLPPILVHSDLVLTNWTKKDPDGFLEIGNLETIISFPGGESLHGFILVTALVEKEAVPGIKALVQATNAILQPNQEALLQALQRLRLSIQDITKTLGQMHDYVDPDIFYAGIRIFLSGWKDNPAMPAGLMYEGVSQEPLKYSGGSAAQSTVLHAFDEFLGIRHSKESGDFLYRMRDYMPPSHKAFIEDIHSAPSLRDYILSSGQDHLLTAYNQCVQALAELRSYHITMVTKYLITAAAKAKHGKPNHLPGPPQALKDRGTGGTAVMSFLKSVRDKTLESILHPRG* 11BR080 ENSG00000104447.12 ENSG00000188676.13 -/- +/+ chr8:115587001 chr8:39982652 CDS/splice-site CDS/splice-site inversion 2 3 0 525 158 high in-frame . . . . ENSG00000104447.12 ENSG00000188676.13 ENST00000395715.7 ENST00000502986.2 upstream upstream mismatches(1) ^(AATAGTGTTGGTGTCTTGAAACTGACGTAATGCGCGGAGACTGAGGTCCTGACAAGCGATAACATTTCTGATAAAGACCCGATCTTACTGCAATCTCTAGCGTCCTCTTTTTTGGTGCTGCTGGTTTCTCCAGACCTCGCGTCCTCTCGATTGCTCTCTCGCCTTCCTATTTCTTTTTTTTTTTTTTAAACAAAAAACAACACCCCCTCCCCTCTCCCACCCGGCACCGGGCACATCCTTGCTCTATTTCCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTTTTAATAAGGGTGGGGGAGGGAAAGGGGGGGGAGGCAGGAAAGACCTTTTTCTCTCCCCCCCGCAATAATCCAAGATCAACTCTGCAAACAACAGAAGACGGTTCATGGCTTTGGCCGCCGCGCCACCATCTTTCGGGCTGCCGAGGGTGTTCTTGACGATTAATCAACAG___ATGTACAGATCAGCTCTCAAAATGTCTTCTGTGTCTTCTGAGCGTCTTCTAAGACAATTGCATTAGCCTCCTGCTAGTTGACTAATAGAATTAATAATTGTAAAAAGCACTCTAAAGCCACATGCCTTATGAAGTCAATGCTGGGTATGATTTTACAA___ATATGGTCCGGAAAAAGAACCCCCCTCTGAGAAACGTTGCAAGTGAAGGCGAGGGCCAGATCCTGGAGCCTATAGGTACAGAAAGCAAGGTATCTGGAAAGAACAAAGAATTTTCTGCAGATCAGATGTCAGAAAATACGGATCAGAGTGATGCTGCAGAACTAAATCATAAGGAGGAACATAGCTTGCATGTTCAAGATCCATCTTCTAGCAGTAAGAAGGACTTGAAAAGCGCAGTTCTGAGTGAGAAGGCTGGCTTCAATTATGAAAGCCCCAGTAAGGGAGGAAACTTTCCCTCCTTTCCGCATGATGAGGTGACAGACAGAAATATGTTGGCTTTCTCATCTCCAGCTGCTGGGGGAGTCTGTGAGCCCTTGAAGTCTCCGCAAAGAGCAGAGGCAGATGACCCTCAAGATATGGCCTGCACCCCCTCAGGGGACTCACTGGAGACAAAGGAAGATCAGAAGATGTCACCAAAGGCTACAGAGGAAACAGGGCAAGCACAGAGTGGTCAAGCCAATTGTCAAGGTTTGAGCCCAGTTTCAGTGGCCTCAAAAAACCCACAAGTGCCTTCAGATGGGGGTGTAAGACTGAATAAATCCAAAACTGACTTACTGGTGAATGACAACCCAGACCCGGCACCTCTGTCTCCAGAGCTTCAGGACTTTAAATGCAATATCTGTGGATATGGTTACTACGGCAACGACCCCACAGATCTGATTAAGCACTTCCGAAAGTATCACTTAGGACTGCATAACCGCACCAGGCAAGATGCTGAGCTGGACAGCAAAATCTTGGCCCTTCATAACATGGTGCAGTTCAGCCATTCCAAAGACTTCCAGAAGGTCAACCGTTCTGTGTTTTCTGGTGTGCTGCAGGACATCAATTCTTCAAGGCCTGTTTTACTAAATGGGACCTATGATGTGCAG___GTGACTTCAGGTGGAACATTCATTGGCATTGGACGGAAAACACCAGATTGCCAAGGGAACACCAAGTATTTCCGCTGTAAATTCTGCAATTTCACTTATATGGGCAACTCATCCACCGAATTAGAACAACATTTTCTTCAGACTCACCCAAACAAAATAAAAGCTTCTCTCCCCTCCTCTGAGGTTGCAAAACCTTCAGAGAAAAACTCTAACAAGTCCATCCCTGCACTTCAATCCAGTGATTCTGGAGACTTGGGAAAATGGCAGGACAAGATAACAGTCAAAGCAGGAGATGACACTCCTGTTGGGTACTCAGTGCCCATAAAGCCCCTCGATTCCTCTAGACAAAATGGTACAGAGGCCACCAGTTACTACTGGTGTAAATTTTGTAGTTTCAGCTGTGAGTCATCTAGCTCACTTAAACTGCTAGAACATTATGGCAAGCAGCACGGAGCAGTGCAGTCAGGCGGCCTTAATCCAGAGTTAAATGATAAGCTTTCCAGGGGCTCTGTCATTAATCAGAATGATCTAGCCAAAAGTTCAGAAGGAGAGACAATGACCAAGACAGACAAGAGCTCGAGTGGGGCTAAAAAGAAGGACTTCTCCAGCAAGGGAGCCGAGGATAATATGGTAACGAGCTATAATTGTCAGTTCTGTGACTTCCGATATTCCAAAAGCCATGGCCCTGATGTAATTGTAGTGGGGCCACTTCTCCGTCATTATCAACAGCTCCATAACATTCACAAGTGTACCATTAAACACTGTCCATTCTGTCCCAGAGGACTTTGCAGCCCAGAAAAGCACCTTGGAGAAATTACTTATCCGTTTGCTTGTAGAAAAAGTAATTGTTCCCACTGTGCACTCTTGCTTCTGCACTTGTCTCCTGGGGCGGCTGGAAGCTCGCGAGTCAAACATCAGTGCCATCAGTGTTCATTCACCACCCCTGACGTAGATGTACTCCTCTTTCACTATGAAAGTGTGCATGAGTCCCAAGCATCGGATGTCAAACAAGAAGCAAATCACCTGCAAGGATCGGATGGGCAGCAGTCTGTCAAGGAAAGCAAAGAACACTCATGTACCAAATGTGATTTTATTACCCAAGTGGAAGAAGAGATTTCCCGACACTACAG___GAGAGCACACAGCTGCTACAAATGCCGTCAGTGCAGTTTTACAGCTGCCGATACTCAGTCACTACTGGAGCACTTCAACACTGTTCACTGCCAGGAACAGGACATCACTACAGCCAACGGCGAAGAGGACGGTCATGCCATATCCACCATCAAAGAGGAGCCCAAAATTGACTTCAGGGTCTACAATCTGCTAACTCCAGACTCTAAAATGGGAGAGCCAGTTTCTGAGAGTGTGGTGAAGAGAGAGAAGCTGGAAGAGAAGGACGGGCTCAAAGAGAAAGTTTGGACCGAGAGTTCCAGTGATGACCTTCGCAATGTGACTTGGAGAGGGGCAGA)CATCCTGCGGGGGAGTCCGTCgTACACCCAAGCAAGCCTGGGGCTGCTGACGCCTGTGTCTGGCACCCAAGAGCAGACAAAGACTCTAAGGGATAGTCCCAATGTGGAGGCCGCCCATCTGGCGCGACCTATTTATGGCTTGGCTGTGGAcACCAAGGGATTCCTGCAGGGGGCGCCAGCTGGCGGAGAGAAGTCTGGGGCCCTCCCCCAGCAGTATCCTGCATCGGGAGAAAACAAGTCCAAGGATGAATCCCAGTCCCTGTTACGG|GTCCTGCCAAGGAATCTTGCCCTTCCATTTGTCGAAGTCTCCAGGAACTTGGGGCTCCCTCCTATCCTGGTCCACTCAGACTTGGTGCTGACGAACTGGACCAAAAAAGATCCAGACGG___ATTCCTGGAAATTGG(___GAACCTGGAGACCATCATCTCATTTCCTGGGGGAGAGAGCCTGCATGGTTTTATACTGGTGACTGCTTTGGTAGAGAAAGAAGCAGTGCCTGGGATAAAG___GCTCTTGTTCAGGCCACGAATGCTATCTTGCAGCCCAACCAGGAGGCCCTGCTCCAAGCCCTGCAGCGACTGAGACTGTCTATTCAGGACATCACCAAAACCTTAGGACAGATGCATG___ATTATGTAGATCCAGACATATTTTATGCAGGCATCCGGATCTTTCTCTCTGG___ATGGAAAGACAACCCAGCAATGCCTGCAGGGCTGATGTATGAAGGAGTTTCCCAAGAGCCCCTGAAATACTCCGGCGGGAGTGCAGCTCAGAGCACAGTGCTTCATGCCTTTGATGAGTTCTTAGGCATTCGTCATAGCAAGGAAAGTG___GTGACTTTCTGTACAGAATGAGGGATTACATGCCTCCTTCCCATAAGGCCTTCATAGAAGACATCCACTCAGCACCTTCCCTGAGGGACTACATCCTGTCATCTGGACAGGACCACTTGCTGACAGCTTATAACCAGTGTGTGCAGGCCCTGGCAGAGCTGCGGAGCTATCACATCACCATGGTCACCAAATACCTCATCACAGCTGCAGCCAAGGCAAAGCATGGGAAGCCAAACCATCTCCCAGGGCCTCCTCAGGCTTTAAAAGACAGGGGCACAGGTGGAACCGCAGTTATGAGCTTTCTTAAGAGTGTCAGGGATAAGACCTTGGAGTCAATCCTTCACCCACGTGGTTAGGAGGCTGCCCTCTCCCCAGCAATGCAGAGCCCCCATGGAGGGCAGGTGGGCCTGGAGAATGAGGGTCAGGGTTCTGCCTGGGATCATCCAGGAAGGATCTCAGCCCTATTCATGTTTCTGCTCTACAGAGCACTATATTCTCCTTGTTGAGAGCTGTTGGCTTCACAAAGGAGAGTTGATGTGGCCAAGCCTTTCCCTCCCTACCTGATCACTGCTTAACGGCATGTATAATGGATACTTCCTCATGCAGAACCCCCAGAGGAGTGACTGTATGCCATTCTCTTTGCCAAGTAATAGAAAACCAATCTAAATGTCAAAAATCAGATAAAATTGCCTGGGGATACATTACTTGTTGATTTTCTTAAAAAACAAATTCACTTAACAATTCATTAAGTTCATACTGAGCACTGCCTCCAAGATTAAAACCAGGATTTCTGTGGTCCCAGACCAGCCCTCTTCTCCCTGAATGTGTTGAGTTGGTGGCAGGAGGTTGGAAATGCTCCAGTGGAGATGGGAAGATAGAGGATGCTGACAATAAGGACTTGGAAGTCACTAGTGTGAAAATGAGCAGTTAATGATATGGGAACGGATGAGACTTTCCACGTGGTACCTAGATTTGCAAATTCTATTGTAATGCCTTTATTTTTAGAAGAATTATTCTCTCTTCTTACTCTGAAAATCTGTATTTGTAAAATGAATGAATGGATCCTATATAAGTAAATAAGAAAACTGGGAATAAGTAGTAAATCAATGTGTTTAGTGTGCAAATAAATGTAAATGCTTTTATTG)$ MPYEVNAGYDFTNMVRKKNPPLRNVASEGEGQILEPIGTESKVSGKNKEFSADQMSENTDQSDAAELNHKEEHSLHVQDPSSSSKKDLKSAVLSEKAGFNYESPSKGGNFPSFPHDEVTDRNMLAFSSPAAGGVCEPLKSPQRAEADDPQDMACTPSGDSLETKEDQKMSPKATEETGQAQSGQANCQGLSPVSVASKNPQVPSDGGVRLNKSKTDLLVNDNPDPAPLSPELQDFKCNICGYGYYGNDPTDLIKHFRKYHLGLHNRTRQDAELDSKILALHNMVQFSHSKDFQKVNRSVFSGVLQDINSSRPVLLNGTYDVQVTSGGTFIGIGRKTPDCQGNTKYFRCKFCNFTYMGNSSTELEQHFLQTHPNKIKASLPSSEVAKPSEKNSNKSIPALQSSDSGDLGKWQDKITVKAGDDTPVGYSVPIKPLDSSRQNGTEATSYYWCKFCSFSCESSSSLKLLEHYGKQHGAVQSGGLNPELNDKLSRGSVINQNDLAKSSEGETMTKTDKSSSGAKKKDFSSKGAEDNMVTSYNCQFCDFRYSKSHGPDVIVVGPLLRHYQQLHNIHKCTIKHCPFCPRGLCSPEKHLGEITYPFACRKSNCSHCALLLLHLSPGAAGSSRVKHQCHQCSFTTPDVDVLLFHYESVHESQASDVKQEANHLQGSDGQQSVKESKEHSCTKCDFITQVEEEISRHYRRAHSCYKCRQCSFTAADTQSLLEHFNTVHCQEQDITTANGEEDGHAISTIKEEPKIDFRVYNLLTPDSKMGEPVSESVVKREKLEEKDGLKEKVWTESSSDDLRNVTWRGADILRGSPSYTQASLGLLTPVSGTQEQTKTLRDSPNVEAAHLARPIYGLAVdTKGFLQGAPAGGEKSGALPQQYPASGENKSKDESQSLLR|VLPRNLALPFVEVSRNLGLPPILVHSDLVLTNWTKKDPDGFLEIGNLETIISFPGGESLHGFILVTALVEKEAVPGIKALVQATNAILQPNQEALLQALQRLRLSIQDITKTLGQMHDYVDPDIFYAGIRIFLSGWKDNPAMPAGLMYEGVSQEPLKYSGGSAAQSTVLHAFDEFLGIRHSKESGDFLYRMRDYMPPSHKAFIEDIHSAPSLRDYILSSGQDHLLTAYNQCVQALAELRSYHITMVTKYLITAAAKAKHGKPNHLPGPPQALKDRGTGGTAVMSFLKSVRDKTLESILHPRG* 11BR080 ENSG00000064012.22 ENSG00000224063.6 +/+ +/+ chr2:201234112 chr2:187191835 5'UTR/splice-site exon/splice-site duplication 1 3 0 19 3 high . . . . . ENSG00000064012.22 ENSG00000224063.6 ENST00000264275.9 ENST00000412276.6 downstream upstream . ^(TTTCACCTTGTGTCTGAGCTGGTCTGAAGGCTGGTTGTTCAGACTGAGCTTCCTGCCTGCCTGTACCCCGCCAACAGCTTCAGAAGAAGGTGACTGGTGGCTGCCTGAGGAATACCAGT)GGGCAAGAGAATTAGCATTTCTGGAGCATCTGCTGTCT___GAGCAGCCCCTGGGTGCGTCCACTTTCTGGGCACGTGAGGTTGGGCCTTGGCCGCCTGAGCCCTTGAGTTGGTCACTTGAACCTTGGGAATATTGAG|CCATGTGAAGACCATGATTGCTTTCCCTTCAGCCTTCCACCTTTGTAAGTTTCCTGAGGCCTCCCCAGAAGCAGAATCCTGCATAGTCTGCAGAACT(___GATTTTAGAATGCCAAGCTGACATTTTGAGTTTTTATGAGAAACCAGAAAATTTGGTGTGAAGACCCTAAGTGGTGTGTCTGACTTACAGCAGGCCCACA___GTACCTGTTATTGAGTGAGATAAGCAAATGGTATTTCAGGACCAAAACATCTGTTTCCTGAAGAGTTGCTCCTTTAATTGTGTATCTACCTACCTGTCTATGTAACTCTTG___GCAAATACATTGGAGACTTCTCAACTTTCTGCTTCTGATGATCTCAACTTGTGGTATGGCAAAAGGAGAGCAAAATGTTCACCCAG___GGGTCTGAGTTTGGTTCAAGAGAGGAACTACAGCTGTTGGTGACTACAACCATCTGCCCAGATGACATCGTGATCAACTCCTCTGAATCACTCTAAAGGAACGAGAAGTCCTGGCAGCTGAGTCATGATCCCCCAGGAGCCATTAAGAAGTTAATCTTCAGTCACTTCCATCCAAACAGAAGAAAACCCATGAAGGATGAGAACTATGGGTCCTGAGAATGACAG___GTATTGAAGACAGGATTTATCTTCTCTACTTCTTCTTTTAGAAGCAGATCAAGAAACTGGCGATTGAAGAGTAACTGAAAGAAACGCAATCTGATCTTACTAGCAGTGAAAGAGCGAG___TCTCCCTCTGATGCCGAGCAGAAGCTAGACTGTACTGCTGCCATCTCAGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCTGAGTGCCTGCAATTGCAGGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGGAGACGGGGATTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCACCAGCCTCGGCCTCCTGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGGCGCCCAGACTGGAGTGCAGTGGCGTGATCTCAGCTCGCTACAACCTCCACCTCCCAGCCGCCTCCCTTGGCCTCCCAAA)$ . 11BR080 ENSG00000137266.14 ENSG00000228793.2 -/- -/+ chr6:3410188 chr6:3612939 CDS/splice-site intron inversion/5'-5' 2 2 0 8 4 high out-of-frame . Sugar_(and_other)_transporter(100%)| . . ENSG00000137266.14 ENSG00000228793.2 ENST00000436008.6 . upstream upstream . ^(GGAGGCGCCCGAAGTCGGAGAAATACAGCGCGGCCACCCCGGGAGCAGCAGCCTTTGCCCGCACCGCCGCCCGCAGGGCCCTGAACCGCCGGCAAGGGCGCGGGCCGGGCGCGGCGCCGGCTCCTCCTCCTGCCGCGTCCGGCGCGGAGCAGCGGAGAGCGGCGGGCTCGGCAGCCGGCGCCCGGGCCGCGGAACTGATGAGCCGCGGCGGCTGAGGGCCCGGCCGGCCTCTGCCCGCCTCTGCCCGGCGCCCGAGCGGGGCCGCAGCGCCCGGGGCGCGGGGTCCGGCGGGTGACATGGGGGCGGCCTGACGCACCCGGAGCCGCCGAGCGCTCTCTCTCGAGCCGCGGGCCCTCCTCGGCGGCAGCGGCTGCAGGCGCCTGGCCCGGCGCGCTGTGCCCGGGGCGCCCGCGGAGCCTCCGCCGCGCTCTATGCGCCTCTGCGGGAGCCGCGGGCCCGGGCCATGGCCATAGACCGGCGGCGCGAGGCGGCGGGCGGCGGGCCTGGGCGGCAGCCGGCCCCGGCCGAGGAGAACGGCTCCCTGCCGCCCGGGGACGCGGCGGCCTCGGCGCCCCTCGGGGGACGCGCGGGCCCCGGCGGCGGCGCGGAGATCCAGCCGCTGCCCCCACTGCATCCTGGAGGCGGCCCGCACCCGAGCTGCTGCTCCGCGGCTGCGGCCCCGAGCCTCTTGTTGCTGGACTATGACGGGTCGGTGCTGCCCTTCCTCGGGGGCCTGGGCGGGGGCTATCAGAAGACCCTCGTGCTGCTCACCTGGATCCCGGCGCTGTTCATCGGCTTCAGCCAGTTCTCGGACTCGTTCCTCCTGGACCAGCCCAACTTCTGGTGCCGCGGGGCCGGCAAAGGCACCGAGCTGGCAGGGGTCACCACCACAGGCCGGGGCGGGGACATGGGCAACTGGACCAGCCTCCCCACCACCCCCTTCGCCACTGCCCCCTGGGAGGCTGCGGGCAACCGGAGCAACAGCAGCGGCGCGGACGGAGGCGACACACCACCCCTGCCATCCCCTCCGGACAAGGGGGACAACGCCTCCAACTGTGACTGCCGCGCATGGGACTACGGCATCCGCGCCGGCCTCGTCCAGAACGTGGTCAGCAAG___TGGGATCTTGTGTGTGATAATGCCTGGAAGGTCCATATCGCTAAGTTCTCCTTACTGGTTGGATTAATCTTTGGCTACCTAATAACTGGATGCATTGCTGACTG___GGTCGGCCGGCG)GCCTGTGCTGCTGTTTTCCATCATCTTCATTCTGATCTTTGGACTGACTGTGGCACTGTCAGTGAATGTGACAATGTTCAGCACACTCAGGTTCTTTGAAGGATTTTGCCTGGCTGGAATCATTCTCACCTTGTATGCTTTAC|GGAAGCTTAATGGCATGGACTGAATTCATCACCTGCTGGGCCAGAGCGATGAGCAGTAATGGCAGATTTTATGAAGAGGCAGTTTGGAGGGCGAGTGGCCTGCTG___AGCCTATGACAGAGCCCTGCTGGCACACATATTATATGTGTGATAACGATGGTGATGAG MAIDRRREAAGGGPGRQPAPAEENGSLPPGDAAASAPLGGRAGPGGGAEIQPLPPLHPGGGPHPSCCSAAAAPSLLLLDYDGSVLPFLGGLGGGYQKTLVLLTWIPALFIGFSQFSDSFLLDQPNFWCRGAGKGTELAGVTTTGRGGDMGNWTSLPTTPFATAPWEAAGNRSNSSGADGGDTPPLPSPPDKGDNASNCDCRAWDYGIRAGLVQNVVSKWDLVCDNAWKVHIAKFSLLVGLIFGYLITGCIADWVGRRPVLLFSIIFILIFGLTVALSVNVTMFSTLRFFEGFCLAGIILTLYAL|rklngmd* 11BR080 ENSG00000224650.2 ENSG00000154767.15 -/- -/+ chr14:106810440 chr3:14156381 3'UTR/splice-site CDS translocation/5'-5' 15 0 0 820 64 medium out-of-frame . Immunoglobulin_V-set_domain(100%)| . . ENSG00000224650.2 ENSG00000154767.15 ENST00000424969.2 . upstream upstream duplicates(7),mismatches(40) ^(AATTTCTCAAATCCCATTGTTGTCACCCATCTTCCTCAGGACACTTTCATCTGCCCTGGGTCCTGCTCTTTCTTCAGGTGTCTCACCCCAGAGCTTGATATATAGTAGGAGACATGCAAATAGGGCCCTCACTCTGCTGAAGAAAACCAGCCCTGCAGCTCTGGGAGAGGAGCCCCAGCCCTGGGATTCCCAGCTGTTTCTGCTTGCTGATCAGGA)CTGCACACAGAGAACTCACCATGGAGTTTGGGCTGAGCTGGGTTTTCCTTGTTGCTATTTTAAAAG___GTGTCCAGTGTGAGGTGCAGtTGGTGGAGTCCGGGGGAGGCTTAGTTCAGCCTGGGGGGTCCCTGAGACTCTCCTGTGCAGCCTCTGGATTCACCTTCAGTAGgTACTGGATGCACTGGGTCCGCCAAGCTCCAGGGAAGGGGCTGGTGTGGGTCTCACGTATTAATAGTGATGGGAGTAGCACAAGCTACGCGGACTCCGTGAAGGGCCGATTCACCATCTCCAGAGACAACGCCAAGAACACGCTGTATCTGCAAATGAACAGTCTGAGAGtCGAGGACACGGCTGTGTATTACTGTGCAAGAGA|TCTCGGGATAGATGGCtaCAatTTT MEFGLSWVFLVAILKGVQCEVQLVESGGGLVQPGGSLRLSCAASGFTFSrYWMHWVRQAPGKGLVWVSRINSDGSSTSYADSVKGRFTISRDNAKNTLYLQMNSLRvEDTAVYYCARd|lgidgyn 11BR080 ENSG00000121413.12 ENSG00000104983.8 -/- +/- chr19:58088455 chr19:46014935 intron intron deletion/5'-5' 4 3 1 13 8 medium stop-codon . SCAN_domain(100%)| . . ENSG00000121413.12 ENSG00000104983.8 ENST00000600404.1 . upstream downstream . ^(GAATATCGCATCCGGGAACTCTGCGCGCCCATGCGGAGAGTCGGAGGGCGAGCTGACGAGGACGCTACGGCGGCGGGAA___GTCTGTGGGTTCTGGCACCACCTGAGCCCACTGGGCATCTGGTCATCCCTGGCACCTCTCCTTTGGAGCCACCTTGTCCCTGGCTAGACAGTCACATTTTCCAGTGCCGTTTTGGAAAGATGTTGCCTTTGGAGAAGGCGTTTGCCTCCCCCAGGAGCTCCCCAGCCCCGCCGGATCTGCCCACGCCGGGGTCAGCAGCCGGAGTCCAGCAGGAAGAACCCGAGACCATCCCTGAGAGGACCCCTGCTGACCTGGAGTTCTCCCGCCTGCGTTTCCGGGAATTTGTCTACCAGGAGGCTGCCGGGCCCCACCAGACCCTGGCCCGGCTGCATGAGCTGTGCCGCCAGTGGCTGATGCCTGAGGCGCGCTCCAAGGAGCAGATGCTGGAGCTGCTGGTGCTGGAGCAGTTCCTGGGCATCCTGCCTGATAAGGTCCGGCCCTGGGTGGTGGCACAGTACCCTGAGAGCTGCAAGAAGGCAGCCTCCCTGGTGGAGGGCCTCGCTGATGTCCTGGAAGAGCCAG___GGATGCTGCTGGGCTCCCCTGCGGGCTCATCCTCAATTCTTAGCGATGGAGTGTACGAGAGGCACATGGACCCTCTGCTGCTACCAGGCGAGCTCGCGAGCCCCAG)CCAGGCCCTTGGAGCTGGGGAGATCCCGGCACCTTCTGAGACACGTGAGTGCCCAGCTAGCCTGGCAGCCTCTGCTGGGCCTTAGGTGGGGTGTTGGGCAGAGGCCTGTGGTTGGGAGAGGGCAGAAGGGCAGCCAGGGAGTCAGGGGCTCCATGGTCCATGCTATCATTGGGACTTCCTCCTGTAGTTTCTCTGAATGTTAGACATTGTTTATTAAATTAGTCTTCAGAGATTATGCAGATCATCCATACTTACCACAAATAGTGAAGAAACATCA|TCAGTCTCAACTGACCCCATGGGGAGGGGCAGGGTCCTATCATATCCCCTGCGACGTGTGAGGAGGGATGTGGTCACATCACCCCCATGCACCTCACGAAGAGtACATGACCCCACCAtGCACAGGACACAC . 11BR080 ENSG00000100813.14 ENSG00000092051.17 -/- -/- chr14:23062929 chr14:23577624 CDS/splice-site 5'UTR/splice-site duplication 6 0 0 223 0 medium out-of-frame . SAP_domain(100%)|MORN_repeat(100%) . . ENSG00000100813.14 ENSG00000092051.17 ENST00000262710.5 ENST00000356300.9 upstream downstream . ^(CTTTTCTCTCGAAGGGCACCCGAAGATTGTCACGAGTCCTTAGACTCCAACTACTGCGGCAGCTTCCAAATTTCCTGAAAACCCTAAGCTGGGCCAGCCCGGCAGCCCACGCACTTCCGGCCTCGGACCCGCCCCAAACACCCAAGCGCCCCAGCGCCTCATCTCTAGGTCCGGAAATAAACGAACATCTCCGATTATGGTTATACCAGGGTCGAGGGTTTCCGAATATATTCGATTCAAAGCTTCGGCAAGACGAAGAAAACCGAGCCTGAAAGCAGGGCGAGAAAAGGGGCGCTGCAGGGCGGATGGAAAGAATTGATTGGTAACGATGTGGAGACGGAAACATCCGAGGACATCCGGAGGAACCCGGGGAGTTCTGAGTGGTAATCGAGGGGTAGAGTATGGCAGTGGGCGGGGTCATCTCGGTACGTTCGAAGGGCGTTGGCGGAAATTACCGAAGATGCCCGAAGCCGTCGGGACGGACCCGAGTACCTCACGCAAGATGGCGGAGCTGGAGGAGGTGACTCTGGACGGGAAGCCTCTTCAGGCGCTGCGGGTGACCGACCTGAAGGCCGCACTGGAGCAGCGAGGCCTAGCCAAGAGCGGGCAGAAGAGTGCCCTGGTCAAGCGGCTCAAAGGG___GCTCTAATGCTAGAAAATTTACAGAAACACTCAACACCCCATGCTGCATTCCAGCCAAATTCCCAG___ATTGGTGAGGAAATGAGCCAGAACAGTTTCATAAAACAGTATCTGGAAAAGCAGCAGGAGCTACTTAGGCAGCGTCTGGAACGTGAAGCTCGAGAAGCTGCAGAACTTGAAG___AAGCTTCAGCTGAGTCGGAGGACGAGATGATCCATCCTGAGGGAGTGGCTTCCCTGCTGCCTCCTGACTTTCAGAGCAGCCTGGAGAGACCAGAGCTGGAGCTCAGCAGACATTCGCCCA___GAAAAAGCTCCTCAATTTCTGAAGAGAAAGGTGACTCTGATGATGAGAAACCAAGGAAAGGAGAAAGACGATCATCTAGGGTCAGACAG___GCAAGAGCAGCTAAACTGTCTGAGGGCAGCCAACCTGCTGAGGAGGAAGAGGATCAAGAAACACCTTCCAGAAACCTAAGGGTCAGAGCAGATCGAAATTTGAAAACAGAGGAGGAAGAAGAGGAGGAGGAGGAGGAGGAAGAAGATGATGAAGAAGAGGAAGGTGATGATGAGGGACAAAAATCTAGGGAGGCACCAATCCTGAAAGAGTTTAAGGAAGAAGGGGAAGAGATACCTAGAGTAAAACCAGAGGAGATGATGGATGAGAGACCCAAAACAAGATCCCAGGAACAGGAGGTGTTAGAGAGAGGAGGGAGATTTACAAGATCCCAGGAAGAGGCTAGAAAAAGTCATCTGGCCAGACAGCAGCAGGAGAAGGAAATGAAAACAACATCTCCCCTTGAGGAGGAAGAAAGAGAAATAAAATCTTCACAAGGCTTAAAGGAAAAATCGAAGTCTCCTTCCCCTCCTCGACTGACTGAAGATCGAAAGAAGGCCTCACTTGTAGCGCTGCCAGAGCAAACTGCCAGCGAGGAGGAGACTCCTCCACCTTTACTAACAAAGGAAGCATCTTCTCCACCACCTCATCCACAGCTCCATAGCGAAGAAGAAATAGAGCCCATGGAAGGCCCAGCCCCCGCTGTCCTCATTCAGTTATCTCCTCCTAATACAGATGCTGACACCAGGGAGCTATTAGTATCTCAGCATACTGTCCAGTTGGTAGGAGGCCTGTCTCCTTTGTCAAGTCCTTCAGACACCAAAGCAGAATCTCCAGCAGAGAAAGTGCCAGAGGAGAGTGTCCTGCCTCTGGTTCAGAAAAGCACACTGGCTGACTACTCAGCCCAGAAGGATCTTGAACCTGAGTCAGACAGATCTGCTCAGCCCCTCCCTCTAAAAATTGAGGAATTAGCACTGGCCAAAGGAATCACTGAAGAATGTCTGAAACAGCCATCTTTGGAACAGAAGGAAGGCAGAAGAGCTTCTCATACCCTTCTCCCAAGCCACAGATTGAAACAGTCAGCTGATTCATCCTCTAGCCGGTCCTCCTCATCTTCCTCCTCCAGTTCTAGATCAAGATCTCGCTCTCCTGACAGTTCAGGTTCTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAGGTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACCAGTGCCACAACTGCAGGTCTGTGAGCCAAAGGAGAGGACTTCCACCTCCTCATCCTCTGTCCAAGCAAGGCGTCTGAGTCAGCCTGAATCAGCTGAAAAGCATGTGACCCAGAGGTTACAGCCTGAGCGG___GGGAGCCCAAAGAAGTGTGAAGCTGAAGAGGCAGAGCCACCAGCTGCCACACAGCCCCAAACCTCAGAGACTCAGACCTCTCATCTGCCAGAATCAGAAAGAATTCATCACACTGT___TGAGGAGAAGGAGGAAGTGACCATGGACACAAGTGAAAACAGACCTGAAAATGATGTTCCAGAACCTCCCATGCCTATTGCAGACCAAGTCAGCAATGATGACCGCCCGGAGGGCAGTGTTGAAGATGAGGAGAAGAAAGAG___AGCTCGCTGCCCAAATCATTCAAGAGGAAGATCTCCGTTGTCT___CAGCTACCAAGGGGGTGCCAGCTGGAAACAGTGACACAGAGGGGGGCCAGCCTGGTCGGAAACGACGCTGGGGAGCCAGCACAGCCACCACACAGAAGAAACCTTCCATCAGTATCACCACTGAATCACTAAAG___AGCCTCATCCCCGACATCAAACCCCTGGCGGGGCAGGAGGCTGTTGTGGATCTTCATGCTGATGACTCTCGCATCTCTGAGGATGAGACAGAGCGTAATGGCGATGATGGGACCCAT)GACAAGGGGCTGAAAATATGCCGGACAGTCACTaAG___GTAGTACCTGCAGAGGGCCAGGAGAATGGGCAGAGGGAAGAAGAGGAAGAAtAGAAGGAACCTtAAGaAGAACCTCCTGTACCTCCCCAGGTGTCAGTAGAGGTGGCCTTGCCCCCACCTGCAGAGCATGAAGTAAAGAAAG___TGACTTTAGGAGATACCTTAACTCGACGTTCCATTAGCCAGCAGAAGTCCGGAGTTTCCATTACCATTGATGACCCAGTCCGAACTGCCCAGGTGCCCTCCCCACCCCGGGGCAAGATTAGCAACATTGTCCATATCTCCAATTTG|CCACTCAGGATGAGGGTCCGGCCCTGCCTGCCCTCGCTGGGGCCCCCCCGCCCGGCCCCGGTCTAACTGCCCCCGCCCCGAG(GCCTCGCCCGGCTCCAAGGCCCCCAGCAGGCTCTCCAGTCCCAGGATGCGCTGAGCCGCCGGGGGGCTGAGGCCGCGCCAACTACATGCATGTCCCCCGGGGGCAAGTTCGACTTTGACGACGGGGGCTGCTACGTGGGGGGCTGGGAGGCGGGGCGGGCACATGGCTACGGCGTGTGCACGGGCCCCGGCGCCCAGGGCGAGTACAGCGGCTGCTGGGCACACGGCTTCGAGTCACTGGGCGTCTTCACGGGGCCCGGCGGACACAGCTACCAGGGCCACTGGCAGCAGGGCAAGCGCGAAGGGCTGGGCGTGGAGCGCAAGAGCCGCTGGACGTACCGCGGCGAGTGGCTGGGCGGGCTGAAGGGGCGCAGCGGCGTGTGGGAAAGCGTGTCCGGCCTGCGCTACGCCGGGCTCTGGAAGGACGGTTTCCAGGACGGCTACGGCACTGAGACCTACTCCGACGGAG___GCACCTACCAGGGCCAGTGGCAGGCCGGGAAGCGCCACGGCTACGGGGTACGCCAGAGTGTGCCCTACCATCAGGCGGCGCTGCTGCGCTCGCCCCGCCGCACCTCCCTGGATTCCGGCCACAGCGACCCCCCGACGCCACCCCCGCCCCTGCCCTTGCCGGGCGACGAGGGAGGCAGCCCCGCCTCGGGCTCCCGGGGCGGCTTCGTGCTGGCCGGGCCCGGGGACGCCGACGGCGCGTCGTCCCGAAAGCGCACTCCGGCGGCCGGCGGATTCTTTCGCCGTTCGCTGCTGCTCAGCGGGCTCCGAGCGGGCGGACGTCGCAGCTCCCTGGGCAGCAAGCGAGGCTCCCTGCGCAGCGAGGTGAGCAGCGAGGTGGGCAGCACCGGACCGCCCGGCTCGGAGGCCAGCGGGCCCCCGGCCGCAGCGCCGCCCGCCCTCATCGAGGGCTCGGCCACAGAGGTGTACGCGGGCGAGTGGCGCGCAGATCGGCGCAGCGGCTTCGGCGTCAGCCAGCGCTCCAACGGGCTGCGCTACGAGGGCGAGTGGCTGGGCAACCGGCGGCACGGCTACGGGCGCACCACCCGCCCCGACGGCTCCCGCGAGGAGGGCAAGTACAAGCGCAACCGGCTGGTGCACGGCGGGCGCGTCCGCAGTCTCCTGCCTCTGGCCCTTCGGCGGGGCAAGGTTAAGGAGAAGGTGGACAGGGCTGTCGAGGGCGCCCGTCGAGCCGTGAGTGCTGCCCGTCAGCGCCAGGAGATCGCCGCTGCCAG___GGCAGCAGACGCCCTCCTAAAGGCAGTGGCAGCCAGCAGTGTCGCTGAGAAGGCCGTGGAGGCAGCTCGAATGGCCAAACTGATAGCCCAGGACCTGCAGCCCATGCTAGAGGCCCCAG___GCCGCAGACCCAGGCAGGACTCAGAAGGTTCCGACACGGAGCCCCTGGATGAGGACAGCCCTGGGGTATATGAGAACGGACTGACCCCCTCAGAGGGATCCCCTGAACTGCCCAGCAGTCCTGCCTCCTCCCGCCAACCCTGGCGACCCCCTGCCTGCCGGAGCCCACTGCCTCCTGGAGGGGACCAGGGTCCCTTCTCCAGCCCCAAAGCTTGGCCTGAGGAGTGGGGGGGGGCAGGCGCACAGGCAGAGGAACTAGCTGGCTATGAGGCTGAGGATGAGGCTGGGATGCAAGGGCCAGGGCCCAGAGACGGTTCCCCACTCCTCGGAGGCTGCAGCGACAGTTCAGGAAGTCTTCGAGAGGAGGAGGGGGAGGATGAAGAGCCCCTGCCCCCGCTGAGGGCCCCAGCAGGCACGGAGCCTGAGCCCATCGCCATGCTGGTCCTGAGGGGCTCGTCCTCGAGGGGTCCTGATGCTGGGTGCCTGACAGAAGAGCTCGGGGAGCCCGCTGCAACCGAGAGGCCTGCCCAGCCG___GGAGCTGCCAACCCCCTGGTGGTGGGAGCCGTGGCCCTCCTGGACCTCAGCCTGGCATTCCTGTTCTCCCAGCTCCTCACCTGAGGCTACTTCCTGGCCTGGTTCTGGCTTTGGTTGCGTGCCTCTTCACCCCTTTGACCTGCCTTTTTTCTCTTCTCCTCTTCCTGGCTGTGTTTTCTCCTATCTTTCTTTCTCTTCTTCCTTTCTTTTCTGTGCTCCTTTGTTTTTTTCTCTCGCTTTTTCTTTCCCTGTCTTCTTTCAGATTATCTCATTTCTTCTGGATCTGTCTCTGTATTCCTCACTCCCTTCCCCATCCCAACCCCTTCTTTCTCTAGATTGTTTACATATGAAGGGCTTTTCTCTCTCAGAGTTGCTGTCTTCTCTGAGACACACAAATCTAAGTCAGACCATTGCTCCACGCCCTCCCACCTTTTCTTTAGACCTCAACTTCGCTGCGGGTGGGGGTTTGGTGTCCTAAGGAGACTCCTGGAAGCTGAATGGAGAGGAGGAAGAAAATGAAGAAGGAGTGATTGAATGTCGGGCAAGGCACTGGCTGAGCTGCTGTGGCTCCCTAGCCTAAGGGGCCTGCTGTCCCTCTGAGGCCTAGTGAAAAAGCTGCAGGAGGTGCATCCTCCACCTCTAATCTTGGAGGCTATTATCTTACCTCCAAGCACTGAGCTGGGTTACTGCCCAATTCCATCCTTCCCTGAAGGAGAGAAGGGAAGTGAAAAGTAGAGTAACTCCCCAGCATTTCCCTCTTTTTCTCCTCATCGGCCAGCCCCTCCTCCAGCCCCCTCTGGTGGCATGCCATGCCAAGAGCAACGTGTAAAGGAACAGAGAATATCCAATGCAGTCAAGTCCACCCTGCCCAGACTTTGCCACTGACTTCTCCCACCCTTCTGTCTCCCCCATAATAGTTTATTTGGTTGGTCTGGACTCACTTGTGGCCTTTGATTAAATTCCTAAGGGGCCTGAAGAAGACATTTCTACTGCAGAGGGTTAGAGGCACTTGAGCAAGGCCCCCACATCCCAACTCTGGGAGTTGTGGTGGGAGGAGGCACTTCTGGGGGATAGGACCAGACAAGATAACAGGAGCTCACATGGAAGCAGAAGCTGTGACAAGTTTAGTAGTCCCAAAATGGGTTATATCCCTTCCCCCTTTACATCAGAATCTTGTGAAATGGGAAAACAACAGAAGGAGGGGATCAAAGATAGCTGATCTCACATGCTTCCCAGGCAGGGCAGAGGTGGGAGTCAAACCCGGGTGACAGGTGGGTGGAGAGCCCTGTTTGAGGTTGTGGCTGATCCCTCTCTGGTATTAGTTTTTCCCCTGGGAGCAGGAAGCCCTAGGAAGAGGGGACTGCAGGGTCCCCAGGGGATCTTTCCTCCCTCCCCTGCATGAGGCAGAGGCAAGCTGCCTGCCAACCCCCTCCCTCAAGGAATGGCCTTGCCCAGGAATGCCCACCACACATACCCTCTTCTTTTTTTCTAGTCAAACTCTTGTTTATTCCTTGGCTTGCCTCCCTCCTTCCTCCCCTCTCAACCTTTACTTCTGATTTCTATTTCATGGAATTTGGGATTGAAGTTAAACTACAACAGTGCCGCCAACACCAAGTCTTGCAGGAAAAAAATACAAAGAAATTTAACAAAAAAAATATATTAATAAAAAAGTTCAAAAAA)$ MWRRKHPRTSGGTRGVLSGNRGVEYGSGRGHLGTFEGRWRKLPKMPEAVGTDPSTSRKMAELEEVTLDGKPLQALRVTDLKAALEQRGLAKSGQKSALVKRLKGALMLENLQKHSTPHAAFQPNSQIGEEMSQNSFIKQYLEKQQELLRQRLEREAREAAELEEASAESEDEMIHPEGVASLLPPDFQSSLERPELELSRHSPRKSSSISEEKGDSDDEKPRKGERRSSRVRQARAAKLSEGSQPAEEEEDQETPSRNLRVRADRNLKTEEEEEEEEEEEEDDEEEEGDDEGQKSREAPILKEFKEEGEEIPRVKPEEMMDERPKTRSQEQEVLERGGRFTRSQEEARKSHLARQQQEKEMKTTSPLEEEEREIKSSQGLKEKSKSPSPPRLTEDRKKASLVALPEQTASEEETPPPLLTKEASSPPPHPQLHSEEEIEPMEGPAPAVLIQLSPPNTDADTRELLVSQHTVQLVGGLSPLSSPSDTKAESPAEKVPEESVLPLVQKSTLADYSAQKDLEPESDRSAQPLPLKIEELALAKGITEECLKQPSLEQKEGRRASHTLLPSHRLKQSADSSSSRSSSSSSSSSRSRSRSPDSSGSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPVPQLQVCEPKERTSTSSSSVQARRLSQPESAEKHVTQRLQPERGSPKKCEAEEAEPPAATQPQTSETQTSHLPESERIHHTVEEKEEVTMDTSENRPENDVPEPPMPIADQVSNDDRPEGSVEDEEKKESSLPKSFKRKISVVSATKGVPAGNSDTEGGQPGRKRRWGASTATTQKKPSISITTESLKSLIPDIKPLAGQEAVVDLHADDSRISEDETERNGDDGTHDKGLKICRTVTkVVPAEGQENGQREEEEE*KEP*eEPPVPPQVSVEVALPPPAEHEVKKVTLGDTLTRRSISQQKSGVSITIDDPVRTAQVPSPPRGKISNIVHISNL|plrmrvrpclpslgpprpapv* 11BR080 ENSG00000211937.3 ENSG00000197183.14 -/- -/- chr14:106037903 chr20:32493658 CDS/splice-site intron translocation 5 0 0 790 0 medium out-of-frame . Immunoglobulin_V-set_domain(100%)| . . ENSG00000211937.3 ENSG00000197183.14 ENST00000390597.3 . upstream downstream mismatches(3) ^(AGTGACTCCTGTGCCCC)ACCATGGACACACTTTGCTCCACGCTCCTGCTGCTGACCATCCCTTCAT___GGGTCTTGTCCCAGATCACCTTGAAGGAGTCTGGTCCTACGCTGGTGAAACCCACACAGACCCTCACGCTGACCTGCACCTTCTCTGGGTTCTCACTCAGCACTAGTGGAGTGGGTGTGGGCTGGATCCGTCAGCCCCCAGGAAAGGCCCTGGAGTGGCTTGCACTCATTcATTGGGATGATGATAAGCGCTACAGCCCATCTCTGAAGAGCAGGCTCACCATCACCAAGGACACCTCCAAAAACCAGGTGGTCCTTACAATGACCAACATGGACCCTGTGGACACAGCCACATATTACTGTGCACACAGA|AACTATGGTTCGGGgGGgcCcCTG MDTLCSTLLLLTIPSWVLSQITLKESGPTLVKPTQTLTLTCTFSGFSLSTSGVGVGWIRQPPGKALEWLALIhWDDDKRYSPSLKSRLTITKDTSKNQVVLTMTNMDPVDTATYYCAHR|nygsggp 13BR009 ENSG00000171634.18 ENSG00000171634.18 +/+ +/- chr17:67854021 chr17:67868463 CDS intron inversion/3'-3' 20 14 3 34 42 high out-of-frame . . . . ENSG00000171634.18 ENSG00000171634.18 ENST00000306378.11 . downstream downstream duplicates(1),mismatches(1) ^(AGTCACCGAGCGAGAGGGAAGAAACAAGATGGCGGCTGAAGGCGATCCGGAGTGGGGCCCCAGCAATTCGGATTGAGCCTTCTCCCTCCACCCGCTTCCGTCGGCCGGGCCCCTCCCGCCCGGCCCCGCGGGCCTCCCCACCCGGCCCCGGCGCTCCCCACCGCCCCCCCTGCGCCCGCCCCTCCCCCTTCGCTTTCCTTCTCCCCCCGCCTCGGCTCCGACATGAGGGGCCGGCGGGGCAGGCCGCCCAAGCAGCCCGCGGCTCCCGCTGCGGAGCGCTGCGCCCCGGCCCCGCCGCCACCGCCGCCGCCGCCCACGTCCGGACCCATCGGGGGGCTCCGCTCGCGGCACCGCGGCAGCAGCCGGGGCAGGTGGGCCGCCGCCCAGGCTGAGGTGGCGCCCAAGACGCGGCTGAGCTCGCCCAGGGGGGGCAGCAGTAGCCGGAGGAAGCCGCCGCCGCCGCCGCCGGCCCCCCCCAGCACCAGCGCCCCGGGCCGGGGGGGGCGAGGAGGCGGGGGCGGCAGGACGGGGGGCGGGGGCGGCGGCGGCCACCTGGCCCGGACCACCGCGGCCCGGAGGGCCGTCAACAAAGTGGTGTACGATGACCACGAGAGCGAGGAGGAGGAGGAAGA)GGAGGACATGGTCTCCGAGGAGGAGGAGGAGGAGGACGGCGcCGCCGAGGAGACCCAGGATTCTGAGGACGACGAGGAGGATGAGATGGAAGAGGACGACGATGACTCCGATTATCCGGAGGAGATGGAAGACGACGACGACGACGCCAGTTACTGCACGGAAAGCAGCTTCAGGAGCCATAGTACCTACAGCAGCACTCCAG___GTAGGCGAAAACCAAGAGTACATCGGCCTCGTTCTCCTATATTGGAAGAAAAAGACATCCCGCCCCTTGAATTTCCCAAGTC|ATATCAGCAGGTTCCACAGGGCTGACTGCAGGACTTGGGCATCCATGGATTTTGCTATCTGCAGAGGGCTCTGGAAGCAATCCCTGAGAATACTGAGGGATGGCTACATTAGAAAACACAGGTGGTATTTATTAAACATGCACAGAATACATCTGGCAGGACAAAAAAACATACAGCAATAATGATTGCCTCTGGAGAAcGGAAGGTCAGATTGGAGATTTTGAAGGAGAGAGATTCATTTTTCACAGCATACCC MRGRRGRPPKQPAAPAAERCAPAPPPPPPPPTSGPIGGLRSRHRGSSRGRWAAAQAEVAPKTRLSSPRGGSSSRRKPPPPPPAPPSTSAPGRGGRGGGGGRTGGGGGGGHLARTTAARRAVNKVVYDDHESEEEEEEEDMVSEEEEEEDGaAEETQDSEDDEEDEMEEDDDDSDYPEEMEDDDDDASYCTESSFRSHSTYSSTPGRRKPRVHRPRSPILEEKDIPPLEFPKs|yqqvpqg* 13BR009 ENSG00000135372.9 ENSG00000255532.1 +/+ +/+ chr11:34113838 chr11:49334666 CDS/splice-site intron deletion 18 10 1 257 52 high out-of-frame . Domain_of_unknown_function_(DUF1726)(100%)| . . ENSG00000135372.9 ENSG00000255532.1 ENST00000257829.8 . downstream upstream duplicates(1) ^(AGTTCCTGAGAGGGACGCGTGCCGCGGAGCCAGGCTTACTACGTGACCCGGACACCAGGCATACGCTAGGGGCAGTCAGCTGTGCCTTCTCTTTCGGAGTTGTTCCGTGCTCCCACGTGCTTCCCCTTCTCCACTGGCTGGGATCCCCCGGGCTCGGGGCGCAG___TAATAATTTTTCACCATGCATCGGAAAAAGGTGGATAACCGAATCCGGATTCTCATTGAGAATGGAGTAGCTGAGCGGCAAAGATCTCTCTTTGTTGTAGTTGGGGATCGAGGAAAAGATCAG___GTGGTAATACTTCATCACATGTTATCCAAAGCAACTGTGAAGGCTCGGCCTTCAGTGCTGTGGTGTTATAAGAAAGAGCTGGGGTTTAGCAG___TCACCGGAA)GAAAAGAATGCGACAGCTGCAGAAGAAAATAAAGAATGGAACACTGAACATAAAGCAGGACGACCCCTTTGAACTCTTCATAGCAGCCACAAACATTCGCTACTGCTACTACAACGAGACCCACAAGATCCTGGGCAATACCTTCGGCATGTGTGTGCTGCAG___GATTTTGAAGCCTTAACTCCAAACTTGCTGGCCAGGACTGTAGAAACAGTGGAAGGTGGTGGGCTAGTGGTCATCCTCCTACGGACCATGAACTCACTCAAGCAATTGTACACAGTGACTATG|TGTCCAACTGAAACCAAAGCAACATTTGGGGTTCATCTTAAAATAGTAGAAGACTGGACAGGTATGTAGAACATACAGTTTTAAGATACATTCTTTGAAAATAGTGaAATGTAATAATTTGAATGTGTTTTAATATAACTACCAGTATGTATAGAGATGTGTATGTGTTTCAAGCTGTTCTGGTTTTTTTTTTTTTTGCTTGTACAGTTTTGACATCTATGTTTTCTCTTTTAAG MHRKKVDNRIRILIENGVAERQRSLFVVVGDRGKDQVVILHHMLSKATVKARPSVLWCYKKELGFSSHRKKRMRQLQKKIKNGTLNIKQDDPFELFIAATNIRYCYYNETHKILGNTFGMCVLQDFEALTPNLLARTVETVEGGGLVVILLRTMNSLKQLYTVTM|cptetkatfgvhlkivedwtgm* 13BR009 ENSG00000007545.16 ENSG00000169436.17 +/+ -/- chr16:1656992 chr8:138826781 CDS/splice-site CDS/splice-site translocation 9 17 0 65 52 high out-of-frame . |Collagen_triple_helix_repeat_(20_copies)(100%) . . ENSG00000007545.16 ENSG00000169436.17 ENST00000397412.8 ENST00000303045.11 downstream downstream duplicates(1),mismatches(3) ^(GAGGTCCCCACCGGCCGCCGTAGCCGGAACTGCTGCTGAGGGCGGCGGGCCGGCTTCGCTAGGGTGAGTGGCGGCAGTATCTGCGTCCGCAGCCCCCGCAGCCGCGCGCCGGCCCGCGGAGGGGACGTGCCGGGGCTAGCGCCGCTCGACCAGTCGCTTCCGAGGCGGACGACCAGCCCGGCGTTGCGGCCTCCCTGCAGCCGGCGCTCGGGGGCCGGGGCTGCCCGGCCCGGCTGGTTCTGCGGGCACCCGGGGAGGCCCCGGGAAGCCAGGCTGCCGCCCGGCGTTGATGAAAAAG___GATGACAGTGAAGTTGGGCGACGGCGGCAGCGGGGAGGACGGGCTCAAGAAGCTGGGCAAGCGGGCGGCCGATGAGGAGTCCCTGGAAGGAGAAGGGGCCGGCGGCGCAGACGCGGCCGAGGAGAGCAGCGGCACAAAGAGGGACGAGAAGACCCCCCGGGCCGGCGCCGACGGCCCCCCCGCGCCCCCCGGCGCGCCGCAGGCGCCGTCCCCGCCGCAGGGCAGCCCCCAGGACCAGCACCACTTCCTCCGGTCCAGCGTGCGGCCGCAGAGCAAGAGGCCCAGGAAGGATCCTCCGAGCGCTGTGGGGAGCGGCAACGCCGGTGGCTCGGGGCCCCGCGGAAAAG___GAGCTGAAGGTGGTGGATCATCGTCTGGAAATGTGTCTGGGGTTGCCCCTGCTGCCCCTGCAGGGGGCTCGCGCTCCTCCTCCCGGAACTTAGGGTCTTCTGGTGGCGAGAAGGAAGAAGGCAAAAAGGTCCGGCGGCAGTGGGAGTCGTGGAGCACAGAGGACAAGAACACCTTCTTCGAGGGGCTGTACGAG___CATGGGAAAGACTTTGAAGCGATTCAGAACAACATTGCGCTGAAGTACAAGAAGAAAGGCAAGCCAGCAAGCATGGTGAAGAACAAGGAGCAGGTCCGCCACTTCTACTACCGCACCTGGCACAAGATCACCAAGTACATCGACTTTGATCATG___TGTTCTCTCGAGGCCTGAAGAAGTCATCCCAGGAACTGTATGGCCTGATCTGCTATGGCGAGCTGCGCAAGAAGATTGGGGGCT___GTATGGATGACAAGAATGCAACAAAGCTGAATGAACTCATTCAGGTTGG___GGCCACCACTGTACGTTACAAAGGGCGGAACCTGCGGATCAAAGCGCCCATGTGCCGGGCCCTGAAGAAGCTGTGCGATCCAGATG___GCTTGAGTGATGAAGAGGACCAGAAGCCAGTGCGCCTGCCTCTGAAAGTCCCTATAGAGCTACAGCCGCGGAACAACCACGCCTGGGCCCGTGTGCAGAGCCTTGCCCAGAACCCACGCCTCAG___GATGATCGTGGAGCTACATCGAAAGGTCTCCAGCCTCATCGAATTCTTGAAGCAGAAGTGGGCGCTCCATGAGGTGCGAGTT___CGGAAGACACTCGAGGAGCGGCAGCTGCAGGACTCATGCTCCGCACCGATGCAGGAGAAGGTGACACTGCACTTGTTCCCAGGCGAGAACTGTACACTGACACCGCTGCCGGGCGTGGCTCGCGTGGTGCACTCCAAGGCCTTCTGCACAGTGCACTGGCAGGAGGGCGGCCGGTGCAAGCAGAGTGCCAAGGACGCCCACGTGCTGCCCCCAGCCCAGATCCTGGGCATCCAGAGTGGGCAGGGCACGGCCCGGGGCCAGGTGAAATGCCCGCGGAGCGGAGCTGAGGGCAAGGGTGTGGGGCGGCCCCCTCCTGCGGCTGACGCCTTGCAGAGCTCCGGAGAGAGTTCCCCCGAAAGCGCCCCCGGGGAGGGGGCTGCCCTAAGCTTGAGCAGCCCGGACGCTCCTGACAGGCCTCCTCCCAGGCACCAGGACACTGGGCCATGTCTTGAGAAGACCCCTGCAGAAGGCAGGGACAGTCCCACCCGGGAGCCAGGGGCCTTGCCGTGTGCCTGTGGCCAGCTCCCAGACCTGGAGGACGAGCTCTCGCTTCTAGACCCCTTGCCCCGCTACCTAAAGTCCTGTCAGGACCTCATTGTCCCCGAGCAGTGCCGCTGTGCGGACACACGGCCTGGGAGCGAGCAGCCCCCTCTGGGCGGGGCGGCCTCCCCAGAGGTGCTGGCTCCTGTCAGCAAGGAGGCTGCTGACCTTGCTCCCACTGGCCCATCCCCGAGGCCCGGCCCCGGGCTCCTGCTGGATGTTTGCACTAAAGACTTGGCAGATGCACCTGCGGAGGAGCTCCAGGAGAAGGGGAGCCCCGCGGGGCCTCCGCCGTCTCAGGGACAGCCTGCCGCCAGGCCCCCGAAGGAGGTCCCCGCCAGCC)GGCTGGCTCAGCAGCTCCGTGAGGAGGGCTGGAACCTGCAGACCTCCGAAAGCCTCACGCTGGCCGAAGTCTACCTCATGATGGGCAAGCCCAGCAAGCTGCAGCTGGAGTACGACTGGCTGGGGCCCGGCCGCCAGGACCCCCGCCCCGGCTCCCTACCCACCGCCCTCCACAAGCAGCGCCTCCTCAGCTGCCTCCTGAAGCTCATTTCCACCGAGGTCAACCCCAAGCTG|GGATGTGTTCCCCCAAGGTTTACCTGATGAGTACGCCTTTGTCACAACCTTCCGGTTCAGGAAAACCTCTCGGAAGGAAGACTGGTATATCTGGCAGGTCATCGACCAGTACgGCATCCCACAG___GTCTCCATCCGGCTGGATGGTGAAAACAAGGCAGTCGAGTACAACGCTGTGGGTGCCATGAAAGATGCTGTCAGGGTGGTCTTCCGAGGTgCTCGGGTCAATGACCTCTTTGACCGGGACTGGCACAAGATGGCCCTGAGCATCCAGGCCCAGAACGTCTCCCTGCACATTGACTGTGCGCTGGTGCAGACACT(ACCCATCGAGGAACGGGAGAACATTGACATCCAGGGCAAGACTGTGATTGGCAAGCGCCTCTACGACAGTGTGCCCATTGAC___TTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCG___TGCCAGGTGACCGTGGTGACAGAGCCTCCACCTCCACCCCCACCCCAGCGGCCTCCCACCCCAGGCAGTGAACAGATTGGGTTTTTGAAGACCATCAACTGCTCCTGCCCAGCTGGAGAGAAG___GGTGAAATGGGAGTTGCTGGCCCCATGGGGCTCCCTGGTCCAAAG___GGAGACATAGGAGCCATTGGGCCGGTTGGCGCTCCTGGACCTAAGGGAGAGAAAGGTGATGTG___GGCATAGGACCTTTTGGCCAAGGGGAAAAGGGTGAAAAG___GGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGA___GGGGAGCCAGGAGAGCTGGGAGAGCCGGGGCTGCCGGGTGAGGTCGGCATGCGG___GGGCCCCAAGGACCACCTGGACTCCCCGGACCTCCTGGACGTGTCGGAGCTCCT___GGTCTCCAAGGAGAACGAGGTGAAAAGGGAACTCGAGGAGAAAAG___GGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAG___GGCAGGCCCGGCCCTTCTGGTGTGGCAGGACCCCAGGGAGAAAAG___GGTGACGTGGGACCTGCGGGGCCACCTGGTGTACCAGGCTCAGTG___GTGCAGCAAGAGGGCTTGAAAGGGGAACAG___GGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGG___GGTCCAATAGGCCCAGAAGGCAGGGATGGACCTCCTGGTTTGCAAGGTCTCCGA___GGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAG___GGCCCTCCAGGACCCCCTGGTGTCCCAGGCCCCCCTGGACCGGGAGGTTCTCCG___GGTTTGCCTGGAGAGATCGGCTTCCCGGGAAAGCCTGGACCTCCTGGGCCCACG___GGACCCCCTGGAAAGGACGGGCCAAATGGACCACCAGGTCCGCCAGGAACCAAG___GGAGAACCAGGAGAAAGAGGGGAAGATGGTCTGCCTGGAAAACCAGGCCTTCGG___GGAGAAATTGGGGAGCAGGGCCTGGCAGGCCGACCTGGAGAGAAG___GGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAG___GGAGAAAAAGGTGAACTGGGACTTCCAGGACTGAAAGGTGACCGAGGTGAAAAG___GGTGAAGCTGGTCCTGCAGGCCCTCCCGGGTTACCTGGAACT___ACATCCCTGTTCACACCACATCCACGGATGCCC___GGAGAACAAGGGCCCAAAGGAGAGAAGGGCGATCCAGGCCTGCCTGGGGAACCG___GGACTGCAGGGCCGTCCTGGAGAATTGGGGCCTCAGGGACCCACTGGACCACCG___GGTGCCAAGGGACAGGAAGGTGCACATGGGGCTCCTGGAGCAGCTGGAAACCCC___GGTGCTCCCGGACATGTCGGTGCCCCCGGTCCCAGTGGCCCTCCAGGAAGTGTG___GGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAG___GGTGCAGCGGGGGAAGAAGGCAGCCCAGGGCCAGTTGGTCCCAGGGGAGATCCTGGTGCTCCTGGGCTCCCTGGGCCACCCGGAAAAGGGAAGGATGGAGAGCCG___GGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAG___GCTGCTTGCGGAAAAGTCAGAGGGTCAGAAAACTGTGCACTGGGAGGGCAATGTGTTAAG___GGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCT___GGCCCTTCCGGACCACCAGGAGACAAAGGATCCCCG___GGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGAC___GGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCG___GGCCTCTCTTCACTACTGTCTCCAGGGGACATAAATCTCTTGGCTAAG___GATGTGTGCAATGACTGCCCTCCTGGCCCCCCAGGCCTCCCTGGTCTACCAGGTTTTAAAGGGGACAAAGGTGTCCCAGGAAAGCCAGGGAGAGAAGGCACAGAAGGGAAAAAG___GGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAG___GGAAGTCAAGGAGAACGTGGTGCAGATGGTGAGGTTGGGCAGAAAGGTGATCAG___GGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCA___GGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCT___GGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCA___GGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCG___GGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCT___GGCTTCAAGGGACACACAGGCGATTCTGGTGCACCCGGTCCCCGG___GGAGAGTCTGGTGCCATGGGGCTTCCTGGTCAGGAAGGGTTACCAGGAAAAGAT___GGTGACACTGGACCCACTGGGCCACAGGGTCCCCAAGGACCAAGGGGCCCACCG___GGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCT___GGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCG___GGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAG___GGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGG___GGAGATCCTGGGATCAAAGGTGACAAAGGACCTCCTGGTGGAAAAGGCCAGCCTGGGGACCCTGGAATCCCAGGCCACAAAGGCCACACAGGCCTGATGGGTCCCCAAGGACTACCTGGGGAGAATGGACCAGTTGGACCCCCAGGGCCTCCAGGCCAGCCGGGATTTCCAGGACTGAGG___GGGGAGTCTCCATCCATGGAAACCCTGCGTCGGCTTATTCAAGAAGAGCTGGGGAAGCAGCTTGAAA___CCAGACTCGCCTACCTCCTGGCCCAGATGCCCCCGGCGTACATGAAGTCATCTCAAGGCAGACCTGGGCCCCCAGGGCCCCCTGGAAAAGATGGGCTTCCAGGCCGGGCCGGCCCCATGGGGGAGCCAGGTCGTCCTGGGCAGGGGGGTCTGGAAGGACCCTCTGGACCCATAGGTCCCAAAG___GTGAGCGAGGAGCCAAAGGTGACCCAGGTGCACCTGGAGTTGGCCTCCGAGGCGAGATGGGACCCCCTGGAATCCCAG___GTCAACCCGGGGAACCTGGCTATGCTAAAGATGGACTTCCTGGGATCCCTGGCCCTCAAGGGGAGACAGGACCAGCTGGACATCCTGGCCTCCCAGGACCTCCCGGTCCCCCAGGCCAATGTGACCCTTCCCAGTGTGCCTACTTCGCCAGCCTTGCTGCCCGGCCGGGTAATGTGAAGGGTCCCTAAAGGACTCTGGAAAGCCAGAAGACTGCAGTGGATTTCTGAAACTTGAACTCAGAGCCCAGTGGGAAGCCAGAGGTCTTGAAAGACTTCAGCCATGTGTTCCTTTTTTTTTTCTTTCTTTTATCGTTTGCTTTTTGTTTTATTTTCTTGAGAGACCTCAAAATTATTAAATCCAACAGACGCTGCCGGTCGGTCAGATTATTATTAATATTATTGTTGTTGTTAATTATTATTATTATTTCATATGCTGATGCTTTGTGAGTTCTTTTCCACTCCTTTAAAGTTGGGAAAACTTGATTCGTGGGGCAGGAGATTGTTTCTTCATTCTTCTGACAGCCCCCATCTGACGCGTAACTGCCCATTTTAAGGAAACTCTTGGTGCTACAAAACCCTGACCAGACACTTGGCAAATTTACCTCTTTCTTCAAAAGAAAAACTTTAAGAAAATGAGCCAATGGGCTTCATTCTCAGTCATGCCCGGAGATCACCCAGGAGAAATAATACAAACACCACCACTGTCCAGAGAGAGTAAAGAAGCAGAAAGAGAAAGAATTTGCAACCATGAGGAATGTTCCCACCTCCCGACGGGACGTGCATTTGGAAAACACAGAATCAGCCCTCAGGGTGCACTCCAGCCACCTCAGTGCTCTAAGCTCACAGAAGTGAAATAATGTCTGTGGGTTGGCAATGGCTTTGTGGGATCATATGTCTTGGCCAAAGATGGGAAAACCTATGTTGAAGAGGCAGCCCTTGAGTGTTAATTTGTCTTCTAAACTGTGTAAGGCCCCTTCAAGTTCCTCTTGTTGGTTTCAATTATATTAATTATAAAACAAGTGGATGTGGTGACCATCCACTTGTGTTTCCCTAATGATGGGCAGTTGGCCAGGGCACTGACCAGAGCTGGGAAATTTGTATCTCCAAGGCGGCTCTGTCTCTGAAATAAATGGCATCAAGTGCATGTGTGTATGCGACATGCCCTGCCTGAACAGGTGCTCAATAAATCCAAGTTTCCTTCTCTTGA)$ MTVKLGDGGSGEDGLKKLGKRAADEESLEGEGAGGADAAEESSGTKRDEKTPRAGADGPPAPPGAPQAPSPPQGSPQDQHHFLRSSVRPQSKRPRKDPPSAVGSGNAGGSGPRGKGAEGGGSSSGNVSGVAPAAPAGGSRSSSRNLGSSGGEKEEGKKVRRQWESWSTEDKNTFFEGLYEHGKDFEAIQNNIALKYKKKGKPASMVKNKEQVRHFYYRTWHKITKYIDFDHVFSRGLKKSSQELYGLICYGELRKKIGGCMDDKNATKLNELIQVGATTVRYKGRNLRIKAPMCRALKKLCDPDGLSDEEDQKPVRLPLKVPIELQPRNNHAWARVQSLAQNPRLRMIVELHRKVSSLIEFLKQKWALHEVRVRKTLEERQLQDSCSAPMQEKVTLHLFPGENCTLTPLPGVARVVHSKAFCTVHWQEGGRCKQSAKDAHVLPPAQILGIQSGQGTARGQVKCPRSGAEGKGVGRPPPAADALQSSGESSPESAPGEGAALSLSSPDAPDRPPPRHQDTGPCLEKTPAEGRDSPTREPGALPCACGQLPDLEDELSLLDPLPRYLKSCQDLIVPEQCRCADTRPGSEQPPLGGAASPEVLAPVSKEAADLAPTGPSPRPGPGLLLDVCTKDLADAPAEELQEKGSPAGPPPSQGQPAARPPKEVPASRLAQQLREEGWNLQTSESLTLAEVYLMMGKPSKLQLEYDWLGPGRQDPRPGSLPTALHKQRLLSCLLKLISTEVNPKL|gcvpprft* 13BR009 ENSG00000261732.1 ENSG00000169436.17 +/+ -/- chr16:1656992 chr8:138826781 3'UTR/splice-site CDS/splice-site translocation 9 17 0 65 52 high . . |Collagen_triple_helix_repeat_(20_copies)(100%) . . ENSG00000261732.1 ENSG00000169436.17 ENST00000454337.1 ENST00000303045.11 downstream downstream duplicates(1),mismatches(3) ^(CAAGAAGAAAGGCAAGCCAGCAAGCATGGTGAAGAACAAGGAGCAGGTCCGCCACTTCTACTACCGCACCTGGCACAAGATCACCAAGTACATCGACTTTGATCATG___TGTTCTCTCGAGGCCTGAAGAAGTCATCCCAGGAACTGTATGGCCTGATCTGCTATGGCGAGCTGCGCAAGAAGATTGGGGGCT___GTATGGATGACAAGAATGCAACAAAGCTGAATGAACTCATTCAGGTTGG___ACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTCGACCTCAG___GAAACCTGTCAAG___GGCCACCACTGTACGTTACAAAGGGCGGAACCTGCGGATCAAAGCGCCCATGTGCCGGGCCCTGAAGAAGCTGTGCGATCCAGATG___GCTTGAGTGATGAAGAGGACCAGAAGCCAGTGCGCCTGCCTCTGAAAGTCCCTATAGAGCTACAGCCGCGGAACAACCACGCCTGGGCCCGTGTGCAGAGCCTTGCCCAGAACCCACGCCTCAG___GATGATCGTGGAGCTACATCGAAAGGTCTCCAGCCTCATCGAATTCTTGAAGCAGAAGTGGGCGCTCCATGAGGTGCGAGTT___CGGAAGACACTCGAGGAGCGGCAGCTGCAGGACTCATGCTCCGCACCGATGCAGGAGAAG___ACTTGGCAGATGCACCTGCGGAGGAGCTCCAGGAGAAGGGGAGCCCCGCGGGGCCTCCGCCGTCTCAGGGACAGCCTGCCGCCAGGCCCCCGAAGGAGGTCCCCGCCAGCC)GGCTGGCTCAGCAGCTCCGTGAGGAGGGCTGGAACCTGCAGACCTCCGAAAGCCTCACGCTGGCCGAAGTCTACCTCATGATGGGCAAGCCCAGCAAGCTGCAGCTGGAGTACGACTGGCTGGGGCCCGGCCGCCAGGACCCCCGCCCCGGCTCCCTACCCACCGCCCTCCACAAGCAGCGCCTCCTCAGCTGCCTCCTGAAGCTCATTTCCACCGAGGTCAACCCCAAGCTG|GGATGTGTTCCCCCAAGGTTTACCTGATGAGTACGCCTTTGTCACAACCTTCCGGTTCAGGAAAACCTCTCGGAAGGAAGACTGGTATATCTGGCAGGTCATCGACCAGTACgGCATCCCACAG___GTCTCCATCCGGCTGGATGGTGAAAACAAGGCAGTCGAGTACAACGCTGTGGGTGCCATGAAAGATGCTGTCAGGGTGGTCTTCCGAGGTgCTCGGGTCAATGACCTCTTTGACCGGGACTGGCACAAGATGGCCCTGAGCATCCAGGCCCAGAACGTCTCCCTGCACATTGACTGTGCGCTGGTGCAGACACT(ACCCATCGAGGAACGGGAGAACATTGACATCCAGGGCAAGACTGTGATTGGCAAGCGCCTCTACGACAGTGTGCCCATTGAC___TTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCG___TGCCAGGTGACCGTGGTGACAGAGCCTCCACCTCCACCCCCACCCCAGCGGCCTCCCACCCCAGGCAGTGAACAGATTGGGTTTTTGAAGACCATCAACTGCTCCTGCCCAGCTGGAGAGAAG___GGTGAAATGGGAGTTGCTGGCCCCATGGGGCTCCCTGGTCCAAAG___GGAGACATAGGAGCCATTGGGCCGGTTGGCGCTCCTGGACCTAAGGGAGAGAAAGGTGATGTG___GGCATAGGACCTTTTGGCCAAGGGGAAAAGGGTGAAAAG___GGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGA___GGGGAGCCAGGAGAGCTGGGAGAGCCGGGGCTGCCGGGTGAGGTCGGCATGCGG___GGGCCCCAAGGACCACCTGGACTCCCCGGACCTCCTGGACGTGTCGGAGCTCCT___GGTCTCCAAGGAGAACGAGGTGAAAAGGGAACTCGAGGAGAAAAG___GGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAG___GGCAGGCCCGGCCCTTCTGGTGTGGCAGGACCCCAGGGAGAAAAG___GGTGACGTGGGACCTGCGGGGCCACCTGGTGTACCAGGCTCAGTG___GTGCAGCAAGAGGGCTTGAAAGGGGAACAG___GGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGG___GGTCCAATAGGCCCAGAAGGCAGGGATGGACCTCCTGGTTTGCAAGGTCTCCGA___GGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAG___GGCCCTCCAGGACCCCCTGGTGTCCCAGGCCCCCCTGGACCGGGAGGTTCTCCG___GGTTTGCCTGGAGAGATCGGCTTCCCGGGAAAGCCTGGACCTCCTGGGCCCACG___GGACCCCCTGGAAAGGACGGGCCAAATGGACCACCAGGTCCGCCAGGAACCAAG___GGAGAACCAGGAGAAAGAGGGGAAGATGGTCTGCCTGGAAAACCAGGCCTTCGG___GGAGAAATTGGGGAGCAGGGCCTGGCAGGCCGACCTGGAGAGAAG___GGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAG___GGAGAAAAAGGTGAACTGGGACTTCCAGGACTGAAAGGTGACCGAGGTGAAAAG___GGTGAAGCTGGTCCTGCAGGCCCTCCCGGGTTACCTGGAACT___ACATCCCTGTTCACACCACATCCACGGATGCCC___GGAGAACAAGGGCCCAAAGGAGAGAAGGGCGATCCAGGCCTGCCTGGGGAACCG___GGACTGCAGGGCCGTCCTGGAGAATTGGGGCCTCAGGGACCCACTGGACCACCG___GGTGCCAAGGGACAGGAAGGTGCACATGGGGCTCCTGGAGCAGCTGGAAACCCC___GGTGCTCCCGGACATGTCGGTGCCCCCGGTCCCAGTGGCCCTCCAGGAAGTGTG___GGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAG___GGTGCAGCGGGGGAAGAAGGCAGCCCAGGGCCAGTTGGTCCCAGGGGAGATCCTGGTGCTCCTGGGCTCCCTGGGCCACCCGGAAAAGGGAAGGATGGAGAGCCG___GGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAG___GCTGCTTGCGGAAAAGTCAGAGGGTCAGAAAACTGTGCACTGGGAGGGCAATGTGTTAAG___GGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCT___GGCCCTTCCGGACCACCAGGAGACAAAGGATCCCCG___GGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGAC___GGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCG___GGCCTCTCTTCACTACTGTCTCCAGGGGACATAAATCTCTTGGCTAAG___GATGTGTGCAATGACTGCCCTCCTGGCCCCCCAGGCCTCCCTGGTCTACCAGGTTTTAAAGGGGACAAAGGTGTCCCAGGAAAGCCAGGGAGAGAAGGCACAGAAGGGAAAAAG___GGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAG___GGAAGTCAAGGAGAACGTGGTGCAGATGGTGAGGTTGGGCAGAAAGGTGATCAG___GGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCA___GGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCT___GGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCA___GGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCG___GGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCT___GGCTTCAAGGGACACACAGGCGATTCTGGTGCACCCGGTCCCCGG___GGAGAGTCTGGTGCCATGGGGCTTCCTGGTCAGGAAGGGTTACCAGGAAAAGAT___GGTGACACTGGACCCACTGGGCCACAGGGTCCCCAAGGACCAAGGGGCCCACCG___GGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCT___GGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCG___GGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAG___GGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGG___GGAGATCCTGGGATCAAAGGTGACAAAGGACCTCCTGGTGGAAAAGGCCAGCCTGGGGACCCTGGAATCCCAGGCCACAAAGGCCACACAGGCCTGATGGGTCCCCAAGGACTACCTGGGGAGAATGGACCAGTTGGACCCCCAGGGCCTCCAGGCCAGCCGGGATTTCCAGGACTGAGG___GGGGAGTCTCCATCCATGGAAACCCTGCGTCGGCTTATTCAAGAAGAGCTGGGGAAGCAGCTTGAAA___CCAGACTCGCCTACCTCCTGGCCCAGATGCCCCCGGCGTACATGAAGTCATCTCAAGGCAGACCTGGGCCCCCAGGGCCCCCTGGAAAAGATGGGCTTCCAGGCCGGGCCGGCCCCATGGGGGAGCCAGGTCGTCCTGGGCAGGGGGGTCTGGAAGGACCCTCTGGACCCATAGGTCCCAAAG___GTGAGCGAGGAGCCAAAGGTGACCCAGGTGCACCTGGAGTTGGCCTCCGAGGCGAGATGGGACCCCCTGGAATCCCAG___GTCAACCCGGGGAACCTGGCTATGCTAAAGATGGACTTCCTGGGATCCCTGGCCCTCAAGGGGAGACAGGACCAGCTGGACATCCTGGCCTCCCAGGACCTCCCGGTCCCCCAGGCCAATGTGACCCTTCCCAGTGTGCCTACTTCGCCAGCCTTGCTGCCCGGCCGGGTAATGTGAAGGGTCCCTAAAGGACTCTGGAAAGCCAGAAGACTGCAGTGGATTTCTGAAACTTGAACTCAGAGCCCAGTGGGAAGCCAGAGGTCTTGAAAGACTTCAGCCATGTGTTCCTTTTTTTTTTCTTTCTTTTATCGTTTGCTTTTTGTTTTATTTTCTTGAGAGACCTCAAAATTATTAAATCCAACAGACGCTGCCGGTCGGTCAGATTATTATTAATATTATTGTTGTTGTTAATTATTATTATTATTTCATATGCTGATGCTTTGTGAGTTCTTTTCCACTCCTTTAAAGTTGGGAAAACTTGATTCGTGGGGCAGGAGATTGTTTCTTCATTCTTCTGACAGCCCCCATCTGACGCGTAACTGCCCATTTTAAGGAAACTCTTGGTGCTACAAAACCCTGACCAGACACTTGGCAAATTTACCTCTTTCTTCAAAAGAAAAACTTTAAGAAAATGAGCCAATGGGCTTCATTCTCAGTCATGCCCGGAGATCACCCAGGAGAAATAATACAAACACCACCACTGTCCAGAGAGAGTAAAGAAGCAGAAAGAGAAAGAATTTGCAACCATGAGGAATGTTCCCACCTCCCGACGGGACGTGCATTTGGAAAACACAGAATCAGCCCTCAGGGTGCACTCCAGCCACCTCAGTGCTCTAAGCTCACAGAAGTGAAATAATGTCTGTGGGTTGGCAATGGCTTTGTGGGATCATATGTCTTGGCCAAAGATGGGAAAACCTATGTTGAAGAGGCAGCCCTTGAGTGTTAATTTGTCTTCTAAACTGTGTAAGGCCCCTTCAAGTTCCTCTTGTTGGTTTCAATTATATTAATTATAAAACAAGTGGATGTGGTGACCATCCACTTGTGTTTCCCTAATGATGGGCAGTTGGCCAGGGCACTGACCAGAGCTGGGAAATTTGTATCTCCAAGGCGGCTCTGTCTCTGAAATAAATGGCATCAAGTGCATGTGTGTATGCGACATGCCCTGCCTGAACAGGTGCTCAATAAATCCAAGTTTCCTTCTCTTGA)$ . 13BR009 ENSG00000048649.13 ENSG00000132749.11 -/- -/- chr11:77764598 chr11:68708500 CDS/splice-site CDS/splice-site deletion 3 14 2 44 340 high out-of-frame . . . . ENSG00000048649.13 ENSG00000132749.11 ENST00000308488.10 ENST00000255087.10 upstream downstream duplicates(1) ^(TTGTTTTCATTCCCCCTGTCACACGAGGCAGTGGCAAGCCCGAAGGGGAGGAGAGAAGGGGGCGGAAAGAGGGCGGAAAGTGAAAGGCGCCGAGGGCCGCTCTGTCTCCCGTCTGACTCGGTTCTCGACTGCTCCGGGCCGCCGATGTATTGTGGGATCGCGGAGCCGTCCCTGAGACGCTGGGATCCGCAGAGGAGCCCACTTGAGAGCGCCTCCTGTCGTCTGTAAGGTTGCCTTGCCATCCCTCGGCACCACAACTTCCCCCGCCCCCCCATCGCCTCCTCCTCCATCCTCCAGTTCAAAATGGCGACGGCGGCGGCAGCGGCGGCGGTGATGGCTCCTCCGGGCTGCCCG)GGTTCGTGCCCCAACTTCGCCGTAGTCTGCTCCTTCTTGGAGCGCTACGGGCCGCTGCTAGACCTGCCTGAGTTGCCGTTCCCTGAGCTGGAGCGGGTGCTGCAGGCGCCGCCGCCGGACGTCGGCAACGGAGAAG___TACCAAAAGAATTGGTGGAGCTCCATTTGAAGCTGATGAGGAAAATTGGCAAATCTGTTACTGCAGACAGATGGGAAAAATATTTGATCAAG|GCGGCCTTCCTCATGCATCTCCTGGGAGGTGGTGGAGGCCACATGCGCCTGCCTGCTTGCTCAGGGAGAAGAGGCCGAGAAAGAACACTGCTCCAAGTGCCTGGCAGAGCAGATGATCCTGGAGGAATTTGGAAGGTGCTTATCACAGATTCTCCACACTGAGTTTAAATCTAAGGGATTGAAAATGGAGTAGAGTATAAAGTGTGAATGCATGTTGATTTTGTCTTAGTCTAGAAATCTCTAGTTTAGAAAGGATGTTTA(GGGGAACATGAGGCTGGCTCTGCAGCAACAACCAGGCTCCCCTGCATCCCTGGGCCCAGGGAGTTTACTCAGAGCTCTCTGAAGATGTGGCAACCCATGCCCCCTTTTCTGAGGAGGTGCATGGCCTGAGCATTGTTTGTCTGGCCCAGAGGAGAGAGCTTGGGTTCCCATAGTCCTGGGAGAGTGTCTGCAGGGCGGCGGAGGGCAGAGCAGGGCAGGGGAGGGCACAGCAGGCCCTGCGAAGGGCAGAGCGGGGCAGGGGAGGGCAGAGCAGGCCCTGCGGAGAGCTCACTCTGGTCGACTCTTCCTCTCAGAGAATGTTGCTCTGGAGGCTGCTCTGCATGAAAACCCTAATGGTTTCTTGTTTGTTTTTCAAATTATTTAGAAATAAGTTCTCCGGATGGGCTGTTGTGATACCACTTAAAATCTCTAGAGAACTACTGAACACCTAAAGATTTTCTGTAGCGTAGATATTTCCCCAGAGGCACGCGAACTGTCAGTCTTTCCTAAGGCCCCCGGGAGACGCAGGCAATGGGGCCTCGCAGGCCAGGCTTGCACCAGCATGTCTTGAGTTAGAGGACTTAAAATTATCCAGTTTCTTCTGTGTTTCTACTTGAATTGTGGAAAAGCTCTATTATCCAATTAACTTCTCCATAATTATTGTTGTAATATTATTATTGTTTGTAAAACATGGTTCACATAACTAGCTTGTGGAAACCAGCAGGTAAAATGAATTCTTAAGTTGACGCTTTTGGTTCTGTTGTAAAGCAAAGATGAATAAAAATTTCCAATGTCTTCAA)$ MATAAAAAAVMAPPGCPGSCPNFAVVCSFLERYGPLLDLPELPFPELERVLQAPPPDVGNGEVPKELVELHLKLMRKIGKSVTADRWEKYLIK|aaflmhllggggghmrlpacsgrrgrertllqvpgraddpggiwkvlitdsph* 13BR009 ENSG00000026508.19 ENSG00000254562.7(158702),ENSG00000285751.1(179606) +/+ ./- chr11:35219387 chr11:38845025 CDS/splice-site intergenic inversion 9 9 0 1512 24 high out-of-frame . Extracellular_link_domain(100%)| . . ENSG00000026508.19 . ENST00000428726.8 . downstream downstream . ^(CTCATTGCCCAGCGGACCCCAGCCTCTGCCAGGTTCGGTCCGCCATCCTCGTCCCGTCCTCCGCCGGCCCCTGCCCCGCGCCCAGGGATCCTCCAGCTCCTTTCGCCCGCGCCCTCCGTTCGCTCCGGACACCATGGACAAGTTTTGGTGGCACGCAGCCTGGGGACTCTGCCTCGTGCCGCTGAGCCTGGCGCAGATCG___ATTTGAATATAACCTGCCGCTTTGCAGGTGTATTCCACGTGGAGAAAAATGGTCGCTACAGCATCTCTCGGACGGAGGCCGCTGACCTCTGCAAGGCTTTCAATAGCACCTTGCCCACAATGGCCCAGATGGAGAAAGCTCTGAGCATCGGATTTGAGACCTGCAG___GTATGGGTTCATAGAAGGGCACGTGGTGATTCCCCGGATCCACCCCAACTCCATCTGTGCAGCAAACAACACAGGGGTGTACATCCTCACATCCAACACCTCCCAGTATGACACATATTGCTTCAATGCTTCAG___CTCCACCTGAAGAAGATTGTACATCAGTCACAGACCTGCCCAATGCCTTTGATGGACCAATTACCATAA___CTATTGTTAACCGTGATGGCACCCGCTATGTCCAGAAAGGAGAATACAGAACGAATCCTGAAGACATCTACCCCAGCAACCCTACTGATGATGACGTGAGCAGCGGCTCCTCCAGTGAAAGGAGCAGCACTTCAGGAGGTTACATCTTTTACACCTTTTCTACTGTACACCCCATCCCAGACGAAGACAGTCCCTGGATCACCGACAGCACAGACAGAATCCCTGCTACCA___CTTTGATGAGCACTAGTGCTACAGCAACTGAGACAGCAACCAAGAGGCAAGAAACCTGGGATTGGTTTTCATGGTTGTTTCTACCATCAGAGTCAAAGAATCATCTTCACACAACAACACAAATGGCTG___GTACGTCTTCAAATACCATCTCAGCAGGCTGGGAGCCAAATGAAGAAAATGAAGATGAAAGAGACAGACACCTCAGTTTTTCTGGATCAGGCATTGATGATGATGAAGATTTTATCTCCAGCACCA___TTTCAACCACACCACGGGCTTTTGACCACACAAAACAGAACCAGGACTGGACCCAGTGGAACCCAAGCCATTCAAATCCGGAAGTGCTACTTCAGACAACCACAAGGATGACTG___ATGTAGACAGAAATGGCACCACTGCTTATGAAGGAAACTGGAACCCAGAAGCACACCCTCCCCTCATTCACCATGAGCATCATGAGGAAGAAGAGACCCCACATTCTACAAGCACAA___TCCAGGCAACTCCTAGTAGTACAACGGAAGAAACAGCTACCCAGAAGGAACAGTGGTTTGGCAACAGATGGCATGAGGGATATCGCCAAACACCCAAAGAAGACTCCCATTCGACAACAGGGACAGCTG___CAGCCTCAGCTCATACCAGCCATCCAATGCAAGGAAGGACAACACCAAGCCCAGAGGACAGTTCCTGGACTGATTTCTTCAACCCAATCTCACACCCCATGGGACGAGGTCATCAAGCAGGAAGAAGGATGG___ATATGGACTCCAGTCATAGTATAACGCTTCAGCCTACTGCAAATCCAAACACAGGTTTGGTGGAAGATTTGGACAGGACAGGACCTCTTTCAATGACAACGC___AGCAGAGTAATTCTCAGAGCTTCTCTACATCACATGAAGGCTTGGAAGAAGATAAAGACCATCCAACAACTTCTACTCTGACATCAAGCA___ATAGGAATGATGTCACAGGTGGAAGAAGAGACCCAAATCATTCTGAAGGCTCAACTACTTTACTGGAAGGTTATACCTCTCATTACCCACACACGAAGGAAAGCAGGACCTTCATCCCAGTGAC)CTCAGCTAAGACTGGGTCCTTTGGAGTTACTGCAGTTACTGTTGGAGATTCCAACTCTAATGTCAATCGTTCCTTATCAG___GAGACCAAGACACATTCCACCCCAGTGGGGGGTCCCATACCACTCATGGATCTGAATCAGATG___GACACTCACATGGGAGTCAAGAAGGTGGAGCAAACACAACCTCTGGTCCTATAAGGACACCCCAAATTCCAG|AAGATGCCTGCTTCCCCTTTGCCTTCCACAATGATTCTAAGTTTCCTGAGGCCTCCCCAGCCATGCAGAACT___GGACATGGATGAAGCTGGA?ACCATTGTTCTCAGCAAACT...___CTGGTGCCCTTTGCTGAAGGATATCTCCTGTGCTCTTCAGTGGCAGAAGCAAAATAAAAACATTTCATaTTATGGAAGCAaTTAGACACACATCTGTTGTTCCAGAACTTCCATATTAAATGC MDKFWWHAAWGLCLVPLSLAQIDLNITCRFAGVFHVEKNGRYSISRTEAADLCKAFNSTLPTMAQMEKALSIGFETCRYGFIEGHVVIPRIHPNSICAANNTGVYILTSNTSQYDTYCFNASAPPEEDCTSVTDLPNAFDGPITITIVNRDGTRYVQKGEYRTNPEDIYPSNPTDDDVSSGSSSERSSTSGGYIFYTFSTVHPIPDEDSPWITDSTDRIPATTLMSTSATATETATKRQETWDWFSWLFLPSESKNHLHTTTQMAGTSSNTISAGWEPNEENEDERDRHLSFSGSGIDDDEDFISSTISTTPRAFDHTKQNQDWTQWNPSHSNPEVLLQTTTRMTDVDRNGTTAYEGNWNPEAHPPLIHHEHHEEEETPHSTSTIQATPSSTTEETATQKEQWFGNRWHEGYRQTPKEDSHSTTGTAAASAHTSHPMQGRTTPSPEDSSWTDFFNPISHPMGRGHQAGRRMDMDSSHSITLQPTANPNTGLVEDLDRTGPLSMTTQQSNSQSFSTSHEGLEEDKDHPTTSTLTSSNRNDVTGGRRDPNHSEGSTTLLEGYTSHYPHTKESRTFIPVTSAKTGSFGVTAVTVGDSNSNVNRSLSGDQDTFHPSGGSHTTHGSESDGHSHGSQEGGANTTSGPIRTPQIP|edacfpfafhndskfpeaspamqnwtwmkl?tivlsk 13BR009 ENSG00000055609.18 ENSG00000178234.13 -/- +/- chr7:152435626 chr7:152101383 CDS/splice-site intron deletion/read-through/5'-5' 8 5 1 22 38 high out-of-frame . . . . ENSG00000055609.18 ENSG00000178234.13 ENST00000262189.11 . upstream downstream . ^(GGTGCGCGCGCCCGCGCCGATGTGTGTGAGTGCGTGTCCTGCTCGCTCCATGTTGCCGCCTCTCCCGGTACCTGCTGCTGCTCCCGGGGCTGCGGGAAATGCGAGAGGCTGAGCCGGGGAGGAGGAACCCGAGCAGCAGCGGCGGCGGCGGCGGCCGCGGCGGCGGGAGCCCCCCAGGAGGAGGACCGGGATCCATGTGTCTTTCCTGGTGACTAGGATGT)CGTCGGAGGAGGACAAGAGCGTGGAGCAGCCGCAGCCGCCGCCACCACCCCCCGAGGAGCCTGGAGCCCCGGCCCCGAGCCCCGCAGCCGCAGACAAAAGACCTCGGGGCCGGCCTCGCAAAGATGGCGCTTCCCCTTTCCAGAGAGCCAGAAAGAA|GGCTCAAGACGGCGTGTAGCAAACAGAAGGTGCTCAACAAATGTCTGTCTGTGGAATGACTGACCACATGCACGAAAAGCCTTTGATGGAAAAAAAACAATGAAAGAGAAAAGTGAAATGAGAGTAAAATTCTTCACTGATGTTAATTCCTATTTGCCATGAATCCAA MSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKk|aqdgv* 13BR009 ENSG00000106571.14 ENSG00000224116.7(166752),ENSG00000106571.14(14809) -/- ./- chr7:42148226 chr7:41946140 CDS/splice-site intergenic deletion/read-through 5 6 1 25 13 high out-of-frame . . . . ENSG00000106571.14 . ENST00000395925.8 . upstream downstream . ^(ACACTCGCACTCGCGCACACCCGCCGCTCCCACTCACCCGCGCCGCTCTCCCGCCTTCCCCGCGCGCCCCGCGGCCGCCCGCGCCGCACCATGCCCGCGGCGGGCGCACCCCGCGCCCAGCCCGGCCGCTCGCGGTAGCCGTAGCCGCCCGCGGCCGCGCGGAGCGGGGAGCCGCCAGCCTGCGCCCCGTCCGCGGGTCTATGGGAAGTTCGGGGACTTGACAGCCGCTGCCGCCGCAG___GGCATTTTTGGTCGAAGAGAGCTGAAGTAATGAGAAGACATCATGGAGGCCCAGTCCCACAGCTCCACGACCACTGAAAAGAAAAAAGTTGAGAATTCCATAGTGAAGTGCTCCACTCGAACAGATGTGAGCGAGAAAGCCGTTGCCTCCAGCACCACTTCTAATG___AGGA)TGAAAGTCCTGGACAGACTTATCACAGAGAGAGAAGAAACGCAATCACTATGCAGCCACAGAATGTCCAGGGGCTCAGCAAAGTCAGTGAGGAACCTTCAACATCGAGTGACGAGAGGGCCTCATTGATCAAGAAAGAGATCCATGGGTCCCTGCCACACGTGGCGGAGCCCTCTGTGCCGTACCGCGGGACGGTGTTTGCCATGGACCCCAGGAATGGTTACATGGAGCCCCACTACC|AACAATGGCAGGGAAGGATTCTCCCTTCTCTCAAAGACCTACTTGGGATGGCAGGACACAGTGTGAGGCTGCGGACAAGATCACCAGTGTCCAGCACTTTCTCATCACAGCATGTTGGGGGTCTCTGGCTGCAGAGAGCTTGACGTCATAGTTAGGACATTTTTTGGTGGCAAGGAACAGAGGCCAATTCAAGGTAGCCAG___AGGATGAAGCGAGAAAGTCCTT MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITMQPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHY|qqwqgrilpslkdllgmaghsvrlrtrspvsstfssqhvgglwlqra* 13BR009 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 2 0 84 39 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAA)GCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAgGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 13BR009 ENSG00000255808.1 ENSG00000180209.12 +/+ +/+ chr11:72643518 chr16:30374822 exon/splice-site 5'UTR translocation 1 4 2 2 13 high . . |EF-hand_domain(100%) . . ENSG00000255808.1 ENSG00000180209.12 ENST00000540912.1 ENST00000322861.12 downstream upstream . ^(AGTTGCCGGCTGCCCGGAGGGGCCGCGTCCGGGGATTC)AGCGGGTCACCGGGGTCAGCTCCCTGCCCGGACCGACCCGGTTCTTAGGCCTCTGCTTGGCATGAAAGCGGTTGGGGCGGCAGGACGTGTCTGGACTGGAGGGTGCGCTTGGGTCTCGCTAGGCCTTTGCCAGCGACTTGCCGCATGACCTTGCTCGGATCCCCTCCCCCCACTTCCTGGGCCTCAGTTTTCTCATCTCCCTCACAGGACGGCCAGGAGGACCAAACCCGGGAATGGCGGGAAG|CCGGAGCCGCTGCCTTGCCCCCCGGAGACTGAAGACATG___GCACCCAAGAGGGCCAAGAGAAGGACAGTAGAGGGCGGAAGCTCCAGCGTCTTCTCCATGTTCGACCAGACTCAGATCCAGGAGTTCAAAGAG___GCCTTCACTGTGATCGACCAG(AACCGTGATGGTATTATAGACAAGGAGGACCTTCGGGACACCTTCGCAGCCATGG___GCCGCCTCAATGTGAAGAATGAGGAGTTGGATGCCATGATGAAGGAAGCCAGCGGTCCCATCAACTTCACCGTCTTCCTGACCATGTTCGGGGAGAAGCTCAAGG___GTGCCGACCCTGAGGATGTGATCACCGGAGCCTTCAAGGTCTTGGACCCTGAGGGAAAGGGCACCATCAAGAAGAAGTT___CCTGGAGGAGCTGCTGACCACGCAGTGTGACCGCTTCTCCCAGGAGGAG___ATCAAGAACATGTGGGCGGCCTTCCCCCCCGACGTGGGCGGCAACGTCGACTACAAAAACATCTGCTACGTCATCACGCACGGCGACGCCAAGGACCAGGAGTAGGGGCACCCGCGGGCCTCCGCTGCCCGACGCTTCTGTTCGGCCCGACCTCCACCCCGGCTCCCAATAAAATTTAACTGATCTTTGTTTCTTA)$ . 13BR009 ENSG00000141510.17 ENSG00000166546.14 -/- +/+ chr17:7687377 chr16:66492962 5'UTR/splice-site CDS/splice-site translocation 2 4 0 37 11 high out-of-frame . . . . ENSG00000141510.17 ENSG00000166546.14 ENST00000617185.4 ENST00000561796.5 upstream upstream duplicates(1) ^(GATGGGATTGGGGTTTTCCCCTCCCATGTGCTCAAGACTGGCGCTAAAAGTTTTGAGCTTCTCAAAAGTCTAGA)GCCACCGTCCAGGGAGCAGGTAGCTGCTGGGCTCCGGGGACACTTTGCGTTCGGGCTGGGAGCGTGCTTTCCACGACGGTGACACGCTTCCCTGGATTGG|ATGTACACTGGGAGCTTTACCTACTGGGTGCGATCTATGCTTTCCAGACACAAACTGGACGCCATCCTGGGCAGGCTGGGCTACACGGCCACCTTGGAGTCTGAGTTCTCACTGGTCCAGGCCATCAGCAAAGAGAATGTCAAGCAGATGGTGTTCAAGATCTTCCTGGTGAGGGTCTCATGTGAAGCCGTTCTCAGAAC(CGCGGGCACACGGATGCTTGAGCCGGGCACAGAGAAACTCGCTAGGACCCACAGCAGGCACAGCTCAGAGAAAAGGCTGGTGAAGCCCTGCAGCTGCCTCGAGGGGGTTCAGCCAGGCCCAGGTTCCGGGGGACCACAGCAAGGTCCCTCAGAAGGGGTGGGGTCCGAGACGGCCCTGGCAGAGGGCACTGCTGGCCAGAGATCTCTGCCCATGGCTCTGAGCCCATCTGAGGTCTCAACAGCCCCCAACAGCCTCCCCAGTGGCTCTCCAGTCCTCTAGGGCCCCCAGTGCCATGGCAGCACATGCCTGGACAGTGAGGAGGTCCTGCCTTGCTTCAGTGACCCTGTCTTACACTGGATGCCCTGGT)$ 13BR009 ENSG00000244005.13 ENSG00000101442.10(11358),ENSG00000101445.10(21819) -/- ./+ chr20:35696377 chr20:38783878 CDS/splice-site intergenic inversion 1 4 0 73 8 high out-of-frame . Aminotransferase_class-V(100%)| . . ENSG00000244005.13 . ENST00000374092.9 . upstream upstream . ^(ACTTCCGGGAGCCTGGGGCCCAGGACTGCAGCGGCTTCGGAAGGTGGGCTCTGCCAGCGGGACCATGCTGCTCCGAGCCGCTTGGAGGCGGGCGGCAGTGGCGGTGACAGCGGCTCCAGGGCCGAAGCCCGCGGCGCCCACTCGGGGGCTGCGCCTGCGCG___TTGGAGACCGTGCTCCTCAGTCTGCGGTTCCCGCAGATACAGCCGCTGCCCCGGAGGTGGGGCCAGTGCTGCGACCTCTCTATATGGATGTGCAAGCTACAACTCCTCTG___GACCCCCGGGTGCTTGATGCCATGCTCCCTTACCTAATCAACTACTATGGGAACCCACACTCCCGGACACATGCTTATGGCTGGGAG)AGTGAGGCAGCCATGGAACGTGCTCGTCAG___CAAGTAGCATCTCTGATTGGAGCTGATCCTCGTGAGATCATTTTTACTAGTGGTGCTACTGAATCCAACAACATAGCAATTAAG|GCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCTCACCTCGGCCTCCTGAGTAGCTGGGATTACAG___AACTTTTCTTGATTTCCCTGCATGATCTTTGGAATCAGCTTGTCAAGATCCAAAATAATCCTGTTGGTATGTTTGTTTGTATCCCATTAAAATTATA MLLRAAWRRAAVAVTAAPGPKPAAPTRGLRLRVGDRAPQSAVPADTAAAPEVGPVLRPLYMDVQATTPLDPRVLDAMLPYLINYYGNPHSRTHAYGWESEAAMERARQQVASLIGADPREIIFTSGATESNNIAIK|aglkllgssdpltsas* 13BR009 ENSG00000175564.13 ENSG00000080603.17 -/- +/+ chr11:74003827 chr16:30704064 CDS/splice-site CDS/splice-site translocation 2 2 0 11 32 high out-of-frame . Mitochondrial_carrier_protein(99%)|HSA(100%),Helicase_conserved_C-terminal_domain(100%),SNF2_family_N-terminal_domain(100%) . . ENSG00000175564.13 ENSG00000080603.17 ENST00000314032.9 ENST00000262518.9 upstream upstream . ^(AGAGACAACAGTGAATGACAAGGAGGGGCCATCCAATCCCTGCTGCCACCTCCTGGGATGGAGCCCTAGGGAGCCCCTGTGCTGCCCCTGCCGTGGCAGGACTCACAG___CCCCACCGCTGCACTGAAGCCCAGGGCTGTGGAGCAGCCTCTCTCCTTGGACCTCCTCTCGGCCCTAAAGGGACTGGGCAGAGCCTTCCAGGACTATGGTTGGACTGAAGCCTTCAGACGTGCCTCCCACCATGGCTGTGAAGTTCCTGGGGGCAGGCACAGCAGCCTGTTTTGCTGACCTCGTTACCTTTCCACTGGACACAGCCAAGGTCCGCCTGCAG___ATCCAGGGGGAGAACCAGGCGGTCCAGACGGCCCGGCTCGTGCAGTACCGTGGCGTGCTGGGCACCATCCTGACCATGGTGCGGACTGAGGGTCCCTGCAGCCCCTACAATGGGCTGGTGGCCGGCCTGCAGCGCCAGATGAGCTTCGCCTCCATCCGCATCGGCCTCTATGACTCCGTCAAGCAGGTGTACACCCCCAAAGGCGCGGACA___ACTCCAGCCTCACTACCCGGATTTTGGCCGGCTGCACCACAGGAGCCATGGCGGTGACCTGTGCCCAGCCCACAGATGTGGTGAAGGTCCGATTTCAGGCCAGCATACACCTCGGGCCATCCAGGAGCGACAGAAAATACAGCGGGACTATGGACGCCTACAGAACCATCGCCAGGGAGGAAGGAGTCAGGGGCCTGTGGAAAG___GAACTTTGCCCAACATCATGAGGAATGCTATCGTCAACTGTGCTGAGGTGGTGACCTACGACATCCTCAAGGAGAAGCTGCTGGACTAC)CACCTGCTCACTG___ACAACTTCCCCTGCCACTTTGTCTCTGCCTTTGGAGCCGGCTTCTGTGCCACAGTGGTGGCCTCCCCGGTGGACGTGGTGAAGACCCGGTATATGAACTCACCTCCAGGCCAGTACTTCAGCCCCCTCGACTGTATGATAAAGATGGTGGCCCAGGAGGGCCCCACAGCCTTCTACAAGGG|ATGGTGTCGGACGGCATGACAGGCAGCAATCCTGTGTCCCCTGCCTCATCCAGTTCCCCAGCCTCTAGTGGGGCAGGCGGCATCTCCCCGCAGCACATAGCTCAAGATTCCTCACTGGATGGACC(TCCAGGCCCCCCAGATGGTGCCACAGTGCCCCTGGAGGGGTTCAGCTTATCCCAGGCTGCTGACCTGGCTAACAAGGGCCCGAAGTGGGAGAAGAGCCATGCCGAAATTGCAGAACAGGCCAAGCAT___GAGGCCGAGATCGAGACTCGGATTGCTGAGCTGCGGAAGGAGGGTTTCTGGTCACTGAAGAGGCTGCCTAAGGTGCCAGAGCCCCCTCGCCCCAAAGGTCACTGGGACTATTTGTGCGAAGAGATGCAGTGGCTCTCTGCTGACTTTGCTCAGGAGCGCCGTTGGAAACGGGGTGTGGCCCGGAAG___GTGGTGCGCATGGTGATCCGGCACCACGAGGAGCAGCGGCAGAAAGAGGAACGGGCCCGGAGGGAGGAGCAGGCCAAGCTGCGTCGAATTGCTTCCACCATGGCCAAGGATGTCAGGCAGTTCTGGAGCAATGTGGAGAAG___GTGGTGCAATTCAAGCAACAGTCCCGGCTTGAGGAAAAGCGCAAAAAAGCCCTGGACCTGCATTTGGACTTCATTGTGGGGCAAACTGAAAAGTACTCGGACCTTCTGTCTCAGAGCCTCAACCAGCCATTAACCTCCAGCAAAGCAGGCTCTTCCCCTTGCCTCGGCTCTTCCTCAGCTGCCTCCAGTCCTCCACCCCCTGCTTCTCGCCTGGATGATGAAG___ATGGGGACTTTCAACCCCAAGAGGATGAGGAAGAGGATGATGAGGAAACGATTGAAGTTGAAGAACAACAGGAAGGCAATGATGCAGAGGCCCAGAGGCGTGAGATTGAGCTGCTTCGCCGTGAGGGAGAATTGCCACTGGAAGAGCTGCTCCGTTCCCTTCCCCCTCAGCTGTTGGAAGGGCCTTCCAGCCCCTCTCAAACCCCCTCATCTCATGATAGTGACACCCGAGATGGGCCTGAAGAAGGTGCTGAAGAAGAGCCCCCTCAGGTGTTGGAG___ATAAAGCCCCCACCCTCTGCTGTCACACAGCGCAACAAACAGCCTTGGCATCCAGATGAAGATGATGAAGAGTTTACTGCCAACGAAGAGGAAG___CGGAGGATGAAGAGGATACTATAGCAGCTGAGGAACAGTTGGAAGGGGAGGTGGATCATGCCATGGAGCTGAGCGAGTTGGCTCGAGAAG___GTGAGCTTTCCATGGAGGAGCTATTGCAGCAGTATGCAGGAGCCTATGCCCCAGGCTCTGGGAGCAGTGAAGATGAGGATGAAGATGAGGTTGATGCTAATAGCTCTGACTGTGAACCAGAGGGGCCCGTGGAAGCGGAAGAGCCTCCTCAGGAGGATAGTAGCAGTCAGTCAG___ACTCTGTGGAGGACCGGAGTGAGGATGAGGAAGATGAACATTCAGAGGAGGAAGAAACAAGTGGAAGTTCAGCATCAGAGGAATCTGAGTCTGAAGAGTCTGAGGATGCCCAATCACAGAGCCAAGCAGATGAAGAGGAGGAAGATGATGATTTTGGGGTGGAGTACTTGCTTGCCAGGGATGAAGAGCAGAGTGAGGCAGATGCAGGCAGTGGGCCTCCTACTCCAGGGCCCACTACTCTAGGTCCAAAGAAAGAAATTACTGACATTGCTGCAGCAGCTGAAAGTCTCCAGCCCAAGGGTTACACGCTGGCCACGACCCAG___GTAAAGACGCCCATTCCCCTGCTTCTGCGGGGCCAGCTCCGGGAGTACCAGCACATTGGGCTAGACTGGCTGGTTACCATGTATGAGAAGAAGCTTAATGGCATTCTTGCTGATGAGATGGGGCTTGGGAAGACCATCCAGACCATCTCTCTGCTTGCCCACTTGGCTTGTGAGAAAG___GTAACTGGGGTCCCCATTTAATCATTGTTCCCACCAGCGTGATGTTGAACTGGGAGATGGAGTTGAAACGGTGGTGCCCCAGCTTTAAAATCCTCACTTACTATGGAGCCCAGAAAGAGAGGAAGCTCAAGCGGCAG___GGCTGGACCAAGCCCAATGCCTTTCATGTGTGTATCACATCTTACAAGCTGGTGCTGCAGGACCACCAGGCCTTCCGTCGCAAGAACTGGCGCTATCTCATTCTGGATGAGGCGCAGAACATCAAGAACTTCAAGTCACAGCGCTGGCAGTCACTCCTCAACTTCAACAG___CCAGAGACGCCTGCTCCTGACAGGAACTCCCTTGCAGAACAGCCTCATGGAGCTGTGGTCCTTGATGCACTTTTTGATGCCCCATGTCTTCCAGTCTCATCGCGAGTTCAAGGAGTGGTTCTCTAATCCCCTAACTGGCATGATTGAGGGCAGCCAAGAGTATAATGAAGGTCTAGTCAAACGCCTCCACAAG___GTTTTGAGGCCTTTTTTACTGCGCCGAGTTAAGGTGGATGTTGAGAAGCAGATGCCCAAAAAGTACGAGCATGTTATCCGCTGCAGGCTCTCCAAGCGTCAACGCTGTCTCTATGATGACTTCATGGCACAGACCAC___AACTAAGGAGACACTAGCCACAGGCCATTTCATGAGCGTCATCAACATTTTGATGCAGCTGAGAAAAGTTTGCAATCATCCAAATCTGTTCGACCCTCGACCGGTTACCTCCCCTTTCATCACCCCAGGCATCTGCTTCAGCACCGCCTCTCTGGTGCTAAGGGCCACGGATGTCCATCCCCTCCAG___CGGATAGACATGGGTCGATTTGACCTTATTGGCCTGGAAGGTCGTGTCTCTCGATATGAGGCAGACACATTTCTGCCCCGGCACCGCCTCTCTCGCCGGGTACTGTTAGAAGTGGCTACTGCTCCTGACCCCCCACCCCGGCCCAAGCCAGTCAAGATGAAGGTCAACAG___GATGCTGCAGCCAGTACCTAAGCAAGAAGGCCGGACAGTGGTGGTGGTGAACAACCCACGGGCGCCCCTGGGCCCTGTCCCAGTTCGACCTCCTCCAGGTCCTGAGCTCTCAGCCCAGCCCACCCCTGGCCCAGTCCCCCAAGTGCTGCCAGCATCACTGATGGTTTCAGCCTCACCTGCCGGGCCCCCGCTTATTCCTGCATCTCGGCCTCCTGGCCCTGTCCTCTTGCCTCCACTGCAGCCCAACAGTGGTTCTCTCCCCCAGG___TGTTGCCATCCCCCCTGGGGGTCCTGAGTGGGACCTCACGGCCTCCCACGCCAACCTTGTCCCTAAAGCCAACACCACCTGCCCCAGTTCGCCTGAGCCCAGCCCCACCTCCAGGCTCCTCTAGCCTGTTGAAGCCCCTGACAGTGCCACCAGGCTACACCTTCCCTCCTGCTGCTGCCACCACCACTTCTACCACCACGGCAACTGCTACCACCACAGCAGTGCCAGCTCCGACTCCTGCACCACAGCGCCTCATTCTATCTCCCGATATGCAGGCTCGCCTGCCCT___CAGGCGAAGTGGTCAGCATCGGGCAGTTAGCCTCACTGGCACAACGTCCAGTGGCTAATGCAGGGGGAAGCAAACCTCTCACCTTCCAAATCCAGGGCAACAAGCTGACTTTGACTGGTGCCCAGGTGCGCCAGCTTGCTGTGGGGCAGCCCCGCCCGCTGCAAA___GGAATGTGGTGCACCTCGTGTCAGCAGGGGGGCAGCACCATCTCATCAGCCAGCCTGCCCATGTGGCCCTCATCCAGGCCGTGGCCCCGACCCCTGGCCCTACCCCTGTCTCTGTGCTGCCTTCTTCGACCCCCAGCACCACCCCTGCCCCTACTGGCCTCAGCCTTCCGCTTGCTGCTAACCAGG___TGCCACCAACCATGGTGAATAATACAGGCGTGGTGAAGATTGTAGTGAGACAAGCCCCTCGGGATGGACTGACTCCTGTTCCTCCATTGGCCCCAGCACCCCGGCCTCCGAGCTCTGGGCTTCCAGCTGTGTTGAATCCACGCCCCACGTTAACCCCTGGCCGGCTACCCACACCTACTCTGGGTACTGCTCGAGCCCCCATGCCCACACCCACTCTGGTGAGGCCTCTTCTCAAGCTGGTCCACAGTCCTTCACCTGAAGTCAGTG___CTTCAGCCCCCGGAGCTGCCCCCTTGACCATCTCTTCTCCTCTCCACGTGCCATCCTCCCTCCCTGGGCCAGCCTCTTCTCCAATGCCAATTCCCAACTCCTCTCCCCTTGCTAGTCCTGTGTCCTCTACAGTCTCAGTTCCATTGTCATCTTCACTCCCCATCTCTGTCCCCACCACACTTCCTGCCCCAGCCTCGGCTCCACTCACCATCCCCATCTCAGCCCCCTTGACTGTTTCTGCTTCGGGCCCAGCTCTGTTGACCAGTGTGACTCCACCATTGGCACCTGTTGTCCCAGCGGCTCCTGGACCTCCCTCCTTGGCACCATCTGGTGCTTCCCCGTCAGCATCAGCCTTGACTCTAGGTTTGGCCACAGCTCCATCCCTGTCTTCATCTCAGACACCTGGTCACCCTCTGTTGTTGGCTCCCACCTCTTCACATGTTCCAGGGTTGAACTCAACCGTGGCCCCAGCATGCTCACCTGTCCTGGTGCCAGCTTCGGCTCTGGCCAGTCCTTTTCCGTCAGCACCAAATCCAGCTCCAGCTCAGGCTTCCCTTCTGGCTCCAGCATCTTCTGCATCTCAGGCTCTAGCCACCCCTCTGGCTCCTATGGCGGCTCCACAGACAGCAATTCTGGCTCCTTCTCCAGCTCCTCCTCTGGCTCCTCTTCCGGTCCTGGCACCATCGCCAGGTGCTGCTCCTGTCCTGGCTTCATCACAGACTCCGGTTCCAGTTATGGCTCCATCGTCTACTCCAGGAACCTCTTTAGCCTCAGCTTCACCGGTACCAGCTCCAACCCCTGTGTTGGCTCCATCATCAACTCAAACTATGCTACCAGCCCCGGTTCCGTCACCTCTCCCGAGCCCGGCTTCTACGCAGACACTGGCCCTAGCCCCAGCTTTAGCACCCACTCTTGGAGGCTCATCTCCATCTCAGACACTCTCTTTGGGAACGGGGAACCCCCAGGGACCCTTTCCAACTCAGACATTGTCATTAACTCCAGCATCATCCCTGGTACCAACTCCAGCCCAGACACTGTCTTTGGCACCAGGACCACCACTGGGTCCAACTCAGACGCTGTCTCTGGCTCCAGCACCCCCTCTGGCTCCAGCTTCTCCAGTGGGCCCAGCCCCAGCTCACACGCTGACTTTGGCTCCAGCATCGTCATCTGCTTCACTCCTGGCCCCAGCTTCAGTGCAGACACTGACCTTGAGCCCTGCCCCAGTTCCTACCCTGGGCCCGGCCGCAGCTCAGACCTTGGCGCTGGCCCCAGCCTCCACACAGTCCCCAGCTTCCCAGGCATCTTCCCTTGTGGTTTCGGCATCTGGTGCCGCTCCCTTGCCTGTCACCATGGTATCCCGGCTGCCTGTTTCCAAGGATGAGCCTGACACACTGACATTGCGCTCTGGTCCCCCCAGCCCTCCCTCCACTGCTACCTCGTTTGGTGGCCCCCGGCCTCGACGCCAGCCCCCCCCACCACCTCGTTCCCCTTTTTATCTG___GACTCCCTGGAGGAAAAGCGGAAGCGGCAGCGGTCTGAACGCCTGGAACGGATTTTCCAACTTAGTGAGGCTCATGGGGCCCTGGCACCTGTGTATGGGACTGAAGTCCTGGATTTCTGTACCCTGCCCCAACCTGTTGCCAGCCCCATCGGCCCTCGTTCTCCTGGCCCCAGCCACCCCACCTTTTGGACTTATACCGAGGCTGCCCACCGGGCTGTACTGTTTCCCCAGCAGCGACTAGACCAGCTGTCAGAAATCATTGAGAG___GTTCATCTTTGTCATGCCTCCTGTGGAGGCACCTCCCCCTTCCCTGCATGCCTGCCACCCACCTCCTTGGCTGGCCCCACGTCAGGCAGCCTTCCAGGAGCAATTGGCCTCTGAGCTCTGGCCCCGGGCTCGTCCTTTGCACCGTATTGTGTGTAACATGCGCACCCAGTTCCCTGACTTAAGACTCATCCAGTATGATTGCG___GAAAGTTGCAGACGTTGGCAGTGCTGTTGCGGCAGCTCAAGGCAGAGGGCCACCGAGTGCTCATCTTCACCCAGATGACCCGAATGCTGGATGTATTGGAGCAGTTTCTCACCTACCATGGCCATCTCTACCTGCGCCTGGATGGATCTACTAGAGTTGAACAGAGACAG___GCCTTGATGGAACGGTTCAATGCAGACAAACGCATATTCTGCTTCATCCTTTCAACTCGGAGTGGGGGTGTGGGCGTGAACCTGACAGGAGCAGACACTGTTGTTTTTTATGACAGCGACTGGAATCCCACCATGGATGCTCAGGCCCAGGACCGCTGTCACCGAATTGGCCAGACCCGGGATGTCCACATATATAG___GCTTATCAGTGAACGGACAGTGGAGGAGAACATCCTAAAAAAGGCAAATCAGAAGAGAATGTTGGGGGACATGGCCATTGAGGGAGGCAACTTCACCACAGCCTATTTCAAACAG___CAGACCATCCGAGAGCTGTTTGATATGCCCCTGGAGGAACCTTCTAGCTCATCCGTGCCCTCTGCCCCTGAAGAGGAGGAAGAGACTGTGGCCAGCAAGCAGACTCATATTCTGGAGCAG___GCATTGTGTCGGGCAGAAGATGAAGAGGATATCCGTGCAGCCACCCAGGCCAAGGCTGAACAGGTGGCTGAGCTTGCAGAATTTAATGAGAACGATGGGTTTCCTGCTGGTGAGGGAGAGGAAGCTGGCCGGCCTGGGGCTGAGGATGAGGAGATGTCCCGGGCTGAGCAGGAAATTGCTGCCCTCGTAGAACAG___CTGACCCCCATTGAGCGCTATGCCATGAAATTCCTGGAGGCCTCACTGGAGGAGGTGAGCCGAGAGGAGCTCAAACAGGCAGAA___GAGCAAGTGGAAGCTGCCCGCAAAGACCTGGACCAAGCCAAGGAGGAGGTGTTCCGCCTACCCCAAGAGGAGGAGGAGGGGCCGGGGGCTGGGGATGAGAGTTCCTGTGGGACTGGTGGAGGCACCCACCGGCGCAGTAAAAAGGCCAAAGCCCCTGAGAGGCCGGGGACTCGTGTCAGTGAGCGTCTTCGTGGAGCCCGGGCTGAGACTCAAGGGGCAAACCACACTCCTGTCATATCCGCCCATCAAACTCGCAGCACCACCACACCACCCCGCTGCAGTCCTGCCAGGGAGCGAGTTCCCAGGCCAGCACCTAGGCCTCGACCCACTCCAGCTTCAGCTCCGGCTGCAATTCCTGCCCTTGTTCCTGTCCCAGTTTCTGCCCCAGTACCCATTTCAGCCCCAAATCCAATAACCATTCTCCCTGTCCATATCTTGCCTTCTCCTCCCCCTCCTTCACAGATTCCTCCTTGTTCTTCTCCTGCCTGCACCCCTCCTCCTGCCTGTACCCCTCCACCAGCTCATACACCGCCTCCAGCCCAAACCTGTCTTGTAACTCCTTCCTCTCCTCTCTTGCTTGGTCCACCTTCTGTGCCCATCTCTGCCTCAGTCACTAATCTCCCCTTGGGCTTGAGGCCTGAGGCAGAGCTGTGTGCCCAGGCATTGGCATCTCCAGAGTCCCTGGAGCTGGCTTCTGTGGCCAGTTCAGAAACCTCCTCACTTTCTCTTGTGCCCCCTAAAGATCTGTTGCCAGTTGCTGTGGAGATCCTGCCTGTGTCAGAGAAGAACCTTTCTCTCACCCCTTCTGCACCCAGCCTGACCTTGGAGGCTGGCAGCATCCCCAATGGTCAAGAGCAGGAGGCACCAGATTCTGCTGAGGGGACCACCCTTACAGTGCTGCCTGAAGGTGAGGAGTTGCCCCTGTGTGTGAGTGAGAGCAATGGCCTGGAGCTCCCACCCTCAGCAGCATCTGATGAGCCACTTCAGGAGCCACTGGAGGCTGACAGGACCTCGGAAGAGCTGACAGAGGCCAAGACCCCAACCTCCAGCCCAGAGAAGCCACAGGAACTCGTTACAGCTGAGGTTGCAGCTCCATCCACCTCATCTTCAGCCACTTCCTCGCCTGAGGGTCCTTCACCTGCCCGACCTCCTCGGCGTCGCACCAGTGCTGATGTGGAAATTAGGGGTCAAGGGACTGGTCGGCCAGGACAACCACCAGGCCCCAAAGTGCTTCGAAAGCTGCCAGGACGGCTGGTAACTGTGGTAGAGGAAAAGGAACTGGTGCGGCGGCGGCGGCAGCAGCGGGGAGCTGCCAGCACCCTAGTGCCTGGGGTCTCTGAGACTAGTGCCAGCCCGGGAAGCCCGTCTGTCCGCAGCATGTCAGGGCCAGAATCCTCCCCTCCCATTGGTGGGCCCTGTGAAGCTGCTCCTTCATCCTCACTGCCCACTCCACCCCAGCAGCCCTTCATTGCTCGCCGTCACATTGAGCTGGGGGTGACTGGTGGTGGCAGCCCCGAGAATGGAGACGGAGCACTGCTCGCCATCACCCCACCTGCTGTGAAACGTCGGAGGGGGAGGCCCCCCAAGAAGAACAGGTCTCCAGCAGATGCTGGGAGAGGTGTGGATGAGGCACCCTCATCCACCTTGAAGGGAAAAACCAATGGGGCTGACCCAGTCCCTGGGCCTGAGACCCTAATTGTTGCAGATCCTGTCCTGGAACCACAGCTTATTCCTGGGCCCCAGCCTCTTGGACCCCAGCCAGTTCACAGACCCAATCCCCTCCTGTCACCTGTGGAGAAAAGAAGGCGAGGACGACCCCCTAAAGCACGAGATTTGCCCATCCCTGGGACCATTTCCTCTGCAGGGGATGGCAACTCCGAAAGTCGGACACAGCCACCCCCACACCCATCACCCCTAACCCCACTCCCACCACTGCTAGTTTGTCCCACTGCTACTGTTGCCAACACTGTCACCACTGTCACCATTTCAACGTCCCCACCCAAACGGAAGAGGGGCCGACCTCCCAAGAATCCTCCATCACCTCGGCCCAGCCAGCTCCCCGTCTTGGACCGTGACAGCACTTCTGTTCTCGAGAGCTGTGGATTGGGGAGGCGACGGCAACCCCAGGGCCAAGGGGAGAGTGAGGGTAGTTCCTCTGATGAGGATGGAAGCCGCCCCCTCACCCGCCTGGCCCGCCTTCGGCTTGAAGCAGAAGGAATGCGAGGACGGAAGAGTGGAGGGTCCATGGTGGTGGCTGTAATTCAGGATGACCTGGACTTAGCAGATAGCGGGCCAGGCGGGTTGGAATTGACACCACCTGTGGTCTCACTAACCCCAAAACTGCGCTCGACCCGGCTGCGTCCAGGGTCTCTAGTCCCCCCACTAGAGACTGAGAAGTTGCCTCGCAAACGAGCAGGGGCCCCAGTTGGTGGGAGTCCTGGGCTGGCAAAGCGGGGCCGCCTACAGCCCCCAAGTCCCCTGGGGCCTGAGGGTTCAGTAGAGGAGTCTGAGGCTGAAGCCTCAGGTGAGGAGGAGGAAGGGGATGGGACCCCACGCCGACGTCCTGGCCCCCGCCGGCTTGTTGGGACCACCAACCAAGGGGACCAGCGCATCCTGCGCAGCAGCGCCCCTCCCTCCCTGGCTGGCCCTGCTGTTAGTCACAGAGGCCGCAAGGCCAAGACGTGAGTGGGCTGCCCCTCCACCTAGGCTTTCCACCGTGGCCACTCCCTCCATGACCAGGCCTGACTCTGTTAACCACTACTTGAAGTCTTGAGGGGGAAAGCCTCCAGGGAGACATAGGGGCCTTCTCCCTTCTTCCCACCAAAGTAGGGGGTAGGCAACTGGTTGTCATGGAAATGGGGATCATCACAGTCCCCTTCCCCTTCACCCCACGTGGCTGGGCAGTGTTAAGGGTGGCAAGATAGTCTCTGTCCCCACCCCCTTGTACTTGATTCCCCAGCTGTCTTTCACACAGCCCCCCACCCTTAGGGGAAGGGGGAGGGGCTTCTCTACAATGAGGTTTTTTTCTTTTTTTTTTTTTTTTAAGAAGAAAAAATAATAAACTTAGTTTCTGTATGAGCATCCGCGTAAGGAGGCTTCTGATTTTCTGGTCTGGTGGAGGGTTGGGTGGGAACTTGGGCATCGTTTTTCTCCTCCCTCTTGTTCTTGCAAAGATCCTAGCACCTGATCTCTAGCCCAGGACTATATGTTCCAGGCAGAAATCTACCCAAGAAGAGGGAAGATTGGTGAATTTGATGTGGTAGGGTGCCTTTCCCCAGTCAGTTTGAAGTCACAGATATCCTTTTCCTCTCATTTCTTTTCCCTCGGTTCCTAGACGTTCCTCGGAGCTCTTTGATGCCTCAGACCTTTCCCTTTTATCCCTCTTGCTCAGGTGCTTCCTTTCACAACTTTTTCCAGAGGGCAGGCGTCCTAGCTCCAGTTGCTCCATCCCTTGGGCCCTCCCCTGCTCTTCATCTAGCCAAACTGGTTTGAGTCAGCCACACCCCTTCCCAGCTCCCTGGGCTCTTCACGTGGTGGCTGGCCACTCAACCCCACCCCTGGGCTTGGCTTGGAGCCCTGAGTCAGCTCCATCACCACCCAAGCCAAACCAAAGCTGAGGCAGGAGCCGAAACTCAGAGTCCTTCAAGGCCTATAGCCAGGTAAGAGCCCTGTTCATTTTTACATTCTCTGTTCACTCCCTGGGCCCTCCTTGTGTCCTCCTGTTGACTCTGTGCTTACCTCATCTGAGTTATTTCTTTGTATCTACTTCCCTGCAGCTTCTTGGCACACATCATTCTTTGCTCTCTACTTGTCTCGCCCCTTTCACCTTTCCTATCCTTCGTTACTTGGGTTCAGGGAGCCAAGGTGGTTTCATTTTGTCTGGGTTGTAGGGGAATGGTTGGAGATAAGGGTAGAAAGGTGGTTTGATGCCAGGGCCTAGAGGACCTGAGAAGTAGGGAGACAAGAAATGATTAAGTAGGGCATCATTTTGCAGGTTTCTGTGTGGTAATGAGGTCATTTAGACTCAGTGTACTAGTCTGATTGTGTTATGTGGCCTGGGTTAAATTGGAGAGAGGAGGTGGCAGGGAGGCAGCATAGCAGAGGAAGCCCTGACTTAGGGAAGTAAAGTCTTTCTGATGTTTGGTTTTAGTGGTAATAAAGGGCTTACTTGGGTACATTTTCCTTACCTTTCTCCATTCCCATAACTGTTTTCATGTAAAATGGCTGCTTTGCTTGAAACGGGTTGCAGTACCTAGGGTCCTGCTCTCTGACATCTATAATACTCAGGGGGCAGCCTCTTGGGAATTTGGGGGAATTGTAGAGTCCTTTGAAATACAGATTAAAATAACAGATTCATAGCA)$ MVGLKPSDVPPTMAVKFLGAGTAACFADLVTFPLDTAKVRLQIQGENQAVQTARLVQYRGVLGTILTMVRTEGPCSPYNGLVAGLQRQMSFASIRIGLYDSVKQVYTPKGADNSSLTTRILAGCTTGAMAVTCAQPTDVVKVRFQASIHLGPSRSDRKYSGTMDAYRTIAREEGVRGLWKGTLPNIMRNAIVNCAEVVTYDILKEKLLDYHLLTDNFPCHFVSAFGAGFCATVVASPVDVVKTRYMNSPPGQYFSPLDCMIKMVAQEGPTAFYKg|wcrta* 13BR009 ENSG00000197608.11 ENSG00000213967.11 -/- +/+ chr19:52095575 chr19:23914948 5'UTR/splice-site 5'UTR inversion 1 1 0 37 6 high . . |C2H2-type_zinc_finger(100%),KRAB_box(100%),Zinc_finger__C2H2_type(100%) . . ENSG00000197608.11 ENSG00000213967.11 ENST00000426391.6 ENST00000334589.9 upstream upstream . ^(ACACCCGGAAGCAGATCGCGCTGGGGAAAG)GCCACGTCGCTATGAGTGTGTTTCAGTCTACCTGGATTAAACGTTTGCTTCTCTTCGTCTACCTTGATTAAACGTGCACTTCGCAGTCCTCGGTTCTCCATACCCGTGACCTGGGGATCGCTACGGACCTTAAAATACCCGCAACAGCCCCTTCGTCCCAA|GGGCGCAGCCTCTGTGGCCCTGTGACCTGCCCCCTGGAAGCCTAGAAATG___GGACTGTTGACATTTAGGGATGTGGCCATAGAATTCTCTCTGGAGGAGTGGCAGTGCCTGGACACTGCACAGAAGAATTTATATAGGAATGTGATGTTAGAGAACTACAGAAACCTGGCCTTCCT(GG___GTATTGCTGTCTCTAAGCCAGACCTCATCATCTGTCTGGAGAAAGAAAAAGAGCCCTGGAATATGAAGCGAGATGAGATGGTGGATGAACCCCCAG___GCCTTGCTGTCTCTAACCCTGATCTGATCTCCTGCCTTGAGCAAATAAAAGAGCCCTGGAATGTGAAGAGACATGAGACAGTAGTCAAATACTCAG___GGTGAAACTGACCTCAGAGTGACTTAGGAAGAATTTCATTTTTGGGAAGAGTTTCAAGAGGATTGTTATTCAAATACATTTGGTAGAATTTGGCTGTGCATTTTTCTAGTCCTAAGCTTTTCTTTGTCAAGACATTTTTAATTACTGACTCAATCATGCTACTCATTATTGGTTTGTTCAGGTACTCTATTTCTTTCTGGCTCTATCTTGGGAGGTTGTATGTTTCCATAAATTTATTTACTCTAAGTTTTCAGGTTTGTGAGTGTCTAGTTGTTTATAATCATTTCTAGTGATCTTTTGTATTACTGTTGTATCCATTGTAATGTCTATTCTTTCATTTCTGATTTTGTTTATTTAGATCTCTCTTCTGTTTGTGATGAATCTAGCTAGCAATTTATCAATTTTGT)$ . 13BR009 ENSG00000184210.6 ENSG00000089289.16 +/- +/- chrX:70199685 chrX:70156004 intron intron deletion/read-through 10 6 2 78 137 medium . . . . . ENSG00000184210.6 ENSG00000089289.16 . . upstream downstream . GTCCAGTTTCGTACCCAAGCTGAACGCCTGCCACCTGTGGGTACAGAAGGGAAGGGAAGAGTACACAGGGCATTGCAGTCCCTCTACCTCTCCCAGAGGAGGAGAGTTCTGCCTGCAGTCCTCAGGTCACGTGAGGGGCCTCCTTCTGACACCTCAGAACT|GCCTCTCTGTTCCTTGAGACACAACAATATTGAAATTGGGCCAATGAATAACCCTACAGTAGCCT___ATCATTCACTTTGGGGAaCGGAAGCTGTTGTGAGCAACCCTATGTGAGCCTCCTGTCCTCAGCTACATCGATGAGCTTGGCAGTGAATTATCTAGTCCCATCCAAGCTTCCAGAAGACTGCAGCCCCAGCTGACAGCTTGACTGCAACCTCATGAATGTTTCTGAGCTAGGACCACCCAGTTGCTTCTGAATTCCTCACCCTCAGAAAC . 13BR009 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 5 4 1 15 20 medium . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismatches(1) GTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCC(ACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 13BR009 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 4 6 0 20 301 medium . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000369458.8 upstream downstream duplicates(1) GGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG___GGAGACACTCCATCACAGTCACTACTGTCGCCTCAGCTGGGAACATTGGGGAGGATGGAATCCTGAGCTGCACTTTTGAACCTGACATCAAACTTTCTGATATCGTGATACAATGGCTGAAGGAAGGTGTTTTAGGCTTGGTCCATGAGTTCAAAGAAGGCAAAGATGAGCTGTC(GGAGCAGGATGAAATGTTCAGAGGCCGGACAGCAGTGTTTGCTGATCAAGTGATAGTTGGCAATGCCTCTTTGCGGCTGAAAAACGTGCAACTCACAGATGCTGGCACCTACAAATGTTATATCATCACTTCTAAAGGCAAGGGGAATGCTAACCTTGAGTATAAAACTGGAG___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACCA)$ . 13BR009 ENSG00000189144.13 ENSG00000189144.13 -/- -/- chr19:37770005 chr19:37783192 CDS/splice-site intron duplication 4 1 0 14 3 medium out-of-frame . KRAB_box(100%)|C2H2-type_zinc_finger(100%),KRAB_box(100%),Zinc_finger__C2H2_type(100%) . . ENSG00000189144.13 ENSG00000189144.13 ENST00000536220.5 . upstream downstream . ^(ACCCAATCTATGGCTTCCCTTCCGTTTTCGCGTGGTTCTTTTGCAAG___CTCTGGATTCTCTGGAGTTTGAATGTTTCCAGTATTGGAACCCCACCAAGTAGGACTGATCAGGTCTTACAATTCTAAAACCATGACCTGT___TTTCAGGAATTAGTGACATTCAGGGATGTGGCCAT)AGACTTCTCTCGGCAGGAGTGGGAATACCTGGACCCTAATCAGAGGGACTTATACAGGGATGTGATGTTGGAGAACTATAGAAACCTGGTATCACTGG___GAGGACATTCCATTTCTAAACCAGTTGTGGTTGATTTACTGGAGCGAGGAAAAGAGCCCTGGATGATTTTGAGGGAAGAAACACAGTTCACAG|GCCCTGTCAAGATATATGTGTGGTACGGCAGGGGTAGGATGGCAGCGGTAGGAGCCCCTAGAGGTAGAAGGGGCTCTGGAATCCTTCATCGTCCTATGTGAAAAAGTTTGTGGCAGTGATTTTTTTTTTTTTTT[t]TGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCC MFPVLEPHQVGLIRSYNSKTMTCFQELVTFRDVAIDFSRQEWEYLDPNQRDLYRDVMLENYRNLVSLGGHSISKPVVVDLLERGKEPWMILREETQFT|gpvkiyvwygrgrmaavgaprgrrgsgilhrpm* 13BR009 ENSG00000189144.13 ENSG00000267422.1 -/- +/- chr19:37770005 chr19:37783192 CDS/splice-site intron duplication/5'-5' 4 1 0 14 3 medium out-of-frame . KRAB_box(100%)| . . ENSG00000189144.13 ENSG00000267422.1 ENST00000536220.5 . upstream downstream . ^(ACCCAATCTATGGCTTCCCTTCCGTTTTCGCGTGGTTCTTTTGCAAG___CTCTGGATTCTCTGGAGTTTGAATGTTTCCAGTATTGGAACCCCACCAAGTAGGACTGATCAGGTCTTACAATTCTAAAACCATGACCTGT___TTTCAGGAATTAGTGACATTCAGGGATGTGGCCAT)AGACTTCTCTCGGCAGGAGTGGGAATACCTGGACCCTAATCAGAGGGACTTATACAGGGATGTGATGTTGGAGAACTATAGAAACCTGGTATCACTGG___GAGGACATTCCATTTCTAAACCAGTTGTGGTTGATTTACTGGAGCGAGGAAAAGAGCCCTGGATGATTTTGAGGGAAGAAACACAGTTCACAG|GCCCTGTCAAGATATATGTGTGGTACGGCAGGGGTAGGATGGCAGCGGTAGGAGCCCCTAGAGGTAGAAGGGGCTCTGGAATCCTTCATCGTCCTATGTGAAAAAGTTTGTGGCAGTGATTTTTTTTTTTTTTT[t]TGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCC MFPVLEPHQVGLIRSYNSKTMTCFQELVTFRDVAIDFSRQEWEYLDPNQRDLYRDVMLENYRNLVSLGGHSISKPVVVDLLERGKEPWMILREETQFT|gpvkiyvwygrgrmaavgaprgrrgsgilhrpm* 13BR009 ENSG00000026508.19 ENSG00000254562.7(158702),ENSG00000285751.1(179606) +/+ ./- chr11:35219387 chr11:38845025 CDS/splice-site intergenic inversion 1 3 1 1512 24 medium out-of-frame . Extracellular_link_domain(100%)| . . ENSG00000026508.19 . ENST00000263398.10 . downstream downstream . ^(GAGAAGAAAGCCAGTGCGTCTCTGGGCGCAGGGGCCAGTGGGGCTCGGAGGCACAGGCACCCCGCGACACTCCAGGTTCCCCGACCCACGTCCCTGGCAGCCCCGATTATTTACAGCCTCAGCAGAGCACGGGGCGGGGGCAGAGGGGCCCGCCCGGGAGGGCTGCTACTTCTTAAAACCTCTGCGGGCTGCTTAGTCACAGCCCCCCTTGCTTGGGTGTGTCCTTCGCTCGCTCCCTCCCTCCGTCTTAGGTCACTGTTTTCAACCTCGAATAAAAACTGCAGCCAACTTCCGAGGCAGCCTCATTGCCCAGCGGACCCCAGCCTCTGCCAGGTTCGGTCCGCCATCCTCGTCCCGTCCTCCGCCGGCCCCTGCCCCGCGCCCAGGGATCCTCCAGCTCCTTTCGCCCGCGCCCTCCGTTCGCTCCGGACACCATGGACAAGTTTTGGTGGCACGCAGCCTGGGGACTCTGCCTCGTGCCGCTGAGCCTGGCGCAGATCG___ATTTGAATATAACCTGCCGCTTTGCAGGTGTATTCCACGTGGAGAAAAATGGTCGCTACAGCATCTCTCGGACGGAGGCCGCTGACCTCTGCAAGGCTTTCAATAGCACCTTGCCCACAATGGCCCAGATGGAGAAAGCTCTGAGCATCGGATTTGAGACCTGCAG___GTATGGGTTCATAGAAGGGCACGTGGTGATTCCCCGGATCCACCCCAACTCCATCTGTGCAGCAAACAACACAGGGGTGTACATCCTCACATCCAACACCTCCCAGTATGACACATATTGCTTCAATGCTTCAG___CTCCACCTGAAGAAGATTGTACATCAGTCACAGACCTGCCCAATGCCTTTGATGGACCAATTACCATAA___CTATTGTTAACCGTGATGGCACCCGCTATGTCCAGAAAGGAGAATACAGAACGAATCCTGAAGACATCTACCCCAGCAACCCTACTGATGATGACGTGAGCAGCGGCTCCTCCAGTGAAAGGAGCAGCACTTCAGGAGGTTACATCTTTTACACCTTTTCTACTGTACACCCCATCCCAGACGAAGACAGTCCCTGGATCACCGACAGCACAGACAGAATCCCTGCTACCA___GAGACCAAGACACATTCCACCCCAGTGGGGGGT)CCCATACCACTCATGGATCTGAATCAGATG___GACACTCACATGGGAGTCAAGAAGGTGGAGCAAACACAACCTCTGGTCCTATAAGGACACCCCAAATTCCAG|AAGATGCCTGCTTCCCCTTTGCCTTCCACAATGATTCTAAGTTTCCTGAGGCCTCCCCAGCCATGCAGAACT___CTGGTGCCCTTTGCTGAAGGATATCTCCTGTGCTCTTCAGTGGCAGAAGCAAAATAAAAACATTTCATaTTATGGAAGCAaTTAGACACACATCTGTTGTTCCAGAACTTCCATATTAAATGC MDKFWWHAAWGLCLVPLSLAQIDLNITCRFAGVFHVEKNGRYSISRTEAADLCKAFNSTLPTMAQMEKALSIGFETCRYGFIEGHVVIPRIHPNSICAANNTGVYILTSNTSQYDTYCFNASAPPEEDCTSVTDLPNAFDGPITITIVNRDGTRYVQKGEYRTNPEDIYPSNPTDDDVSSGSSSERSSTSGGYIFYTFSTVHPIPDEDSPWITDSTDRIPATRDQDTFHPSGGSHTTHGSESDGHSHGSQEGGANTTSGPIRTPQIP|edacfpfafhndskfpeaspamqnsgalc* 13BR009 ENSG00000143570.18 ENSG00000197272.2(14235),ENSG00000176046.9(11639) -/- ./- chr1:153962529 chr16:28521069 CDS/splice-site intergenic translocation 3 0 0 142 2 medium out-of-frame . . . . ENSG00000143570.18 . ENST00000617697.4 . upstream downstream . ^(ACTACAAAAGTGGATGCCACCTTGCCAGGAGCCACGGTAGGGCCGCTGTATCTGGGAGTAGGGGACTAAGAGTCTGAGGGTCCACAAACGGAATTTAAGAA___GTCGCCTGCTCCGCCCGCTCCCGCTCCCGATCTCTGATTGCTCCTAACTGACGTCACTCCCGGTCTGTCCCCGCCCACTCGGTGCTGCCATTGGCAGTCGGTCGTGG___GTCTGAGAGTCACTGGAGCTACCAGAAGCATCATGGGGCCCTGGGGAGAGCCAGAGCTCCTGGTGTGGCGCCCCGAGGCG)GTAGCTTCAGAGCCTCCAGTGCCTGTGGGGCTGGAGGTGAAGTTGGGGGCCCTGGTGCTGCTGCTGGTGCTCACCCTCCTCTGCAGCCTGGTGCCCATCTGTGTGCTGCGCCGGCCAGGAGCTAACCATGAAGGCTCAG|TACCAAGTGGGACTGTAGTCTTCTGAGGCTCAGACCAGCAACGATGGTGGTGAAG MGPWGEPELLVWRPEAVASEPPVPVGLEVKLGALVLLLVLTLLCSLVPICVLRRPGANHEGS|vpsgtvvf* 13BR009 ENSG00000255250.2(25728),ENSG00000150687.12(9326) ENSG00000077235.18 ./+ -/- chr11:86791195 chr16:27508655 intergenic CDS/splice-site translocation 2 1 0 2 119 medium . . . . . . ENSG00000077235.18 . ENST00000561623.5 downstream downstream . GGAATCTCATCCCAGTGTGACCTTCATTGCCTCTGTCAGTGTGACAGGTTCCACAGAGCTGTCACCCTGCAAACTCACCCTTCCTCCAGGAGCACAGGCGCAGAGCTGCAGTGGAGGGTACCTGTGTGGCTTCCTTGTCTGACACAGATTTGCCTTCATCTG|TTGAGCGCAGAGGCACGAAAGGAATTTCCCAAGCTGAAATCCGAGTGGCTATGAATGTGGGAAAACTAGAAGCAAGAATGCTGTGCCGACTTCTTCAAAGATTCAAAGTTGTCAAG(___GGATTCATGGAAGACGAAGGTCGGCAGCGAACCACCAAGTACATTTCCTGCGTGTTTGCAGAGGAGAGCGACCTAAGCCGGCAGTACCAAAGAGAGAAGGCCCGCAGCGAGCTCTTGACCACCGTGAGCCTGGCGTCTATGCAGGAGGAGTCGCTTCTGCCTGAAGGCGAGGACACCTTCCTCTCTGAGTCGGACAGTGAGGAGGAGAGGAGCAGCAGCAAGCGGAGAGGCAGAGGGTCCCAGAAAGACACAAGAGCCTCTGCAAACCTCCGGCCCAAGACCCAGCCTCATCACTCCACCCCAACCAAGG___GTGGGTGGAAAGTTGTAAACCTACACCCATTGAAAAAGCAGCCGCCCTCCTTCCCAGGAGCTGCTGAAGAGAGAGCCTGCCAGAGCCTTGCCAGCAGGGACAGCCTCTTAGATACCAGCAGCGTCTCAGAACCCAACGTGTCCTTTGTCTCCCACTGTGCGGACAGCAACAGTGGTGACATAGCTGTGATCGAGGAGGTCCGGATGGAAAACCCAAAG___GAGAGTAGCAGTTCCCTGAAGACTGGGAGGCACAGCTCAGGCCAAGACAAACCACACGAAACTTACCGACTGCTGAAACGCAGGAATCTGATCATAGAAGCTGTCACCAATCTTCGCTTAATCGAGAGTTTATTCAC___GATTCAGAAGATGATCATGGATCAGGAGAAGCAGGAAGGCGTGTCCACCAAGTGCTGCAAGAAGTCCATTGTCCGCTTGGTGCGGAACCTGTCTGAGGAAGGTCTCTTGCGATTGTATCGGACCACTGTCATTCAAGATGGCATCAAGAAGAAG___GTGGATCTGGTGGTGCACCCGTCCATGGACCAGAACGACCCTCTAGTGAGAAGTGCCATCGAGCAGGTCCGCTTCCGGATCTCCAATTCAAGCACAGCCAACAG___GGTTAAAACTTCCCAGCCTCCAGTGCCCCAAGGGGAGGCAGAAGAAGACAGTCAAGGAAAAGAGGGCCCAAGTGGATCAGGGGACTCTCAGCTGAGTGCTTCCTCTAGATCAGAAAGTGGACGGATGAAAAAAAGTGATAATAAAATGGGCATAACCCCGCTTAGAAATTATCACCCCATTGTAG___TTCCCGGACTGGGGCGTTCTCTAGGATTTCTGCCCAAAATGCCTCGCCTGCGGGTGGTCCACATGTTTCTGTGGTACCTCATCTACGGGCACCCTGCCAGCAACACCGTGGAGAAGCCAAGCTTCATCAGTGAACGGAGAACGATAAAGCAGGAGTCAGGCAGGGCAGGCGTCCGGCCGTCCTCCTCTGGAAGTGCCTGGGAGGCCTGCTCTGAAGCCCCATCTAAAGGCAGCCAAGATGGTGTCACCTGGGAGGCTGAAGTGGAGCTTGCCACGGAGACAG___TGTATGTCGACGATGCCTCGTGGATGCGCTACATCCCCCCAATCCCAGTCCACAGGGACTTCGGCTTTGGCTGGGCTCTCGTCAGCGACATCCTCCTCTGCCTTCCCCTCTCCATCTTCATCCAGATTGTGCAAGTCAGCTACAAG___GTGGACAACCTGGAGGAATTTCTGAACGACCCGCTGAAGAAGCACACGCTGATCCGCTTTCTCCCCAGGCCCATTCGGCAGCAGCTTCTGTACAAGAG___GCGTTACATTTTTTCGGTGGTGGAGAACCTTCAGAGGCTGTGCTACATGGGGCTGCTACAGTTTGGTCCCACGGAAAAGTTTCAGGATAAAGATCAG___GTCTTTATCTTCTTGAAGAAGAATGCAGTCATTGTTGACACTACCATCTGCGACCCACATTACAACCTGGCCCGCAGCAGCCGGCCCTTCGAGAGGCGCCTCTATGTCCTGAACTCAATGCAGGATGTGGAAAACTACTGGTTTGACCTGCAGTGCGTCTGCCTCAACACCCCACTAG___GCGTGGTGCGCTGCCCGCGCGTCAGGAAGAACAGCAGCACAGACCAGGGCAGCGACGAGGAGGGCAGCCTGCAGAAGGAGCAGGAGAGCGCCATGGACAAGCACAACCTGGAGCGCAAGTGCGCCATGCTGGAGTACACCAC___TGGAAGCCGTGAGGTGGTGGATGAAGGCTTGATCCCTGGAGATGGGCTGGGTGCCGCAGGGCTCGATTCCAGCTTCTACGGACACCTCAAGCGCAACTGGATCTGGACCAGCTACATCATCAACCAGGCCAAAAAG___GAGAACACTGCCGCAGAGAATGGACTCACAGTGAGGCTCCAGACATTTCTGTCCAAGCGCCCAATGCCCCTCAGTGCCAGAG___GCAACAGCAGGTTGAATATTTGGGGGGAAGCAAGAGTAGGCTCCGAGCTCTGTGCTGGCTGGGAAGAGCAGTTTGAGGTGGACCGAGAGCCCTCGCTGGACCGAAACCGGAGAGTGAGGGGTGGGAAAAGCCAGAAGCGGAAGCGGCTGAAGAAGGACCCTGGGAAGAAGATCAAGAGAAAGAAGAAAG___GAGAGTTCCCAGGAGAAAAAAGCAAAAGGCTGCGCTACCATGATGAAGCCGACCAGAGTGCCCTGCAGCGGATGACGCGGCTTCGTGTCACCTGGTCTATGCAGGAGGATGGGCTGCTTGTGCTGTGCCGCATTGCCAGCAATGTCCTCAACACCAAG___GTGAAGGGCCCATTTGTCACCTGGCAGGTGGTACGGGACATTTTGCATGCCACGTTTGAAGAGTCTTTGGATAAAACATCTCATTCCGTTGGACGAAGAGCTCGCTACATAGTCAAAAACCCACAGGCCTATCTCAACTATAA___AGTGTGCCTGGCCGAGGTGTACCAGGATAAAGCACTTGTTGGAGATTTCATGAATCGAAGAGGTGACTATGATGACCCAAAG___GTTTGTGCCAACGAGTTTAAAGAATTTGTGGAGAAGCTTAAAGAAAAGTTCAGTTCAGCCCTAAGGAATTCTAACCTTGAAATCCCAGACACACTCCAGGAGCTGTTCGCCAG___GTACCGAGTTTTGGCAATTGGGGATGAAAAAGATCAAACCAGGAAAGAGGATGAACTTAACAG___CGTGGATGACATCCACTTTCTGGTGCTTCAGAACCTGATCCAGAGCACGCTGGCCCTCTCAGACAGTCAGATGAAGTCCTACCAGTCATTCCAG___ACTTTCCGCCTCTATCGGGAGTACAAGGACCACGTTCTTGTGAAGGCCTTCATGGAGTGCCAGAAGAGGAGCTTGGTCAACCGGCGCCGGGTCAACCACACGCTGGGCCCCAAGAAGAACCGGGCCCTCCCCTTCGTGCCAATGTCCTACCAGCTATCCCAGACCTACTACAG___GATTTTTACGTGGCGATTTCCAAGCACCATCTGCACGGAGTCATTCCAGTTTTTGGACAGAATGCGGGCTGCCGGCAAGTTGGACCAGCCTGATCGTTTCTCTTTCAAAGACCAGGATAATAACGAGCCCACAAACGACATGGTGGCCTTTTCACTGGACGGCCCTGGAGGAAATTGTGTGGCCGTCCTGACCCTCTTCTCTCTGGGCCTCATTTCTGTGGATGTCAGGATCCCGGAGCAGATCATCGTGGTAGACAGCTCAATGGTGGAGAATGAGGTCATCAAAAG___CTTGGGGAAGGACGGCAGCCTGGAGGATGACGAGGATGAAGAGGATGACTTGGACGAAGGTGTAGGGGGCAAGCGCCGGAGCATGGAGGTGAAACCTGCGCAAGCCTCCCACACCAACTACCTGCTGATGAGGGGCTACTACTCCCCCGGCATCGTCAGCACCCGCAACCTCAACCCCAACGACAGCATTGTGGTCAACTCCTGCCAGATGAAGTTCCAGCTCCGCTGCACCCCTGTGCCCGCCCGGCTCAGGCCCGCTG___CCGCTCCTCTGGAAGAGCTAACAATGGGAACCTCCTGCCTCCCTGATACGTTCACCAAGCTGATAAACCCCCAGGAAAACACCTGCAGCTTGGAGGAGTTTGTCCTCCAGCTGGAGCTGTCTGGGTATAGTCCCGAAGACCTGACTGCTGCCTTGGAGATCTTGGAAGCCATTATAGCCACGGGTTGTTTTGGGATTGACAAGGAGGAGCTGCGCAGACGGTTCTCGGCCTTGGAGAAGGCAGGTGGTGGGCGCACCAGGACATTCGCAGATTGCATCCAG___GCCCTCCTGGAGCAGCATCAGGTGCTGGAGGTCGGTGGCAACACTGCGCGCCTGGTAGCCATGGGCTCTGCCTGGCCTTGGCTCCTGCACTCCGTGCGGCTGAAAGACAGAGAAGACGCCGACATCCAGAGAGAAGACCCCCAGGCCAGACCCCTGGAGGGGTCTTCCAGTGAGGACAGCCCCCCCGAGGGGCAGGCACCTCCTTCTCACAGCCCCCGGGGCACCAAGAGGCGCGCCAGCTGGGCCAGTGAGAATGGGGAGACCGACGCCGAGGGCACCCAGATGACCCCTGCCAAGAGGCCAGCGCTCCAGGACTCAAATTTGGCCCCCAGCCTTGGGCCCGGAGCTGAAGATGGGGCAGAAGCCCAGGCCCCATCTCCACCCCCAGCTCTTGAAGACACCGCTGCAGCGGGAGCAGCACAGGAAGACCAAGAGGGTGTCG___GGTTCACAGAGAGTTTCGGAGCTGCCAACATCTCCCAGGCAGCACGGGAAAG___GGACTGTGAGAGTGTCTGCTTCATCGGCCGGCCGTGGCGTGTCGTGGATGGCCACCTGAACCTTCCTGTATGCAAGGGTATGATGGAGGCCATGCTGTACCACATCATGACCAGGCCTGGCATCCCCGAGAGCTCCCTGCTGCGCCACTACCAGGGGGTCCTGCAGCCCGTCGCCGTGCTGGAGTTGCTCCAG___GGCCTGGAGTCCCTCGGCTGCATCCGGAAGCGCTGGCTGAGAAAGCCAAGGCCTGTCTCGCTCTTCTCTACACCCGTGGTGGAAGAGGTGGAAGTGCCCTCCAGCCTGGACGAGAGCCCCATGGCTTTCTATGAGCCCACCTTGGACTGTACCCTCCGGCTGGGCCGTGTGTTCCCCCACGAGGTCAACTGGAACAAGTGGATCCACCTCTAGGACCCCTGTGGGCGTCCCCTCCCTCCCAGCCACCGCCTGCCACACCACTCCTGCCTGGTGCTCGGCAGACCCCACTGTGCCCTGGCCTTGGGTCTGCCGAGCCTCCTGCAGCAGGGGACGGGTGCTTTGGCCAGAGTCACAGACTGACACGTTTCCCACTGTACTGGAACTCTGGAAAGAGGGGCTCCCCGACCTGCCCATCCCCCAGGCTCTTCTGGGCCTTCCCCTTGGGAACTGGCCTCATCACACTGGGAGTTGGTGCTTCTTGTCTCTGGGTCTCCAGAGTTTGCCCCGCCTGTGCACACCTCACATTCCAGACTCTAGCCATCTCGGCAGGATCTCCTGGCTCCTTGAGTGCCCAGGTGCCACCAAGAGGAAGGGCCTTGTGGGATACACCTTGCAGAATAGGGATCGGTGTGCCCCGCTGCGAGGGGCCCCCCATGGGGGCTGTGGCCCCTCCGCAGGCAGGACATCCCAACCCCTGGCTGGGACTGAACCACCCAGAGCGGAGCGGCTCCCTTTTCAGCCTTGTGAGTCACCTGGCAGGCCCCAGCTGGGCTGGCTGTCCGTGTCCCTCAGCCTGGCTGGTGATTCCTTGCAGGCCAGAAATGAAGAGTCCCTGTAGGTTTTGGTTTTGTTTGTTTTATTTTGTTCTTTCACCTTTTTTCCTCATTAAAAAAAAAAAGTCCCTGTGGAGTGTACTTATTTATTTTTTGATTAAAGGGAAGTAAAATGCA)$ . 13BR009 ENSG00000285779.1 ENSG00000197272.2(14235),ENSG00000176046.9(11639) -/- ./- chr1:153962529 chr16:28521069 3'UTR/splice-site intergenic translocation 3 0 0 142 2 medium . . . . . ENSG00000285779.1 . ENST00000648921.1 . upstream downstream . ^(GGTCCCACAGGATATGTAGAGAAAATCACATGCAGCTCATCTAAGAGAAATGAGTTCAAAAG___CTGCCGCTCAGCTTTGATGGAACAACGCTTATTTTGGAAGTTCGAAGGGGCTGTCGTGTGTGTGGCCCTGATCTTCGCTTGTCTTGTCATCATTCGTCAGCGACAATTGGACAGAAAGGCTCTGGAAAAG___GTCGCCTGCTCCGCCCGCTCCCGCTCCCGATCTCTGATTGCTCCTAACTGACGTCACTCCCGGTCTGTCCCCGCCCACTCGGTGCTGCCATTGGCAGTCGGTCGTGG___GTCTGAGAGTCACTGGAGCTACCAGAAGCATCATGGGGCCCTGGGGAGAGCCAGAGCTCCTGGTGTGGCGCCCCGAGGCG)GTAGCTTCAGAGCCTCCAGTGCCTGTGGGGCTGGAGGTGAAGTTGGGGGCCCTGGTGCTGCTGCTGGTGCTCACCCTCCTCTGCAGCCTGGTGCCCATCTGTGTGCTGCGCCGGCCAGGAGCTAACCATGAAGGCTCAG|TACCAAGTGGGACTGTAGTCTTCTGAGGCTCAGACCAGCAACGATGGTGGTGAAG . 13BR009 ENSG00000267080.6 ENSG00000108786.10 -/- +/- chr17:44186565 chr17:42555185 exon/splice-site 3'UTR deletion/5'-5' 0 2 0 23 5 medium . . . . . ENSG00000267080.6 ENSG00000108786.10 ENST00000585457.6 . upstream downstream . ^(GACTGCGGAAGGTTGCCCG)GGCTGGCGCCGCTcGGCAGAGCCGGTGCGACGTTTCCCTTTCCAGCTTTGTTCTTCCGGCCCTGCTGTCTGCCTCCCCGGCTGATTGGATTCGTTACTGCTTTGCAACGCGCACCTAACTCCAG|AGATGGGGGTCTCACTGTGTTGCTCTGGCTGGTCTCCAACTCCGGGGCTTGAGCGATCCTCCTGCCTCCGCCTCCCAAAGCGCTGGCATTACAGGCGACAGCCATCGCGCCTAGCTGCGCTGGTAAAACTGGCTAACGCGATCTATCTTAATTAGCCACCCACAGCTGCTACCGCCGCCCCATC . 13BR009 ENSG00000049618.24 ENSG00000216859.1(54581),ENSG00000217067.2(31343) +/+ ./+ chr6:156779471 chr6:62516084 CDS/splice-site intergenic duplication 0 2 0 10 4 medium out-of-frame . . . . ENSG00000049618.24 . ENST00000346085.10 . downstream upstream . ^(CACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACC___TTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCGGCGGGCCGCGTGGATGCGCACAGGAGGGGCCGCGGCCTGAAAAGTGGGGGTTATTGTCTCCCCCCGCCCCCCGCCCGGCCTCGCCACGCCGCGGCGATCATGGCCGCGCGGGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGCGGGCGCGGGCGCGGGCAGGCAGCGGCGAACGGCGGGCGCCCCCCGGGCCGCGGCCGGCGCCCGGAGCCCGGGACCTGGAGGCGGGGGCGCGCGGCGCGGCGGCGGCGGCGGCGGCACCGGGACCCATGCTGGGGGGCGGCGGCGACGGCGGCGGCGGCCTGAACAGTGTGCACCACCACCCCCTGCTCCCCCGTCACGAACTCAACATGGCCCATAACGCGGGCGCCGCGGCCGCCGCCGGCACCCACAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGGGTGGAAGCGCCGCCGCGCTGTCCTCCTCCTCCTCCTCCTCCGCGGCGGCAGCGGCGGCATCCTCTTCCTCCTCGTCGGGCCCGGGCTCGGCCATGGAGACGGGGCTGCTCCCCAACCACAAACTGAAAACCGTTGGCGAAGCCCCCGCCGCGCCGCCCCACCAGCAGCACCACCACCACCACCATGCCCACCACCACCACCACCATGCCCACCACCTCCACCACCACCACGCACTACAGCAGCAGCTAAACCAGTTCCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACATCCCATTTCCAACAACAACAGCTTGGGCGGCGCGGGCGGCGGCGCGCCTCAGCCCGGCCCCGACATGGAGCAGCCGCAACATGGAGGCGCCAAGGACAGTGCTGCGGGCGGCCAGGCCGACCCCCCGGGCCCGCCGCTGCTGAGCAAGCCGGGCGACGAGGACGACGCGCCGCCCAAGATGGGGGAGCCGGCGGGCGGCCGCTACGAGCACCCGGGCTTGGGCGCCCTGGGCACGCAGCAGCCGCCGGTCGCCGTGCCCGGGGGCGGCGGCGGCCCGGCGGCCGTCCCGGAGTTTAATAATTACTATGGCAGCGCTGCCCCTGCGAGCGGCGGCCCCGGCGGCCGCGCTGGGCCTTGCTTTGATCAACATGGCGGACAACAAAGCCCCGGGATGGGGATGATGCACTCCGCCTCCGCCGCCGCCGCCGGGGCCCCCGGCAGCATGGACCCCCTGCAGAACTCCCACGAAGGGTACCCCAACAGCCAGTGCAACCATTATCCGGGCTACAGCCGGCCCGGCGCGGGCGGCGGCGGCGGCGGCGGCGGCGGAGGAGGAGGAGGCAGCGGAGGAGGAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGAGCAGGAGCGGGAGCTGTGGCGGCGGCGGCCGCGGCGGCGGCGGCAGCAGCAGGAGGCGGCGGCGGCGGCGGCTATGGGGGCTCGTCCGCGGGGTACGGGGTGCTGAGCTCCCCCCGGCAGCAGGGCGGCGGCATGATGATGGGCCCCGGGGGCGGCGGGGCCGCGAGCCTCAGCAAGGCGGCCGCCGGCTCGGCGGCGGGGGGCTTCCAGCGCTTCGCCGGCCAGAACCAGCACCCGTCGGGGGCCACCCCGACCCTCAATCAGCTGCTCACCTCGCCCAGCCCCATGATGCGGAGCTACGGCGGCAGCTACCCCGAGTACAGCAGCCCCAGCGCGCCGCCGCCGCCGCCGTCGCAGCCCCAGTCCCAGGCGGCGGCGGCGGGGGCGGCGGCGGGCGGCCAGCAGGCGGCCGCGGGCATGGGCTTGGGCAAGGACATGGGCGCCCAGTACGCCGCTGCCAGCCCGGCCTGGGCGGCCGCGCAAC)AAAGGAGTCACCCGGCGATGAGCCCCGGCACCCCCGGACCGACCATGGGCAGATCCCAG|GTAAACGATGAAGGCCAAGGCTCTAAGAAGTATTTAACCCAGGAAACCAACCACCATCATGGGAGTTAGAAAAAGGAGATCTGAATTCTCAACTGAGTTCTAC MAARAAAAAAAAAARARARAGSGERRAPPGPRPAPGARDLEAGARGAAAAAAAPGPMLGGGGDGGGGLNSVHHHPLLPRHELNMAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQ|vndegqgskkyltqetnhhhgs* 13BR009 ENSG00000008710.20 ENSG00000226232.8 -/- -/- chr16:2097728 chr16:69990682 CDS/splice-site intron duplication 0 2 0 48 53 medium out-of-frame . Lectin_C-type_domain(100%),Leucine_rich_repeat(100%),PKD_domain(100%),PLAT/LH2_domain(100%),REJ_domain(100%),WSC_domain(100%)| . . ENSG00000008710.20 ENSG00000226232.8 ENST00000262304.9 ENST00000532298.5 upstream downstream . ^(GCACTGCAGCGCCAGCGTCCGAGCGGGCGGCCGAGCTCCCGGAGCGGCCTGGCCCCGAGCCCCGAGCGGGCGTCGCTCAGCAGCAGGTCGCGGCCGCAGCCCCATCCAGCCCCGCGCCCGCCATGCCGTCCGCGGGCCCCGCCTGAGCTGCGGCCTCCGCGCGCGGGCGGGCCTGGGGACGGCGGGGCCATGCGCGCGCTGCCCTAACGATGCCGCCCGCCGCGCCCGCCCGCCTGGCGCTGGCCCTGGGCCTGGGCCTGTGGCTCGGGGCGCTGGCGGGGGGCCCCGGGCGCGGCTGCGGGCCCTGCGAGCCCCCCTGCCTCTGCGGCCCAGCGCCCGGCGCCGCCTGCCGCGTCAACTGCTCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCT___AGACGTCTCCCACAACCTGCTCCGGGCGCTGGACGTTGGGCTCCTGGCGAACCTCTCGGCGCTGGCAGAGCT___GGATATAAGCAACAACAAGATTTCTACGTTAGAAGAAGGAATATTTGCTAATTTATTTAATTTAAGTGAAAT___AAACCTGAGTGGGAACCCGTTTGAGTGTGACTGTGGCCTGGCGTGGCTGCCGCGATGGGCGGAGGAGCAGCAGGTGCGGGTGGTGCAGCCCGAGGCAGCCACGTGTGCTGGGCCTGGCTCCCTGGCTGGCCAGCCTCTGCTTGGCATCCCCTTGCTGGACAGTGGCTGTG___GTGAGGAGTATGTCGCCTGCCTCCCTGACAACAGCTCAGGCACCGTGGCAGCAGTGTCCTTTTCAGCTGCCCACGAAGGCCTGCTTCAGCCAGAGGCCTGCAGCGCCTTCTGCTTCTCCACCGGCCAGGGCCTCGCAGCCCTCTCGGAGCAGGGCTGGTGCCTGTGTGGGGCGGCCCAGCCCTCCAGTGCCTCCTTTGCCTGCCTGTCCCTCTGCTCCGGCCCCCCGCCACCTCCTGCCCCCACCTGTAGGGGCCCCACCCTCCTCCAGCACGTCTTCCCTGCCTCCCCAGGGGCCACCCTGGTGGGGCCCCACGGACCTCTGGCCTCTGGCCAGCTAGCAGCCTTCCACATCGCTGCCCCGCTCCCTGTCACTGCCACACGCTGGGACTTCGGAGACGGCTCCGCCGAGGTGGATGCCGCTGGGCCGGCTGCCTCGCATCGCTATGTGCTGCCTGGGCGCTATCACGTGACGGCCGTGCTGGCCCTGGGGGCCGGCTCAGCCCTGCTGGGGACAGACGTGCAGGTGGAAGCGGCACCTGCCGCCCTGGAGCTCGTGTGCCCGTCCTCGGTGCAGAGTGACGAGAGCCTCGACCTCAGCATCCAGAACCGCGGTGGTTCAGGCCTGGAGGCCGCCTACAGCATCGTGGCCCTGGGCGAGGAGCCGGCCCGAG___CGGTGCACCCGCTCTGCCCCTCGGACACGGAGATCTTCCCTGGCAACGGGCACTGCTACCGCCTGGTGGTGGAGAAGGCGGCCTGGCTGCAGGCGCAGGAGCAGTGTCAGGCCTGGGCCGGGGCCGCCCTGGCAATGGTGGACAGTCCCGCCGTGCAGCGCTTCCTGGTCTCCCGGGTCACCAG___GAGCCTAGACGTGTGGATCGGCTTCTCGACTGTGCAGGGGGTGGAGGTGGGCCCAGCGCCGCAGGGCGAGGCCTTCAGCCTGGAGAGCTGCCAGAACTGGCTGCCCGGGGAGCCACACCCAGCCACAGCCGAGCACTGCGTCCGGCTCGGGCCCACCGGGTGGTGTAACACCGACCTGTGCTCAGCGCCGCACAGCTACGTCTGCGAGCTGCAGCCCGGAG___GCCCAGTGCAGGATGCCGAGAACCTCCTCGTGGGAGCGCCCAGTGGGGACCTGCAGGGACCCCTGACGCCTCTGGCACAGCAGGACGGCCTCTCAGCCCCGCACGAGCCCGTGGAG___GTCATGGTATTCCCGGGCCTGCGTCTGAGCCGTGAAGCCTTCCTCACCACGGCCGAATTTGGGACCCAGGAGCTCCGGCGGCCCGCCCAGCTGCGGCTGCAGGTGTACCGGCTCCTCAGCACAGCAG___GGACCCCGGAGAACGGCAGCGAGCCTGAGAGCAGGTCCCCGGACAACAGGACCCAGCTGGCCCCCGCGTGCATGCCAGGGGGACGCTGGTGCCCTGGAGCCAACATCTGCTTGCCGCTGGACGCCTCCTGCCACCCCCAGGCCTGCGCCAATGGCTGCACGTCAGGGCCAGGGCTACCCGGGGCCCCCTATGCGCTATGGAGAGAGTTCCTCTTCTCCGTTCCCGCGGGGCCCCCCGCGCAGTACTCG___GTCACCCTCCACGGCCAGGATGTCCTCATGCTCCCTGGTGACCTCGTTGGCTTGCAGCACGACGCTGGCCCTGGCGCCCTCCTGCACTGCTCGCCGGCTCCCGGCCACCCTGGTCCCCGGGCCCCGTACCTCTCCGCCAACGCCTCGTCATGGCTGCCCCACTTGCCAGCCCAGCTGGAGGGCACTTGGGCCTGCCCTGCCTGTGCCCTGCGGCTGCTTGCAGCCACGGAACAGCTCACCGTGCTGCTGGGCTTGAGGCCCAACCCTGGACTGCGGCTGCCTGGGCGCTATGAGGTCCGGGCAGAGGTGGGCAATGGCGTGTCCAGGCACAACCTCTCCTGCAGCTTTGACGTGGTCTCCCCAGTGGCTGGGCTGCGGGTCATCTACCCTGCCCCCCGCGACGGCCGCCTCTACGTGCCCACCAACGGCTCAGCCTTGGTGCTCCAGGTGGACTCTGGTGCCAACGCCACGGCCACGGCTCGCTGGCCTGGGGGCAGTGTCAGCGCCCGCTTTGAGAATGTCTGCCCTGCCCTGGTGGCCACCTTCGTGCCCGGCTGCCCCTGGGAGACCAACGATACCCTGTTCTCAGTGGTAGCACTGCCGTGGCTCAGTGAGGGGGAGCACGTGGTGGACGTGGTGGTGGAAAACAGCGCCAGCCGGGCCAACCTCAGCCTGCGGGTGACGGCGGAGGAGCCCATCTGTGGCCTCCGCGCCACGCCCAGCCCCGAGGCCCGTGTACTGCAGGGAGTCCTAGTG___AGGTACAGCCCCGTGGTGGAGGCCGGCTCGGACATGGTCTTCCGGTGGACCATCAACGACAAGCAGTCCCTGACCTTCCAGAACGTGGTCTTCAATGTCATTTATCAGAGCGCGGCGGTCTTCAAGCTCTCA___CTGACGGCCTCCAACCACGTGAGCAACGTCACCGTGAACTACAACGTAACCGTGGAGCGGATGAACAGGATGCAGGGTCTGCAGGTCTCCACAGTGCCGGCCGTGCTGTCCCCCAATGCCACGCTAGCACTGACGGCGGGCGTGCTGGTGGACTCGGCCGTGGAGGTGGCCTTCCT___GTGGACCTTTGGGGATGGGGAGCAGGCCCTCCACCAGTTCCAGCCTCCGTACAACGAGTCCTTCCCGGTTCCAGACCCCTCGGTGGCCCAGGTGCTGGTGGAGCACAATGTCATGCACACCTACGCTGCCCCAG___GTGAGTACCTCCTGACCGTGCTGGCATCTAATGCCTTCGAGAACCTGACGCAGCAGGTGCCTGTGAGCGTGCGCGCCTCCCTGCCCTCCGTGGCTGTGGGTGTGAGTGACGGCGTCCTGGTGGCCGGCCGGCCCGTCACCTTCTACCCGCACCCGCTGCCCTCGCCTGGGGGTGTTCTTTACACGTGGGACTTCGGGGACGGCTCCCCTGTCCTGACCCAGAGCCAGCCGGCTGCCAACCACACCTATGCCTCGAGGGGCACCTACCACGTGCGCCTGGAGGTCAACAACACGGTGAGCGGTGCGGCGGCCCAGGCGGATGTGCGCGTCTTTGAGGAGCTCCGCGGACTCAGCGTGGACATGAGCCTGGCCGTGGAGCAGGGCGCCCCCGTGGTGGTCAGCGCCGCGGTGCAGACGGGCGACAACATCACGTGGACCTTCGACATGGGGGACGGCACCGTGCTGTCGGGCCCGGAGGCAACAGTGGAGCATGTGTACCTGCGGGCACAGAACTGCACAGTGACCGTGGGTGCGGCCAGCCCCGCCGGCCACCTGGCCCGGAGCCTGCACGTGCTGGTCTTCGTCCTGGAGGTGCTGCGCGTTGAACCCGCCGCCTGCATCCCCACGCAGCCTGACGCGCGGCTCACGGCCTACGTCACCGGGAACCCGGCCCACTACCTCTTCGACTGGACCTTCGGGGATGGCTCCTCCAACACGACCGTGCGGGGGTGCCCGACGGTGACACACAACTTCACGCGGAGCGGCACGTTCCCCCTGGCGCTGGTGCTGTCCAGCCGCGTGAACAGGGCGCATTACTTCACCAGCATCTGCGTGGAGCCAGAGGTGGGCAACGTCACCCTGCAGCCAGAGAGGCAGTTTGTGCAGCTCGGGGACGAGGCCTGGCTGGTGGCATGTGCCTGGCCCCCGTTCCCCTACCGCTACACCTGGGACTTTGGCACCGAGGAAGCCGCCCCCACCCGTGCCAGGGGCCCTGAGGTGACGTTCATCTACCGAGACCCAGGCTCCTATCTTGTGACAGTCACCGCGTCCAACAACATCTCTGCTGCCAATGACTCAGCCCTGGTGGAGGTGCAGGAGCCCGTGCTGGTCACCAGCATCAAGGTCAATGGCTCCCTTGGGCTGGAGCTGCAGCAGCCGTACCTGTTCTCTGCTGTGGGCCGTGGGCGCCCCGCCAGCTACCTGTGGGATCTGGGGGACGGTGGGTGGCTCGAGGGTCCGGAGGTCACCCACGCTTACAACAGCACAGGTGACTTCACCGTTAGGGTGGCCGGCTGGAATGAGGTGAGCCGCAGCGAGGCCTGGCTCAATGTGACGGTGAAGCGGCGCGTGCGGGGGCTCGTCGTCAATGCAAGCCGCACGGTGGTGCCCCTGAATGGGAGCGTGAGCTTCAGCACGTCGCTGGAGGCCGGCAGTGATGTGCGCTATTCCTGGGTGCTCTGTGACCGCTGCACGCCCATCCCTGGGGGTCCTACCATCTCTTACACCTTCCGCTCCGTGGGCACCTTCAATATCATCGTCACGGCTGAGAACGAGGTGGGCTCCGCCCAGGACAGCATCTTCGTCTATGTCCTGCAGCTCATAGAGGGGCTGCAGGTGGTGGGCGGTGGCCGCTACTTCCCCACCAACCACACGGTACAGCTGCAGGCCGTGGTTAGGGATGGCACCAACGTCTCCTACAGCTGGACTGCCTGGAGGGACAGGGGCCCGGCCCTGGCCGGCAGCGGCAAAGGCTTCTCGCTCACCGTGCTCGAGGCCGGCACCTACCATGTGCAGCTGCGGGCCACCAACATGCTGGGCAGCGCCTGGGCCGACTGCACCATGGACTTCGTGGAGCCTGTGGGGTGGCTGATGGTGGCCGCCTCCCCGAACCCAGCTGCCGTCAACACAAGCGTCACCCTCAGTGCCGAGCTGGCTGGTGGCAGTGGTGTCGTATACACTTGGTCCTTGGAGGAGGGGCTGAGCTGGGAGACCTCCGAGCCATTTACCACCCATAGCTTCCCCACACCCGGCCTGCACTTGGTCACCATGACGGCAGGGAACCCGCTGGGCTCAGCCAACGCCACCGTGGAAGTGGATGTGCAGGTGCCTGTGAGTGGCCTCAGCATCAGGGCCAGCGAGCCCGGAGGCAGCTTCGTGGCGGCCGGGTCCTCTGTGCCCTTTTGGGGGCAGCTGGCCACGGGCACCAATGTGAGCTGGTGCTGGGCTGTGCCCGGCGGCAGCAGCAAGCGTGGCCCTCATGTCACCATGGTCTTCCCGGATGCTGGCACCTTCTCCATCCGGCTCAATGCCTCCAACGCAGTCAGCTGGGTCTCAGCCACGTACAACCTCACGGCGGAGGAGCCCATCGTGGGCCTGGTGCTGTGGGCCAGCAGCAAGGTGGTGGCGCCCGGGCAGCTGGTCCATTTTCAGATCCTGCTGGCTGCCGGCTCAGCTGTCACCTTCCGCCTGCAGGTCGGCGGGGCCAACCCCGAGGTGCTCCCCGGGCCCCGTTTCTCCCACAGCTTCCCCCGCGTCGGAGACCACGTGGTGAGCGTGCGGGGCAAAAACCACGTGAGCTGGGCCCAGGCGCAGGTGCGCATCGTGGTGCTGGAGGCCGTGAGTGGGCTGCAGGTGCCCAACTGCTGCGAGCCTGGCATCGCCACGGGCACTGAGAGGAACTTCACAGCCCGCGTGCAGCGCGGCTCTCGGGTCGCCTACGCCTGGTACTTCTCGCTGCAGAAGGTCCAGGGCGACTCGCTGGTCATCCTGTCGGGCCGCGACGTCACCTACACGCCCGTGGCCGCGGGGCTGTTGGAGATCCAGGTGCGCGCCTTCAACGCCCTGGGCAGTGAGAACCGCACGCTGGTGCTGGAGGTTCAGGACGCCGTCCAGTATGTGGCCCTGCAGAGCGGCCCCTGCTTCACCAACCGCTCGGCGCAGTTTGAGGCCGCCACCAGCCCCAGCCCCCGGCGTGTGGCCTACCACTGGGACTTTGGGGATGGGTCGCCAGGGCAGGACACAGATGAGCCCAGGGCCGAGCACTCCTACCTGAGGCCTGGGGACTACCGCGTGCAGGTGAACGCCTCCAACCTGGTGAGCTTCTTCGTGGCGCAGGCCACGGTGACCGTCCAGGTGCTGGCCTGCCGGGAGCCGGAGGTGGACGTGGTCCTGCCCCTGCAGGTGCTGATGCGGCGATCACAGCGCAACTACTTGGAGGCCCACGTTGACCTGCGCGACTGCGTCACCTACCAGACTGAGTACCGCTGGGAGGTGTATCGCACCGCCAGCTGCCAGCGGCCGGGGCGCCCAGCGCGTGTGGCCCTGCCCGGCGTGGACGTGAGCCGGCCTCGGCTGGTGCTGCCGCGGCTGGCGCTGCCTGTGGGGCACTACTGCTTTGTGTTTGTCGTGTCATTTGGGGACACGCCACTGACACAGAGCATCCAGGCCAATGTGACGGTGGCCCCCGAGCGCCTGGTGCCCATCATTGAGGGTGGCTCATACCGCGTGTGGTCAGACACACGGGACCTGGTGCTGGATGGGAGCGAGTCCTACGACCCCAACCTGGAGGACGGCGACCAGACGCCGCTCAGTTTCCACTGGGCCTGTGTGGCTTCGACACAG___AGGGAGGCTGGCGGGTGTGCGCTGAACTTTGGGCCCCGCGGGAGCAGCACGGTCACCATTCCACGGGAGCGGCTGGCGGCTGGCGTGGAGTACACCTTCAGCCTGACCGTGTGGAAGGCCGGCCGCAAGGAGGAGGCCACCAACCAGACG___GTGCTGATCCGGAGTGGCCGGGTGCCCATTGTGTCCTTGGAGTGTGTGTCCTGCAAGGCACAGGCCGTGTACGAAGTGAGCCGCAGCTCCTACGTGTACTTGGAGGGCCGCTGCCTCAATTGCAGCAGCGGCTCCAAGCGAGGG___CGGTGGGCTGCACGTACGTTCAGCAACAAGACGCTGGTGCTGGATGAGACCACCACATCCACGGGCAGTGCAGGCATGCGACTGGTGCTGCGGCGGGGCGTGCTGCGGGACGGCGAGGGATACACCTTCACGCTCACGGTGCTGGGCCGCTCTGGCGAGGAGGAGGGCTGCGCCTCCATCCGCCTGTCCCCCAACCGCCCGCCGCTGGGGGGCTCTTGCCGCCTCTTCCCACTGGGCGCTGTGCACGCCCTCACCACCAAGGTGCACTTCGAATGCACGG___GCTGGCATGACGCGGAGGATGCTGGCGCCCCGCTGGTGTACGCCCTGCTGCTGCGGCGCTGTCGCCAGGGCCACTGCGAGGAGTTCTGTGTCTACAAGGGCAGCCTCTCCAGCTACGGAGCCGTGCTGCCCCCGGGTTTCAGGCCACACTTCGAGGTGGGCCTGGCCGTGGTGGTGCAGGACCAGCTGGGAGCCGCTGTGGTCGCCCTCAACAG___GTCTTTGGCCATCACCCTCCCAGAGCCCAACGGCAGCGCAACGGGGCTCACAGTCTGGCTGCACGGGCTCACCGCTAGTGTGCTCCCAGGGCTGCTGCGGCAGGCCGATCCCCAGCACGTCATCGAGTACTCGTTGGCCCTGGTCACCGTGCTGAACGAG___TACGAGCGGGCCCTGGACGTGGCGGCAGAGCCCAAGCACGAGCGGCAGCACCGAGCCCAGATACGCAAGAACATCACGGAGACTCTGGTGTCCCTGAGGGTCCACACTGTGGATGACATCCAGCAGATCGCTGCTGCGCTGGCCCAGTGCATG___GGGCCCAGCAGGGAGCTCGTATGCCGCTCGTGCCTGAAGCAGACGCTGCACAAGCTGGAGGCCATGATGCTCATCCTGCAGGCAGAGACCACCGCGGGCACCGTGACGCCCACCGCCATCGGAGACAGCATCCTCAACATCACAG___GAGACCTCATCCACCTGGCCAGCTCGGACGTGCGGGCACCACAGCCCTCAGAGCTGGGAGCCGAGTCACCATCTCGGATGGTGGCGTCCCAGGCCTACAACCTGACCTCTGCCCTCATGCGCATCCTCATGCGCTCCCGCGTGCTCAACGAGGAGCCCCTGACGCTGGCGGGCGAGGAGATCGTGGCCCAGGGCAAGCGCTCGGACCCGCGGAGCCTGCTGTGCTATGGCGGCGCCCCAGGGCCTGGCTGCCACTTCTCCATCCCCGAGGCTTTCAGCGGGGCCCTGGCCAACCTCAGTGACGTGGTGCAGCTCATCTTTCTGGTGGACTCCAATCCCTTTCCCTTTGGCTATATCAGCAACTACACCGTCTCCACCAAGGTGGCCTCGATGGCATTCCAGACACAGGCCGGCGCCCAGATCCCCATCGAGCGGCTGGCCTCAGAGCGCGCCATCACCGTGAAGGTGCCCAACAACTCGGACTGGGCTGCCCGGGGCCACCGCAGCTCCGCCAACTCCGCCAACTCCGTTGTGGTCCAGCCCCAGGCCTCCGTCGGTGCTGTGGTCACCCTGGACAGCAGCAACCCTGCGGCCGGGCTGCATCTGCAGCTCAACTATACGCTGCTGGACG___GCCACTACCTGTCTGAGGAACCTGAGCCCTACCTGGCAGTCTACCTACACTCGGAGCCCCGGCCCAATGAGCACAACTGCTCGGCTAGCAGGAGGATCCGCCCAGAGTCACTCCAGGGTGCTGACCACCGGCCCTACACCTTCTTCATTTCCCCGGG___GAGCAGAGACCCAGCGGGGAGTTACCATCTGAACCTCTCCAGCCACTTCCGCTGGTCGGCGCTGCAGGTGTCCGTGGGCCTGTACACGTCCCTGTGCCAGTACTTCAGCGAGGAGGACATGGTGTGGCGGACAGAGGGGCTGCTGCCCCTGGAGGAGACCTCGCCCCGCCAGGCCGTCTGCCTCACCCGCCACCTCACCGCCTTCGGCGCCAGCCTCTTCGTGCCCCCAAGCCATGTCCGCTTTGTGTTTCCT___GAGCCGACAGCGGATGTAAACTACATCGTCATGCTGACATGTGCTGTGTGCCTGGTGACCTACATGGTCATGGCCGCCATCCTGCACAAGCTGGACCAGTTGGATGCCAGCCGGGGCCGCGCCATCCCTTTCTGTGGGCAGCGGGGCCGCTTCAAGTACGAGATCCTCGTCAAGACAGGCTGGGGCCGGGGCTCAG___GTACCACGGCCCACGTGGGCATCATGCTGTATGGGGTGGACAGCCGGAGCGGCCACCGGCACCTGGACGGCGACAGAGCCTTCCACCGCAACAGCCTGGACATCTTCCGGATCGCCACCCCGCACAGCCTGGGTAGCGTGTGGAAGATCCGAGTGTGGCACGACAACAAAG___GGCTCAGCCCTGCCTGGTTCCTGCAGCACGTCATCGTCAGGGACCTGCAGACGGCACGCAGCGCCTTCTTCCTGGTCAATGACTGGCTTTCGGTGGAGACGGAGGCCAACGGGGGCCTGGTGGAGAAGGAGGTGCTGGCCGCGA___GCGACGCAGCCCTTTTGCGCTTCCGGCGCCTGCTGGTGGCTGAGCTGCAGCGTGGCTTCTTTGACAAGCACATCTGGCTCTCCATATGGGACCGGCCGCCTCGTAGCCGTTTCACTCGCATCCAGAGGGCCACCTGCTGCGTTCTCCTCATCTGCCTCTTCCTGGGCGCCAACGCCGTGTGGTACGGGGCTGTTGGCGACTCTGCCTACAG___CACGGGGCATGTGTCCAGGCTGAGCCCGCTGAGCGTCGACACAGTCGCTGTTGGCCTGGTGTCCAGCGTGGTTGTCTATCCCGTCTACCTGGCCATCCTTTTTCTCTTCCGGATGTCCCGGAGCAAG___GTGGCTGGGAGCCCGAGCCCCACACCTGCCGGGCAGCAGGTGCTGGACATCGACAGCTGCCTGGACTCGTCCGTGCTGGACAGCTCCTTCCTCACGTTCTCAGGCCTCCACGCTGAG___CAGGCCTTTGTTGGACAGATGAAGAGTGA)CTTGTTTCTGGATGATTCTAAGAG|TGACCTTGAGGAACCCTGGGAGCTCAGGAAGGAAGGAGCGCCCAGAAGCAGGGACAGGGAGCTGGTTGGGGAGGACCAGAAATCAG___GTTATCAATACTCTGGCTGACCATCGTCATCG(TGAGACTGACTTTGGTGGAAGTCCTTGGATAATTATCATTATTGTGTTTCTGGGACGTTACAAATTTACCATTCTCTTCTGCACAATTTACCTTTGT___GTGCCTTTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATAGATCCAGGGATGTACAGCAGAGAGCTAGGAGGTCCAACCGCCGTAGACAGGAAG___GGCTGAGGTCCATTTGTATGCACACAAAGAAAAGAGTTTCTTCCTTTCCAGGAATTAAAATTGGCCTGGAAGACATCTGTACTTTATGGAAACAGGCGGAAACAAAAGTTCAAGCTAAAATCCGTAAGATGAAGGTCACAAAGAAAGTCAACCATCATTACAAAATCAATGGAAAGAGGAAGACCGCCAAAGAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGTGGCGGGCAGAGGACTACCACAAATGCAAA___ATCACCCCCTCTGCAAGAAAGCCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCGCCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAATGTCTTCTTATTCCCCTTCCACCCTCTCCTCTTCCACCCTCCGTGGATGATAATCTCAAGACTCCTCCCTTAGCTACTCAGGAGGCCGAGGCAGAAAAATCACTGAAACCCAAGAGGCAGAGGTTGAGTAAGCTGAGAACAGGTCATTGCACTCAAGCCTGGGCAATAAGAAGAAATCTGTGA)$ MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKs|dleepwelrkegaprsrdrelvgedqksgyqysg* 13BR009 ENSG00000008710.20 ENSG00000196696.13 -/- -/- chr16:2097728 chr16:69990682 CDS/splice-site exon/splice-site duplication 0 2 0 48 53 medium out-of-frame . Lectin_C-type_domain(100%),Leucine_rich_repeat(100%),PKD_domain(100%),PLAT/LH2_domain(100%),REJ_domain(100%),WSC_domain(100%)| . . ENSG00000008710.20 ENSG00000196696.13 ENST00000262304.9 ENST00000530079.5 upstream downstream . ^(GCACTGCAGCGCCAGCGTCCGAGCGGGCGGCCGAGCTCCCGGAGCGGCCTGGCCCCGAGCCCCGAGCGGGCGTCGCTCAGCAGCAGGTCGCGGCCGCAGCCCCATCCAGCCCCGCGCCCGCCATGCCGTCCGCGGGCCCCGCCTGAGCTGCGGCCTCCGCGCGCGGGCGGGCCTGGGGACGGCGGGGCCATGCGCGCGCTGCCCTAACGATGCCGCCCGCCGCGCCCGCCCGCCTGGCGCTGGCCCTGGGCCTGGGCCTGTGGCTCGGGGCGCTGGCGGGGGGCCCCGGGCGCGGCTGCGGGCCCTGCGAGCCCCCCTGCCTCTGCGGCCCAGCGCCCGGCGCCGCCTGCCGCGTCAACTGCTCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCT___AGACGTCTCCCACAACCTGCTCCGGGCGCTGGACGTTGGGCTCCTGGCGAACCTCTCGGCGCTGGCAGAGCT___GGATATAAGCAACAACAAGATTTCTACGTTAGAAGAAGGAATATTTGCTAATTTATTTAATTTAAGTGAAAT___AAACCTGAGTGGGAACCCGTTTGAGTGTGACTGTGGCCTGGCGTGGCTGCCGCGATGGGCGGAGGAGCAGCAGGTGCGGGTGGTGCAGCCCGAGGCAGCCACGTGTGCTGGGCCTGGCTCCCTGGCTGGCCAGCCTCTGCTTGGCATCCCCTTGCTGGACAGTGGCTGTG___GTGAGGAGTATGTCGCCTGCCTCCCTGACAACAGCTCAGGCACCGTGGCAGCAGTGTCCTTTTCAGCTGCCCACGAAGGCCTGCTTCAGCCAGAGGCCTGCAGCGCCTTCTGCTTCTCCACCGGCCAGGGCCTCGCAGCCCTCTCGGAGCAGGGCTGGTGCCTGTGTGGGGCGGCCCAGCCCTCCAGTGCCTCCTTTGCCTGCCTGTCCCTCTGCTCCGGCCCCCCGCCACCTCCTGCCCCCACCTGTAGGGGCCCCACCCTCCTCCAGCACGTCTTCCCTGCCTCCCCAGGGGCCACCCTGGTGGGGCCCCACGGACCTCTGGCCTCTGGCCAGCTAGCAGCCTTCCACATCGCTGCCCCGCTCCCTGTCACTGCCACACGCTGGGACTTCGGAGACGGCTCCGCCGAGGTGGATGCCGCTGGGCCGGCTGCCTCGCATCGCTATGTGCTGCCTGGGCGCTATCACGTGACGGCCGTGCTGGCCCTGGGGGCCGGCTCAGCCCTGCTGGGGACAGACGTGCAGGTGGAAGCGGCACCTGCCGCCCTGGAGCTCGTGTGCCCGTCCTCGGTGCAGAGTGACGAGAGCCTCGACCTCAGCATCCAGAACCGCGGTGGTTCAGGCCTGGAGGCCGCCTACAGCATCGTGGCCCTGGGCGAGGAGCCGGCCCGAG___CGGTGCACCCGCTCTGCCCCTCGGACACGGAGATCTTCCCTGGCAACGGGCACTGCTACCGCCTGGTGGTGGAGAAGGCGGCCTGGCTGCAGGCGCAGGAGCAGTGTCAGGCCTGGGCCGGGGCCGCCCTGGCAATGGTGGACAGTCCCGCCGTGCAGCGCTTCCTGGTCTCCCGGGTCACCAG___GAGCCTAGACGTGTGGATCGGCTTCTCGACTGTGCAGGGGGTGGAGGTGGGCCCAGCGCCGCAGGGCGAGGCCTTCAGCCTGGAGAGCTGCCAGAACTGGCTGCCCGGGGAGCCACACCCAGCCACAGCCGAGCACTGCGTCCGGCTCGGGCCCACCGGGTGGTGTAACACCGACCTGTGCTCAGCGCCGCACAGCTACGTCTGCGAGCTGCAGCCCGGAG___GCCCAGTGCAGGATGCCGAGAACCTCCTCGTGGGAGCGCCCAGTGGGGACCTGCAGGGACCCCTGACGCCTCTGGCACAGCAGGACGGCCTCTCAGCCCCGCACGAGCCCGTGGAG___GTCATGGTATTCCCGGGCCTGCGTCTGAGCCGTGAAGCCTTCCTCACCACGGCCGAATTTGGGACCCAGGAGCTCCGGCGGCCCGCCCAGCTGCGGCTGCAGGTGTACCGGCTCCTCAGCACAGCAG___GGACCCCGGAGAACGGCAGCGAGCCTGAGAGCAGGTCCCCGGACAACAGGACCCAGCTGGCCCCCGCGTGCATGCCAGGGGGACGCTGGTGCCCTGGAGCCAACATCTGCTTGCCGCTGGACGCCTCCTGCCACCCCCAGGCCTGCGCCAATGGCTGCACGTCAGGGCCAGGGCTACCCGGGGCCCCCTATGCGCTATGGAGAGAGTTCCTCTTCTCCGTTCCCGCGGGGCCCCCCGCGCAGTACTCG___GTCACCCTCCACGGCCAGGATGTCCTCATGCTCCCTGGTGACCTCGTTGGCTTGCAGCACGACGCTGGCCCTGGCGCCCTCCTGCACTGCTCGCCGGCTCCCGGCCACCCTGGTCCCCGGGCCCCGTACCTCTCCGCCAACGCCTCGTCATGGCTGCCCCACTTGCCAGCCCAGCTGGAGGGCACTTGGGCCTGCCCTGCCTGTGCCCTGCGGCTGCTTGCAGCCACGGAACAGCTCACCGTGCTGCTGGGCTTGAGGCCCAACCCTGGACTGCGGCTGCCTGGGCGCTATGAGGTCCGGGCAGAGGTGGGCAATGGCGTGTCCAGGCACAACCTCTCCTGCAGCTTTGACGTGGTCTCCCCAGTGGCTGGGCTGCGGGTCATCTACCCTGCCCCCCGCGACGGCCGCCTCTACGTGCCCACCAACGGCTCAGCCTTGGTGCTCCAGGTGGACTCTGGTGCCAACGCCACGGCCACGGCTCGCTGGCCTGGGGGCAGTGTCAGCGCCCGCTTTGAGAATGTCTGCCCTGCCCTGGTGGCCACCTTCGTGCCCGGCTGCCCCTGGGAGACCAACGATACCCTGTTCTCAGTGGTAGCACTGCCGTGGCTCAGTGAGGGGGAGCACGTGGTGGACGTGGTGGTGGAAAACAGCGCCAGCCGGGCCAACCTCAGCCTGCGGGTGACGGCGGAGGAGCCCATCTGTGGCCTCCGCGCCACGCCCAGCCCCGAGGCCCGTGTACTGCAGGGAGTCCTAGTG___AGGTACAGCCCCGTGGTGGAGGCCGGCTCGGACATGGTCTTCCGGTGGACCATCAACGACAAGCAGTCCCTGACCTTCCAGAACGTGGTCTTCAATGTCATTTATCAGAGCGCGGCGGTCTTCAAGCTCTCA___CTGACGGCCTCCAACCACGTGAGCAACGTCACCGTGAACTACAACGTAACCGTGGAGCGGATGAACAGGATGCAGGGTCTGCAGGTCTCCACAGTGCCGGCCGTGCTGTCCCCCAATGCCACGCTAGCACTGACGGCGGGCGTGCTGGTGGACTCGGCCGTGGAGGTGGCCTTCCT___GTGGACCTTTGGGGATGGGGAGCAGGCCCTCCACCAGTTCCAGCCTCCGTACAACGAGTCCTTCCCGGTTCCAGACCCCTCGGTGGCCCAGGTGCTGGTGGAGCACAATGTCATGCACACCTACGCTGCCCCAG___GTGAGTACCTCCTGACCGTGCTGGCATCTAATGCCTTCGAGAACCTGACGCAGCAGGTGCCTGTGAGCGTGCGCGCCTCCCTGCCCTCCGTGGCTGTGGGTGTGAGTGACGGCGTCCTGGTGGCCGGCCGGCCCGTCACCTTCTACCCGCACCCGCTGCCCTCGCCTGGGGGTGTTCTTTACACGTGGGACTTCGGGGACGGCTCCCCTGTCCTGACCCAGAGCCAGCCGGCTGCCAACCACACCTATGCCTCGAGGGGCACCTACCACGTGCGCCTGGAGGTCAACAACACGGTGAGCGGTGCGGCGGCCCAGGCGGATGTGCGCGTCTTTGAGGAGCTCCGCGGACTCAGCGTGGACATGAGCCTGGCCGTGGAGCAGGGCGCCCCCGTGGTGGTCAGCGCCGCGGTGCAGACGGGCGACAACATCACGTGGACCTTCGACATGGGGGACGGCACCGTGCTGTCGGGCCCGGAGGCAACAGTGGAGCATGTGTACCTGCGGGCACAGAACTGCACAGTGACCGTGGGTGCGGCCAGCCCCGCCGGCCACCTGGCCCGGAGCCTGCACGTGCTGGTCTTCGTCCTGGAGGTGCTGCGCGTTGAACCCGCCGCCTGCATCCCCACGCAGCCTGACGCGCGGCTCACGGCCTACGTCACCGGGAACCCGGCCCACTACCTCTTCGACTGGACCTTCGGGGATGGCTCCTCCAACACGACCGTGCGGGGGTGCCCGACGGTGACACACAACTTCACGCGGAGCGGCACGTTCCCCCTGGCGCTGGTGCTGTCCAGCCGCGTGAACAGGGCGCATTACTTCACCAGCATCTGCGTGGAGCCAGAGGTGGGCAACGTCACCCTGCAGCCAGAGAGGCAGTTTGTGCAGCTCGGGGACGAGGCCTGGCTGGTGGCATGTGCCTGGCCCCCGTTCCCCTACCGCTACACCTGGGACTTTGGCACCGAGGAAGCCGCCCCCACCCGTGCCAGGGGCCCTGAGGTGACGTTCATCTACCGAGACCCAGGCTCCTATCTTGTGACAGTCACCGCGTCCAACAACATCTCTGCTGCCAATGACTCAGCCCTGGTGGAGGTGCAGGAGCCCGTGCTGGTCACCAGCATCAAGGTCAATGGCTCCCTTGGGCTGGAGCTGCAGCAGCCGTACCTGTTCTCTGCTGTGGGCCGTGGGCGCCCCGCCAGCTACCTGTGGGATCTGGGGGACGGTGGGTGGCTCGAGGGTCCGGAGGTCACCCACGCTTACAACAGCACAGGTGACTTCACCGTTAGGGTGGCCGGCTGGAATGAGGTGAGCCGCAGCGAGGCCTGGCTCAATGTGACGGTGAAGCGGCGCGTGCGGGGGCTCGTCGTCAATGCAAGCCGCACGGTGGTGCCCCTGAATGGGAGCGTGAGCTTCAGCACGTCGCTGGAGGCCGGCAGTGATGTGCGCTATTCCTGGGTGCTCTGTGACCGCTGCACGCCCATCCCTGGGGGTCCTACCATCTCTTACACCTTCCGCTCCGTGGGCACCTTCAATATCATCGTCACGGCTGAGAACGAGGTGGGCTCCGCCCAGGACAGCATCTTCGTCTATGTCCTGCAGCTCATAGAGGGGCTGCAGGTGGTGGGCGGTGGCCGCTACTTCCCCACCAACCACACGGTACAGCTGCAGGCCGTGGTTAGGGATGGCACCAACGTCTCCTACAGCTGGACTGCCTGGAGGGACAGGGGCCCGGCCCTGGCCGGCAGCGGCAAAGGCTTCTCGCTCACCGTGCTCGAGGCCGGCACCTACCATGTGCAGCTGCGGGCCACCAACATGCTGGGCAGCGCCTGGGCCGACTGCACCATGGACTTCGTGGAGCCTGTGGGGTGGCTGATGGTGGCCGCCTCCCCGAACCCAGCTGCCGTCAACACAAGCGTCACCCTCAGTGCCGAGCTGGCTGGTGGCAGTGGTGTCGTATACACTTGGTCCTTGGAGGAGGGGCTGAGCTGGGAGACCTCCGAGCCATTTACCACCCATAGCTTCCCCACACCCGGCCTGCACTTGGTCACCATGACGGCAGGGAACCCGCTGGGCTCAGCCAACGCCACCGTGGAAGTGGATGTGCAGGTGCCTGTGAGTGGCCTCAGCATCAGGGCCAGCGAGCCCGGAGGCAGCTTCGTGGCGGCCGGGTCCTCTGTGCCCTTTTGGGGGCAGCTGGCCACGGGCACCAATGTGAGCTGGTGCTGGGCTGTGCCCGGCGGCAGCAGCAAGCGTGGCCCTCATGTCACCATGGTCTTCCCGGATGCTGGCACCTTCTCCATCCGGCTCAATGCCTCCAACGCAGTCAGCTGGGTCTCAGCCACGTACAACCTCACGGCGGAGGAGCCCATCGTGGGCCTGGTGCTGTGGGCCAGCAGCAAGGTGGTGGCGCCCGGGCAGCTGGTCCATTTTCAGATCCTGCTGGCTGCCGGCTCAGCTGTCACCTTCCGCCTGCAGGTCGGCGGGGCCAACCCCGAGGTGCTCCCCGGGCCCCGTTTCTCCCACAGCTTCCCCCGCGTCGGAGACCACGTGGTGAGCGTGCGGGGCAAAAACCACGTGAGCTGGGCCCAGGCGCAGGTGCGCATCGTGGTGCTGGAGGCCGTGAGTGGGCTGCAGGTGCCCAACTGCTGCGAGCCTGGCATCGCCACGGGCACTGAGAGGAACTTCACAGCCCGCGTGCAGCGCGGCTCTCGGGTCGCCTACGCCTGGTACTTCTCGCTGCAGAAGGTCCAGGGCGACTCGCTGGTCATCCTGTCGGGCCGCGACGTCACCTACACGCCCGTGGCCGCGGGGCTGTTGGAGATCCAGGTGCGCGCCTTCAACGCCCTGGGCAGTGAGAACCGCACGCTGGTGCTGGAGGTTCAGGACGCCGTCCAGTATGTGGCCCTGCAGAGCGGCCCCTGCTTCACCAACCGCTCGGCGCAGTTTGAGGCCGCCACCAGCCCCAGCCCCCGGCGTGTGGCCTACCACTGGGACTTTGGGGATGGGTCGCCAGGGCAGGACACAGATGAGCCCAGGGCCGAGCACTCCTACCTGAGGCCTGGGGACTACCGCGTGCAGGTGAACGCCTCCAACCTGGTGAGCTTCTTCGTGGCGCAGGCCACGGTGACCGTCCAGGTGCTGGCCTGCCGGGAGCCGGAGGTGGACGTGGTCCTGCCCCTGCAGGTGCTGATGCGGCGATCACAGCGCAACTACTTGGAGGCCCACGTTGACCTGCGCGACTGCGTCACCTACCAGACTGAGTACCGCTGGGAGGTGTATCGCACCGCCAGCTGCCAGCGGCCGGGGCGCCCAGCGCGTGTGGCCCTGCCCGGCGTGGACGTGAGCCGGCCTCGGCTGGTGCTGCCGCGGCTGGCGCTGCCTGTGGGGCACTACTGCTTTGTGTTTGTCGTGTCATTTGGGGACACGCCACTGACACAGAGCATCCAGGCCAATGTGACGGTGGCCCCCGAGCGCCTGGTGCCCATCATTGAGGGTGGCTCATACCGCGTGTGGTCAGACACACGGGACCTGGTGCTGGATGGGAGCGAGTCCTACGACCCCAACCTGGAGGACGGCGACCAGACGCCGCTCAGTTTCCACTGGGCCTGTGTGGCTTCGACACAG___AGGGAGGCTGGCGGGTGTGCGCTGAACTTTGGGCCCCGCGGGAGCAGCACGGTCACCATTCCACGGGAGCGGCTGGCGGCTGGCGTGGAGTACACCTTCAGCCTGACCGTGTGGAAGGCCGGCCGCAAGGAGGAGGCCACCAACCAGACG___GTGCTGATCCGGAGTGGCCGGGTGCCCATTGTGTCCTTGGAGTGTGTGTCCTGCAAGGCACAGGCCGTGTACGAAGTGAGCCGCAGCTCCTACGTGTACTTGGAGGGCCGCTGCCTCAATTGCAGCAGCGGCTCCAAGCGAGGG___CGGTGGGCTGCACGTACGTTCAGCAACAAGACGCTGGTGCTGGATGAGACCACCACATCCACGGGCAGTGCAGGCATGCGACTGGTGCTGCGGCGGGGCGTGCTGCGGGACGGCGAGGGATACACCTTCACGCTCACGGTGCTGGGCCGCTCTGGCGAGGAGGAGGGCTGCGCCTCCATCCGCCTGTCCCCCAACCGCCCGCCGCTGGGGGGCTCTTGCCGCCTCTTCCCACTGGGCGCTGTGCACGCCCTCACCACCAAGGTGCACTTCGAATGCACGG___GCTGGCATGACGCGGAGGATGCTGGCGCCCCGCTGGTGTACGCCCTGCTGCTGCGGCGCTGTCGCCAGGGCCACTGCGAGGAGTTCTGTGTCTACAAGGGCAGCCTCTCCAGCTACGGAGCCGTGCTGCCCCCGGGTTTCAGGCCACACTTCGAGGTGGGCCTGGCCGTGGTGGTGCAGGACCAGCTGGGAGCCGCTGTGGTCGCCCTCAACAG___GTCTTTGGCCATCACCCTCCCAGAGCCCAACGGCAGCGCAACGGGGCTCACAGTCTGGCTGCACGGGCTCACCGCTAGTGTGCTCCCAGGGCTGCTGCGGCAGGCCGATCCCCAGCACGTCATCGAGTACTCGTTGGCCCTGGTCACCGTGCTGAACGAG___TACGAGCGGGCCCTGGACGTGGCGGCAGAGCCCAAGCACGAGCGGCAGCACCGAGCCCAGATACGCAAGAACATCACGGAGACTCTGGTGTCCCTGAGGGTCCACACTGTGGATGACATCCAGCAGATCGCTGCTGCGCTGGCCCAGTGCATG___GGGCCCAGCAGGGAGCTCGTATGCCGCTCGTGCCTGAAGCAGACGCTGCACAAGCTGGAGGCCATGATGCTCATCCTGCAGGCAGAGACCACCGCGGGCACCGTGACGCCCACCGCCATCGGAGACAGCATCCTCAACATCACAG___GAGACCTCATCCACCTGGCCAGCTCGGACGTGCGGGCACCACAGCCCTCAGAGCTGGGAGCCGAGTCACCATCTCGGATGGTGGCGTCCCAGGCCTACAACCTGACCTCTGCCCTCATGCGCATCCTCATGCGCTCCCGCGTGCTCAACGAGGAGCCCCTGACGCTGGCGGGCGAGGAGATCGTGGCCCAGGGCAAGCGCTCGGACCCGCGGAGCCTGCTGTGCTATGGCGGCGCCCCAGGGCCTGGCTGCCACTTCTCCATCCCCGAGGCTTTCAGCGGGGCCCTGGCCAACCTCAGTGACGTGGTGCAGCTCATCTTTCTGGTGGACTCCAATCCCTTTCCCTTTGGCTATATCAGCAACTACACCGTCTCCACCAAGGTGGCCTCGATGGCATTCCAGACACAGGCCGGCGCCCAGATCCCCATCGAGCGGCTGGCCTCAGAGCGCGCCATCACCGTGAAGGTGCCCAACAACTCGGACTGGGCTGCCCGGGGCCACCGCAGCTCCGCCAACTCCGCCAACTCCGTTGTGGTCCAGCCCCAGGCCTCCGTCGGTGCTGTGGTCACCCTGGACAGCAGCAACCCTGCGGCCGGGCTGCATCTGCAGCTCAACTATACGCTGCTGGACG___GCCACTACCTGTCTGAGGAACCTGAGCCCTACCTGGCAGTCTACCTACACTCGGAGCCCCGGCCCAATGAGCACAACTGCTCGGCTAGCAGGAGGATCCGCCCAGAGTCACTCCAGGGTGCTGACCACCGGCCCTACACCTTCTTCATTTCCCCGGG___GAGCAGAGACCCAGCGGGGAGTTACCATCTGAACCTCTCCAGCCACTTCCGCTGGTCGGCGCTGCAGGTGTCCGTGGGCCTGTACACGTCCCTGTGCCAGTACTTCAGCGAGGAGGACATGGTGTGGCGGACAGAGGGGCTGCTGCCCCTGGAGGAGACCTCGCCCCGCCAGGCCGTCTGCCTCACCCGCCACCTCACCGCCTTCGGCGCCAGCCTCTTCGTGCCCCCAAGCCATGTCCGCTTTGTGTTTCCT___GAGCCGACAGCGGATGTAAACTACATCGTCATGCTGACATGTGCTGTGTGCCTGGTGACCTACATGGTCATGGCCGCCATCCTGCACAAGCTGGACCAGTTGGATGCCAGCCGGGGCCGCGCCATCCCTTTCTGTGGGCAGCGGGGCCGCTTCAAGTACGAGATCCTCGTCAAGACAGGCTGGGGCCGGGGCTCAG___GTACCACGGCCCACGTGGGCATCATGCTGTATGGGGTGGACAGCCGGAGCGGCCACCGGCACCTGGACGGCGACAGAGCCTTCCACCGCAACAGCCTGGACATCTTCCGGATCGCCACCCCGCACAGCCTGGGTAGCGTGTGGAAGATCCGAGTGTGGCACGACAACAAAG___GGCTCAGCCCTGCCTGGTTCCTGCAGCACGTCATCGTCAGGGACCTGCAGACGGCACGCAGCGCCTTCTTCCTGGTCAATGACTGGCTTTCGGTGGAGACGGAGGCCAACGGGGGCCTGGTGGAGAAGGAGGTGCTGGCCGCGA___GCGACGCAGCCCTTTTGCGCTTCCGGCGCCTGCTGGTGGCTGAGCTGCAGCGTGGCTTCTTTGACAAGCACATCTGGCTCTCCATATGGGACCGGCCGCCTCGTAGCCGTTTCACTCGCATCCAGAGGGCCACCTGCTGCGTTCTCCTCATCTGCCTCTTCCTGGGCGCCAACGCCGTGTGGTACGGGGCTGTTGGCGACTCTGCCTACAG___CACGGGGCATGTGTCCAGGCTGAGCCCGCTGAGCGTCGACACAGTCGCTGTTGGCCTGGTGTCCAGCGTGGTTGTCTATCCCGTCTACCTGGCCATCCTTTTTCTCTTCCGGATGTCCCGGAGCAAG___GTGGCTGGGAGCCCGAGCCCCACACCTGCCGGGCAGCAGGTGCTGGACATCGACAGCTGCCTGGACTCGTCCGTGCTGGACAGCTCCTTCCTCACGTTCTCAGGCCTCCACGCTGAG___CAGGCCTTTGTTGGACAGATGAAGAGTGA)CTTGTTTCTGGATGATTCTAAGAG|TGACCTTGAGGAACCCTGGGAGCTCAGGAAGGAAGGAGCGCCCAGAAGCAGGGACAGGGAGCTGGTTGGGGAGGACCAGAAATCAG___GTTATCAATACTCTGGCTGACCATCGTCATCG(TGAGACTGACTTTGGTGGAAGTCCTTGGATAATTATCATTATTGTGTTTCTGGGACGTTACAAATTTACCATTCTCTTCTGCACAATTTACCTTTGT___GTGCCTTTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATAGATCCAGGGATGTACAGCAGAGAGCTAGGAGGTCCAACCGCCGTAGACAGGAAG___GAATTAAAATTGGCCTGGAAGACATCTGTACTTTATGGAAACAGGCGGAAACAAAAGTTCAAGCTAAAATCCGTAAGATGAAGGTCACAAAGAAAGTCAACCATCATTACAAAATCAATGGAAAGAGGAAGACCGCCAAAGAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGTGGCGGGCAGAGGACTACCACAAATGCAAA___ATCACCCCCTCTGCAAGAAAGCCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCGCCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAATGTCTTCTTATTCCCCTTCCACCCTCTCCTCTTCCACCCTCCGTGGATGATAATCTCAAGACTCCTCCCTTAGCTACTCAGGAGGCCGAGGCAGAAAAATCACTGAAACCCAAGAGGCAGAGGTTGAGTAAGCTGAGAACAGGTCATTGCACTCAAGCCTGGGCAATAAGAAGAAATCTGTGAGTGGAACAAAAGAAAAAAATCAAAAAACAAAACAAA)$ MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKs|dleepwelrkegaprsrdrelvgedqksgyqysg* 14BR005 ENSG00000120875.9 ENSG00000249859.11 -/- +/- chr8:29349846 chr8:127902262 CDS/splice-site intron duplication/5'-5' 9 44 1 188 203 high out-of-frame . Rhodanese-like_domain(100%)| . . ENSG00000120875.9 ENSG00000249859.11 ENST00000240100.7 . upstream downstream duplicates(1) ^(CTGGCTGGGGCAGTGCGCTGAGCGCCGGAGGAGCGTAGGCAGGGCAGCGCTGGCGCCAGTGGCGACAGGAGCCGCGCGACCGGCAAAAATACACGGGAGGCCGTCGCCGAAAAGAGTCCGCGGTCCTCTCTCGTAAACACACTCTCCTCCACCGGCGCCTCCCCCTCCGCTCTGCGCGCCGCCCGGCTGGGCGCCCGAGGCCGCTCCGACTGCTATGTGACCGCGAGGCTGCGGGAGGAAGGGGACAGGGAAGAAGAGGCTCTCCCGCGGGAGCCCTTGAGGACCAAGTTTGCGGCCACTTCTGCAGGCGTCCCTTCTTAGCTCTCGCCCGCCCCTTTCTGCAGCCTAGGCGGCCCGGGTTCTCTTCTCTTCCTCGCGCGCCCAGCCGCCTCGGTTCCCGGCGACCATGGTGACGATGGAGGAGCTGCGGGAGATGGACTGCAGTGTGCTCAAAAGGCTGATGAACCGGGACGAGAATGGCGGCGGCGCGGGCGGCAGCGGCAGCCACGGCACCCTGGGGCTGCCGAGCGGCGGCAAGTGCCTGCTGCTGGACTGCAGACCGTTCCTGGCGCACAGCGCGGGCTACATCCTAGGTTCGGTCAACGTGCGCTGTAACACCATCGTGCGGCGGCGGGCTAAGGGCTCCGTGAGCCTGGAGCAGATCCTGCCCGCCGAGG)AGGAGGTACGCGCCCGCTTGCGCTCCGGCCTCTACTCGGCGGTCATCGTCTACGACGAGCGCAGCCCGCGCGCCGAGAGCCTCCGCGAGGACAGCACCGTGTCGCTGGTGGTGCAGGCGCTGCGCCGCAACGCCGAGCGCACCGACATCTGCCTGCTCAAAG|GTAGGGTGAACGACCATCCCAGTTTGCACAGGACTGAGGAGGTTCCCAGAGTGTTGGACTTTCCGTGCCAAAACCAGGAAAGTCTCTGGCAAACCAGGACAAGTTGGCCATTCTGTTCACAG___ACGCAACAGGAAGCTTCTGGGGCCCCCCAGTGAGCAGAAAGCTGAGAGCTGGGGGCCAGCCAGTGTTTATTTGTTTAT...___GCTCAAGATGATTAAGATGC MVTMEELREMDCSVLKRLMNRDENGGGAGGSGSHGTLGLPSGGKCLLLDCRPFLAHSAGYILGSVNVRCNTIVRRRAKGSVSLEQILPAEEEVRARLRSGLYSAVIVYDERSPRAESLREDSTVSLVVQALRRNAERTDICLLK|grvndhpslhrteevprvldfpcqnqeslwqtrtswpfcsqtqqeasgapq* 14BR005 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 12 23 0 65 135 high . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000369458.8 upstream downstream low_entropy(2) GTACAATCCTCCCGAGACCTTAGGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG___GGAGACACTCCATCACAGTCACTACTGTCGCCTCAGCTGGGAACATTGGGGAGGATGGAATCCTGAGCTGCACTTTTGAACCTGACATCAAACTTTCTGATATCGTGATACAATGGCTGAAGGAAGGTGTTTTAGGCTTGGTCCATGAGTTCAAAGAAGGCAAAGATGAGCTGTCGGAGCAGGATGAAATGTTCAGAGGCCGGACAGCAGTGTTTGCTGATCAAGTGATAGTTGGCAATGCCTCTTTGCGGCTGAAAAACGTGCAACTCACAGATGCTGGC(ACCTACAAATGTTATATCATCACTTCTAAAGGCAAGGGGAATGCTAACCTTGAGTATAAAACTGGAG___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACCA)$ . 14BR005 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 14 16 1 37 38 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(2),mismappers(1),mismatches(3) CATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATG(GAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 14BR005 ENSG00000213958.2(12786),ENSG00000150722.10(10604) ENSG00000150722.10 ./+ +/+ chr2:181975264 chr2:182061442 intergenic CDS/splice-site deletion/read-through 16 12 1 58 101 high . . . . . . ENSG00000150722.10 . ENST00000409137.7 downstream upstream duplicates(1) AGGACACAGTGAAAAATGTACCGAGACCTTGGAGAGCCACGAACCAAGAAACTTCAGAAACCTCTGATATCTGATCAAGAGTTAAGAGACGTCAGAATCATCACAACTGACAAAAG___AATGTTTTCTCTCTTCAAGATTCTCTTTTGAAAGACATCTAAAAAG|AAATAGATGACAAGAGGGGGCCCAACACACAAGGGGAA___TTACAGAATGCATCCCCTAAGCAAAGGAAGCAGAGTGTGTACACACCACCCACCATAAAAG___GGGTTAAGCATCTGAAAGGCCAGAATGAATCAGCATTCCCTGAAGAAGAAGAAGGCACCAATGAAAGAGAGGAGCAGCGGGACCATTAATTACTG(___GTGCAAAATGAGTTGATAACAACCAGAAGTTGACTTGTTAGTGCTGTGCTTCTACTCGAGCTTGGAAAAATCCCAACACAAAACAAACACCACCTCCGATTCCATCATGATGCCACGTTGCTTTCTACTGGATTACCTCCTGAAGCACTTTAGATATTTTATACATAAGTATTGACATGTTTTTCAGAAGCTGTTTCTTCACTTATTGCTTTTTTCTAATAATTTTTATTACACCATTTGCCAAGTCCTTCCCTTTGGTTTTAGTTTATTCCTCTCTACAACTAAAAAAGGGATCTTGAGTTTAGGTACATTTTAAGTGATTCATTTTTAGTTTTTCTAATTCTGGAATCTGAGCCTTCTCTTACAACAGGGAGTCTTTCAAAAACATTTTTTTGTTTCTTTTTCAAATTCCACTGTGTTTATTTATTGCCTTGTTTCTTTTTCAAATTCCATTGGTCTTGATTTAATTTAGTTCCACAGATTTTACTGATAGTCTACTACCTGCCAACTACTGAATTATGCAGCAGACTTATAAAAATAAAAAGGCTATTTTATTGTTATTGCCATCCTGCTAGTAAAGATTTATTCAATTATTTATAATTAATTAAGTGGCTTCACCTATATTTCTGTTAATAATCACATTAATTATGTATGACAGGTAGGATTTATGTTATAGATAAGAAAACTAGAGTCCAAAGAAAATAAGTGTCCCCAAATGAACCAATAATCCAACAAACGCTTCCACTAACTAGCTTCTGACCTGTTTGAGTTGTGATAGATTTTAGAATAAAAAAGCCTATCCTCCTTAGGAGCCATAGACTTTTATTCTTTCTTATACTGTCTTATATATTGACTTAGAGCTAAACTTCCTCCAATTCAGACATAAAGCATAGGCAGATACTTTTGCTAATGAGGCTAAGCTGGGAAGAAAACCCTGAGTTCTACTTTAATTCTTGGGCATTGACTTCAAACTAAGATGACTTATAAGAAATAAAAGAAGTAAATTTGAAACTTTAATAAAAAAAGTACATGGTTCATTTAAAAATGTTTCCTATGTCTAAATCTATATTTTAAAAATAACCTTTATCATGTAAAATGAGAGAATTGCTGAGTTTATGACAATCTTAGGTATAACCTTTTCTTAAAGAACAAGGCATCAATCTTTAATTTGTTTCCCTTTCTTGATTTCTCATAAGTTGCAAAATAAAAATAAAAATAATTTCACAAATTGTTCATTATTATTATCCTCCCTACTTGCCCCAGGATTTAAGTACTAACTTTTACTTCCTACTCTTAGACTTTGTATTGCCAAAGAAATAAAATATGAAAAAGCATAATCACCCAGACCTACCTGCGGAATTGTGGATTATGCTGTAGATATTAGATCATTGAAAGGAACAATATACTACTTAATGAGGAGCCAAAGACAACATTCTACCTGCTGCTCCCTTCAAGCTGAGGAATGAGTTTAATTGACTTCAAAGTCCCATTATTCTCAAAAGTAGCAAAGGTACAACATGGCTTTGCATGAATCAAAGGAAGGGAACAACAAGAACTTAAAAAAATAGTTTGCAGATGGTTGAACATCTCTTTAATAATTAGAGAAGAATATCTTTTCTTTCTTTATTGTTTACAGATACCAACATTTTTCAAAGCCTTGCAGTAGATGAGTGAGTCTCCTGTTACATTTCTCCTGCAGCATATATTCTGTGGATGTGTTTTCCTAAGCAGACTAATTATATGTTGCTCTCTTCTTTTACCCTAATGAAACATAGATTTTTCTGTTTTGAATTTGTCACTTGTTTGTTACATTTGTCAAGTGTTTTAAATATTACATTGGTCCTTTATTTGCTTTTGAGAACACCCAATAGTTTAAAAATTAAAATGACATGAAGGTCAATTCTAAGACAGGAATGATACTACTAAATCCTGGACTTGCCTATGATAACAAGCTCGAGCTACACACTTTTATTGTCAGAATAAATGGAATATATAGGAAGGAGTTAATTGGAACTGGTTAGTACCTAAATAAGATTTTTCAAAGTAAGTTTTTTGTCGTATTGGCAGAACAGTGTTAAAAAATAGACATTGTCATCATAAACACCCACAACTATATCTGTAGAAGATAATTTAATGCAATATTCTGGGGAAAATACAGTTGCCAAAATTAATCTCCTTGTTTTCTTTCATTGTGCAATGTGGAGTTAAATTTTTTTTCTATTGAGCAGTGTGTGTGTGTGTTTGTGTCTATAATTTATATATGTGCTTGTATACATTTCTATATACACATGTATGTGTATGCAAAATATGTATATATACACATATATATAAAATGTACACTAAATATGTATATATGTATATTCATAAAATGTTTTGCTGTATGGAAATAAAAAAGAAGGTTTCTAAAGGAAAGATAGAGAAGAAA)$ . 14BR005 ENSG00000104447.12 ENSG00000175606.11 -/- +/+ chr8:115587001 chr8:73978756 CDS/splice-site CDS/splice-site inversion 10 9 0 488 124 high in-frame . |Assembly__mitochondrial_proton-transport_ATP_synth_complex(100%) . . ENSG00000104447.12 ENSG00000175606.11 ENST00000395715.7 ENST00000312184.6 upstream upstream mismatches(1) ^(AATAGTGTTGGTGTCTTGAAACTGACGTAATGCGCGGAGACTGAGGTCCTGACAAGCGATAACATTTCTGATAAAGACCCGATCTTACTGCAATCTCTAGCGTCCTCTTTTTTGGTGCTGCTGGTTTCTCCAGACCTCGCGTCCTCTCGATTGCTCTCTCGCCTTCCTATTTCTTTTTTTTTTTTTTAAACAAAAAACAACACCCCCTCCCCTCTCCCACCCGGCACCGGGCACATCCTTGCTCTATTTCCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTTTTAATAAGGGTGGGGGAGGGAAAGGGGGGGGAGGCAGGAAAGACCTTTTTCTCTCCCCCCCGCAATAATCCAAGATCAACTCTGCAAACAACAGAAGACGGTTCATGGCTTTGGCCGCCGCGCCACCATCTTTCGGGCTGCCGAGGGTGTTCTTGACGATTAATCAACAG___ATGTACAGATCAGCTCTCAAAATGTCTTCTGTGTCTTCTGAGCGTCTTCTAAGACAATTGCATTAGCCTCCTGCTAGTTGACTAATAGAATTAATAATTGTAAAAAGCACTCTAAAGCCACATGCCTTATGAAGTCAATGCTGGGTATGATTTTACAA___ATATGGTCCGGAAAAAGAACCCCCCTCTGAGAAACGTTGCAAGTGAAGGCGAGGGCCAGATCCTGGAGCCTATAGGTACAGAAAGCAAGGTATCTGGAAAGAACAAAGAATTTTCTGCAGATCAGATGTCAGAAAATACGGATCAGAGTGATGCTGCAGAACTAAATCATAAGGAGGAACATAGCTTGCATGTTCAAGATCCATCTTCTAGCAGTAAGAAGGACTTGAAAAGCGCAGTTCTGAGTGAGAAGGCTGGCTTCAATTATGAAAGCCCCAGTAAGGGAGGAAACTTTCCCTCCTTTCCGCATGATGAGGTGACAGACAGAAATATGTTGGCTTTCTCATCTCCAGCTGCTGGGGGAGTCTGTGAGCCCTTGAAGTCTCCGCAAAGAGCAGAGGCAGATGACCCTCAAGATATGGCCTGCACCCCCTCAGGGGACTCACTGGAGACAAAGGAAGATCAGAAGATGTCACCAAAGGCTACAGAGGAAACAGGGCAAGCACAGAGTGGTCAAGCCAATTGTCAAGGTTTGAGCCCAGTTTCAGTGGCCTCAAAAAACCCACAAGTGCCTTCAGATGGGGGTGTAAGACTGAATAAATCCAAAACTGACTTACTGGTGAATGACAACCCAGACCCGGCACCTCTGTCTCCAGAGCTTCAGGACTTTAAATGCAATATCTGTGGATATGGTTACTACGGCAACGACCCCACAGATCTGATTAAGCACTTCCGAAAGTATCACTTAGGACTGCATAACCGCACCAGGCAAGATGCTGAGCTGGACAGCAAAATCTTGGCCCTTCATAACATGGTGCAGTTCAGCCATTCCAAAGACTTCCAGAAGGTCAACCGTTCTGTGTTTTCTGGTGTGCTGCAGGACATCAATTCTTCAAGGCCTGTTTTACTAAATGGGACCTATGATGTGCAG___GTGACTTCAGGTGGAACATTCATTGGCATTGGACGGAAAACACCAGATTGCCAAGGGAACACCAAGTATTTCCGCTGTAAATTCTGCAATTTCACTTATATGGGCAACTCATCCACCGAATTAGAACAACATTTTCTTCAGACTCACCCAAACAAAATAAAAGCTTCTCTCCCCTCCTCTGAGGTTGCAAAACCTTCAGAGAAAAACTCTAACAAGTCCATCCCTGCACTTCAATCCAGTGATTCTGGAGACTTGGGAAAATGGCAGGACAAGATAACAGTCAAAGCAGGAGATGACACTCCTGTTGGGTACTCAGTGCCCATAAAGCCCCTCGATTCCTCTAGACAAAATGGTACAGAGGCCACCAGTTACTACTGGTGTAAATTTTGTAGTTTCAGCTGTGAGTCATCTAGCTCACTTAAACTGCTAGAACATTATGGCAAGCAGCACGGAGCAGTGCAGTCAGGCGGCCTTAATCCAGAGTTAAATGATAAGCTTTCCAGGGGCTCTGTCATTAATCAGAATGATCTAGCCAAAAGTTCAGAAGGAGAGACAATGACCAAGACAGACAAGAGCTCGAGTGGGGCTAAAAAGAAGGACTTCTCCAGCAAGGGAGCCGAGGATAATATGGTAACGAGCTATAATTGTCAGTTCTGTGACTTCCGATATTCCAAAAGCCATGGCCCTGATGTAATTGTAGTGGGGCCACTTCTCCGTCATTATCAACAGCTCCATAACATTCACAAGTGTACCATTAAACACTGTCCATTCTGTCCCAGAGGACTTTGCAGCCCAGAAAAGCACCTTGGAGAAATTACTTATCCGTTTGCTTGTAGAAAAAGTAATTGTTCCCACTGTGCACTCTTGCTTCTGCACTTGTCTCCTGGGGCGGCTGGAAGCTCGCGAGTCAAACATCAGTGCCATCAGTGTTCATTCACCACCCCTGACGTAGATGTACTCCTCTTTCACTATGAAAGTGTGCATGAGTCCCAAGCATCGGATGTCAAACAAGAAGCAAATCACCTGCAAGGATCGGATGGGCAGCAGTCTGTCAAGGAAAGCAAAGAACACTCATGTACCAAATGTGATTTTATTACCCAAGTGGAAGAAGAGATTTCCCGACACTACAG___GAGAGCACACAGCTGCTACAAATGCCGTCAGTGCAGTTTTACAGCTGCCGATACTCAGTCACTACTGGAGCACTTCAACACTGTTCACTGCCAGGAACAGGACATCACTACAGCCAACGGCGAAGAGGACGGTCATGCCATATCCACCATCAAAGAGGAGCCCAAAATTGACTTCAGGGTCTACAATCTGCTAACTCCAGACTCTAAAATGGGAGAGCCAGTTTCTGAGAGTGTGGTGAAGAGAGAGAAGCTGGAAGAGAAG)GACGGGCTCAAAGAGAAAGTTTGGACCGAGAGTTCCAGTGATGACCTTCGCAATGTGACTTGGAGAGGGGCAGACATCCTGCGGGGGAGTCCGTCATACACCCAAGCAAGCCTGGGGCTGCTGACGCCTGTGTCTGGCACCCAAGAGCAGACAAAGACTCTAAGGGATAGTCCCAATGTGGAGGCCGCCCATCTGGCGCGACCTATTTATGGCTTGGCTGTGGAAACCAAGGGATTCCTGCAGGGGGCGCCAGCTGGCGGAGAGAAGTCTGGGGCCCTCCCCCAGCAGTATCCTGCATCGGGAGAAAACAAGTCCAAGGATGAATCCCAGTCCCTGTTACGG|ATCCCTGTTTATTGGGAAGGATATGTTCGATTCTTAAATACGCCATCTGACAAATCAGAAGATGGAAGGCTAATTTATACTGGCAATATGGCCCGAGCAGTGTTTG___GTGTGAAATGTTTCTCTTATTCTACGAGTCTGATTGGCCTTACATTTCTGCCATACATTTTTACACAAAATAATGCTATTTCTGAAAGTGTGCCTCTGCCTATTCAAATCATATTCTAT(GGCATCATGGGAAGCTTTACGGTGATCACCCCAGTGCTGCTTCACTTTATTACAAAAGGCTATGTCATTCGATTGTACCATGAGGCCACAACAGACACTTATAAAGCCATTACCTACAATGCTATGCTTGCAGAAACGAGTACAGTGTTTCACCAGAATGATGTGAAGATTCCAGATGCTAAACATGTATTTACCACATTTTATGCTAAAACAAAATCACTGTTAGTTAATCCAGTGCTCTTTCCAAACCGTGAAGACTATATCCATCTAATGGGTTATGACAAAGAAGAATTTATTTTGTATATGGAAGAAACCAGTGAAGAGAAACGGCATAAAGATGACAAATGAGCCTATTTGTTAGTGTTCGTGCTCAAATGTGATTTACGTTTTAATGTATAATAATAAAATTGCCTTTTGCATTCCGTTAGTGACTGATTGTTAAAAATAATTTGAAATTATCAAAGCTTTTAATTTCCAGAGAATGATGTTTGTTTATAATAAAACAAGCTATGTTTGAAAACCAAAATGTAGTATCTACCATTCGTGTTTTAGAAAGGTATGTGAATAAATATGTTCATGCTAGTATAAGAGTTCTGTGTTACTGTGGTTGACTCTAAACTGGGGATCTGATGTCAGTAGCAAATGGGAGAGTTGCTTTATTCTTTGTGTATGGATTTTTCTAAGTGTATAAATATTTTCCGACATTAAAAGACATTTTCTCTTTGAGGAAGACACAGTCATAGGTGGTGCGGAGCTGTGGTCCACCTGCTCCTGCTCCTGACTCACTGCTCTTTGCTGTTGCCTGAGGACCAAGTCTGTCAGGAAGCTGGCTAGGAAGCCTTGCAGCAGCCATGGCTTTTAAACATACCAGAAAAACACCCGTGGAGTCAGAGGTGGCAATTCACCGAATTCATATCACTCTAACGAGTTGCAACGTAAAATCCCTGGATAAGGTGTGTGCTGACTTGATCTGAGGAGCAAAGGAAAAGAATCAGTGAAAGGACCAGTTTGAATGCCTACCAAGACTTTGAGAATCACTACAAGAAAAACTTACGGTGAAGGTTCTAAGGCATGGGATCGTTTCCAGATGAGAATCCACAAGCGACTCATTGACTTGCGCAGTCCTCAGATAGTTAAGCAGATTACTTCCATCAGTATTGAGCCAGGAGTTGAGATGGAAGTCACCATTGCAAATGCTTAAGTCAACTGTTTTCATAAATTGATTACCAGTTGTTAAAAAATTTTCAAAAAACCGCAAAATTTCAAGAAATTCACAAATTATGGGAGCAGTTTTAAGTCTTCTTTGGTTCAGAACACAGGTTTTTGCCTAACCCCTGGCATGATTGCCCATAAGAACATACATGTACAGTTGAACTGGTGGTTAGCTATACGGGAAATGGTAAGTAGTGTTGTCTTCAGTATCTTAATTTGTTTCTGCAACTGTGCACTCCTCCCTTGGTGGCACCCTATGGGTGTAGGAAAACCACTGTTATTAAACAGGTGAAAAATA)$ MPYEVNAGYDFTNMVRKKNPPLRNVASEGEGQILEPIGTESKVSGKNKEFSADQMSENTDQSDAAELNHKEEHSLHVQDPSSSSKKDLKSAVLSEKAGFNYESPSKGGNFPSFPHDEVTDRNMLAFSSPAAGGVCEPLKSPQRAEADDPQDMACTPSGDSLETKEDQKMSPKATEETGQAQSGQANCQGLSPVSVASKNPQVPSDGGVRLNKSKTDLLVNDNPDPAPLSPELQDFKCNICGYGYYGNDPTDLIKHFRKYHLGLHNRTRQDAELDSKILALHNMVQFSHSKDFQKVNRSVFSGVLQDINSSRPVLLNGTYDVQVTSGGTFIGIGRKTPDCQGNTKYFRCKFCNFTYMGNSSTELEQHFLQTHPNKIKASLPSSEVAKPSEKNSNKSIPALQSSDSGDLGKWQDKITVKAGDDTPVGYSVPIKPLDSSRQNGTEATSYYWCKFCSFSCESSSSLKLLEHYGKQHGAVQSGGLNPELNDKLSRGSVINQNDLAKSSEGETMTKTDKSSSGAKKKDFSSKGAEDNMVTSYNCQFCDFRYSKSHGPDVIVVGPLLRHYQQLHNIHKCTIKHCPFCPRGLCSPEKHLGEITYPFACRKSNCSHCALLLLHLSPGAAGSSRVKHQCHQCSFTTPDVDVLLFHYESVHESQASDVKQEANHLQGSDGQQSVKESKEHSCTKCDFITQVEEEISRHYRRAHSCYKCRQCSFTAADTQSLLEHFNTVHCQEQDITTANGEEDGHAISTIKEEPKIDFRVYNLLTPDSKMGEPVSESVVKREKLEEKDGLKEKVWTESSSDDLRNVTWRGADILRGSPSYTQASLGLLTPVSGTQEQTKTLRDSPNVEAAHLARPIYGLAVETKGFLQGAPAGGEKSGALPQQYPASGENKSKDESQSLLR|IPVYWEGYVRFLNTPSDKSEDGRLIYTGNMARAVFGVKCFSYSTSLIGLTFLPYIFTQNNAISESVPLPIQIIFYGIMGSFTVITPVLLHFITKGYVIRLYHEATTDTYKAITYNAMLAETSTVFHQNDVKIPDAKHVFTTFYAKTKSLLVNPVLFPNREDYIHLMGYDKEEFILYMEETSEEKRHKDDK* 14BR005 ENSG00000178538.10 ENSG00000278428.1(138883),ENSG00000254775.2(13930) -/- ./- chr8:60265925 chr8:60032825 CDS/splice-site intergenic deletion/read-through 7 7 2 99 29 high out-of-frame . Eukaryotic-type_carbonic_anhydrase(100%)| . . ENSG00000178538.10 . ENST00000317995.5 . upstream downstream . ^(AGGCCACAGCCGCTCCCTCGCTCTGCTGGGGCCTCCGGACGCGCTTCCCACGCGGGTCTCTGGAACACTCGGTCCGAACGCACGCCTGCTTGCACTCACACTGCGGTTCACACCCGGAGGCGCTCTCGCACTCACACTGCCGCTCACGCGTGCTCACACTCCCCCACGCGCGCTCCGCTCCGGCTCCAGCCCCGCGCCCAGCGAAGGCGCAGGCACTGCTGCCGAGAGCGCCGAGGGGCCCCGCGGCCTTCCCATGGCGGACCTGAGCTTCATCGAAGATACCGTCGCCTTCCCCGAGAAGGAAGAGGATGAGGAGGAAGAAGAGGAGGGTGTGGAGTGGGGCTACGAGGAAG___GTGTTGAGTGGGGTCTGGTGTTTCCTGATGCTAATGGGGAATACCAGTCTCCTATTAACCTAAACTCAAGAGAGGCTAGGTATGACCCCTCGCTGTTGGATGTCCGCCTCTCCCCAAATTATGTGGTGTGCCGAGACTGTGAAGTCACCAATGATGGACATACC)ATTCAGGTTATCCTGAAGTCAAAATCAG___TTCTTTCGGGAGGACCATTGCCTCAAGGGCATGAATTTGAACTGTACGAAGTGAGATTTCACTGGGGAAGAGAAAACCAGCGTGGTTCTGAGCACACGGTTAATTTCAAAGCTTTTCCCATGGAG|AAGAGAAAATCAAAGTCCCAGAGAGATTAAGTAATTTGACCAATGTCACAAGGCTACTAATTGGAGGGGCTGAAGTGACACCCAATTAATCTGACTCCATGGCTTCTAATCATTATGTAATGGCAATTTCTGGCATCATCAGTACTTTGTAG MADLSFIEDTVAFPEKEEDEEEEEEGVEWGYEEGVEWGLVFPDANGEYQSPINLNSREARYDPSLLDVRLSPNYVVCRDCEVTNDGHTIQVILKSKSVLSGGPLPQGHEFELYEVRFHWGRENQRGSEHTVNFKAFPME|krksksqrd* 14BR005 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 5 0 120 40 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream low_entropy(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAA)CACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 14BR005 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 1 11 0 15 68 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream inconsistently_clipped(1),mismappers(3) GGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGA(TCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 14BR005 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 3 7 0 41 21 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTAT)CAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 14BR005 ENSG00000236193.3(46806),ENSG00000272519.1(52477) ENSG00000030419.16 ./- -/- chr2:213214518 chr2:213148644 intergenic CDS/splice-site deletion/read-through 7 3 0 37 38 high . . |C2H2-type_zinc_finger(100%),Zinc_finger__C2H2_type(100%) . . . ENSG00000030419.16 . ENST00000342002.6 upstream downstream duplicates(1) CAGAGATTCTCCCTTCTTTCTTCCTTCTTCTTGGTATCAGCTGCCTGTAAAGCTTTGCTGGTGCCAGGAAAAGAAGTATTGACAGGCTCCAAGACTG___AGGGTGTCAGAAGCGGGATCTGAAGTGGAGCTTCTAGCGACCCCAGGAGCCCTGAGTGAATATGCAAGGCACCTGCAGGACCCACTGGTGTCCATTGATCTCTCAGAGCGCTGGAGATCGTGG|CATTGCACTTTGACTATGGAAACAGAGGCTATTGATGGCTATATAACGT___GTGACAATGAGCTTTCACCCGAAAGGGAGCACTCCAATATGGCAATTGACCTCACCTCAAGCACACCCAATGGACAGCATGCCTCACCAAGTCACATGACAAGCA___CAAATTCAGTAAAGCTAGAAATGCAGAGTGATGAAGAGTGTGACAGGAAACCCCTGAGCCGTGAAG(ATGAGATCAGGGGCCATGATGAGGGTAGCAGCCTAGAAGAACCCCTAATTGAGAGCAGCGAGGTGGCTGACAACAGGAAAGTCCAGGAGCTTCAAGGCGAGGGAGGAATCCGGCTTCCGAATGGTAAACTGAAATGTGACGTCTGTGGCATGGTTTGCATTGGGCCCAATGTGCTTATGGTACATAAAAGGAGTCACACTG___GTGAACGCCCCTTCCACTGTAACCAGTGTGGAGCTTCTTTTACTCAGAAGGGCAACCTTCTGAGACACATAAAGTTACACTCTGGAGAGAAGCCGTTCAAATGTCCTTTCTGTAGCTACGCCTGTAGAAGAAGGGACGCCCTCACAGGACACCTCAGGACCCATTCTG___TGGGTAAACCTCACAAGTGCAACTACTGTGGACGAAGCTACAAGCAGCGCAGTTCACTGGAGGAGCACAAGGAACGCTGCCACAACTATCTCCAGAATGTCAGCATGGAGGCTGCTGGGCAGGTCATGAGTCACCATG___TACCTCCTATGGAAGATTGTAAGGAACAAGAGCCTATTATGGACAACAATATTTCTCTGGTGCCTTTTGAGAGACCTGCTGTCATAGAGAAGCTCACGGGGAATATGGGAAAACGTAAAAGCTCCACTCCACAAAAGTTTGTGG___GGGAAAAGCTCATGCGATTCAGCTACCCAGATATTCACTTTGATATGAACTTAACATATGAGAAGGAGGCTGAGCTGATGCAGTCTCATATGATGGACCAAGCCATCAACAATGCAATCACCTACCTTGGAGCTGAGGCCCTTCACCCTCTGATGCAGCACCCGCCAAGCACAATCGCTGAAGTGGCCCCAGTTATAAGCTCAGCTTATTCTCAGGTCTATCATCCAAATAGGATAGAAAGACCCATTAGCAGGGAAACTGCTGATAGTCATGAAAACAACATGGATGGCCCCATCTCTCTCATCAGACCAAAGAGTCGACCCCAGGAAAGAGAGGCCTCTCCCAGCAATAGCTGCCTGGATTCCACTGACTCAGAAAGCAGCCATGATGACCACCAGTCCTACCAAGGACACCCTGCCTTAAATCCCAAGAGGAAACAAAGCCCAGCTTACATGAAGGAGGATGTCAAAGCTTTGGATACTACCAAGGCTCCTAAGGGCTCTCTGAAGGACATCTACAAGGTCTTCAATGGAGAAGGAGAACAGATTAGGGCCTTCAAGTGTGAGCACTGCCGAGTCCTTTTCCTAGACCATGTCATGTACACCATTCACATGGGTTGCCATGGCTACCGGGACCCACTGGAATGCAACATCTGTGGCTACAGAAGCCAGGACCGTTATGAGTTTTCATCACACATTGTTCGAGGGGAGCACACATTCCACTAGGCCTTTTCATTCCAAAGGGGACCCCTATGAAGTAAAGAACTGCACATGAAGAAATACTGCACTTACAATCCCACCTTTCCTCAAATGTTGACATACCTTTTATTTTTTTTAATATTATTACTGTTGATAATTCTTATTTTGTGGAGGCAGTGTCATTTGCTCTGCCTAATTACGATAAGGAAGAAACAGAAGAGAGAAGGGGCGGGAATATTGTTTCTTTATCACCTGGCTTGTTTATTTTGTGGGAATTTAAGAGCAGTCCATTTCTACCAAGGCATATCATGCTTTGAAAAATCACTTGATTCATAAAGATTCACCTAAGAGATTCTGATTTGCCACTGATATTCAGAATTATGATGGAAGACAGGAAAGTTCAGAGTTTTCTGGGTAGGACTTTGGTGGTTTAAAAATGGTATAAGTAACTTTATTCTTGAAAGAAGAATGTGTTTCAAACTGTAAACCAATTTTTTGTTCTTCAGAGATCATGGAACACAAACACATTGTTATTTTCAGTGATAACTCCTAAGAGGAGCTGAGTTGTTGTGGGTTCTATGTTTACTTCCCCTATGGAATTTATAATTCAGTATGTTTTACACTGTACCATATAGCAAAACTTTTAAACTACAGGTAGTTAAGGGCCACCTACAATACATCTGAGGTCCTGTGATCTTATTTTTCTAAACGTAAGCACTGTTTTTCCATAGTTTTGATGACTGGCATTTTATAGACACCCTGGCAGCCTTACTTTTAACACCTTTAAGGAATAGTATTTTTATGTAGTTTTCAGAATAACATATGGTCTAAGAGTGGATAAAAGGCAGTCAATAATTTCTGGGAGGGACTTCTACTTTCATAAATTTGTTTGAGAGGTTTTCTTTTAAAGTTGTAATGTGATGGCAGCATAGTATATGTATTTGTTTCTAAAAGTATGCTTACGATTGTCACTTTATCAGCATTTAATCAGTGTTAACCAGTCAGCAGAAAAATATAATTATGCTAACAGTAGGGGGAGAAAACCCACTTAGAAATCCCTTTTCTGGTATTTCTCTTTTCACTAGTTTTTTTCAAGATGTGACCTCCCGGTGTTCTGTCCATAGTTCATTCATCCTTTACTCTTCGAGTAGAAGGTCTTAAAAGTCTTCCTGTCGGCTGTTTCTTTCAAAATCTCCTCAGAGCAATTGCTAATTTGGCCTGAATCTGGTAACTTGAACCCTGTAAGGTTACAGAACTAGGGCTATTTATTTTAGCATTTCTTCAGTAGTATTTACTACTCTTGTTGCAAAGAAAAGGGAATGGGACTTCTTTGTAACCTGTACCTTGGACAACAGATAAAAGAAACAAAAAAATAAGAAAGTTTACTTTTACCCTTCTTGGAGTCTAGAATGTGACAGAACCCCCAAAGGAAAGTCCTGCACATTTTTCTGTTTCCAAAACATTTAATTGTGTAAGTCCTTGTCAGAAATGAATCTCAATCCCTTAGTATAGAATTCCCCTTACATGGTATAGGTTGCCATATTTCATGTGCAGATTTTAATTTCATTTATGTGGGCGCTCTGTTTTTTCTTTGCAGTCCAGCCACATTAGAGGGGAGGAACCGAGTGATATTGATTCAAGTCATTTTAGGGGGACATACTTGGAAGGCAGAACTTGCTGCTTCTGTTTGGGGAGGACAGACCTGACTGTGACTGGATTATCTGATAACCATTTGTGAATACTGAAATTCTGTTAGGCAGTAACTGATAACTGCTCTAAAGGATCATTAAATAGGATGCTGAAATTATGTATCTTAATACAGTGTGGTATGAGAATTACCAAGTCAAGAGAATTGTGGACATAAGCAAGTTTGGCCCCAATACTGCTCTTAACTCATTTTCCAGCTTACTATTTGCTATTTAAATGGTAGGCACCAGCTAAGCACTTCTAAGCACTAACACAGCTAGAACTAGGCAAAAATGGTTAGAACTCAGCTCTCTTCTACTAGTCCCTGTCATAATTAT)$ . 14BR005 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 2 3 0 233 20 high . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000560197.5 upstream downstream . CTCTTGTCACACTCCTGAATGTGGCAGGTCCGTGTCTGGACCGAGGAGCCCTCACATCGGTTGTTGAGGCTATCGCAGGAGCGGCCGCGCTGCTGAATTCCATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG(___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 14BR005 ENSG00000251664.5 ENSG00000248752.3 +/+ -/+ chr5:140877839 chr5:125823150 CDS/splice-site intron duplication/5'-5' 1 3 0 4 14 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%)| . . ENSG00000251664.5 ENSG00000248752.3 ENST00000398631.3 . downstream upstream mismappers(1) ^(ACATTCCAATCATTCACGGAATAGGATCGACTCCATAATGACTGTGATGCTGGAAAAAATTTACTAAATATGTACTTACAGAAAAGGGTGACTGCTCATAAAATACCTCAGGCAAGCGATCCCTTAAAACTGATTGTCCCAACTCAGAGGCCCTCATTTTCTGCAATGGTGATTATCGGACCAAGAGGCCCGGGATCCCAGCGTCTGCTGCTCTCGCTTCTGCTCCTTGCAGCCTGGGAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCTACGAGGAGGCCAAACACGGCACCTTCGTGGGCCGCATCGCTCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGAAGCTGTGCGGGCGGAGCGCGGAGTGCAGTATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCGCCGGTGTTCAGAGAAAGGGAACAAAAGGTACCTGTTTCTGAATCTGCGCCTCTGGACTCTCATTTTCCTCTAGAGGGCGCTTCTGATGCGGATATCGGCGTAAACTCTCTTTTGACCTATGCGTTAAGTCTAAATGAGAATTTTGAGCTTAAAATAAAAACAAAAAAAGATAAAAGTATATTGCCTGAATTAGTTCTTCGGAAGTTATTGGACAGAGAGCAAACGCCAAAACTCAATTTATTGCTGATGGTAATCGATGGCGGTAAACCAGAACTAACAGGGTCTGTCCAGATTCAAATAACCGTCCTGGATGTGAATGACAATGGTCCGGCGTTTGATAAGCCCAGCTATAAAGTAGTGTTGTCTGAAAATGTCCAAAACGACACAAGAGTGATCCAACTAAATGCTTCCGATCCAGACGAAGGACTTAATGGAGAAATTTCCTATGGGATCAAAATGATTTTGCCAGTGAGTGAGAAATGTATGTTTTCAATAAATCCAGACACAGGTGAAATTAGAATTTATGGTGAACTGGATTTTGAAGAGAATAATGCCTATGAAATTCAGGTTAACGCCATTGATAAAGGGATTCCTTCCATGGCAGGTCACAGCATGGTCCTGGTGGAAGTTCTGGACGTGAATGACAATGTCCCTGAAGTAATGGTTACTTCACTGTCGCTCCCTGTGCAAGAGGATGCTCAGGTGGGTACCGTCATTGCCCTGATTAGCGTGTCGGATCGTGACTCTGGAGCCAATGGACAGGTCATCTGCTCACTGACACCTCATGTTCCCTTCAAGCTGGTGTCCACCTACAAGAATTACTACTCGTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGCGTGTCGGCCTATGAGCTGGTGGTGACTGCGCGGGATGGGGGCTCGCCTTCGCTGTGGGCCACGGCTAGAGTGTCCGTGGAGGTGGCCGACGTGAACGACAATGCGCCTGCGTTCGCGCAGCCCGAGTACACAGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGTGTCGGCATGGGACGCGGACGCGCAGAAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCGGCGGGTGGGCGAGCACGCACTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTAGACCACGAGGAGCTGGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCCGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGGCGACTCCGGCTGGCAGCGCAGGAGGCGCAGTTAGCGAGTTGGTACCGCGGTCGGTGGGTGCGGGCCACGTGGTGGCGAAAGTGCGCGCGGTGGACGCTGACTCCGGCTATAACGCTTGGCTGTCCTACGAGTTGCAACCGGCGGCGGTCGGCGCGCACATCCCGTTCCACGTGGGGCTGTACACTGGCGAGATCAGCACGACACGCATCCTGGATGAGGCGGACGCTCCGCGCCACCGCCTGCTGGTGCTGGTGAAGGACCACGGTGAGCCCGCGCTGACGTCCACGGCCACGGTGCTGGTGTCGCTGGTGGAGAACGGCCAGGCCCCAAAGACGTCGTCGCGGGCCTCAGTGGGCGCTGTGGATCCCGAAGCGGCTCTGGTGGATATTAACGTGTACCTCATCATCGCCATCTGTGCGGTGTCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGTTGCTCAGCGCCGCCCACCGTGAGCCGGTGCGCGCCGGGCAAGCCCACGCTGGTGTGCTCCAGCGCCGTGGGGAGTT)GGTCTTACTCGCAGCAGAGGAGGCAGAGGGTGTGCTCTGCAGAGAGCCCGCCCAAGACGGACCTCATGGCCTTCAGCCCAAGCCTTCAGCTGTCTCGAGAAGATTGTTTAAATCCTCCCAGTGAA|AGCTCACGGATCTATCCTAGACCCTAGAAGAGACTACTGTGCACTGGCACATAGACACTTTGACTGCAACGATGGATAGGAAGTTTTACTGATGAGAAGGAACATTCGGACATAGACAGGTTAAGTAATTTTCCCAATTGCAACATATTTCAGAGTTGAC MVIIGPRGPGSQRLLLSLLLLAAWEVGSGQLHYSVYEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHGDLLEVNLQNGILFVNSRIDREKLCGRSAECSIHLEVIVDRPLQVFHVDVEVKDINDNPPVFREREQKVPVSESAPLDSHFPLEGASDADIGVNSLLTYALSLNENFELKIKTKKDKSILPELVLRKLLDREQTPKLNLLLMVIDGGKPELTGSVQIQITVLDVNDNGPAFDKPSYKVVLSENVQNDTRVIQLNASDPDEGLNGEISYGIKMILPVSEKCMFSINPDTGEIRIYGELDFEENNAYEIQVNAIDKGIPSMAGHSMVLVEVLDVNDNVPEVMVTSLSLPVQEDAQVGTVIALISVSDRDSGANGQVICSLTPHVPFKLVSTYKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAWDADAQKNALVSYSLVERRVGEHALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALLATPAGSAGGAVSELVPRSVGAGHVVAKVRAVDADSGYNAWLSYELQPAAVGAHIPFHVGLYTGEISTTRILDEADAPRHRLLVLVKDHGEPALTSTATVLVSLVENGQAPKTSSRASVGAVDPEAALVDINVYLIIAICAVSSLLVLTLLLYTALRCSAPPTVSRCAPGKPTLVCSSAVGSWSYSQQRRQRVCSAESPPKTDLMAFSPSLQLSREDCLNPPSE|ssriyprp* 14BR005 ENSG00000055609.18 ENSG00000181652.19 -/- -/- chr7:152150900 chr7:151024503 CDS/splice-site 5'UTR deletion 3 1 0 193 192 high out-of-frame . PHD-finger(100%),PHD-like_zinc-binding_domain(100%)| . . ENSG00000055609.18 ENSG00000181652.19 ENST00000262189.11 ENST00000639579.1 upstream downstream duplicates(1) ^(GGTGCGCGCGCCCGCGCCGATGTGTGTGAGTGCGTGTCCTGCTCGCTCCATGTTGCCGCCTCTCCCGGTACCTGCTGCTGCTCCCGGGGCTGCGGGAAATGCGAGAGGCTGAGCCGGGGAGGAGGAACCCGAGCAGCAGCGGCGGCGGCGGCGGCCGCGGCGGCGGGAGCCCCCCAGGAGGAGGACCGGGATCCATGTGTCTTTCCTGGTGACTAGGATGTCGTCGGAGGAGGACAAGAGCGTGGAGCAGCCGCAGCCGCCGCCACCACCCCCCGAGGAGCCTGGAGCCCCGGCCCCGAGCCCCGCAGCCGCAGACAAAAGACCTCGGGGCCGGCCTCGCAAAGATGGCGCTTCCCCTTTCCAGAGAGCCAGAAAGAA___ACCTCGAAGTAGGGGGAAAACTGCAGTGGAAGATGAGGACAGCATGGATGGGCTGGAGACAACAGAAACAGAAACGATTGTGGAAACAG___AAATCAAAGAACAATCTGCAGAAGAGGATGCTGAAGCAGAAGTGGATAACAGCAAACAGCTAATTCCAACTCTTCAGCGATCTGTGTCTGAGGAATCGGCAAACTCCCTGGTCTCTGTTGGTGTAGAAGCCAAAATCAG___TGAACAGCTCTGCGCTTTTTGTTACTGTGGGGAAAAAAGTTCCTTAGGACAAGGAGACTTAAAACAATTCAGAATAACGCCTGGATTTATCTTGCCATGGAGAAACCAACCTTCTAACAAGAAGGACATTGATGACAACAGCAATGGAACCTATGAGAAAATGCAAAACTCAGCACCACGAAAACAAAGAGGACAGAGAAA___AGAACGATCTCCTCAGCAGAATATAGTATCTTGTGTAAGTGTAAGCACCCAGACAGCTTCAGATGATCAAGCTGGTAAACTGTGGGATGAACTCAGTCTGGTTGGGCTTCCAGATGCCATTGATATCCAAGCCTTATTTGATTCTACAG___GCACTTGTTGGGCTCATCACCGTTGTGTGGAGTGGTCACTAGGAGTATGCCAGATGGAAGAACCATTGTTAGTGAACGTGGACAAAGCTGTTGTCTCAGGGAGCACAGAA___CGATGTGCATTTTGTAAGCACCTTGGAGCCACTATCAAATGCTGTGAAGAGAAATGTACCCAGATGTATCATTATCCTTGTGCTGCAGGAGCCGGCACCTTTCAGGATTTCAGTCACATCTTCCTGCTTTGTCCAGAACACATTGACCAAGCTCCTGAAAGAT___CGAAGGAAGATGCAAACTGTGCAGTGTGCGACAGCCCGGGAGACCTCTTAGATCAGTTCTTTTGTACTACTTGTGGTCAGCACTATCATGGAATGTGCCTGGATATAGCGGTTACTCCATTAAAACGTGCAGGTTGGCAATGTCCTGAGTGCAAAGTGTGCCAGAACTGCAA___ACAATCGGGAGAAGATAGCAAGATGCTAGTGTGTGATACGTGTGACAAAGGGTATCATACTTTTTGTCTTCAACCAGTTATGAAATCAGTACCAACCAATGGCTGGAAATGCAAA___AATTGCAGAATATGTATAGAGTGTGGCACACGGTCTAGTTCTCAGTGGCACCACAATTGCCTGATATGTGACAATTGTTACCAACAGCAGGATAACTTATGTCCCTTCTGTGGGAAGTGTTATCATCCAGAATTGCAGAAAGACATGCTTCATTGTAATATGTGCAAAAG___GTGGGTTCACCTAGAGTGTGACAAACCAACAGATCATGAACTGGATACTCAGCTCAAAGAAGAGTATATCTGCATGTATTGTAAACACCTGGGAGCTGAGATGGATCGTTTACAGCCAGGTGAGGAAGTGGAGATAGCTGAGCTCACTACAG___ATTATAACAATGAAATGGAAGTTGAAGGCCCTGAAGATCAAATGGTATTCTCAGAGCAGGCAGCTAATAAAGATGTCAACGGTCAGGAGTCCACTCCTGGAATTGTTCCAGATG___CGGTTCAAGTCCACACTGAAGAGCAACAGAAGAGTCATCCCTCAGAAAGTCTTGACACAGATAGTCTTCTTATTGCTG___TATCATCCCAACATACAGTGAATACTGAATTGGAAAAACAGATTTCTAATGAAGTTGATAGTGAAGACCTGAAAATGTCTTCTGAAGTGAAGCATATTTGTGGCGAAGATCAAATTGAAGATAAAATGGAAGTGACAGAAAACATTGAAGTCGTTACACACCAGATCACTGTGCAGCAAGAACAACTGCAGTTGTTAGAGGAACCTGAAACAGTGGTATCCAGAGAAGAATCAAGGCCTCCAAAATTAGTCATGGAATCTGTCACTCTTCCACTAGAAACCTTAGTGTCCCCACATGAGGAAAGTATTTCATTATGTCCTGAGGAACAGTTGGTTATAGAAAGGCTACAAGGAGAAAAGGAACAGAAAGAAAATTCTGAACTTTCTACTGGATTGATGGACTCTGAAATGACTCCTACAATTGAGGGTTGTGTGAAAGATGTTTCATACCAAGGAGGCAAATCTATAAAGTTATCATCTGAGACAGAGTCATCATTTTCATCATCAGCAGACATAAGCAAGGCAGATGTGTCTTCCTCCCCAACACCTTCTTCAGACTTGCCTTCGCATGACATGCTGCATAATTACCCTTCAGCTCTTAGTTCCTCTGCTGGAAACATCATGCCAACAACTTACATCTCAGTCACTCCAAAAATTGGCATGGGTAAACCAGCTATTACTAAGAGAAAATTTTCTCCTGGTAGACCTCGGTCCAAACAG___GGGGCTTGGAGTACCCATAATACAGTGAGCCCACCTTCCTGGTCCCCAGACATTTCAGAAGGTCGGGAAATTTTTAAACCCAGGCAGCTTCCTGGCAGTGCCATTTGGAGCATCAAAGTG___GGCCGTGGGTCTGGATTTCCAGGAAAGCGGAGACCTCGAGGTGCAGGACTGTCGGGGCGAGGTGGCCGAGGCAGGTCAAAGCTGAAAAGTGGAATCGGAGCTGTTGTATTACCTGGG___GTGTCTACTGCAGATATTTCATCAAATAAGGATGATGAAGAAAACTCTATGCACAATACAGTTGTGTTGTTTTCTAGCAGTGACAAGTTCACTTTGAATCAG___GATATGTGTGTAGTTTGTGGCAGTTTTGGCCAAGGAGCAGAAGGAAGATTACTTGCCTGTTCTCAGTGTGGTCAGTGTTACCATCCATACTGTGTCAGTATTAAG___ATCACTAAAGTGGTTCTTAGCAAAGGTTGGAGGTGTCTTGAGTGCACTGTGTGTGAGGCCTGTGGGAAGGCAACTGACCCAGGAAGACTCCTGCTGTGTGATGACTGTGACATAAGTTATCACACCTACTGCCTAGACCCTCCATTGCAGACAGTTCCCAAAGGAGGCTGGAAGTGCAAATG___GTGTGTTTGGTGCAGACACTGTGGAGCAACATCTGCAGGTCTAAGATGTGAATGGCAGAACAATTACACACAGTGCGCTCCTTGTGCAAGCTTATCTTCCTGTCCAGTCTGCTATCGAAACTATAGAGAAGAAGATCTTATTCTGCAATGTAGACAATGTGATAG___ATGGATGCATGCAGTTTGTCAGAACTTAAATACTGAGGAAGAAGTGGAAAATGTAGCAGACATTGGTTTTGATTGTAGCATGTGCAGACCCTATATGCCTGCGTCTAATG___TGCCTTCCTCAGACTGCTGTGAATCTTCACTTGTAGCACAAATTGTCACAAAAGTAAAAGAGCTAG___ACCCACCCAAGACTTATACCCAGGATGGTGTGTGTTTGACTGAATCAGGGATGACTCAGTTACAGAGCCTCACAGTTACAGTTCCAAGAAGAAAACGGTCAAAACCAAAATTGAAATTGAAGATTATAAATCAGAATAGCGTGGCCGTCCTTCAGACCCCTCCAGACATCCAATCAGAGCATTCAAGGGATGGTGAAATGGATGATAGTCGAG___AAGGAGAACTTATGGATTGTGATGGAAAATCAGAATCTAGTCCTGAGCGGGAAGCTGTGGATGATGAAACTAAGGGAGTGGAAGGAACAGATGGTGTCAAAAAGAGAAAAAGGAAACCATACAGACCAG___GTATTGGTGGATTTATGGTGCGGCAAAGAAGTCGAACTGGGCAAGGGAAAACCAAAAGATCTGTGATCAGAAAAGATTCCTCAGGCTCTATTTCCGAGCAGTTACCTTGCAGAGATGATG___GCTGGAGTGAGCAGTTACCAGATACTTTAGTTGATGAATCTGTTTCTGTTACTGAAAGCACTGAAAAAATAAAGAAGAGATACCGAAAAAGGAAAAATAAGCTTGAAGAAACTTTCCCTGCCTATTTACAA___GAAGCTTTCTTTGGAAAAGATCTTCTAGATACAAGTAGACAAAGCAAGATAAGTTTAGATAATCTGTCAGAAGATGGAGCTCAGCTTTTATATAAAACAAACATGAACACAGGTTTCTTGGATCCTTCCTTAGATCCACTACTTAGTTCATCCTCGGCTCCAACAAAATCTGGAACTCACG___GTCCTGCTGATGACCCATTAGCTGATATTTCTGAAGTTTTAAACACAGATGATGACATTCTTGGAATAATTTCAGATGATCTAGCAAAATCAGTTGATCATTCAG___ATATTGGTCCTGTCACTGATGATCCTTCCTCTTTGCCTCAGCCAAATGTCAATCAGAGTTCACGACCATTAAGTGAAGAACAGCTAGATGGGATCCTCAGTCCTGAACTAGACAAAATGGTCACAGATG___GAGCAATTCTTGGAAAATTATATAAAATTCCAG___AGCTTGGCGGAAAAGATGTTGAAGACTTATTTACAGCTGTACTTAGTCCTGCGAACACTCAGCCAACTCCATTGCCACAGCCTCCCCCACCAACACAGCTGTTGCCAATACACAATCAGG___ATGCTTTTTCACGGATGCCTCTCATGAATGGCCTTATTGGATCCAGTCCTCATCTCCCACATAATTCTTTGCCACCTGGAAGCGGACTGGGAACTTTCTCTGCAATTGCACAATCCTCTTATCCTGATGCCAG___GGATAAAAATTCAGCCTTTAATCCAATGGCAAGTGATCCTAACAACTCTTGGACATCATCAGCTCCCACTGTGGAAGGAGAAAATGACACAATGTCGAATGCCCAGAGAAGCACGCTTAAGTGGGAGAAAGAGGAGGCTCTGGGTGAAATGGCAACTGTTGCCCCAGTTCTCTACACCAATATTAATTTCCCCAACTTAAAGGAAGAATTCCCTG___ATTGGACTACTAGAGTGAAGCAAATTGCCAAATTGTGGAGAAAAGCAAGCTCACAAGAAAGAGCACCATATGTG___CAAAAAGCCAGAGATAACAGAGCTGCTTTACGCATTAATAAAGTACAGATGTCAAATGATTCCATGAAAAGGCAGCAACAGCAAGATAGCATTGATCCCAGCTCTCGTATTGATTCGGAGCTTTTTAAAGATCCTTTAAAGCAAAGAGAATCAGAACATGAACAGGAATGGAAATTTAGACAG___CAAATGCGTCAGAAAAGTAAGCAGCAAGCTAAAATTGAAGCCACACAGAAACTTGAACAGGTGAAAAATGAGCAGCAGCAGCAGCAACAACAGCAATTTGGTTCTCAGCATCTTCTGGTGCAGTCTGGTTCAGATACACCAAGTAGTGGGATACAGAGTCCCTTGACACCTCAGCCTGGCAATGGAAATATGTCTCCTGCACAGTCATTCCATAAAGAACTGTTTACAAAACAGCCACCCAGTACCCCTACGTCTACATCTTCAGATGATGTGTTTGTAAAGCCACAAGCTCCACCTCCTCCTCCAGCCCCATCCCGGATTCCCATCCAGGATAGTCTTTCTCAGGCTCAGACTTCTCAGCCACCCTCACCGCAAGTGTTTTCACCTGGGTCCTCTAACTCACGACCACCATCTCCAATGGATCCATATGCAAAAATGGTTGGTACCCCTCGACCACCTCCTGTGGGCCATAGTTTTTCCAGAAGAAATTCTGCTGCACCAGTGGAAAACTGTACACCTTTATCATCGGTATCTAGGCCCCTTCAAATGAATGAGACAACAGCAAATAGGCCATCCCCTGTCAGAGATTTATGTTCTTCTTCCACGACAAATAATGACCCCTATGCAAAACCTCCAGACACACCTAGGCCTGTGATGACAGATCAATTTCCCAAATCCTTGGGCCTATCCCGGTCTCCTGTAGTTTCAGAACAAACTGCAAAAGGCCCTATAGCAGCTGGAACCAGTGATCACTTTACTAAACCATCTCCTAGGGCAGATGTGTTTCAAAGACAAAGGATACCTGACTCATATGCACGACCCTTGTTGACACCTGCACCTCTTGATAGTGGTCCTGGACCTTTTAAGACTCCAATGCAACCTCCTCCATCCTCTCAGGATCCTTATGGATCAGTGTCACAGGCATCAAGGCGATTGTCTGTTGACCCTTATGAAAGGCCTGCTTTGACACCAAGACCTATAGATAATTTTTCTCATAATCAGTCAAATGATCCATATAGTCAGCCTCCCCTTACCCCACATCCAGCAGTGAATGAATCTTTTGCCCATCCTTCAAGGGCTTTTTCCCAGCCTGGAACCATATCAAGGCCAACATCTCAGGACCCATACTCCCAACCCCCAGGAACTCCACGACCTGTTGTAGATTCTTATTCCCAATCTTCAGGAACAGCTAGGTCCAATACAGACCCTTACTCTCAACCTCCTGGAACTCCCCGGCCTACTACTGTTGACCCATATAGTCAGCAGCCCCAAACCCCAAGACCATCTACACAAACTGACTTGTTTGTTACACCTGTAACAAATCAGAGGCATTCTGATCCATATGCTCATCCTCCTGGAACACCAAGACCTGGAATTTCTGTCCCTTACTCTCAGCCACCAGCAACACCAAGGCCAAGGATTTCAGAGGGTTTTACTAGGTCCTCAATGACAAGACCAGTCCTCATGCCAAATCAGGATCCTTTCCTGCAAGCAGCACAAAACCGAGGACCAGCTTTACCTGGCCCGTTGGTAAGGCCACCTGATACATGTTCCCAGACACCTAGGCCCCCTGGACCTGGTCTTTCAGACACATTTAGCCGTGTTTCCCCATCTGCTGCCCGTGATCCCTATGATCAGTCTCCAATGACTCCAAGATCTCAGTCTGACTCTTTTGGAACAAGTCAAACTGCCCATGATGTTGCTGATCAGCCAAGGCCTGGATCAGAGGGGAGCTTCTGTGCATCTTCAAACTCTCCAATGCACTCCCAAGGCCAGCAGTTCTCTGGTGTCTCCCAACTTCCTGGACCTGTGCCAACTTCAGGAGTAACTGATACACAGAATACTGTAAATATGGCCCAAGCAGATACAGAGAAATTGAGACAG___CGGCAGAAGTTACGTGAAATCATTCTCCAGCAGCAACAGCAGAAGAAGATTGCAGGTCGACAGGAGAAGGGGTCACAGGACTCACCCGCAGTGCCTCATCCAGGGCCTCTTCAACACTGGCAACCAGAGAATGTTAACCAGGCTTTCACCAGACCCCCACCTCCCTATCCTGGGAACATTAGGTCTCCTGTTGCCCCTCCTTTAGGACCTAGATATGCTGTTTTCCCAAAAGATCAGCGTGGACCCTATCCTCCTGATGTTGCTAGTATGGGGATGAGACCTCATGGATTTAG___ATTTGGATTTCCAGGAGGTAGTCATGGTACCATGCCGAGTCAAGAGCGCTTCCTTGTGCCTCCTCAGCAAATACAGGGATCTGGAGTTTCTCCACAGCTAAGAAGATCAGTATCTGTAGATATGCCTAGGCCTTTAAATAACTCACAAATGAATAATCCAGTTGGACTTCCTCAGCATTTTTCACCACAGAGCTTGCCAGTTCAGCAGCACAACATACTGGGCCAAGCATATATTGAACTGAGACATAGGGCTCCTGACGGAAGGCAACGGCTGCCTTTCAGTGCTCCACCTGGCAGCGTTGTAGAGGCATCTTCTAATCTGAGACATGGAAACTTCATTCCCCGGCCAGACTTTCCGGGCCCTAGACACACAGACCCCATGCGACGACCTCCCCAGGGTCTACCTAATCAGCTACCTGTGCACCCAGATTTGGAACAAGTGCCACCATCTCAACAAGAGCAAGGTCATTCTGTCCATTCATCTTCTATGGTCATGAGGACTCTGAACCATCCACTAGGTGGTGAATTTTCAGAAGCTCCTTTGTCAACATCTGTACCGTCTGAAACAACGTCTGATAATTTACAGATAACCACCCAGCCTTCTGATGGTCTAGAGGAAAAACTTGATTCTGATGACCCTTCTGTGAAGGAACTGGATGTTAAAGACCTTGAGGGGGTTGAAGTCAAAGACTTAGATGATGAAGATCTTGAAAACTTAAATTTAGATACAGAGGATGGCAAGGTAGTTGAATTGGATACTTTAGATAATTTGGAAACTAATGATCCCAACCTGGATGACCTCTTAAGGTCAGGAGAGTTTGATATCATTGCATATACAGATCCAGAACTTGACATGGGAGATAAGAAAAGCATGTTTAATGAGGAACTAGACCTTCCAATTGATGATAAGTTAGATAATCAGTGTGTATCTGTTGAACCAAAAAAAAAGGAACAAGAAAACAAAACTCTGGTTCTCTCTGATAAACATTCACCACAGAAAAAATCCACTGTTACCAATGAGGTAAAAACGGAAGTACTGTCTCCAAATTCTAAGGTGGAATCCAAATGTGAAACTGAAAAAAATGATGAGAATAAAGATAATGTTGACACTCCTTGCTCACAGGCTTCTGCTCACTCAGACCTAAATGATGGAGAAAAGACTTCTTTGCATCCTTGTGATCCAGATCTATTTGAGAAAAGAACCAATCGAGAAACTGCTGGCCCCAGTGCAAATGTCATTCAGGCATCCACTCAACTACCTGCTCAAGATGTAATAAACTCTTGTGGCATAACTGGATCAACTCCAGTTCTCTCAAGTTTACTTGCTAATGAGAAATCTGATAATTCAGACATTAGGCCATCGGGGTCTCCACCACCACCAACTCTGCCGGCCTCCCCATCCAATCATGTGTCAAGTTTGCCTCCTTTCATAGCACCGCCTGGCCGTGTTTTGGATAATGCCATGAATTCTAATGTGACAGTAGTCTCTAGGGTAAACCATGTTTTTTCTCAGGGTGTGCAGGTAAACCCAGGGCTCATTCCAGGTCAATCAACAGTTAACCACAGTCTGGGGACAGGAAAACCTGCAACTCAAACTGGGCCTCAAACAAGTCAGTCTGGTACCAGTAGCATGTCTGGACCCCAACAGCTAATGATTCCTCAAACATTAGCACAGCAGAATAGAGAGAGGCCCCTTCTTCTAGAAGAACAGCCTCTACTTCTACAGGATCTTTTGGATCAAGAAAGGCAAGAACAGCAGCAGCAAAGACAGATGCAAGCCATGATTCGTCAGCGATCAGAACCGTTCTTCCCTAATATTG___ATTTTGATGCAATTACAGATCCTATAATGAAAGCCAAAATGGTGGCCCTTAAAGGTATAAATAAAGTGATGGCACAAAACAATCTGGGCATGCCACCAATGGTGATGAGCAG___GTTCCCTTTTATGGGCCAGGTGGTAACTGGAACACAGAACAGTGAAGGACAGAACCTTGGACCACAGGCCATTCCTCAG___GATGGCAGTATAACACATCAGATTTCTAGGCCTAATCCTCCAAATTTTGGTCCAGGCTTTGTCA___ATGATTCACAGCGTAAGCAGTATGAAGAGTGGCTCCAGGAGACCCAACAGCTGCTTCAAATGCAGCAGAAGTATCTTGAAGAACAAATTGGTGCTCACAGAAAATCTAAGAAGGCCCTTTCAGCTAAACAACGTACTGCCAAGAAAGCTGGGCGTGAATTTCCAGAGGAAGATGCAGAACAACTCAAGCATGTTACTGAACAGCAAAGCATGGTTCAGAAACAGCTAGAACAG___ATTCGTAAACAACAGAAAGAACATGCTGAATTGATTGAAGATTATCGGATCAAACAGCAGCAGCAATGTGCAATGGCCCCACCTACCATGATGCCCAGTGTCCAGCCCCAGCCACCCCTAATTCCAGGTGCCACTCCACCCACCATGAGCCAACCCACCTTTCCCATGGTGCCACAGCAGCTTCAGCACCAGCAGCACACAACAGTTATTTCTGGCCATACTAGCCCTGTTAGAATGCCCAGTTTACCTGGATGGCAACCCAACAGTGCTCCTGCCCACCTGCCCCTCAATCCTCCTAGAATTCAGCCCCCAATTGCCCAGTTACCAATAAAAACTTGTACACCAGCCCCAGGGACAGTCTCAAATGCAAATCCACAGAGTGGACCACCACCTCGGGTAGAATTTGATGACAACAATCCCTTTAGTGAAAGTTTTCAAGAACGGGAACGTAAGGAACGTTTACGAGAACAGCAAGAGAGACAACGGATCCAACTCATGCAGGAGGTAGATAGACAAAGAGCTTTGCAGCAGAGGATGGAAATGGAGCAGCATGGTATGGTGGGCTCTGAGATAAGTAGTAGTAGGACATCTGTGTCCCAGATTCCCTTCTACAGTTCCGACTTACCTTGTGATTTTATGCAACCTCTAGGACCCCTTCAGCAGTCTCCACAACACCAACAGCAAATGGGGCAGGTTTTACAGCAGCAGAATATACAACAAGGATCAATTAATTCACCCTCCACCCAAACTTTCATGCAGACTAATGAGCGAAGGCAGGTAGGCCCTCCTTCATTTGTTCCTGATTCACCATCAATCCCTGTTGGAAGCCCAAATTTTTCTTCTGTGAAGCAGGGACATGGAAATCTTTCTGGGACCAGCTTCCAGCAGTCCCCAGTGAGGCCTTCTTTTACACCTGCTTTACCAGCAGCACCTCCAGTAGCTAATAGCAGTCTCCCATGTGGCCAAGATTCTACTATAACCCATGGACACAGTTATCCGGGATCAACCCAATCGCTCATTCAGTTGTATTCTGATATAATCCCAGAGGAAAAAGGGAAAAAGAAAAGAACAAGAAAGAAGAAAAGAGATGATGATGCAGAATCCACCAAGGCTCCATCAACTCCCCATTCAGATATAACTGCCCCACCGACTCCAGGCATCTCAGAAACTACCTCTACTCCTGCAGTGAGCACACCCAGTGAGCTTCCTCAACAAGCCGACCAAGAGTCGGTGGAACCAGTCGGCCCATCCACTCCCAATATGGCAGCAGGCCAGCTATGTACAGAATTAGAGAACAAACTGCCCAATAGTGATTTCTCACAAGCAACTCCAAATCAACAGACGTATGCAAATTCAGAAGTAGACAAGCTCTCCATGGAAACCCCTGCCAAAACAGAAGAGATAAAACTGGAAAAGGCTGAGACAGAGTCCTGCCCAGGCCAAGAGGAGCCTAAATTGGAGGAACAGAATGGTAGTAAGGTAGAAGGAAACGCTGTAGCCTGTCCTGTCTCCTCAGCACAGAGTCCTCCCCATTCTGCTGGGGCCCCTGCTGCCAAAGGAGACTCAGGGAATGAACTTCTGAAACACTTGTTGAAAAATAAAAAGTCATCTTCTCTTTTGAATCAAAAACCTGAGGGCAGTATTTGTTCAGAAGATGACTGTACAAAGGATAATAAACTAGTTGAGAAGCAGAACCCAGCTGAAGGACTG___CAAACTTTGGGGGCTCAAATGCAAGGTGGTTTTGGATGTGGCAACCAGTTGCCAAAAACAGATGGAGGAAGTGAAACCAAGAAACAGCGAAGCAAACGGACTCAGAGGACGGGTGAGAAAGCAGCACCTCGCTCAAAGAAAAGGAAAAAGGACGAAGAGGAGAAACAAGCTATGTACTCTAGCACTGACACGTTTACCCACTTGAAACAG___CAGAATAATTTAAGTAATCCTCCAACACCCCCTGCCTCTCTTCCTCCTACACCACCTCCTATGGCTTGTCAGAAGATGGCCAATGGTTTTGCAACAACTGAAGAACTTGCTGGAAAAGCCGGAGTGTTAGTGAGCCATGAAG___TTACCAAAACTCTAGGACCTAAACCATTTCAGCTGCCCTTCAGACCCCAGGACGACTTGTTGGCCCGAGCTCTTGCTCAGGGCCCCAAGACAGTTGATGTGCCAGCCTCCCTCCCAACACCACCTCATAACAATCAGGAAGAATTAAG___GATACAGGATCACTGTGGTGATCGAGATACTCCTGACAGTTTTGTTCCCTCATCCTCTCCTGAGAGTGTGGTTGGGGTAGAAGTGAGCAGGTATCCAGATCTGTCATTGGTCAAGGAGGAGCCTCCAGAACCGGTGCCGTCCCCCATCATTCCAATTCTTCCTAGCACTGCTGGGAAAA___GTTCAGAATCAAGAAGGAATGACATCAAAACTGAGCCAGGCACTTTATATTTTGCGTCACCTTTTGGTCCTTCCCCAAATGGTCCCAGATCAGGTCTTATATCTGTAGCAATTACTCTGCATCCTACAGCTGCTGAG___AACATTAGCAGTGTTGTGGCTGCATTTTCCGACCTTCTTCACGTCCGAATCCCTAACAGCTATGAGGTTAGCAGTGCTCCAGATGTCCCATCCATGGGTTTGGTCAGTAGCCACAGAATCAACCCGGGTTTGGAGTATCGACAGCATTTACTTCTCCGTGGGCCTCCGCCAGGATCTGCAAACCCTCCCAGATTAGTGAGCTCTTACCGGCTGAAGCAGCCTAATGTACCATTTCCTCCAACAAGCAATG___GTCTTTCTGGATATAAGGATTCTAGTCATGGTATTGCAGAAAGCGCAGCACTCAGACCACAGTGG)TGTTGTCATTGTAAAGTGGTTATTCTTGGAAGTGGTGTGCGGAAATCTTTCAAAGATCTGACCCTTTTGAACAAG___GATTCCCGAGAAAGCACCAAGAGGGTAGAGAAGGACATTGTCTTCTGTAGTAATAACTGCTTTATTCTTTATTCATCAACTGCACAAGCGAAAAACTCAGAAAACAAG|TCCCAGCTCAGTGTCACAGACCTTTGTGGAAGCAACAACAGCTCCCATCCTTCCAACCTTTCTGGAGAAGCCGTGGCCTGATGGTGAGCCGAATGGGC(TGGGGGGGGAGAAGAAGGCGGCTGGGGCGGTGGGGAGATCTGGGGCCCGGATCGGTGCCCCTCCTCCCCATGCCACTGCCACCTCCTCCTCCTCCTTCATGCCGGGGACCTGGGGGAGGGAGGATCTCCATCTTCTCTCTGTCCCCTGCCCCTCATACAAGAAGCTCCCCCTCCTCATTTTCCCCTCCCACCGCAGGGCCCCCTTGCTCAGTGCTACAGGGGACAGGGGCTTCTCAGTCTTGCCACAGTGCTCTCCCTATCCCAGCCACCCCCCCAACACAGGCTCAACCTGCAATGACACCTGCCTCTGCATCTCCCTCCTGGGGATCCCACTCCACCCCACCCCTGGCCCCGGCAACCCCCACTCCCTCACAGCAGTGCCCCCAGGACTCTCCTGGGCTGCGGGTAGGCCCTTTGATCCCTGAACAGGATTATGAGCGGCTGGAGGACTGTGACCCTGAGGGGTCCCAAGACTCACCCATCCACGGGGAGGAGCAGCAACCCCTGCTTCATGTCCCTGAAGGGCTCCGAG___GCTCCTGGCATCACATCCAGAACCTGGACAGTTTCTTCACCAAG___ATCTACAGCTACCACCAGCGGAATGGCTTTGCCTGCATCTTGCTGGAGGATGTCTTCCAGCTGGG___ACAATTTATTTTCATTGTCACCTTCACAACCTTCCTCCTTCGATGCGTGGATTACAATGTTCTCTTTGCCAACCAACCAAGTAACCATACCAGACCTGGGCCGTTCCACAGCAAAGTGACCCTGTCAGATGCCATCCTACCCTCAGCCCAGTGTGCTGAGAG___GATCCGCTCCAGCCCGCTGCTGGTCCTCCTCCTGGTCCTGGCTGCCGGCTTCTGGCTGGTCCAACTGCTTCGCTCAGTCTGCAACCTCTTCAGCTACTGGGACATCCAGGTGTTTTACAGGGAGGCCCTGCACATCCCCCCG___GAGGAGCTGAGCTCGGTTCCCTGGGCAGAGGTGCAGTCCCGCCTCTTGGCACTGCAGCGGAGCGGGGGCCTGTGCGTGCAGCCGCGGCCCCTGACGGAGCTGGACATCCACCACCGCATCCTGCGCTACACCAACTACCAGGTGGCGCTGGCCAACAAAGGCCTGCTGCCGGCCCGCTGCCCGCTGCCCTGGGGAGGCAGTGCGGCTTTCCTCAGCCGCGGCCTGGCGCTCAATGTCGACCTGCTGCTCTTCCGCGGTCCCTTCTCGCTCTTCCGCGGGGGCTGGGAGCTGCCGCACGCCTACAAGCGCAGCGACCAGCGGGGCGCCCTAGCAGCGCGCTGGGGGCGCACAGTGCTGCTGCTGGCCGCCCTGAACCTGGCGCTGAGCCCGCTGGTGCTGGCCTGGCAGGTTCTGCACGTCTTCTATAGCCACGTGGAGCTGCTGCGGCGCGAGCCTGGCGCGCTGGGGGCGCGCGGCTGGTCCCGCCTGGCGCGCTTGCAGCTGCGCCACTTCAACGAGCTGCCGCACGAGCTGCGCGCGCGCCTGGCCCGCGCCTACCGCCCCGCCGCCGCCTTCCTGCGCACCGCTGCGCCCCCCGCGCCCCTGCGCACGCTGCTGGCCCGCCAGCTCGTTTTCTTCGCGGGTGCACTCTTCGCCGCGCTGCTTGTGCTCACCGTCTACGACGAGGACGTGCTAGCCGTGGAGCACGTGCTCACCGCCATGACCGCGCTCGGGGTCACCGCCACCGTCGCCAG___GTCTTTCATTCCGGAAGAGCAGTGCCAGGGTCGTGCGCCGCAGCTCCTGCTGCAGACAGCCCTGGCCCACATGCACTACCTCCCGGAGGAGCCCGGCCCCGGCGGCAGGGACCGCGCCTACCGGCAGATGGCGCAGCTGCTGCAGTACCGAGCG___GTCTCCCTCCTGGAGGAGCTCCTGTCCCCGCTCCTCACCCCGCTGTTTCTGCTTTTCTGGTTCCGCCCTCGTGCCCTGGAGATTATCGACTTTTTTCATCACTTCACTGTGGATGTGGCTGGGGTTGGGGACATCTGTTCCTTTGCCCTTATGGATGTGAAGCGCCACGGACACCCTCAG___TGGCTCTCGGCGGGACAGACTGAGGCCTCGCTGTCTCAGCGTGCGGAGGACGGCAAGACTGAGCTTTCTTTGATGCGGTTCTCCCTGGCGCATCCACTCTGGCGCCCCCCAGGGCACAGCTCTAAGTTTCTTGGGCACCTCTGGGGCCGAGTACAACAAGATGCAGCTGCCTGGGGTGCCACCTCGGCTCGCGGCCCCTCCACCCCGGGGGTGCTCAGCAACTGCACCTCGCCCCTG___CCTGAGGCCTTCCTGGCCAACCTCTTCGTGCACCCTCTCCTGCCTCCGAGAGATCTGAGCCCGACAGCCCCCTGTCCAGCTGCGGCCACAGCCAGCCTCCTTGCCTCCATTTCCCGAATTGCCCAGGACCCCAG___CTCTGTGTCCCCAGGAGGCACTGGGGGCCAGAAGCTGGCCCAGCTCCCAGAACTTGCTTCTGCCGAGATGAGTCTCCATGTCATCTACCTGCACCAG___CTTCACCAGCAGCAGCAGCAGCAGGAGCCGTGGGGTGAGGCTGCAGCCTCCATCCTGTCCAGGCCCTGCTCCAGCCCCTCACAGCCACCCTCGCCTGATGAGGAGAAGCCATCCTGGTCAAGTGACG___GCTCCAGTCCTGCCTCTAGCCCCAGACAACAGTGGGGAACCCAGAAGGCCCGGAATCTGTTCCCCGGAGGGTTTCAGGTGACCACAGACACCCAGAAGGAGCCTGACCGGGCCTCTTGCACTGACTGAGACGACTCCTCAGG___GCCCCACTCCTGGCAGCTGAGTGCTGCACCTGCCTTCTCGATCACGAGCCTGAGAACTGCACGGGGGAGCAGCCCAGACTGGCTGGAAACCATGTTTTCAGAGTGCAGGGTCAAGTGGCGT___CCTCTGGACAGATGTGAGAAGGCACCACCTCAAGAGGGGAGGAGCGGGGCTGATCCTGGTCGGGCGGACCTGAGTCGGGCAGCCGCTCTCCCGGAACTGGAAGGGAAAGCCAGGCGGCTCTCAGGGGCTGTTGGTGTCTGAGCCGGGAGGGTCGAACGCCCAGGGCACTGCGCCCCGCAACTGACGCTCCTGCAAGGAAAAGCTCTGG___CACGCCGATGACGTCGCCGGCCTCGTCCAGCTCCATGTCGCCCTCCGTCGCCAGGATGCGCTGCACGGTCTGCAGGACGTTGGTTGCCATGGTAACATCGCCGCAGACAAACATGTGGCCCCGCTCGAGGCACAGCACGCGGTGCACCTCCGCAGCCAGCTCCGTCCTCAGGATGTCCTGCAC___GTTACCATTGCGCCCTCAGGGTCTCACACCTTGGGGTTGTCAGGTTCCCGGGAGAAGGCGGTGAGGACTCGGCCAAACACCCCGCGCTGCTGGGCGTTCTGCACCTCGTCGCGGTAGAGATGGTCAAGTTGGGAGCATCGGCAGCCGAACACCAAAGTCATGGGAGTGGGCTGCAGCCCTGCAAGCAACCCCGCGCTTGGGAAGGCTCTTCTCCGGGGCACAGTGCTAGTGGGGCCTCCCCACAGGCCACCGTCGCCCAGCCTGGCAGCCCAGCGTTTTGGGCTGAAACCACCATTACTTTGGCTGTTTCATCTCTAAGAGAGTGTAGAATGCTTTCACAGAGACCCTGCACAGCCCTGATTTACAGAGGGAAGGGAAGCGCGGGTGAGGTGGTGGCCCCTGGTGGAGCTGCGCTAGAATGCGCGGCTTCGGACTCAGAATTCCATGCCCTTTGCATTGTGTGACATCGCAGTCCCCTTCCCCGCTCCCACTTCATATTCTCCCATACTTATAACTCTCCTCCCAGTCACAGCCCTCTTCTTTTGATTGACAGACCACCCTGGGCACCCCATGCTCAATATGAACACCTTGTAGCATCCTTAGGTCTTGGACAGACCTCGGTCAGCTCTGGCACAGTCAAGAATCCACCTTGGGCAGTTCTTCTTTGAGTCTTAGCCCTAATCCCTTTGAAAATTCTATTTTCCTTTGTCCTCAATCCAGTCAACACCTACTATGTACCAGGCACCAGGAAGCCAGAAGCTCAGGGCCCAGCCCTTGCCTTTGGTACCTGCCCTCCCCTTGGTCTCATGAGCGTCTTTTCAGCTTTGTGGACTTTGTTTCCTGCCCTCTCTTTCCTATTTCCTGCCTTCCAGCCCCACCCCTCTGTCCCTAGATTGTGTGACTCCCTTCAGGCAGTCCTTTAGTCCCCAGCCTCACCTTTGCTCTCAATGTCATGCAGCCGCTCCTGCCAGAATCCCCGGAAGGGGGCAATGCCAGTGCCTGGACCCACCAGGATGCAGGGCAAGCTGGGATCGGGTGGCAGCCGGAAGGAGGGAGCCCTGGCAGGAGAGACACTCCATCAGGTCCCCTTTGCCTTTCCTGCTCCACCATTCTCACCATGCAGGGTGGGTGGAGCAAGGAGGACCCAAGTTCTTCCCATCTC)$ MSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIKEQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDNSNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQMEEPLLVNVDKAVVSGSTERCAFCKHLGATIKCCEEKCTQMYHYPCAAGAGTFQDFSHIFLLCPEHIDQAPERSKEDANCAVCDSPGDLLDQFFCTTCGQHYHGMCLDIAVTPLKRAGWQCPECKVCQNCKQSGEDSKMLVCDTCDKGYHTFCLQPVMKSVPTNGWKCKNCRICIECGTRSSSQWHHNCLICDNCYQQQDNLCPFCGKCYHPELQKDMLHCNMCKRWVHLECDKPTDHELDTQLKEEYICMYCKHLGAEMDRLQPGEEVEIAELTTDYNNEMEVEGPEDQMVFSEQAANKDVNGQESTPGIVPDAVQVHTEEQQKSHPSESLDTDSLLIAVSSQHTVNTELEKQISNEVDSEDLKMSSEVKHICGEDQIEDKMEVTENIEVVTHQITVQQEQLQLLEEPETVVSREESRPPKLVMESVTLPLETLVSPHEESISLCPEEQLVIERLQGEKEQKENSELSTGLMDSEMTPTIEGCVKDVSYQGGKSIKLSSETESSFSSSADISKADVSSSPTPSSDLPSHDMLHNYPSALSSSAGNIMPTTYISVTPKIGMGKPAITKRKFSPGRPRSKQGAWSTHNTVSPPSWSPDISEGREIFKPRQLPGSAIWSIKVGRGSGFPGKRRPRGAGLSGRGGRGRSKLKSGIGAVVLPGVSTADISSNKDDEENSMHNTVVLFSSSDKFTLNQDMCVVCGSFGQGAEGRLLACSQCGQCYHPYCVSIKITKVVLSKGWRCLECTVCEACGKATDPGRLLLCDDCDISYHTYCLDPPLQTVPKGGWKCKWCVWCRHCGATSAGLRCEWQNNYTQCAPCASLSSCPVCYRNYREEDLILQCRQCDRWMHAVCQNLNTEEEVENVADIGFDCSMCRPYMPASNVPSSDCCESSLVAQIVTKVKELDPPKTYTQDGVCLTESGMTQLQSLTVTVPRRKRSKPKLKLKIINQNSVAVLQTPPDIQSEHSRDGEMDDSREGELMDCDGKSESSPEREAVDDETKGVEGTDGVKKRKRKPYRPGIGGFMVRQRSRTGQGKTKRSVIRKDSSGSISEQLPCRDDGWSEQLPDTLVDESVSVTESTEKIKKRYRKRKNKLEETFPAYLQEAFFGKDLLDTSRQSKISLDNLSEDGAQLLYKTNMNTGFLDPSLDPLLSSSSAPTKSGTHGPADDPLADISEVLNTDDDILGIISDDLAKSVDHSDIGPVTDDPSSLPQPNVNQSSRPLSEEQLDGILSPELDKMVTDGAILGKLYKIPELGGKDVEDLFTAVLSPANTQPTPLPQPPPPTQLLPIHNQDAFSRMPLMNGLIGSSPHLPHNSLPPGSGLGTFSAIAQSSYPDARDKNSAFNPMASDPNNSWTSSAPTVEGENDTMSNAQRSTLKWEKEEALGEMATVAPVLYTNINFPNLKEEFPDWTTRVKQIAKLWRKASSQERAPYVQKARDNRAALRINKVQMSNDSMKRQQQQDSIDPSSRIDSELFKDPLKQRESEHEQEWKFRQQMRQKSKQQAKIEATQKLEQVKNEQQQQQQQQFGSQHLLVQSGSDTPSSGIQSPLTPQPGNGNMSPAQSFHKELFTKQPPSTPTSTSSDDVFVKPQAPPPPPAPSRIPIQDSLSQAQTSQPPSPQVFSPGSSNSRPPSPMDPYAKMVGTPRPPPVGHSFSRRNSAAPVENCTPLSSVSRPLQMNETTANRPSPVRDLCSSSTTNNDPYAKPPDTPRPVMTDQFPKSLGLSRSPVVSEQTAKGPIAAGTSDHFTKPSPRADVFQRQRIPDSYARPLLTPAPLDSGPGPFKTPMQPPPSSQDPYGSVSQASRRLSVDPYERPALTPRPIDNFSHNQSNDPYSQPPLTPHPAVNESFAHPSRAFSQPGTISRPTSQDPYSQPPGTPRPVVDSYSQSSGTARSNTDPYSQPPGTPRPTTVDPYSQQPQTPRPSTQTDLFVTPVTNQRHSDPYAHPPGTPRPGISVPYSQPPATPRPRISEGFTRSSMTRPVLMPNQDPFLQAAQNRGPALPGPLVRPPDTCSQTPRPPGPGLSDTFSRVSPSAARDPYDQSPMTPRSQSDSFGTSQTAHDVADQPRPGSEGSFCASSNSPMHSQGQQFSGVSQLPGPVPTSGVTDTQNTVNMAQADTEKLRQRQKLREIILQQQQQKKIAGRQEKGSQDSPAVPHPGPLQHWQPENVNQAFTRPPPPYPGNIRSPVAPPLGPRYAVFPKDQRGPYPPDVASMGMRPHGFRFGFPGGSHGTMPSQERFLVPPQQIQGSGVSPQLRRSVSVDMPRPLNNSQMNNPVGLPQHFSPQSLPVQQHNILGQAYIELRHRAPDGRQRLPFSAPPGSVVEASSNLRHGNFIPRPDFPGPRHTDPMRRPPQGLPNQLPVHPDLEQVPPSQQEQGHSVHSSSMVMRTLNHPLGGEFSEAPLSTSVPSETTSDNLQITTQPSDGLEEKLDSDDPSVKELDVKDLEGVEVKDLDDEDLENLNLDTEDGKVVELDTLDNLETNDPNLDDLLRSGEFDIIAYTDPELDMGDKKSMFNEELDLPIDDKLDNQCVSVEPKKKEQENKTLVLSDKHSPQKKSTVTNEVKTEVLSPNSKVESKCETEKNDENKDNVDTPCSQASAHSDLNDGEKTSLHPCDPDLFEKRTNRETAGPSANVIQASTQLPAQDVINSCGITGSTPVLSSLLANEKSDNSDIRPSGSPPPPTLPASPSNHVSSLPPFIAPPGRVLDNAMNSNVTVVSRVNHVFSQGVQVNPGLIPGQSTVNHSLGTGKPATQTGPQTSQSGTSSMSGPQQLMIPQTLAQQNRERPLLLEEQPLLLQDLLDQERQEQQQQRQMQAMIRQRSEPFFPNIDFDAITDPIMKAKMVALKGINKVMAQNNLGMPPMVMSRFPFMGQVVTGTQNSEGQNLGPQAIPQDGSITHQISRPNPPNFGPGFVNDSQRKQYEEWLQETQQLLQMQQKYLEEQIGAHRKSKKALSAKQRTAKKAGREFPEEDAEQLKHVTEQQSMVQKQLEQIRKQQKEHAELIEDYRIKQQQQCAMAPPTMMPSVQPQPPLIPGATPPTMSQPTFPMVPQQLQHQQHTTVISGHTSPVRMPSLPGWQPNSAPAHLPLNPPRIQPPIAQLPIKTCTPAPGTVSNANPQSGPPPRVEFDDNNPFSESFQERERKERLREQQERQRIQLMQEVDRQRALQQRMEMEQHGMVGSEISSSRTSVSQIPFYSSDLPCDFMQPLGPLQQSPQHQQQMGQVLQQQNIQQGSINSPSTQTFMQTNERRQVGPPSFVPDSPSIPVGSPNFSSVKQGHGNLSGTSFQQSPVRPSFTPALPAAPPVANSSLPCGQDSTITHGHSYPGSTQSLIQLYSDIIPEEKGKKKRTRKKKRDDDAESTKAPSTPHSDITAPPTPGISETTSTPAVSTPSELPQQADQESVEPVGPSTPNMAAGQLCTELENKLPNSDFSQATPNQQTYANSEVDKLSMETPAKTEEIKLEKAETESCPGQEEPKLEEQNGSKVEGNAVACPVSSAQSPPHSAGAPAAKGDSGNELLKHLLKNKKSSSLLNQKPEGSICSEDDCTKDNKLVEKQNPAEGLQTLGAQMQGGFGCGNQLPKTDGGSETKKQRSKRTQRTGEKAAPRSKKRKKDEEEKQAMYSSTDTFTHLKQQNNLSNPPTPPASLPPTPPPMACQKMANGFATTEELAGKAGVLVSHEVTKTLGPKPFQLPFRPQDDLLARALAQGPKTVDVPASLPTPPHNNQEELRIQDHCGDRDTPDSFVPSSSPESVVGVEVSRYPDLSLVKEEPPEPVPSPIIPILPSTAGKSSESRRNDIKTEPGTLYFASPFGPSPNGPRSGLISVAITLHPTAAENISSVVAAFSDLLHVRIPNSYEVSSAPDVPSMGLVSSHRINPGLEYRQHLLLRGPPPGSANPPRLVSSYRLKQPNVPFPPTSNGLSGYKDSSHGIAESAALRPQWCCHCKVVILGSGVRKSFKDLTLLNKDSRESTKRVEKDIVFCSNNCFILYSSTAQAKNSENK|sqlsvtdlcgsnnsshpsnlsgeava* 14BR005 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 2 0 1 249 20 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCA)GTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAG(GACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 14BR005 ENSG00000055609.18 ENSG00000243433.1 -/- -/- chr7:152148049 chr7:151028882 CDS exon deletion 27 20 1 104 66 medium out-of-frame . F/Y-rich_N-terminus(100%),F/Y_rich_C-terminus(78%),PHD-finger(100%),PHD-like_zinc-binding_domain(100%),PHD-zinc-finger_like_domain(100%)| . . ENSG00000055609.18 ENSG00000243433.1 ENST00000262189.11 ENST00000479085.1 upstream downstream mismatches(1) ^(GGTGCGCGCGCCCGCGCCGATGTGTGTGAGTGCGTGTCCTGCTCGCTCCATGTTGCCGCCTCTCCCGGTACCTGCTGCTGCTCCCGGGGCTGCGGGAAATGCGAGAGGCTGAGCCGGGGAGGAGGAACCCGAGCAGCAGCGGCGGCGGCGGCGGCCGCGGCGGCGGGAGCCCCCCAGGAGGAGGACCGGGATCCATGTGTCTTTCCTGGTGACTAGGATGTCGTCGGAGGAGGACAAGAGCGTGGAGCAGCCGCAGCCGCCGCCACCACCCCCCGAGGAGCCTGGAGCCCCGGCCCCGAGCCCCGCAGCCGCAGACAAAAGACCTCGGGGCCGGCCTCGCAAAGATGGCGCTTCCCCTTTCCAGAGAGCCAGAAAGAA___ACCTCGAAGTAGGGGGAAAACTGCAGTGGAAGATGAGGACAGCATGGATGGGCTGGAGACAACAGAAACAGAAACGATTGTGGAAACAG___AAATCAAAGAACAATCTGCAGAAGAGGATGCTGAAGCAGAAGTGGATAACAGCAAACAGCTAATTCCAACTCTTCAGCGATCTGTGTCTGAGGAATCGGCAAACTCCCTGGTCTCTGTTGGTGTAGAAGCCAAAATCAG___TGAACAGCTCTGCGCTTTTTGTTACTGTGGGGAAAAAAGTTCCTTAGGACAAGGAGACTTAAAACAATTCAGAATAACGCCTGGATTTATCTTGCCATGGAGAAACCAACCTTCTAACAAGAAGGACATTGATGACAACAGCAATGGAACCTATGAGAAAATGCAAAACTCAGCACCACGAAAACAAAGAGGACAGAGAAA___AGAACGATCTCCTCAGCAGAATATAGTATCTTGTGTAAGTGTAAGCACCCAGACAGCTTCAGATGATCAAGCTGGTAAACTGTGGGATGAACTCAGTCTGGTTGGGCTTCCAGATGCCATTGATATCCAAGCCTTATTTGATTCTACAG___GCACTTGTTGGGCTCATCACCGTTGTGTGGAGTGGTCACTAGGAGTATGCCAGATGGAAGAACCATTGTTAGTGAACGTGGACAAAGCTGTTGTCTCAGGGAGCACAGAA___CGATGTGCATTTTGTAAGCACCTTGGAGCCACTATCAAATGCTGTGAAGAGAAATGTACCCAGATGTATCATTATCCTTGTGCTGCAGGAGCCGGCACCTTTCAGGATTTCAGTCACATCTTCCTGCTTTGTCCAGAACACATTGACCAAGCTCCTGAAAGAT___CGAAGGAAGATGCAAACTGTGCAGTGTGCGACAGCCCGGGAGACCTCTTAGATCAGTTCTTTTGTACTACTTGTGGTCAGCACTATCATGGAATGTGCCTGGATATAGCGGTTACTCCATTAAAACGTGCAGGTTGGCAATGTCCTGAGTGCAAAGTGTGCCAGAACTGCAA___ACAATCGGGAGAAGATAGCAAGATGCTAGTGTGTGATACGTGTGACAAAGGGTATCATACTTTTTGTCTTCAACCAGTTATGAAATCAGTACCAACCAATGGCTGGAAATGCAAA___AATTGCAGAATATGTATAGAGTGTGGCACACGGTCTAGTTCTCAGTGGCACCACAATTGCCTGATATGTGACAATTGTTACCAACAGCAGGATAACTTATGTCCCTTCTGTGGGAAGTGTTATCATCCAGAATTGCAGAAAGACATGCTTCATTGTAATATGTGCAAAAG___GTGGGTTCACCTAGAGTGTGACAAACCAACAGATCATGAACTGGATACTCAGCTCAAAGAAGAGTATATCTGCATGTATTGTAAACACCTGGGAGCTGAGATGGATCGTTTACAGCCAGGTGAGGAAGTGGAGATAGCTGAGCTCACTACAG___ATTATAACAATGAAATGGAAGTTGAAGGCCCTGAAGATCAAATGGTATTCTCAGAGCAGGCAGCTAATAAAGATGTCAACGGTCAGGAGTCCACTCCTGGAATTGTTCCAGATG___CGGTTCAAGTCCACACTGAAGAGCAACAGAAGAGTCATCCCTCAGAAAGTCTTGACACAGATAGTCTTCTTATTGCTG___TATCATCCCAACATACAGTGAATACTGAATTGGAAAAACAGATTTCTAATGAAGTTGATAGTGAAGACCTGAAAATGTCTTCTGAAGTGAAGCATATTTGTGGCGAAGATCAAATTGAAGATAAAATGGAAGTGACAGAAAACATTGAAGTCGTTACACACCAGATCACTGTGCAGCAAGAACAACTGCAGTTGTTAGAGGAACCTGAAACAGTGGTATCCAGAGAAGAATCAAGGCCTCCAAAATTAGTCATGGAATCTGTCACTCTTCCACTAGAAACCTTAGTGTCCCCACATGAGGAAAGTATTTCATTATGTCCTGAGGAACAGTTGGTTATAGAAAGGCTACAAGGAGAAAAGGAACAGAAAGAAAATTCTGAACTTTCTACTGGATTGATGGACTCTGAAATGACTCCTACAATTGAGGGTTGTGTGAAAGATGTTTCATACCAAGGAGGCAAATCTATAAAGTTATCATCTGAGACAGAGTCATCATTTTCATCATCAGCAGACATAAGCAAGGCAGATGTGTCTTCCTCCCCAACACCTTCTTCAGACTTGCCTTCGCATGACATGCTGCATAATTACCCTTCAGCTCTTAGTTCCTCTGCTGGAAACATCATGCCAACAACTTACATCTCAGTCACTCCAAAAATTGGCATGGGTAAACCAGCTATTACTAAGAGAAAATTTTCTCCTGGTAGACCTCGGTCCAAACAG___GGGGCTTGGAGTACCCATAATACAGTGAGCCCACCTTCCTGGTCCCCAGACATTTCAGAAGGTCGGGAAATTTTTAAACCCAGGCAGCTTCCTGGCAGTGCCATTTGGAGCATCAAAGTG___GGCCGTGGGTCTGGATTTCCAGGAAAGCGGAGACCTCGAGGTGCAGGACTGTCGGGGCGAGGTGGCCGAGGCAGGTCAAAGCTGAAAAGTGGAATCGGAGCTGTTGTATTACCTGGG___GTGTCTACTGCAGATATTTCATCAAATAAGGATGATGAAGAAAACTCTATGCACAATACAGTTGTGTTGTTTTCTAGCAGTGACAAGTTCACTTTGAATCAG___GATATGTGTGTAGTTTGTGGCAGTTTTGGCCAAGGAGCAGAAGGAAGATTACTTGCCTGTTCTCAGTGTGGTCAGTGTTACCATCCATACTGTGTCAGTATTAAG___ATCACTAAAGTGGTTCTTAGCAAAGGTTGGAGGTGTCTTGAGTGCACTGTGTGTGAGGCCTGTGGGAAGGCAACTGACCCAGGAAGACTCCTGCTGTGTGATGACTGTGACATAAGTTATCACACCTACTGCCTAGACCCTCCATTGCAGACAGTTCCCAAAGGAGGCTGGAAGTGCAAATG___GTGTGTTTGGTGCAGACACTGTGGAGCAACATCTGCAGGTCTAAGATGTGAATGGCAGAACAATTACACACAGTGCGCTCCTTGTGCAAGCTTATCTTCCTGTCCAGTCTGCTATCGAAACTATAGAGAAGAAGATCTTATTCTGCAATGTAGACAATGTGATAG___ATGGATGCATGCAGTTTGTCAGAACTTAAATACTGAGGAAGAAGTGGAAAATGTAGCAGACATTGGTTTTGATTGTAGCATGTGCAGACCCTATATGCCTGCGTCTAATG___TGCCTTCCTCAGACTGCTGTGAATCTTCACTTGTAGCACAAATTGTCACAAAAGTAAAAGAGCTAG___ACCCACCCAAGACTTATACCCAGGATGGTGTGTGTTTGACTGAATCAGGGATGACTCAGTTACAGAGCCTCACAGTTACAGTTCCAAGAAGAAAACGGTCAAAACCAAAATTGAAATTGAAGATTATAAATCAGAATAGCGTGGCCGTCCTTCAGACCCCTCCAGACATCCAATCAGAGCATTCAAGGGATGGTGAAATGGATGATAGTCGAG___AAGGAGAACTTATGGATTGTGATGGAAAATCAGAATCTAGTCCTGAGCGGGAAGCTGTGGATGATGAAACTAAGGGAGTGGAAGGAACAGATGGTGTCAAAAAGAGAAAAAGGAAACCATACAGACCAG___GTATTGGTGGATTTATGGTGCGGCAAAGAAGTCGAACTGGGCAAGGGAAAACCAAAAGATCTGTGATCAGAAAAGATTCCTCAGGCTCTATTTCCGAGCAGTTACCTTGCAGAGATGATG___GCTGGAGTGAGCAGTTACCAGATACTTTAGTTGATGAATCTGTTTCTGTTACTGAAAGCACTGAAAAAATAAAGAAGAGATACCGAAAAAGGAAAAATAAGCTTGAAGAAACTTTCCCTGCCTATTTACAA___GAAGCTTTCTTTGGAAAAGATCTTCTAGATACAAGTAGACAAAGCAAGATAAGTTTAGATAATCTGTCAGAAGATGGAGCTCAGCTTTTATATAAAACAAACATGAACACAGGTTTCTTGGATCCTTCCTTAGATCCACTACTTAGTTCATCCTCGGCTCCAACAAAATCTGGAACTCACG___GTCCTGCTGATGACCCATTAGCTGATATTTCTGAAGTTTTAAACACAGATGATGACATTCTTGGAATAATTTCAGATGATCTAGCAAAATCAGTTGATCATTCAG___ATATTGGTCCTGTCACTGATGATCCTTCCTCTTTGCCTCAGCCAAATGTCAATCAGAGTTCACGACCATTAAGTGAAGAACAGCTAGATGGGATCCTCAGTCCTGAACTAGACAAAATGGTCACAGATG___GAGCAATTCTTGGAAAATTATATAAAATTCCAG___AGCTTGGCGGAAAAGATGTTGAAGACTTATTTACAGCTGTACTTAGTCCTGCGAACACTCAGCCAACTCCATTGCCACAGCCTCCCCCACCAACACAGCTGTTGCCAATACACAATCAGG___ATGCTTTTTCACGGATGCCTCTCATGAATGGCCTTATTGGATCCAGTCCTCATCTCCCACATAATTCTTTGCCACCTGGAAGCGGACTGGGAACTTTCTCTGCAATTGCACAATCCTCTTATCCTGATGCCAG___GGATAAAAATTCAGCCTTTAATCCAATGGCAAGTGATCCTAACAACTCTTGGACATCATCAGCTCCCACTGTGGAAGGAGAAAATGACACAATGTCGAATGCCCAGAGAAGCACGCTTAAGTGGGAGAAAGAGGAGGCTCTGGGTGAAATGGCAACTGTTGCCCCAGTTCTCTACACCAATATTAATTTCCCCAACTTAAAGGAAGAATTCCCTG___ATTGGACTACTAGAGTGAAGCAAATTGCCAAATTGTGGAGAAAAGCAAGCTCACAAGAAAGAGCACCATATGTG___CAAAAAGCCAGAGATAACAGAGCTGCTTTACGCATTAATAAAGTACAGATGTCAAATGATTCCATGAAAAGGCAGCAACAGCAAGATAGCATTGATCCCAGCTCTCGTATTGATTCGGAGCTTTTTAAAGATCCTTTAAAGCAAAGAGAATCAGAACATGAACAGGAATGGAAATTTAGACAG___CAAATGCGTCAGAAAAGTAAGCAGCAAGCTAAAATTGAAGCCACACAGAAACTTGAACAGGTGAAAAATGAGCAGCAGCAGCAGCAACAACAGCAATTTGGTTCTCAGCATCTTCTGGTGCAGTCTGGTTCAGATACACCAAGTAGTGGGATACAGAGTCCCTTGACACCTCAGCCTGGCAATGGAAATATGTCTCCTGCACAGTCATTCCATAAAGAACTGTTTACAAAACAGCCACCCAGTACCCCTACGTCTACATCTTCAGATGATGTGTTTGTAAAGCCACAAGCTCCACCTCCTCCTCCAGCCCCATCCCGGATTCCCATCCAGGATAGTCTTTCTCAGGCTCAGACTTCTCAGCCACCCTCACCGCAAGTGTTTTCACCTGGGTCCTCTAACTCACGACCACCATCTCCAATGGATCCATATGCAAAAATGGTTGGTACCCCTCGACCACCTCCTGTGGGCCATAGTTTTTCCAGAAGAAATTCTGCTGCACCAGTGGAAAACTGTACACCTTTATCATCGGTATCTAGGCCCCTTCAAATGAATGAGACAACAGCAAATAGGCCATCCCCTGTCAGAGATTTATGTTCTTCTTCCACGACAAATAATGACCCCTATGCAAAACCTCCAGACACACCTAGGCCTGTGATGACAGATCAATTTCCCAAATCCTTGGGCCTATCCCGGTCTCCTGTAGTTTCAGAACAAACTGCAAAAGGCCCTATAGCAGCTGGAACCAGTGATCACTTTACTAAACCATCTCCTAGGGCAGATGTGTTTCAAAGACAAAGGATACCTGACTCATATGCACGACCCTTGTTGACACCTGCACCTCTTGATAGTGGTCCTGGACCTTTTAAGACTCCAATGCAACCTCCTCCATCCTCTCAGGATCCTTATGGATCAGTGTCACAGGCATCAAGGCGATTGTCTGTTGACCCTTATGAAAGGCCTGCTTTGACACCAAGACCTATAGATAATTTTTCTCATAATCAGTCAAATGATCCATATAGTCAGCCTCCCCTTACCCCACATCCAGCAGTGAATGAATCTTTTGCCCATCCTTCAAGGGCTTTTTCCCAGCCTGGAACCATATCAAGGCCAACATCTCAGGACCCATACTCCCAACCCCCAGGAACTCCACGACCTGTTGTAGATTCTTATTCCCAATCTTCAGGAACAGCTAGGTCCAATACAGACCCTTACTCTCAACCTCCTGGAACTCCCCGGCCTACTACTGTTGACCCATATAGTCAGCAGCCCCAAACCCCAAGACCATCTACACAAACTGACTTGTTTGTTACACCTGTAACAAATCAGAGGCATTCTGATCCATATGCTCATCCTCCTGGAACACCAAGACCTGGAATTTCTGTCCCTTACTCTCAGCCACCAGCAACACCAAGGCCAAGGATTTCAGAGGGTTTTACTAGGTCCTCAATGACAAGACCAGTCCTCATGCCAAATCAGGATCCTTTCCTGCAAGCAGCACAAAACCGAGGACCAGCTTTACCTGGCCCGTTGGTAAGGCCACCTGATACATGTTCCCAGACACCTAGGCCCCCTGGACCTGGTCTTTCAGACACATTTAGCCGTGTTTCCCCATCTGCTGCCCGTGATCCCTATGATCAGTCTCCAATGACTCCAAGATCTCAGTCTGACTCTTTTGGAACAAGTCAAACTGCCCATGATGTTGCTGATCAGCCAAGGCCTGGATCAGAGGGGAGCTTCTGTGCATCTTCAAACTCTCCAATGCACTCCCAAGGCCAGCAGTTCTCTGGTGTCTCCCAACTTCCTGGACCTGTGCCAACTTCAGGAGTAACTGATACACAGAATACTGTAAATATGGCCCAAGCAGATACAGAGAAATTGAGACAG___CGGCAGAAGTTACGTGAAATCATTCTCCAGCAGCAACAGCAGAAGAAGATTGCAGGTCGACAGGAGAAGGGGTCACAGGACTCACCCGCAGTGCCTCATCCAGGGCCTCTTCAACACTGGCAACCAGAGAATGTTAACCAGGCTTTCACCAGACCCCCACCTCCCTATCCTGGGAACATTAGGTCTCCTGTTGCCCCTCCTTTAGGACCTAGATATGCTGTTTTCCCAAAAGATCAGCGTGGACCCTATCCTCCTGATGTTGCTAGTATGGGGATGAGACCTCATGGATTTAG___ATTTGGATTTCCAGGAGGTAGTCATGGTACCATGCCGAGTCAAGAGCGCTTCCTTGTGCCTCCTCAGCAAATACAGGGATCTGGAGTTTCTCCACAGCTAAGAAGATCAGTATCTGTAGATATGCCTAGGCCTTTAAATAACTCACAAATGAATAATCCAGTTGGACTTCCTCAGCATTTTTCACCACAGAGCTTGCCAGTTCAGCAGCACAACATACTGGGCCAAGCATATATTGAACTGAGACATAGGGCTCCTGACGGAAGGCAACGGCTGCCTTTCAGTGCTCCACCTGGCAGCGTTGTAGAGGCATCTTCTAATCTGAGACATGGAAACTTCATTCCCCGGCCAGACTTTCCGGGCCCTAGACACACAGACCCCATGCGACGACCTCCCCAGGGTCTACCTAATCAGCTACCTGTGCACCCAGATTTGGAACAAGTGCCACCATCTCAACAAGAGCAAGGTCATTCTGTCCATTCATCTTCTATGGTCATGAGGACTCTGAACCATCCACTAGGTGGTGAATTTTCAGAAGCTCCTTTGTCAACATCTGTACCGTCTGAAACAACGTCTGATAATTTACAGATAACCACCCAGCCTTCTGATGGTCTAGAGGAAAAACTTGATTCTGATGACCCTTCTGTGAAGGAACTGGATGTTAAAGACCTTGAGGGGGTTGAAGTCAAAGACTTAGATGATGAAGATCTTGAAAACTTAAATTTAGATACAGAGGATGGCAAGGTAGTTGAATTGGATACTTTAGATAATTTGGAAACTAATGATCCCAACCTGGATGACCTCTTAAGGTCAGGAGAGTTTGATATCATTGCATATACAGATCCAGAACTTGACATGGGAGATAAGAAAAGCATGTTTAATGAGGAACTAGACCTTCCAATTGATGATAAGTTAGATAATCAGTGTGTATCTGTTGAACCAAAAAAAAAGGAACAAGAAAACAAAACTCTGGTTCTCTCTGATAAACATTCACCACAGAAAAAATCCACTGTTACCAATGAGGTAAAAACGGAAGTACTGTCTCCAAATTCTAAGGTGGAATCCAAATGTGAAACTGAAAAAAATGATGAGAATAAAGATAATGTTGACACTCCTTGCTCACAGGCTTCTGCTCACTCAGACCTAAATGATGGAGAAAAGACTTCTTTGCATCCTTGTGATCCAGATCTATTTGAGAAAAGAACCAATCGAGAAACTGCTGGCCCCAGTGCAAATGTCATTCAGGCATCCACTCAACTACCTGCTCAAGATGTAATAAACTCTTGTGGCATAACTGGATCAACTCCAGTTCTCTCAAGTTTACTTGCTAATGAGAAATCTGATAATTCAGACATTAGGCCATCGGGGTCTCCACCACCACCAACTCTGCCGGCCTCCCCATCCAATCATGTGTCAAGTTTGCCTCCTTTCATAGCACCGCCTGGCCGTGTTTTGGATAATGCCATGAATTCTAATGTGACAGTAGTCTCTAGGGTAAACCATGTTTTTTCTCAGGGTGTGCAGGTAAACCCAGGGCTCATTCCAGGTCAATCAACAGTTAACCACAGTCTGGGGACAGGAAAACCTGCAACTCAAACTGGGCCTCAAACAAGTCAGTCTGGTACCAGTAGCATGTCTGGACCCCAACAGCTAATGATTCCTCAAACATTAGCACAGCAGAATAGAGAGAGGCCCCTTCTTCTAGAAGAACAGCCTCTACTTCTACAGGATCTTTTGGATCAAGAAAGGCAAGAACAGCAGCAGCAAAGACAGATGCAAGCCATGATTCGTCAGCGATCAGAACCGTTCTTCCCTAATATTG___ATTTTGATGCAATTACAGATCCTATAATGAAAGCCAAAATGGTGGCCCTTAAAGGTATAAATAAAGTGATGGCACAAAACAATCTGGGCATGCCACCAATGGTGATGAGCAG___GTTCCCTTTTATGGGCCAGGTGGTAACTGGAACACAGAACAGTGAAGGACAGAACCTTGGACCACAGGCCATTCCTCAG___GATGGCAGTATAACACATCAGATTTCTAGGCCTAATCCTCCAAATTTTGGTCCAGGCTTTGTCA___ATGATTCACAGCGTAAGCAGTATGAAGAGTGGCTCCAGGAGACCCAACAGCTGCTTCAAATGCAGCAGAAGTATCTTGAAGAACAAATTGGTGCTCACAGAAAATCTAAGAAGGCCCTTTCAGCTAAACAACGTACTGCCAAGAAAGCTGGGCGTGAATTTCCAGAGGAAGATGCAGAACAACTCAAGCATGTTACTGAACAGCAAAGCATGGTTCAGAAACAGCTAGAACAG___ATTCGTAAACAACAGAAAGAACATGCTGAATTGATTGAAGATTATCGGATCAAACAGCAGCAGCAATGTGCAATGGCCCCACCTACCATGATGCCCAGTGTCCAGCCCCAGCCACCCCTAATTCCAGGTGCCACTCCACCCACCATGAGCCAACCCACCTTTCCCATGGTGCCACAGCAGCTTCAGCACCAGCAGCACACAACAGTTATTTCTGGCCATACTAGCCCTGTTAGAATGCCCAGTTTACCTGGATGGCAACCCAACAGTGCTCCTGCCCACCTGCCCCTCAATCCTCCTAGAATTCAGCCCCCAATTGCCCAGTTACCAATAAAAACTTGTACACCAGCCCCAGGGACAGTCTCAAATGCAAATCCACAGAGTGGACCACCACCTCGGGTAGAATTTGATGACAACAATCCCTTTAGTGAAAGTTTTCAAGAACGGGAACGTAAGGAACGTTTACGAGAACAGCAAGAGAGACAACGGATCCAACTCATGCAGGAGGTAGATAGACAAAGAGCTTTGCAGCAGAGGATGGAAATGGAGCAGCATGGTATGGTGGGCTCTGAGATAAGTAGTAGTAGGACATCTGTGTCCCAGATTCCCTTCTACAGTTCCGACTTACCTTGTGATTTTATGCAACCTCTAGGACCCCTTCAGCAGTCTCCACAACACCAACAGCAAATGGGGCAGGTTTTACAGCAGCAGAATATACAACAAGGATCAATTAATTCACCCTCCACCCAAACTTTCATGCAGACTAATGAGCGAAGGCAGGTAGGCCCTCCTTCATTTGTTCCTGATTCACCATCAATCCCTGTTGGAAGCCCAAATTTTTCTTCTGTGAAGCAGGGACATGGAAATCTTTCTGGGACCAGCTTCCAGCAGTCCCCAGTGAGGCCTTCTTTTACACCTGCTTTACCAGCAGCACCTCCAGTAGCTAATAGCAGTCTCCCATGTGGCCAAGATTCTACTATAACCCATGGACACAGTTATCCGGGATCAACCCAATCGCTCATTCAGTTGTATTCTGATATAATCCCAGAGGAAAAAGGGAAAAAGAAAAGAACAAGAAAGAAGAAAAGAGATGATGATGCAGAATCCACCAAGGCTCCATCAACTCCCCATTCAGATATAACTGCCCCACCGACTCCAGGCATCTCAGAAACTACCTCTACTCCTGCAGTGAGCACACCCAGTGAGCTTCCTCAACAAGCCGACCAAGAGTCGGTGGAACCAGTCGGCCCATCCACTCCCAATATGGCAGCAGGCCAGCTATGTACAGAATTAGAGAACAAACTGCCCAATAGTGATTTCTCACAAGCAACTCCAAATCAACAGACGTATGCAAATTCAGAAGTAGACAAGCTCTCCATGGAAACCCCTGCCAAAACAGAAGAGATAAAACTGGAAAAGGCTGAGACAGAGTCCTGCCCAGGCCAAGAGGAGCCTAAATTGGAGGAACAGAATGGTAGTAAGGTAGAAGGAAACGCTGTAGCCTGTCCTGTCTCCTCAGCACAGAGTCCTCCCCATTCTGCTGGGGCCCCTGCTGCCAAAGGAGACTCAGGGAATGAACTTCTGAAACACTTGTTGAAAAATAAAAAGTCATCTTCTCTTTTGAATCAAAAACCTGAGGGCAGTATTTGTTCAGAAGATGACTGTACAAAGGATAATAAACTAGTTGAGAAGCAGAACCCAGCTGAAGGACTG___CAAACTTTGGGGGCTCAAATGCAAGGTGGTTTTGGATGTGGCAACCAGTTGCCAAAAACAGATGGAGGAAGTGAAACCAAGAAACAGCGAAGCAAACGGACTCAGAGGACGGGTGAGAAAGCAGCACCTCGCTCAAAGAAAAGGAAAAAGGACGAAGAGGAGAAACAAGCTATGTACTCTAGCACTGACACGTTTACCCACTTGAAACAG___CAGAATAATTTAAGTAATCCTCCAACACCCCCTGCCTCTCTTCCTCCTACACCACCTCCTATGGCTTGTCAGAAGATGGCCAATGGTTTTGCAACAACTGAAGAACTTGCTGGAAAAGCCGGAGTGTTAGTGAGCCATGAAG___TTACCAAAACTCTAGGACCTAAACCATTTCAGCTGCCCTTCAGACCCCAGGACGACTTGTTGGCCCGAGCTCTTGCTCAGGGCCCCAAGACAGTTGATGTGCCAGCCTCCCTCCCAACACCACCTCATAACAATCAGGAAGAATTAAG___GATACAGGATCACTGTGGTGATCGAGATACTCCTGACAGTTTTGTTCCCTCATCCTCTCCTGAGAGTGTGGTTGGGGTAGAAGTGAGCAGGTATCCAGATCTGTCATTGGTCAAGGAGGAGCCTCCAGAACCGGTGCCGTCCCCCATCATTCCAATTCTTCCTAGCACTGCTGGGAAAA___GTTCAGAATCAAGAAGGAATGACATCAAAACTGAGCCAGGCACTTTATATTTTGCGTCACCTTTTGGTCCTTCCCCAAATGGTCCCAGATCAGGTCTTATATCTGTAGCAATTACTCTGCATCCTACAGCTGCTGAG___AACATTAGCAGTGTTGTGGCTGCATTTTCCGACCTTCTTCACGTCCGAATCCCTAACAGCTATGAGGTTAGCAGTGCTCCAGATGTCCCATCCATGGGTTTGGTCAGTAGCCACAGAATCAACCCGGGTTTGGAGTATCGACAGCATTTACTTCTCCGTGGGCCTCCGCCAGGATCTGCAAACCCTCCCAGATTAGTGAGCTCTTACCGGCTGAAGCAGCCTAATGTACCATTTCCTCCAACAAGCAATG___GTCTTTCTGGATATAAGGATTCTAGTCATGGTATTGCAGAAAGCGCAGCACTCAGACCACAGTGGTGTTGTCATTGTAAAGTGGTTATTCTTGGAAGTGGTGTGCGGAAATCTTTCAAAGATCTGACCCTTTTGAACAAG___GATTCCCGAGAAAGCACCAAGAGGGTAGAGAAGGACATTGTCTTCTGTAGTAATAACTGCTTTATTCTTTATTCATCAACTGCACAAGCGAAAAACTCAGAAAACAAG___GAATCCATTCCTTCATTGCCACAATCACCTATGAGAGAAACGCCTTCCAAAGCATTTCATCAGTACAGCAACAACATCTCCACTTTGGATGTGCACTGTCTCCCCCAGCTCCCAGAGAAAGCTTCTCCCCCTGCCTCACCACCCATCGCCTTCCCTCCTGCTTTTGAAGCAGCCCAAGTCGAGGCCAAGCCAGATGAGCTGAAGGTGACAGTCAAGCTGAAGCCTCGGCTAAGAGCTGTCCATGGTGGGTTTGAAGATTGCAGGCCGCTCAATAAAAAATGGAGAGGAATGAAATGGAAGAAGTGGAGCATTCATATTGTAATCCCTAAGGGGACATTTAAACCACCTTGTGAGGATGAAATAGATGAATTTCTAAAGAAATTGGGCACTTCCCTTAAACCTGATCCTGTGCCCAAAGACTATCGGAAATGTTGCTTTTGTCATGAAGAAGGTGATGGATTGACAGATGGACCAGCAAGGCTACTCAACCTTGACTTGGATCTGTGGGTCCACTTGAACTGCGCTCTGTGGTCCACGGAGGTCTATGAGACTCAGGCTGGTGCCTTAATAAATGTGGAGCTAGCTCTGAGGAGAGGCCTACAAATGAAATGTGTCTTCTGTCAC)AAGACGGGTGCCACTAGTGGATGCCACAGATTTCGATGCACCAACATTTATCACTTCACTTGCGCCATTAAAGCACAATGCATGTTTTTTAAGGACAAAACTATGCTTTGCCCCATGCACAAACCAAAGGGAATTCATGAGCAAGAATTAAGTTACTTTGCAGTCTTCAGGAGGGTCTATGTTCAGCGTGATGAGGTGCGACAGATTGCTAGCATCGTGCAACGAGGAGAACGGGACCATACCTTTCGCGTGGGTAGCCTCATCTTCCACACAATTGGTCAGCTGCTTCCACAGCAGATGCAAGCATTCCATTCTCCTAAAGCACTCTTCCCTGTGGGCTATGAAGCCAGCCGGCTGTACTGGAGCACTCGCTATGCCAATAGGCGCTGCCGCTACCTGTGCTCCATTGAGGAGAAGGATGGGCGCCCAGTGTTTGTCATCAGGATTGTGGAACAAGGCCATGAAGACCTGGTTCTAAGT|CGGGAGTGCGGACTGGGCGTGGTCACTGACCCCGAGCGTCCCCTCCTTCTGGCTGACACGCGGCTGCAGACGCAGGAGCCTCCTGCTGGCGACTGGAGTGTC$ MSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIKEQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDNSNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQMEEPLLVNVDKAVVSGSTERCAFCKHLGATIKCCEEKCTQMYHYPCAAGAGTFQDFSHIFLLCPEHIDQAPERSKEDANCAVCDSPGDLLDQFFCTTCGQHYHGMCLDIAVTPLKRAGWQCPECKVCQNCKQSGEDSKMLVCDTCDKGYHTFCLQPVMKSVPTNGWKCKNCRICIECGTRSSSQWHHNCLICDNCYQQQDNLCPFCGKCYHPELQKDMLHCNMCKRWVHLECDKPTDHELDTQLKEEYICMYCKHLGAEMDRLQPGEEVEIAELTTDYNNEMEVEGPEDQMVFSEQAANKDVNGQESTPGIVPDAVQVHTEEQQKSHPSESLDTDSLLIAVSSQHTVNTELEKQISNEVDSEDLKMSSEVKHICGEDQIEDKMEVTENIEVVTHQITVQQEQLQLLEEPETVVSREESRPPKLVMESVTLPLETLVSPHEESISLCPEEQLVIERLQGEKEQKENSELSTGLMDSEMTPTIEGCVKDVSYQGGKSIKLSSETESSFSSSADISKADVSSSPTPSSDLPSHDMLHNYPSALSSSAGNIMPTTYISVTPKIGMGKPAITKRKFSPGRPRSKQGAWSTHNTVSPPSWSPDISEGREIFKPRQLPGSAIWSIKVGRGSGFPGKRRPRGAGLSGRGGRGRSKLKSGIGAVVLPGVSTADISSNKDDEENSMHNTVVLFSSSDKFTLNQDMCVVCGSFGQGAEGRLLACSQCGQCYHPYCVSIKITKVVLSKGWRCLECTVCEACGKATDPGRLLLCDDCDISYHTYCLDPPLQTVPKGGWKCKWCVWCRHCGATSAGLRCEWQNNYTQCAPCASLSSCPVCYRNYREEDLILQCRQCDRWMHAVCQNLNTEEEVENVADIGFDCSMCRPYMPASNVPSSDCCESSLVAQIVTKVKELDPPKTYTQDGVCLTESGMTQLQSLTVTVPRRKRSKPKLKLKIINQNSVAVLQTPPDIQSEHSRDGEMDDSREGELMDCDGKSESSPEREAVDDETKGVEGTDGVKKRKRKPYRPGIGGFMVRQRSRTGQGKTKRSVIRKDSSGSISEQLPCRDDGWSEQLPDTLVDESVSVTESTEKIKKRYRKRKNKLEETFPAYLQEAFFGKDLLDTSRQSKISLDNLSEDGAQLLYKTNMNTGFLDPSLDPLLSSSSAPTKSGTHGPADDPLADISEVLNTDDDILGIISDDLAKSVDHSDIGPVTDDPSSLPQPNVNQSSRPLSEEQLDGILSPELDKMVTDGAILGKLYKIPELGGKDVEDLFTAVLSPANTQPTPLPQPPPPTQLLPIHNQDAFSRMPLMNGLIGSSPHLPHNSLPPGSGLGTFSAIAQSSYPDARDKNSAFNPMASDPNNSWTSSAPTVEGENDTMSNAQRSTLKWEKEEALGEMATVAPVLYTNINFPNLKEEFPDWTTRVKQIAKLWRKASSQERAPYVQKARDNRAALRINKVQMSNDSMKRQQQQDSIDPSSRIDSELFKDPLKQRESEHEQEWKFRQQMRQKSKQQAKIEATQKLEQVKNEQQQQQQQQFGSQHLLVQSGSDTPSSGIQSPLTPQPGNGNMSPAQSFHKELFTKQPPSTPTSTSSDDVFVKPQAPPPPPAPSRIPIQDSLSQAQTSQPPSPQVFSPGSSNSRPPSPMDPYAKMVGTPRPPPVGHSFSRRNSAAPVENCTPLSSVSRPLQMNETTANRPSPVRDLCSSSTTNNDPYAKPPDTPRPVMTDQFPKSLGLSRSPVVSEQTAKGPIAAGTSDHFTKPSPRADVFQRQRIPDSYARPLLTPAPLDSGPGPFKTPMQPPPSSQDPYGSVSQASRRLSVDPYERPALTPRPIDNFSHNQSNDPYSQPPLTPHPAVNESFAHPSRAFSQPGTISRPTSQDPYSQPPGTPRPVVDSYSQSSGTARSNTDPYSQPPGTPRPTTVDPYSQQPQTPRPSTQTDLFVTPVTNQRHSDPYAHPPGTPRPGISVPYSQPPATPRPRISEGFTRSSMTRPVLMPNQDPFLQAAQNRGPALPGPLVRPPDTCSQTPRPPGPGLSDTFSRVSPSAARDPYDQSPMTPRSQSDSFGTSQTAHDVADQPRPGSEGSFCASSNSPMHSQGQQFSGVSQLPGPVPTSGVTDTQNTVNMAQADTEKLRQRQKLREIILQQQQQKKIAGRQEKGSQDSPAVPHPGPLQHWQPENVNQAFTRPPPPYPGNIRSPVAPPLGPRYAVFPKDQRGPYPPDVASMGMRPHGFRFGFPGGSHGTMPSQERFLVPPQQIQGSGVSPQLRRSVSVDMPRPLNNSQMNNPVGLPQHFSPQSLPVQQHNILGQAYIELRHRAPDGRQRLPFSAPPGSVVEASSNLRHGNFIPRPDFPGPRHTDPMRRPPQGLPNQLPVHPDLEQVPPSQQEQGHSVHSSSMVMRTLNHPLGGEFSEAPLSTSVPSETTSDNLQITTQPSDGLEEKLDSDDPSVKELDVKDLEGVEVKDLDDEDLENLNLDTEDGKVVELDTLDNLETNDPNLDDLLRSGEFDIIAYTDPELDMGDKKSMFNEELDLPIDDKLDNQCVSVEPKKKEQENKTLVLSDKHSPQKKSTVTNEVKTEVLSPNSKVESKCETEKNDENKDNVDTPCSQASAHSDLNDGEKTSLHPCDPDLFEKRTNRETAGPSANVIQASTQLPAQDVINSCGITGSTPVLSSLLANEKSDNSDIRPSGSPPPPTLPASPSNHVSSLPPFIAPPGRVLDNAMNSNVTVVSRVNHVFSQGVQVNPGLIPGQSTVNHSLGTGKPATQTGPQTSQSGTSSMSGPQQLMIPQTLAQQNRERPLLLEEQPLLLQDLLDQERQEQQQQRQMQAMIRQRSEPFFPNIDFDAITDPIMKAKMVALKGINKVMAQNNLGMPPMVMSRFPFMGQVVTGTQNSEGQNLGPQAIPQDGSITHQISRPNPPNFGPGFVNDSQRKQYEEWLQETQQLLQMQQKYLEEQIGAHRKSKKALSAKQRTAKKAGREFPEEDAEQLKHVTEQQSMVQKQLEQIRKQQKEHAELIEDYRIKQQQQCAMAPPTMMPSVQPQPPLIPGATPPTMSQPTFPMVPQQLQHQQHTTVISGHTSPVRMPSLPGWQPNSAPAHLPLNPPRIQPPIAQLPIKTCTPAPGTVSNANPQSGPPPRVEFDDNNPFSESFQERERKERLREQQERQRIQLMQEVDRQRALQQRMEMEQHGMVGSEISSSRTSVSQIPFYSSDLPCDFMQPLGPLQQSPQHQQQMGQVLQQQNIQQGSINSPSTQTFMQTNERRQVGPPSFVPDSPSIPVGSPNFSSVKQGHGNLSGTSFQQSPVRPSFTPALPAAPPVANSSLPCGQDSTITHGHSYPGSTQSLIQLYSDIIPEEKGKKKRTRKKKRDDDAESTKAPSTPHSDITAPPTPGISETTSTPAVSTPSELPQQADQESVEPVGPSTPNMAAGQLCTELENKLPNSDFSQATPNQQTYANSEVDKLSMETPAKTEEIKLEKAETESCPGQEEPKLEEQNGSKVEGNAVACPVSSAQSPPHSAGAPAAKGDSGNELLKHLLKNKKSSSLLNQKPEGSICSEDDCTKDNKLVEKQNPAEGLQTLGAQMQGGFGCGNQLPKTDGGSETKKQRSKRTQRTGEKAAPRSKKRKKDEEEKQAMYSSTDTFTHLKQQNNLSNPPTPPASLPPTPPPMACQKMANGFATTEELAGKAGVLVSHEVTKTLGPKPFQLPFRPQDDLLARALAQGPKTVDVPASLPTPPHNNQEELRIQDHCGDRDTPDSFVPSSSPESVVGVEVSRYPDLSLVKEEPPEPVPSPIIPILPSTAGKSSESRRNDIKTEPGTLYFASPFGPSPNGPRSGLISVAITLHPTAAENISSVVAAFSDLLHVRIPNSYEVSSAPDVPSMGLVSSHRINPGLEYRQHLLLRGPPPGSANPPRLVSSYRLKQPNVPFPPTSNGLSGYKDSSHGIAESAALRPQWCCHCKVVILGSGVRKSFKDLTLLNKDSRESTKRVEKDIVFCSNNCFILYSSTAQAKNSENKESIPSLPQSPMRETPSKAFHQYSNNISTLDVHCLPQLPEKASPPASPPIAFPPAFEAAQVEAKPDELKVTVKLKPRLRAVHGGFEDCRPLNKKWRGMKWKKWSIHIVIPKGTFKPPCEDEIDEFLKKLGTSLKPDPVPKDYRKCCFCHEEGDGLTDGPARLLNLDLDLWVHLNCALWSTEVYETQAGALINVELALRRGLQMKCVFCHKTGATSGCHRFRCTNIYHFTCAIKAQCMFFKDKTMLCPMHKPKGIHEQELSYFAVFRRVYVQRDEVRQIASIVQRGERDHTFRVGSLIFHTIGQLLPQQMQAFHSPKALFPVGYEASRLYWSTRYANRRCRYLCSIEEKDGRPVFVIRIVEQGHEDLVLS|recglgvvtdperpllladtrlqtqeppagdwsv 14BR005 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51877282 chr19:51855967 CDS/splice-site intergenic deletion/read-through 1 2 0 41 30 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTA)CATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAGACCATCAGCCTTCAACCACCACCCTTGTATCAGAGGAGACAAATAAGCTTGG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|dlhyrwktaasepq* 14BR005 ENSG00000166016.6 ENSG00000135372.9(3694),ENSG00000166016.6(385) -/+ ./+ chr11:34152559 chr11:34150602 CDS intergenic duplication 2 1 0 8 3 medium . . . . . ENSG00000166016.6 . . . downstream upstream . AGACAGAGTGCACGCGCTCTGCCAGGGTGTTCTGCAGGTCCTGCAGTGGATCCAGGCCCTGCACTTTGCTGCTGCGGCCGTAGATGAGCTGCCGGAAGGCATCCTGCTCCAGTAGGGCCTTCATGTGCTTGAGGAAGAAGCCCTCACAGAACA|TGGTGGGCTGTGCCATTTGGGGATGTGCCTCTGAAGACAACCCCCAAAATAGCTCCCACATAAAGGGCCGTGGAGGGGATGGGAGTGGAGATCAGG . 14BR005 ENSG00000278621.1 ENSG00000259345.7 -/- -/- chr15:39588397 chr15:39071608 exon exon/splice-site deletion 0 3 0 87 20 medium . . . . . ENSG00000278621.1 ENSG00000259345.7 ENST00000616754.1 ENST00000560197.5 upstream downstream . ^(CAGTGTAAGATATTATAGGGTATAGGGAACCGATAACTTGTTGGGATTATGTTGTCCACCTGCATCTTAGAGCAATCAAATCGCTCAGGACTAACCAAGCTGGAATCTCCTCGAATGCTGACTGCAGCATTCAGTAAAAGAGCAAAGCTCCTGGGTCGTTTCATCCTGGGCTGCGTGGCTCACCAATTGGACAGTCCTGCTTGTTGCAGATCTGGTTTTCTGTTACATCACCAACGCAGTCCTTGCCTCCAAACTGGGGTGTGGGGTTGTTGCAGAGACGACTACGTTTCTGTACCCCTCCTCCACAGGTGACAGAACAGATGTCCCATGGTGACCAAGGACCCCAGCCTCCATTGACTGTAAGAAGATGAACCACAGGCAACAATTAAGATCAACTTTCAAATCCCTCCCTTGTCATAGACT)CTCCTAAGCCCGTTCAAGAAACCTCTGCTTCTCTGACACATGGAAAGAATGCTGGGGAAGAGG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG(___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 14BR005 ENSG00000186086.18 ENSG00000238118.1 +/- -/- chr1:108464375 chr1:108410139 intron exon/splice-site deletion/read-through/3'-3' 2 1 0 13 118 medium . . . . . ENSG00000186086.18 ENSG00000238118.1 . ENST00000415059.1 upstream downstream . GTTCCAGGGGCTCTGGGAGTGGCTGCCAG___GGAGAGGAATACACGTTCTGAGTGGACTAAGAAAAGACTTCCAATGACCTCACGCCAGTCCAG|CATGGATAGTGATGGATCAATGACAGTAGACTGGGATGAATGGAAGTACTACTTTTTACTGCATCCTGCAACAAATATCACTGAAATGATTCATTTCTGGAAGCATTCTACT(___TTAATTGATATAGGAGAGAGTATAGCTATTCCAGATGAATTTACCGAACAAGAAAAGCAGTCTGGAGATTGGTGGAAGCGTTTGGTGTCAGCAGGAATAGCTAGTGCGGTTGCACGGACATGCACGGCACCTTTAGACCGCTTGAAAGTCATGATGCAG)$ . 14BR005 ENSG00000249484.9(175151),ENSG00000155511.18(342239) ENSG00000249484.9 ./- -/- chr5:153148416 chr5:152684785 intergenic exon/splice-site deletion 0 2 0 4 5 medium . . . . . . ENSG00000249484.9 . ENST00000663464.1 upstream downstream duplicates(1) GTACTGTAGTCTGAGCTCCCTGATCAGCCGCGGGGAG|ATGGTAGTCTGAAAGGGACAGAATGAGAGAGGGAGCTGGAGAAAGAAATGAATAAACACGAATGCATCTGGAGAATGAGGCATCTTGGAATCTGGAAAGTGAGGCATCCTGGAAGAGAGATGAAG(___CAGATGCTACCTGATTTGTGCTCCAGCTAATGTCACTCACGTCAGGAGTGTTGCCAAATGCAATGAGGTGCGACTGACACCAGGGAAGATGATGAGCAAAGAGAATGGCAGCTGGCTGTGTTTCCTTCTTATAGCATTTTAATGAATCAAGGAGCATCCTGATAGAGTACATCTGGACATGCTAGAAGCCAGACTCTAAGATCCGAGAACCCTAAGGCGGCTCCATCTTCATGACAGGGAGGATGGGTCCTGAATAGAGGGATGAGGCCTGAGAAATATAAAAGGCAGTTGCAGTGCTATAGAAAGAACTATACATTAGTGGTTAGAAAACCTGAGTTCTCTCTCACTCTGTGTTACTCATTAGTTTTTTGACTTAGGCAAAATGTTTGTCTTACTCGAGACTCTTTTAACAATAAAAACACACTAGAGTTACCAACAGGGTCCCAAAGGCAGTGGATAGGGGATCTAGAAAGCTACTACAAGGGGCCCATTCCTCTTTCATTATTGCTTCCCTTTCTTCTCTCTCTCTGACAATCAGCTTTTTTTCCTTTACCTCCCAGTCTGCCTGGTGGAAGACAAGATAATCCAAGTTTTCATGGTATAGGTCCAGCCACAAGGAAAGACTGATTCCTGATTCTCATTTCCATGTTTAATTCCTAGCTGAAGGTATGATAGGCCTAGCTAATTCCCCCTCACCAAAAAGTATGAACAGAGTGTGTATGAATTTTAGACATCATGCCTGAGGCCCACTCCTTTGGCCCAATAGATGGTGGATCAGTTCTCATTTCAAGGGGACTGTTTGTCAGCTGAGATGTTTCCAAAGGTATTCATTTGCTTGTGTAACTTTATTTCCTCAAAAGTAAAATCTGACCTC)$ . 14BR005 ENSG00000048392.12 ENSG00000169946.14 -/- +/+ chr8:102207289 chr8:105412947 3'UTR intron inversion 1 0 1 83 3 medium stop-codon . Ribonucleotide_reductase__small_chain(100%)|Zinc-finger_of_C2H2_type(100%) . . ENSG00000048392.12 ENSG00000169946.14 ENST00000251810.8 . upstream upstream mismappers(1) ^(AGCGGACCACCTGGGTGCTGTCGTAGTTGGAGGTGGCCTGAGGAGCTCAGTTCCCTCAGCGCCCGTAGCTTCGGCGGAGTCTGCGCGATGGGCGACCCGGAAAGGCCGGAAGCGGCCGGGCTGGATCAGGATGAG___AGATCATCTTCAGACACCAACGAAAGTGAAATAAAGTCAAATGAAGAGCCACTCCTAAGAAAGAGTTCTCGCCGGTTTGTCATCTTTCCAATCCAGTACCCTGATATTTGGAAAATGTATAAACAGGCACAGGCTTCCTTCTGGACAGCAGAAGAG___GTCGACTTATCAAAGGATCTCCCTCACTGGAACAAGCTTAAAGCAGATGAGAAGTACTTCATCTCTCACATCTTAGCCTTTTTTGCAGCCAGTGATGGAATTGTAAATGAAAATTTG___GTGGAGCGCTTTAGTCAGGAGGTGCAGGTTCCAGAGGCTCGCTGTTTCTATGGCTTTCAAATTCTCATCGAGAATGTTCACTCAGAGATGTACAGTTTGCTGATAGACACTTACATCAGAGATCCCAAGAAAAG___GGAATTTTTATTTAATGCAATTGAAACCATGCCCTATGTTAAGAAAAAAGCAGATTGGGCCTTGCGATGGATAGCAGATAGAAAATCTACTTTTG___GGGAAAGAGTGGTGGCCTTTGCTGCTGTAGAAGGAGTTTTCTTCTCAGGATCTTTTGCTGCTATATTCTGGCTAAAGAAGAGAGGTCTTATGCCAGGACTCACTTTTTCCAATGAACTCATCAGCAGAGATGAA___GGACTTCACTGTGACTTTGCTTGCCTGATGTTCCAATACTTAGTAAATAAGCCTTCAGAAGAAAGGGTCAGGGAGATCATTGTTGATGCTGTCAAAATTGAGCAG___GAGTTTTTAACAGAAGCCTTGCCAGTTGGCCTCATTGGAATGAATTGCATTTTGATGAAACAGTACATTGAGTTTGTAGCTGACAGATTACTTGTGGAACTTGGATTCTCAAAG___GTTTTTCAGGCAGAAAATCCTTTTGATTTTATGGAAAACATTTCTTTAGAAGGAAAAACAAATTTCTTTGAGAAACGAGTTTCAGAGTATCAGCGTTTTGCAGTTATGGCAGAAACCACAGATAACGTCTTCACCTTGGATGCAGATTTTTAAAAAACCTCTCGTTTTAAAACTCTATAAACTTGTCATTGGTAAATAGTAGTCTATTTTCCTCTGCTTAAAAAAAATTTTAAGTATATCCTTTAAAGGACTGGGGGTTTGCTCAAAAGGAAATCCAAAACCTATTCTAAACAATTTGCATTTATATAATTTTCCTGTTTAACAACAAGAGTGTGACCTAAATGCTTTTGTCTTGTCACTGAAATAAAAGATGGCATTATGTGGTTAAGAGCATGGGGCGAGGGGTCAGACATGAGTCTAAGGTTCTGCCCTTACTCCAGTGTGTGACCCTTGGCAAGTCAGTTAATCTTGGTAAACCTCGGTGTACTTATCTTTAAAATGGGAGTAATAGTAGGTCCTAAATTCATAGAGTGGATATTAGGATTAGGATGCAAAAATAAATGCTTAACCAACACTACTACTGTTAGCACCACTACTAATTATCATTCATTGATAATATTAATTGCAATGATGTTGTAATAAAATACTCTCATTTCCTTAAAATAATTGTGATTCTAGGTCCTAGGATCTAGAATTAGATCTTTGTATTTTTAATGCTTAGGGGAAGAATATAAGTATCTCCTTAAAAAGAACATAATTCTCATTCACGCAAGAATAAGTTCTTTGAATTCCTTAGTATGTAGTGAAGAAAATTTAGTTGTTAGTTGCTTTGGGAAGCCTA)CTTATGGAGTGGAAACCAGGAGGTTATCATGGTAGTTGACCTTATAAGAAAAATGATTCTTCTTCAGAAATTAAAAACATAACTATTGCCAGATTTAGCTCTGGAATGTTTAGAATCAGGCTAGAATAGCATTTTCCAAAGAATATTCTAAGAGCT|CCAGATAAAATTAGTAAAAACGTATTAGTAATTTCAAGCTAGAAACGTTCCTACTGCATAATTAAGAGAGGAGGGGAACGTTTTCCTGGGATTTAGCTTTTTAATTTAGAGTCGGGTTATTTTTTTCCCCAATACTAATTGAACAAACAGGATATATACGTACAGAACATATC . 14BR005 ENSG00000241361.8(35349),ENSG00000243967.4(2636) ENSG00000186086.18 ./+ +/+ chr1:108373202 chr1:108450567 intergenic 5'UTR/splice-site deletion/read-through 0 1 1 18 82 medium . . |Repeat_of_unknown_function_(DUF1220)(100%) . . . ENSG00000186086.18 . ENST00000495380.6 downstream upstream mismatches(1) CCCTGCCAACTTCAGGGAGGTGGGAACCCAGCTGCGCTCTCTACAGTATGGGTTACTTTTGTGTCTGGAAGGTGTCTGACATCCTGAGACCTGGACCCATTTCAAGGAGCTTTGGGAAGAGCCCAGATCACTGATGGAATTGGACAGTGCGTGGAAATGGTTCAGCAGGATGAGG|TCCCTGGCTCTACCTCTTCTGCCACAAACGTCAGCATGGTGGTATCTGCCGACCCTTTGTCCAGCGAGAGGGCAGAGATGAACATCCTAGAAATCAACCAGGAATTGCGCTCGCAGCTGGCAGAGAGCAATCAGCAGTTCCGAGACCTCAAAGAGAAATTCCTTATAACTCAAGCTACTGCCTACTCCCTGGCCAACCAGCTGAAGAAATACA___AGTGTGAAGAGTACAAAGACATC(ATAGACTCTGTGCTGAGGGATGAACTGCAGTCCATGGAGAAGCTGGCAGAGAAGCTCAGGCAAGCTGAGGAGCTCAG___GCAGTATAAAGCCCTGGTTCACTCTCAGGCAAAAGAGCTGACCCAGTTACGGGAGAAGTTACGGGAAGGGAGAGATGCCTCCCGCTGGCTGAACAAGCATCTGAAAACCCTCCTCACTCCTGATGACCCTGACAAGTCCCAGGGTCAGGACCTCCGAGAGCAGCTGGCTGAGGGGCACAGGCTGGCAGAGCACCTTGTTCACAAGCTGAGCCCAG___AAAATGATGAAGATGAAGATGAGGATGAAGACGACAAAGACGAGGAGGTTGAGAAAGTACAGGAATCACCTGCCCCCAG___AGAGGTGCAGAAGACTGAAGAAAAGGAAGTCCCTCAGGACTCACTGGAGGAATGTGCTGTCACTTGTTCAAATAGTCACAACCCTTCTAACTCCAACCAGCCTCACAGGAGCACCAAAATCACATTTAAGGAACACGAAGTCGACTCTGCTCTGGTTGTAGAGAGTGAACACCCTCATGATGAAGAGGAGGAAGCTCTAAACATTCCCCCAG___AAAATCAAAATGACCATGAGGAGGAGGAGGGGAAAGCGCCAGTGCCCCCCAG___ACACCATGACAAGTCCAACTCTTACCGGCATCGTGAAGTCTCTTTCTTGGCATTGGATGAACAGAAAGTTTGCTCCGCTCAGGATGTTGCCAGGGATTACTCCAATCCCAAATGGGATGAAACCTCACTTGGCTTCCTCG___AAAAGCAAAGTGATCTTGAAGAGGTGAAAGGACAAGAAACAGTTGCTCCCAG___GCTCAGCAGGGGACCGCTGAGAGTGGACAAGCATGAAATCCCCCAGGAGTCACTGGATGGATGTTGCTTGACTCCTTCCATCCTTCCTGACCTGACTCCCTCCTACCACCCTTATTGGAGCACTTTGTACTCTTTTGAAGACAAGCAAGTCAGCTTGGCTCTTGTAGACA___AAATTAAAAAGGATCAAGAGGAGATAGAAGACCAAAGCCCACCATGCCCCAG___GCTCAGCCAGGAGCTGCCAGAGGTGAAGGAGCAGGAAGTCCCAGAGGACTCTGTGAATGAAGTTTACTTGACTCCCTCAGTTCACCATGACGTGTCTGACTGCCACCAGCCTTATAGCAGCACCTTGTCCTCATTGGAGGATCAGCTTGCCTGCTCTGCTCTGGATGTAGCCT___CCCCCACCGAGGCGGCCTGTCCCCAAGGGACTTGGAGTGGAGACTTGAGCCACCACCGGTCAGAGGTTCAAATTTCACAGGCACAGCTGGAACCAAGCACCCTGGTGCCCAGTTGTCTGCGACTACAGCTGGATCAAGGGTTCCACTGTGGGAACGGCTTGGCCCAGCGGGGCCTTTCCTCCACCACCTGCAGCTTCTCAGCCAATGCTGATTCTGGGAACCAATGGCCCTTCCAAG___AGCTGGTTTTAGAGCCCTCTCTGGGGATGAAGAACCCTCCCCAGCTGGAAGATGATGCACTTGAAGGCTCAGCAAGCAACACACAAGGGCGTCAAGTCACTGGCCGGATTCGTGCCTCCCTTGTCCTGATACTGAAGACCATCAGAAGAAGACTCCCGTTCAGCAAGTGGAGACTGGCATTCAGATTCGCTGGCCCGCATGCTGAGAGTGCAGAG___ATACCAAATACTGCTGAAAGGATGCAAAGGATGATAGGATGAAAGAATGTCACAAAAAGCAGCTTTTCCACTTGATAAAAACAACTAAAACAGCAAAGCAAGTTTAAGTCCAAACACAATACTGCAGGGGTCCTTCACTGAGGATTGAATTTCAGACACAGAATACTCTTGATGACTTCAAGCCACTATGCTCCTTTGATTTGAGAAGCCACATTCCATCCCCCTCCAATTGTGATCAACACCTAGGGAGACCAATGCCCAGATGGACAAATAGCATTGACTGGCGTTAGCCCTGTTTCTCAATTCCCATCATGTAGAGAACAGGAGTCCGCAGCTGCTGGCAGGAGACAGCATGTCAGCCGGGACTCTGCCAGGGCAGAGTATGAGCAATGCCATGTTCTTGCTG)$ . 14BR005 ENSG00000138434.17(23896),ENSG00000213958.2(6578) ENSG00000150722.10 ./+ +/+ chr2:181954634 chr2:182061442 intergenic CDS/splice-site deletion/read-through 1 1 0 62 101 medium . . . . . . ENSG00000150722.10 . ENST00000409137.7 downstream upstream . GTGAAAAATGTACCGAGACCTTGGAGAGCCACGAACCAAGAAACTTCAGAAACCTCTGATATCTGATCAAGAGTTAAGAGACGTCAGAATCATCACAACTGACAAAAG|AAATAGATGACAAGAGGGGGCCCAACACACAAGGGGAA___TTACAGAATGCATCCCCTAAGCAAAGGAAGCAGAGTGTGTACACACCACCCACCATAAAAG___GTGCAAAATGAGTTGATAACAACC(AGAAGTTGACTTGTTAGTGCTGTGCTTCTACTCGAGCTTGGAAAAATCCCAACACAAAACAAACACCACCTCCGATTCCATCATGATGCCACGTTGCTTTCTACTGGATTACCTCCTGAAGCACTTTAGATATTTTATACATAAGTATTGACATGTTTTTCAGAAGCTGTTTCTTCACTTATTGCTTTTTTCTAATAATTTTTATTACACCATTTGCCAAGTCCTTCCCTTTGGTTTTAGTTTATTCCTCTCTACAACTAAAAAAGGGATCTTGAGTTTAGGTACATTTTAAGTGATTCATTTTTAGTTTTTCTAATTCTGGAATCTGAGCCTTCTCTTACAACAGGGAGTCTTTCAAAAACATTTTTTTGTTTCTTTTTCAAATTCCACTGTGTTTATTTATTGCCTTGTTTCTTTTTCAAATTCCATTGGTCTTGATTTAATTTAGTTCCACAGATTTTACTGATAGTCTACTACCTGCCAACTACTGAATTATGCAGCAGACTTATAAAAATAAAAAGGCTATTTTATTGTTATTGCCATCCTGCTAGTAAAGATTTATTCAATTATTTATAATTAATTAAGTGGCTTCACCTATATTTCTGTTAATAATCACATTAATTATGTATGACAGGTAGGATTTATGTTATAGATAAGAAAACTAGAGTCCAAAGAAAATAAGTGTCCCCAAATGAACCAATAATCCAACAAACGCTTCCACTAACTAGCTTCTGACCTGTTTGAGTTGTGATAGATTTTAGAATAAAAAAGCCTATCCTCCTTAGGAGCCATAGACTTTTATTCTTTCTTATACTGTCTTATATATTGACTTAGAGCTAAACTTCCTCCAATTCAGACATAAAGCATAGGCAGATACTTTTGCTAATGAGGCTAAGCTGGGAAGAAAACCCTGAGTTCTACTTTAATTCTTGGGCATTGACTTCAAACTAAGATGACTTATAAGAAATAAAAGAAGTAAATTTGAAACTTTAATAAAAAAAGTACATGGTTCATTTAAAAATGTTTCCTATGTCTAAATCTATATTTTAAAAATAACCTTTATCATGTAAAATGAGAGAATTGCTGAGTTTATGACAATCTTAGGTATAACCTTTTCTTAAAGAACAAGGCATCAATCTTTAATTTGTTTCCCTTTCTTGATTTCTCATAAGTTGCAAAATAAAAATAAAAATAATTTCACAAATTGTTCATTATTATTATCCTCCCTACTTGCCCCAGGATTTAAGTACTAACTTTTACTTCCTACTCTTAGACTTTGTATTGCCAAAGAAATAAAATATGAAAAAGCATAATCACCCAGACCTACCTGCGGAATTGTGGATTATGCTGTAGATATTAGATCATTGAAAGGAACAATATACTACTTAATGAGGAGCCAAAGACAACATTCTACCTGCTGCTCCCTTCAAGCTGAGGAATGAGTTTAATTGACTTCAAAGTCCCATTATTCTCAAAAGTAGCAAAGGTACAACATGGCTTTGCATGAATCAAAGGAAGGGAACAACAAGAACTTAAAAAAATAGTTTGCAGATGGTTGAACATCTCTTTAATAATTAGAGAAGAATATCTTTTCTTTCTTTATTGTTTACAGATACCAACATTTTTCAAAGCCTTGCAGTAGATGAGTGAGTCTCCTGTTACATTTCTCCTGCAGCATATATTCTGTGGATGTGTTTTCCTAAGCAGACTAATTATATGTTGCTCTCTTCTTTTACCCTAATGAAACATAGATTTTTCTGTTTTGAATTTGTCACTTGTTTGTTACATTTGTCAAGTGTTTTAAATATTACATTGGTCCTTTATTTGCTTTTGAGAACACCCAATAGTTTAAAAATTAAAATGACATGAAGGTCAATTCTAAGACAGGAATGATACTACTAAATCCTGGACTTGCCTATGATAACAAGCTCGAGCTACACACTTTTATTGTCAGAATAAATGGAATATATAGGAAGGAGTTAATTGGAACTGGTTAGTACCTAAATAAGATTTTTCAAAGTAAGTTTTTTGTCGTATTGGCAGAACAGTGTTAAAAAATAGACATTGTCATCATAAACACCCACAACTATATCTGTAGAAGATAATTTAATGCAATATTCTGGGGAAAATACAGTTGCCAAAATTAATCTCCTTGTTTTCTTTCATTGTGCAATGTGGAGTTAAATTTTTTTTCTATTGAGCAGTGTGTGTGTGTGTTTGTGTCTATAATTTATATATGTGCTTGTATACATTTCTATATACACATGTATGTGTATGCAAAATATGTATATATACACATATATATAAAATGTACACTAAATATGTATATATGTATATTCATAAAATGTTTTGCTGTATGGAAATAAAAAAGAAGGTTTCTAAAGGAAAGATAGAGAAGAAA)$ . 14BR008 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 4 6 0 34 32 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream duplicates(8) GTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTG(GTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 14BR008 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 5 5 0 47 45 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(25),low_entropy(1),mismatches(2) GAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGC(CTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 14BR008 ENSG00000102575.13 ENSG00000144476.6 -/- +/+ chr19:11577594 chr2:236581500 5'UTR/splice-site CDS translocation 0 2 0 87 112 medium . . . . . ENSG00000102575.13 ENSG00000144476.6 ENST00000218758.9 ENST00000272928.4 upstream upstream duplicates(1) ^(GCCGGGGCTCACCTGGGTCAGCCCTGAGCCCTCGAGCAGGGCGGATCGGCCGCTGCCTGCTTAAAGCTGGGGCCGCCAGGAGTGCGATCGCCTGCGGATCTGCAGCTGGGCACCGGCCGCAACGCCCGCCCCGCGACGGCAG___GGACTGAAGGGACTCCTGAATGTCCGCGGGACGTGTCGCGGCGGCGCCCAGCACGG)AGGAGGCAGGCAGGGAG___GGAATAAAGGCTCAGGGACCGGCAGTTCTACTCTAGAGCCCACCAGCCTCTCAGAGCCTCCGGTGACTGGCCTGTGTCTCCCCCTG|TGCCTCCAGAGTCTCAGAGACGGAGTACTCTGCCTTGGAGCAGAGCACCAAATGATCTGCCCTGGAGAGGCTCTGGGACGGGTTTACTTGTTTTTGAACAGGGTGATGGGCCCTATGGTTTTCTAGAGCAAAGCAAAGTAGCTTCGGG(TCTTGATGCTTGAGTAGAGTGAAGAGGGGAGCACGTGCCCCCTGCATCCATTCTCTCTTTCTCTTGATGACGCAGCTGTCATTTGGCTGTGCGTGCTGACAGTTTTGCAACAGGCAGAGCTGTGTCGCACAGCAGTGCTGTGCGTCAGAGCCAGCTGAGGACAGGCTTGCCTGGACTTCTGTAAGATAGGATTTTCTGTGTTTCCTGAATTTTTTATATGGTGATTTGTATTTAAATTTTAAGACTTTATTTTCTCACTATTGGTGTACCTTATAAATGTATTTGAAAGTTAAATATATTTTAAATATTGTTTGGGAGGCATAGTGCTGACATATATTCAGAGTGTTGTAGTTTTAAGGTTAGCGTGACTTCAGTTTTGACTAAGGATGACACTAATTGTTAGCTGTTTTGAAATTATATATATATAAATATATATAAATATATAAATATATGCCAGTCTTGGCTGAAATGTTTTATTTACCATAGTTTTATATCTGTGTGGTGTTTTGTACCGGCACGGGATATGGAACGAAAACTGCTTTGTAATGCAGTTTGTGACATTAATAGTATTGTAAAGTTACATTTTAAAATAAACAAAAAACTGTTCTGGACTGCAAATCTGCACACACAACGAACAGTTGCATTTCAGAGAGTTCTCTCAATTTGTAAGTTATTTTTTTTTAATAAAGATTTTTGTTTCCTAAAAA)$ . 14BR014 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 21 21 0 46 52 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismatches(1) GACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCgTGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTG(CCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 14BR014 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 19 6 1 130 68 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCA)GGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAG...TTTCTTCCTAGTTTTTTCTAGTCAATTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATtTGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAAGCCTCTATAGCTTGGCCTGTCT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 14BR014 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 22 0 34 71 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(3),mismappers(3) GCAGCaGCaGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAAC(GACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 14BR014 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 9 8 2 54 37 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGT)GGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 14BR014 ENSG00000240205.3(27236),ENSG00000257781.1(10013) ENSG00000135111.16 ./- -/- chr12:115745249 chr12:114670971 intergenic 3'UTR deletion 1 3 0 5 178 medium . . . . . . ENSG00000135111.16 . ENST00000349155.7 upstream downstream duplicates(1) CTACTAAGTGTGTGATAATTTATCACTGAGAAATAGAAAACTTAATACAAATGTGTAGTTTTGGATGAGTTGATTAACATTTGGTCTCAGG|TTTTAAAAAAATAATAAAGAAGTGAGACTATTAGACAAAGTATTTATGTAATTATTTGATAACTCTTGTAAATAGGTGGAATATGAATGCTTGGAAAATTAAACTTTAATTTATTGACATTGTAC(ATAGCTCTGTGTAAATAGAATTGCAACTGTCAGGTTTTGTGTTCTTGTTTTCCTTTAGTTGGGTTTATTTCCAGGTCACAGAATTGCTGTTAACACTAGAAAACACACTTCCTGCACCAACACCAATACCCTTTCAAAAGAGTTGTCTGCAACATTTTTGTTTTCTTTTTTAATGTCCAAAAGTGGGGGAAAGTGCTATTTCCTATTTTCACCAAAATTGGGGAAGGAGTGCCACTTTCCAGCTCCACTTCAAATTCCTTAAAATATAACTGAGATTGCTGTGGGGAGGGAGGAGGGCAGAGGCTGCGGTTTGACTTTTTAATTTTTCTTTTGTTATTTGTATTTGCTAGTCTCTGATTTCCTCAAAACGAAGTGGAATTTACTACTGTTGTCAGTATCGGTGTTTTGAATTGGTGCCTGCCTATAGAGATATATTCACAGTTCAAAAGTCAGGTGCTGAGAGATGGTTTAAAGACAAATTCATGAAGGTATATTTTGTGTTATAGTTGTTGATGAGTTCTTTGGTTTTCTGTATTTTTCCCCCTCTCTTTAAAACATCACTGAAATTTCAATAAATTTTTATTGAAATGTC)$ . 14BR014 ENSG00000170881.5 ENSG00000147687.19 +/+ -/+ chr8:124475290 chr8:124534503 CDS/splice-site intron deletion/read-through/5'-5' 3 1 0 516 18 medium out-of-frame . TRC8_N-terminal_domain(100%)| . . ENSG00000170881.5 ENSG00000147687.19 ENST00000303545.4 . downstream upstream inconsistently_clipped(1) ^(AGAGACCTCCTGGGGAGCCGCCGCCGCCGCCCTCTCGGCCATCGCTGCCTCCGCCGCCTGCTCCACCTCGAGGGACGCGAGCGGGCGGCGGGGCTGGCCGTGAGAGAGACAGGAGAGGAAGGAGGGCAGGGGCGGAGTTGCCCGCCTTAGCCCCCGCCCCCGGCCGCGGCCCCGGGCCCTGCCCCGCGCGGCCCTGCCCGGCCCACCGAGCCCTGGTGTGGCAGCGGCTCATGGCGGCCGTGGGGCCCCCGCAGCAGCAGGTGC)GGATGGCCCATCAGCAGGTCTGGGCGGCGCTCGAAGTGGCGCTCCGGGTGCCCTGCCTTTACATCATCGACGCCATCTTCAACTCCTACCCGGATTCCAGCCAAAGCCGGTTCTGCATCGTGCTCCAGATCTTCCTCCGGCTCTTTG|AGATGGGGTCTCACTTTGTTGCCCAGGCTGGTCTTGAACTCCCGGGCTCAAGCAGTCCTCCCACCTTGGCCTCCCAAAcTGCTTGGATTACAGGCGTGAGGATTCACTTCTGACGTCAG___TTTCTCCACCAGATGGTGATGACAGTACAACTGGGAGCTTTGTGCCCTGTGTTCCTAGGCCAGTGCCAGGCCCACTTGAGGCGCTCACTAACTATGATATGAACGAATGAA MAAVGPPQQQVRMAHQQVWAALEVALRVPCLYIIDAIFNSYPDSSQSRFCIVLQIFLRLF|emgshfvaqaglelpgssspptlasqtawitgvrihf* 14BR014 ENSG00000170881.5 ENSG00000170873.18 +/+ -/+ chr8:124475290 chr8:124567647 CDS/splice-site intron deletion/read-through/5'-5' 1 2 0 516 38 medium out-of-frame . TRC8_N-terminal_domain(100%)| . . ENSG00000170881.5 ENSG00000170873.18 ENST00000303545.4 . downstream upstream . ^(AGAGACCTCCTGGGGAGCCGCCGCCGCCGCCCTCTCGGCCATCGCTGCCTCCGCCGCCTGCTCCACCTCGAGGGACGCGAGCGGGCGGCGGGGCTGGCCGTGAGAGAGACAGGAGAGGAAGGAGGGCAGGGGCGGAGTTGCCCGCCTTAGCCCCCGCCCCCGGCCGCGGCCCCGGGCCCTGCCCCGCGCGGCCCTGCCCGGCCCACCGAGCCCTGGTGTGGCAGCGGCTCATGGCGGCCGTGGGGCCCCCGCAGCAGCAGGTGCGGATGGCCCATCAGCAGGTCTGGGCGGCGCTCGAAGTGGCGCTCCGGGT)GCCCTGCCTTTACATCATCGACGCCATCTTCAACTCCTACCCGGATTCCAGCCAAAGCCGGTTCTGCATCGTGCTCCAGATCTTCCTCCGGCTCTTTG|CAACTTAGTAAAAGACAAGTAAGACAGGAGCTGGGGACCATGGAAGAAACATCCCATGTGCTTTATCGAAGTGCCAAGTTGGGACtACGGGCCGGGCTAGAAtGATCCATGGAAAAGTTCTGTGCTCAGGGGAACAACTCAAATTCAGACATTTTGCTAGGGCTAAGGGAAATGAGCTGGTACCTTCGAATCAGCTTCCAGAACGCCTGCAGTGCAAGTTCTCAATTACGG MAAVGPPQQQVRMAHQQVWAALEVALRVPCLYIIDAIFNSYPDSSQSRFCIVLQIFLRLF|at* 14BR014 ENSG00000278202.1 ENSG00000196756.13 +/+ -/- chr15:82420075 chr20:38421097 exon/splice-site exon/splice-site translocation 2 0 0 33 106 medium . . . . . ENSG00000278202.1 ENSG00000196756.13 ENST00000613086.1 ENST00000654008.1 downstream downstream . ^(CAGAGAACAGTCTTCAGACCTAGAAAGGACTTGAGGAGTCCCAGAGAGGAGCCACATGGTGTGAACCATTCGATTCTCACAACAGAATGGATAAGAACAATTTCAACCATGAAACCGTGCAGATGTTCATATTTTGAATAGG___)GGCTGAAGCAGTGCCTACTCGATAGAATCAGTCATCATGCAAATAAAAGCCACCTGAGTCAAAGGCAAAGCCAGAGTGCAGCTTGGAGCAAAGAAG|TCTCAGCCTTAGATCCAAGGACAGTCCAAGGAAGTCCTAAGACCATGGAGTTGGTGATCTGGGATCTGGGTTTGCTGATATTTCTCACCGTG___AATCTCTTG(GTGGTGTTTGTGGGCACGAGAGGGGCAGAGAATGGAGAGTGAGGCTACCACATGAAGCGTCACCAGAGCTGCTCCCTGCTGCCTGCTCAGAGCACCCCGGATCCACTGTTCAATCTGCACAAGATTCGGGGTCCAGACATGGGAGACTTCAGCTGCCTCAGAGGACCGTGGACAGGGAAGGCCAGCCTCGCATCCCTCTGTCCATGCCTGGAATGACTTTAATAACCAAGAGTTTTATTTTTGAATTTGTAGCTGTCGTTCACTTTTTACCCACCCATTCAATAAACCTTACAGAATTGCTCCATGTGCTTCTTAAATCAGTGACAACCTGTGAGCCTGCCAGGCTGGCTTTGGAGAAG___AGGGAGGAATCTACACATGTCCCAGGGGCCATGGTGAAAAGGT)$ . 14BR014 ENSG00000008710.20 ENSG00000226232.8 -/- -/- chr16:2097728 chr16:69990682 CDS/splice-site intron duplication 0 2 0 35 41 medium out-of-frame . Lectin_C-type_domain(100%),Leucine_rich_repeat(100%),PKD_domain(100%),PLAT/LH2_domain(100%),REJ_domain(100%),WSC_domain(100%)| . . ENSG00000008710.20 ENSG00000226232.8 ENST00000262304.9 ENST00000532298.5 upstream downstream . ^(GCACTGCAGCGCCAGCGTCCGAGCGGGCGGCCGAGCTCCCGGAGCGGCCTGGCCCCGAGCCCCGAGCGGGCGTCGCTCAGCAGCAGGTCGCGGCCGCAGCCCCATCCAGCCCCGCGCCCGCCATGCCGTCCGCGGGCCCCGCCTGAGCTGCGGCCTCCGCGCGCGGGCGGGCCTGGGGACGGCGGGGCCATGCGCGCGCTGCCCTAACGATGCCGCCCGCCGCGCCCGCCCGCCTGGCGCTGGCCCTGGGCCTGGGCCTGTGGCTCGGGGCGCTGGCGGGGGGCCCCGGGCGCGGCTGCGGGCCCTGCGAGCCCCCCTGCCTCTGCGGCCCAGCGCCCGGCGCCGCCTGCCGCGTCAACTGCTCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCT___AGACGTCTCCCACAACCTGCTCCGGGCGCTGGACGTTGGGCTCCTGGCGAACCTCTCGGCGCTGGCAGAGCT___GGATATAAGCAACAACAAGATTTCTACGTTAGAAGAAGGAATATTTGCTAATTTATTTAATTTAAGTGAAAT___AAACCTGAGTGGGAACCCGTTTGAGTGTGACTGTGGCCTGGCGTGGCTGCCGCGATGGGCGGAGGAGCAGCAGGTGCGGGTGGTGCAGCCCGAGGCAGCCACGTGTGCTGGGCCTGGCTCCCTGGCTGGCCAGCCTCTGCTTGGCATCCCCTTGCTGGACAGTGGCTGTG___GTGAGGAGTATGTCGCCTGCCTCCCTGACAACAGCTCAGGCACCGTGGCAGCAGTGTCCTTTTCAGCTGCCCACGAAGGCCTGCTTCAGCCAGAGGCCTGCAGCGCCTTCTGCTTCTCCACCGGCCAGGGCCTCGCAGCCCTCTCGGAGCAGGGCTGGTGCCTGTGTGGGGCGGCCCAGCCCTCCAGTGCCTCCTTTGCCTGCCTGTCCCTCTGCTCCGGCCCCCCGCCACCTCCTGCCCCCACCTGTAGGGGCCCCACCCTCCTCCAGCACGTCTTCCCTGCCTCCCCAGGGGCCACCCTGGTGGGGCCCCACGGACCTCTGGCCTCTGGCCAGCTAGCAGCCTTCCACATCGCTGCCCCGCTCCCTGTCACTGCCACACGCTGGGACTTCGGAGACGGCTCCGCCGAGGTGGATGCCGCTGGGCCGGCTGCCTCGCATCGCTATGTGCTGCCTGGGCGCTATCACGTGACGGCCGTGCTGGCCCTGGGGGCCGGCTCAGCCCTGCTGGGGACAGACGTGCAGGTGGAAGCGGCACCTGCCGCCCTGGAGCTCGTGTGCCCGTCCTCGGTGCAGAGTGACGAGAGCCTCGACCTCAGCATCCAGAACCGCGGTGGTTCAGGCCTGGAGGCCGCCTACAGCATCGTGGCCCTGGGCGAGGAGCCGGCCCGAG___CGGTGCACCCGCTCTGCCCCTCGGACACGGAGATCTTCCCTGGCAACGGGCACTGCTACCGCCTGGTGGTGGAGAAGGCGGCCTGGCTGCAGGCGCAGGAGCAGTGTCAGGCCTGGGCCGGGGCCGCCCTGGCAATGGTGGACAGTCCCGCCGTGCAGCGCTTCCTGGTCTCCCGGGTCACCAG___GAGCCTAGACGTGTGGATCGGCTTCTCGACTGTGCAGGGGGTGGAGGTGGGCCCAGCGCCGCAGGGCGAGGCCTTCAGCCTGGAGAGCTGCCAGAACTGGCTGCCCGGGGAGCCACACCCAGCCACAGCCGAGCACTGCGTCCGGCTCGGGCCCACCGGGTGGTGTAACACCGACCTGTGCTCAGCGCCGCACAGCTACGTCTGCGAGCTGCAGCCCGGAG___GCCCAGTGCAGGATGCCGAGAACCTCCTCGTGGGAGCGCCCAGTGGGGACCTGCAGGGACCCCTGACGCCTCTGGCACAGCAGGACGGCCTCTCAGCCCCGCACGAGCCCGTGGAG___GTCATGGTATTCCCGGGCCTGCGTCTGAGCCGTGAAGCCTTCCTCACCACGGCCGAATTTGGGACCCAGGAGCTCCGGCGGCCCGCCCAGCTGCGGCTGCAGGTGTACCGGCTCCTCAGCACAGCAG___GGACCCCGGAGAACGGCAGCGAGCCTGAGAGCAGGTCCCCGGACAACAGGACCCAGCTGGCCCCCGCGTGCATGCCAGGGGGACGCTGGTGCCCTGGAGCCAACATCTGCTTGCCGCTGGACGCCTCCTGCCACCCCCAGGCCTGCGCCAATGGCTGCACGTCAGGGCCAGGGCTACCCGGGGCCCCCTATGCGCTATGGAGAGAGTTCCTCTTCTCCGTTCCCGCGGGGCCCCCCGCGCAGTACTCG___GTCACCCTCCACGGCCAGGATGTCCTCATGCTCCCTGGTGACCTCGTTGGCTTGCAGCACGACGCTGGCCCTGGCGCCCTCCTGCACTGCTCGCCGGCTCCCGGCCACCCTGGTCCCCGGGCCCCGTACCTCTCCGCCAACGCCTCGTCATGGCTGCCCCACTTGCCAGCCCAGCTGGAGGGCACTTGGGCCTGCCCTGCCTGTGCCCTGCGGCTGCTTGCAGCCACGGAACAGCTCACCGTGCTGCTGGGCTTGAGGCCCAACCCTGGACTGCGGCTGCCTGGGCGCTATGAGGTCCGGGCAGAGGTGGGCAATGGCGTGTCCAGGCACAACCTCTCCTGCAGCTTTGACGTGGTCTCCCCAGTGGCTGGGCTGCGGGTCATCTACCCTGCCCCCCGCGACGGCCGCCTCTACGTGCCCACCAACGGCTCAGCCTTGGTGCTCCAGGTGGACTCTGGTGCCAACGCCACGGCCACGGCTCGCTGGCCTGGGGGCAGTGTCAGCGCCCGCTTTGAGAATGTCTGCCCTGCCCTGGTGGCCACCTTCGTGCCCGGCTGCCCCTGGGAGACCAACGATACCCTGTTCTCAGTGGTAGCACTGCCGTGGCTCAGTGAGGGGGAGCACGTGGTGGACGTGGTGGTGGAAAACAGCGCCAGCCGGGCCAACCTCAGCCTGCGGGTGACGGCGGAGGAGCCCATCTGTGGCCTCCGCGCCACGCCCAGCCCCGAGGCCCGTGTACTGCAGGGAGTCCTAGTG___AGGTACAGCCCCGTGGTGGAGGCCGGCTCGGACATGGTCTTCCGGTGGACCATCAACGACAAGCAGTCCCTGACCTTCCAGAACGTGGTCTTCAATGTCATTTATCAGAGCGCGGCGGTCTTCAAGCTCTCA___CTGACGGCCTCCAACCACGTGAGCAACGTCACCGTGAACTACAACGTAACCGTGGAGCGGATGAACAGGATGCAGGGTCTGCAGGTCTCCACAGTGCCGGCCGTGCTGTCCCCCAATGCCACGCTAGCACTGACGGCGGGCGTGCTGGTGGACTCGGCCGTGGAGGTGGCCTTCCT___GTGGACCTTTGGGGATGGGGAGCAGGCCCTCCACCAGTTCCAGCCTCCGTACAACGAGTCCTTCCCGGTTCCAGACCCCTCGGTGGCCCAGGTGCTGGTGGAGCACAATGTCATGCACACCTACGCTGCCCCAG___GTGAGTACCTCCTGACCGTGCTGGCATCTAATGCCTTCGAGAACCTGACGCAGCAGGTGCCTGTGAGCGTGCGCGCCTCCCTGCCCTCCGTGGCTGTGGGTGTGAGTGACGGCGTCCTGGTGGCCGGCCGGCCCGTCACCTTCTACCCGCACCCGCTGCCCTCGCCTGGGGGTGTTCTTTACACGTGGGACTTCGGGGACGGCTCCCCTGTCCTGACCCAGAGCCAGCCGGCTGCCAACCACACCTATGCCTCGAGGGGCACCTACCACGTGCGCCTGGAGGTCAACAACACGGTGAGCGGTGCGGCGGCCCAGGCGGATGTGCGCGTCTTTGAGGAGCTCCGCGGACTCAGCGTGGACATGAGCCTGGCCGTGGAGCAGGGCGCCCCCGTGGTGGTCAGCGCCGCGGTGCAGACGGGCGACAACATCACGTGGACCTTCGACATGGGGGACGGCACCGTGCTGTCGGGCCCGGAGGCAACAGTGGAGCATGTGTACCTGCGGGCACAGAACTGCACAGTGACCGTGGGTGCGGCCAGCCCCGCCGGCCACCTGGCCCGGAGCCTGCACGTGCTGGTCTTCGTCCTGGAGGTGCTGCGCGTTGAACCCGCCGCCTGCATCCCCACGCAGCCTGACGCGCGGCTCACGGCCTACGTCACCGGGAACCCGGCCCACTACCTCTTCGACTGGACCTTCGGGGATGGCTCCTCCAACACGACCGTGCGGGGGTGCCCGACGGTGACACACAACTTCACGCGGAGCGGCACGTTCCCCCTGGCGCTGGTGCTGTCCAGCCGCGTGAACAGGGCGCATTACTTCACCAGCATCTGCGTGGAGCCAGAGGTGGGCAACGTCACCCTGCAGCCAGAGAGGCAGTTTGTGCAGCTCGGGGACGAGGCCTGGCTGGTGGCATGTGCCTGGCCCCCGTTCCCCTACCGCTACACCTGGGACTTTGGCACCGAGGAAGCCGCCCCCACCCGTGCCAGGGGCCCTGAGGTGACGTTCATCTACCGAGACCCAGGCTCCTATCTTGTGACAGTCACCGCGTCCAACAACATCTCTGCTGCCAATGACTCAGCCCTGGTGGAGGTGCAGGAGCCCGTGCTGGTCACCAGCATCAAGGTCAATGGCTCCCTTGGGCTGGAGCTGCAGCAGCCGTACCTGTTCTCTGCTGTGGGCCGTGGGCGCCCCGCCAGCTACCTGTGGGATCTGGGGGACGGTGGGTGGCTCGAGGGTCCGGAGGTCACCCACGCTTACAACAGCACAGGTGACTTCACCGTTAGGGTGGCCGGCTGGAATGAGGTGAGCCGCAGCGAGGCCTGGCTCAATGTGACGGTGAAGCGGCGCGTGCGGGGGCTCGTCGTCAATGCAAGCCGCACGGTGGTGCCCCTGAATGGGAGCGTGAGCTTCAGCACGTCGCTGGAGGCCGGCAGTGATGTGCGCTATTCCTGGGTGCTCTGTGACCGCTGCACGCCCATCCCTGGGGGTCCTACCATCTCTTACACCTTCCGCTCCGTGGGCACCTTCAATATCATCGTCACGGCTGAGAACGAGGTGGGCTCCGCCCAGGACAGCATCTTCGTCTATGTCCTGCAGCTCATAGAGGGGCTGCAGGTGGTGGGCGGTGGCCGCTACTTCCCCACCAACCACACGGTACAGCTGCAGGCCGTGGTTAGGGATGGCACCAACGTCTCCTACAGCTGGACTGCCTGGAGGGACAGGGGCCCGGCCCTGGCCGGCAGCGGCAAAGGCTTCTCGCTCACCGTGCTCGAGGCCGGCACCTACCATGTGCAGCTGCGGGCCACCAACATGCTGGGCAGCGCCTGGGCCGACTGCACCATGGACTTCGTGGAGCCTGTGGGGTGGCTGATGGTGGCCGCCTCCCCGAACCCAGCTGCCGTCAACACAAGCGTCACCCTCAGTGCCGAGCTGGCTGGTGGCAGTGGTGTCGTATACACTTGGTCCTTGGAGGAGGGGCTGAGCTGGGAGACCTCCGAGCCATTTACCACCCATAGCTTCCCCACACCCGGCCTGCACTTGGTCACCATGACGGCAGGGAACCCGCTGGGCTCAGCCAACGCCACCGTGGAAGTGGATGTGCAGGTGCCTGTGAGTGGCCTCAGCATCAGGGCCAGCGAGCCCGGAGGCAGCTTCGTGGCGGCCGGGTCCTCTGTGCCCTTTTGGGGGCAGCTGGCCACGGGCACCAATGTGAGCTGGTGCTGGGCTGTGCCCGGCGGCAGCAGCAAGCGTGGCCCTCATGTCACCATGGTCTTCCCGGATGCTGGCACCTTCTCCATCCGGCTCAATGCCTCCAACGCAGTCAGCTGGGTCTCAGCCACGTACAACCTCACGGCGGAGGAGCCCATCGTGGGCCTGGTGCTGTGGGCCAGCAGCAAGGTGGTGGCGCCCGGGCAGCTGGTCCATTTTCAGATCCTGCTGGCTGCCGGCTCAGCTGTCACCTTCCGCCTGCAGGTCGGCGGGGCCAACCCCGAGGTGCTCCCCGGGCCCCGTTTCTCCCACAGCTTCCCCCGCGTCGGAGACCACGTGGTGAGCGTGCGGGGCAAAAACCACGTGAGCTGGGCCCAGGCGCAGGTGCGCATCGTGGTGCTGGAGGCCGTGAGTGGGCTGCAGGTGCCCAACTGCTGCGAGCCTGGCATCGCCACGGGCACTGAGAGGAACTTCACAGCCCGCGTGCAGCGCGGCTCTCGGGTCGCCTACGCCTGGTACTTCTCGCTGCAGAAGGTCCAGGGCGACTCGCTGGTCATCCTGTCGGGCCGCGACGTCACCTACACGCCCGTGGCCGCGGGGCTGTTGGAGATCCAGGTGCGCGCCTTCAACGCCCTGGGCAGTGAGAACCGCACGCTGGTGCTGGAGGTTCAGGACGCCGTCCAGTATGTGGCCCTGCAGAGCGGCCCCTGCTTCACCAACCGCTCGGCGCAGTTTGAGGCCGCCACCAGCCCCAGCCCCCGGCGTGTGGCCTACCACTGGGACTTTGGGGATGGGTCGCCAGGGCAGGACACAGATGAGCCCAGGGCCGAGCACTCCTACCTGAGGCCTGGGGACTACCGCGTGCAGGTGAACGCCTCCAACCTGGTGAGCTTCTTCGTGGCGCAGGCCACGGTGACCGTCCAGGTGCTGGCCTGCCGGGAGCCGGAGGTGGACGTGGTCCTGCCCCTGCAGGTGCTGATGCGGCGATCACAGCGCAACTACTTGGAGGCCCACGTTGACCTGCGCGACTGCGTCACCTACCAGACTGAGTACCGCTGGGAGGTGTATCGCACCGCCAGCTGCCAGCGGCCGGGGCGCCCAGCGCGTGTGGCCCTGCCCGGCGTGGACGTGAGCCGGCCTCGGCTGGTGCTGCCGCGGCTGGCGCTGCCTGTGGGGCACTACTGCTTTGTGTTTGTCGTGTCATTTGGGGACACGCCACTGACACAGAGCATCCAGGCCAATGTGACGGTGGCCCCCGAGCGCCTGGTGCCCATCATTGAGGGTGGCTCATACCGCGTGTGGTCAGACACACGGGACCTGGTGCTGGATGGGAGCGAGTCCTACGACCCCAACCTGGAGGACGGCGACCAGACGCCGCTCAGTTTCCACTGGGCCTGTGTGGCTTCGACACAG___AGGGAGGCTGGCGGGTGTGCGCTGAACTTTGGGCCCCGCGGGAGCAGCACGGTCACCATTCCACGGGAGCGGCTGGCGGCTGGCGTGGAGTACACCTTCAGCCTGACCGTGTGGAAGGCCGGCCGCAAGGAGGAGGCCACCAACCAGACG___GTGCTGATCCGGAGTGGCCGGGTGCCCATTGTGTCCTTGGAGTGTGTGTCCTGCAAGGCACAGGCCGTGTACGAAGTGAGCCGCAGCTCCTACGTGTACTTGGAGGGCCGCTGCCTCAATTGCAGCAGCGGCTCCAAGCGAGGG___CGGTGGGCTGCACGTACGTTCAGCAACAAGACGCTGGTGCTGGATGAGACCACCACATCCACGGGCAGTGCAGGCATGCGACTGGTGCTGCGGCGGGGCGTGCTGCGGGACGGCGAGGGATACACCTTCACGCTCACGGTGCTGGGCCGCTCTGGCGAGGAGGAGGGCTGCGCCTCCATCCGCCTGTCCCCCAACCGCCCGCCGCTGGGGGGCTCTTGCCGCCTCTTCCCACTGGGCGCTGTGCACGCCCTCACCACCAAGGTGCACTTCGAATGCACGG___GCTGGCATGACGCGGAGGATGCTGGCGCCCCGCTGGTGTACGCCCTGCTGCTGCGGCGCTGTCGCCAGGGCCACTGCGAGGAGTTCTGTGTCTACAAGGGCAGCCTCTCCAGCTACGGAGCCGTGCTGCCCCCGGGTTTCAGGCCACACTTCGAGGTGGGCCTGGCCGTGGTGGTGCAGGACCAGCTGGGAGCCGCTGTGGTCGCCCTCAACAG___GTCTTTGGCCATCACCCTCCCAGAGCCCAACGGCAGCGCAACGGGGCTCACAGTCTGGCTGCACGGGCTCACCGCTAGTGTGCTCCCAGGGCTGCTGCGGCAGGCCGATCCCCAGCACGTCATCGAGTACTCGTTGGCCCTGGTCACCGTGCTGAACGAG___TACGAGCGGGCCCTGGACGTGGCGGCAGAGCCCAAGCACGAGCGGCAGCACCGAGCCCAGATACGCAAGAACATCACGGAGACTCTGGTGTCCCTGAGGGTCCACACTGTGGATGACATCCAGCAGATCGCTGCTGCGCTGGCCCAGTGCATG___GGGCCCAGCAGGGAGCTCGTATGCCGCTCGTGCCTGAAGCAGACGCTGCACAAGCTGGAGGCCATGATGCTCATCCTGCAGGCAGAGACCACCGCGGGCACCGTGACGCCCACCGCCATCGGAGACAGCATCCTCAACATCACAG___GAGACCTCATCCACCTGGCCAGCTCGGACGTGCGGGCACCACAGCCCTCAGAGCTGGGAGCCGAGTCACCATCTCGGATGGTGGCGTCCCAGGCCTACAACCTGACCTCTGCCCTCATGCGCATCCTCATGCGCTCCCGCGTGCTCAACGAGGAGCCCCTGACGCTGGCGGGCGAGGAGATCGTGGCCCAGGGCAAGCGCTCGGACCCGCGGAGCCTGCTGTGCTATGGCGGCGCCCCAGGGCCTGGCTGCCACTTCTCCATCCCCGAGGCTTTCAGCGGGGCCCTGGCCAACCTCAGTGACGTGGTGCAGCTCATCTTTCTGGTGGACTCCAATCCCTTTCCCTTTGGCTATATCAGCAACTACACCGTCTCCACCAAGGTGGCCTCGATGGCATTCCAGACACAGGCCGGCGCCCAGATCCCCATCGAGCGGCTGGCCTCAGAGCGCGCCATCACCGTGAAGGTGCCCAACAACTCGGACTGGGCTGCCCGGGGCCACCGCAGCTCCGCCAACTCCGCCAACTCCGTTGTGGTCCAGCCCCAGGCCTCCGTCGGTGCTGTGGTCACCCTGGACAGCAGCAACCCTGCGGCCGGGCTGCATCTGCAGCTCAACTATACGCTGCTGGACG___GCCACTACCTGTCTGAGGAACCTGAGCCCTACCTGGCAGTCTACCTACACTCGGAGCCCCGGCCCAATGAGCACAACTGCTCGGCTAGCAGGAGGATCCGCCCAGAGTCACTCCAGGGTGCTGACCACCGGCCCTACACCTTCTTCATTTCCCCGGG___GAGCAGAGACCCAGCGGGGAGTTACCATCTGAACCTCTCCAGCCACTTCCGCTGGTCGGCGCTGCAGGTGTCCGTGGGCCTGTACACGTCCCTGTGCCAGTACTTCAGCGAGGAGGACATGGTGTGGCGGACAGAGGGGCTGCTGCCCCTGGAGGAGACCTCGCCCCGCCAGGCCGTCTGCCTCACCCGCCACCTCACCGCCTTCGGCGCCAGCCTCTTCGTGCCCCCAAGCCATGTCCGCTTTGTGTTTCCT___GAGCCGACAGCGGATGTAAACTACATCGTCATGCTGACATGTGCTGTGTGCCTGGTGACCTACATGGTCATGGCCGCCATCCTGCACAAGCTGGACCAGTTGGATGCCAGCCGGGGCCGCGCCATCCCTTTCTGTGGGCAGCGGGGCCGCTTCAAGTACGAGATCCTCGTCAAGACAGGCTGGGGCCGGGGCTCAG___GTACCACGGCCCACGTGGGCATCATGCTGTATGGGGTGGACAGCCGGAGCGGCCACCGGCACCTGGACGGCGACAGAGCCTTCCACCGCAACAGCCTGGACATCTTCCGGATCGCCACCCCGCACAGCCTGGGTAGCGTGTGGAAGATCCGAGTGTGGCACGACAACAAAG___GGCTCAGCCCTGCCTGGTTCCTGCAGCACGTCATCGTCAGGGACCTGCAGACGGCACGCAGCGCCTTCTTCCTGGTCAATGACTGGCTTTCGGTGGAGACGGAGGCCAACGGGGGCCTGGTGGAGAAGGAGGTGCTGGCCGCGA___GCGACGCAGCCCTTTTGCGCTTCCGGCGCCTGCTGGTGGCTGAGCTGCAGCGTGGCTTCTTTGACAAGCACATCTGGCTCTCCATATGGGACCGGCCGCCTCGTAGCCGTTTCACTCGCATCCAGAGGGCCACCTGCTGCGTTCTCCTCATCTGCCTCTTCCTGGGCGCCAACGCCGTGTGGTACGGGGCTGTTGGCGACTCTGCCTACAG___CACGGGGCATGTGTCCAGGCTGAGCCCGCTGAGCGTCGACACAGTCGCTGTTGGCCTGGTGTCCAGCGTGGTTGTCTATCCCGTCTACCTGGCCATCCTTTTTCTCTTCCGGATGTCCCGGAGCAAG___GTGGCTGGGAGCCCGAGCCCCACACCTGCCGGGCAGCAGGTGCTGGACATCGACAGCTGCCTGGACTCGTCCGTGCTGGACAGCTCCTTCCTCACGTTCTCAGGCCTCCACGCTGAG___CAGGCCTTTGTTGGACAGATGAAGA)GTGACTTGTTTCTGGATGATTCTAAGAG|TGACCTTGAGGAACCCTGGGAGCTCAGGAAGGAAGGAGCGCCCAGAAGCAGGGACAGGGAGCTGGTTGGGGAGGACCAGAAATCAG___GTTATCAATACTCTGGCTGACCATCGTCATCG(TGAGACTGACTTTGGTGGAAGTCCTTGGATAATTATCATTATTGTGTTTCTGGGACGTTACAAATTTACCATTCTCTTCTGCACAATTTACCTTTGT___GTGCCTTTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATAGATCCAGGGATGTACAGCAGAGAGCTAGGAGGTCCAACCGCCGTAGACAGGAAG___GGCTGAGGTCCATTTGTATGCACACAAAGAAAAGAGTTTCTTCCTTTCCAGGAATTAAAATTGGCCTGGAAGACATCTGTACTTTATGGAAACAGGCGGAAACAAAAGTTCAAGCTAAAATCCGTAAGATGAAGGTCACAAAGAAAGTCAACCATCATTACAAAATCAATGGAAAGAGGAAGACCGCCAAAGAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGTGGCGGGCAGAGGACTACCACAAATGCAAA___ATCACCCCCTCTGCAAGAAAGCCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCGCCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAATGTCTTCTTATTCCCCTTCCACCCTCTCCTCTTCCACCCTCCGTGGATGATAATCTCAAGACTCCTCCCTTAGCTACTCAGGAGGCCGAGGCAGAAAAATCACTGAAACCCAAGAGGCAGAGGTTGAGTAAGCTGAGAACAGGTCATTGCACTCAAGCCTGGGCAATAAGAAGAAATCTGTGA)$ MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKs|dleepwelrkegaprsrdrelvgedqksgyqysg* 14BR014 ENSG00000008710.20 ENSG00000196696.13 -/- -/- chr16:2097728 chr16:69990682 CDS/splice-site exon/splice-site duplication 0 2 0 35 41 medium out-of-frame . Lectin_C-type_domain(100%),Leucine_rich_repeat(100%),PKD_domain(100%),PLAT/LH2_domain(100%),REJ_domain(100%),WSC_domain(100%)| . . ENSG00000008710.20 ENSG00000196696.13 ENST00000262304.9 ENST00000530079.5 upstream downstream . ^(GCACTGCAGCGCCAGCGTCCGAGCGGGCGGCCGAGCTCCCGGAGCGGCCTGGCCCCGAGCCCCGAGCGGGCGTCGCTCAGCAGCAGGTCGCGGCCGCAGCCCCATCCAGCCCCGCGCCCGCCATGCCGTCCGCGGGCCCCGCCTGAGCTGCGGCCTCCGCGCGCGGGCGGGCCTGGGGACGGCGGGGCCATGCGCGCGCTGCCCTAACGATGCCGCCCGCCGCGCCCGCCCGCCTGGCGCTGGCCCTGGGCCTGGGCCTGTGGCTCGGGGCGCTGGCGGGGGGCCCCGGGCGCGGCTGCGGGCCCTGCGAGCCCCCCTGCCTCTGCGGCCCAGCGCCCGGCGCCGCCTGCCGCGTCAACTGCTCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCT___AGACGTCTCCCACAACCTGCTCCGGGCGCTGGACGTTGGGCTCCTGGCGAACCTCTCGGCGCTGGCAGAGCT___GGATATAAGCAACAACAAGATTTCTACGTTAGAAGAAGGAATATTTGCTAATTTATTTAATTTAAGTGAAAT___AAACCTGAGTGGGAACCCGTTTGAGTGTGACTGTGGCCTGGCGTGGCTGCCGCGATGGGCGGAGGAGCAGCAGGTGCGGGTGGTGCAGCCCGAGGCAGCCACGTGTGCTGGGCCTGGCTCCCTGGCTGGCCAGCCTCTGCTTGGCATCCCCTTGCTGGACAGTGGCTGTG___GTGAGGAGTATGTCGCCTGCCTCCCTGACAACAGCTCAGGCACCGTGGCAGCAGTGTCCTTTTCAGCTGCCCACGAAGGCCTGCTTCAGCCAGAGGCCTGCAGCGCCTTCTGCTTCTCCACCGGCCAGGGCCTCGCAGCCCTCTCGGAGCAGGGCTGGTGCCTGTGTGGGGCGGCCCAGCCCTCCAGTGCCTCCTTTGCCTGCCTGTCCCTCTGCTCCGGCCCCCCGCCACCTCCTGCCCCCACCTGTAGGGGCCCCACCCTCCTCCAGCACGTCTTCCCTGCCTCCCCAGGGGCCACCCTGGTGGGGCCCCACGGACCTCTGGCCTCTGGCCAGCTAGCAGCCTTCCACATCGCTGCCCCGCTCCCTGTCACTGCCACACGCTGGGACTTCGGAGACGGCTCCGCCGAGGTGGATGCCGCTGGGCCGGCTGCCTCGCATCGCTATGTGCTGCCTGGGCGCTATCACGTGACGGCCGTGCTGGCCCTGGGGGCCGGCTCAGCCCTGCTGGGGACAGACGTGCAGGTGGAAGCGGCACCTGCCGCCCTGGAGCTCGTGTGCCCGTCCTCGGTGCAGAGTGACGAGAGCCTCGACCTCAGCATCCAGAACCGCGGTGGTTCAGGCCTGGAGGCCGCCTACAGCATCGTGGCCCTGGGCGAGGAGCCGGCCCGAG___CGGTGCACCCGCTCTGCCCCTCGGACACGGAGATCTTCCCTGGCAACGGGCACTGCTACCGCCTGGTGGTGGAGAAGGCGGCCTGGCTGCAGGCGCAGGAGCAGTGTCAGGCCTGGGCCGGGGCCGCCCTGGCAATGGTGGACAGTCCCGCCGTGCAGCGCTTCCTGGTCTCCCGGGTCACCAG___GAGCCTAGACGTGTGGATCGGCTTCTCGACTGTGCAGGGGGTGGAGGTGGGCCCAGCGCCGCAGGGCGAGGCCTTCAGCCTGGAGAGCTGCCAGAACTGGCTGCCCGGGGAGCCACACCCAGCCACAGCCGAGCACTGCGTCCGGCTCGGGCCCACCGGGTGGTGTAACACCGACCTGTGCTCAGCGCCGCACAGCTACGTCTGCGAGCTGCAGCCCGGAG___GCCCAGTGCAGGATGCCGAGAACCTCCTCGTGGGAGCGCCCAGTGGGGACCTGCAGGGACCCCTGACGCCTCTGGCACAGCAGGACGGCCTCTCAGCCCCGCACGAGCCCGTGGAG___GTCATGGTATTCCCGGGCCTGCGTCTGAGCCGTGAAGCCTTCCTCACCACGGCCGAATTTGGGACCCAGGAGCTCCGGCGGCCCGCCCAGCTGCGGCTGCAGGTGTACCGGCTCCTCAGCACAGCAG___GGACCCCGGAGAACGGCAGCGAGCCTGAGAGCAGGTCCCCGGACAACAGGACCCAGCTGGCCCCCGCGTGCATGCCAGGGGGACGCTGGTGCCCTGGAGCCAACATCTGCTTGCCGCTGGACGCCTCCTGCCACCCCCAGGCCTGCGCCAATGGCTGCACGTCAGGGCCAGGGCTACCCGGGGCCCCCTATGCGCTATGGAGAGAGTTCCTCTTCTCCGTTCCCGCGGGGCCCCCCGCGCAGTACTCG___GTCACCCTCCACGGCCAGGATGTCCTCATGCTCCCTGGTGACCTCGTTGGCTTGCAGCACGACGCTGGCCCTGGCGCCCTCCTGCACTGCTCGCCGGCTCCCGGCCACCCTGGTCCCCGGGCCCCGTACCTCTCCGCCAACGCCTCGTCATGGCTGCCCCACTTGCCAGCCCAGCTGGAGGGCACTTGGGCCTGCCCTGCCTGTGCCCTGCGGCTGCTTGCAGCCACGGAACAGCTCACCGTGCTGCTGGGCTTGAGGCCCAACCCTGGACTGCGGCTGCCTGGGCGCTATGAGGTCCGGGCAGAGGTGGGCAATGGCGTGTCCAGGCACAACCTCTCCTGCAGCTTTGACGTGGTCTCCCCAGTGGCTGGGCTGCGGGTCATCTACCCTGCCCCCCGCGACGGCCGCCTCTACGTGCCCACCAACGGCTCAGCCTTGGTGCTCCAGGTGGACTCTGGTGCCAACGCCACGGCCACGGCTCGCTGGCCTGGGGGCAGTGTCAGCGCCCGCTTTGAGAATGTCTGCCCTGCCCTGGTGGCCACCTTCGTGCCCGGCTGCCCCTGGGAGACCAACGATACCCTGTTCTCAGTGGTAGCACTGCCGTGGCTCAGTGAGGGGGAGCACGTGGTGGACGTGGTGGTGGAAAACAGCGCCAGCCGGGCCAACCTCAGCCTGCGGGTGACGGCGGAGGAGCCCATCTGTGGCCTCCGCGCCACGCCCAGCCCCGAGGCCCGTGTACTGCAGGGAGTCCTAGTG___AGGTACAGCCCCGTGGTGGAGGCCGGCTCGGACATGGTCTTCCGGTGGACCATCAACGACAAGCAGTCCCTGACCTTCCAGAACGTGGTCTTCAATGTCATTTATCAGAGCGCGGCGGTCTTCAAGCTCTCA___CTGACGGCCTCCAACCACGTGAGCAACGTCACCGTGAACTACAACGTAACCGTGGAGCGGATGAACAGGATGCAGGGTCTGCAGGTCTCCACAGTGCCGGCCGTGCTGTCCCCCAATGCCACGCTAGCACTGACGGCGGGCGTGCTGGTGGACTCGGCCGTGGAGGTGGCCTTCCT___GTGGACCTTTGGGGATGGGGAGCAGGCCCTCCACCAGTTCCAGCCTCCGTACAACGAGTCCTTCCCGGTTCCAGACCCCTCGGTGGCCCAGGTGCTGGTGGAGCACAATGTCATGCACACCTACGCTGCCCCAG___GTGAGTACCTCCTGACCGTGCTGGCATCTAATGCCTTCGAGAACCTGACGCAGCAGGTGCCTGTGAGCGTGCGCGCCTCCCTGCCCTCCGTGGCTGTGGGTGTGAGTGACGGCGTCCTGGTGGCCGGCCGGCCCGTCACCTTCTACCCGCACCCGCTGCCCTCGCCTGGGGGTGTTCTTTACACGTGGGACTTCGGGGACGGCTCCCCTGTCCTGACCCAGAGCCAGCCGGCTGCCAACCACACCTATGCCTCGAGGGGCACCTACCACGTGCGCCTGGAGGTCAACAACACGGTGAGCGGTGCGGCGGCCCAGGCGGATGTGCGCGTCTTTGAGGAGCTCCGCGGACTCAGCGTGGACATGAGCCTGGCCGTGGAGCAGGGCGCCCCCGTGGTGGTCAGCGCCGCGGTGCAGACGGGCGACAACATCACGTGGACCTTCGACATGGGGGACGGCACCGTGCTGTCGGGCCCGGAGGCAACAGTGGAGCATGTGTACCTGCGGGCACAGAACTGCACAGTGACCGTGGGTGCGGCCAGCCCCGCCGGCCACCTGGCCCGGAGCCTGCACGTGCTGGTCTTCGTCCTGGAGGTGCTGCGCGTTGAACCCGCCGCCTGCATCCCCACGCAGCCTGACGCGCGGCTCACGGCCTACGTCACCGGGAACCCGGCCCACTACCTCTTCGACTGGACCTTCGGGGATGGCTCCTCCAACACGACCGTGCGGGGGTGCCCGACGGTGACACACAACTTCACGCGGAGCGGCACGTTCCCCCTGGCGCTGGTGCTGTCCAGCCGCGTGAACAGGGCGCATTACTTCACCAGCATCTGCGTGGAGCCAGAGGTGGGCAACGTCACCCTGCAGCCAGAGAGGCAGTTTGTGCAGCTCGGGGACGAGGCCTGGCTGGTGGCATGTGCCTGGCCCCCGTTCCCCTACCGCTACACCTGGGACTTTGGCACCGAGGAAGCCGCCCCCACCCGTGCCAGGGGCCCTGAGGTGACGTTCATCTACCGAGACCCAGGCTCCTATCTTGTGACAGTCACCGCGTCCAACAACATCTCTGCTGCCAATGACTCAGCCCTGGTGGAGGTGCAGGAGCCCGTGCTGGTCACCAGCATCAAGGTCAATGGCTCCCTTGGGCTGGAGCTGCAGCAGCCGTACCTGTTCTCTGCTGTGGGCCGTGGGCGCCCCGCCAGCTACCTGTGGGATCTGGGGGACGGTGGGTGGCTCGAGGGTCCGGAGGTCACCCACGCTTACAACAGCACAGGTGACTTCACCGTTAGGGTGGCCGGCTGGAATGAGGTGAGCCGCAGCGAGGCCTGGCTCAATGTGACGGTGAAGCGGCGCGTGCGGGGGCTCGTCGTCAATGCAAGCCGCACGGTGGTGCCCCTGAATGGGAGCGTGAGCTTCAGCACGTCGCTGGAGGCCGGCAGTGATGTGCGCTATTCCTGGGTGCTCTGTGACCGCTGCACGCCCATCCCTGGGGGTCCTACCATCTCTTACACCTTCCGCTCCGTGGGCACCTTCAATATCATCGTCACGGCTGAGAACGAGGTGGGCTCCGCCCAGGACAGCATCTTCGTCTATGTCCTGCAGCTCATAGAGGGGCTGCAGGTGGTGGGCGGTGGCCGCTACTTCCCCACCAACCACACGGTACAGCTGCAGGCCGTGGTTAGGGATGGCACCAACGTCTCCTACAGCTGGACTGCCTGGAGGGACAGGGGCCCGGCCCTGGCCGGCAGCGGCAAAGGCTTCTCGCTCACCGTGCTCGAGGCCGGCACCTACCATGTGCAGCTGCGGGCCACCAACATGCTGGGCAGCGCCTGGGCCGACTGCACCATGGACTTCGTGGAGCCTGTGGGGTGGCTGATGGTGGCCGCCTCCCCGAACCCAGCTGCCGTCAACACAAGCGTCACCCTCAGTGCCGAGCTGGCTGGTGGCAGTGGTGTCGTATACACTTGGTCCTTGGAGGAGGGGCTGAGCTGGGAGACCTCCGAGCCATTTACCACCCATAGCTTCCCCACACCCGGCCTGCACTTGGTCACCATGACGGCAGGGAACCCGCTGGGCTCAGCCAACGCCACCGTGGAAGTGGATGTGCAGGTGCCTGTGAGTGGCCTCAGCATCAGGGCCAGCGAGCCCGGAGGCAGCTTCGTGGCGGCCGGGTCCTCTGTGCCCTTTTGGGGGCAGCTGGCCACGGGCACCAATGTGAGCTGGTGCTGGGCTGTGCCCGGCGGCAGCAGCAAGCGTGGCCCTCATGTCACCATGGTCTTCCCGGATGCTGGCACCTTCTCCATCCGGCTCAATGCCTCCAACGCAGTCAGCTGGGTCTCAGCCACGTACAACCTCACGGCGGAGGAGCCCATCGTGGGCCTGGTGCTGTGGGCCAGCAGCAAGGTGGTGGCGCCCGGGCAGCTGGTCCATTTTCAGATCCTGCTGGCTGCCGGCTCAGCTGTCACCTTCCGCCTGCAGGTCGGCGGGGCCAACCCCGAGGTGCTCCCCGGGCCCCGTTTCTCCCACAGCTTCCCCCGCGTCGGAGACCACGTGGTGAGCGTGCGGGGCAAAAACCACGTGAGCTGGGCCCAGGCGCAGGTGCGCATCGTGGTGCTGGAGGCCGTGAGTGGGCTGCAGGTGCCCAACTGCTGCGAGCCTGGCATCGCCACGGGCACTGAGAGGAACTTCACAGCCCGCGTGCAGCGCGGCTCTCGGGTCGCCTACGCCTGGTACTTCTCGCTGCAGAAGGTCCAGGGCGACTCGCTGGTCATCCTGTCGGGCCGCGACGTCACCTACACGCCCGTGGCCGCGGGGCTGTTGGAGATCCAGGTGCGCGCCTTCAACGCCCTGGGCAGTGAGAACCGCACGCTGGTGCTGGAGGTTCAGGACGCCGTCCAGTATGTGGCCCTGCAGAGCGGCCCCTGCTTCACCAACCGCTCGGCGCAGTTTGAGGCCGCCACCAGCCCCAGCCCCCGGCGTGTGGCCTACCACTGGGACTTTGGGGATGGGTCGCCAGGGCAGGACACAGATGAGCCCAGGGCCGAGCACTCCTACCTGAGGCCTGGGGACTACCGCGTGCAGGTGAACGCCTCCAACCTGGTGAGCTTCTTCGTGGCGCAGGCCACGGTGACCGTCCAGGTGCTGGCCTGCCGGGAGCCGGAGGTGGACGTGGTCCTGCCCCTGCAGGTGCTGATGCGGCGATCACAGCGCAACTACTTGGAGGCCCACGTTGACCTGCGCGACTGCGTCACCTACCAGACTGAGTACCGCTGGGAGGTGTATCGCACCGCCAGCTGCCAGCGGCCGGGGCGCCCAGCGCGTGTGGCCCTGCCCGGCGTGGACGTGAGCCGGCCTCGGCTGGTGCTGCCGCGGCTGGCGCTGCCTGTGGGGCACTACTGCTTTGTGTTTGTCGTGTCATTTGGGGACACGCCACTGACACAGAGCATCCAGGCCAATGTGACGGTGGCCCCCGAGCGCCTGGTGCCCATCATTGAGGGTGGCTCATACCGCGTGTGGTCAGACACACGGGACCTGGTGCTGGATGGGAGCGAGTCCTACGACCCCAACCTGGAGGACGGCGACCAGACGCCGCTCAGTTTCCACTGGGCCTGTGTGGCTTCGACACAG___AGGGAGGCTGGCGGGTGTGCGCTGAACTTTGGGCCCCGCGGGAGCAGCACGGTCACCATTCCACGGGAGCGGCTGGCGGCTGGCGTGGAGTACACCTTCAGCCTGACCGTGTGGAAGGCCGGCCGCAAGGAGGAGGCCACCAACCAGACG___GTGCTGATCCGGAGTGGCCGGGTGCCCATTGTGTCCTTGGAGTGTGTGTCCTGCAAGGCACAGGCCGTGTACGAAGTGAGCCGCAGCTCCTACGTGTACTTGGAGGGCCGCTGCCTCAATTGCAGCAGCGGCTCCAAGCGAGGG___CGGTGGGCTGCACGTACGTTCAGCAACAAGACGCTGGTGCTGGATGAGACCACCACATCCACGGGCAGTGCAGGCATGCGACTGGTGCTGCGGCGGGGCGTGCTGCGGGACGGCGAGGGATACACCTTCACGCTCACGGTGCTGGGCCGCTCTGGCGAGGAGGAGGGCTGCGCCTCCATCCGCCTGTCCCCCAACCGCCCGCCGCTGGGGGGCTCTTGCCGCCTCTTCCCACTGGGCGCTGTGCACGCCCTCACCACCAAGGTGCACTTCGAATGCACGG___GCTGGCATGACGCGGAGGATGCTGGCGCCCCGCTGGTGTACGCCCTGCTGCTGCGGCGCTGTCGCCAGGGCCACTGCGAGGAGTTCTGTGTCTACAAGGGCAGCCTCTCCAGCTACGGAGCCGTGCTGCCCCCGGGTTTCAGGCCACACTTCGAGGTGGGCCTGGCCGTGGTGGTGCAGGACCAGCTGGGAGCCGCTGTGGTCGCCCTCAACAG___GTCTTTGGCCATCACCCTCCCAGAGCCCAACGGCAGCGCAACGGGGCTCACAGTCTGGCTGCACGGGCTCACCGCTAGTGTGCTCCCAGGGCTGCTGCGGCAGGCCGATCCCCAGCACGTCATCGAGTACTCGTTGGCCCTGGTCACCGTGCTGAACGAG___TACGAGCGGGCCCTGGACGTGGCGGCAGAGCCCAAGCACGAGCGGCAGCACCGAGCCCAGATACGCAAGAACATCACGGAGACTCTGGTGTCCCTGAGGGTCCACACTGTGGATGACATCCAGCAGATCGCTGCTGCGCTGGCCCAGTGCATG___GGGCCCAGCAGGGAGCTCGTATGCCGCTCGTGCCTGAAGCAGACGCTGCACAAGCTGGAGGCCATGATGCTCATCCTGCAGGCAGAGACCACCGCGGGCACCGTGACGCCCACCGCCATCGGAGACAGCATCCTCAACATCACAG___GAGACCTCATCCACCTGGCCAGCTCGGACGTGCGGGCACCACAGCCCTCAGAGCTGGGAGCCGAGTCACCATCTCGGATGGTGGCGTCCCAGGCCTACAACCTGACCTCTGCCCTCATGCGCATCCTCATGCGCTCCCGCGTGCTCAACGAGGAGCCCCTGACGCTGGCGGGCGAGGAGATCGTGGCCCAGGGCAAGCGCTCGGACCCGCGGAGCCTGCTGTGCTATGGCGGCGCCCCAGGGCCTGGCTGCCACTTCTCCATCCCCGAGGCTTTCAGCGGGGCCCTGGCCAACCTCAGTGACGTGGTGCAGCTCATCTTTCTGGTGGACTCCAATCCCTTTCCCTTTGGCTATATCAGCAACTACACCGTCTCCACCAAGGTGGCCTCGATGGCATTCCAGACACAGGCCGGCGCCCAGATCCCCATCGAGCGGCTGGCCTCAGAGCGCGCCATCACCGTGAAGGTGCCCAACAACTCGGACTGGGCTGCCCGGGGCCACCGCAGCTCCGCCAACTCCGCCAACTCCGTTGTGGTCCAGCCCCAGGCCTCCGTCGGTGCTGTGGTCACCCTGGACAGCAGCAACCCTGCGGCCGGGCTGCATCTGCAGCTCAACTATACGCTGCTGGACG___GCCACTACCTGTCTGAGGAACCTGAGCCCTACCTGGCAGTCTACCTACACTCGGAGCCCCGGCCCAATGAGCACAACTGCTCGGCTAGCAGGAGGATCCGCCCAGAGTCACTCCAGGGTGCTGACCACCGGCCCTACACCTTCTTCATTTCCCCGGG___GAGCAGAGACCCAGCGGGGAGTTACCATCTGAACCTCTCCAGCCACTTCCGCTGGTCGGCGCTGCAGGTGTCCGTGGGCCTGTACACGTCCCTGTGCCAGTACTTCAGCGAGGAGGACATGGTGTGGCGGACAGAGGGGCTGCTGCCCCTGGAGGAGACCTCGCCCCGCCAGGCCGTCTGCCTCACCCGCCACCTCACCGCCTTCGGCGCCAGCCTCTTCGTGCCCCCAAGCCATGTCCGCTTTGTGTTTCCT___GAGCCGACAGCGGATGTAAACTACATCGTCATGCTGACATGTGCTGTGTGCCTGGTGACCTACATGGTCATGGCCGCCATCCTGCACAAGCTGGACCAGTTGGATGCCAGCCGGGGCCGCGCCATCCCTTTCTGTGGGCAGCGGGGCCGCTTCAAGTACGAGATCCTCGTCAAGACAGGCTGGGGCCGGGGCTCAG___GTACCACGGCCCACGTGGGCATCATGCTGTATGGGGTGGACAGCCGGAGCGGCCACCGGCACCTGGACGGCGACAGAGCCTTCCACCGCAACAGCCTGGACATCTTCCGGATCGCCACCCCGCACAGCCTGGGTAGCGTGTGGAAGATCCGAGTGTGGCACGACAACAAAG___GGCTCAGCCCTGCCTGGTTCCTGCAGCACGTCATCGTCAGGGACCTGCAGACGGCACGCAGCGCCTTCTTCCTGGTCAATGACTGGCTTTCGGTGGAGACGGAGGCCAACGGGGGCCTGGTGGAGAAGGAGGTGCTGGCCGCGA___GCGACGCAGCCCTTTTGCGCTTCCGGCGCCTGCTGGTGGCTGAGCTGCAGCGTGGCTTCTTTGACAAGCACATCTGGCTCTCCATATGGGACCGGCCGCCTCGTAGCCGTTTCACTCGCATCCAGAGGGCCACCTGCTGCGTTCTCCTCATCTGCCTCTTCCTGGGCGCCAACGCCGTGTGGTACGGGGCTGTTGGCGACTCTGCCTACAG___CACGGGGCATGTGTCCAGGCTGAGCCCGCTGAGCGTCGACACAGTCGCTGTTGGCCTGGTGTCCAGCGTGGTTGTCTATCCCGTCTACCTGGCCATCCTTTTTCTCTTCCGGATGTCCCGGAGCAAG___GTGGCTGGGAGCCCGAGCCCCACACCTGCCGGGCAGCAGGTGCTGGACATCGACAGCTGCCTGGACTCGTCCGTGCTGGACAGCTCCTTCCTCACGTTCTCAGGCCTCCACGCTGAG___CAGGCCTTTGTTGGACAGATGAAGA)GTGACTTGTTTCTGGATGATTCTAAGAG|TGACCTTGAGGAACCCTGGGAGCTCAGGAAGGAAGGAGCGCCCAGAAGCAGGGACAGGGAGCTGGTTGGGGAGGACCAGAAATCAG___GTTATCAATACTCTGGCTGACCATCGTCATCG(TGAGACTGACTTTGGTGGAAGTCCTTGGATAATTATCATTATTGTGTTTCTGGGACGTTACAAATTTACCATTCTCTTCTGCACAATTTACCTTTGT___GTGCCTTTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATAGATCCAGGGATGTACAGCAGAGAGCTAGGAGGTCCAACCGCCGTAGACAGGAAG___GAATTAAAATTGGCCTGGAAGACATCTGTACTTTATGGAAACAGGCGGAAACAAAAGTTCAAGCTAAAATCCGTAAGATGAAGGTCACAAAGAAAGTCAACCATCATTACAAAATCAATGGAAAGAGGAAGACCGCCAAAGAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGTGGCGGGCAGAGGACTACCACAAATGCAAA___ATCACCCCCTCTGCAAGAAAGCCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCGCCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAATGTCTTCTTATTCCCCTTCCACCCTCTCCTCTTCCACCCTCCGTGGATGATAATCTCAAGACTCCTCCCTTAGCTACTCAGGAGGCCGAGGCAGAAAAATCACTGAAACCCAAGAGGCAGAGGTTGAGTAAGCTGAGAACAGGTCATTGCACTCAAGCCTGGGCAATAAGAAGAAATCTGTGAGTGGAACAAAAGAAAAAAATCAAAAAACAAAACAAA)$ MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKs|dleepwelrkegaprsrdrelvgedqksgyqysg* 14BR014 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 0 2 0 155 3 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGA)GACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAG(CAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 15BR003 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 19 24 0 118 74 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1),low_entropy(1),mismatches(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAAC)AGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 15BR003 ENSG00000113924.12 ENSG00000153767.10 -/+ +/+ chr3:120675939 chr3:120750523 intron 5'UTR/splice-site deletion/read-through/3'-3' 12 20 1 70 57 high . . |C-terminal_general_transcription_factor_TFIIE_alpha(100%),TFIIB_zinc-binding(100%),TFIIE_alpha_subunit(100%) . . ENSG00000113924.12 ENSG00000153767.10 . ENST00000283875.6 downstream upstream duplicates(3),mismappers(1) TAAGCACTTTATTTGCTCATACCTGTCCTTCTGGCAGGGAACCTGGGCAGCGAGGATCCTCTGAAGAACACTCATTCCCAAATCCAGAAATGTACTGTAGGTGACAAAGACACAAATGCCACCATTAGCAGGATTTAAAGAGCATTTCAGAAAATTGGCAGTTTACTAAG|TATATTTAAAGTTGGAGTTCGTTGCTAAAGATGGCAGACCCAGATGTCCTCACTGAAGTTCCAGCAGCATTGAAGCGGTTAGCCAAGTATGTGATCCGGGGATTTTATGGCATTGAGCATGCCTTGGCCTTGGACATCTTGATCAGGAACTCCTGTGTGAAAGAGGAGGATATGCTGGAGCTGCTCAAGTTTGATCGGAAGCAACTTCGATCAGTTTTGAATAATTTAAAGGGAGACAAGTTTATCAAATGCAGAATGAGGGTAGAGACTGCTGCAGACGGGAAA(ACCACTCGCCATAACTACTACTTCATCAATTATCGTACTCTTGTTAATGTGGTAAAATATAAACTGGACCACATGAGAAGAAGAATTGAGACCGATGAGAGAGATTCGACCAACCGGGCTTCCTTCAAATGTCCTGTCTGTAGTAGTACTTTCACAGACTTAGAAGCTAATCAGCTCTTTGATCCTATGACAG___GAACTTTCCGCTGTACTTTTTGCCATACAGAGGTAGAAGAGGATGAATCAGCAATGCCCAAAAAAGATGCACGCACACTTTTGGCAAGGTTTAATGAACAAATTGAGCCCATTTATGCATTGCTTCGGGAGACAGAGGATGTGAACTTGGCCTATGAAATACTTGAGCCAGAACCCACAGAAATCCCAGCCCTGAAACAGAG___CAAGGACCATGCAGCAACTACTGCTGGAGCTGCTAGCCTAGCAGGTGGGCACCACCGGGAAGCATGGGCCACCAAAGGTCCTTCCTATGAAGACTTATACACTCAGAATGTTGTCATTAACATGGATGACCAAGAAGATCTTCATCGAGCCTCACTGGAAGGGAAATCTGCCAAAGAGAGGCCTATTTGGTTGAGAGAAAGCACTGTCCAAGGGGCATATGGTTCTGAAGATATGAAAGAAG___GGGGCATAGATATGGACGCATTTCAGGAGCGTGAGGAAGGCCATGCTGGGCCTGATGACAACGAAGAGGTCATGCGAGCACTGCTCATTCACGAGAAAAAGACTTCCTCTGCCATGGCTGGTTCAGTGGGGGCAGCTGCTCCAGTGACCGCTGCCAATGGCAGTGACTCAGAAAGCGAGACCAGTGAGTCAGATGATGATTCTCCACCCCGTCCGGCAGCTGTGGCTGTGCATAAACGAGAAGAGGATGAAGAGGAAGATGACGAGTTTGAAGAAGTAGCAGATGACCCCATTGTCATGGTGGCTGGCCGTCCGTTCTCCTACAGTGAAGTGAGCCAACGGCCAGAGCTAGTGGCCCAGATGACACCAGAAGAAAAGGAAGCATATATAGCAATGGGACAACGCATGTTTGAGGACCTCTTTGAGTGAGCTTTCCCTAATTCTTTCTCCTTTCTCTAATGCTCAGTTCAAAAAGGAATGTCTCATCTTTGAAGAAAAGTATTTAAGTGGCTTTCTGCCCCTCTTGATGTAAGCAACTGTCCATCCTTGTGCAAAGATTGATGGTAGAGAGTTTGACTTTTATGCCAGAAACTTTCCCAGCAAGGTAGGGTGCTGAGAATCCTACCCTTCCTTGCTGTCACTACAGTATTAATATTTTACTGTATTTTCTTTTCTTTTTTTTTTTTTTTTGGAGATGAAGTCTCACTCTTGTACCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTAGCCAGGATGATCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGTATTTTCTTATCTGATTTTTTTCTTGCCTTATTAAGACATAATTTTCTCCCTTCTGAAATGAGTGAGGGAAGTTCATAAGGTAAATCCTTCCCATCCATCTGTTTACTACAATAGGTTACAATAATTCACTGATCACATCCATTTTATCTGTTCTAGCCAGGCATTCCAAACAATTTCTTATACTGCTGCCCACCAAAGCAGCTTGCCAACAGTCAAATCACTGATTGGGGGAAAAAATCCTGAAATTTTGCTTAGAATTTGAGCATTTCCTCAAAATTGAGATGGATCAATATGTAAGGGGAGGTGGGAGCGTGTGTGGAAGGGGGAGAGATATACTTGAGTCTTATGATTAATGTCTAAACCAGAATTTGTGTCTTTAGAACTGACCAGACTGGTAGATTTTATTGTATTGCTTAATGTCTTTTGGTTTGGATTTAGGATGATAGAAAACAGAAGTATAATTGGTAAACCCTTAGGAAGAAATTAGAAAAACATGGACGTAAGACAAGAAGTCTCTGTGAAGGGTTGAAGAGTGACAAGCATTGGTAACAGTGCCTTAGAACTGTGTCAGTTAGTCTGATTTGGAAATCCTTTATGTAAAGCTGAGACTGGTCCTGGTTTTGTTCCCTTTGGGTACAGACCTCTTGTCAGTGCTATAAATTGTTTAATGAGGCCATTCCAGCAGAAATCAACAGAATAATTGATTACTCTTCTCTCTCTCTGTCACTCTCCCTCTTTCTAAACATCATTGAAGGCTGTCTCTCTTTTAATTTTTGTCAGACACAGTATTTTAGGGTGCATCCAGTATACCATTGAGCATTGTAACCTCAGGAAACAGTTTATTTTGGGTTCTGATATGTAGCATGGTATTTTCCCTAAGGCAGAACTTTAAAAATAAAGAACTTTCACACAAGGGTCTGTAACAATTGTATATCTTACAATATTTTTCCTTGCATTGTAATTTTTAAGTATTTATCATTTTATAGTACACATGTAAAGAATATATGAGCCTTGTATGGAGTGATGTTTCATTTACCTGGGTTGTGTTAATGACTGAATGTTGACAATAAATCTGTTTTATACTGA)$ . 15BR003 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 18 2 46 56 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(3),low_entropy(3),mismatches(3) CCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 15BR003 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 15 4 1 148 53 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGA)AATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 15BR003 ENSG00000062038.14 ENSG00000039068.19 +/+ +/+ chr16:68682487 chr16:68813313 CDS/splice-site CDS/splice-site deletion/read-through 8 4 1 20 19 high in-frame . Cadherin_domain(100%)|Cadherin_cytoplasmic_region(100%),Cadherin_domain(100%) . . ENSG00000062038.14 ENSG00000039068.19 ENST00000264012.9 ENST00000261769.10 downstream upstream duplicates(1) ^(AAAGGGGCAAGAGCTGAGCGGAACACCGGCCCGCCGTCGCGGCAGCTGCTTCACCCCTCTCTCTGCAGCCATGGGGCTCCCTCGTGGACCTCTCGCGTCTCTCCTCCTTCTCCAG___GTTTGCTGGCTGCAGTGCGCGGCCTCCGAGCCGTGCCGGGCGGTCTTCAGGGAGGCTGAAGTGACCTTGGAGGCGGGAGGCGCGGAGCAGGAGCCCGGCCAGGCGCTGGGGAAAG___TATTCATGGGCTGCCCTGGGCAAGAGCCAGCTCTGTTTAGCACTGATAATGATGACTTCACTGTGCGGAATGGCGAGACAGTCCAG___GAAAGAAGGTCACTGAAGGAAAGGAATCCATTGAAGATCTTCCCATCCAAACGTATCTTACGAAGACACAAGAGAGATTGGGTGGTTGCTCCAATATCTGTCCCTGAAAATGGCAAGGGTCCCTTCCCCCAGAGACTGAATCAG___CTCAAGTCTAATAAAGATAGAGACACCAAGATTTTCTACAGCATCACGGGGCCGGGGGCAGACAGCCCCCCTGAGGGTGTCTTCGCTGTAGAGAAGGAGACAGGCTGGTTGTTGTTGAATAAGCCACTGGACCGGGAGGAGATTGCCAAGTATGAG___CTCTTTGGCCACGCTGTGTCAGAGAATGGTGCCTCAGTGGAGGACCCCATGAACATCTCCATCATCGTGACCGACCAGAATGACCACAAGCCCAAGTTTACCCAGGACACCTTCCGAGGGAGTGTCTTAGAGGGAGTCCTACCAG___GTACTTCTGTGATGCAGGTGACAGCCACGGATGAGGATGATGCCATCTACACCTACAATGGGGTGGTTGCTTACTCCATCCATAGCCAAGAACCAAAGGACCCACACGACCTCATGTTCACCATTCACCGGAGCACAGGCACCATCAGCGTCATCTCCAGTGGCCTGGACCGGGAA___AAAGTCCCTGAGTACACACTGACCATCCAGGCCACAGACATGGATGGGGACGGCTCCACCACCACGGCAGTGG)CAGTAGTGGAGATCaTTGATGCCAATGACAATGCTCCCATGTTTGACCCCCAGAAG___TACGAGGCCCATGTGCCTGAGAATGCAGTGGGCCATGAGGTGCAGAGGCTGACGGTCACTGATCTGGACGCCCCCAACTCACCAGCGTGGCGTGCCACCTACCTTATCATGGGCGGTGACGACGGGGACCATTTTACCATCACCACCCACCCTGAGAGCAACCAGGGCATCCTGACAACCAGGAAG|TACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAAG___GGCTTGGATTTTGAGGCCAAGCAGCAGTACATTCTAC(ACGTAGCAGTGACGAATGTGGTACCTTTTGAGGTCTCTCTCACCACCTCCACAGCCACCGTCACCGTGGATGTGCTGGATGTGAATGAAGCCCCCATCTTTGTGCCTCCTGAAAAGAGAGTGGAAGTGTCCGAGGACTTTGGCGTGGGCCAGGAAATCACATCCTACACTGCCCAGGAGCCAGACACATTTATGGAACAGAAAATAAC___ATATCGGATTTGGAGAGACACTGCCAACTGGCTGGAGATTAATCCGGACACTGGTGCCATTTCCACTCGGGCTGAGCTGGACAGGGAGGATTTTGAGCACGTGAAGAACAGCACGTACACAGCCCTAATCATAGCTACAGACAATG___GTTCTCCAGTTGCTACTGGAACAGGGACACTTCTGCTGATCCTGTCTGATGTGAATGACAACGCCCCCATACCAGAACCTCGAACTATATTCTTCTGTGAGAGGAATCCAAAGCCTCAGGTCATAAACATCATTGATGCAGACCTTCCTCCCAATACATCTCCCTTCACAGCAGAACTAACACACGGGGCGAGTGCCAACTGGACCATTCAGTACAACGACCCAA___CCCAAGAATCTATCATTTTGAAGCCAAAGATGGCCTTAGAGGTGGGTGACTACAAAATCAATCTCAAGCTCATGGATAACCAGAATAAAGACCAAGTGACCACCTTAGAGGTCAGCGTGTGTGACTGTGAAGGGGCCGCTGGCGTCTGTAGGAAGGCACAGCCTGTCGAAGCAGGATTGCAAATTCCTGCCATTCTGGGGATTCTTGGAGGAATTCTTGCTTTGCTAA___TTCTGATTCTGCTGCTCTTGCTGTTTCTTCGGAGGAGAGCGGTGGTCAAAGAGCCCTTACTGCCCCCAGAGGATGACACCCGGGACAACGTTTATTACTATGATGAAGAAGGAGGCGGAGAAGAGGACCAG___GACTTTGACTTGAGCCAGCTGCACAGGGGCCTGGACGCTCGGCCTGAAGTGACTCGTAACGACGTTGCACCAACCCTCATGAGTGTCCCCCGGTATCTTCCCCGCCCTGCCAATCCCGATGAAATTGGAAATTTTATTGATGAA___AATCTGAAAGCGGCTGATACTGACCCCACAGCCCCGCCTTATGATTCTCTGCTCGTGTTTGACTATGAAGGAAGCGGTTCCGAAGCTGCTAGTCTGAGCTCCCTGAACTCCTCAGAGTCAGACAAAGACCAGGACTATGACTACTTGAACGAATGGGGCAATCGCTTCAAGAAGCTGGCTGACATGTACGGAGGCGGCGAGGACGACTAGGGGACTCGAGAGAGGCGGGCCCCAGACCCATGTGCTGGGAAATGCAGAAATCACGTTGCTGGTGGTTTTTCAGCTCCCTTCCCTTGAGATGAGTTTCTGGGGAAAAAAAAGAGACTGGTTAGTGATGCAGTTAGTATAGCTTTATACTCTCTCCACTTTATAGCTCTAATAAGTTTGTGTTAGAAAAGTTTCGACTTATTTCTTAAAGCTTTTTTTTTTTTCCCATCACTCTTTACATGGTGGTGATGTCCAAAAGATACCCAAATTTTAATATTCCAGAAGAACAACTTTAGCATCAGAAGGTTCACCCAGCACCTTGCAGATTTTCTTAAGGAATTTTGTCTCACTTTTAAAAAGAAGGGGAGAAGTCAGCTACTCTAGTTCTGTTGTTTTGTGTATATAATTTTTTAAAAAAAATTTGTGTGCTTCTGCTCATTACTACACTGGTGTGTCCCTCTGCCTTTTTTTTTTTTTTAAGACAGGGTCTCATTCTATCGGCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGTCCTCCCAGGCTCAAGCTATCCTTGCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACTACGCATGACTAATTTTTTAAATATTTGAGACGGGGTCTCCCTGTGTTACCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCATCTTGGCCTCCCAGAGTATTGGGATTACAGACATGAGCCACTGCACCTGCCCAGCTCCCCAACTCCCTGCCATTTTTTAAGAGACAGTTTCGCTCCATCGCCCAGGCCTGGGATGCAGTGATGTGATCATAGCTCACTGTAACCTCAAACTCTGGGGCTCAAGCAGTTCTCCCACCAGCCTCCTTTTTATTTTTTTGTACAGATGGGGTCTTGCTATGTTGCCCAAGCTGGTCTTAAACTCCTGGCCTCAAGCAATCCTTCTGCCTTGGCCCCCCAAAGTGCTGGGATTGTGGGCATGAGCTGCTGTGCCCAGCCTCCATGTTTTAATATCAACTCTCACTCCTGAATTCAGTTGCTTTGCCCAAGATAGGAGTTCTCTGATGCAGAAATTATTGGGCTCTTTTAGGGTAAGAAGTTTGTGTCTTTGTCTGGCCACATCTTGACTAGGTATTGTCTACTCTGAAGACCTTTAATGGCTTCCCTCTTTCATCTCCTGAGTATGTAACTTGCAATGGGCAGCTATCCAGTGACTTGTTCTGAGTAAGTGTGTTCATTAATGTTTATTTAGCTCTGAAGCAAGAGTGATATACTCCAGGACTTAGAATAGTGCCTAAAGTGCTGCAGCCAAAGACAGAGCGGAACTATGAAAAGTGGGCTTGGAGATGGCAGGAGAGCTTGTCATTGAGCCTGGCAATTTAGCAAACTGATGCTGAGGATGATTGAGGTGGGTCTACCTCATCTCTGAAAATTCTGGAAGGAATGGAGGAGTCTCAACATGTGTTTCTGACACAAGATCCGTGGTTTGTACTCAAAGCCCAGAATCCCCAAGTGCCTGCTTTTGATGATGTCTACAGAAAATGCTGGCTGAGCTGAACACATTTGCCCAATTCCAGGTGTGCACAGAAAACCGAGAATATTCAAAATTCCAAATTTTTTTCTTAGGAGCAAGAAGAAAATGTGGCCCTAAAGGGGGTTAGTTGAGGGGTAGGGGGTAGTGAGGATCTTGATTTGGATCTCTTTTTATTTAAATGTGAATTTCAACTTTTGACAATCAAAGAAAAGACTTTTGTTGAAATAGCTTTACTGTTTCTCAAGTGTTTTGGAGAAAAAAATCAACCCTGCAATCACTTTTTGGAATTGTCTTGATTTTTCGGCAGTTCAAGCTATATCGAATATAGTTCTGTGTAGAGAATGTCACTGTAGTTTTGAGTGTATACATGTGTGGGTGCTGATAATTGTGTATTTTCTTTGGGGGTGGAAAAGGAAAACAATTCAAGCTGAGAAAAGTATTCTCAAAGATGCATTTTTATAAATTTTATTAAACAATTTTGTTAAA)$ MGLPRGPLASLLLLQVCWLQCAASEPCRAVFREAEVTLEAGGAEQEPGQALGKVFMGCPGQEPALFSTDNDDFTVRNGETVQERRSLKERNPLKIFPSKRILRRHKRDWVVAPISVPENGKGPFPQRLNQLKSNKDRDTKIFYSITGPGADSPPEGVFAVEKETGWLLLNKPLDREEIAKYELFGHAVSENGASVEDPMNISIIVTDQNDHKPKFTQDTFRGSVLEGVLPGTSVMQVTATDEDDAIYTYNGVVAYSIHSQEPKDPHDLMFTIHRSTGTISVISSGLDREKVPEYTLTIQATDMDGDGSTTTAVAVVEIiDANDNAPMFDPQKYEAHVPENAVGHEVQRLTVTDLDAPNSPAWRATYLIMGGDDGDHFTITTHPESNQGILTTRK|YKGQVPENEANVVITTLKVTDADAPNTPAWEAVYTILNDDGGQFVVTTNPVNNDGILKTAKGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVLDVNEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTGAISTRAELDREDFEHVKNSTYTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTIQYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILALLILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPRPANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGEDD* 15BR003 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 9 0 13 90 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream inconsistently_clipped(1),mismappers(1) GCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGC(TGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 15BR003 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 2 9 0 12 17 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream . GCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGA(TAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 15BR003 ENSG00000227965.1(27503),ENSG00000223867.1(21837) ENSG00000106546.14 ./+ +/+ chr7:16916388 chr7:17204703 intergenic 5'UTR/splice-site deletion/read-through 3 8 0 24 24 high . . |Helix-loop-helix_DNA-binding_domain(100%),PAS_fold(100%) . . . ENSG00000106546.14 . ENST00000642825.1 downstream upstream . AAGGCCACgTGAGGACCTGCCCTCCTACAGCAGGGACATTTGTATCTAAAGAGTGtTGCCTATAGGGGAGCAGCAACTTGGAAGAAAAGGCCTAATACTTAAGGGTCAAGGAAGGAGTTGCAAGTGATCACCCAGCCTGGAGAAGCATCTGCCCGAGTCAAGGAAACTTTACAAGAGAAATCCCCAGTGTGCACCCCTATGAAGAGCCTACAATGGTATGTCTACAAGAGTGAGTCATCCTTACTTCTGCCAGACCCAGATAGTTGCAAGCTGTCTTTGCTACCATTTCAG|AGTGCCTTTTCAGGAATTAATTCTGCTGTTAGAGAAGTACCTATGTCTTCAGAGAATGTAAAG(___GTCATAAGACCCTCATTTCAGAAGAGGTCCTGCCCATACCTGGAAGGGATGCTACACAGTGAGACCAAGAAGACTGAACAGAGAGGCCTTTCTGGGTTTCCCCTCTGAGTCTATTAGCATCAGCTGTATCCCTTTTGTTCCATCACATTTCTACATGGTTGCTCAGTCTTCAATCGTGCCCATTCAGTGAAATCTCCATAAGACGCCCAAAGAGGATGGGGTACAGAGAGCTTGGACAGCTGAACACAAAGAGACTTACAGGAAAGTGAACAAGACTCATCTACAGTAGGGTGGGAGCACCCTAACTCCATGCGAATGGAAGCTCCTGCACTTGGTACCTTTTCAAACCTCGCACTATGAATTTCTTTATCTGGCTTTTTATTTATATCCTTTAAAATATCTTTTATAATAAATGGATAAATGTGTTTCCCTGAGTTTTGTGAGCTGCTCTAGCAAATTGACTACGCTTAAAGAGGGGGTTGTGGGAACCCCAACCGGAAGCTGGTAGATCAGAAGTTCAGAGGCCTGGACTTGCGACTGGTGTCTGACGCGGGGCAGTCTTGTGGGAACTGACACTATCTCCTGGAAGATGACATAAGAATTGAATTGGATTAGAAGACGCCCAGCTGGTGTCCACTACAGAACTGATTGCTTGCTTGTTGGTTGGGAGAAATCTCCACACATTGGGTAAAAGAAGTTTGCTGTGTTGATTGCTGTGGTGTAAGAGCAGAAGAAAAAGTTATTTTCTACACA___GAGAAAGAAACCCATACACATACAGCTGCATCTGAAACCTCAGAAACTAAGCTCAACCCAATTGATTAAAAGGATGTTCTTTGGATAAG___CAGATGGACACAAACCATACTTTGAGAACCATGTTCCACAGTGCCAATACAGGAAGTTTCTAGATAATGGCAGCTCATTTTTTAAAAATGGCACTACACTATACTGTATTCACATGCCAGCAAAACTGTTAAG___AGTAAAGCCAATCCCAGCTGAAGGAATCAAGTCAAATCCTTCCAAGCGGCATAGAGACCGACTTAATACAGAGTTGGACCGTTTGGCTAGCCTGCTGCCTTTCCCACAAGATGTTATTAATAAGTTGGACAAACTTTCAGTTCTTAGGCTCAGCGTCAGTTACCTGAGAGCCAAGAGCTTCTTTGATG___TTGCATTAAAATCCTCCCCTACTGAAAGAAACGGAGGCCAGGATAACTGTAGAGCAGCAAATTTCAGAGAAGGCCTGAACTTACAAGAAGGAGAATTCTTATTACAG___GCTCTGAATGGCTTTGTATTAGTTGTCACTACAGATGCTTTGGTCTTTTATGCTTCTTCTACTATACAAGATTATCTAGGGTTTCAGCAG___TCTGATGTCATACATCAGAGTGTATATGAACTTATCCATACCGAAGACCGAGCTGAATTTCAGCGTCAGCTACACTGGGCATTAAATCCTTCTCAGTGTACAGAGTCTGGACAAGGAATTGAAG___AAGCCACTGGTCTCCCCCAGACAGTAGTCTGTTATAACCCAGACCAGATTCCTCCAGAAAACTCTCCTTTAATGGAGAGGTGCTTCATATGTCGTCTAAGGTGTCTGCTGGATAATTCATCTGGTTTTCTG___GCAATGAATTTCCAAGGGAAGTTAAAGTATCTTCATGGACAGAAAAAGAAAGGGAAAGATGGATCAATACTTCCACCTCAGTTGGCTTTGTTTGCGATAGCTACTCCACTTCAGCCACCATCCATACTTGAAATCCGGACCAAAAATTTTATCTTTAGAACCAAACACAAACTAGACTTCACACCTATTGGTTGTGATGCCAA___AGGAAGAATTGTTTTAGGATATACTGAAGCAGAGCTGTGCACGAGAGGCTCAGGTTATCAGTTTATTCATGCAGCTGATATGCTTTATTGTGCCGAGTCCCATATCCGAA___TGATTAAGACTGGAGAAAGTGGCATGATAGTTTTCCGGCTTCTTACAAAAAACAACCGATGGACTTGGGTCCAGTCTAATGCACGCCTGCTTTATAAAAATGGAAGACCAGATTATATCATTGTAACTCAGAGACCACTAAC___AGATGAGGAAGGAACAGAGCATTTACGAAAACGAAATACGAAGTTGCCTTTTATGTTTACCACTGGAGAAGCTGTGTTGTATGAGGCAACCAACCCTTTTCCTGCCATAATGGATCCCTTACCACTAAGGACTAAAAATGGCACTAGTGGAAAAGACTCTGCTACCACATCCACTCTAAGCAAGGACTCTCTCAATCCTAGTTCCCTCCTGGCTGCCATGATGCAACAAGATGAGTCTATTTATCTCTATCCTGCTTCAAGTACTTCAAGTACTGCACCTTTTGAAAACAACTTTTTCAACGAATCTATGAATGAATGCAGAAATTGGCAAGATAATACTGCACCGATGGGAAATGATACTATCCTGAAACATGAGCAAATTGACCAGCCTCAGGATGTGAACTCATTTGCTGGAGGTCACCCAGGGCTCTTTCAAGATAGTAAAAACAGTGACTTGTACAGCATAATGAAAAACCTAGGCATTGATTTTGAAGACATCAGACACATGCAGAATGAAAAATTTTTCAGAAATGATTTTTCTGGTGAGGTTGACTTCAGAGACATTGACTTAACGGATGAAATCCTGACGTATGTCCAAGATTCTTTAAGTAAGTCTCCCTTCATACCTTCAGATTATCAACAGCAACAGTCCTTGGCTCTGAACTCAAGCTGTATGGTACAGGAACACCTACATCTAGAACAGCAACAGCAACATCACCAAAAGCAAGTAGTAGTGGAGCCACAGCAACAGCTGTGTCAGAAGATGAAGCACATGCAAGTTAATGGCATGTTTGAAAATTGGAACTCTAACCAATTCGTGCCTTTCAATTGTCCACAGCAAGACCCACAACAATATAATGTCTTTACAGACTTACATGGGATCAGTCAAGAGTTCCCCTACAAATCTGAAATGGATTCTATGCCTTATACACAGAACTTTATTTCCTGTAATCAGCCTGTATTACCACAACATTCCAAATGTACAGAGCTGGACTACCCTATGGGGAGTTTTGAACCATCCCCATACCCCACTACTTCTAGTTTAGAAGATTTTGTCACTTGTTTACAACTTCCTGAAAACCAAAAGCATGGATTAAATCCACAGTCAGCCATAATAACTCCTCAGACATGTTATGCTGGGGCCGTGTCGATGTATCAGTGCCAGCCAGAACCTCAGCACACCCACGTGGGTCAGATGCAGTACAATCCAGTACTGCCAGGCCAACAGGCATTTTTAAACAAG___TTTCAGAATGGAGTTTTAAATGAAACATATCCAGCTGAATTAAATAACATAAATAACACTCAGACTACCACACATCTTCAGCCACTTCATCATCCGTCAGAAGCCAGACCTTTTCCTGATTTGACATCCAGTGGATTCCTGTAATTCCAAGCCCAATTTTGACCCTGGTTTTTGGATTAAATTAGTTTGTGAAGGATTATGGAAAAATAAAACTGTCACTGTTGGACGTCAGCAAGTTCACATGGAGGCATTGATGCATGCTATTCACAATTATTCCAAACCAAATTTTAATTTTTGCTTTTAGAAAAGGGAGTTTAAAAATGGTATCAAAATTACATATACTACAGTCAAGATAGAAAGGGTGCTGCCACGGAGTGGTGAGGTACCGTCTACATTTCACATTATTCTGGGCACCACAAAATATACAAAACTTTATCAGGGAAACTAAGATTCTTTTAAATTAGAAAATATTCTCTATTTGAATTATTTCTGTCACAGTAAAAATAAAATACTTTGAGTTTTGAGCTACTGGATTCTTATTAGTTCCCCAAATACAAAGTTAGAGAACTAAACTAGTTTTTCCTATCATGTTAACCTCTGCTTTTATCTCAGATGTTAAAATAAATGGTTTGGTGCTTTTTATAAAAAGATAATCTCAGTGCTTTCCTCCTTCACTGTTTCATCTAAGTGCCTCACATTTTTTTCTACCTATAACACTCTAGGATGTATATTTTATATAAAGTATTCTTTTTCTTTTTTAAATTAATATCTTTCTGCACACAAATATTATTTGTGTTTCCTAAATCCAACCATTTTCATTAATTCAGGCATATTTTAACTCCACTGCTTACCTACTTTCTTCAGGTAAAGGGCAAATAATGATCGAAAAAATAATTATTTATTACATAATTTAGTTGTTTCTAGACTATAAATGTTGCTATGTGCCTTATGTTGAAAAAATTTAAAAGTAAAATGTCTTTCCAAATTATTTCTTAATTATTATAAAAATATTAAGACAATAGCACTTAAATTCCTCAACAGTGTTTTCAGAAGAAATAAATATACCACTCTTTACCTTTATTGATATCTCCATGATGATAGTTGAATGTTGCAATGTGAAAAATCTGCTGTTAACTGCAACCTTGTTTATTAAATTGCAAGAAGCTTTATTTCTAGCTTTTTAATTAAGCAAAGCACCCATTTCAATGTGTATAAATTGTCTTTAAAAACTGTTTTAGACCTATAATCCTTGATAATATATTGTGTTGACTTTATAAATTTCGCTTCTTAGAACAGTGGAAACTATGTGTTTTTCTCATATTTGAGGAGTGTTAAGATTGCAGATAGCAAGGTTTGGTGCAAAGTATTGTAATGAGTGAATTGAATGGTGCATTGTATAGATATAATGAACAAAATTATTTGTAAGATATTTGCAGTTTTTCATTTTAAAAAGTCCATACCTTATATATGCACTTAATTTGTTGGGGCTTTACATACTTTATCAATGTGTCTTTCTAAGAAATCAAGTAATGAATCCAACTGCTTAAAGTTGGTATTAATAAAAAGACAACCACATAGTTCGTTTACCTTCAAACTTTAGGTTTTTTTAATGATATACTGATCTTCATTACCAATAGGCAAATTAATCACCCTACCAACTTTACTGTCCTAACATGGTTTAAAAGAAAAAATGACACCATCTTTTATTCTTTTTTTTTTTTTTTTTTGAGAGAGAGTCTTACTCTGCCGCCCAAACTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCGAGTTGCTGGGATTACAGGCATGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAAACGGGTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAGCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCATTCAGCTCTTCTTTTCTTTAGATATGAGAGCTGAAGAGCTTAGACACATTTTGCATGTATTATTTGAAAATCTGATGGAATCCCAAACTGAGATGTATTAAAATACAATTTTTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTGGGGAGGGCGAGGAGGGTGGATCACGAGGTCAAGAGATGGAGACCATCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGTGAGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCCTGAACCTGGGAATCGGAGGTTGCAGAGCCAAGATCGCCCCACTGCACTCCAGCCTGGCAATAGACCGAGACTCCGTCTCCAAAAAAAAAAAAAATACAATTTTTATTTCTTTTACTTTTTTTAGTAAGTTAATGTATATAAAAATGGCTTCGGACAAAATATCTCTGAGTTCTGTGTATTTTCAGTCAAAACTTTAAACCTGTAGAATCAATTTAAGTGTTGGAAAAAATTTGTCTGAAACATTTCATAATTTGTTTCCAGCATGAGGTATCTAAGGATTTAGACCAGAGGTCTAGATTAATACTCTATTTTTACATTTAAACCTTTTATTATAAGTCTTACATAAACCATTTTTGTTACTCTCTTCCACATGTTACTGGATAAATTGTTTAGTGGAAAATAGGCTTTTTAATCATGAATATGATGACAATCAGTTATACAGTTATAAAATTAAAAGTTTGAAAAGCAATATTGTATATTTTTATCTATATAAAATAACTAAAATGTATCTAAGAATAATAAAATCACGTTAAACCAAATACACGTTTGTCTGTATTGTTAAGTGCCAAACAAAGGATACTTAGTGCACTGCTACATTGTGGGATTTATTTCTAGATGATGTGCACATCTAAGGATATGGATGTGTCTAATTTAGTCTTTTCCTGTACCAGGTTTTTCTTACAATACCTGAAGACTTACCAGTATTCTAGTGTATTATGAAGCTTTCAACATTACTATGCACAAACTAGTGTTTTTCGATGTTACTAAATTTTAGGTAAATGCTTTCATGGCTTTTTTCTTCAAAATGTTACTGCTTACATATATCATGCATAGATTTTTGCTTAAAGTATGATTTATAATATCCTCATTATCAAAGTTGTATACAATAATATATAATAAAATAACAAATATGAATAA)$ . 15BR003 ENSG00000078269.15 ENSG00000229017.7 +/+ -/- chr6:157982088 chr6:143021953 CDS/splice-site exon/splice-site inversion 1 3 0 1 4 high out-of-frame . . . . ENSG00000078269.15 ENSG00000229017.7 ENST00000355585.9 ENST00000657496.1 downstream downstream . ^(GAAACTCTGGCAAGTTGCGGGCGCGCGGGGAGCTGTCGCGGGCAGCGCGCCCTCGGGAGGACGTGGCCCCGGCCCCCGCCCGCAGTGGGCCCGACCCTCATGGCCCTGAGCAAAGGGCTGCGGCTGCTGGGGCGCCTGGGGGCCGAG)GGGGACTGTAGCGTGCTGCTGGAGGCGCGCGGCCGCGACGACTGCCTGCTGTTCGAGGCCGGCACGGTGGCCACGCTGG|GTCACGTTGACAGCATGAACCTTCGATGTGATGTGAGGAAAATGGCATTCTACCTCTGTGTTCTTCCTCCCCAAAATTTGTAACCACCATCTAATCATGAGGAAAACATCATACAAGTCCAAATTGAGGAAGATTCTAC(AAAATGCCTGATTAATATTCATCGAAACTGTCAAGGTCATCAAAAGCAAGGAAAGTCTGAGAAACTGCCACAGCCTAAAGACAATCCAGGGAAACGTGATGACTCAGTGGTATTCGGGGTGGGTTTCTGGAACAGCAAAAGGACAACAGGTAAAATCTAAGAACATACGAATAAAGTGTGAACTTTAATTAATAATGATGTATCAATATTGATTCATTAGTTTTGACAAATGTACCATAGTAACGGAAGATGTTAACAATTAGAGAAACTGGGTGCAGGGTTGTGGGAACCCTGTGTACTATCTTTGCAACTTCCCTATAAATCTAAGACCATTCTAGAATACAAAGTTCATTTTAAAATAAATTTTTAAAATATTTAGAATACTAGACCACGGTATCAAAATAGGTAGAAATCCTTAGTCATAGGACTCTTATA)$ MALSKGLRLLGRLGAEGDCSVLLEARGRDDCLLFEAGTVATL|ghvdsmnlrcdvrkmafylcvlppqnl* 15BR003 ENSG00000106571.14 ENSG00000011426.11 -/- +/+ chr7:42148226 chr7:36410514 CDS/splice-site CDS/splice-site inversion 2 1 0 8 14 high in-frame . |Anillin_N-terminus(100%),Cell_division_protein_anillin(100%),PH_domain(100%) . . ENSG00000106571.14 ENSG00000011426.11 ENST00000395925.8 ENST00000396068.6 upstream upstream . ^(ACACTCGCACTCGCGCACACCCGCCGCTCCCACTCACCCGCGCCGCTCTCCCGCCTTCCCCGCGCGCCCCGCGGCCGCCCGCGCCGCACCATGCCCGCGGCGGGCGCACCCCGCGCCCAGCCCGGCCGCTCGCGGTAGCCGTAGCCGCCCGCGGCCGCGCGGAGCGGGGAGCCGCCAGCCTGCGCCCCGTCCGCGGGTCTATGGGAAGTTCGGGGACTTGACAGCCGCTGCCGCCGCAG___GGCATTTTTGGTCGAAGAGAGCTGAAGTAATGAGAAGACATCATGGAGGCCCAGTCCCACAGCTCCACGACCACTGAAAAGAAAAAAGTTGAGAATTCCATAGTGAAGTGCTCCACTCGAACAGATGTGAGCGAGAAAGCCGTTGCCTCCAGCACCACTTCTAATG___AGGATGAAAGTCCTGGACAGACTTATCACAGAGAGAGAAGAAACGCAATCACTATGCAGCCACAGAAT)GTCCAGGGGCTCAGCAAAGTCAGTGAGGAACCTTCAACATCGAGTGACGAGAGGGCCTCATTGATCAAGAAAGAGATCCATGGGTCCCTGCCACACGTGGCGGAGCCCTCTGTGCCGTACCGCGGGACGGTGTTTGCCATGGACCCCAGGAATGGTTACATGGAGCCCCACTACC|GAGGAACAGGAATTAAGCCTTTCCTGGAACGCTTTGGAGAGCGTTGTCAAGAACATAGCAAAGAAAGTCCAGCTCGTAGCACACCCCACAGAACCCCCATTATTACTCCAAATACAAAGGCCATCCAAGAAAGATTATTCAAGCAAGACACATCTTCATCTACTACCCATTTAGCAC(AACAGCTCAAGCAG___GAACGTCAAAAAGAACTAGCATGTCTTCGTGGCCGATTTGACAAGGGCAATATATGGAGTGCAGAAAAAGGCGGAAACTCAAAAAGCAAACAACTAGAAACCAAACAG___GAAACTCACTGTCAGAGCACTCCCCTCAAAAAACACCAAGGTGTTTCAAAAACTCAGTCACTTCCAGTAACAGAAAAGGTGACCGAAAACCAGATACCAGCCAAAAATTCTAGTACAGAACCTAAAG___AAGTGATACGTGAAATTGAGATGAGTGTGGATGATGATGATATCAATAGTTCGAAAGTAATTAATGACCTCTTCAGTGATGTCCTAGAGGAAGGTGAACTAGATATGGAGAAGAGCCAAGAGGAGATGGATCAAGCATTAGCAGAAAGCAGCGAAGAACAGGAAGATGCACTGAATATCTCCTCAATGTCTTTACTTGCACCATTGGCACAAACAGTTGGTGTGGTAAGTCCAGAG___AGTTTAGTGTCCACACCTAGACTGGAATTGAAAGACACCAGCAGAAGTGATGAAAGTCCAAAACCAGGAAAATTCCAAAGAACTCGTGTCCCTCGAGCTGAATCTGGTGATAGCCTTGGTTCTGAAGATCGTGATCTTCTTTACAG___CATTGATGCATATAGATCTCAAAGATTCAAAGAAACAGAACGTCCATCAATAAAGCAGGTGATTGTTCGGAAGGAAGATGTTACTTCAAAACTGGATGAAAAAAATAATGCCTTTCCTTGTCAAGTTAATATCAAACAGAAAATGCAG___GAACTCAATAACGAAATAAATATGCAACAGACAGTGATCTATCAAGCTAGCCAGGCTCTTAACTGCTGTGTTGATGAAGAACATGGAAAAGGGTCCCTAGAAGAAGCTGAAGCAGAAAGACTTCTTCTAATTGCAA___CTGGGAAGAGAACACTTTTGATTGATGAATTGAATAAATTGAAGAACGAAGGACCTCAGAGGAAGAATAAGGCTAGTCCCCAAAGTGAATTTATGCCATCCAAAGGATCAGTTACTTTGTCAGAAATCCGCTTGCCTCTAAAAGCAGATTTTGTCTGCAGTACGGTTCAGAAACCAG___ATGCAGCAAATTACTATTACTTAATTATACTAAAAGCAGGAGCTGAAAATATGGTAGCCACACCATTAGCAAGTACTTCAAACTCTCTTAACGGTGATGCTCTGACATTCACTACTACATTTACTCT___GCAAGATGTATCCAATGACTTTGAAATAAATATTGAAGTTTACAGCTTG___GTGCAAAAGAAAGATCCCTCAGGCCTTGATAAGAAGAAAAAAACATCCAAGTCCAAG___GCTATTACTCCAAAGCGACTCCTCACATCTATAACCACA___AAAAGCAACATTCATTCTTCAG___TCATGGCCAGTCCAGGAGGTCTTAGTGCTGTGCGAACCAGCAACTTCGCCCTTGTTGGATCTTACACATTATCATTGTCTTCAGTAGGAAATACTAAGTTTGTTCTGGACAAG___GTCCCCTTTTTATCTTCTTTGGAAGGTCATATTTATTTAAAAATAAAATGTCAAGTGAATTCCAGTGTTGAAGAAAGAGGTTTTCTA___ACCATATTTGAAGATGTTAGTGGTTTTGGTGCCTGGCATCGAAGATGGTGTGTTCTTTCTGGAAACTGTATATCTTATTGGACTTATCCAGATGATGAGAAACGCAAG___AATCCCATAGGAAGGATAAATCTGGCTAATTGTACCAGTCGTCAGATAGAACCAGCCAACAGAGAATTTTGTGCAAGACGCAACACTTTTGAATTAATTACTGTCCGACCACAAAGAGAAGATGACCGAGAGACTCTTGTCAGCCAATGCAGGGACACACTCTGTGTTACCAA___GAACTGGCTGTCTGCAGATACTAAAGAAGAGCGGGATCTCTGGATGCAAAAACTCAATCAAGTTCTTGTTGATATTCGCCTCTGGCAACCTGATGCTTGCTACAAACCTATTGGAAAGCCTTAAACCGGGAAATTTCCATGCTATCTAGAGGTTTTTGATGTCATCTTAAGAAACACACTTAAGAGCATCAGATTTACTGATTGCATTTTATGCTTTAAGTACGAAAGGGTTTGTGCCAATATTCACTACGTATTATGCAGTATTTATATCTTTTGTATGTAAAACTTTAACTGATTTCTGTCATTCATCAATGAGTAGAAGTAAATACATTATAGTTGATTTTGCTAAATCTTAATTTAAAAGCCTCATTTTCCTAGAAATCTAATTATTCAGTTATTCATGACAATATTTTTTTAAAAGTAAGAAATTCTGAGTTGTCTTCTTGGAGCTGTAGGTCTTGAAGCAGCAACGTCTTTCAGGGGTTGGAGACAGAAACCCATTCTCCAATCTCAGTAGTTTTTTCGAAAGGCTGTGATCATTTATTGATCGTGATATGACTTGTTACTAGGGTACTGAAAAAAATGTCTAAGGCCTTTACAGAAACATTTTTAGTAATGAGGATGAGAACTTTTTCAAATAGCAAATATATATTGGCTTAAAGCATGAGGCTGTCTTCAGAAAAGTGATGTGGACATAGGAGGCAATGTGTGAGACTTGGGGGTTCAATATTTTATATAGAAGAGTTAATAAGCACATGGTTTACATTTACTCAGCTACTATATATGCAGTGTGGTGCACATTTTCACAGAATTCTGGCTTCATTAAGATCATTATTTTTGCTGCGTAGCTTACAGACTTAGCATATTAGTTTTTTCTACTCCTACAAGTGTAAATTGAAAAATCTTTATATTAAAAAAGTAAACTGTTATGAAGCTGCTATGTACTAATAATACTTTGCTTGCCAAAGTGTTTGGGTTTTGTTGTTGTTTGTTTGTTTGTTTGTTTTTGGTTCATGAACAACAGTGTCTAGAAACCCATTTTGAAAGTGGAAAATTATTAAGTCACCTATCACCTTTAAACGCCTTTTTTTAAAATTATAAAATATTGTAAAGCAGGGTCTCAACTTTTAAATACACTTTGAACTTCTTCTCTGAATTATTAAAGTTCTTTATGACCTCATTTATAAACACTAAATTCTGTCACCTCCTGTCATTTTATTTTTTATTCATTCAAATGTATTTTTTCTTGTGCATATTATAAAAATATATTTTATGAGCTCTTACTCAAATAAATACCTGTAAATGTCTAAAGGAA)$ MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITMQPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHY|rGTGIKPFLERFGERCQEHSKESPARSTPHRTPIITPNTKAIQERLFKQDTSSSTTHLAQQLKQERQKELACLRGRFDKGNIWSAEKGGNSKSKQLETKQETHCQSTPLKKHQGVSKTQSLPVTEKVTENQIPAKNSSTEPKEVIREIEMSVDDDDINSSKVINDLFSDVLEEGELDMEKSQEEMDQALAESSEEQEDALNISSMSLLAPLAQTVGVVSPESLVSTPRLELKDTSRSDESPKPGKFQRTRVPRAESGDSLGSEDRDLLYSIDAYRSQRFKETERPSIKQVIVRKEDVTSKLDEKNNAFPCQVNIKQKMQELNNEINMQQTVIYQASQALNCCVDEEHGKGSLEEAEAERLLLIATGKRTLLIDELNKLKNEGPQRKNKASPQSEFMPSKGSVTLSEIRLPLKADFVCSTVQKPDAANYYYLIILKAGAENMVATPLASTSNSLNGDALTFTTTFTLQDVSNDFEINIEVYSLVQKKDPSGLDKKKKTSKSKAITPKRLLTSITTKSNIHSSVMASPGGLSAVRTSNFALVGSYTLSLSSVGNTKFVLDKVPFLSSLEGHIYLKIKCQVNSSVEERGFLTIFEDVSGFGAWHRRWCVLSGNCISYWTYPDDEKRKNPIGRINLANCTSRQIEPANREFCARRNTFELITVRPQREDDRETLVSQCRDTLCVTKNWLSADTKEERDLWMQKLNQVLVDIRLWQPDACYKPIGKP* 15BR003 ENSG00000106571.14 ENSG00000011426.11 -/- +/+ chr7:42148226 chr7:36415758 CDS/splice-site CDS/splice-site inversion 1 1 0 8 21 high out-of-frame . |Anillin_N-terminus(100%),Cell_division_protein_anillin(100%),PH_domain(100%) . . ENSG00000106571.14 ENSG00000011426.11 ENST00000395925.8 ENST00000396068.6 upstream upstream . ^(ACACTCGCACTCGCGCACACCCGCCGCTCCCACTCACCCGCGCCGCTCTCCCGCCTTCCCCGCGCGCCCCGCGGCCGCCCGCGCCGCACCATGCCCGCGGCGGGCGCACCCCGCGCCCAGCCCGGCCGCTCGCGGTAGCCGTAGCCGCCCGCGGCCGCGCGGAGCGGGGAGCCGCCAGCCTGCGCCCCGTCCGCGGGTCTATGGGAAGTTCGGGGACTTGACAGCCGCTGCCGCCGCAG___GGCATTTTTGGTCGAAGAGAGCTGAAGTAATGAGAAGACATCATGGAGGCCCAGTCCCACAGCTCCACGACCACTGAAAAGAAAAAAGTTGAGAATTCCATAGTGAAGTGCTCCACTCGAACAGATGTGAGCGAGAAAGCCGTTGCCTCCAGCACCACTTCTAATG___AGGATGAAAGTCCTGGACAGACTTATCACAGAGAGAGAAGAAACGCAATCACTATGCAGCCACAGAATGTCCAGGGGCTCAGCAAAGTCAGTGAGGAACCTTCAACATCGAGTGACGAGAGGG)CCTCATTGATCAAGAAAGAGATCCATGGGTCCCTGCCACACGTGGCGGAGCCCTCTGTGCCGTACCGCGGGACGGTGTTTGCCATGGACCCCAGGAATGGTTACATGGAGCCCCACTACC|GAAACTCACTGTCAGAGCACTCCCCTCAAAAAACACCAAGGTGTTTCAAAAACTCAGTCACTTCCAGTAACAGAAAAGGTGACCGAAAACCAGATACCAGCCAAAAATTC(TAGTACAGAACCTAAAG___AAGTGATACGTGAAATTGAGATGAGTGTGGATGATGATGATATCAATAGTTCGAAAGTAATTAATGACCTCTTCAGTGATGTCCTAGAGGAAGGTGAACTAGATATGGAGAAGAGCCAAGAGGAGATGGATCAAGCATTAGCAGAAAGCAGCGAAGAACAGGAAGATGCACTGAATATCTCCTCAATGTCTTTACTTGCACCATTGGCACAAACAGTTGGTGTGGTAAGTCCAGAG___AGTTTAGTGTCCACACCTAGACTGGAATTGAAAGACACCAGCAGAAGTGATGAAAGTCCAAAACCAGGAAAATTCCAAAGAACTCGTGTCCCTCGAGCTGAATCTGGTGATAGCCTTGGTTCTGAAGATCGTGATCTTCTTTACAG___CATTGATGCATATAGATCTCAAAGATTCAAAGAAACAGAACGTCCATCAATAAAGCAGGTGATTGTTCGGAAGGAAGATGTTACTTCAAAACTGGATGAAAAAAATAATGCCTTTCCTTGTCAAGTTAATATCAAACAGAAAATGCAG___GAACTCAATAACGAAATAAATATGCAACAGACAGTGATCTATCAAGCTAGCCAGGCTCTTAACTGCTGTGTTGATGAAGAACATGGAAAAGGGTCCCTAGAAGAAGCTGAAGCAGAAAGACTTCTTCTAATTGCAA___CTGGGAAGAGAACACTTTTGATTGATGAATTGAATAAATTGAAGAACGAAGGACCTCAGAGGAAGAATAAGGCTAGTCCCCAAAGTGAATTTATGCCATCCAAAGGATCAGTTACTTTGTCAGAAATCCGCTTGCCTCTAAAAGCAGATTTTGTCTGCAGTACGGTTCAGAAACCAG___ATGCAGCAAATTACTATTACTTAATTATACTAAAAGCAGGAGCTGAAAATATGGTAGCCACACCATTAGCAAGTACTTCAAACTCTCTTAACGGTGATGCTCTGACATTCACTACTACATTTACTCT___GCAAGATGTATCCAATGACTTTGAAATAAATATTGAAGTTTACAGCTTG___GTGCAAAAGAAAGATCCCTCAGGCCTTGATAAGAAGAAAAAAACATCCAAGTCCAAG___GCTATTACTCCAAAGCGACTCCTCACATCTATAACCACA___AAAAGCAACATTCATTCTTCAG___TCATGGCCAGTCCAGGAGGTCTTAGTGCTGTGCGAACCAGCAACTTCGCCCTTGTTGGATCTTACACATTATCATTGTCTTCAGTAGGAAATACTAAGTTTGTTCTGGACAAG___GTCCCCTTTTTATCTTCTTTGGAAGGTCATATTTATTTAAAAATAAAATGTCAAGTGAATTCCAGTGTTGAAGAAAGAGGTTTTCTA___ACCATATTTGAAGATGTTAGTGGTTTTGGTGCCTGGCATCGAAGATGGTGTGTTCTTTCTGGAAACTGTATATCTTATTGGACTTATCCAGATGATGAGAAACGCAAG___AATCCCATAGGAAGGATAAATCTGGCTAATTGTACCAGTCGTCAGATAGAACCAGCCAACAGAGAATTTTGTGCAAGACGCAACACTTTTGAATTAATTACTGTCCGACCACAAAGAGAAGATGACCGAGAGACTCTTGTCAGCCAATGCAGGGACACACTCTGTGTTACCAA___GAACTGGCTGTCTGCAGATACTAAAGAAGAGCGGGATCTCTGGATGCAAAAACTCAATCAAGTTCTTGTTGATATTCGCCTCTGGCAACCTGATGCTTGCTACAAACCTATTGGAAAGCCTTAAACCGGGAAATTTCCATGCTATCTAGAGGTTTTTGATGTCATCTTAAGAAACACACTTAAGAGCATCAGATTTACTGATTGCATTTTATGCTTTAAGTACGAAAGGGTTTGTGCCAATATTCACTACGTATTATGCAGTATTTATATCTTTTGTATGTAAAACTTTAACTGATTTCTGTCATTCATCAATGAGTAGAAGTAAATACATTATAGTTGATTTTGCTAAATCTTAATTTAAAAGCCTCATTTTCCTAGAAATCTAATTATTCAGTTATTCATGACAATATTTTTTTAAAAGTAAGAAATTCTGAGTTGTCTTCTTGGAGCTGTAGGTCTTGAAGCAGCAACGTCTTTCAGGGGTTGGAGACAGAAACCCATTCTCCAATCTCAGTAGTTTTTTCGAAAGGCTGTGATCATTTATTGATCGTGATATGACTTGTTACTAGGGTACTGAAAAAAATGTCTAAGGCCTTTACAGAAACATTTTTAGTAATGAGGATGAGAACTTTTTCAAATAGCAAATATATATTGGCTTAAAGCATGAGGCTGTCTTCAGAAAAGTGATGTGGACATAGGAGGCAATGTGTGAGACTTGGGGGTTCAATATTTTATATAGAAGAGTTAATAAGCACATGGTTTACATTTACTCAGCTACTATATATGCAGTGTGGTGCACATTTTCACAGAATTCTGGCTTCATTAAGATCATTATTTTTGCTGCGTAGCTTACAGACTTAGCATATTAGTTTTTTCTACTCCTACAAGTGTAAATTGAAAAATCTTTATATTAAAAAAGTAAACTGTTATGAAGCTGCTATGTACTAATAATACTTTGCTTGCCAAAGTGTTTGGGTTTTGTTGTTGTTTGTTTGTTTGTTTGTTTTTGGTTCATGAACAACAGTGTCTAGAAACCCATTTTGAAAGTGGAAAATTATTAAGTCACCTATCACCTTTAAACGCCTTTTTTTAAAATTATAAAATATTGTAAAGCAGGGTCTCAACTTTTAAATACACTTTGAACTTCTTCTCTGAATTATTAAAGTTCTTTATGACCTCATTTATAAACACTAAATTCTGTCACCTCCTGTCATTTTATTTTTTATTCATTCAAATGTATTTTTTCTTGTGCATATTATAAAAATATATTTTATGAGCTCTTACTCAAATAAATACCTGTAAATGTCTAAAGGAA)$ MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITMQPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHY|rnslsehspqktprcfknsvtssnrkgdrkpdtsqkf* 15BR003 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 1 2 0 187 17 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___)ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___AAC(GTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 15BR003 ENSG00000177694.16 ENSG00000237501.1(12876),ENSG00000144962.7(45252) +/+ ./+ chr3:174859450 chr3:172844105 CDS/splice-site intergenic duplication 2 1 0 25 1 high out-of-frame . . . . ENSG00000177694.16 . ENST00000454872.6 . downstream upstream . ^AGAAGGTCACAAAGCTTGCAGGGTAAGTGACACAACTTGAAACTGCTTGGCCCTCTTTAAAAAGAAATAATAAAATGGGAGAGAATGAAGCAAGTTTACCTAACACGTCTTTGCAAG|TTTCAACATGTAGTGCATTATCGTATCAGATCCCCACATTATTATATGAAAATGTCTTCTAAGAGTGCTGAAAAGCCTGTGAAGAAGTACGAGCCTGTGAATTGCTGAACGCTATTGACAAAG___ATAATGGTTCATAGCCATGCACCTCTAGTGTCTCAAGATCCAAAAAGAGATGAGCGTACATAAGATCCTTGGACTTGAAAACAGGTGAACCACAGGCATTTGACGCTCC MGENEASLPNTSLQ|vstcsalsyqiptllyenvf* 15BR003 ENSG00000185630.19 ENSG00000201987.1(30210),ENSG00000225487.2(36776) +/+ ./+ chr1:164821626 chr1:164884542 CDS/splice-site intergenic deletion/read-through 4 6 0 261 12 medium stop-codon . Homeobox_domain(100%),PBC_domain(100%)| . . ENSG00000185630.19 . ENST00000367897.5 . downstream upstream . ^(ATGGACGAGCAGCCCAGGCTGATGCATTCCCATGCTGGGGTCGGGATGGCCGGACACCCCGGCCTGTCCCAGCACTTGCAGGATGGGGCCGGAGGGACCGAGGGGGAGGGCGGGAGGAAGCAGGACATTGGAGACATTTTACAGCAAATTATGACCATCACAGACCAGAGTTTGGATGAGGCGCAGGCCAG___AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTGTTGTGTGAAATCAAAGAAAAAACAG___TTTTGAGTATCCGAGGAGCCCAGGAGGAGGAACCCACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCTGAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGTTCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATCTACCATACGGAGCTGGAGAAATACGAGCAG___GCCTGCAACGAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATGGTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGCGAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG___GCGGAAGAGACGGAATTTCAACAAGCAAGCGACAGAAATCCTGAATGAATATTTCTATTCCCATCTCAGCAACCCTTACCCCAGTGAGGAAGCCAAAGAGGAGTTAGCCAAGAAGTGTGGCATCACAGTCTCCCAG___GTATCAAACT)GGTTTGGAAATAAGCGAATCCGGTACAAGAAGAACATAGGTAAATTTCAAGAGGAAGCCAATATTTATGCTGCCAAAACAGCTGTCACTGCTACCAATGTGTCAGCCCATGGAAGCCAAGCTAACTCGCCCTCAACTCCCAACTCGGCTG___GTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGT|GAAATTGCAAGAACCTATTGATGGCTTGGATGCTCTGGTGGTGACAGCAAGTCCTCTTCTCTTGACTGAAGAAATGTCTTCCCCTATCTGAAAAGTGGCCTCTCTTCCGGAATGACACATACTGACTTTTGAAGAAGCAAAAGGATACCTGCTGGCCAGTCATATCAGCCAAAAAACTCTGGTGAGCAGTGAGTTGGCAGATGTTGCAACTGGAAGACTGTGGCATCAACAGAGCCCCAAAGCAATAATCTCTCTTTCTCTTCGCCCCCACTAATCCAGCAATCAAATAATCACTTTTAAGCATTTACTGTGC . 15BR003 ENSG00000164674.15 ENSG00000146416.19 +/- +/+ chr6:158663481 chr6:143060947 intron CDS inversion/3'-3' 6 1 0 24 82 medium . . |FAR-17a/AIG1-like_protein(100%) . . ENSG00000164674.15 ENSG00000146416.19 . ENST00000357847.9 upstream upstream . GTAAACTGGAAGCCTGAAAATGTCCCTTGAATGATTCCCACGAAGTCGGCAAACAGACAAGCAGATGGCAGACAGCAAACTTACCGCCCAAAGGCACCGTTTTAAATGAATAACAAGAGCGGCCTCCCTCCTCCTCCTGAGCGTCCTCTACGTTTAGTTACATAAGGAGGATCATCTCCACCAACAGACCTTCGTTAGGACCCTTCTCAGGCACGAAGCCCAGCAGCAG|GTGCTGCGGATGGCAATCCTGCTGTCTTACTGCTCTATCCTGTGTAACTACAAGGCCATCGAAATGCCCTCACACCAGAC(CTACGGAGGGAGCTGGAAATTCCTGACGTTCATTGATCTG___GTTATCCAGGCTGTCTTTTTTGGCATCTGTGTGCTGACTGATCTTTCCAGTCTTCTGACTCGAGGAAGTGGGAACCAGGAGCAAGAGAGGCAGCTCAAGAAGCTCATCTCTCTCCGGGACTGGATGTTAGCTGTGTTGGCCTTTCCTGTTGGGGTT___TTTGTTGTAGCAGTGTTCTGGATCATTTATGCCTATGACAGAGAGATGATATACCCGAAGCTGCTGGATAATTTTATCCCAGGGTGGCTGAATCACGGAATG___CACACGACGGTTCTGCCCTTTATATTAATCGAGATGAGGACATCGCACCATCAGTATCCCAGCAGGAGCAGCGGACTTACCGCCATATGTACCTTCTCTGTTGGCTATATATTATG___GGTGTGCTGGGTGCATCATGTAACTGGCATGTGGGTGTACCCTTTCCTGGAACACATTGGCCCAGGAGCCAGAATCATCTTCTTTGGGTCTACAACCATCTTAATGAACTTCCTGTACCTGCTGGGAGAAGTTCTGAACAACTATATCTGGGATACACAGAAAA___GTATGGAAGAAGAGAAAGAAAAGCCTAAATTGGAATGAGATCCAAGTCTAAACGCAAGAGCTAGATTGAGCCGCCATTGAAGACTCCTTCCCCTCGGGCATTGGCAGTGGGGGAGAAAAGGCTTCAAAGGAACTTGGTGGCATCAGCACCCCCCTCCCCCAATGAGGACACCTTTTATATATAAATATGTATAAACATAGAATACAGTTGTTTCCAAAAGAACTCACCCTCACTGTGTGTTAAAGAATTCTTCCCAAAGTCATTACTGATAATAACATTTTTTCCTTTTCTAGTTTTAAAACCAGAATTGGACCTTGGATTTTTATTTTGGCAATTGTAACTCCATCTAATCAAGAAAGAATAAAAGTTTATTGCACTTCTTTTTGAGAAATATGTTAAAGTCAAAGGGGCATATATAGAGTAAGGCTTTTGTGTATTTAATCCTAAAGGTGGCTGTAATCATGAACCTAGGCCACCATGGGGACCTGAGAGGGAAGGGGACAGATGTTTCTCATTGCATAATGTCACAGTTGCCTCAAATGAGCACCATTTGTAATAATGATGTCAATTTCATGAAAAGCCTGAGTGTATTGCATCTCTTGATTTAATCATGTGAAACTTTTCCTAGATGCAAATGCTGACTAATAAAGACAAAGCCACCCTGAACCTGACGTCTGCATTGTGCATCTCAAAATCCTAACAGCATTAGTATCTCCTTTTCATTTTTATTACCTGTTGAAAATGGGTTTACTGAACCTGGTTCTTTCCTATAATTTTTGGATTTTAAAAAATGTGAATCTTTTTGATAACTCCAAAACAAATTTTTTTTTTCTTTTTTTCCAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGTGATCTCAGCTCACGGCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCTGCCTTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACACGCCCGGCTTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAACCACCGCGCCCAGCCACAAAATTGTTTTTAAAAAAACTATTTTACAAAATCTTTGACCGTAATTATTTTTAAGATGAAAAATATGTTATATAAATTATAAAATGTTACTTAACACAAATATAAGTATTGATTGCCCAATGTTGAGAGAGATCAACAAATGATATAAAACCATTCACTCCAAAATTATAATTACATTTTAAAATTAAAAAATGAAAAGCATTAAACTTTTTAATTTGAAAAAAATTTAAACTCAAAAAGTTAATTTAAAATTAGTTACATTTAAATGTAATTAAATGCTAAAAATCTCTCTTC)$ . 15BR003 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 3 0 0 136 17 medium . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000560197.5 upstream downstream duplicates(1),mismappers(3) GACGACAACAAGGACAGGTCAGTTCTCCACGTCCCTGAGAGGCTAAGATGCTTACATCTCTTGTCACACTCCTGAATGTGGCAGGTCCGTGTCTGGACCGAGGAGCCCTCACATCGGTTGTTGAGGCTATCGCAGGAGCGGCCGCGCTGCTGAATTCCATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAG(AGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 15BR003 ENSG00000161551.14 ENSG00000269483.2 -/- -/- chr19:51877282 chr19:51843315 CDS/splice-site exon deletion/read-through 2 1 0 118 18 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000269483.2 ENST00000301399.11 ENST00000594725.2 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACC)AAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTTTATCATCATTCAATGATGTGGCTGTTGACTTCACCTGGGAGGAGTGGAATCTATTAGACCCTGTTCAGAAGAACCTCTAC(CAGGATGTGATGTTGGAAAATTACAACAACCTAGTGTCACTGG___GTTGTCAAGCTACCAAGCCAGAAGCAATATTCCAGT)$ MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gfiiiq* 16BR012 ENSG00000010244.18 ENSG00000176658.17 +/+ -/+ chr17:32351912 chr17:32780710 CDS/splice-site CDS deletion/5'-5' 28 10 1 423 113 high out-of-frame . . . . ENSG00000010244.18 ENSG00000176658.17 ENST00000394670.8 . downstream upstream duplicates(3),mismatches(1) ^(ACCGCAGTGCTTGACGGGAGGCGGAGCGGGGAACGAGGCCGTCGGCCATTTTGTGTCTG)CTTCCTGTGGGACGTGGTGGTAGCCGTTGGGTTGGGAAAGTGAGGGATTTTTGGCCTCGTTTCTCCTGCTTCTTTTCTCCTCCCTTTTACTTTGCCGGTAGAACACAGTTATGGGTCGCAAGAAGAAGAAGCAGCTGAAGCCGTGGTGCTG___GTATTGTAATAGAGATTTTGATGATGAGAAGATCCTTATTCAGCACCAAAAAGCAAAGCATTTTAAATGCCATATATGTCACAAGAAATTGTATACAGGACCTGGCTTAGCTATTCATTGCATGCAG|ATGTTCAACAACTTGTAAGGGTTCACAGAAACGACGACTTCTCCAATGAACGTATAGATGCGCCCTTTTTCAAATCTGTACAGAAGCAAAAGAAAAGGAAGACGTAGCTGTGGTTACgGAGAAATGATGTATCTGTCCT___AATTAAACCCGATCCCCTGAACACAAAGTGAACAACACCAAG MGRKKKKQLKPWCWYCNRDFDDEKILIQHQKAKHFKCHICHKKLYTGPGLAIHCMQ|mfnnl* 16BR012 ENSG00000265794.5 ENSG00000176658.17 +/+ -/+ chr17:32351912 chr17:32780710 exon/splice-site CDS deletion/5'-5' 27 10 1 423 113 high . . . . . ENSG00000265794.5 ENSG00000176658.17 ENST00000581915.5 . downstream upstream duplicates(3),mismatches(1) ^(ATCATTCATGTTGCTCCCCGTGCTGGCTGGAAAGCACGGTTCTCCTCTGCCTTAAAAACAGTGCCCAACAGTGAACTGCCCCTCCGAGGACTTGA___)AACACAGTTATGGGTCGCAAGAAGAAGAAGCAGCTGAAGCCGTGGTGCTG___GTATTGTAATAGAGATTTTGATGATGAGAAGATCCTTATTCAGCACCAAAAAGCAAAGCATTTTAAATGCCATATATGTCACAAGAAATTGTATACAGGACCTGGCTTAGCTATTCATTGCATGCAG|ATGTTCAACAACTTGTAAGGGTTCACAGAAACGACGACTTCTCCAATGAACGTATAGATGCGCCCTTTTTCAAATCTGTACAGAAGCAAAAGAAAAGGAAGACGTAGCTGTGGTTACgGAGAAATGATGTATCTGTCCT___AATTAAACCCGATCCCCTGAACACAAAGTGAACAACACCAAG . 16BR012 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 13 0 54 37 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(3) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGAT)GTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 16BR012 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 13 4 0 152 43 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCA)GGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 16BR012 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 5 10 0 23 11 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCC)CGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAA...ATGGCCACTCAGACTCCTGCTGGATGCCGGTCCGCACTTCTCCGGAGAGGAAGAAGAGCCAGCCTAAACTGTCCACTTTCATGCCTGTTGATGAACGAGGAAGCCAGGAAAAGCTGGCCAATGGGGAGGCCGCCATCATGGGTGACCGC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpedny 16BR012 ENSG00000184640.18 ENSG00000167900.12 +/+ -/+ chr17:77307197 chr17:78185032 CDS/splice-site intron deletion/5'-5' 3 9 0 82 125 high out-of-frame . . . . ENSG00000184640.18 ENSG00000167900.12 ENST00000427177.6 . downstream upstream . ^GCCACACTTTCCTGGGAGCGGCGGCCACGGAGGCACCATGAAGAAGTCTTACTCAG___GAGGCACGCGGACCTCCAGTGGCCGGCTCCGGAGGCTTGGTGACTCCAGTGGCCCAG|GACTGCAGGGGGCAGGGACTGACCGGTCATGTGTGCAGAAGCTGCTGCTGTAGCGAGTGTCTTTGGCATACTTGATCACCAGGCACTTGTACTGAGCAATCTGGAAGCGACGGACGCGTCTCATCAACTCTGTGCTGCAAGAGGAGAGAGGGTCAGGTGAGGTCCACGGCGGGAGGAGTGGGAGAAGGAGACCCCTCCCCAACAAGCCTGGCTCCTCATTGTCCCTAGTGGTATGCAGACTGAGCCCAC MKKSYSGGTRTSSGRLRRLGDSSGP|glqgagtdrscvqklll* 16BR012 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 7 4 0 14 21 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismappers(1) AGGTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGT(CCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 16BR012 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 7 0 21 48 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(4) CAAACAGCTGTTCCCAGAGACGTCTCCGCTCTaAACTTTGCCcACTACTaCGCACGCACTTTGACCAGCGGAGCAACCGGGACCTGTGGGTCGGGGTCCaCgGGCGGAGTTAAAAAAAAAAGAGGTGAAACTGCGGGACCGGCGCTGCG...CCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC------AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACC(TAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 16BR012 ENSG00000214719.13 ENSG00000108684.14 +/+ -/- chr17:30610942 chr17:33088990 exon/splice-site CDS/splice-site inversion 5 1 0 32 11 high . . |Amiloride-sensitive_sodium_channel(100%) . . ENSG00000214719.13 ENSG00000108684.14 ENST00000578265.5 ENST00000359872.6 downstream downstream duplicates(1),mismatches(1) ^(TCTGCAAGAGTCCTGCTCGTTCAAGGCCTGCATACAGGAAAGAAGCAGGGGAAAAGCGTTAGAAACAGCTTTTGTTCTACAGCATTTTAAAATATAATAG___GTATA)TTGAAAAGTCTGATTCAGTTACAATCAGTGTATGGAATCACAAGAAGATCCATAAGAAACAAGGTGCTGGATTTCTCCGTTGTGTTCGTCTTTTTCCAGTGCCATCAACCACCTCAAAGACACTGGTT___ATCAGAGGTTGGATTTATGCAAACTTGGGCCAAAGGACAGTTAGAAGACAGTAG|AGGAAACGACATTTGAAGCAGGAGTGAAAGTTCAGATCCACAGTCAGTCTGAGCCACCTTTCATCCAAGAGCTGGGCTTTGGGGTGGCTCCAGGGTTCCAGACCTTTGTGGCCACACAGGAGCAGAGG___CTCACATACCTGCCCCCACCGTGGGGTGAGTGCCGATCCTCAGAGATG(GGCCTCGACTTTTTTCCTGTTTACAGCATCACCGCCTGTAGGATTGACTGTGAGACCCGCTACATTGTGGAAAACTGCAACTGCCGCATGGTTCACATGCCAG___GGGATGCCCCTTTTTGTACCCCTGAGCAGCACAAGGAGTGTGCAGAGCCTGCCCTAG___GTCTGTTGGCGGAAAAGGACAGCAATTACTGTCTCTGCAGGACACCCTGCAACCTAACCCGCTACAACAAAGAGCTCTCCATGGTGAAGATCCCCAGCAAGACATCAGCCAAGTACCTTGAGAAGAAATTTAACAAATCAGAAAAATATATCTC___AGAGAACATCCTTGTTCTGGATATATTTTTTGAAGCTCTCAATTATGAGACAATTGAACAGAAGAAGGCGTATGAAGTTGCTGCCTTACTTG___GTGATATTGGTGGTCAGATGGGATTGTTCATTGGTGCTAGTATCCTTACAATACTAGAGCTCTTTGATTATATTTATGAG___CTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTG___AGTACTTGTGACACAATGCCAAACCACTCTGAAACCATCAGTCACACTGTGAACGTGCCCCTGCAGACGACCCTGGGGACCTTGGAGGAGATTGCCTGCTGACACCCCTCGAGTCACCCAGCACTCCCTCCAAACAGACCTTGAGGCCCAAGACCCAGGACAAGGAACAGCAAGCTCAGGTGGGATGGCCCCAGTGCTGGAAAGAAGCAAGAGCCCCCTATGCACACATTGCAGACTAGCTGCCTAGACCTCGCTCCGGCCACGTCCAACACGACGCATCCTTGGGCCCCGCCGTGCGTCCCTCTTAGGAGAGATGAGTCACACTCTGGAACTGTCCAAGAACGAACCTGCCATCACATCTCACTGCCAGATGTATAAAGCACCTGCATGCTCAGACTTCTTGTGGCGCCACCTCCACGTCTGTCTTGTACATGACACTCCTCCACGCGGTTTCCAGTGTCCACACTGCTGCCCGTGCAGTGGGACCAGATTCCAGGTCCAAAGTCACCATGAGGCCACCCTGGAATCAGAACTGCACAATCAAGAGGGAACCCATGGGACTCTCTGCTACATTCAGTTCTTGTGTCGTTTGTGAAAGTTCTTAACCTGCCCAAAAACCCCCTTTTCCCCAAGCTGCCCATGGGGCTTCGGCGCCAAAGGTGACCCGCGCCAACCTCCCTCCCCCCCAGTGCCTATGACGGCGGCACAGCAGCCAGCGGGTGGGGGACGCCTGTGTTCACCCATGGTGCCCATGTCGTTCTTCTCTCCCTGTGACACAGCTTGTACAGTCTGATTCTTTTTATCTGGGGTAGGGGGGCTTTTATGTTTGTCCGATGGAGATTTGTTTTGTTTTGCTTCATTTTATGCTTTTTTATTTTAGTTTTGATGTTCTGAGGTTTGCTTTGGTTTTTCCATTTTCTTTGGCATTTATTTATTCGTGCTTCAAATCACAGTCATATTAAAAGCTGGTCTTGTGGAAA)$ . 16BR012 ENSG00000248121.8 ENSG00000108684.14 +/+ -/- chr17:30610942 chr17:33088990 exon/splice-site CDS/splice-site inversion 5 1 0 32 11 high . . |Amiloride-sensitive_sodium_channel(100%) . . ENSG00000248121.8 ENSG00000108684.14 ENST00000579301.5 ENST00000359872.6 downstream downstream duplicates(1),mismatches(1) ^(CCGCCGCGCTTCGACGTCGCCCCTGTCCCCGTCCCGCCCGCCGCCCCCGCCAACCCCGCCGCCGGGGACATGTCCAACCCCTGAAGCCGGAGGAACGGGCCAGTCAGACTGCGCCCGACAG___GGGGTACTTTTCTAACTATGTGCTCATACAAACTTTAGAGCAAACTTTCTCTTACTCTCCCCACCCTCCCCCTTCCTTTTTCTAAATGGAAAATAATGTCCGGAGGGGTTGCTAGATAGAAGACTACACTTACAAAGTGTTTATGATTCCAGGCGCATGAAATCTTTAACATTACAG___GTATA)TTGAAAAGTCTGATTCAGTTACAATCAGTGTATGGAATCACAAGAAGATCCATAAGAAACAAGGTGCTGGATTTCTCCGTTGTGTTCGTCTTTTTCCAGTGCCATCAACCACCTCAAAGACACTGGTT___ATCAGAGGTTGGATTTATGCAAACTTGGGCCAAAGGACAGTTAGAAGACAGTAG|AGGAAACGACATTTGAAGCAGGAGTGAAAGTTCAGATCCACAGTCAGTCTGAGCCACCTTTCATCCAAGAGCTGGGCTTTGGGGTGGCTCCAGGGTTCCAGACCTTTGTGGCCACACAGGAGCAGAGG___CTCACATACCTGCCCCCACCGTGGGGTGAGTGCCGATCCTCAGAGATG(GGCCTCGACTTTTTTCCTGTTTACAGCATCACCGCCTGTAGGATTGACTGTGAGACCCGCTACATTGTGGAAAACTGCAACTGCCGCATGGTTCACATGCCAG___GGGATGCCCCTTTTTGTACCCCTGAGCAGCACAAGGAGTGTGCAGAGCCTGCCCTAG___GTCTGTTGGCGGAAAAGGACAGCAATTACTGTCTCTGCAGGACACCCTGCAACCTAACCCGCTACAACAAAGAGCTCTCCATGGTGAAGATCCCCAGCAAGACATCAGCCAAGTACCTTGAGAAGAAATTTAACAAATCAGAAAAATATATCTC___AGAGAACATCCTTGTTCTGGATATATTTTTTGAAGCTCTCAATTATGAGACAATTGAACAGAAGAAGGCGTATGAAGTTGCTGCCTTACTTG___GTGATATTGGTGGTCAGATGGGATTGTTCATTGGTGCTAGTATCCTTACAATACTAGAGCTCTTTGATTATATTTATGAG___CTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTG___AGTACTTGTGACACAATGCCAAACCACTCTGAAACCATCAGTCACACTGTGAACGTGCCCCTGCAGACGACCCTGGGGACCTTGGAGGAGATTGCCTGCTGACACCCCTCGAGTCACCCAGCACTCCCTCCAAACAGACCTTGAGGCCCAAGACCCAGGACAAGGAACAGCAAGCTCAGGTGGGATGGCCCCAGTGCTGGAAAGAAGCAAGAGCCCCCTATGCACACATTGCAGACTAGCTGCCTAGACCTCGCTCCGGCCACGTCCAACACGACGCATCCTTGGGCCCCGCCGTGCGTCCCTCTTAGGAGAGATGAGTCACACTCTGGAACTGTCCAAGAACGAACCTGCCATCACATCTCACTGCCAGATGTATAAAGCACCTGCATGCTCAGACTTCTTGTGGCGCCACCTCCACGTCTGTCTTGTACATGACACTCCTCCACGCGGTTTCCAGTGTCCACACTGCTGCCCGTGCAGTGGGACCAGATTCCAGGTCCAAAGTCACCATGAGGCCACCCTGGAATCAGAACTGCACAATCAAGAGGGAACCCATGGGACTCTCTGCTACATTCAGTTCTTGTGTCGTTTGTGAAAGTTCTTAACCTGCCCAAAAACCCCCTTTTCCCCAAGCTGCCCATGGGGCTTCGGCGCCAAAGGTGACCCGCGCCAACCTCCCTCCCCCCCAGTGCCTATGACGGCGGCACAGCAGCCAGCGGGTGGGGGACGCCTGTGTTCACCCATGGTGCCCATGTCGTTCTTCTCTCCCTGTGACACAGCTTGTACAGTCTGATTCTTTTTATCTGGGGTAGGGGGGCTTTTATGTTTGTCCGATGGAGATTTGTTTTGTTTTGCTTCATTTTATGCTTTTTTATTTTAGTTTTGATGTTCTGAGGTTTGCTTTGGTTTTTCCATTTTCTTTGGCATTTATTTATTCGTGCTTCAAATCACAGTCATATTAAAAGCTGGTCTTGTGGAAA)$ . 16BR012 ENSG00000184640.18 ENSG00000183077.15 +/+ +/+ chr17:77307197 chr17:78190970 CDS/splice-site CDS/splice-site deletion 2 3 0 82 164 high out-of-frame . |alpha/beta_hydrolase_fold(100%) . . ENSG00000184640.18 ENSG00000183077.15 ENST00000427177.6 ENST00000588800.5 downstream upstream . ^GCCACACTTTCCTGGGAGCGGCGGCCACGGAGGCACCATGAAGAAGTCTTACTCAG___GAGGCACGCGGACCTCCAGTGGCCGGCTCCGGAGGCTTGGTGACTCCAGTGGCCCAG|GAGCTGGAGAATCAGTACTGTCCCAGCCGATGGGTTGTCCGACTGGGAGCAGAGGAAGCCTTGAGGACCTACTCACAGATAGGAATTGAAG(___CCTTGCCTTTCTTCCTGTTCTTTCACGGAGGATACTGGCAGAGCGGAAG___ACCCTGTGTCAAGGAGAGTGGAAAGCCTCATTTGAAGAGCTCCACGATGTGGACCACTTTGAAATTGTTGAGAATCTGACCCAGAAGGACAACGTGCTCACCCAG___ATTATCTTGAAAACAATCTTCCAGTAGTTCTGACGATACTTGGAGCCTGGTCCACGTGCATCCCACCTTGGGAAGCCTCTCCAAAGAGCTTTCGGAGCTGACACTGACAGCTTCAGTTTCCCCCAGCACCCAGGAGAGCCTTGCTGTGTCTGTCTGCCCGGCAAGAGTCCATTCTCACTGCTGGGACACTCATGAAAATCTCCACGTCCTCCCTCTTCCCAGCCTGGATGGAGCTCCAGGGCTGGGGAACGTCCGCAAGTCAATGCTCAGAGATGCCCGGAGCTGCCTCTTAGACTCGTCTGGCCCATCTACCTGCTGACAGAGCATGAC)$ MKKSYSGGTRTSSGRLRRLGDSSGP|gagesvlsqpmgcptgsrgsledlltdrn* 16BR012 ENSG00000120063.10 ENSG00000265313.7 -/- -/- chr17:65053502 chr17:59526980 CDS/splice-site exon deletion 0 3 1 91 12 high out-of-frame . G-protein_alpha_subunit(100%)| . . ENSG00000120063.10 ENSG00000265313.7 ENST00000439174.7 ENST00000577478.2 upstream downstream . ^(AGTTCGCTGGTTCCCTCCCTCCCTGGGCGCGCTCGGGCCGCCGCCGCGCTCCCCGCCCTCGAGCCTCGGTGCCGGAGCCGCCCGCCGCCGGAGGAGGAGGTGGAGGGAGCCGGAGGGGCCCGCCGAGGCGGCGGCGGCGGCGGCAAGATGGCGGACTTCCTGCCGTCGCGGTCCGTGCTGTCCGTGTGCTTCCCCGGCTGCCTGCTGACGAGTGGCGAGGCCGAGCAGCAACGCAAGTCCAAGGAGATCGACAAATGCCTGTCTCGGGAAAAGACCTATGTGAAGCGGCTGGTGAAGATCCTGCTGCTGGGCGCGGGCGAGAGCGGCAAGTCCACCTTCCTGAAGCAGATGCGGATCATCCACGGGCAGGACTTCGACCAGCGCGCGCGCGAGGAGTTCCGCCCCACCATCTACAGCAACGTGATCAAAG___GTATGAGGGTGCTGGTTGATGCTCGAGAGAAGCTTCATATTCCCTGGGGAGACAACTCAAACCAACAACATGGAGATAA)GATGATGTCGTTTGATACCCGGGCCCCCATGGCAGCCCAAGGAATGGTGGAAACAAGGGTTTTCTTACAATATCTTCCTGCTATAAGAGCATTATGGGCAGACAGCGGCATACAGAATGCCTATGACCGGCGTCGAGAATTTCAACTG|ATACCAACCATCTGGCCCTAAAACAAATCTCATCAGTTTATGAACCAGGCAGCCCAATCACAGTGCCTAATTCTCCCTATCACACAATTGGTCAAGGAGGGAGCAAGTGACATAATCTAAATTCTTTCCAAAGATGGATGCAAATGCTGGGAAAGCAAGAGTTGAATTGCTAGCCATGAGGAAAACGTAAGCCTGAGCTGTTTGCTGGCCATCTTTGCTTCCACATGGGGATGGCCTGCCTGGAAATGAAGCCACACAGAGAAAACAGAAGAGCAGTGAAGAGAAGGGTAAAAGGAGAG(ATCCCATGACATGATTTGCACTCTTAGATCCAGTTATGCCTGATGCAGGACCCACCCCTTGGACTTCCCATTTCCAGGAGCTAAAACTAGACTGAGTTGAGTTTCTGTCACTGACAGTTGACAGAAAATATCAACAATCCAGCCACATGGAGCCTCATGGCAGTACCACTAACCCTGGTCACCACATGAATACTGACCAGAG___GCATTTCACCTGAATCAACTGTTTGTGTTCTTAACTCCATCTCCTCATCTGCTTCCTGGAAGACCCAACTGACATAGATGGTTACAAGAAATGATTTCCTCCTTATAAAACTCTAG___ATGTCAATGTGATCTTTCACAAGCACACTGAAAAATTCACACCGTGGAAAAGAACTAAAGTCCCATCCTAATTCATCAGAGCCTTCTGTTTCCTGTAACAAAGAAGAACTCACAAGATCAGGATTCCAAG___GTATATATCTAGAAGTGGAAGTGCTGGGTTATACG___TTGCTGTCTCCTTGATCTGGAAGCTTGTCCCTCCTTGTAACACCTGGCAGGCATTGTCTCTTCTGGAAAGACTTTACGCCACTGCCCTCTTTTGCTGCCCTTTGA___CAACTGCAACTGAACTCCTCTGTTCTGATAAATTATATTGCCCCAGCTTCCTCATTTTATATTGCTGACCATGTATCTTCTCCTGAAGACCAAATACGAAGAAATACACAAG___CTTCTTGTATAGAAGATACCTAAAAAGTGTTTGCTGAATGAAGAAATAAAGGATTGCTCAGGCACCACTGGCACTTTAAGTTGTTCAGCAAGTACTCGTGCCTCTTAAGAACTGGCCAAGGGCCGGGCGTGGTGGTTCATGCCTGTAATCCCAGCATTTTGGGACGCCGAGGCGGGCAGATCACGAAGTCAGGAGTTCGAGACCAGCGTGGCCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAA)$ MADFLPSRSVLSVCFPGCLLTSGEAEQQRKSKEIDKCLSREKTYVKRLVKILLLGAGESGKSTFLKQMRIIHGQDFDQRAREEFRPTIYSNVIKGMRVLVDAREKLHIPWGDNSNQQHGDKMMSFDTRAPMAAQGMVETRVFLQYLPAIRALWADSGIQNAYDRRREFQL|iptiwp* 16BR012 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 6 6 0 18 603 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream low_entropy(1) ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTG)CCCAGCGGGaTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGG(CATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 16BR012 ENSG00000120063.10 ENSG00000265313.7(108),ENSG00000200889.1(10379) -/- ./- chr17:65053502 chr17:59526980 CDS/splice-site intergenic deletion 5 0 0 91 12 medium out-of-frame . G-protein_alpha_subunit(100%)| . . ENSG00000120063.10 . ENST00000439174.7 . upstream downstream duplicates(1) ^(AGTTCGCTGGTTCCCTCCCTCCCTGGGCGCGCTCGGGCCGCCGCCGCGCTCCCCGCCCTCGAGCCTCGGTGCCGGAGCCGCCCGCCGCCGGAGGAGGAGGTGGAGGGAGCCGGAGGGGCCCGCCGAGGCGGCGGCGGCGGCGGCAAGATGGCGGACTTCCTGCCGTCGCGGTCCGTGCTGTCCGTGTGCTTCCCCGGCTGCCTGCTGACGAGTGGCGAGGCCGAGCAGCAACGCAAGTCCAAGGAGATCGACAAATGCCTGTCTCGGGAAAAGACCTATGTGAAGCGGCTGGTGAAGATCCTGCTGCTGGGCGCGGGCGAGAGCGGCAAGTCCACCTTCCTGAAGCAGATGCGGATCATCCACGGGCAGGACTTCGACCAGCGCGCGCGCGAGGAGTTCCGCCCCACCATCTACAGCAACGTGATCAAAG___GTATGAGGGTGCTGGTTGA)TGCTCGAGAGAAGCTTCATATTCCCTGGGGAGACAACTCAAACCAACAACATGGAGATAAGATGATGTCGTTTGATACCCGGGCCCCCATGGCAGCCCAAGGAATGGTGGAAACAAGGGTTTTCTTACAATATCTTCCTGCTATAAGAGCATTATGGGCAGACAGCGGCATACAGAATGCCTATGACCGGCGTCGAGAATTTCAACTG|ATACCAACCATCTGGCCCTAAAACAAATCTCATCAGTTTATGAACCAGGCAGCCCAATCACAGTGCCTAATTCTCCCTATCACACAATTGGTCAAGGAGGG MADFLPSRSVLSVCFPGCLLTSGEAEQQRKSKEIDKCLSREKTYVKRLVKILLLGAGESGKSTFLKQMRIIHGQDFDQRAREEFRPTIYSNVIKGMRVLVDAREKLHIPWGDNSNQQHGDKMMSFDTRAPMAAQGMVETRVFLQYLPAIRALWADSGIQNAYDRRREFQL|iptiwp* 16BR012 ENSG00000120063.10 ENSG00000200889.1(16715),ENSG00000108406.10(11396) -/- ./- chr17:65053502 chr17:59554214 CDS/splice-site intergenic deletion 0 3 0 91 11 medium out-of-frame . G-protein_alpha_subunit(100%)| . . ENSG00000120063.10 . ENST00000439174.7 . upstream downstream . ^(AGTTCGCTGGTTCCCTCCCTCCCTGGGCGCGCTCGGGCCGCCGCCGCGCTCCCCGCCCTCGAGCCTCGGTGCCGGAGCCGCCCGCCGCCGGAGGAGGAGGTGGAGGGAGCCGGAGGGGCCCGCCGAGGCGGCGGCGGCGGCGGCAAGATGGCGGACTTCCTGCCGTCGCGGTCCGTGCTGTCCGTGTGCTTCCCCGGCTGCCTGCTGACGAGTGGCGAGGCCGAGCAGCAACGCAAGTCCAAGGAGATCGACAAATGCCTGTCTCGGGAAAAGACCTATGTGAAGCGGCTGGTGAAGATCCTGCTGCTGGGCGCGGGCGAGAGCGGCAAGTCCACCTTCCTGAAGCAGATGCGGATCATCCACGGGCAGGACTTCGACCAGCGCGCGCGCGAGGAGTTCCGCCCCACCATCTACAGCAACGTGATCAAAG___GTATGAGGGTGCTGGTTGATGCTCGAGAGAAGCTTCATATTCCCTGGGGAGACAACTCAAACCAACAACATGGAGATAAGATGATGTCGTTTGATACCCGGGCCCCCATGGCAGCCCAAGGAATGGTGGAAACAAGGGTTTTCTTACAATATCTTCCTGCTATAAGAGCATTATGGGCAGACA)GCGGCATACAGAATGCCTATGACCGGCGTCGAGAATTTCAACTG|GCTGGAATGCAGTGGCACGATCACACAATGAAGCCTCGAACTTCTGGGCTCAGTGAACCTCCCACTTCAGCCTCCTGAGAAATTGGACTACAGGCATGTGCCACCATGCTTGGC...___CGTGAAGAATTTTGACTCCTAGGGAAAATCTCATaTA MADFLPSRSVLSVCFPGCLLTSGEAEQQRKSKEIDKCLSREKTYVKRLVKILLLGAGESGKSTFLKQMRIIHGQDFDQRAREEFRPTIYSNVIKGMRVLVDAREKLHIPWGDNSNQQHGDKMMSFDTRAPMAAQGMVETRVFLQYLPAIRALWADSGIQNAYDRRREFQL|agmqwhdhtmkprtsglsepptsas* 16BR012 ENSG00000207304.1 ENSG00000143384.13(20201),ENSG00000253047.1(600) -/- ./- chr11:93732244 chr1:150599939 exon intergenic translocation 1 2 0 442 53 medium . . . . . ENSG00000207304.1 . ENST00000384574.1 . upstream downstream . ^(TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCATCGTTGGTTTTCTTGGCTTTGTGCTTGTTAAACCTGGTATTTCTACTGATACAG)TATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCACCTACAGTAAAAAG|GACCCTAAAGTAAATTGGTTGAAGAAATTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCAtATTAAAAcGAGAtGACAG-AAGCCAAAGTAATTATGGGCTGACAGGACAACTGGATCAGTTTCATTAAAAAGG . 16BR012 ENSG00000170921.15 ENSG00000253102.1(7460),ENSG00000167107.12(20810) +/+ ./- chr17:63099357 chr17:50405348 intron intergenic inversion 1 1 0 24 2 medium out-of-frame . . . . ENSG00000170921.15 . ENST00000424789.6 . downstream downstream . ^(AACCATGTTTCGGAATAGTCTCAAGATGCTGCTTACTGGTGGGAAATCAAGTCGTAAAAACAGGTCAAGTG___ATGGAGGGAGCGAGGAACCACCGGATCGAAGACAGTCAAGTGTAGACTCTCGCCAAAGCCGCTCTGGGCAAG___GTGGCATCTCCACAGAA)AGCGACTGTGCTTTTGAGCCAGACTACGCTGTCCCGCCACTTCCAGTGAGTGAAGGTATGCAGCACATTCGGATTATGGAGGGCATGTCTCGCTCTCTTCCATCCTCCCCCTTACTCACACATCAGTCTATCAGTGTTCGGCTCCAGCCTGTGAAGAAGTTAACTG|CTTGAGCTGAGCTTTCACTTGCTGTCCACCACTGCTGTTTGCCACTGTCACAGACCTGCTGCTGACTTCCACCCCTCCAGATCCGGCAGAGTGTCCGCTGTGCTCCTGATCCAGCAAGGTGCCCACTGCCGCTCC MFRNSLKMLLTGGKSSRKNRSSDGGSEEPPDRRQSSVDSRQSRSGQGGISTESDCAFEPDYAVPPLPVSEgmqhirimegmsrslpsspllthqsisvrlqpvkklt|a* 18BR002 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 11 15 0 89 46 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTT)GAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 18BR002 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 9 0 94 52 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(3) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACC)AATTAATGCTAATGAGGCAAG___TCATTATTTTATAGATCTAATGAGGCGTCAAGAAGAACTCAGACGaTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG___AACAGACAAAAGGAC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQviil*I**GVKKNSDdWKNSETKSCKNGSKYN*DMKRSIGGVRKK*SDTENRRN*GDSKRALSQTTWKm|vikenvaevtrssacsviqks* 18BR002 ENSG00000177410.13 ENSG00000054803.4(22081),ENSG00000222118.1(177452) +/+ ./+ chr20:49279208 chr20:56027600 exon/splice-site intergenic deletion 7 12 1 851 44 high . . . . . ENSG00000177410.13 . ENST00000620594.2 . downstream upstream mismatches(2) ^(CTTTCGCGTCT)GCGGTGCtCGGgGTGTGGTACTTCTgCTgGTTGCAGTCAGGCTTCATACGCTATTGTCCTGCCC___GTTAGAGCAGCCAGCGGGTACAGAATGGATTTTGGAAGAGGGAGTCACCACTGGACCTCCAgGGAAGCCACGTGCAGACATCTACAACCTTCGATCTCCTGACGA|GTGGTCATAAGGGAACCCTCATGTGGCCTCATGTGTGTACCAATGGATAAGCAATCGTACAGCCCTGGTGAATTACATGGGGTTCTGGATCACCTGTTCATGGAGCTGATTTGTGCTCTCCAGCCTTGTTTCTTCCCAATACCAGATGTGCCATGTACACCTTTCCATGCATTGCTGCTGGACCTGGTAGGTCCTACATCATTTTGGGTAGCCCTG . 18BR002 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 7 10 0 43 32 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(2),mismatches(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGT)CCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednye 18BR002 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 15 0 22 43 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream . GTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC------AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGT(GCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 18BR002 ENSG00000258414.1 ENSG00000151338.18 +/+ +/+ chr14:37564362 chr14:37499908 exon/splice-site CDS/splice-site duplication 3 13 0 55 45 high . . . . . ENSG00000258414.1 ENSG00000151338.18 ENST00000554829.1 ENST00000327441.11 downstream upstream . ^(ATAGCACATCAGTGAAGACAAAAAGAGTTGTTACTCAGTTCTTTACCCTAGAATAAATCAAATCAACAAATATTTATTGAATGTCTACTATGTGCAAATAGCCCTGGACTGTTCAGCTTTTAAAAGCCATCCAACTTTTCACATTAACAAATCAAAGCATTATT)ATTTCAAGCATTGCAGAAGCTGCTTCCATGTCCTTAAGGTGACAAAGCATATGAGGACTTTGCAAGTACTTGGAGTAAAGGAAGAGAAGAGAATTCACAGAGTGAAAAGAGGAGAAAGAGTGCTCTAAAATATCACCAATGGACTGCAACAT|TTTACACAAATCTTTATCTCAAGAAGAAAATCTGAAGGATCAGTTTAACTATACCCTTAGTACATATGAAGAAGCTTTAAAAAACAGAGAGAACATTGTTTCCATCACTCAACAACAAAATGAGGAACTGGCTACTCAACTGCAACAAGCTCTGACAGAGCGAGCAAATATGGAATTACAACTTCAACATGCCAGAG(AGGCCTCCCAAGTGGCCAATGAAAAAGTTCAAAA___GTTGGAAAGGCTGGTGGATGTACTGAGGAAGAAGGTTGGAACCGGGACCATGAGGACAGTGATCTGATTGAAAAAAAACGACAGTCTGGGGAAGCGATCACATCTGGTGACCAGGCTGCTTCATTCAACACTGTGTAAACACCAAAGCCTTAACTTAGCAAACAGTTGTTAGAAGTGGGACACTCCAACCACATTCCAAGCTGAGATAAAATCAAATCACAAATGTTTAACCACTTTGCTGCTGACTTGAGTTATTTATCCAAATATATTAACTATAGACTTTTACCAATGGGTAGCTATAAGGTTACAGCTTATTTTGTAACTATTTTATATCTCAATATCTTTAATATAAATCTTTTTACTGAGAGATCATTATAGAAACATGTTAAAGTTGGTTAGGATCATATCTTCACATATGGCCCTTTCTGAATCAAAGTGCGGCAAAGTAAATATTGTCTAAGCTTTAATCCACTGTGTTAGGTCAAAACTTCAAATACATGCATTTTTCAATATAGGGTATATTTCTTAACTGATGAGAGAGGCTTAGACATGAGTGTGTAGTCTTCCTTCAATGCGTGTATGTAATCTTTGTTAGTATAAAAGATATTAAATATAGGTGCCAAGAATTAAATGTATAATTTGTTTAATAAGAGATGGATATATTAAAATTACATTCATCAAGGCATGATTTTTGTTTCACTACAAATAATGCAAACTGTTTTCAATAAAAAGAGGAGACTGTTAATGTGTACTTATAAATTCACATTGTCAGTATTTTTTAATATTGGGTCTGAATAATTATCTGAATTCTACTTAAGCTATAAGTCTCTGTCATTTTTGCTTGAAAATTAGCATGCCTCTGTCTTAAAAGAGACCATCAAACCTATTAAGTATTCTTATTGTTTATCTTTTTTTAATTGCCATTTGATTTTTATTGTGGAGGAGGAGGATCTAATATATAATATTCAATACAATTGTAATGTAGAAATATAAGAATTTAGAAAAAAGTAAACTTGCCATTTGGTTAAGGTTACCTGCTTTTTATTTTATTCCAGAAATAAGATAGTTACAGCATAGCAGTCATATGAAGTTATGAATAGAACTGAGATTTTTATGTAATTAGTTATAGGCAAAATACTTTCATATTTTTAGATTAGACAGACGAAAGACCAAGAGGAAATGACTGTGCCTGGAACAGGATGAAATAGACAAGTAGAGATTTAATTAGCAAAAATTTTGTAGGGAAGTAAAATTTTTTCTAAGTCTATACGTTTTTAATTCATCTTTAAGATTGAGCTAAATTATCTACCATTGCCTATTTACAGGATAAGTACATTCAGGACAATTTATTGTACCATTCTTTCATATACCATAGCAGATTATCCATTTCAATTTTTTTTTACTCCACAGGAAAATGTAAGCTACTTTGTCATAGATCACAAAAGAATCATAATGCTAACAAACTCTATTTCTTCCTTATTAAATCTGTATCCATTAAAGTAACTTTTTTAACTATGAGAATTAGAAAATAAGGGACAACAGGGGTTAAAAATAAACTGATTTAATTTGCTCTATAGTCCTAAAGAGAATTATATCCTCTCATAGACCAATGACTCTATAATAGAGAAATATGTAATGATTTGGTCATGCATGGAGTCTTGTCTCTGGGCTCTATTTGAAACGTGTAACAGCTCCCTATGTGAAGAAACATTATCTTTAAAGTCATCTGGGAGGTGCAGGTAAGTAAAGAGAAACAATTTTTGTCACAAAGTAGTCCATTCCTGATCTCACTTAAAATAAATCACAAGTAAATTTGAATTTTCGGTTTAATGTTGAAAGCAGATGAACTTTTCTTGAGTTATTTTGTCTTTTAGAATACACAAAATATAGTATAAAGACATTTCACAATTTCCAAACAAATCTTTCTACGCTTAAATGATCAAATTAGAAAAACCAATTCCTATAATTAATATGCAGAACTTTTATAGAATATGATATTATAAAGTTAAATTTGCAAAATAATTCTAACATCCACTATTGTTCAGTATAGGTAATCTCCCAAAAATATCACATCCTCTTGAAAATGAATTGTCTACAAAATTTCAAATGCAAAGTATTACAGCCAAATATTATCTTAATTAATTTCTTACACTTAAAAGTGTCCATCAACAGTGTGTCAGATGGTCTTTATATATTTTTTCTGTATGAAGGAATAGCCTTGCCTACTGAAGATAGGTTCTCTATGTATTCAACAATAATGCAACTTTAGAAGTATTCCACACTGCTGAGAAATGTTGCTTTGAGTTTGCTTTACACATCATCAACTCTAAATCCTATAGTAACATGAGAATTCACTTCTTCTTGTAAAAATAAGTAATTTACAGGAAAGGCAAAATGCTAATACTAACATTTGTAGCACTTGATGATTTACAAAGTCCTTTTACATCTGTTTTTTCATTTGATCCTATCGACAATCATAATAATAATAAATTATATATATAACCCATATAATAACGATGGTGATGATAATTTTAGTATTACTGTCATTATAATTATTATTATATTCATTCTACAGATGAGGAAACAGACTCAGTAAGCCTTGGAATTTGCCAAGGACTGGCTAGGACCTAGAACTAAGATCTTATAACCACACTCCATGCAACTATGAGTCTCTAAATCTCTCTGTAAGAAAAAAATTTCAAAGTAAAGATTTTACTCTTGCAATTTCTGTTGTGATAGTACCATCTCTTTCACATACTACATACAAATTCCCTAATAATCAAAAGATTGTACACATTTTTTTCAATGAAGTACAATAATGTGAACTGCATGTGTAAACAGCATCACATTATTACCACCTCTCTATGGTATTATAGTGGCAGTATGCTTTGCCTCAGCCTTCACTAATTAGGAATATTGTGACAATTCATTGCTAATAAAACATAACATGAGTCTCTTTGTACTGTTTTTAATTTGGCCTGATGCTAAAACCTATCAGCTTAGTTTTTTAACATGGTAGTCTAAACTTCAAGGCTTGCTCTATCTCCTAGAGCAATTTAGAGCTAAAACCAGTAATAAGCAAAGTTATTGGTTATAAGCAAGGTATAAGCAGTTAAAGCAAAGTTATTAATTATTAATATATGAGAATTTAAAATTTTATAAATAAGTTAGAAATTATTAATGTATTTTAAATATGGAGTAAAATATTTTGCTAATTTTTTTCAATGATAAAGTTGATCCTTTGTATATTTCCTTATTCAAATAAATTCAGTCATCTTCTTATCAGGTTGCTTATTTATATAATTTGTTTATTTTATTAAAAATCTAGAATATTAAAGATTTATACTTTTAATATTGAATATAGTTTCGTAGAAAAACATTTTATATGTACTATTCTTAAAGATCACAATTATTTTTAAACTTTCTATTTTCAAATACTTGTGATTAATAAGGCATTCTATGATGAAATAGCCATGGCTTATATATTTTTGTCTTTTCACATATGATGTGTTTGGAACCCAAATTTTTTACTGATTTTATTGTGTTGTTGGTAACTAGTATTTACAGCTAACCTATCTATTCATATTTTACATATATATATATATATATACATGCACACACACCGATACATTTACCTTTTAAAAAAATGATTTATAAGTGAACTGTTAGGCTCCAGTGATTTCAGTGTTTTGTTCATGTTTTATTGGAAATGCACGTGGTTTCTTAGGCTTTTAAACAAATACATGGAATGGTTGAAAGATTTATTTTGCTCGTGCTTAGCTAAATATGTCATCTCTAGAAAAGATGTGGTTTGTTTTGGCACTGTTTTAAAAACTCAAATATTTTAAACATTTGTTAAGTTGGAGCTTGCACATTTAAACCAGCAGCATACGTTCCAGAAGAGCATCTCAAGTTACCAAATTTTTTGTAATCCTTTTACTAGAAAAATCTTTTTTGAAGAGTTTTTCTTGTGCTTGCTTCGGCAGCATATATACTGAAATTAGAAAAAGAAAACTTTTCTTTTTTATTATATATTTTAGTGTAAGTTAAGTTAAACTTCTAAAAGTTGAATTATTTAATGTAGGACTTCATAAATAGTATTTGACAATGATAAATGTGTATTTTTGAGAATCATTAAAATGTATACAATGATATTCCTTTGCAGAAGTCTTAATATGCATAATTTTTAATCTAATTGTCTTCTAAATATAGTTTTGGTGTATGCTGGTATTTTAGAAGCCACCAATTTCTGGACTATCTGATTATTAACAAAGATGTATTTTAATGCACAAACTCAAATGTTTAAAATATATATTTACTTTGTACTCAAATAAAATCCCCTATTGCAAATCCTATACATATTTCAATGCAATTCTTATACATCGATCTTAATCAAATTTATAAATGTACAATCCTGAAGACAGTGTACTAGATATGCACTATAAAATATATTGCAGTAAGGAAACAGATTAAGTTCACTGTCAAACTGTCTGACTTCCTTAACAAATTTAATAAAGATAAATGTCAATATGAACAAATTTGTTAGGTACCTTAGGAATCTTTCAAAACTATTTAGATATAAAATAAAATTATAGTAATAAAATATTGAAGAGAAATATCATTTTTAGTGAATATGGTTAGAAAGAACATAAGAAGTGAGATCAAATTATTTTAATTAAAAAAATAGGCCAGGTGCGATGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAGTACAAAAAAGAAGTTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTCAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAGACTGACTCAAATCTACCATAAAGCACCTCTACTCATTTTGGAATATGTACGTGGAATTTTGCTTCAATAGCTGAAATCTAAAAACACTCTTTCTGTTGCATTTGATTATTCAATCATGATAAGGTAAATGTAAACAGACTGTGTAGCACTCTATCACCTGGAGTGAACTTAGAATTTACAGCTTAGAGTACATGACTAAAAGAGGAATGGAGTGGAAGTGGGCAGTAGGTGTCTTTGGGGCAAAAATTCTATAAACTGGTGTTATCTAAACTATCACATTACTTTGTTAAATTATTGTTTCATCACGTATGACCTTTGTGATTTGTCACACATTTTACTTCTACATATGCACATAATTGTAATTTTTTTAACTTTAAAAAGTCAATTATGTTTAAGAAAATTTTTAAAATAAGAATGAACGTATGTGATATTTACTGTGA)$ . 18BR002 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 6 0 17 14 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismappers(1),mismatches(1) GGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCgCGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACC(TTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 18BR002 ENSG00000108175.17 ENSG00000226466.2(85167),ENSG00000287358.1(648276) +/+ ./- chr10:79216274 chr10:81222502 CDS/splice-site intergenic inversion 11 3 0 34 12 high out-of-frame . . . . ENSG00000108175.17 . ENST00000334512.10 . downstream downstream . ^(ACTTACTCACCCCCTAACGCCGAGTTCCTTTTCACTGTCTGTGGACATTAAAAAAGCGAGCGGCGGCGGCGGGCGCCGGGGAGAGCGGGCGGCCGGGCGGCAGGCGGGCGAGCAGCGATCGGGCGGCCGAGCGAGCGAGCAACGCCGGCGCAGCGCGGTGACCCCAGCCCCAGCCGGCGCGGAGCAGGAGCCGGAGCCGAGCGGATCTCGGCGCCCTCGCTGCGCTCCTCCCGGCCCGAGCCTGCCCTACCCGGCGGTGGCGGCGGCGCGTCCTCCAGCGGCGGCAGCGGCGCTCGCAGCGCCCG___GACTCACGGCAGCTGTGTTCTGATTTCGTACTACTGCTGGGGCTGCCACCTCCTCCTCCAGACGCTCTCAGCAGACTTGAGTCCTGGTCCTTCTGCAGAGGCCTGAGCAG___GAGGAAGAGGAGGAGGCCCGTTGGCGTCGGACCAATGCTGCAAGGGGTGTGAGGAGAGGAGCCGCTGTTTTTCACTGAGCTGCCATACCCCGAAAG___CAGGATGGAGCTGGAGTGAGGTGGAGGGGCCGCAAGCTGCTGACCGGCGTGTGGAACACTGGTGGTTTGCAGATCACTGAG___GCTGGACAACGTTCATGGCTCTCGGGTAGAACCTAGTGAAACGGCCAGAATGAATTCTATGGACAGGCACAT)CCAGCAGACCAATGACCGACTGCAGTGCATCAAGCAG___CACTTACAGAATCCTGCCAACTTCCACAATGCCGCCACGGAGCTGCTGGACTGGTGCGGAGACCCACGGGCCTTCCAGCGGCCCTTCGAGCAGAGCCTGATGGGCTGTTTGACG___GTGGTCAGTCGGGTGGCAGCCCAGCAAGGCTTTGACCTGGACCTCGGCTACAGACTGCTGGCTGTGTGTGCTGCAAACCGAGACAAGTTCACCCCGAAGTCTGCCG|ATATCATCGAAATCATGGTAGAGGAATGTCAATCCAAAAGAAAGCAGGGAGAAAACAGCAGACAAAATTGTCCAACAcATTTTTTTTTCAAGATGAAAGGCAGG...___GGTCTTGCAGTTTGGAGCATAGAACCTGAGCGTAGA MNSMDRHIQQTNDRLQCIKQHLQNPANFHNAATELLDWCGDPRAFQRPFEQSLMGCLTVVSRVAAQQGFDLDLGYRLLAVCAANRDKFTPKSA|diieimveecqskrkqgensrqncpthfffkmkg 18BR002 ENSG00000274760.1 ENSG00000054803.4(22081),ENSG00000222118.1(177452) +/+ ./+ chr20:49279208 chr20:56027600 exon/splice-site intergenic deletion 2 12 0 851 44 high . . . . . ENSG00000274760.1 . ENST00000610973.1 . downstream upstream mismatches(1) ^(AGC)GGGTACAGAATGGATTTTGGAAGAGGGAGTCACCACTGGACCTCCAgGGAAGCCACGTGCAGACATCTACAACCTTCGATCTCCTGACGA|GTGGTCATAAGGGAACCCTCATGTGGCCTCATGTGTGTACCAATGGATAAGCAATCGTACAGCCCTGGTGAATTACATGGGGTTCTGGATCACCTGTTCATGGAGCTGATTTGTGCTCTCCAGCCTTGTTTCTTCCCAATACCAGATGTGCCATGTACACCTTTCCATGCATTGCTGCTGGACCTGGTAGGTCCTACATCATTTTGGGTAGCCCTG . 18BR002 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 6 6 0 22 14 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2) CAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCC(ACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 18BR002 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 5 7 0 18 17 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520052.1 upstream downstream mismappers(1) TACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAG___TTTTACTAAAGGGAGG(AAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 18BR002 ENSG00000108848.16 ENSG00000006283.18 +/+ +/+ chr17:50719831 chr17:50615361 CDS/splice-site CDS/splice-site duplication 4 8 0 111 13 high out-of-frame . |Ion_transport_protein(100%) . . ENSG00000108848.16 ENSG00000006283.18 ENST00000505658.6 ENST00000359106.10 downstream upstream . ^(GTCTTGTCGGCT)CCTGTGTGTAGGAGGGATTTCGGCCTGAGAGCGGGCCGAGGAGATTGGCGACGGTGTCGCCCGTGTTTTCGTTGGCGGGTGCCTGGGCTGGTGGGAACAGCCGCCCGAAGGAAGCACCATGATTTCGGCCGCGCAGTTGTTGGATGAGTTAATGGGCCGGGACCGAAACCTAGCCCCGGACGAGAAGCGCAGCAACGTGCGGTGGGACCACGAGAGC|AAGCCCAGTGCAAACCTTACTACTCCGACTACTCCCGCTTCCGGCTCCTCGTCCACCACTTGTGCACCAGCCACTACCTGGACCTCTTCATCACAGGTGTCATCGGGCTGAACGTGGTCACCATGGCCATGGAGCACTACCAGCAGCCCCAG___ATTCTGGATGAGGCTC(TGAAGATCTGCAACTACATCTTCACTGTCATCTTTGTCTTGGAGTCAGTTTTCAAACTTGTGGCCTTTGGTTTCCGTCGGTTCTTCCAGGACAG___GTGGAACCAGCTGGACCTGGCCATTGTGCTGCTGTCCATCATGGGCATCACGCTGGAGGAAATCGAGGTCAACGCCTCGCTGCCCATCAACCCCACCATCATCCGCATCATGAGGGTGCTGCGCATTGCCCGAG___TGCTGAAGCTGCTGAAGATGGCTGTGGGCATGCGGGCGCTGCTGGACACGGTGATGCAGGCCCTGCCCCAG___GTGGGGAACCTGGGACTTCTCTTCATGTTGTTGTTTTTCATCTTTGCAGCTCTGGGCGTGGAGCTCTTTGGAGACCTGG___AGTGTGACGAGACACACCCCTGTGAGGGCCTGGGCCGTCATGCCACCTTTCGGAACTTTGGCATGGCCTTCCTAACCCTCTTCCGAGTCTCCACAGGTGACAATTGGAATGGCATTATGAAG___GACACCCTCCGGGACTGTGACCAGGAGTCCACCTGCTACAACACGGTCATCTCGCCTATCTACTTTGTGTCCTTCGTGCTGACGGCCCAGTTCGTGCTAGTCAACGTGGTGATCGCCGTGCTGATGAAGCACCTGGAGGAGAGCAACAAGGAGGCCAAGGAGGAGGCCGAGCTAGAGGCTGAGCTGGAGCTGGAGATGAAGACCCTCAGCCCCCAGCCCCACTCGCCACTGGGCAGCCCCTTCCTCTGGCCTGGGGTCGAGGGCCCCGACAGCCCCGACAGCCCCAAGCCTGGGGCTCTGCACCCAGCGGCCCACGCGAGATCAGCCTCCCACTTTTCCCTGGAGCACCCCACG___GACAGGCAGCTGTTTGACACCATATCCCTGCTGATCCAGGGCTCCCTGGAGTGGGAGCTGAAGCTGATGGACGAGCTGGCAGGCCCAGGGGGCCAGCCCTCTGCCTTCCCTTCTGCCCCCAGCCTGGGAGGCTCCGACCCACAG___ATCCCTCTAGCTGAGATGGAGGCTCTGTCTCTGACGTCAGAGATTGTGTCTGAACCGTCCTGCTCTCTAGCTCTGACGGATGACTCTTTGCCTGATGACATGCACACACTCTTACTTAGTGCCCTGGAGAGCAAT___ATGCAGCCCCACCCCACGGAGCTGCCAGGACCAGACTTACTGACTGTGCGGAAGTCTGGGGTCAGCCGAACGCACTCTCTGCCCAATGACAGCTACATGTGTCGGCATGGGAGCACTGCCGAGGGGCCCCTGGGACACAGGGGCTGGGGGCTCCCCAAAGCTCAGTCAG___GCTCCGTCTTGTCCGTTCACTCCCAGCCAGCAGATACCAGCTACATCCTGCAGCTTCCCAAAGATGCACCTCATCTGCTCCAGCCCCACAGCGCCCCAACCTGGGGCACCATCCCCAAACTGCCCCCACCAGGACGCTCCCCTTTGGCTCAGAGGCCACTCAGGCGCCAG___GCAGCAATAAGGACTGACTCCTTGGACGTTCAGGGTCTGGGCAGCCGGGAAGACCTGCTGGCAGAGGTGAGTGGGCCCTCCCCGCCCCTGGCCCGGGCCTACTCTTTCTGGGGCCAGTCAAGTACCCAGGCACAGCAGCACTCCCGCAGCCACAGCAAGATCTCCAAGCACATGACCCCGCCAGCCCCTTGCCCAGGCCCAGAACCCAACTGGGGCAAGGGCCCTCCAGAGACCAGAAGCAGCTTAGAGTTGGACACGGAGCTGAGCTGGATTTCAGGAGACCTCCTGCCCCCTGGCGGCCAGGAGGAGCCCCCATCCCCACGGGACCTGAAGAAGTGCTACAGCGTGGAGGCCCAGAGCTGCCAGCGCCGGCCTACGTCCTGGCTGGATGAGCAGAGGAGACACTCTATCGCCGTCAGCTGCCTGGACAGCGGCTCCCAACCCCACCTGGGCACAGACCCCTCTAACCTTGGGGGCCAGCCTCTTGGGGGGCCTGGGAGCCGGCCCAAGAAAAAACTCAGCCCGCCTAGTATCACCATAGACCCCCCCGAGAGCCAAGGTCCTCGGACCCCGCCCAGCCCTGGTATCTGCCTCCGGAGGAGGGCTCCGTCCAGCGACTCCAAGGATCCCTTGGCCTCTGGCCCCCCTGACAGCATGGCTGCCTCGCCCTCCCCAAAGAAAGATGTGCTGAGTCTCTCCGGTTTATCCTCTGACCCAGCAGACCTGGACCCCTGAGTCCTGCCCCACTTTCCCACTCACCTTTCTCCACTGGGTGCCAAGTCCTAGCTCCTCCTCCTGGGCTATATTCCTGACAAAAGTTCCATATAGACACCAAGGAGGCGGAGGCGCTCCTCCCTGCCTCAGTGGCTCTGGGTACCTGCAAGCAGAACTTCCAAAGAGAGTTAAAAGCAGCAGCCCCGGCAACTCTGGCTCCAGGCAGAAGGAGAGGCCCGGTGCAGCTGAGGTTCCCGACACCAGAAGCTGTTGGGAGAAAGCAATACGTTTGTGCAGAATCTCTATGTATATTCTATTTTATTAAATTAATTGAATCTAGTATATGCGGGATGTACGACATTTTGTGACTGAAGAGACTTGTTTCCTTCTACTTTTATGTGTCTCAGAATATTTTTGAGGCGAAGGCGTCTGTCTCTTGGCTATTTTAACCTAAAATAACAGTCTAGTTATATTCCCTCTTCTTGCAAAGCACAAGCTGGGACCGCGAGCACATTGCAGCCCCAACGGTGGCCCATCTTCAGCGGAGAGCGAGAACCATTTTGGAAACTGTAATGTAACTTATTTTTTCCTTTAACCTCGTCATCATTTTCTGTAGGGAAAAAAAAAAGAAAAAGAAAAAATGAGATTTTACAAGTGAAATGGAACCTTTTTATATATACATACATACATATCTATCTATCTATCTATATATATATAAAATAAAGTAATTTTCCTAAATAAAAA)$ MISAAQLLDELMGRDRNLAPDEKRSNVRWDHES|kpsanlttpttpasgsssttcapattwtsssqvssg* 18BR002 ENSG00000062650.19 ENSG00000227896.2(49598),ENSG00000230507.5(56126) -/- ./- chr10:86517571 chr10:86574699 CDS/splice-site intergenic duplication 4 5 1 54 14 high out-of-frame . . . . ENSG00000062650.19 . ENST00000298767.10 . upstream downstream duplicates(1) ^(GTGACGGAGCGAGCGGCTGTTGGAGGAAGGAGGTGGGGGCCGGGAGCGCAAATGGCGTTGAGATGGTTCAGGGCCCTGTTCAAACTCCAGCACTGACCATTCACCGGCGGAAGCGGCGGCGCAGGAGGCGGCGGCGGCCCAGCGGGGGCACACAGCAGGCTCTGTTACCAGCTCCAGCAGTGGCGGCCAGCGAGAGCTAGGCCTGGGCCCGGCCGGCGGCGCTCGAGGCGGGGAGGGAAGTTGCGGGGCCGCCGCTCCTGCCCCCCCAACCGGGCTTCCTATTTACCGAAAGCAGAGTCCCTCGCCTCTCTCGGCTCTCACCTGCCGGCCCTGCTCTCCCGCGCGAGGGTTCCGCGCCCGCCCGCGGGCCGTAGGGAGCGGGAGAGGCGGAGGCGGCCCGTGGCCAAAGCACCCGCCAGGCTCCGAGG___AGAATATGAAACTGGTGTCAAAATGACATCCAGATTTGGGAAAACATACAGTAGGAAAGGTGGAAATGGCAGTTCAAAATTCGATGAAGTCTTTTCCAACAAACGGACTACCCTTAGCACAAAATGGGGAGAGACCACATTTATGGCTAAATTAGGGCAGAAGAGGCCCAATTTCAAACCAGATATCCAAGAAATTCCGAAGAAACCTAAAGTGGAAGAAGAAAGTACTGGAGATCCTTTTGGATTTGATAGTGATGATGAGTCTCTACCAGTTTCTTCAAAGAATTTAGCCCAGGTTAAGT)GTTCCTCTTATTCAGAATCTAGTGAAGCTGCTCAGTTGGAAGAGGTCACTTCAGTACTTGAAGCTAATAGCAAAATTAGTCATGTGGTCaTTGAAGACACTGTCGTTTCTGATAAATGCTTCCCTTTGGAGGACACTTTACTTGGGAAAGAAAAGAGCACAAACCGAATTGTAGAAGATGATGCAAGCATAAGTAGCTGTAATAAATTAATAACTTCAG|GAACTCTGCTGTGCACTACAAGGAAATGTAATGTCTGGGCAGTGATTAGTACAGTAACTCAGGAGGCTGGAGAAAATATCAGTGAAGATGGGTGAAATGGAGTATTGACTTTTAAGGCTGCCTTTTGTTGGGAGACAAGACCTTAATCTTCAACTATAGAAGCCGTAAGACCAGACACTTGCTTTTCCAGCTTTTTTGCACATAGAAAATGGGCATCTATAATACAGCCTTGACCAATCAACTGCATCCTGCCCAGATCTGAACTGGGATCTTGTATTGCAAAGAATCCTTTCTAGGATGATCAACCACAGCAAGGGCACCATCC MTSRFGKTYSRKGGNGSSKFDEVFSNKRTTLSTKWGETTFMAKLGQKRPNFKPDIQEIPKKPKVEEESTGDPFGFDSDDESLPVSSKNLAQVKCSSYSESSEAAQLEEVTSVLEANSKISHVViEDTVVSDKCFPLEDTLLGKEKSTNRIVEDDASISSCNKLITS|gtllcttrkcnvwavistvtqeagenisedg* 18BR002 ENSG00000020256.20 ENSG00000054803.4(24343),ENSG00000222118.1(175190) -/- ./- chr20:52160123 chr20:56029862 CDS/splice-site intergenic duplication 4 5 0 55 11 high out-of-frame . C2H2-type_zinc_finger(100%)| . . ENSG00000020256.20 . ENST00000371518.6 . upstream downstream . ^(ACATCCGTCCTCCCCGCCTCGCAGAGTTGGGAGAAGGCAGGGTGGGGGGTGTGGAAAAATAAAAGGAAAAGTCCTTGCACCATGTAGATCAGCGTCCCCCACTTTGGCATCCCGGCCGGCCGGGGACCTCCCAGTCTGCGGCCATGAACGCGAGCAGCGAGGGCGAGAGCTTCGCGGGCTCGGTGCAAA___TTCCAGGTGGCACAACGGTGCTGGTGGAGCTGACTCCCGACATCCATATCTGCGGCATCTGCAAGCAGCAGTTTAACAACCTGGATGCCTTTGTAGCTCACAAGCAAAGTGGCTGCCAGCTGACAGGCACATCCGCAGCAGCCCCCAGCACGGTCCAGTTTGTATCGGAGGAAACAGTGCCTGCCACCCAGACTCAGACCACCACCAGAACCATCACCTCGGAGACCCAGACAATCACAG___TTTCAGCTCCAGAATTTGTTTTTGAACATGGCTATCAAACTTACCTGCCCACGGAAAGTAATGAAAACCAGACAGCCACTGTCATCTCTCTCCCTGCCAAGTCACGCACCAAAAAGCCCACAACACCACCTGCTCAGAAAAGGCTTAACTGTTGCTATCCAG___GTTGCCAATTCAAGACTGCTTATGGCATGAAGGACATGGAGCGGCATTTAAAAATTCACACGG___GAGACAAACCCCATAAGTGTGAAGTCTGTGGCAAGTGCTTTAGCCGGAAAGACAAGCTGAAAACTCACATGCGG)TGCCACACGGGCGTGAAGCCCTACAAGTGTAAGACGTGTGACTACGCCGCTGCCGACAGCAGCAGCCTCAACAAGCACCTGAGGATCCACTCGGACGAGCGGCCCTTCAAATGCCAGATCTGCCCCTACGCCAGCCGCAACTCCAGCCAGCTCACTGTCCACCTGCGATCCCACACGG|CCCCTGCATTGAGACTTCGAAGCTTGGCTCATCATGGGGTAGAGTCTGTTTTTCCACTGTGAATCAAGTCTTGCTATGTGGCTTGCTTTGGCTAATAGAATGTGATAAATGTGACTATATGTCACTTCAAGCTTAGGCTGCAAGAGGCATTGCACATTTTCAACTCATGCTTTTGGGACCCTACCTCTGCCATGAGAAAAAGCCAAGGCTGGCTAACGAGAAG MNASSEGESFAGSVQIPGGTTVLVELTPDIHICGICKQQFNNLDAFVAHKQSGCQLTGTSAAAPSTVQFVSEETVPATQTQTTTRTITSETQTITVSAPEFVFEHGYQTYLPTESNENQTATVISLPAKSRTKKPTTPPAQKRLNCCYPGCQFKTAYGMKDMERHLKIHTGDKPHKCEVCGKCFSRKDKLKTHMRCHTGVKPYKCKTCDYAAADSSSLNKHLRIHSDERPFKCQICPYASRNSSQLTVHLRSHT|apalrlrslahhgvesvfpl* 18BR002 ENSG00000140718.21 ENSG00000251888.1(3221),ENSG00000259873.1(238817) +/+ ./- chr16:53934109 chr16:82196011 CDS/splice-site intergenic inversion 3 4 2 59 6 high out-of-frame . FTO_C-terminal_domain(100%),FTO_catalytic_domain(100%)| . . ENSG00000140718.21 . ENST00000637969.1 . downstream downstream . ^(CGGTGGCGAAGGCGGCTTTAGTGGCAGCATGAAGCGCACCCCGACTGCCGAGGAACGAGAGCGCGAAGCTAAG___AAACTGAGGCTTCTTGAAGAGCTTGAAGACACTTGGCTCCCTTATCTGACCCCCAAAGATGATGAATTCTATCAGCAG___TGGCAGCTGAAATATCCTAAACTAATTCTCCGAGAAGCCAGCAGTGTATCTGAGGAGCTCCATAAAGAGGTTCAAGAAGCCTTTCTCACACTGCACAAGCATGGCTGCTTATTTCGGGACCTGGTTAGGATCCAAGGCAAAGATCTGCTCACTCCGGTATCTCGCATCCTCATTGGTAATCCAGGCTGCACCTACAAGTACCTGAACACCAGGCTCTTTACGGTCCCCTGGCCAGTGAAAGGGTCTAATATAAAACACACCGAGGCTGAAATAGCCGCTGCTTGTGAGACCTTCCTCAAGCTCAATGACTACCTGCAGATAGAAACCATCCAGGCTTTGGAAGAACTTGCTGCCAAAGAGAAGGCTAATGAGGATGCTGTGCCATTGTGTATGTCTGCAGATTTCCCCAGGGTTGGGATGGGTTCATCCTACAACGGACAAGATGAAGTGGACATTAAGAGCAGAGCAGCATACAACGTAACTTTGCTGAATTTCATGGATCCTCAGAAAATGCCATACCTGAAAGAGGAACCTTATTTTGGCATGGGGAAAATGGCAGTGAGCTGGCATCATGATGAAAATCTGGTGGACAGGTCAGCGGTGGCAGTGTACAGTTATAGCTGTGAAG___GCCCTGAAGAGGAAAGTGAGGATGACTCTCATCTCGAAGGCAGGGATCCTGATATTTGGCATGTTGGTTTTAAGATCTCATGGGACATAGAGACACCTGGTTTGGCGATACCCCTTCACCAAGGAGACTGCTATTTCATGCTTG___ATGATCTCAATGCCACCCACCAACACTGTGTTTTGGCCGGTTCACAACCTCGGTTTAGTTCCACCCACCGAGTGGCAGAG___TGCTCAACAGGAACCTTGGATTATATTTTACAACGCTGTCAGTTGGCTCTGCAGAATGTCTGTGACGATGTGGACAATGATGATGTCTCTTTGAAATCCTTTGAGCCTGCAGTTTTGA)AACAAGGAGAAGAAATTCATAATGAG___GTCGAGTTTGAGTGGCTGAGGCAGTTTTGGTTTCAAGGCAATCGATACAGAAAGTGCACTGACTGGTGGTGTCAgCCCATGGCTCAACTGGAAGCACTGTGGAAGAAGATGGAGGGTGTG___ACAAATGCTGTGCTTCATGAAGTTAAAAGAGAGGGGCTCCCCGTGGAACAAAGGAATGAAATCTTGACTGCCATCCTTGCCTCGCTCACTGCACGCCAGAACCTGAGGAGAGAATGGCATGCCAG|AACTCTGTGTGTTTTGGGTAAACACACGAAGAAGTGACATGAAACAGAAGTTGGAATCATTATGGTTAACCTGAGCATGTTGGAAACCAAGGATCAGCAGAATGTTATTATACACAACCCATAAATTGGAGTGAATGGTAAAACTAGAACAAGCATGAACTACTTACATTGCAAAATAGGCAGCAAAGTCTGGACAAAGACACCA MKRTPTAEEREREAKKLRLLEELEDTWLPYLTPKDDEFYQQWQLKYPKLILREASSVSEELHKEVQEAFLTLHKHGCLFRDLVRIQGKDLLTPVSRILIGNPGCTYKYLNTRLFTVPWPVKGSNIKHTEAEIAAACETFLKLNDYLQIETIQALEELAAKEKANEDAVPLCMSADFPRVGMGSSYNGQDEVDIKSRAAYNVTLLNFMDPQKMPYLKEEPYFGMGKMAVSWHHDENLVDRSAVAVYSYSCEGPEEESEDDSHLEGRDPDIWHVGFKISWDIETPGLAIPLHQGDCYFMLDDLNATHQHCVLAGSQPRFSSTHRVAECSTGTLDYILQRCQLALQNVCDDVDNDDVSLKSFEPAVLKQGEEIHNEVEFEWLRQFWFQGNRYRKCTDWWCQPMAQLEALWKKMEGVTNAVLHEVKREGLPVEQRNEILTAILASLTARQNLRREWHAr|tlcvlgkhtkk* 18BR002 ENSG00000135040.16 ENSG00000130045.16(44831),ENSG00000228189.5(6573) +/+ ./+ chr9:85978381 chr9:88620620 CDS/splice-site intergenic deletion 3 4 0 80 7 high out-of-frame . Mak10_subunit__NatC_N(alpha)-terminal_acetyltransferase(100%)| . . ENSG00000135040.16 . ENST00000361671.10 . downstream upstream . ^(ATACGCATGCGTGCACGCTGCCGGTCGGGCTGGGCTGAGAGGGGAGGGGGCGGCGGCGGCCGAGGCGGCGTCGTTATTTCCGTGGTCCGGACAGTGCGTGGCGGCGCGGGTGACCACGGGAGAAGTAG___GCATAATGGTTATGAAAGCTTCTGTAGATGATGACGATTCAGGATGGGAGCTCAGTATGCCAGAAAAAATGGAGAAAAGCAATACAAACTGGGTGGACATTACCCAAGATTTTGAAGAAGCTTGTCGAG___AATTAAAGTTGGGAGAACTACTTCATGATAAGCT___ATTTGGTCTTTTTGAAGCCATGTCTGCTATTGAAATGATGGATCCCAAGATGGATGCTGGCATGATTGGAAACCAAGTTAATCGAAAAGTTCTCAATTTTGAACAAGCTATCAAG___GATGGCACTATTAAAATTAAAGATCTCACCTTGCCTGAACTGATAGGGATTATGGATACATGTTTTTGCTGTTTG___ATAACGTGGTTAGAAGGCCATTCACTGGCACAGACAGTATTTACGTGCCTTTACATTCATAATCCAGACTTTATAGAAGATCCTGCTATGAAGGCTTTTGCTCTGGGAATCTTGAAAATCTGTGACATTGCAAGGGAAAAAGTAAATAAAGCTGCTGTTTTTGAAGAG___GAAGATTTTCAGTCAATGACTTATGGATTTAAAATGGCTAACAGTGTGACAGATCTTCGAGTTACAG___GCATGCTAAAAGATGTGGAGGATGACATGCAAAGAAGAGTAAAG___AGTACTCGAAGTCGACAAGGAGAAGAAAGAGATCCAGAAGTTGAACTAGAA___CACCAACAATGTTTAGCAGTATTCAGCAGAGTGAAATTTACT)CGTGTGTTACTGACAGTGCTTATAGCCTTTACTAAGAAAGAG___ACCAGTGCTGTTGCAGAAGCTCAAAAATTGATGGTTCAAGCAGCAGATCTTCTTTCTGCCATTCATAATTCATTGCATCATGGCATCCAGGCCCAGAATGATACTACAAAAGGAG|GTTAATTCTCCTGTGGATCCTTGGCTGAGGAAAGCTGTGATGAGAAAGCCCTGGGAACTGAATTAGGTCTTCTGAGACTTCTGAGCCAGTCATTCATTCAACAGAAAATTATTTACCACTTCTCTATGACAAGGTACTGTGGGAGGCTATGGATGAAGGATTCCTACCCTGGAGAGGTGAATAGCACCATAGGCATTGCTAACGTCAAGTTTGCGCACGCTATCAGAG...___GATGTACAGGAAACATGGTGTTGGCATCTGCTTCTGGTGAGGGCCTCAGCAAGCTTCTAATGATGGTGGAATGTGAAGAaGGAG MVMKASVDDDDSGWELSMPEKMEKSNTNWVDITQDFEEACRELKLGELLHDKLFGLFEAMSAIEMMDPKMDAGMIGNQVNRKVLNFEQAIKDGTIKIKDLTLPELIGIMDTCFCCLITWLEGHSLAQTVFTCLYIHNPDFIEDPAMKAFALGILKICDIAREKVNKAAVFEEEDFQSMTYGFKMANSVTDLRVTGMLKDVEDDMQRRVKSTRSRQGEERDPEVELEHQQCLAVFSRVKFTRVLLTVLIAFTKKETSAVAEAQKLMVQAADLLSAIHNSLHHGIQAQNDTTKG|g* 18BR002 ENSG00000232815.1 ENSG00000227582.2 -/+ -/- chr9:63817907 chr9:62862193 exon exon/splice-site inversion/3'-3' 2 5 0 27 10 high . . . . . ENSG00000232815.1 ENSG00000227582.2 . ENST00000590130.1 downstream downstream . GTTCCAGCAAAGCGGGCTCTTCCACGTCCTTCAGCTCCCCCAGTGGCGCCGGATCTAGGAAAGGTTGTGCCTTTTGCTGAAACTCTGGGGTTGACAGGAGCTCATCTAACAGGCTGGAG|CACGTGCTCTCTACGGTTAATGTCATCCTTGGGAAGCCCGTCTTGAACACCTGGAAGGTTTTACAACAGCAACGGACCAAGCAGAGTTCACAGCTACTACATTCAGTGGGAAGGTTTTCCCAAGCACTACAATTAGGAGATAGCCCTCCTTTGTCCTTCTCCCAAACTAATGTGCAGATGAGCAGCATGGTAATCATGTCCAGCC(ACCCAAAAACCTATCAACAGAGGTTTGTTTTCCCATACTTTGACCTCTGGGGCAATGTGGTCATTGACAAGAGCTATCTAGAAAACTTGCCATCAGATTCACCTATTGTCACCATGGCTTTCCCAACTCTCCAAGCCATCCTTGCCCAGGGTATCCAGGAAAATAATTTTGCAGAGAGCTTAGTGATGACGACCACTGTCAGCCATAATGTGACTATGCCATTCAGCATTTCAATGACTTTTAAGAACAACAGCCCTTCAGGCGGCGAAACAACATGTGTCTTCTGGAACTTCAGGCTTTCCAACAACACGGGGGGTGGGACAGCAGTGGGTGCTATGTTGAAGAAGGTGATGGGGACAATGTCACCTGTATCTGTGACTACCTAACATCATTCTCCATTCTCAAGTCCCCTGACTCCCCAGATCCTGGTTCTCTCCTGGGAATACTACTGGATATTATTTCTTATGTTGGGGTGGGCTTTTCCATCTTCAGCTTGGCGGCCTGTCTAGTTGTGGAAACTGTGGTGTGGAAATCAGTGACCAAGAACCAGACTTCCTATATGCGCCACATCTGCATAGTGAATGTTGCTGCCTCCCTTCTGGTCGCC)$ . 18BR002 ENSG00000090863.12 ENSG00000103051.20 -/- -/- chr16:74532121 chr16:70501091 CDS/splice-site CDS/splice-site deletion 3 4 0 52 113 high out-of-frame . Cysteine_rich_repeat(100%)| . . ENSG00000090863.12 ENSG00000103051.20 ENST00000205061.9 ENST00000674443.1 upstream downstream . ^(GAGCTCGCCGCGGACTCAAGATGGCGGCGTGTGGACGTGTACGGAGGATGTTCCGCTTGTCGGCGGCGCTGCATCTGCTGCTGCTATTCGCGGCCGGGGCCGAGAAACTCCCCGGCCAGGGCGTCCACAGCCAGGGCCAGGGTCCCGGGGCCAACTTTGTGTCCTTCGTAGGGCAGGCCGGAGGCGGCGGCCCGGCGGGTCAGCAGCTGCCCCAGCTGCCTCAGTCATCGCAGCTTCAGCAGCAACAGCAGCAGCAGCAACAGCAACAGCAGCCTCAGCCGCCGCAGCCGCCTTTCCCGGCGGGTGGGCCTCCGGCCCGGCGGGGAGGAGCGGGGGCTGGTGGGGGCTGGAAGCTGGCGGAGGAAGAGTCCTGCAGGGAGGACGTGACC)CGCGTGTGCCCTAAGCACACCTGGAGCAACAACCTGGCGGTGCTCGAGTGCCTGCAGGATGTGAGGGAG___CCTGAAAATGAAATTTCTTCAGACTGCAATCAT|AGAACTGGACCCCATCCTGACTGAGGTCACCCTGATGAATGCCCGCAGTGAGCTATACTTACGCTTCCTCAAGAAGAGGATTAGCTCTGATTTTGAGGTGGGAGACTCCATGGCCTCAGAGGAAGTAAAGCAAG___AGCACCAGAAGTGTCT(GGACAAACTCCTCAATAACTGCCTTTTGAGCTGTACCATGCAGGAGCTAATTGGCTTATATGTTACCATGGAGGAGTACTTCATGAGGGAGACTGTCAATAAG___GCTGTGGCTCTGGACACCTATGAGAAGGGCCAGCTGACATCCAGCATGGTGGATGATGTCTTCTACATTGTTAAGAAGTGCATTGGGCGGGCTCTGTCCAGCTCCAGCATTGACTGTCTCTGTGCCATGATCAACCTCGCCACCACAGAGCTGGAGTCTGACTTCAG___GGATGTTCTGTGTAATAAGCTGCGGATGGGCTTTCCTGCCACCACCTTCCAGGACATCCAGCGCGGGGTGACAAGTGCCGTGAACATCATGCACAGCAGCCTCCAGCAAGGCAAATTTGACACAAAAGGCATCGAGAGTACTGACGAGGCGAAGATGTCCTTCCTG___AGTGACTGCACCAAGCTCTTCAGCCAGGGCATTGGAGGGGAGCAGGCCCAGGCCAAGTTTGACAGCTGCCTTTCTGACTTGGCCGCCGTGTCCAACAAATTCCGAGACCTCTTGCAG___GAAGGGCTGACGGAGCTCAACAGCACAGCCATCAAGCCACAGGTGCAGCCTTGGATCAACAGCTTTTTCTCCGTCTCCCACAACATCGAGGAG___GAAGAATTCAATGACTATGAGGCCAACGACCCTTGGGTACAACAGTTCATCCTTAACCTGGAGCAGCAAATGGCAGAGTTCAAG___GCCAGCCTGTCCCCGGTCATCTACGACAGCCTAACCGGCCTCATGACTAGCCTTGTTGCCGTCGAGTTGGAGAAAGTGGTGCTGAAATCCACCTTTAACCGG___CTGGGTGGTCTGCAGTTTGACAAGGAGCTGAGGTCGCTCATTGCCTACCTTACCACGGTGACCACCTGGACCATCCGAGACAAGTTTGCCCGGCTCTCCCAGATGGCCACCATCCTCAATCTGGAGCGG___GTGACCGAGATCCTCGATTACTGGGGACCCAATTCCGGCCCATTGACGTGGCGCCTCACCCCTGCTGAAGTGCGCCAGGTGCTGGCCCTGCGGATAGACTTCCGCAGTGAAGATATCAAGAGGCTGCGCCTGTAGCTGCCTGGATGAGCACACCTGGCTCATCACACTTGCAGGCCTGTTCCCTAAGGGGCCCCAGCCAAGGAGCTGAGCGAGGCTGTCTGGCTTGGGGGAGATCTGACAGCCCAGACCTTTCTACGGCTGGCAGCAGAGAAACAAAGTCTGGACCCACTCCATGCTCTGCCCTCAGACCTGGCCAGGTGATGCTCTGGGGGCAGCATCTCCCCACCGAGAGAAGCGGGCTCCTAATGAGGTGGGAAAGCCACGGCAGGCAGCGAGCAGCCCAGGCCAGCTTTCTGCATGGATGGTCAGTCTCTTGCCCTCAAACACTACAGCAAACAAGCTACCCCTGCCAGTCCTAGACAACTTGGGTACATCTGGGGACCTAGCAGTTAGGCTTGACTTTGAGGAGAGGCTGTGATGTTTATGATCCCTGAATAAAGCTACTCCTTGGA)$ MAACGRVRRMFRLSAALHLLLLFAAGAEKLPGQGVHSQGQGPGANFVSFVGQAGGGGPAGQQLPQLPQSSQLQQQQQQQQQQQQPQPPQPPFPAGGPPARRGGAGAGGGWKLAEEESCREDVTRVCPKHTWSNNLAVLECLQDVREPENEISSDCNH|rtgphpd* 18BR002 ENSG00000259305.6 ENSG00000156802.13 -/- -/- chr8:123239049 chr8:123339446 CDS/splice-site CDS/splice-site duplication 3 4 0 85 39 high in-frame . |Bromodomain(100%) . . ENSG00000259305.6 ENSG00000156802.13 ENST00000357082.8 ENST00000521903.5 upstream downstream . ^(GGAGAAGACAGACTGCTGCTTTGGACCTGTTGGTAATGATGGCCTGAGCTAAACATCTAACTAGAAGGGATACCCTTCCATTTCAAAGAACAGAATGCTAAGGAAGCTGTGGCAA___)TGGTTTTATGAAGAAACAGAAAGCAGTGATGATGTTGAAGTGCTGACTCTCAAGAAATTCAAAGGAGACCTGGCCTACAGACGACAAGAGTATCAG|GTGCAAGAATTGTTTATCCGTGATTATGGAGAGATTTTTAATGTCCAGTTACCGGATAAAGAAGAACGGACAAAATTTTTTGAAGATTTAATTCTAAAACAAGCTGCTAAGCCTCCTATATCAAAAAAGAAAGCAG___TTTTGCAGGCTTTGGAGGTACTCCCAGTAGCACCACCACCTGAGCCAAGATCACTGACAGCAGAAGAAGTGAAACGACTAGAAGAACAAG(AAGAAGATACATTTAGAGAACTGAGGATTTTCTTAAGAAATGTTACACATAGGCTTGCTATTGACAAGCGATTCCGAGTGTTTACTAAGCCTGTTGACCCTGATGAG___GTTCCTGATTATGTCACTGTAATAAAGCAACCAATGGACCTTTCATCTGTAATCAGTAAAATTGATCTACACAAGTATCTGACTGTGAAAGACTATTTGAGAGATATTGATCTAATCTGTAGTAATGCCTTAGAATACAATCCAGATAGAGATCCTGGAG___ATCGTCTTATTAGGCATAGAGCCTGTGCTTTAAGAGATACTGCCTATGCCATAATTAAAGAAGAACTTGATGAAGACTTTGAGCAGCTCTGTGAAGAAATTCAGGAATCTAGAAAGAAAAGAG___GTTGTAGCTCCTCCAAATATGCCCCGTCTTACTACCATGTGATGCCAAAGCAAAATTCCACTCTTGTTGGTGATAAAAGATCAGACCCAGAGCAGAATGAAAAGCTAAAGACACCGAGTACTCCTGTGGCTTGCAGCACTCCTG___CTCAGTTGAAGAGGAAAATTCGCAAAAAGTCAAACTGGTACTTAGGCACCATAAAAAAGCGAAGGAAGATTTCACAGGCAAAGGATGATAGCCAGAATGCCATAGATCACAAAATTGAGAGTGATACAGAGGAAACTCAAGACACAAGTGTAGATCATAATGAGACCGGAAACACAGGAGAGTCTTCGGTGGAAGAAAATGAAAAACAGCAAAATGCCTCTGAAAGCAAACTGGAATTGAGAAATAATTCAAATACTTGTAATATAGAGAATGAGCTTGAAGACTCTAGGAAGACTACAGCATGTACAGAATTGAGAGACAAGATTGCTTGTAATGGAGATGCTTCTAGCTCTCAGATAATACATATTTCTGATGAAAATGAAGGAAAAG___AAATGTGTGTTCTGCGAATGACTCGAGCTAGACGTTCCCAGGTAGAACAGCAGCAGCTCATCACTGTTGAAAAGGCTTTGGCAATTCTTTCTCAGCCTACACCCTCACTTGTTGTGGATCATGAGCGATTAAAA___AATCTTTTGAAGACTGTTGTTAAAAAAAGTCAAAACTACAACATATTTCAGTTGGAAAATTTGTATGCAGTAATCAGCCAATGTATTTATCGGCATCGCAAGGACCATGATAAAACATCACTTATTCAG___AAAATGGAGCAAGAGGTAGAAAACTTCAGTTGTTCCAGATGATGATGTCATGGTATCGAGTATTCTTTATATTCAGTTCCTATTTAAGTCATTTTTGTCATGTCCGCCTAATTGATGTAGTATGAAACCCTGCATCTTTAAGGAAAAGATTAAAATAGTAAAATAAAAGTATTTAAACTTTCCTGATATTTATGTACATATTAAGATAAATGTCATGTGTAAGATAACTGATAAATATTGGAACTTTGCTAGAACAAGACCCTGTAGTAATAGTAATAATAGTTGAAGTTTGGCCAACTCTTAATAAAGTTATTTTGGTAACTAATGTTTTATGGCACTTAAGAATAATTAGCAGCGTTAAATTTTGTTTGTATTAAGCACTTTTAATTTTATCCTTCCTAAAAATAGTTTATTGTATCTGACAAGAAACTTACTTAACCATTGTGTCCTTCCCATCTTTTTTGTCATCTTTGTTTTCTTCAAATGCCCTCCTCCCATCTGCCTTGAGATTCCCTCGTCTTCACTTAAAAGCCAGAGTGCAAGTCATGATTTGCGGGAGGGCTCTTGAACCACTTCTGGCTGCACCACAATTCTGTACTTGAGTATCACAGTCATTGTTTTTGAGACAAACATTTTTATAATTCTAATTTGGGTTAATAAAGATTTTAAATATT)$ MLRKLWQWFYEETESSDDVEVLTLKKFKGDLAYRRQEYQ|VQELFIRDYGEIFNVQLPDKEERTKFFEDLILKQAAKPPISKKKAVLQALEVLPVAPPPEPRSLTAEEVKRLEEQEEDTFRELRIFLRNVTHRLAIDKRFRVFTKPVDPDEVPDYVTVIKQPMDLSSVISKIDLHKYLTVKDYLRDIDLICSNALEYNPDRDPGDRLIRHRACALRDTAYAIIKEELDEDFEQLCEEIQESRKKRGCSSSKYAPSYYHVMPKQNSTLVGDKRSDPEQNEKLKTPSTPVACSTPAQLKRKIRKKSNWYLGTIKKRRKISQAKDDSQNAIDHKIESDTEETQDTSVDHNETGNTGESSVEENEKQQNASESKLELRNNSNTCNIENELEDSRKTTACTELRDKIACNGDASSSQIIHISDENEGKEMCVLRMTRARRSQVEQQQLITVEKALAILSQPTPSLVVDHERLKNLLKTVVKKSQNYNIFQLENLYAVISQCIYRHRKDHDKTSLIQKMEQEVENFSCSR* 18BR002 ENSG00000189376.12 ENSG00000156802.13 -/- -/- chr8:123239049 chr8:123339446 CDS/splice-site CDS/splice-site duplication 3 4 0 85 39 high in-frame . |Bromodomain(100%) . . ENSG00000189376.12 ENSG00000156802.13 ENST00000276704.6 ENST00000521903.5 upstream downstream . ^(GCTTCCTCGTTGCCCCCGCCGCGGGCGCGAGATGGATTCCGGGTGCTGGTTGTTCGGCGGCGAGTTCGAGGACTCGGTGTTCGAGGAGAGGCCGGAGCGGCGGTCAGGACCGCCCGCGTCCTACTGCGCCAAGCTCTGCGA)GCCGCAG___TGGTTTTATGAAGAAACAGAAAGCAGTGATGATGTTGAAGTGCTGACTCTCAAGAAATTCAAAGGAGACCTGGCCTACAGACGACAAGAGTATCAG|GTGCAAGAATTGTTTATCCGTGATTATGGAGAGATTTTTAATGTCCAGTTACCGGATAAAGAAGAACGGACAAAATTTTTTGAAGATTTAATTCTAAAACAAGCTGCTAAGCCTCCTATATCAAAAAAGAAAGCAG___TTTTGCAGGCTTTGGAGGTACTCCCAGTAGCACCACCACCTGAGCCAAGATCACTGACAGCAGAAGAAGTGAAACGACTAGAAGAACAAG(AAGAAGATACATTTAGAGAACTGAGGATTTTCTTAAGAAATGTTACACATAGGCTTGCTATTGACAAGCGATTCCGAGTGTTTACTAAGCCTGTTGACCCTGATGAG___GTTCCTGATTATGTCACTGTAATAAAGCAACCAATGGACCTTTCATCTGTAATCAGTAAAATTGATCTACACAAGTATCTGACTGTGAAAGACTATTTGAGAGATATTGATCTAATCTGTAGTAATGCCTTAGAATACAATCCAGATAGAGATCCTGGAG___ATCGTCTTATTAGGCATAGAGCCTGTGCTTTAAGAGATACTGCCTATGCCATAATTAAAGAAGAACTTGATGAAGACTTTGAGCAGCTCTGTGAAGAAATTCAGGAATCTAGAAAGAAAAGAG___GTTGTAGCTCCTCCAAATATGCCCCGTCTTACTACCATGTGATGCCAAAGCAAAATTCCACTCTTGTTGGTGATAAAAGATCAGACCCAGAGCAGAATGAAAAGCTAAAGACACCGAGTACTCCTGTGGCTTGCAGCACTCCTG___CTCAGTTGAAGAGGAAAATTCGCAAAAAGTCAAACTGGTACTTAGGCACCATAAAAAAGCGAAGGAAGATTTCACAGGCAAAGGATGATAGCCAGAATGCCATAGATCACAAAATTGAGAGTGATACAGAGGAAACTCAAGACACAAGTGTAGATCATAATGAGACCGGAAACACAGGAGAGTCTTCGGTGGAAGAAAATGAAAAACAGCAAAATGCCTCTGAAAGCAAACTGGAATTGAGAAATAATTCAAATACTTGTAATATAGAGAATGAGCTTGAAGACTCTAGGAAGACTACAGCATGTACAGAATTGAGAGACAAGATTGCTTGTAATGGAGATGCTTCTAGCTCTCAGATAATACATATTTCTGATGAAAATGAAGGAAAAG___AAATGTGTGTTCTGCGAATGACTCGAGCTAGACGTTCCCAGGTAGAACAGCAGCAGCTCATCACTGTTGAAAAGGCTTTGGCAATTCTTTCTCAGCCTACACCCTCACTTGTTGTGGATCATGAGCGATTAAAA___AATCTTTTGAAGACTGTTGTTAAAAAAAGTCAAAACTACAACATATTTCAGTTGGAAAATTTGTATGCAGTAATCAGCCAATGTATTTATCGGCATCGCAAGGACCATGATAAAACATCACTTATTCAG___AAAATGGAGCAAGAGGTAGAAAACTTCAGTTGTTCCAGATGATGATGTCATGGTATCGAGTATTCTTTATATTCAGTTCCTATTTAAGTCATTTTTGTCATGTCCGCCTAATTGATGTAGTATGAAACCCTGCATCTTTAAGGAAAAGATTAAAATAGTAAAATAAAAGTATTTAAACTTTCCTGATATTTATGTACATATTAAGATAAATGTCATGTGTAAGATAACTGATAAATATTGGAACTTTGCTAGAACAAGACCCTGTAGTAATAGTAATAATAGTTGAAGTTTGGCCAACTCTTAATAAAGTTATTTTGGTAACTAATGTTTTATGGCACTTAAGAATAATTAGCAGCGTTAAATTTTGTTTGTATTAAGCACTTTTAATTTTATCCTTCCTAAAAATAGTTTATTGTATCTGACAAGAAACTTACTTAACCATTGTGTCCTTCCCATCTTTTTTGTCATCTTTGTTTTCTTCAAATGCCCTCCTCCCATCTGCCTTGAGATTCCCTCGTCTTCACTTAAAAGCCAGAGTGCAAGTCATGATTTGCGGGAGGGCTCTTGAACCACTTCTGGCTGCACCACAATTCTGTACTTGAGTATCACAGTCATTGTTTTTGAGACAAACATTTTTATAATTCTAATTTGGGTTAATAAAGATTTTAAATATT)$ MDSGCWLFGGEFEDSVFEERPERRSGPPASYCAKLCEPQWFYEETESSDDVEVLTLKKFKGDLAYRRQEYQ|VQELFIRDYGEIFNVQLPDKEERTKFFEDLILKQAAKPPISKKKAVLQALEVLPVAPPPEPRSLTAEEVKRLEEQEEDTFRELRIFLRNVTHRLAIDKRFRVFTKPVDPDEVPDYVTVIKQPMDLSSVISKIDLHKYLTVKDYLRDIDLICSNALEYNPDRDPGDRLIRHRACALRDTAYAIIKEELDEDFEQLCEEIQESRKKRGCSSSKYAPSYYHVMPKQNSTLVGDKRSDPEQNEKLKTPSTPVACSTPAQLKRKIRKKSNWYLGTIKKRRKISQAKDDSQNAIDHKIESDTEETQDTSVDHNETGNTGESSVEENEKQQNASESKLELRNNSNTCNIENELEDSRKTTACTELRDKIACNGDASSSQIIHISDENEGKEMCVLRMTRARRSQVEQQQLITVEKALAILSQPTPSLVVDHERLKNLLKTVVKKSQNYNIFQLENLYAVISQCIYRHRKDHDKTSLIQKMEQEVENFSCSR* 18BR002 ENSG00000103274.11 ENSG00000262381.1(10817),ENSG00000103274.11(7729) +/+ ./+ chr16:10761859 chr16:10736113 CDS/splice-site intergenic duplication 1 6 0 109 15 high out-of-frame . NUBPL_iron-transfer_P-loop_NTPase(100%)| . . ENSG00000103274.11 . ENST00000283027.10 . downstream upstream duplicates(1) ^(CGAAGGCGGCAAAGGCGACGGAATGGAGGAGGTGCCTCACG___ACTGTCCAGGGGCCGACAGCGCCCAGGCGGGCAGAGGGGCTTCATGTCAGGGATGCCCCAACCAGCGGCTGTGCGCTTCTGGAGCGGGGGCCACTCCGGACACGG___CTATAGAGGAAATCAAAGAGAAAATGAAGACTGTAAAACACAAAATCTTGGTATTGTCTGGGAAAGGCGGTGTTGGGAAAAGCACATTCAGCGCCCACCTTGCCCATGGCCTAGCAGAGGATGAAAACACACAG___ATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAG___GTTCACCAGAGTGGCTCAGGCTGGTCTCCAGTG___TACGTGGAAGACAACCTGGGGGTGATGTCAGTGGGCTTCCTGCTCAGCAGTCCTGATGATGCTGTTATCTGGAGGGGACCCAAGAAAAACG___GCATGATCAAGCAGTTCCTCCGAGATGTGGACTGGGGAGAGGTCGACTACCTCATTGTGGACACCCCACCTGGGACGTCGGATGAACACCTCTCGGTCGTCCGGTACCTGGCCACAGCACACATCGATGGAGCAGTGATCATCACCACTCCCCAG___GAGGTGTCACTCCAGGATGTCCGGAAAGAAATCAACTTCTGCCGCAAGGTGAAGCTGCCCATCATCGGGGTGGTGGAGAACATGAGTGGCTTCATCTGTCCTAAGTGCAAG___AAAGAATCTCAGATATTCCCTCCCACAAC)CGGGGGCGCGGAGCTCATGTGCCAGGACTTGGAGGTCCCTCTCCTCGGCAGAGTGCCCCTGGATCCGCTCATAG|GTATTTAAGCAAGAGAAATGAAGATACACGTCACTATGAAGACCTGCACAAAAATGCTCACGGCAGCTTTATTTGTAACACCCCAAAACTGGAAACAGCCAAATGTCCATTAACAGATAAACTAGTATAATCATACAATGGAATACCACATAGCAACCAGAGGAAACGAGCTTCAcACACGCAACAATGTGGA MEEVPHDCPGADSAQAGRGASCQGCPNQRLCASGAGATPDTAIEEIKEKMKTVKHKILVLSGKGGVGKSTFSAHLAHGLAEDENTQIALLDIDICGPSIPKIMGLEGEQVHQSGSGWSPVYVEDNLGVMSVGFLLSSPDDAVIWRGPKKNGMIKQFLRDVDWGEVDYLIVDTPPGTSDEHLSVVRYLATAHIDGAVIITTPQEVSLQDVRKEINFCRKVKLPIIGVVENMSGFICPKCKKESQIFPPTTGGAELMCQDLEVPLLGRVPLDPLI|gi* 18BR002 ENSG00000183826.18 ENSG00000044090.10 -/- -/- chr6:38639800 chr6:43038987 5'UTR/splice-site CDS/splice-site duplication 1 4 0 12 83 high . . |Cullin_family(100%),Cullin_protein_neddylation_domain(100%) . . ENSG00000183826.18 ENSG00000044090.10 ENST00000481247.6 ENST00000535468.1 upstream downstream duplicates(2) ^(GCAGCAGCCGGGGCGGCGGCGAGGACGG)CGGCCACGGAAGCGGCCAAGGGGGCGGTGGCGCAGAGAGGGGTGCGGAGCGGGCGGAAGAGGCGTCTGTGTCGCAGCTTGGTCTCAGAGGAGCATCGCTGGG|GTCAGAGCCACCCTGCCCTTGAGCGAGGCTCACAGAGGCGACTGCAGTGGACGTGGCTGGGCTGGGCTGAGCTGCAGTTTGGGAACCAGACCCTGCATGTGTCCACCGTGCAGATGTGGCTACTGCTGTATCTCAACGACCTGAAG___GCGGTCTCTGTGGAGAGTCTGCTGGCG(TTCTCAGGGCTCTCCGCAGACATGCTCAATCAGGCGATTGGGCCCCTCACCTCTTCAAGAGGCCCCCTGGACCTTCACGAGCAAAAGGATATACCAGGAG___GGGTCCTCAAGATTCGAGATGGCAGCAAGGAACCCAGGTCGAGATGGGACATTGTGCGGCTCATCCCACCTCAGACGTACCTGCAAGCTGAGGGTGAAGACGGCCAGAACTTGGAGAAGAGACGGAATCTTCTGAACTGCCTCATCGTCCGAATCCTCAAGGCCCATGGAGATGAGGGGCTGCACATTGACCAGCTTGTCTGTCTG___GTGCTGGAGGCTTGGCAGAAGGGCCCGTGTCCTCCCAGGGGTTTGGTCAGCAGCCTTGGTAAGGGGTCTGCATGCAGCAGCACTGACGTCCTCTCCTGCATCCTACACCTCCTGGGCAAGGGCACGCTGAGACGCCATGACGACCGGCCCCAGGTGCTGTCCTATGCAGTCCCTGTGACTGTCATGGAGCCTCACACTGAGTCCCTGAACCCAGGCTCCTCAGGCCCCAACCCACCCCTCACCTTCCATACCCTACAGATTCGCTCCCGGGGTGTGCCCTATGCCTCCTGCACTGCCACCCAGAGCTTCTCTACCTTCCGGTAGCCCTAGACTTGGGGTCAGGGGAAGGTAGAGCTGGAGCTTTTACAGAAATAAAACCCAAGAGTTTGATT)$ . 18BR002 ENSG00000158669.11 ENSG00000201316.1(115736),ENSG00000253664.1(126787) +/+ ./- chr8:41578278 chr8:51130901 5'UTR/splice-site intergenic inversion 4 1 0 19 11 high . . . . . ENSG00000158669.11 . ENST00000396987.7 . downstream downstream . ^(GCA)GCTTGGGCCCGCGGCGGCGGCAAGGGCGGGAGGGAGCGGTCGCCGCGGGATTTGGAGCTGCCTAGCCTCGCGGTCG|ACAGACCACCAGTGTCACTGCCTGGACAGTCATCCCAACCCAAGGAGGAAAGAAGAAAACAAAATAAAG___ATATATCAGATCCAC . 18BR002 ENSG00000172493.21 ENSG00000138738.10 +/+ -/+ chr4:86948571 chr4:120781450 CDS/splice-site intron deletion/5'-5' 2 2 0 36 7 high out-of-frame . . . . ENSG00000172493.21 ENSG00000138738.10 ENST00000395146.8 . downstream upstream mismatches(1) ^(GAGCTTGCCAGCCAGCTAGCGAGCGACGGGCGCGCGCGGCCCCTGCGCACTCGGCCGCCGCCTGCGCGCGTTGCGGCCGCAGCTGCACCTTTGCCTCCGCGGTTCCGCAGCCGAGCCCCGGGAGGAGGCGCTCCCCTGCGTCGTCCGCACTTGCGCCCTTTCCC)ACCGCAACAGGTCAGGGGAGGGCGcAGGTGcgGAGGGCGgCCGACCCGGGACTAGAGGACGGAAGGGTCTGGAAG___ATGAACAGACTAGCCACTTTGCATTGACTGGAAACAATGGCATTTACAGAAAGAGTCAACAGCAGTGGCAACAG|TTCCATTATTTGCTAATTCACTGTGTGACcAGGCAGAAGTCCTTTCATCTTACATCTTCAGTCTTCTCAACTGGAAAACGTGGGGACTGAATcAGCAGAATTCTCAAAGTTACCATGAACATTTTTTAAAAGTATGTACTTCTACAGCGGG MAFTERVNSSGNs|siic* 18BR002 ENSG00000114331.15 ENSG00000224017.2(283911),ENSG00000122641.11(267696) -/- ./+ chr3:195392090 chr7:41417418 CDS/splice-site intergenic translocation 1 3 0 28 3 high out-of-frame . BAR_domain_of_APPL_family(100%)| . . ENSG00000114331.15 . ENST00000326793.11 . upstream upstream . ^(CTGACTAGTCGTCGCCGTCTTCGCGGCTGCTATGACCAGCGGGCGAGGCGCCCTTCGCAGCTCCGCGCAACGCTAGTCGCGGCCGTGCGCCCGCCGTAGCCGTCTGCGTCCCAGCGCGGCCGCTCCCGCGGCCCCCTCGGCTTTGCCAGCGCCGCCTGCGAGGCGGAGGCAGGATGAAGATGACTGTGGATTT)CGAGGAGTGTCTGAAGGACTCGCCCCGCTTCAG___GGCAGCTTTGGAAGAAGTAGAAGGTGATGTGGCAGAATTGGAACTAAAACTTGATAAG|TGACCCAGTACAGGCACTGGACTCTTCCTGCCTTTGGACATTGTCTGTGAGGACATAGTTTTGAGACTTCTGTGGCCAACCATGAGGGCAAGGACAAGAGAACTGAGGAGAAGCCCCCTTTGAATCCTTAGCTTCTGAGCTCACCAACTCTGGAAACAACCCGCCTCCAGACATCTTGCCAT___AAAGCAGACTCGCCTCTGCTGATCAACTTGGG MKMTVDFEECLKDSPRFRAALEEVEGDVAELELKLDK|* 18BR002 ENSG00000251888.1(3812),ENSG00000259873.1(238226) ENSG00000261049.2 ./+ -/- chr16:82196602 chr16:54034111 intergenic exon/splice-site inversion 0 3 1 4 4 high . . . . . . ENSG00000261049.2 . ENST00000563879.2 downstream downstream duplicates(1) AAACAGAGCTGATTGGtAAATGACTTTCTTTCTGTGGATAGAGTGTGtGGCTTTTTTATTACTTGGAAGATGGAGGAATCTCATTGGCTTGGGGAAAAGAGAAAGTTTGAGCAGGATCAAGAGCAGAGGTCATATAGATGGAAAGAAACGAAG|TTGTTTCAATGGCTTTTAAATTTGGCAAGTACTGCTACACTTTCCCGAAGTGACAGTGGGCCCTCGCAGCAACCCTCCTACCTGTACCCTCAGAAGTGATACTTACATAGCCCAG$ . 18BR002 ENSG00000113068.10 ENSG00000215262.8 -/- +/+ chr5:140300416 chr8:36905708 CDS/splice-site CDS/splice-site translocation 1 1 2 204 102 high in-frame . Prefoldin_subunit(100%)| . . ENSG00000113068.10 ENSG00000215262.8 ENST00000261813.9 ENST00000399881.8 upstream upstream . ^(ACTGCGCAGGCGCTTACAGTGCA)CCAAGATGGCCGCCCCCGTGGATCTAGAGCTGAAGAAG___GCCTTCACAGAGCTTCAAGCCAAAGTTATTGACACTCAACAGAAGGTGAAGCTCGCAGACATACAGATTGAACAGCTAAACAGAACGAAAAAGCATGCACATCTTACAGATACAGAGATCATGACTTTGGTAGATGAGACTAACATGTATGAAGGTGTAGGAAGAAT|GACTCTTCAACATGATGTAGAACAAGATTCTGACCAGCTTGATAGCAGTGGGATGTTTCACTGGTGCAAACCAACCTCTTTGGACAAGGTGACTCTG___AGGAGACTCCAGGTTACACAAATGGACATAATGAGAAATCAAACTGCCGAAAAGTCCCTATCCTTACTGAACTGA___AAAATCCTTCCAACATTCACTTTATTGAACAGCTT(GGTGGACTGGAAGGGTCCCTCCAAGAAACAAATCTGCATCTCAGCACTGCCTTTTCTACGGGCACTGTTTTTTCCGGCAGCTTCTTGGATTCTCTGCTGGCCACG___GCCTTCTACAATTATCATGTCCTGGAATTGCTTCAGATGCTGGTGACAGGAGGAGTAAGTTCTCAGCTGGAACAACATTTAGATAAGGATAAAGTCTATGGTGTGGCAGATAGCTGCACGTCGCTCTTGTCTGGAAGAAACCGGTGTAAGCTGGGGCTTCTGTCCTTACACGAAACCATTTTATCAGACGTTAAT___CCAAGAAACACCTTTGGACAACTGTTCTGTGGCTCATTAGATCTTTTTGGAATCCTGTGTGTTGGCTTATACCGAATAATTGATGAAGAGGAGCTCAACCCAGAAAACAAAAG___GTTTGTGATCACCCGGCCAGCCAATGAGTTCAAGCTGCTGCCTTCAGATCTTGTGTTTTGTGCCATACCCTTCAGCACTGCTTGTTATAAAAGGAATGAAGAGTTCTCATTGCAAAAGTCATATGAAATTGTAAATAAAGCATCACAGACAACAGAGACACATTCAGACACAAATTGTCCTCCCACCATTGATTCAGTTACTGAGACATTGTATTCACCAGTCTATTCTTACCAGCCGAGAACTAACTCCCTCTCTTTTCCTAAGCAAATAGCATGGAATCAGAGTAGAACAAACAGTATTATATCATCTCAGATACCTTTAGGTGACAATGCAAAAGAAAATGAAAGGAAAACTTCAGATGAGGTTTATGATGAGGATCCCTTTGCATATTCAGAGCCACTATAGACCTGCCCATATTCTTCACGTGCTCTTAACTTGCTGCTTACAAATCATCTCCTGAGATGCTAACTTTGAACAAAGAAAATAAGAATGGAAGCATGCCATTTTTCTGCCCATTGCTTAGTGGTTCATGAAGGCCACACTGTTTTGGGTGAGACAAAAGTCTAATGCCACTGGATCTTGTGTGATAAATAAAGAAATATATGATCAA)$ MAAPVDLELKKAFTELQAKVIDTQQKVKLADIQIEQLNRTKKHAHLTDTEIMTLVDETNMYEGVGRm|TLQHDVEQDSDQLDSSGMFHWCKPTSLDKVTLRRLQVTQMDIMRNQTAEKSLSLLN* 18BR002 ENSG00000113068.10 ENSG00000215262.8 -/- +/+ chr5:140303041 chr8:36905708 CDS/splice-site CDS/splice-site translocation 0 21 0 115 102 medium out-of-frame . . . . ENSG00000113068.10 ENSG00000215262.8 ENST00000261813.9 ENST00000399881.8 upstream upstream duplicates(1) ^(ACTGCGCAGG)CGCTTACAGTGCACCAAGATGGCCGCCCCCGTGGATCTAGAGCTGAAGAAG|GACTCTTCAACATGATGTAGAACAAGATTCTGACCAGCTTGATAGCAGTGGGATGTTTCACTGGTGCAAACCAACCTCTTTGGACAAGGTGACTCTG___AGGAGACTCCAGGTTACACAAATGGACATAATGAGAAATCAAACTGCCGAAAAGTCCCTATCCTTACTGAACTGA___AAAATCCTTCCAACATTCACTTTATTGAACAGCTTGGTGGACTGGAAGGGTCCCTCCAAGAAACAAATCTGCATCTCAGC(ACTGCCTTTTCTACGGGCACTGTTTTTTCCGGCAGCTTCTTGGATTCTCTGCTGGCCACG___GCCTTCTACAATTATCATGTCCTGGAATTGCTTCAGATGCTGGTGACAGGAGGAGTAAGTTCTCAGCTGGAACAACATTTAGATAAGGATAAAGTCTATGGTGTGGCAGATAGCTGCACGTCGCTCTTGTCTGGAAGAAACCGGTGTAAGCTGGGGCTTCTGTCCTTACACGAAACCATTTTATCAGACGTTAAT___CCAAGAAACACCTTTGGACAACTGTTCTGTGGCTCATTAGATCTTTTTGGAATCCTGTGTGTTGGCTTATACCGAATAATTGATGAAGAGGAGCTCAACCCAGAAAACAAAAG___GTTTGTGATCACCCGGCCAGCCAATGAGTTCAAGCTGCTGCCTTCAGATCTTGTGTTTTGTGCCATACCCTTCAGCACTGCTTGTTATAAAAGGAATGAAGAGTTCTCATTGCAAAAGTCATATGAAATTGTAAATAAAGCATCACAGACAACAGAGACACATTCAGACACAAATTGTCCTCCCACCATTGATTCAGTTACTGAGACATTGTATTCACCAGTCTATTCTTACCAGCCGAGAACTAACTCCCTCTCTTTTCCTAAGCAAATAGCATGGAATCAGAGTAGAACAAACAGTATTATATCATCTCAGATACCTTTAGGTGACAATGCAAAAGAAAATGAAAGGAAAACTTCAGATGAGGTTTATGATGAGGATCCCTTTGCATATTCAGAGCCACTATAGACCTGCCCATATTCTTCACGTGCTCTTAACTTGCTGCTTACAAATCATCTCCTGAGATGCTAACTTTGAACAAAGAAAATAAGAATGGAAGCATGCCATTTTTCTGCCCATTGCTTAGTGGTTCATGAAGGCCACACTGTTTTGGGTGAGACAAAAGTCTAATGCCACTGGATCTTGTGTGATAAATAAAGAAATATATGATCAA)$ MAAPVDLELKK|dsst* 18BR002 ENSG00000102189.17 ENSG00000184613.10 -/- -/- chr12:92929043 chr12:44714741 CDS/splice-site CDS/splice-site deletion 1 2 0 5 8 high out-of-frame . |Calcium-binding_EGF_domain(100%),von_Willebrand_factor_type_C_domain(100%) . . ENSG00000102189.17 ENSG00000184613.10 ENST00000322349.13 ENST00000333837.8 upstream downstream duplicates(1) ^(GGAGGCGCTCGCAGGCTGCCTAGTCGTTCGCTCGCTCTCTCTCGCGTGCTCCCTCTCGCCGCCTGTGGGGAAGTCGGGGCCGCCCGAGCGGCCGTCGCCACCGCCTCGCCCCGACCTCCTTCCCGGTCCCCTCCCGGCCCAGT)CCCTCCCGCCCGCGCACCCCGAGTAGTGAGTGGCCCCGCGCAGGGTCTGGAGAGTCACCGCGGCGGCGCCGGGTGGTGGTTAAACCATGTTAAGGAGGATTTTACAGAGG|CGATATGCCAATTTCAAGGACGAACCTACTTTGAAGGAGAAAGAAATACAGTCTATTCCTCTTCTGGAGTATGTGTTCTCTATGAGTGCAAG___GACCAGACCATGAAACTTGTTGAGAGTTCAGGCTGTCCAGCTTTGGATTGTCCAGAGTCTCATCAGATAACCTTGTCTCACAGCTG(TTGCAAAGTTTGTAAAG___GTTATGACTTTTGTTCTGAAAGGCATAACTGCATGGAGAATTCCATCTGCAGAAATCTGAATGACAGGGCTGTTTGTAGCTGTCGAGATGGTTTTAGGGCTCTTCGAGAGGATAATGCCTACTGTGAAG___ACATCGATGAGTGTGCTGAAGGGCGCCATTACTGTCGTGAAAATACAATGTGTGTCAACACCCCGGGTTCTTTTATGTGCATCTGCAAAACTGGATACATCAGAATTGATGATTATTCATGTACAG___AACATGATGAGTGTATCACAAATCAGCACAACTGTGATGAAAATGCTTTATGCTTCAACACTGTTGGAGGACACAACTGTGTTTGCAAGCCGGGCTATACAGGGAATGGAACGACATGCAAAG___CATTTTGCAAAGATGGCTGTAGGAATGGAGGAGCCTGTATTGCCGCTAATGTGTGTGCCTGCCCACAAGGCTTCACTGGACCCAGCTGTGAAACGG___ACATTGATGAATGCTCTGATGGTTTTGTTCAATGTGACAGTCGTGCTAATTGCATTAACCTGCCTGGATGGTACCACTGTGAGTGCAGAGATGGCTACCATGACAATGGGATGTTTTCACCAAGTGGAGAATCGTGTGAAG___ATATTGATGAGTGTGGGACCGGGAGGCACAGCTGTGCCAATGATACCATTTGCTTCAATTTGGATGGCGGATATGATTGTCGATGTCCTCATGGAAAGAATTGCACAGGGGACTGCATCCATGATGGAAAAGTTAAGCACAATGGTCAGATTTGGGTGTTGGAAAATGACAGGTGCTCTGTGTGCTCATGTCAG___AATGGATTCGTTATGTGTCGACGGATGGTCTGTGACTGTGAGAATCCCACAGTTGATCTTTTTTGCTGCCCTGAATGTGACCCAAGGCTTAGTAGTCAGTGCCTCCATCAAAATGGGGAAACTTTGTATAACAGTGGTGACACCTGGGTCCAGAATTGTCAACAGTGCCGCTGCTTG___CAAGGGGAAGTTGATTGTTGGCCCCTGCCTTGCCCAGATGTGGAGTGTGAATTCAGCATTCTCCCAGAGAATGAGTGCTGCCCGCGCTGTGTCACAGACCCTTGCCAGGCTGACACCATCCGCAATGACATCACCAAGACTTGCCTGGACGAAATGAATGTGGTTCGCTTCACCGGGTCCTCTTGGATCAAACATGGCACTGAGTGTACTCTCTGCCAGTGCAAG___AATGGCCACATCTGTTGCTCAGTGGATCCACAGTGCCTTCAGGAACTGTGAAGTTAACTGTCTCATGGGAGATTTCTGTTAAAAGAATGTTCTTTCATTAAAAGACCAAAAAGAAGTTAAAACTTAAATTGGGTGATTTGTGGGCAGCTAAATGCAGCTTTGTTAATAGCTGAGTGAACTTTCAATTATGAAATTTGTGGAGCTTGACAAAATCACAAAAGGAAAATTACTGGGGCAAAATTAGACCTCAAGTCTGCCTCTACTGTGTCTCACATCACCATGTAGAAGAATGGGCGTACAGTATATACCGTGACATCCTGAACCCTGGATAGAAAGCCTGAGCCCATTGGATCTGTGAAAGCCTCTAGCTTCACTGGTGCAG)$ MLRRILQR|ryanfkdeptlkekeiqsiplleyvfsmsartrp* 18BR002 ENSG00000171566.12 ENSG00000249041.1 -/- -/- chr4:154542187 chr4:154770494 CDS/splice-site exon/splice-site duplication 1 2 0 81 4 high out-of-frame . WD_domain__G-beta_repeat(100%)| . . ENSG00000171566.12 ENSG00000249041.1 ENST00000499023.7 ENST00000515071.1 upstream downstream . ^(AATTCCGGAAGGTGCTGCACAGCTGTGGCGGCGGGTACTGCGTTAGTGATTAGAGTTTCTTCCCTGCCGGAGGTGGGATACACGGTAGCATCATGGTCGAG___GAGGTACAGAAACATTCTGTACACACCCTTGTGTTCAGGTCGTTGAAGAGGACCCATGACATGTTTGTAGCTGATAATGGAAAACCTGTGCCTTTAGATGAAGAGAG___TCACAAACGAAAAATGGCAATCAAGCTTCGTAATGAGTATGGTCCTGTGTTGCATATGCCTACTTCAAAAGAAAATCTTAAAGAGAAGGGTCCTCAGAATGCAACGGATTCATATGTTCATAAACAGTACCCTGCCAATCAAG___GACAAGAAGTTGAATACTTTGTGGCAGGTACACATCCATACCCACCAGGACCTG___GGGTTGCTTTGACAGCAGATACTAAGATCCAGAGAATGCCAAGTGAATCAGCTGCACAGTCCTTAGCGGTGGCATTACCTTTGCAGACCAA___GGCTGATGCAAATCGTACTGCCCCTAGTGGAAGTGAATACCGACATCCTGGGGCTTCTGACCGTCCACAGCCTACAGCGATGAATTCA___ATTGTCATGGAGACTGGCAATACCAAGAACTCTGCACTGATGGCTAAAAAAGCCCCTACAATGCCAAAACCCCAGTGGCACCCACCGT)GGAAACTCTACAGG___GTTATCAGTGGGCATCTTGGCTGGGTTCGATGTATTGCTGTGGAACCTGGAAATCAGTGGTTTGTTACTGGATCTGCTGACAGAACTATAAAG|GTGAATGAGAATCAAGCAGATTCTCCTGAAACACATCCaCAAGCTGAAGGCAGAGAAGGCCTGCAAGAAGCCCCTGGCTAACCAGATAGGCCCCCAAGGTTAAGACCAAGGAAGTACAGGAGTGCCCCGAGGAGCCACTTCAGGCCAAGAAGGAGGTAACCAAGACTCTGTCCAAGCAGGAAGAGATGAAGACATGAAGG(CCCCCCTCTCTTAT___GTCTGTCATTGCAATAGGCCTGGAGGCCTTGAGAAGGATTGCACCATTGCCCACTCGTGGAGAGCCAGGGTGGTCCATTTGCCATCACTGCATCCCAGCTTCTCAGCATTGGACCAG___AAAATCACATGGTCCTAATACTCACGGGACCCAGTTGCAAAGTTTGGGAAATGCTTTCTTTCCTCTCCAAACTTTCACAATGCAAAGTCCTCCGTGAACTTGCCTCCTG)$ MVEEVQKHSVHTLVFRSLKRTHDMFVADNGKPVPLDEESHKRKMAIKLRNEYGPVLHMPTSKENLKEKGPQNATDSYVHKQYPANQGQEVEYFVAGTHPYPPGPGVALTADTKIQRMPSESAAQSLAVALPLQTKADANRTAPSGSEYRHPGASDRPQPTAMNSIVMETGNTKNSALMAKKAPTMPKPQWHPPWKLYRVISGHLGWVRCIAVEPGNQWFVTGSADRTIK|vnenqadspethpqaegreglqeapg* 18BR002 ENSG00000131503.21 ENSG00000287176.1 +/+ -/+ chr5:140464776 chr5:30590578 CDS/splice-site intron duplication/5'-5' 1 2 0 289 9 high out-of-frame . Ankyrin_repeats_(3_copies)(100%)| . . ENSG00000131503.21 ENSG00000287176.1 ENST00000360839.7 . downstream upstream . ^(AGTGAGAAGTTAGTGGCGCTGCTGGGACGGGGGAAAGGAGACGCTTCTTCCTCTTGCTGCTCTTCTCGTTCCCGAGATCAGCGGCGGCGGTGACCGCGAGTGGGTCGGCACCGTCTCCGGCTCCGGGTGCGAACAATGCTGACTGATAGCGGAGGCGGCGGCACCTCCTTTGAGGAGGACCTGGACTCTGTGGCTCCGCGATCCGCCCCAGCTGGGGCCTCGGAGCCGCCTCCGCCGGGAGGGGTCGGTCTGGGGATCCGCACCGTGAGGCTCTTTGGGGAGGCCGGGCCAGCGTCGGGAGTCGGCAGCAGCGGCGGCGGCGGCAGCGGCAGCGGTACGGGCGGAGGGGACGCGGCGCTGGATTTCAAGTTGGCGGCTGCCGTGCTGAGGACCGGGGGTGGAGGTGGTGCCTCTGGCAGTGACGAGGACGAAGTGTCCGAG___GTTGAATCATTTATTTTGGACCAAGAAGATCTGGATAACCCAGTGCTTAAAACAACATCAGAGATATTCTTATCAAGTACTGCAGAAGGAGCAGACTTACGCACTGTGGATCCAGAGACACAGGCACGACTAGAAGCATTGCTAGAAGCAGCAG___GAATTGGCAAATTGTCAACTGCTGATGGTAAAGCTTTTGCAGATCCTGAGGTACTCCGGAGACTGACATCCTCAGTTAGTTGTGCACTGGATGAAGCTGCTGCTGCACTGACACGGATGAAAGCAGAAAACAGCCACAATGCAGGACAAGTGGACAC___TCGCAGTCTAGCAGAAGCTTGTTCAGATGGGGATGTTAATGCTGTTCGTAAATTGCTAGATGAAGGCAGAAGTGTAAATGAACATACAGAAGAAGGAGAAAGCCTGCTGTGTTTGGCTTGTTCAGCAGGGTATTATGAATTAGCACAA___GTATTGCTTGCTATGCATGCTAATGTTGAAGATCGAGGGAATAAAGGAGACATAACTCCCCTGATGGCAGCTTCCAGTGGAGGTTACTTAGATATTGTGAAATTATTACTTCTTCATGATGCTGATGTCAACTCCCAGTCTGCAACAG___GAAACACTGCGCTAACTTATGCATGTGCTGGAGGATTTGTTGACATTGTTAAAGTGCTCCTTAATGAAGGTGCAAATATAGAAGATCATAATGAAAATGGACATACTCCCTTAATGGAAGCAGCCAGTGCAGGTCATGTGGAAGTTGCAAGAGTTCTTTTAGATCATGGTGCAGGCATCAACACTCATTCTAATGAATTCAAAGAAAGTGCTCTAACACTTGCTTGCTACAAAG___GCCATTTGGATATGGTTCGCTTTCTACTTGAAGCTGGTGCAGATCAAGAGCACAAAACAGATGAGATGCACACTGCCTTAATGGAGGCCTGCATG___GATGGACATGTAGAGGTGGCACGTTTGCTTTTGGATAGTGGTGCTCAAGTGAACATGCCTGCAGATTCATTTGAATCTCCATTGACGCTAGCTGCCTGTGGAGGACATGTTGAATTGGCAGCTCTACTTATTGAAAGGGGAGCAAATCTTGAAGAAGTTAATGATGAAGGATACACTCCCTTGATGGAAGCTGCCCGGGAAGGACATGAAGAAATGGTGGCACTACTCTTAGCACAAG___GAGCAAATATAAATGCCCAGACAGAAGAAACTCAAGAAACTGCTCTTACTTTGGCTTGCTGTGGAGGATTTTCTGAAGTTGCAGACTTTCTTATTAAGGCAGGGGCTGATATAGAACTTGGCTGCTCCACACCTCTGATGGAGGCATCTCAGGAGGGACACCTGGAATTGGTTAAATATTTGCTGGCTTCTG___)GCGCTAATGTGCATGCTACAACAGCAACAGGAGACACAGCCTTAACCTATGCTTGTGAAAATGGACATACGGATGTTGCAGATGTTTTACTTCAAGCAGGGGCTGATTTA|AGAAAATTCTACAGCTGGAGGCAGAAGAGATTCTGTAGAAGGGGAAGTCAGAGAGATTCAAAGCATAAAAAAGACACTACCTGCTGTATGGCTTTGAAGATGGTGGAACAAGGCCACTCGCCAAGGTACAAGGAGCCTCTAGAAAGCTGAACAGGATGTCAGCTGACAATCAACAAGAAAACAAGGACCTCACCCTTAAGACCAC MLTDSGGGGTSFEEDLDSVAPRSAPAGASEPPPPGGVGLGIRTVRLFGEAGPASGVGSSGGGGSGSGTGGGDAALDFKLAAAVLRTGGGGGASGSDEDEVSEVESFILDQEDLDNPVLKTTSEIFLSSTAEGADLRTVDPETQARLEALLEAAGIGKLSTADGKAFADPEVLRRLTSSVSCALDEAAAALTRMKAENSHNAGQVDTRSLAEACSDGDVNAVRKLLDEGRSVNEHTEEGESLLCLACSAGYYELAQVLLAMHANVEDRGNKGDITPLMAASSGGYLDIVKLLLLHDADVNSQSATGNTALTYACAGGFVDIVKVLLNEGANIEDHNENGHTPLMEAASAGHVEVARVLLDHGAGINTHSNEFKESALTLACYKGHLDMVRFLLEAGADQEHKTDEMHTALMEACMDGHVEVARLLLDSGAQVNMPADSFESPLTLAACGGHVELAALLIERGANLEEVNDEGYTPLMEAAREGHEEMVALLLAQGANINAQTEETQETALTLACCGGFSEVADFLIKAGADIELGCSTPLMEASQEGHLELVKYLLASGANVHATTATGDTALTYACENGHTDVADVLLQAGADL|rkfyswrqkrfcrrgsqrdskhkkdttccmalkmveqghsprykeples* 18BR002 ENSG00000254996.5 ENSG00000287176.1 +/+ -/+ chr5:140464776 chr5:30590578 CDS/splice-site intron duplication/5'-5' 1 2 0 289 9 high out-of-frame . Ankyrin_repeats_(3_copies)(100%)| . . ENSG00000254996.5 ENSG00000287176.1 ENST00000532219.5 . downstream upstream . ^(GATCAGCGGCGGCGGTGACCGCGAGTGGGTCGGCACCGTCTCCGGCTCCGGGTGCGAACAATGCTGACTGATAGCGGAGGCGGCGGCACCTCCTTTGAGGAGGACCTGGACTCTGTGGCTCCGCGATCCGCCCCAGCTGGGGCCTCGGAGCCGCCTCCGCCGGGAGGGGTCGGTCTGGGGATCCGCACCGTGAGGCTCTTTGGGGAGGCCGGGCCAGCGTCGGGAGTCGGCAGCAGCGGCGGCGGCGGCAGCGGCAGCGGTACGGGCGGAGGGGACGCGGCGCTGGATTTCAAGTTGGCGGCTGCCGTGCTGAGGACCGGGGGTGGAGGTGGTGCCTCTGGCAGTGACGAGGACGAAGTGTCCGAG___GTTGAATCATTTATTTTGGACCAAGAAGATCTGGATAACCCAGTGCTTAAAACAACATCAGAGATATTCTTATCAAGTACTGCAGAAGGAGCAGACTTACGCACTGTGGATCCAGAGACACAGGCACGACTAGAAGCATTGCTAGAAGCAGCAG___GAATTGGCAAATTGTCAACTGCTGATGGTAAAGCTTTTGCAGATCCTGAGGTACTCCGGAGACTGACATCCTCAGTTAGTTGTGCACTGGATGAAGCTGCTGCTGCACTGACACGGATGAAAGCAGAAAACAGCCACAATGCAGGACAAGTGGACAC___TCGCAGTCTAGCAGAAGCTTGTTCAGATGGGGATGTTAATGCTGTTCGTAAATTGCTAGATGAAGGCAGAAGTGTAAATGAACATACAGAAGAAGGAGAAAGCCTGCTGTGTTTGGCTTGTTCAGCAGGGTATTATGAATTAGCACAA___GTATTGCTTGCTATGCATGCTAATGTTGAAGATCGAGGGAATAAAGGAGACATAACTCCCCTGATGGCAGCTTCCAGTGGAGGTTACTTAGATATTGTGAAATTATTACTTCTTCATGATGCTGATGTCAACTCCCAGTCTGCAACAG___GAAACACTGCGCTAACTTATGCATGTGCTGGAGGATTTGTTGACATTGTTAAAGTGCTCCTTAATGAAGGTGCAAATATAGAAGATCATAATGAAAATGGACATACTCCCTTAATGGAAGCAGCCAGTGCAGGTCATGTGGAAGTTGCAAGAGTTCTTTTAGATCATGGTGCAGGCATCAACACTCATTCTAATGAATTCAAAGAAAGTGCTCTAACACTTGCTTGCTACAAAG___GCCATTTGGATATGGTTCGCTTTCTACTTGAAGCTGGTGCAGATCAAGAGCACAAAACAGATGAGATGCACACTGCCTTAATGGAGGCCTGCATG___GATGGACATGTAGAGGTGGCACGTTTGCTTTTGGATAGTGGTGCTCAAGTGAACATGCCTGCAGATTCATTTGAATCTCCATTGACGCTAGCTGCCTGTGGAGGACATGTTGAATTGGCAGCTCTACTTATTGAAAGGGGAGCAAATCTTGAAGAAGTTAATGATGAAGGATACACTCCCTTGATGGAAGCTGCCCGGGAAGGACATGAAGAAATGGTGGCACTACTCTTAGCACAAG___GAGCAAATATAAATGCCCAGACAGAAGAAACTCAAGAAACTGCTCTTACTTTGGCTTGCTGTGGAGGATTTTCTGAAGTTGCAGACTTTCTTATTAAGGCAGGGGCTGATATAGAACTTGGCTGCTCCACACCTCTGATGGAGGCATCTCAGGAGGGACACCTGGAATTGGTTAAATATTTGCTGGCTTCTG___)GCGCTAATGTGCATGCTACAACAGCAACAGGAGACACAGCCTTAACCTATGCTTGTGAAAATGGACATACGGATGTTGCAGATGTTTTACTTCAAGCAGGGGCTGATTTA|AGAAAATTCTACAGCTGGAGGCAGAAGAGATTCTGTAGAAGGGGAAGTCAGAGAGATTCAAAGCATAAAAAAGACACTACCTGCTGTATGGCTTTGAAGATGGTGGAACAAGGCCACTCGCCAAGGTACAAGGAGCCTCTAGAAAGCTGAACAGGATGTCAGCTGACAATCAACAAGAAAACAAGGACCTCACCCTTAAGACCAC MLTDSGGGGTSFEEDLDSVAPRSAPAGASEPPPPGGVGLGIRTVRLFGEAGPASGVGSSGGGGSGSGTGGGDAALDFKLAAAVLRTGGGGGASGSDEDEVSEVESFILDQEDLDNPVLKTTSEIFLSSTAEGADLRTVDPETQARLEALLEAAGIGKLSTADGKAFADPEVLRRLTSSVSCALDEAAAALTRMKAENSHNAGQVDTRSLAEACSDGDVNAVRKLLDEGRSVNEHTEEGESLLCLACSAGYYELAQVLLAMHANVEDRGNKGDITPLMAASSGGYLDIVKLLLLHDADVNSQSATGNTALTYACAGGFVDIVKVLLNEGANIEDHNENGHTPLMEAASAGHVEVARVLLDHGAGINTHSNEFKESALTLACYKGHLDMVRFLLEAGADQEHKTDEMHTALMEACMDGHVEVARLLLDSGAQVNMPADSFESPLTLAACGGHVELAALLIERGANLEEVNDEGYTPLMEAAREGHEEMVALLLAQGANINAQTEETQETALTLACCGGFSEVADFLIKAGADIELGCSTPLMEASQEGHLELVKYLLASGANVHATTATGDTALTYACENGHTDVADVLLQAGADL|rkfyswrqkrfcrrgsqrdskhkkdttccmalkmveqghsprykeples* 18BR002 ENSG00000103479.16 ENSG00000260057.6(164552),ENSG00000261190.5(52727) +/+ ./+ chr16:53465602 chr16:51952760 CDS/splice-site intergenic duplication 0 1 1 136 7 high out-of-frame . Domain_of_unknown_function_(DUF3452)(100%),Retinoblastoma-associated_protein_A_domain(100%)| . . ENSG00000103479.16 . ENST00000262133.11 . downstream upstream mismappers(3) ^(GGCGGACGGGCGGGCGCTTCGCCGTTTGAATGGCTGCGGGCCCGGGCCCTCACCTCACCTGAGGTCCGGCCGCCCAGGGGTGCGCTATGCCGTCGGGAGGTGACCAGTCGCCACCGCCCCCGCCTCCCCCTCCGGCGGCGGCAGCCTCGGATGAGGAGGAGGAGGACGACGGCGAGGCGGAAGACGCCGCGCCGCCTGCCGAGTCGCCCACCCCTCAGATCCAGCAGCGGTTCGACGAGCTGTGCAGCCGCCTCAACATGGACGAGGCGGCGCGGGCCGAGGCCTGGGACAGCTACCGCAGCATGAGCGAAAGCTACACGCTGGAG___GGAAATGATCTTCATTGGTTAGCATGTGCCTTATATGTGGCTTGCAGAAAATCTGTTCCAACTGTAAGCAAAGGGACAGTGGAAGGAAACTATGTATCTTTAACTAGAATCCTGAAATGTTCAGAGCAGAG___CTTAATCGAATTTTTTAATAAGATGAAGAAGTGGGAAGACATGGCAAATCTACCCCCACATTTCAGAGAACGTACTGAGAGATTAGAAAGAAACTTCACTGTTTCTGCTGTAATTTTTAAGAAATATGAACCCATTTTTCAGGACATCTTTAAATACCCTCAAGAGGAGCAACCTCGTCAGCAGCGAGGAAGGAAACAGCG___GCGACAGCCCTGTACTGTGTCTGAAATTTTCCATTTTTGTTGGGTGCTTTTTATATATGCAAAAG___GTAATTTCCCCATGATTAGTGATGATTTGGTCAATTCTTATCACCTGCTGCTGTGTGCTTTGGACTTAGTTTATGGAAATGCACTTCAGTGTTCTAATCGTAAAGAACTTGTGAACCCTAATTTTAAAG___GCTTATCTGAAGATTTTCATGCTAAAGATTCTAAACCTTCCTCTGACCCCCCTTGTATCATTGAGAAACTGTGTTCCTTACATGATGGCCTAGTTTTGGAAGCAAAGGGGATAAAGGAACATTTCTGGAAACCCTATATTAGGAAACTTTATGAAAAAAAG___CTCCTTAAGGGAAAAGAAGAAAATCTCACTGGGTTTCTAGAACCTGGGAACTTTGGAGAGAGTTT___TAAAGCCATCAATAAGGCCTATGAGGAGTATGTTTTATCTGTTGGGAATTTAGATGAGCGGATATTTCTTGGAGAGGATGCTGAGGAGGAAATTGGGACTCTCTCAAGGTGTCTGAACGCTGGTTCAGGAACAGAGACTGCTGAAAGGGTGCAGATGAAAAACATCTTACAGCAGCATTTTGACAAG___TCCAAAGCACTTAGAATCTCCACACCACTAACTGGTGTTAGGTACATTAAGGAGAATAGCCCTTGTGTGACTCCAGTTTCTACAGCTACGCATAGCTTGAGTCGTCTTCACACCATGCTGACAGGCCTCAGGAATGCACCAAGTGAGAAACTGGAACAGATTCTCAG___GACATGTTCCAGAGATCCAACCCAGGCTATTGCTAACAGACTGAAAGAAATGTTTGAAATATATTCTCAGCATTTCCAGCCAGACGAGGATTTCAGTAATTGTGCTAAAG___AAATTGCCAGCAAACATTTTCGTTTTGCGGAGATGCTTTACTATAAAGTATTAGAATCTGTTATTGAGCAGGAACAAAAAAGACTAGGAGACATGGATTTATCT___GGTATTCTGGAACAAGATGCGTTCCACAGATCTCTCTTGGCCTGCTGCCTTGAGGTCGTCACTTTTTCTTATAAGCCTCCTGGGAATTTTCCATTTATTACTGAAATATTTGATGTGCCTCTTTATCATTTTTATAAG___GTGAT)AGAAGTATTCATTAGAGCAGAAGATGGCCTTTGTAGAGAGGTGGTAAAACACCTTAATCAGATTGAAGAACAGATCTTAGATCATTTGGCATGGAAACCAGAGTCTCCACTCTGGGAAAAAATTAGAGACAATGAAAACAGAGTTCCTACATGTGAAGAG|AATGAGTGGTGCAATCTTGGCTCACTGCAACCTTCGCCTCCTGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCAAGTAGCAGGGATTACAGGTGCCCGCCACTACGCCTGGC MPSGGDQSPPPPPPPPAAAASDEEEEDDGEAEDAAPPAESPTPQIQQRFDELCSRLNMDEAARAEAWDSYRSMSESYTLEGNDLHWLACALYVACRKSVPTVSKGTVEGNYVSLTRILKCSEQSLIEFFNKMKKWEDMANLPPHFRERTERLERNFTVSAVIFKKYEPIFQDIFKYPQEEQPRQQRGRKQRRQPCTVSEIFHFCWVLFIYAKGNFPMISDDLVNSYHLLLCALDLVYGNALQCSNRKELVNPNFKGLSEDFHAKDSKPSSDPPCIIEKLCSLHDGLVLEAKGIKEHFWKPYIRKLYEKKLLKGKEENLTGFLEPGNFGESFKAINKAYEEYVLSVGNLDERIFLGEDAEEEIGTLSRCLNAGSGTETAERVQMKNILQQHFDKSKALRISTPLTGVRYIKENSPCVTPVSTATHSLSRLHTMLTGLRNAPSEKLEQILRTCSRDPTQAIANRLKEMFEIYSQHFQPDEDFSNCAKEIASKHFRFAEMLYYKVLESVIEQEQKRLGDMDLSGILEQDAFHRSLLACCLEVVTFSYKPPGNFPFITEIFDVPLYHFYKVIEVFIRAEDGLCREVVKHLNQIEEQILDHLAWKPESPLWEKIRDNENRVPTCEE|newcnlgslqpsppgfkqfs* 18BR002 ENSG00000113282.13 ENSG00000248125.2(255688),ENSG00000249363.1(21564) -/- ./+ chr5:157787350 chr5:145706796 3'UTR intergenic inversion 17 20 0 198 55 medium stop-codon . ENTH_domain(100%)| . . ENSG00000113282.13 . ENST00000523094.5 . upstream upstream duplicates(6),mismatches(2) ^(GCGTCTCGACGTGTCACCGGCGGCGCCGCTGCTGTGGCAAAGGAAGGAGCTGACTGGGGGAGTTCGAGGCGGCGGGCGGCGGTGACCCCGGCCTGGAACTGCCCCGGTACGGAAGTGTTCCGGGGTCCGTGGGGAGCAGGAGAGGGAGGCGGCGGACCGTCCCGCGCGGGGCACGATGTTGAACATGTGGAAG___CACCAATGTTGTTATGAATTATTCAGAGATCGAGTCTAAGGTTCGAGAGGCAACGAACGATGATCCTTGGGGACCTTCTGGGCAACTCATGGGAGAGATTGCCAA___GGCTACATTTATGTATGAACAATTTCCAGAACTTATGAACATGCTTTGGTCACGAATGTTAAAAGACAACAAAAAGAATTGGAGAAGAGTTTATAAG___TCGTTGCTGCTCCTAGCTTACCTCATAAGGAATGGATCAGAGCGTGTTGTTACAAGTGCCAGAGAACACATTTATGATTTACGATCCCTGGAAAATTACCACTTTGTAG___ATGAGCATGGTAAGGATCAAGGTATAAATATTCGACAGAAGGTGAAGGAATTGGTTGAATTTGCCCAGGATGACGACAGGCTTCGTGAAGAGCGAAAGAAAGCAAAGAAGAACAAAGACAAGTATGTTGGGGTTTCCTCAGACAGTGTTGGAGGATTCAGATACA___GTGAAAGATATGATCCTGAGCCCAAATCAAAATGGGATGAGGAGTGGGATAAAAACAAGAGTGCTTTTCCATTCAGTGATAAATTAGGTGAGCTGAGTGATAAAATTGGAAGCACAATTGATGACACCATCAGCAAGTTCCGGAGGAAAGATAGAGAAGACTCTCCAGAAAGATGCAG___CGACAGCGATGAGGAAAAGAAAGCGAGAAGAGGCAGATCTCCCAAAGGTGAATTCAAAGATGAAGAGGAGACTGTGACGACAAAGCATATTCATATCACACAGGCCACAGAGACCACCACAACCAGACACAAGCGCACAGCAAATCCTTCCAAAACCATTGATCTTGGAGCAGCAGCACATTACACAGGGGACAAAGCAAGTCCAGATCAGAATGCTTCAACCCACACACCTCAGTCTTCAGTTAAG___ACTTCAGTGCCTAGCAGCAAGTCATCTGGTGACCTTGTTGATCTGTTTGATGGCACCAGCCAGTCAACAG___GAGGATCAGCTGATTTATTCGGAGGATTTGCTGACTTTGGCTCAGCTGCTGCATCAGGCAGTTTCCCTTCCCAAG___TAACAGCAACAAGTGGGAATGGAGACTTTGGTGACTGGAGTGCCTTCAACCAAGCCCCATCAGGCCCTGTTGCTTCCAGTGGCGAGTTCTTTGGCAGTGCCTCACAGCCAGCGGTAGAACTTGTTAGTGGCTCACAATCAGCTCTAGGCCCACCTCCTGCTGCCTCAAATTCTTCAGACCTGTTTGATCTTATGGGCTCGTCCCAGGCAACCATGACATCTTCCCAGAGTATGAATTTCTCTATGATGAGCACTAACACTGTGGGACTTGGTTTGCCTATGTCAAGATCACAG___CCTTTGCAAAATGTTAGCACAGTGCTGCAGAAGCCTAATCCTCTCTATAATCAGAATACAGATATGGTCCAGAAATCAGTCAGCAAAACCTTGCCCTCTACTTGGTCTGACCCCAGTGTAAACATCAGCCTAGACAACTTACTACCTGGTATGCAGCCTTCCAAACCCCAGCAGCCATCACTGAATACAATGATTCAGCAACAGA___ATATGCAGCAGCCTATGAATGTGATGACTCAAAGTTTTGGAGCTGTGAACCTCAGTTCTCCATCGAACATGCTTCCTGTCCGGCCCCAAACTAATGCTTTGATAGGGGGACCCATGCCTATGAGCATGCCCAATGTGATGACTGGCACCATGGGAATGGCCCCTCTTGGAAATACTCCGATGATGAACCAGAGCATGATGGGCATGAACATGAACATAGGGATGTCCGCTGCTGGGATGGGCTTGACAGGCACAATGGGAATGGGCATGCCCAACATAGCCATGACTTCTGGAACTGTGCAACCCAAGCAAGATGCCTTTGCAAATTTCGCCAATTTTAGCAAATAAGAGATTGTAAAAGAAGCAGATTGAATGAAGAATTTTTAGCTGTGCAGATAGGTGATG)TTGGGATGGAAAATGCTAATCAACTACCCTTTCTTTTATCAAGTAATTAAAATAAATCTACATAAAGAACCAAAAAGGCTGTTTTATAAAAGTGAAATATCCAGTATTTCAGAGGGCCAGGCAAGAGCACTTCAGATGAGGCAGTCAAAATCATTTTTTTCCAGTGAGGATAGACCACAAGTGGGTGGTGAGACCATTGAAAGCCTTTATCAACTGAAGAGTCCATTTAACAGCATAAT|AACCCCAGTTAAGAAATGAGGCTCAGAAAGACTCAGTGTCTTAATGAAGATCATCCACCTGGCAGCTGGCAAAGCCGAGATTCAATCACATGCCTGGACTTCACAGTGACTAAACATCCTTTCCTAGGACCTTGCATGCAAGTTAACACTTGGAAGCCAGTTGGAAATGCAGTGTCTCAGGCCTCATCCTCAGGCCTGCTCATTCTGAATCTGCATTTGACACAATCCTTAAGTCACT . 18BR002 ENSG00000106541.12 ENSG00000106541.12(19924),ENSG00000270593.1(25034) -/- ./- chr7:16797631 chr7:16824923 CDS/splice-site intergenic duplication 11 17 0 2927 46 medium out-of-frame . . . . ENSG00000106541.12 . ENST00000419304.7 . upstream downstream . ^(ACTCAGAAGCTTGGACCGCATCCTAGCCGCCGACTCACACAAGGCAGGTGGGTGAGGAAATCCAG___AGTTGCCATGGAGAAAATTCCAGTGTCAGCATTCTTGCTCCTTGTGGCCCTCTCCTACACTCTGGCCAGAGATACCACAGTCAAACCTGGAGCCAAAAAGGACACAAAGGACTCTCGACCCAAACTGCCCCAGACCCTCTCCAGAG___GTTGGGGTGACCAACTCATCTGGACTCAGACATAT)GAAGAAGCTCTATATAAATCCAAGACAAG___CAACAAACCCTTGATGATTATTCATCACTTGGATGAGTGCCCACACAGTCAAG___CTTTAAAGAAAGTGTTTGCTGAAAATAAAGAAATCCAGAAATTGGCAGAGCAGTTTGTCCTCCTCAATCTGGTT___TATGAAACAACTGACAAACACCTTTCTCCTGATGGCCAGTATGTCCCCAGGATTATGTTTGTTG|CCAGACGTTACATAAGATGTTTTCCAATGACCGTCAATTGGAATCACCAAAGAGGATGTTGCTAGATCAACATGAACCAGCAACCATTATGAAAAATACAACTCTAAACACAAGTCCCCCCAACCAAGCAAGATCACAAGAGATAAGGTGGTTTGATACATCTGTGAAGCAGTGTCTTGTCATCAACCACCATATCTCTGAGTGTCTGAGTAGCTGGTGATGCTACCCTTTTCAGCCTCATTTTTTCTTACATTAACT MEKIPVSAFLLLVALSYTLARDTTVKPGAKKDTKDSRPKLPQTLSRGWGDQLIWTQTYEEALYKSKTSNKPLMIIHHLDECPHSQALKKVFAENKEIQKLAEQFVLLNLVYETTDKHLSPDGQYVPRIMFV|arryircfpmtvnwnhqrgcc* 18BR002 ENSG00000162779.22 ENSG00000057252.13 +/- +/- chr1:179385635 chr1:179350469 intron intron deletion/read-through 5 22 0 33 52 medium . . . . . ENSG00000162779.22 ENSG00000057252.13 . . upstream downstream duplicates(1) CACAATAGAGGTGCCTCCCCACAGGTTCCCTCCCTCTCATTACCTCATGACTGACTTGGTGTCTCCCCGCAATGGCCCTGTATGGCATGCTGCTTCTCCCCAGGGAGCT|CATAGTACCCAGTACTCACAGCATgCCAAGATACTTACTTCCAAAGAACATGAAGAGCACGAAGAGCACGGGATAGAAAAAGCTCAAGCAAACAGCCAAGGCATATTCGTGTACTACAGCAGATACAGCAAAGACAGCTAACATGGCAGCAGATTTGAATCTCTTGGAGAAAAACTAAAGAAAAAGGAAAACACTACAAAGTAATTTTTAAAAATTTAAAGCAAGC . 18BR002 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 5 5 0 14 1287 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream . ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCA)GTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTtACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACC(CGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 18BR002 ENSG00000113504.21 ENSG00000131503.21 -/- +/- chr5:1081577 chr5:140537661 CDS/splice-site intron duplication/5'-5' 8 0 0 89 62 medium out-of-frame . Amino_acid_permease(100%)| . . ENSG00000113504.21 ENSG00000131503.21 ENST00000264930.10 . upstream downstream . ^(AGTCCCGTGGCGTCGGCGGGAGCGGCGCAGCGCGGGCCGGGCCGGGACGGGGACTGTCGGCTGCAGGCGGCCATGCCCACCAACTTCACCGTGGTGCCCGTGGAGGCTCACGCCGACGGCGGCGGGGACGAGACTGCCGAGCGGACGGAGGCTCCGGGCACCCCCGAGGGCCCCGAGCCCGAGCGCCCCAGCCCGG___GAGATGGAAATCCAAGAGAAAACAGCCCATTCCTCAACAATGTCGAGGTGGAACAAGAGAGCTTCTTTGAAGGGAAGAACATGGCACTTTTCGAG___GAGGAGATGGACAGTAACCCCATGGTGTCCTCGCTGCTCAACAAGCTGGCCAACTACACCAACCTGAGCCAGGGCGTGGTGGAGCACGAGGAGGACGAGGAGAGCCGGCGGCGGGAGGCCAAG___GCTCCGCGCATGGGCACCTTCATCGGCGTCTACCTGCCGTGCCTGCAGAACATCCTGGGCGTCATCCTCTTCCTGCGCCTGACGTGGATCGTGGGGGTGGCTGGTGTCCTGGAGTCCTTCCTCATCGTGGCCATGTGCTGCACATGT___ACAATGCTGACCGCCATTTCCATGAGTGCGATCGCTACCAACGGTGTGGTCCCAG___CTGGCGGGTCCTACTACATGATATCGCGCTCGCTGGGACCCGAGTTTGGAGGCGCTGTCGGCCTCTGCTTCTACCTGGGCACGACGTTTGCAGGGGCCATGTATATTTTGGGGACCATCGAGATTTTTCTG___ACGTACATCTCCCCGGGTGCGGCCATCTTCCAGGCGGAGGCTGCAGGTGGCGAGGCGGCCGCCATGCTGCACAACATGCGTGTGTACGGCACGTGCACGCTCGTGCTCATGGCCCTGGTGGTCTTCGTGGGCGTCAAGTATGTCAACAAGCTGGCGCTGGTCTTCCTGGCCTGCGTCGTGCTGTCCATCCTGGCCATCTATGCCGGCGTCATCAAGTCTGCCTTCGACCCCCCGGACATCCC___GGTCTGCCTCCTGGGGAACCGCACGCTGTCACGGCGCAGCTTCGATGCCTGCGTCAAGGCCTACGGCATCCACAACAACTCAGCCACCTCCGCGCTCTGGGGCCTCTTCTGCAACGGCTCCCAGCCCAGCGCCGCCTGTGACGAGTACTTCAT)CCAGAACAACGTCACCGAAATCCAGGGCATCCCGGGCGCGGCCAGTGGTGTCTTCCTGG___AGAACCTGTGGAGTACGTACGCGCACGCGGGGGCGTTTGTGGAGAAGAAAGGTGTGCCCTCGGTGCCCGTGGCAGAGGAGAGCCGTGCCAGCGCACTGCCCTACGTGCTCACCGACATCGCGGCCTCCTTCACCCTGCTGGTTGGCATCTACTTCCCcTCCGTGACCG|GAACTAAGTTTTAATGGCAAACCTACAGCTTACTTAAGATATCCCTCCAGAGAGAGAGCAAGGCAATTGTACCTGACACAGCATTGACACCAAATGACC MPTNFTVVPVEAHADGGGDETAERTEAPGTPEGPEPERPSPGDGNPRENSPFLNNVEVEQESFFEGKNMALFEEEMDSNPMVSSLLNKLANYTNLSQGVVEHEEDEESRRREAKAPRMGTFIGVYLPCLQNILGVILFLRLTWIVGVAGVLESFLIVAMCCTCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEIFLTYISPGAAIFQAEAAGGEAAAMLHNMRVYGTCTLVLMALVVFVGVKYVNKLALVFLACVVLSILAIYAGVIKSAFDPPDIPVCLLGNRTLSRRSFDACVKAYGIHNNSATSALWGLFCNGSQPSAACDEYFIQNNVTEIQGIPGAASGVFLENLWSTYAHAGAFVEKKGVPSVPVAEESRASALPYVLTDIAASFTLLVGIYFPSVT|gtkf* 18BR002 ENSG00000113504.21 ENSG00000254996.5 -/- +/- chr5:1081577 chr5:140537661 CDS/splice-site intron duplication/5'-5' 8 0 0 89 62 medium out-of-frame . Amino_acid_permease(100%)| . . ENSG00000113504.21 ENSG00000254996.5 ENST00000264930.10 . upstream downstream . ^(AGTCCCGTGGCGTCGGCGGGAGCGGCGCAGCGCGGGCCGGGCCGGGACGGGGACTGTCGGCTGCAGGCGGCCATGCCCACCAACTTCACCGTGGTGCCCGTGGAGGCTCACGCCGACGGCGGCGGGGACGAGACTGCCGAGCGGACGGAGGCTCCGGGCACCCCCGAGGGCCCCGAGCCCGAGCGCCCCAGCCCGG___GAGATGGAAATCCAAGAGAAAACAGCCCATTCCTCAACAATGTCGAGGTGGAACAAGAGAGCTTCTTTGAAGGGAAGAACATGGCACTTTTCGAG___GAGGAGATGGACAGTAACCCCATGGTGTCCTCGCTGCTCAACAAGCTGGCCAACTACACCAACCTGAGCCAGGGCGTGGTGGAGCACGAGGAGGACGAGGAGAGCCGGCGGCGGGAGGCCAAG___GCTCCGCGCATGGGCACCTTCATCGGCGTCTACCTGCCGTGCCTGCAGAACATCCTGGGCGTCATCCTCTTCCTGCGCCTGACGTGGATCGTGGGGGTGGCTGGTGTCCTGGAGTCCTTCCTCATCGTGGCCATGTGCTGCACATGT___ACAATGCTGACCGCCATTTCCATGAGTGCGATCGCTACCAACGGTGTGGTCCCAG___CTGGCGGGTCCTACTACATGATATCGCGCTCGCTGGGACCCGAGTTTGGAGGCGCTGTCGGCCTCTGCTTCTACCTGGGCACGACGTTTGCAGGGGCCATGTATATTTTGGGGACCATCGAGATTTTTCTG___ACGTACATCTCCCCGGGTGCGGCCATCTTCCAGGCGGAGGCTGCAGGTGGCGAGGCGGCCGCCATGCTGCACAACATGCGTGTGTACGGCACGTGCACGCTCGTGCTCATGGCCCTGGTGGTCTTCGTGGGCGTCAAGTATGTCAACAAGCTGGCGCTGGTCTTCCTGGCCTGCGTCGTGCTGTCCATCCTGGCCATCTATGCCGGCGTCATCAAGTCTGCCTTCGACCCCCCGGACATCCC___GGTCTGCCTCCTGGGGAACCGCACGCTGTCACGGCGCAGCTTCGATGCCTGCGTCAAGGCCTACGGCATCCACAACAACTCAGCCACCTCCGCGCTCTGGGGCCTCTTCTGCAACGGCTCCCAGCCCAGCGCCGCCTGTGACGAGTACTTCAT)CCAGAACAACGTCACCGAAATCCAGGGCATCCCGGGCGCGGCCAGTGGTGTCTTCCTGG___AGAACCTGTGGAGTACGTACGCGCACGCGGGGGCGTTTGTGGAGAAGAAAGGTGTGCCCTCGGTGCCCGTGGCAGAGGAGAGCCGTGCCAGCGCACTGCCCTACGTGCTCACCGACATCGCGGCCTCCTTCACCCTGCTGGTTGGCATCTACTTCCCcTCCGTGACCG|GAACTAAGTTTTAATGGCAAACCTACAGCTTACTTAAGATATCCCTCCAGAGAGAGAGCAAGGCAATTGTACCTGACACAGCATTGACACCAAATGACC MPTNFTVVPVEAHADGGGDETAERTEAPGTPEGPEPERPSPGDGNPRENSPFLNNVEVEQESFFEGKNMALFEEEMDSNPMVSSLLNKLANYTNLSQGVVEHEEDEESRRREAKAPRMGTFIGVYLPCLQNILGVILFLRLTWIVGVAGVLESFLIVAMCCTCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEIFLTYISPGAAIFQAEAAGGEAAAMLHNMRVYGTCTLVLMALVVFVGVKYVNKLALVFLACVVLSILAIYAGVIKSAFDPPDIPVCLLGNRTLSRRSFDACVKAYGIHNNSATSALWGLFCNGSQPSAACDEYFIQNNVTEIQGIPGAASGVFLENLWSTYAHAGAFVEKKGVPSVPVAEESRASALPYVLTDIAASFTLLVGIYFPSVT|gtkf* 18BR002 ENSG00000132549.18 ENSG00000253948.2 +/+ -/+ chr8:99054341 chr8:99006855 intron intron duplication/5'-5' 5 3 0 11 5 medium out-of-frame . N-terminal_region_of_Chorein_or_VPS13(100%)| . . ENSG00000132549.18 ENSG00000253948.2 ENST00000357162.6 . downstream upstream . ^(GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGT___CTTCCGACTTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAG___)GAACTGAAATTACCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAG___GAATTTCCATACTGTTTTCTACAGTGGCTGTACCATTGTATTCTCACCACCAGTGTACAAAGGTTTCAGTTTTGCCACATCTTCACCGACACTTATTTTC|CGTTTTATTTTCCATGTCTTCTTCTTCAGAGGT...___GTTGAACATCCTAATCCCCAAACCAAAAATGCTTCAAAATCTGAACGTTTTTGAGTGTATAATATGCATGACCCTCAAGGAAATGTTCTTTGGAGGA-TTTAGATTTTTGGATTAGGGATGTTAAAGTGGTAAGTATAATGCAAATATTCCAAAATCTGAAAATAATTGAAATCTGAAACAGTTCTGGT MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECILKLKDGIQefpycflqwlyhcilttsvqrfqfchiftdtyf|pfyfpclllqr 18BR002 ENSG00000158470.5 ENSG00000203266.3(9374),ENSG00000280220.1(29703) -/- ./- chr20:49713576 chr20:57132119 CDS/splice-site intergenic duplication 0 5 0 25 14 medium out-of-frame . . . . ENSG00000158470.5 . ENST00000371711.4 . upstream downstream . ^(ATGTGGCCCGGCCCGCGACGGCCGGCGGCTGGGAGCGGCGAGGCGGCGGCGGCGGCGAGTGGCGGCCCGCGAGGCCCGGGAGGCGGTGGCCGAGGCCCAGGCGGTGGCGGCGGCGGCCCAGGAGGCGGCGGACGGGGAGCTGCGGGAGCAGGCCCGGCCTGGCTCTCTAGCGGCCGCCTGGCTGCAGCATGCGCGCCCGCCGGGGGCTGCTGCGGCTGCCGCG)CCGCTCGCTGCTCGCCGCGCTCTTCTTCTTTTCTCTCTCGTCCTCGCTGCTGTACTTCGTCTATGTGGCGCCCGGCATAG|GTTGGGGTGGAGAAGCAATATCCCTAAGGGAAAAATAAAAGTCTCCAAGCTAGGACTTTCAGCCTGGGGCCTGACATTGCACAGAAAATGGCCAC MRARRGLLRLPRRSLLAALFFFSLSSSLLYFVYVAPGI|gwggeaislrek* 18BR002 ENSG00000186187.12 ENSG00000186187.12 +/+ +/+ chr16:75096325 chr16:75093572 intron CDS/splice-site duplication 2 3 0 28 121 medium . . . . . ENSG00000186187.12 ENSG00000186187.12 . ENST00000335325.9 downstream upstream . GCAAAGAGAGGCCAGTTGTCTCCAGTCCTTCCAGTGGACTTTGTCTCAACGTGGTGAAGTGCTTTGTTCAGAAACAATGGTCCGGCCCTCTGTGGACCCTGTTCATGTGGTATGGACTCCTCATGTTCAGTCTTTGTCTTTTCTGAAGACCCTAAACCTTCCAG|GTTTCAAGTGCCCCATTTGCTCCAAGTCTGTGGCTTCTGACGAGATGGAAATGCACTTTATAATGTGTTTGAGCAAACCTCGCCTCTCCTACAACG___ATGATGTGCTGACTAAAGACGCG(GGTGAGTGTGTGATCTGCCTGGAGGAGCTGCTGCAGGGGGACACGATAGCCAGGCTGCCCTGCCTGTGCATCTATCACAAAAG___CTGCATAGACTCGTGGTTTGAAGTGAACAGATCTTGTCCGGAACACCCTGCGGACTGACCTGCGGGCTTGCTTGCTGACTCCTCTCAAAG___GGACAGAGCGCCCCTGCTCCAGGGAGGAGGCTCACCGGACCCTGGGGCAGAGCTGAGCTTGGGACACCAGCGGGAACAGGGCACCCCTTCTGCACTGACTTCCAGATCATGGTTCTCCCTTCCTCCCTGAGGACACCAAATTGGATGAGAGCAAGTTTGAGAGAAGAATGAATCAACTGCTATCCTTCCCCTCACCCCTCAGCCCAGGAGGGAAAGGGCATTTTCTTTTTCATCTTTGAAAGGCATTGTGGGTCTGTCTTTAAAGTGTTTACAAAAAAAAATTATATAAAAAAAAAGTCTAGTGTCGACTGGTGTTTTCCCTCGTGATGTTTACAGCTTGCTGTTTGCTGCCCAGCCATAACCCACTCAGTGACAGACGAACACAGCTAAGGCCTCGCTGCCAGCCTTCTGACGGCGGGCGAGCACACGGTCTCTTCCCCTGCCCCAACTGGCCCTCTCCACCACCAACTTCTCTACTTTGGGTTTGTTTGGTTTTTTCCCTCTATTTTTCTGGCTGGTTTTTTGCTCTTTTCTCCCCTTGAGACCCTAATATCTTGACTTCATTGCCAAAAAACAACCCATTGAGAACTTTCTTCCTACTGATCCCATCTCTTTTCCCTTCTTTCCTCCTGGTTCCGGTCAGTTCAGAGGATTTAACAATCACAAGTGTCCTGCAAAAATGCCTGAACATTATTCTTAGGCCCTCGTGGATTTTTTTTTTCAGAAAACTTAAACAAAAAAAGACTTACTAAGAAATATGTACAGCTACCCCTGTTTTCAGGCACTATGTTTGAGAACATTTTAGCCATTGATGTTCACACGTGGCATCAGCCCATGCAAGATAGGTTTCTGTATTTATATATTAAAATACAAAAAAAAACTTATAAAATGTTTAAAAAAATGTTCAAAGCTTGGGAGAAAAGCTTTCTTCATTAGTCAAGGTGTTTTGATATGGTATTAAAATGTCTAATAAAAGATGGCACTGCGTGATTTTATTTTAATGAAGTGTTATACAATCAAGAAATGGGGGCAAGGGCCTGCCCCCCACTCCCTCACCTACCTCCTTAGCATTCCTTCAGGCTGCTACTCGGGGCTCCAGGTGTGTGAATTGGTCCTCAGATAGTCAGGCCTGGGTGGAGGGAGTGGCAAGTCAGGCGTGCCTCCTACAAGCTTCCTAACCTCTTAAGCATCATGGAACCAGTCAGCCCTCTGTGGAGTCATTGTGCTGGACCTCTGAAAAGATCTGCAGGGGCCAAGATGTTGCAGCCACCGGAGGCTGCAAGGATGTGGGTTCTTCCAGGTGTGGGCCCAGCCCCCCTCCTTCCAGCCTTTGCTCCCCATCCCACGTTCCACTCGCCCTGCCTGTTGTTCAGTTTGCGTCTCAGTGCTGACTCACGGGCATGCTTCATTGAGGCCCAGGAAGAGGCCCTGGTTTGGGGCTGTGCCAGCTCAGAGCCCTTGAACCAGAACCAACTGCTCAGGCTCACAAAAGTTGGCAAAATGCGGGCTGGGCAGGCAGCTCGGGGCAGGGAGCAGCAGTGCAGGCCTGGCCTGTGTCCCCGTGCCCAGCGGGCTCCCGGAGCAGCATTCCAGAGCCTCCTGCAGAGCCAGCGAAGGAAAGCTCTAGAGGGAGACGACTCCACCGCCTCTCTGCTCTGACCCTTCTCAGGCCCGCCTGATGTGCTGGACCATCCCCCTGCTGCCACGGCCCCTGGCTCCGCAGTCACCCTCCATCAGATGCTTCCAGAAGCACCTACTCTGTGCAAGGGCATTCACAACAGGCCAGTGGGCAAACGTGAGCCAGGGCCAGCGGAGAAACACTAAAGAAGACTCGGTGGTTCAGAGCCTGGGTCTCAGCGCGGGACCCGTCTGGGGTGAAGACCTTGGGGCTGTTGTGAGTCGGTGGCAGGAACGTGGGCTCTAGACTGTGCATTCAGGCTCTCCTACTTGGCAGAATGATCTTGGGGAAACGACTTCATCTGAACTTCAGATATTTCACATGTGAAGCGGGGACAAAACCATGCAGCTCAGAGGTCCCTGTGGGGGCTGGGGGAGCTGCCCTGCAGGTCTTGGCACATGCACAGCAGGCTCCCCATAGCTTTGTCACCACAAAGGGCACTGTTCTATTCACAGCACCTCCTGCTTCTGCCTGGCAACTGTGTCTCCCTGTGCTATATTTAATTCCACCAGCAAAGCTGGCGAGGCAGGGCCCAGCCCTGAAGGAGATCTCCTTGCCTGACCCCTGGACCTGGAAATGGAGGCTTCATGTGCCCGCCTTGGCGGCTTAAGCCTGCTGCTTTGGCAGTGCCATGGGTGAGCCGAGCAGCTGTGAGGTGGGTGGGGCAGGGCTGTAGCCCACGCCGGGTGCTATTCCAGGCTCTAGGGGCTGGTGCTCATCCCCACCCCCAGCGACTTCCGTCCTACCTGGCATGCTGCAGCCCTCTGCCGGCTGTGGTGTCCTCTGAATTTGGACCCAGGTTGCCTGCTCTTGTTGTGGGGGTGGGATTGGGGCTGTCTGTGTTTCCCAGGTGGAGCTCATGTTTGTGATCCTCTATCTGGACAGCTCTCCAGAATCCTGTGTTGCCCCTGTTCTGCCTTTCTGGGATGGGAGAGAAGGTGAGGGAGCCGGCGAGCAGGTTCTACCCTCTCTGCTAAGGGCCTAGCACACTTTGATGAGGTTCCTGGACGTGAGACCCTCACAAAGACCAACCATTCCTCTAATAGCCATTTAACGGTACTGCAGTTCATGGGAAAATGTCCTCATTCTTAGGAGATAGATGCTGGATTATATAGGTGAATGCCTTCAAGAAATGTGTAATTTAATTCCAAATAGTTCCCCCCAAAATACACAAAGCAAATAAGGCCAAAATGTTCATTGTTGAATCTGCAGTGGCTGGTATTTCAGTGAACAGTGTACTTGTTCTTTCAACTTTTCTGTATGTTTGGAATTTTTCTTAATAAAAGATTGTGGGAAATGGTCATTTGCTGAGCGCCTCCTAGTTGCCAGGCACTGGAGGGCGCATCAAAGAAGAGTCCTACCCAGGAGGGAGAGCGCAGCTGCTGCAGGATTCTCGCCTGGAAGAGTGGGTGGCTGGCTGGCTGGCTGGAAGGGGAGGGGCGAGAGGGCTGTCTCGGTGATGAGCACACGCGTGCTGGGGTGGTTTGGGGAGAGGGCTGAGATTTGTCACCAGTGAGCCCTTGGCACGGTCTCTGCTCCCCACCAGGGCAGCACGGGACAGAAACGTCACGGAGGAGTAGCCTC)$ . 18BR002 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51878389 chr19:51855967 CDS/splice-site intergenic deletion/read-through 1 4 0 81 48 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream duplicates(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGC)AGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAaACCATCAGCCTTCAACCAC MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSI|dlhyrwktaasepq* 18BR002 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 3 1 0 43 5 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAA)CTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTGGCCACATTGAGGAATCGTGTAAAATGAATGTATGTGCTCGTAAGTGAAATATATGCAGTGTTCCAACTCAATATGTTGGATCCTAATAGACCTGG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnpsghieesckmnvcark* 18BR002 ENSG00000115207.13 ENSG00000163795.14 -/- -/- chr2:27335598 chr2:27380248 CDS/splice-site CDS/splice-site duplication 1 3 0 37 46 medium in-frame . . . . ENSG00000115207.13 ENSG00000163795.14 ENST00000264720.7 ENST00000323703.11 upstream downstream duplicates(1),mismatches(1) ^(CCCTTTTTGACACTGCAACTCCCATGAGGCCCTGCAGCGTCCCTGGCGCCGCTGAAGACGCCCTGGAACTCGGCTGGCTTCGGAGGGCTCGGTGACTCTGGCCGCGCTGCATTATGGAATACAGAGTCTAAGAGAAAACTAGCCCGGCACCGACTCCGGACCAAGCACACGTGTTTACCTTGTGCACTGGGGTGGGGGCGTCAGTGAAGAGCAGCTAACAAGATTTCGTCATAAGACCGCGACCAGACAGGCGGCGCCATCTTCGAACTTAGACTTCCGGAAGGACTTTGGCGAGG___GGGCAGCCATTTTGGGGGGTGCTGATGGATACCTGCGGGGTCGGCTATGTTGCCCTGGGGGAGGCCGGCCCCGTGGGGAACATGACTGTGGTAGACTCTCCTGGACAAGAGGTGCTAAATCAGCTTGATGTCAAGACCTCTTCAGAAATGACCAGTGCAGAGGCTTCCGTAGAGATGTCATTACCTACCCCTTTGCCTGGATTTGAGGATTCTCCTGATCAGAGGAGGCTCCCTCCAGAGCAGGAAAGCCTCTCCAGACTGGAACAGCCAG___ATCTTTCTTCAGAGATGTCAAAGGTCTCAAAGCCTAGGGCCTCAAAGCCTGGCCGGAAGAGAGGTGGTAGGACACGAAAAGGCCCCAAAAGGCCCCAACAGCCTAATCCTCCATCAGCCCCACTGGTTCCTGGTCTCTTAGATCAATCCAACCCTCTGTCCACCCCCATGCCTAAGAAACGAGGTCGAAAGTCCAAGGCAGAGCTGCTGCTGCTGAAGTTGTCAAAAGACCTAGATCGGCCAGAATCTCAATCTCCAAAGAGGCCCCCTGAGGACTTTGAGACCCCTTCTGGGGAACGACCCCGCCGAAGGGCTGCCCAAGT___GGCACTTCTGTATCTTCAGGAACTGGCTGAAGAGCTCTCAACAGCCCTGCCTGCCCCTGTGTCCTGTCCTGAGGGCCCCAAGGTGAGCAGCCCCACCAAACCGAAGAAGATCCGGCAGCCAGCAGCCTGTCCAGGTGGAGAAGAGGTGGATGGTGCTCCACGGGATGAAGACTTTTTTCTCCAGGTTGAGGCTGAAGATGTGGAAGAAAGTGAGGGCCCAAGTGAGAGCTCATCTGAACCTGAGCCTGTAGTGCCCCGAAGCACCCCACGAGGATCTACTTCAGGG___AAACAGAAACCACACTGCCGAGGAATGGCTCCCAATGGCTTACCAAATCATATCATGGCTCCTGTTTGGAAGTGCCTCCATCTCACCAAGGACTT___CCGAGAGCAGAAACATTCATACTGGGAGTTTGCTGAGTGGATTCCTTTAGCCTGGAAGTGGCACTTGTTATCTGAGCT___TGAGGCCGCTCCCTACCTGCCCCAGGAGGAGAAGTCTCCATTGTTTTCTGTACAACGTGAAGGGCTACCTGAAGATGGCACCCTCTACCGAATAAACAG___ATTTAGCTCGATCACAGCACATCCAGAGCGCTGGGATGTGTCCTTCTTCACGGGGGGACCGCTCTGGGCTCTGGACTGGTGCCCAGTGCCAGAGGGGGCAGGAGCCTCGCAATATGTGGCTCTTTTCTCCAGCCCTGACATGAATGAGACACACCCACTGAGCCAGCTTCATTCGGGTCCTGGGCTGCTCCAGCTCTGGGGCCTTGGGACCTTGCAGCAAGAAAGCTG___TCCTGGCA)ACAGGGCCCACTTTGTCTATGGGATTGCTTGTGACAACGGCTGCATCTGGGACCTCAAGTTCTGCCCCAGTGGAGCATGGGAACTTCCAGGCACCCCTCGGAAG___GCTCCTCTCCTGCCCCGGTTGGGTCTCTTGGCTCTGGCCTGCTCAGACGGGAAAGTACTGCTATTCAGTCTACCCCATCCGGAGGCCCTGCTGGCTCAGCAACCCCCAG|TGGATACTGAAGACTCCCTCGACGAAGGACCCGGGGCCCTGGTATTGGAGAGTGATTTGCTACTAGGCCAGGATCTGGAGTTTGAGGAGGAAGAGGAAGAGGAGGAAGGCGACGGCAACAGTGACCAGCTCATGGGCTTCGAG(AGAGACTCGGAAG___GAGACTCTCTGGGGGCCAGGCCTGGGCTTCCCTATGGGCTGAGCGACGATGAGTCTGGGGGCGGCCGGGCACTAAGTGCGGAGAGTGAAGTTGAGGAGCCAGCCAGGGGTCCAGGGGAGGCCAGGGGTGAGAGGCCAGGCCCAGCCTGCCAGCTGTGTGGGGGGCCGACAGGTGAGGGGCCGTGTTGTGGGGCAGGAGGGCCGGGTGGGGGGCCCCTGCTGCCCCCACGGCTACTGTACTCATGCCGCCTCTGCACCTTCGTGTCCCACTACTCGAGCCACCTGAAGCGGCACATGCAGACACACAGCGGAGAGAAGCCGTTCCGCTGTGGCCGCTGCCCCTACGCCTCAGCCCAGCTCGTCAACCTGACACGACATACCCGCACCCACACTGGCGAGAAGCCCTACCGCTGTCCCCACTGCCCCTTTGCCTGCAGCAGCCTGGGCAACCTGAGGCGGCATCAGCGTACCCACGCAGGGCCCCCCACTCCTCCCTGCCCGACCTGTGGCTTCCGCTGCTGTACTCCACGACCAGCCCGGCCTCCCAGTCCCACAGAGCAGGAGGGGGCGGTGCCCCGGCGACCTGAAG___ATGCTCTGCTCCTTCCAGATTTGAGCCTCCATGTGCCACCAGGTGGTGCCAGTTTCCTGCCAGACTGTGGGCAGCTGCGGGGTGAAGGGGAGGGCCTCTGCGGGACTGGATCAGAACCACTGCCAGAGCTGCTATTCCCTTGGACCTGCCGGGGCTGTGGACAAGAGCTGGAGGAGGGTGAGGGTAGTCGGCTGGGAGCTGCCATGTGTGGGCGCTGCATGCGAGGAGAGGCTGGAGGGGGTGCCAGTGGGGGGCCCCAGGGCCCCAGTGACAAAGGCTTTGCCTGTAGCCTCTGCCCCTTTGCCACTCACTATCCCAACCACCTGGCCCGGCACATGAAGACACACAGTGGTGAGAAGCCCTTCCGCTGCGCCCGCTGTCCTTATGCCTCTGCTCATCTGGATAACCTGAAACGGCACCAGCGCGTCCATACAGGAGAGAAGCCCTACAAGTGCCCCCTCTGCCCTTATGCCTGTGGCAATCTGGCCAACCTCAAGCGTCATGGTCGCATCCACTCTGGTGACAAACCTTTTCGGTGTAGCCTTTGCAACTACAGCTGCAACCAGAGCATGAACCTCAAACGTCACATGCTGCGGCACACAGGCGAGAAGCCCTTCCGCTGTGCCACCTGCGCCTATACCACGGGCCACTGGGACAACTACAAGCGCCACCAGAAGGTGCATGGCCACGGTGGGGCAGGAGGGCCTGGTCTCTCTGCCTCTGAGGGCTGGGCCCCACCTCATAGCCCACCCTCTGTTTTGAGCTCTCGGGGCCCACCAGCCCTGGGGACTGCTGGCAGCCGGGCTGTCCACACAGACTCATCCTGAACTAGGTCCTTCTTCCCCATGTTTTATACAGACGGACCAGAAGCCACCTTTTTCTCCCCCGCTGGCCAGGGGCTCCACACAGACTAACGTAGGCACTATAAGGACCAGCCCAACCCCATGGGCGGGGGGGCCCATATGGACCAGGGGACCTTGCCTTGACTGAGGCACTTCACGAGCTCAGTGAGAAGGGCCCTGTATTCACCTCCACTGCCCCCAGGGGCTGTGGACAAACCGGCTGGGGGACTGCCCAGCCTCCCACCTGTTTATTTAACTTATTTCAGTGCTTTATAATAAAGGAAACACTAACAAA)$ MDTCGVGYVALGEAGPVGNMTVVDSPGQEVLNQLDVKTSSEMTSAEASVEMSLPTPLPGFEDSPDQRRLPPEQESLSRLEQPDLSSEMSKVSKPRASKPGRKRGGRTRKGPKRPQQPNPPSAPLVPGLLDQSNPLSTPMPKKRGRKSKAELLLLKLSKDLDRPESQSPKRPPEDFETPSGERPRRRAAQVALLYLQELAEELSTALPAPVSCPEGPKVSSPTKPKKIRQPAACPGGEEVDGAPRDEDFFLQVEAEDVEESEGPSESSSEPEPVVPRSTPRGSTSGKQKPHCRGMAPNGLPNHIMAPVWKCLHLTKDFREQKHSYWEFAEWIPLAWKWHLLSELEAAPYLPQEEKSPLFSVQREGLPEDGTLYRINRFSSITAHPERWDVSFFTGGPLWALDWCPVPEGAGASQYVALFSSPDMNETHPLSQLHSGPGLLQLWGLGTLQQESCPGNRAHFVYGIACDNGCIWDLKFCPSGAWELPGTPRKAPLLPRLGLLALACSDGKVLLFSLPHPEALLAQQPP|vDTEDSLDEGPGALVLESDLLLGQDLEFEEEEEEEEGDGNSDQLMGFERDSEGDSLGARPGLPYGLSDDESGGGRALSAESEVEEPARGPGEARGERPGPACQLCGGPTGEGPCCGAGGPGGGPLLPPRLLYSCRLCTFVSHYSSHLKRHMQTHSGEKPFRCGRCPYASAQLVNLTRHTRTHTGEKPYRCPHCPFACSSLGNLRRHQRTHAGPPTPPCPTCGFRCCTPRPARPPSPTEQEGAVPRRPEDALLLPDLSLHVPPGGASFLPDCGQLRGEGEGLCGTGSEPLPELLFPWTCRGCGQELEEGEGSRLGAAMCGRCMRGEAGGGASGGPQGPSDKGFACSLCPFATHYPNHLARHMKTHSGEKPFRCARCPYASAHLDNLKRHQRVHTGEKPYKCPLCPYACGNLANLKRHGRIHSGDKPFRCSLCNYSCNQSMNLKRHMLRHTGEKPFRCATCAYTTGHWDNYKRHQKVHGHGGAGGPGLSASEGWAPPHSPPSVLSSRGPPALGTAGSRAVHTDSS* 18BR002 ENSG00000220785.7 ENSG00000130045.16(20828),ENSG00000228189.5(30576) -/- ./- chr1:32231744 chr9:88596617 exon intergenic translocation 2 1 0 33 5 medium . . . . . ENSG00000220785.7 . ENST00000441044.5 . upstream downstream . ^(TGCTGGGCCCCGGGTCTCTCACTGGCAGAATGGAGTTCTCGGAGCTGATCCATACGGGCTGAGCCCAAGCAGAGTTTCTACGGGGCCCGGAGGCGCCCCCGCTTCGCGGCACGGTGTGAGTCACCGTCCACCACCTGCTCCTGTCGCCAGGGCCCGCGTCCTCTCCGGACCTGTGGCTGCTGCTGTTGCGTAGCGTCGACTCCTTCGAGAAGCAGTGAGACGTGGCGGGGTGGGGGAGGGTCCCCGGGGTTGGGGAGCGCGCGGCTTGGCGGAGTAGGGGGCACGGCCAGCGCAGTCAGAGCTGGCGCCCTCCTGCGTAAGCCCAATCCGGGAAACTCGTTGCCCCTCTCCTGGGAAAGGAACGTCCCTCCCCAGGGTTGCGAGTGACTCGGGCACCATCACCCTGTGCTGTAAAGACCTGCGAGTGCTGCAGCTGGAAATAGAGGGCGCGGAAGCGACGCTGGGCATCGCCCGCTCCATCGAG___ACCAACGCGTGGCGGCTGAGCGAGGTGAACGAGGACTTCAGCTTGTGCCCCAGATACCCCCGTGCGGTGATCGTGCCATACTTGGTGGACGATGATGCCCTGGCGCGCAGCGCCCGCTTCCGTCAGGGAGGTCGCTTCCCGGTGCTCAGCTACCACCCGGCTCCCAGCGGCAGAGGGAGCGCGCCCTCCCCACGCTCCGCCCCTGGGTGGCTGCGTCCTTTCTGGGCCTTTTCTTTTTGGCCCGGTCAATTCGCGGCGTAGCCGCTGCCCCAACTCCTGCCCCATTCTGGTCCCGCCCCTCTCCCGCCTTTTCGCTGGGAAGGGTATCACCTTTCTCTGGCCCCGCCCCTGACGGTTCCGGGCCCCGCGAAGCTTAGTCCCTTCTTTGTCAAGCCAGGACCCGCCCACGGTCTATTCATAGGGTCCCAAACCACTTTGGCCACAACACCCCCAGACTGGTCCGAAGCCTCGTGAGTTCGCCCTGGTCGTTGCACTCCAGCCTGTCGCTGTGCAGACCTGGCTTAGAGGACCCCTAAGGCTGAGGGGTCACTTCCAGAACTGAGTCCGGTCCGCAGGTTCTGCTACGCTCCAGCCAGCCCCTAACTGGTCCCCAGAAGCGGCGCTGCTACAGGGACCAGGAGCTGCTGCGAACTGCGCTGGCGGGGGCTCGTCCTTGGGCGCGGGGCTTCATCATGGACACGCTCTCGGCCCAGGCCGCGAAACAAGCCCGCGTGACTGGCGGAGGCACAGAGACCAAGGCCGCTTAACCTGGCTGGTTGCACTGGTCCCTGGAGAG___CACTGAGCACAGGGGCTGCCACAGTGGCCGGCTCAGACATGGCAGAGATCAGCAGAGAATGGGCAATCAGGCTCCCCTGAGATGAGCAGCAGCGCAGAGGAGGTGCCCCTCTCTTACTACACCAACTTCAG___AGGGCGTCCCCTGCAGGAGAGCTTCATGCGCCTGGTGGAGGCCTGTGGGGACTCGGAGCAAAGCATGGACAACTGGCTGAGTCGGCTGGACGGCTGCCGCTGACTGTAACATGTAAAGCAGGCACTGAGCACCACCTGCCTGGCAGTCCAGGGCATGGAGAG___GCACAGACAGCACCCTGCTTGTGACTTCACTGGCCCAACTCATCCTGGACCCCTTGAGCAAGACCATGGCTGGATTCCAGGAACTGGTGGAGTGGAAGTGGATCCAGGAAA___GCCAGCCACCCCTTCCAGCTGCGCTGTGCCCATTCAGCCTTCTCCCATGCCCACCCCAAGCATGAGGCACCCACCTTTCTCCTCTTCCTGGACTGCGTGTGGCAGCTGGGCTGCCGGTTCCCACTGTCATTGGAGTTTGGGGAAGGGCTACTGTTGGCGCTGTTTGGGCACGCCTATGCCTCCTCTTTTGGCACCTTCCTCTGCAACAGCGAAAAGGAGAG___ATGAAGTCTCGCTCTGTCACCTGTCGCCTGGTCTGGAGCGCAGTGGCACGATCTGGGCTCACTGCAACCTTTGCCTCCCTGGTTCAAGCTATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAATGTGCCACCACGTCCGGCTAATTTTTATACTTTTAGTATAGATGGAGTTTCACCATATTGGCCAGTCTGATCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCTAAAGTGCTGGGATTACAAGC___ATGCCGTGTGAAGGGAGGACTCAGATGCACTCCCTGTGGTCTGGGCTCAACCAGCCAAAAGAGCAACAAAGACTCCAGAACCCACTCTACCTCCTCAATCCCTTGGCCATCTGTGGAGCCCCAGAGCCTGCG)GCTGTGGCAAG___GCCTGTTTCTGCGCTGGACCTGCTCACCTGAGCCTGCAGAAGCTGCATGGGGGAAGAGTGTGGCAAATAGTGACAGGAAGGGAGAAGACAGAAGCCTCTCAGCCAACTGCTTCAGCCGAGCCCCTATTCTAAGCACTGGCTCCTTGGATAGCAGCTGAGATGTTCCTGAAACCTCTGCAGGCCCCTTAGGACCTTTACACCTTGGATGAGGGTGCCTGCAACCCAG|GACACATGGCCCTCCTGTGCAAATAACTCACGATCTTCCTGTGCCCAACTGTCACCGGATACCTGCAAGCGAGTTCACTGGAACCTCATCATTTTCAGCACTGCACAAACCCTTCTTCAGCTTATAGCATAAACACTATTCTATAAAATCCC . 18BR002 ENSG00000145012.13 ENSG00000228952.1(79197),ENSG00000157005.4(140265) +/+ ./+ chr3:188225527 chr3:187528647 5'UTR/splice-site intergenic duplication 0 3 0 14 7 medium . . . . . ENSG00000145012.13 . ENST00000618621.4 . downstream upstream . ^(GTCACTTTTATTTGGGGGTGTGGACAGCTGCTTTCCCAGGGGAGTACTTCTTACAGTGGGATTTCAAGACAAGATCGGCCTGAAGAAAAATTATATTTGTATATTTTTTAAAAA___GTGGGAACTTTGAGGCTCAGAGACAGAGC)AGAAGACAGAACCTGGTCTTCTGATTCCCTGTGTTCTGCTTTTTTCATTGTTCCACTGGACGCTCATCAGAGGGAAGATCTTTTTCCTCAATTG|TTCCTCCAGCATAAAAACAAGACAAAGTTcCTGCAGAGCTGCTCTAACCCAATAATAAAATTGGACAATAAGCTGCATATCTGCCGGAAACCTGGGACTGGCAATGGAGATGAGAAGAGAATCAGAAGG . 18BR002 ENSG00000124201.15 ENSG00000124203.6 -/- +/- chr20:49260463 chr20:59196262 CDS/splice-site intron duplication/5'-5' 0 2 0 39 3 medium out-of-frame . AAA_domain(100%)| . . ENSG00000124201.15 ENSG00000124203.6 ENST00000371754.8 . upstream downstream duplicates(1) ^(TTCCTCGCCATGTCGCGCTTCACACGCACCAAACCGCTCGACGGGTTCCCCTTCCTCTGGGGCCGGCTGAGGCCCGCAAAGGCCTTGGGCGCAGTCATCTCCCGCCCCCCGCGGTCCGCTCCCCTCAGCCGCGCCCGCCTGAGCCCGCCGGCTCCGCCGCCGGGGGGAGCTGAGGTGACGCCCTCCTCGAGGGCGGAGGCGCCGGCCGTGCCTGGGCCAGGCCCTCGTGCTCTCCACCCTGGGCCCCCGCCTCCTCCTTCTCCTCCTCTGGGCCGCCCGCCCGGCTCCGCCCAGGGTCTGCGGGGAACGGAAACCGAAAGTGCGCGGCGCCGGGCGGGGCCACCGACCTGCCTGGGCCGAAGCCCCAGCACTCGCCGGCGGCAGTGAAAGGACGCGCCGGAGCCGG___TTTTCCAGATAACAGAAAGTAACGTGAAGGAATTCAGGTGACTCAGACATGGAGGAGAGAAGACCTCATCTGGATGCCAGGCCCAGGAATTCCCATACCAACCACAGAG___GCCCTGTGGATGGAGAGTTACCACCAAGAGCTAGAAATCAGGCCAATAACCCACCAGCCAATGCTCTCCGAGGAGGAGCCAGCCACCCTGGAAGGCATCCTAGGGCCAACAACCATCCTGCTGCTTACTGGCAGAGGGAAGAGAGATTTAGGGCCATGGGCAGGAACCCACATCAAGGAAGGAGGAACCAGGAGGGGCATGCCAGCGACGAAGCTAGAGACCAAAGACATGACCAGGAGAATGACACCAGGTGGAGAAATGGCAACCAGGACTGTAGGAACCGCAGACCACCATGGTCCAATGACAACTTCCAGCAGTGGCGGACTCCCCACCAGAAGCCTACAGAACAGCCACAGCAGGCGAAGAAACTGGGCTACAAGTTCTTAGAAAGTCTTCTGCAGAAAGACCCTTCTGAGGTGGTCATCACACTTGCCACAAGTTTAGGGCTGAAAGAGCTCCTTTCTCATTCTTCCATGAAATCTAACTTCCTTGAGCTCATCTGTCAGGTTCTTCGGAAGGCTTGTAGCTCCAAAATGGATCGCCAGAGTGTTCTCCATGTACTGGGCATATTGAAAAACTCCAAATTTCTCAAAGTCTGCCTGCCTGCTTATGTGGTAGGGATGATCACTGAACCCATCCCTGACATCCGAAACCAGTATCCAGAGCACATAAGCAACATCATCTCCCTCCTCCAGGACCTTGTAAGTGTCTTCCCTGCCAGCTCTGTGCAGGAAACTTCCATGCTGGTTTCCCTCCTGCCAACCTCTCTTAATGCTCTGAGAGCCTCTGGTGTTGACATAGAAGAGGAAACGGAGAAGAACCTGGAAAAGGTACAGACTATCATTGAACATCTGCAGGAAAAGAGGCGAGAGGGCACTTTGAGAGTGGATACCTACACTCTAGTGCAGCCTGAGGCAGAAGACCATGTTGAGAGCTACCGAACCATGCCCATTTACCCTACCTACAATGAAGTGCACTTGGATGAGAGGCCCTTCCTTCGCCCCAATATCATTTCTGGAAAATACGACAGCACTGCTATCTATCTGGATACCCACTTCCGGCTCCTGCGAGAAGATTTCGTCAGACCTTTACGGGAAGGTATTTTGGAACTTCTCCAAAGCTTTGAAGACCAGGGCCTGAGGAAGAGAAAGTTTGATGACATCCGAATCTACTTTGACACCAGGATTATCACCCCCATGTGTTCATCATCAGGCATAGTCTACAAGGTGCAGTTTGACACAAAACCACTGAAGTTTGTTCGCTGGCAGAATTCCAAACGATTGCTCTATGGGTCTTTGGTATGCATGTCCAAGGACAACTTCGAGACATTTCTTTTTGCCACCGTATCTAACAGGGAGCAGGAAGATCTCTGCCGAGGAATTGTCCAGCTCTGCTTCAATGAGCAAAGCCAACAGCTGCTAGCAGAGGTCCAGCCCTCTGACTCTTTCCTCATGGTAGAGACAACTGCATACTTTGAGGCCTACAGGCACGTCCTGGAAGGACTCCAGGAGGTCCAGGAGGAAGATGTTCCCTTCCAGAGGAATATCGTGGAGTGTAACTCTCATGTGAAGGAGCCAAGGTACTTGCTAATGGGGGGCAGATACGACTTTACCCCCTTAATAGAGAATCCTTCAGCCACTGGGGAATTTCTAAGAAATGTCGAGGGTTTGAGACATCCCAGAATTAATGTCTTAGATCCTGGCCAGTGGCCCTCAAAAGAAGCCCTGAAGCTGGATGACTCCCAGATGGAAGCCTTGCAGTTTGCTCTCACAAGGGAACTGGCTATTATTCAAGGACCTCCTGGAACAG___GCAAAACCTATGTGGGTCTAAAAATTGTTCAGGCCCTCCTAACCAACGAGTCTGTTTGGCAAATTAGCCTCCAGAAGTTCCCCATCTTGGTTGTGTGTTATACTAATCATGCTTTGGACCAGTTTCTGGAAG___GCATCTACAATTGTCAGAAGACCAGCATTGTGCGGGTGGGTGGAAGGAGCAACAGTGAAATCCTGAAGCAGTTCACCCTAAGGGAGCTGAGGAACAAGCGGGAATTCCGCCGCAACCTCCCCATGCACCTCCGAAGGGCCTACATGAGT___ATCATGACACAGATGAAGGAGTCAGAGCAAGAGCTTCATGAAGGAGCCAAGACCCTGGAGTGCACCATGCGTGGTGTCCTACGGGAACAGTACCTGCAGAAGTACATCTCACCCCAGCACTGGGAAAGTCTCATGAATGGACCAGTGCAG___GATAGTGAATGGATTTGCTTCCAGCACTGGAAGCATTCCATGATGCTGGAGTGGCTAGGTCTTGGT)GTCGGTTCTTTCACGCAAAGTGTTTCTCCAGCAGGACCTGAGAATACAG|ACTTAAGTTGAATGGATGTGTTTTCAACCCAGTTATTTCAAAGATTTGCTGGATTCCTGGCCTTAGAAAGGTGCCATCAAAAAATACACAGGCGGTGAGTTGCAAGGGGTGGGAAACAAATTCAGTCCTTTAATCATGAAGCTCTAAACCCTAG MEERRPHLDARPRNSHTNHRGPVDGELPPRARNQANNPPANALRGGASHPGRHPRANNHPAAYWQREERFRAMGRNPHQGRRNQEGHASDEARDQRHDQENDTRWRNGNQDCRNRRPPWSNDNFQQWRTPHQKPTEQPQQAKKLGYKFLESLLQKDPSEVVITLATSLGLKELLSHSSMKSNFLELICQVLRKACSSKMDRQSVLHVLGILKNSKFLKVCLPAYVVGMITEPIPDIRNQYPEHISNIISLLQDLVSVFPASSVQETSMLVSLLPTSLNALRASGVDIEEETEKNLEKVQTIIEHLQEKRREGTLRVDTYTLVQPEAEDHVESYRTMPIYPTYNEVHLDERPFLRPNIISGKYDSTAIYLDTHFRLLREDFVRPLREGILELLQSFEDQGLRKRKFDDIRIYFDTRIITPMCSSSGIVYKVQFDTKPLKFVRWQNSKRLLYGSLVCMSKDNFETFLFATVSNREQEDLCRGIVQLCFNEQSQQLLAEVQPSDSFLMVETTAYFEAYRHVLEGLQEVQEEDVPFQRNIVECNSHVKEPRYLLMGGRYDFTPLIENPSATGEFLRNVEGLRHPRINVLDPGQWPSKEALKLDDSQMEALQFALTRELAIIQGPPGTGKTYVGLKIVQALLTNESVWQISLQKFPILVVCYTNHALDQFLEGIYNCQKTSIVRVGGRSNSEILKQFTLRELRNKREFRRNLPMHLRRAYMSIMTQMKESEQELHEGAKTLECTMRGVLREQYLQKYISPQHWESLMNGPVQDSEWICFQHWKHSMMLEWLGLGVGSFTQSVSPAGPENT|dls* 18BR002 ENSG00000099204.20 ENSG00000108018.15(114672),ENSG00000200079.1(182354) -/- ./- chr10:114491791 chr10:107279206 CDS/splice-site intergenic deletion 0 2 0 20 6 medium out-of-frame . LIM_domain(100%),Putative_adherens-junction_anchoring_region_of_AbLIM(100%)| . . ENSG00000099204.20 . ENST00000533213.6 . upstream downstream . ^(GTCATTGAGCTGATGTGCTTTTGCAAGGGGTCTCTTTAGAAGTGGTAGGGGCAGGGTCGAGAGAAGAAGGGGATGCAGAATCTGTACATGAGGAAGGAGCCAGAGTCACTCAGGAAACTCCTCATTCTTCCTGCGCTGGCTGTGGCACACCCACCGGTGGCACACCCCTCCCTCGGGTCCAGTTCAGCCCACAGACTCCTGGGAGGAGAGCCAGGGCCCCAGCCTCTCCTTTGAGGAGTGTTGCAGCCTTTCTGTGTGCCAGATGCCTAGTGAAGAAAAGCTGAAACCCTGGAGCTTTGTGCATGTTAATGACCTTGGAAATGACTGAGCTCACGGACCCTCATCACACCATGGGAGACTACAAAG___TGGCCCACCCTCAGGACCCTCACCACCCATCAGAGAAGCCTGTCATTCACTGCCATAAATGTGGGGAGCCTTGCAAGGGTGAAGTGCTTCGGGTCCAGACCAAACATTTCCACATCAAGTGTTTCACCTGCAAAG___TGTGTGGCTGTGACCTGGCACAAGGGGGCTTCTTCATAAAGAACGGAGAGTATCTCTGCACCCTGGACTACCAGCGGATGTACGGGACACGCTGCCATGGCTGTGGGGAGTTCGTGGAGGGCGAAGTGGTGACTGCTCTGGGCAAGACCTACCATCCCAATTGCTTTGCTTGTACTATCTGCAA___GCGCCCGTTTCCACCCGGAGACCGAGTCACATTCAATGGGAGAGACTGCCTTTGTCAACTCTGTGCACAGCCGATGTCGTCCAGTCCGAAAGAAACCACCTTCTCCAGCA___ATTGTGCCGGCTGCGGAAGAGATATCAAGAATGGGCAGGCGCTGCTGGCGCTGGATAAGCAGTGGCACTTGGGGTGCTTTAAATGCAAGTCCTGCGGGAAGGTCCTCACCGGGGAGTACATCAGCAA___GGATGGTGCTCCGTACTGTGAAAAGGACTACCAGGGACTCTTTGGGGTGAAATGTGAGGCGTGTCACCAGTTTATCACAGGGAAAGTCCTGGAG___)GCAGGTGACAAACATTACCACCCCAGCTGTGCACGATGCAGCAGATGCAACCAGATGTTCACAGAAGGAGAGGAAATGTATCTTCAAG|GCACAGGACCATTCAATCAATCAACTTCACTCACTCTCCACTTCCTCAGAAAACTGGATGATGAGTTGAAGGATCATGGCCTTGGAGACATTGCTGATGAACATGGCAGAGATGCTGTCTCCCCCAAAGGACAGATAGCAACAGTCTGATATAAGCAAG MLMTLEMTELTDPHHTMGDYKVAHPQDPHHPSEKPVIHCHKCGEPCKGEVLRVQTKHFHIKCFTCKVCGCDLAQGGFFIKNGEYLCTLDYQRMYGTRCHGCGEFVEGEVVTALGKTYHPNCFACTICKRPFPPGDRVTFNGRDCLCQLCAQPMSSSPKETTFSSNCAGCGRDIKNGQALLALDKQWHLGCFKCKSCGKVLTGEYISKDGAPYCEKDYQGLFGVKCEACHQFITGKVLEAGDKHYHPSCARCSRCNQMFTEGEEMYLQ|gtgpfnqstsltlhflrklddelkdhglgdiadehgrdavspkgqiatv* 18BR002 ENSG00000140718.21 ENSG00000251888.1(35296),ENSG00000259873.1(206742) +/+ ./- chr16:53934109 chr16:82228086 CDS/splice-site intergenic inversion 0 2 0 59 3 medium out-of-frame . FTO_C-terminal_domain(100%),FTO_catalytic_domain(100%)| . . ENSG00000140718.21 . ENST00000637969.1 . downstream downstream duplicates(1) ^(CGGTGGCGAAGGCGGCTTTAGTGGCAGCATGAAGCGCACCCCGACTGCCGAGGAACGAGAGCGCGAAGCTAAG___AAACTGAGGCTTCTTGAAGAGCTTGAAGACACTTGGCTCCCTTATCTGACCCCCAAAGATGATGAATTCTATCAGCAG___TGGCAGCTGAAATATCCTAAACTAATTCTCCGAGAAGCCAGCAGTGTATCTGAGGAGCTCCATAAAGAGGTTCAAGAAGCCTTTCTCACACTGCACAAGCATGGCTGCTTATTTCGGGACCTGGTTAGGATCCAAGGCAAAGATCTGCTCACTCCGGTATCTCGCATCCTCATTGGTAATCCAGGCTGCACCTACAAGTACCTGAACACCAGGCTCTTTACGGTCCCCTGGCCAGTGAAAGGGTCTAATATAAAACACACCGAGGCTGAAATAGCCGCTGCTTGTGAGACCTTCCTCAAGCTCAATGACTACCTGCAGATAGAAACCATCCAGGCTTTGGAAGAACTTGCTGCCAAAGAGAAGGCTAATGAGGATGCTGTGCCATTGTGTATGTCTGCAGATTTCCCCAGGGTTGGGATGGGTTCATCCTACAACGGACAAGATGAAGTGGACATTAAGAGCAGAGCAGCATACAACGTAACTTTGCTGAATTTCATGGATCCTCAGAAAATGCCATACCTGAAAGAGGAACCTTATTTTGGCATGGGGAAAATGGCAGTGAGCTGGCATCATGATGAAAATCTGGTGGACAGGTCAGCGGTGGCAGTGTACAGTTATAGCTGTGAAG___GCCCTGAAGAGGAAAGTGAGGATGACTCTCATCTCGAAGGCAGGGATCCTGATATTTGGCATGTTGGTTTTAAGATCTCATGGGACATAGAGACACCTGGTTTGGCGATACCCCTTCACCAAGGAGACTGCTATTTCATGCTTG___ATGATCTCAATGCCACCCACCAACACTGTGTTTTGGCCGGTTCACAACCTCGGTTTAGTTCCACCCACCGAGTGGCAGAG___TGCTCAACAGGAACCTTGGATTATATTTTACAACGCTGTCAGTTGGCTCTGCAGAATGTCTGTGACGATGTGGACAATGATGATGTCTCTTTGAAATCCTTTGAGCCTGCAGTTTTGAAACAAGGAGAAGAAATTCATAATGAG___GTCGAGTTTGAGTGGCTGAGGCAGTTTTGGTTTCAAGGCAATCGATACAGAAAGTGCACTGACTGGTGGTGTCAACCCATGGCTCAACTGGAAGCACTGTGGAAGAAGATGGAGGGTGTG___ACAAATGCTGTGCTTCATGAAGTTAAAAGAGAGGGGCTCCCCGTGGAACAAAGGAATGAAATCTTGACTGCCATCCTTGCCT)CGCTCACTGCACGCCAGAACCTGAGGAGAGAATGGCATGCCAG|ATCAGCTCTGCACAGAGGCCTTCTCTACATACCCAATACAAATGAAATGCTTGAGCAGTCTCACCTACGTTCTGCAATTTGACTTCCATGCATAGCGCCTGGTTGTTTGCCTTGAACATTCGTCAGAATCACCCAGAGAACTGTTACAACCCAGATTCCTGCG MKRTPTAEEREREAKKLRLLEELEDTWLPYLTPKDDEFYQQWQLKYPKLILREASSVSEELHKEVQEAFLTLHKHGCLFRDLVRIQGKDLLTPVSRILIGNPGCTYKYLNTRLFTVPWPVKGSNIKHTEAEIAAACETFLKLNDYLQIETIQALEELAAKEKANEDAVPLCMSADFPRVGMGSSYNGQDEVDIKSRAAYNVTLLNFMDPQKMPYLKEEPYFGMGKMAVSWHHDENLVDRSAVAVYSYSCEGPEEESEDDSHLEGRDPDIWHVGFKISWDIETPGLAIPLHQGDCYFMLDDLNATHQHCVLAGSQPRFSSTHRVAECSTGTLDYILQRCQLALQNVCDDVDNDDVSLKSFEPAVLKQGEEIHNEVEFEWLRQFWFQGNRYRKCTDWWCQPMAQLEALWKKMEGVTNAVLHEVKREGLPVEQRNEILTAILASLTARQNLRREWHAr|salhrgllyipntnemleqshlrsai* 18BR002 ENSG00000140718.21 ENSG00000251888.1(55840),ENSG00000259873.1(186198) +/+ ./- chr16:53934109 chr16:82248630 CDS/splice-site intergenic inversion 1 1 0 59 6 medium out-of-frame . FTO_C-terminal_domain(100%),FTO_catalytic_domain(100%)| . . ENSG00000140718.21 . ENST00000637969.1 . downstream downstream . ^(CGGTGGCGAAGGCGGCTTTAGTGGCAGCATGAAGCGCACCCCGACTGCCGAGGAACGAGAGCGCGAAGCTAAG___AAACTGAGGCTTCTTGAAGAGCTTGAAGACACTTGGCTCCCTTATCTGACCCCCAAAGATGATGAATTCTATCAGCAG___TGGCAGCTGAAATATCCTAAACTAATTCTCCGAGAAGCCAGCAGTGTATCTGAGGAGCTCCATAAAGAGGTTCAAGAAGCCTTTCTCACACTGCACAAGCATGGCTGCTTATTTCGGGACCTGGTTAGGATCCAAGGCAAAGATCTGCTCACTCCGGTATCTCGCATCCTCATTGGTAATCCAGGCTGCACCTACAAGTACCTGAACACCAGGCTCTTTACGGTCCCCTGGCCAGTGAAAGGGTCTAATATAAAACACACCGAGGCTGAAATAGCCGCTGCTTGTGAGACCTTCCTCAAGCTCAATGACTACCTGCAGATAGAAACCATCCAGGCTTTGGAAGAACTTGCTGCCAAAGAGAAGGCTAATGAGGATGCTGTGCCATTGTGTATGTCTGCAGATTTCCCCAGGGTTGGGATGGGTTCATCCTACAACGGACAAGATGAAGTGGACATTAAGAGCAGAGCAGCATACAACGTAACTTTGCTGAATTTCATGGATCCTCAGAAAATGCCATACCTGAAAGAGGAACCTTATTTTGGCATGGGGAAAATGGCAGTGAGCTGGCATCATGATGAAAATCTGGTGGACAGGTCAGCGGTGGCAGTGTACAGTTATAGCTGTGAAG___GCCCTGAAGAGGAAAGTGAGGATGACTCTCATCTCGAAGGCAGGGATCCTGATATTTGGCATGTTGGTTTTAAGATCTCATGGGACATAGAGACACCTGGTTTGGCGATACCCCTTCACCAAGGAGACTGCTATTTCATGCTTG___ATGATCTCAATGCCACCCACCAACACTGTGTTTTGGCCGGTTCACAACCTCGGTTTAGTTCCACCCACCGAGTGGCAGAG___TGCTCAACAGGAACCTTGGATTATATTTTACAACGCTGTCAGTTGGCTCTGCAGAATGTCTGTGACGATGTGGACAATGATGATGTCTCTTTGAAATCCTTTGAGCCTGCAGTTTTGAAACAAGGAGAAGAAATTCATAATGAG___GTCGAGTTTGAGTGGCTGAGGCAGTTTTGGTTTCAAGGCAATCGATACAGAAAGTGCACTGACTGGTGGTGTCAACCCATGGCTCAACTGGAAGCACTGTGGAAGAAGATGGAGGGTGTG___ACAAATGCTGTGCTTCATGAA)GTTAAAAGAGAGGGGCTCCCCGTGGAACAAAGGAATGAAATCTTGACTGCCATCCTTGCCTCGCTCACTGCACGCCAGAACCTGAGGAGAGAATGGCATGCCAG|CTGTCAGATCTTCACTGTGATCTGAAGGCCTTCAGATGATGAAACTGAGCCCCAGAGACAGAGCATACCTGCCCAATCTTTCTCAACAGATCCATGTTCCAGCTAGAAACAGA MKRTPTAEEREREAKKLRLLEELEDTWLPYLTPKDDEFYQQWQLKYPKLILREASSVSEELHKEVQEAFLTLHKHGCLFRDLVRIQGKDLLTPVSRILIGNPGCTYKYLNTRLFTVPWPVKGSNIKHTEAEIAAACETFLKLNDYLQIETIQALEELAAKEKANEDAVPLCMSADFPRVGMGSSYNGQDEVDIKSRAAYNVTLLNFMDPQKMPYLKEEPYFGMGKMAVSWHHDENLVDRSAVAVYSYSCEGPEEESEDDSHLEGRDPDIWHVGFKISWDIETPGLAIPLHQGDCYFMLDDLNATHQHCVLAGSQPRFSSTHRVAECSTGTLDYILQRCQLALQNVCDDVDNDDVSLKSFEPAVLKQGEEIHNEVEFEWLRQFWFQGNRYRKCTDWWCQPMAQLEALWKKMEGVTNAVLHEVKREGLPVEQRNEILTAILASLTARQNLRREWHAs|cqiftvi* 18BR002 ENSG00000180263.14 ENSG00000057704.13 -/- -/- chr12:95172600 chr12:94582538 CDS/splice-site CDS/splice-site deletion 1 1 0 32 12 medium in-frame . |Predicted_transmembrane_and_coiled-coil_2_protein(100%) . . ENSG00000180263.14 ENSG00000057704.13 ENST00000343958.9 ENST00000261226.9 upstream downstream . ^(GCTAGTGCTCGCCCGCCCGACCCCGGCGGCTCGCGCCCGGGAGCGCCGCAGGGTCGCTAGAGTCGGCCGCGTCCTTTGTGTGGCGCTCAGGCTGCGCCGCGGGGCGGCGGGACGGAATGTGGGCGCTGCGGGGGCTTTTCTCTCCTACCCGAACTGTGGGAACAATGGACTGAAAGGGGAAGATGGATTGAGGGGCCGAGCGGGGAAGCGAGCTGCACCGGGGAATCATGACTTCTGCAGCCG___AGATAAAGAAGCCACCAGTGGCCCCCAAGCCCAAGTTTGTTGTGGCAAATAATAAGCCAGCCCCACCTCCTATTGCACCTAAACCCGACATTGTGATTTCTAGTGTTCCACAGTCGACAAAGAAAATGAAACCAGCAATAGCCCCAAAACCAAAAGTCCTGAAGACCTCACCTGTTCGAGAGATTGGGCAGTCGCCATCAAGGAAAATCATGTTGAACCTGGAAGGGCATAAACAGGAATTAGCTGAAAGCACTGACAACTTTAATTGTAAATATGAAGGCAATCAGAGCAATGATTATATTTCACCAATGTGTTCCTGCAGTTCTGAGTGTATCCATAAGCTGGGCCATAGAGAGAATTTGTGTGTAAAGCAGCTTGTTTTAGAGCCCCTGGAAATGAATGAAAATTTAGAAAACAGTAAAATTGATGAGACTTTGACTATAAAAACTAGGAGTAAATGTGATTTGTATGGTGAAAAAGCCAAGAACCAGGGTGGGGTTGTTTTAAAGGCAAGCGTTTTAGAAGAGGAGCTCAAAGATGCCTTAATACACCAAATGCCACCTTTTATTTCTGCACAGAAGCACAGGCCCACAGACAGCCCAGAAATGAATGGTGGCTGTAATTCAAATGGACAATTCAGAATTGAATTTGCGGATTTGTCACCTTCCCCATCCAGCTTTGAAAAAGTTCCTGATCATCACAGTTGCCACTTACAGCTTCCTAGTGATGAATGTGAACATTTTGAAACTTGCCAGGATGACAGTGAAAAAAGCAATAATTGCTTTCAGTCATCTGAACTAGAGGCTCTGGAAAATGGGAAAAGGAGTACTTTAATATCTTCAGATGGAGTTAGTAAGAAATCAGAAGTCAAAGACCTTGGTCCCTTAGAAATTCATTTAGTACCATATACCCCAAAATTTCCAACTCCCAAGCCCAGAAAGACACGAACTGCTCGTCTGTTACGCCAAAAGTGTGTAGATACTCCTAGTGAAAGCACTGAAGAACCGGGGAATTCAGACAGTAGCTCTTCCTGTCTTACTGAAAATAGTTTGAAAATCAATAAAATCAGTGTTCTGCATCAGAATGTTTTGTGTAAGCAGGAACAGGTGGATAAAATGAAGCTAGGAAATAAAAGTGAATTGAATATGGAATCCAACAGTGATGCACAGGACTTAGTCAATTCACAGAAAGCCATGTGTAATGAAACAACTTCCTTTGAAAAAATGGCACCTTCTTTTGATAAAGACTCTAATTTGAGTTCTGACAGCACAACTGTAGATGGTTCTAGTATGTCGCTTGCTGTGGACGAAGGGACCGGTTTTATAAGATGTACTGTATCTATGAGCCTGCCTAAGCAGCTCAAATTAACTTGCAATGAACATTTGCAATCTGGGAGAAACCTGGGAGTTTCTGCCCCTCAAATGCAAAAGGAATCTGTTATAAAAGAGGAAAATTCTCTACGAATTGTCCCCAAAAAACCTCAAAGACATAGCTTGCCTGCTACAGGAGTGCTTAAAAAGGCTGCCTCCGAGGAGCTTTTGGAAAAAAGTTCTTATCCTTCAAGTGAAGAAAAAAGTTCAGAGAAGAGTCTAGAAAGAAATCACCTTCAGCATTTGTGTGCCCAAAACCGTGGTGTGTCATCCTCCTTTGATATGCCTAAACGGGCTTCAGAAAAGCCAGTGTGGAAGTTACCTCATCCTATTTTACCCTTTTCAGGGAACCCAGAATTCTTAAAGTCTGTCACCGTATCGTCAAACAGTGAGCCTTCAACAGCCCTAACCAAGCCCAGAGCAAAATCGTTATCTGCTATGGATGTGGAAAAGTGCACTAAGCCTTGCAAAGACTCTACAAAGAAAAACTCTTTTAAAAAGTTGCTCAGCATGAAACTGTCCATCTGTTTCATGAAGAGTGACTTTCAAAAATTTTGGTCCAAGAGTAGCCAACTCGGAGACACCACCACAGGCCACCTCTCCAGTGGGGAGCAGAAGGGGATTGAAAGTGATTGGCAAGGCTTGTTGGTAGGAGAGGAGAAGAGAAGTAAACCCATCAAGGCATATTCCACAGAAAACTATAGCCTGGAATCTCAAAAGAAGAGGAAGAAGTCTCGGGGCCAGACCAGTGCAGCTAATGGTCTGAGAGCTGAGTCTTTGGATGACCAAATGCTCTCCCGGGAGTCATCATCTCAGGCACCTTACAAGTCTGTTACAAGCCTCTGTGCACCGGAGTATGAAAATATACGCCATTATGAGGAAATACCAGAGTACGAGAACTTGCCATTTATTATGGCTATACGGAAAACTCAAGAGTTGGAATGGCAGAATTCCAGCAGCATGGAGGACGCTGATGCAAATGTGTATGAGGTAGAAGAGCCGTATGAAGCTCCAGATGGCCAGCTGCAGCTTGGACCCAGACATCAGCATTCCAG___TTCAGGAGCATCCCAGGAGGAACAGAATG)ATCTTGGTCTTGGTGACCTTCCCTCTGATGAGGAGGAAATCATCAACAGTTCTGATGAAGATGATGTCAGCTCTGAGTCAAGTAAAGGAGAGCCTGACCCACTGGAAGATAAACAG|GTAGAACGTCATGACATGAATACCTTAAGCCTGCCCCTGAACATACGCCGAGGGGGG(TCAGACACCAACCTCAACTTTGATGTCCCGGATGGCATCCTGGACTTCCACAAGGTCAAACTCACTGCAGACAGCCTGAAGCAAAAAATTCTAAAGGTAACAGAGCAGATAAAAATTGAGCAAACATCGCGCGATGGGAATGTTGCGGAGTATCTGAAACTAGTGAACAACGCAGACAAGCAGCAGGCGGGACGTATCAAGCAAGTCTTTGAGAAGAAGAATCAGAAATCAGCTCACTCCATCGCCCAGCTGCAGAAGAAGTTAGAGCAGTATCATCGAAAGCTCAGAGAGATCGAGCAGAATGGAGCCTCTAGGAGCTCAAAGGACATTTCCAAAGACCACCTGAAGGATATACATCGCTCTTTGAAAGATGCCCACGTGAAATCTCGAACTGCCCCCCATTGCATGGAGAGCAGCAAATCGGGCATGCCAGGGGTCTCACTTACTCCACCTGTGTTCGTTTTCAATAAGTCCAGAGAGTTTGCCAACCTGATCCGGAATAAGTTTGGCAGCGCCGACAACATTGCTCACTTGAAAAATTCCTTAGAGGAGTTTAGGCCAGAGGCGAGTGCCAGGGCCTACGGGGGCAGCGCTACCATCGTGAACAAACCCAAGTATGGCAGTGATGATGAATGTTCGAGTGGCACGTCAGGCTCGGCCGACAGTAACGGAAACCAGTCGTTTGGGGCTGGTGGAGCCAGCACACTGGACAGCCAGGGCAAGCTCGCCGTGATCCTGGAGGAACTGAGGGAGATCAAGGATACCCAAGCTCAGCTGGCTGAGGACATCGAGGCACTGAAGGTGCAGTTTAAGAGAGAATATGGTTTTATTTCTCAGACCCTGCAAGAGGAAAGATACAG___GTATGAGCGACTGGAGGACCAGCTGCATGACCTGACGGACCTGCATCAGCATGAGACAGCCAACCTGAAGCAGGAGCTGGCCAGCATTGAGGAGAAGGTGGCCTACCAGGCCTACGAGCGCTCGCGGGACATCCAG___GAAGCCTTGGAATCCTGCCAGACTCGCATTTCTAAGCTGGAGCTCCACCAGCAAGAGCAGCAAGCTCTGCAGACAGACACCGTGAATGCTAAAGTTCTCCTGGGGAGGTGCATCAACGTGATCCTGGCCTTCATGACTGTCATCTTAGTGTGTGTGTCCACCATCGCGAAGTTCGTCTCACCCATGATGAAGAGTCGCTGCCACATTCTTGGCACCTTCTTTGCCGTGACTCTTCTTGCTATATTTTGTAAAAACTGGGACCATATCCTGTGTGCCATAGAAAGGATGATAATACCAAGATGAAGCCACTGGTTCCTGCCTTCAAGTTCTTTCAAGTTTTTATTTTAAAGAAAACTCTGTGCATACTACCAAATTTTACAGTGAATGATTGTGCGGACTCGTGTGTAAGAAAAACTAGGACTGTGTGGTGTAAATAACTACAATTCTCTTAACTCCGTAGCAGTTGCCAACTCAGTCCTTGTACTTCGTTAACACGAATCTGTTTCAGAGCTCTCCTACCTTGCTCACTGCCTTAATCAGACCGATTTCCTGCCCACCTGACCAGCCCAGCGTGGTAAACCTCTGTATATTGAGACCTTGGCATAATTGGTGATCCTGAAGAAAGAGGTCTCTCTCCTAAGTCTCTGTCAGAATTGAGCTTCACAATTGCTAATGGTTGTTTTCTGTGAGTCCTATAAAAAGCAAGGATATGCATGATTCAGGGAATGAAGAATCACAGGCTTGGGCAGTGTTAAACACTGTGGCCTATGGTCCCCGTGTGATCCACCCTGCTTCTCTCCAGGGGACCATAGGTCCCGTCATGTACTCAGTGTCCACAGCAGTCAGTCGTGTATGACCCTGTAACGTGGAAATCTTATCACACACCTGTTATCCAACAAGTCTACCTGAGGGGTTTTGTTACACTTTAAATGGGAAGGCATAGGGATTTATGAATGGGGCTTTCACCTTCTCATACCCAGGCAACCAACACCTGATTTTGTCTCAACTGGCTAGCAAATGCCCAGCCTTCAGAGTGTGCAGGAATGTTTTCAAATCCCTCATCAGACTGTGACTTTAACATTAATTTGGAATCCTGTGAGCACTACTCTGAAGGTTTGTGTTTTGGCAAATCTTTTTTCTTTTTTGAGACAGGGCTCTGCTAAATATTGCTCAGGCTGGTTGCAAACTCCTTGCTTCAAGGGATCCTCCCACCTCAGCCTCCCAAGCAGCCGGGACTGCAGGCACAAGCCACCATGCCTGGCTGTTTTTTGGCAAATCTTGATTGTGATAAGCCCCCCTGGAGGATATGATTCACTTTATGTGATTCATCTTATTCACAGGTCTGTGAGGGACTGCAAAGCTTACTCAGGAAATGAAAACAAATGATGGTCATGTTGCAGTTTTTTCCTTGAAGGACAACCGAACCATAGCCTCTAAAGTTCAAGTGCACTGAGGTGTCGGAACGCTGAAAGCATGAGGAAACGAGGACGTAGGGTGTGACTGAATGGTGGCTAGATTAGTGGGAGCAGTTCACCTGGATGAAGATTGAGAGCATCGTCTTTGAGAAGTGAAAGACTAGCAAGAATAAAATAAATTAAGTCCAGTGTTTGAGCCAAGGTTGCCACCTGTCTCTTAACATCTCACTGAACATAAGTCCTGAGGTATTAGGACGACCATACTGCCTCTGAGCTGAAAACATTCAAAAGTTCACATCCCTGTTTGGGGGATACCATTCACCGCCTTCAGCCCAGATGATACTTTCCTTTAAATCTGTGTCTCTGTGTGTATAACAAAGAGGAAGATGGAAACAATGTTCATGGAAACTGCTGTTGAGCCCCTTGTCCCACCACTCCCGCCATCTGCTGCAGGCAGGAAGGCATGTGAGTGTACGTTTTCTTCCAGGAGACATCAGGTCCCCCTGGATTCAAATTAAGTGCAATATTTTGCAAACAGCTCTTCTTAGGGAAATCTCCTGAAGGAAAAAAATGTGACAGAATGTTCCATAGTCTGAGAGAATGGAATCGTTGAGCATTTAGTACAAGTCCAGTGTGTGTGAGCGGGACTTAGGCAGCTCAAGCTTGCTTTTTTTTTTAAGCGTACAATTGAGTGGTTTTAGTAAATTCACAAACTTGTTCAACCATCACCACTATCTAATTCCAGACTCACGCTTTTTTAAACAATAAATGTCATTTCATGAAATCTTTGGTGATAAAGTATTTTGGATTCAGAGAAGAGCTCCCTTACCAGTCCCACCCTGATCTCATGGCTGTCTCTCCTTTCATTGTCAGACTCCCCCTGGTCTACCGCGTTGATGTGTATACACTGATCTTTCAAGTCTGGGAGACAGATAAGGAGGCCAGGTGCAAGGCAGGGAGGCAGAGAGAATGTTGTGCTTCCTTTAGCTTTTGTATTTCGATGGCCAGCATTACCCTTTACCTGTGGGCATCAGACTCAGCGTGGGCTGAGTGCTGAGTGTAACTTACACTCCTAAATCAAGCTGGGGCCTGGGTGGGCCCCTCTTGGTATCTGTGAATCTTTCCAAGCACCACTTCGGACACACCAGGGATTGAGTGCTGCTGTTAGTTTAGAGAAGGAGAGATGTCTAACCCTTGAGGTGAAGGGCTCTGGGAGGGTCCAAGAAGACGTAGGCTTCATTTTCACACCAGCCCACACCATTCCAGTGCTCAGCCTAGCAAATGTGCTTTAATGCACACTTCTCAGACCTGTGATCCGTGTATCTTCTCCCCAGTGACAGAAGTAGAGAAGAGAATGGAAAGCAGCACACTCCGTCCCCTCTAGTCTGGAGCTGTTAACAGAATCTGCTAGAAACTAGCTTTATTCTAACATACCGTAGGATCTAAATCCTCCTACCTGGATCATGAATTCCTTTGAAATAATTCATATTTTCATTGACTCTCACTAAATGTCAAATAACCTTGTTTTCACTTGGATAGGCTCAACCTACCTGGCATATTTATTTTGCAGTCTTGTTGAAAGTTCATGAAACTTTGTACTTTTTAATAAGATGATACACTCGAAGGAAACTTTTAATCTCTGCAGTTTATTCTCTCTTAAGGAATAAACACTCCCACTGTTTGTTCTCTTCAATGTGTAAGGAGATTAAATGACATTTTAGAAATATTACAATTAAAAATAGTGATGTAGCTGTAACATATGCTGGAATTGGATATTTAATTTATGTTTGTGTCAACTATAATCCTTTCCCCACCCCTTTCATTTATGGTAAACATCTTGGGCAAACCCAAAGATGGAAAGTGCTTGTTGGGTGGGTAAGCACCACCTGGTCTCTCAGCAAACACTCCTGAGTGGTTGAAGATGCTGGACATTGGATTCTAGCACTGGGTTTATCTGGTGACATAGTCTCCTGTGGGTCTTGAGTTGGTTATTTCAAGCTCAAACTCTGAATATGATTAAACCAGAACACCCCACCCCCAACTGCCAAAAAAAAAAAAAAAAAATGGAAATCCATAATGAAACAGCAAAAAAGTACTCCGTTGCTGGGTTTGGACAATGAACATGGGATTAGTCCCAAGTTTGTAGCTTGGAACGGTAGCATTTTTGCCTGCGTGATCCTTGTCAGCTATTCACAGAAGGAAATCTTCCGAAACTCCGTCTTTCATTTCAGCCGGTGAGGCTGTTATCCTTCTCTGTCAATTAGCATTCATGTGGTTTTCGCTCTTTCCAGCTCTGTCACTCTTGTTTTCATTTAAATATTGCCCCACTCTGTGTTTATTGCCTTGCCATTTCTCTAGCATATCAGGTTTAATTATGGGCTCAGTAATAATGAGGAACTAGCTTCCCTCAGGCAACTAATTACTTTTGTCTTTTTTGGTCGGATTGTACCAAATTATTTTGCATTGAATGGGAATGTTTTTGCAGTGAATCCAGATATAGTTGTATTGGTTTGGAAAAACATTTAAATATATTTATTCATATGAACATGTGTGATTAAACAACCTATTTTACATATTTCTGTAATTCTGAGGAGTGGGCTGGGGGTAGGAAGAAATGGCACCACTTAAAATTCAGGGCTTATATGAAGAGGTGTTTTAAGGTTAGCACATGCACAAAGGAACGAGTTGGTTTAAAAAGATAAATCACTGCAAAGAATGAAATTGGCTTATTCACATCAAAACTAGATAAGATGCTAAAAAAAAAAGATATGAAACAGAACTAACCTATAGTTTCCTGAAATCAGTACAGTTTAATTTATAAGAAGCTAGAAAGTAATGCACCTTGATTGTTTTAGGAATGATTTATGTGTTGCAATTTTAATTTATTTAAAGCATGTCTACTGTGTTTGTCCTAAGAGAAATATTTCAACAAAACGTGCTCTGTGTTTAAGATATGTTTAGGCAGTAGTTAGCAACTCTGAAAGTAGAAACTGGAAATGTTTATTGTGAGGCTTGTTGCAGAATTTCCATTTTGTGAGTTACTACTTAGTTTCATGTCAGCCTAAAATTGTAAATTCCCTGTAGATCTTCACCCCATTGTGGTGTCATCAATGAATCCAAAGCAGGTGCCATTATTTTTTTAAATAAACACTTGATGTTAGCTTTGGTGTTAAATAAAGAGGTAGATTTCTTAAATTTTCA)$ MTSAAEIKKPPVAPKPKFVVANNKPAPPPIAPKPDIVISSVPQSTKKMKPAIAPKPKVLKTSPVREIGQSPSRKIMLNLEGHKQELAESTDNFNCKYEGNQSNDYISPMCSCSSECIHKLGHRENLCVKQLVLEPLEMNENLENSKIDETLTIKTRSKCDLYGEKAKNQGGVVLKASVLEEELKDALIHQMPPFISAQKHRPTDSPEMNGGCNSNGQFRIEFADLSPSPSSFEKVPDHHSCHLQLPSDECEHFETCQDDSEKSNNCFQSSELEALENGKRSTLISSDGVSKKSEVKDLGPLEIHLVPYTPKFPTPKPRKTRTARLLRQKCVDTPSESTEEPGNSDSSSSCLTENSLKINKISVLHQNVLCKQEQVDKMKLGNKSELNMESNSDAQDLVNSQKAMCNETTSFEKMAPSFDKDSNLSSDSTTVDGSSMSLAVDEGTGFIRCTVSMSLPKQLKLTCNEHLQSGRNLGVSAPQMQKESVIKEENSLRIVPKKPQRHSLPATGVLKKAASEELLEKSSYPSSEEKSSEKSLERNHLQHLCAQNRGVSSSFDMPKRASEKPVWKLPHPILPFSGNPEFLKSVTVSSNSEPSTALTKPRAKSLSAMDVEKCTKPCKDSTKKNSFKKLLSMKLSICFMKSDFQKFWSKSSQLGDTTTGHLSSGEQKGIESDWQGLLVGEEKRSKPIKAYSTENYSLESQKKRKKSRGQTSAANGLRAESLDDQMLSRESSSQAPYKSVTSLCAPEYENIRHYEEIPEYENLPFIMAIRKTQELEWQNSSSMEDADANVYEVEEPYEAPDGQLQLGPRHQHSSSGASQEEQNDLGLGDLPSDEEEIINSSDEDDVSSESSKGEPDPLEDKQ|VERHDMNTLSLPLNIRRGGSDTNLNFDVPDGILDFHKVKLTADSLKQKILKVTEQIKIEQTSRDGNVAEYLKLVNNADKQQAGRIKQVFEKKNQKSAHSIAQLQKKLEQYHRKLREIEQNGASRSSKDISKDHLKDIHRSLKDAHVKSRTAPHCMESSKSGMPGVSLTPPVFVFNKSREFANLIRNKFGSADNIAHLKNSLEEFRPEASARAYGGSATIVNKPKYGSDDECSSGTSGSADSNGNQSFGAGGASTLDSQGKLAVILEELREIKDTQAQLAEDIEALKVQFKREYGFISQTLQEERYRYERLEDQLHDLTDLHQHETANLKQELASIEEKVAYQAYERSRDIQEALESCQTRISKLELHQQEQQALQTDTVNAKVLLGRCINVILAFMTVILVCVSTIAKFVSPMMKSRCHILGTFFAVTLLAIFCKNWDHILCAIERMIIPR* 18BR003 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 9 39 0 120 375 high . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000328189.7 upstream downstream duplicates(6),low_entropy(1),mismatches(3) CTGCaGTCAACAGGGTAGCAAAGTACAATCCTCCCGAGACCTTAGGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG(___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACC)$ . 18BR003 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 10 12 0 85 31 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream low_entropy(2),mismatches(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___)GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 18BR003 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 19 0 39 75 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(3),inconsistently_clipped(1),mismappers(4) CGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGT(CTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 18BR003 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 5 0 21 15 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismatches(1) CATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAA(GAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 18BR003 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 5 0 176 45 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAA)ACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 18BR003 ENSG00000285677.2 ENSG00000116584.20 +/- -/- chr1:156002441 chr1:155989351 exon CDS/splice-site deletion/read-through/3'-3' 6 4 0 51 77 high . . |RhoGEF_domain(100%) . . ENSG00000285677.2 ENSG00000116584.20 . ENST00000673475.1 upstream downstream duplicates(2) TCTGGACTGGAATGAGTCCCCCCTTTCTCTTATGCAAACTTCTGGACCATGAACAGCTCCCTTAAAAGGACCAAGAGAGAGGGGACCCCCACCAAAGTGCTGGACTGGGTTCTTAAAGGGGCCACCTGAAGCAGGACTTTTTCCCACACTGAAGTCACCAACTGACAGCAGAAACAGGTCCCCCATCTTTGGGATATCTCCCAGTTCTG|GAGGAGACTGCAAGCATCGGGATGCCCAGGCCCCAAGGAGGCCCTCTTCCTGCAGATCCGAGAAGGACTGGACACCTTTCTGGGACTGCAGCACCAGGGTGGCTACGCCTCCCGGCTG___GATCAGGATTCCTGTCATCCATCTGCTGGCCCTTTGGACCACTCGGCCACTGGCATGCTTTCCAAGTCTGTACCCGTGAGTGGCATCAACTGTCTCTTGGACCGTTCGGATACAGATG___GGAATGTATCCCAGTCCTCTGCCATTGACCTCAGG(AAACG___CTGCAGCCAGCTGGAAGGACATTCAGGTACCCGGGTAGGCTCCTCCCTGCGACAGACCTTCAGCTTCCTCTCGGGCATGACCGGAAAGGCCAAG___ACCCGGGAAAAGGAGAAGATGAAGGAAGCCAAGGATGCCCGCTATACCAATGGGCACCTCTTCACCACCATTTCAGTTTCAGGCATGACCATGTGCTATGCCTGTAACAAGAGCATCACAGCCAAGGAAGCCCTCATCTGCCCAA___CCTGCAATGTGACTATCCACAACCGCTGTAAAGACACCCTCGCCAACTGTACCAAGGTCAAGCAGAAG___CAACAGAAAGCGGCCCTGCTGAAGAACAACACCGCCTTGCAGTCCGTTTCTCTTCGAAGTAAGA___CAACCATCCGGGAGCGGCCAAGCTCGGCCATCTACCCCTCCGACAGCTTCCGGCAGTCCCTCCTGGGCTCCCGCCGTGGCCGCTCCTCCTTGTCTTTAGCCAAGAGTGTTTCTACCACCAACATTGCTGG___ACATTTCAATGATGAGTCTCCCCTGGGGCTGCGCCGGATCCTCTCACAGTCCACAGACTCCCTCAACATGCGGAACCGAACCCTATCCGTGGAATCCCTCATTGACGAAG___CAGAGGTAATCTACAGTGAGCTGATGAGTGACTTTGAGATGGATGAGAAGGACTTTGCAGCTGACTCTTGGAGTCTTGCTGTGGACAGCAGCTTCCTGCAGCAGCATAAAAAGGAGGTGATGAAGCAGCAAGATGTCATCTATG___AGCTAATCCAGACAGAGCTGCACCATGTGAGGACACTGAAGATCATGACCCGCCTCTTCCGCACGGGGATGCTGGAAGAGCTACACTTGGAGCCAGGAGTGGTCCAGGGCCTGTTCCCCTGCGTGGACGAGCTCAGTGACATCCATACACGCTTCCTCAGCCAGCTATTAGAACGCCGACGCCAGGCCCTGTGCCCTGGCAGCACCCGGAACTTTGTCATCCATCGCTTGGGTGATCTGCTCATCAGCCAG___TTCTCAGGTCCTAGTGCGGAGCAGATGTGTAAGACCTACTCGGAGTTCTGCAGCCGCCACAGCAAGGCCTTAAAGCTCTATAAGGAGCTGTACGCCCGAGACAAACGCTTCCAGCAATTCATCCGG___AAAGTGACCCGCCCCGCCGTGCTCAAGCGGCACGGGGTACAGGAGTGCATCCTGCTGGTGACTCAGCGCATCACCAAGTACCCGTTACTCATCAGCCGCATCCTGCAGCATTCCCACG___GGATCGAGGAGGAGCGCCAGGACCTGACCACAGCACTGGGGCTAGTGAAGGAGCTGCTGTCCAATGTGGACGAGGGTATTTATCAGCTGGAGAAAGGGGCCCGTCTGCAGGAGATCTACAACCGCATGGACCCTCGGGCCCAAACCCCAGTGCCTGGCAAGGGCCCCTTTGGCCGAGAGGAACTTCTGAGGCGCAAACTCATCCACGATGGCTGCCTGCTCTGGAAGACAGCGACGGGGCGCTTCAAAG___ATGTGCTAGTGCTGCTGATGACAGATGTACTGGTGTTTCTCCAGGAAAAGGACCAGAAGTACATCTTTCCTACCCTG___GACAAGCCTTCAGTGGTATCGCTGCAGAATCTAATCGTACGAGACATTGCCAACCAGGAGAAAGGGATGTTTCTGATCAGCGCAGCCCCACCTGAGATGTACGAGGTGCACACAGCATCCCGGGATGACCGGAGCACCTGGATCCGGGTCATTCAGCAGAGCGTGCGCAC___ATGCCCATCCAGGGAGGACTTCCCCCTGATTGAGACAGAGGATGAGGCTTACCTGCGGCGAATTAAGA___TGGAGTTGCAGCAGAAGGACCGGGCACTGGTGGAGCTGCTGCGAGAGAAGGTCGGGCTGTTTGCTGAGATGACCCATTTCCAGGCCGAAGAGGATGGTGGCAGTGGGATGGCCCTGCCCACCCTGCCCAGGGGCCTTTTCCGCTCTGAGTCCCTTGAGTCCCCTCGTGGCGAGCGGCTGCTGCAGGATGCCATCCGTGAGG___TGGAGGGTCTGAAAGACCTGCTGGTGGGGCCAGGAGTGGAACTGCTCTTGACACCCCGAGAGCCAGCCCTGCCCTTGGAACCAGACAGCGGTGGTAACACGAGTCCTGGGGTCACTGCCA___ATGGTGAGGCCAGAACCTTCAATGGCTCCATTGAACTCTGCAGAGCTGACTCAGACTCTAGCCAGAGG___GATCGAAATGGAAATCAGCTGAGATCACCGCAAGAG___GAGGCGTTACAGCGATTGGTCAATCTCTATGGACTTCTACATGGCCTACAG___GCAGCTGTGGCCCAGCAGGACACTCTGATGGAAGCCCGGTTCCCTGAGGGCCCTGAGCGGCGGGAGAAGCTGTGCCGAGCCAACTCTCGGGATGGGGAGGCTGGCAGGGCTGGGGCTGCCCCTGTGGCCCCTGAAAAGCAGGCCACGGAACTGGCATTACTGCAGCGGCAACATGCGCTGCTGCAGGAGGAGCTACGGCGCTGCCGGCGGCTAGGTGAAGAACGGGCAACCGAAGCTGGCAGCCTGGAGGCCCGGCTCCGGGAGAGTGAGCAGGCCCGGGCACTGCTGGAGCGTGAGGCCGAAGAGGCTCGAAGGCAGCTGGCCGCCCTGGGCCAGACCGAGCCACTCCCAGCTGAGGCCCCCTGGGCCCGCAGACCTGTGGATCCTCGGCGGCGCAGCCTCCCCGCAGGCGATGCCCTGTACTTGAGTTTCAACCCCCCACAG___CCCAGCCGAGGCACTGACCGCCTGGATCTACCTGTCACTACTCGCTCTGTCCATCGAAACTTTGAGGACCGAGAGAGGCAGGAACTGGGGAGCCCCGAAGAGCGGCTGCAAGACAGCAGTGACCCTGACACTGGCAGCGAGGAGGAAGGTAGCAGCCGTCTGTCTCCGCCCCACAGTCCACGAG___ACTTTACCAGAATGCAGGACATCCCGGAGGAGACGGAGAGCCGCGACGGGGAGGCTGTAGCCTCCGAGAGCTAAGGGGGCCCCTCCCCCCTGCCCCGTGCCCCACTGAAGAACATTACTGAGGGGGCTAACCTTGGGGACTCCAATTTGCCAATGATGAGGGAACATTTGAAAGAACTGCAAATTGTCCTTGCCAGCTCTTGGGATCCTTGGATACCTGGGGCCATTTAAGAAGCTAGGGGAATTAGGCCACAACACCCCCTGGGACATCCGAAAGCTACACCACAGATGCCAGTGGTTCATGCCTTCTTCCCGCAACTTTAGGAAAATTTATTTATTTATTGTTTATTAGTTATGGGGGGAGAGGGGAGATTTAAAGGACCAGGGACATGGGAACCAAGCCATAGGGATCAGAGGGCCTTGTCCTTGAACACTACTGGGGTATATTCAGGCTCATCCACGCAGCTGCTGGGTTCTTGCCCTAACGGCCCTCCCCTGCAACATCCGTCTTGGAGGAGAGGCTGCAGCCACAGCACCCTACTGCCCTTTAAATAAAGGAGGGCTGTGGGCAGGGCCATGTCCCTTTCTCCTCTCCCCTCAACCTCTTACTGCTGTTCTCCCTTTCTCCGTCCTTCATGGAAGCCCTGGGAGATAACCTGGCTTCCTGGAGTTGATGGAATAAAGGTTGGGGTGGCCATAATGGTTTGTTGGGGGTGAGGGAAAAAACCCACAGGGACCAGAATGTTTTGTTGTTCTTTTGTTTTCTTTTTTGTACCAAAGTCAACTGCACGTGTTTTATATTTTTAAGAGATCGTAGGCAATTAGAGATCGAAGCCTCCTATCTCCACATCTCTGAAGAAGTTGAGGGGTGGGGGAGAGAATGACTTCTGCCTTCATCTGCAGTAACGGGGGGACCTATACTGACCTCTTCCCCAGCCATTTAGAAACAAGTTCTAGGGTGGGTTGGAAAATCTCCAAGAGCCCTGACCTCATCTTCCACCTCAGCAACCATGACCTGAAACCTCAGCGTGAATTTGGGGGATTTTTCAGTGGAACCCTTGCCCCCAAATGTCGACCAGCCCCCAAATGTCGAAGAATTTTCTTCTTGCCAATTTTGTTGTTTAAAAAAAAAATTCAGGGAAAATTAAAAACCTGGAACTCC)$ . 18BR003 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 4 2 0 207 31 high . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000560197.5 upstream downstream . GTCACACTCCTGAATGTGGCAGGTCCGTGTCTGGACCGAGGAGCCCTCACATCGGTTGTTGAGGCTATCGCAGGAGCGGCCGCGCTGCTGAATTCCATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTG(TGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 18BR003 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 7 9 1 294 40 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream low_entropy(2),mismappers(1),mismatches(1) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCATCGACAGGGAAAACTTCGTGGACATTGTTGATGCCAAG___TTGAAGATTCCTGTCTCTGGATCCAAATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGGCCCCTTTCAGAG___GTGGCACCTTGACGAGGTCTTTTTAGAGCTCAAGGATGGTC)AGCAGATTCCTGTGTTCAAGCTCAGTGGGGAAAACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCATAGTGGACCTTTATTGTCTCCTGAGCACCCATTCTTTGTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCTCTTCCTCCAGAGTTGGAGCCTATGACACTGATGACACTGGCATGGAAAGCCAAAGCCCTAC . 18BR003 ENSG00000185630.19 ENSG00000201987.1(30210),ENSG00000225487.2(36776) +/+ ./+ chr1:164821626 chr1:164884542 CDS/splice-site intergenic deletion/read-through 1 10 0 353 19 medium stop-codon . Homeobox_domain(100%),PBC_domain(100%)| . . ENSG00000185630.19 . ENST00000367897.5 . downstream upstream duplicates(1) ^(ATGGACGAGCAGCCCAGGCTGATGCATTCCCATGCTGGGGTCGGGATGGCCGGACACCCCGGCCTGTCCCAGCACTTGCAGGATGGGGCCGGAGGGACCGAGGGGGAGGGCGGGAGGAAGCAGGACATTGGAGACATTTTACAGCAAATTATGACCATCACAGACCAGAGTTTGGATGAGGCGCAGGCCAG___AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTGTTGTGTGAAATCAAAGAAAAAACAG___TTTTGAGTATCCGAGGAGCCCAGGAGGAGGAACCCACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCTGAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGTTCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATCTACCATACGGAGCTGGAGAAATACGAGCAG___GCCTGCAACGAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATGGTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGCGAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG___GCGGAAGAGACGGAATTTCAACAAGCAAGCGACAGAAATCCTGAATGAATATTTCTATTCCCATCTCAGCAACCCTTACCCCAGTGAGGAAGCCAAAGAGGAGTTAGCCAAGAAGTGTGGCATCACAGTCTCCCAG___GTATCAAACTGGTTTGGAAATAAGCGAATCCGGTACAAGAAGAACATAGGTAAATTTCAAGAGGAAGCCAATATTTATGCTGCCAAAACAGCTGT)CACTGCTACCAATGTGTCAGCCCATGGAAGCCAAGCTAACTCGCCCTCAACTCCCAACTCGGCTG___GTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGT|GAAATTGCAAGAACCTATTGATGGCTTGGATGCTCTGGTGGTGACAGCAAGTCCTCTTCTCTTGACTGAAGAAATGTCTTCCCCTATCTGAAAAGTGGCCTCTCTTCCGGAATGACACATACTGACTTTTGAAGAAGCAAAAGGATACCTGCTGGCCAGTCATATCAGCCAAAAAACTCTGGTGAGCAGTGAGTTGGCAGATGTTGCAACTGGAAGACTGTGGCATCAACAGAGCCCCAAAGCAATAATCTCTCTTTCTCTTCGCCCCCACTAATCCAGCA . 18BR003 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39190166 3'UTR exon/splice-site deletion 0 2 1 377 4 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560743.1 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGA)CTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|GTTCTATTATTGGCCATGTCAATTGGAGCAACCATTTGGAAAGTCATTTGGCAACATCTCCCAAAGCTGAATATACATGAAGCCTAGGAGCCAGGAATTCCACTTCCAGGATATGCCCAATAGAAATGAATACATATGTTtAC(CAAAAGGCGTGTCCTAGAATGTTTATAATTGTGAACAGACCAAAGCTAGAAACTATCCAAGTGTCCATCAACAATGGAGTGGGAAATAAAATGTCTCTTCGTACAATGGAATCTACATAGCAATGAGAACAAAGAACTTACAAAAGTACACAGCAACATGGATGAAATTCACAAGCATAATTCCGAACAAAAAATGCCATGTACCAAAAAGCTTATAGCATATGACTCCATTTATGTACAGTAGAAAAACAGGCAAAACAGCTAGCCTGTTAGAAGTCAGAATGGTGGTTACCCTTTGAGGGGCTGTTCCTAGATGGGGACTCATGGGGTAATGTTCATTCCATGTCTTGAACTGTGCACTGATTACACTGGTGTGTTTAGCTTGTGAAATGTATCCACCTATACACTTATGTGGTTTTCTGTATGTACATTATATTTCAATAACATTTTAAGAAAGTGTTTTGCCACTTATTAGTTCATTTGACCCACACAACAGTTCTAGGAGATAAGAAGGCCAGGTAACTTTTCTTCAGATTTATAGAAAGAAAACAGACTCAAAGTTTGGTCCAAGGTCTCAGTGCTAATTGGTGGTGGAATCAGGTTAGGTATGTCAACCTCCTGGGCCAAGAAAGATAGTCTCTGTTGGAGCACCTTGCACAGTGCTTGATGCATAGTAGGTGCTCAATAAATTTCATCTGAAGCTGGATCATAGAATGGTGGCCTTCTAATCCCACAAGGCTGTTATCCTGCTGTGGGAGTAACCATCTTCTCTGGTGGTCTAATGTCCCTTATAGAATGTGCGTATTCTCTCCTAAGAGAAGAGTGGAGATGAGGCCTGAGTCAAATATCCTAAGAAGCTGCCAAAATACCTGTGGAGAATTGCATAACCTTGTCCCTCTAGGGCTTAGAAAAGAATGAGTCAGACAGTCAGTTCTCAGACACGGTGCCCAGGAAAACAGGAAGAAGGTTCACTTAGGCAGAAATCCATGTATGTGACCTTGGATACATCACTGAACTTCTTCAGGGGCAACAATTTGAAAGACACATTTGAGACACTCTGCCTAGGATGACGTGATCCTTCTGTAGCTGATCTTCTGAGACCCGTGAATTTTATGTACTATTTTCTAATTATATTCTCATTATTTTCAAGGGCATCAGACTGCATTTCAAACTTGACAATTCCTTTGCTATAATTTCAGCTCAAATTTTGACTAATTTATACTTTAAATACAAATATGCCCCATTTTCTGCTTGTCATCATAGTTCAGAAAGAAGTTATACCGACCATGTTATATAAAGTAATGAGGGGTCCTATTCAGCTTGTTAACCATGTTTCTTAAAAAAAAAAAGTACAATAGAACTTTCTTTGTCAATATAAAATTCGAGTTATTTATGATGTGGCTAAAGATATGATAAGAAGTCTCAGGAATGGAATCTGTTATTGCTTGGAAAATAAAATCTCAAGACCTTCTTTGGAAAAAAATGGAGAGTGATAAAATGCTTTCATTTAGGGCTTGGCTGTGATGTCAAGGTCAGCCAATGAGCTTAGAGGGAATCTGAGAAAAATAAAGAGAAAAATAGAAACA)$ . 18BR003 ENSG00000278621.1 ENSG00000259345.7 -/- -/- chr15:39588397 chr15:39071608 exon exon/splice-site deletion 2 0 0 101 31 medium . . . . . ENSG00000278621.1 ENSG00000259345.7 ENST00000616754.1 ENST00000560197.5 upstream downstream duplicates(1),mismappers(1) ^(CAGTGTAAGATATTATAGGGTATAGGGAACCGATAACTTGTTGGGATTATGTTGTCCACCTGCATCTTAGAGCAATCAAATCGCTCAGGACTAACCAAGCTGGAATCTCCTCGAATGCTGACTGCAGCATTCAGTAAAAGAGCAAAGCTCCTGGGTCGTTTCATCCTGGGCTGCGTGGCTCACCAATTGGACAGTCCTGCTTGTTGCAGATCTGGTTTTCTGTTACATCACCAACGCAGTCCTTGCCTCCAAACTGGGGTGTGGGGTTGTTGCAGAGACGACTACGTTTCTGTACCCCTCCTCCACAGGTGACAGAACAGA)TGTCCCATGGTGACCAAGGACCCCAGCCTCCATTGACTGTAAGAAGATGAAaaACAGGCAACAATTAAGATCAACTTTCAAATCCCTCCCTTGTCATAGACTCTCCTAAGCCCGTTCAAGAAACCTCTGCTTCTCTGACACATGGAAAGAATGCTGGGGAAGAGG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAG(CCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 18BR004 ENSG00000164756.12(10069),ENSG00000286308.1(78489) ENSG00000164756.12 ./- +/- chr8:117186783 chr8:117173488 intergenic 3'UTR deletion/read-through 63 40 1 142 128 high . . . . . . ENSG00000164756.12 . . upstream downstream duplicates(5),inconsistently_clipped(1),mismappers(2) CTCGGGCATCCTCAGACTCTTAGCTCTATCTCTCCCACTCAGGAAGACTGCCAGACTGTCTGCAGTTCCCTGCCCTGTGACACAGTCTGGACACTTTTTCAACACAATAAACTAGGGAAATTATTGGGCTCACTATTTTGTTACCTGACTCCTGGAAATAACTGTCCTTCATTGACTGACATTCAATGTCTTGAGGGCCATCCCTTCATTGATTTTGTCCACGTTTTATTTGTTCGACATGAAG|GTAAATATCTAAATTATCTGTGGCAACAACTTGGTGGGGTCAACTCGAATGTTTTTGTCGGCTGTTCTTGAAGACTTCTGGGTCTCTACAACCACATTCTTTGGCTGGTGCCAGTGTTTAAGCACTCTG___AAACTGCATAGCAGCATGTTTGAAGGTGGCCTGTCAAATTTGGGAAACTGACGGTGTGACTGAGCTAGTCACAGGGGTCTTCACAGAAAAGGCAGTCGGGGTCCTGGTCAACTGGAGATTCCATCTGAATG . 18BR004 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 6 10 0 42 28 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream low_entropy(1),mismatches(4) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATA)CTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCgAG___CTGAAATAACAGGAtgCACATGAAAAATGgCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAG?AGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNgTIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGI?EGAAHSQICP|gysfrrrtlqmegmqes* 18BR004 ENSG00000173064.13 ENSG00000205323.9 -/- -/- chr12:112306064 chr12:55760640 CDS/splice-site CDS/splice-site deletion 8 2 0 19 321 high in-frame . . . . ENSG00000173064.13 ENSG00000205323.9 ENST00000377560.9 ENST00000336133.8 upstream downstream duplicates(1) ^(ATGCCGGGAGCCCCGCCCCCAACATGGCGTCTCACTGACAGTTGGTTGCCGAGCGGCAGAGGCGGATCCTGCTCCTGAGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGGGCCGGGGTCTCCCGGGCCGGGGTCGGGGGTATGGCGACTCGGACCGCCTAGGGCGGAGTTGCACGGGCGAGGCAGCAAGTGGGGCGCCGCTGGCGGGCGCGGCGGCCGCTGCCATGGACTGGTGATCGCGGCGGCTCCTGCTCCGTTTCCCCCGGCCGGGCGTCTGCTCCTCAGCGCCAAGCCTTCAGCCGGGGCCATGGGCTCGTCGGCGGCCGCGGCGGCGGCGGCGGCGGCGGCCGCTGACTCGGCGCAGTGGCTCTCGGTGAAGGAAGAGACCATCTTCCTGCACGACGGGCTGATCCGGGTCACCGACCTGGCCGAGCTGCCCAGCGAGATCCTCGGGGCCCCAGAGGCCGCGGACACCGACCTGGAG___ATTTTAACCTTTGAGACCAAGAACCCGTCGGAATTAGCAGAACGTTTGCGCTCTGTTTGTGGGAATCAGAGCAATGCCTATGCCCGGCTGCTGGAATACCGCCTGAATGCCTTGCGAGGACTGTGGAATGCCCAGCGCCAGCTGGCCTTAGAAGAACAGCATGAAAGGGAAAGTTCAGGTGATGAGGAAACTTTGGCCCTGCTCAAACGCCAGGGCTTGTTGCAGCAACCTGAGCAAGCGCCCTTCACATCGAGGATGGGGCTCCTGCTGGTCTTCCCCCTTATTCAGTCCCAGAGTAGAACAGACCCCTCTCTCTGTAACATAACTGCTGAGGTGCTATTGAACTGCCTTCGTGACTGCCAGCCTTTGAGCTTGACCAAGGAGCCTGCTGACTGTCTCAATGGAATTGAAACTTTGCTGTGCTCTTGGCTAGAGGAGACTTCTGACACAGGCCGACACATCCCACATAAGCAAAAAGAAAATGCTGCTGCTGCCCTGGTGGCTTTGGCTTGTGCCAG___GGGATCATTGAAAACTTTCGTCCACACAGTCCATCTATTACAGAAACAGACGGATCTAGGGTCCCTGCCTGTAGCTGATGTGCTATATAG___GCTGTTGCTTTTGGAAGGGGGGCCTGGATCTCCCTCCTGTTTGCTTGGGGGCAAACACATAGTATCATGGGGTTATGAAGACATGTTGCCTGCGCCGGATAGCAACACTGGCTCCAGTTCTGAAAATAAAG___ATGCTGACTTGGGACGCTGTCTCACGGCAGATGGTCTTTACCTGTATACTACTAACTCAGTTGGAAGAGGAGTAAGCAAATTGGGATCTGGATTACATGGTACTCTCAG___AGGTTTTGTGTACTGCCGGAACGAGGAGTTGGAACCAGGATGGGTGGCTTTTGGCAGCGGCAGTCTTCTCCACCGGCCTGTCTCTTTCGATAATAAACCTCACTCCCTTTTCCAGGT)CATTGACCAGAACACCCTTCAG___GTGTGCCAGGTGGTGCCAATGCCAGCCAATCACCTCCCCATTGGCAGCACCATGAGCACTGTGCACCTGTCTTCAGATGGCACTTACTTCTATTGGATCTGGTCTCCTGCCAGCCTGAATGAGAAAACACCGAAGGGACATTCTGTCTTCATGGACATTTTTGAACTTGTG|TCTGAAGATGATGAGAAACTGAAAAAGAGGAAGGAGCGATTTGGGATTGTCACAAGTTCAGCTGGAACTGGAACCACAGAGGATACAGAG___GCAAAGAAGAGGAAAAGAGCAGcGCGCTTTGGGATTGCCTGATGAAAAGTTCCTGATACTTTCTGTTCTCCAGTGTTTTCCATTTCTCTCCTTCTTCTTGGTCACATATATGCCTAAAT(GCACAGTCATGTGCCTACGTCCTGCCTCGCAATGAGGGAGCATGTACCCCAGGTACATCCATGAACTGCGGCAGCAGTTTGACTTATTGCTGTTTCAGCTTTAAGGTTGTTGTGTTTTTGTTTTTGATTATGTTGCTTGTTAATAAAAAAAAATAGAAAAGAGAA)$ MGSSAAAAAAAAAAADSAQWLSVKEETIFLHDGLIRVTDLAELPSEILGAPEAADTDLEILTFETKNPSELAERLRSVCGNQSNAYARLLEYRLNALRGLWNAQRQLALEEQHERESSGDEETLALLKRQGLLQQPEQAPFTSRMGLLLVFPLIQSQSRTDPSLCNITAEVLLNCLRDCQPLSLTKEPADCLNGIETLLCSWLEETSDTGRHIPHKQKENAAAALVALACARGSLKTFVHTVHLLQKQTDLGSLPVADVLYRLLLLEGGPGSPSCLLGGKHIVSWGYEDMLPAPDSNTGSSSENKDADLGRCLTADGLYLYTTNSVGRGVSKLGSGLHGTLRGFVYCRNEELEPGWVAFGSGSLLHRPVSFDNKPHSLFQVIDQNTLQVCQVVPMPANHLPIGSTMSTVHLSSDGTYFYWIWSPASLNEKTPKGHSVFMDIFELV|SEDDEKLKKRKERFGIVTSSAGTGTTEDTEAKKRKRAaRFGIA* 18BR004 ENSG00000173064.13 ENSG00000257390.5 -/- -/- chr12:112306064 chr12:55760640 CDS/splice-site CDS/splice-site deletion 8 2 0 19 321 high out-of-frame . . . . ENSG00000173064.13 ENSG00000257390.5 ENST00000377560.9 ENST00000546837.5 upstream downstream duplicates(1) ^(ATGCCGGGAGCCCCGCCCCCAACATGGCGTCTCACTGACAGTTGGTTGCCGAGCGGCAGAGGCGGATCCTGCTCCTGAGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGGGCCGGGGTCTCCCGGGCCGGGGTCGGGGGTATGGCGACTCGGACCGCCTAGGGCGGAGTTGCACGGGCGAGGCAGCAAGTGGGGCGCCGCTGGCGGGCGCGGCGGCCGCTGCCATGGACTGGTGATCGCGGCGGCTCCTGCTCCGTTTCCCCCGGCCGGGCGTCTGCTCCTCAGCGCCAAGCCTTCAGCCGGGGCCATGGGCTCGTCGGCGGCCGCGGCGGCGGCGGCGGCGGCGGCCGCTGACTCGGCGCAGTGGCTCTCGGTGAAGGAAGAGACCATCTTCCTGCACGACGGGCTGATCCGGGTCACCGACCTGGCCGAGCTGCCCAGCGAGATCCTCGGGGCCCCAGAGGCCGCGGACACCGACCTGGAG___ATTTTAACCTTTGAGACCAAGAACCCGTCGGAATTAGCAGAACGTTTGCGCTCTGTTTGTGGGAATCAGAGCAATGCCTATGCCCGGCTGCTGGAATACCGCCTGAATGCCTTGCGAGGACTGTGGAATGCCCAGCGCCAGCTGGCCTTAGAAGAACAGCATGAAAGGGAAAGTTCAGGTGATGAGGAAACTTTGGCCCTGCTCAAACGCCAGGGCTTGTTGCAGCAACCTGAGCAAGCGCCCTTCACATCGAGGATGGGGCTCCTGCTGGTCTTCCCCCTTATTCAGTCCCAGAGTAGAACAGACCCCTCTCTCTGTAACATAACTGCTGAGGTGCTATTGAACTGCCTTCGTGACTGCCAGCCTTTGAGCTTGACCAAGGAGCCTGCTGACTGTCTCAATGGAATTGAAACTTTGCTGTGCTCTTGGCTAGAGGAGACTTCTGACACAGGCCGACACATCCCACATAAGCAAAAAGAAAATGCTGCTGCTGCCCTGGTGGCTTTGGCTTGTGCCAG___GGGATCATTGAAAACTTTCGTCCACACAGTCCATCTATTACAGAAACAGACGGATCTAGGGTCCCTGCCTGTAGCTGATGTGCTATATAG___GCTGTTGCTTTTGGAAGGGGGGCCTGGATCTCCCTCCTGTTTGCTTGGGGGCAAACACATAGTATCATGGGGTTATGAAGACATGTTGCCTGCGCCGGATAGCAACACTGGCTCCAGTTCTGAAAATAAAG___ATGCTGACTTGGGACGCTGTCTCACGGCAGATGGTCTTTACCTGTATACTACTAACTCAGTTGGAAGAGGAGTAAGCAAATTGGGATCTGGATTACATGGTACTCTCAG___AGGTTTTGTGTACTGCCGGAACGAGGAGTTGGAACCAGGATGGGTGGCTTTTGGCAGCGGCAGTCTTCTCCACCGGCCTGTCTCTTTCGATAATAAACCTCACTCCCTTTTCCAGGT)CATTGACCAGAACACCCTTCAG___GTGTGCCAGGTGGTGCCAATGCCAGCCAATCACCTCCCCATTGGCAGCACCATGAGCACTGTGCACCTGTCTTCAGATGGCACTTACTTCTATTGGATCTGGTCTCCTGCCAGCCTGAATGAGAAAACACCGAAGGGACATTCTGTCTTCATGGACATTTTTGAACTTGTG|TCTGAAGATGATGAGAAACTGAAAAAGAGGAAGGAGCGATTTGGGATTGTCACAAGTTCAGCTGGAACTGGAACCACAGAGGATACAGAG___GCAAAGAAGAGGAAAAGAGCAGcGCGCTTTGGGATTGCCTGATGAAAAGTTCCTGATACTTTCTGTTCTCCAGTGTTTTCCATTTCTCTCCTTCTTCTTGGTCACATATATGCCTAAAT(GCACAGTCATGTGCCTACGTCCTGCCTCGCAATGAGGGAGCATGTACCCCAGGTACATCCATGAACTGCGGCAGCAGTTTGACTTATTGCTGTTTCAGCTTTAAGGTTGTTGTGTTTTTGTTTTTGATTATGTTGCTTGTTAATAAAAAAAAATAGAAAA)$ MGSSAAAAAAAAAAADSAQWLSVKEETIFLHDGLIRVTDLAELPSEILGAPEAADTDLEILTFETKNPSELAERLRSVCGNQSNAYARLLEYRLNALRGLWNAQRQLALEEQHERESSGDEETLALLKRQGLLQQPEQAPFTSRMGLLLVFPLIQSQSRTDPSLCNITAEVLLNCLRDCQPLSLTKEPADCLNGIETLLCSWLEETSDTGRHIPHKQKENAAAALVALACARGSLKTFVHTVHLLQKQTDLGSLPVADVLYRLLLLEGGPGSPSCLLGGKHIVSWGYEDMLPAPDSNTGSSSENKDADLGRCLTADGLYLYTTNSVGRGVSKLGSGLHGTLRGFVYCRNEELEPGWVAFGSGSLLHRPVSFDNKPHSLFQVIDQNTLQVCQVVPMPANHLPIGSTMSTVHLSSDGTYFYWIWSPASLNEKTPKGHSVFMDIFELV|seddeklkkrkerfgivtssagtgttedteakkrkraarfgia* 18BR004 ENSG00000160973.8(2278),ENSG00000160972.9(11903) ENSG00000160972.9 ./+ +/+ chr8:144478127 chr8:144490034 intergenic 5'UTR deletion/read-through 15 16 0 39 60 medium . . |Ankyrin_repeats_(3_copies)(100%) . . . ENSG00000160972.9 . ENST00000292539.8 downstream upstream duplicates(2) CGCGGGCCGGAAGTGTAGCGTTGCCATGGCGAGGGCCGGGTGCGGGGCCCGCCCCCGCAGCGCCTCAGGGAGCGCGGGGCCCACTGACCCGCGGAAGCCAGCGGACCCACTTGTGCGGCGGTCGGCGCGGGGCGCaAG|GTACTGGCACACGGATGAGGAGTCGTAGAAGAGGGGCCTGCAGATTGTGCTCTCAGCAAGCCTGTCGTCTAGTGGAAGACACTGGCCGGGACACAGAGCCCACGTGTGGACACCGCTGTGGGTTGGTGGCAGGGGTCGAGCAGGTGCCATCAGGCACATGAACGGTGGAGTCTTCAAAG___GTGTG(AGCAGCTGCTGGAAGAGGAGGTGCTCCTGAAGACACTGCGGCCGGCCCGCCTGTGCCCTTGGTGCCCTGGCTGCCTAGAGAGCCTCACCCCTGGGCCCTGGGGCCAGGACTCCAGGACTCTGACTACCTGCCCTCCCCCAGCCTCAGCGGCTGCACCTCCTCGTTAGTACTGATGCACTGACCTCGGCACACAGCTGGGAGGGGTTGGGGGCTGGGTCATGGCTGCTCCCAGGCCCCACCCAGGCTCCTGAGCCTAGAAGGTGAAAAGAGGACTCTCAGGGGCTCACAGGGGCTCTCACTGCTGGTTGGCCCTGCCCTCCCTTCCCCCTCAGCAGGGTGCCCGGAAGCTGGAACCTTGTTATCTGGGTAATTAGTTTCAGACCCTGCACTGAGGCCGGCCAGGTCTCGGGGCTGCCTCCCATAGGTTGTGCACCCTGACCCCGAGAGGGAGGCGAGGCGCTGCTTGTCGACAGCTAGAGGCTGGCCTGGGGAGCAGGTTTGGGGTGCCCTCCCACACTGCCCTCCCTGCCCCGGCCCATGCCCCCCAGGGCTGCCTGGGCCTGGTTATTGTGTGGGGCCTCCTGACCCAGCCAAGGGCACGAAGCTCTGGGAAGGGGATGCCCCCGAGGGTGCCAGTCCAGCTAGCTGCCCCACCCCTCAGGCCCAGCCTGGCCCCCAAGCTCCCCACTCTGGTGCCCCGAGCAGCCCTGTGGGCAAGCAGCCGCCGCCATGGCCGAGCACCTGGAGCTGCTGGCAGAGATGCCCATGGTGGGCAGGATGAGCACACAGGAGCGGCTGAAGCATGCCCAGAAGCGGCGCGCCCAGCAGGTGAAGATGTGGGCCCAGGCTGAGAAGGAGGCCCAGGGCAAGAAGGGTCCTGGGGAGCGTCCCCGGAAGGAGGCAGCCAGCCAAGGGCTCCTGAAGCAGGTCCTCTTCCCTCCCAGTGTTGTCCTTCTGGAGGCCGCTGCCCGAAATGACCTGGAAGAAG___TCCGCCAGTTCCTTGGGAGTGGGGTCAGCCCTGACTTGGCCAACGAGGACGGCCTGACGGCCCTGCACCAG___TGCTGCATTGATGATTTCCGAGAGATGGTGCAGCAGCTCCTGGAGGCTGGGGCCAACATCAATGCCTGTGACAGTGAGTGCTGGACGCCTCTGCATGCTGCGGCCACCTGCGGCCACCTGCACCTGGTGGAGCTGCTCATCGCCAG___TGGCGCCAATCTCCTGGCGGTCAACACCGACGGGAACATGCCCTATGACCTGTGTGATGATGAGCAGACGCTGGACTGCCTGGAGACTGCCATGGCCGACCGTG___GCATCACCCAGGACAGCATCGAGGCCGCCCGGGCCGTGCCAGAACTGCGCATGCTGGACGACATCCGGAGCCGGCTGCAGGCCGGGGCAGACCTCCATGCCCCCCTGGACCACGGGGCCACGCTG___CTGCACGTCGCAGCCGCCAACGGGTTCAGCGAGGCGGCTGCCCTGCTGCTGGAACACCGAGCCAGCCTGAGCGCTAAGGACCAAGACGGCTGGGAGCCGCTGCACGCCGCGGCCTACTGGGGCCAG___GTGCCCCTGGTGGAGCTGCTCGTGGCGCACGGGGCCGACCTGAACGCAAAGTCCCTGATGGACGAGACGCCCCTTG___ATGTGTGCGGGGACGAGGAGGTGCGGGCCAAGCTGCTGGAGCTGAAGCACAAGCACGACGCCCTCCTGCGCGCCCAGAGCCGCCAGCGCTCCTTGCTGCGCCGCCGCACCTCCAGCGCCGGCAGCCGCGG___GAAGGTGGTGAGGCGGGTGAGCCTAACCCAGCGCACCGACCTGTACCGCAAGCAGCACGCCCAGGAGGCCATCGTGTGGCAACAGCCGCCGCCCACCAGCCCGGAGCCGCCCGAGGACAACGATGACCGCCAGACAGGCGCAGAGCTCAGGCCGCCGCCCCCGGAG___GAGGACAACCCCGAAGTGGTCAGGCCGCACAATGGCCGAGTAGGGGGCTCCCCAGTGCGGCATCTATACTCCAAGCGACTAGACCGGAGTGTCTCCTACCAGCTGAGCCCCCTGGACAGCACCACCCCCCACACCCTGGTCCACGACAAGGCCCACCACACCCTGGCTGACCTGAAGCGCCAGCGAGCTGCTGCCAAGCTGCAGCGACCCCCACCTGAGGGGCCCGAGAGCCCTGAGACAGCTGAGCCTGGCCTGCCTGGTGACACGGTGACCCCCCAGCCTGACTGTGGCTTCAGGGCAGGCGGGGACCCACCCCTGCTCAAGCTCACAGCCCCGGCGGTGGAGGCTCCCGTGGAGAGGAGGCCGTGCTGCCTGCTCATGTGAGGCTGTTGCTCAGCATGCAGGGGCCCTGTCGCGGGCACAGCCCAAGGCTGCCTCCCCACGGTGCGTGCCCTGGTGCTGCGGGTGCAGCACGGAAACCCCGGCTTCTACTGTACAGGACACTGGCCCCTCTCAGGTCAGAAGACATGCCTGGAGGGATGTCTGGCTGCAAAGACTATTTTTATCCTGCAACTCTTGATAAAGGGCTGTTTTGCCATGGA)$ . 18BR004 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 6 5 0 169 26 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream low_entropy(1),mismatches(1) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCATCGACAGGGAAA)ACTTCGTGGACATTGTTGATGCCAAG___TTGAAGATTCCTGTCTCTGGATCCAAATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGGCCCCTTTCAGAG___GTGGCACCTTGACGAGGTCTTTTTAGAGCTCAAGGATGGTCAGCAGATTCCTGTGTTCAAGCTCAGTGGGGAAAACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCAcAGTGGACCTTTATTGTCTCCTGAGCACCCATTCTTTGTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCTCTTCCTCCAGAGTTGGAGCCTATGACACTGATGACACTGGCATGGAAAGCCAAAGCCC . 18BR004 ENSG00000188735.13 ENSG00000151062.15 +/+ -/- chr12:121712964 chr12:1860206 CDS/splice-site CDS/splice-site inversion 0 3 0 12 7 medium in-frame . |Neuronal_voltage-dependent_calcium_channel_alpha_2acd(100%) . . ENSG00000188735.13 ENSG00000151062.15 ENST00000449592.7 ENST00000382722.10 downstream downstream . ^(AGTTGCGCGCGTGGCTCTGGCTGCGCAGGAACAGCTGGTGCCTCCGAGGGCGGTCGGCGAGCGCGCGGGCGTGGGGCGCTGGGGGGCCGGTCGGGCAGCGCTGCGGGAGCAGCCGCCGGCACCGCCGCCTTGC)ACCATCGCATCATGTCCGGGCAGCTGGAGCGTTGCGAGCGCGAATGGCACGAGCTGGAGGGAGAATTTCAAGAACTGCAG|AAGCGAGTTCTTTTCCTGACCAATGACTACTTCTTCACGGACATCAGCGACACCCCTTTCAG___TTTGGGGGTGGTGCTGTCCCGGGGCCACGGAGAATACATCCTTCTGGGGAACACGTCTGTGGAAGAAG___GCCTGCATGACTTGCTTCACCCAGACCTGGCCCTGGCCGGTGACTG___GATCTACTGCATCACAGATATTGACCCAGACCACCGGAAGCTCAGCCAG(CTAGAGGCCATGATCCGCTTCCTCACCAGGAAGGACCCAGACCTGGAGT___GTGACGAGGAGCTGGTCCGGGAGGTGCTGTTTGACGCGGTGGTGACAGCCCCCATGGAAGCCTACTGGACAGCGCTGGCCCTCAACATGTCCGA___GGAGTCTGAACACGTGGTGGACATGGCCTTCCTGGGCACCCGGGCTGGCCTCCTGAGAAGCAGCTTGTTCGTGGGCTCCGAGAAGGTCTCCGACAG___GAAGTTCCTGACACCTGAGGACGAGGCCAGCGTGTTCACCCTGGACCGCTTCCCGCTGTGGTACCGCCAGGCCTCAGAGCATCCTGCTGGCAGCTTCGTCTTCAACCTCCGCTGGGCAGAAGGACCAG___AAAGTGCGGGTGAACCCATGGTGGTGACGGCAAGCACAGCTGTGGCGGTGACCGTGGACAAGAGGACAGCCATTGCTGCAG___CCGCGGGCGTCCAAATGAAGCTGGAATTCCTCCAGCGCAAATTCTGGGCGGCAACGCGGCAG___TGCAGCACTGTGGATGGGCCGTGCACACAGAGCTGCGAGGACAGT___GATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAG___ACGGGAAGATTTCTGGGGGAGGTGGATGGTGCTGTCCTGACCCAGCTGCTCAGCATGGGGGTGTTCAGCCA___AGTGACTATGTATGACTATCAGGCCATGTGCAAACCCTCGAGTCACCACCACAGTGCAGCCCAGCCCCTGGTCAGC___CCAATTTCTGCCTTCTTGACGGCGACCAGGTGGCTGCTGCAGGAGCTGGTGCT___GTTCCTGCTGGAGTGGAGTGTCTGGGGCTCCTGGTACGACAGAGGGGCCGAGG___CCAAAAGTGTCTTCCATCACT___CCCACAAACACAAGAAGCAGGACCCGCTGCAGCCCTGCGACACGGAGTACCCCGTGTTCGTGTACCAGCCGGCCATCCGGGAGGCCAACGGGATCGTGGAGTGCGGGCCCTGCCAGAA___GGTATTTGTGGTGCAGCAGATTCCCAACAGTAACCTCCTCCTCCTGGTGACAGACCCCACCTGTGACTGCAGCATCTTCCCACCAGTGCTGCAGGAGGCGACAGAAGTCAAAT___ATAATGCCTCTGTCAAATGTGACCGGATGCGCTCCCAGAAGCTCCGCCGGCGACCAGACTCCTGCCACGCCTTCCATCCAGAG___GAGAATGCCCAGGACTGCGGCGGCGCCTCGGACACCTCAGCCTCGCCGCCCCTACTCCTGCTGCCTGTGTGTGCCTGGGGGCTACTGCCCCAACTCCTGCGGTGACACCACCCAGCCTGACCTGTGTTTTGGCAAGGTGATCCTTCCAGAGCCATCCCAAAAAGTCAGCACTGACATGGGATGCAGCTAACTGCAGTTGGGTCGCCCCCAGGCCAACGCTCCTCTCAATCCTGGGCTGGTGGCCCCTGGCTCCGGAGAATGCTGGATGGAACAGGAAACCAATCACCTGGCACCACTTTCAAGATGCTTCATGGTGCCCGGTACCATCTGCCCTAGGTCTCAACATGAGCATACTTCTGACCTAACCTTCCTGTCTCCTCTTCGGGAAGCCAGCGTGAGCTCAGCTTGGACCAAGACAAAATAATTTAGTTCTTCCTGTACTCCAGAGTCCAGACCCAGCCAAGAAAGGGTCAGTTGTTTCTGACCCTTTCTGTCGGAGTGGTCTCTGGTAGAACCCAAGGACTTCTGGGTACTGAGAAGCAGCAGCAGAATGAGGCCAAATGCAGAGATGAGGCTAAGGCAAGAATATGCCCCAACTAAAGCATAGATTCCCCAAAGTGAGGCTCATGGTGGGAGGCCACTCACCTTCCTAGCTGCTGCTCGAAAAGGTTTTGACTGTGTTGGGGTGGGGGTTGGGTAAGGGAATGGTCAAGACTGAGAAAGGAATGAAATCCATTCAGGAAATATCGACAGGGCTACACGTGATGTCCCCAAACTGCTGCTATTGAAGAACTTCCCAAAACTTCTTTACAAAGCCCTAAAGGAAAGTTTGCATCTATGAAAAGCCAATAGGCTGAGACATCCAATTGCTGCATGGAAATTGATGTACATTCAGGGGACGGCAAAAATAGCTGTAAAATAGTGAAAAAGAGCAGTGGTTGTGCTCTTTTCTGGCCAATGATTTACAAAAGAATCTACTTGACTCTGTCCCTGGAGTGAAATCCTTAGGGTTGGAACTTGTGGGAACATTCCAACTTGCTAAGCAGGGTCCACTGGGAGGGAAGCTCTATCTGGGAACTCACCCCCAGCGCACACACATCTCCCCCAGGGTCCCAAGGCCCCGCAGCTTCCTCCCCCGACCAAACCCCAAGACCTGGATCCCAGGAGACAACAGTCTCCACAGTGAGAGCAACATTAAGGGCAAAGCCATGGAGAAATGTGGGAGAGGCCGGCCTCAAATCTTTCCATTTAACAAACCCCAGTGATGGGTATGGACAGCATGCAGGGCTTTTGGGGCGCTTCCCCCCGCTCCTCCATCACCCTCAGCCTCCACACTTCAAAGTTCAAGTTCAAAGCTGTTCAAGTTTCCTACCAGCAAATAGCCCTAACTTGCCTCTAGAGTAGGCCAAATGCCAACTCTGTAAAACACACTTACATTATCGGTTACAGAATGTCACTCTTACCGTCATGTCTTGCAACAACCCTGTGAGGGCAGTATTAATGCCCCCTTACAGCAGAAGACACTGCAGCTCGAAGACAGCTTAAGTGGCAGAATAATGCTAGAACAGCTAAGGTTTACATGTACCAAATAACATGTTTCAGCTCATTCCATCCTCACAACAGCCCCCTGAAAGTGGGTACTATCATTAGTCCCATGTTATAGAAACTGCAGCAGAGTTGAAAATTGCCTCCAAATTACCGGAAGAGTGTATGAAGATTGAATGTGATGTATTCACGTAACATGCTTGAAACTGCCTGGCATATACTAAACGCTAAATAAATACATGCTAACTGCGA)$ MSGQLERCEREWHELEGEFQELQ|KRVLFLTNDYFFTDISDTPFSLGVVLSRGHGEYILLGNTSVEEGLHDLLHPDLALAGDWIYCITDIDPDHRKLSQLEAMIRFLTRKDPDLECDEELVREVLFDAVVTAPMEAYWTALALNMSEESEHVVDMAFLGTRAGLLRSSLFVGSEKVSDRKFLTPEDEASVFTLDRFPLWYRQASEHPAGSFVFNLRWAEGPESAGEPMVVTASTAVAVTVDKRTAIAAAAGVQMKLEFLQRKFWAATRQCSTVDGPCTQSCEDSDLDCFVIDNNGFILISKRSRETGRFLGEVDGAVLTQLLSMGVFSQVTMYDYQAMCKPSSHHHSAAQPLVSPISAFLTATRWLLQELVLFLLEWSVWGSWYDRGAEAKSVFHHSHKHKKQDPLQPCDTEYPVFVYQPAIREANGIVECGPCQKVFVVQQIPNSNLLLLVTDPTCDCSIFPPVLQEATEVKYNASVKCDRMRSQKLRRRPDSCHAFHPEENAQDCGGASDTSASPPLLLLPVCAWGLLPQLLR* 18BR004 ENSG00000111785.21 ENSG00000199245.1(7680),ENSG00000049130.16(54563) +/+ ./+ chr12:106887175 chr12:88438230 3'UTR intergenic duplication 1 2 0 57 4 medium stop-codon . Guanine_nucleotide_exchange_factor_synembryn(100%)| . . ENSG00000111785.21 . ENST00000392837.9 . downstream upstream . ^(GCGTTTACCTGGAGGCAGCGGCTTGGGCGCGCAGAGCGGCCGCGGCTCCCCCGCACCTGCGGCCATGGATGAGGAGCGCGCCCTCTACATCGTCCGGGCCGGCGAAGCAGGGGCTATCGAGCGGGTCCTGAGGGATTACAGCGACAAG___CATAGGGCTACTTTCAAATTTGAATCAACAGATGAAGATAAAAGAAAG___AAACTCTGTGAAGGCATATTTAAAGTCCTTATAAAGGACATCCCAACAACATGTCAAGTGTCCTGCCTGGAAGTACTCCGCATTCTCTCCAGAGACAAAAAGGTTTTAGTTCCTGTGACAACTAAGGAAAATATGCAGATACTGCTGCGACTAGCCAAGCTAAATGAGTTAGATGATTCTTTGGAGAAAGTATCAGAGTTCCCAGTTATTGTGGAGTCATTAAAATGTCTGTGTAATATAGTGTTCAACAGTCAGATGGCACAGCAGCTCAGCCTGGAACTTAATCTTGCTGCAAAGCTCTGTAACCTCCTGAGAAAGTGCAAGGACCGGAAATTTATCAATGACATTAAGTGCTTTGACTTGCGCTTGCTCTTCCTTCTGTCACTTTTGCACACCGACATCAGGTCACAATTGCGCTATGAGCTCCAGGGACTACCGCTGCTAACGCAGATCTTGGAAAGTGCCTTTAGCATCAAGTGGACCGATGAGTATGAATCGGCCATAGACCATAATGGACCTCCTCTCTCACCTCAGGAGACAGACTGTGCCATTGAGGCCCTCAAAGCTCTCTTCAATGTGACGGTAGACAGTTGGAAGGTGCATAAAGAG___AGTGATTCTCATCAGTTCCGTGTAATGGCAGCTGTCCTTCGTCATTGTTTACTAATCGTAGGTCCAACTGAAGACAAAACAGAAGAGCTACACAG___CAATGCAGTCAACCTTTTAAGCAATGTTCCAGTCTCTTGTTTGGATGTTCTCATTTGTCCGTTAACCCATGAAGAAACAGCCCAAGAGGCAACGACTCTAGATGAACTGCCCAGTAATAAAACAGCTGAGAAAGAAACAGTTTTGAAAAACAATACCATGGTATACAATGGTATGAATATGGAGGCCATTCATGTTTTACTGAATTTTATGGAGAAGAGAATAGACAAG___GGAAGCAGCTATAGAGAGGGTCTAACTCCAGTTCTCAGCTTATTAACCGAATGTTCCCGAGCCCATCGAAACATCCGAAAATTTCTCAAAGATCAG___GTTTTACCACCGTTGAGGGATGTGACAAATCGACCTGAAGTTGGCTCAACTGTGAGAAATAAGCTGGTGCGCCTCATGACACATGTTGACCTTGGAGTCAAGCAAATTGCTGCTGAATTCCTTTTTGTCCTTTGCAAAGAGAGAG___TGGATAGTCTGCTGAAATACACTGGCTATGGGAATGCTGCAGGACTGTTGGCGGCCAGGGGCCTCTTGGCTGGAGGAAGAGGAGATAATTGGTACTCAGAGGATGAGGACACAGACACTGAAGAATACAAAAATGCAAAACCAAA___CATTAATCTTATCACTGGTCATTTAGAGGAACCAATGCCAAACCCCATAGATGAAATGACAGAAGAACAAAAAGAATATGAAGCCATGAAACTTGTCAACATGCTTGATAAACTTTCCAG___AGAGGAGTTGCTTAAACCAATGGGACTAAAACCTGATGGGACAATAACGCCTTTGGAGGAAGCACTCAACCAGTACTCTGTCATCGAAGAGACCAGCTCTGACACAGACTAAAAGCATCACCTGCTCAACTCTCAATATTGCTTTATCAGCATCTTTTCTCTGTAGCTCCAGGGGAATCTTTTCTCTAAAACATTTATGCCCTTGCTTTGGCTAGAAACACATTAACTGGTTTACTCATTGAGAATCCAGCATATTTAAGAGGTGACCCTGTGTTTTTTGTGATATTGAGGCATTCATACAGAGCTGCAGTTAGACGGGGTTACGGGGGCTAAAAGCAGAAAAAAAATTCCATTTCATCGGGATGGAACTGAAGGATTTTATTCTATAAAGCGGCCCTGGTTGAATCTGGCAATTCTTTTTGCCAAGATCCCTAGCAGAAGATTTAGCCATGTCCTTCCCCTCACTTGTGTGAGTGGCCCCTTCTGAATCTCTCCAGCAGCCAGAGGCACGTGAGAAGCAGAAAGAGCTGGTAAATAAAGCCTTGGGCAAGCGACTTCTTAGATCAGAACTCACCAAATGGAAGCCTAGCAGCTGCTCCATAAACCTAGCCCCATTCTTCATATCAATTTTGTATAAATATATAGAAACACACACACAGCCTCAGACTTACAAACTGATTATACTCTAAAAGTTTGTATGTCAGTTAGCTAAAACTTCAGAATACATTTCTCCCTATAAAGAGTTATAAATGATGGTTTAGTTCTCAGGCAGCTACAAATGCCTATTTATTCCCTAATGTACCTGAACACTAGTACCATAGAACTGAACCACCATCTGTATCAGCGCATGGGGAGTGTGCATTCTGAGGTCTAACCCGGGGTGCCAGGAACACACACATCCTCCATCCCAGCATAGAGAATGGGGACTCCCTGAGTAATGGGAGTTCTTTCATGGCCTCTGCTTGGGGTGGGGGAGTCAGCAGCACCCATTTGTACATATAGGTCATTCATACATCACATTTTAAATTGGGGACTGTGTGTGCTGGTGTGTGTGTGAGTTCTACGTTTCTACCATATGTGATCAGTTTAATAGTAACTTTATTTATTTAAAAAAAAGAAACACAATTAGTTACTGTTAAACTGATAAAGGGTGTTTATT)TTTACTTTTAGAATTGGTCCTATGAAGAAGTAGAAAGTGAGTCATGCACTAGACAGTGGGCCTAGCTCATCAGTGGCTAAAGTTGAAAAGGGGTTGGTTTCCTGTATAacTgT|TTAGAGGAATTCCTAACTAGAATAACCAGTTTAGAGAAGAACATAAATGACCTGATGGAGCTGAAAAACACAGCACAAGAACTTGGTGAAACATACACAAGTATCAATAGCTGAATCAATCAAACAGAAGAAAG...AAGATTGAAGATCAACTTAATGAAATAAAGCAGGAAGACAAGATTAGAGAAAAAAGAATGAAAAGGAATGAACAAAGCCTCCAAGAAATATGACATTATGTGAAAAGACCAAATCTACGTTTGGTTGGTGTACCTGAAAGTGACAGGGAG . 18BR004 ENSG00000139154.16 ENSG00000257859.2(271758),ENSG00000257773.1(122) +/+ ./+ chr12:19473355 chr12:106015775 CDS/splice-site intergenic deletion 2 0 0 48 2 medium out-of-frame . . . . ENSG00000139154.16 . ENST00000541908.5 . downstream upstream . ^(TTCGCCGCACTTCCCGCTCGACCCTCGGTTCTGGACAACGGAGATCGTCCCCAGTCAAG___CATAAGCAGTACTATAATGGATGTAGACAGCACAATTTCCAGTGGGCGTTCAACTCCAGCAATGATGAATGGACAAGGAAGCACTACTTCTTCAAGCAAAAATATTGCCTATAATTGT)TGTTGGGACCAGTGCCAGGCTTGCTTCAACTCTAGCCCAGATCTGGCAGATCACATCCGTTCCATACATGTAGATGGTCAGCGAGGAGGG___GTATTTGTTTGCTTATGGAAAGGTTGTAAAGTATATAACACTCCATCTACCAGTCAAAGTTGGTTACAAAGGCATATGCTGACACACAGTGGAGACAAACCTTTCAAG|TTCCTGGCACAGAACTTTAAAAACTCTGGGAATTTCCACCCCTTCTGCGCGGTCATGCGGAGCCAGCGCCTGGGCCTGGAACCGGGCCGCAGTCCCACAGCTTCGACAACCACC MDVDSTISSGRSTPAMMNGQGSTTSSSKNIAYNCCWDQCQACFNSSPDLADHIRSIHVDGQRGGVFVCLWKGCKVYNTPSTSQSWLQRHMLTHSGDKPFK|flaqnfknsgnfhpfcavmrsqrlglepgrsptastt 18BR006 ENSG00000118705.17 ENSG00000101347.10(36710),ENSG00000080839.12(7796) +/+ ./+ chr20:37203960 chr20:36988553 CDS/splice-site intergenic duplication 25 15 1 819 92 high out-of-frame . Oligosaccharyltransferase_subunit_Ribophorin_II(100%)| . . ENSG00000118705.17 . ENST00000237530.11 . downstream upstream duplicates(3),mismatches(1) ^(GGACTCCGGCGGGACCTGCTCGGAGGAATGGCGCCGCCGG___GTTCAAGCACTGTCTTCCTGTTGGCCCTGACAATCATAGCCAGCACCTGGGCTCTGACGCCCACTCACTACCTCACCAAGCATGACGTGGAGAGACTAAAAGCCTCGCTGGATCGCCCTTTCACAAATTTGGAATCTGCCTTCTACTCCATCGTGGGACTCAGCAGCCTTGGTGCTCAGGTGCCAGATGCAAAG___AAAGCATGTACCTACATCAGATCTAACCTTGATCCCAGCAATGTGGATTCCCTCTTCTACGCTGCCCAGGCCAGCCAGGCCCTCTCAGGATGTGAG___ATCTCTATTTCAAATGAG)ACCAAAGATCTGCTTCTGGCAGCTGTCAGTGAGGACTCATCTGTTACCCAGATCTACCATGCAGTTGCAGCTCTAAGTGGCTTTGGCCTTCCCTTGGCATCCCAAGAAGCACTCAGTGCCCTTACTGCTCGTCTCAGCAAGGAGGAGACTGTGCTGGC___AACAGTCCAGGCTCTGCAGACAGCATCCCACCTGTCCCAGCAGGCTGACCTGAGGAGCATCGTGGAGGAGATTGAG|AGTCAGCAGAGCAGTTATATTTTCACAGACAATAGTGGCTCAAAGCCAGGTATGAGCTCACACAAACAGGATACATCAAAATGGCTACATAAATGTGATTACATACTGCATGCAATTGTGCACCTGTGGTCCCAACCTGCTGTCATGCTGTACTGGATGTCTGCCTCAGCCCACTCCTGACTGAAGCACAGCCATTTTCCTTACAGAGGGGCCTGGTGGAAGGTGATTGGATCATGG MAPPGSSTVFLLALTIIASTWALTPTHYLTKHDVERLKASLDRPFTNLESAFYSIVGLSSLGAQVPDAKKACTYIRSNLDPSNVDSLFYAAQASQALSGCEISISNETKDLLLAAVSEDSSVTQIYHAVAALSGFGLPLASQEALSALTARLSKEETVLATVQALQTASHLSQQADLRSIVEEIE|sqqssyiftdnsgskpgmsshkqdtskwlhkcdyilhaivhlwsqpavmlywmsasahs* 18BR006 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 6 0 19 16 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),mismappers(1) ACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTG(GTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 18BR006 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 12 0 22 72 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),mismappers(1),mismatches(1) AAGGAGCTCAGCGCGCCGCCTCCGCCCGGAACGCAAgCAGCTGTTCCCAGAGACGTCTCCGCTCTCAACTTTGCCAACTACTCCGCACGCACTTTGACCAGCGGcGCAACCGGGACCTGTGGGTCGGGGTCCTCTGGCGGAGTTtAAAA...CTCTCCCCTACGAaGCCCACGCGCTCGGATGGGtaTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCtGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGAC(CTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 18BR006 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 5 5 0 29 14 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCA)AATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGAC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyer 18BR006 ENSG00000224559.2 ENSG00000115641.19(98024),ENSG00000287036.1(64166) +/+ ./+ chr2:131639178 chr2:105536537 exon/splice-site intergenic duplication 4 2 1 226 6 high . . . . . ENSG00000224559.2 . ENST00000431979.1 . downstream upstream . ^(GCCAAGCTGGCTCAAAGAGCAACCAGCCACCTCTGCAAGGGTGTGCCAGGAGCAGGTGGAGCAGCCACCAACCTCACCCACTCAAAGAAGCAGGGATGGCCAGGTTCCAACAGCCTGAGTGGCTGCCACCTGATGGCTGATGGAGCAGAGGCGTGAGGAAAAGCTGATGGCACTGCTTTGTAGTGCTGTTCTTTGTCTCTCTTCATCTTTTTCAGTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAAACCCTGCTTTTTTTTGCTTTCCATTTGCTTGGTAAATATTCCTCCATCCCTTTATTTTAAACCTATGTGTGTCTTTGCGCATGAGATGGGTCTCCTGAATACAGGACACCATTGGGTCTTTACTCTTTATCCAACTTGCCAGTCTGTGTCTTTTAACTGGGGCATTTAGCCCATTTACATTTAAGTTTAGTATTGTTACATGTGAAATTTATCCTGTCATGATGTTGCTAGTTTTTAATTTTTCCCATTAGTTAATGCAGTTTCTTTATAGTGTCAATGGTCTTTACAATTTGGTATGTTTTTGTAGTGGCTGGTACTGGTTGTTCCTTTCCACGTTTAGTGCTTACTTCAGGAGCTCTTGTAACGCAAGAATGTGGATTTATTTCTGGTAAGGTAAATAAGTGGATTTATTTCTCAATGCTGTATTCTATGTCCTTTACCCCAAGAATCATTACTTTTTAAAATGCAATTCAAATTAGCATAAAACATTTACAGCCTAGGAAAAGGCTTGTGGCATTAGAATACTTATTTATAGGATTATTTTGTGTTTTTTTGAGATACGGTCTTTGTCATCGAGGCAGAAGTGCAGTGGTTTGATCATAATTCACCACAGCCCTGAACTCTGAGTCCAAGCCATCCTTTTGCCTTAATCTCCCAACTAGTTGGATCTACAAGCATAAGGCATCATGCCTGGCTAATTTTTTTACATGTTTTTTTTTTTTTTTGTCGAGATTATGGTATCACTATGTTGCTCTGGCTGATCTCAAATTCCTGACCTCAAGTGATCTTTCTGCCACAGCCTCCTAAAGTGCTAGGATTACATGCATGATGCACCATGCCTAGCGTAGAGTATTACATTAGTTTCAAAGTCTTATTCTAAGAGCCATTTATTGACTTTGGCCTAAATAACTCAATATAATATCTCTGAAACTTTTTTTGACAAATTTTGGGGCATGATGATGAGAGAAGGGGGTTTGAAACTTTCTAATAAGAATTAACTTAGACCCATTTAAGAAGGAAAAAACACAAATTATCAGAAAAATATAAAAGTAAGATCAAGTGCAAAAGTTCTGTGGCAAAGATGATGAGAGTAAAGAATATATGTTTGTGACTCATGGTGGCTTTTACTTTGTTCTTGAATTTTTGAGTACGAGTTAACATTTAAAGAATCTACATTATAGATAACATTTTATTGCAAGTAAATGTATTTCAGAATTTGTTATTGGTTTTGTATGAGATTATTCTCAGCCTATTTCATTATCAAGCTATATTATTTTATTAATGTAGTTTGATGATCTTACAGCAAAGCTGGAAGCTGTATCTTCAAAATATGTCTATTTGACTAAGAAGAAGTTATTCAACAGGAGTTATTATCTATGAAAAAAGTACAACCAGAATATAAAAAACTTGAGGAGGATAAAAAGATGTTGGAAGAAGTAATATTAAATCTTAAAAAACATGGAAACTGCACATTGGTGAAGACACATTGGTGAAGTACAAAAATATAAATTGGATGTAGA)AGAAAGGGCAATGCAGGCAATAGAAAAAgTAGTAGAAATCCCTTTACAG___AGTAATGATTCTTACTGTGGAGTCATTTGATTATTAAGACCCATTGGCATAAGATTACATCCTCTGACTATAAAAATCGTGGAAGAAAACCTAGGAAATATTCGTCTGGACATTGCACTTGGCAGTGAATTTATGG|CTGCTGAAAGCCGCATTTTAAACCTGAGAGCCTGTCAGGACACACAGAGGCATCCATGGAAAGCCTGTTTTGCGTGTGAACAGCTGGGAGCTGGCCCATGCTTCTTCAGTTCTGTGCTTTTTGGTCTACAGACTGATTTCTGTCATACTGAAGCAATCCTCAC . 18BR006 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 3 2 0 359 25 high . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000560197.5 upstream downstream . TCCTGAATGTGGCAGGTCCGTGTCTGGACCGAGGAGCCCTCACATCGGTTGTTGAGGCTATCGCAGGAGCGGCCGCGCTGCTGAATTCCATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGC(CAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 18BR006 ENSG00000126705.15 ENSG00000128655.18 -/- -/+ chr1:27603397 chr2:177887847 5'UTR/splice-site intron translocation/5'-5' 1 3 0 24 6 high out-of-frame . . . . ENSG00000126705.15 ENSG00000128655.18 ENST00000673934.1 . upstream upstream . ^(AGAGGCAGCGGCGGCGGCGGCGGAGACGGAGAGAGGCAG___CTTGGAGAGCAGAGAAAGGCAGAGAGAGCGAGAAATAGAGACAGTCTGAGAGACAGACAGACAGCCAGAGAGAGCGGGAGGGAGGAGGGCGGAGGAGGAGGAGCAGGAGGACTACGCGGGGCGCGTTCCCTCCCAG___CAGCCGGGCGCC)CGCGTCGCTGCCACCGCCGGAAGACAGACGTCCCCCAAAACCCCTCGCCTGGCTCGGACCCACGGAGCCGGCAGCCCAGCACTCCG|TTATGTGTGGACGTGCTGCCTAGTGCACTATAAAGGGAAAAGCCAGCTGGTGATGGCCAACCACTGAGACAAACAGAGGGCAATGGACAGAGCCTGGGTCCCTGATCACATCATCTGGCTGCTGCGTCATCCCCAGAACCACCTCCTGGAGACTTCTAGTCAT___ATTTCCCCCTGAAAGCCAAAGGGCTTAACAAAACCAGAAAGCTGGCCACAAATTGCCAC 18BR006 ENSG00000126705.15 ENSG00000128655.18 -/- -/+ chr1:27603397 chr2:177887847 5'UTR/splice-site intron translocation/5'-5' 1 3 0 24 6 high out-of-frame . . . . ENSG00000126705.15 ENSG00000284741.1 ENST00000673934.1 . upstream upstream . ^(AGAGGCAGCGGCGGCGGCGGCGGAGACGGAGAGAGGCAG___CTTGGAGAGCAGAGAAAGGCAGAGAGAGCGAGAAATAGAGACAGTCTGAGAGACAGACAGACAGCCAGAGAGAGCGGGAGGGAGGAGGGCGGAGGAGGAGGAGCAGGAGGACTACGCGGGGCGCGTTCCCTCCCAG___CAGCCGGGCGCC)CGCGTCGCTGCCACCGCCGGAAGACAGACGTCCCCCAAAACCCCTCGCCTGGCTCGGACCCACGGAGCCGGCAGCCCAGCACTCCG|TTATGTGTGGACGTGCTGCCTAGTGCACTATAAAGGGAAAAGCCAGCTGGTGATGGCCAACCACTGAGACAAACAGAGGGCAATGGACAGAGCCTGGGTCCCTGATCACATCATCTGGCTGCTGCGTCATCCCCAGAACCACCTCCTGGAGACTTCTAGTCAT___ATTTCCCCCTGAAAGCCAAAGGGCTTAACAAAACCAGAAAGCTGGCCACAAATTGCCAC 18BR006 ENSG00000182185.18 ENSG00000237821.1(46309),ENSG00000131558.15(36250) +/+ ./+ chr14:68291980 chr7:133216823 CDS/splice-site intergenic translocation 3 1 0 32 4 high out-of-frame . Rad51(100%)| . . ENSG00000182185.18 . ENST00000488612.5 . downstream upstream duplicates(1) ^(TTGAAAGTTGGATGCTGCAGACCCG___GCATGGGTAGCAAGAAACTAAAACGAGTGGGTTTATCACAAGAGCTGTGTGACCGTCTGAGTAGACATCAGATCCTTACCTGTCAG___GACTTTTTATGTCTTTCCCCACTGGAGCTTATGAAGGTGACTGGTCTGAGTTATCGAGGTGTCCATGAACTTCTATGTATGGTCAGCAGGGCCTGTGCCCCAAAGATGCAAACG___GCTTATGGGATAAAAGCACAAAGGTCTGCTGATTTCTCACCAGCATTCTTATCTACTACCCTTTCTGCTTTGGACGAAGCCCTGCATGGTGGTGTGGCTTGTGGATCCCTCACAGAG___ATTACAGGTCCACCAGGTTGTGGAAAAACTCAGTTTTGTATAATGATGAGCATTTTGGCTACATTACCCACCAACATGGGAGGATTAGAAGGAGCTGTGGTGTACATTGACACAGAGTCTGCATTTAGTGCTGAAAG___ACTGGTTGAAATAGCAGAATCCCGTTTTCCCAGATATTTTAACACTGAAGAAAAGTTACTTTTGACAAGTAGTAAAGTTCATCTTTATCGGGAACTCACCTGTGATGAAGTTCTACAAAG___GATTGAATCTTTGGAAGAAGAAATTATCTCAAAAGGAATTAAACTTGTGATTCTTGACTCTGTTGCTTCTGTGGTCAGAAAGGAGTTTGATGCACAACTTCAAGGCAATCTCAAAGAAAGAAACAAGTTCTTGGCAAGAGAGGCATCCTCCTTGAAGTATTTGGCTGAGGAGTTTTCAATCCCA___)GTTATCTTGACGAATCAGATTACAACCCATCTGAGTGGAGCCCTGGCTTCTCAGGCAGACCTGGTGTCTCCAGCTGATGATTTGTCCCTGTCTGAAG|TTTCAGGTCTGATCATCGATTCTTCCCACACAGCAGGAAAGGAGGCGATTATGACCAG___ATCTGGCAACCGAAACCTAATGAAACTTGAGATCAACTTGCTGCCACTGAATATAACCCTATGGAGCTGAG MGSKKLKRVGLSQELCDRLSRHQILTCQDFLCLSPLELMKVTGLSYRGVHELLCMVSRACAPKMQTAYGIKAQRSADFSPAFLSTTLSALDEALHGGVACGSLTEITGPPGCGKTQFCIMMSILATLPTNMGGLEGAVVYIDTESAFSAERLVEIAESRFPRYFNTEEKLLLTSSKVHLYRELTCDEVLQRIESLEEEIISKGIKLVILDSVASVVRKEFDAQLQGNLKERNKFLAREASSLKYLAEEFSIPVILTNQITTHLSGALASQADLVSPADDLSLSE|vsgliidsshtagkeaimtrsgnrnlmkleinllplnitlws* 18BR006 ENSG00000278621.1 ENSG00000259345.7 -/- -/- chr15:39588397 chr15:39071608 exon exon/splice-site deletion 1 3 0 139 25 high . . . . . ENSG00000278621.1 ENSG00000259345.7 ENST00000616754.1 ENST00000561058.5 upstream downstream duplicates(1) ^(CAGTGTAAGATATTATAGGGTATAGGGAACCGATAACTTGTTGGGATTATGTTGTCCACCTGCATCTTAGAGCAATCAAATCGCTCAGGACTAACCAAGCTGGAATCTCCTCGAATGCTGACTGCAGCATTCAGTAAAAGAGCAAAGCTCCTGGGTCGTTTCATCCTGGGCTGCGTGGCTCACCAATTGGACAGTCCTGCTTGTTGCAGATCTGGTTTTCTGTTACATCACCAACGCAGTCCTTGCCTCCAAACTGGGGTGTGGGGTTGTTGCAGAGACGACTACGTTTCTGTACCCCTCCTCCACAGGTGACAGAACAGATGTCCCATGGTGACCAAGGACCCCAGCCTCCATTGACTGTAAGAA)GATGAACCACAGGCAACAATTAAGATCAACTTTCAAATCCCTCCCTTGTCATAGACTCTCCTAAGCCCGTTCAAGAAACCTCTGCTTCTCTGACACATGGAAAGAATGCTGGGGAAGAGG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTC(ACCAGTGTCAAG___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 18BR006 ENSG00000230223.7(287724),ENSG00000202433.1(22648) ENSG00000150361.12 ./- -/- chr13:70436816 chr13:69975802 intergenic CDS/splice-site deletion 2 1 0 5 4 high . . |BTB/POZ_domain(100%),BTB_And_C-terminal_Kelch(100%),Kelch_motif(100%) . . . ENSG00000150361.12 . ENST00000377844.9 upstream downstream . TGAAGAAGATGTCTTGCTTCCCCTTCACCTTCTACCACAACTATAAGTTTCCTGAGGCCTCCCCAGCCATGCTGAATT|GCTGTCATCAACCGGCCATTCAATGACACCTCAAAGTGATTTGGACTCCAGTAGCTCTGAAGAATTCTATCAAGCTGTTCATCATGCTGAGCAAACCTTCAGAAAGATGGAAAGTTATTTGAAGCAGCAGC(AACTTTGTGATGTTATCCTGATTGTTGGGAACCGAAAGATACCTGCACATAG___GCTTGTTCTGAGTTCAGTCTCCGACTATTTTGCGGCCATGTTTACAAGTGATGTTTGTGAAGCCAAGCAAGAGGAGATCAAAATGGAAGGCATAGACCCCAATGCTCTCTGGGACCTTGTCCAATTTGCATATACAG___GCTGCTTGGAATTAAAAGAGGACACCATTGAGAACCTTCTTGCTGCAGCGTGCCTTCTTCAGCTTCCACAGGTGGTGGAAGTGTGCTGCCACTTCCTCATGAAGCTTTTGCATCCATCTAACTGTTTAGGAATTCGAGCCTTCGCAGATGCTCAAGGATGCATTGAGTTAATGAAGGTGGCCCACAGCTACACAATG___GAAAACATAATGGAAGTTATCAGAAATCAAGAGTTTTTACTCCTTCCAGCTGAGGAGCTCCATAAACTACTGGCCAGTGATGATGTCAATGTTCCTGATGAAGAAACCATCTTCCATGCATTGATGATGTGGGTCAAGTATGACATGCAGAGTAGATGCAATGACCTGAGCATGCTTCTTGCCTTTATAAGACTGCCACTGCTTCCACCACAG___ATATTGGCTGACCTAGAAAATCATGCATTATTTAAGAATGATCTGGAATGTCAAAAGCTGATTCTAGAAGCAATGAAATACCATCTATTGCCAGAAAGAAGAACTTTAATGCAAAGTCCGAGAACTAAACCCAGAAAATCTACAGTCGGAACTTTGTATGCTGTAGGAGGAATGGATAACAACAAAG___GAGCTACAACTATAGAGAAATATGATCTGAGAACAAATCTGTGGATCCAGGCAGGGATGATGAATGGCAGAAGGCTGCAGTTTGGTGTGGCTGTTATTGATGACAAACTCTTTGTAATTGGAGGTCGAGATGGCTTAAAGACATTGAACACTGTTGAATGTTACAATCCCAAAACCAAGACATGGACTGTCTTACCACCAATGTCAACACACAGACATGGTCTAG___GTGTAACAGTACTTGAAGGCCCTATTTATGCTGTGGGAGGCCATGATGGCTGGAGCTATCTGAATACAGTGGAAAGGTGGGATCCACAGAGTCAACAATGGACATTTGTAGCCAGTATGTCAATTGCTCGGAGCACAGTTGGTGTAGCAGCATTGAATGGCAA___GTTGTATTCAGTTGGAGGTCGTGATGGAAGTTCCTGTTTGAGTTCAATGGAATATTATGATCCTCATACAAATAAGTGGAACATGTGTGCTCCCATGTGTAAGAGGAGAGGGGGTGTCGGAGTGGCCACATGTGACGGTTTTCTTTATGCAGTAGGAGGTCATGATGCTCCTGCTTCAAATCACTGTTCCCGGCTACTGGATTATGTAGAAAG___ATATGATCCCAAAACAGACACTTGGACCATGGTGGCTCCTTTGAGTATGCCCAGAGATGCTGTTGGGGTCTGTCTCCTTGGTGACAGATTATATGCTGTTGGTGGCTATGATGGACAGACATACCTCAACACTATGGAATCCTATGACCCACAAACTAATGAGTGGACACAG___ATGGCTTCCTTGAATATTGGGAGAGCAGGTGCCTGTGTGGTAGTCATCAAGCAACCTTGACTTATTGATATTTTACTTGGAAAGATTTTACTTGCTGGAGTGGTTATTTTTATATTGAATGGCAAGAATGAGAACTTCCAGAGATGAAAACTCTTCAAGAACAAGGATCTCTGTAGCGTTACCTACTGATGTTGAAAGAGTTAGTAGATCAAACAGAATAGTAGGAAACAAGAAAACATTAAACTTATACAGGAAAAATGTCTGGCCATATGTTAGTTAGTTCGGGAATGGTTATTGGTAATTTGTTTTGTATTATAGCATACAATAACTAGAGTTACCAAAGGCTTGTTTTTTCTTGAGCAGTTGAAAGGAGAGACCAATATTTGTGACATGGATAGTTTCATGACCACAACTCATTCAATCATTTTATAGTCTATGGCAATATCCAAGAGATTGCCAAGAGTAGAAGACAGAATATTTCATCTGACAGTATCTGATTGGTTTACTGTTTTTCTAATCATATGTGGTCATAACGGGAAGCAGAATTATGCTTTATTCAAACAAACCTGCTTCTGCCTCATTTTCCTAAGCTATGAGAACAATTAGAGAAACAGATTCATGCTTGTATCTTGCATTCAGAAAACAAACTGTCCTACTAATCAAAGCTGCATATCTCATCAGAGATAATGGTTGAATTTTATTGCAACCATATTGGCAATCTGAAACTGGCAAACACAAAGGATTGTTTTCACTAGGCTTACCATTTTGCTTTGCTTTTTTAACACACTGAGCCAAAGATGCAGTGTAATTATTGGGCTTTTGCCTTATGTTGAGTTCAGTGTAAGCATGGAAGCTAGTGATTCTGAATGATATATATATCCATTGCATGTTGAACTCCTTTAGAATTTTGTTCTTAAACAAACTTAGAATTTCAAAAGAAAAACATATGATCCATTAAGTTGGAGTGTTTATGATTATTGCTAGAAAGAAGGCAGACTTCATATTCTCATCGCCCATTTTTCAAACTTGTTACATTGATCTGTACATTATTTTAAGCCACATGTTTGTAATTGTTTAAAACAAAGTGGAAACATTACACAATGTCCTTAATAAATAGGCCCATGTAAATTTTAATTACAATTAATAAATGATCAAAAAATTTGCA)$ . 18BR006 ENSG00000173621.9 ENSG00000272274.2 +/+ +/+ chr11:66858204 chr13:106680717 CDS intron translocation 29 26 1 101 80 medium out-of-frame . Leucine_rich_repeat(100%)| . . ENSG00000173621.9 ENSG00000272274.2 ENST00000309602.5 . downstream upstream duplicates(3),mismatches(1) ^(GCCGGCGCGCACCCGCTCGCCTGTCGCCGCCGCCACCGCTAACCGCGCCGGGAAAAGGTGCCGGGAACCGAGCGAGCCGGGGCCGCGGGCCCGAGCGCCATGGGCCCGAGGGTGGGCGGCGGGCGGCCGGTCATCCCCGGGCCTCGTCCCCGCGGGAGAGCGGCCAGGAGTCGGCGGGGGCCGGCCGGGCTCGCAGGGAGGCCGGCCCGCGCCCCCTGAGCGACGGACACCAGGTGAGGGGGCCGCCGGGCGCAGCGCGGGGGCCGGCCAGGGAGGGGCCACGGACTCCACGGGAGGTTCGGGGGGCGCCTTCTCTGGCGGGGGAGGGTATGGCGGGGAGTGGGGAGGCGGCTGGCGATTCCTGGGGACGCCTGGGAAAGGAAGTTCCGGGACCCTCCCTGCTCTCGGTCCTCCTCCGCTTCCTGCCTCATGCCTCACCTTGTCCCCAGCGCCTGGACTCCCCCTTAACTGCTTGGGAAATGTGACCTTTGCTCTGGGGGGCCTGGCCCTGCAGGCCCCAACCTTCCCTCATCTCTGGCGGCCCTCTTGGGCCTCTGACCCAGCCCCTCCCCGGGCCAGGCTCACAGAAGCTGGCTTCTGGGACTGTCCTGGGCCCAAGTGGGCACCTGCGCCAGCCCCACCTGTGCCTGGGCTGTGGCCCCTTCCTACAGGGCGCTCACCATGGCCCCGCCGCTCCTGCTGCTGCTGCTGGCCAGTGGAGCGGCCGCCTGCCCGCTGCCCTGCGTCTGCCAGAACCTGTCCGAGTCGCTCAGCACCCTCTGTGCCCACCGAGGCCTGCTGTTTGTGCCGCCCAACGTGGACCGGCGCACAGTGGAGCTGCGGCTGGCTGA)CAACTTCATCCAGGCCCTGGGGCCCCCTGACTTCCGCAACATGACGGGACTGGTGGACCTGACACTGTCTCGCAATGCCATCACCCGCATTGGGGCCCGCGCCTTTGGGGACCTCGAGAGCCTGCGTTCCCTCCACCTTGACGGCAACAGGCTGGTGGAGCTGGGCACCGGGAGCCTCCGGGGCCCCGTCAATCTGCAGCACCTCATCCTCAGCGGCAACCAGCTGGGCCGCATCGCGCCGGGAGCCTTCGACGACTTCCTAGAGAGCCTGGAGGACCTGGACCTGTCCT|TTATAGGGAGTGTGTTGAATTTTGAGGGGCTTTTTCATTTGACATTTATACAATTAGCCATGGCTTTGGCTGGGGTGTTAAAAAAGGCAAGTAGGAAATCACCAGAAACAGGAGAACTTACAGATATGTTGCCTTTTTTGGTGTATGTGGAACATAGTACGAGAAACTCTCATGGGAACTCTGAGGAAGGAAACATACCATGTCTGTCACTAACCAGGGAAAAAAAATGTCACTGGGCCAGTAAGCATTAAGCAGAACAATAAGAACTTCCTGGTGCCAAGAGTCAGGACAAATGTGTGAAAGGGAA MAPPLLLLLLASGAAACPLPCVCQNLSESLSTLCAHRGLLFVPPNVDRRTVELRLADNFIQALGPPDFRNMTGLVDLTLSRNAITRIGARAFGDLESLRSLHLDGNRLVELGTGSLRGPVNLQHLILSGNQLGRIAPGAFDDFLESLEDLDLS|figsvlnfeglfhltfiqlamalagvlkkasrkspetgeltdmlpflvyvehstrnshgnseegnipclsltrekkchwaskh* 18BR006 ENSG00000124126.14 ENSG00000124198.9 -/- +/- chr20:48821406 chr20:48942135 intron intron duplication/5'-5' 7 14 0 50 170 medium . . RhoGEF_domain(100%)| . . ENSG00000124126.14 ENSG00000124198.9 . . upstream downstream . GCcGCCCCTCAAACCTGTGTGCTGTGTCCCACAGCATCATTCCCCAGACATGGGGCCAGGTCGGAGCTGATTCCTGCCCTGCGTTTCGGAGATCTTGAACAGAAGCCAG|ATCTCCAAAAAGAATACGTTAAACTGCTCCTTTCTGCATCGCCTCTGACAGCACTGAGTGCCAGCGTGGTCCCCAGCATAGTTCTGTGTAAGGACCAACTGTGGCTTGGAGAGAACCCCCTTGACAACACGAAGTTTAAACATGGTACCTGCAAGCAGTCAAGGGATGTGCTGACTACCCTTGGGGACTTGGACTGGCAAGCTAGCTCGAATGGAAGAAAATACTTGTCAGCTTCAATGAAGTTTGCCTTTGGTGGTGCAGCAGTGCCAAGCCTAGGAGAAAAGCAAGAGAGGGTCGGGAGAAGAAATGAATTTTCTACACCTTACTCTAACTTCCCATTCCATCTGCAAC . 18BR006 ENSG00000286116.1 ENSG00000107796.13 -/- -/- chr10:88990939 chr10:88948953 exon 5'UTR/splice-site deletion/read-through 6 5 0 13 796 medium . . |Actin(100%) . . ENSG00000286116.1 ENSG00000107796.13 ENST00000651408.1 ENST00000224784.10 upstream downstream . ^(TCAAACTGGCAGTTTACTCTGGTAATCTGGCACCCCTAAAGCAATGTAGTAGCCTTCAAAGAGATTCCTTTGAAACACTGACACTTCTCCTATGTGTCAGTATAAGAGTATTCAGAAGGAAATTACTTGTCCAGTGTCTCAAAGAGCTTACTCAGAGACAACGTCCAAATTCCAGAACTTCTTTGCCTCTAATTTGCTGCTAAGGGTGGTAACTGTATTTCAGGCATGAACATTAGAGGATTTTTCATCAGTCTAACTATAGCTGGTAGTGGGGGTGCTGCCATTTATCAATTTAATTTTTGCTTGCAAACCTGGCCATCATTTACAAATTTGTGTTTTTCCATCCTGGTTGCTAATGTCTTAATTCATATTTTATCATTTTATTGTATTTGTAAGACTTCTCAAGTCCTTTGTGATGTAAATATGGCCCATTAAAAATGAAAATAAACAGCCCAATATGTTCGTTAGGTTGGCTTAAGAAAAATTATTAAATTACAAATTAAGCTACAAAAATAAATAAATATTCCATTTTATGCTCTTTGGGTTGGTTTAAGAAAAATGATTAAATTACAAATTAAATAACTGTTCTTTATTTTCCCCACAAAACTATTCTGTATGACTGCTTGTAAATACACAGCTTTATTTTCCAAAGGCCCTCTCCCTTTCCTTTGACCATAAGATAACCATTCTACAAAATGTAAAGGAGAGCAAACTGGCTGTCCAGTGATTGCCTGGCCAATGTCCTAAATAATGCAAGACAAAACCTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTTAGAGGCTTCGGAATTCAAATGAGCCTCATGGATCCACATCCCTTCAATTAGCAAGCTGGCATTTCTGAGCGAGGGACTTTCCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAACAGGGTCATGCACAATAAAAAAAAAAAATGCAACCCACAGCTATTTCTCAAATTAATTTGTAAAGTAAGTTTGACTCTTTTTCTGTCTCCTTTAGAAATTTGTCAACTTTTTGGGATTTCAAACTTTTTTATTGTAAGTGTCGGAGTAAAAACACTCAGAAATAGGAAAGAGAAAACTAACACCAGGAAGGTTGAGAGAAGGAAAGAGAAAGAGAAGCAAAAGGGGTTAAGGATGGGGATACTTGTTGACTATAGTTATCACCAGAGTCAGAGGACTAGGGGAAGAGGGGAAAAGCAGAAAACAGCTCCCCACCCATCTATGTCCAGCCCATTAATAGAATTAAAATTTGCTTCTGTATTCCAAGTAATTAGCACTTTGCATCTATTTTATTTATTGCTACTACTAAGAAAACATAACCGTGAAGGCATAAAAGCAAACATTTTCTGTAGACACATGAGGTGACACAAGAGTGTTGAAACTTCTTTAAGGATAAAGGCCTGATGTTAGGCATGTCGTGAGCGCAAAACCAATTTCTGTGTAACTAAATTTAAAAGAGTCATATTAGAGGGGAGAAATGGAAGATAAACTGCAAAACGTAAACAATGATTACTTAGGTGATAGAGTTATGTCTGATCTTTGTATTTGACTCATCTGCATTTATAAATTTTATTTAATAAGCCTTAATTTCCTAGGCCATATATCATATACAAATATAAGTTATACCTAACTTATAGGTATTATAATATGTATATATACATAAATGTATGAATATTTACATATGCGTGTGTGTGTGTATTCTTTCAGAAAAGCAAAGTTTTCTTCGGGCTTTAAACACGCAGCCTCTGGTAAAGGTGCTATTGGTACAAAAGTTCAACAAGCATAGCTCCAAGCTTTGACAATTTTCTTACACTTTACTAATACTGCTGTCCAAAAACTATGAGATTTTCAAAGCAGCCAACATTGCAGTGGTGCAATGGTTAATAACAAGAGAGAGAAGAGTGTGGCCTGAGGTTGTATAAATGTTTTCTCAATCTTGAATCATTAATTTTCTCCAAGGAAGTTTCTAAAGAATCCCAAATAGTGCACACTATTTCTGAAAGGAACAGGATTTTTTTTTCTAATCATAAAATGGACCCAGACATCTCAGCCTCTTGGTGTAATCTGGATATCAGATGCAATCAGCGAACAGCCTGAGTTTTGGAATTAGATCTGAGTTCAATCCCATATCTCCCATTTACTAGCTGTGTGATCTTGGCTGAATTACTGAAGCTCTCTGAACCTCATTTCGCCATCTGTAAAATGGGGATGTGGTTATCTTCCCCACTACATGGCTCTCGTGAGAATCCGCGGAGATCACATTTGTAAACACTTCTCTCGCTATGCCTGGCACTTTGTTGGGGCCCAATAAAATAAAAATCCATGGACTCTCAGAGGCTCCGGTACTCAAATGAGCCTCCTGGATCCACGTCTCTTTGATTAGCCATCTGCAAGCTGGCATTTCTGAGCGAGGGACTTTTCAAAACAGGCTGCTCAAGTTTCTTGGCCAATAATAGGCGCCGGGTTCTGTGCGGTGGGAACGAGTACCACCAACCCCAGCAGGAGACCAAGCAGAAATCACCATGGGAGTGCAAGCTAAGAAAGGGCAAAAGAAGAAAGAGAAGGGCAGAAAAACAAAACAAAATGAAACCACTCAGGCAGCGACTTACAGTCTTAAAGAGAGAATTCCCGGAAGGGAGACAAGGCAGTTTCTTTTTCTGTGTGACAATAAAAAACGGTAAACAAGCCTCCAGAAGCTCATTCAGCCCCCATATAACTTTTTCGAGAAAGAAAAGGTGCCGTTCTTCCGAGCCCTCCGGCTTAACCACTGCTTCGGTGCTGACTTATTTCCTACGTCTGAGAACTGCCAGAAAATGAGCAATATCTGTTCTGAAGGCTGCAGGCTCTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTCCGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCTCAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGCAAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGT)CCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGCCGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACGGG|AATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAG___GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCACAGAGC(AAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAG___ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAA___ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTG___GCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTG___CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTTCATCG___GGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCATGAAGATCAAG___ATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAA)$ . 18BR006 ENSG00000155561.15 ENSG00000198736.11 +/+ -/- chr7:135606228 chr16:1941342 intron CDS translocation 0 2 0 53 118 medium out-of-frame . |SelR_domain(100%) . . ENSG00000155561.15 ENSG00000198736.11 ENST00000285968.11 ENST00000361871.7 downstream downstream . ^(AGAAGGGCTCTGTTAGTGCGCCTCTAAGATGGCGACGCCTTTGGCGGTAAATTCGG___CTGCTAGTCTATGGGGTCCTTACAAAGACATTTGGCATAAAGTGGGAAATGCTCTTTGGAGAAGACAACCTGAAGCTGTTCACCTTCTTGATAAGATTTTGAAGAAACACAAACCTGACTTCATCTCATTGTTCAAAAATCCG___CCAAAAAATGTTCAACAGCATGAGAAGGTTCAGAAAGCCAGTACAGAGGGAGTCGCCATTCAGGGTCAACAGGGAACTCGACTTCTTCCTGAACAGCTCATTAAAGAAGCCTTTATTCTCAGTGACCTTTTTGATATTGGAGAATTGGCAGCTGTTGAGCTTCTTCTTGCTG___GAGAGCATCAACAGCCACATTTTCCTGGCCTTACCAGAGGATTAGTAGCTGTTCTTCTGTACTGGGATGGAAAGCGATGCATTGCGAATTCCTTGAAAGCCTTGATACAGTCTAGACGGGGAAAGACATGGACCCTAGAACTCAG___TCCAGAGCTGGCTTCCATGACAACACGCTTTACAGATGAGCTGATGGAGCAAGGATTGACTTATAAAGTTCTTACGCTGGTGTCACAGATTGATGTGAATAATGAGTTTGAGAAACTACAGCGAGAGAGAGGTTTGGGCAGTGAAAAACATCGCAAAGAG___GTTTCTGATCTCATTAAGGAGTGCAGGCAGTCTCTTGCAGAAAGCCTTTTTGCCTGGGCTTGCCAGTCACCTTTAGGCAAAGAAGACACTCTCCTCCTCATTGGACATTTGGAAAGAGTGACAGTTGAGGCTAATGGCTCACTGGATGCAGTGAATCTGGCTCTTCTTATGGCGCTTCTATACTGTTTTGATATCAGTTTTATAGAGCAAAGCACAGAGGAACGAGATG___ATATGATTCATCAACTTCCACTGTTGACAGAAAAACAGTACATTGCAACAATTCACTCTCGTCTTCAGGACTCACAGCTTTGGAAACTGCCTGGGCTCCAAGCCACTGTTAGACTTGCCTGGGCGCTGGCATTGAGGGGAATATCCCAGCTACCTGATGTGACAG___CTCTGGCAGAATTCACAGAGGCAGATGAAGCAATGGCAGAACTCGCAATTGCTGACAACGTTTTCCTGTTCCTCATGGAATCTGTAGTGGTATCAGAATACTTTTATCAGGAAGAATTTTATATTCGCAGAGTCCATAATCTCATCACAGATTTCCTTGCACTTATGCCAATGAAG___GTGAAACAGCTGAGGAATCGGGCAGATGAAGATGCTCGAATGATTCACATGAGTATGCAGATGGGTAATGAACCCCCCATTTCACTTAGAAGGGACCTGGAACACTTAATGCTTTTG___ATTGGCGAGCTATATAAAAAGAACCCTTTTCATCTGGAGCTTGCTCTAGAATATTGGTGTCCCACAGAGCCTCTTCAGACTCCGACTATCATGGGCTCTTATCTAGGGGTGGCTCATCAGCGGCCCCCTCAACGCCAG___GTTGTCTTGTCAAAGTTTGTTAGGCAAATGGGTGACCTGTTGCCTCCAACTATTTATATTCCTTATTTGAAGATGCTCCAGGGATTGGCCAATGGGCCTCAGTGTGCCCACTACTGTTTCAGCCTGCTCAAAGTCAATGGTAGTAGTCATG___TTGAAAATATTCAGGGAGCAGGTGGCAGTCCTGTTTCCTGGGAACATTTCTTTCACTCCTTGATGCTTTACCACGAACACCTTCGGAAGGATCTTCCAAGTGCAGATAGTGTCCAGTACCGTCACCTTCCTTCCCGTGGCATCACCCAGAAGGAGCAAGATGGATTGATTGCTTTTTTGCAGCTCACGTCTACCATCATTACTTGG___AGTGAAAATGCTCGCTTGGCACTCTGTGAACACCCTCAGTGGACCCCTGTTGTGGTGATTCTGGGACTCCTCCAATGCAGTATTCCCCCTGTCCTAAAAGCTGAGCTACTGAAGACACTCGCAGCTTTTGGAAAATCTCCTGAAATTGCTGCTTCCCTCTGGCAGTCATTGGAATACACTCAG___ATACTGCAGACCGTGAGGATTCCAAGCCAAAGGCAAGCTATTGGTATTGAG___GTTGAACTAAATGAAATAGAATCCCGGTGTGAAGAATACCCATTGACTCGGGCCTTTTGCCAGCTTATTAGTACTCTGGTGGAGAGCTCATTTCCTTCTAATTTGGGTGCTGGACTGCGGCCCCCTGGCTTTGACCCTTATTTGCAGTTCCTTAGAGACTCTGTGTTTCTACGATTCCGTACAAGAGCTTACCGGAGAGCAGCTGAAAAG___TGGGAAGTTGCTGAGGTGGTTTTGGAGGTGTTTTATAAATTGCTCAGAGATTATGAGCCTCAGCTTGAAGATTTTGTAGACCAGTTTGTGGAACTACAAG___GAGAAGAAATCATAGCCTATAAGCCACCTGGATTTAGTCTGATGTATCATCTGCTGAATGAGTCACCAATGTTGGAGCTTGCTCTCAGTTTACTGGAAGAAGGAGTTAAGCAGCTTGACACCTATGCCCCCTTTCCTG___GGAAAAAACACCTGGAGAAAGCAGTACAGCATTGCCTTGCACTTCTCAATCTTACTCTGCAAAAGGAAAATCTTTTTATGGACCTTCTAAGAGAGAGTCAACTGGCTCTAATAGTCTGTCCTTTAGAACAGCTTTTGCAGGGAATTAATCCCAGAACTAAGAAGGCAGATAATGTGGTAAACATTGCCAG___ATACCTATATCATGGCAATACTAATCCAGAATTGGCTTTTGAAAGTGCCAAGATCCTCTGTTGTATCTCTTGCAACTCTAATATTCAGATAAAGTTGGTTGGAGATTT)CACACATGACCAG___AGTATAAGTCAGAAACTAATGGCTGGATTTGTGGAGTGTTTGGATTGTGAAGATGCAGAAGAATTTGTACGTCTGGAAGAGGGT|CGTCTCCATGGCCGGCGTTCACCGAGACCATTCACGCCGACAGCGTGGCCAAGCGTCCGGAGCACAATAGATCTGAAGCCTTGAAG___GTGTCCTGTGGCAAGTGTGGCAATGGGTTGGGCCACGAGTTCCTGAAC(GACGGCCCCAAGCCGGGGCAGTCCCGATTCTGAATATTCAGCAGCTCGCTGAAGTTTGTCCCTAAAG___GCAAAGAAACTTCTGCCTCCCAGGGTCACTAGGCGGGCAGCCCACACCCACCCCAGACGGCCACCACACTGAGGCCACACGTTGGCCATTCCACCTTGGAGTTGGAACCCTGGGCGTCGAGACAGGAAGGCAGGGCGCAGTGGTTGAAACATCAGGACACTCCCAAGGCCCCGGCTCTGAACAAGACCTTTTCGTTTCTTGGAAAAGAGACTCATTTGCTGATGGTTCATGCCTTCTGCTGGGACAGGCCTGGGCTGTGCAGCCACACTGTCGGCTGACTTAGCCCCCTGCTCACTCTAGGTGCCTCCAGGAGGTGAGCCCTGGGTGCAGCTGGTCTCTGAATGACGTTACACCCTCACCTTCTTTTCCTGGCCCTGTCTCTGGACTCTCCCCTGTGAGGCCCAATTCCAAGACAGACTCTCGTCCTCACCGAAGCTTAGGCCCACATCTCCCAGGCTGCTTAGGAGACAGAATGGAAACGGAGGCCGCCCCTGCCAGCCGCCCTGGCCCTGGTCACTGCATGATCCGCTCTGGTCAAACCCTTCCAGGCCAGCCAGAGTGGGGATGGTCTGTGACCTGCTGGGAAGGCAGGCTGATGGGGCACACCCTTGGCCTCTCGTCCACGAGGGGAGAAACCTAAACCCTGTTTCACAATCTGTGCGGAAGTAGCTTGCCTCACTTCTGCTTAGGAAAGCGGCTGTTGCTCCATAACTCTAACCAGCACAGGGCTGAGGCCTGCAGTGCACACCTGCAGGGAGGCCCTTCCCAAGGTGTGGTGACTGTGCCTTACTGTACATGCTCGGAGGCCTGGCCATATAGGAGGGTGGGTGATGCTGAAATCACCCCCCATCTTAAGTAATTACTTTCTGGAGTAATCAGGTGGAAATCCATAGACAAATGAAACATTCAGATGTACTGTCTTTTTTTTTGTTTT)$ MATPLAVNSAASLWGPYKDIWHKVGNALWRRQPEAVHLLDKILKKHKPDFISLFKNPPKNVQQHEKVQKASTEGVAIQGQQGTRLLPEQLIKEAFILSDLFDIGELAAVELLLAGEHQQPHFPGLTRGLVAVLLYWDGKRCIANSLKALIQSRRGKTWTLELSPELASMTTRFTDELMEQGLTYKVLTLVSQIDVNNEFEKLQRERGLGSEKHRKEVSDLIKECRQSLAESLFAWACQSPLGKEDTLLLIGHLERVTVEANGSLDAVNLALLMALLYCFDISFIEQSTEERDDMIHQLPLLTEKQYIATIHSRLQDSQLWKLPGLQATVRLAWALALRGISQLPDVTALAEFTEADEAMAELAIADNVFLFLMESVVVSEYFYQEEFYIRRVHNLITDFLALMPMKVKQLRNRADEDARMIHMSMQMGNEPPISLRRDLEHLMLLIGELYKKNPFHLELALEYWCPTEPLQTPTIMGSYLGVAHQRPPQRQVVLSKFVRQMGDLLPPTIYIPYLKMLQGLANGPQCAHYCFSLLKVNGSSHVENIQGAGGSPVSWEHFFHSLMLYHEHLRKDLPSADSVQYRHLPSRGITQKEQDGLIAFLQLTSTIITWSENARLALCEHPQWTPVVVILGLLQCSIPPVLKAELLKTLAAFGKSPEIAASLWQSLEYTQILQTVRIPSQRQAIGIEVELNEIESRCEEYPLTRAFCQLISTLVESSFPSNLGAGLRPPGFDPYLQFLRDSVFLRFRTRAYRRAAEKWEVAEVVLEVFYKLLRDYEPQLEDFVDQFVELQGEEIIAYKPPGFSLMYHLLNESPMLELALSLLEEGVKQLDTYAPFPGKKHLEKAVQHCLALLNLTLQKENLFMDLLRESQLALIVCPLEQLLQGINPRTKKADNVVNIARYLYHGNTNPELAFESAKILCCISCNSNIQIKLVGDFTHDQSISQKLMAGFVECLDCEDAEEFVRLEEg|rlhgrrsprpftptawpsvrstidlkp* 18BR006 ENSG00000126217.21 ENSG00000229373.9 +/+ +/+ chr13:113024758 chr13:113898526 CDS/splice-site exon/splice-site deletion 1 1 0 65 3 medium out-of-frame . Divergent_CRAL/TRIO_domain(100%)| . . ENSG00000126217.21 ENSG00000229373.9 ENST00000375604.6 ENST00000426859.1 downstream upstream . ^(AGGGACATCGAATCGGAGGCCCTGGGAGGAGCAGCCGGCTGGCTGCCCTGCAGAGGCCAGGTCTGCCCAGCAAACCCAGGAAGGTGTGGCGTCCCCGCTTCGCGGCCAAGATGGTGCTGGTGCTGCGCCATCCTTTGTGTGCCCGGGAAGGGCGTTCCGGGAGCCGGGTCGGGGGCTCCTGACTCGCACTGGGCAGCATGACGGTGCGCCGGCTGTCACTGCTGTGCCGGGACCTCTGGGCGCTGTGGCTGCTGCTGAAGGCCGGCGCAG___ATGAAATCATGCACCAGGACATCGTCCCGCTCTGTGCTGCCGACATCCAGGACCAGCTAAAGAAGCGCTTTGCTTACCTGTCCG___GTGGGCGGGGGCAGGACGGAAGCCCGGTTATCACCTTCCCTGACTAC)CCGGCCTTCAGCGAGATTCCGGACAAGGAGTTCCAGAATGTCATGACCTACCTCACCAGCATCCCCAG|GCCGGAAAAGAGGCATAAACTCGGAGAACCCAAGACCCCGGCCTGGCGTGCAGCCCCAGCAGCCGGACCAGCCTTGGGCAACAGCGTGCGACGTTCAGCTGTCTGTGTCTCCAGTGCTCCCATTCCATCGCACCTGAATGAGGGATTTGGGAGGTAAAACAG(___GGCTGAGCGTGCGTTCGAGCTTCTCCTGCATCATGACCAGGATGCTCTGGGACACCTTGTCCACGTCTGTGTCCACCAGTCCTGCTCAGAATCTCCCCAGGGGCTTTTCCACGATGCCCATCCAGGCGTCACCCTCACTCTAGGCCAGGAGGAGAAGGCATGCCCTGAGGATTCAGCCTCTTCTTCTTCATCCCTCCCAGCACCCAGTGTGTTGGGTGCACACA___TTATGGTTCCAAACCAGAGTTTCCCTAGGAAATAAACACGGAGGGGCTGAAAGGACCTGGGGCCATCGGGGGTGGATGGCCATATCCTGGGGCCTTGATGCCAGTGCCGACTGTTCCCTGCACGCTTCCACGTCCACGCCAACATTGCAAGGCTATGTCACGGACTGGAACAGCTACAGTGATGACACACCTGAGGTGAACACAACTCCAGCAGCATCCTGGCCTCTCATGGGGCAAGTGCATGTGGAATCTAGAAACTTCACAGCTGAGCCTGCAAAGGTGCTCATGGCATGCAGAAGTGTTTCTGG___ATCCAGTGGTAGGAAGTCATTTCAAGCAGCTTGTGAACATTCACAGAAGCAGCTCAGGATCATCCTGCTGCTTCTGAGAG___CAGGTGTCGGGCCCCAGGCTGGAGGCCACGTGCCAGGCTGGCAGGATTTGTCCACTGTGAAGCTCGACGCCCCCGCAGGCCCTGTGCTGCCCGCCCGGATCCCCCTGCCTCAGGATGCCCTCCACACCCTCCGAATTCCCAGCCGCTGCTCTGGGGCCTGCACAGAGGGCTTGGGCCCAGCACCTGGAAACTCCAAAGAGGCAAACGGGTTCATGTCCAG___GTTTTGTCAGATCGCTTCCGAGGCTGCCCTCTTCGCCGTGGCTGCTGAGTGCAGAGCTGGGCATCTGAGTGGACAGAGTGGTGCTCCGCTTCCTTGCATCTCCTGGGCCATGCGTGGTGACCTGTGCCCACTGCATCGCTCCTGTGTGCCCTGTGCATGTGACCGTGTCTTTCCCGTGTATTCAGTGCTGCTTCATGT___CTTCCAGTTCCGCTTTGTGGTTTGTGAGTGACCAGTGCATCCCGTTCCTGCTGCAGCAGCTGCAATGTGCACTGTCCTGCAGGAAGCCCTCGGGGTAGGGCCTGGGGGCTGTGGGAAGCTCAGCAACAAGGTAAGGGAATGGGCAGCTTTGTTTTATTTATTTATTTATTTTTACTATTTAATTATCTCACCTTATTACACTTTAATTAAAATATCGATCTTTACACAATACACTTGAACTGTGGAATAAAGCAGGACCAGATGTGGA)$ MTVRRLSLLCRDLWALWLLLKAGADEIMHQDIVPLCAADIQDQLKKRFAYLSGGRGQDGSPVITFPDYPAFSEIPDKEFQNVMTYLTSIPr|pekrhklgepktpawraapaagpalgnsvrrsavcvssapipshlnegfgr* 18BR006 ENSG00000111885.7 ENSG00000216998.1 -/- -/+ chr6:119201254 chr6:49574288 CDS/splice-site intron inversion/5'-5' 0 2 0 62 6 medium out-of-frame . Glycosyl_hydrolase_family_47(100%)| . . ENSG00000111885.7 ENSG00000216998.1 ENST00000368468.4 . upstream upstream . ^(AGTGCTCGCGGGGCCGCGGCGGAGTGTACCGTGCTGCTCTACTCGCTGCCATTCGCCCGCAGGTCGGCGCGCTCGCCCACCTGAGCCGCGCCGGGGCTGCGGGACCGTGGGACAGCGCGCTCAGCCCAGCCTAGGAAAGAGGCAGCAGTCTCAGCGCGGAGATGGGGAGCGGGCGAAGTTGACGAGTCTCCCGCCCACGCTGCGCCCCTCCTGCCCAGAG___GGGCTGCAGCCAGCGGTCTGTCGCGCGTGCCTGTGTGCCCGAGGAGCCGCCCCGGGGAGAAGACCCGGCGCGGAGTTGTTCCCCCAGGGAGGATCCGCAGCCCAGCCGAGGGGGTCGGGCGGCCTGGCTACGCAGGACCCAGCCCCGCAGCCGCGGACTCCCAGCGGCGGCGAAGTTTGGCTGCTGAGCGGCGCGGCGCCGGACCACTGGACAGCGGGAGCGATGCCCGTGGGGGGCCTGTTGCCGCTCTTCAGCAGCCCCGCGGGCGGCGTCCTGGGCGGGGGGCTCGGCGGCGGCGGTGGCAGGAAGGGGTCGGGCCCCGCCGCCCTCCGCCTGACGGAGAAGTTCGTGCTGCTGCTGGTATTCAGCGCCTTCATCACGCTCTGCTTCGGGGCGATCTTCTTCCTGCCAGACTCCTCCAAGCTGCTCAGCGGGGTCCTGTTCCACTCCAGCCCCGCCTTGCAGCCGGCCGCCGACCACAAGCCCGGGCCCGGGGCGCGCGCCGAGGACGCGGCCGAGGGGCGAGCCCGGCGCCGCGAGGAGGGGGCACCCGGGGACCCGGAGGCCGCCCTGGAGGACAACTTGGCCAGGATCCGCGAAAACCACGAGCGGGCTCTCAGGGAAGCCAAGGAGACCCTGCAGAAGCTGCCCGAGGAGATCCAAAGAGACATCCTACTGGAGAAGAAGAAGGTGGCCCAGGACCAGCTGCGTGACAAGGCGCCGTTCAGAGGCCTGCCCCCGGTGGACTTCGTGCCCCCAATCGGGGTGGAGAGCCGGGAGCCCGCCGACGCCGCCATCCGCGAGAAAAGGGCAAAGATCAAAGAG___ATGATGAAACATGCTTGGAATAATTATAAAGGTTATGCCTGGGGATTAAATGAACTCAAACCTATATCAAAAGGAGGCCATTCAAGCAGTTTGTTTG___GTAACATCAAAGGAGCAACTATAGTAGATGCCCTGGATACACTTTTTATTATGGAAATGAAACATGAATTTGAAGAAGCAAAATCATGGGTTGAAGAAAATTTAGATTTTAATGTG___AATGCTGAAATTTCTGTCTTTGAAGTAAATATACGCTTTGTTGGTGGACTACTCTCAGCCTACTATCTGTCTGGAGAAGAG___ATTTTTCGAAAGAAAGCAGTGGAACTTGGGGTAAAATTGCTACCTGCATTTCATACTCCCTCTGGAATACCTTGGGCATTGCTGAATATGAAAAG___TGGTATTGGAAGGAACTGGCCCTGGGCCTCTGGAGGCAGCAGTATTCTGGCAGAATTTGGAACCCTGCATTTGGAGTTTATGCACTTGAGCCACTTATCAGGAAACCCCATCTTTGCTGAAAAG___GTAATGAATATTCGAACAGTACTGAACAAACTGGAAAAACCACAAGGCCTTTATCCTA)ACTATCTGAATCCCAGTAGTGGACAGTGGGGTCAAC|ACAAAGCTCAGAATCTTAGGAGACTTACTCTGGACCTCAGGATATCTCATCACGAGCAAAATTCCCCAGTGCAATGTGGAGGCTGTGGTCTCTGTACCTGTCGTGAACAGATTATTAACAAGTGTCACCAACTTTTTATCACTGAAATAGTCAGCAAATGTGTCATTCTCCTGAAAGAGTAAAATGAACCACCG MPVGGLLPLFSSPAGGVLGGGLGGGGGRKGSGPAALRLTEKFVLLLVFSAFITLCFGAIFFLPDSSKLLSGVLFHSSPALQPAADHKPGPGARAEDAAEGRARRREEGAPGDPEAALEDNLARIRENHERALREAKETLQKLPEEIQRDILLEKKKVAQDQLRDKAPFRGLPPVDFVPPIGVESREPADAAIREKRAKIKEMMKHAWNNYKGYAWGLNELKPISKGGHSSSLFGNIKGATIVDALDTLFIMEMKHEFEEAKSWVEENLDFNVNAEISVFEVNIRFVGGLLSAYYLSGEEIFRKKAVELGVKLLPAFHTPSGIPWALLNMKSGIGRNWPWASGGSSILAEFGTLHLEFMHLSHLSGNPIFAEKVMNIRTVLNKLEKPQGLYPNYLNPSSGQWGQ|hkaqnlrrltldlrishheqnspvqcggcglctcreqiinkchqlfiteivskcvillke* 18BR007 ENSG00000106803.10 ENSG00000255815.3(11944),ENSG00000271086.7(36855) +/+ ./+ chr9:99222643 chr9:99318555 CDS/splice-site intergenic deletion/read-through 26 7 1 382 45 high out-of-frame . . . . ENSG00000106803.10 . ENST00000223641.5 . downstream upstream duplicates(1) ^AGTCTCGCCAGCTGCCGGTCTTTCGGGGGCTCCGTAACTTTCTATCCGTCCGCGTCAGCGCCTTGCCACCCTCATCTCCAATATG___CCTGGTCCGACCCCCAGTGGCACTAACGTGGGATCCTCAGGGCGCTCTCCCAGCAAAGCAGTGGCCGCCCGGGCGGCGGGATCCACTGTCCGGCAGAG|AATGAAGAGGACCCTGAAGCCCTAGGAGACAAGAACAGAACCACAAGATGGAAAGAGTTTGGGTTCCCAGAAGGTGGCCCACCAACTGTCAATATCTGTGTTGGATGTTCACCTGAATGAAAAAACTTTTATTGTATTGAACCACTGGAGTTTGGGAATTTGTTACAGCTGCTAGCATTACCTTGTTTATTTTGTTGTTGGTAAACTGGTAAATCTATAACTAATAAATAACAG MPGPTPSGTNVGSSGRSPSKAVAARAAGSTVRQr|mkrtlkp* 18BR007 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 5 0 15 17 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismatches(1) CTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGA?GAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCC?TGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGAC(GACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 18BR007 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 11 0 22 74 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),inconsistently_clipped(1),mismappers(1),mismatches(1) CCGGCGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGCTGTTtCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTACGACGCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGC?GCGGCGGCGGCGGCGGCGGCGGCGGCGGCaGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTG(AGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 18BR007 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 6 6 0 117 27 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTT)GCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 18BR007 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 4 0 20 22 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(1),inconsistently_clipped(1) AGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCC(TCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 18BR007 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 3 8 0 15 17 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream low_entropy(1) CACTGGGCTCGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTC(TGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGATAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 18BR007 ENSG00000287206.1(54594),ENSG00000229155.1(5208) ENSG00000230102.8 ./- -/- chr3:193837352 chr3:194023207 intergenic exon/splice-site duplication 5 2 0 11 6 high . . . . . . ENSG00000230102.8 . ENST00000622169.5 upstream downstream . CTGAAACCTATCCAAAAGCATCCCAGGAGGGCACACTGAGTGCCGCATGGAGCCTGCACCACCATGGGGAGGAAGCAGCCACCGCCTTCCTGAATC|GTCCTTGGAACAGGAGAAAGGGTTGGAAAACAAAGATCACTTTTCTCTGGCCAAATGGAATCACCCAACAAAG(TACCTTCCTGATGGGCCAGCTATTTCAG___ATGATGAAGGTTTAAGAAGCAGCATCATCAGCGAACTGTGTTTTGAAGATTTGAGGGAAGGGCTGACCTCAGGATTTTATACTAG___GAAGGCCCTATCTCAAGTGGCTCTGGTCCATGCAAACAGATGGAAACGGGTGTGGGGAAGCACAGGCCTCCTACTCATGTTAAGAGAGCTGCTCAGAGGCAGGAATCCAGAACCAGGAATGTCCCCAGTGGCTGCCCAAG___TTGCTGACCTCCATAACAGCAGACAAAATTGGAAGCAAGAGTGATTTTGGAGGAGTCACACTTAGATGTTTCCCTTACCTATTTCTGTTCTGGAAATTTAAAAATCTTACTTCTCGTGACAGTCCTACATGAAAAATTAAAAATCACAAGGATTCATGGATGGAAAACTGAGACTCAGAGAATGATCACATTCACATCGTAATAAATCAGCAATAGAGTGAGTGATTGTTCCTTGGTAAGAAATCAACTCTAAACTCAGTTGGAAACCTTTGCCAATATTACTTAACACATGACAATCTGGTGTGACTCATTTTTCTTGACATTATGCAAATAAAGGAAACAAGACTGAGTGGCCTTCTGTCCGGAGAGCAGGAAATGAAGGCTGTCTGGGGCCAC)$ . 18BR007 ENSG00000134909.18 ENSG00000149115.14 -/- -/- chr11:129040928 chr11:57317887 CDS/splice-site CDS/splice-site deletion 5 1 0 32 94 high out-of-frame . PX_domain(100%),Variant_SH3_domain(100%)| . . ENSG00000134909.18 ENSG00000149115.14 ENST00000310343.13 ENST00000358252.8 upstream downstream . ^(ATGGAGACTGAAAGTGAGAGTAGCACTTTAGGGGATGACAGTGTCTTCTGGTTGGAGTCTGAAGTTATAATCCAGGTGACTGACTGTGAAGAGGAAGAAAGGGAAGAGAAGTTCAG___GAAGATGAAGTCCTCAGTACATTCTGAAGAAGATGATTTTGTTCCAGAGCTACATAGAAATGTACACCCTCGAGAGCGGCCTGATTGGGAAGAAACTCTTAGCGCAATG___GCAAGAGGCGCAGATGTTCCAGAGATTCCTGGAGATCTTACTCTTAAGACGTGTGGCAGTACAGCCAGTATGAAGGTTAAGCATGTGAAAAA___GTTACCCTTCACTAAAGGTCACTTTCCGAAGATGGCTGAATGTGCGCATTTCCATTATGAGAATGTTGAGTTCGGCAGCATACAG___CTTTCACTTTCAGAAGAACAGAATGAAGTAATGAAAAATGGCTGTGAATCTAAAGAGCTGGTCTACCTCGTGCAGATTGCTTGTCAG___GGAAAAAGTTGGATTGTTAAAAGAAGTTATGAAGATTTTCGGGTACTTGATAAACATCTTCATCTGTGTATTTATGACCGAAGATTTTCCCAGCTCTCAGAACTTCCCCGTTCTGACACCCTGAAGGACAGTCCAGAG___TCGGTCACTCAGATGCTTATGGCTTACCTGTCACGCCTTTCAGCTATCGCTGGCAACAAGATCAACTGTGGGCCCGCCCTTACCTGGATGGAG___ATTGATAATAAGGGAAATCACCTTTTGGTTCATGAGGAGTCATCCATCAACACTCCTGCTGTCGGTGCTGCCCATGTTATCAAGAGGTACACTGCTCGGGCCCCT)GACGAACTGACCTTAGAG___GTGGGAGACATTGTTTCTGTTATTGACATGCCCCCGAAAGTGTTAAGCACATGGTGGAGAGGCAAGCACGGATTCCAG___GTGGGACTCTTCCCTGGACACTGTGTTGAGTTAATTAACCAAAAAGTTCCCCAGTCAGTGACCAACTCAGTGCCAAAACCAG|GAGCCTTCCTTCCGACCTGGCCTTCAACGGGGACCTGGCTAAGGCAGCCAGCTCGGAGCTACCTGCTGAT___ATTTCCAAGCCCTGGATTCCCTCAAGTCCAGCCCCCTCCTCAGAGAATGGAGGCCCTGCCAGCCCAGGCCTCCCCGCAGAAGCCTCAGGCTCAGGCCCTGGCTCTCCCCATCTTCACCCGCCTGATAAGAGTTCTCCCTGC(CACTCACAGCTTCTGGAAGCCCAGACTCCTGAAGCTTCCCAGGCTTCTCCCTGCCCCGCTGTGACTCCATCAGCTCCAAGTGCAGCCCTGCCTGACGAGGGCTCCCGCCACACCCCCAGCCCGGGGCTCCCTGCCGAGGGGGCTCCAGAGGCCCCCAGACCCAGCAGCCCACCCCCTGAGGTCTTGGAGCCCCATAGCCTGGATCAGCCCCCTGCCACCTCACCCCGGCCCCTGATCGAGGTGGGTGAGTTGCTGGATCTCACTCGGACGTTTCCATCTGGCGGGGAGGAGGAGGCCAAGGGTGACGCACACCTCCGCCCCACCAGCCTGGTTCAGCGCCGATTCTCTGAAGGTGTGCTCCAGTCACCCAGTCAGGACCAGGAGAAGCTGGGGGGCTCGCTGGCTGCCCTGCCCCAAGGCCAGGGGAGCCAGTTGGCCCTGGATCGTCCCTTTGGGGCAGAGTCCAACTGGAGCTTATCACAGTCCTTCGAATGGACCTTCCCCACGAGGCCCTCGGGTCTGGGCGTGTGGCGGCTGGACTCCCCGCCTCCCTCCCCCATCACTGAAGCCAGTGAGGCCGCCGAGGCTGCTGAGGCTGGCAACTTGGCCGTTTCCAGCAGGGAAGAAGGAGTGTCTCAGCAGGGGCAAGGGGCTGGGTCAGCTCCAAGTGGGTCAGGAAGTTCCTGGGTGCAGGGGGATGATCCAAGCATGTCCCTCACCCAGAAGGGCGATGGGGAGAGTCAACCTCAATTCCCAGCTGTTCCCCTTGAGCCCCTGCCTACAACTGAGGGCACACCTGGATTACCTTTGCAGCAGGCAGAGGAGAGATACGAGTCGCAGGAGCCCTTGGCTGGACAGGAGTCCCCTCTCCCCCTGGCTACCAGGGAGGCAGCCTTGCCCATCCTGGAGCCAGTCCTGGGGCAGGAGCAGCCAGCAGCCCCTGACCAGCCCTGTGTTCTCTTTGCTGATGCCCCTGAGCCTGGACAGGCACTGCCTGTTGAGGAGGAGGCCGTGACCCTAGCCCGGGCTGAGACCACCCAAGCCAGGACAGAGGCTCAAGACTTGTGTAGGGCATCCCCCGAGCCTCCAGGCCCTGAAAGCAGCTCCCGCTGGCTGGACGACCTCCTGGCTTCACCACCACCCAGTGGTGGCGGTGCAAGGCGGGGAGCTGGAGCTGAGCTGAAGGACACACAGTCCCCAAGTACCTGCTCTGAG___GGACTCCTTGGCTGGTCCCAGAAAGATCTGCAGAGTGAATTTGGGATCACAGGAGACCCACAGCCCAGCAGTTTCAGTCCTTCCAGCTGGTGTCAAGGTGCTTCTCAGGACTATGGCCTTGGGGGTGCAAGCCCTAGAGGAGACCCAGGTCTCGGAGAGAGGGACTGGACCAGCAAGTATGGGCAAGGAGCAGGGGAAGGGAGCACCAGGGAGTGGGCCAGCAGGTGTGGCATCGGCCAGGAGGAGATGGAGGCCAGCAGCAGCCAAGACCAGAGTAAAGTGTCTGCCCCAGGGGTGCTCACAGCCCAGGACCGGGTAGTTGGAAAGCCAGCCCAGCTTGGCACTCAGCGGAGCCAGGAGGCAGATGTTCAGGACTGGGAGTTCAGAAAGAGGGATTCCCAGGGCACTTACTCCAGCCGGGATGCAGAACTCCAGGACCAGGAATTCGGAAAGAGAGATTCACTGGGTACCTACAGTAGTCGAGATGTAAGCCTTGGGGACTGGGAATTTGGGAAGAGAGATTCTCTGGGTGCTTATGCCAGCCAAGATGCCAACGAGCAGGGCCAAGATTTGGGGAAGAGGGACCACCATGGTAGGTACAGCAGCCAGGATGCCGATGAGCAGGACTGGGAGTTTCAGAAGAGAGATGTGTCACTCGGCACCTATGGCAGCCGGGCTGCGGAGCCACAGGAACAGGAGTTTGGGAAGAGCGCTTGGATAAGGGACTACAGCAGTGGTGGCAGCTCCAGGACCCTTGACGCCCAGGACAGAAGCTTTGGAACGAGACCCCTGAGCTCTGGGTTCAGCCCCGAGGAAGCCCAGCAACAGGATGAGGAATTTGAGAAGAAGATTCCAAGTGTGGAAGACAGCCTTGGAGAGGGCAGCAGGGATGCTGGCCGGCCAGGAGAGAGAGGATCCGGGGGCTTGTTCAGTCCTAGCACTGCCCACGTGCCGGATGGGGCACTCGGGCAGAGAGACCAGAGCAGCTGGCAAAACAGTGATGCTAGCCAGGAGGTGGGAGGGCATCAGGAGAGACAGCAGGCAGGGGCTCAGGGCCCTGGCAGTGCTGACCTGGAAGATGGGGAGATGGGAAAGCGAGGCTGGGTCGGTGAGTTTAGCCTCAGTGTTGGCCCCCAGCGAGAGGCAGCATTTAGCCCAGGGCAGCAGGACTGGAGCCGGGACTTCTGCATCGAGGCCAGTGAGAGGAGCTATCAGTTTGGCATCATTGGCAACGACAGAGTGAGTGGTGCTGGCTTTAGCCCTTCTAGCAAGATGGAAGGTGGTCACTTTGTGCCTCCTGGGAAGACCACAGCTGGCTCGGTGGACTGGACTGACCAGCTGGGTCTCAGGAACTTGGAAGTGTCCAGCTGTGTGGGTTCTGGGGGCTCGAGCGAGGCCAGGGAGAGTGCCGTGGGACAGATGGGCTGGTCAGGTGGCCTGAGCTTGAGAGACATGAACCTGACCGGCTGTTTGGAAAGTGGAGGGTCTGAAGAGCCGGGGGGAATCGGAGTTGGGGAGAAGGACTGGACTTCTGATGTTAATGTGAAGAGCAAAGATTTGGCTGAGGTCGGGGAGGGAGGAGGCCACAGCCAGGCCAGAGAGAGTGGCGTGGGGCAGACTGACTGGTCAGGTGTGGAGGCCGGAGAGTTCCTTAAATCAAGGGAGCGTGGAGTTGGACAGGCAGACTGGACACCTGACCTTGGGCTGAGAAACATGGCCCCAGGGGCAGTCTGCAGTCCTGGAGAGTCCAAAGAGCTTGGGGTGGGCCAGATGGACTGGGGTAACAATCTGGGCCTGAGGGATTTGGAGGTGACCTGTGACCCAGACTCTGGAGGTTCTCAGGGGCTACGGGGATGTGGAGTGGGGCAGATGGACTGGACCCAGGACTTGGCGCCCCAGAATGTGGAGCTCTTTGGGGCTCCAAGTGAAGCCAGGGAGCATGGGGTGGGCGGGGTGAGCCAGTGCCCAGAGCCCGGCCTGAGGCACAATGGCAGCTTGTCTCCTGGCCTGGAGGCCAGAGACCCCTTGGAGGCCAGGGAGCTGGGGGTTGGTGAGACAAGTGGGCCAGAGACCCAGGGTGAAGATTACTCCTCGTCTTCCTTGGAGCCACACCCTGCAGACCCTGGAATGGAGACAGGAGAAGCCCTCAGCTTCGGAGCAAG___CCCTGGCAGGTGCCCGGCCCGCCCCCCACCCTCCGGCTCCCAGGGCCTGCTGGAGGAGATGCTGGCAGCCAGCAGCTCCAAGGCGGTGGCTCGGAGGGAGTCAGCGGCCTCGGGCCTTGGGGGCCTGTTGGAGGAGGAAGGAGCCGGGGCAGGTGCTGCCCAAGAGGAGGTGCTGGAGCCTGGCAGGGACTCTCCACCCTCCTGGAGGCCGCAGCCTGATGGTGAGGCCAGCCAGACAGAAGACGTGGATGGCACCTGGGGCTCTTCAGCAGCCAGGTGGAGCGATCAGGGGCCAGCACAGACTTCTCGGCGACCCTCCCAAGGCCCTCCTGCCAGATCCCCCAGTCAGGACTTCTCCTTCATTGAG___GACACCGAGATCCTCGACAGTGCCATGTATCGGAGCCGTGCCAACTTGGGGCGCAAGCGTGGGCACCGGGCCCCGGTCATTCGGCCTGGGGGTACCTTGGGCCTGTCGGAGGCAGCAGACTCGGATGCACACCTGTTCCAGGACTCTACAG___AGCCACGGGCATCTCGGGTGCCATCTTCAGATGAAGAGGTAGTGGAGGAACCTCAGAGCCGCCGGACACGGATGTCGTTGGGCACCAAGGGGCTGAAAGTCAACCTCTTTCCTGGCCTGAGCCCCTCAGCCCTGAAG___GCCAAGCTGCGCCCCCGGAATCGCTCAGCTGAGGAGGGAGAGCTGGCTGAGAGCAAGTCGAGCCAGAAGGAGTCCGCGGTCCAGCGTTCGAAATCCTGCAAGGTCCCAGGACTGGGAAAGCCCCTCACGTTACCTCCCAAGCCAGAGAAATCCTCAGG___GTCAGAAGGATCGTCGCCCAACTGGCTTCAAGCCCTGAAACTGAAGAAGAAGAAGGTCTGAGAAGTCACTGAG___GTTCTTCCCACCTGGCAGTCTCAGGCAGTGCCCATTCCTGTGGGGTCCCTGGGTGAGGAGACGGCTGGAGCCCCACCATGCCCCAGGCTGCAGCCTCTGTCCCCTCCACCTCTGAGGAGCGTCTGGGGAGGCACATTTATGCACTTTGTATCACCCTCCGAACTCCCCCCACACCTTCCCTTCCCTGGATTTCATCACTAGTGGTTGAAGGTTTTGTCCCTTCCTCTCCTCCTTCCCTCTCCCTCTCTGCTTCCTCCTCCAGCCTCCCTTGGGTTTTCTTTTGATACCAATTTATAGCATTTTTTATAAAAGCCTTTGATTTTTATAATGGGTGGGACTGTATCCCTGCCTCACCCCAGGTCTCCGTCTGCCCCGCCAGGTACCCCACAGAGACCAATGACATTTTGCCACTTGAAACAATAAATAAAGTTTTTTGGGAA)$ METESESSTLGDDSVFWLESEVIIQVTDCEEEEREEKFRKMKSSVHSEEDDFVPELHRNVHPRERPDWEETLSAMARGADVPEIPGDLTLKTCGSTASMKVKHVKKLPFTKGHFPKMAECAHFHYENVEFGSIQLSLSEEQNEVMKNGCESKELVYLVQIACQGKSWIVKRSYEDFRVLDKHLHLCIYDRRFSQLSELPRSDTLKDSPESVTQMLMAYLSRLSAIAGNKINCGPALTWMEIDNKGNHLLVHEESSINTPAVGAAHVIKRYTARAPDELTLEVGDIVSVIDMPPKVLSTWWRGKHGFQVGLFPGHCVELINQKVPQSVTNSVPKP|gaflptwpstgtwlrqparsyllifpspgfpqvqpppqrmealpaqaspqkpqaqalalpiftrlirvlpathsfwkprllklprllpapl* 18BR007 ENSG00000124177.15 ENSG00000252955.1(31766),ENSG00000210839.1(29679) -/- ./+ chr20:41618340 chr4:72997069 5'UTR/splice-site intergenic translocation 1 4 0 18 31 high . . . . . ENSG00000124177.15 . ENST00000373233.8 . upstream upstream . ^AGCTGTTTGTATTTTGGCTGCTGCAGGAGCCATTTTAG|AGCCATCATGTACGAGCAGAATGCATTCcGGGGCAAAGGGGAAAATGGAAAAGTTCAGAAATCCATCTAGAAGAAATAGGATCCG___TTGGTTGAATCCATACATGCAGAACCCACAGATATGGAAAGCCAAATGTGTATCCAGGAGTATTATCTGTATGGGCC . 18BR007 ENSG00000120526.11 ENSG00000253901.1 -/- -/+ chr8:109322309 chr8:91771847 CDS/splice-site intron inversion/5'-5' 1 3 0 26 11 high out-of-frame . . . . ENSG00000120526.11 ENSG00000253901.1 ENST00000239690.9 . upstream upstream . ^(AGTCTCTGTGCGAGGCGTGAAGCGCGGACCTTTCAACAAGGGCTTTATTAATTCTCACGCTGCGGCCCTGGAAAGCGATGGAGGTGGCGGCTAATTGCTCCCTACGGGTGAAGAGACCTCTGTTGGATCCCCGCTTCGAGGGTTACAAGCTCTCTCTTGAGCCGCTGCCTTGTTACCAGCTGGAGCTTGACGCAG___CTGTGGCAGAGGTAAAACTTCGAGATGATCAATATACACTGGAACA)CATGCATGCTTTTGGAATGTATAATTACCTGCACTGTGATTCATGGTATCAAGACAGTGTCTACTATATTGATACCCTTGGAAGAATTATGAATTTAACAGTAATGCTG|ATCTGCTCTGCACCCTTTCCATCTGTCCTCAGCCAGGAAAACTGACCTATAAGGACCATATCACCTGGGTTCCTGTGACTTCTGGCTTCGAGTTGAAGACCGTCAATGGGGAACATGATTAGCAGACTGGGGCAGAGGACAAGGAAGAAGAGTAAGGGTGGG MEVAANCSLRVKRPLLDPRFEGYKLSLEPLPCYQLELDAAVAEVKLRDDQYTLEHMHAFGMYNYLHCDSWYQDSVYYIDTLGRIMNLTVML|icsapfpsvlsqen* 18BR007 ENSG00000020922.13 ENSG00000197702.14 -/- +/+ chr11:94490833 chr11:12517610 CDS/splice-site CDS/splice-site inversion 2 1 0 52 88 high in-frame . |Calponin_homology_(CH)_domain(100%) . . ENSG00000020922.13 ENSG00000197702.14 ENST00000323929.8 ENST00000334956.15 upstream upstream . ^(GGACGCCGTTCTCTCCCGCGGAATTCAGGTTTACGGCCCTGCGGGTTCTCAGAG___AATTTCTAGAATTTGGAATCGAGTGCATTTTCTGACATTTGAGTACAGTACCCAGGGGTTCTTGGAGAAGAACCTGGTCCCAGAGGAGCTTGACTGACCATAAAAATGAGTACTGCAGATGCACT___)TGATGATGAAAACACATTTAAAATATTAGTTGCAACAGATATTCATCTTGGATTTATGGAGAAAGATGCAGTCAGAGGAAATGATACGTTTGTAACACTCGATGAAATTTTAAGACTTGCCCAGGAAAATGAA|TTTGCAGATGGGGTGTACCTGGTGCTGCTCATGGGGCTCCTGGAGGGCTACTTTGTGCCCCTGCACAGCTTCTTCCTGACCCCGGACAGCTTTGAACAGAAG___GTCTTGAATGTCTCCTTTGCCTTTGAGCTCATGCAAGATGGAGGGTTGGAAAAGCCAAAACCGCGG(CCAGAAG___ACATAGTCAACTGTGACCTGAAATCTACACTACGAGTGTTGTACAACCTCTTCACCAAGTACCGTAACGTGGAGTGAGGGGCTGCCCTGGGCCCACCACTGCCCAAGAGTTCTTGCTGTTGGCGTACTGGACCCTCCTCCGAACTGCCTTACCCTGCTTATTCCTGTCTCTTGCACTGTGCTCTCCCACAAGTCCAGCTGCAACCCAGAGATAGTGGAAACTGAAATTAGGAAGGAAATCATCAATAACTCAGTGGGCTGACCCATCCCTCCCAGGCGCTGGGGACCAACCTAGCAATGAAGGTTGGGAAGGTTGTTCCCTTCCCGGTGCCAGGTCCAGATTTCCCTCCATGATTTGGGAACCAGCTTAGGCAAAAGAGTCCCCACAAGATGAAAATAAAGATCCTAGTTACCATTCAAAGGATGCTAACTGTGTGTCAGGCCCCACACTAAGTGCTCTGCTCTGATATACTCAAGGCCATTAATCTTCAGGACTCCCATTGACGTAGGTGTTTCATTCCCCTTTTACAGATGAGGAAACTAAGGCTTGGAGGTTAAATGACTTGCCAGAAGTTGGAATTTTTTTCCTCTTTGAACATAACCTCTCCCTTCTCCCTAAAGGTAACCACTATTCTGAGTCCAATCATCAAGGTTTTGCTTTTCTTTTTAGCTAAGTATGCATTCCTCAATAGTAGACAGTACAACATGTTTATAACAAGCCAATTACATTATGTTCTTTGCATGTTCTAAAGTTGTGTATGTGTGTGCACATCTGAGCACGTGCACATGTACACCTGAGCCAAAAACACGAGAACCCACTGATCTCACCACTGGGGCAAGCTAGGTCAGAGCTTAGTGATTCACACTGAAATTGGCAAATTGGATTTAACCCAATTAATAGTGTGTGTGTGGCAGGAGTCATGTCCCTCACATCCTTTGTACAAATGAAAATTACTCTTAATTCCTTCAGATTTATAATAACTCTGTACTTTGGTTTCAGGGTGACATTTGGGAAGGATTTTGTTTAGAATTAATGGAGTGGCACATTTTGCAGCCTTTTTGCTTGATTGCATGTAATGGAAATGCCCTATATTTTCCTGCAAAATAAGTACTAAATTCATTATCGTTAAGCAAATGTACAATATGCTCAGGCACCGCAGAGAGCTGGGCACGGGCCCATGTGAGCATCACTTTGGAAGTAGGGCTCTTCAACAGGGACCCTTGAACTTTAAAGAAAGGAACTTCTTTTTGCCTTCTAATTGATCATTTAGACTATTCTGGCTAAGTCTGCCCACATGTAATTACCGGCTAATTCAAGCGAGGAAAAATGTAAGTCATTTAGACCAAAGCCAAGCAGTTTCTTTGCGTGGGTTACTCAAGGGCTTGTGGTTACTTGTATCTCCTCTATGTGAACTTGACTTTGAAAGACAGAGCTCTAGTGTGCCAGCCTGCTAAGTCCTGTAAGAATAGGGAAGGGCGGAGGGGGGTGGGCAGTGACTAGGGGACGAGAAGCATGGGGAAAATATTTGCACTCTAAACATACAGAGATAGAGGTGGGGCTTGTGGTACTTAACACTTGTAGCCATCAACTGACTGAGACCTTGGGCTAAATAATCAATTGTGCTGATATTACATCTCGTTATGGAATGTTCCTAAATATGCCAGGTAGACACCAGCCCAAGTACCCTCCTCCAGAAGTCTGTGACTACCTTGTCACTACTTTAGGCCCATTCCACAAAGCCCATCTCTGGTTTGAGAATTCATTTTGATCTGTATCTACACCACCCAAAGTTAGGCCTCCTATAATGTCCAAAACATTCCTTTCAGCCTTTTTATTTCTTACTGTACTGTCTCTTACTGTACTGTCTATCTGCAGTAATTGAGGACCCATAAAATTTAGATAACTACATGTCTTTGCTCTTAGAATTGTCACTCAGCATAATGAGCATTTAACATACAAAGGCAATGTACTGTTTTGTGTTGATCTATGTAAAAGAATACAATTCTTTTTTACATAATTAGTGAAATTTTATTTTTTATTAGGAAACACTAAATAGTGTAATATTTCTTTTGCTTTTAAAAAAATTCCTGGTAGCAAATCAAGATAAATAATTGCTTCATTTTCTTGAGCAATACTGAAGCAGGATGAAGTAAGAGGAATGCATTCATTTAAACATGCTTTGCTTTATGAATTTTGTCTCTTTTTTGGTCTCTTTTTCTTATATTCAAGTTACAAATGTACAAGTATCCTTACTAAGAGTGCTCCTTTTGTATTTTACATATATACAGTATGAAAATACATTGGAACACTAGGAAAGTTTTTAAATAACAGTTCTAATTTATCAGAAAATTGTGTTTTGGGATTGAGTTCTTTGTCTCAGCCCAGAATCCCAGGTCCTGGGCCTGGTTTTCTAATGCTGTCATCTCAGTTCGATATTTTACTTTAGAACCTGGAATCTCCTACTTAATATATGACCATGACTTTGAAAGGCAAAAGAGGAATCAAGAATAAATAAAACAAACTTAATCTTCATCTTTAAAAAAAAGAAAAAAGAAACCAAAATGAGAATCAACACTTCATAGGCTCACTGGGTTTTCTTTTCTTTTCTGTTAATTTAAACTCAGTTATTTTTAATGCTTAATACATACATGGTGCAAAATTTAAAAAGCGCAAATAGGTATCTAGTGGAAAACCTAAGCCTCCCTCTCTCCTCCGGCACCCATTACCTCTCCCTGGAGGCAACTGTTTTGATCCATTTCTTACACACACTGCCAGAGATACTCTAGGCATGTAAAGCACAAACATACATATAAAATCTGCGGGCTTCAAAAAATATAAGTAGGATGTCATCTATACTGTCATACACTTTGTTTTTTATCACTTAATGTTATATCTTGGATATTGTATTACCCTGGGTATTAAAAAGAACTCCTTTCACATTTTAAAATAACAATCTGAGCACTTCATAAATCCAAATGCGTATCTCCAGTCTGCTCGAGCTAGGAAAGGAAAAAAGCCCTAGCCGAAGGAGGAAAGGCTGCCTAGACAATGATTTCAAAAGTAGAGTCTAAAACCTATGGGGTGCAGGACCAGAGGCTGGGGCACATTATCAGAGGCATCCTCATGTGCCTCGAACCGAATGTTTTTAAGTCCTCTTTTGGAACCTTATGGTGAATTGTATGCAGATTGATGAAGGTTTCATTTTTATATATTACCAGGACTACGAATTTGTAATCCACTAAGCATCACAAAGGTTACTACATACGCTATAATACTGTACTATAAAGTCTAGCTGCCAGCAATGCAGTGCTCGCCTGCTATATTAGAAGGCTCCAGTTTCACATGTGCAGGCACAGAGATGACATTTCCCGATCTGGGAGAAGGCTTCTTTATCAGCACATCATCAGTGTTGCCTCGAGTTGGTTGCAATTTTCAATTGCTGCTATTGGTGCTTTTTAATTATGAATTACTGTTAGCTTGCATTATCATCAGTTTGTTTTGTTGTGGGTTGCTTGGTTAACCCTACAGAGTATACTTGAAGCTTATTTGCATCAACAGTATTCTGGAGCTGTAATTTTTCAATAACTAGACTCTGAGACATGTATACATTGTGGTTCAAATAGGAATCATCCATAGTCCAGTGCTAGAACAAATGTATACATAATCCACTCCCCACAAATTATCACTCATTTATTTTTCCACTGGAAAATAAGACTAGATGGAGTCGGTAGGTGAAACAGTTTTGCCGTGCCTAAGTGGAGGCTGATCAAAACTAATTTGAGATCCGCTGCCTTTAATAGAGCTCCACCTCAGGAATCTTACCTTTATAATACATCCTAGATAGGCAAGAGGGATATGTCCTGAAATCTTCACTAATTCCAAGATTGCGTGTCATTTCCCCCAAAAATTTGCTTAACTCTATTGGAAAATCCAAGAGAATTGCTGCAGCTGCTGAAAACAAGAGAGCTGCATTAAGCTGCAAGGCCGGGTAGGGTAGGTAGACTGACTCACCACCTATGGGACCTGCCTCCACACATCAGCTTCCCAAATACTTGCAGATTTGGGTCTTACCAAAAGAAAAGTCAGTATGAGTTACTCACAATCCTAACTACAAAGGCTACATTTACAAATACCAGAGTTTCGACTGTGTTTTTACTCTCTGCTCCCTGAAAACTGTAACCCCAGGCTAGCTCCAAACTCTGCTTATAGCCCATGCTTTACTACAGTGGTGGTCGCATATGTGAACGTGTGCATGCGTGTTCACGTGTTCATGACAACAGCAATGCAGCCATGAGGGTGCTGCCCCCAAACCAAGCCTGATGACCTTGAGAACCTCAGGCTTCCCAGTAGGATCCTGCAAGAAAGCATCTCTTAAAAATAAATTCTACAGGATATTAGTAAATGTTAGATGAAAAAAAAAGTCACGTTTAAATATGTTTAGGAAACATGAGGTGAAGAAAGTTAGCTTACTGACGCTTTTTGTTTTCTAGTTGGAGCGCACCTCAGAGTCCCCTACATAATGCGTATTAGGACTTTCTAAGGGAAGACGGGGTACGATGGGTCCCAATCTTGTTTGATCACAGGATGTATCTGTCCCCTGAGAAATTTCTAGGATGAGTACTCTGAACTCAGGACTTCATTTAGTCATATATTCGGCAAGTATGTGTTGAGTGCAGCATGTCCAAGGGTGAGTGAGAGATTATAGCTAGCAGGGGAGACAGATGAAAAATAACTATGAATCGACGTTAGTTACAAATTGTGACTGTCGCGATGGAGAAGTACTAAAATCTATGAAAGAGTTCTAATGTAGATTTAAGGTCATGAGAAGTCTCCGGCAAAGTGGCATTTTAAAGTAATCCCTCAGTCGTGGAGCTACTCCAATGAGAAGCCTGCCACTCCAGGGCGCACCACGGAGGAGGATCCCCAGACAAGAAGACCTGGCTCCCCAGAGGAGTGCGGAAAGCCAGCATGGCTAGAGGACACAGAATGAGGGAGAAGACGGATCCGATCGCAGGCATCGGGAGTGCTGATTTTTCTCCTTTGAAAAACAGGTTGCCATCTACCTTTTTAAATGTCCCACTGTGTAGGAAAACTCTGGGGAAAGCTACGTCAGCAATATGGAGTCTGGGGTTGCCTTTCTCATGTCATACCATGGTCCTGGCTGGGGAGCGGAGGAGACCAGGAGAGGAGATCAGACCTCTGCCCACCCCAACACCAATCTGGTCTTAGCAACCTCTGGGCATCCCATAGCTCCTCCTAACCTGCTGCTGCTGATGGACAGGAACTCCTGGACTACCCCCAGCCTCTCCACAATGTGTCCTGAGAAGAGCTAGGGGAACTGGACAGAGTGGACGAGGCTGCATGTGTGGAGGGAATGAAATAAGGGGCCTACCAGGCCAGAACGCTGATCCATGGAGACCAGTGCTTCCAGCCCTCTCACCTCGGAGGAGGACTCCTGTTTTACCAACGGCAGGAGCAGGAATCCCACCATTCAGCCTGTGGGCTTGACAAACTATAAGCAAGCCTCCTGGATGTGGAATAATACATTTTCAAAATTCATACTAATCAGCATGAACTATAACTGCTCCAATGCCCACCACATTATATAAAATCTACCAAAAGGGGGTCACTTAATGTTTCACAATGTTTGGTGAAACAACTTTCATATGAAAGTACGGTTGATCCTTGAATGATATGGGCACCGACCCCTGAGCAGCTGAAAATTTGCATGTAACTTGACTCCCCCAAAACGTAACTATAATACTAATAGCCTTACTGAACACGGTCAATTAACACATAGCTAGTATGTTATGTGCATTATATACTATATCCTTACCATACGGTAAGCTAGAGAAAAAATGTTACTAAGAAAAACATAAGCAAGAGAAAATATATTTACTATTAAGTGAAAGCAGGTCATCATAAAGTCCTCATCCTCATGGTCATCACATTGAGTAGGCGGAGGAGGAGGAGGAGGAGGAGGAGTAGGGGTTGGTCTTGCTGTCTGAGGGGTGGCAGAGGCAGAAAAAAAATCCATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGACAGATCACAAGGTCAGGAGATTGAGACTATCCTGGCTAATATGGTGAAACCCCGTCTGTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCAGGGGGCTGAGGCAGAAGTATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGCATCACTGCACTCAAGCCTGGGCAACAGAGCAAGACTGCGTCTCAAAAAAACAAAACAAAACAAAACAAAAATCCATGAACAAGTGGACCTGCCCAGTTCAAATCATTGTTGTTCAAGGGTCAATTGTATATTATTTTCACTGGAAGTTTTGAAATTCCAGAAATATGCTTGGAAATCCCCGCTTGAAATCTCCTTGGTTGGAAACCAGTCCAGTGGGTGACTGGCCCAGAATGATGCTTCTCCTCGGTGGACCCCCTGGGCTGAGCAGCCTGTGTTCCTGCCTCAACTCCCCTGAACCCTCCTGAACTTTCTACACACATGTGGGCACTGGCTTTGATACTGGCATTTGGAAGGGCACTTGGGAAATTCAGAGAAGTACCCATTATTAAGATAAATGATGTTTTATCAATGAAGCAGACTTTTCATTTCTTTTTATTGATCTTCATGTTTTCACATCTTGAGATGCAATTTGTTAGCACAGGCTGTCATTCCAAGACACACAAATGTCATTAAGGCAACCGCTTAAAGGAGTGTGATATTTTATTGAGGTAGACAGGACAATAGATAAATATTTAATCTGTTACATGTTTGCTCTGTGTGGAGCCAGGGTTGGGGCTGCACAACTCTCTGGCTGCTATGTGTCTTCCTGGAAACCCTGTCAAAGGCCTTACCGCCTGCCTGGAGAAACACAGTGCCTGCCCTTGGCAAATATATGTTGGTGTATCTGAAAAACAGCTCCTGGAAGCTTTTTCTCATTCAGGCTTTAGGGGTTACCCCATCTTTCCTTATGTGTGTAATATTGGAGAATGTACACTCTCACTGAACTGGGGATGTTTGACTTAAAATGATGGACAATAAGATAGTGAGCAGTAAGTGTGCTCTAGGCTAGGCTACGAGAGGCCATGAGCTCCTCATCTCTTCTCTGTTCTGAGCTCTCTGATCCACTGCACTTGGGGCAGGGGGTGCATTCTCTGTGCCTCTCCTGAGTCTACTTTCTGCATCATTGGTTCTCCCAGCTCACTTCCATAATGTCCTCCTAGGCTGCATTGGAATTGTGTGTTGTCTAGACCCATGGCCAAGACTGTCATTGCCTGTGAGGGAGACCAAGCTCACCACCAAGGGCTTTTGCCAGATTGCTTTCATTTACAGAATTTGCCCATTCATGTGTCTTTGTGTTTATGGATTAAATGGCTTTCTGACCAGCATCCCTTTGGTGTGCTTTGTCAATAAGA)$ MSTADALDDENTFKILVATDIHLGFMEKDAVRGNDTFVTLDEILRLAQENE|FADGVYLVLLMGLLEGYFVPLHSFFLTPDSFEQKVLNVSFAFELMQDGGLEKPKPRPEDIVNCDLKSTLRVLYNLFTKYRNVE* 18BR007 ENSG00000004534.15 ENSG00000137275.14 +/+ +/+ chr3:49975392 chr6:3077779 CDS/splice-site CDS/splice-site translocation 1 2 0 80 79 high out-of-frame . |Death_domain(100%),Protein_kinase_domain(100%),RIP_homotypic_interaction_motif(100%) . . ENSG00000004534.15 ENSG00000137275.14 ENST00000443081.5 ENST00000259808.9 downstream upstream . ^(AGTAAGAGTCTGCGGGACCGGCAGCTGTACTTCATCTCCCAGCGGGCCGAGCGCTGAAGGCAGCGGCGCGGCGCCTTTGTGGTAGCAGTGGCCCCGCGCGGAGGAAGTTCCGGTGTCCGCGGCGCTGGGTCGGTGGCGGAGGCTGAGGAGAAGGAGGAGCGGGCCGTGGAGGCTTCGCCGCCTAG___GTACTGCTATAACCAGAATTTGGTAGAAAAAGGATTTACTTGTTGGGGCCCTCTTGATAAAAAGAGATGTGGGGGGATTCTCGACCTGCTAACAGAACTGGACCTTTTCG___GACTGGGTGAAAGCTTTTTCTGCAGCAGTCATGTTGAAAACCTTGTGTTGACTTTCCTCGTGTTCTGAAATGGGAGCATAAAAGTTTACTCCGCCACTTCGTCTTAAAATAGCAAAACTTTGCTGTTTTCTGCAGATCTAGGACCTTGTTACAGAACTCTGCCAAAAAAAAAATGTTTACAGAAGAATGTGCTGTGATTAGAGAAGAATATGCTGGTGTGTAGATTTCAAACTCTCTGGACAATATGAATAACACTGTCTTTGTTTCTACAGTGGGAGCCAAGAAGAAAGGTTTGCTCCCGGGTGGAACAGGGATTATCCTCCTCCTCCCCTTAAGAGTCATGCTCAAGAGAGACACTCTGGCAACTTTCCTGGCAGAGATTCACTTCCCTTTGATTTCCAGGGGCATTCGGGGCCTCCTTTTGCAAATGTAGAGGAGCATTCTTTCAGCTATGGAGCTAGAGACGGACCGCATGGTGACTATCGAGGAGGGGAGGGACCTGGACATGATTTCAGGGGGGGAGATTTTTCGTCTTCTGATTTCCAGAGCAGAGATTCATCACAGTTGGACTTCAGGGGTAGGGACATACATTCTGGGGATTTTCGGGATAGAGAAGGACCACCTATGGACTATAGGGGTGGAGATGGTACTTCTATGGATTATAGAGGTAGGGAGGCACCTCATATGAACTACAGAGACAGGGATGCTCACGCTGTTGACTTCAGAGGTAGGGATGCTCCTCCATCTGACTTCAGGGGCCGGGGCACTTATGATTTAGATTTTAGAGGCCGGGATGGATCCCATGCAGATTTTAGGGGAAGGGATTTATCAGATTTGGATTTTAGGGCCAGAGAACAGTCCCGTTCTGATTTTAGGAATAGAGATGTATCTGATTTGGACTTTAGAGACAAAGACGGAACACAAGTAGACTTTAGAGGCCGAGGTTCAGGTACTACTGATCTAGACTTTAGGGACAGGGATACGCCACATTCAGATTTCAGAGGTAGACACCGATCTAGGACTGATCAGGATTTTAGGGGCAGAGAGATGGGATCTTGTATGGAATTTAAAGATAGGGAGATGCCCCCTGTGGATCCAAATATTTTGGATTACATTCAGCCCTCTACACAAGATAGAGAACATTCTGGTATGAATGTGAACAGGAGAGAAGAATCCACACATGACCATACGATAGAAAGGCCTGCTTTTGGCATTCAGAAGGGAGAATTTGAGCATTCAGAAACAAGAGAAGGAGAAACACAAGGTGTAGCCTTTGAACATGAGTCTCCAGCAGACTTTCAGAACAGCCAAAGTCCAGTTCAAGACCAAGATAAGTCACAGCTTTCTGGACGTGAAGAGCAGAGTTCAGATGCTGGTCTGTTTAAAGAAGAAGGCGGTCTGGACTTTCTTGGGCGGCAAGACACCGATTACAGAAGCATGGAGTACCGTGATGTGGATCATAGGCTGCCAGGAAGCCAGATGTTTGGCTATGGCCAGAGCAAGTCTTTTCCAGAGGGCAAAACTGCCCGAGATGCCCAACGGGACCTTCAG___)GATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAG___ATTCTTAATGCTTTTCGGACTCCTGATGGCATGCCTGTAAAGAACTTGCAGTTGAAGGAGTATAACACAG|GCACAACGAGGCCCTCTTGGAGGAGGCGAAGATGATGAACAGACTGAGACACAGCCGGGTGGTGAAGCTCCTGGGCGTCATCATAGAGGAAGGGAAGTACTCCCTGGTGATGGAGTACATGGAGAAGGGCAACCTGATGCACGTGCTGAAAGCCGAG___ATGAGTACTCCGCTTTCTGTAAAAGGAAG(GATAATTTTGGAAATCATTGAAGGAATGTGCTACTTACATGGAAAAGGCGTGATACACAAGGACCTGAAGCCTGAAAATATCCTTGTTGATAATGACTTCCACATTAAG___ATCGCAGACCTCGGCCTTGCCTCCTTTAAGATGTGGAGCAAACTGAATAATGAAGAGCACAATGAGCTGAGGGAAGTGGACGGCACCGCTAAGAAGAATGGCGGCACCCTCTACTACATGGCGCCCGAGCACCTGAATGACGTCAACGCAAAGCCCACAGAGAAGTCGGATGTGTACAGCTTTGCTGTAGTACTCTGGGCGATATTTGCAAATAAGGAGCCATATGAAA___ATGCTATCTGTGAGCAGCAGTTGATAATGTGCATAAAATCTGGGAACAGGCCAGATGTGGATGACATCACTGAGTACTGCCCAAGAGAAATTATCAGTCTCATGAAGCTCTGCTGGGAAGCGAATCCGGAAGCTCGGCCGACATTTCCTG___GCATTGAAGAAAAATTTAGGCCTTTTTATTTAAGTCAATTAGAAGAAAGTGTAGAAGAGGACGTGAAGAGTTTAAAG___AAAGAGTATTCAAACGAAAATGCAGTTGTGAAGAGAATGCAGTCTCTTCAACTTGATTGTGTGGCAGTACCTTCAAGCCGGTCAAATTCAG___CCACAGAACAGCCTGGTTCACTGCACAGTTCCCAGGGACTTGGGATGGGTCCTGTGGAGGAGTCCTGGTTTGCTCCTTCCCTGGAGCACCCACAAGAAGAGAATGAGCCCAGCCTGCAGAGTAAACTCCAAGACGAAGCCAACTACCATCTTTATGGCAGCCGCATGGACAGGCAGACGAAACAGCAGCCCAGACAGAATGTGGCTTACAACAGAGAGGAGGAAAGGAGACGCAGGGTCTCCCATGACCCTTTTGCACAGCAAAGACCTTACGAGAATTTTCAGAATACAGAGGGAAAAGGCACTGCTTATTCCAGTGCAGCCAGTCATGGTAATGCAGTGCACCAGCCCTCAGGGCTCACCAGCCAACCTCAAGTACTGTATCAGAACAATGGATTATATAGCTCACATGGCTTTGGAACAAGACCACTGGATCCAGGAACAGCAGGTCCCAGAGTTTGGTACAGGCCAATTCCAAGTCATATGCCTAGTCTGCATAATATCCCAGTGCCTGAGACCAACTATCTAGGAAATACACCCACCATGCCATTCAGCTCCTTGCCACCAACAG___ATGAATCTATAAAATATACCATATACAATAGTACTGGCATTCAGATTGGAGCCTACAATTATATGGAGATTGGTGGGACGAGTTCATCACTACTAGACAGCACAAATACGAACTTCAAAGAAGAGCCAGCTGCTAAGTACCAAGCTATCTTTG___ATAATACCACTAGTCTGACGGATAAACACCTGGACCCAATCAGGGAAAATCTGGGAAAGCACTGGAAAAACTGTGCCCGTAAACTGGGCTTCACACAGTCTCAGATTGATGAAATTGACCATGACTATGAGCGAGATGGACTGAAAGAAAAGGTTTACCAGATGCTCCAAAAGTGGGTGATGAGGGAAGGCATAAAGGGAGCCACGGTGGGGAAGCTGGCCCAGGCGCTCCACCAGTGTTCCAGGATCGACCTTCTGAGCAGCTTGATTTACGTCAGCCAGAACTAACCCTGGATGGGCTACGGCAGCTGAAGTGGACGCCTCACTTAGTGGATAACCCCAGAAAGTTGGCTGCCTCAGAGCATTCAGAATTCTGTCCTCACTGATAGGGGTTCTGTGTCTGCAGAAATTTTGTTTCCTGTACTTCATAGCTGGAGAATGGGGAAAGAAATCTGCAGCAAAGGGGTCTCACTCTGTTGCCAGGCTGGTCTCAAACTTCTGGACTCAAGTGATCCTCCCGCCTCGGCCTTCCAAAGTGCTGGGATATCAGGCACTGAGCCACTGCGCCCAGCCAACAATCCGCTCTGAGGAAAGCGTAAGCAGGAAGACCTCTTAATGGCATAGCACCAATAAAAAAATGACTCCTAGTTGTGTTTGGAAAGGGAGAGAAGAGATGTCTGAGGAAGGTCATGTTCTTTCAGCTTATGGCATTTCCTAGAGTTTTGTTGAAGCAAGAAGAAAAACTCAGAGAATATAAAATCAACTTTTAAAATTGTGTGCTCTCTTCTTCACGTAGGCTCCTGTTAAAAACAAAGTGCAGTCAGATTCTAAGCCCTGTTCAGAGACTTCGTGGATCACAGCTGCAGCTCACCGCCACATCACAGGATCCGTTAACGTTAATACCCAATACTCTGTCAGCCACTGTAGGCTCTAAGAACCACGTGCAGTCTTCAGCCCATTAAATTATCGATTATTTTTTAATGAATTGAATTTATATTGAGTCTTCAAATTAACTGAATGGATTTAAAGGGGTACCAAGGAGGGGGGAAACATCAGAATTTCCCAGGCAGTTGTTGCAAGGAATTGGTACTAACCGTGACTACAACAAAAATTCTTGATTGACTTTTAAAGTTATTTCCTGGCATTCTGGTACCTTCACCCAGCCTGAGTGCCCTGGAGAGGGAACAGGAAATGCTGATCTCTACCCCTGGGTGAGACCAGAACCTCAGGGCTGATACTGTTGAGTGGCTTCCTCGGTTTACTCTGTGTACTGTGAAAGTATTTTCATATTTTTTCTGTGTGCCAGAGTGAAAAAGGACAGCTTCTGAGTGTGGTAATTGTGCCTCTAGCACCCAGCCTTTCAAAGCCCACCTGAAACCTGGGGGTGGATGAAAGAACTAGAATAGAAGACTGAAGCTGGGTAGGCCGCTCAGTGTCCACTGGCATTTTGCTAAACCGACAAGGAAGGCTGTGTGCTTAGCTCTCCCCAGAGGGAGGGCGAGAAGGGTGTGGTGATGGTCAATCTGGCTGTCGGAACAGATTCTGGTGTCTTGGGCTGATAACAGTGTTGTTGATTCTGATTGTGAATCCCCTCAACTCTAGCAGACACATACACACCCCTGAAATGGGGCTGCAGAGCAGGCTGTCTCAGCCTTGCCACTGTCGGCATCTCGGCCTGGGTAATTCTGTTGTGGGGACTGTCCTGTTCCTTGTAGGATGTTTAGTAGCATCCCTGCCCCCACCTACTAGATGCCAGGGGCACTGTTCTCCCCAGCCCCCCGCCCCAGTTGTGACAATAGTCTCTAAACATTGTCAAATGGTCCAAGGAAAGGGGAAAATTGCCCCGGTTGAGAAGAGCACTGCTGTAAAGTAATGAGCCTCGGCTCTCCTGTCTGCACCTGTCCGGTTACTACTTGGCCACCACGCAGCCTTGGCTCCTACAGCCCAAAAGGGAGAATGGAGGGAGGCTCCAGGCTTTGCTGGAGGGGCCTGGGTGAGTTCTGTTTGCTCCTTGTACCACCATCCAAATGGTGTTATCAAATCTCTTAGATTCCAAAGAGGTTGAATAATTAATGTTCAAAGGCAAGAGGGCAAGGCATTTTTTAACACTTTTTAAAATAAAAATTTATACCACAA)$ MDYRGGDGTSMDYRGREAPHMNYRDRDAHAVDFRGRDAPPSDFRGRGTYDLDFRGRDGSHADFRGRDLSDLDFRAREQSRSDFRNRDVSDLDFRDKDGTQVDFRGRGSGTTDLDFRDRDTPHSDFRGRHRSRTDQDFRGREMGSCMEFKDREMPPVDPNILDYIQPSTQDREHSGMNVNRREESTHDHTIERPAFGIQKGEFEHSETREGETQGVAFEHESPADFQNSQSPVQDQDKSQLSGREEQSSDAGLFKEEGGLDFLGRQDTDYRSMEYRDVDHRLPGSQMFGYGQSKSFPEGKTARDAQRDLQDQDYRTGPSEEKPSRLIRLSGVPEDATKEEILNAFRTPDGMPVKNLQLKEYNT|gttrpswrrrr* 18BR007 ENSG00000164756.12(10069),ENSG00000286308.1(78489) ENSG00000164756.12 ./- +/- chr8:117186783 chr8:117173488 intergenic 3'UTR deletion/read-through 27 13 0 56 298 medium . . . . . . ENSG00000164756.12 . . upstream downstream duplicates(2),inconsistently_clipped(3),mismappers(3),mismatches(1) CTCTACCCACTCGGGCATCCTCAGACTCTTAGCTCTATCTCTCCCACTCAGGAAGACTGCCAGACTGTCTGCAGTTCCCTGCCCTGTGACACAGTCTGGACACTTTTTCAACACAATAAACTAGGGAAATTATTGGGCTCACTATTTTGTTACCTGACTCCTGGAAATAACTGTCCTTCATTGACTGACATTCAATGTCTTGAGGGCCATCCCTTCATTGATTTTGTCCACGTTTTATTTGTTCGACATGAAG|GTAAATATCTAAATTATCTGTGGCAACAACTTGGTGGGGTCAACTCGAATGTTTTTGTCGGCTGTTCTTGAAGACTTCTGGGTCTCTACAACCACATTCTTTGGCTGGTGCCAGTGTTTAAGCACTCTG___AAACTGCATAGCAGCATGTTTGAAGGTGGCCTGTCAAATTTGGGAAACTGACGGTGTGACTGAGCTAGTCACAGGGGTCTTCACAGAAAAGGCAGTCGGG . 18BR007 ENSG00000170044.8 ENSG00000144802.11 +/+ +/+ chr3:102232239 chr3:101859318 intron CDS/splice-site duplication 3 3 0 14 534 medium . . . . . ENSG00000170044.8 ENSG00000144802.11 . ENST00000394054.6 downstream upstream . CTACGTGGTTGTTGCAAGCAGATTGCATTGGAAGAATTCTGCTGGTGTTGAAAAGGAAAGGATGAATACTGAAGGCATTTTAAACTTTAGAAG|ATCCGACGTATCCTGAAGGGAAAGTCCATTCAGCAGAGAGCTCCACCGTATTAGCTCCATTAGCTTGGAGCCTGGCTAGCAACACTCACTGTCAGTTAGGCAGTCCTGATGTATCTG(TACATAGACCATTTGCCTTATATTGGCAAATGTAAGTTGTTTCTATGAAACAAACATATTTAGTTCACTATTATATAGTGGGTTATATTAAAAGAAAAGAAGAAAAATATCTAATTTCTCTTGGCAGATTTGCATATTTCATACCCAGGTATCTGGGATCTAGACATCTGAATTTGATCTCAATGGTAACATTGCCTTCAATTAACAGTAGCTTTTGAGTAGGAAAGGACTTTGATTTGTGGCACAAAACATTATTAATATAGCTATTGACAGTTTCAAAGCAGGTAAATTGTAAATGTTTCTTTAAGAAAAAGCATGTGAAAGGAAAAAGGTAAATACAGCATTGAGGCTTCATTTGGCCTTAGTCCCTGGGAGTTACTGGCGTTGGACAGGCTTCAGTCATTGGACTAGATGAAAGGTGTCCATGGTTAGAATTTGATCTTTGCAAACTGTATATAATTGTTATTTTTGTCCTTAAAAATATTGTACATACTTGGTTGTTAACATGGTCATATTTGAAATGTATAAGTCCATAAAATAGAAAAGAACAAGTGAATTGTTGCTATTTAAAAAAATTTTACAATTCTTACTAAGGAGTTTTTATTGTGTAATCACTAAGTCTTTGTAGATAAAGCAGATGGGGAGTTACGGAGTTGTTCCTTTACTGGCTGAAAGATATATTCGAATTGTAAAGATGCTTTTTCTCATGCATTGAAATTATACATTATTTGTAGGGAATTGCATGCTTTTTTTTTTTTTTCTCCCGAGACAGGGTCTTGCTCTGGCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTTCAGCCTTGACTTGGGCTCAAGTGATCCTCCTACCTGAGCCTTCTGAGTAACTGGAACTACAGGTGTGCACTCCTCGCCTGGCTAATTTTTTATTTTTTGTACAGGCAGGATCTTGCCACCTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCATGCCATCTGCCTGCCTTAGTCTCCCAAAATGCTGGGATTACAGGAGTGAGCCACCATGCCCGGCTGGCAGTTGCATGGAAGAGAACACCTCTTTATGGCTTACCCTCTAGAATTTCTAATTTATGTGTTCTGTTGAAATTTTTGTTTTTTTACCTTTATTGAAACAACAAAAAGTCAGTATTGAAACATATCTTCCTGTTTTCTGTTGTCAAATGATGATAATGTGCCATGATGTTTTATATATATCATTCAGAAAAAGTTTTATTTTTTAATAACATTCTATTAACATTATTTTGCTTGCCGCTGGCATGCCTGAGGAATGTATTTGGCTTTGATTACACACTAAGTTTTTGTAATAAATTTGACTCATTAAAAACCTTTTTTTTTTAAAAAAAAAAAAAAAGAAAATCTCATTAGTGAACTTATCTTTGCAGCTGAGTACTTAAATTCTTTTTAAAAAGATACCCTTTGGATTGATCACATTGTTTGACCCAGTATGTCTTGTAGACACGTTAGTTATAATCACCTTGTATCTCTAAATATGGTGTGATATGAACCAGTCCATTCACATTGGAAAAACTGATGGTTTTAAATAAACTAATTCACTAATA)$ . 18BR007 ENSG00000172171.11 ENSG00000196712.18 -/- +/+ chr17:30906168 chr17:31214451 CDS/splice-site CDS/splice-site inversion 0 4 0 18 35 medium out-of-frame . |Divergent_CRAL/TRIO_domain(100%),GTPase-activator_protein_for_Ras-like_GTPase(100%) . . ENSG00000172171.11 ENSG00000196712.18 ENST00000581216.6 ENST00000356175.7 upstream upstream . ^(GTCAATGGAGGAAGAC)TGGACCTACTGATTCAACTTGGAGATGAGCGGGTCTGTCCTCTTCACGGCGGGAG|AGTCTTACATTTAAAGAAAAAGTAACAAGCCTTAAATTTAAAGAAAAACCTACAGACCTGGAGACAAGAAGCTATAAGTATCTTCTCTTGTCCATGGTGAAACTAATTCATGCAGATCCAAAGCTCTTGCTTTGT___AATCCAAGAAAACAGGG(GCCCGAAACCCAAGGCAGTACAGCAGAATTAATTACAGGGCTCGTCCAACTGGTCCCTCAGTCACACATGCCAGAGATTGCTCAGGAAGCAATGGAG___GCTCTGCTGGTTCTTCATCAGTTAGATAGCATTGATTTGTGGAATCCTGATGCTCCTGTAGAAACATTTTGGGAGATTAG___CTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTAGTCATCAAATGCTTAGTAGCACAGAAATTCTCAAGTGGTTGCGGGAAATATTGATCTGCAGGAATAAATTTCTTCTTAAAAATAAG___CAGGCAGATAGAAGTTCCTGTCACTTTCTCCTTTTTTACGGGGTAGGATGTGATATTCCTTCTAGTGGAAATACCAGTCAAATGTCCATGGATCATGAAGAATTACTACGTACTCCTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATG___GATAGTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCCTGTACATGTTTCTGTGGAACCCTGACACTGAAGCTGTTCTGGTTGCCATGTCCTGTTTCCGCCACCTCTGTGAGGAAGCAGATATCCGGTGTGGGGTGGATGAAGTGTCAGTGCATAACCTCTTGCCCAACTATAACACATTCATGGAGTTTGCCTCTGTCAGCAATATGATGTCAACAG___GAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAG___GCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAG___GCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAG___GTTTTATTGACTGATACCAATACTCAATTTGTAGAACAAACCATAGCTATAATGAAGAACTTGCTAGATAATCATACTGAAGGCAGCTCTGAACATCTAGGGCAAGCTAGCATTGAAACAATGATGTTAAATCTGGTCAG___GTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGCAAGGAGAGATGACCTCTCATTTTGCCAAGAGATGAAATTTAG___GAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAG___AGATTTGGACCAGGCAAGCATGGAAGCAGTAGTTTCACTTCTAGCTGGTCTCCCTCTGCAGCCTGAAGAAGGAGATGGTGTGGAATTGATGGAAGCCAAATCACAGTTATTTCTTAA___ATACTTCACATTATTTATGAACCTTTTGAATGACTGCAGTGAAGTTGAAGATGAAAGTGCGCAAACAGGTGGCAGGAAACGTGGCATGTCTCGGAGGCTGGCATCACTGAGGCACTGTACGGTCCTTGCAATGTCAAACTTACTCAATGCCAACGTAGACAGTGGTCTCATGCACTCCATAG___GCTTAGGTTACCACAAGGATCTCCAGACAAGAGCTACATTTATGGAAGTTCTGACAAAAATCCTTCAACAAGGCACAGAATTTGACACACTTGCAGAAACAGTATTGGCTGATCGGTTTGAGAGATTGGTGGAACTGGTCACAATGATGGGTGATCAAGGAGAACTCCCTATAGCGATGGCTCTGGCCAATGTGGTTCCTTGTTCTCAGTGG___GATGAACTAGCTCGAGTTCTGGTTACTCTGTTTGATTCTCGGCATTTACTCTACCAACTGCTCTGGAACATGTTTTCTAAAGAAGTAGAATTGGCAGACTCCATGCAGACTCTCTTCCGAGGCAACAGCTTGGCCAGTAAAATAATGACATTCTGTTTCAAG___GTATATGGTGCTACCTATCTACAAAAACTCCTGGATCCTTTATTACGAATTGTGATCACATCCTCTGATTGGCAACATGTTAGCTTTGAAGTGGATCCTACCAG___GTTAGAACCATCAGAGAGCCTTGAGGAAAACCAGCGGAACCTCCTTCAGATGACTGAAAAGTTCTTCCATGCCATCATCAGTTCCTCCTCAGAATTCCCCCCTCAACTTCGAAGTGTGTGCCACTGTTTATACCAG___GTGGTTAGCCAGCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAG___ATACTTCAGAGTATTGCCAATCATGTTCTCTTCACAAAAGAAGAACATATGCGGCCTTTCAATGATTTTGTGAAAAGCAACTTTGATGCAGCACGCAG___GTTTTTCCTTGATATAGCATCTGATTGTCCTACAAGTGATGCAGTAAATCATAGTCTTTCCTTCATAAGTGACGGCAATGTGCTTGCTTTACATCGTCTACTCTGGAACAATCAGGAGAAAATTGGGCAGTATCTTTCCAGCAACAG___GGATCATAAAGCTGTTGGAAGACGACCTTTTGATAAGATGGCAACACTTCTTGCATACCTGGGTCCTCCAGAGCACAAACCTGTGGCAGATACACACTGGTCCAGCCTTAACCTTACCAGTTCAAAGTTTGAGGAATTTATGACTAG___GCATCAGGTACATGAAAAAGAAGAATTCAAGGCTTTGAAAACGTTAAGTATTTTCTACCAAGCTGGGACTTCCAAAGCTGGGAATCCTATTTTTTATTATGTTGCACGGAG___GTTCAAAACTGGTCAAATCAATGGTGATTTGCTGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCAAAGCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTAGCAATCGCTTTAAAACAGACTTTCTCTCTAAGTGGTTTGTTGTTTTTCCTGGCTTTGCTTACGACAACGTCTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGGCTGCTGACTGGCCTCAAAGGTAGCAAAAGGCTTGTTTTCATAGACTGTCCTGGGAAACTGGCTGAGCACATAGAGCATGAACAACAGAAACTACCTGCTGCCACCTTGGCTTTAGAAGAGGACCTGAAGGTATTCCACAATGCTCTCAAGCTAGCTCACAAAGACACCAAAGTTTCTATTAAA___GTTGGTTCTACTGCTGTCCAAGTAACTTCAGCAGAGCGAACAAAAGTCCTAGGGCAATCAGTCTTTCTAAATGACATTTATTATGCTTCGGAAATTGAAGAAATCTGCCTAGTAGATGAGAACCAGTTCACCTTAACCATTGCAAACCAGGGCACGCCGCTCACCTTCATGCACCAGGAGTGTGAAGCCATTGTCCAGTCTATCATTCATATCCGGACCCGCTGGGAACTGTCACAGCCCGACTCTATCCCCCAACACACCAAGATTCGGCCAAAAGATGTCCCTGGGACACTGCTCAATATCGCATTACTTAATTTAGGCAGTTCTGACCCGAGTTTACG___GTCAGCTGCCTATAATCTTCTGTGTGCCTTAACTTGTACCTTTAATTTAAAAATCGAGGGCCAGTTACTAGAGACATCAGGTTTATGTATCCCTGCCAACAACACCCTCTTTATTGTCTCTATTAGTAAGACACTGGCAGCCAATGAGCCACACCTCACGTTAGAATTTTTGGAAGAGTGTATTTCTGGATTTAGCAAATCTA___GTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAG___ATTACAGATCTGCTTGATGTTGTACTAGACAGTTTCATCAAAACCAGTGCAACAGGTGGCTTGGGATCAATAAAAGCTGAGGTGATGGCAGATACTGCTGTAGCTTTGGCTTCTGGAAATGTGAAATTGGTTTCAAGCAAG___GTTATTGGAAGGATGTGCAAAATAATTGACAAGACATGCTTATCTCCAACTCCTACTTTAGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCATCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATATCATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTG___AAGAGACCAAGCAAGTTTTGAGACTCAGTCTGACAGAGTTCTCATTACCCAAATTTTACTTGCTGTTTGGCATTAGCAAAGTCAAGTCAGCTGCTGTCATTGCCTTCCGTTCCAGTTACCGGGACAGGTCATTCTCTCCTGGCTCCTATGAGAGAGAGACTTTTGCTTTGACATCCTTGGAAACAGTCACAGAAGCTTTGTTGGAGATCATGGAG___GCATGCATGAGAGATATTCCAACGTGCAAGTGGCTGGACCAGTGGACAGAACTAGCTCAAAG___ATTTGCATTCCAATATAATCCATCCCTGCAACCAAGAGCTCTTGTTGTCTTTGGGTGTATTAGCAAACGAGTGTCTCATGGGCAGATAAAGCAGATAATCCGTATTCTTAGCAAG___GCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAG___GACTCGCCTCTGCACAAAGCCCTCTTTTGGGTAGCTGTGGCTGTGCTGCAGCTTGATGAGGTCAACTTGTATTCAGCAGGTACCGCACTTCTTGAACAAAACCTGCATACTTTAGATAGTCTCCGTATATTCAATGACAAG___AGTCCAGAGGAAGTATTTATGGCAATCCGGAATCCTCTGGAGTGGCACTGCAAGCAAATGGATCATTTTGTTGGACTCAATTTCAACTCTAACTTTAACTTTGCATTGGTTGGACACCTTTTAAAAG___GGTACAGGCATCCTTCACCTGCTATTGTTGCAAGAACAGTCAGAATTTTACATACACTACTAACTCTGGTTAACAAACACAGAAATTGTGACAAATTTGAAGTGAATACACAGAGCGTGGCCTACTTAGCAG___CTTTACTTACAGTGTCTGAAGAAGTTCGAAGTCGCTGCAGCCTAAAACATAGAAAGTCACTTCTTCTTACTGATATTTCAATGGAAAATGTTCCTATGGATACATATCCCATTCATCATGGTGACCCTTCCTATAG___GACACTAAAGGAGACTCAGCCATGGTCCTCTCCCAAAGGTTCTGAAGGATACCTTGCAGCCACCTATCCAACTGTCGGCCAGACCAGTCCCCGAGCCAGGAAATCCATGAGCCTGGACATGGGGCAACCTTCTCAGGCCAACACTAAGAAGTTGCTTG___GAACAAGGAAAAGTTTTGATCACTTGATATCAGACACAAAGGCTCCTAAAAGGCAAGAAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAATGG___AAACTCAGAGGATTTCCTCATCACAACAGCACCCACATTTACGTAAAGTTTCAGTGTCTGAATCAAATGTTCTCTTGGATGAAGAAGTACTTACTGATCCGAAGATCCAGGCGCTGCTTCTTACTGTTCTA___GCTACACTGGTAAAATATACCACAGATGAGTTTGATCAACGAATTCTTTATGAATACTTAGCAGAGGCCAGTGTTGTGTTTCCCAAAGTCTTTCCTGTTGT___GCATAATTTGTTGGACTCTAAGATCAACACCCTGTTATCATTGTGCCAAGATCCAAATTTGTTAAATCCAATCCATGGAATTGTGCAGAGTGTGGTGTACCATGAAGAATCCCCACCACAATACCAAACATCTTACCTGCAAA___GTTTTGGTTTTAATGGCTTGTGGCGGTTTGCAGGACCGTTTTCAAAG___CAAACACAAATTCCAGACTATGCTGAGCTTATTGTTAAGTTTCTTGATGCCTTGATTGACACGTACCTGCCTGGAATTGATGAAGAAACCAGTGAAGAATCCCTCCTGACTCCCACATCTCCTTACCCTCCTGCACTGCAGAGCCAGCTTAGTATCACTGCCAACCTTAACCTTTCTAATTCCATGACCTCACTTGCAACTTCCCAGCATTCCCCAG___GAATCGACAAGGAGAACGTTGAACTCTCCCCTACCACTGGCCACTGTAACAGTGGACGAACTCGCCACGGATCCGCAAGCCAAGTGCAGAAGCAAAGAAGCGCTGGCAGTTTCAAACGTAATAGCATTAAGAAGATCGTGTGAAGCTTGCTTGCTTTCTTTTTTAAAATCAACTTAACATGGGCTCTTCACTAGTGACCCCTTCCCTGTCCTTGCCCTTTCCCCCCATGTTGTAATGCTGCACTTCCTGTTTTATAATGAACCCATCCGGTTTGCCATGTTGCCAGATGATCAACTCTTCGAAGCCTTGCCTAAATTTAATGCTGCCTTTTCTTTAACTTTTTTTCTTCTACTTTTGGCGTGTATCTGGTATATGTAAGTGTTCAGAACAACTGCAAAGAAAGTGGGAGGTCAGGAAACTTTTAACTGAGAAATCTCAATTGTAAGAGAGGATGAATTCTTGAATACTGCTACTACTGGCCAGTGATGAAAGCCATTTGCACAGAGCTCTGCCTTCTGTGGTTTTCCCTTCTTCATCCTACAGAGTAAAGTGTTAGTCCTATTTATACATTTTTCAAGATACAAGTTTATGAGAGAAATAGTATTATAACCCCAGTATGTTTAATCTTTTAGCTGTGGACTTTTTTTTTAACCGTACAAAACTGAAAGAACCATAGAGGTCAAGCCTCAGTGACTTGACACCATAAAGCCACAGACAAGGTACTTGGGGGGGAGGGCAGGGAAATTTCATATTTTATAGTGGATTCTTAAGAAATACTAACACTTGAGTATTAGCAATAATTACAGGAAAATAAGTGCGACCACATATATCTTAACATTACTGAATTAAAACTATGGCTTCTAAGTCCTTATCCAAACTCAGTCATCCAAACTAGTTTATTTTTTTCTCCAGTTGATTATCTTTTAATTTTTAATTTTGCTAAAGGTGGTTTTTTTGTGTTTTGTTTTTTGTAAACCAAAACTATACTAAGTATAGTAATTATATATATATATATATTTTTTCCCCTCCCCCTCTTCTTTCCTAACTAATTCTGAGCAGGGTAATCAGTGAACAAAGTGTTGAAAATTGTTCCCAGAAGGTAATTTTCATAGATGTTTGCATTAGCTCCATAGCAAAATGGAATGGTACGTGACATTTAGGGTAGCTGATATTTTTATTTTGTTAAATAATTTCCAAGAATAGAGTATGGTGTATATTATAAATTTCTTTGATAAGATGTATTTTGAATGTCTTTTAATCTTCCTCCTCCTCTCCAAAAAAATCAGAAACCTCTTTAAGAAAACATGTAGGTTATATATGCTAGAATTGCATTTAATCACTGTGAAAAGACTGGTCAGCCTGCATTAGTATGACAGTAGGGGGGCTGTTAGAATTGCTGCTATACTGGTGGTATGGATTATCATGGCATTGGAATTTTCATAGTAATGCAGATCCAATTTCTTTGTGGTACCTGCAGTTTACAAAATAATTTGACTTCAGTGAGCATATTGGTATCTGGATGTTCCAATTTAGAACTAAACCATATTTATTACAAAAAGATATTAATCCCTCTACTCCCAGGTTCCCTTTATATGTTAAGATATAATGGCTTTGAGGGGGGAAAAAATAAACCTAGGGGAGAGGGGAGTTTCCTGTAGTGCTGTTTCATTAGAGGATTTCAGTAAATTAAATTCCACAGCTAATTCAATAAATAATGGTACATTTAAGTGTTCTGATTTTAATAATATATTTCACATTTATCCACACAGTAACAATGTAATATGTTAATGTAAATAAAATTGGTTTTGATACTCAGAAATAACAAGAATTTAATTTTTTAAATTTGTTTACAGTCCTGGGAAAAGTAAGAATTATTTGCCAAAATAAGAGGAAAGAAAACCTTAGTATTATTAATGAGTTTACCATAGAATTGTTGGAAATACTGAAGACAGGTGCAATTTACTAAACTTTTGTTTTTAAACTATTGTAGAGGCTGCATTAGAAGAAAATGTTTATAATGACAGAGCAACTATGACTATATAAAAAAGCTGAAATTAGAACTGTGTTTAGAAATAGATCAGTAACCCAGTGCCAAGGATGCCAAGCTGCCACCATGGTCTTGGCTCTCCCACAACCCAGTGTTTCTGGGGTAAGTTTCACAGTTTCTAGGCCCTGGAATAGCAGGCAGTGTAAGCCTTTGATAACTTTAGTTCGATGTTTTTCTTGTTTTTGTTTGTTGGTTTGGTGCATATGATAGTGGGTGTTATGCTATTTTGCTCTTCCCATCAAAATAAAGAAACTTCCAGAGGTTTACTGTTAAAAATACTGATATTTCCATAAACGGGTTTACCAAGGGTGTAGTATTTCATACCGCCTGAAATGATCAGCATTGGCACAAATCAAAATTCAGCCGCCTTTGAAATGCAAAAATACCTTTGACTAGTAAGTACATCCTAGGAGTTTGAAAACTTAACTAAGGTTTAAAATTTACCTTGTTTAAAGAACTTCTGACTTTTGAGGAAAATCTAGCTTTCCAAGTAACTAAAATGTACATGAGATAAACCTCTCACCACTATGTGTCCCTTGAGAAATGCAACACTTTTTTAGTCTTCATACTTGTAATCTATAAAAGAAATTCTGAAGTTTAGACCAAGTTGCCCATTTCTGCGTAATTGACATAAGTTCTGTTAAAAATATTATAAGTAATTCGTTTCGGTTTGTAGATGTTTCCCCTGACTTGTTAAAGAGGAAACCAGGAACTCAGTCATGTTTTTGTCCTGGATAATCTACCTGTTATGCCAGTACTCCCATCCGAGGGGCATGCCCTTAGTTGCCCAGATGGAGATGCAGTTCAGTAGATTTGGGGCAAAGTGGCTACAGCTCTGTCTTCCATTCACTCAACACCTGTTCATGACTGAGCCAGGTGCCCAGGACACATCCTAAACAGTCAGCTTCTATCCTGTGTCCTAGTTGGGGAGACAGAGTGCCAGCCAGCAACCCTCCCAGGTTTGTAGGTTTTAGGGGTTTTCAGTTTTGTTTGGGTTTTTTGTTTTTTGTTTTTGTTTCTACATCCTTCCCCGACTCCCAGGCATAATGAGGCATGTCTTACTCAATGTTATGCAATGGATTTAGGCAAAAATTCATTCTTAGTGTCAGCCACACAATTTTTTTTAATGCAGTATATTCACCTGTAAATAGTTTGTGTAAAATTTGACAAAAAAAGTATATTTACTATACTGTAAATATATGTGATGATATATTGTATTATTTTGCTTTTTTGTAAAGCAGTTAGTTGCTGCACATGGATAACAACAAAAATTTGATTATTCTCGTGTTAGTATTGTTAACTTCTTTTTGCGACTGCGTTACATCATTTAAAGAAAATGCTGTGTATTGTAAACTTAAATTGTATATGATAACTTACTGTCCTTTCCATCCGGGCCTAAACTTTGGCAGTTCCTTTGTCTACAACCTTGTTAATACTGTAAACAGTTGTACGCCAGCAGGAAAAATACTGCCCAACAGACAAAATCGATCATTGTAGGGGAAAATCATAGAAATCCATTTCAGATCTTTATTGTTCCTCACCCCATTTTCCTCCTTGTGTATGTACTTCCCCCACCCCCCTTTTTTTAAGTAAAATGTAAATTCAATCTGCTCTAAGA)$ MSGSVLFTAG|esyi* 18BR007 ENSG00000112685.14 ENSG00000112699.11 -/- -/- chr6:617711 chr6:2194993 CDS/splice-site intron duplication 2 0 0 55 0 medium out-of-frame . Exocyst_complex_component_Sec5(100%),IPT/TIG_domain(100%)|GDP-mannose_4_6_dehydratase(100%) . . ENSG00000112685.14 ENSG00000112699.11 ENST00000230449.9 . upstream downstream . ^(ACACGCTCGGCGCTCGCGGCGGGCGGAAGTGAGGTGCCGGCGGCTGGCGGCCGCGGAGTCTTCGGCGAGACCTACCGGGCCCTGTCTGTGCCGGCCGTGAGCTGCGGCAGGACGGCTGGAG___ATTACTTCTCTAACAGGATCACCAGTTTGCTCCACAAAGCACAATGTCTCGATCACGACAACCCCCCCTTGTGACCGGCATCTCTCCAAATGAAGGGATACCATGGACGAAGGTCACAATCAGGGGAGAAAATCTGGGGACTGGCCCCACCGACCTCATAG___GCTTGACCATTTGTGGACATAATTGCCTCCTGACGGCAGAATGGATGTCTGCAAGTAAAATAGTATGTCGAGTGGGACAAGCCAAAAATGACAAAGGAGACATTATTGTCACCACTAAGTCAGGTGGCAGAGGAACCTCAACAGTCTCTTTCAAGCTACTCAAACCTGAGAAAATAG___GCATTTTGGATCAGTCTGCTGTGTGGGTTGATGAAATGAATTATTATGATATGCGCACTGACAGGAACAAAGGAATTCCGCCCTTGTCCTTACGTCCTGCTAACCCGCTTGGCATTGAGATTGA)AAA___AAGTAAATTTTCGCAGAAGGACTTAGAAATGCTATTCCATGGAATGAGTGCTGATTTTACAAGTGAGAATTTCTCAGCAGCCTGGTATCTTATAGAGAATCACTCAAACACCAG___TTTTGAGCAGCTCAAAATGGCAGTCACCAACCTAAAGAGACAGGCTAACAAGAAGAGTGAGGGCAGCCTGGCCTATGTGAAAGGCGGTCTCAGTACATTCTTCGAAGCACAGGATGCCCTCTCAG|CAAAGTACAGGCTGATAATTCCAAAGGCTGTTTAAGGGGTAATTGTGGCTGACAGAGCAGCATTCACGGAAC MSRSRQPPLVTGISPNEGIPWTKVTIRGENLGTGPTDLIGLTICGHNCLLTAEWMSASKIVCRVGQAKNDKGDIIVTTKSGGRGTSTVSFKLLKPEKIGILDQSAVWVDEMNYYDMRTDRNKGIPPLSLRPANPLGIEIEKSKFSQKDLEMLFHGMSADFTSENFSAAWYLIENHSNTSFEQLKMAVTNLKRQANKKSEGSLAYVKGGLSTFFEAQDALS|akyrliipkav* 18BR009 ENSG00000196535.16 ENSG00000196535.16 -/- -/+ chr17:29082316 chr17:29092761 CDS/splice-site intron inversion/5'-5' 53 45 1 263 185 high out-of-frame . Myosin_head_(motor_domain)(100%),Myosin_tail(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%)| . . ENSG00000196535.16 ENSG00000196535.16 ENST00000531253.5 . upstream upstream duplicates(15) ^(CTGGATGCCGCGTCTCCGCTTCTGCTGCCTGCCGGGCGGGCTCCGGTGGCCG___CAGCAAAGTGGGGCACCAAGGCCCTGTGCTAAGCACTCATAATCCTCTGGGGGTGCTACCCCTACAAACAGCACCCCCACCATGTTTAACCTAATGAAGAAAGACAAGGACAAAGATGGCGGGCGGAAGGAGAAGAAGGAGAAAAAGGAGAAAAAGGAGCGGATGTCAGCGGCAGAGCTTCGGAGCCTGGAGGAGATGAGCCTGCGACGTGGCTTCTTCAACCTGAACCGCTCCTCCAAGCGTGAATCCAAGACGCGCCTGGAAATCTCCAACCCCATCCCCATCAAGGTGGCCAGCGGCTCTGACCTGCACCTGACTGACATTGACTCCGATAGTAACCGGGGCAGCGTCATCCTGGACTCGGGCCACCTAAGTACAGCCAGCTCCAGCGATGACCTCAAGGGTGAGGAGGGTAGCTTCCGTGGCTCGGTGCTGCAGCGGGCAGCCAAGTTCGGCTCACTGGCCAAGCAGAACTCACAGATGATTGTCAAGCGCTTTTCCTTCTCCCAGCGTAGCCGGGATGAGAGCGCCTCAGAAACCTCGACGCCCTCAGAGCACTCTGCCGCCCCCTCGCCACAGGTGGAGGTGAGGACTCTAGAGGGACAGCTGGTGCAGCATCCTGGCCCAGGCATCCCTCGACCAGGGCACCGATCCCGAGCCCCTGAGCTAGTGACTAAAAAGTTCCCAGTCGACCTGCGCCTGCCCCCCGTGGTGCCCCTGCCCCCACCTACCCTCCGGGAGCTGGAGCTGCAACGACGGCCCACTGGAGACTTTGGCTTCTCCCTGCGGCGCACAACCATGCTGGATCGGGGCCCCGAGGGCCAGGCCTGTCGGCGTGTGGTCCACTTTGCTGAGCCTGGTGCAGGCACCAAGGACCTGGCCCTGGGGCTGGTGCCAGGAGATCGACTGGTGGAGATTAATGGGCACAATGTGGAGAGCAAGTCCAGGGATGAGATTGTGGAGATGATCCGGCAGTCAGGGGACAGCGTGCGGCTCAAGGTGCAGCCCATTCCAGAGCTCAGCGAGCTCAGCAGGAGCTGGCTGCGGAGCGGCGAGGGACCTCGCAGGGAGCCATCCGAT___GCGAAAACAGAAGAACAGATTGCAGCAGAAGAGGCCTGGAATGAGACGGAGAAGGTGTGGCTGGTCCATAGGGACGGCTTCTCACTGG___CCAGTCAACTCAAATCTGAGGAGCTCAACTTGCCTGAGGGGAAGGTGCGTGTGAAGCTGGACCACGATGGGGCCATCCTGGATGTGGATGAGGATGACGTTGAGAAG___GCTAATGCTCCCTCCTGCGACCGTCTGGAGGATCTGGCCTCACTGGTGTACCTCAATGAGTCCAGCGTCCTGCACACCTTGCGCCAGCGCTATGGCGCTAGCCTGCTGCACACGTATGCTGGCCCCAGCCTGCTGGTTCTTGGCCCCCGTGGGGCCCCTGCTGTGTACTCTGAGAAG___GTGATGCACATGTTCAAGGGTTGTCGGCGGGAGGACATGGCACCCCACATCTATGCAGTGGCCCAGACCGCATACAGGGCGATGCTGATGAGCCGTCAGGATCAGTCAATCATCCTCCTGGGCAGTAGTGGCAGTGGCAAGACCACCAGCTGCCAGCATCTGGTGCAGTACCTGGCCACCATCGCGGGCATCAGCGGGAACAAGGTGTTTTCTG___TGGAGAAGTGGCAGGCTCTGTACACCCTCCTGGAAGCCTTTGGGAACAGCCCCACCATCATTAATGGCAATGCCACCCGCTTCTCCCAGATCCTCTCCCTGGACTTTGACCAAGCTGGCCAGGTGGCCTCAGCCTCCATTCAG___ACAATGCTTCTGGAGAAGCTGCGTGTGGCTCGGCGCCCAGCCAGTGAAGCCACATTCAACGTCTTCTACTACCTGCTGGCCTGTGGGGATGGCACCCTCAG___GACAGAGCTCCACCTCAACCACTTGGCAGAGAACAATGTGTTTGGGATTGTGCCACTGGCCAAG___CCTGAGGAAAAGCAGAAGGCAGCTCAGCAGTTTAGTAAGCTGCAGGCGGCCATGAAGGTGCTGGGCATCTCCCCCGATGAACAGAAGGCCTGCTGGTTCATTCTGGCTGCCATCTACCACCTGGGGGCTGCGGGAGCCACCAAAG___AAGCTGCTGAAG___CTGGGCGCAAGCAGTTTGCCCGCCATGAGTGGGCCCAGAAGGCTGCGTACCTACTGGGCTGCAGCCTGGAGGAGCTGTCCTCAGCCATCTTCAAGCACCAGCACAAGGGTGGCACCCTGCAGCGCTCCACCTCCTTCCGCCAGGGCCCCGAGGAGAGTGGCCTGGGAGATGGGACAG___GCCCGAAACTGAGTGCACTGGAGTGCCTTGAGGGCATGGCGGCCGGCCTCTACAGCGAGCTCTTCACCCTTCTCGTCTCCCTGGTGAATAG___GGCTCTCAAGTCCAGCCAGCACTCACTCTGCTCCATGATGATTGTCGACACCCCGGGCTTCCAGAACCCTGAGCAGGGTGGGTCAGCCCGCGGAGCCTCCTTTGAGGAGCTGTGCCACAACTACACCCAAGACCGGCTGCAGAGGCTCTTCCACGAGCGCACCTTCGTGCAGGAGTTGGAAAGATACAAGGAG___GAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTG___GTCCGCTCGCTGGCCCGCACAGACGAGGCGAGGGGCCTGCTCTGGCTATTGGAAGAGGAGGCTCTGGTGCCAGGGGCCAGTGAGGACACCCTCCTGGAGCGCCTTTTCTCCTATTATGGCCCCCAGGAAGGTGACAAAAAAG___GCCAAAGCCCCCTTCTGCACAGCAGCAAACCACACCACTTTCTCCTGGGCCACAGCCATGGCACCAACTGGGTAGAGTACAATGTGACTGGCTGGCTGAACTACACCAAGCAGAACCCAGCCACCCAGAATGCCCCCCGGCTCCTGCAGGACTCCCAGAA___AAAAATCATCAGCAACCTGTTTCTGGGCCGCGCAGGCAGTGCCACGGTGCTCTCTGGCTCCATCGCGGGCCTGGAGGGCGGCTCGCAGCTGGCACTGCGCCGGGCCACCAGCATGCGGAAAACCTTTACCACAGGCATGGCGGCTGTCAAAAAGAAGTCACTGTGCATCCAGATGAAGCTACAGGTG___GACGCCCTCATCGACACCATCAAGAAGTCAAAGCTGCATTTTGTGCACTGCTTCCTGCCTGTAGCTGAGGGCTGGGCTGGGGAGCCCCGTTCCGCCTCCTCCCGCCGAGTCAGCAGCAGCAGTGAGCTGGACCTGCCCTCGGGAGACCACTGCGAGGCTGGGCTCCTGCAGCTCGACGTGCCCCTGCTCCGCACCCAGCTCCGCGGCTCCCGCCTGCTCGATGCCATGCGCATGTACCGCCAAG___GTTACCCTGACCACATGGTGTTTTCCGAGTTCCGCCGCCGCTTTGATGTCCTGGCCCCGCACCTGACCAAGAAACACGGGCGTAACTACATCGTGGTGGATGAAAGGCGG___GCAGTGGAGGAGCTGCTGGAGTGCTTGGATCTGGAGAAGAGCAGCTGCTGCATGGGCCTGAGCCGG___GTGTTCTTCCGGGCGGGCACCTTGGCACGGCTGGAGGAGCAGCGGGATGAACAAACCAGCAGGAACCTAACCCTGTTCCAAGCAGCCTGCAGGGGCTACCTGGCCCGCCAGCACTTCAAGAAGAGAAAG___ATCCAGGACCTGGCCATTCGCTGTGTACAGAAGAACATCAAGAAGAACAAAGGGGTGAAGGACTGGCCCTGGTGGAAGCTTTTTACCACAGTGAGGCCCCTCATCGAAGTACAGCTGTCAGAGGAGCAGATCCGGAACAAAGAC___GAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCCGG___ATCTCAGAGCTGACATCGGAGCTGACAGATGAGCGTAACACAGGAGAGTCCGCCTCCCAGCTGCTGGACGCGGAGACAGCAGAGAGGCTCCGGGCTGAGAAGGAGATGAAGGAACTGCAG___ACCCAGTACGATGCACTGAAGAAGCAGATGGAGGTTATGGAAATGGAGGTGATGGAGGCCCGTCTCATCCGGGCAGCGGAGATCAACGGGGAAGTGGATGATGATGATGCAG___GTGGCGAGTGGCGGCTGAAGTATGAGCGGGCTGTGCGGGAGGTGGACTTCACCAAGAAACGGCTCCAGCAGGAGTTTGAGGACAAGCTGGAGGTGGAGCAGCAGAACAAGAGGCAGCTGGAACGGCGG___CTCGGGGACCTGCAGGCAGATAGTGAGGAGAGTCAGCGGGCTCTGCAGCAGCTCAAGAAGAAGTGCCAGCGACTGACGGCTGAGCTGCAAGACACCAAGCTGCACCTGGAGGGCCAGCAGGTCCGCAACCACGAACTGGAGAAGAAGCAGAGGAG___GTTTGACAGTGAGCTCTCGCAGGCGCATGAGGAGGCCCAGCGGGAGAAGCTGCAGCGGGAGAAGCTGCAGCGGGAGAAGGACATGCTCCTCGCTGAGGCTTTCAGCCTGAAGCAGCAACTAGAG___GAAAAAGACATGGACATTGCAGGGTTCACCCAGAAGGTTGTGTCTCTAGAGGCAGAGCTCCAGGACATTTCTTCCCAAGAGTCCAAGGATGAGGCTTCTCTGGCCAAGGTCAAGAAACAGCTCCGGGACCTGGAGGCCAAAGTCAAGGATCAGGAAGAAGAGCTGGATGAGCAGGCAGGGACCATCCAGATGCTGGAACAG___GCCAAGCTGCGTCTGGAGATGGAGATGGAGCGGATGAGACAGACCCATTCTAAGGAGATGGAGAGTCGGGATGAGGAGGTGGAGGAGGCCCGGCAGTCGTGTCAGAAGAAG___TTAAAACAGATGGAGGTGCAGCTAGAGGAAGAGTATGAGGACAAGCAGAAGGTTCTGCGAGAGAAGCGGGAGCTGGAGGGCAAGCTCGCCACCCTCAGCGACCAG___GTGAACCGGCGGGACTTTGAGTCAGAGAAGCGGCTGCGGAAGGACCTGAAGCGCACCAAGGCCCTGCTGGCAGATGCCCAGCTCATGCTGGACCACCTGAAGAACAGTGCTCCCAGCAAGCGAGAGATTGCCCAGCTCAAGAACCAG___CTGGAGGAGTCAGAGTTCACCTGTGCGGCAGCCGTGAAAGCACGGAAAGCAATGGAGGTGGAGATCGAAGACCTGCACCTGCAGATTGATGACATCGCCAAAGCCAAGACAGCG___CTGGAGGAGCAGCTGAGCCGCCTTCAGCGTGAGAAGAATGAGATCCAGAACCGGCTGGAGGAAGATCAGGAAGACATGAACGAATTGATGAAGAAGCACAAGGCTGCCGTGGCTCAG___GCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAG___CTACAAGCCCTCCAGAGCCAGGTGGAGTTCCTGGAGCAGTCCATGGTGGACAAGTCCCTGGTGAGCAGGCAGGAAGCTAAGATACGGGAGCTGGAGACACGCCTGGAGTTTGAAAGGACGCAAGTGAAACGGCTGGAG___AGCCTGGCTAGCCGTCTCAAGGAAAACATGGAGAAGCTGACTGAGGAGCGGGATCAGCGCATTGCAGCCGAGAACCGGGAGAAGGAACAGAACAAGCGGCTACAGAGGCAGCTCCGGGACACCA)AGGAGGAGATGGGCGAGCTTGCCAGGAAGGAGGCCGAGGCGAGCCGCAAGAAGCACGAACTG___GAGATGGATCTAGAAAGCCTGGAGGCTGCTAACCAGAGCCTGCAGGCTGACCTAAAGTTGGCATTCAAGCGCATCGGGGACCTGCAGGCTGCCATTGAGGATGAGATGGAGAGTGATGAGAATGAGGACCTCATCAACAG___TGAGGGAGACTCTGATGTGGACTCGGAGCTGGAGGACCGTGTTGACGGGGTCAAGTCCTGGTTGTCAAAAAACAAGGGACCTTCCAAGGCAGCTTCTGATGATGGCAGCTTAAAGAGTTCCAG|GACTCAAGAACCACTGAGAGGAGCGAGAGAGAGAAAGAGAATGGAAAG___GATCCCGAGAGGCGCTTCCTGGCCCAGAATGACAATGGAAGACGATGTGGCTGAGGTAGGGAGGTGGAAAGCCCCTTACTTTAAAGCGGTGATGGGAACAGGTGTTTACGCT...___GTCCCCGAGCTAGGGGCCAAGATGGGGTGCATATACAGAGAGACCCAGAAGCATAGGTGGAGAAG___CCAGGCCTGCCTGCCCCCAGAGTTCACTGGACCGACACAAGG MFNLMKKDKDKDGGRKEKKEKKEKKERMSAAELRSLEEMSLRRGFFNLNRSSKRESKTRLEISNPIPIKVASGSDLHLTDIDSDSNRGSVILDSGHLSTASSSDDLKGEEGSFRGSVLQRAAKFGSLAKQNSQMIVKRFSFSQRSRDESASETSTPSEHSAAPSPQVEVRTLEGQLVQHPGPGIPRPGHRSRAPELVTKKFPVDLRLPPVVPLPPPTLRELELQRRPTGDFGFSLRRTTMLDRGPEGQACRRVVHFAEPGAGTKDLALGLVPGDRLVEINGHNVESKSRDEIVEMIRQSGDSVRLKVQPIPELSELSRSWLRSGEGPRREPSDAKTEEQIAAEEAWNETEKVWLVHRDGFSLASQLKSEELNLPEGKVRVKLDHDGAILDVDEDDVEKANAPSCDRLEDLASLVYLNESSVLHTLRQRYGASLLHTYAGPSLLVLGPRGAPAVYSEKVMHMFKGCRREDMAPHIYAVAQTAYRAMLMSRQDQSIILLGSSGSGKTTSCQHLVQYLATIAGISGNKVFSVEKWQALYTLLEAFGNSPTIINGNATRFSQILSLDFDQAGQVASASIQTMLLEKLRVARRPASEATFNVFYYLLACGDGTLRTELHLNHLAENNVFGIVPLAKPEEKQKAAQQFSKLQAAMKVLGISPDEQKACWFILAAIYHLGAAGATKEAAEAGRKQFARHEWAQKAAYLLGCSLEELSSAIFKHQHKGGTLQRSTSFRQGPEESGLGDGTGPKLSALECLEGMAAGLYSELFTLLVSLVNRALKSSQHSLCSMMIVDTPGFQNPEQGGSARGASFEELCHNYTQDRLQRLFHERTFVQELERYKEENIELAFDDLEPPTDDSVAAVDQASHQSLVRSLARTDEARGLLWLLEEEALVPGASEDTLLERLFSYYGPQEGDKKGQSPLLHSSKPHHFLLGHSHGTNWVEYNVTGWLNYTKQNPATQNAPRLLQDSQKKIISNLFLGRAGSATVLSGSIAGLEGGSQLALRRATSMRKTFTTGMAAVKKKSLCIQMKLQVDALIDTIKKSKLHFVHCFLPVAEGWAGEPRSASSRRVSSSSELDLPSGDHCEAGLLQLDVPLLRTQLRGSRLLDAMRMYRQGYPDHMVFSEFRRRFDVLAPHLTKKHGRNYIVVDERRAVEELLECLDLEKSSCCMGLSRVFFRAGTLARLEEQRDEQTSRNLTLFQAACRGYLARQHFKKRKIQDLAIRCVQKNIKKNKGVKDWPWWKLFTTVRPLIEVQLSEEQIRNKDEEIQQLRSKLEKAEKERNELRLNSDRLESRISELTSELTDERNTGESASQLLDAETAERLRAEKEMKELQTQYDALKKQMEVMEMEVMEARLIRAAEINGEVDDDDAGGEWRLKYERAVREVDFTKKRLQQEFEDKLEVEQQNKRQLERRLGDLQADSEESQRALQQLKKKCQRLTAELQDTKLHLEGQQVRNHELEKKQRRFDSELSQAHEEAQREKLQREKLQREKDMLLAEAFSLKQQLEEKDMDIAGFTQKVVSLEAELQDISSQESKDEASLAKVKKQLRDLEAKVKDQEEELDEQAGTIQMLEQAKLRLEMEMERMRQTHSKEMESRDEEVEEARQSCQKKLKQMEVQLEEEYEDKQKVLREKRELEGKLATLSDQVNRRDFESEKRLRKDLKRTKALLADAQLMLDHLKNSAPSKREIAQLKNQLEESEFTCAAAVKARKAMEVEIEDLHLQIDDIAKAKTALEEQLSRLQREKNEIQNRLEEDQEDMNELMKKHKAAVAQASRDLAQINDLQAQLEEANKEKQELQEKLQALQSQVEFLEQSMVDKSLVSRQEAKIRELETRLEFERTQVKRLESLASRLKENMEKLTEERDQRIAAENREKEQNKRLQRQLRDTKEEMGELARKEAEASRKKHELEMDLESLEAANQSLQADLKLAFKRIGDLQAAIEDEMESDENEDLINSEGDSDVDSELEDRVDGVKSWLSKNKGPSKAASDDGSLKSSr|tqeplrgarerkrmeriprgaswprmtmeddvaevgrwkapyfkavmgtgvy 18BR009 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 6 21 2 101 61 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(5) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGG)TCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 18BR009 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 13 7 0 26 27 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream low_entropy(1),mismappers(2) CGGCCGCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGA(CGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 18BR009 ENSG00000142599.19 ENSG00000117298.16 -/- -/- chr1:8422727 chr1:21290156 CDS/splice-site CDS/splice-site duplication 12 8 0 50 103 high in-frame . BAH_domain(100%),ELM2_domain(100%)|Peptidase_family_M13(100%) . . ENSG00000142599.19 ENSG00000117298.16 ENST00000400908.7 ENST00000649812.1 upstream downstream . ^(AGACGCTCGCGAGCAACCCTCCGCGCTCCGGAGCCTCCTCAGCCTCCCGCACACCCCGAGACGCTCGCCCCGCTGGGCCTCGGTCCCCGCCTCCTCCCCCGTCCTTTTCCCCTCTCTCGCTCCCCACATTGTCTCTGCCTCATTTTCTCTCCTAGTTGAGGATTAAAAAAAAAAAAAAATCACCATCATCCTCAGGGAGCCCCCTCGCCCTCGGAAAACAAAACCAGACATGATCCTGGGCTCCTGCTTCTGAAAGATCTGCCCGACCGAGGAGGAGGGAGCCTAGGTTCAAGTCGCAGGAAAGGTCACGGCAGGGAAGCCCCCTCAGCCCCTCCGCGTCGCCTCCCCGCGGGCCGCCCCTCTCGGCCCTGCGCCCCGCGGCCCCGCAGCCTCCGCGCGGCCTCCCGCCCCATCCCCGCCACTTTCCCCGGAGCTGGGCCGCGAACACCTCACTATTGATGGTGTAGCGCTTTAGGGGAAG___CATTTTTGAAACGTTGGGGTTGTTGGAGTGGTTGGATTTTCCCTGGAATTGAGTGAGAAATTCAGAAGACTGAAGCCCAGGCTTACTGTCTACCTTTCACGGAGGCCTAGCCGTGAGAGGACAGAAGAAGGCACGTGGCGAATCATGACAGCGGACAAAGACAAAGACAAAGACAAAGAGAAGGACCGGGACCGAGACCGGGACCGAGAGAGAGAGAAAAGAGACAAAGCAAGAGAGAGTGAGAATTCAAGGCCACGCCGGAGCTGTACCTTGGAAGGAGGAGCCAAAAATTATGCTGAGAGTGATCACAGTGAAGACGAGGACAATGACAACAATAGTGCCACCGCAGAGGAGTCCACGAAGAAGAATAAGAAGAAACCACCGAAAAAAAAGTCTCGTTATGAAAGGACAGATACCGGTGAGATAACATCCTACATCACTGAAGATGATGTGGTCTACAGACCAGGAG___ACTGTGTGTATATCGAGAGTCGGAGGCCAAACACACCGTATTTCATCTGTAGCATTCAAGACTTCAAACTG___GTCCACAACTCCCAGGCCTGTTGCAGATCTCCAACTCCTGCTTTGTGTGACCCCCCAGCATGCTCTCTGCCGGTGGCATCACAGCCACCACAGCATCTTTCTGAAGCCGGGAGAGGGCCTGTAGGG___AGTAAGAGGGACCATCTCCTCATGAACGTCAAATGGTACTACCGTCAATCTGAGGTTCCAGATTCTGTGTATCAGCATTTGGTTCAGGATCGACATAATGAAAATG___ACTCTGGAAGAGAACTTGTCATTACAGACCCAGTTATCAAGAACCGAGAGCTCTTCATTTCTGATTACGTTGACACTTACCATGCTGCTGCCCTTAG___AGGGAAGTGTAACATCTCCCATTTTTCTGACATATTTGCTGCTAGAGAGTTTAAAGCCCGAGTGGATTCATTTTTCTACATATTAGGATATAACCCTGAGACAAG___GAGGCTGAACAGTACCCAGGGGGAGATTCGTGTCGGTCCTAGTCATCAG___GCCAAACTTCCAGATCTGCAACCATTTCCTTCTCCAGATGGTGATACAGTGACCCAACATGAGGAACTGGTCTGGATGCCTGGAGTTAACGACTGTGACCTCCTTATGTACTTGAGGGCAGCAAG___GAGCATGGCGGCATTTGCAGGAATGTGTGATGGAGGCTCTACAGAGGACGGCTGTGT)CGCAGCCTCTCGGGATGACACCACTCTGAATGCACTGAACACA___CTGCATGAAAGCGGTTACGATGCTGGCAAAGCCCTGCAGCGCCTGGTGAAGAAGCCTGTGCCCAAGCTCATCGAGAAGTGCTGGACCGAGGACGAAGTG___AAACGCTTCGTTAAGGGACTCAGGCAGTACGGGAAGAACTTCTTCAGAATTAGAAAGGAGCTGCTTCCCAATAAGGAAACA|ATGTCGACGTACAAGCGGGCCACGCTGGACGAGGAGGACCTGGTGGACTCGCTCTCCGAGGGCGACGCATACCCCAACGGCCTGCAG___GTGAACTTCCACAGCCCCCGGAGTGGCCAGAGGTGCTGGGCTGCACGGACCCAGGTGGAGAAGCGGCTGGTGGTGTTGGTGGTACTTCTGGCGGCAGGACTGGTGGCCTGCTTGGCAGCACTGGGCATCCAGTACCAGACAA___GATCCCCCTCTGTGTGC(CTGAGCGAAGCTTGTGTCTCAGTGACCAGCTCCATCTTGAGCTCCATGGACCCCACAGTGGACCCCTGCCATGACTTCTTCAGCTACGCCTGTGGGGGCTGGATCAAGGCCAACCCAGTCCCTGATGGCCACTCACGCTGGGGGACCTTCAGCAACCTCTGGGAACACAACCAAGCAATCATCAAGCACCTCCTCG___AAAACTCCACGGCCAGCGTGAGCGAGGCAGAGAGAAAGGCGCAAGTATACTACCGTGCGTGCATGAACGAGACCAGGATCGAGGAGCTCAGGGCCAAACCTCTAATGGAGTTGATTGAGAGG___CTCGGGGGCTGGAACATCACAGGTCCCTGGGCCAAGGACAACTTCCAGGACACCCTGCAGGTGGTCACCGCCCACTACCGCACCTCACCCTTCTTCTCTGTCTATGTCAGTGCCGATTCCAAGAACTCCAACAGCAACGTGATCCAG___GTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAG___GTGCTGACCGGATATCTGAACTACATGGTCCAGCTGGGGAAGCTGCTGGGCGGCGGGGACGAGGAGGCCATCCGGCCCCAGATGCAGCAGATCTTGGACTTTGAGACGGCACTGGCCAACATCACCATCCCACAGGAGAAGCGCCGTGATGAGGAGCTCATCTACCACAAAGTGACGGCAGCCGAGCTGCAG___ACCTTGGCACCCGCCATCAACTGGTTGCCTTTTCTCAACACCATCTTCTACCCCGTGGAGATCAATGAATCCGAGCCTATTGTGGTCTATGACAAGGAATACCTTGAGCAGATCTCCACTCTCATCAACACCACCGACAGATG___CCTGCTCAACAACTACATGATCTGGAACCTGGTGCGGAAAACAAGCTCCTTCCTTGACCAGCGCTTTCAGGACGCCGATGAGAAGTTCATGGAAGTCATGTACGGGACCAAGAAG___ACCTGTCTTCCTCGCTGGAAGTTTTGCGTGAGTGACACAGAAAACAACCTGGGCTTTGCGTTGGGCCCCATGTTTGTCAAAGCAACCTTCGCCGAGGACAGCAAGAGCATA___GCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAG___GCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGAC___TACACTGCAGTTCCAGACCTCTACTTTGAAAATGCCATGCGGTTTTTCAACTTCTCATGGAGGGTCACTGCCGATCAGCTCAGGAAAGCCCCCAACAGAGATCA___GTGGAGCATGACCCCGCCCATGGTGAACGCCTACTACTCGCCCACCAAGAATGAGATTGTGTTTCCGGCCGGGATCCTGCAGGCACCATTCTACACACGCTCCTCACCCAA___GGCCTTAAACTTTGGTGGCATAGGTGTCGTCGTGGGCCATGAGCTGACTCATGCTTTTGATGATCAAG___GACGGGAGTATGACAAGGACGGGAACCTCCGGCCATGGTGGAAGAACTCATCCGTGGAGGCCTTCAAGCGTCAGACCGAGTGCATGGTAGAGCAGTACAGCAACTACAGCGTGAACGGGGAGCCGGTGAACGGGCGGCACACCCTGGGGGAGAACATCGCCGACAACGGGGGTCTCAAGGCGGCCTATCGG___GCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAG___GTCTGGTGCTCCGTCCGCACACCTGAGAGCTCCCACGAAGGCCTCATCACCGATCCCCACAGCCCCTCTCGCTTCCGGGTCATCGGCTCCCTCTCCAATTCCAAGGAGTTCTCAGAACACTTCCGCTGCCCACCTGGCTCACCCATGAACCCGCCTCACAAGTGCGAAGTCTG___CAGCCCAGGCCTCCTGGCCCAGCCCTGCCTGGACAGTGCTCTCCCCTCACCCGGGAAGCTGGAATCCTCCTGCCCGAGAGGAAGCAGACGGCACAGGGACACCCCTGCCACCTTGGGATCTGCCTCCAAGCTGGTGCAGGGTATCGAGAGTGGATTCCAGATGGAGGTCCTGGTCCCAGCACGCAGCAGTCCTGGTAGCTCTGCAGAGGAGACAGGAACCCGAGAAGTAGCTGAAGCAGAAGCCAGCCGCAGTCCCCTTGCCACATAGAGGCGGGCTTCTCCCAGCCATGGTGTCCCCTCTGCCTCCCCTCCCCCGACCCTCCTGCCTTCCGCGTGGAGGGTGGTGGTCCTGTAGTGTCAGCACCAGCACCATGGGCTTGGACCCCCTCCCTGGACACAGGCAGGTGTCCTAGGGCTGGGGGTGCAGCCCGAGGGAATGGAGACCACACTCATGGCTCAGGTCTGCCGGGGCCGGCAGGGGGTTGGGGAAGAAGAGGGCTCAGGCCCAGCAGGGGTGGAAGCCCCTGCCACTGCCACTACCCGCTCCAGAGCTTTAAGGAAAATGAAGTGAGACCCCTCCCCTTAGGCCTGGGGAGCCATAGGGCTGGCTTCTCTGTGGGTGCGTGGACGTGGGGTTGGGAGCTGGGAATCTATTTTTTGTATTATGTTTTGAGCTACTGTAGTTTTGGCGTGGCACT)$ MTADKDKDKDKEKDRDRDRDREREKRDKARESENSRPRRSCTLEGGAKNYAESDHSEDEDNDNNSATAEESTKKNKKKPPKKKSRYERTDTGEITSYITEDDVVYRPGDCVYIESRRPNTPYFICSIQDFKLVHNSQACCRSPTPALCDPPACSLPVASQPPQHLSEAGRGPVGSKRDHLLMNVKWYYRQSEVPDSVYQHLVQDRHNENDSGRELVITDPVIKNRELFISDYVDTYHAAALRGKCNISHFSDIFAAREFKARVDSFFYILGYNPETRRLNSTQGEIRVGPSHQAKLPDLQPFPSPDGDTVTQHEELVWMPGVNDCDLLMYLRAARSMAAFAGMCDGGSTEDGCVAASRDDTTLNALNTLHESGYDAGKALQRLVKKPVPKLIEKCWTEDEVKRFVKGLRQYGKNFFRIRKELLPNKET|MSTYKRATLDEEDLVDSLSEGDAYPNGLQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAGLVACLAALGIQYQTRSPSVCLSEACVSVTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTASVSEAERKAQVYYRACMNETRIEELRAKPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSGLGLPSRDYYLNKTENEKVLTGYLNYMVQLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWLPFLNTIFYPVEINESEPIVVYDKEYLEQISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKTCLPRWKFCVSDTENNLGFALGPMFVKATFAEDSKSIATEIILEIKKAFEESLSTLKWMDEETRKSAKEKADAIYNMIGYPNFIMDPKELDKVFNDYTAVPDLYFENAMRFFNFSWRVTADQLRKAPNRDQWSMTPPMVNAYYSPTKNEIVFPAGILQAPFYTRSSPKALNFGGIGVVVGHELTHAFDDQGREYDKDGNLRPWWKNSSVEAFKRQTECMVEQYSNYSVNGEPVNGRHTLGENIADNGGLKAAYRAYQNWVKKNGAEHSLPTLGLTNNQLFFLGFAQVWCSVRTPESSHEGLITDPHSPSRFRVIGSLSNSKEFSEHFRCPPGSPMNPPHKCEVCSPGLLAQPCLDSALPSPGKLESSCPRGSRRHRDTPATLGSASKLVQGIESGFQMEVLVPARSSPGSSAEETGTREVAEAEASRSPLAT* 18BR009 ENSG00000135317.13 ENSG00000112378.12(17548),ENSG00000112379.9(36972) -/- ./- chr6:85593579 chr6:138124967 CDS/splice-site intergenic duplication 6 12 0 85 25 high out-of-frame . . . . ENSG00000135317.13 . ENST00000346348.7 . upstream downstream duplicates(2),mismappers(1) ^(CCGCGGCCGCGCACGCGCGGCGGGGGGCGTGGGGCTGGGCCCAGCCGGACGCGACCTCAGCCTGCGGCGGCTAACTGCCGGTAGGCGTCTGTGTGCGCCGCCAAGTCGGTGGGGCGGGGACGCGAGGTGTGGATGGGGGGTCGCCTTGACCTCTGCCTCAGCCAGTAGCGCAGTCTCGGCCTCGCCGT)TACGGAGATGGTGCCCTGGGTGCGGACGATGGGGCAGAAGCTGAAGCAGCGGCTGCGACTGGACGTGGGACGCGAGATCTGCCGCCAGTACCCGCTGTTCTGCTTCCTGCTGCTCTGTCTCAGCGCCGCCTCCCTGCTTCTTAACAG|GTTTTGGTATCAGGATGATGCTGGCCTCAATGAGTTGGGGAGCTTCTACACAGCAAAAGAAACTATCAACAGAGTGAACAGAcAACCTACAGAATGGGAGAAAATACTTGCAAACTATGCATCTGACAAAGGTCTAATATCCAGCATCCATAAG___AAATCTTCATCTGAGTCCAATTAATGAAAATGGTGACAGCACTACAATAACAGACAAGAAATGTTGTAATCTAAGTTCATCTTCAGAGAAATGAAGCAGGATATTTGTCAAAAGACTTGAAGGTATCCCTGTAT MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNr|fwyqddaglnelgsfytaketinrvnrqptewekilanyasdkglissihkksssesn* 18BR009 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 5 0 136 62 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(3),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAAT)GCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAATTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATtTGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAAGCCTCTATAGCTTGGCCTGTCTTCGTAGGAAACCCTGGC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 18BR009 ENSG00000177106.16 ENSG00000133195.11(23159),ENSG00000265469.1(47183) +/+ ./- chr11:710486 chr17:73115852 CDS/splice-site intergenic translocation 8 3 1 110 30 high out-of-frame . Phosphotyrosine-binding_domain(100%)| . . ENSG00000177106.16 . ENST00000533256.5 . downstream downstream duplicates(1) ^(GTGACTCCGCAACCTGTCGCTCAGGTTCCTCCTCTCCCGGCCCCGCCCCGGCCCGGCCCCGCCGAGCGTCCCACCCGCCCGCGGGAGACCTGGCGCCCCGGCCGAGGCGCGAACAGACGGACGCACCGGCGAGCGCCGAGGGGACAGGCCGAGCGCGGGGCGCCGGAGGCAG___GACCCTCCCGAGGGCCTGACCGTGGAGGTAGCACTGCACACCCACTCCCTGTGGGCCGGAGCCAGGAGGCACTTCCTGGGTGTCGGAGCCCAGAAGGAAACCAGTGGCCGGGAAGCACCAGCTGG___GTGTGGGACAGGCACTGGCCTCAGACCGGGGCCACACTGAGGTCTGCCCTTCTCCCGCTGGCCGCCACCCAAGACACCATGAGCCAGTCCGGGGCCGTGAGCTGCTGCCCGGGTGCCACCAA___TGGCAGCCTGGGCCGGTCCGACGGTGTGGCCAAGATGAGCCCCAAGGACCTGTTTG___)AGCAGAGGAAGAAGTATTCCAACTCCAACGTCATCATGCACGAGACCTCGCAGTACCACGTCCAG|CCTACCCACATCCTTCACATCCTGTAAGGATCTTGCCCTCACTCCACCAGTCCCCCTCGCTATTTCAGCACAGTAACCAAAATCCTGCCCAGCAAAGGCTCAAAGATGGGAAGCCTCTTCAAGAGAAGAGAATGAATAAGC MSQSGAVSCCPGATNGSLGRSDGVAKMSPKDLFEQRKKYSNSNVIMHETSQYHVQ|pthilhil* 18BR009 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 1 10 0 31 17 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(3) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCA)GGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTGGTGAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvg 18BR009 ENSG00000009335.18 ENSG00000257923.11 +/+ +/- chr7:157225539 chr7:101972769 CDS/splice-site intron inversion/3'-3' 1 7 1 115 13 high out-of-frame . . . . ENSG00000009335.18 ENSG00000257923.11 ENST00000348165.10 . downstream downstream duplicates(3) ^(GCACGCACTGACGGCTGACCGCCATCTTCCCTCCCGAGGCGGCAGTTCCAGGTGCAAGCGCCGGGTTTGCTGCCCGCTGGGCGCCCCTGCAGCGGCCCGAGCTGTGGCCGGCGTGGATGAGGGGCAGGCGAGGCAGGGCCGCCCCTCCAGTATTGCCGCCCCTCCCGCCCCAGGGCAGGGCTGGGAGGGTACAGCCCGGGGGCGGGCTCGGGTCGCCTCCCGGCCGCCGCGTCCTCGCTGCCCCGGGCCGGGCGGGCGGGCGCCGAGAGCCTCCCAGCCCGCCCCGTGCCCCGCCCGCCCGGCTGCTTCCGCGGCGGCGCTGCCCGCACATGGGCTAGGCTGCCAGGATGTTCAGCTTCGAAGGCGACTTCAAGACGCGGCCCAAGGTGTCCCTTGGCGGCGCGAGCAGGAAG___GAGGAAAAGGCTTCTCTTTTACATCGTACTCAGGAAGAAAGAAGAAAGAGAGAG___GAAGAAAGGCGAAGGTTGAAAAATGCAATAATTATCCAGTCATTTATTCGAGGCTATAGAGACAGAAAACAGCAA___TATTCCATCCAAAGAAGTGCATTTGATCGCTGTGCTACCTTGTCACAGTCCGGGGGCGCTTTTCCCATTGCTAATGGCCCCAACCTTACCCTTTTGGTAAGGCAGCTTCTGTTTTTTTACAAACAAAATGAAGACTCAAAACGTTTG___ATATGGCTGTATCAGAACTTAATTAAACACAGCTCTCTGTTTGTCAAGCAGTTGGATGGATCTGAGAGACTTACATGCTTATTTCAGATAAAAAGATTGATGAGCCTCTGTTGCAG___GTTGCTGCAAAACTGTAATGATGACAGTTTGAATGTTGCACTTCCAATGAGAATGCTTGAAGTATTTTCGTCTGAGAATACTTACTTGCCTGTTTTACAAGATGCTAGCTATGTGGTGTCAGTGATTGAACAAATTTTGCACTACATGATTCACAATG___GGTATTATAGGTCTCTATATTTGTTGATTAACAGCAAGCTTCCATCAAGTATTGAATATTCTGATTTATCTCGAGTTCCTATAGCAAAAATTTTGCTAGAGAATGTTCTAAAACCATTGCACTTTACTTACAACTCCTGTCCGGAAGGTGCGAG___GCAACAAGTTTTTACAGCCTTCACAGAGGAGTTTCTGGCAGCACCTTTTACAGATCAGATTTTTCATTTCATCATTCCGGCGCTTGCAGATGCGCAGACCGTTTTCCCTTACGAGCCCTTTCTGAATGCACTGTTGTTAATAGAGAGTAGATGTTCAAGAAAGAGTGGTGGAGCACCCTGGCTTTTCTATTTCGTTTTAACTGTTGGCGAAAATTATTTGG___GGGCCCTCTCTGAGGAAGGGCTGCTGGTGTATTTGCGGGTGCTGCAGACCTTCCTCTCTCAGTTACCAGTCTCTCCTGCCAGCGCGAGCTGTCACGACTCAGCCAGTGACTCTGAGGAGGAGAGTGAAGAAGCCGACAAGCCCTCAAGCCCG___GAGGATGGCAGACTGTCAGTATCATACATAACAGAGGAATGCCTGAAGAAGCTGGACACAAAGCAGCAGACCAACACCCTGCTCAACCTGGTGTGGAGGGACTCTGCGAGCGAGGAGGTCTTCACCACCATGGCCTCCGTCTGCCACACGCTGATGGTGCAGCACCGCATGATGGTACCCAAAGTCAG___GCTTCTCTACAGTTTAGCCTTTAATGCCAGGTTTCTGAGACATCTTTGGTTTCTAATATCTTCCATGTCAACACGGATGATCACAGG___GTCTATGGTACCGTTGCTTCAGGTGATATCCAGGGGTTCTCCTATGTCTTTTGAAGATTCTAGTCGAATCATCCCACTCTTTTATCTTTTTAGCTCCTTGTTTAGTCATTCACTAATTTCCATACATGATAACGAATTCTTCGGTGATCCCATAGAAG___TTGTAGGTCAAAGACAATCATCAATGATGCCTTTTACTTTAGAAGAGCTGATAATGTTGTCTCGATGCCTTCGAGATGCATGCCTGGGGATCATCAAGTTGGCTTATCCAGAAACCAAGCCAGAAGTTCGAGAAGAATATATTACAGCATTTCAGAGTATTGGAGTTACTACTAGCTCTGAAATGCAACAATGCATACAGATGGAACAGAAAAGATGGATTCAGTTATTTAAG___GTTATCACCAATCTAGTGAAAATGTTGAAGTCCAGAGACACGAGGAGAAATTTTTGTCCTCCAAACCACTGGCTGTCAGAACAAGAAGATATTAAAGCAGATAAG___GTCACTCAGCTCTATGTGCCAGCATCCAGACATGTGTGGAGGTTCCGGCGGATGGGGAGGATAGGCCCGCTGCAGTCCACCCTGGACG___TGGGTTTGGAGTCCCCGCCGCTGTCTGTGTCTGAGGAAAGACAGCTTGCTGTCCTGACAGAGTTGCCTTTTGTGGTTCCATTTGAG)GAACGAGTAAAG___ATCTTTCAGAGGTTGATTTATGCAGATAAGCAAGAAGTTCAAGGAGATGGTCCATTTCTGGATGGAATTAATGTCACAATAAGAAGAAATTACATTTATGAAGATGCTTATGACAAACTTTCTCCAGAAAATG|GAGTGGCCTCTCTTCCCACCCACCATGGCGGCCTGGCCTGGAGGAGGAGGCATTGGGGCCGGAGTCCTTCCCCGACAGGGAGTCTCTCTCCACCTTGGCGGCTGAACTCCAGCACACGAATACACAGGAGGTGGTGAGGGCGCGTGAATACAGCAGAAAGGGCCACCAGCAGAGACAAA MFSFEGDFKTRPKVSLGGASRKEEKASLLHRTQEERRKREEERRRLKNAIIIQSFIRGYRDRKQQYSIQRSAFDRCATLSQSGGAFPIANGPNLTLLVRQLLFFYKQNEDSKRLIWLYQNLIKHSSLFVKQLDGSERLTCLFQIKRLMSLCCRLLQNCNDDSLNVALPMRMLEVFSSENTYLPVLQDASYVVSVIEQILHYMIHNGYYRSLYLLINSKLPSSIEYSDLSRVPIAKILLENVLKPLHFTYNSCPEGARQQVFTAFTEEFLAAPFTDQIFHFIIPALADAQTVFPYEPFLNALLLIESRCSRKSGGAPWLFYFVLTVGENYLGALSEEGLLVYLRVLQTFLSQLPVSPASASCHDSASDSEEESEEADKPSSPEDGRLSVSYITEECLKKLDTKQQTNTLLNLVWRDSASEEVFTTMASVCHTLMVQHRMMVPKVRLLYSLAFNARFLRHLWFLISSMSTRMITGSMVPLLQVISRGSPMSFEDSSRIIPLFYLFSSLFSHSLISIHDNEFFGDPIEVVGQRQSSMMPFTLEELIMLSRCLRDACLGIIKLAYPETKPEVREEYITAFQSIGVTTSSEMQQCIQMEQKRWIQLFKVITNLVKMLKSRDTRRNFCPPNHWLSEQEDIKADKVTQLYVPASRHVWRFRRMGRIGPLQSTLDVGLESPPLSVSEERQLAVLTELPFVVPFEERVKIFQRLIYADKQEVQGDGPFLDGINVTIRRNYIYEDAYDKLSPEN|gvaslpthhgglawrrrhwgrspsptgslsppwrlnsstrihrrw* 18BR009 ENSG00000185658.13 ENSG00000258934.1(56751),ENSG00000259047.1(124338) -/- ./+ chr21:39264460 chr14:42864863 CDS/splice-site intergenic translocation 1 7 0 42 33 high out-of-frame . WD_domain__G-beta_repeat(100%)| . . ENSG00000185658.13 . ENST00000333229.6 . upstream upstream duplicates(2),inconsistently_clipped(1),low_entropy(1) ^(AGGTCTTTGCCTCCGCGTCACTTTCTCCTCATCGAGTCCCCGGAGGCAGAGAGCTGAGCGAGGTTCGCCTCCCCGGGCGGGACACGAGCTCCGGTCCTCTCTTGGCGCAAACCCCCGCCCCCCGCGGAGGGACTACTTTTCGTCTCCCGCGGAGGAACTACTTCCTCCCCCGCGGAGGCGTCGGTCCAGGCGGCGCGCACGGTATGGCGGCGGCGGCGGCGGCGGCGGCGCGCGCCTGAGAAGAGGGGACGCCAGCCCGGTCAGGCCTCGGCGCGGCCTACACGCTCCGCTCGCTCGCTCGCTCCCGCCTCCCGCCCCGCGCCCGGCCATGGCGGAGCCGTCGTCCGCCCGACGCCCGGTGCCTCTCATCGAGTCGG___AGCTGTACTTCCTTATCGCCCGGTACCTATCGGCGGGCCCGTGTCGGAGAGCGGCCCAG___GTGCTGGTGCAGGAGCTGGAGCAGTACCAG___TTGTTGCCGAAGAGATTGGACTGGGAGGGCAACGAGCACAACAGGAGCTACGAGGAGTTG___GTCTTGTCCAATAAGCATGTGGCTCCTGATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTGGATAAAGAAATTCCACCCAGTATTTCAAGAGTCACTTCTTTACTTGGTGCAGGAAGGCAGTCTTTGCTACGTACAGCAAAAG___ACTGCAGGCACACAGTTTGGAAGGGCTCTGCCTTTGCTGCTCTTCATAGAGGAAGACCTCCTGAAATGCCAGTGAATTATGGTTCCCCACCAAATCTTG___TGGAGATACATCGAGGAAAACAACTCACAGGGTGTTCCACTTTTAGTACAGCATTTCCAGGAACTATGTATCAGCATATAAAAATGCACAGAAGGATTCTCGGACATCTATCTGCTGTTTACTGTGTAGCATTTGATAGGACAGGACATAGAATCTTTACA___GGTTCAGATGACTGTTTGGTAAAGATTTGGTCAACACATAATGGCCGCTTGTTATCTACATTAAGAGGTCATTCTGCAGAAATTTCAGATATGGCAGTAAACTATGAGAATACAATGATTGCTGCGGGGAGCTGTGATAAAATTATTAGAGTGTGGTGCTTGAGAACTTGTGCCCCAGTTGCTGTGCTCCAAGGACACACAGGATCAATTACATCTTTACAG___TTTAGCCCGATGGCCAAAGGCTCTCAAAGATACATGGTTTCCACTGGTGCTGATGGGACAGTTTGCTTTTGGCAATGGGATTTAGAATCCTTAAAATTTAG___CCCACGTCCCCTGAAGTTCACTGAAAAGCCTAGGCCAGGCGTTCAAATGCTTTGTTCTTCTTTTAGTGTTG___GTGGTATGTTTTTAGCCACAGGTAGTACTGATCATGTAATCAGAATGTATTTTTTGGGTTTTGAAGCACCCGAAAAAATCGCAGAACTTGAAAGCCACACT___GATAAAGTAGATAGTATCCAATTTTGTAACAATGGTGATCG___GTTCCTAAGTGGTAGCAGAGATGGAACAGCACGGATTTGGAGATTTGAGCAGTTAGAATGGAGGAGCATTTTATTGGATATGGCTACCAGAATCTCAGG___GGACTTATCTTCCGAAGAGGAAAGGTTTATGAAACCTAAAGTAACAATGATAGCTTGGAATCAAAATGATAGCATTGTTGTCACAGCTGTGAATGATCATGTCCTCAAAGTGTGGAATTCTTACACTGGACAACTGCTTCATAACTTAATG___GGACATGCTGATGAAGTATTTGTTCTGGAGACACATCCCTTTGATTCCAGAATTATGTTATCTGCAGGACATGATGGCAGCATATTTATATGGGATATTACAAAAGGTACCAAGATGAAACATTATTTTAATATG___ATTGAAGGACAAGGACATGGAGCTGTGTTTGACTGTAAGTTTTCACAGGATGGACAGCATTTTGCCTGTACAGATTCTCATGGGCACCTTCTGATATTTGGTTTTGGATGCAG)CAAACCATATGAAAAG___ATTCCTGATCAGATGTTCTTCCATACTGACTATCGACCACTTATTAGAGATTCTAATAATTATGTCTTAGATGAGCAAACTCAGCAGGCTCCTCATCTTATGCCTCCACCATTCTTGGTAGATGTAGATGGAAATCCTCATCCAACCAAGTATCAGAGATTAGTACCAGGCCGAGAAAATTCTGCAGATGAACATTTGATTCCACAGCTGGGCTATGTGGCAACAA|ATAAGAGTCTCACCTATTGCCCAGACTGGAGTGTAGTGTTGCAATCATAGCTCACTGTTATCTTGAACTCCTAGGATCAAGCCATCTTCTTGCCTCAGTCTCCCAAGCAGCTAGGACTACAG___CTTGAGCTGAATTACACCACTGGCCACCGGCTTTCCTGGTTCTCCAGCTTGCAG MAEPSSARRPVPLIESELYFLIARYLSAGPCRRAAQVLVQELEQYQLLPKRLDWEGNEHNRSYEELVLSNKHVAPDHLLQICQRIGPMLDKEIPPSISRVTSLLGAGRQSLLRTAKDCRHTVWKGSAFAALHRGRPPEMPVNYGSPPNLVEIHRGKQLTGCSTFSTAFPGTMYQHIKMHRRILGHLSAVYCVAFDRTGHRIFTGSDDCLVKIWSTHNGRLLSTLRGHSAEISDMAVNYENTMIAAGSCDKIIRVWCLRTCAPVAVLQGHTGSITSLQFSPMAKGSQRYMVSTGADGTVCFWQWDLESLKFSPRPLKFTEKPRPGVQMLCSSFSVGGMFLATGSTDHVIRMYFLGFEAPEKIAELESHTDKVDSIQFCNNGDRFLSGSRDGTARIWRFEQLEWRSILLDMATRISGDLSSEEERFMKPKVTMIAWNQNDSIVVTAVNDHVLKVWNSYTGQLLHNLMGHADEVFVLETHPFDSRIMLSAGHDGSIFIWDITKGTKMKHYFNMIEGQGHGAVFDCKFSQDGQHFACTDSHGHLLIFGFGCSKPYEKIPDQMFFHTDYRPLIRDSNNYVLDEQTQQAPHLMPPPFLVDVDGNPHPTKYQRLVPGRENSADEHLIPQLGYVAT|nksltycpdwsvvlqs* 18BR009 ENSG00000153707.17 ENSG00000106571.14(317427),ENSG00000238284.2(107080) -/- ./+ chr9:8633317 chr7:42554636 CDS/splice-site intergenic translocation 2 5 0 17 14 high out-of-frame . Immunoglobulin_I-set_domain(100%)| . . ENSG00000153707.17 . ENST00000463477.5 . upstream upstream duplicates(3),mismatches(1) ^(CGGCGCCGCCAGCCAGCCTCGGCGGGGAGAGTGCAG___TTTATTCTGGGCCTGTGTGGAATAGAAAGACAATTCTTTATTTGACTGGTAGGAAAGAAAAGAGAAGACTCCTCAGGGTTTCCAAGGAGGACTGGAGCGGCTGCTTTA___GTGAAGAAGTGAAGAATCAAGGAAGTAAAGGACCTGTCTCAAAGTCACACAACTA___GGAAATCTTGAGGAGTCTGATACTTTTCATCCTCCAGCTATAAAATCATCTTGTAGGGGGAAGCTGTACATTG___GTGGAAAATAAAAGGCAAGCAGTTCCTGGCCCGTGATATTCCAGTTAGAGGTGTCTGACTGACAGCATGTTGGCACCGAGGGAAGCGATGGGCTTCGGCTCCAG___GTTTCTGTCCTGAGACCACAGCAGAATGTGCCTTGGACAAAG___GCTTGGACTCCTTGATCTTCTGGTAACTTCAAAAATCTG___GTCTCAGGGTGGTGAACTTTTTCTTCGAATTCCTAACCTGTGAGCTTACG___AAAAAGGGAGCATGCCTGTCTTATTCTCAGTGCCTCATGGGAAATAAAAGATTGGGAGATGATAGCTACCTG___ATGATGGTGCCTGTCCATTAACTGAACAACTGTG___GTTTTGAACTTCTTGAGGCCAGGGACTGTGTCTGAAAACACCGACGGTGGCTAACTCAAG___GGAGACGTCTGGTGAACACCCGTGGGATCTAAAGAACAA___GCTCTGAAAGTGTTCCAGCTGAAATTTCAGATCGGACAGACTCGCTGCGGCTCCGGAGGCAGTGATTCCAAGCTGCTCGCGCACGCTGCTGCCAAGCTGCAGGATGGTGCACGTAGCCAGGCTGCTGCTGCTGCTCCTCACTTTCTTCCTCCGCACGGATGCTGAGA___CACCTCCAAGGTTTACACGAACACCCGTTGATCAGACAGGGGTCTCTGGCGGAGTTGCCTCTTTCATCTGCCAAGCTACGGGAGACCCAAGACCTAAAATTGTCTGGAAC)AAAAAAGGAAAGAAAGTCAGCAATCAGAGATTTGAG___GTAATAGAGTTTGACGATGGGTCTcGATCAGTTCTCAGAATACAACCCTTACGGACTCCGAGGGATGAGGCCATTTATGAATGTGTGGCCTCAAATAATGTGGGAGAAATAAGTGTATCCACCAGACTCACAGTTTTGCGGG|GAAGTCAGGGACCCCAAATGGAGGGAGCTGCTGATGCCAAAGCCGTGACAGAAGAACATAAACTGTGAAGAtTTCATGGACATTTATCACTTCCCTAATCAATAATTTCCTATGCCTGTCTTTAATCTCCTAATCCCATCATCTTTGTAAGCTGAGGATGTATGTCGCCTCAGGACCCTGTGATGATTGCGTTAACTGCACAAATTGTTCATAAAGCATATTTGTTTGAACAATATGAAGTCTGGGCACCTTGAAAAAAGAACAGGATAACAGTGATGTCCAG MVHVARLLLLLLTFFLRTDAETPPRFTRTPVDQTGVSGGVASFICQATGDPRPKIVWNKKGKKVSNQRFEVIEFDDGSrSVLRIQPLRTPRDEAIYECVASNNVGEISVSTRLTVLR|gsqgpqmegaadakavteehkl* 18BR009 ENSG00000148396.18 ENSG00000169583.13 -/- -/- chr9:136465962 chr9:136995757 CDS/splice-site CDS/splice-site duplication 5 1 1 96 141 high out-of-frame . |Glutathione_S-transferase__C-terminal_domain(100%),Glutathione_S-transferase__N-terminal_domain(100%) . . ENSG00000148396.18 ENSG00000169583.13 ENST00000290037.10 ENST00000494426.2 upstream downstream duplicates(2) ^(GCGAGGAGCGCGCCCGCGTCAGGGCCCCGCGCTTCTCAGCTGGGCGGAGTAGCCGTTCTCGGTGCGTGAGCCTGCTGGCATCGGTCCTGCAGACTGATTTCCCGCTTGTGGCCTTGATTGAAGAATCCCATCTCTTCTCACATCTTAAAACGAAAAAAGACTGGGAGAAAGAGCCAGCGTAAACAGGGCGACGTACTGGGACGGCCCCGGCGCGCCTGGCCGGGCAGGTGGCGAGGGGCGGGGCCAAGCG___CTCCAATTAAGGAACAGCTATATCCTGCTTCCTTCTGTAAGCAGCATCGACTTGTGCAAGGGTTCAGTCATGCAGCCACCGCCCCAGACGGTCCCGTCTGGCATGGCTGGGCCACCTCCAGCCGGGAATCCTCGGAGCGTGTTCTGGGCTAGCAGCCCTTACAGGAGACGGGCTAATAATAATGCAGCAGTGGCTCCGACAACTTGCCCGTTGCAGCCGGTCACGGATCCATTTGCTTTTAGTAGACAGGCGCTCCAAAGTACACCACTGGGCAGTTCGTCCAAAAGCAGTCCACCTGTCTTGCAAGGCCCAGCCCCCGCAGGGTTTTCTCAGCACCCCGGTTTGCTTGTTCCTCACACACATGCCAGAGATAGCTCTCAGGGACCCTGTGAGCCCCTGCCTGGACCTCTGACACAGCCCAGAGCACATGCCAGTCCGTTTTCTGGTGCATTGACACCTTCAGCACCTCCTGGGCCTGAGATGAACAGGAGTGCAGAGGTCGGTCCCAGTTCAGAGCCTGAAGTTCAGACTCTGCCATATCTTCCTCACTACATTCCAGGAGTGGATCCTGAAACGTCTCATGGGGGCCACCCTCATGGGAACATGCCTGGGCTCGACCGACCCCTGAGCAGGCAAAACCCACATGACGGTGTGGTCACCCCAGCAGCATCCCCTTCCCTCCCTCAGCCTGGTCTGCAGATGCCAGGACAGTGGGGGCCAGTGCAGGGAGGCCCACAGCCCTCGGGGCAACATCGTTCACCCTGCCCTGAAGGACCTGTTCCCAGCGGGGTGCCCTGTGCCACCAGCGTTCCTCATTTCCCCACCCCGTCCATCCTACATCAGGGCCCTGGTCATGAGCAACACAGCCCTCTGGTGGCTCCCCCAGCAGCCTTGCCCAGTGACGGAAGAGACGAGGTGAGCCACTTGCAAAGTGGAAGCCACCTGGCCAATAACTCTGATCCTGAAAGTACATTCAGGCAAAATCCCAGAATTGTGAATCACTGGGCAAGCCCAGAGCTCAGGCAGAATCCAGGAGTGAAGAATGAGCACCGGCCCGCCTCTGCTCTTGTGAACCCCCTCGCCCGGGGAGATAGCCCAGAAAACCGTACGCACCACCCACTGGGGGCTGGGGCCGGGTCTGGCTGTGCCCCGCTAGAAGCAGACTCAGGAGCTTCAGGAGCTCTGGCGATGTTTTTCCAAGGGGGAGAGACAGAAAATGAGGAGAATCTCTCATCTGAAAAAGCAGGCTTATCTGGTCAAGCGGACTTTGACGATTTCTGCTCCAGCCCTGGGCTAGGCCGTCCGCCCGCACCTACACACGTGGGGGCAGGCAGCCTCTGCCAGGCCCTTCTCCCAGGCCCCAGCAATGAGGCTGCTGGTGATGTGTGGGGTGACACAGCGAGCACAGGGGTGCCGGATGCCAGCGGCTCGCAGTATGAGAATGTTGAGAACTTAGAATTTGTTCAGAATCAAGAAGTTCTGCCAAGTGAGCCCCTCAATTTGGACCCTTCCTCCCCGAGTGACCAGTTCAGATATGGGCCCCTTCCTGGGCCAGCTGTGCCCAGGCATGGTGCTGTGTGCCACACCGGAGCCCCTGATGCCACACTGCATACAGTGCACCCTGACAGCGTGTCATCCAGCTATAGCAGCAGAAGCCACGGAAGGCTCTCAGGCTCAGCCAGGCCCCAGGAGCTGGTTGGCACATTCATTCAGCAAGAAGTTGGAAAACCCGAGGATGAAGCTTCAGGTAGTTTTTTTAAGCAAATCGATTCTTCTCCCGTAGGAGGTGAAACAGACGAGACCACTGTGAGCCAGAATTACCGTGGCAGCGTGTCCCAGCCCTCAACCCCGAGCCCCCCGAAACCTACAGGAATATTTCAGACAAGTGCAAATAGTTCTTTCGAACCGGTAAAATCTCACTTAGTTGGGGTAAAACCATTTGAGGCAGATCGCGCCAACGTGGTTGGTGAAGTAAGGGAGACCTGTGTCCGCCAGAAGCAGTGCAGACCAGCTGCCGCCCTGCCCGATGCTTCCCCTGGCAACCTGGAGCAGCCACCAGACAACATGGAGACCCTCTGTGCACCCCAGGTCTGTCCCCTGCCTCTTAACTCCACCACGGAAGCTGTGCACATGCTTCCGCACGCAGGGGCACCGCCCTTGGATACTGTGTATCCAGCACCCGAGAAGAGGCCTTCAGCCAGGACCCAGGGGCCCGTGAAGTGTGAGAGCCCAGCAACGACTCTGTGGGCGCAAAGTGAGCTGCCAGATTTTGGAGGCAACGTCCTTCTGGCCCCTGCAGCCCCGGCGCTTTATGTGTGTGCAAAACCTCAGCCACCTGTTGTTCAGCCTCCAGAAGAGGCGATGTCCGGGCAGCAGTCACGGAACCCAAGCTCGGCGGCCCCGGTGCAGAGCCGAGGTGGCATTGGTGCTTCTGAGAACCTTGAGAATCCTCCCAAAATGGGAGAGGAGGAGGCCCTTCAGTCCCAGGCGAGTTCTGGTTATGCAAGTTTATTATCCTCACCGCCCACTGAGTCTCTGCAGAATCCTCCAGTCTTGATTGCTCAGCCTGATCACAGCTATAATCTGGCTCAGCCCATTAACTTTTCTGTGTCCTTATCGAACTCTCATGAGAAGAATCAGTCCTGGAGAGAGGCTTTGGTGGGGGATAGACCTGCAGTCAGCAGTTGGGCTCTCGGTGGTGATTCTGGGGAGAACACTTCTTTGTCTGGGATTCCAACCAGCTCTGTCCTTAGCTTGTCTCTGCCTAGCAGTGTTGCCCAAAGTAATTTTCCACAAGGTTCTGGTGCTTCCGAAATGGTTTCTAATCAGCCTGCTAATTTGCTGGTTCAACCACCATCCCAGCCAGTTCCAGAGAACTTGGTTCCAGAAAGTCAAAAGGATCGTAAGGCAGGAAGTGCTCTTCCCGGATTTGCTAATAGCCCTGCTGGAAGCACAAGTGTGGTGTTAGTTCCACCTGCACACGGCACCCTGGTGCCTGATGGTAATAAGGCAAACCATTCCAGTCATCAGGAAGACACTTACGGAGCCCTAGACTTTACCTTAAGCAGGACTTTGGAAAATCCTGTAAACGTGTACAACCCGTCCCATTCTGACAGCCTCGCTTCTCAGCAAAGTGTTGCCAGTCATCCCAGACAATCTGGGCCTGGGGCGCCTAACCTTGACCGTTTTTATCAGCAGGTCACGAAAGATGCCCAGGGCCAGCCTGGCCTCGAAAGAGCCCAGCAGGAGCTGGTGCCACCCCAGCAACAGGCTTCTCCCCCACAACTACCCAAAGCCATGTTTTCGGAGCTGTCAAATCCAGAAAGTCTGCCCGCACAGGGACAGGCCCAGAACTCAGCACAGTCACCAGCAAGTCTGGTTCTGGTCGACGCGGGTCAGCAGCTGCCCCCTCGGCCTCCTCAGTCCTCTAGCGTGTCTCTGGTGTCCAGTGGCTCCGGCCAGGCAGCTGTGCCGTCAGAGCAGCCGTGGCCACAGCCAGTGCCTGCACTTGCCCCCGGCCCACCGCCTCAGGACCTGGCCGCCTACTACTACTACCGGCCTTTGTACGATGCCTACCAGCCTCAGTACTCTTTGCCGTACCCACCGGAGCCTGGCGCAGCCTCCCTCTATTACCAG___GATGTCTACAGCCTCTATGAGCCTCGATACAGGCCCTATGATGGTGCTGCGTCTGCTTACGCCCAGAACTACCGCTATCCCGAGCCCGAGCGGCCCAGCTCCCGAGCCAGCCACTCCTCGGAACGGCCACCTCCCAG___GCAAGGATATCCTGAAGGATACTATAGTTCCAAAAGTGGATGGAGCAGTCAGAGCGATTACTATGCAAGCTATTACTCCAGCCAGTACGATTATGGAG___ATCCAGGTCACTGGGATCGTTACCACTACAGTGCTAGAGTCAGGGACCCCCGCACCTATGACCGGAGGTATTGGTGTGATGCAGAGTATGACGCATACAGGAGAGAGCACTCTGCCTTCGGGGACAG___GCCCGAGAAACGTGACAACAACTGGAGGTACGATCCTCGCTTCACGGGGAGTTTTGACGATGACCCCGATCCGCACAGAGACCCTTATGGGGAAGAGGTGGACCGGCGCAGCGTCCACAGCGAGCACTCGGCACGGAGCCTGCAC)AGCGCACACAGCCTGGCCAGCCGCCGCAGCAGCCTCAGCTCCCACTCGCACCAG___AGTCAGATTTACAGAAGCCACAATGTGGCTGCCGGTTCCTACGAGGCCCCGCTTCCTCCAGGCTCCTTTCACGGCGATTTTGCCTACGGCACCTACCGCAGCAATTTCAGCAGTGGCCCCGGCTTCCCAGAGTATGGCTACCCTGCCGACACCGTCTGGCCTGCCATGGAGCAAG|GCGAGTGAGGACGGGGAGAGCGTGGGTCACTGCCCCTCCTGCCAGCGGCTCTTCATGGTCCTGCTCCTCAAGGGCGTACCTTTCACCCTCACCACGGTGGACACGCGCAG___GTCCCCGGACGTGCTGAAGGACTTCGCCCCCGGCTCGCAGCTGCCCATCCTGCTCTATGACAGCGACGCCAAGACAGACACGCTGCAGATCGAGGACTTTCTGGAGGAGACGCTGGGGCCGCCCGA___CTTCCCC(AGCCTGGCGCCTCGTTACAGGGAGTCCAACACCGCCGGCAACGACGTTTTCCACAAGTTCTCCGCGTTCATCAAGAACCCGGTGCCCGCGCAGGACGAAG___CCCTGTACCAGCAGCTGCTGCGCGCCCTCGCCAGGCTGGACAGCTACCTGCGCGCGCCCCTGGAGCACGAGCTGGCGGGGGAGCCGCAGCTGCGCGAGTCCCGCCGCCGCTTCCTGGACGGCGACAGGCTCACGCTGGCCGACTGCAGCCTCCTGCCCAAGCTGCACATCGTCGAC___ACGGTGTGCGCGCACTTCCGCCAGGCGCCCATCCCCGCGGAGCTGCGCGGCGTACGCCGCTACCTGGACAGCGCGATGCAGGAGAAAGAGTTCAAATACACGTGTCCGCACAGCGCCGAGATCCTGGCGGCCTACCGGCCCGCCGTGCACCCCCGCTAGCGCCCCACCCCGCGTCTGTCGCCCAATAAAGGCATCTTTGTCGGGAGTGAGGGTGTCCTGACATCTGAAGGGC)$ MQPPPQTVPSGMAGPPPAGNPRSVFWASSPYRRRANNNAAVAPTTCPLQPVTDPFAFSRQALQSTPLGSSSKSSPPVLQGPAPAGFSQHPGLLVPHTHARDSSQGPCEPLPGPLTQPRAHASPFSGALTPSAPPGPEMNRSAEVGPSSEPEVQTLPYLPHYIPGVDPETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAASPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPESTFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADFDDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRHGAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPTGIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTVYPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEEEALQSQASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSPASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYRPYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQ|ge* 18BR009 ENSG00000151151.6 ENSG00000108064.11 -/- +/+ chr10:58267422 chr10:58394358 CDS/splice-site CDS/splice-site inversion 1 5 0 34 140 high out-of-frame . |HMG-box_domain(100%) . . ENSG00000151151.6 ENSG00000108064.11 ENST00000373935.4 ENST00000487519.6 upstream upstream . ^(GTTCTTCGGCTCGGTTCTGTCTACCGGGCAGCGCCGGGGCCGGCGGCTGCGGCGGCAGAGGAACAGGAGCCGGGAGCCGCGTTCCGCCGAGAGTTGGGCAGAGGAGCGCCCGCGCCCCGGCGGCGTCATGGGCCCCCTCCCCGCGCTTCAGAGGGCACCAGCCGCGGGAACCCCCGGGCCTCCTCGCGCCCGAGCCTGAGCGACCCTCGGGTTCTCCGGCGCCCCCTCCCTCGCCCTATTTTTTTTCCTACTCTCGCTGCCGTTAC)CGCTTCTGCTCTCCGTTATGGCAACAGAGCCACCATCCCCCCTCCGGGTCGAGGCGCCGGGCCCCCCAGAAATGCGGACCTCcCCGGCGATCGAGTCCACCCCTGAGGGCACCCCGCAGCCGGCGGGCGGCAGACTCCGCTTCCTCAACGGCTGCGTGCCCCTCTCGCATCAGGTGGCCGGGCACATGTACGGGAAGGACAAAGTGG|GAAAAGCTGAAGACTGTAAAGGAAAACTGGAAAAATCTGTCTGACTCTGAAAAGGAA___TTATATATTCAGCATGCTAAAGAGGACGAAACTCGTTATCATAATGAAATGAAGTCTTGGGAAGAACAAAT(GATTGAAGTTGGACGAAAGGATCTTCTACGTCGCACAATAAAGAAACAACGAAAATATGGTGCTGAGGAGTGTTAAAAGTAGAAGATTGAGATGTGTTCACAATGGATAGGCACAGGAAACCAGTTAGGTCTCAATACCTGAAGCTATCGTAAAATTAAGAAAGGATAAAGTTGGTAAACCTTTTATATTTAGTATCTTTTTATTCAGCTCATGGACTTCTGCCAGCATAATACTTGCTTTGGAAAACCCAGATAAAGGTTCATGCAAACTTTATTTTGTGTTTAGGAACTACTGAGGATCAGAGTAATCCAAGCAAATGTGAATCATTTTACCTTTGACAAAGGTAAATCAGACTATGAAGTTTTTTTTATACAGGATGATGACTATGGAAAGAGTACTCTTGTTTCCTTATATTATGGAGGCAGGAGTTTCGTTTTCAAAATTGTTACAAATTGTAGAAGCCACGGTGTTCTGTGATATAAGTGTGTGTTTTTCATAAAGCAGGCAGAACTCATCTAGGTAAATTACAGTTCCTAGGTATAATTCACATTGTATTCAGAGTTGATGGTTGTACATATAAGTGATTGCTGGTTTTAGTTGCAACTTTGTATAAAAGGGACTGAGAAATTTATAAACTTTTTTCTTACTGTCTTTTTTCTAAAGTAAAAACAAAGAAATTATGTGCCAGATTTATGCATATTATTTTATGTTGCATAGAATAAAATTTTTAATCTTTAATTTTACATTTCCTAAATATATTTTAAGACGAAACATTTGTTCTATAGCTTTTCCCTTTTTTTAAGTAAGGAATTTTATTTTTTTCTGAATTATTTTCTCTCGTGAGTATATTGATCCAGAAAGAAAACTTGTATTATGTGTGTTTTAAAATGAGAAATCTAAAAAACGAAAAGTCTCCAAAGTCTCTGGAATTTGAAACACTTTGCATAACGTATAAAAGCCTGTTTAAGAGACAGCCAACTATGGCCTGTGGATCAAATCCAGCCTGCTGCCTGCTTTTTATGGCCTGTGAGCTAGGAATTGTGTTTATAATTTTAAATGTTTTTTTTTAAAGACTTTTATGATACTTGAAAATTAACATGAATATTTAGTGTTCATAAATAAAGTTTGTTGAAACACAACCAAGATCATTCTTTTACTTGTCTATGGCTGCTTTTCTGTGGCAGAGTAGCTGCCACAGAAACTATAGCCCACAAAGCCTGATATTTACTGTCTGTCTGTTTATGGAAAAAATTTATCAACCCATGGTCTATAGTATAGTGTGATATGACTACTGTTCCAATGTATTGAAGTGTTGGGATAGTTTTTTCAAATGTTTTCAGATGTTCTTGTTTTAGAATCATTGTCACCTTTAAGAGGAAAAAGGTCATCACTAGATAATCTAAACAAATTGTTGCTTCTCAGTGTTAGCAAGGAAAATAATCTAGTTTCAAATTACATTGCAGTATAATGAAAAAGATCCATATACTGTGGAATGATATTCTTTTAAAATTATTTGCTATGGCTTGGTAAAAATGTACTTTTTCCAGTAGCACATATCACAAGAACCTCACTGTAGTTGAAAGCCATCTTTCTTTAGTATTTGTTTATCCTTTTAGGAGAGTCAAGCAAAGGTTTTCACCACCTGTTTGAGCAGAATAATTCTCATCAGTTCACAGATATAGGATAACTCAATTTATATGCACTTTATGCGTTATGCAAAATATTTAGAAATTGTAGATTCTAGATCTCCAGAAAGACTTTGAAGACTTTGATGTCACAAAAAGATGACTTGTTATATGCTGAGCTTGACAAAGGTAGGAATGGGAGAGAAAAATAGTAGCTTATGAGGAAATATGAGGCTTTAAATATATAAAGTTGGATATTTTAAAATAACTTTTCCCTGTGGGAGCTTCTCACTCTGGGTGCAGACAGGACAGTGTTGGCCATTGGTGAAATAGATAGGATGGGTTTGAGGCCAGAGCAGTCTGGGAGTAGGGGGAAAGAGAAGGAGGTGTGCTAGTGTCTATCACAGGCTTTCTCAATTAGGTTTGCAGGAGAAAAAGCCCTAAGTCCCTGTGTCATCTAGAATGGTACTAATTATGTACAGTCCCTAGGAGAATGGAGAAAATCATAACTCAAATCATCGACTCAATTCTGTTCTCTTCAGATGAGCTCAGAGAGCACATAGGAGTGTTTGTAATGAGGGGTATGTAATGATTGAGATAGAGGAATGAGTTACATAAACATCTCGGGACAAATGCAGCATAGAAAACATCTTTGTAGTTACCCTGCGGGGAAATTTCCTCTGAGTTCTTTTAACATTAACTACCCGTATTATTTTATACTTAACATTCATATCATACCTTCCCAAATATATTGGGAAGTTCAGTGTTAAGTACGTTTCTCAAGTACTTAACAACTTAATATAGGGAGGAAAGGTGTAAACAGTGAAAAAAGAGCAAAACTATTTTATGGTAATTTTATGGTAGTATCAGCTTGTATTTGGTTCTCTGTTTCTAAAATAATGTAATTTTTAATATTTTAAATAATAGGATAACCTGGTTTCCAAGCCTTTTTTTCCCCCGACATCCAGAATACACACTGGATCCAAGCCTTTCTTAAACATCAGTACATGTGGAAGACTGGCATGCCATATACCAAATGCCATTCAGCTGTAACAGTATACACAGATTTTCTCTTATAAAGAATAAGAACATCATAACCAATGACCACTCATATAAAGTCTTATTTGTGTGTGTGTGTGTGTGTGTGTGCACGTGTGTGTGTTAGAGTCTCATTATATTGCTCAGGCTGGAGGGCATGGTGTGATCTTGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTTCCGAGTCGTTGGGACTACAGTAGGTGAACACCACCATGCCTGGCTAATTTTTGTATTTTTTTTTTAATCAAGATGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCATCAAGCGTTCCTCCTTCCTTGGCCTCCTTAAGTGCTGGGATTATAGGTGTGAGCCACCATGCTTGACCATAAAGCCTTACTATTTCTTTTGGAGACACAGTCTTGCTCTGTCCAAGCTGGAATGCAGTGATGTGATCATGGCTCACTGCAGCCTTGAACTCCCAGGCTTAAGAGATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCAGACCATCAAGCCTTGCTATTATTTTTTAGACTTTTCTTAATTTCATCCAACAAAGTAGTTGCTGTAGGAGCTGAGTGTTAGAAGGAAAGATGCTGAAGAAATGAAATCAAGCAGGGTGTATACTGTCATGAATAGGCATACAGTAGTTTTTATACTTTTGTTCTTTGGAGTACCAATGTTAGGTTTTACAAAAGTAATTTGATGAGGGGAAGGAGGGTTGTGTATTTATTTTACTTTCTGATGTTTGCTTAAATAATACTGTGTACGTATTCAGCTTGCTGTAATTCTGTAATTACGCTATTGCGTTTGGCTAACTCCTTTTTGGAAATGTCTTTTTTTTTGTACAAGGCATGTGTTAGTTTTTACTAATTGCTCTGAATGTGTATATTTAGATTTCTGAATTGAAAAAAAATAGCGTACAATAAGTAGATTTAAAGTAATTAGAACACTTTATTGATTTTTCTGATGTTTTCTGTATCTAAAATTTATCACCACCAGGTTGTGCTAAAACAGCAGGAAGTTTTTATATTGTGAGTGACAGTACCCATTATTTCTCTTAATTTTACTAACATTTACTATAAGAATATTCTCTCGCTCTTTTCTCCACTCACAGCCATTCTCCCTCCTTCTCTTCATAACATCAAGCTGTCACAGACAAATCTGAAAATGTTACAAGCACAGACTATGTTGTATGTTTTGAAATTTTAGAACAGTAATGTTCTTTTTAAAATTGAACTTCTGCAGAGTAAGAAAATGAATACATTTATTACTTTAAATTTGTAAAATTTTCCAAAGTAAAACCATACAAAGCTAGTGTCAGTCTCTCTCATTGTTCACAAATAAAGGACTTTTGTTAATTGATTAAATCACTTACTATATTCGATATGAAATATATAAAACATACAACCATTATCTAATACATTTCAGAATGTTTCACTGGTTACAGGAGCCAGTAAATAAAGTTGACTCTAAACAGGAATTTTAAATAAACTAAACATTTTTTCATCACCAA)$ MATEPPSPLRVEAPGPPEMRTSPAIESTPEGTPQPAGGRLRFLNGCVPLSHQVAGHMYGKDKV|gkaedckgkleksv* 18BR009 ENSG00000124275.15 ENSG00000249541.1(29061),ENSG00000248137.1(13411) +/+ ./+ chr5:7878322 chr5:2817610 CDS/splice-site intergenic duplication 1 3 0 66 18 high out-of-frame . Flavodoxin(100%)| . . ENSG00000124275.15 . ENST00000264668.6 . downstream upstream duplicates(3) ^(GGAGCTTTCTATTGGTCCTGGGTACCGAGCATGGGCGCTGCGTCAGTGCGCGCTGGCGCAAGGTTGGTGGAAGTCGCGTTGTGCAG___TTTCACTGTTACATGCCTTGAAGTGATGAGGAGGTTTCTGTTACTATATGCTACACAGCAGGGACAGGCAAAGGCCATCGCAGAAGAAATATGTGAGCAAGCTGTGGTACATGGATTTTCTGCAGATCTTCACTGTATTAGTGAATCCGATAAG___TATGACCTAAAAACCGAAACAGCTCCTCTTGTTGTTGTGGTTTCTACCACGGGCACCGGAGACCCACCCGACACAGCCCGCAAGTTTGTTAAGGAAATACAGAACCAAACACTGCCGGTTGATTTCTTTGCTCACCTGCGGTATGGGTTACTGG___GTCTCGGTGATTCAGAATACACCTACTTTTGCAATGGGGGGAAGATAATTGATAAACGACTTCAAGAGCTTGGAGCCCGGCATTTCTATGACACTGGACATGCAGATGACTGTGTAGG___TTTAGAACTTGTGGTTGAGCCGTGGATTGCTGGACTCTGGCCAGCCCTCAGAAAGCATTTTAGGTCAAGCAGAGGACAAGAGGAGATAAGTGGCGCACTCCCGGTGGCATCACCTGCATCCTCGAGGACAGACCTTGTGAAGTCAGAGCTGCTACACATTGAATCTCAAGTCGAGCTTCTGAGATTCGATGATTCAGGAAGAAAGGATTCTGAGGTTTTGAAGCAAAATGCAGTGAACAGCAACCAATCCAATGTTGTAATTGAAGACTTTGA)GTCtTCACTTACCCGTTCGGTACCCCCACTCTCACAAGCCTCTCTGAATATTCCTGGTTTACCCCCAGAATATTTACAGGTACATCTGCAGGAGTCTCTTGGCCAG|GCATTGGACAGAGTATCTTATGAACAAGAGAGGAAAACGCAGACTGaGCAAGGATTAAGTTAG___GTCTCCCTTCCATGTTTTCCAAGACTGGAAATGGCCCCCTGATGTCCAGAAGTAGAAGCGCTTTATGGAGGTGGAACAGGAGCGGGAGGCAACGGGCTCTTGAGGGATCAGTCTGGAATGCCCCTGCTGCTGGCC MGAASVRAGARLVEVALCSFTVTCLEVMRRFLLLYATQQGQAKAIAEEICEQAVVHGFSADLHCISESDKYDLKTETAPLVVVVSTTGTGDPPDTARKFVKEIQNQTLPVDFFAHLRYGLLGLGDSEYTYFCNGGKIIDKRLQELGARHFYDTGHADDCVGLELVVEPWIAGLWPALRKHFRSSRGQEEISGALPVASPASSRTDLVKSELLHIESQVELLRFDDSGRKDSEVLKQNAVNSNQSNVVIEDFESSLTRSVPPLSQASLNIPGLPPEYLQVHLQESLGQ|aldrvsyeqerktqteqgls* 18BR009 ENSG00000206077.11 ENSG00000248693.1(119456),ENSG00000249191.1(20993) -/- ./+ chr5:716801 chr5:18865629 3'UTR/splice-site intergenic inversion 1 3 0 54 5 high stop-codon . DHHC_palmitoyltransferase(100%)| . . ENSG00000206077.11 . ENST00000508859.7 . upstream upstream . ^(GCACTTGGTCGCGCGCGGCCGGGTCGCGGGGGAGCCTCCGCTGCAGTTGCTGCGTCTCCAAG___AGGAGGAGACCCACCCGGTGGACTTGAGCTCGCTCTCCAGTAAGCTACTCCCAGGCTTCACCACGCTGGGCTTCAAAGACGAGAGAAGAAACAAAG___TCACCTTTCTCTCCAGTGCCACTACTGCGCTTTCGATGCAGAATAATTCAGCATTTGGCGACTTGAAGTCGGACGAGTTGGAGCTGCTCTACTCAGCCTACGGAGATGAGACAGGCGTGCAGTGTGCGCCGAG___ATGGACACCCGCTCCGGGAGCCAGTGTTCCGTCACCCCAGAAGCCATACGCAACAATGAAGAGCTGGTCTTGCCGCCCCGCATCTCCAGAGTGAACGGCTGGTCGTTACCCCTGCACTACTTCCGGGTGGTGACTTGGGCTGTCTTCGTTGGCCTTTCCTTGGCCACCTTCAGGATCTTCATTCCCCTCCTGCCTCACTCGTGGAAATACATCGCCTATGTG___GTGACCGGGGGGATCTTCTCGTTCCACCTCGTCGTCCACCTGATCGCGTCCTGCATCGACCCGGCCGACTCCAATGTCAGACTCATGAAGAACTATTCTCAGCCCATGCCCCTCTTCGACAGATCAAAACATGCACACGTGATCCAGAATCAGTTCTGCCACCTGTGCAAGGTCACCGT___GAACAAGAAAACCAAACACTGCATTTCCTGCAATAAGTGTGTGTCCGGCTTCGACCACCACTGCAAATGGATCAACAACTGCGTGGGAAGCCGGAATTATTG___GTTCTTCTTCAGCACTGTGGCCTCGGCCACAGCTGGCATGCTCTGCCTGATCGCCATCCTGCTGTATGTCCTCGTCCAGTACCTCGTGAACCCCAGGGTGCTCCGCACGGACCCCAGGTATGAAG___ATGTCAAGAATATGAACACGTGGCTGCTGTTCCTCCCCCTGTTCCCGGTGCAGGTGCAGACTCTGATAGTCGTGATCATCAGGATGCTCGTGCTCCTGCTGGACCTTCTTGGCTTGGTGCAGCTGGGCCAGCTGCTCATCTTCCACATCTACCTGA___AGGCCAAGAAGATGACCACCTTTGAGTATCTCATTAATACCCGCAAAGAAGAGAGTTCAAAACATCAAGCAGTGAGGAAAGATCCATACGTGCAAATGGACAAAGGATTTCTCCAG___CAAGGAGCTGGCGCCCTGGGCTCATCTGCACAGGG___AGTCAAGGCCAAGAGCTCCCTGCTGATTTACAAATGCCCATGTCACTTCTGCACTTCAGTAAACCAGGACGGGGATTCGAAGGCACAG___)GAAGCAGATGATGCCCCGAGTACATCTACACTTGG___GCTGCAACAAGAAACAACAGAGCCCATGAAAACTGACAGTGCTGAAAGTGAAGACTGAGATTCGG|ACGAAGTCTTGTTCTGTTACCCTGCCTGAAGTATGGTGGTACGGTCATAGCTCACTGCATCTTCAAACTCCTGGATTCAAGCAATCTTATCACCTCAGCCTCATCAGTAGCTAGG . 18BR009 ENSG00000117481.10 ENSG00000152763.17 +/+ -/- chr1:46361696 chr1:66814180 CDS CDS/splice-site inversion 2 1 0 48 9 high in-frame . 16S_rRNA_methyltransferase_RsmB/F(100%)| . . ENSG00000117481.10 ENSG00000152763.17 ENST00000474844.5 ENST00000371026.8 downstream downstream duplicates(1) ^(CTCAGCTTCCCGAGTAGCTGGGACTGCAGGCGCCAGCAACCTCGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAGGGTCTCGATCTCCTGACCTCGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAGGTCCCGAAACTTAAGCTTCATTTGTTTCACTGCAAATCTGCTTCTGCCTACAAGCCTGGTCTCATTTTCCTCTACCTAAGGATCTTCCTCCATGCAATTTCGGCCTAGGAGGCCCTTCCCGCCCCTTTTCGCCTAGCTAACTCTTTCGGTACTCAACCACCAACTCCTAATCCTCCCTGGTCCCCCAAGTGGGCTAGGGGCTTCTTGGGAGTCCCTCGCACTGCTCTAAGCATCCAGGCAGAGTCATTATTCCGGGTGCCAGGTTGCTCTTTTTCCAGCAGCCTTCAGGGGACTCCTGGCTGGGCGGAGTCTGTAGAGGCGCGCGGAGTCCTGGGAGAGCGTCAGATGTATTTCCTTTCCCTTTTTTCGCTCGTGTCCCGCCGGGTGGCGCTCACCACCTCCCCGGAACACGCGAGTCTCCTGTCGCGGTTCCGGTCGGAATTACCCCGTGGAGCACGCCGATATGGCTGCGCTGACACTGAGGGGTGTCCGGGAGCTGCTGAAGCGTGTGGACCTCGCGACGGTCCCGCGGAGACATCGATATAAGAAGAAATGG___GCTGCCACAGAGCCCAAATTCCCTGCTGTTCGACTGGCTTTGCAGAATTTTGACATGACTTACAGTGTGCAGTTTGGAGATCTTTGGCCATCAATCCGTGTCAGTCTCCTCTCAGAGCAGAAGTATGGTGCACTGGTCAATAACTTTGCTGCCTGGGATCATGTAAGTGCTAAGCTGGAGCAGCTGAGTGCCAAGGATTTTGTGAATGAAGCCATCTCCCACTGGGAACTGCAGTCTGAGGGTGGCCAATCTGCAGCCCCATCCCCTGCCTCCTGGGCCTGCAGTCCGAACCTTCGATGCTTCACTTTTGACAGAGGGGATATCAGTCGCTTCCCTCCTGCCAG___ACCTGGCAGCCTGGGTGTCATGGAGTACTACCTGATGGATGCTGCCTCCTTGCTGCCTGTTCTGGCCCTCGGCCTGCAGCCTGGGGACATCGTGCTTGACCTATGTGCAGCTCCTGGGGGAAAGACACTAGCGTTGCTTCAGACTGGCTGTTGCC___GCAATCTTGCTGCCAATGATCTCTCCCCGTCCCGAATAGCCAGACTACAGAAGATCCTTCACAGCTATGTGCCTGAAGAGATCAGGGATGGAAATCAAGTTCGAGTTACCTCATGGGATGGCAGGAAATGGGGAGAACTGGAGGGGGACACCTATGACCGG___GTGCTGGTGGATGTGCCCTGTACCACAGACCGCCACTCCCTTCATGAGGAGGAGAACAACATCTTTAAGC)GGTCAAGGAAGAAGGAGCGACAGATATTGCCTGTGCTGCAAGTGCAGCTTCTTGC___GGCTGGACTCCTTGCCACCAAACCAGGAGGCCATGTTGTCTATTCTACCTGCTCACTCTCACACTTACAGAACGAGTATGTGGTGCAAGGTGCCATTGAGCTCCTGGCCAATCAATACAGCATCCAG|GGAGATATAATGGATACTTTGCTTGGATCCAAGTCAAACCAATCAGCATAATTCATCATTCCTAATATTTTTCTTGTAGTTGTTTTAAAAAAGGAATTAACATCCAATATTCTGTATTACATACTGTACACCAGATTTTGATTTCAGAAAACAATATTTGATGTATAACTTCCACTTAATTTAAATTTAATAAACTTTTATTTC(AGAGATATTTGATTAGTTTACAATCTAAGAGTTATTCTTAAGAGTTTCAGTGGAATTTTCTTAATTTTTCTAAAGATATTCCTACTCTCTTGATCATATTCTAAGTACATATGAGTACATGTACATTCTTATACAATGTCTAAATGGGTTAGAAAATTATTATACCTATAGAAGCGAAACTTGGAAATTAATAGAATCACTTAAACCAAAATCTTTATAAGACACAATTCTATTGATTTTAAAGCTTCTGCTTTCCAGGCTCTGTTTTCCAGAGTTTATAATTACGTAGTTTTTAGTAGATGAAAATAATGGATTCTTGTACCTAACATTTTATCCTCTTAGATCTAAGAGCCGAAGCTATAGAACTTTGTTAGACTATTTGGCAAGCAAAATATATGACAGTAAATATCAGAATTTTATGGTTTGACCAGCGCTTATCACATTCCCAATTCAGTGAGAAAAATTCATCTGGGACACAACAGGGTACTCTTCTCTGTTTGCCCAGAATCAGCTCTGGATTTTAAGCCCAGACTTCAGTGGACCCAGATAGAAAATATAAAGTCTCTGATCTATAGGCCACATCAGGATGTTATTTTATGAAGAGTTCTAGAGCAAGGTTGCGGAAATCGGGGTGGAGATGGGGAGCAGTGACTCCTCCAAATATTCATTGCTAACAGGCCATTCTATGCAGTTTGTTTTAACAAATCCTGGGTTAAACTGAGGCCACAGGACATGATGGGCTGTTCTATAAAGCATTCTAAGTGGAGAGGAGACGATAGGGCATATGAAATTCACTAAACTCTCTGGAAAAAAAATATGTATATATTAAAAACCAAGACTGGAATCAGTGCAACAGTGGGAACTACCTTTTACAAGTATCCATTGCTTCATAAACTCCATTTGTTTGGACCAATCCCTTAAACAAAAGCAAGGCAAATTTTACATGGATTTAGAGCCTAGGTCAGGTTATTAGGATTATAAATTTTCCACTGGTATGTCATTGTGATTATCTTTGTTTTTGTCTTTCTGAAAGATTGGATTTTCTATAACACCTTGTGTAAGAAAATAAAAAACTTGATCTAACTGAAAAAA)$ MAALTLRGVRELLKRVDLATVPRRHRYKKKWAATEPKFPAVRLALQNFDMTYSVQFGDLWPSIRVSLLSEQKYGALVNNFAAWDHVSAKLEQLSAKDFVNEAISHWELQSEGGQSAAPSPASWACSPNLRCFTFDRGDISRFPPARPGSLGVMEYYLMDAASLLPVLALGLQPGDIVLDLCAAPGGKTLALLQTGCCRNLAANDLSPSRIARLQKILHSYVPEEIRDGNQVRVTSWDGRKWGELEGDTYDRVLVDVPCTTDRHSLHEEENNIFKRSRKKERQILPVLQVQLLAAGLLATKPGGHVVYSTCSLSHLQNEYVVQGAIELLANQYSIQ|GDIMDTLLGSKSNQSA* 18BR009 ENSG00000177694.16 ENSG00000287178.1(3023),ENSG00000114279.13(16508) +/+ ./+ chr3:175324325 chr3:192122887 CDS/splice-site intergenic deletion 2 0 1 53 10 high out-of-frame . . . . ENSG00000177694.16 . ENST00000454872.6 . downstream upstream . ^(AGAAGGTCACAAAGCTTGCAGGGTAAGTGACACAACTTGAAACTGCTTGGCCCTCTTTAAAAAGAAATAATAAAATGGGAGAGAATGAAGCAAGTTTACCTAACACGTCTTTGCAAG___GTAAAAAGATGGCCTATCAGAAGGTCCATGCAGATCAAAGAGCTCCAGGACACTCACAGTACTTAGACAATGATGACCTTCAAGCCACTGCCCTTGACTTAGAGTGGGACATGGAGAAGGAACTAGAGGAGTCTGGTTTTGACCAATTCCAGCTAGACGGTGCTGAGAATCAGAACCTAGGGCATTCAGAGACTATAGACCTCAATCTTGATTCCATTCAACCAGCAACTTCACCCAAAGGAAGGTTCCAGAGACTTCAAGAAGAATCTGACTACATTACCCATTATACACGATCTGCACCAAAGAGCAATCGCTGCAACTTTTGCCACGTCTTAAAAATACTTTGCACAGCCACCATTTTATTTATTTTTGGGATTTTGATAGGTTATTATGTACATACAAATTGCCCTTCAGATGCTCCATCTTCAGGAACAGTTGATCCTCAGTTATATCAAGAGATTCTCAAGACAATCCAGGCAGAAGATATTAAGAAGTCTTTCAG___AAATTTGGTACAACTATATAAAAATGAAGATGACATGGAAATTTCAAAGAAGATTAAGACTCAGTGGACCTCTTTGGGCCTAGAAGATGTACAGTTTGTAAATTACTCTGTGCTGCTTGATCTGCCAGGCCCTTCTCCCAGCACTGTGACTCTGAGCAGCAGTGGTCAATGCTTTCATCCTAATGGCCAGCCTTGCAGTGAAGAAGCCAGAAAAGATAGCAGCCAAGACCTGCTCTATTCATATGCAGCCTATTCTGCCAAAGGAACTCTCAAG___GCTGAAGTCATCGATGTGAGTTATGGAATGGCAGATGATTTAAAAAGGATTA)GGAAAATAAAAAACGTAACAAATCAGATCGCACTCCTGAAATTAGGAAAATTGCCACTGCTTTATAAG___CTTTCCTCATTGGAAAAGGCTGGATTTGGAGGTGTTCTTCTGTATATCGATCCTTGTGATTTGCCAAAGACTGTGAATCCTAGCCATGATACCTTCATGGTGTCACTGAATCCAGGAGGAGACCCTTCTACGCCTGGTTACCCAAGTGTCG|AGAACATAGAGGAAGTAAGATTTCACAGAACAGAAAAAAAGTTTCTTCTGGAGCCAAAACAATAAAGAGGATCATGAGTCAAAGGGAGACTCCATTAGTTAAACGGCAATTGCTCAGAAGAAAAACTACTTCCTTTTCTTTACCAATAGCTACC MGENEASLPNTSLQGKKMAYQKVHADQRAPGHSQYLDNDDLQATALDLEWDMEKELEESGFDQFQLDGAENQNLGHSETIDLNLDSIQPATSPKGRFQRLQEESDYITHYTRSAPKSNRCNFCHVLKILCTATILFIFGILIGYYVHTNCPSDAPSSGTVDPQLYQEILKTIQAEDIKKSFRNLVQLYKNEDDMEISKKIKTQWTSLGLEDVQFVNYSVLLDLPGPSPSTVTLSSSGQCFHPNGQPCSEEARKDSSQDLLYSYAAYSAKGTLKAEVIDVSYGMADDLKRIRKIKNVTNQIALLKLGKLPLLYKLSSLEKAGFGGVLLYIDPCDLPKTVNPSHDTFMVSLNPGGDPSTPGYPSV|enieevrfhrtekkfllepkq* 18BR009 ENSG00000124275.15 ENSG00000186493.13(20840),ENSG00000249541.1(11214) +/+ ./+ chr5:7878322 chr5:2776237 CDS/splice-site intergenic duplication 1 2 0 66 5 high out-of-frame . Flavodoxin(100%)| . . ENSG00000124275.15 . ENST00000264668.6 . downstream upstream duplicates(1) ^(GGAGCTTTCTATTGGTCCTGGGTACCGAGCATGGGCGCTGCGTCAGTGCGCGCTGGCGCAAGGTTGGTGGAAGTCGCGTTGTGCAG___TTTCACTGTTACATGCCTTGAAGTGATGAGGAGGTTTCTGTTACTATATGCTACACAGCAGGGACAGGCAAAGGCCATCGCAGAAGAAATATGTGAGCAAGCTGTGGTACATGGATTTTCTGCAGATCTTCACTGTATTAGTGAATCCGATAAG___TATGACCTAAAAACCGAAACAGCTCCTCTTGTTGTTGTGGTTTCTACCACGGGCACCGGAGACCCACCCGACACAGCCCGCAAGTTTGTTAAGGAAATACAGAACCAAACACTGCCGGTTGATTTCTTTGCTCACCTGCGGTATGGGTTACTGG___GTCTCGGTGATTCAGAATACACCTACTTTTGCAATGGGGGGAAGATAATTGATAAACGACTTCAAGAGCTTGGAGCCCGGCATTTCTATGACACTGGACATGCAGATGACTGTGTAGG___TTTAGAACTTGTGGTTGAGCCGTGGATTGCTGGACTCTGGCCAGCCCTCAGAAAGCATTTTAGGTCAAGCAGAGGACAAGAGGAGATAAGTGGCGCACTCCCGGTGGCATCACCTGCATCCTCGAGGACAGACCTTGTGAAGTCAGAGCTGCT)ACACATTGAATCTCAAGTCGAGCTTCTGAGATTCGATGATTCAGGAAGAAAGGATTCTGAGGTTTTGAAGCAAAATGCAGTGAACAGCAACCAATCCAATGTTGTAATTGAAGACTTTGAGTCCTCACTTACCCGTTCGGTACCCCCACTCTCACAAGCCTCTCTGAATATTCCTGGTTTACCCCCAGAATATTTACAGGTACATCTGCAGGAGTCTCTTGGCCAG|CTATTTTGAAAGACACAATGTATCCTTGTTCCCTATAGCCACGGATGGAGTCCTAAATTGCAGTCATGGACACTATTTGGCTCTGTTTCGAGTCCAGCTGTTCATTTTTTATAGTCTCCTACTCCTT MGAASVRAGARLVEVALCSFTVTCLEVMRRFLLLYATQQGQAKAIAEEICEQAVVHGFSADLHCISESDKYDLKTETAPLVVVVSTTGTGDPPDTARKFVKEIQNQTLPVDFFAHLRYGLLGLGDSEYTYFCNGGKIIDKRLQELGARHFYDTGHADDCVGLELVVEPWIAGLWPALRKHFRSSRGQEEISGALPVASPASSRTDLVKSELLHIESQVELLRFDDSGRKDSEVLKQNAVNSNQSNVVIEDFESSLTRSVPPLSQASLNIPGLPPEYLQVHLQESLGQ|lf* 18BR009 ENSG00000239857.7 ENSG00000151136.15 +/+ +/+ chr7:887519 chr12:107520487 CDS/splice-site CDS/splice-site translocation 1 1 0 169 5 high in-frame . |Ankyrin_repeat(100%),Ankyrin_repeats_(3_copies)(100%),BTB/POZ_domain(100%) . . ENSG00000239857.7 ENSG00000151136.15 ENST00000265857.8 ENST00000280758.10 downstream upstream . ^(AGAAGGGCGTCGGGCGGCCGTCGGGACGGAAGCCGGGAGGCGCTGCCGACCGCGCCTGCGACAGCGTCAGCCCTGCGCGGAGCGCCGGCCCGATGGCGGCGGCGGCGGCGATGGCCGAGCAGGAGAGCGCCCGGAACGGCGGCCGCAACCGCGGCGGCGTCCAGCGTGTGGAGGGCAAGCTGCGCGCCAGCGTCGAGAAGGGCGACTACTACGAGGCGCACCAGATGTACCGGACCCTGTTCTTCAG___GTACATGTCCCAGAGCAAGCACACGGAGGCCCGGGAGCTCATGTACTCGGGAGCCCTGCTCTTCTTCAGCCATGGCCAG___CAAAACAGTGCAGCAGACTTGTCCATGCTGGTCCTGGAGTCCCTGGAGAAGGCGGAAGTGGAGGTGGCTGACGAG)CTGCTGG___AAAATCTGGCTAAAGTGTTCAGCCTGATGGACCCCAACTCTCCTGAGCGCGTGACCTTTGTGTCCAGAGCCCTGAAGTGGTCCAGTGGGGGCTCCGGGAAGCTGGGCCACCCCCGGCTGCACCAGCTGCTGGCCCTCACCCTGTGGAAAG|GGGTGCTGTGCCTACCAGACAGCCTGAATCTTCACAGAGACCCACAGCGGTCAAACAAGCCAGGGGAACTGCCCATGTTCAGCCAGTCGGAGCTGAGGACCATCGAGCAGTCTTTGCTGGCCACGCGCG(TAGGCAGCATCGCCGAATTGA___GTGACCTGGTGTCCCGTGCAATGCATCACCTGCAGCCCCTCAATGCCAAGCACCACGGCAATGGCACCCCCCTGCACCACAAGCAGGGGGCACTGTACTGGGAGCCCGAGGCCCTGTACACCCTTTGCTATTTCATGCACTGCCCACAAATGGAATGGGAAAACCCCAACGTGGAGCCTTCCAAAGTCAACCTCCAGGTGGAAAG___GCCCTTCCTCGTGCTGCCGCCGCTGATGGAGTGGATCCGGGTGGCCGTGGCGCACGCCGGCCACCGCCGCAGCTTCTCCATGGACAGCGACGACGTCCGCCAGGCGGCCCGGCTGCTGCTGCCCGGCGTGGACTGCGAGCCGCGCCAGCTCAG___GGCCGACGACTGCTTTTGTGCATCTCGAAAGCTGGATGCGGTGGCCATCGAAGCCAAGTTTAAGCAGGACCTGGGTTTCCGGATGCTGAACTGTGGACGAACAGACCTGGTGAAGCAGGCAGTGTCTCTGCTGGGGCCCGATGGGATCAACACCATGAGCGAACAG___GGCATGACTCCCCTGATGTATGCCTGCGTCCGTGGGGACGAGGCGATGGTTCAGATGCTGCTGGATGCCGGAGCTGACCTGAATGTGGAG___GTTGTCAGTACTCCTCATAAATATCCATCCGTCCACCCCGAGACCCGCCATTGGACGGCTCTGACTTTTGCTGTGTTGCATGGACATATTCCTGTAGTTCAG___CTCCTCCTGGATGCTGGGGCCAAGGTGGAAGGCTCAGTGGAGCATGGCGAGGAGAACTACTCGGAAACACCCCTCCAGCTGGCAGCTGCTGTAG___GAAATTTTGAGCTGGTTAGTTTGCTGTTGGAGCGTGGTGCCGATCCCCTGATAGGAACCATGTACAGGAATGGAATTTCTACAACCCCCCAGGGTGATATGAACTCTTTCAGCCAGGCTGCAGCCCACGGACACAG___GAATGTGTTCCGCAAACTGCTCGCCCAGCCAGAGAAGGAGAAGAGTGATATCCTGTCCCTGGAGGAGATTCTGGCCGAGGGGACTGACCTGGCGGAGACAGCCCCGCCCCCCTTGTGCGCCAGCCGCAACAGCAAGGCCAAACTGAGGGCCCTGAGGGAGGCCATGTATCACAGCGCTGAGCATGGCTACGTGGATGTCACAATTGATATCAGGAGCATAG___GCGTCCCGTGGACTCTGCACACGTGGCTGGAGTCTTTGCGGATCGCCTTCCAGCAGCACCGCAGGCCTCTCATCCAGTGCTTGTTAAAGGAGTTTAAGACCATTCAGGAGGAGGAATACACGGAGGAGCTCGTTACCCAAGGCCTGCCCCTGATGTTTGAGATCCTGAAAGCGAGCAAG___AATGAAGTGATCAGCCAGCAGCTGTGCGTCATCTTCACACACTGCTACGGGCCCTACCCCATCCCCAAGCTCACAGAAATCAAACGGAAACAGACCTCGCGCTTGG___ATCCTCATTTTCTTAACAATAAAGAAATGTCTGATGTTACATTTCTGGTAGAAGGAAGACCATTTTATGCTCACAAAGTGCTGTTATTTACAGCCTCTCCAAG___GTTCAAAGCACTCCTCTCCAGCAAGCCGACAAATGATGGCACCTGCATAGAGATTGGTTATGTGAAATACTCCATCTTTCAG___CTGGTTATGCAGTATCTCTACTATGGTGGCCCAGAGTCACTGCTCATTAAAAACAATGAGATCATGGAG___CTTCTGTCTGCTGCTAAGTTTTTCCAGCTGGAGGCTTTGCAGCGACACTGTGAGATTATCTGTGCGAAAAGCATCAATACCGACAACTGTGTGGATATTTACAACCATGCCAAG___TTTCTTGGAGTCACAGAGCTCTCAGCATATTGCGAAGGCTACTTTCTCAAAAACATGATGGTCCTCATTGAAAACGAAGCATTCAAGCAGCTCCTGTATGACAAAAATGGTGAAGGGACCGGCCAGGATGTGCTCCAGGACTTACAGAGGACGTTGGCCATCAGAATTCAGTCCATCCACTTGTCGTCTTCCAAAGGTTCCGTGGTATGAAACGCCTAGTGCAGGGAATGCTTCCCGGGAACTTTCCAGTTCTCCTGCCGCATTGGCTTTACACAAACACAGACAAATTCCACCTGGCACCTGTTTTTGGCTGGGCCAAGGAGCTGCCTCTACTGCTCCCACGTGTTCCTGTTGAAAAACAAAGGACTTTCCACTGGTCTGCAGATCAGATCAGCTGGGTCCAGAGTTTAATGGGCAACTGGACAACCAAGTTAACCCCAATTGAAAGCACCCCTAGGACCATTGAACACCCACTGCCGGGGACCACTGTCCAGTGAATGGATTGAGGCCTTTTAAAGGTCACTCAGGTTCCAGGTTGACAGTTGGAGGACTTCACCGTACCAACCCTGAAGAGATTGTATTACACATTAAGGACCTTGGTAGCTGTGCTTCAGCAAACGTCAACCATGGTAGCAAATTGGTGAGGCTGTGACCAATAATGAGGAAATAATCTGGCAAATTTTTAGGGGTGGGAACTTTTTTAAATGTTCATTTAAAAAAAAACAAAAACAGGGCAGTCTTGTAGTTTAAAATATATTTCTAAAAGCTTAACAGTTCGTTTTCAACTAAATTGTGTTTAGGGATCTGTGTTTGAGATTTTTCTTTATTTCTTTTTTTTTTTTAAATAGTAAGTCACAGGTCCACACTGTGTAAACATGCATCTGATAAGATACTGCTGATATTCTAAACAAGTTGAAATAATCTTGCCTTAGTGATCATGATTACACAAAAGAGGTGCACTGCCAATAAGTATCTCTAATTCAATAGTTGAAAGCAACCTGCATGCTAATCGTGGTTTCGGGGTGAGAATAAAACACCCCCACATAACATGCATTTGCATGGGCCCGAACCTGTGAAATGTTACGTTTGTGCTTCATTTTTGCCAAGGTAAAAATGTTCCATCATTTCTAGCTAAAACTCCATTTGGTGAAACCAACATATCCATTTCTTTTCCTAGTTACGGATGATTTGGGGATGCTTTTGCAGAAATGTGTTCATAGATGATGCTGAATGGGGGAGGGGGGCAGCACGTCAGAGAATTTACTATTAATCCCAGAGTTTTCTCTGTATTCTCAGAAGATGTTAATAGTTTGTTACTAGCCAGAGAGTATGACTATGTTAGATTATTTTTAAAGATGAAACATGTATGATAGGATGGATTCTTTCTGTATTCTGAGAGTGTACAGTACAGGATTATTATAATGAAAGTTTATATCAACAGGGTTTCGTTGGCTCTGCCATATATTATAAGCAAAAGAGATTGGTAAAGTGCCACAGTATTCCAGATAACTTTTCAGTTGCGGCCTTTCTTCTCGTTCTTTAATTTGAAACCTAGATACATGCAGTAAAAACTAGGAGAATGACTTTTACCCTTGGGGACAGCCAAGTTTTGTTGATAAACCTATTTCCTAGCATGCCTTCAGGAAGTTGTGCCAGACCCTAGATTGTGAAGGACCCACTGTTCTTCTGTTGTACGAGCTCCCTGAACCATTGTTCAGAGGACCAATGTCACATCGCTTCATGGGCATGGCCCATGGAGCATCTGGGTGATATCTGTCTACAGTATTGGCTCTTCTGCGAGGCTGATACACAAGGCCTCTCTTCCACATGATCATTTGCAAACCTCCCCCAGCCCCTACCATCCAATGTGGAAGGAAAACAAGAACTGCCTGAAGAAGAGTCCAAGCTACAGATACACAGCGTGTGCATTGCGGCTGTCACCTTCCTCCTCCCACTTCTGTATCCTCAGAGATGCTGCGTGGATGTTTCCTTAACCTCAGCTGACTTCCCTGTGAATGTCTAATGCTAGTTCAGGGCCTCCAGGCATTGATTTGTACAGTGGTAACTCCCAATGAGGCTTCTGTTATCATTTGGTGTGCTTTCTCTGTCATTAAAAGAAATGATTTTCCCAGGC)$ MAAAAAMAEQESARNGGRNRGGVQRVEGKLRASVEKGDYYEAHQMYRTLFFRYMSQSKHTEARELMYSGALLFFSHGQQNSAADLSMLVLESLEKAEVEVADELLENLAKVFSLMDPNSPERVTFVSRALKWSSGGSGKLGHPRLHQLLALTLWK|gVLCLPDSLNLHRDPQRSNKPGELPMFSQSELRTIEQSLLATRVGSIAELSDLVSRAMHHLQPLNAKHHGNGTPLHHKQGALYWEPEALYTLCYFMHCPQMEWENPNVEPSKVNLQVERPFLVLPPLMEWIRVAVAHAGHRRSFSMDSDDVRQAARLLLPGVDCEPRQLRADDCFCASRKLDAVAIEAKFKQDLGFRMLNCGRTDLVKQAVSLLGPDGINTMSEQGMTPLMYACVRGDEAMVQMLLDAGADLNVEVVSTPHKYPSVHPETRHWTALTFAVLHGHIPVVQLLLDAGAKVEGSVEHGEENYSETPLQLAAAVGNFELVSLLLERGADPLIGTMYRNGISTTPQGDMNSFSQAAAHGHRNVFRKLLAQPEKEKSDILSLEEILAEGTDLAETAPPPLCASRNSKAKLRALREAMYHSAEHGYVDVTIDIRSIGVPWTLHTWLESLRIAFQQHRRPLIQCLLKEFKTIQEEEYTEELVTQGLPLMFEILKASKNEVISQQLCVIFTHCYGPYPIPKLTEIKRKQTSRLDPHFLNNKEMSDVTFLVEGRPFYAHKVLLFTASPRFKALLSSKPTNDGTCIEIGYVKYSIFQLVMQYLYYGGPESLLIKNNEIMELLSAAKFFQLEALQRHCEIICAKSINTDNCVDIYNHAKFLGVTELSAYCEGYFLKNMMVLIENEAFKQLLYDKNGEGTGQDVLQDLQRTLAIRIQSIHLSSSKGSVV* 18BR009 ENSG00000204272.13 ENSG00000110435.12(122925),ENSG00000255521.2(13602) +/+ ./+ chrX:56732199 chr11:35119053 3'UTR/splice-site intergenic translocation 1 1 0 70 6 high stop-codon . . . . ENSG00000204272.13 . ENST00000374922.9 . downstream upstream duplicates(1) ^(GAAACAGGAGGAAGCCAGCTCTGTGCCTGGAGGGGACTCGCCGCCATCTCAGGTCTCTTGGCTTTGCCAGGGCCCACCGGAGAAAACTGACGACCCGTTTCTGTAATCCTTATGGGAGACCAACCTTGTGCCTCCGGGAGATCCACTCTCCCACCTGGAAACGCACGGGAAGCCAAGCCTCCAAAAAAGCGCTGCCTCCTCGCTCCGCGTTGGGATTATCCGGAAGGAACTCCCAACGGAGGTAGTACCACTCTACCCTCCGCACCTCCTCCTGCATCAGCCGGCCTGAAGTCGCACCCTCCTCCTCCGGAGAAGTAGAGAAATAAATTTCTCCCACCCTAAACCAG___TCTTTGAGTGATTGCAGTATGA)CTCCATTTCCCTGGTGCATTCATATAATAGTTCACCTGGTGAAAACAATGAAGATTATTTACAATGCTACCCTGCTTTTTCTGGTGTCCTGAACCTGGAAGTTGTGCTTTTTAAG|GTGCAGCTGACAGCCAGCTTGCAACCACAAGGATGGCCACCATGAAGTCAAAGGAGAACTGAGAGAAGAACCAAGAAACAGACCAGGAACCCTGACCGAACTGCTCTGAAAAGCCCCTGCTTCTGGACTCCATTGTGTAAAATACATTTCCCCGTTGCCTAAGCCTGG . 18BR009 ENSG00000249456.1 ENSG00000127481.15 +/+ -/- chr10:124917272 chr1:19099677 exon/splice-site CDS/splice-site translocation 0 13 0 9 140 medium . . |E3_ubiquitin-protein_ligase_UBR4(100%) . . ENSG00000249456.1 ENSG00000127481.15 ENST00000508096.1 ENST00000375254.8 downstream downstream duplicates(2) ^(CTCGACTCGTAGCCGCGGGCTGCGCGGGGAGTCGC)CGCcGCtGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCAAGCGCCCGTCGGACGGGGAGGAGGAGCAGGAGCTGGAGGAGGAGCCGCCGCCGCCAG|CTTCTAGTGAACAATAAAATCATTAGTTTGGACCTTCCTGTGGCTGAAGTTTACAAGAAAGTCTGGTGTACCACGAATGAG___GGAGAGCCCATGAGGATTGTTTATCGTATGCGGGGG(CTGCTGGGCGATGCCACAGAGGAGTTCATTGAGTCCCTGGACTCTACTACAG___ATGAAGAAGAAGATGAAGAAGAAGTGTATAAAATGGCTGGTGTGATGGCCCAGTGTGGGGGCCTGGAATGCATGCTTAACAGACTCGCAGGGATCAGAGATTTCAAGCAGGGACGCCACCTTCTAACA___GTGCTACTGAAATTGTTCAGTTACTGCGTGAAGGTGAAAGTCAACCGGCAGCAACTGGTCAAACTGGAAATGAACACCTTGAACGTCATGCTGGGGACCCTAAACCTG___GCCCTTGTAGCTGAACAAGAAAGCAAGGACAGTGGGGGTGCAGCTGTGGCTGAGCAGGTGCTTAGCATCATGGAGATCATTCTAGATGAGTCCAATGCTGAGCCCCTGAGTGAGGACAAG___GGCAACCTCCTCCTGACAGGTGACAAGGATCAACTGGTGATGCTCTTGGACCAGATCAACAGCACCTTTGTTCGCTCCAACCCCAGTGTGCTCCAGGGCCTGCTTCGCATCATCCCGTACCTTTCCTTTGGAGAGGTGGAGAAAATGCAGATCTTGGTGGAGCGATTCAAACCATACTGCAACTTTGATAA___ATATGATGAAGATCACAGTGGTGATGATAAAGTCTTCCTGGACTGCTTCTGTAAAATAGCTGCTGGCATCAAGAACAACAGCAATGGGCACCAGCTGAAGGATCTGATTCTCCAGAAGGGGATCACCCAGAATGCACTTGACTACATGAAAAAGCACATCCCTAGCGCCAAGAA___TTTGGATGCCGACATCTGGAAAAAGTTTTTGTCTCGCCCAGCCTTGCCATTTATCCTAAGGCTGCTTCGGGGCCTGGCCATCCAGCACCCTGGCACCCAG___GTTCTGATTGGAACTGATTCCATCCCGAACCTGCATAAGCTGGAGCAGGTGTCCAGTGATGAGGGCATTGGGACCTTGGCAGAGAACCTGCTGGAAGCCCTGCGGGAACACCCTGACGTAAACAAGAAGATTGACGCAGCCCGCAGGGAGACCCGGGCAGAGAAGAAGCGCATGGCCATGGCAATGAGGCAGAAGGCCCTGGGCACCCTGGGCATGACG___ACAAATGAAAAGGGCCAGGTCGTGACCAAGACAGCACTCCTGAAGCAGATGGAAGAGCTGATCGAGGAGCCTGGCCTCACGTGCTGCATCTGCAGGGAGGGATACAAGTTCCAG___CCCACAAAGGTCCTGGGCATTTATACCTTCACGAAGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAACAGCAGGGCTACAGCACCGTGTCCCACTTCAACATTGTGCACTACGACTGCCATCTGGCTGCCGTCAG___GTTGGCTCGAGGCCGGGAAGAGTGGGAGAGTGCCGCCCTGCAGAATGCCAACACCAAGTGCAACGGGCTCCTTCCGGTCTGGGGACCTCATGTCCCTGAATCAGCTTTTGCCACTTGCTTGGCAAG___ACACAACACTTACCTCCAGGAATGTACAGGCCAGCGGGAGCCCACGTATCAGCTCAACATCCATGACATCAAACTGCTCTTCCTGCGCTTCGCCATGGAGCAGTCGTTCAGCGCAGACACTGGCGGGGGCGGCCGGGAGAGCAACATCCACCTGATCCCGTACATCATTCACACTGTGCTTTACGTCCTGAACAC___AACCCGAGCAACTTCCCGAGAAGAGAAGAACCTCCAAGGCTTTCTGGAACAGCCCAAGGAGAAGTGGGTGGAGAGTGCCTTTGAAGTGGACGGGCCCTACTATTTCACAGTCTTGGCCCTTCACATCCTGCCCCCTGAGCAGTGGAGAGCCACACGTGTGGAAATCTTGCGGAGGCTGTTGGTGACCTCGCAGGCTCGGGCAGTGGCTCCAGGTGGAGCCACCAG___GCTGACAGATAAGGCAGTGAAGGACTATTCCGCTTACCGTTCTTCCCTTCTCTTTTGGGCCCTCGTCGATCTCATTTACAACATGTTTAAG___AAGGTGCCTACCAGTAACACAGAGGGAGGCTGGTCCTGCTCTCTCGCTGAGTACATCCGCCACAACGACATGCCCATCTACGAAGCTGCCGACAAAGCCCTGAAAACCTTCCAGGAGGAGTTCATGCCAGTGGAGACCTTCTCAGAGTTCCTCGATGTGGCCG___GTCTTTTATCAGAAATCACCGATCCAGAGAGCTTCCTGAAGGACCTGTTGAACTCAGTCCCCTGACCACCACACAGCAGCTGCGGCGGCGAAGACGAAGCTGGCTTGCCTTCCACCCTCTGTTCTCCCTCCTTGTGCATTAAGTTCCCTCCGCGGGATGCTGCATTGTTACCCCGCCCTCCCCTCTCTCATTTTTCTTGGTGTGGCTTGGGGTTTTTAGGCTTCCTGTTTTATCTCGTGTGTGTGGTGCACCAGCTATGAGGTTGTCTGTAACCCAAGCCATCAAAGGGCCTGTACATACCTAGGAGCCATGAGTTGTCCCGGCCAGCTTCATACTTGAGTGTGCACATCTTGAGAAATAAACAAGTGACTTAACACACATTGAAAA)$ . 18BR009 ENSG00000249456.1 ENSG00000127481.15 +/+ -/- chr10:124927426 chr1:19099758 intron intron translocation 1 2 0 4 6 medium . . |E3_ubiquitin-protein_ligase_UBR4(100%) . . ENSG00000249456.1 ENSG00000127481.15 . ENST00000375254.8 downstream downstream duplicates(1) ATTCCCTGGATATATGAAGAAATTATCCCTATTCTGCAGCAGAAGGAAAGGATCTCTCTTAGTGTTGCACAGTAAAAGTTGAAACAATACACTTGTGAGTGGAATTCTGAAGACATCACTTCTGTGATTTTT|GCCGTAAGGTGCCCTTTGCTCTTGGATTTTACTTGTCTTACAATTATTTGGAACAACAGCTTCACCTGCTTTTCTGTTCAGCTTCTAGTGAACAATAAAATCATTAGTTTGGACCTTCCTGTGGCTGAAGTTTACAAGAAAGTCTGGTGTACCACGA(ATGAG___GGAGAGCCCATGAGGATTGTTTATCGTATGCGGGGGCTGCTGGGCGATGCCACAGAGGAGTTCATTGAGTCCCTGGACTCTACTACAG___ATGAAGAAGAAGATGAAGAAGAAGTGTATAAAATGGCTGGTGTGATGGCCCAGTGTGGGGGCCTGGAATGCATGCTTAACAGACTCGCAGGGATCAGAGATTTCAAGCAGGGACGCCACCTTCTAACA___GTGCTACTGAAATTGTTCAGTTACTGCGTGAAGGTGAAAGTCAACCGGCAGCAACTGGTCAAACTGGAAATGAACACCTTGAACGTCATGCTGGGGACCCTAAACCTG___GCCCTTGTAGCTGAACAAGAAAGCAAGGACAGTGGGGGTGCAGCTGTGGCTGAGCAGGTGCTTAGCATCATGGAGATCATTCTAGATGAGTCCAATGCTGAGCCCCTGAGTGAGGACAAG___GGCAACCTCCTCCTGACAGGTGACAAGGATCAACTGGTGATGCTCTTGGACCAGATCAACAGCACCTTTGTTCGCTCCAACCCCAGTGTGCTCCAGGGCCTGCTTCGCATCATCCCGTACCTTTCCTTTGGAGAGGTGGAGAAAATGCAGATCTTGGTGGAGCGATTCAAACCATACTGCAACTTTGATAA___ATATGATGAAGATCACAGTGGTGATGATAAAGTCTTCCTGGACTGCTTCTGTAAAATAGCTGCTGGCATCAAGAACAACAGCAATGGGCACCAGCTGAAGGATCTGATTCTCCAGAAGGGGATCACCCAGAATGCACTTGACTACATGAAAAAGCACATCCCTAGCGCCAAGAA___TTTGGATGCCGACATCTGGAAAAAGTTTTTGTCTCGCCCAGCCTTGCCATTTATCCTAAGGCTGCTTCGGGGCCTGGCCATCCAGCACCCTGGCACCCAG___GTTCTGATTGGAACTGATTCCATCCCGAACCTGCATAAGCTGGAGCAGGTGTCCAGTGATGAGGGCATTGGGACCTTGGCAGAGAACCTGCTGGAAGCCCTGCGGGAACACCCTGACGTAAACAAGAAGATTGACGCAGCCCGCAGGGAGACCCGGGCAGAGAAGAAGCGCATGGCCATGGCAATGAGGCAGAAGGCCCTGGGCACCCTGGGCATGACG___ACAAATGAAAAGGGCCAGGTCGTGACCAAGACAGCACTCCTGAAGCAGATGGAAGAGCTGATCGAGGAGCCTGGCCTCACGTGCTGCATCTGCAGGGAGGGATACAAGTTCCAG___CCCACAAAGGTCCTGGGCATTTATACCTTCACGAAGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAACAGCAGGGCTACAGCACCGTGTCCCACTTCAACATTGTGCACTACGACTGCCATCTGGCTGCCGTCAG___GTTGGCTCGAGGCCGGGAAGAGTGGGAGAGTGCCGCCCTGCAGAATGCCAACACCAAGTGCAACGGGCTCCTTCCGGTCTGGGGACCTCATGTCCCTGAATCAGCTTTTGCCACTTGCTTGGCAAG___ACACAACACTTACCTCCAGGAATGTACAGGCCAGCGGGAGCCCACGTATCAGCTCAACATCCATGACATCAAACTGCTCTTCCTGCGCTTCGCCATGGAGCAGTCGTTCAGCGCAGACACTGGCGGGGGCGGCCGGGAGAGCAACATCCACCTGATCCCGTACATCATTCACACTGTGCTTTACGTCCTGAACAC___AACCCGAGCAACTTCCCGAGAAGAGAAGAACCTCCAAGGCTTTCTGGAACAGCCCAAGGAGAAGTGGGTGGAGAGTGCCTTTGAAGTGGACGGGCCCTACTATTTCACAGTCTTGGCCCTTCACATCCTGCCCCCTGAGCAGTGGAGAGCCACACGTGTGGAAATCTTGCGGAGGCTGTTGGTGACCTCGCAGGCTCGGGCAGTGGCTCCAGGTGGAGCCACCAG___GCTGACAGATAAGGCAGTGAAGGACTATTCCGCTTACCGTTCTTCCCTTCTCTTTTGGGCCCTCGTCGATCTCATTTACAACATGTTTAAG___AAGGTGCCTACCAGTAACACAGAGGGAGGCTGGTCCTGCTCTCTCGCTGAGTACATCCGCCACAACGACATGCCCATCTACGAAGCTGCCGACAAAGCCCTGAAAACCTTCCAGGAGGAGTTCATGCCAGTGGAGACCTTCTCAGAGTTCCTCGATGTGGCCG___GTCTTTTATCAGAAATCACCGATCCAGAGAGCTTCCTGAAGGACCTGTTGAACTCAGTCCCCTGACCACCACACAGCAGCTGCGGCGGCGAAGACGAAGCTGGCTTGCCTTCCACCCTCTGTTCTCCCTCCTTGTGCATTAAGTTCCCTCCGCGGGATGCTGCATTGTTACCCCGCCCTCCCCTCTCTCATTTTTCTTGGTGTGGCTTGGGGTTTTTAGGCTTCCTGTTTTATCTCGTGTGTGTGGTGCACCAGCTATGAGGTTGTCTGTAACCCAAGCCATCAAAGGGCCTGTACATACCTAGGAGCCATGAGTTGTCCCGGCCAGCTTCATACTTGAGTGTGCACATCTTGAGAAATAAACAAGTGACTTAACACACATTGAAAA)$ . 18BR009 ENSG00000276293.4 ENSG00000008294.21 -/- -/- chr17:38799266 chr17:51007326 CDS/splice-site CDS/splice-site duplication 11 0 0 63 100 medium out-of-frame . |JNK-interacting_protein__leucine_zipper_II(100%) . . ENSG00000276293.4 ENSG00000008294.21 ENST00000619039.4 ENST00000262013.12 upstream downstream mismatches(2) ^(TTGCGGGAAAGAGCCAAACCCTGGCGTTGGGGGGCCCGGGCGGGGAGCCCCTCCCGCGGTCCACAGCGACGCCTGCCCAGCCCTCCTCCCCTTCCGGCTCCGGCACGGGGCCCCGAGGCGTTCGGAGGCCAGGCGGGTTTCTGTCAGGCCCGGGGAGGAGGGGCGGGCGGGGCGGCCGCTGCCTCCCCGGGACGGGCCGTACCACGCGGACGGGGAGGACGGGGCCAGGGGACTGCAGGGCGGCTGCACCGCCCGGGGGCGGGGTGCGGAGCGGGCCGGCGGGCTCCCCGGGGCGGGGCGGGAGGGCGGGGCGTGGGGCGGACGGAACCACCGGGGCGGGGTGGGAGGTAACGGGACGGGCGCGACCATGGCGCGGTGAGGGAGCGGGGGTGGGGATCGGTCCGGGGGAGGCCTGAGGCCGCTGGCTT)GTGCGCTGTCTCCGCCGCCCCCCTCTTTCGCCGCCGCCGCCGCCGCCCCGGGCATGTCGTCCAACTGCACCAGCACCACGGCGGTGGCGGTGGCGCCGCTCAGCGCCAGCAAGACCAAGACCAAGAAGAAGCATTTCGTGTGCCAGAAAGTGAAGCTATTCCGGGCCAGCGAGCCGATCCTCAGCGTCCTGATGTGGGGGGTGAACCACACG|GAATGGGTCGGGAAGTTGAGAATCTTATATTAGAAAATACACAACTGTTGGAAACCAA(___AAATGCTTTGAACATAGTGAAGAATGATTTGATAGCAAAAGTGGATGAACTGACCTGTGAGAAAGATGTGCTGCAAGGGGAATTGGAGGCTGTGAAGCAAGCCAAACTGAAACTAGAGGAAAAGAACAGAGAATTGGAGGAAGAGCTTAGGAA___AGCTCGGGCAGAAGCTGAAGATGCAAGGCAAAAAGCAAAAGATGACGATGAT___AGTGATATTCCCACAGCCCAGAGGAAACGGTTTACTAGAGTAGAAATGGCCCGTGTTCTCATGGAGCGAAACCAGTATAAAGAGAGATTGATGGAGCTTCAGGAAGCTGTTCGATGGACAGAGATGATTCG___GGCATCACGAGAAAATCCAGCCATGCAGGAAAAAAAAAGGTCAAGCATTTGGCAGTT___TTTCAGCCGACTTTTCAGCTCCTCAAGTAACACGACTAAGAAGCCTGAACCACCTGTTAATCTGAAGTACAATGCACCCACGTCTCATGTTACTCCGTCCGTCAAGAAAAGAAGCAGCACCTTATCTCAGCTCCCTGGGGATAAGTCCAAAGCCTTTGATTTCCTTAGTGAAGA___AACTGAAGCTAGTTTAGCCTCACGCAGAGAACAAAAGAGAGAGCAGTATCGTCAGGTAAAAGCACATGTTCAGAAGGAAGACGGTAGAGTGCAGGCTTTTGGCTGGAGTCTGCCTCAGAAGTACAAACAG___GTAACCAATGGTCAAGGTGAAAATAAGATGAAAAATTTACCTGTGCCTGTCTATCTCAGACCTCTGGATGAAAAAGATACATCAATGAAG___CTGTGGTGTGCTGTTGGAGTCAATTTATCTGGTGGGAAGACCAGAGATGGTGGTTCTGTTGTTGGAGCAAGTGTATTTTACAAGGATGTTGCTGGTTTGGATACAGAAGGCAGTAAACAGCGAAGTGCCTCTCAGAGTAGTTTAGATAAGTTAGATCAGGAACTTAAG___GAACAGCAGAAGGAGTTAAAAAATCAAGAAGAATTATCCAGTCTAGTTTGGATCTGTACCAGCACTCATTCGGCTACAAAAGTTCTTATTATTGATGCTGTTCAACCTGGCAACATCCTAGACAGTTTCACTGTTTGCAACTCTCATGTTCTGTGCATTGCAAGTGTGCCAG___GTGCACGAGAAACAGACTACCCTGCAGGAGAAGATCTTTCAGAATCTGGTCAGGTAGACAAAGCATCTTTATGTGGAAGTATGACAAGCAACAGCTCAGCAGAGACAGACAGCCTGTTAGGAGGCATCACAGTGGTTGGTTGTTCTGCAGAAGGTGTGACGGGAGCTGCCACTTCCCCTAGTACAAATGGTGCTTCTCCAGTGATGGATAAACCACCAG___AAATGGAAGCAGAAAATAGTGAGGTTGATGAAAATGTTCCAACAGCAGAAGAAGCAACTGAAGCTACAGAAGGGAATGCGGGGTCAGCTGAAGACACAGTGGACATCTCCCAAACTGGCGTCTACACAGAGCATGTCTTTACAGATCCTTTGGGAGTTCAGATCCCAGAAGACCTCTCCCCAGTGTATCAGTCGAG___CAATGACTCAGATGCATATAAAGATCAAATATCAGTACTGCCAAATGAACAAGACTTGGTGAGAGAAGAAGCCCAGAAAATGAGTAGTCTTTTACCAACTATGTGGCTTGGAGCTCAAAATGGCTG___TTTGTATGTCCATTCATCTGTAGCCCAGTGGAGGAAATGTCTCCATTCCATTAAACTTAAAGATTCGATTCTCAGTATTGT___ACACGTGAAGGGAATCGTGTTAGTAGCCCTGGCTGACGGCACCCTTGCAATCTTTCACAGAGGAGTGG___ATGGGCAGTGGGATTTGTCAAACTATCACCTCTTAGACCTTGGACGGCCTCATCATTCCATCCGTTGCATGACTGTGGTACATGACAAAGTCTGGTGTGGCTATAGGAACAAAATCTATGTGGTGCAGCCAAAGGCCATGAAAATAGAG___AAATCTTTTGATGCACATCCCAGGAAGGAGAGCCAAGTGCGACAGCTTGCGTGGGTGGGGGATGGCGTGTGGGTCTCCATTCGCTTGGATTCTACGCTCCGTCTCTATCATGCACACACTTATCAACATCTACAGGATGTGGACATTGAGCCTTATGTAAGCAAAATGTTAG___GTACTGGAAAACTGGGCTTCTCTTTTGTGAGAATTACAGCTCTTATGGTGTCTTGTAATCGTTTGTGGGTGGGGACAGGAAATGGTGTCATTATCTCCATCCCATTGACAGAAA___CAAATAAAACCTCAGGTGTACCAGGAAATCGTCCTGGAAGTGTAATCCGTGTATATGGTGATGAAAACAGTGATAAAGTGACTCCAGGGACATTTATACCCTATTGTTCAATGGCACATGCACAGCTTTGCTTCCATGGGCACCGGGATGCTGTGAAATTCTTTGTGGCAGTCCCAG___GTCAAGTCATCAGCCCACAAAGTAGCAGTAGTGGCACGGATCTGACGGGTGACAAAGCAGGGCCATCTGCACAGGAGCCTGGTAGTCAGACGCCCTTGAAGTCTATGCTTGTCATCAGTGGAGGAGAGGGCTACATCGACTTCCGAATGG___GTGATGAAGGTGGAGAATCAGAACTTCTTGGAGAGGATCTTCCACTTGAACCTTCTGTCACCAAAGCAGAAAGGAGTCACTTGATAGTGTGGCAAGTGATGTATGGCAATGAGTGAGCCCATGGGAAACAGGTGGAGATGGGGAAGCCGTCTCTTCTGCATGGTTTATTTTCCCTCTATCCTTTTATTTAATGCTCTTTTGTGAGATAAGTTTCACCACATAATGTGTGAGCATTTTTTCCTGTTAACTTTATATTACAAAATCCGTTCTACCATAACAATACAGAGGAACTAGCTGTGTTACTGCACCAGTGTTATAGGTAACTTCAGTATATTATGAACAAATCAAAGAATGTTTACTTCCTGCAAACTGGTGAATTATAGAAAGCAATCCAGATGTGGTTTACTCTGCCACAGTCTAATGTCATTCACTTCATTTGATGGGGTCACTTGTTAGCTGTCACTAATAATGGAATTAATGGGAAACACTTGATAAATGAAACTGTACCGTTAAATACAATAGCTGAGTTTTCCCCAGTGTATTGTAAAATTGACACACACTAATACAAGATGGATTATCAGGATGTATCTAAATGTCCCGAGAGGGTTAAAAGCTAACTGTAAATTACTTTAACTTTCACTTTCAAATCTGACAAATCTTGTTTATATGGTATATAAAACTTTGTTTTCATCAGATTTGGGGGGGTTTTATATTAAAGAAATTAAGACTACACTATTTAAATAAACGTTTCCTGTTTCTGACTTATTAGAGCTCTAAAGTTTATGAGGCCTACTTCTCTGAATATTCTGATGGGTTTTTTTTGAGACCAGTCTCATTTTCATACTGACATGTCTGAAAGATTTATTATTTATAAAGCTTAGGACATACTCTGGGAAGCTTAGAAGATACTTCAGCACTGGGAGGATTTTTTAAAGGAAATGTGTTTTGTATTTCTTGTACCAGAGAATGGTGATGTTGATTGAGTTTTTTCCATGTAAAAAATGTACTTGTTTGCCAAATGTTCCTAGATTGCTCTTAACCTGTTAATACAAGTAAAACTGTAGTGGGGATGGAGTCTGGCCTAAGTACAGAATGAGGGATTTAATTAGAAAAGTTATTTTCTTTTGTTCTGTATCAAACTGCAGAACAGCTATATACTTGGTATTTTGTACGTGAATAACGTTTTAGCTTTTGTGCCCTTTTGAGCTTGAAGGGTTATCCTCAAAGGGGAAAACTATGAAGGGGAAGAAGACAAACCTAAGATACCATAAAGTAAAGGTTGACATTACATATTTTCATTCACAATGCCCATTAAAAAAAAAAAATAGGTTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTAGGAGGCTGAGGCAGATGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACCAAAAAAAAAAAACAAAATAAATTAACCGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATGACCTGGGCCCAGGAGGTGGAGGTTGCAGTGAGCCTTGATAGCACCACTGCACTCCAGCCTGGGTGACGGAGCAAGACCCTGTCTCAAAACAGACAAACAAGCAAAAAATAGATTAAAGTCTGGATTTCACTGATTTTCTTGCTTAATAAGTTTTTTAAAACCACGATGCTGCAATTTTTTCCCTCTCAAGCTTCTTGAAAATGTGTGATTTACCCTTTTTTATCTATTACTCTAGGCAAAGCTAAATATGATTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCTCAGGTTCAAGTAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCCTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCTACCCGCCTTGGCCTCCCGAAGTGCTTGAATTACAGGCGTGAGCCCCCGCGCCGGTCCGAAGCAAAGCTAAATGTAATTTTATGTACTGTTTTAACAGTATAAACCTATGGGATAAAGGCCCCCAATCATCAGAAGGACTACTGAAAAGAAAAGAAAGCAAACGTAGATGTCAAATTGTCTAAACATTCTTAAGTACCACTGATTTTTTTTTTCTGGACTATTATACAAAGATGTCTGTAAAAAGTATACCAGTGGCTTTTATGCATATACACGATTAGGCTAGATTGTGAAGTACATGGGATTTCATGAGCCAGAGGAGGCATTTGGATCCATTGGGCCACATGTGACTATAAGCACATTGTGTACACAATAAAATTGTAGCCACTCATGTATTAAAACTGTTTTGGTAAAAGCTGTATTAAAAGAATAATTTTTTGCTTGAGCTACTTAGTCACTTTTTTGCAGGGCACCAAAATGTAGGCTACTTTTCCATAGCTTGTTTGCTATGTTTTTATTTCATCTTAAATCTGAGCCATTTTTGGCAATATCTTTTAAAAAATCATTATTAAACATTTATTGGAAATGTTGTATAGATTCACAAGAAAGAGACACCAAAGTGTTTGGGAATTTTAATCCCAAGAAGTAAACATCCCAGAGTCAGATCCCATTTGCTGTTGTTCAGCCATGTTTGTATGACTGAATGTAATTTAGGAAATCAGGAGTTAGAGATGAAAAATACAAACATGTCAAATGGTTGTAATTGCTTTTTTTGAACTTACTGGCTTTAACTTAAGTAATATAGGTGTGTAGTTGTTTTATCTAAAGATGTCAGATTATCTGTGGCCCTGTTAATTAACTGCAGGGACCAGAGAGAGGACAAAAATGCCTGTATAATTTGCTTTAAAGGCTTGTCCTTATGTTTGTAATTTCAGTTAAATATTTTCTACAGATTGCTTCACTTCCCCTTTCCCCCAATAACAAGTTCATATTCTTGTAATGTTTACTTTGGTCAACGTGGTAATTTTTGGAAGAAAATGCCAAAATGTAAGCTTCTCACAAGCAGCAAAGGAATGTAACTGCCTGTAGCTACCACATCAAGGGAGAGAAGAGGCTTGCGTACTTTGGGTTGATCTCACTGTACAAAAAAAGTGTACCCCTATTGGAAGAAATAAGGAATACTTGAAGGTTTCTCCTTTTTTTACACTTGAGTCATGTGCAAGGTTGAACCATATGAAATTGCCAGTGTTCAACCATTGCTGATCTGCAAAAGCGACAATATCATATGCCTCAACCTAACACTTACTCTTAAATGCAGGTTAAAATCTCTGTGAGGCAAAGGGATAATATTCTCTAGGAACTCACTTTTGAGAGTATTTTTCTCTAACCCATGTGGATCTAAATTTTAAAAATAGGAATGAATCTCTTAATTGCAGCTTGTGGAGAGTATAAAACATTTTGAGCACAATATGCAGCACATAACTTTTCAGATTGTGTTTGCATAGAAAAGGTTAAAATCAATTCTTTCAGTTACTGTATTGTTCATTTCTTGTAAAGGTCTTCCTACATTTGAGACGAGACCCTTTAACATAGGCTGCCTTAGTAACAAAATAAAACAGATGTGTCATAATATTAACTGTCCTAAAGAACATGTGTCTTGCAAATGCCATGGAACTGAATATTTATTTCCTTGTGAGTATTATGACCGTTACCAAAGGACTCAACCAGATTTAGGGCTCTTCTTAATTGATCATGTTCAGAAAGGGACTCATTTGGTCCCACTTTGTAACATGGGAAGAGTAGAAGAGAAAATTAAATGTGGAAATCATAAATGCTTTTCTAACAGGGTTATGCTATTCTGTAACACTAAATGTCTGTCTTTTCTCTTAAAAGATTAAGTTTTATTAATTTTGTCATACATTTCTCTATTTGAATATATCTTAACCATTTTATGTTCCAAATTCGTTTTTTGTCCAAGACATTCTATCAGAATTTTACTTGCCTCTATAATCTGAAAAATGGGTTCTAGAATGTCCCACTTGCTGTCTCTTAGAGGCTGAGCTTCATTTCTATGAGCAAAGAGCTCATTTAGCAATGTAGTTATTTCAGTATTTATTTCTATTATGGAATCCCTGGGGTTCAGAATGTAACTTTGTACATGAGATATATATAAATATGTATATGAACATGTA)$ MSSNCTSTTAVAVAPLSASKTKTKKKHFVCQKVKLFRASEPILSVLMWGVNHT|ewvgklrily* 18BR009 ENSG00000244437.1 ENSG00000224078.15 -/- +/+ chr2:89085175 chr15:25218179 3'UTR/splice-site intron translocation 11 0 0 5918 0 medium out-of-frame . Immunoglobulin_V-set_domain(100%)| . . ENSG00000244437.1 ENSG00000224078.15 ENST00000390252.2 . upstream upstream duplicates(79),mismatches(99) ^(GCATGTCCCTCCCAGCTGCCCTACCTTCCAGAGCCCATATCAATGCCTGGGTCAGAGCTCTGGGGAGGAACTGCTCAGTTAGGA)CCCAGACGGAACCATGGAAGCCCCAGCGCAGCTTCTCTTCCTCCTGCTACTCTGGCTCCCAG___ATACCACTGcAGAAATAGTGATGACGCAGTCTCCAGCCACCCTGTCTGTGTCTCCAGGGGAAAGAGCCACCCTCTCCTGCAGGGCCAGTCAGAGTGTTAGCAGCAACTTAGCCTGGTACCAGCAGAAACCTGGCCAGGCTCCCAGGCTCCTCATCTATGGTGCATCCACCAGGGCCACTGGTATCCCAGCCAGGTTCAGTGGCAGTGGGTCTGGGACAGAGTTCACTCTCACCATCAGCAGCCTGCAGTCTGAAGATTTTGCAGTTTATTACTGTCAGCAGTATAATAACTGGCCTCC|GAGGAGCAGTTTTGGCCAGgGGAGG MEAPAQLLFLLLLWLPDTTaEIVMTQSPATLSVSPGERATLSCRASQSVSSNLAWYQQKPGQAPRLLIYGASTRATGIPARFSGSGSGTEFTLTISSLQSEDFAVYYCQQYNNWPp|rssfgqg 18BR009 ENSG00000135317.13 ENSG00000112378.12 -/- -/- chr6:85593579 chr6:138096494 CDS/splice-site CDS/splice-site duplication 4 6 0 85 2070 medium out-of-frame . . . . ENSG00000135317.13 ENSG00000112378.12 ENST00000346348.7 ENST00000421351.4 upstream downstream . ^(CCGCGGCCGCGCACGCGCGGCGGGGGGCGTGGGGCTGGGCCCAGCCGGACGCGACCTCAGCCTGCGGCGGCTAACTGCCGGTAGGCGTCTGTGTGCGCCGCCAAGTCGGTGGGGCGGGGACGCGAGGTGTGGATGGGGGGTCG)CCTTGACCTCTGCCTCAGCCAGTAGCGCAGTCTCGGCCTCGCCGTTACGGAGATGGTGCCCTGGGTGCGGACGATGGGGCAGAAGCTGAAGCAGCGGCTGCGACTGGACGTGGGACGCGAGATCTGCCGCCAGTACCCGCTGTTCTGCTTCCTGCTGCTCTGTCTCAGCGCCGCCTCCCTGCTTCTTAACAG|CGTGGGGTAGAGCAGCGGCTGCCATGCTCTTCTGTGGCTTCATCATCCTGGTGATCTGTTTCATCCTCTCCTTCTTCGCCCTCTGTGGACCCCAGATGCTTGTCTTCCTGAGAGTGATTGGAGGTCTCCTTGCCTTGGCTG___CTGTGTTCCAGATCATCTCCCTGGTAATTTACCCCGTGAAGTACACCCAGACCTTCACCCTTCATGCCAACCgTGCTGTCACTTACATCTATAACTGG(GCCTACGGCTTTGGGTGGGCAGCCACGATTATCCTGATTGGCTGTGCCTTCTTCTTCTGCTGCCTCCCCAACTACGAAGATGACCTTCTGGGCAATGCCAAGCCCAGGTACTTCTACACATCTGCCTAACTTGGGAATGAATGTGGGAGAAAATCGCTGCTGCTGAGATGGACTCCAGAAGAAGAAACTGTTTCTCCAGGCGACTTTGAACCCATTTTTTGGCAGTGTTCATATTATTAAACTAGTCAAAAATGCTAAAATAATTTGGGAGAAAATATTTTTTAAGTAGTGTTATAGTTTCATGTTTATCTTTTATTATGTTTTGTGAAGTTGTGTCTTTTCACTAATTACCTATACTATGCCAATATTTCCTTATATCTATCCATAACATTTATACTACATTTGTAAGAGAATATGCACGTGAAACTTAACACTTTATAAGGTAAAAATGAGGTTTCCAAGATTTAATAATCTGATCAAGTTCTTGTTATTTCCAAATAGAATGGACTCGGTCTGTTAAGGGCTAAGGAGAAGAGGAAGATAAGGTTAAAAGTTGTTAATGACCAAACATTCTAAAAGAAATGCAAAAAAAAAGTTTATTTTCAAGCCTTCGAACTATTTAAGGAAAGCAAAATCATTTCCTAAATGCATATCATTTGTGAGAATTTCTCATTAATATCCTGAATCATTCATTTTAGCTAAGGCTTCATGTTGACTCGATATGTCATCTAGGAAAGTACTATTTCATGGTCCAAACCTGTTGCCATAGTTGGTAAGGCTTTCCTTTAAGTGTGAAATATTTAGATGAAATTTTCTCTTTTAAAGTTCTTTATAGGGTTAGGGTGTGGGAAAATGCTATATTAATAAATCTGTAGTGTTTTGTGTTTATATGTTCAGAACCAGAGTAGACTGGATTGAAAGATGGACTGGGTCTAATTTATCATGACTGATAGATCTGGTTAAGTTGTGTAGTAAAGCATTAGGAGGGTCATTCTTGTCACAAAAGTGCCACTAAAACAGCCTCAGGAGAATAAATGACTTGCTTTTCTAAATCTCAGGTTTATCTGGGCTCTATCATATAGACAGGCTTCTGATAGTTTGCAACTGTAAGCAGAAACCTACATATAGTTAAAATCCTGGTCTTTCTTGGTAAACAGATTTTAAATGTCTGATATAAAACATGCCACAGGAGAATTCGGGGATTTGAGTTTCTCTGAATAGCATATATATGATGCATCGGATAGGTCATTATGATTTTTTACCATTTCGACTTACATAATGAAAACCAATTCATTTTAAATATCAGATTATTATTTTGTAAGTTGTGGAAAAAGCTAATTGTAGTTTTCATTATGAAGTTTTCCCAATAAACCAGGTATTCTAAACTTGTTTCCAGTTTGTAGTTTTTCCATTTTTCAAATCTGGGGAAAGGAATTAAAAAAAAAATGGGTAATAAGAACATGGGATATAATGAAAAGTGGTTTTTGTTTGTTTTTTTGTTTGAAGTTTTAAGGGCCTTGCTCATTTTAGGTGTCCAAAACCAATTTTTGAGTGGAGATTAATGAATTCTAATAGTCTATTCCCTGAACTTTTCCTCAATGAACAATACCCTAGACACACATTAAACAATTTCTCTGCAGTGCTATCAACCAGAGGAAAATGGACTAAGAGATTTCTGGCAGGTTCAGACACCCGGGGGACATGTGTGCAGTGTAGCTGAAGCCTCCTCCTTGTGCTGGGGTCCCCTTCCATTCAGGTGGTGGGGTAGCAGTCTCTCTATTTTCCCCTTGCCCTCCTTCCCATTTTATCATTTGTTATTTTTTTTCCCACCATAAGTCATATGTTACTTCCACTATGGTGTATGTCATTGTGAGGATGGGTGCAGAGAGGCTGGGTGGGAGAACGGAAATATATCTCCCTAGGGCTACTGTTGGCCAGCTAGTCCTTGGCAGTGAATTTTTCTATGCTTTTCAAAATGCGAGGTGAATGTTTCTCATAGAGAAATGTAATCTGGGTGATTATACCAAAATTGAAAAGAAAAACCCACACAACTATGCCGTGGCTGGTGGAGAATTTGAAGTGGTCATTAAAAATGTTAAAAATCCCATCTTTTAAAGTGATACCACAGCTCATTCAAGAAGATACTGGATATCTAGAGATTAAGAAACGTGGTCTCCTGTTAAACATGAAAATGACTCCGTTTATAAGCTTCTCTACCACATGCACTTGTCTTTGCATGATTTCCCATCCAGCCTTCTTCCCCTCCTCAATCACACAATACCTTAACGGCGCACATTTAGGAAAAATGCAACCTCCTGGGACCAACGAGCCTGATATAATAGAACCATGTCAACCTAAAGTATTTATGACAAAGATAAACTCTTATTTTGCAGAAATGGTCTGCTTCCTTCAGCCTTGTTCTAGTATAGAGATCTGCCATTCCTTGTTGATCCAGATTCACCAAGACAGATACCTTTATGTCATAACAGAAGGGAAGTTCCAGAGGATTCTGGAGAGTAATGAAGAATTGGGCTGAGAAACCACCTGAAGGCTAACAGTGCATTGCATGAGATTTCCCACAGTAAAGCTGAGGTGCTTTTTGGTTCAGTAATTAAATATTGAGTTCCCACCCTTTAAATAAGCAGTTCTAGGTTCCTAAGCAATTATTTCACTCTGTAAGTAGCCAGACATGCTAAGTGGCACTTACTGCTGATTGTAACAAAGAAGTAATATATCAAGGTCTTTCCATGTTCACACAAGGTAGCTTGTGTGTAATAACTTAGCTTCAAAACCATAGACTGCAGAACTCACAAGTTCAACAGCCTTTCCTTTTTTAAGGAAATGAAAACAATGGAAAATATAGTCATCATAACTTAATTCGGTTTATTTTTTTTTTCTGTAAACTCCCCCTGAAAGACATTCCTATTAATACAGTAAATGTGAACACTGACTTGTTTTTATAAGCACATCTGAAAGGGCATATTTGAGTCTCATCCCAACTTTGGTCCTTGCTATCTGTGCAGGCTTGGGCAGGTCATCTCCCTGCTGGTCTCAATATCCTCACCTGTAAAATGATTGTAAATGATCCCCCTACCTTCAAGATTCTCTGATTGATAGAATTTTTTCTTTAATTAAAAAATTTTAAATATTCCTTGAGTTGGAAGCACTGATCAATAAGTGGATTGCTTAGGGAGGTTGGAACGAATAGATTCAGTCCCAACTTCCTCTTTTAAATTCCCTCTTCCTCACTCTTCCTGCAACACTTATTTTTACAGTTGAGTTTTAAAAATAAGTAATATATAAAATAATTTCTGTAGTGTGGTTTCAGATTTAAAAATTCCTGCAGACAGGCTGGGCTTGCAACCCCATCAGTCGATGGTCAGAGCCCTTTGCTTTTTGAGACCATTTTTAGGTGAGCTTGGCTTGCCTGGATACAGTGTGCAGTGCATTCTTCCTGAATTTTGCAATTCTGGTATCTGGGTGTATTTTCTAGGTGTGTCAGGGTGAGTGTAATCCACCTAGGGTGTGGAAAAAGCCAAGAAAGGGAAATTAAAAGAGGTTCCTATCCAGTCATGTTAATGATCTTCCACTTGTACTATCCTGTGCTTCGTTGTTAACCTCGAAAACATACTTTGTTGGCTGCAAAAATAAACAAAGGGAAACTCA)$ MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNs|vg* 18BR009 ENSG00000274265.5 ENSG00000234232.7 +/+ -/+ chr1:149176250 chr1:149698630 exon/splice-site intron deletion/5'-5' 0 3 0 40 13 medium . . . . . ENSG00000274265.5 ENSG00000234232.7 ENST00000611769.4 . downstream upstream . ^(GGATCACTTCCGAAACCACTTGGCCTTCAGCCCCTGCCTCGGCCAGAGGTTTCATTTTTAACTGAATATTTACCAAAGCTGAAAGCGTGCGAGGGGGGTGGGGTGGAAATAGCGGCTGCTTCTTTTCCAAGGATTTATTTAATGGGGATGTGTTCAAGGCAAGACCGAATTCAG)AAGGATATCGACGTCGTGATCCAGAAGTCCAGAGCTGAGGACTGCCTGTTTGCAG|GACAACTGTGCAGACTACAAAGCTTCGGAAAACCGGAGAGGCTGAGTCGACTAATCGTGTTGTTGCACGTTAGAAACGCTTGCATTGCCTGACTCTGAAACCAGAAGGGCGGCCGAATGGCCTTCACCCTCCATTAACCCTCGCCTCCTTCAGAAGCCAGTGCCTCTGGAAATGCCTGGATCTGCGACCCCAGCCTGAGC . 18BR009 ENSG00000183856.11 ENSG00000143303.12 -/- +/- chr1:156531160 chr1:156733490 CDS/splice-site CDS duplication/5'-5' 0 3 0 28 37 medium out-of-frame . Calponin_homology_(CH)_domain(100%),GTPase-activator_protein_for_Ras-like_GTPase(100%),IQ_calmodulin-binding_motif(100%)| . . ENSG00000183856.11 ENSG00000143303.12 ENST00000361170.7 . upstream downstream . ^(AACGGCGGGAGATTCAAACCTGGAAGAAGGAGGAACATGGAGAGGAGAGCAGCGGGCCCAGGCTGGGCAGCCT___ATGAACGCCTCACAGCTGAGGAGATGGATGAGCAGAGGCGGCAGAATGTTGCCTATCAGTACCTGTGCCGGCTGGAGGAGGCCAAGCG___CTGGATGGAGGCCTGCCTGAAGGAGGAGCTTCCTTCCCCGGTGGAGCTGGAGGAGAGCCTTCGGAATGGAGTGCTGCTGGCCAAGCTAGGCCACTGTTTTGCACCCTCCGTGGTTCCCTTGAAGAAGATCTACGATGTGGAGCAGCTGCGGTACCAG___GCAACTGGCTTACATTTCCGTCACACAGACAACATCAACTTTTGGCTATCTGCAATAGCCCACATCGGTCTGCCTTCG___ACCTTCTTCCCAGAGACCACGGACATCTATGACAAAAAGAACATGCCCCGGGTAGTCTACTGCATCCATGCTCTCAG___TCTCTTCCTCTTCCGGCTGGGATTGGCCCCTCAGATACATGATCTATACGGGAAAGTGAAATTCACAG___CTGAGGAACTCAGCAACATGGCGTCCGAACTGGCCAAATATGGCCTCCAGCTGCCTGCCTTCAGCAAGATCGGGGGCATCTTGGCCAATGAGCTCTCGGTGGATGAGGCTGCAG___TCCATGCAGCTGTTCTTGCCATCAATGAAGCAGTGGAGCGAGGGGTGGTGGAGGACACCCTGGCTGCCTTGCAGAATCCCAGTGCTCTTCTGGAGAATCTCCGAGAGCCTCTGGCAGCCGTCTACCAAGAGATGCTGGCCCAGGCCAAGATGGAGAAGGCAGCCAATGCCAGGAACCAT___GATGACAGAGAAAGCCAGGACATCTATGACCACTACCTAACTCAGGCTGAAATCCAGGGCAATATCAACCATGTCAACG___TCCATGGGGCTCTAGAAGTTGTTGATGATGCCCTGGAAAGACAGAGCCCTGAAGCCTTGCTCAAGGCCCTTCAAGACCCTGCCCTGGCCCTGCGAGGGGTGAGGAGAGACTTTGCTGACTGGTACCTGGAGCAGCTGAACTCAGACAGAGAGCAGAAGGCACAG___GAGCTGGGCCTGGTGGAGCTTCTGGAAAAGGAGGAAGTCCAGGCTGGTGTGGCTGCAGCCAACACAAAGGGTGATCAGGAACAAGCCA___TGCTCCACGCTGTGCAGCGGATCAACAAAGCCATCCGGAGGAGAGTGGCGGCTGACACTGTGAAGGAGCTGATGTGCCCTGAGGCCCAGCTGCCTCCAGTGTACCCTGTTGCATCGTCTATGTACCAGCTGGAGCTGGCAGTGCTCCAGCAGCAGCAGGGG___GAGCTTGGCCAGGAGGAGCTCTTCGTGGCTGTGGAGATGCTCTCAGCTGTGGTCCTGATTAACCGGGCCCTGGAGGCCCGGGATGCCAGTGGCTTCTGGAGCAGCCTGGTGAACCCTGCCACAGGCCTGGCTGAGGTGGAAGGAGAAAATGCCCAGCG___TTACTTCGATGCCCTGCTGAAATTGCGACAGGAGCGTGGGATGGGTGAGGACTTCCTGAGCTGGAATGACCTGCAGGCCACCGTGAGCCAGGTCAATGCACAGACCCAGGAAGAGACTGACC___GGGTCCTTGCAGTCAGCCTCATCAATGAGGCTCTGGACAAAGGCAGCCCTGAGAAGACTCTGTCTGCCCTACTGCTTCCTGCAGCTGGCCTAGATGATGTCAGCCTCCCTGTCGCCCCTCGGTACCATCTCCTCCTTGTGGCAGCCAAAAGGCAGAAGGCCCAG___GTGACAGGGGATCCTGGAGCTGTGCTGTGGCTTGAGGAGATCCGCCAGGGAGTGGTCAGAGCCAACCAGGACACTAATACAGCTCAGAGAA___TGGCTCTTGGTGTGGCTGCCATCAATCAAGCCATCAAGGAGGGCAAGGCAGCCCAGACTGAGCGGGTGTTGAGGAACCCCGCAGTGGCCCTTCGAGGGGTAGTTCCCGACTGTGCCAACGGCTACCAGCGAGCCCTGGAAAGTGCCATGGCAAAGAAACAGCGTCCAG___CAGACACAGCTTTCTGGGTTCAACATGACATGAAGGATGGCACTGCCTACTACTTCCATCTGCAGACCTTCCAGGGGATCTGGGAGCAACCTCCTGGCTGCCCCCTCAACACCTCTCACCTGACCCGGGAGGAGATCCAG___TCAGCTGTCACCAAGGTCACTGCTGCCTATGACCGCCAACAGCTCTGGAAAGCCAACGTCGGCTTTGTTATCCAGCTCCAGGCCCGCCTCCGTGGCTTCCTAGTTCGGCAGAAGTTTGCTGAGCATTCCCACTTTCTGAGGACCTGGCTCCCAGCAGTCATCAAGATCCAG___GCTCATTGGCGGGGTTATAGGCAGCGGAAGATTTACCTGGAGTGGTTGCAGTATTTTAAAGCAAACCTGGATGCCATAATCAAG___ATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAAT___GTTAACTCCATTGTGAAGATCCAGGCATTTTTCCGAGCCAGGAAAGCCCAAGATGACTACAGGATATTAG___TGCATGCACCCCACCCTCCTCTCAGTGTGGTACGCAGATTTGCCCATCTCTTGAATCAAAGCCAGCAAGACTTCTTGGCTGAGGCAGAGCTGCTGAAGCTCCAGGAAGAGGTAGTTAGGAAGATCCGATCCAATCAGCAGCTGGAGCAGGACCTCAACATCATGGACATCAAGATTGGCCTGCTGGTGAAGAACCGGATCACTCTGCAG___GAAGTGGTCTCCCACTGCAAGAAGCTGACCAAGAGGAATAAGGAACAGCTGTCAGATATGATGGTTCTGGACAAGCAGAAGGGTTTAAAGTCGCTGAGCAAAGAGAAACGGCAGAAACTAGAAGCATACCAACACCTCTTCTACCTGCTCCAG___ACTCAGCCCATCTACCTGGCCAAGCTGATCTTTCAGATGCCACAGAACAAAACCACCAAGTTCATGGAGGCAGTGATTTTCAGCCTGTACAACTATGCCTCCAGCCGCCGAGAGGCCTATCTCCTGCTCCAGCTGTTCAAGACAGCACTCCAGGAGGAAATCAA___GTCAAAGGTGGAGCAGCCCCAGGACGTGGTGACAGGCAACCCAACAGTGGTGAGGCTGGTGGTGAGATTCTACCGTAATGGGCGGGGACAGAGTGCCCTGCAGGAGATTCTGGGCAAGGTTATCCAGGATGTGCTAGAAGACAAAGTGCTCAGCGTCCACACAGACCCTGTCCACCTCTATAAGAACTGGATCAACCAGACTGAGGCCCAGACAGGGCAGCGCAG___CCATCTCCCATATGATGTCACCCCGGAGCAGGCCTTGAGCCACCCCGAGGTCCAGAGACGACTGGACATCGCCCTACGCAACCTCCTCGCCATGACTGATAAGTTCCTTTTAGCCATCACCTCATCTGTGGACCAAATTCC___GTATGGGATGCGATATGTGGCCAAAGTCCTGAAGGCAACTCTGGCAGAGAAATTCCCTGACGCCACAGACAGCGAGGTCTATAAG___GTGGTCGGGAACCTCCTGTACTACCGCTTCCTGAACCCAGCTGTGGTGGCTCCTGACGCCTTCGACATTGTGGCCATGGCAGCTGGTGGAGCCCTGGCTGCCCCCCAGCGCCATGCCCTGGGGGCTGTGGCTCAGCTCCTACAGCACGCTGCGGCTGGCAAGGCCTTCTCTGGGCAGAGCCAGCACCTACGGGTCCTGAATGACTATCTGGAGGAAACACACCTCAAGTTCAG___GAAGTTCATCCATAGAGCCTGCCAGGTGCCAGAGCCAGAGGAGCGTTTTGCAGTGGACGAGTACTCAGACATGGTGGCTGTGGCCAAACCCATGGTGTACATCACCGTGGGGGAGCTGGTCAACACGCACAGG___CTGTTGCTGGAGCACCAGGACTGCATTGCCCCTGATCACCAAGACCCCCTGCATGAGCTCCTGGAGGATCTTGGGGAGCTGCCCACCATCCCTGACCTTATTG___GTGAGAGCATCGCTGCAGATGGGCACACGGACCTGAGCAAGCTAGAAGTGTCCCTGACGCTGACCAACAAGTTTGAAGGACTAGAGGCAGATGCTGATGACTCCAACACCCGTAGCCTGCTTCTGAG___CACCAAGCAGCTGTTGGCCGATAT)CATACAGTTCCATCCTGGGGACACCCTCAAGGAGATCCTGTCCCTCTCGGCTTCCAGAGAGCAA|AGCCTGCAGAAGCTCCTGGTCCAGGCGCTGGGCTCTCTCCACCAGTCTCTGATCCCCTTCGATGCTCTTCACCATCAACCCCAGGCCAAGAGCCATGAAGCGGGAGAGATGGCCCTGGAGTCACGAGGAGGATGGAAACAGCCCTGTTCAGTGCCCTATCCACTATCACCCTCC MERRAAGPGWAAYERLTAEEMDEQRRQNVAYQYLCRLEEAKRWMEACLKEELPSPVELEESLRNGVLLAKLGHCFAPSVVPLKKIYDVEQLRYQATGLHFRHTDNINFWLSAIAHIGLPSTFFPETTDIYDKKNMPRVVYCIHALSLFLFRLGLAPQIHDLYGKVKFTAEELSNMASELAKYGLQLPAFSKIGGILANELSVDEAAVHAAVLAINEAVERGVVEDTLAALQNPSALLENLREPLAAVYQEMLAQAKMEKAANARNHDDRESQDIYDHYLTQAEIQGNINHVNVHGALEVVDDALERQSPEALLKALQDPALALRGVRRDFADWYLEQLNSDREQKAQELGLVELLEKEEVQAGVAAANTKGDQEQAMLHAVQRINKAIRRRVAADTVKELMCPEAQLPPVYPVASSMYQLELAVLQQQQGELGQEELFVAVEMLSAVVLINRALEARDASGFWSSLVNPATGLAEVEGENAQRYFDALLKLRQERGMGEDFLSWNDLQATVSQVNAQTQEETDRVLAVSLINEALDKGSPEKTLSALLLPAAGLDDVSLPVAPRYHLLLVAAKRQKAQVTGDPGAVLWLEEIRQGVVRANQDTNTAQRMALGVAAINQAIKEGKAAQTERVLRNPAVALRGVVPDCANGYQRALESAMAKKQRPADTAFWVQHDMKDGTAYYFHLQTFQGIWEQPPGCPLNTSHLTREEIQSAVTKVTAAYDRQQLWKANVGFVIQLQARLRGFLVRQKFAEHSHFLRTWLPAVIKIQAHWRGYRQRKIYLEWLQYFKANLDAIIKIQAWARMWAARRQYLRRLHYFQKNVNSIVKIQAFFRARKAQDDYRILVHAPHPPLSVVRRFAHLLNQSQQDFLAEAELLKLQEEVVRKIRSNQQLEQDLNIMDIKIGLLVKNRITLQEVVSHCKKLTKRNKEQLSDMMVLDKQKGLKSLSKEKRQKLEAYQHLFYLLQTQPIYLAKLIFQMPQNKTTKFMEAVIFSLYNYASSRREAYLLLQLFKTALQEEIKSKVEQPQDVVTGNPTVVRLVVRFYRNGRGQSALQEILGKVIQDVLEDKVLSVHTDPVHLYKNWINQTEAQTGQRSHLPYDVTPEQALSHPEVQRRLDIALRNLLAMTDKFLLAITSSVDQIPYGMRYVAKVLKATLAEKFPDATDSEVYKVVGNLLYYRFLNPAVVAPDAFDIVAMAAGGALAAPQRHALGAVAQLLQHAAAGKAFSGQSQHLRVLNDYLEETHLKFRKFIHRACQVPEPEERFAVDEYSDMVAVAKPMVYITVGELVNTHRLLLEHQDCIAPDHQDPLHELLEDLGELPTIPDLIGESIAADGHTDLSKLEVSLTLTNKFEGLEADADDSNTRSLLLSTKQLLADIIQFHPGDTLKEILSLSASREQ|slqkllvqalgslhqslipfdalhhqpqaksheagemalesrggwkqpcsvpyplsp 18BR009 ENSG00000173065.13 ENSG00000276293.4 -/- -/- chr17:28812209 chr17:38786920 5'UTR/splice-site CDS/splice-site duplication 0 3 0 14 65 medium . . |Phosphatidylinositol-4-phosphate_5-Kinase(100%) . . ENSG00000173065.13 ENSG00000276293.4 ENST00000452648.7 ENST00000619039.4 upstream downstream . ^(AGCCGGCTGGGGGAGGGGGTGTCGGCGCACCGCGGAGTCCTGCGCTCCGTGAGCCTGGCACCCGGAGCAGCCGCCTCCCCCTCCCCCT)GCCTAGACCGCTAGAAGCCCCCTCTCTTCCATCCTCCCGGGGCGGGGGTGAGCTGGGCTCAGCTGCCCAAGGCGGGCGGGGCGGAGCCAGGAGCCCCACGGAGCGCTGCGGAGCGAACCTCACCTTTCCAGGGCGCAAG|ATCAATGAGCTGAGCAATGTTCCTGTTCCTGTCATGCTAATGCCAGATGACTTCAAAGCCTACAGCAAGATCAAGGTGGACAATCATCTCTTCAATAA___AATTCAGTGACGCGCAGCGCCCCCATCAACA(GTGACAGCCAGGGTCGGTGTGGCACGCGTTTCCTCACCACCTACGACCGGCGCTTTGTCATCAAGACTGTGTCCAGCGAGGACGTGGCGGAGATGCACAACATCTTAAAGAAATACCACCAG___TTTATAGTGGAGTGTCATGGCAACACGCTTTTGCCACAGTTCCTGGGCATGTACCGCCTGACCGTGGATGGTGTGGAAACCTACATGGTGGTTACCAGGAACGTGTTCAGCCATCGGCTCACTGTGCATCGCAAGTATGACCTCAAG___GGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAG___GCCAAGGACTTGCCAACATTCAAAGACAATGACTTCCTCAATGAAGGGCAGAAGCTGCATGTGGGAGAGGAGAGTAAAAAGAACTTCCTGGAGAAACTGAAGCGGGACGTTGAG___TTCTTGGCACAGCTGAAGATCATGGACTACAGCCTGCTGGTGGGCATCCACGACGTGGACCGGGCAGAGCAGGAGGAGATGGAGGTGGAGGAGCGGGCAGAGGACGAGGAGTGTGAGAATGATGGGGTGGGTGGCAACCTACTCTGCTCCTATGGCACACCTCCGGACAGCCCTGGCAACCTCCTCAGCTTTCCTCGGTTCTTTGGTCCTGGGGAATTCGACCCCTCTGTTGACGTCTATGCCATGAAAAGCCATGAAA___GTTCCCCCAAGAAGGAGGTGTATTTCATGGCCATCATTGATATCCTCACGCCATACGATACAAAGAAGAAAGCTGCACATGCTGCCAAAACGGTGAAACACGGG___GCAGGGGCCGAGATCTCGACTGTGAACCCTGAGCAGTACTCCAAACGCTTCAACGAGTTTATGTCCAACATCCTGACGTAGTTCTCTTCTACCTTCAGCCAGAGCCAGAGAGCTGGATATGGGGTCGGGGATCGGGAGTTAGGGAGAAGGGTGTATTTGGGCTAGATGGGAGGGTGGGAGCAGAGTCGGGTTTGGGAGGGCTTTAGCAATGAGACTGCAGCCTGTGACACCGAAAGAGACTTTAGCTGAAGAGGAGGGGGATGTGCTGTGTGTGCACCTGCTCACAGGATGTAACCCCACCTTCTGCTTACCCTTGATTTTTTCTCCCCATTTGACACCCAGGTTAAAAAGGGGTTCCCTTTTTGGTACCTTGTAACCTTTTAAGATACCTTGGGGCTAGAGATGACTTCGTGGGTTTATTTGGGTTTTGTTTCTGAAATTTCATTGCTCCAGGTTTGCTATTTATAATCATATTTCATCAGCCTACCCACCCTCCCCATCTTTGCTGAGCTCTCAGTTCCCTTCAATTAAAGAGATACCCGGTAGACCCAGCACAAGGGTCCTTCCAGAACCAAGTGCTATGGATGCCAGATTGGAGAGGTCAGACACCTCGCCCTGCTGCATTTGCTCTTGTCTGGATTAACTTTGTAATTTATGGAGTATTGTGCACAACTTCCTCCACCTTTCCCTTGGATTCAAGTGAAAACTGTTGCATTATTCCTCCATCCTGTCTGGAATACACCAGGTCAACACCAGAGATCTCAGATCAGAATCAGAGATCTCAGAGGGGAATAAGTTCATCCTCATGGGATGGTGAGGGGCAGGAAAGCGGCTGGGCTCTTGGACACCTGGTTCTCAGAGAACCCTGTGATGATCACCCAAGCCCCAGGCTGTCTTAGCCCCTGGAGTTCAGAAGTCCTCTCTGTAAAGCCTGCCTCCCACTAGGTCAAGAGGAACTAGAGTACCTTTGGATTTATCAGGACCCTCATGTTTAAATGGTTATTTCCCTTTGGGAAAACTTCAGAAACTGATGTATCAAATGAGGCCCTGTGCCCTCGATCTATTTCCTTCTTCCTTCTGACCTCCTCCCAGGCACTCTTACTTCTAGCCGAACTCTTAGCTCTGGGCAGATCTCCAAGCGCCTGGAGTGCTTTTTAGCAGAGACACCTCGTTAAGCTCCGGGATGACCTTGTAGGAGATCTGTCTCCCTGTGCCTGGAGAGTTACAGCCAGCAAGGTGCCCCCATCTTAGAGTGTGGTGTCCAAACGTGAGGTGGCTTCCTAGTTACATGAGGATGTGATCCAGGAAATCCAGTTTGGAGGCTTGATGTGGGTTTTGACCTGGCCTCAGCCTTGGGGCTGTTTTTCCTTGTTGCCCCGCTCTAGACTTTTAGCAGATCTGCAGCCCACAGGCTTTTTTGGAAGGAGTGGCTTCCTGCAGGTGTTCCACCTGCCTTCGGAGCCTGCCACCCAGGCCCTCAGAACTGAGCCACAGGCTGCTCTGGCCAGGAGAGAAACAGCTCTGTTGTTCTGCATTGGGGGAGGTACATTCCTGCATCTTCTCACCCCCTCAACCAGGAACTGGGGATTTGGGATGAGATATGGTCAGACTTGTAGATAACCCCAAAGATGTGAAGATCGCTTGTGAAACCATTTTGAATGAATAGATTGGTTTCCTGTGGCTCCCTCCAAACCTGGCCAAGCCCAGCTTCCGAAGCAGGAACCAGCACTGTCTCTGTGCCTGACTCACAGCATATAGGTCAGGAAAGAATGGAGACGGCATTCTTGGACTTCACTGGGGCTGCTGGATTGGATGGGAAACCTTCTGGAAGAGGCAGATGGGGGTCAAACCACTGCCTTGGCCCCAGGAAGGGGCCATAGGTAGGTCTGAACAACTGCCGCAAGACCACTACATGACTTAGGGAACTTGAAACCAACTGGCTCATGGAGAAAACAAATTTGACTTGGGAAAGGGATTATGTAGGAATAATGTTTGGACTTGATTTCCCCACGTCATAATGAAGAATGGAAGTTTGGATCTGCTCCTCGTCAGGCGCAGCATCTCTGAAGCTTGGAAAGCTGTCTTCCAGCAGCCTCCGTGGCCTCGGGTTCCTACCGGCTTCTCTGCATTTGGTCTGCTGATCATGTTGCCATAATGTGTATGGAAAGTGTAACACATTCTTACTGGTTAAAGACGACTACCAGGTATCTAACTTGTTTAACATTGAGTTTGTGTGTGTGTGTGTATGTTTGTGTGTTTTGTATATTGTTTACATTTTGAGAGGTAGCATTCTGTTTCAAATGCTTTTTGTTTTTCTGACAGTATTGTTGACTGGGTCATAACATTTTGAGCTGTGGTTTGGTGGATTTTCAATTTTTTTTTTTAAAGGTCATTCGCTGTGCTATCTTCAAAACCTTGAGTTTGGCCCCCAATTTTTGGCATTCAAATGTTTAAAAGCTATTTATCTTGGTTTATACAAGTTTCCTTTCTCTTCTTTTTGTCATGGTATTCTATTTGGTCTGCAGTTTGAATGTAGAGAAAGTGGACTGATCCCCCAAGCGTTGTCTGCCCCCACTCTTTCCTCCTTGGGTCCCGCCATTCTTTTACTGGGCAGTCGAGGGCATTGGAGGGGAAGTGACTGCCCTCAGCCTCACTCCCTGGGGCCATGAAGAAAAGCTAAACAGTCTCATGGCATCTCAGAATAATGTTGGGTCTCCCAAGAAGAAAGGTGTAAGAATAACGACATGGCTGATTAGGCGAGGCCAGGATAGGGCTAAGGCCAGGATTCCTGGCTGGCATCCAGTCACCCCTTCTCCCATCCTTCCCCCTCTTCTTCCACAAGTCCGCAGCCGAGACACTGTAGTCTCCCAGCCACAGTGATGAGTGCCCTGGAGACTCCACTGACCTCTAGATGAAGGCCCCTGGCCCTGGTTCCTGTTAATTAACCTCTGGGTCTTTGAGTCCCCCAGCACAAACTTCTTTCCTGTACCCTGCGGCTTGGGGTCACAGGGCATGCCGGGAAGCCACAGCTGAGGGGCGCAGACTGAAGCAGTGCTCCACCTCTCCTTCTTTAGCTCAGGGGTTGCTGGTCTGTGGCAGGCGCCACGAGTGGCCCCTGTGGCTGTTCTCAGTGGCAGTCTCTTAAGTTCCCACCACAGGCAGCTCTTTATCCCCTCTCCCTACTTGACTCTTTCTCTTGCCTGTGCTTTTGGCCTCAAACAGGCCTGCTGGTAGCGCTCAGGGCGTGAGGCTACACTCCTGCCCTGCCTTTCCTGTCTTCATGGTCTGCCAGGGCATACCTTGGGGAGGTGGACCAAAGACCCAGGACTTTTTGCAGTAGCCAGTCCTACCCCCCAGTTGTCTTTTTACCAATTCAGGGTGGGAGAGAAAACTGCAGCACCCCAGCATGTGAGTTACTCAGGTGTTGGGGGCTAGAAGGGACAGTGCGTTTAAACAACACTCAGAGCTCTGGCCTTAAACCTGTGGCCCCCCAAGTCTAGGAGCCTCATCTCTTCCTGGCAGTCATGCGGGCAGGAGGTCCTGAAAGGGAAAACCCATTCAGACAACTGTTCCCCAATCTACCAGCCATCTGCAGGGGTCAGTGACCGTGGCCCTCTCCCTCCTCTAGAATGTGCCACTTATGAAGAGTGCCCCATGGGGAAAAGGAGACTCAGCTGTCCCTTGGCAGCTTGTGCCAGTATCCCAGGGCAGAAGTTTCCACAGGAGCCTCTTGCCCTTGCGCAGAGCCACTGTGAGAGGCGGTGGGAGCCAACACCCTTGGGGGAGGGGGCAGTACTGCTCGGCACATCCCAGCATCAGGTCAGATCATTGAAATTAAAAAATGTGAATTAAGTTCATATCCACCTTTTGGGGAAGCAGGACAAACCACCACCCCACCAAGTGTGTGACTTCTCCATATCCCACTGCAGTTTCCATTTTTTAAATGGGAATTTTCAATCCCCTGTGCTTGTCTAACGTCTGCTTTAAAAAGTTTGAGACCCTGTTACTGTTTGAAAATGCATGCATGTTACGATGAATCTCCAACCTGAGGAAAAAAATAAAACTCAAAAAGCTTTGTGTACA)$ . 18BR009 ENSG00000141279.16 ENSG00000153822.13 +/+ +/+ chr17:47545993 chr17:70130879 CDS/splice-site 5'UTR/splice-site deletion 3 0 0 121 9 medium out-of-frame . Peptidase_family_M1_domain(100%)|Inward_rectifier_potassium_channel(100%) . . ENSG00000141279.16 ENSG00000153822.13 ENST00000530173.5 ENST00000283936.5 downstream upstream duplicates(1) ^(AAGTTACGGAAGAGTCAAGGCTGGGACCTCATGGCATCATTTTCCATGGATTGCTCTCCAAGTTTTTGTGTTCCTGGCCTTTGGAACCCCTTCATCATATTCCGCAG___CCGCTCCTCTCGCCGCCGCCTCCACAGCCTGGGCCTCGCCGCGATG)CCGGAGAAGAGGCCCTTCGAGCGGCTGCCTGCCGATGTCTCCCCCATCAACTACAGCCTTTGCCTCAAGCCCGACTTGCTGGACTTCACCTTCGAGGGCAAGCTGGAGGCCGCCGCCCAG___GTGAGGCAGGCGACTAATCAGATTGTGATGAATTGTGCTGATATTGATATTATTACAGCTTCATATGCACCAGAAGGAGATGAAG|GAGTAACTCAAGATGATTTTGATGTTGCAGTTTTAAATTTCACTTTGACTTGAGCTGGGAAATCCTTT(GGCCTATTATACCATGGATGCTAAAAATG___GTTCTAACTGAAAACCCAAACCAAGAAATAGCAACAAGTCTAGAATTCTTACTACTACAAAACTCACCTGGATCCCTAAGGGCACAGCAAAGAATGAGCTATTACGGCAGCAGCTATCATATTATCAATGCGGACGCAAAATACCCAGGCTACCCGCCAGAGCACATTATAGCTGAGAAGAGAAGAGCAAGAAGACGATTACTTCACAAAGATGGCAGCTGTAATGTCTACTTCAAGCACATTTTTGGAGAATGGGGAAGCTATGTGGTTGACATCTTCACCACTCTTGTGGACACCAAGTGGCGCCATATGTTTGTGATATTTTCTTTATCTTATATTCTCTCGTGGTTGATATTTGGCTCTGTCTTTTGGCTCATAGCCTTTCATCATGGCGATCTATTAAATGATCCAGACATCACACCTTGTGTTGACAACGTCCATTCTTTCACAGGGGCCTTTTTGTTCTCCCTAGAGACCCAAACCACCATAGGATATGGTTATCGCTGTGTTACTGAAGAATGTTCTGTGGCCGTGCTCATGGTGATCCTCCAGTCCATCTTAAGTTGCATCATAAATACCTTTATCATTGGAGCTGCCTTGGCCAAAATGGCAACTGCTCGAAAGAGAGCCCAAACCATTCGTTTCAGCTACTTTGCACTTATAGGTATGAGAGATGGGAAGCTTTGCCTCATGTGGCGCATTGGTGATTTTCGGCCAAACCACGTGGTAGAAGGAACAGTTAGAGCCCAACTTCTCCGCTATACAGAAGACAGTGAAGGGAGGATGACGATGGCATTTAAAGACCTCAAATTAGTCAACGACCAAATCATCCTGGTCACCCCGGTAACTATTGTCCATGAAATTGACCATGAGAGCCCTCTGTATGCCCTTGACCGCAAAGCAGTAGCCAAAGATAACTTTGAGATTTTGGTGACATTTATCTATACTGGTGATTCCACTGGAACATCTCACCAATCTAGAAGCTCCTATGTTCCCCGAGAAATTCTCTGGGGCCATAGGTTTAATGATGTCTTGGAAGTTAAGAGGAAGTATTACAAAGTGAACTGCTTACAGTTTGAAGGAAGTGTGGAAGTATATGCCCCCTTTTGCAGTGCCAAGCAATTGGACTGGAAAGACCAGCAGCTCCACATAGAAAAAGCACCACCAGTTCGAGAATCCTGCACGTCGGACACCAAGGCGAGACGAAGGTCATTTAGTGCAGTTGCCATTGTCAGCAGCTGTGAAAACCCTGAGGAGACCACCACTTCCGCCACACATGAATATAGGGAAACACCTTATCAGAAAGCTCTCCTGACTTTAAACAGAATCTCTGTAGAATCCCAAATGTAGTCCTAAATTGCAATTATGAGGGCTACCACTGAATCATTTTATCTTTCAGCCAATCAAGTCGTTGTAAACGTGGCTTTTTTGAAAGTGTTATGGCTATGTTTTATGATGATGCTGGGTAAGTAGAGTAAGTTAAACTTGGTAAAAGATAATCTAAAAATTCCATAGTTCTCAGTTATTAAAATTTTTCTTGTTCGCCAATTTTGTATTAAGAATGCTATTAAGCCTAATTGATTAAAATTTATCTTTTTTATTATCTTACATGCTTGTATCTTCAGTTGGAGGTGTAGTATTCAAAAACGGGGAATGAAGGCAGGAAGGAGGCTGGAATAAATAAAAATAAAAATAGACAAGTAAGACAGCATAAATAATACATTTTTAAACATGTCAACATTGATAATACAATGAAGATTTACCATAAAAAGTATCATATCTAACCAAGATATGCAAAAGATGCATTCAGTAAGCTGTAACGTTGAGAAATGTAACTGTGAAATCAGCTCACCAGTTCAAGTCACTAGGTTTGCCACTTGGACCGTCTTGGTTTCAGCGAGCATAGCGAGTGGCTGTAAGAAATTGTCCATGCCACCAATTCCACTGCTACTTGCCCAGGTAGTGATCAGTGAGAGTTAGAAGCAATTTTTTCTCTAACCGATGAGGCAGAAGAAAAGTTAACAGTATTTAAAGCAGCATTTCTCTCTTAACGTTCCTGGGAGACTCCAACAAATGGAGACCAGAAACAAGGCAACCACGACCTTGCTAGGTTCTCTGAGGAGGGGACTTTCTATGTTCACGTCCCACCTTCTTCGAGGACATGACCAAGGGACAGGATCATACAGATGAGGTGAGGGGATGGTTAGCAGCGATAAACATTCTCAGACCCTTGGAGAGAAACCGTTGCTAGCTTGCTGGTCCCGAAAGATTGCAACTTTGGCTGCTACAGAAAGGATAGAACCTTTTTGGGGGGAGGGTGGGGAGGGAGATATTTATTTGTGCCCAGAAGCAGTTATGTATGCTTCTTGTCTTGGTTACTGTACAAGATACAAATGACTCGAGTTGTGGATTGCAAGAAACTCTTTTATTAAACTTGGAACAACCATTTAAATGAAGGATTTTGTGAGATAGAATTCAATTAAAGCGATTTGAATGCACAGTAAGTGGATAATCTGAGTACAATGAAATTTCTTAAGTTTTAGAACATGAGATAAAGTTGTATACTCTACTTTCATGTTAAAATGTTAATCATGATTACTTTAAGCCCACATCCACTGAGTAAAGAGTCACTTTAAACTTTATAAATCAAAGAGATATTAGGAACATTCAGAATTATTTGTGTTTTGTTTTTGTTTTACATTGTTGCTGCACTGGCAATAAGTATGTGGCACTGTTTTTATTTGTTTATGTTATTTAAATACACACCCAGACACACACACACACAGTTTTTGCTTTTTCTGGAAAATCTTTCTTTCTCTTCTCTCTCCATGAAAATTAAAACACACAAGTGAATGAAGTAATTACATAGTCCAAGATTAGAAATACAAGTAAAATATATAGGTATAGGTAGATAGAGTGCCTTTCTGTTTCTTTTCTTTTCTTTTTTCTTTTTTTGTTCTTCCTTCCTTTCTTCCCTCCTCCCCCTCATCCTTCCCTTTCTCCTTCTTTTCCCTTTTTTTTTTTTTTTTGACCTGGGAGTAATAAAGTTACTTTTTAAATGCACGTATGCAATCTTTTATTCCTCTTGTTTTATGGATAAGAGATTTGTTCAGGTCAAAAGTTGCAAAACTGTTCTGAAGCTTAATATTAGAGACCCAAGTAAGATTGTTTTTAGTCTTGCTTGAGGAATGCACACTCCATTTAAAAAATTGTGCGCTCTGTAGATTTGGATTTTACAGCAGCAATTACTTGGCTAAATTAGAGTACTGCAATCTTGTAAGTAGAAAACAGCCACCATGACAATAAACAAAAACACTTAAAAATATTTTTAGCTTGTTTTACCTACATCTAGTTTCATTTCATCTTGCTTTGCTTTGTTGACTCTGCTACCGCTGATGTTTGCCTTGTCAATATCAGAATAGGGGCATCAGTGTCCCGTGAAATACATTTTGTTGTGCTATGAGCCTCTGTAATCAAATGCTTGTACTCAGAAGAGAGTGTAAAATCAGCATTTCTATGTAACATATATCTCTAATTATCTGTGTAATTTTATAACATACTTTGACAACCCCAGTGAGTTACTTAATAATAAAGATCTTAAAATAATGC)$ MASFSMDCSPSFCVPGLWNPFIIFRSRSSRRRLHSLGLAAMPEKRPFERLPADVSPINYSLCLKPDLLDFTFEGKLEAAAQVRQATNQIVMNCADIDIITASYAPEGDE|gvtqddfdvavlnftlt* 18BR009 ENSG00000253816.3 ENSG00000253203.6(43363),ENSG00000198237.8(152649) -/- ./- chr5:70219918 chr5:69722622 exon intergenic deletion 1 2 0 153 9 medium . . . . . ENSG00000253816.3 . ENST00000514522.2 . upstream downstream . ^(ATGGATAGGAGCAACCCTGTAAAACCAGCCTTAGACTATTTTTCAAACA___GGCTGGTGAATTACCAGATCTCCGTCAAGTGCAGTAACCAGTTCAAGTTGGAAGTGTGTCTTTTGAATGCAGAAAACAAAGTCGTGGACAACCAGGCTGGGACCCAGGGCCAGCTGAAGGTGCTGGGTGCCAACCTCTGGTGGCCGTACCTGATGCACGAACACCCCGCCTACCTGTACTCGTGGGAG___GATGGTGATTGCTCACACCAAAGCCTTGGACCCCTCCCAGCCTGTGACCTTTGTGACCAACTCCACCTACGCAGCAGACAAGGGG___GCTCTGTATGTGGATGTGATCCGTGTGAACAGCTACTACTCTTGGTATCGCAACTACGGGCACCTGGAGTTGATTCAGCTGCAGCTGGCCGCCCAGTTTGAGAATTGGTGTAAGA)CATCACAATCCCATTATTCAGAGCGCGTATGGAGTGGAAACGCTTGTAGGGTTTCACCAG|AAGCCAAGGAACACCATCTGAAGTTCTGAcGGCAACATCAGAAGCTAAGAGAAAGGCATGGAAAAGATTCTCACCTAGAGCATCCAGAGGAGAGGTTGGTCCTGCAGACACCTTGTTTTCTGACCTCTGACCTCCGC . 18BR009 ENSG00000152348.16 ENSG00000049192.15 +/+ -/- chr5:81987678 chr5:65334085 CDS/splice-site CDS/splice-site inversion 0 2 0 21 10 medium out-of-frame . |ADAM-TS_Spacer_1(100%),PLAC_(protease_and_lacunin)_domain(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Thrombospondin_type_1_domain(100%) . . ENSG00000152348.16 ENSG00000049192.15 ENST00000282185.8 ENST00000381055.8 downstream downstream . ^(GCAGTGCGCACGCTCCGACTCGGCCGTGGCGGACCTGACTGAAGGAGGCCGCGGACCTGACTGAAGGAGGCCACGGCCACTTCTGGTTGGCCTCGGGGCGCGCTGGCTCGGCTCTTCCTCCGCCCTCGAGGCCCCCGCAGTCCCATCATTCAGTTCCGTAGGGTCACCGGCGCGGCAGTGGCCTCGCAGGGCGCTGGGTCCCTCTCCCCAGCTCTCCTCCCCCTGGCCCCGTCGCCCCGCCCTCGCCGGGCTGGGCTGCGGGGTCAGGGGCCGAGCGGAGAGGG___TTATCATTTAACATGGAAGAAGATGAGTTCATTGGAG)AAAAAACATTCCAACGTTATTGTGCAGAATTCATTAAACATTCACAACAGATAGGTGATAGTTGGGAATGGAGACCATCAAAG|ATATGATATCTGCACTTATAAAAATAAGCCCTGTGGAACACTGG___GCTTGGCCTCTGTGGCTGGAATGTGTGAGCCTGAAAGGAGCTGCAGCATTAATGAAGACATTGGCCTGGGTTCAGCTTTTACCATTGCAC(ATGAGATTGGTCACAA___TTTTGGTATGAACCATGATGGAATTGGAAATTCTTGTGGGACGAAAGGTCATGAAGCAGCAAAACTTATGGCAGCTCACATTACTGCGAATACCAATCCTTTTTCCTGGTCTGCTTGCAGTCGAGACTACATCACCAGCTTTCTAGA___TTCAGGCCGTGGTACTTGCCTTGATAATGAGCCTCCCAAGCGTGACTTTCTTTATCCAGCTGTGGCCCCAGGTCAGGTGTATGATGCTGATGAGCAATGTCGTTTCCAGTATGGAGCAACCTCCCGCCAATGTAAATATGGG___GAAGTGTGTAGAGAGCTCTGGTGTCTCAGCAAAAGCAACCGCTGTGTCACCAACAGTATTCCAGCAGCTGAGGGGACACTGTGTCAAACTGGGAATATTGAAAAAGGG___TGGTGTTATCAGGGAGATTGTGTTCCTTTTGGCACTTGGCCCCAGAGCATAGATGGGGGCTGGGGTCCCTGGTCACTATGGGGAGAGTGCAGCAGGACCTGCGGGGGAGGCGTCTCCTCATCCCTAAGACACTGTGACAGTCCAGC___ACCTTCAGGAGGTGGAAAATATTGCCTTGGGGAAAGGAAACGGTATCGCTCCTGTAACACAGAT___CCATGCCCTTTGGGTTCCCGAGATTTTCGAGAGAAACAGTGTGCAGACTTTGACAATATGCCTTTCCGAGGAAAGTATTATAACTGGAAACCCTATACTGGAG___GTGGGGTAAAACCTTGTGCATTAAACTGCTTGGCTGAAGGTTATAATTTCTACACTGAACGTGCTCCTGCGGTGATCGATGGGACCCAGTGCAATGCGGATTCACTGGATATCTGCATCAATGGAGAATGCAAG___CACGTAGGCTGTGATAATATTTTGGGATCTGATGCTAGGGAAGATAGATGTCGAGTCTGTGGAGGGGACGGAAGCACATGTGATGCCATTGAAGGGTTCTTCAATGATTCACTGCCCAGGGGAG___GCTACATGGAAGTGGTGCAGATACCAAGAGGCTCTGTTCACATTGAAGTTAGAGAAGTTGCCATGTCAAAGAACTATATTG___CTTTAAAATCTGAAGGAGATGATTACTATATTAATGGTGCCTGGACTATTGACTGGCCTAGGAAATTTGATGTTGCTGGGACAGCTTTTCATTACAAGAGACCAACTGATGAACCAGAATCCTTGGAAGCTCTAGGTCCTACCTCAGAAAATCTCATCGTCATG___GTTCTGCTTCAAGAACAGAATTTGGGAATTAGGTATAAGTTCAATGTTCCCATCACTCGAACTGGCAGTGGAGATAATGAAGTTGGCTTTACATGGAATCATCAGCCTTGGTCAGAATGCTCAGCTACTTGTGCTGGAG___GTGTCCAAAGACAGGAGGTGGTCTGTAAAAGGTTGGATGACAACTCCATTGTCCAGAACAATTACTGTGATCCTGACAGTAAGCCACCTGAAAATCAAAGAGCCTGCAACACTGAGCCCTGCCCACCTGA___GTGGTTCATTGGGGATTGGTTGGAATGCAGCAAGACTTGTGATGGTGGGATGCGCACAAGGGCAGTGCTCTGCATCAGGAAGATCGGACCTTCTGAGGAGGAGACGCTGGACTACAGTGGTTGTTTAACACACCGGCCTGTCGAAAAAGAGCCCTGCAACAACCAGTCATGTCCACCACAGTGGGTGGCTTTGGACTGGTCTGAG___TGTACTCCAAAATGTGGTCCAGGATTCAAGCATCGGATTGTTCTGTGCAAGAGCAGTGACCTTTCTAAGACATTCCCAGCTGCACAATGTCCAGAGGAAAGCAAACCTCCTGTCCGCATCCGCTGCAGTTTGGGCCGCTGCCCTCCTCCTCGCTGGGTCACAGGAGACTGGGGCCAG___TGTTCTGCTCAGTGTGGCCTTGGACAGCAGATGAGAACTGTGCAGTGTCTCTCCTACACCGGACAGGCATCTAGTGACTGTCTAGAAACTGTTCGGCCTCCATCAATGCAGCAGTGTGAAAGCAAATGTGACAGTACCCCCATTTCTAATACTGAAG___AGTGCAAAGATGTGAATAAAGTGGCTTATTGCCCACTGGTGCTGAAGTTCAAGTTCTGCAGTCGAGCATACTTCAGACAGATGTGTTGTAAGACCTGCCAAGGACACTGACCCACAGAAAGCCAGAGAGAGTGCCTTGTCATTTCATCATGGAAATGCATCCATCAAAGAGAGCCACCCAGAGGAAGAGGATTGATGTCCTTGCAAATGCATTACCCTGTGGAAAACGTAACCACTGGTCAGCCCTAGCTGACAAAATTTCAATATTATTTTAGCTTCTGTGAAGTGGGATTTATTGATCCAAAGTGCTGGACACGGTATTAGGAGGGAATGCCAGATTGGAGAGATCCAAACAACACAGGGAGACTTGCTTACTGTGGAGCGTTTGTGTTCTTTCGAGTAAATCCAATAGCCTGTTTACCTCCTTGGACCATTAAGATAATTTTTATTATGGACTTAGCAATGACACTGAATCCATTTGTATTTAAAACTGTTTAAAATGTAGCTGTTATGACTTGGTCAACTATGGAAGTGAAGAAGGTTCAGAATTCTTAAGTCATAGCTTAAAAATATTTACTGTACTTTATCTCACTACAACAGCACCACAATTTAAATTATAAAACGGGCTTTGAACTATAATTTAAGGAGCAATTATAAATCAAAAGTAATGAAAGTTTGTATTATTTTTCTTCATTCCACTTAATTTCCTTAGGAATAATCCCCTGGTTCTGAACACTGCTGTGAGCCATATATAAAACTATATTAAACTGAACAATAATGAGGGGCATAGTTTAAAGCAGTGCATCAGTTACTGCAGCTGTGCAAGTCTATAAACTCAGTGCTGAAAGACTGTGGCCAACTTGCCATTGTGCAAGTAAAGCTGAGATTTCCATTAAAACTTTAAGAGAAAAACATTTCAATTTCATGCAGAAACCAGACCTGGGGTATGGTACAGACCAAAGGACCAGGCCCTTTGCTGCCACCACACAGGATGCCTTAGTTCTTATTTGAGTCCCTCCAACTCACTTGTGTTTACATCCTCCCCAGCCACAGCACGGCTTCTGCCCTTTGGATTGCTGCACGTGTGTTGAGCTTACTGAGATGATACCATGCAAAAGATAGACTGGCTCGGTAACCAGGCAGACCCTTTTGCAGTTTGTTGACAATTACGATGAGTTCCAGATGTCCCTTCTTTGATATGGTAGAAGGGCATTTATTTATATGAGAGCAAATGTGTGTGTGTGTTTGCGGGCGCTTTTAAGTGTGTGGATAGATGAGTGTGCTTGCACATAATGTGCTATTTCTGTGAGTTTTAAAGTAGGCAAGGGATAATAACCAAAGAAGAAAATTTCATGAAGACTAGACATCATAAAGCATAATTTTAATAGTCACTCAACCAAGTATTTTTTATTTTTTATGGATACTCTGAATGGCAATTAAATGTGAAACCCAGTTTCTTGGGCAAGTCAAATTCTGGAATCACATCCACCTAAATTAAAATGACTAGCTCGTATTTTCCCCATCTTCAAGTTTCACATCCTGGTCATCAAAAGACTCGACAGCAAGACTTAGAATGAAAAAGGGTACTTGTTTATATTAATATTTTTTACTTGAACACGTGTAGCTTGCAGCAGGTTCTTGATGAATGTGCTTTGTGTCCAAAATGCCTCCCCATTGTACACAGGTGTACACCATGCATGCACCAACACCTAAAACTCAAAACTAAATGGCTATTTTGTAAGGTTAATACTTTCAGTTAAACAGCATGTTTGACTTGATTCCATCATGGTGCTCTTAAATTACATGTCAGTGCATCACATATATCATGATCTAATGCAGATGACTAGGCTTTTTCCAAAAGGAAGACAGACCCTCAGACACCAAAAGCCAATCTAAACAACTCCCAGGTTTGCTGTGGACAATCAGCATGGAATGTTTTCTGCACTCTCAGTCATGACCATCTGTATCTTGTTACCTGCTTTCTCTCTCAACACCACAGTTCTCAACCCTGAGCCTTCCAGAGAGAGCTATTGATGATACAAGAGGAATCACCAGGGCCCGGATCTAAGATGCCCTTAGAAGACCAGCCCAAGTGCCGTCTTAGCCATTCAGTGAAGGGCAAACAGCCCATGGGTAGTATGGCCCGAGCACTGAATTCCCTTGCGCCTTTTCAAAGAACAGTTAACTTGGTGCTAATGTGCCCTGGTGAAATAAATAAAAGATGGGCAGTTTCTGTGGCATTTTAGGCATAGGTTTGCAATCCAGATCTGATTTTCTCCAACATAAATATCAGCTCATGTTCTTATTTCAAAAAGATTTCTTATTACCGACTAAAAGCTATTTTTTACCTCACCTGGAAACTACCATTGTGAGGGCCATCCCCCAGGCACTGCACAGCACCTTGGCTGATGCTGGAAGAGGAGGGCAGTCAGTGTCACTTCTGGGATGTGCCCCAGCACTGAGAACAAAATGCAGGCATCCCCCGGGGCAGCATCAGAGTGCCTTTCTAGAGGGAGCCACGCACAGAATGTAACAGGATGAAACAGTTTCAAGTAAGCCTTGAATTGAAACCTGAGTAGGTTAAAACAATTCTATTTCATAGCACATCACAATACTGCTGCTACTCTGTAGCCACCCCCATGGCTACATGATGCCCTATTCCTAAATAATAACAATAGCATTGTCAGTGGAGGCTGGGCCACCATGGCAGACCTTCCAAAAGTAGTGAGCTACATAGACTACTTAGGGAACCCCAGGGAAACTGGTACCCTACACCTGGGAGCAGTATCTGCCACTGGGATAAAGTCCTACTAAAAAAGGAACGGTAAATGTACCCTAATGATTAAACCCCGTGAGATACATATGATTTCCAAATAGTCCATTTCATTAGGAACTTTTTTGTTTGAATGAATGTCACATAGGTATCCTCAGTAACACAGAACGAAATTACCTTTGTATTATTGTGATTAGTTGTTGCTTATTATTTTATACTCAGTAATAATGTGGTACACTGTTAATTTTTTTGCTTTTGTAAATTATATTCTAATTTATTGCCATGTTTCCTAACACTTGTCCTACATTCATTCTCCTGCTTGTAATGAAAATGAAAAAATCATTGTAACACTTGATGGAGTGAAATTCCACGCCAGGCACAGAATTTTTTTGACATAGATAATTTAGTAAAATAAAAATTCAGCTTATAATAATGA)$ MEEDEFIGEKTFQRYCAEFIKHSQQIGDSWEWRPSK|i* 18BR010 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 5 0 152 76 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(13),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAA)GCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 18BR010 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 7 0 18 22 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(2) AGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGC(CTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 18BR010 ENSG00000166848.7 ENSG00000284484.1 +/+ -/- chr16:75648552 chr16:75669556 CDS/splice-site CDS/splice-site inversion 2 7 0 86 49 medium in-frame . BRCT_domain__a_BRCA1_C-terminus_domain(100%),Rap1_Myb_domain(100%)| . . ENSG00000166848.7 ENSG00000284484.1 ENST00000653858.1 ENST00000640173.1 downstream downstream duplicates(2),mismatches(1) ^(AGAGGCGTCTGCGGTGACAGCTCAGTCAGTTGAGCTCTGTGTGCCAGGCGCTCGCGAGGGGGTAGCTCTTCTAGTAGTGCTCGGCGTCAGACATGGCGGAGGCGATGGATTTGGGCAAAGACCCCAACGGGCCCACCCATTCCTCGACTCTGTTCGTGAGGGACGACGGCAGCTCCATGTCCTTCTACGTGCGGCCCAGCCCGGCCAAGCGTCGGCTGTCGACGCTCATCCTGCACGGCGGCGGCACCGTGTGCCGAGTGCAGGAGCCCGGGGCCGTGCTGCTGGCCCAGCCCGGGGAGGCGCTGGCCGAGGCCTCGGGTGATTTCATCTCCACGCAGTACATCCTGGACTGCGTGGAGCGCAACGAGAGGCTGGAGCTGGAGGCCTATCGGCTGGGCCCCGCCTCGGCGGCGGACACCGGCTCGGAAGCAAAGCCCGGGGCCCTGGCCGAGGGCGCCGCGGAGCCGGAGCCGCAGCGGCACGCCGGGC)GGATCGCCTTCACGGATGCGGACGACGTAGCCATCCTTACCTACcTGAAGGAAAATGCCCGCTCGCCCAGCTCCGTCACCGGTAACGCCTTGTGGAAAGCGATGGAGAAGAGCTCGCTCACGCAGCACTCGTGGCAGTCCCTGAAGGACCGCTACCTCAAGCACCTGCGGGGCCAGGAGCATAAGTACCTGCTGGGGGACGCGCCGGTGAGCCCCTCCTCCCAGAAGCTCAAGCGGAAGGCGGAGGAGGACCCGGAGGCCGCGGATAGCGGGG|CTTTCCCAGCTGAAGAGGATCATCATAATGAAGAAAGACAAACAAAGAAAAAAAGAAAAACAAAACACCGACATAAATTTTCTGAAGAATTATTGCAGGAACTTAAGGAAATATTTGGAGAGAACGGTTATCCTGATTTCACCACTAGGAAAACACTGGCCAACAAATTTGATTGTCCGGTTAACGTGATAAAC___AACTGG(TTCCAGAACAATAGAGCCAGACTTCCACCGGAAGAAAGACAAAGAATATTTCTTACTTGGAAAAAACACGATTTCCCAGTCCAAGCCTGTCCATTTTTAAGCCTCCAGGAAACCCAGGCTGCAGCTTCCAACTATGCCACAGAGCAGAGTTTTTCCTGTGCCAAGAGGGCTCTGATGAGAAGACCTGGTTGCTCCCTTCTGGAGAAACAGAGGATTGCCTGTCAACAGATGGGCTACAATTGCTTCTCTTTGGAGAACCAAGAGACTCCCAGTCAACAGGTGGGCTCCATGTGCTCTTCTCTGGAGAAACAAGGGATTCCCAGTCAACAGGTGGGTTCCCAGTGCTCCTATCTGGTCGCAGGTACTGAAAAGCATCCAGGCTATGCTTTGGAGTATGGAGGTGACACAGGAAGTGAGCATTCTACTGCCTATCGTTTTCTCAGCTACAACTCTGCAGAATGCCTTCATCCTCCCCCATCTTCTGTGCCATATTTTCATGGAGAAAGGACTGAAACCAGGGAAAGCCAGCATGCAAGTCCCTTCCTTTTGGATTACGCTCAAGGTGCTTACGGGGTGAAGAAAGACCATTGTCTTTGCTCATTCTGTCTCTCACTGCTGCAAGAACAGCAGCAGAATGATTGGCAGTATCACCCACAGCAGCACCAACAGCCTCAGAATTACTCAGAGGGGATGATGTTGCAGGAACAGCTGCCAATGGACTCGGGTCCTTGGGATCTAGAGAAGCAGTGGCCCTCGGCTCAGTCACAGCTGCAGAGTCAACTGCCTCAGAATAATGGAAAGCCGTTGTGCTCTCAACTGCAGCACGTGCCTCCCCAAATAGCTGCCAACTCACCCCTGCTGCCTCTGGGGCAAGATATGCAGGTAGGGGCTTCAAGCAACTCAGGACTCAAATGCAGCAGTTTTAGGTTGAGGGGTCTACACGGGCCTGCCACAGGAACCCAAGGATGCAGCTTTGCAAAGTATTGCTAAGTATCACAGAACCATAGCCACAGGTCA)$ MAEAMDLGKDPNGPTHSSTLFVRDDGSSMSFYVRPSPAKRRLSTLILHGGGTVCRVQEPGAVLLAQPGEALAEASGDFISTQYILDCVERNERLELEAYRLGPASAADTGSEAKPGALAEGAAEPEPQRHAGRIAFTDADDVAILTYlKENARSPSSVTGNALWKAMEKSSLTQHSWQSLKDRYLKHLRGQEHKYLLGDAPVSPSSQKLKRKAEEDPEAADSG|aFPAEEDHHNEERQTKKKRKTKHRHKFSEELLQELKEIFGENGYPDFTTRKTLANKFDCPVNVINNWFQNNRARLPPEERQRIFLTWKKHDFPVQACPFLSLQETQAAASNYATEQSFSCAKRALMRRPGCSLLEKQRIACQQMGYNCFSLENQETPSQQVGSMCSSLEKQGIPSQQVGSQCSYLVAGTEKHPGYALEYGGDTGSEHSTAYRFLSYNSAECLHPPPSSVPYFHGERTETRESQHASPFLLDYAQGAYGVKKDHCLCSFCLSLLQEQQQNDWQYHPQQHQQPQNYSEGMMLQEQLPMDSGPWDLEKQWPSAQSQLQSQLPQNNGKPLCSQLQHVPPQIAANSPLLPLGQDMQVGASSNSGLKCSSFRLRGLHGPATGTQGCSFAKYC* 18BR010 ENSG00000232063.2 ENSG00000196597.13(7089),ENSG00000196312.15(25770) +/+ ./- chr9:94339020 chr9:96861603 exon/splice-site intergenic inversion 2 0 0 2 1 medium . . . . . ENSG00000232063.2 . ENST00000454869.2 . downstream downstream . ^(GAGGCGGGCGGGGTTCCAGCGCGCAGCCGGCCGCCCTCAACCGCTCCCAGCATCGGTTGCCGGTGGTTCGGGGCAGGGAGACGACGCAGCGCGAGCGGAAAGGGCGGTTACCCAACGGCCTTAGCTCTCATGGCGTCCTCCGTGGTGTTACCTAAAAATAAAGTTATTTGTGATTAGAAGGTAATCGCCTCCTGGTCATGCTTCCGCTGGTCAACAGTGTCTGCGGGGCGACCCCATCCTTGTGGCCAGAGAGGGCCTGTGGCTGCGCTCAAGGCGGGAGCGGTCCTTAGCGGGGCCCTGCGGGACGCCCAGGCCGCGCTCCTTTCCCTTGCTCGCCTGGCCTTGAAGTGAAGGGGGAGGTTTAACAATGCAGTGGGAACCCCAAAGTTTGTCTCGGCCGTGCTGCTCACATTCCAAACAATGCAAAAGGTTGAGGAAAACCTCAGCAGTTGAAACCGTGATGCATTTCAGCAAAGAAGTAGCTCCTGTCCTCGTAAAATCAGTGAAGTTCTCACGGACGACCTCATTGA___)AAGTTTTCATGGGCTGAGCTGCTGACTTCAGCCTGGGAACTGAGGCCAACATCGGAGTCTCCTCGGCACACAAGTTTGAAAGAAGTCCTAGTGACTTCAAGCTCAGAACCATGGACGGCAGGGCTCCCTCTGGATGTGGAATTCTCCGTCCCTTTCCAGGGAGGGAACAAAGCCCACAAGCACCG|GATCTCACTTTGTCACTCAGGTTGGAGTGCAGTGGCACAATCACAGTTCATT . 18BR010 ENSG00000079332.15 ENSG00000121892.15 -/- -/- chr10:70151419 chr4:39825369 3'UTR/splice-site 3'UTR translocation 2 0 0 250 137 medium stop-codon . ADP-ribosylation_factor_family(100%)| . . ENSG00000079332.15 ENSG00000121892.15 ENST00000431664.6 ENST00000303538.13 upstream downstream . ^(ATGTCTTTCATCTTTGAGTGGATCTACAATGGCTTCAGCAGTGTGCTCCAGTTCCTAG___GACTGTACAAGAAATCTGGAAAACTTGTATTCTTAGGTTTGGATAATGCAGGCAAAACCACTCTTCTTCACATGCTCAAAGATGACAGATTGGGCCAACATGTTCCAACACTACATCCGA___CATCAGAAGAGCTAACAATTGCTGGAATGACCTTTACAACTTTTGATCTTGGTGGGCACGAGCAAG___CACGTCGCGTTTGGAAAAATTATCTCCCAGCAATTAATGGGATTGTCTTTCTGGTGGACTGTGCAGATCATTCTCGCCTCGTGGAATCCAAAGTTGAGCTTAAT___GCTTTAATGACTGATGAAACAATATCCAATGTGCCAATCCTTATCTTGGGTAACAAAATTGACAGAACAGATGCAATCAGTGAAGAAAAACTCCGTGAGATATTTGGGCTTTATGGACAGACCACAGGAAAG___GGGAATGTGACCCTGAAGGAGCTGAATGCTCGCCCCATGGAAGTGTTCATGTGCAGTGTGCTCAAGAGGCAAGGTTACGGCGAGGGTTTCCGCTGGCTCTCCCAGTATATTGACTGATGTTTGGACGGTGAAAATAAAAGAGTTTTACTTCTCTGGACTGATCCTATTCACAGCTTCCTCATGAACTTTTCTAATAGAACAAGGAAAGCTCTCCAACCATGTCTGGCGTTGAGAAGCCAAGAGTCTCTGTCAACTCTCTCATTGCCCAGTGGTGACATGTGCTCTTCTCCACACTGTTGGGAGGTAATGCTGCCCCACGTGCTGGTGCAGGTCAGTATCCTGGGACTTGGAAGCTGGCAGGATTTGCCGGGTAAAGCTGTATGCCATCATGGGGCACCTGAAAAGAAAAACACGTCTCACCACTGTGGTTGATTCAAAAGAAAGTGATTCTATTTTTTAAAGAAAGCGTTGTTAATGTAATTGGTATCCCTCCTAACTTTTTGAGTTCACAATTTACTTGGTCCAGAGTTTTCTATTCTTTTTTTTTTTTAAACTAATGAATGACATTTAGATACTTCATAAAATTATGAACAGATATGGAGGCCAGAGCTCATTTGGGTAAACTTACTCCTGCTGAGTTAGCAGGTTGGTGAGAGAAGCTCCCCTGAGCTCACCTGTCTCTCTGACTGCCTTGGAGTAGGTGGCATAACCTTGTGCACAGAGAACTAGAAAAGGGGCAGAACCCCGGCCTTGCAGTTGTGGCAGGTTTCCACTGTGGTAAGCTAGGTTCATTCCTCATCAAGGAATGTGTAGCAGATTGTTCACTGTGGAGGAGTTAATTATAGAATGGGTTATTGTTGTTATTCTTACTCATGAAGTTACAGATTTTAGCCAGTCTTTGCTTTTATACTTTTGTGAAATTTAATTTCTCTCTATAGCACCTTCCTTTTTCGTTTTCAGTTATCAAAAGTGACTTTGACCTCATAAAAGAGTTGAGAACATCTCTCGTGTCACATACTGCAGGTGCATCAGTTACTTTTGCACAGATTCTAGGG)GGACATTTTTCTGAATAGGAAGACAGGACAAAGTTAACAGCTTAAGGGCTCTTAATTCTGTGAGTTGAGGACTTAAAAGTATTGTAGCATTTGTTTGGATCCATGAAAAATGTATTCAG|CACTCTCTGCCTTGAAAACTAAAGAGACTATTACTTCCTTTTCACATGACCACAAGTCCTCTGATGGAAATGTACAG(CAGAAACTCTTGAGAGAGAGGCTAAAAGCAACTCTGTTCTCCCCCTTCCCCTAGACTTTTCTTACGAAAAGTCAATAATTAAGCAAATTGCTTAACACTTGGTTCCAGTTCCTGCCTATCTGGAGTTTAAATGCGTAATACACCATTAATTTCCACGCTGCAGTTTTTATTTTAAAGAAAGTAACAAGATGTCTTTACACTGACACTGAAAATTCATCCATTTTAGAGCCAGGAATTCCCATGTTACACAGGAAAAAATAGAAGTCTACTGAATTAATTTTTTAAAAGAAAAGAGATCAGATTAAATATTTCTTTGTTTTTCCTTTTGGAAACTTTTATGTATAATTCTTTCTGCCTGCCTACTTTTCTGCAAAAATGAGATGTACAGATTTCGGTTCCCTGCTATGAAAAGTGATGTGGTAGCAATTTTATAAATGTTGCTTTCTGATTTTTATCAGAGTGAGAAAATTAAAATTATTGATTTGCAAGTAGTAAACAGTTCATATTTTGATTTCCCCTCATTTTAGTTTAATATAATTTGCAATAAATGTACATATTGTTGTTTGTTTCATAAAGCATATCACTTTAAAATGGTTTTTACTCCTGTGATTATGTTGGAATATTTGGAATTTTAAAGGAGTAAAGACTGTCCAGCATTTGGTTTTATAATGTTTGTCACCAGATTTTTATTAATGTAAAAAAAATCAATTTTTAAAAAATAGTTGGACTTTGGCAGCTTTTAAGGAAAGTTGGAGGTGTTTTAGGATTGCTATCAATTTTCAGCATTGTGCTATTTGGAAATAAGTGTTTTGCTTTTGTCTGATGGTCTGGGCTCATTTTTATGTTTATTTTAGAAAACTGTTGCATCAATATATTATGTTTCTTGGCATTGTTCAGCATAGGTAATGTGTGCACTTTATGTGTACACATAATCATATTTAAGTTTTTTGCATAAAATAAATGCTTCTAGATGTCATGGCAGTCTTTTTAATCTTTTTATCATATGCTTTCTTGTGAATTTTTTCATGTTAAAGAGCTAAAGTCATAACATGATTACAGTCAACTCTCCATTATCTATATAAAATAGTGACTAAGCCTCAGGTTTTTAATTTTGTGATAACAAAATAACGAAGGCATGTAAGACCTGATTCTGGAGGAACATGAAATTTGTCTTTTCTCATGTCCAGAGTTCTATCCTGCCCCCACTGTCCACTGTAGGGTCATCCGCAAAGCCCTAGCAGAATGTGCTCACTCCATTTCCTTACACGTTTCTAGCATGGGTCAGAGGAAACAACATTTGTGTTATAACTTCGTCTTGATAGGCTGTAGTGTACATGGGATGTAAAACAAACAAGTGTATCAAAGGTGGATGATTCTGTTAGAGTGAAGTTTGAGAGTAAATGTCACTTACGTTTCTCATAGATAATCAAGAGTTGGCTGTGTATTGACTGAAAGATGGGTAATTATTTTAAATATGCATTTACACACATTTAGGTATCAGAAGATGCTTAGGGAACAATGGATACCAATGATAGAAAATGATACCTTTACAGGGGCAGAAAAATCCCCACTCTTCCTTATTGCCTCTTCAGAACCCTTTAGAAAGTATAAAATATTGCCTCCAACATGCTGAAAAAGAGTATCTATGCATAAGTATCAGAGAAGTCCCTCAAGCAATCAGTAGGTGTGTTCTATTTAGAGAGAGTTTAAAGTTCTCTTAGCATCAGACAACTTGATTCCTAAGGTTTCCAGTGTGTCACCAACAAAAAGTGCATTGATAGGGACCTTTGTCTCTTCCTCCCTTTGATTAATTGCCCGGCATCACAGTTTACTAGATTACCAAGTGTTACATCATATTAAATAAAATGTAGCAGAACCATCTGCATCAATATATTCCTGTTTAGATTTTTGCAGGAGAGAAGTTAAAAGGATTTGCTCCTTGTATGATGTAAGTGGCCCACCCCAATTTTGTAACATGATGCAAGTGTCTGGCACTAAGGGAAGCAAGAGTAGGGTTGTGGAAAGACCAAGCTGATGGGGAGGGACTTGTTTACGGGAATTTTTTTAGTTTTCCTTTTCAAAGGAAAACATTAAAATCCCTTAGGAATTTGGTATTCACATCTCAGAGAACTACAACACAAAAGTGCAGACTTATATTTGAGAATTAATGTTAACCCTTTGTGTCTAGTTTGAAGCTTCTTGTATTTGTCTAAAACAACAAGCCAGAATTTTGTATCTCCTTTGATAAAAAGTGTGTATAATGTAAAGTAGTTTTGCATATTCTTGTGCTGCACATGGGCTGAATTTTTAAATTTTTTTTAAAAACTTGAAGCAGAACCTTGTAATTTGTGTAAATGACAAGTGTAAAATCCTACCATAAAATGCTAAAAATATGCACTGTTTCAAATAAAACCAAGAAATGCAGCATTA)$ . 18BR016 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 21 14 0 46 50 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(2),low_entropy(1),mismatches(1),multimappers(2) GGGGAGCGCGCCATGCCCAGCAGGACCGGCCCCAAGATGGAAGGGAGCGGCGGCCGCGTCCGCCTCAAGGCGCATTACGGGGGG...___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGAC(AGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 18BR016 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 5 25 0 67 374 high . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000369458.8 upstream downstream duplicates(2),low_entropy(2) AGGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG___GGAGACACTCCATCACAGTCACTACTGTCGCCTCAGCTGGGAACATTGGGGAGGATGGAATCCTGAGCTGCACTTTTGAACCTGACATCAAACTTTCTGATATCGTGATACAATGGCTGAAGGAAGGTGTTTTAGGCTTGGTCCATGAGTTCAAAGAAGGCAAAGATGAGCTGTCGGAGCAGGATGAAATGTTCAGAGGCCGGACAGCAGTGTTTGCTGATCAAG(TGATAGTTGGCAATGCCTCTTTGCGGCTGAAAAACGTGCAACTCACAGATGCTGGCACCTACAAATGTTATATCATCACTTCTAAAGGCAAGGGGAATGCTAACCTTGAGTATAAAACTGGAG___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACCA)$ . 18BR016 ENSG00000230223.7(287724),ENSG00000202433.1(22648) ENSG00000150361.12 ./- -/- chr13:70436816 chr13:69975802 intergenic CDS/splice-site deletion 14 13 0 61 46 high . . |BTB/POZ_domain(100%),BTB_And_C-terminal_Kelch(100%),Kelch_motif(100%) . . . ENSG00000150361.12 . ENST00000377844.9 upstream downstream duplicates(2),mismappers(3) AGAaTGAGTGAGCTCTCACGAGATCTGATGGTTTTATAAGTGTTTGATGGTTCCTCCTGCGTTTATTCTCCTTTCTGCTGCCTTGTGAAGAAGATGTCTTGCTTCCCCTTCACCTTCTACCACAACTATAAGTTTCCTGAGGCCTCCCCAGCCATGCTGAATT|GCTGTCATCAACCGGCCATTCAATGACACCTCAAAGTGATTTGGACTCCAGTAGCTCTGAAGAATTCTATCAAGCTGTTCATCATGCTGAGCAAACCTTCAGAAAGATGGAAAGTTATTTGAAGCAGCAGCAACTTTGTGATGTTATCCTGATTGTTGGGAACCGAAAGATACCTGCACATAG(___GCTTGTTCTGAGTTCAGTCTCCGACTATTTTGCGGCCATGTTTACAAGTGATGTTTGTGAAGCCAAGCAAGAGGAGATCAAAATGGAAGGCATAGACCCCAATGCTCTCTGGGACCTTGTCCAATTTGCATATACAG___GCTGCTTGGAATTAAAAGAGGACACCATTGAGAACCTTCTTGCTGCAGCGTGCCTTCTTCAGCTTCCACAGGTGGTGGAAGTGTGCTGCCACTTCCTCATGAAGCTTTTGCATCCATCTAACTGTTTAGGAATTCGAGCCTTCGCAGATGCTCAAGGATGCATTGAGTTAATGAAGGTGGCCCACAGCTACACAATG___GAAAACATAATGGAAGTTATCAGAAATCAAGAGTTTTTACTCCTTCCAGCTGAGGAGCTCCATAAACTACTGGCCAGTGATGATGTCAATGTTCCTGATGAAGAAACCATCTTCCATGCATTGATGATGTGGGTCAAGTATGACATGCAGAGTAGATGCAATGACCTGAGCATGCTTCTTGCCTTTATAAGACTGCCACTGCTTCCACCACAG___ATATTGGCTGACCTAGAAAATCATGCATTATTTAAGAATGATCTGGAATGTCAAAAGCTGATTCTAGAAGCAATGAAATACCATCTATTGCCAGAAAGAAGAACTTTAATGCAAAGTCCGAGAACTAAACCCAGAAAATCTACAGTCGGAACTTTGTATGCTGTAGGAGGAATGGATAACAACAAAG___GAGCTACAACTATAGAGAAATATGATCTGAGAACAAATCTGTGGATCCAGGCAGGGATGATGAATGGCAGAAGGCTGCAGTTTGGTGTGGCTGTTATTGATGACAAACTCTTTGTAATTGGAGGTCGAGATGGCTTAAAGACATTGAACACTGTTGAATGTTACAATCCCAAAACCAAGACATGGACTGTCTTACCACCAATGTCAACACACAGACATGGTCTAG___GTGTAACAGTACTTGAAGGCCCTATTTATGCTGTGGGAGGCCATGATGGCTGGAGCTATCTGAATACAGTGGAAAGGTGGGATCCACAGAGTCAACAATGGACATTTGTAGCCAGTATGTCAATTGCTCGGAGCACAGTTGGTGTAGCAGCATTGAATGGCAA___GTTGTATTCAGTTGGAGGTCGTGATGGAAGTTCCTGTTTGAGTTCAATGGAATATTATGATCCTCATACAAATAAGTGGAACATGTGTGCTCCCATGTGTAAGAGGAGAGGGGGTGTCGGAGTGGCCACATGTGACGGTTTTCTTTATGCAGTAGGAGGTCATGATGCTCCTGCTTCAAATCACTGTTCCCGGCTACTGGATTATGTAGAAAG___ATATGATCCCAAAACAGACACTTGGACCATGGTGGCTCCTTTGAGTATGCCCAGAGATGCTGTTGGGGTCTGTCTCCTTGGTGACAGATTATATGCTGTTGGTGGCTATGATGGACAGACATACCTCAACACTATGGAATCCTATGACCCACAAACTAATGAGTGGACACAG___ATGGCTTCCTTGAATATTGGGAGAGCAGGTGCCTGTGTGGTAGTCATCAAGCAACCTTGACTTATTGATATTTTACTTGGAAAGATTTTACTTGCTGGAGTGGTTATTTTTATATTGAATGGCAAGAATGAGAACTTCCAGAGATGAAAACTCTTCAAGAACAAGGATCTCTGTAGCGTTACCTACTGATGTTGAAAGAGTTAGTAGATCAAACAGAATAGTAGGAAACAAGAAAACATTAAACTTATACAGGAAAAATGTCTGGCCATATGTTAGTTAGTTCGGGAATGGTTATTGGTAATTTGTTTTGTATTATAGCATACAATAACTAGAGTTACCAAAGGCTTGTTTTTTCTTGAGCAGTTGAAAGGAGAGACCAATATTTGTGACATGGATAGTTTCATGACCACAACTCATTCAATCATTTTATAGTCTATGGCAATATCCAAGAGATTGCCAAGAGTAGAAGACAGAATATTTCATCTGACAGTATCTGATTGGTTTACTGTTTTTCTAATCATATGTGGTCATAACGGGAAGCAGAATTATGCTTTATTCAAACAAACCTGCTTCTGCCTCATTTTCCTAAGCTATGAGAACAATTAGAGAAACAGATTCATGCTTGTATCTTGCATTCAGAAAACAAACTGTCCTACTAATCAAAGCTGCATATCTCATCAGAGATAATGGTTGAATTTTATTGCAACCATATTGGCAATCTGAAACTGGCAAACACAAAGGATTGTTTTCACTAGGCTTACCATTTTGCTTTGCTTTTTTAACACACTGAGCCAAAGATGCAGTGTAATTATTGGGCTTTTGCCTTATGTTGAGTTCAGTGTAAGCATGGAAGCTAGTGATTCTGAATGATATATATATCCATTGCATGTTGAACTCCTTTAGAATTTTGTTCTTAAACAAACTTAGAATTTCAAAAGAAAAACATATGATCCATTAAGTTGGAGTGTTTATGATTATTGCTAGAAAGAAGGCAGACTTCATATTCTCATCGCCCATTTTTCAAACTTGTTACATTGATCTGTACATTATTTTAAGCCACATGTTTGTAATTGTTTAAAACAAAGTGGAAACATTACACAATGTCCTTAATAAATAGGCCCATGTAAATTTTAATTACAATTAATAAATGATCAAAAAATTTGCA)$ . 18BR016 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 13 13 0 74 33 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1),low_entropy(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACG)AAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 18BR016 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 15 0 19 148 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(1) CGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGA(ATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 18BR016 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 5 0 143 51 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAA)CTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG___ACAAAAGGACGTGGAATGTACTTTCTGCTACAGCCATTACAGTCAACTAGATTTGAGTGCTGCC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 18BR016 ENSG00000107099.15 ENSG00000256709.2(20202),ENSG00000202407.1(78542) +/+ ./- chr9:271729 chrX:106348026 CDS/splice-site intergenic translocation 1 4 0 12 7 high out-of-frame . . . . ENSG00000107099.15 . ENST00000432829.6 . downstream downstream . ^(GACAGACGAGGTTTGCGCTTGGCTGGGCATGTTCCGCGGCTACTCTGCGGCGCGCCAGGCCCCCGCTTTCCGCACCCCGCGACCCTAGAAGCCACCGAACCGCCGGCGGGCCATGGCCACTCTGCCGAGCGCAGAGCGCCGCGCGTTCGCGCTCAAGATCAACAG___GTATTCTTCAGCGGAAATAAGG)AAACAGTTTACTCTCCCACCAAACCTTGGCCAGTACCATCGACAGAGCATAAGTACCTCTGGCTTCCCCTCTCTTCAACTA|GGACTGCCAAGGCTTACTGCCCTAAATTGTGGATTGCATCCTCCTAGAATGCCCATGGACTCCACTTCCAGCTAGCCCTGACTCG___GTGCAGGACAAAGGACAGAACTCAAAGTCATCATTCTGCTCACCTGAGACAAACGCATATTTGATTGCTTCTTCTGCCCTATTGTTTATGCAAAAATGCAGATTCAGCGAG MATLPSAERRAFALKINRYSSAEIRKQFTLPPNLGQYHRQSISTSGFPSLQL|glprltalncglhpprmpmdstss* 18BR016 ENSG00000134061.5(18305),ENSG00000251206.1(52918) ENSG00000249364.6 ./+ +/+ chr5:67215104 chr5:67619791 intergenic exon/splice-site deletion 1 1 0 3 4 high . . . . . . ENSG00000249364.6 . ENST00000668508.1 downstream upstream inconsistently_clipped(1) GGCACCCAGGAGGAGTCCTTCCAGCAACTGAG___AGGACTTGGTCCGATTCTACCTCCGGAACAATGCTCAGCCCACAGCCCTCATTCCCTCCGTGATGAACAGTAACTGTGGACcTTTGACCTTCCTCTTGAGCTTGGTCTGAGTCTTGGCATTTACAACCACGGCTCTAG|GGGTAAAAGCTGACTTGGCAGAAGCTGTCTGATACTGTGGGTCATCCTGACCTTGAGACTGCGCAACGTGCCCTGGCAGATTCAGAGTGTGTCCTGCTAGAACCCATGTGCTGGACTCATTTCCA___AGTGTGCCTGCAGCATGCATTCATTACTGCATCTGATGGAAGCACAAAGGGAGAGACAAAGATGCAGAGAACAATG(___GATATCTGCCAGTGAATGAGTCTGTTGAAATCACCACACCAAATTCAACATTAAGGGCCAACCCTGACCACAGCTGAGCCGTGTGAAGAGGCTGACAGCGGCGTGGCCACCACCCAGGATGGAGAGAAAGGCACTGTGAGGTGTTAATGGAAAAATCCAACTTCCTTTTCTTCCAAAGATGATGACTGAAACCAAAGTGGAGCTTTCCCT___TGTGAAGTGAAAGCAAAGTTTTAAAATTTTTTCTCCTCTGCAAGAAAATATATTTCAGAAAATCTCTATCTCAAAAATGAAGCAATTAAGAACTGTCTGGCTGTGAGGATCTGGCCTCAACTTGACTTAAAGCAACAACTTCAGTTACATATCAAGATGTGCGTGAGAATGAACCTGCTCTGCTCAGCCAACGTGCTGAGTGACTTGATGTTTGTAATAAATAAATAAATAAACAACAAACAGGTTGTCATGAAATATCCTTTGTAATTATAAACACAGGAAACTTTCTGAGATGCAAGTGGGTGTTAAATGGTTCAGCAAAGCCAAGCCAGAGCAGTTGGTGTGCTTTGAAATGAAGCAACATTGGAAAAATGAAATCTACTGAAAGATCACTACGTGTTTCAAAG___AACTGACTAGAACCAGAACTCTTCAGAAAAGAATGTGCTAAAGGTTTGTCCTTGAGAAGTTTCCAAGCCAAGACACTCCTAGGAGCACTTCCCATTGAGGCCGAAAGGCTCATCCACTTACAGCGATTCATGGGAAAAGAGGACAGCACCCTCATCTTTGGTCCAAGAACACAATCCTGAGTGACACAGGATTGCCCTGAAAGTCAACAGCATCCGTCTTACAAAAATCAACAACACTCGCTTTTCAAACTTCCAAAGAATTTACTGGTCTGGTTTGGCCTTTTGGTGCCACATTCCATTCCAGAACCCCAGCTAAAATGTTCTCAAGGGCTGACCAGAGATTCCTCCTCCTTTCTCTGGGCTGGTACAACTTGACCGCTGCTTGACATCAAGGTCAACTGGAGACTGGGAACAGTTATGTAACTGTGTTGTAAATTGAATTAGAGCTGTACATGAGCCCAGACCAAGTAACCAGTGCAGCTCCAGGCAAGAGCAGCAACATGTCCCCCAGAGACAGCATTGGAGGAACAGCTTACTGGGGAATGGAAAAAGGGTATCACAGGGTAAAAAAGAAACCGTCTCTTTCCAGTCCTTCTAAAGTCTGGGCAGTTGGCTGCCCCATCACATGTGGAATAAGAGGGGGGCATTAAGTGCAGAGGGAGCTGGTGTCAGTATGGCAGGCAAACACTGAGGAAAAATCAGCATACATAGTATACACAAAGAGAATGAGAAAAAAATATTTGTAACACCAGAACAGACACCACCCAGATGAAAGAAATAAGAAGGCTTACACGTGGAGAGGAAAAAAGCCTCTGGCAGTGGTCAGTGGACTGTAGAATGAGCAAGAAAGGCATGACCATCCTCCTACCAGTGACTGGTCATTCTGGAGAGGATACATGTGCACAGATCTGGAAAACCAGGGCTGAAAAGCCTTTTGACACCTTTGGTGACCTAGGACATGGTCCCCCAATGTAAGACATCATGCTAGATAGAGGGGAAAATAGTAAGTTTTCTTCAAAGGCAAATGAATACAACTTGAGATAACTTTTGAAAAGAAAAAAGGTACTGGGACCATGGCATGACTTTGATCTGTGCTAACATGACCGCCTGCAGAAGCAGATGAGGAGAGGCAGAATAATGTAAAGCTGAAAGCTTGGAGTCACCAAACCATAGATAGCTTCACCTCTTACCAAGTGCTTGATGTGTGGCTAGGTTCTTAAATCCCCTACAAGTTCCAGCTTCCTCATCTGTAAAAAACGAGCAAGTTAAGACTGGGTGAGTTAATAGATGTAAAAGTACTTAGTACAGTACTCTACAAATAGTAAGTGCCCAATAAATGTTAACTGTTATTATTATGTATTCTGTCCTTCACTATGTTAGGCCCTGGGATGTAGTGGTGACAGGCAAGGCTGCTGCTCTTGTGGTTCTTACATGAAACAAGGGAACAGGGAAATAAACAAAATAAATGCAGACTATGAAAAGTGCTAAAGAATAAATAAA)$ . 18BR016 ENSG00000185630.19 ENSG00000201987.1(30210),ENSG00000225487.2(36776) +/+ ./+ chr1:164821626 chr1:164884542 CDS/splice-site intergenic deletion/read-through 4 7 0 318 14 medium out-of-frame . Homeobox_domain(100%),PBC_domain(100%)| . . ENSG00000185630.19 . ENST00000420696.7 . downstream upstream . ^(AAACAAAAGCAGGAGGCTGACGGGGCTGCTGGAGTTTGCAGAGACACGGAGGAGGAGAGAGCCTGTGCTTTGCCTGCCGCCGCGGCTGGGGGAGATCTGGCTTTTGCAACAGCCCACCCCCTTTGAGATCACTCTGGCCCGGAGTGGGGGTGGGGGGCAGCGGGGGGTGGGGGGGGAAAGTTTGCATTGCAATCCCCCTGCCTTCCTCTCCTTTCTCCCGATCAATGCATATTTGCAAAAGGATTAAGCCACAGATTTAAGCGCCGGGAGCCCATTTCTGCCTTGCAAAGGAGACCGGACTGAAAAACCTAAAGCCAGCTCTGATTTCTTTTCGCCAAGTGGGAAGGTGGTTTATTTTTCTTGCTTTTTGGAGTCAACACCCTTCCCCACCAGCCCTTATCCCCACCCTCACCCCGCAACCCCTTCACGCCCCCTCCCCCTCCCCCTCCTCATCCTCCCACCATCCTCTAAAGAGGCAAAGGGATTTTTTTTTTCTTTTGGTCTTCTTTTTTCCCCCTTCCCTGTTTATCCTGAAAAGGATTTGAAGACAAGCTTGAAGGATAAAAAGCCTTGGTGCTTCCCAGGAGCCGAGCCGAGGAGCAGAAGAGGAAGAGCCGGGGGCTGCCGTAGCCTTTGGAGATGGACGAGCAGCCCAGGCTGATGCATTCCCATGCTGGGGTCGGGATGGCCGGACACCCCGGCCTGTCCCAGCACTTGCAGGATGGGGCCGGAGGGACCGAGGGGGAGGGCGGGAGGAAGCAGGACATTGGAGACATTTTACAGCAAATTATGACCATCACAGACCAGAGTTTGGATGAGGCGCAGGCCAG___AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTGTTGTGTGAAATCAAAGAAAAAACAG___TTTTGAGTATCCGAGGAGCCCAGGAGGAGGAACCCACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCTGAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGTTCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATCTACCATACGGAGCTGGAGAAATACGAGCAG___GCCTGCAACGAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATGGTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGCGAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG___GCGGAAGAGACGGAATTTCAACAAGCAAGCGACAGAAATCCTGAATGAATATTTCTATTCCCATCTCAGCAACCCTTACCCCAGTGAGGAAGCCAAAGAGGAGTTAGCCAAGAAGTGTGGCATCACAGTCTCCCAG___GTATCAAACTGGTTTGGAAATAAGCGAATCCGGTACAAGAAGAACATAGGTAAATTTCAAGAGGAAGCCAATATTTATGCTGCCAAAACAGCTGTCACTGCTACCAATGTGTCAGCCCATGGAAGCCAAGCTAACTCGCCCTCAACTCCCAACTCGGCTG___GTTCTTCCAGTTCTTTTAACATGTCAAACTCTGGAGATTTGTTCATGAGCGTGCAGTCACTCAATGGGGATTCTTACCAAGGGGCCCAG)GTTGGAGCCAACGTGCAATCACAG___GTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGT|GAAATTGCAAGAACCTATTGATGGCTTGGATGCTCTGGTGGTGACAGCAAGTCCTCTTCTCTTGACTGAAGAAATGTCTTCCCCTATCTGAAAAGTGGCCTCTCTTCCGGAATGACACATACTGACTTTTGAAGAAGCAAAAGGATACCTGCTGGCCAGTC MDEQPRLMHSHAGVGMAGHPGLSQHLQDGAGGTEGEGGRKQDIGDILQQIMTITDQSLDEAQARKHALNCHRMKPALFNVLCEIKEKTVLSIRGAQEEEPTDPQLMRLDNMLLAEGVAGPEKGGGSAAAAAAAAASGGAGSDNSVEHSDYRAKLSQIRQIYHTELEKYEQACNEFTTHVMNLLREQSRTRPISPKEIERMVSIIHRKFSSIQMQLKQSTCEAVMILRSRFLDARRKRRNFNKQATEILNEYFYSHLSNPYPSEEAKEELAKKCGITVSQVSNWFGNKRIRYKKNIGKFQEEANIYAAKTAVTATNVSAHGSQANSPSTPNSAGSSSSFNMSNSGDLFMSVQSLNGDSYQGAQVGANVQSQVDTLRHVISQTGGYSDGLAASQMYSPQGIS|eiarty* 18BR016 ENSG00000230510.6 ENSG00000182013.18(9877),ENSG00000204851.7(9751) -/- ./- chr19:46525663 chr19:46481440 CDS/splice-site intergenic deletion/read-through 2 1 0 6 7 medium out-of-frame . . . . ENSG00000230510.6 . ENST00000414155.5 . upstream downstream . ^(ATCCCTCCGCGCCCCGCTCCACACCTACGGGCCCGCGAATCTCTCGTCCCCACCCTGCACAGGAATTGGGTTTGCCGCCGGGCGCGCGCGCGCTCGCTCCCGTCGCCGGACTACTTTCCCTCGCCGCGCGCCCCGCCTCCCGGGCCCACTTCACTTTCTTCGGCGGAGGGGCACAGCTCGGCGGTGCGTGACGCGTCCCTCTGTGAGCCGCGTCACTATTGGGCCTGGCCCATGGCGGAAATGAGAGCTTGGCGCCCATTGGTCCGACCTTCCCTGCAATGCGTCAAACTGGGGCGAGCCACTGCAAGGTGGTGGTGG___GTGGTCAAGGTGAAGCCCCACGACAAGGATGCCAAAATGAAATACCAGGAGTGCAACAAGATCGTGAAGCAGAAGGCCTTTGAGCGGGCCATCGCAGGCGACGAGCACAAGCGCTCCGTGGTGGACTCGCTGGACATCGAGAGCATGA___)CCATCGAGGGTGAGTACAGCGGACCCAAGCTTGAGGACGACAAAGTGACAATCACCTTCATGAAGGGGCTCATGCAGTGGTACAAGGACCAGAAGAAACTGCACCAGAAATGCGCCTACCAG|GATTTCAGACAAAAATCAGGAATCATCACCAGCCAAGACTGTGTTCAGACCACGTGACGTCTTCCAGGCACCAGGAAGAAATACGACCAACCTCCGTAACAAATGAGAGAAACTTCAC MAEMRAWRPLVRPSLQCVKLGRATARWWWVVKVKPHDKDAKMKYQECNKIVKQKAFERAIAGDEHKRSVVDSLDIESMTIEGEYSGPKLEDDKVTITFMKGLMQWYKDQKKLHQKCAYQ|dfrqksgiitsqdcvqtt* 18BR016 ENSG00000278621.1 ENSG00000259345.7 -/- -/- chr15:39588397 chr15:39071608 exon exon/splice-site deletion 0 2 0 114 7 medium . . . . . ENSG00000278621.1 ENSG00000259345.7 ENST00000616754.1 ENST00000561058.5 upstream downstream . ^(CAGTGTAAGATATTATAGGGTATAGGGAACCGATAACTTGTTGGGATTATGTTGTCCACCTGCATCTTAGAGCAATCAAATCGCTCAGGACTAACCAAGCTGGAATCTCCTCGAATGCTGACTGCAGCATTCAGTAAAAGAGCAAAGCTCCTGGGTCGTTTCATCCTGGGCTGCGTGGCTCACCAATTGGACAGTCCTGCTTGTTGCAGATCTGGTTTTCTGTTACATCACCAACGCAGTCCTTGCCTCCAAACTGGGGTGTGGGGTTGTTGCAGAGACGACTACGTTTCTGTACCCCTCCTCCACAGGTGACAGAACAGATGTCCCATGGTGACCAAGGACCCCAGCCTCCATTGACTGTAAGAAGATGAACCACAGG)CAACAATTAAGATCAACTTTCAAATCCCTCCCTTGTCATAGACTCTCCTAAGCCCGTTCAAGAAACCTCTGCTTCTCTGACACATGGAAAGAATGCTGGGGAAGAGG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG(___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 18BR016 ENSG00000230510.6 ENSG00000204850.4(6839),ENSG00000230510.6(15338) -/- ./- chr19:46525663 chr19:46503341 CDS/splice-site intergenic deletion/read-through 1 1 0 6 2 medium out-of-frame . . . . ENSG00000230510.6 . ENST00000414155.5 . upstream downstream . ^(ATCCCTCCGCGCCCCGCTCCACACCTACGGGCCCGCGAATCTCTCGTCCCCACCCTGCACAGGAATTGGGTTTGCCGCCGGGCGCGCGCGCGCTCGCTCCCGTCGCCGGACTACTTTCCCTCGCCGCGCGCCCCGCCTCCCGGGCCCACTTCACTTTCTTCGGCGGAGGGGCACAGCTCGGCGGTGCGTGACGCGTCCCTCTGTGAGCCGCGTCACTATTGGGCCTGGCCCATGGCGGAAATGAGAGCTTGGCGCCCATTGGTCCGACCTTCCCTGCAATGCGTCAAACTGGGGCGAGCCACTGCAAGGTGGTGGTGG___GTGGTCAAGGTGAAGCCCCACGACAAGGATGCCAAAATGAAATACCAGGAGTGCAACAAGATCGTGAAGCAGAAGGCCTTTGAGCGGGCCATCGCAGGCGACGAGCACAAGCGCTCCGTGGTGGACTCGCTGGACATC)GAGAGCATGA___CCATCGAGGGTGAGTACAGCGGACCCAAGCTTGAGGACGACAAAGTGACAATCACCTTCATGAAGGGGCTCATGCAGTGGTACAAGGACCAGAAGAAACTGCACCAGAAATGCGCCTACCAG|AGATGGGGTCTCCTTATGTTGTCCAGGCTGGTCTCGAACTCCTGGGCTCAGGCAATCCTCCTGTCTTGGTCTCCCAAAGTACTGGGATAACAG___GATTTCAGACAAAAATCAGGAATCATCACCAGCCAAGACTGTGTTCA MAEMRAWRPLVRPSLQCVKLGRATARWWWVVKVKPHDKDAKMKYQECNKIVKQKAFERAIAGDEHKRSVVDSLDIESMTIEGEYSGPKLEDDKVTITFMKGLMQWYKDQKKLHQKCAYQ|rwgllmlsrlvsnswaqaillswspkvlg* 18BR017 ENSG00000134452.19 ENSG00000170525.21 +/+ +/+ chr10:5915664 chr10:6247280 intron intron deletion/read-through 46 75 2 301 162 high stop-codon . . . . ENSG00000134452.19 ENSG00000170525.21 ENST00000397269.7 . downstream upstream duplicates(16),mismatches(2) ^(GGAGCTCGCGGAGGAAGTCGGCGGGCGTCTCGGGCTCCAGGTCCCGGCCAGAGGAGGAGCTCGCTGCCGGGGGACGCTGGGCTGAGCGGCCGGCGGCGCGGGCCCGGCGGCGGCGGCAGCGGGGTCCGGGTCCGGAGCGCCACA___TGAGACGGTTTAAGCGGAAGCATCTTACTGCCATTGACTGCCAGCATTTGGCTCGGAGTCACTTGGCTGTGACCCAGCCCTTCGGTCAAAGATGGACAAACAGAGATCCGAACCATGGTCTCTATCCTAAACCGAGAACAAAAAGAGGGAGTAGGG___GTCAGGGAAGTCAAAGATGCATCCCTGAGTTCTTCCTAGCAGGCAAGCAGCCGTGCACCAATGACATGGCCAAAAGCAATTCTGTTGGCCAGGACAGCTGTCAGGACTCTGAGGGTGACATGATCTTTCCTGCAGAGAGCAGCTGTGCACTGCCTCAGGAAGGCAGTGCAGGGCCGGGCTCACCAGGGTCTGCCCCGCCCTCCAGGAAGCGGTCTTGGTCCTCTGAGGAAGAGAGTAACCAGGCTACCGGGACCAGCCGGTGGGATGGAGTTTCTAAGAAAGCTCCACGGCACCATTTGTCTGTGCCATGCACAAGGCCTAGGGAGGCCAGGCAAGAAGCAGAGGACAGTACGTCTCGGCTCTCTGCGGAGTCTGGTGAAACCGACCAAGATGCTGGGGACGTGGGTCCTGATCCCATTCCTGACTCATACTATGGGCTTCTTGGGACCTTGCCCTGCCAGGAAGCACTGAGCCACATTTGCAGCCTGCCTAGTGAGGTCCTGAGGCACGTGTTTGCCTTCCTCCCGGTGGAAGACCTCTATTGGAACCTGAGCTTGGTGTGCCACTTGTGGAGGGAGATCATCAGTGACCCGCTG___TTCATTCCTTGGAAGAAGCTGTACCATCGATACCTGATGAATGAAGAGCAAGCTGTCAGCAAAGTGGACGGCATCCTGTCTAACTGTGGCATAGAAAAGGAGTCAGACCTGTGTGTGCTGAACCTCATACG___ATACACAGCCACCACTAAGTGCTCTCCGAGTGTGGATCCCGAGAGGGTGCTGTGGAGTCTGAGGGACCACCCCCTCCTCCCCGAGGCTGAGGCGTGTGTGCGGCAACACCTCCCCGACCTCTACGCTGCTGCCGGG___GGTGTCAACATCTGGGCCCTGGTGGCGGCTGTGGTGCTCCTCTCCAGCAGTGTGAATGACATCCAGCGACTGCTCTTCTGCCTCCGGAGACCCAGCTCCACGGTGACCATGCCAGATGTCACCGAGACCCTGTACTGCATAGCCGTGCTTCTCTACGCCATGAGGGAGAAGGGGATTAACATCAGCAATAG___GATTCACTACAACATTTTCTATTGCCTATATCTTCAGGAGAATTCCTGCACTCAGGCCACAAAAGTTAAAGAGGAGCCATCTGT)CTGGCCAGG___CAAGAAAACCATCCAACTTACACATGAACAACAGCTGATTCTGAATCACAAGATGGAACCTCTCCAGGTGGTGAAAATTATGGCCTTTGCCG___GCACTGGGAAGACCTCAACGCTGGTCAAGTATGCAGAGAAGTGGTCTCAGAGCAGGTTTCTGTATGTGACATTCAACAAGAGCATCGCAAAGCAGGCCGAACGCGTCTTCCCCAGCAACGTCATCTGCAAAACCTTCCACTCCATGGCCTACGGGCACATAGGGCGGAAGTGAGTACTGCTGTCACTAGTGGCACTGTTGCTGCTGGCACGGTCGCGTCTTACTGTTTTCCCGTGAtGATCACATGTGAGCTTACACCACAG|TTATGTTTGGAGCCAAACCTTGGTCAAAAATGGAAAGGCTTTGCCTCTGACACAGCCTGATTTAATTGTTGAACAAAGCCCTCTTCTTGTGGGGAAGAAAAATGAGGACTCTAACAATTAGCCTTCTAAAATGTAGGCCTGCAAAAACAACTGGGAGGAAATAGGCAGTGACATCCATCCGCCCACTGCTTCTTGGCCAGTTCAGGCCAAGGCCAAACAAAGGAAAAATACATCCAATCGGTTCAAGAGTTCAGCTCTCCCTTCATTAAGCGAAAAGCTGAGCTCCCCTCTCCCCGCCAGCCCAGAGCCCTGTCCCATTCCACTGTGAAGGTTTATCCTCCAGACCCCTCCTAAGGAACGCC . 18BR017 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 35 0 82 85 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(5),inconsistently_clipped(1),mismappers(1) AAAAGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___...A...___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACC(ACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 18BR017 ENSG00000148429.14 ENSG00000233117.4(10984),ENSG00000224382.2(129350) -/- ./- chr10:11481770 chr10:4254896 CDS/splice-site intergenic deletion 9 11 1 163 43 high out-of-frame . Rab-GTPase-TBC_domain(100%)| . . ENSG00000148429.14 . ENST00000609104.5 . upstream downstream mismappers(1) ^(CGGCCGCTGCGGTGACGGTTGGCGGCGGCCGGTGAGGCGGGCGGGGCCGGAGGCGCGGAGGCGGGGTCCCGGGCGAGCCGCCCTGGGAGGCGGGGGCCGTTTCCATAGCGGCGGCAGGAGGTGTCGCGCCGGGGAACTTCCTGGTTCCCGGGCTCGGCTTCGCCGGGATCCTCTTGGAAGGGAAACAATGGGGCGGAGGGCACTGCGGTAGCCGCCGCCGCCGCCGCGCCGCGCCGCGCCGGATCTGCTCGGCCGCCCGGGACCGCCAGCTCTGTCCGCTGCCCACAGCCTAGCAGTCGGGACCGTACTGAG___GACATGTATTCCTCTGAGAAACCTTGGACAGCAGATTTTGGTTTAATATCTGATTGGGACAACATTCAGACCCATTTCCAGTCATGA___ATTCAGACCAGGATGTAGCACTCAAACTTGCCCAGGAGCGAGCTGAAATAGTTGCTAAATATGACAGA___GGACGAGAAGGTGCAGAGATTGAACCTTGGGAAGATGCTGATTACCTTGTTTACAAAGTCACAGATAGATTTGGCTTTTTACA___TGAGGAGGAGCTCCCAGATCATAATGTGGCTGTGGAACGG___CAAAAGCACCTGGAAATTGAAAGAACTACCAAATGGCTGAAAATGCTGAAAGGATGGGAAAAATACAAGAACACTGAAAAG___TTTCATAGGCGAATTTACAAAGGAATACCACTCCAGCTCAGAGGTGAAGTCTGGGCCCTCCTTCTTGAGATCCCTAAAATGAAAGAAGAAACAAGGGACCTGTATAGT___AAATTAAAACACAGAGCACGGGGCTGTTCACCTGACATCAGACAAATAGACCTGGATGTCAACCGCACATTTCGGGACCACATTATGTTTAGAGACAGATATGGTGTTAA___GCAACAATCCTTATTCCATGTGCTTGCTGCCTATTCTATTTATAACACG___GAAGTCGGGTATTGTCAGGGGATGAGCCAGATCACAGCTTTACTCCTCATGTATATGAACGAGGAAGATGCCTTCTGGGCCCTGGTCAAACTCTTCTCAGGCCCTAAACATGCCATGCATG___GCTTTTTTGTCCAAGGTTTTCCTAAACTCTTGAGGTTTCAAGAACATCATGAAAAAATACTGAACAAATTTCTGTCCAAGCTTAAGCAACACTTG___GATTCTCAAGAAATCTACACAAGTTTTTACACAATGAAATGGTTTTTTCAGTGTTTCCTTGATCGT___ACTCCCTTTACACTAAACCTCAGAATATGGGATATCTA)CATCTTTGAAGGAGAACGAGTTCTTACTGCTATGTCTTACACCATCTTAAAATTACACAAAA___?ACATCTAATGAAATTGTCCATGGAAGAACTTGTAGAATTTTTTCAGGAGACCCTGGCAAAGGATTTTTTCTTTGAAGATGATTTTGTGATAGAGCAACTTCAGATTTCTATGACAGAACTAAAGCGGGCAAAGTTAGACCTTCCAGAACCTG|ATCTTACGTCATGCTCATCCTGGAGAGTGGGAAGAGGAGGCCCTTCTCATGTTACTTTGTTGTGTCATCACTTATAAGATTAGAACTTGCCATCATTGCTTAAACATTCAACCACTAGCTTTAAACACTTTAAGCTAAGTTAAAAAAAAA...AGGCTGACAATGAAGTCATTACTAAGCTCCAGAATTTTCCCTGTTGTGGGATCAAGCTGGGACCTCAGGCCAGGAGGAAGGACTCACTGATTCGAGTTTCTGTGTGTCCCATTTGACCGCCTGGCTTCATGAAGACCAGACAGCGGGAG MNSDQDVALKLAQERAEIVAKYDRGREGAEIEPWEDADYLVYKVTDRFGFLHEEELPDHNVAVERQKHLEIERTTKWLKMLKGWEKYKNTEKFHRRIYKGIPLQLRGEVWALLLEIPKMKEETRDLYSKLKHRARGCSPDIRQIDLDVNRTFRDHIMFRDRYGVKQQSLFHVLAAYSIYNTEVGYCQGMSQITALLLMYMNEEDAFWALVKLFSGPKHAMHGFFVQGFPKLLRFQEHHEKILNKFLSKLKQHLDSQEIYTSFYTMKWFFQCFLDRTPFTLNLRIWDIYIFEGERVLTAMSYTILKLHK?HLMKLSMEELVEFFQETLAKDFFFEDDFVIEQLQISMTELKRAKLDLPEP|dltscsswrvgrggpshvtllchhl* 18BR017 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 9 12 0 27 37 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(1),mismatches(1) GCGTCCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGAC(CTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 18BR017 ENSG00000130702.15 ENSG00000130702.15 -/- -/+ chr20:62345818 chr20:62341705 CDS/splice-site intron inversion/5'-5' 15 6 0 207 62 high out-of-frame . Laminin_EGF_domain(100%),Laminin_N-terminal_(Domain_VI)(100%)| . . ENSG00000130702.15 ENSG00000130702.15 ENST00000252999.7 . upstream upstream duplicates(2) ^(AGACCCGCCGGGCTCCCGCCGCGCGCGCTGTCCCTGGAGCTCGGGGACGCGGCCCGGAGCCGGGAAGATGGCGAAGCGGCTCTGCGCGGGGAGCGCACTGTGTGTTCGCGGCCCCCGGGGCCCCGCGCCGCTGCTGCTGGTCGGGCTGGCGCTGCTGGGCGCGGCGCGGGCGCGGGAGGAGGCGGGCGGCGGCTTCAGCCTGCACCCGCCCTACTTCAACCTGGCCGAGGGCGCCCGCATCGCCGCCTCCGCGACCTGCGGAGAGGAGGCCCCGGCGCGCGGCTCCCCGCGCCCCACCGAGGACCTTTACTGCAAGCTGGTAGGGGGCCCCGTGGCCGGCGGCGACCCCAACCAGACCATCCGG___GGCCAGTACTGTGACATCTGCACGGCTGCCAACAGCAACAAGGCACACCCCGCGAGCAATGCCATCGATGGCACGGAGCGCTGGTGGCAGAGTCCACCGCTGTCCCGCGGCCTGGAGTACAACGAGGTCAACGTCACCCTGGACCTGGGCCAG___GTCTTCCACGTGGCCTACGTCCTCATCAAGTTTGCCAACTCACCCCGGCCGGACCTCTGGGTGCTGGAGCGGTCCATGGACTTCGGCCGCACCTACCAGCCCTGGCAGTTCTTTGCCT___CCTCCAAGAGGGACTGTCTGGAGCGGTTCGGGCCACAGACGCTGGAGCGCATCACACGGGACGACGCGGCCATCTGCACCACCGAGTACTCACGCATCGTGCCCCTGGAGAACGGAGAG___ATCGTGGTGTCCCTGGTGAACGGACGTCCGGGCGCCATGAATTTCTCCTACTCGCCGCTGCTACGTGAGTTCACCAAGGCCACCAACGTCCGCCTGCGCTTCCTGCGTACCAACACGCTGCTGGGCCATCTCATGGGGAAGGCGCTGCGGGACCCCACGGTCACCCGCCGG___TATTATTACAGCATCAAGGATATCAGCATCGGAGGCCGCTGTGTCTGCCACGGCCACGCGGATGCCTGCGATGCCAAAGACCCCACGGACCCGTTCAG___GCTGCAGTGCACCTGCCAGCACAACACCTGCGGGGGCACCTGCGACCGCTGCTGCCCCGGCTTCAATCAGCAGCCGTGGAAGCCTGCGACTGCCAACAGTGCCAACGAGTGCCAGT___CCTGTAACTGCTACGGCCATGCCACCGACTGTTACTACGACCCTGAGGTGGACCGGCGCCGCGCCAGCCAGAGCCTGGATGGCACCTATCAGGGTGGGGGTGTCTGTATCGACTGCCAG___CACCACACCACCGGCGTCAACTGTGAGCGCTGCCTGCCCGGCTTCTACCGCTCTCCCAACC)ACCCTCTCGACTCGCCCCACGTCTGCCGCC___GCTGCAACTGCGAGTCCGACTTCACGGATGGCACCTGCGAGGACCTGACGGGTCGATGCTACTGCCGGCCCAACTTCTCTGGGGAGCGGTGTGACGTGTGTGCCGAGGGCTTCACGGGCTTCCCAAGCTGCTACC___CGACGCCCTCGTCCTCCAATGACACCAGGGAGCAGGTGCTGCCAGCtGGCCAGATTGTGA|AAAGGAAAATCTCTCCTCCCAACTAAAGAAAGAAAAACCTCAGCAGGTCTTATCAAGAGAACTGCACCTGTACTTCGAACAGACCAATAAACTCAACGAACCTCTGTTAGGTCTGATCAACCAAAAAAAAAAgAAgAAgAAA MAKRLCAGSALCVRGPRGPAPLLLVGLALLGAARAREEAGGGFSLHPPYFNLAEGARIAASATCGEEAPARGSPRPTEDLYCKLVGGPVAGGDPNQTIRGQYCDICTAANSNKAHPASNAIDGTERWWQSPPLSRGLEYNEVNVTLDLGQVFHVAYVLIKFANSPRPDLWVLERSMDFGRTYQPWQFFASSKRDCLERFGPQTLERITRDDAAICTTEYSRIVPLENGEIVVSLVNGRPGAMNFSYSPLLREFTKATNVRLRFLRTNTLLGHLMGKALRDPTVTRRYYYSIKDISIGGRCVCHGHADACDAKDPTDPFRLQCTCQHNTCGGTCDRCCPGFNQQPWKPATANSANECQSCNCYGHATDCYYDPEVDRRRASQSLDGTYQGGGVCIDCQHHTTGVNCERCLPGFYRSPNHPLDSPHVCRRCNCESDFTDGTCEDLTGRCYCRPNFSGERCDVCAEGFTGFPSCYPTPSSSNDTREQVLPAGQIV|krkisppn* 18BR017 ENSG00000134452.19 ENSG00000064787.13(39824),ENSG00000019186.10(43028) +/+ ./+ chr10:5918478 chr20:54110418 CDS/splice-site intergenic translocation 13 5 2 936 35 high out-of-frame . . . . ENSG00000134452.19 . ENST00000397269.7 . downstream upstream . ^(GGAGCTCGCGGAGGAAGTCGGCGGGCGTCTCGGGCTCCAGGTCCCGGCCAGAGGAGGAGCTCGCTGCCGGGGGACGCTGGGCTGAGCGGCCGGCGGCGCGGGCCCGGCGGCGGCGGCAGCGGGGTCCGGGTCCGGAGCGCCACA___TGAGACGGTTTAAGCGGAAGCATCTTACTGCCATTGACTGCCAGCATTTGGCTCGGAGTCACTTGGCTGTGACCCAGCCCTTCGGTCAAAGATGGACAAACAGAGATCCGAACCATGGTCTCTATCCTAAACCGAGAACAAAAAGAGGGAGTAGGG___GTCAGGGAAGTCAAAGATGCATCCCTGAGTTCTTCCTAGCAGGCAAGCAGCCGTGCACCAATGACATGGCCAAAAGCAATTCTGTTGGCCAGGACAGCTGTCAGGACTCTGAGGGTGACATGATCTTTCCTGCAGAGAGCAGCTGTGCACTGCCTCAGGAAGGCAGTGCAGGGCCGGGCTCACCAGGGTCTGCCCCGCCCTCCAGGAAGCGGTCTTGGTCCTCTGAGGAAGAGAGTAACCAGGCTACCGGGACCAGCCGGTGGGATGGAGTTTCTAAGAAAGCTCCACGGCACCATTTGTCTGTGCCATGCACAAGGCCTAGGGAGGCCAGGCAAGAAGCAGAGGACAGTACGTCTCGGCTCTCTGCGGAGTCTGGTGAAACCGACCAAGATGCTGGGGACGTGGGTCCTGATCCCATTCCTGACTCATACTATGGGCTTCTTGGGACCTTGCCCTGCCAGGAAGCACTGAGCCACATTTGCAGCCTGCCTAGTGAGGTCCTGAGGCACGTGTTTGCCTTCCTCCCGGTGGAAGACCTCTATTGGAACCTGAGCTTGGTGTGCCACTTGTGGAGGGAGATCATCAGTGACCCGCTG___TTCATTCCTTGGAAGAAGCTGTACCATCGATACCTGATGAATGAAGAGCAAGCTGTCAGCAAAGTGGACGGCATCCTGTCTAACTGTGGCATAGAAAAGGAGTCAGACCTGTGTGTGCTGAACCTCATACG___ATACACAGCCACCACTAAGTGCTCTCCGAGTGTGGATCCCGAGAGGGTGCTGTGGAGTCTGAGGGACCACCCCCTCCTCCCCGAGGCTGAGGCGTGTGTGCGGCAACACCTCCCCGACCTCTACGCTGCTGCCGGG___GGTGTCAACATCTGGGCCCTGGTGGCGGCTGTGGTGCTCCTCTCCAGCAGTGTGAATGACATCCAGCGACTGCTCTTCTGCCTCCGGAGACCCAGCTCCACGGTGACCATGCCAGATGTCACCGAGACCCTGTACTGCATAGCCGTGCTTCTCTACGCCATGAGGGAGAAGGGGATTAACATCAGCAATAG___GATTCACTACAACATTTTCTATTGCCTATATCTTCAGGAGAATTCCTGCACTCAGGCCACAAAAGTTAAAGAGGAGCCATCTGTCTGGCCAGG___CAAGAAAACCATCCAACTTACACATGAACAACAGCTGATTCTGAATCACAAGATGGAACCTCTCCAGGTGGTGAAAATTATGGCCTTTGCCG___GCACTGGGAAGACCTCAACGCTGGTCAAGTATGCAGAGAAGTGGTCTCAGAGCAGGTTTCTGTATGTGACATTCAACAAGAGCATCGCAAAGCAGGCCGAACGCGTCTTCCCCAGCAACGTCATCTGCAAAACCTTCCACTCCATGGCCTACGGGCACATAGGGCGGAA___GTACCAGTCAAAGAAGAAGTTGAATCTCTTCAAGTTAACACCCTTCATGGTCAACTCCGTCCTTGCTGAAGGGAAGGGTGGATTCATAAGAGCCAAGCTTGTGTGTAAGACTCTAGAAAACTTCTTTGCCTCGGCTGACGAAGAGCTGACCATTGATCACGTGCCTATTTGGTGTAAGAACAGCCAAGGACAGAGAGTCATGGTTGAGCAGAGTGAAAAACTG___AATGGTGTCCTTGAAGCGAGCCGCCTCTG)GGATAACATGCGGAAGCTGGGGGAGTGCACAGAAGAGGCGCACCAGATGACTCATGACG___GCTACTTGAAACTCTGGCAGCTGAGCAAGCCTTCGCTGGCCTCTTTTGACGCCATCTTTGTGGATGAGGCCCAGGACTGCACACCAG___CTATCATGAACATAGTTCTGTCTCAGCCATGTGGGAAAATCTTTGTAGGGGACCCGCACCAGCAGATCTATACCTTCCGGGGTGCGGTCAACGCCCTGTTCACAGTGCCCCACACCCACGTCTTCTATCTCACGCAG|CTGAGCCTTGATTCCATCATGATCGAGGGATTCCACCAAATTCACTATTTGAGAAGCCCTGTGGTGTGATGCATATCAGGGTATATGCCCCAGGAAGGTGAGTTT...___...ATAATCAACGTTGCTG...___GCGTATCCTCAAATGAAGCCTTG MAKSNSVGQDSCQDSEGDMIFPAESSCALPQEGSAGPGSPGSAPPSRKRSWSSEEESNQATGTSRWDGVSKKAPRHHLSVPCTRPREARQEAEDSTSRLSAESGETDQDAGDVGPDPIPDSYYGLLGTLPCQEALSHICSLPSEVLRHVFAFLPVEDLYWNLSLVCHLWREIISDPLFIPWKKLYHRYLMNEEQAVSKVDGILSNCGIEKESDLCVLNLIRYTATTKCSPSVDPERVLWSLRDHPLLPEAEACVRQHLPDLYAAAGGVNIWALVAAVVLLSSSVNDIQRLLFCLRRPSSTVTMPDVTETLYCIAVLLYAMREKGINISNRIHYNIFYCLYLQENSCTQATKVKEEPSVWPGKKTIQLTHEQQLILNHKMEPLQVVKIMAFAGTGKTSTLVKYAEKWSQSRFLYVTFNKSIAKQAERVFPSNVICKTFHSMAYGHIGRKYQSKKKLNLFKLTPFMVNSVLAEGKGGFIRAKLVCKTLENFFASADEELTIDHVPIWCKNSQGQRVMVEQSEKLNGVLEASRLWDNMRKLGECTEEAHQMTHDGYLKLWQLSKPSLASFDAIFVDEAQDCTPAIMNIVLSQPCGKIFVGDPHQQIYTFRGAVNALFTVPHTHVFYLTQ|lsldsimiegfhqihylrspvv* 18BR017 ENSG00000162105.19 ENSG00000186895.4 -/- -/- chr11:70698688 chr11:69816423 CDS/splice-site CDS/splice-site deletion 8 10 0 45 17 high out-of-frame . Ankyrin_repeats_(3_copies)(100%),N-terminal_or_F0_domain_of_Talin-head_FERM(100%),Variant_SH3_domain(100%)|Fibroblast_growth_factor(100%) . . ENSG00000162105.19 ENSG00000186895.4 ENST00000601538.5 ENST00000334134.4 upstream downstream duplicates(1),mismappers(3) ^(CTCTAGAATACAGACAGTTCCTGCTCTAAGAGGCCATCTGTGAGGCTCAGTCTCCCAACACCTCTG___ACACAGGCAGCCATGCCGCGCAGCCCAACATCCAGCGAGGACGAGATGGCCCAGAGCTTCTCCGACTACTCCGTGGGGTCGGAGTCAGACAGCTCCAAAGAAGAGACCATCTATGACACGATCCGGGCCACTGCGGAGAAGCCGGGCGGTGCCAGGACGGAGGAGAGCCAGGGCAACACGCTGGTGATCCGCGTGGTCATCCATGACCTGCAGCAGACG___AAATGCATTCGATTTAACCCGGATGCCACAGTGTGGGTTGCAAAGCAGCGGATCCTGTGTACATTAACCCAGAGTTTGAAAGATGTCCTGAACTACGGCCTGTTCCAGCCGGCCAGCAATGGGCGTGACGGCAAGTTCCTGGATGAGGAGCGGCTCCTGCGCGAGTACCCACAGCCCGTGGGTGAGGGCGTTCCTTCCCTGGAG___TTTCGATACAAGAAGCGGGTGTATAAACAAGCCAGTCTCGATGAGAAACAGTTGGCCAAGCTCCACACGAAG___ACCAATCTGAAGAAATGCATGGATCACATTCAGCATCGCTTGGTGGAGAAGATCACCAAGATGCTGGACCGAGGCCTGGATCCCAATTTCCACGACCCGGAGACCGGAG___AGACCCCCCTGACCTTAGCCGCTCAGCTGGACGACTCTGTGGAGGTCATCAAAGCTCTCAAAAATGGTGGAGCTCACCTGGACTTCCGTGCCAAAGATGGGATGACCGCCCTACACAAAGCTGCCCGAGCGAGGAACCAAGTTGCCCTGAAG___ACCCTTTTAGAGCTTGGTGCATCCCCAGATTATAAAGACAGTTACGGCCTCACCCCGCTGTATCACACAGCCATCGTCGGAGGTGATCCCTACTGCTGCGAGCTTCTCCTGCACGAACACGCCACTGTGTGCTGCAAAGATGAGAACGGCTGGCACGAGATCCACCAG___GCCTGCAGGTACGGGCACGTGCAGCACCTGGAGCACCTGCTGTTCTACGGGGCAGACATGAGTGCCCAGAATGCCTCGGGGAACACGGCCTTGCACATCTGCGCCCTCTACAACCAG___GACAGCTGTGCAAGAGTGCTTCTGTTTCGAGGCGGAAATAAGGAGTTAAAAAACTACAACAGCCAGACTCCATTTCAG___GTGGCCATAATAGCAGGCAACTTTGAGCTGGCAGAATACATCAAGAACCACAAGGAAACAGACATTG___TGCCCTTCCGAGAGGCCCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGCTCCAACAGTGACAACAACCTCAATGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACCTCGCACCGCAGCCTGTCACCCCAGCTGCTGCAGCAGATGCCCAGCAAGCCCGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAACAGGCTGGGCGGCGCAGGCGAGGACGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGG___GTCGCCTTTTGCTCTTGGTGCCAACAAGGACTCACTCTCGGCCTTCGAGTACCCGGGGCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCCCAAGTGGACGGCGAGATCCCCCTTCACCGCGGTGA)CAGGGTCAAAG___TTCTGAGCATCGGTGAAGGGGGCTTCTGGGAAGGCAGCGCCCGCGGCCACATCGGATGGTTTCCGGCGGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAG___AAACCCGCGCTGACCGCAGCAAGAAGCTTTTCAGGCACTACACCGTGGGCTCCTATGACAGCTTCGACACTTCCAG|GTATTTTGGAGATAACGGCAGTGGAGGTGGGCATTGTGGCCATCAGGGGTCTCTTCTCCGGGCGGTACCTGGCCATGAACAAGAGGGGACGACTCTATGCTTCG___GAGCACTACAGCGCCGAGTGCGAGTTTGTGGAGCGGATCCACGAGCTGGGCTATAATACGTATGCCTCCCGGCTGTACCGGACGGTGTCTAGTACGCCTGGGGCCCGCCGGCAGCCCAGCGCCGAGAGACTGTGGTACGTGTCTGTGAACGGCAAGGGCC(GGCCCCGCAGGGGCTTCAAGACCCGCCGCACACAGAAGTCCTCCCTGTTCCTGCCCCGCGTGCTGGACCACAGGGACCACGAGATGGTGCGGCAGCTACAGAGTGGGCTGCCCAGACCCCCTGGTAAGGGGGTCCAGCCCCGACGGCGGCGGCAGAAGCAGAGCCCGGATAACCTGGAGCCCTCTCACGTTCAGGCTTCGAGACTGGGCTCCCAGCTGGAGGCCAGTGCGCACTAGCTGGGCCTGGTGGCCACCGCCAGAGCTCCTGGCGACATCTTGGCGTGGCAGCCTCTTGACTCTGACTCTCCTCCTTGAGCCCTTGCCCCTGCGTCCCGCGTCTGGGTTCTCAGCTATTTCCAGAGCCAGCTCAAATCAGGGTCCAGTGGGAACTGAAGAGGGCCCAAGTCGGAGCTCGGAGGGGGCTGCCTGCAATGCAGGGCATTTGTGGGTCTGTGTGGCAGGAAGCCGGCAGGGAAGGGCCTGAGTGCCAGCCCTGGCAGACTGAGGAGCCTCCCAGGAGCAGCGGGGCAGTGTGGGGCTTTGTGTCATCACAACATTAAAGTATTTTATTCTA)$ MPRSPTSSEDEMAQSFSDYSVGSESDSSKEETIYDTIRATAEKPGGARTEESQGNTLVIRVVIHDLQQTKCIRFNPDATVWVAKQRILCTLTQSLKDVLNYGLFQPASNGRDGKFLDEERLLREYPQPVGEGVPSLEFRYKKRVYKQASLDEKQLAKLHTKTNLKKCMDHIQHRLVEKITKMLDRGLDPNFHDPETGETPLTLAAQLDDSVEVIKALKNGGAHLDFRAKDGMTALHKAARARNQVALKTLLELGASPDYKDSYGLTPLYHTAIVGGDPYCCELLLHEHATVCCKDENGWHEIHQACRYGHVQHLEHLLFYGADMSAQNASGNTALHICALYNQDSCARVLLFRGGNKELKNYNSQTPFQVAIIAGNFELAEYIKNHKETDIVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQLLQQMPSKPEGAAKTIGSYVPGPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQPQVDGEIPLHRGDRVKVLSIGEGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSr|yfgdngsggghcghqgsllravpgheqegttlcfgalqrrvrvcgadpragl* 18BR017 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 8 7 0 118 58 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTC)AGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTTCTTCCTAGTTTTTTCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 18BR017 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 5 9 0 64 26 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGT)GGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 18BR017 ENSG00000124164.16 ENSG00000286309.1(52957),ENSG00000233686.3(10553) +/+ ./- chr20:58389517 chr20:59450066 CDS/splice-site intergenic inversion 5 5 1 133 26 high out-of-frame . MSP_(Major_sperm_protein)_domain(100%)| . . ENSG00000124164.16 . ENST00000475243.6 . downstream downstream duplicates(2) ^(GCGTGCCGTCAGCTCGCCGGGCACCGCGGCCTCGCCCTCGCCCTCCGCCCCTGCGCCTGCACCGCGTAGACCGACCCCCCCCCAGCGCGCCCACCCGGTAGAGGACCC)CCGCCCGTGCCCCGACCGGTCCCCGCCTTTTTGTAAAACTTAAAGCGGGCGCAGCATTAACGCTTCCCGCCCCGGTGACCTCTCAGGGGTCTCCCCGCCAAAGGTGCTCCGCCGCTAAGGAACATGGCGAAGGTGGAGCAGGTCCTGAGCCTCGAGCCGCAGCACGAGCTCAAATTCCGAG|CGCTGTGCTGTGAGCTCTGAGAAGGTCAAGGTGTCTCCCTCACAGCCACATCCCTGGAACTCAGCAAGGACTTGACACGCAGTAGATGCTCAACACATGTCAGCTTCTAG___GTGGCTCCTGAGAGCATTTCTTCTTAAACAAGAATCCCTGGCTCCTACTCTACTCCCAGGGACACTGAAtCCTAAGGCGAACTCAGTGGCTCACCCAGGTTATCATTCACCCACAAGCACCTCACACTTGGCCGGCTTGGAGAACTTGGAGGACAGGTAGGCATCTCAACAGCATTGAATGAGTGGGTCATGTTGTCAACAGCGTGGGATGAGTGGGTCATGCTGTCTTGTTCATGCTCTGAGCTCTGCCCTCACCTCACACAAATAATGAGTGAC MAKVEQVLSLEPQHELKFR|alccel* 18BR017 ENSG00000155363.18 ENSG00000173848.19(37286),ENSG00000178372.8(2355) +/+ ./+ chr1:112675049 chr10:5496342 CDS/splice-site intergenic translocation 5 4 0 66 42 high out-of-frame . . . . ENSG00000155363.18 . ENST00000369645.5 . downstream upstream duplicates(1) ^(GCTTTTCACTGAGTCCCGAGGCTCTGGAGGGTGGGCGTGAGGGTAGCCCTGGCTGAGGCTCGGAGGTCCTCCCGGGCTGTTCAGAGGGCCCCAAGCGGTAGCCACGTTCTGATACTGGCTAGAAGCCAGGGGAGGGAGCTTGGGGTAAGGGGAGGGCCCTGAGGGAGGGGTCAGACGCTTTAGGAAAGAGTTAATGCGAAGAGGGGGAGGGGATAGGACGAAGAAACCGAAG)GGAAAGCTCAG___CTGCAGCGGCGACTTTCAGTTTCATTTCCACGGACCCTCCTGCCTGGGCCGCAGCCGCCGCCGCGATGCCCAGTAAGTTCAGCTGCCGGCAGCTCCGGGAGGCGGGCCAGTGTTTCGAGAGTTTCCTGGTCGTTCGGGGACTGGACATGGAGACAGATCGCGAGCGGCTGCGGACCATTTATAACCGCGACTTCAAGATCAG|ACCCTGGAAAACCTCTTCTTGACCAGCTCAGCACTGAGGACTCATCACTTCAGAAATCAGACCTCTGTGATCCGCGTGCCTAAGAGGATGGGGCTTTCCTGGAGGACCTCCGGGCAGAGCCAGGATGGGCATAGACTTTGCCGCAGGCCTCCTGCTCAGTCAGGTGAGCAGGCAGGTCTCAGGCTGCCTCTGCTCTGTTACCCTCTCACCTCCTTATCTTCTCTCTTCCACCCGCTCTGCAGCCCTTCCT MPSKFSCRQLREAGQCFESFLVVRGLDMETDRERLRTIYNRDFKIr|pwktss* 18BR017 ENSG00000108510.10 ENSG00000136444.10(15953),ENSG00000249451.1(1485) -/- ./+ chr17:62063067 chr17:50501927 CDS/splice-site intergenic inversion 3 5 0 98 40 high out-of-frame . Mediator_complex_subunit_13_N-terminal(100%)| . . ENSG00000108510.10 . ENST00000397786.7 . upstream upstream duplicates(2),mismatches(1) ^(CTCTCTCTGGTCGGAGGCGGCGGTAATGGCGGATGGTGGGTTGTGGCGCCGGCGGCGGCTGCTGTGAGGGACGATGAGTGCCTCCTTCGTGCCGAACGGGGCCAGCCTGGAAGATTGTCACTGTAACCTCTTCTGCCTG___GCTGACTTGACAGGA)ATTAAGTcGAAAAAATATGTATGGCAAGGCCCAACTTCTGCCCCTATTCTGTTTCCTcTGACAGAAGAAGACCCCATTTTGAGCAGTTTTAGTCGCTGCCTTAAGGCAGATGTACTTGGTGTTTGGCGGCGAGATCAAAGACCTGGAAGAAGAGAATTGTGGATATTTTGGTGGGGTGAAGACCCCAGTTTTGCTGACCTTATTCACCATGACTTATCAG|CCTCTGGAGGTCAGAAGTCTGAAATGGTCCAGGTGTCTGCAGAGCTGTGTTCCTTGTGGAGGCTCTAGGAGAGAATCTGCCTCTTGCCTTTTCCAGCTTCTTAAGGC MSASFVPNGASLEDCHCNLFCLADLTGIKsKKYVWQGPTSAPILFPlTEEDPILSSFSRCLKADVLGVWRRDQRPGRRELWIFWWGEDPSFADLIHHDLS|asggqksemvqvsaelcslwrl* 18BR017 ENSG00000029725.17 ENSG00000278212.2(65515),ENSG00000258567.1(26377) +/+ ./- chr17:5363016 chrY:11280541 CDS/splice-site intergenic translocation 5 3 0 215 11 high out-of-frame . Rabaptin(100%),Rabaptin-like_protein(100%)| . . ENSG00000029725.17 . ENST00000537505.6 . downstream downstream duplicates(1) ^(GTCAGGATGAGGAGGCGGAGGTCGGCGGTCGGGTCCGTCTCTGCCCGCGGCTGTGGCGGCGCCGGCGGATCCAGCCTTAGCGGTTTCTCTCTGGGCGGCGGCGGCGGCGGCTCGGTTGACGCCTCCTCCGCCAGCTGAGCCCGCGGGAGCCCAGGACGCCGCTTCCCCGCCCATCCCCGCTCCCCGAGGCCGGCCGCCTGGTCATGGCGCAGCCGGGCCCGGCTTCCCAGCCTGACG___TTTCTCTTCAGCAACGGGTAGCAGAATTGGAAAAAATTAATGCAGAATTTTTACGTGCACAACAGCAGCTTGAACAAGAATTTAATCAAAAGAGAGCAAAATTTAAGGAGTTATATTTGGCTAAAGAGG___AGGATCTGAAGAGGCAAAATGCAGTATTACAAGCTGCACAAGATGATTTGGGACACCTTCGAACCCAGCTGTGGGAAGCTCAAGCAGAGATGGAGAATATTAAGGCGATTGCCACAGTCTCTGAGAACACCAAGCAAGAAGCTATAGATGAAGTGAAAAGACAGTGGAGAGAAGAAGTTGCTTCACTTCAGGCTGTTATGAAAG___AAACAGTTCGTGACTATGAGCACCAGTTCCACCTTAGGCTGGAGCAGGAGCGAACACAGTGGGCACAGTATAGAGAATCCGCAGAGAGGGAAATAGCTGATTTAAGAAGAAGGCTGTCTGAAGGTCAAGAGGAGGAAAATTTAGAAAATGAAATGAAAAAG___GCCCAAGAGGATGCTGAGAAACTTCGGTCCGTTGTGATGCCAATGGAAAAGGAAATTGCAGCTTTGAAGGATAAACTGACAGAGGCTGAAGACAAAATTAAAGAGCTGGAGGCCTCAAAG___GTTAAAGAACTGAATCATTATCTGGAAGCTGAGAAATCTTGTAGGACTGATCTAGAGATGTATGTAGCTGTTTTGAATACTCAGAAATCTGTTCTACAGGAAGATGCTGAGAAACTGCGGAAAGAATTGCATGAAG___TTTGCCATCTCTTGGAGCAAGAGCGACAACAACACAACCAGTTAAAACATACGTGGCAGAAGGCCAATGACCAGTTTCTGGAATCTCAGCGTTTACTGATGAGAGACATGCAGCGAATGGAGATTGTGCTAACTTCAGAACAGCTCCGACAAGTTGAAGAACTGAAGAAGAAAGATCAG___GAGGATGATGAACAACAAAGACTCAATAAGAGAAAGGATCACAAAAAAGCAGATGTTGAGGAAGAAATAAAAATACCAGTAGTGTGTGCTTTAACTCAAGAAGAATCTTCAGCCCAGTTATCAAATGAAGAG___GAGCATTTAGACAGCACCCGTGGCTCAGTTCATTCCTTAGATGCAGGCTTGCTGTTGCCATCTGGAGATCCTTTCAGTAAATCGGACAATGACATGTTTAAAGATGGACTCAGGAGAGCACAGTCTACAGACAGCTTGGGAACCTCGGGCTCATTGCAATCCAAAGCTTTAGGCTATAACTACAAAGCAAAATCTGCTGGAAACCTGGACGAGTCAGATTTTGGACCACTGGTAGGAGCAGATTCAGTGTCTGAGAACTTTGATACTGCATCCCTTGGGTCACTCCAGATGCCAAGTGGGTTTATGTTAACCAAAGATCAGGAAAGAGCAATCAAGGCGATGACACCAGAACAAGAAGAGACAGCGTCCCTCCTCTCCAGCGTTACCCAGGGCATGGAGAGTGCCTATGTGTCCCCTAGTGGTTATCGTTTAGTTAGTGAAACAGA)ATGGAATCTCTTGCAGAAAGAG___GTACATAATGCTGGAAATAAACTTGGTAGACGTTGTGATATGTGTTCCAATTACGAAAAACAGTTACAAGGAATTCAGATTCAGGAGGCTGAAACGAGAGACCAG|ACATGAAAGGACGTGAATTTGGAATCcGAGAAACCTGAGTTCCACCATGCTTTCTTCCTCTTGCAAGCCATGAAATCCACAGTGGGTTAGTgGATATTACAAAACCTCTGGTCCCACCTTATTAAGATG MAQPGPASQPDVSLQQRVAELEKINAEFLRAQQQLEQEFNQKRAKFKELYLAKEEDLKRQNAVLQAAQDDLGHLRTQLWEAQAEMENIKAIATVSENTKQEAIDEVKRQWREEVASLQAVMKETVRDYEHQFHLRLEQERTQWAQYRESAEREIADLRRRLSEGQEEENLENEMKKAQEDAEKLRSVVMPMEKEIAALKDKLTEAEDKIKELEASKVKELNHYLEAEKSCRTDLEMYVAVLNTQKSVLQEDAEKLRKELHEVCHLLEQERQQHNQLKHTWQKANDQFLESQRLLMRDMQRMEIVLTSEQLRQVEELKKKDQEDDEQQRLNKRKDHKKADVEEEIKIPVVCALTQEESSAQLSNEEEHLDSTRGSVHSLDAGLLLPSGDPFSKSDNDMFKDGLRRAQSTDSLGTSGSLQSKALGYNYKAKSAGNLDESDFGPLVGADSVSENFDTASLGSLQMPSGFMLTKDQERAIKAMTPEQEETASLLSSVTQGMESAYVSPSGYRLVSETEWNLLQKEVHNAGNKLGRRCDMCSNYEKQLQGIQIQEAETRDQ|t* 18BR017 ENSG00000184640.18 ENSG00000087157.19 +/+ +/+ chr17:77307197 chr17:78398252 CDS/splice-site CDS/splice-site deletion 2 5 0 113 53 high out-of-frame . . . . ENSG00000184640.18 ENSG00000087157.19 ENST00000427177.6 ENST00000262764.11 downstream upstream duplicates(1),mismatches(2) ^GCCACACTTTCCTGGGAGCGGCGGCCACGGAGGCACCATGAAGAAGTCTTACTCAG___GAGGCACGCGGACCTCCAGTGGCCGGCTCCGGAGGCTTGGTGACTCCAGTGGCCCAG|GTGGACTGCCTGGAAAGTACTCTAGAAAAGTCACTCCAAGCAAAGTTTCCTTCAAATCTCAAGGTCTCCATTCTCTTAGACTTCACGCGGGGCTCACGAG___GtCGGAAGAACTCCCGCACAATGCTGCTCCCACTCCTGCGGAGGTTCCCAGAGCAGGTCCGAGTCTCCCTCTTTCACACGCCGCACCTCCGTGGGCTGCTTCGGCTCCTCATCCCTGAGCGCTTCAACGAG(ACCATCGGCCTCCAGCACATTAAGGTGTACCTCTTCGACAACAGCGTCATCTTGAGCGG___TGCAAACCTGAGTGACTCCTACTTCACCAACCGCCAGGACCGCTACGTGTTCCTGCAGGACTGTGCGGAGATTGCCGACTTCTTCACGGAGCTGGTGGACGCGGTGGGGGATGTGTCCCTGCAGCTGCAGGGGGACGACACGGTGCAGGTGGTGGATGGGATGGTGCATCCTTACAAAG___GGGACCGGGCCGAGTACTGCAAGGCAGCCAATAAGAGGGTCATGGATGTGATCAACTCAGCCAGGACCCGCCAGCAGATGCTGCATGCCCAGACCTTCCACAGCAACTCTCTTTTGACCCAGGAAGATGCAGCAGCTGCTGGGGATCGCAGACCAGCCCCTGACACCTGGATTTATCCGCTGATTCAGATGAAGCCCTTCGAGATTCAAATCGATGAGATTGTCACTGAGACCCTGTTGACTGAGGCGGAGCGCGGGGCAAAGGTCTACCTCACCACTGGCTATTTCAACCTGACCCAGGCCTACATGGACCTGGTCTTGGGCACTCGGGCTGAGTACCAGATCCTGCTGGCCTCACCAGAGGTGAATGGCTTCTTTGGGGCCAAGGGGGTGGCCGGCGCCATCCCAGCGGCCTATGTGCACATCGAGCGACAGTTCTTCAGTGAGGTGTGCAGCCTGGGACAGCAGGAGCGGGTCCAGCTTCAGGAGTACTGGCGGAGGGGCTGGACGTTCCACGCCAAAG___GCCTCTGGCTGTACCTGGCAGGGAGCAGCCTGCCCTGTCTCACGCTGATTGGCTCTCCTAATTTTGGGTACAGGTCAGTTCACCGGGACCTGGAGGCCCAGATTGCGATCGTGACGGAGAACCAGGCCCTGCAGCAGCAGCTTCACCAG___GAGCAAGAGCAGCTCTACCTGAGGTCAGGTGTGGTGTCCTCTGCCACCTTCGAGCAGCCGAGTCGCCAGGTGAAGCTGTGGGTGAAGATGGTGACTCCACTGATCAAGAACTTCTTCTGAGGACAGACAG___GAATGGCCTTGATGAAGATGACAGGCATGGCCGGGGTCAGCTCTTTCAGCCGCGCTTCAGCGATGACTCCAGTCTGGGTGTCCCAGCGAGCCCCTGCAGGGACAGTATGGCTGAGGGTCAGGTGTGCTGCCAGTAAGTGAGGGAGGGGCTGGCAGGAAGGGTGGGGTCCTCACACTCCCCGCCCTCTGCAGAGCTGGGCTCTACCCCAAAAGGCTTCAGGCCAGCTGCCACGGCTGGAAGCAGAGGCCTTCGTAGGTGATGGCCTGCATGTTGTAACTACCCCGTCCCGCTGGGCTCAAGGAACAGCTCAGCTAAAGCCCTCGGGTTCCATCCGTTTAAATCTGTGGCATTTTCAGAGCCTCATCTGTCAGCCTTAATGTCAGTGGCAGGAAGTCATAACTCCAGCTAAAAATTACAGAGTAAAGTTCCCTGATTCTTAATGTGTAATGTCTGCCCTATGTGTACATACACAATATAATTATACATCTGTGCATATAAATATTGCCTTTAACCAGACTGCTATTATTTCTACTCGCCCTATTTAATGGTGTTTTTATTTCCTGTCTGAAATCTCAAAATAAACAAACATGGAGAGCTTA)$ MKKSYSGGTRTSSGRLRRLGDSSGP|gglpgkysrkvtpskvsfksqglhslrlhagltrseelphnaaptpaevpragpslplshaappwaasaphp* 18BR017 ENSG00000184640.18 ENSG00000087157.19 +/+ +/+ chr17:77307199 chr17:78399350 intron CDS/splice-site deletion 1 1 0 113 75 medium . . . . . ENSG00000184640.18 ENSG00000087157.19 ENST00000449803.6 ENST00000262764.11 downstream upstream duplicates(1) ^(ACTGGGCGGCCCTTAGACCCAGGCTGCCTGCTGTCTCTGGCAGGAACTCAAGTCGCTGGTCATCCTCAGAGCGGTGTTGGCCCGGGGCCTTCAGTGGCCTTTGTGTCTGGGTGAGAGGAACCCTGGATGGCCACTCTGCCCTGAGTGTGTGGGTCCCCAGAAGTGCTGGGTTAGGGGGCACGGAGGGCCAGAAAGTCCCCTTTGGAGCGCTGGACTCTCTCGCTGACTCCTACCCCACCCCGGCCTGGGGTTTCAGAGAAGGGGTCCAGGCAGGAGTGTCATCTTTTCTCAATGG)GGATGTGGCTTCAGTCTCTGTCCAG___GAGGCACGCGGACCTCCAGTGGCCGGCTCCGGAGGCTTGGTGACTCCAGTGGCCCAGGT|CGGAAGAACTCCCGCACAATGCTGCTCCCACTCCTGCGGAGGTTCCCAGAGCAGGTCCGAGTCTCCCTCTTTCACACGCCGCACCTCCGTGGGCTGCTTCGGCTCCTCATCCCTGAGCGCTTCAACGAGACCATCGGCCTCCAGCACATTAAGGTGTACC(TCTTCGACAACAGCGTCATCTTGAGCGG___TGCAAACCTGAGTGACTCCTACTTCACCAACCGCCAGGACCGCTACGTGTTCCTGCAGGACTGTGCGGAGATTGCCGACTTCTTCACGGAGCTGGTGGACGCGGTGGGGGATGTGTCCCTGCAGCTGCAGGGGGACGACACGGTGCAGGTGGTGGATGGGATGGTGCATCCTTACAAAG___GGGACCGGGCCGAGTACTGCAAGGCAGCCAATAAGAGGGTCATGGATGTGATCAACTCAGCCAGGACCCGCCAGCAGATGCTGCATGCCCAGACCTTCCACAGCAACTCTCTTTTGACCCAGGAAGATGCAGCAGCTGCTGGGGATCGCAGACCAGCCCCTGACACCTGGATTTATCCGCTGATTCAGATGAAGCCCTTCGAGATTCAAATCGATGAGATTGTCACTGAGACCCTGTTGACTGAGGCGGAGCGCGGGGCAAAGGTCTACCTCACCACTGGCTATTTCAACCTGACCCAGGCCTACATGGACCTGGTCTTGGGCACTCGGGCTGAGTACCAGATCCTGCTGGCCTCACCAGAGGTGAATGGCTTCTTTGGGGCCAAGGGGGTGGCCGGCGCCATCCCAGCGGCCTATGTGCACATCGAGCGACAGTTCTTCAGTGAGGTGTGCAGCCTGGGACAGCAGGAGCGGGTCCAGCTTCAGGAGTACTGGCGGAGGGGCTGGACGTTCCACGCCAAAG___GCCTCTGGCTGTACCTGGCAGGGAGCAGCCTGCCCTGTCTCACGCTGATTGGCTCTCCTAATTTTGGGTACAGGTCAGTTCACCGGGACCTGGAGGCCCAGATTGCGATCGTGACGGAGAACCAGGCCCTGCAGCAGCAGCTTCACCAG___GAGCAAGAGCAGCTCTACCTGAGGTCAGGTGTGGTGTCCTCTGCCACCTTCGAGCAGCCGAGTCGCCAGGTGAAGCTGTGGGTGAAGATGGTGACTCCACTGATCAAGAACTTCTTCTGAGGACAGACAG___GAATGGCCTTGATGAAGATGACAGGCATGGCCGGGGTCAGCTCTTTCAGCCGCGCTTCAGCGATGACTCCAGTCTGGGTGTCCCAGCGAGCCCCTGCAGGGACAGTATGGCTGAGGGTCAGGTGTGCTGCCAGTAAGTGAGGGAGGGGCTGGCAGGAAGGGTGGGGTCCTCACACTCCCCGCCCTCTGCAGAGCTGGGCTCTACCCCAAAAGGCTTCAGGCCAGCTGCCACGGCTGGAAGCAGAGGCCTTCGTAGGTGATGGCCTGCATGTTGTAACTACCCCGTCCCGCTGGGCTCAAGGAACAGCTCAGCTAAAGCCCTCGGGTTCCATCCGTTTAAATCTGTGGCATTTTCAGAGCCTCATCTGTCAGCCTTAATGTCAGTGGCAGGAAGTCATAACTCCAGCTAAAAATTACAGAGTAAAGTTCCCTGATTCTTAATGTGTAATGTCTGCCCTATGTGTACATACACAATATAATTATACATCTGTGCATATAAATATTGCCTTTAACCAGACTGCTATTATTTCTACTCGCCCTATTTAATGGTGTTTTTATTTCCTGTCTGAAATCTCAAAATAAACAAACATGGAGAGCTTA)$ . 18BR017 ENSG00000124164.16 ENSG00000287752.1 +/+ -/- chr20:58389517 chr20:59468651 CDS/splice-site exon/splice-site inversion 3 3 0 133 10 high out-of-frame . MSP_(Major_sperm_protein)_domain(100%)| . . ENSG00000124164.16 ENSG00000287752.1 ENST00000475243.6 ENST00000655291.1 downstream downstream . ^(GCGTGCCGTCAGCTCGCCGGGCACCGCGGCCTCGCCCTCGCCCTCCGCCCCTGCGCCTGCACCGCGTAGACCGACCCCCCCCCAGCGCGCCCACCCGGTAGAGGACCCCCGCCCGTGCCCCGACCGGTCCCCGCCTTTTTGTAAAACT)TAAAGCGGGCGCAGCATTAACGCTTCCCGCCCCGGTGACCTCTCAGGGGTCTCCCCGCCAAAGGTGCTCCGCCGCTAAGGAACATGGCGAAGGTGGAGCAGGTCCTGAGCCTCGAGCCGCAGCACGAGCTCAAATTCCGAG|AGAACTGCCGAGAACATCAATTGAGACAGAAGCGCTTCAGGTGTGGCCCCTGGACCAGCAGCATCCACCTCACCTGGGAACATGTTGGAAATGCAAGTTCTCCCCCTCgCCAGATCTCCTAAATCAGATCCTCAGGGGCGAGGCCAGCACGCTGTGTTTGAACAAACCCTCGCACTGATTCAGACGCATGCTCTGCCACAGGCACAAGGTGACAGGTGTCAAGGG(AACACAGAAAGACAGAGAGACGAAGGGGAGCTACTGGCAGTACCAACAGCCAAGACCTGGGGCCCTCTCCTCCTGCCTCCAGGAGGCCTGATTTTCCCTTCCCTGCCTCCCTGCAGAAGTTCAAGGCTGTTCTTTATGAAAGAACTTACAGGTGGCCTCAGGCCCCCTGTTGAAGGTCATGGTATCTTCCCTCTTGTCCTTTCCCAGTCCAGGAGCACTCGGCCGTGACCCCCGAGAGATCCATGCCCTGTCATGCGCCTGCCTCTCAGCCTCTCCCCAGGCTAACTGCTGCAGTGCCAAGGAGGGCCCTGCCCTTTGCCTCTGTGCCCCCATTGCCAGGGTTTCCTGTTCAGCTGTGAAGGGCTCCCTCGATTGCTCCAGAGTCTGGAATTTGGGAACACTTCAAGCAGAAAGTTTATAATTCACCTCCCAATTCTTTCAGCCCTGTGAACTGCCTACTGCTTGAAAAACAAAAAACATCAAGTGACTGCTGATTATGGACTAGAACAGAAATCATGCAAATATTCTTACTTTGGCTAAGTTAAAATAGATTCCAAGGCACAGGCTTTGGCATGGCAGAAGCCAGGGCCCTCCATCCAGATTGGCTGTACCAGGTGACTTCCCTGAGCCCGCAGTTTTCTCACTGAAAATAATAATAATTGCTATTACTGT)$ MAKVEQVLSLEPQHELKFR|encrehqlrqkrfrcgpwtssihltwehvgnasspprqis* 18BR017 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 1 1 0 105 17 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream duplicates(1) ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTT)CATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTG(GAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 18BR017 ENSG00000136444.10(16059),ENSG00000249451.1(1379) ENSG00000136449.15 ./+ +/- chr17:50502033 chr17:50518881 intergenic intron inversion 15 12 0 32 28 medium . . . . . . ENSG00000136449.15 . . downstream downstream duplicates(2) CATATTTAGTGGCTTAACACAAATTTATCTTGCAGCCTCTGGAGGTCAGAAGTCTGAAATGGTCCAGGTGTCTGCAGAGCTGTGTTCCTTGTGGAGGCTCTAGGAGAGAATCTGCCTCTTGCCTTTTCCAGCTTCTTAAGGC|GATTTCAGGATCCACTGAAGCTTCAGAGTGAGACACTCTTGGGAGTGAAAGCACAAATGTGGTCAGCCCAAGGCCAGGCTCTGGAGGAGAGCAAACAACCCAGCAGAGCCTTGCTGCCAGATGGAGGCCGGGCGGGAGCCCTGTCTGCTCTGCTCACCGCTGAGGGCTTCCTGCTGCTTCTTCCGCAGGGCTGTGTTACGCTGCCAGTTTTTCAGAAAGTTGTGCTGAGGAGGTGGGGCCCAGGGAGGTCTCTTCTCTTCTTTTGGGGCTTTTTGCTTTGACTCTCCTTCAGCAGAGATGAGGGTCATCAGACAGGGTGAGGTAGGTATCCGCTCAGCCAGCT . 18BR017 ENSG00000185630.19 ENSG00000201987.1(30210),ENSG00000225487.2(36776) +/+ ./+ chr1:164821626 chr1:164884542 CDS/splice-site intergenic deletion/read-through 5 12 2 537 37 medium stop-codon . Homeobox_domain(100%),PBC_domain(100%)| . . ENSG00000185630.19 . ENST00000367897.5 . downstream upstream duplicates(2),mismappers(1),mismatches(1) ^(ATGGACGAGCAGCCCAGGCTGATGCATTCCCATGCTGGGGTCGGGATGGCCGGACACCCCGGCCTGTCCCAGCACTTGCAGGATGGGGCCGGAGGGACCGAGGGGGAGGGCGGGAGGAAGCAGGACATTGGAGACATTTTACAGCAAATTATGACCATCACAGACCAGAGTTTGGATGAGGCGCAGGCCAG___AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTGTTGTGTGAAATCAAAGAAAAAACAG___TTTTGAGTATCCGAGGAGCCCAGGAGGAGGAACCCACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCTGAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGTTCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATCTACCATACGGAGCTGGAGAAATACGAGCAG___GCCTGCAACGAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATGGTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGCGAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG___GCGGAAGAGACGGAATTTCAACAAGCAAGCGACAGAAATCCTGAATGAATATTTCTATTCCCATCTCAGCAACCCTTACCCCAGTGAGGAAGCCAAAGAGGAGTTAGCCAAGAAGTGTGGCATCACAGTCTCCCAG___GTATCAAACTGGTTTGGAAATAAGCGAATCCGGTACAAGAAGAACATA)GGTAAATTTCAAGAGGAAGCCAATATTTATGCTGCCAAAACAGCTGTCACTGCTACCAATGTGTCAGCCCATGGAAGCCAAGCTAACTCGCCCTCAACTCCCAACTCGGCTG___GTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGT|GAAATTGCAAGAACCTATTGATGGCTTGGATGCTCTGGTGGTGACAGCAAGTCCTCTTCTCTTGACTGAAGAAATGTCTTCCCCTATCTGAAAAGTGGCCTCTCTTCCGGAATGACACATACTGACTTTTGAAGAAGCAAAAGGATACCTGCTGGCCAGTCATATCAGCCAAAAAACTCTGGTGAGCAGTGAGTTGGCAGATGTTGCAACTGGAAGACTGTGGCATCAACAGAGCCCCAAAGCAATAATCTCTCTTTCTCTTCGCC . 18BR017 ENSG00000136449.15 ENSG00000250976.1 +/- -/- chr17:50518526 chr17:50563260 intron exon duplication/3'-3' 13 4 0 33 12 medium . . . . . ENSG00000136449.15 ENSG00000250976.1 . ENST00000513378.1 upstream downstream duplicates(4),mismatches(1) GAGCCTTGCTGCCAGATGGAGGCCGGGCGGGAGCCCTGTCTGCTCTGCTCACCGCTGAGGGCTTCCTGCTGCTTCTTCCGCAGGGCTGTGTTACGCTGCCAGTTTTTCAGAAAGTTGTGCTGAGGAGGTGGGGCCCAGGGAGGTCTCTTCTCTTCTTTTGGGGCTTTTTGCTTTGACTCTCCTTCAGCAGAGATGAGGGTCATCAGACAGGGTGAGGTAGGTATCCGCTCAGCCAGCTGAAAAGTACAACA|AGGAAGAAGGGGCAGTGGATGAGAAGAGGATGTGATGAGGGGAGCTTCCTAAAGACCC$ . 18BR017 ENSG00000057608.17 ENSG00000185736.16 -/- -/- chr10:5794885 chr10:1659011 CDS/splice-site intron deletion 5 8 0 2684 71 medium out-of-frame . GDP_dissociation_inhibitor(100%)|Adenosine-deaminase_(editase)_domain(100%),Double-stranded_RNA_binding_motif(100%) . . ENSG00000057608.17 ENSG00000185736.16 ENST00000380191.9 . upstream downstream duplicates(2) ^(AGTTCTTCTCTTCCCGTCTGAGGTGGCGGTCGGTCTCGCCTTGTCGCCAGCTCCATTTTCCTCTCTTTCTCTTCCCCTTTCCTTCGCGCCCAAGAGCGCCTCCCAGCCTCGTAGGGTGGTCACGGAGCCCCTGCGCCTTTTCCTTGCTCGGGTCCTGCGTCCGCGCCTGCCCCGCCATGAATGAGGAGTACGACGTGATCGTGCTGGGCACCGGCCTGACG___GAATGTATCCTGTCAGGTATAATGTCAGTGAATGGCAAGAAAGTTCTTCATATGGATCGAAACCCTTACTACGGAGGAGAGAGTGCATCTATAACACCATTGGAAGAT___TTATACAAAAGATTTAAAATACCAGGATCACCACCCGAGTCAA)TGGGGAGAGGAAGAGACTGGAATGTTGACTTGATTCCCAAGTTCCTTATGGCTAATG___GTCAGCTGGTTAAGATGCTGCTTTATACAGAGGTAACTCGCTATCTGGATTTTAAAGTGACTGAAGGGAGCTTTGTCTATAAGGGTGGAAAAATCTACAAGGTTCCTTCCACTGAAGCAGAAGCCCTGGCATCTA|TGCTTATGTTAACCACAACTTGAGTGAATTCAATTGAACAGAACCACAGTGTCTGGGAAAAAATCAATCTCAGAAGAACCCTTTCTCCCCACTTGGCTGGCTTCATGGCACTTGGACAGAGAAGTGGAAATTCAGAGATTTTGCAGGATAACAATACTGACAGCTGAACCCCAAACAATAGCAGCCTCCGCGAGACTAGCTCAGAGCACACGACACAAA MNEEYDVIVLGTGLTECILSGIMSVNGKKVLHMDRNPYYGGESASITPLEDLYKRFKIPGSPPESMGRGRDWNVDLIPKFLMANGQLVKMLLYTEVTRYLDFKVTEGSFVYKGGKIYKVPSTEAEALAS|mlmlttt* 18BR017 ENSG00000057608.17 ENSG00000185736.16 -/- -/- chr10:5794885 chr10:1379160 CDS/splice-site CDS/splice-site deletion 5 4 0 2684 13 medium in-frame . GDP_dissociation_inhibitor(100%)|Adenosine-deaminase_(editase)_domain(100%),Double-stranded_RNA_binding_motif(100%) . . ENSG00000057608.17 ENSG00000185736.16 ENST00000380191.9 ENST00000381312.6 upstream downstream duplicates(1) ^(AGTTCTTCTCTTCCCGTCTGAGGTGGCGGTCGGTCTCGCCTTGTCGCCAGCTCCATTTTCCTCTCTTTCTCTTCCCCTTTCCTTCGCGCCCAAGAGCGCCTCCCAGCCTCGTAGGGTGGTCACGGAGCCCCTGCGCCTTTTCCTTGCTCGGGTCCTGCGTCCGCGCCTGCCCCGCCATGAATGAGGAGTACGACGTGATCGTGCTGGGCACCGGCCTGACG___GAATGTATCCTGTCAGGTATAATGTCAGTGAATGGCAAGAAAGTTCTTCATATGGATCGAAACCCTTACTACGGAGGAGAGAGTGCATCTATAACACCATTGGAAGAT___TTATAC)AAAAGATTTAAAATACCAGGATCACCACCCGAGTCAATGGGGAGAGGAAGAGACTGGAATGTTGACTTGATTCCCAAGTTCCTTATGGCTAATG___GTCAGCTGGTTAAGATGCTGCTTTATACAGAGGTAACTCGCTATCTGGATTTTAAAGTGACTGAAGGGAGCTTTGTCTATAAGGGTGGAAAAATCTACAAGGTTCCTTCCACTGAAGCAGAAGCCCTGGCATCTA|ATAAAGTAAGCATATTGTCAACCTTCCTCGCTCCTTTCAAGCACCTGAGTCCTGGCATCACAAACACGGAGGATGACGACACCCTCA___GTACCAGCAGCGCGGAGGTGAAGGAGAACCGCAACGTGGGC(AACCTGGCCGCGCGGCCACCGCCCTCCGGGGACCGGGCCCGGGGCGGCGCGCCCGGCGCGAAGAGGAAGCGGCCGCTGGAGGAGGGGAATGGGGGCCACTTGTGCAAACTGCAGCTGGTCTGGAAGAAGCTGTCGTGGTCGGTGGCGCCCAAGAACGCGCTGGTGCAGCTGCACGAGCTGAGGCCGGGCCTGCAGTACCGGACAGTGTCGCAGACGGGCCCGGTGCATGCCCCGGTCTTCGCGGTAGCGGTGGAGGTGAACGGGCTCACGTTCGAGGGCACAGGCCCCACCAAGAAGAAGGCCAAGATGCGCGCGGCGGAGCTGGCACTCAGGTCCTTCGTGCAGTTCCCCAACGCCTGCCAGGCGCACCTGGCCATGGGCGGGGGCCCGGGCCCCGGCACGGACTTCACCTCCGACCAGGCCGATTTCCCCGACACGCTCTTCCAGGAGTTCGAGCCCCCGGCGCCGCGCCCCGGACTCGCGGGAGGCCGCCCCGGGGACGCCGCGCTTCTGTCCGCGGCCTACGGGCGACGGCGGCTGCTGTGCCGCGCGCTGGACCTGGTGGGCCCGACCCCCGCCACCCCCGCGGCCCCGGGCGAGCGCAACCCCGTGGTGCTGCTGAACCGCCTGCGCGCCGGGCTGCGCTACGTGTGTCTGGCAGAACCGGCCGAGCGGCGCGCGCGGAGCTTCGTGATGGCCGTGAGCGTGGACGGCAGGACGTTCGAGGGCTCGGGGCGCAGCAAGAAGCTGGCCCGGGGTCAGGCCGCGCAGGCCGCACTGCAGGAGCTGTTCGACATCCAGATGCCCGGCCACGCGCCCGGCAGGGCCAGGAGGACGCCAATGCCGCAG___GAATTCGCAGACTCCATATCCCAGCTGGTCACACAGAAGTTCCGCGAGGTGACGACGGACCTCACGCCCATGCACGCCCGCCATAAAGCGCTGGCAGGAATCGTCATGACCAAAG___GCCTGGATGCTCGGCAGGCGCAGGTCGTGGCCCTGTCCTCGGGGACCAAGTGCATCAGCGGCGAGCACCTCAGTGACCAGGGGCTGGTGGTGAATGACTGCCACGCGGAGGTCGTGGCCCGGCGGGCGTTCCTGCACTTCCTCTACACGCAGCTGGAGCTGCACCTGAG___CAAGCGGCGCGAGGACTCAGAGCGATCGATATTCGTGCGGTTAAAAGAAGGTGGCTACCGGCTGCGAGAGAACATCCTCTTCCATCTCTACGTGAGCACCTCCCCCTGTGGAGACGCAAGACTCCACTCTCCCTACGAGATCACCACAGACC___TGCACAGCAGCAAACACCTCGTCAGGAAGTTCCGCGGGCACCTGCGCACCAAGATCGAGTCCGGGGAAGGGACGGTCCCCGTGCGTGGCCCCAGCGCAGTGCAGACCTGGGACGGCGTCCTGCTGGGGGAGCAGCTGATCACCATGTCCTGCACGGACAAGATCGCCAG___GTGGAACGTCCTGGGGCTGCAGGGCGCGCTCCTGTCCCACTTCGTGGAGCCCGTGTACCTGCAGAGCATCGTGGTGGGCAGCCTGCACCACACGGGCCACCTCGCACGCGTCATGAGCCACCGCATGGAGGGTGTCGGCCAGCTGCCCGCCTCCTACCGGCACAACCGGCCTCTCCTCAGCG___GCGTGAGTGACGCCGAGGCGCGCCAGCCGGGGAAGTCGCCCCCCTTCAGCATGAACTGGGTCGTGGGCAGCGCGGACCTGGAGATTATCAACGCCACCACTGGGCGGAGGAGCTGTGGGGGCCCATCCCGGCTCTGCAAGCACGTGCTGTCTGCACGGTGGGCGCGGCTGTATGGCAGG___CTGAGCACACGGACACCCAGCCCTGGAGACACGCCCTCCATGTACTGTGAGGCCAAGCTGGGGGCGCACACCTACCAGTCTGTGAAACAGCAGCTGTTCAAGGCCTTTCAGAAGGCTGGCCTGGGCACCTGGGTGAGGAAACCACCGGAGCAGCAGCAGTTTCTACTGACTCTCTAGGCTGCGGGCTCCTGGCTGCTGGAGCTGAGCGGGACGCTGGAGGGATGGGACCGTGTCTGGGGGGCGACGTGGCGGGTCGGCCGGTTCCCTGCATTCGTTTTACTTTGGTGTCCCAGAAACACGCGAGTGTGCAATGTTTGGACGAGCAACAACACAAATTCAGAACGTGCCTCTTTCCAGATCGCTGGCCCCAGAACCCTGTCCCCCACACCCAGGGGCACATGCACTGTTGAGTTAGCGCCGACTCTTCCTGTGGAGTCTGAGGGAGGGGCTCCATTCAGGCAAAGGGGTTTTAGCTGCAGCCTTGGAAGGAGGCACCGACACGACACCAGGCAGGAGTGAGCCTCAGGCCCCGTCCCTGCACCCCACCCCTGCGTGCGCCTCTTGGTGATGCTGGGGTCTCACTAGCTTGAGGGGGCACATGAAGATAAGCCACAAATGAAGAGAAAAGCCATGCCCACCCCAGCCCCAGAGAAACCAATAAGAATCCTCTATTATTTTCACTATTCATTTAGGTTTTTATACTCCACCTCCTTTCAAAAAAGATTTAAGATGTACGACATTACCGAACACCTAAAATAGAACCAGAGAAACGAAAGCCATTCCCACAAAGTGAAGGAACAGTTTCCAAAACCCCTGCGAGGCAGAGTTAAGACCTGTGACGTGGGGAGCCTGGAAACACCCGGCCCACGCGTGCTGCAGATGTGGGGAGCCTGGAAACACCCGGCCCACGCGTGCTGCAGATGTGGGGAGCCTGGAAACACCCGGCCCACGCGTGCTGCAGATGTGGGGAGTCTGGAAACACCCGGCCCACGCGTGCTGCAGATGTGGGGAGCCCGGAAACACCTGGCCCATGCCTGTTCAGTCCGTCATGGCGTTTGGTTTATGGTGGCCGATACTAAGAGCCACTGAGGTCTGGGTTGTGTAAGGGTTAGCTACCACCCTATAACCTCCCTACCAGGTAATAAGGAGACCAAGTCTTTGATCAAATTCTGATTTTTTAACTAAATTTTCATTAGAAAGCAAGCACAAAATAAAATCAAAACAACCTTTACCTTCAGCTTGAGAGGCTACCAGCTCTCTATTCTTTCAGATTCTCCAATCAACACCTTGCAGGACAAGACCCCAAAAAAGTTCAGCTGTCAAAAAATGTAAGAGGCAGGATTCTGTGACCCTCAGAGCAGGCTTCCAACACCAGAGACCTTCAGCTCACAGTGGAGATGGGACATGGGGGCTTTAGCCCACAGCATCATCCCTGAGAGCCAAGGCGCTGTATTCATACGGGGTCAGGCTCTTTTCCAAGTATCTTTACGTAATCCATGTACCTCGAGCTGCTGTCATCTCACCTCCGAGAACTCATTTCTAACATTCATCATGCTAGATAGCCAGTCTCTCATTTCTCCAACTTAAAAAATCCATCTCTGAAATTCATGACAGTGATGGCAGACGGCAAAGCATGGTGGTGTCCACCTCTGGGGTGTGGGCTTCCCGGAAAGAATCCCAGCTGACCACCCCAGAAAGTGCAAGAATAACATTGTGCTGTACATAGTCAAGTGCTATAAATTACAGTTATCATAATGAGAAGGCAGAAATGAAACTGAGTTGTAGCTATTTGTTACAAGATAATAAGAAGTAGAGATATTAGTATGGAAAAAGAAACTTTTCCTGGGATTTAAAATCAGGCCAAATTTATCACTCGAGTTCTTTTAGAAAAGAAAACAGGTACTGGAGTAGACAACTTCTTCCAGATAAAGTTTCAAAAGATACGAGAACATTTTTTCAAATAAAGGACTCACATTAATCTTTTATAAAAATCACAAAAATAAATGAAATCTTAATTCAGTGCAAAAGCTAAGCTCAAACGACCAGTTTCTATTAAGTTCTGGTAACTTGACATCACTAGGATGAAGCTTAGAGAACTTAGAGTCGAGAGGTGATGGGTGGCTCAGACATTCGCAGCAGTCAGAAGTGAGCGCTCCCCTGAATGCGTGGGAGCACGGCCAGCTCCTGGCTGAAGTCTCCCACCCAGGCCTCAAATCACCTTCATCTGAGATGTTGGCTAGAGAAGCATATAATGCTTTGTCCCAGTGGGCTCCAAATCACGCTGTTTCTGCAGCGAGGGGGCCTGTGTTGTAAGCAGATTTCACTGTCACAGGGAAGACGCAGGGTCTGATTCACGGGACTCGGAAAGCGCTCGGCCACCCAGTGGCCAGCATCATGAAGCCACAGCTGGGGGGTTGGGATTCGTTTTGTCTCAGGCATTGACCTTCCAGAAACAACTCAGACTTTACTGAAATATCAACATCCACATCTGGAGAAAGCCACACATTAATTCCATGCTACCCATTAGTACAAGTGTATGGATTCGTGTATTAAGTCCACAGGAGACTCCATGGAAGGAGAGATTAAAGCTCTTCAGAGAAGGCCGATAGCGACAGAAGAGTTTCCAATGCAGCCAGAGTGAGGTTGAGGTGCCGGAGCCTTTCCGTGGAGGGATCTGTCAGAGGGGATGTGGGCTGCAGAGGGGACCCCACGTAAGGAAAGGAGGGTCCCAGGCCCTGGGTAGTGAAAGGAGAAGGTAGTCGAGGCAGTCAAGGGTGACCCTACACGCAGGAGGCACGCCACACCAGATCACGCCACACGCAGGCTGCTCCCAACTGGCAGGGCCTGACCCAGCCAGGAAGGGCCAGGTCCTAGGATTCCACAGTGCCAGGAGTGCCCGAAGGGGCCAGGTCCCAGGATTCCCACAGCCCCAGGTGTGCCTGGAAGACCCGGGTCCCAGGATTCCCACAGCCCCAGCTATGCTTGGGGGGGCCGAGTCCCAGGATTCCCACAGCCCCAGGTGTGCCTGGAAGACCCGGGTCCCAGGATTCCCACAGCCCCAAGAGTTCCCGGAAGAGCTGGGTCCCAGGATTCCCACAGCCCCAGCTATGCTTGGGGGGGCCGGGTCCCAGGATTCCCACAGCCCCAGGTGTGCCTGGAAGACCCAGGTCCCAGGATTCCCACAGCCCTGGATGTGCCTGGAGGGGCTGTGCCACCTCTGCAGAGATGGAAGGGCTCGTGTTGAAGCCTGAGGATTTCGCCCTCAGGTCCAGGTCAGAACATCCCAGCACCACTTTCAGGCCATGTCTGCCCTGCAGTTTTGACCACTGAATTGGTCTTAAGAGTGGCCACCCATTCCCCTCCAAGTGAGGGGGCAAGACACAAGTAGGGGACGGGTCACTTTCTGTCACCCTGAAAATACGCTGGGCACGACACAAGTAGGGGATGGGTCACTTTCTGTCACCCTGAAAATACGCTGGGCACGACACAAGGGGGGCTGATGAAGTCAGGCCCGCCCCTCCAAGTCCACCTCGAAATCACCGTCTGGCTTCCTCGCACTTCCCACCACCTGACACCGCCAAGCCCCTTGCTTCAGATTTTCTGTGGTCTGTATTCATACCCTTGCTTCAGATTTTCTGTAGTCTATATTCATGCCTGCTTAGGCCCCTACAAAAGTCCTCATAAAACCAGCACCACCTTTATCTGCCTCCAAAACACACACTGCTTTCCCATCAGGAAGATCAGCAATGTGGTTTCCGGCCTGGTTCTTAGTCAAAAAGTTAGTGTCTGGTGGTTTCTGGCCTTTTTGCAGGACGGGGCGCAGGGAACGGCTGCGCGGCCAGGCAGCCTCCGCTGTCCACCTCCAGCCCCGGTTTTGCAGCCGTGTGTGATATCAAGGGATAGAGTTAGGGTTTCTGTGGGTTTTGTTTTTGCTGAGGAAAGGATGTGCAGGTCGATAGCTATTGTTTCCTTTCCATTCCTGTGATTCTCTTTACATCTGTATATATCTATCACACCATGCTGACTTTGTGATGAGTCCTGTTCCTCAGAAACATCAAGCTGGGTTCCTTTTCAAAGAAACACACAGATCATATTTCTCCATCTCATTTTGTTTTCACAGGGAGCTTTTCTTATCAACAAAGTCGCATGCTTTTTTTTTTGGATATAATGTTTATCACGTCTGGAGAGCCATAAACAGTAAATACAGAGGATATCAATGCCCAGAATAGTTATTTTGATGAAATCCTATTTTTAGATAATAAATTTCAAGATGTGTCTATAGTGTATTGTTTAAAACAACTGAAGACATTTGAGACGTACATAAAGTAGACATTTTTAATTTAGGGAAACTTATATGCCCTTTTTTAAGAAGCCATTCTAATAAAATAATCTGACTAATTGGCCCAAAATACAATAAGTATCACTTTCTAACAGAGACCAAAGGGAAGCTGAGAGGCTTTCCTTTTATGTACTACCGTTGGATCGCTGCAGCCGCCTCTCATAACACCCAACAGAACCCGGTGAGGCTCTGTGGGCTTCCCGCGGCCCTCAGGGAGGCTGCAGAGTCCCCTAGTCCATGTCAGGGAGCCGCCATCCCACATACCTCCAAAGCCTGTCCTCGCCTGCAGTTTTTGCAGAGCTCGCGGTTGGAGGTGGAAATTTAGAAGCCCTGTGTTGCAGGAGAGGCAGTAGCACCCCCAGGCAGCTCTTAGCAGGGACAGACCACCCCCCGCCTCGCTGGTATTTTAGGGTCTTTTGGTATTTTGCCACTGTGTGGGGCTAGGCGGGTGGCTGGAGGACACGGTGTAGGCCTTGCCGCTGTCTGGGTTCCTCGCCACTGCAGGAGCAGGGCTGTTTCTGGAAACACTGGGCTGCTGGTGACCCGTCAAACTTCTCCCACAAATTCTGAATCCGAGAAAGTGAAGGAAGGATGGTGGGGAAGTGAGGAGGCAGGAGCAGAGGCCACAGGGACCAACCAGAGATGCGGTGGAGACAGAGGAGCTTCCTTCTCAGGCTGTTTCTGGGAAGCCTGAGAGGCGGCCAGCACCACCCTCCGCTCACTCTCCCCTCAGCCTCTTCGCTTCCCTTCTCAACCCTTTCTCTCCTCCTCGCCTCTTCCCTTTCTTGCTGTCTTGTTAGTCCCTGTCCCAAAACTCCTGGCTCCTTTGTTCTGCTGCCGTGGCCCCCACCCAGGAGGAGGTCTCAGGCACCATCCCCCCACGAGGGATCCACACAACAGGTTCATGCTGGGGCTGGGGGAGCCCCGCTGGGTTCCTGATGCCTTGTGCACAGGGAGTTGCTGCAGTCATTTTTGGACTCTCCTGAATGTGTCCACATGTTCTGACCTCCCACCAGAAGGAACGCTGGTGGCCACATCTCTAGAGATCTATTTACTTTTTTGAGACCGGCTTATGAGATTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTAGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCGCTGGCCTCTAGAGATTCACACCAAACAATATCACTCCTGCGGGAACCGCAGACAGATCAAACCCTGGTGAGAGGAACACTTTATTTCCCAACTCATCATCCTAAGCCAAGGTTGGAGGGATGAGCATTCCCTAAACACCAAGGCGAGATCACCTGGTCCCAGTGCCTCTTTTCACACAGGCCCTAGATTTCTATCTCTCTGCAGTTTATGCATCGGTAAAAAAAAAAAAATCTCTCCCAGTGTGCCCCGTTAGTTTTCAGCATTTTGTAAGCAAAATGAACTTAACACATAGTAATTCTAATTGAAGGTATGTACATAAAAAGCATGATAGAATGGCAATATTGTATCAATGGATGTACATTTGTAATATTTGTAAAAAAAAATCCAAAACCTTAAAATATGAATTTACATGTTAATTTGCCTCTAAGTTCTATAAATTGCACTTCAGTGATATCTAATAAGTGAATGTTTCTGTTAAGTAAATAAAAATATTCAGTAAAATTGTT)$ MNEEYDVIVLGTGLTECILSGIMSVNGKKVLHMDRNPYYGGESASITPLEDLYKRFKIPGSPPESMGRGRDWNVDLIPKFLMANGQLVKMLLYTEVTRYLDFKVTEGSFVYKGGKIYKVPSTEAEALAS|nKVSILSTFLAPFKHLSPGITNTEDDDTLSTSSAEVKENRNVGNLAARPPPSGDRARGGAPGAKRKRPLEEGNGGHLCKLQLVWKKLSWSVAPKNALVQLHELRPGLQYRTVSQTGPVHAPVFAVAVEVNGLTFEGTGPTKKKAKMRAAELALRSFVQFPNACQAHLAMGGGPGPGTDFTSDQADFPDTLFQEFEPPAPRPGLAGGRPGDAALLSAAYGRRRLLCRALDLVGPTPATPAAPGERNPVVLLNRLRAGLRYVCLAEPAERRARSFVMAVSVDGRTFEGSGRSKKLARGQAAQAALQELFDIQMPGHAPGRARRTPMPQEFADSISQLVTQKFREVTTDLTPMHARHKALAGIVMTKGLDARQAQVVALSSGTKCISGEHLSDQGLVVNDCHAEVVARRAFLHFLYTQLELHLSKRREDSERSIFVRLKEGGYRLRENILFHLYVSTSPCGDARLHSPYEITTDLHSSKHLVRKFRGHLRTKIESGEGTVPVRGPSAVQTWDGVLLGEQLITMSCTDKIARWNVLGLQGALLSHFVEPVYLQSIVVGSLHHTGHLARVMSHRMEGVGQLPASYRHNRPLLSGVSDAEARQPGKSPPFSMNWVVGSADLEIINATTGRRSCGGPSRLCKHVLSARWARLYGRLSTRTPSPGDTPSMYCEAKLGAHTYQSVKQQLFKAFQKAGLGTWVRKPPEQQQFLLTL* 18BR017 ENSG00000132819.17 ENSG00000207158.1(286945),ENSG00000231078.1(32709) +/+ ./+ chr20:57391872 chr20:57073032 intron intergenic duplication 1 3 0 3 7 medium out-of-frame . . . . ENSG00000132819.17 . ENST00000356208.10 . downstream upstream . ^(GCAGAGTCCCCGCAGCGCCGGTCGGGAGCGCAGCGCGGCGCACGTCGGCGCGCACGGCGGGACGGGCGCCGGAGTGGTCGGGCCTGGCGGCTGGACGGGCGCCCCTCGCTGCCCCGCGCGCTCCCCGCCGCCCCCCATGAGCGCAGCCCCGCGCGGCCCGGGTCCGTAGGCGGCGGGGCGCCCCCCATGCTGCTGCAGCCCGCGCCGTGCGCCCCGAGCGCGGGCTTCCCGCGGCCCCTGGCCGCCCCCGGCGCCATGCACGGCTCGCAGAAGGACACCACGTTCACCAAGATCTTCGTGGGCGGCCTGCCGTACCACACTACCGACGCCTCGCTCAGGAAGTACTTCGAGGGCTTCGGCGACATCGAGGAGGCCGTG)GTCATCACCGACCGCCAGACGGGCAAGTCCCGCGGCTACGGCTTCGTAAGTGGCCCCCGCGCCCGGGCCCGCACCCCGCCGCACACgTTATCGCGGCCC|ATGCAGTGGGTACTCTAAAATACGAAGGAGCAGGTTTCGGGTGCAGCAGCAGCAAGGATAGAGCTGAAACACAGATGCCTAAGGGAAGGACGCCAGACCTGGAAGAGGACAAACGGG MLLQPAPCAPSAGFPRPLAAPGAMHGSQKDTTFTKIFVGGLPYHTTDASLRKYFEGFGDIEEAVVITDRQTGKSRGYGFvsgprarartpphtlsrp|mqwvl* 18BR017 ENSG00000136449.15 ENSG00000250107.1 +/- -/- chr17:50518650 chr17:50557458 CDS exon/splice-site duplication/3'-3' 4 0 0 55 28 medium . . . . . ENSG00000136449.15 ENSG00000250107.1 . ENST00000505793.1 upstream downstream . GATTTCAGGATCCACTGAAGCTTCAGA___...CCGGGCGGGAGCCCTGTCTGCTCTGCTCACCGCTGAGGGCTTCCTGCTGCTTCTTCCGCAGGGCTGTGTTACGCTGCCAGTTTTTCAGAAAGTTGTGCTGAGGAG|AATCCCATCATCGCGTGCACATCTCATCCCAGGAGGGAGAGAGGAGCTGCCGAGTAGAAAGCAGACTGGCTGCAGGGACAGAAGACACCAAGGGCACCCTCCCC(CACAGCTGCGCCTGGACCTCCTGCGAGAAGAGGAAGCCTTAGGGGTCTTTATTGTACCCTCAAGACCCCAGAGAGAAACAGAAGTGCTGAGGGGTCGCAGGCAGGTCTCTTACCCTCTCTGGGCCTCGAATATTTATCCATAGGAGGCTGAAGGTAACTGCCTTCGCAACTCATTCATGAGGGTCAATGGGACGACAGTGGCAAGAGGGGTTGGCACACTGCCCAGACTGTTCCAAAGCCAGGGCTGGGGCTGCCAAAAAGGCCACCTGTGCTTCACCATGCTCCATCCTCCCTCTCTTCCACCTCCCCAGGCTGGGCTCCACTTGTCCAGCTCTCTGACTTCCTGGCAAGGTTGAGTAGGCTCCAGCTAGGAAGGGGCCAGCTGACCTTGTTGGCCGGAGCACTAATCCCCTCCAGATGGGCTGGTGGCTTGCACTGAGGGCCTGGCTGCCCAGACAGAGCTGACTCTGGTCCCAGTGACCATGTGTGGCTATGTGTGACCGTGTGAAGGGAGCAATTCCATCCAGTCTCCCGGTTCCTTCCTGCTTCACTCCTCCCCACTGCTGACATCCCCCACAAGCAGTGGCCCCATGAAGGCCTTCTTGTCTCTAGTAGCCTCTTTTGGCTCTCTGTGTTGCTTAGCTGGAGGGCTGAGGATGCCTGGCACAGCCGATTCCCAAAGGCCTCAGAGGGACAGCTCCTCCCCCTGCTTCCCCCACCCCGTCAGCCCCATCACTCTGCACCTGCCCTTCCCAAAGCATGTGTCCCAGTCCCCATCCCTCAACCCAAGGAAGATGTATGTGTCAAGGACAGGACTCAGGAGCATTTCCCAACATTTAGGGGAAAGGATGAGGTCACAGGAAGGCTTTCTCTGCAGCAAGAAGGACTCAGATAGATTTGGGGAAGGACTTCCAACCCAACAGATGTTCCAAACGAAAGAGAACTCTTTCTTTGGACCAGCTTGTATGAAAGCAGACAAATGGACAACATGACCTCCTGCAAGGAGGCCCTGCTTCCATCCTTTCGAGGCTGGGGCTAGATGGATACCCCAAAAGAAATGTCTTAGTCGTGACAATAGCAGCTCCCACAATGCACCAGGGCATATGCAAAGTCACCATTCTGTGAAATATAAAAGCTCATATAAAGCA)$ . 18BR017 ENSG00000137478.15 ENSG00000214226.9 -/- -/- chr11:73140031 chr17:56795180 CDS/splice-site CDS/splice-site translocation 0 3 0 38 5 medium out-of-frame . Fes/CIP4__and_EFC/F-BAR_homology_domain(100%)| . . ENSG00000137478.15 ENSG00000214226.9 ENST00000409418.9 ENST00000397861.7 upstream downstream . ^(AGCGAGGGCCGGGCCGCCTGAGTGGGTGGGGTGGGGGCCGCTGCGTCCGCCGGGAGCGGCGGCGCAGGCGGCCGACCGGGAGCGCGGACAACGCGGCTGCGGCTAACCCGCCGCCCGGCCGGCTGAGACCCTCGCGCCCCTGCTCCTGGGGCCCCCGCCCCCTCGCCGTCTCCGCCTCCTTCCTCACACACCCCCGGGCCGCCCGGGCCGCCCGGGCCCCAAGCCTTCCCGGTGCTCCTCCCTCGTCTCCTCACACTCGCTCTCTGGCTGGGGTCCGCCTGCCGCCCGCTGGCCTGCTCCCTCCGGGGCAAGTCTTGCTTCTTAAGCGCTCCTTTCACACACGCGCGCGCTCGCTGGGCCGTCCCCTCCTCTCCGGCCCTCCTCCTCCTCCTGGTCCTTGCTAACGCTGCCGTCGGGGAGGATTGATGTCCCTTCAGCATCATGCAGCCGCCGCCGAGGAAG___GTGAAAGTTACACAAGAACTGAAAAACATTCAAGTTGA)GCAGATGACAAAACTTCAAGCCAAACATCAAGCAGAATGTGATTTGCTTGAAGATATGAG|GAATACATGCACCACCTGCTCGCCCTGGAGCATCGCGCTGAGGAGCAGTTCCTGGAGCACTGGCTGAACCCTCACTGCAAACCCCACTGTGACAGGAACAGGATTCATCCTGTGTAAGGGGATCAGGACCAGCCTCG___CAAGCATTTTAATAGACAACAAGCTGG(ATAATGTCGAAGCAAGACAAGGCTGCTTCTTTCACTTGTTTTTAAATTGCAGAAATGGATGTCTTCAGACCTCGTGAACTGTGGGCATATCAAAGATTGCCTTGGAAATGGCAAATATATATACTGCTTCATTTTACTAACCTGCATAGATCACTAAAACCAATAGCTTAAAGCATAGACACCTCCCAAAGGTCTTCCCATCAGTTTGCAAGAGTGGGAACAACCAGAATCTTACCTGGGGTTGATGGAGCTGGAACTCCCAGACCAGGAGTTGGGGCAGGCTGCCTGCCCTAAGGAATTTGGGGAATCCTTGTTCAGAGTAGTGAAGCATACCACTTGGGGTTGCTGAGTTGTTTTGTCCTCTATTTTTTTCCTCTTCTTTTCTGCCCTAATAAACATTGGTATTAAATTTA)$ MQPPPRKVKVTQELKNIQVEQMTKLQAKHQAECDLLEDMr|ntcttcspwsialrssswstg* 18BR017 ENSG00000148429.14 ENSG00000233117.4 -/- -/- chr10:11481770 chr10:4243687 CDS/splice-site exon/splice-site deletion 3 0 0 163 39 medium out-of-frame . Rab-GTPase-TBC_domain(100%)| . . ENSG00000148429.14 ENSG00000233117.4 ENST00000609104.5 ENST00000608792.1 upstream downstream . ^(CGGCCGCTGCGGTGACGGTTGGCGGCGGCCGGTGAGGCGGGCGGGGCCGGAGGCGCGGAGGCGGGGTCCCGGGCGAGCCGCCCTGGGAGGCGGGGGCCGTTTCCATAGCGGCGGCAGGAGGTGTCGCGCCGGGGAACTTCCTGGTTCCCGGGCTCGGCTTCGCCGGGATCCTCTTGGAAGGGAAACAATGGGGCGGAGGGCACTGCGGTAGCCGCCGCCGCCGCCGCGCCGCGCCGCGCCGGATCTGCTCGGCCGCCCGGGACCGCCAGCTCTGTCCGCTGCCCACAGCCTAGCAGTCGGGACCGTACTGAG___GACATGTATTCCTCTGAGAAACCTTGGACAGCAGATTTTGGTTTAATATCTGATTGGGACAACATTCAGACCCATTTCCAGTCATGA___ATTCAGACCAGGATGTAGCACTCAAACTTGCCCAGGAGCGAGCTGAAATAGTTGCTAAATATGACAGA___GGACGAGAAGGTGCAGAGATTGAACCTTGGGAAGATGCTGATTACCTTGTTTACAAAGTCACAGATAGATTTGGCTTTTTACA___TGAGGAGGAGCTCCCAGATCATAATGTGGCTGTGGAACGG___CAAAAGCACCTGGAAATTGAAAGAACTACCAAATGGCTGAAAATGCTGAAAGGATGGGAAAAATACAAGAACACTGAAAAG___TTTCATAGGCGAATTTACAAAGGAATACCACTCCAGCTCAGAGGTGAAGTCTGGGCCCTCCTTCTTGAGATCCCTAAAATGAAAGAAGAAACAAGGGACCTGTATAGT___AAATTAAAACACAGAGCACGGGGCTGTTCACCTGACATCAGACAAATAGACCTGGATGTCAACCGCACATTTCGGGACCACATTATGTTTAGAGACAGATATGGTGTTAA___GCAACAATCCTTATTCCATGTGCTTGCTGCCTATTCTATTTATAACACG___GAAGTCGGGTATTGTCAGGGGATGAGCCAGATCACAGCTTTACTCCTCATGTATATGAACGAGGAAGATGCCTTCTGGGCCCTGGTCAAACTCTTCTCAGGCCCTAAACATGCCATGCATG___GCTTTTTTGTCCAAGGTTTTCCTAAACTCTTGAGGTTTCAAGAACATCATGAAAAAATACTGAACAAATTTCTGTCCAAGCTTAAGCAACACTTG___GATTCTCAAGAAATCTACACAAGTTTTTACACAATGAAATGGTTTTTTCAGTGTTTCCTTGATCGT___ACTCCCTTTACACTAAACCTCAGAATATGGGATATCTACATCTTTGAAGGAGAACGAGTTCTTACT)GCTATGTCTTACACCATCTTAAAATTACACAAAA___AACATCTAATGAAATTGTCCATGGAAGAACTTGTAGAATTTTTTCAGGAGACCCTGGCAAAGGATTTTTTCTTTGAAGATGATTTTGTGATAGAGCAACTTCAGATTTCTATGACAGAACTAAAGCGGGCAAAGTTAGACCTTCCAGAACCTG|TGTCTTACCAAGAATGAAAGGCAACCTATGTAAAAACTATGGGCTTTCTAGTATAAATAAAAACTACTCATCTCCAGAAAATAAAC(AATGACTGCTAAGATGATTGAAAAAAGAAAGGAGAAGAAAGTAGCTTGTAAAAGCGTGTGAAATGCATTCACGTTGGAATCTCCTACAGGCACTTCAG___AAGACGAAGTGCTCCTGATGGCTGCTTTCAATCACTGGAAGAACCATGAAAGTGCGAGAGATTCCTCCCGGTGAATGAAGCCAGCTCACCACCGTCAAGGGCAAGGGATCAGCGTGTGTTCACATGGAGGCCTCTCACCGAGGGAACCCAAGGGGGACAGCACAGGAATTGCAGAGCCAGCACCCATGGAATGGGCAGGGATTTGGGTTTCATCCAACCAGCCAGTTGATCAATAATCACTGAATGTCTGTCACCCATTGCATCCTCTCCTGAGTAGTGAGGCTAGGCCAGTGCCAGTCACCTGGAAATCCTTACTGTTCTGCAGTTGACATTTTGAGAGGCAAGTCAAACAATATATATAAACAACTAGAATGTCTAGTGTGTTTCAGGAGGTAAATGCCGTGCCGGGATGAGCAGAAGGAGGATGGAGCCGTTGCTGGGCAGATAGACTGATTTTAGATAAAGCCGTCTGGGTGCAGGAAAGAAGACCTTAAAGAGGGAATGACATTTGAGCAAAGTCTTCAACAAACTGAACCCAGGAAGAAAACATTCCGAAAGTCAGAGAAAAGAGGAAGTACGAAGGGCCAGAGCCAGGGAGGACATTGGCGGAGATGCAGCCGCAGAAGCGTCAGGGGCCCTGCAGCCGCGATGCAAACAGAGAAGTGGGCGCATGGAGCATACGGGGCAGAGAACCAGCACCATCTGAATACACTGCTTAGGCTGTTGGGGCCATGGCTTCTCTCGATACCAAATAGGAGGCTGTGGACATCATCTTGGCAGGAAACGACAGTGGCTAGGACCACAGTAGTCACCGTAGAGATGGAGAGAAGTGGCCAGATCATAGATACATTTTGAAGATTAAGCGGACAGAATTTGCTATGGATTAGATGTGGGTGAAACAGAGAGAGAGAGAGAGGATAGCTCCAACATGTGCTGTCTGAGCAGCTAAAGGGGTGGAGCAGGATGAATAAAGTAAAGAAAAGATTGAAATGGAGACGAAGGGCCACTGTAAGTGAGACATCCAGACGCAGCCCAATACTCCCAGGGGAGCTTGCTTACGGCAGATTCCAGTCACAAGAAGCACCAAAAATGTCTCCTCTTTCATTTATACATGACGCAAAATCAAGAGGATAAGCTGCTCCAATTTGAAAGCCACACGTTCCTTTAAGGGCAGGGCTGGGCGAATGGGTTCAACCCTGACTGCTCTCCACCGTCCATGCAGGACCACAGCCTAGGGTGAAGGGGGCCCTTCTCTGGGTGTTGCTGGGAGGGAGAAATATTCCTGAGATGAGCTTAAGACACAGCACTTCTCCCCTGTGGTGTGAGAGCCACTGTGCCTACAAGGACACTCACAGAAGCTGTCATTTGGGATTCGCTGCCAAGAGCAGAGCACGGCTGTTGATGCGTCGAAACTGAAAAGCCTTCTTCAGCTGGGTGGGCAAGACGGCTGTCTATGGAGACCCTCCTGAGTACAGATGCACCTGCTTTTAGCCTCACATAGACGGGGGCTCTTTAGGACTGTGGGCTGACCCTGAGAAGAAGCCCCATGGAAGCCTGCTTATCTCCAAATCCCCCGTCCTTTCTCCTGAAAGACAGTCTCAGTGAGTGAAGTTCTAGCATTATAGATTTGTTCCTTTGTAAGTCTGACAGGATTTATGGTTTGCAAACATTTTTTATGAGAATGAAAATTACTTTGGGAAAAGTCATTCATTTACCACCCTTACTAGTCCTTCCATAGGAACTGATTTCCTATACGAGCTTGAGACATATTTGGAATTGGGCAAATTCCTGCAGAGGGTAAGAGGACCAGGAACAATGAAAAAGTGTGGCTGTCCATGCAGGTAAAAGGGCCCCACAGGCTCATGTGAATTACTTTATTTAACAGCATCCTCTGCTGTTGCTGAGGAGAGAGGAGTGGCCCTGGCTTCTCAGTCATATTTTCCAGCCCTGACTTGTTTACCTGTCTCCAAGAATTGACCCAAAGTAACACCTTTAAAATGGAATTTATTCTCTCCTCTATTTTAAATAACACCTGGATGAATGAGAGTCTTTACAACAGATACGACTAGAAGGAGAGACGCTAGGAAACACAGAGGGAAACATGGGTCATTTGCATCTGCAGCTGTGTGTGTGGCAGCTCAACACTGGAAGCTAAGTTTTCCTATTCAGGAAGATGAAGCTCTCGGTGTCTGTGCCCCATCCCATGCCCCTGGCTACCTATTCACATCCGGGGCCAATTAGTGCTGTTGAATTTATTCCAAAATCCTCAGGCAAAATAGAACTCTTTTTGATTACCTTGGAGTTGACTTCTCCCTAGTTCCTCTCCACAATGATTTCTTGCTTTTCACCGAAACTCTTTGAGAAGTTCTATTTTTTTGTCATTGGTCAGAGCAGCATTTTATTTTGCATTTCAATTCAATTTTTAGTGATGGATTTTGGATTTTTATGTTCACCTGCCAACTACTTTAACCCAGAAAATAGCAGCATTGAGCAGTTCCTGACGTAGCGGAGGTCTACCAGTTGTCATACAGTATCAGCTGCCATTACCCCTTCTGTTGTGTGGTCCTGAGACTGGTGTGCACCTTCACAGCTCAAGGGTCAGTGGTTGCTGCAGGCAATTCTGCTGTTGGATAAATGCTTAGCCCTTTGAGCTTTACATATTTTTAACAGAAGATCAAAGAAGCTGAAAGAGTGATGGAAATTAAACTGGTCTTATCTATCTATATTTTAATGACTGACTTGGCATCCTAGTGTGGTAGCAAGAACTTTGGACTGAAAAAAATATCACTTCACAGCTGTTCGGCTGTGTGACCTGAAGCTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTGTTATTGCCCGGGCTGGAGTGCAATGGCACAATCTTGACTCGCCACAAACTCCACTTCCCGGGTTTAAGCACTTCTGCCTCAGCCTCCCGAGCAGCTGTGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTGTATTTTTAACAGAGTCAGGGTTTCTCCATGTTGGTGAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGACCAACCTGAAGCAATTTAAGTGGACTTTCAAATTTTCAATTTTCCCATTGGGAAAGTGTAAGTTTTGGGAAAAGTCAGTAGTTTTTACATTCTTTTGTTCTGATGACGCTTTTTTGTAAAATCCACATGTGGAAGCCATTAGATCATTTTGTGGGGCACAGTTTGAAGACCACAGGACTTCATGATTTCTGAGATCTACCCATTCTTCCAATCCCAGCTTCCAGCATCCTCTGGGTACATCAGAACCTCCCAGTAAAAGGATGGTGTTGGCAGCTGTCCTGGAAATGCTCAGCCTCGCTGGGAATGGGTCCCCTCTTACTTGCTGGGTGACCGTGAGCATGTTGATCCCACCTCAGAGCCCCCGCTTCCTCCTCCTCTATAAATAGGACCATGGATAGTAGCTTGGAGAATTCAATAAAATATAGTGTGCTGAACACTCAGCACGTGCACTAGGAAGAACCAAAAATGAGCAGAACCCTCACTGATATTTAATGTCCCCTAATTTGTCAAGGGACATTATATTGCATAAGATTTGCTTTAAAGAAAGTAAATTCCTTTCAGGCAAGTTGTTTGAGTCACCAATAGGTTTAAATCAAAGGAAGTTTTTGTCCTCACGATTTTGCATTTTTTAGTGCCTTTCCACAACAAATGTATAAAAGGAGCATTATTTTTAAGTGTAACTATTTTGGAAACTTCTTACTTAAAAGCAATTTTCTACTACAAGTCAAAGGATTAAAGCAAAAAAAAAAGGTGAATCTGCAGCAGCATATATTGTATATGTTTTCTAGAAATACTTTTTTAAAGAAGGCAGAGAACCCTAAGCTAAAAGCAGAATTTAAATTTCTAGCATTCATTCAGCAGCTGTCTCTATAAGGAGACAGGGTTGAATTGTGTCCAAGTCAAGCATCAGATTTCCAGGGAAAGCAGAGGAGAAATTAGAAAGTGTGCAGGAAGCAGCAGAAATGGCTGTTAAAAGGTGATAGCCTTCTAAAATTGACAAGACTTCTTGGGTCAGATAACAGATCCAAGGGCTAGAGGTCTGAATTCAGGCATGGTCGGGGGAGGAGGAGGGGGAAGTGTACAGAAAAAGTGGGTCAGTGCCAAGGGCATCTCAGCCTGTTTGGAGGAATTCAAAATCATTTAGGTAAAGGGTTAGAGGTCAGAAAAAATGATCAGCACAGCAGTGAGGGGTCATTGGGACGTCCTTGGATGGAAGTCCTTCAACCCAGCAGTGTTGCAAGGCCTCAGGTTCCCGGTACCTGTCAGTTTTTGCAGCTCGAGGAGGACAGCCTGGGATCTCAAGCTTATGTTTCATAAAGTTGCCATCCTAAGCTTTGGCATGACAAAGTCTCTCTCCTTGACAACGTTCCTTAGGGCCTTCTCAGCCCTTTTCTCAATGAGGATTCCACGTTGGCTCCCATCCTCGCTGGGCCTGCATACCTCCTTTTCAGCAAGAATCCTGCTGAGGCAGTTTCACAAGAACTTCCCACCCTTAATGCCTGATCATCACAGGCATCCTATCAAATTTCATACCCCTTTCTTTGATGCCTTATCACCTTGGCCTGCCTTCAGCAAGGATTTGTTGTTATTTTGGTTGTCATTTGTTTGTTTGTTTGTTTTATTGAAACAAGGCAGATTCTAGGCTTTATGATTAAACTCTAAACTAATCCACAGGCTGAGGGCCAGATATTCTCTCACCACAAAGCATGAGCACATATAAGTTCAGTCCCATGCCACAAACATCTGTGGCCCTTTCAAGCCAGATGTGAAATCACATCCTGACCAAAAATACAATTTTTTTAATGTGACGTTTTCGAGTGCTTTTAAGATTTTATCTGTACCTACCATGACATTCATCATTTAATCAGTCTCACTCTGCCAACTCAAGGCGACTGTATATCATGCTTTTTAAAACCATCGAACATGCTACAATGCCCAAAACACATCCAGATTGTTATTGCATTGGGTCATTGCATAATCTTTCTGGCTTCGCGCCGCTGCCTCCTAAACTTCCCCAGCCACCAGCACAATCTCTCCAGGAGCACTATACTGTCCCTGAAAGCTCCTCACCCCATCCCTGGAGGGCAGTTCCTGCTCCCCAAATAGCTCGAGCCTCCTTGCTTGTCCCCTTTAATCCCCCAGTGCTTGGGGTACCCATATATTGACAACGGGTGTTAAGAAACAATGTCATCTAAAACCCCTTCCAGATGCAATTACATTTTAACTCAATGGGAAATGGCTTGTCATACACTTCACGAGGAATATGAATGTTGGCATTTTAGGAAACTGCAGCCAGTGAATATGAAAGAGATGCTGCCCAAAGGGCTGGTCATCCAGGGTGCCACCTGCCAACCTTGTGGTACGAGTGTCCTGGGCTGGAGGAAACCTGCCTCTCCAGGGACATGGGAAAAGAACTCATCATGGGAAAAAGAACCATCTTCTGCCTCAAAGACAGCATGGTTATGTAGGAAGATTGAGAAGAGTAAATAGCTCCAAAAGAAAAAACAAAGTAAAACAGAACACCAAGTAGGAGAATATCAACTGTAAGTATACGCCAAAGTGAATTAAAATCCACCATGGAGAAGAACACGCATGCTGAGAGGGGCTCTCTCCTTGGCTCTGCCGTCCTGAAGGCAGTGTGGGGAGAGAAGGAGCTGGCTTTTGATAGCAATACGGACACTCTGGGAGCTGTGCTGAATGTTTCATACTTTCCTTAATGTAATTTCCACAGCATCACCACAATCATTACTGTCTCTGCTGTACATGGGGAAAAGCTTGAGTTAACAGAAGTTAAACAATTCACCAGTGATCACACTTACATGAAAAAGCCAGGTATTCTATCTGTCTGATAACTTGAGCCTGGCCATTACATTCAGTTCTGCTGTCTTTAAAATAAAAACCCTGGATTAAGTCA)$ MNSDQDVALKLAQERAEIVAKYDRGREGAEIEPWEDADYLVYKVTDRFGFLHEEELPDHNVAVERQKHLEIERTTKWLKMLKGWEKYKNTEKFHRRIYKGIPLQLRGEVWALLLEIPKMKEETRDLYSKLKHRARGCSPDIRQIDLDVNRTFRDHIMFRDRYGVKQQSLFHVLAAYSIYNTEVGYCQGMSQITALLLMYMNEEDAFWALVKLFSGPKHAMHGFFVQGFPKLLRFQEHHEKILNKFLSKLKQHLDSQEIYTSFYTMKWFFQCFLDRTPFTLNLRIWDIYIFEGERVLTAMSYTILKLHKKHLMKLSMEELVEFFQETLAKDFFFEDDFVIEQLQISMTELKRAKLDLPEP|vsyqe* 18BR017 ENSG00000130706.13 ENSG00000230352.1(1185),ENSG00000286309.1(29538) +/- ./- chr20:62307894 chr20:59365958 intron intergenic deletion 2 1 0 15 3 medium . . . . . ENSG00000130706.13 . . . upstream downstream . ATTATCTCCGGCGTCAGCACACTGGCCAGGTCCACTGGGGCACAAGAACACGGCCATCAGCTCGATGACAGCCTAAGTGCCCACATGGAAGGCATGCAAGCAGGGACTCAGCCCATGGCCCCAGCACCCCAGGCGCGCACACTAGGCAGATGCCTTGGAAG|CTGAACAACCTCTTGGGGTAATGAGTTTCCATAACAACTAATGGGTGGCCAGCGTGCTTCCGCCCTGGGCTGGGGACCGCGTGCTCTTTGATTCGCATCAGCAGCGGCTGATGGCCCCTCAAGTGGTTCCTGTTTGCTG . 18BR017 ENSG00000204519.11 ENSG00000171487.15 +/+ +/+ chr19:57682244 chr19:56061396 CDS/splice-site CDS/splice-site duplication 2 0 0 18 0 medium out-of-frame . . . . ENSG00000204519.11 ENSG00000171487.15 ENST00000282296.10 ENST00000390649.8 downstream upstream . ^(GGAACTTCCGGCGTCCTCCTCGTGGCGGTCATTTTGGCCTCTGTCCT)GTTTGTCCAGCCCGCCAGTTTCTGCAGTGGAGGTCGCGACTGAGGGACGGGACAGAGAAGTCGCGAAAGTGGGCCAGAGGTTCTGCGACACCACCTCGGGTGAGCTGCGCCAGGCCCGGGATAGGGACTGTTGTGTTCGAATGCCCGCCCCGGTCGGCCGCCGCTCCCCGCCTAGTCCACGGAGCTCAATGGCGGCAGTCGCGCTGAGGGACTCGGCTCAG|GCTGTGGAAATGGCAGTACCCTGTGCAAATAAGGAAGCTGCTGGAGGAAGTGCAGCTACTCAAGCCCCGAGTCGTAATTGACGGTAGTTG(GCATTCTTTTGATGAAGATGACCGGTACTGGTGGAAAAACTGAAGATACGGAAACCTGCCCCACTCACACCCATCTGATGGAGGAACTTTAAACGCTGTTTTCTCAGAGCAAGCTATGCACCTGGGAGTTCCTTCTCAAAGATGGAGAATGATTTCTGATTCTCACAAAGCCCTCAATGGTAGTGATTCTTCTGTGTTCACTCTACGTTGGTTACTGGATTTGAAGGCTAGAGACCTTCAAGTCATAGGACTCAGTATCTGTGAAATGTCCGTCATATCTCAGAGCATATAGAGGGAATTAAATAAACACAAAGCATTTGGAAAA)$ MPAPVGRRSPPSPRSSMAAVALRDSAQ|avemavpcankeaaggsaatqapsrn* 18BR017 ENSG00000115825.10 ENSG00000131096.10 -/- -/- chr2:37252523 chr17:44000978 3'UTR intron translocation 0 1 1 28 1 medium stop-codon . PH_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_domain(100%)|Pancreatic_hormone_peptide(100%) . . ENSG00000115825.10 ENSG00000131096.10 ENST00000379066.5 . upstream downstream . ^(CTTTGTGGTCTACAGCCACACCACCCCAAATGTGCCTGATCTTGTCTGATCTTGGAAGCTAAGCATTGTTGGGCCTAGTTAGGACCTGGATAGGAGAAATCCCTTATG___GCTAACTATATGTCAGAAAGCATCAGCTTTTCTCGATGGACCCATTCATCTAATGAAATATGCCTGTACTATTTTAAAAAGCTTTGTATTTCGTCATAGAAAAGTTCATCCCCCCAGAATGAAAATGAGGACATTTGAGAAGGTGATTTAAGGTGTGGACATTTGAGAAGGTGTCCTATCAAATTAGTAAACCAAAGGAAAAGTACTGAATAGATTAATCCAAAACACTTACTGTTTTTTAAACGAAGAGGATTTCACCTTGACAGAAAAACAACTTTTATTCAATATGTATTTCCTGAAATTAAAGAGACAAGTACAGACTGAAAGGAAAATAGATTCGTAAATAAGCTACGTCAACTCTATCCTGCTGAGGATAGCTCAGTGATGTTAAATCCTTTACAAATCCCTGGTTGTCTTCCTACAGACAAGACTGCTTTTTGATGGGACTGATATTAAGAGAAATAGGACCTTTGGGGCATTCAACTCCTTGATAAAACTTAAAAGTATCGGCATGAGTGGCTTAACAGAGGAAATAAAGAAGTTTTCAACTAAATCCAAAAGTGCGGTCATTTTCTTTACTGCTGTTATTTTAAAAACCTCTTCATAACCATTGAAAAAGAATCGACAACTATTTTAAAAGATTAAAGAAAGGCAGATGTCTGCAAATAATTCCCCTCCATCAGCCCAGAAGTCTGTATTACCCACAGCTATTCCTGCTGTGCTTCCAGCTGCTTCTCCGTGTTCAAGTCCTAAGACGGGACTCTCTGCCCGACTCTCTAATGGAAGCTTCAGTGCACCATCACTCACCAACTCCAGAGGCTCAGTGCATACAGTTTCATTTCTACTGCAAATTGGCCTCACACGGGAGAGTGTTACCATTGAAGCCCAGGAACTGTCTTTATCTGCTGTCAAGGATCTTGTGTGCTCCATAGTTTATCAAAAG___TTTCCAGAGTGTGGATTCTTTGGCATGTATGACAAAATTCTTCTCTTTCGCCATGACATGAACTCAGAAAACATTTTGCAGCTGATTACCTCAGCAGATGAAATACATGAAGGAGACCTAGTGGAAGTGGTTCTTTCAG___CTTTAGCCACAGTAGAAGACTTCCAGATTCGTCCACATACTCTCTATGTACATTCTTACAAAGCTCCTACTTTCTGTGATTACTGTGGTGAGATGCTCTGGGGATTGGTACGTCAAGGACTGAAATGTGAAG___GCTGTGGATTAAATTACCATAAACGATGTGCCTTCAAGATTCCAAATAACTGTAGTGGAGTAAGAAAGAGACGTCTGTCAAATGTATCTTTACCAGGACCCGGCCTCTCAGTTCCAAGACCCCTACAGCCTGAATATGTAGCCCTTCCCAGTGAAGAG___TCACATGTCCACCAGGAACCAAGTAAGAGAATTCCTTCTTGGAGTGGTCGCCCAATCTGGATGGAAAAGATGGTAATGTGCAGAGTGAAAGTTCCACACACATTTGCTGTTCACTCTTACACCCGTCCCACGATATGTCAGTACTGCAAGCGGTTACTGAAAGGCCTCTTTCGCCAAGGAATGCAGTGTAAAG___ATTGCAAATTCAACTGCCATAAACGCTGTGCATCAAAAGTACCAAGAGACTGCCTTGGAGAGGTTACTTTCAATGGAG___AACCTTCCAGTCTGGGAACAGATACAGATATACCAATGGATATTGACAATAATGACATAAATAGTGATAGTAGTCGGGGTTTGGATGACACAGAAGAGCCATCACCCCCAGAAGATAAGATGTTCTTCTTGGATCCATCTGATCTCGATGTGGAAAGAGATGAAGAAGCCGTTAAAACAATCAG___TCCATCAACAAGCAATAATATTCCGCTAATGAGGGTTGTACAATCCATCAAGCACACAAAGAGGAAGAGCAGCACAATGGTGAAGGAAGGGTGGATGGTCCATTACACCAGCAGGGATAACCTG___AGAAAGAGGCATTATTGGAGACTTGACAGCAAATGTCTAACATTATTTCAGAATGAATCTGGATCAAAGTATTATAAG___GAAATTCCACTTTCAGAAATTCTCCGCATATCTTCACCACGAGATTTCACAAACATTTCACAAGGCAGCAATCCACACTGTTTTGAAATCATTACTGATACTATGGTATACTTCGTTGGTGAGAACAATGGGGACAGCTCTCATAATCCTGTTCTTGCTGCCACTGGAGTTGGACTTGATGTAGCACAGAGCTGGGAAAAAGCAATTCGCCAAGCCCTCATGCCTGTTACTCCTCAAGCAAGTGTTTGCACTTCTCCAGGGCAAGGGAAAGATCACA___AAGATTTGTCTACAAGTATCTCTGTATCTAATTGTCAGATTCAGGAGAATGTG___GATATCAGTACTGTTTACCAGATCTTTGCAGATGAGGTGCTTGGTTCAGGCCAGTTTGGCATCGTTTATGGAG___GAAAACATAGAAAGACTGGGAGGGATGTGGCTATTAAAGTAATTGATAAGATGAGATTCCCCACAAAACAAGAAAGTCAACTCCGTAATGAAGTGGCTATTTTACAG___AATTTGCACCATCCTGGGATTGTAAACCTGGAATGTATGTTTGAAACCCCAGAACGAGTCTTTGTAGTAATGGAAAAGCTGCATGGAGATATGTTGGAAATGATTCTATCCAGTGAGAAAAGTCGGCTTCCAGAACGAATTACTAAATTCATGGTCACACAG___ATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAG___GTGAAGCTGTGTGACTTTGGATTTGCACGCATCATTGGTGAAAAGTCATTCAGGAGATCTGTGGTAGGAACTCCAGCATACTTAGCCCCTGAAGTTCTCCGGAGCAAAGGTTACAACCGTTCCCTAGATATGTGGTCAGTGGGAGTTATCATCTATGTGAGCCTCAGTGGCACATTTCCTTTTAATGAGGATGAAGATATAAATGACCAAATCCAAAATGCTGCATTTATGTACCCACCAAATCCATGGAGAGAAATTTCTGGTGAAG___CAATTGATCTGATAAACAATCTGCTTCAAGTGAAGATGAGAAAACGTTACAGTGTTGACAAATCTCTTAGTCATCCCTGGCTACAG___GACTATCAGACTTGGCTTGACCTTAGAGAATTTGAAACTCGCATTGGAGAACGTTACATTACACATGAAAGTGATGATGCTCGCTGGGAAATACATGCATACACACATAACCTTGTATACCCAAAGCACTTCATTATGGCTCCTAATCCAGATGATATGGAAGAAGATCCTTAATCACTGAGCTAACCTAAATAAGGAAGGATTTCATTTTATGGACTGATATTTTGCTGTGTAACTTGTTCTTTGTAGATTGTCATCTGCAGTGCTGCAAAGATATGAAGAAATATGATAACGAATAAGTGACACCAGTACTGTAGTTCATAATGAGTAGGTACAGGCGGGAAACTGAATAATAAGAAGTCATAATGGAATCAAGGTGAAGCTTTTTATAAACTTTTTTAGCCTAAGCAATAACTGGTTTTGTATTTTTTCTTAATCCTTCACTTTAATACAATAGGCTCACTTAATTTGTCTTCCCATTTCTCTTTATATATATATATATAAATATAAATATATGTTTGTTTGTTTTTTTAATGAAAAACAAGTCAAGCTAGCATCCAGTTACTATATAGCTTGGCTAAATTATACAAGACTTACAAGATTGATTACTCGACAGGCTTGTATTTAAGAGGTAACTGTGAGGTTACCATTATGTGATGTTACTATAAGGACTTTTAACATTGGTTTAACAAACCATAGAGGCATTGAAGGGTTTTTCTTAGATGCCTAGAAAAA)GCGCACTGGGCTGTTTTACCTTTCTTTTTTAGGTCAATCAAGACTCCAAAATAGTGATTCCTAACCTTTTTGGAGTTGCTCTGCTACTCTGAA|CACCAGCCACAGTCACACAGACACTCATCTGTACGTAGAGGAATGCCCCTGTACACCATACAGGTGTACAGAGGTACACAGATCCACTCATACACGTTTGGATACAGAATTGTGCACTCACATAGGC . 18BR019 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 9 9 0 55 27 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___)GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 18BR019 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 12 5 0 124 48 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1),low_entropy(1),mismatches(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAA)AAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA...AGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTAATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAAGCCTCTATAGCTTGGCCTGTCTTCGTAGGAAACCCTGGC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 18BR019 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 14 0 23 88 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream mismappers(1) AGCGGAGCAACCGGGACCTGTGGGTCGGGGTCCTCTGGCGGAGTTAAAAAAAAAAGAGGTGAAACTGCGGGACCGGCGCTGCGAGTCGCTAGGCTTCGCCTCAAACTTTGgTGTTGCAGCGGAGCGGCCCCGCCCCTCCTCTCCCCTAC...GCCCACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTC(ATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 18BR019 ENSG00000275036.1(13511),ENSG00000282996.1(439) ENSG00000150054.18 ./- -/- chr10:28302861 chr10:28238735 intergenic 5'UTR/splice-site deletion/read-through 6 7 0 15 21 high . . |Guanylate_kinase(100%),L27_domain(100%),PDZ_domain_(Also_known_as_DHR_or_GLGF)(100%),Variant_SH3_domain(100%) . . . ENSG00000150054.18 . ENST00000375732.5 upstream downstream low_entropy(4) CGTGCGTTCTGCGCCCGCCGCGGCGGTGCCGAGCCCGCTGGCTCCCGATTGTCCTCTGCGGCGGTGGCGGTCGCTGCCTCCTTGCCTCCGGGCCCGGGGCTGCAGGGGCCAGAGCGAGTGCGCCTCCTGCCCGCGGACCGCGGCAGCCCAGAGCAG|AAACGGCTTACAAAATATACAGATCTTGGTAGACAACGTGGCTGCAGGCTGTTGAATTGGAATTCCCTGTGGCTGTCCGAAGGCAGGGTGTCCGGAGAGCGGTGGGCTGACCTGTTCCTACACCTTGCATCATGCCAGCTTTGTCAACGGGATCTGGGAGTGACACTG___GTCTGTATGAGCTGTTGGCTGCTCTGCCAGCCCAGCTGCAGCCACATGTGGA(TAGCCAGGAAGACCTGACCTTCCTCTGGGATATGTTTGGTGAAAAAAGCCTGCATTCATTGGTAAAG___ATTCATGAAAAACTACACTACTATGAGAAGCAGAGTCCGGTGCCCATTCTCCATGGTGCGGCGGCCTTGGCCGATGAT___CTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAG___GCTTTGCTCTCTGTACATGATACTGTGGCTCAGAAGAATTACGACCCAGTGTTGCCTCCTATGCCTGAAGATATTGACGATGAGGAAGACTCAGTAAAAATAATCCGTCTGGTCAAAAATAGAGAACCACTG___GGAGCTACCATTAAGAAGGATGAACAGACCGGGGCGATCATTGTGGCCAGAATCATGAGAGGAGGAGCTGCAGATAGAAGTG___GTCTTATTCATGTTGGTGATGAACTTAGGGAAGTCAACGGGATACCAGTGGAGGATAAAAGGCCTGAGGAAATAATACAGATTTTG___GCTCAGTCTCAGGGAGCAATTACATTTAAGATTATACCCGGCAGCAAAGAGGAGACACCATCAAAAGAAGGCAAG___ATGTTTATCAAAGCCCTCTTTGACTATAATCCTAATGAGGATAAGGCAATTCCATGTAAGGAAGCTGGGCTTTCTTTCAAAAAGGGAGATATTCTTCAGATTATGAGCCAAGATGATGCAACTTGGTGGCAAGCGAAACACGAAGCTGATGCCAACCCCAGGGCAGGCTTGATCCCCTCAAAGCATTTCCAGGAAAG___GAGATTGGCTTTGAGACGACCAGAAATATTGGTTCAGCCCCTGAAAGTTTCCAACAGGAAATCAT___CTGGTTTTAGAAAAAGTTTTCGTCTTAGTAGAAAAGATAAGAAAACAAATAAATCCATGTATGAATGCAAGAAGAGTGATCAGTACGACACAGCTGACGTACCCACATACGAAGAAGTGACACCGTATCGGCGACAAACTAATGAAAAATACAGACTCGTTGTCTTGGTTG___GTCCCGTGGGAGTAGGGCTGAATGAACTGAAACGAAAGCTGCTGATCAGTGACACCCAGCACTATGGCGTGACAGTGCCCC___ATACCACCAGAGCAAGAAGAAGCCAGGAGAGTGATGGTGTTGAATACATTTTCATTTCCAAGCATTTGTTTGAGACAGATGTACAAAATAACAA___GTTTATTGAATATGGAGAATATAAAAACAACTACTACGGCACAAGTATAGACTCAGTTCGGTCTGTCCTTGCTAAAAACAAAGTTTGTTTGTTGGATGTTCAGCCTCAT___ACAGTGAAGCATTTAAGGACACTAGAATTTAAGCCCTATGTGATATTTATAAAGCCTCCATCAATAGAGCGTTTGAGAGAAACAAGAAAAAATGCAAAGATTATTTCAAGCAGAGATGACCAAGGTGCTGCAAAACCCTTCACA___GAAGAAGATTTTCAAGAAATGATTAAATCTGCACAGATAATGGAAAGTCAATATGGTCATCTTTTTGACAAAATTATAATAAATGATGACCTCACTGTGGCATTCAATGAGCTCAAAACAACTTTTGACAAATTAGAGACAGAGACCCATTGGGTGCCAGTGAGCTGGTTACATTCATAACTAAGAGAAATTTCCATAATTGTCTTTTTCTATAGAGTGCATGATGAAATCAATTACAGTTTTGGTAGTAGGGTTTTTAAATCTATATCACTGTCATAGATGTACAATCTTGGTTCAAGTTGAATGCTGGTTTTGTTTGTATCTTTTTACAGCCTTATTTCAAACGCCATGTGTTAGTATAAGATCCGAAATCAAAATATGCACAGTACTGTATTCTAAGCAAAACCTCAAACCTTCTCGTTGTCTTCAATACCGCTCTATCTCCAAGATGAGGCTGAAATTTTCAGAGAGACTTAGCTAGAGGCTTAGTATGTATGGGAGTTCAGCGCTTCTGCTGGTCTCAGGTGTGGCTGCTGCTGTCGAGTTTGAATGTTAGCTGTTGAAGGTATCAATTCAGCAGCCATGAGCAGCTCCAGACAGACAGGTGAGCTCTGCTGTTTCTGGGTGGATCATCACAGATTTAGCCGGGCAGGCAGTAAGGTGTCCTCTTACTATTCAAAAAGTGTAGACTTTCTTACATATTCGCAATACGTTCACAGTGTGTGCATTTTAAAATAATTCTTAAAGGAGTAACTGAAATTTTACCTTGAGTGAATGGCCTTCATAATATAGCTTGAGAAGTCCTTTTGAGTACCTGTCAGTGACTCAACAACATTTAATAAGGGAAAGTAGACTTTTAACAGTTATTATATATGTAACGAAAAGCCTTTCCTTTGGGATTAATATAAGTAAGAATGGTAGCCTTGTGGCAAGAAATGATTACAAAGGATATTTTTATTTGTAATTCCTCAGAAGACAATTTATGAAGTCACCCAAAATGTTATTTTAGCTGGTTTTGGATTTTTCCAATAAATTAGAAGAAGGATTTCTATTCTAAAACATGTAAAACCTGTTTTACATATTACTGATACAATTAAAGATTATTTTTCATCTATGTGCAATAGATCACCCCTCTTTAAATTGCTCTAAGATTTATTTTAGAAAACTTTTCATGTGATGTTATTTCTTTGTCATCAAAATGCTTGTTAACACTGTCCAGACACCATCCTAACCTTGCCATTGTTAAAGAAGTTTAGGAAAGACTCTTATATTGTAAATATTTAGATGGGTTCTCTCACTTTTCTTTGATACTACTGATTTTCAGCAAGTGAATTATATAATTCAAAATGCTAGAAATGTCTATCCGTTCTATAAGAGAGCATATCCTGCCGTTCTTGCATGCAGTGAAGCCCTGCCCGTCGAAAATCATTGCATCTGTGACTTTCAAAGTGGAAAAAAAAATGTTATTTTTTTGTTGATTTGTAAAGAGAGTTTAAATGTCATGTGAAAAAAAATAGAATGTAGTAAAATTCTATATATTTATGAAATATTTTAAAGGCATATTTTTTTAAATATCAAACGGGGCTATTCATAAAATAAACTGATTGTATGTCAAGATGTCCTAATTTAAAAGAGTAGTTTTATAAATCATGGTCAACATTCCATGTAAATATTTGAGCTTTACAAAGATAGATCCAAGTGTGCGATCTGTGCACTGCACATTTGATAGCATTATTCACTGGTTTTCCTTCATACTTGTCAAGTTCATATTAGAAGCAGAGACAAAAACCACTCCAATGGCCTTGACACATAGTCACACCAAAATAGATAATCAGACTAAGTATTATATAACAACGTGATCCAGACAGTGAGTTCTAAGTGTATTAATTAAATAGCAAAAAATTTTGTTTTTAAAAAATGAAAGAGGGAGGGTTGCCAACCTGAAGTCTTAAGTAGATTGTTTGGGTAGCATATTTCCTTCTTTGAACATTGTCTGAAATTTTCTATAAATCAAGACTTCTTGTACAAAGAATGATGGGACATATGTAATAATTCAGGCAATCACCTGAGTAATTTAGGCAGTCCAAATTCTTTACCCTGAAATACCCACATTTTAAAAAAATTGCAGATAATTGCTTCAGTTATTTACTTTGGGGACAGAGATATAGTGTAAAGTGGGAGAAACTGAGTCCTTTTTTGGTGGTGGTAATAATAAGATGTTATAAAAATATAACATTTTAAAAAAGAAAGGTCCAGACCTTAAGCGCAGAGCTAGAACAATATTTTTTAAATAATGGGGGGAAAAGGGGGCACTTTGGTAATTTTAGAAATCAGGTAGTATACTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGTGCCCAGCCGGTAGACGTGGTCTTAAAAACAGTGTTTACATGGCCATCTTGATGCTTAGAAAGATAATTGATTAAAATTTAATAAGGCAGGGCCAACTCCGAGAGTTCATTGACAACGGCAGCAAAAAGGCCCTGAATTCTGTACTTTCTTCCCCCAGCCTCCTTCTCCAGCAAGGAGAATAGCACTCCTCCCTCCAGAAGCCAGCTCCCTAAGTTGGAGCCACTATGTAAGAGAAGAGGAACGTTCACTTTTTAAAATTCATATATTTAAAAATCAAGACCAAAAAGTAAATTCTGTACTCCTATTATTGACTGTAGTCAATCAAACATAAAAAGGTGAAAGTAAAATTTAATTTTTTACCCTTATTTTACTGACCAATATGGAAGTTCTTGGTATCTTTAAGGCTGACCTTCCTGGTATTGTGTAATGATTGAATGTATCTAAACTGTAATAATTTGAAACTGACAAACATAACCTTCTCAGACTTACAAAACTATGTTCTTTCTAAAGATACAGATTTTTATTATTTTATTTTGACTAGGAAGGATTTATAAATAAATGTAATGAAAAATCTTTGATCTTAATAAAGTACCTTCAAACAGTGTGTGTACTTACTTGAAAATTGTTTTTGCACTTGGATATTCTATTTTATTATACTACTATTGTGATCTATTCCATTATACTATTTCCCATGGTAGAACAAATTATATTTTCTACTGTGATATGAAGTGATGTAATTGAACTTGCCATGTCTAAAATTAAATTTCATATTTTTTTCAATCAAA)$ . 18BR019 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 6 4 0 15 15 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(1),mismappers(1),mismatches(1) CTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___...GGTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGG(TCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 18BR019 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 2 1 0 152 11 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream mismappers(1) ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGAC)CAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGA(AGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 18BR019 ENSG00000278621.1 ENSG00000259345.7 -/- -/- chr15:39588397 chr15:39071608 exon exon/splice-site deletion 1 2 0 50 11 high . . . . . ENSG00000278621.1 ENSG00000259345.7 ENST00000616754.1 ENST00000560197.5 upstream downstream . ^(CAGTGTAAGATATTATAGGGTATAGGGAACCGATAACTTGTTGGGATTATGTTGTCCACCTGCATCTTAGAGCAATCAAATCGCTCAGGACTAACCAAGCTGGAATCTCCTCGAATGCTGACTGCAGCATTCAGTAAAAGAGCAAAGCTCCTGGGTCGTTTCATCCTGGGCTGCGTGGCTCACCAATTGGACAGTCCTGCTTGTTGCAGATCTGGTTTTCTGTTACATCACCAACGCAGTCCTTGCCTCCAAACTGGGGTGTGGGGTTGTTGCAGAGACGACTACGTTTCTGTACCCCTCCTCCACAGGTGACAGAACAGATGTCCCATGGTGACCAAGGACCCCAGCCTCCATTGACTGTAAGAA)GATGAACCACAGGCAACAATTAAGATCAAaaTTCAAATaCCTCCCTTGTCATAGACTCTCCTAAGCCCGTTCAAGAAACCTCTGCTTCTCTGACACATGGAAAGAATGCTGGGGAAGAGG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG(___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 18BR019 ENSG00000146350.14 ENSG00000146350.14 -/- -/+ chr6:121239070 chr6:121191726 CDS/splice-site intron inversion/5'-5' 1 1 0 13 1 medium out-of-frame . Broad-minded_protein(100%)| . . ENSG00000146350.14 ENSG00000146350.14 ENST00000398212.7 . upstream upstream . ^(GCTTTTGCTCGGACCTGGAGTAATGAGAGTGGACGTTTGATTCCAACAGGATGGCCCATTTCTCCAGCGAGGACCAGGCGATGCTGCAGGCGATGCTGAGGCGGTTGTTCCAGAGCGTGAAGGAGAAAATCACGGGTGCCCCTTCCCTGGAGTGTGCCGAAGAGATTCTTTTACATCTGGAGGAAACTGATGAAAATTTTCACAA___CTATGAATTTGTGAAATACCTCAGGCAGCATATAGGCAACACTTTGGGTTCTATGATTGAAGAAGAAATGGAAAAATGCACATCTGATCGGAATCAGGGTGAAGAATGCGGCTATGATACAGTTGTACAGCAGGTCACTAAAAGAACTCAAGAATCTAAAGA___GTACAAAGAAATGATGCATTACCTGAAGAACATTATGATAGCTGTGGTCGAGTCTATGATTAACAAGTTTGAAGAAGATGAGACACGAAATCAAGAAAGGCAGAAAAAAATCCAAAAGGAGAAAAGCCATAGTTACCGCACAGACAATTGCTCTGATAGTGATTCATCATTGAATCAG___AGTTACAAATTTTGTCAAGGAAAATTACAATTGATTTTAGACCAGTTGGATCCTGGGCAACCTAAAGAG___GTGAGATATGAAGCCTTGCAAACATTATGTTCAGCTCCTCCATCTGATGTCCTCAACTGTGAAAATTGGACTACTCTCTGCGAAAAACTGACCGTGTCTCTTTCAGATCCTGATCCTGTGTTTAGT___GACCGGATTTTAAAATTCTGTGCACAGACATTTTTGCTTTCTCCATTACATATGACCAAGGAAATTTATACAAGCTTAG___CTAAGTATTTGGAGTCATACTTTCTTTCTAGGGAAAATCATATTCCTACTCTTTCAGCTGGTGTAGATATAACTAATCCTAATATGACTCGCTTACTTAAAAAG___GTTCGTCTTCTAAATGAATATCAGAAAGAAGCTCCATCTTTCTGGATTCGTCATCCAGAGAA___GTATATGGAAGAAATTGTGGAGAGTACTTTGTCCTTGTTAACAGTTAAACATAATCAAAGCCATGTTGTCTCACAAAAGATTTTGGATCCGATCTACTTTTTTGCATTAGTTGATACCAAGGCTGTGTGGTTCAAAAAGTGGATG___CATGCACATTATAGCAGAACTACAGTATTAAGACTTCTTGAAACGAAATATAAGTCTCTG___GTAACTACAGCCATTCAACAGTGTGTTCAGTACTTTGAAATGTGTAAGACTAGGAAAGCTGATGAAACTTTGGGACATTCAAAGCATTGCA___GAAACAAGCAGAAAACTTTCTACTACTTAGGACAAGAATTACAATATATTTATTTCATTCACTCACTGTGCCTTTTAGGAAGATTATTGATCTATAAACAAGGCAGAAAACTATTTCCTATTAAGCTGAAGAATAAAAAAG___GTTTGGTATCCCTCATAGATCTGCTTGTTCTTTTTACCCAACTTATCTATTACTCACCAAGTTGTCCAAAGATGACATCAGCTGCCCATTCAG___AGAATTACTCTCCTGCAAGTATGGTGACTGAAGTTCTGTGGATACTCAGTGATCAAAAAGAATGTGCAGTGGAATGCTTATATAACAACATTGTAATAGAGACACTTCTTCAGCCTATTCACAATTTAATGAAAGGAAATGAG___GCATCTCCAAATTGCTCTGAGACAGCTTTAATTCATATAGCTGGTATTTTGGCAAGAATTGCATCTGTAGAAGAAGGGCTTATTTTACTCCTTTATGGAGCAAATATGAACTCTTCTGAAGAAAG___TCCTACAGGTGCTCATATAATTGCCCAGTTTTCGAAAAAACTTCTCGATGAAGATATTTCTATATTTTCTGGATCAGAAATGTTGCCTGTGGTTAAAGGAGCTTTTATTTCTGTGTGTCGTCACATATATAGTACATGTGAAGGTTTGCAGGTGTTAATCACTTATAATTTGCATGAATCTATAGCAAAGGCATGGAAAAAG___ACAAGTTTGCTATCAGAAAGAATTCCTACTCCAGTAGAGGGTTCTGATTCTGTTTCTTCAGTAAGCCAGGAATCCCAAAACAT___TATGGCTTGGGAAGATAATTTGTTAGATGATTTACTACATTTTGCTGCCACCCCCAAAGGATTACTACTTCTTCAAAGAACAGGTGCTATCAATGAATGTGTGACATTTATATTCAATCGATATGCAAAAAAATTACAG___GTCAGCAGGCATAAAAAATTTGGCTATGGAGTTTTGGTTACACGAGTGGCATCAACAGCAGCAGGTGGCATTGCACTAAAAAAGTCAG___GGTTTATTAATGAACTTATAA)CTGAATTATGGTCCAATCTGGAATATGGAAGAGATGATGTTAGGGTAACCCATCCCAGAACTACTCCAGTGGATCCTATTGACCGAAGCTGTCAAAAG|GATGCAAAGTACTGATCCTGGTGTGTCTGTGAGGGTGTTGCCGATGGAGATGAACATTTGAGTCAGTGGGCTGGGAAAGGCAGACCCACCCTTAATCTGGTGGGCACCATCTAATCAGCTGCCAGCGAACACAAAGCAGGCAGAAAAACGTGAAAAGGCGAGACTGGCCTAGGCTCCCAGCCTACATCTTTCTCCTGTGCTGGATGCTTCCTGCCCTCAAACATTGGACTCCAAGTTCTTCAGTTTTCAGACTTGGACTGGCT MAHFSSEDQAMLQAMLRRLFQSVKEKITGAPSLECAEEILLHLEETDENFHNYEFVKYLRQHIGNTLGSMIEEEMEKCTSDRNQGEECGYDTVVQQVTKRTQESKEYKEMMHYLKNIMIAVVESMINKFEEDETRNQERQKKIQKEKSHSYRTDNCSDSDSSLNQSYKFCQGKLQLILDQLDPGQPKEVRYEALQTLCSAPPSDVLNCENWTTLCEKLTVSLSDPDPVFSDRILKFCAQTFLLSPLHMTKEIYTSLAKYLESYFLSRENHIPTLSAGVDITNPNMTRLLKKVRLLNEYQKEAPSFWIRHPEKYMEEIVESTLSLLTVKHNQSHVVSQKILDPIYFFALVDTKAVWFKKWMHAHYSRTTVLRLLETKYKSLVTTAIQQCVQYFEMCKTRKADETLGHSKHCRNKQKTFYYLGQELQYIYFIHSLCLLGRLLIYKQGRKLFPIKLKNKKGLVSLIDLLVLFTQLIYYSPSCPKMTSAAHSENYSPASMVTEVLWILSDQKECAVECLYNNIVIETLLQPIHNLMKGNEASPNCSETALIHIAGILARIASVEEGLILLLYGANMNSSEESPTGAHIIAQFSKKLLDEDISIFSGSEMLPVVKGAFISVCRHIYSTCEGLQVLITYNLHESIAKAWKKTSLLSERIPTPVEGSDSVSSVSQESQNIMAWEDNLLDDLLHFAATPKGLLLLQRTGAINECVTFIFNRYAKKLQVSRHKKFGYGVLVTRVASTAAGGIALKKSGFINELITELWSNLEYGRDDVRVTHPRTTPVDPIDRSCQK|daky* 20BR001 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 6 10 1 26 31 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(4),low_entropy(3) CCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___...AGGTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCC(TCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 20BR001 ENSG00000196922.10 ENSG00000104375.17 -/- -/- chr8:144999603 chr8:98456000 exon/splice-site CDS/splice-site deletion 7 4 0 63 90 high . . |C_terminal_SARAH_domain_of_Mst1(100%) . . ENSG00000196922.10 ENSG00000104375.17 ENST00000426361.6 ENST00000523601.5 upstream downstream duplicates(1) ^(TTTCCGGCCCAGGG)GGCTTGGCTCCCCGCGGCACGGGATTTAGCGTTCGCGCTCCTTCCCTTCCCGTGGTCGAGCCGA___GTCCTGACCTGAGGGCTGCATCAAGATCTTGTCATTCCACATCGTGGTTTCCTTTGAGGATGTGGCTGTACCCCTCTCCCAGGAGGAGTGGGACTGTCTGATCCCTGCTCAGAGGGGCCTCTACAAGGATGTGATGATGGGGACCTATGGGAACCTACTCTCATTAG|TTGAAAAATCTAAGTTTAGAAGAACTACAGATGCGGTTAAAAGCACTGGACCCCATGATGGAACGGGAGATAGAAGAACTTCGTCAGAGATACACTGCGAAAAGACAGCCCATTCTGGATGCGATGGATGCgAAGAAAAGAAGGCAGCAAAACTTTTGAGTCTAATTTCCTCTCTGTTTTTAACTATTCTGGAGACCAAGAAACCACTAGGAATTGAAGGAATATTTGGATATTTTTAATCCTAAGATTTTGCCCTACAATTAGGCAGAGGTCAAAAAGTGACAATGGTA(CATGCCCAGGTAAATTCCCAAAAGGCAGAATTGACAGTTGTATCTGCTGTGCATTCACTCTAAGATGAGGAGAACAAAAGAAGTGTATTCTCTTGTTCTGTCAGCTGCATACCAGTAATAAAACTGTTATGAAATGGATTTTCAAGGTCTCTAAACCTTGAAAATCCAAAGCTATTGTTGCATTGTACAGCACTGAAGGGCTTTATGTTACAATATTCTTTATTCCTATCTAGTATACTAGGCTATTTATTGTATCCCCTTAGGTAAACTTATTTATTTATGCTATTTTGCTTTGTTTCATTTTTTAAGGACAAGATCAGGATAGCTTTGGTGAAGGTAGGGTCATATTAATATGATGATAATGTGCAACCAATTTATACTTTCTGCAGGGAGCTATGGGGTACATTCCTTGATTTCCAGGATAGTTTTTCAAATAGGAAAGCAATAATGGCAGTAGTTCTCAAATGGGCTAGGCCTTTTTTATATTGAAGCAATAATTCCATTTTTACCCTTTGAAATTTTGTTTTTTTGATTTTTGATGTTTGGTACAAATAGAACTATATATATTTAGGTAAAATAGATCTATCGTGTTTAAAACCAAAGAAATCAATGGAACCCTTGCACAAAAAAGTGTGATAAATATTTTTAAATAAAAACTTAATACAAATGTAATTTGTTAATATTGTTTCATGTTTTATGTGTAGATCTAATAGCTGAACTGATTCAAACTGTAATAAGCTCATCAATTTCATTTCTATGAAAATGTGCTCTGTTGTCACAGGATGTTTCTGTTGATTTTATTCATTTCCTGGGAATTGGTAAACATCATGTTCCTGATGATAACCCAGTAGCAAAAACATTTGTACTGAGTGGTACAAGCCTTGGGGACTGAAAAAAAAAAGATTAAAACCATTAAAAAGAAACTCATTTTTACGCTGAATGAACATTTATATGATTGCATTGGGACCAGTCATTTCCTAAGCTACATATGGCCATCTTGACAGTGTTTTTTCTTT)$ . 20BR001 ENSG00000123124.14 ENSG00000206719.1(288520),ENSG00000254339.5(42549) +/+ ./+ chr8:86402203 chr8:114239518 CDS/splice-site intergenic deletion 1 8 0 826 24 high out-of-frame . C2_domain(100%)| . . ENSG00000123124.14 . ENST00000517970.6 . downstream upstream . ^(ATTCCGGGTCCGGAGTTGGAGGCTTTGGGCGGCCGCGGCGTAGCGCGCGGTGCCGGGGCCGGCGGGGAGGCGCGCGCTTAGGGCGCGGCGCCGGCGACGCGGCCACGCGGCGCGCTCCCGAGGAAGGGAGGTGTGGGGTCGGCTGGGGGTGGCGCGTGGACGGGGTGGGGGTGGGGGGAGGGTCGGGTGTCGGCGAGCTCCGCGTGCGGGTTCCGAGTGGCTGCTGGCGGCCTGGGCTGCCGGGGCCGACGCCTGGGTGGCTGCTGCCGCCGCGCCTGCTGCGAGATGGCGATCTTGGGCGCGGAAGGGTGAGGGCGCCCGCCGCAGGAGGAGGTGCCGCTGCCGTGGCCGCCCGGCTGCCGGGAGCCGACAGCTTCGCGCCGG___GGTTGTCTCCTCACAGACTATGAGCTCCTTGAAAGAGGGAATCGTGTCTTACTCATCTTTGTATCCCCAGTGTCTAGCAGTTCCTGATACATA___GTTTTAGCTGAATTTTGGGACATGGCCACTGCTTCACCAAGGTCTGATACTAGTAATAACCACAGTGGAAGGTTGCAGTTACAGGTAACTG___TTTCTAGTGCCAAACTTAAAAGAAAAAAGAACTGGTTCGGAACAGCAATATATACAGAAGTAGTTGTAGATGGAGAAATTACGAAAACAGCAAAATCCAGTAGTTCTTCTAATCCAAAATGGGATGAACAGCTAACTGT___AAATGTTACGCCACAGACTACATTGGAATTTCAAGTTTGGAGCCATCGCACTTTAAAAGCAGATGCTTTATTAGGAAAAGCAACGATAGATTTGAAACAAGCTCTGTTGATACACAATAGAAAAT___TGGAAAGAGTGAAAGAACAATTAAAACTTTCCTTGGAAAACAAGAATGGCATAGCACAAACTGGTGAATTGACAGTTGTGCTTGATGGATTGGTGATTGAGCAAGAAAATATAACAAACTGCAGCTCATCTCCAACCA___TAGAAATACAGGAAAATGGTGATGCCTTACATGAAAATGGAGAGCCTTCAGCAAGGACAACTGCCAG___GTTGGCTGTTGAAGGCACGAATGGAATAGATAATCATGTACCTACAAGCACTCTAGTCCAAAA)CTCATGCTGCTCGTATGTAGTTAATGGAGACAACACACCTTCATCTCCGTCTCAGGTTGCTGCCAGACCCAAAAATACACCAGCTCCAAAACCACTCGCATCTGAGCCTGCCGATGACACTG|GCATCAGCTGGAGTACCCTATGCCTTGAAACACAGCTGTAATCACCTTGAATTCCCTTTATGTGGAAAATCCATTGTTTTCTCTATAAAGTCTGTGAATTCCCAAAG___GCCTCTGAGCCCAAGCCAAGCCATCGCATCCCCTGTGACTTGCACGTATACGCCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAATATGACCTGCCCCACCTTAACTGATGACATTCCACCACAAAAGAAGTGTAAATGGCCggTCC MATASPRSDTSNNHSGRLQLQVTVSSAKLKRKKNWFGTAIYTEVVVDGEITKTAKSSSSSNPKWDEQLTVNVTPQTTLEFQVWSHRTLKADALLGKATIDLKQALLIHNRKLERVKEQLKLSLENKNGIAQTGELTVVLDGLVIEQENITNCSSSPTIEIQENGDALHENGEPSARTTARLAVEGTNGIDNHVPTSTLVQNSCCSYVVNGDNTPSSPSQVAARPKNTPAPKPLASEPADDT|giswstlcletql* 20BR001 ENSG00000196090.12 ENSG00000169760.17 -/- +/- chr20:42282489 chr3:173892573 CDS/splice-site intron translocation/5'-5' 7 0 1 120 6 high out-of-frame . Fibronectin_type_III_domain(100%),MAM_domain__meprin/A5/mu(100%)| . . ENSG00000196090.12 ENSG00000169760.17 ENST00000373201.5 . upstream downstream duplicates(1) ^(GTTAGGACTCGGGGGACACCGCCCCCCGCCCCCCGCGTCCCGCCCCCGCCCAGCCTCCCGCCTCAGTTCGCGCCGCGCCTCGGCTTGGAACGCAGGAGCGCCGGCTCCGGGAGCCCGAGCGGAGCCAGCCGCGCGCACAGCCAGCGGCCGCGCCGGCGATGCGGGGCCACCCCGCGCCCGCCCCAGTCCCGGCCCCGGCCCCCGCGGGAAGGGGCTGAGCTGCCCGCCGCCGCCCGGATGGCGAGCCTCGCCGCGCTCGCCCTCAGCCTGCTCCTGAGGCTGCAGCTGCCGCCACTGCCCGGCGCCCGGGCTCAGAGCGCCGCAG___GTGGCTGTTCCTTTGATGAGCACTACAGCAACTGTGGTTATAGTGTGGCTCTAGGGACCAATGGGTTCACCTGGGAGCAGATTAACACATGGGAGAAACCAATGCTGGACCAGGCAGTGCCCACAG___GATCTTTCATGATGGTGAACAGCTCTGGGAGAGCCTCTGGCCAGAAGGCCCACCTTCTCCTGCCAACCCTGAAGGAGAATGACACCCACTGCATCGACTTCCATTACTACTTCTCCAGCCGTGACAGGTCCAGCCCAGGGGCCTTGAACGTCTACGTGAAGGTGAATGGTGGCCCCCAAGGGAACCCTGTGTGGAATGTGTCCGGGGTCGTCACTGAGGGCTGGGTGAAGGCAGAGCTCGCCATCAGCACTTTCTGGCCACATTTCTATCAG___GTGATATTTGAATCCGTCTCATTGAAGGGTCATCCTGGCTACATCGCCGTGGACGAGGTCCGGGTCCTTGCTCATCCATGCA___GAAAAGCACCTCATTTTCTGCGACTCCAAAACGTGGAGGTGAATGTGGGGCAGAATGCCACATTTCAGTGCATTGCTGGTGGGAAGTGGTCTCAGCATGACAAGCTTTGGCTCCAG___CAATGGAATGGCAGGGACACGGCCCTGATGGTCACCCGTGTGGTCAACCACAGGCGCTTCTCAGCCACAGTCAGTGTGGCAGACACTGCCCAGCGGAGCGTCAGCAAGTACCGCTGTGTGATCCGCTCTGATGGTGGGTCTGGTGTGTCCAACTACGCGGAGCTGATCGTGAAAG___AGCCTCCCACGCCCATTGCTCCCCCAGAGCTGCTGGCTGTGGGGGCCACATACCTGTGGATCAAGCCAAATGCCAACTCCATCATCGGGGATGGCCCCATCATCCTGAAGGAAGTGGAATATCGCACCACCACAGGCACGTGGGCAGAGACCCACATAGTCGACTCTCCCAACTATAAGCTGTGGCATCTGGACCCCGATGTTGAGTATGAGATCCGAGTGCTCCTCACACGACCAGGTGAGGGGGGTACGGGACCGCCAGGGCCTCCCCTCACCACCAGGACCAAGTGTGCAG___ATCCGGTACATGGCCCACAGAACGTGGAAATCGTAGACATCAGAGCCCGGCAGCTGACCCTGCAGTGGGAGCCCTTCGGCTACGCGGTGACCCGCTGCCATAGCTACAACCTCACCGTGCAGTACCAGTATGTGTTCAACCAGCAGCAGTACGAGGCCGAGGAGGTCATCCAGACCTCCTCCCACTACACCCTGCGAGGCCTGCGCCCCTTCATGACCATCCGGCTGCGACTCTTGCTGTCTAACCCCGAGGGCCGAATGGAGAGCGAGGAGCTGGTGGTGCAGACTGAGGAAGACG___TTCCAGGAGCTGTTCCTCTAGAATCCATCCAAGGGGGGCCCTTTGAGGAGAAGATCTACATCCAGTGGAAACCTCCCAATGAGACCAATGGGGTCATCACGCTCTACGAG___ATCAACTACAAGGCTGTCGGCTCGCTGGACCCAAGTGCTGACCTCTCGAGCCAGAGGGGGAAAGTGTTCAAGCTCCGGAATGAAACCCACCACCTCTTTGTGGGTCTGTACCCAGGGACCACCTATTCCTTCACCATCAAGGCCAGCACAGCAAAGGGCTTTGGGCCCCCTGTCACCACTCGGATTGCCACCAAAATTTCAG___CTCCATCCATGCCTGAGTACGACACAGACACCCCATTGAATGAGACAGACACGACCATCACAGTGATGCTGAAACCCGCTCAGTCCCGGGGAGCTCCTGTCAG___TGTTTATCAGCTGGTTGTCAAGGAGGAGCGA)CTTCAGAAGTCACGGAGGGCAGCTGACATTATTGAGTGCTTTTCGGTGCCCGTGAGCTATCGGAATGCCTCCAGCCTCGATTCTCTACACTACTTTGCTGCTGAGTTGAAGCCTGCCAACCTGCCTGTCACCCAGCCATTTACAGTGGGTGACAATAAGACATACAATGGCTACTGGAACCCTCCTCTCTCTCCCCTGAAAAGCTACAGCATCTACTTCCAGGCACTCAGCAAAGCCAATGGA___GAGACCAAAATCAACTGTGTTCGTCTGGCTACAAAAG|TTTGCCTTCTTTTCCTGGTTCTGAATATGATGCTGACACATATTAGCCTGCAAGAAGTGATCTACTTTCTGAGACTCAGTTTTCTCATCTGTAAACTGGGGCTACTGATCCTTACCTTACAGGGCTATTGTGAAAGTTAAAAGGAAATGATGTATATAAAACATACATAGGAAAATCTTAATAATGTTTTGTTCCTCC MASLAALALSLLLRLQLPPLPGARAQSAAGGCSFDEHYSNCGYSVALGTNGFTWEQINTWEKPMLDQAVPTGSFMMVNSSGRASGQKAHLLLPTLKENDTHCIDFHYYFSSRDRSSPGALNVYVKVNGGPQGNPVWNVSGVVTEGWVKAELAISTFWPHFYQVIFESVSLKGHPGYIAVDEVRVLAHPCRKAPHFLRLQNVEVNVGQNATFQCIAGGKWSQHDKLWLQQWNGRDTALMVTRVVNHRRFSATVSVADTAQRSVSKYRCVIRSDGGSGVSNYAELIVKEPPTPIAPPELLAVGATYLWIKPNANSIIGDGPIILKEVEYRTTTGTWAETHIVDSPNYKLWHLDPDVEYEIRVLLTRPGEGGTGPPGPPLTTRTKCADPVHGPQNVEIVDIRARQLTLQWEPFGYAVTRCHSYNLTVQYQYVFNQQQYEAEEVIQTSSHYTLRGLRPFMTIRLRLLLSNPEGRMESEELVVQTEEDVPGAVPLESIQGGPFEEKIYIQWKPPNETNGVITLYEINYKAVGSLDPSADLSSQRGKVFKLRNETHHLFVGLYPGTTYSFTIKASTAKGFGPPVTTRIATKISAPSMPEYDTDTPLNETDTTITVMLKPAQSRGAPVSVYQLVVKEERLQKSRRAADIIECFSVPVSYRNASSLDSLHYFAAELKPANLPVTQPFTVGDNKTYNGYWNPPLSPLKSYSIYFQALSKANGETKINCVRLATK|vcllflvlnmmlthislqeviyflrlsflicklglliltlqgyces* 20BR001 ENSG00000147642.17 ENSG00000241385.1(37239),ENSG00000164794.9(26635) -/- ./+ chr8:109618842 chr8:109937001 CDS/splice-site intergenic inversion 1 4 1 187 12 high out-of-frame . . . . ENSG00000147642.17 . ENST00000422135.5 . upstream upstream duplicates(1) ^(AGCGGCTTCTTCAAGAAACAGATCCTGCAGCATAATCTGCCAGGGCCCTGGCAACAGGAACCGGTCCTTCAGGCAGCGAGCCCAGGGAGCAGAATCCTGGCGCCCCCGGCGCGCGGCCCTCAGCGTGCTCACGCCGCTGCGCCCCACCCAGCGGTGCCTGCCCTTTGGTCCCCCGCCCTTCTCTCCATTTTGTCCTCAGCCCCAGCAGCCGCCCGGCTGGCTGCAGAGGCCGAGGGGCCGAGGGCACCGGAGCGCAAGGGATTCCGCGGCACCACGTGTCCAAGCCGGGCTAAGGCGGGCGGAGCGGGCCGGGCCCGGCTCCCCGGGCCTGAGCGCAAACCAGCAGCGACGCGGGGTCCCGTCCGCACCGGCACCCGGCCCAGCCGGGGCCCGGTCTCCCGGGCGCACGTAGGTGCCTCCTCCTGGACAGCGCGATGGGGCCCTTCTGGGCGAGAAAGG___GTGCCTCCTCCTGGACGGCGGCAGCGGCGGCGCGAGGAGCCGGCGGGCAGCGGCGCGATGGGGCCCCTCCGCGAGAGCAAG___AAGGAGCACAGAGTGCAGCATCATGACAAGGAGATTTCTCGAAGCCGAATTCCCCGGTTGATTCTTCGGCCCCATATGCCCCAACAACAGCACAAAGTGTCCCCAGCCTCTGAGTCTCCTTTCTCTGAGGAAGAGAGCAGAGAGTTCAACCCCAGCAGCTCTGGGCGCTCAGCGAGGACCGTTAGCAGCAACAGCTTCTGCTCAG___ATGACACAGGCTGTCCTAGCAGCCA)GTCAGTGTCTCCTGTGAAGACACCCTCAGATGCTGGAAACAGCCCCATTGGCTTTTGCCCTGGAAGTGATGAAGGCTTCACCAGAAAGAAATGCACGATTGGAATGGTTGGTGAAGGAAGCATTCAGTCCTCTCGATATAAGAAGGAATCAAAGTCAGGCCTTGTGAAACCAG|AGAATAGGCCTCACTATGTTGCCCAGGCTAGTCTTGAATTCCTGGGCTCAAGCAAACCACCTGCCTTAGCCTCCCAAAGTGCTGTGATTACACATGTGAGCCACTGTGCCCAGCCTAGAG___GGAAAGAAACTTGTGTATGGCACAGTGGAAACAATGAAGTTGAAGGGTACGGCTTAATGGATGATGAAAATGAGATGTTCGGGGGACAAGAGAGGG___GTCTGCTGGAGATTGCTGGAGGTCCACTCCAGATCCTGTTTGCCTGGGTATCACCAGCGGAGCCTGCAGAACAGCAAAGATGGT MGPLRESKKEHRVQHHDKEISRSRIPRLILRPHMPQQQHKVSPASESPFSEEESREFNPSSSGRSARTVSSNSFCSDDTGCPSSQSVSPVKTPSDAGNSPIGFCPGSDEGFTRKKCTIGMVGEGSIQSSRYKKESKSGLVKP|enrphyvaqasleflgsskppalasqsavithvshcaqprgketcvwhsgnnevegyglmddenemfggqerglleiaggplqilfawvspaepaeqqrw 20BR001 ENSG00000167632.17 ENSG00000254366.7(103586),ENSG00000254001.5(507225) -/- ./+ chr8:140275658 chr8:77640876 CDS/splice-site intergenic inversion 2 2 0 19 19 high out-of-frame . Transport_protein_Trs120_or_TRAPPC9__TRAPP_II_complex_subunit(100%)| . . ENSG00000167632.17 . ENST00000648948.2 . upstream upstream duplicates(1) ^(AAAGTCGGGAGTGCCATGGTGCCAGCTGGGGATCAAGACCGCGCGCCACACAGGGGGAAGCCGGCCCAGGCTGGGGCTCGCACCTCACGTGCCTCCCGGGCCCTGCGATCCTGGAGGCGCTCCCAGGCCGCGCGCGCCACGGTCACCCACCCACGTGGGGGGCACGACCGTGGGAGTCACGGGGGGTACCGTGAGGGTCACAGGGGGTGCCGCAGGGATCCACAGTGGGCTTCCGCGGGGCCTCCACCCCTGAGCTTCACAGAGGAAGTGAAATTTGAGCTGCGCGCCCTGAAGGACTG___GGACTTCAAAATGAGCGTCCCTGACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATCGTCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGCGGGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTGGGGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCCAAGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATCTACGGCTCCACACTGTATGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGTGGCTTTCTACCCCAACTACGAGGACTGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAGTCACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGATCCCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAG___ACATTACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGGGACCTGTGCCTGCAGGCAGGGATGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACTTTCTGTGGCTTGGAG___CTGCCCTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGGTGGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCAGCCAATAGACACCGGCCAG___GGGCACAGGAAGTTCTCATTGATCCAG___GTGCCCTCACCACCAATGGCATCAACCCTGACACCAGTACTGAGATCGGACGTGCTAAGAACTGCCTTAGCCCTGAAGACATAATTGACAAGTATAAAGAGGCGATTTCCTATTACAGCAAG___TATAAGAATGCGGGAGTGATTGAGTTGGAAGCGTGCATCAAGGCTGTACGTGTCCTTGCAATTCAGAAACGGAGCATGGAAGCATCAGAATTTCTTCAGAATGCAGTTTACATTAACCTTCGACAG___CTTTCTGAGGAAGAGAAAATTCAGCGCTACAGCATCCTCTCCGAGCTCTATGAGCTGATCGGCTTCCATCGCAAGTCTGCGTTCTTCAAGCGCGTGGCCGCCATGCAGTGCGTGGCCCCAAGCATCGCGGAGCCTGGGTGGAGGGCCTGCTACAAACTCCTCCTGGAAACGCTGCCCGGCTACAGTCTGTCGCTGGATCCCAAAGATTTCAGCAGAG___GCACGCACAGAGGCTGGGCTGCGGTCCAGATGCGTTTGCTCCATGAATTGGTCTACGCCTCCCGAAGGATGGGGAACCCTGCCCTCTCTGTCAGACACCTGTCCTTCCTTCTACAGACCATGCTGGACTTCTTGTCGGATCAGG___AAAAGAAAGATGTGGCCCAAAGCCTAGAGAACTATACGTCCAAGTGTCCTGGGACCATGGAGCCCATCGCCCTCCCTGGCGGCCTCACCCTGCCACCGGTGCCCTTCACCAAGCTTCCCATCGTCAG___GCATGTGAAACTATTGAACCTTCCTGCTAGCCTCCGGCCACACAAAATGAAAAGCTTGCTGGGTCAGAACGTGTCAACCAAAAGTCCTTTCATCTATTCACCAATTATCGCACACAACCGTGGAGAAGAGCGGAACAAGAAAATAG___ATTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTTCAGCTGATGGTATATAACCCAATGCCGTTTGAACTTCGAGTTGAAAACATG___GGGCTGCTCACCAGCGGAGTGGAGTTCGAGTCTCTCCCTGCGGCGCTTTCTCTTCCGGCTGAATCTGGTCTGTACCCAGTGACGCTCGTCGGGGTCCCGCAGACGACTGGAACGATTACTGTGAACG___GTTACCATACCACGGTCTTCGGTGTGTTCAGTGACTGTTTGCTGGATAACCTGCCGGGAATAAAAACCAGTGGCTCCACAGTGGAAGTCATTCCCGCGTTG)CCAAGACTGCAGATCAGCACCTCTCTGCCCAG___ATCTGCACATTCATTGCAACCTTCTTCTGGTGATGAAATATCTACTAATGTATCTGTCCAGCTTTACAATGGAGAAAGTCAGCAACTAATCATTAAATTGGAAAATATTGGAATGGAACCATTGGAGAAACTGGAGGTCACCTCGAAAGTTCTCACCACTAAAG|TTCCAAAAGACTCAACTAGATGCCATGCTTGCCTGTCTCCATGCACTAATGAGAGGATCTCCTAAGGTTCCCGACGTTCTTCCTGCC MSVPDYMQCAEDHQTLLVVVQPVGIVSEENFFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPENNEWGDFQTHRKVVGLITITDCFSAKDWPQTFEKFHVQKEIYGSTLYDSRLFVFGLQGEIVEQPRTDVAFYPNYEDCQTVEKRIEDFIESLFIVLESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDTDSRHYKKRCQGRMRKHVGDLCLQAGMLQDSLVHYHMSVELLRSVNDFLWLGAALEGLCSASVIYHYPGGTGGKSGARRFQGSTLPAEAANRHRPGAQEVLIDPGALTTNGINPDTSTEIGRAKNCLSPEDIIDKYKEAISYYSKYKNAGVIELEACIKAVRVLAIQKRSMEASEFLQNAVYINLRQLSEEEKIQRYSILSELYELIGFHRKSAFFKRVAAMQCVAPSIAEPGWRACYKLLLETLPGYSLSLDPKDFSRGTHRGWAAVQMRLLHELVYASRRMGNPALSVRHLSFLLQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALPGGLTLPPVPFTKLPIVRHVKLLNLPASLRPHKMKSLLGQNVSTKSPFIYSPIIAHNRGEERNKKIDFQWVQGDVCEVQLMVYNPMPFELRVENMGLLTSGVEFESLPAALSLPAESGLYPVTLVGVPQTTGTITVNGYHTTVFGVFSDCLLDNLPGIKTSGSTVEVIPALPRLQISTSLPRSAHSLQPSSGDEISTNVSVQLYNGESQQLIIKLENIGMEPLEKLEVTSKVLTTK|vpkdstrchaclspctneris* 20BR001 ENSG00000156535.15(96063),ENSG00000279790.1(46967) ENSG00000223786.1 ./+ +/+ chr6:73924379 chr6:74347075 intergenic exon/splice-site deletion 1 3 0 7 7 high . . . . . . ENSG00000223786.1 . ENST00000435946.1 downstream upstream duplicates(1) GGCCGAATAGGAACAGCTCCAGTCTACAGCTCCCAGTGTGAGCGACACAGAAGACAG___ACTGGAGAGGAAATGGCAAGCAGCCTTGTTCTATCATCAGTCCCAGGGAGCTCTTGCATCTCCAGCCCTCATGCTCTGTGTGTATGCCAGCAAGTTGATAATTCCAAGAAGATGATCTCATGTCAGGCACTTGGGAAAG|AGAACTTCCCTTCATGATGCTATGCAATCCCCAGGAGAAGCACGTTGAAAGCTGA___AAAGAAGACTGACTGAGATGTGTTGGCGGGCTTCTCAAGATCCCTATCGATGGCAGAATGCTGACATGAGTTGCCCATAGTCCAG(___GTTTCCCAATGTAGCAGATGACTCTAGCGGCTCCAGCTTCAGCATCATCTTAAGTTCAAGTGAAAAGGAAAAGAGAATCTCTTTTTCTTCAAACAATTTCAAACTAAAATCTTGAGTCTGACTTTTCCTGGCCAGAATTAAGCTTGTACTTATCCCTGAAAAATCATCAATGCTACAGTGATGAATTTACCAATTGAGGCAGAATTTAGGTCACATGACGCTCCAAAGCCTCTTCAAAACCGCATGACTCAGAGTGAGGCAGAAGTATTTGGGATATTTGCAACAGGAGAAGGGTAAATGAATGGAGAGTGCCAAAACAACTTATGTCAATTATACAATTATAAATACAACCAAAATAAAGTATGGAAATCAGTATTTTCACCTATCTTAA)$ . 20BR001 ENSG00000104375.17 ENSG00000235743.2(204621),ENSG00000219453.1(40743) -/- ./- chr8:98825515 chr6:23608753 CDS/splice-site intergenic translocation 2 2 0 49 6 high out-of-frame . . . . ENSG00000104375.17 . ENST00000419617.7 . upstream downstream duplicates(2) ^(AGATCCGCCGCGGAGTTACGGGAAAGTTGGTCCGAGTT)CCCAGAGTTTCCCTCTGTGGTGCCCTAGGCTCGGCCGGCCGGTGCCCCGGCTCCTTTCCTCCTTTCGGCCTTCGCCGTCCACCAGGTCCCTCTCTCTGTCCCCGGCCGCCATGGAGCAGCCGCCGGCGCCTAAGAG|ACTCCTTCTACATCTGTTGTTCAAGGTTCAGACTCAATATGCAACTAATTTATGAAGCCCGTTTAGACCACAACAACCCTGATGCAAGATG___TTCTCCACTATGTTAAGATGCAGCATGAAGCCCTTACCAGAAGCTAAGAGTATTCCG MEQPPAPKr|lllhllfkvqtqyatnl* 20BR001 ENSG00000176853.16 ENSG00000253868.4 +/+ -/- chr8:123798238 chr8:124124556 CDS/splice-site intron inversion 3 0 1 206 2 high out-of-frame . FAM91_C-terminus(100%),FAM91_N-terminus(100%)| . . ENSG00000176853.16 ENSG00000253868.4 ENST00000334705.12 . downstream downstream duplicates(1) ^(AGAGCCATTTCCGGCGGCCCGAAACTAGGAAGAAACTTGGAGCTGTTCAGGCGATCCAGCCTCCAATCGCTGCTGCTCTTGTACTCGGTTGGCCCGGGCGGCGCTGAACTGTCGGGAGCCTAGGCCATGGGGCAGCCTGGGCCTTCTGCAGTGTGAGGCGCGGGGCCTCCCGCGTCGCTCCGCTGACAGGCTGCGGGCGGGCAGGCGGGAGGCGTAGTGTGGGTCGCGGTGGCGGCCCCGGCCGCCGGCCCTGGCCGCGGCATCATGAACATAGACGTGGAGTTCCACATCCGGCACAACTACCCCTGGAACAAGTTGCCGGCCAACGTGAGACAG___AGTCTTGGAAATTCACAGAGAGAATATGAAAAGCAGGTTGTCCTGTACAGTATCCGCAATCAGTTACGATATAGAAATAACTTAG___TTAAACATGTCAAGAAAGATGAACGCAGATACTATGAGGAACTGCTAAAGTACAGCCGAGATCATCTCATGCTGTACCCTTACCATCTATCGGATATTATGGTGAAAGGCTTGAGGATAACACCATTTTCATATTATACTGGGATTATGGAG___GATATTATGAACAGTGAGAAAAGTTATGATTCATTGCCCAATTTTACTGCTGCTGACT___GTCTAAGGCTTCTTGGCATAGGAAGAAACCAGTATATTGATCTTATGAATCAGTGTAGATCATCAAAA___AAATTCTTCAGAAGGAAAACAGCCCGTGATCTTCTACCAATAAAGCCAGTGGAAATTGCCATAGAGGCGTGGTGGGTGGTGCAGGCTGGCTATATCACAGAAGATGACATCAAG___ATATGCACTTTGCCTGAGAAATGCGCTGTTGATAAGATCATCGATTCAGGCCCTCAACTCTCTGGATCACTAGATTACAATGTAGTACATA___GTTTGTATAACAAAGGATTTATTTATCTGGATGTACCAATATCTGATGACAGTTGTATAGCAG___TTCCACCTCTTGAAGGTTTTGTAATGAATCGAGTGCAAGGTGATTATTTTGAAACTCTACTCTATAAGATATTTGTTTCAATAGATGAGCACACAAATGTTGCAGAG___CTTGCAAATGTCCTTGAGATTGACTTATCCCTGGTTAAG___AATGCTGTTTCAATGTATTGCCGATTGGGCTTTGCCCATAAGAAGGGACAAGTAATTAATTTGGATCAACTTCATTCATCATGGAAGAATGTTCCATCCGTAAACAGATTAAA___GAGTACCTTAGATCCACAGAAGATGCTCTTGTCATGGGATGGAGGGGAAAGTAGGAGTCCTGTACAAGAAGCTTCATCGGCAACTGACACTGATACAAATAGTCAAGAAGATCCAG___CTGACACAGCCAGTGTAAGCAGCCTGAGTCTGTCTACAGGACACACGAAGCGCATCGCATTCCTGTTTGACTCCACTCTTACTGCCTTCTTAATGATGGGAAATCTTTCACCA___AACTTGAAAAGTCATGCAGTCACAATGTTTGAAGTAGGCAAACTCTCAGATGAGTCTCTGGACAGCTTTCTTATAGAACTAGAAAAG___GTTCAGAGCACTGGTGAAGGAGAAGCACAGAGATATTTTGATCATGCACTTACTCTGAGAA)ACACAATACTGTTTCTGCGTCATAACAAAGATCTAGTTGCGCAAACTGCACAGCCAGACCAACCCAATTATG___GTTTTCCTCTGGATCTCTTACGCTGTGAAAGCCTTCTTGGTTTGGACCCTGCAACTTGCAGCAGAGTTCTAAACAAAAATTACACGCTGCTTGTTTCCATGGCTCCCCTCACCAATGAAATCCGGCCTGTCAGCAGCTGCACCCCTCAG|ATGGGTTCTCTACCTGGCTGGCGCCATGTTACCTGCTTGTTTACTGCACACATGATGACAAAGAAAAGGTGGGAGCCTCCATGTTGAACATACC MNIDVEFHIRHNYPWNKLPANVRQSLGNSQREYEKQVVLYSIRNQLRYRNNLVKHVKKDERRYYEELLKYSRDHLMLYPYHLSDIMVKGLRITPFSYYTGIMEDIMNSEKSYDSLPNFTAADCLRLLGIGRNQYIDLMNQCRSSKKFFRRKTARDLLPIKPVEIAIEAWWVVQAGYITEDDIKICTLPEKCAVDKIIDSGPQLSGSLDYNVVHSLYNKGFIYLDVPISDDSCIAVPPLEGFVMNRVQGDYFETLLYKIFVSIDEHTNVAELANVLEIDLSLVKNAVSMYCRLGFAHKKGQVINLDQLHSSWKNVPSVNRLKSTLDPQKMLLSWDGGESRSPVQEASSATDTDTNSQEDPADTASVSSLSLSTGHTKRIAFLFDSTLTAFLMMGNLSPNLKSHAVTMFEVGKLSDESLDSFLIELEKVQSTGEGEAQRYFDHALTLRNTILFLRHNKDLVAQTAQPDQPNYGFPLDLLRCESLLGLDPATCSRVLNKNYTLLVSMAPLTNEIRPVSSCTPQ|mgslpgwrhvtclftahmmtkkrweppc* 20BR001 ENSG00000164756.12(10069),ENSG00000286308.1(78489) ENSG00000164756.12 ./- +/- chr8:117186783 chr8:117173488 intergenic 3'UTR deletion/read-through 10 8 1 28 128 medium . . . . . . ENSG00000164756.12 . . upstream downstream duplicates(6),mismappers(1),mismatches(1) CAGACTGTCTGCAGTTCCCTGCCCTGTGACACAGTCTGGACACTTTTTCAACACAATAAACTAGGGAAATTATTGGGCTCACTATTTTGTTACCTGACTCCTGGAAATAACTGTCCTTCATTGACTGACATTCAATGTCTTGAGGGCCATCCCTTCATTGATTTTGTCCACGTTTTATTTGTTCGACATGAAG|GTAAATATCTAAATTATCTGTGGCAACAACTTGGTGGGGTCAACTCGAATGTTTTTGTCGGCTGTTCTTGAAGACTTCTGGGTCTCTACAACCACATTCTTTGGCTGGTGCCAGTGTTTAAGCACTCTG___AAACTGCATAGCAGCATGTTTGAAGGTGGCCTGTCAAATTTGGGAAACTGAC...GTCGGGGTCCTGGTCAACTGGAGATTCCATCTGAATG___ATGAGAAGAATACACCTTGGCAGCTGCTGGATCAAGGCAAATGAGAGACCCATGGAGCTCACTAAATCCAACTCTACAGCTTGGAGCTAAGCCTAACTTAGCCAAGTCTAAAC . 20BR001 ENSG00000249859.11 ENSG00000253706.5 +/+ -/- chr8:127890998 chr8:74799319 exon/splice-site exon/splice-site inversion 1 3 0 59 66 medium . . . . . ENSG00000249859.11 ENSG00000253706.5 ENST00000651587.1 ENST00000523860.5 downstream downstream duplicates(1) ^(AGAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA___GATTTATTAGGAGAAAAACCTTCCCGGAAGCTGCAGAAGGACAAATACAGAATCCGTGTCTGGGAGAAACCTCGTGGCCTGGTCTCCATTATTTGAGATGAGTTACATCTTGGAGGTGAGGACGTGCCTCGTGGTCTAAAGCTTCGGCACAAGGGCCCAACTGGAATTCCACTTACGG___GCCTGATCTTTTGGCCAGAAGGAGATTAAAAAGATGCCCCTCAAGATGGCTGTGCCTGTCAGCTGCATGGAGCTTCGTTCAAGTATTTTCTGAGCCTGATGGATTTACAGTGATCTTCAGTGGTCTGGGGAATAACGCTGGTGGAACCATGCACTGGAATGACACACGCCCGGCACATTTCAGGATACTAAAAGTGGTTTTAAGGGAGGCTGT)GGCTGAATGCCTCATGGATTCTTACAGCTTGGATGTCCATGGGGGACGAAGGACTGCAGCTGGCTGAGAGGGTTGAGATCTCTtTTTACTTAGATCTCTGaCAACTTCCTTTGGGTCTCCCTATGGAATGTAAGACCCCGACTCTTCCTGGTGAAGCATCTGATGCACGTTCCATCCGGCGCTCAGCTGGGCTTGAG|CCAGGCACGATGGCTCATGCCTGTAATCCCAGAACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGTTCGGGAGTTCGAGACAAGCCTGACCAACGTGGTAAAACCCTATCTTTACTAAAAATACAAAATTAGCCAGGCATGGGGGCATATGCCTCTAATCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCG(GTGAACTGAGATGGCGCCATTGCACTCCAGCTTGGGCAACAGGAGTGAAACTCCATCTCAAACAACAACAACAACAACAACAACAACAACAACAACAAAAACACTTTCACACCTGAATGACTAAATAATTGGAAATAATAAGGGTTGAGGGGGAGAATAAAGCTACTGAAATATGGAAAGAAGACTAACACTACTTTTAAACTGATGTTCTACTAATGTAGACCCGTACATCATATCACCATTACATTGTTTAAGCATTAAAGTTTGCACTGTAAGTGGCTCTTTAAACCCTTCCCTCCATTTCTTTTCCCTCTC)$ . 20BR001 ENSG00000249859.11 ENSG00000253706.5 +/+ -/- chr8:127890998 chr8:74818668 exon/splice-site exon/splice-site inversion 3 1 0 59 66 medium . . . . . ENSG00000249859.11 ENSG00000253706.5 ENST00000651587.1 ENST00000523860.5 downstream downstream . ^(AGAGCGCGTGTGGCGGCCGAGCACATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA___GATTTATTAGGAGAAAAACCTTCCCGGAAGCTGCAGAAGGACAAATACAGAATCCGTGTCTGGGAGAAACCTCGTGGCCTGGTCTCCATTATTTGAGATGAGTTACATCTTGGAGGTGAGGACGTGCCTCGTGGTCTAAAGCTTCGGCACAAGGGCCCAACTGGAATTCCACTTACGG___GCCTGATCTTTTGGCCAGAAGGAGATTAAAAAGATGCCCCTCAAGATGGCTGTGCCTGTCAGCTGCATGGAGCTTCGTTCAAGTATTTTCTGAGCCTGATGGATTTACAGTGATCTTCAGTGGTCTGGGGAATAACGCTGGTGGAACCATGCACTGGAATGACACACGCCCGGCACATTTCAGGATACTAAAAGTGGTTTTAAGGGAGGCTGTGGCTGAATGCCTCATGGATTCTTACAGCTTGGATGTCCAT)GGGGGACGAAGGACTGCAGCTGGCTGAGAGGGTTGAGATCTCTGTTTACTTAGATCTCTGCCAACTTCCTTTGGGTCTCCCTATGGAATGTAAGACCCCGACTCTTCCTGGTGAAGCATCTGATGCACGTTCCATCCGGCGCTCAGCTGGGCTTGAG|GTATCCTTCAGAAAGCCTGGGCAATAAACCGAAGGCTCCTAAAAAGAGCAAAGTGTCTG___CCAGGCACGATGGCTCATGCCTGTAATCCCAGAACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGTTCGGGAGTTCGAGACAAGCCTGACCAACGTGGTAAAACCCTATCTTTACTAAAAATACAAAATTAGCC(AGGCATGGGGGCATATGCCTCTAATCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAACTGAGATGGCGCCATTGCACTCCAGCTTGGGCAACAGGAGTGAAACTCCATCTCAAACAACAACAACAACAACAACAACAACAACAACAACAAAAACACTTTCACACCTGAATGACTAAATAATTGGAAATAATAAGGGTTGAGGGGGAGAATAAAGCTACTGAAATATGGAAAGAAGACTAACACTACTTTTAAACTGATGTTCTACTAATGTAGACCCGTACATCATATCACCATTACATTGTTTAAGCATTAAAGTTTGCACTGTAAGTGGCTCTTTAAACCCTTCCCTCCATTTCTTTTCCCTCTC)$ . 20BR001 ENSG00000070193.5 ENSG00000251141.6 -/- -/- chr5:44388358 chr5:44746038 CDS/splice-site exon/splice-site duplication 1 2 0 39 909 medium out-of-frame . Fibroblast_growth_factor(100%)| . . ENSG00000070193.5 ENSG00000251141.6 ENST00000264664.5 ENST00000659161.1 upstream downstream . ^(GACATTTAGACTCCAGGCTTCAACCTGTTTACAAGCGGACTTTCCAAAGGAAGGGGGTGGGAGATAGGGCCATACAAAACACCAGCCGCCGTCCCCCAAAACAAAAAGTGACTTTCGGCAGCCTTCAAATCGGCAGGCACCACTAAAAACAGAAAGGAAGAGAGGGAAGAAAACAACGGCGACTGGGCAGCTGCCTCCACTTCTGACAACTCCAAAGGGATATACTTGTAGAAGTGGCTCGCAGGCTGGGGCTCCGCAGAGAGAGACCAGAAGGTGCCAACCGCAGAGGGGTGCAGATATCTCCCCCTATTCCCCACCCCACCTCCCTTGGGTTTTGTTCACCGTGCTGTCATCTGTTTTTCAGACCTTTTTGGCATCTAACATGGTGAAGAAAGGAGTAAAGAAGAGAACAAAGTAACTCCTGGGGGAGCGAAGAGCGCTGGTGACCAACACCACCAACGCCACCACCAGCTCCTGCTGCTGCGGCCACCCACGTCCACCATTTACCGGGAGGCTCCAGAGGCGTAGGCAGCGGATCCGAGAAAGGAGCGAGGGGAGTCAGCCGGCTTTTCCGAGGAGTTATGGATGTTGGTGCATTCACTTCTGGCCAGATCCGCGCCCAGAGGGAGCTAACCAGCAGCCACCACCTCGAGCTCTCTCCTTGCCTTGCATCGGGTCTTACCCTTCCAGTATGTTCCTTCTGATGAGACAATTTCCAGTGCCGAGAGTTTCAGTACAATGTGGAAATGGATACTGACACATTGTGCCTCAGCCTTTCCCCACCTGCCCGGCTGCTGCTGCTGCTGCTTTTTGTTGCTGTTCTTGGTGTCTTCCGTCCCTGTCACCTGCCAAGCCCTTGGTCAGGACATGGTGTCACCAGAGGCCACCAACT)CTTCTTCCTCCTCCTTCTCCTCTCCTTCCAGCGCGGGAAGGCATGTGCGGAGCTACAATCACCTTCAAGGAGATGTCCGCTGGAGAAAGCTATTCTCTTTCACCAAGTACTTTCTCAAGATTGAGAAGAACGGGAAGGTCAGCGGGACCAAGAAGGAGAACTGCCCGTACA|AGTCTATATGTCAGAATACACATTTCCCACCTTGCCCAACAGTAGAAAAACATAAGAAGAGAAAAACATTAAAAAATGACAAGGAAcTTAATGGAAG___TCAGCAATGTGATGGTGTTTGGAGGTGGAGCCTTCAGAAGGTAATTAATGCCCTTGTAAGAAGAGGCCAGAGAGCTTGCGCACCTTCTTCCTGCCATGTGAGGAGCCAAGAAGCCGGCTGTCTGCAACCTGCAAGAGaAC(CCTCACTAGAAGCTAGCCATACTGGCATCCTCATCTTGGCTTTCCAACTTCCAGAACTGTGAGAAGTATATGTTTGTGGTTTAGTCAATGGTCTATGGTAATTTTTTTATAGCAGTCCCAGCCAAGACAGTGCCTCATTTACTACATACCATTTATATTATTATATAGGCTCCTTTCAGAAACCCATGTTCAAATAAGAGATAAGATACTGAAACACATAACACCTTCACTAGTTTTTAGTATACAAATATTGAGAAATAGTTTGTTATTAACTATCTCATCCAAGAAATGCAGATTCATGTTGTTTCTAATTTTTTATATATAATTGACAAAATGAAGAAACTTAACACCATCCT)$ MWKWILTHCASAFPHLPGCCCCCFLLLFLVSSVPVTCQALGQDMVSPEATNSSSSSFSSPSSAGRHVRSYNHLQGDVRWRKLFSFTKYFLKIEKNGKVSGTKKENCPY|ksicqnthfppcptvekhkkrktlkndkelngsqqcdgvwrwslqkvinalvrrgqracapsschvrsqeagclqparepsleashtgililafqlpel* 20BR001 ENSG00000070193.5 ENSG00000251141.6 -/- -/- chr5:44388358 chr5:44777328 CDS/splice-site exon/splice-site duplication 1 1 0 39 771 medium out-of-frame . Fibroblast_growth_factor(100%)| . . ENSG00000070193.5 ENSG00000251141.6 ENST00000264664.5 ENST00000505401.1 upstream downstream . ^(GACATTTAGACTCCAGGCTTCAACCTGTTTACAAGCGGACTTTCCAAAGGAAGGGGGTGGGAGATAGGGCCATACAAAACACCAGCCGCCGTCCCCCAAAACAAAAAGTGACTTTCGGCAGCCTTCAAATCGGCAGGCACCACTAAAAACAGAAAGGAAGAGAGGGAAGAAAACAACGGCGACTGGGCAGCTGCCTCCACTTCTGACAACTCCAAAGGGATATACTTGTAGAAGTGGCTCGCAGGCTGGGGCTCCGCAGAGAGAGACCAGAAGGTGCCAACCGCAGAGGGGTGCAGATATCTCCCCCTATTCCCCACCCCACCTCCCTTGGGTTTTGTTCACCGTGCTGTCATCTGTTTTTCAGACCTTTTTGGCATCTAACATGGTGAAGAAAGGAGTAAAGAAGAGAACAAAGTAACTCCTGGGGGAGCGAAGAGCGCTGGTGACCAACACCACCAACGCCACCACCAGCTCCTGCTGCTGCGGCCACCCACGTCCACCATTTACCGGGAGGCTCCAGAGGCGTAGGCAGCGGATCCGAGAAAGGAGCGAGGGGAGTCAGCCGGCTTTTCCGAGGAGTTATGGATGTTGGTGCATTCACTTCTGGCCAGATCCGCGCCCAGAGGGAGCTAACCAGCAGCCACCACCTCGAGCTCTCTCCTTGCCTTGCATCGGGTCTTACCCTTCCAGTATGTTCCTTCTGATGAGACAATTTCCAGTGCCGAGAGTTTCAGTACAATGTGGAAATGGATACTGACACATTGTGCCTCAGCCTTTCCCCACCTGCCCGGCTGCTGCTGCTGCTGCTTTTTGTTGCTGTTCTTGGTGTCTTCCGTCCCTGTCACCTGCCAAGCCCTTGGTCAGGACATGGTGTCACCAGAGGCCACCAACTCTTCTTCCTCCTCCTTCTCCTCTCCTTCCAGCGCGGGAAGGCATGTGCGGAGCTACAATCACCTTCA)AGGAGATGTCCGCTGGAGAAAGCTATTCTCTTTCACCAAGTACTTTCTCAAGATTGAGAAGAACGGGAAGGTCAGCGGGACCAAGAAGGAGAACTGCCCGTACA|GTAGCTGAGACCAATGATGCTGACCTCCCTCAAAAGCTGCATTTCTGAATTTCTGAAGGCAAACTGTCTGCCTATATTGTAC(AGCAAAATAATTTCCTGTATTAAAACGTTTTTATTGCTCTAAATTTCTAGATTAAACTCTGCTTAGGTATTGCTAAGAGGGTAGCCAAGTATAGAAACTTAAATTTACTGACAGAAATCTAGAGAATGCTTAATTTTTTTTCCAGCAGTGAAGTAGAAGAGACAGGGATATCCCAGAAGGT)$ MWKWILTHCASAFPHLPGCCCCCFLLLFLVSSVPVTCQALGQDMVSPEATNSSSSSFSSPSSAGRHVRSYNHLQGDVRWRKLFSFTKYFLKIEKNGKVSGTKKENCPY|ss* 20BR001 ENSG00000201790.1(404),ENSG00000251204.1(492064) ENSG00000164327.13 ./- -/- chr5:105923512 chr5:39003622 intergenic CDS/splice-site deletion 2 0 0 16 21 medium . . |Rapamycin-insensitive_companion_of_mTOR_RasGEF_N_domain(100%),Rapamycin-insensitive_companion_of_mTOR__N-term(100%),Rapamycin-insensitive_companion_of_mTOR__domain_5(100%),Rapamycin-insensitive_companion_of_mTOR__middle_domain(100%),Rapamycin-insensitive_companion_of_mTOR__phosphorylation-site(100%) . . . ENSG00000164327.13 . ENST00000357387.8 upstream downstream . AGAAAGTGCCTGCTTCCCTTTTGCTGTCTGCCATGACTGTAAGTTTCCTGAAGCCTTCCCAGCCATGCGAAATT___GGTCTTCCTCTGTTCCCTAGGCTGAAGGGCAGTCGTGTGcCCATAGCACACTGCAAACCTGAACTCCTGTGCTCAAGCAATCCTCTCACCTTAGCCTTCTGAGTATCTGGGACTACAG|CTTCTTTGTGATATTGGCCACAGTGAAGAAAAACTGGGCTTTCACTATGAGGATATCATAATTTG___TTTGCGG(TTAGCTTTATTAAATGAAGCAAAAGAAGTGCGAGCAGCAGGGCTACGAGCGCTTCGATATCTCATCCAAGACTCCAGTATTCTCCAGAAGGTGCTAAAATTGAAAGTGGACTATTTAATAGCTAG___GTGCATTGACATACAACAGAGCAACGAGGTAGAGAGGACACAAGCACTTCGATTAGTCAGAAAG___ATGATTACTGTGAATGCTTCCTTGTTTCCTAGTTCTGTGACCAACTCATTAATTGCAGTTGGAAATGATGGACTTCAAGAAAGAGACAGAATGGTCCGAGCATGCATTGCCATTATCTGTGAACTAG___CACTTCAGAATCCAGAGGTGGTGGCCCTTCGAGGTGGACTAAACACCATCTTGAAAAATGTGATCGATTGCCAATTAAGTCGAATAAATGAGGCCCTAATTACTACAATTTTGCACCTTCTTAATCATCCAAAGACTCGACAGTATGTGCGAGCTGATGTAGAATTAGAG___AGAATTTTAGCACCCTATACTGATTTTCACTACAGACATAGTCCAGATACAGCTGAAGGACAGCTCAA___AGAAGACAGAGAAGCACGATTTCTAGCCAGTAAAATGGGAATCATAGCAACATTCCGATCATGGGCAG___GTATTATTAATTTATGTAAACCTGGAAATTCTGGGATCCAGTCTCTAATAGGAGTACTTTGCATACCAAATATGGAAATAAGG___CGAGGTCTACTTGAAGTGCTTTATGATATATTTCGTCTTCCTCTACCTGTTGTGACTGAGGAGTTCATAGAAGCACTACTCAGTGTAG___ATCCAGGGAGGTTCCAAGACAGTTGGAGGCTTTCAGATGGCTTTGTGGCAGCTGAGGCAAAAACTATTCTTCCTCATCGTGCCAGATCCAG___GCCAGACCTCATGGATAATTATTTGGCACTGATACTCTCTGCATTTATTCGTAATGGACTTTTAGAG___GGTCTAGTTGAAGTGATAACAAACAGTGATGATCATATCTCAGTTAGAGCTACCATCCTTTTAGGAGAGCTTTTACATATG___GCAAACACAATTCTTCCTCATTCACATAGCCATCATTTACACTGCTTGCCAACCCTAATGAATATGGCTGCATCCTTTGATATCCCCAAGGAAAAGAGACT___GCGAGCCAGTGCAGCCTTGAACTGTTTAAAACGCTTCCATGAAATGAAGAAACGAGGACCTAAGCCTTATAGTCTTCATTTAGACCACATTATTCAGAAAGCAATTGCAACACACCAGAAACGGGATCAGTATCTCCGAGTTCAGAAAGATATATTTATCCTTAAG___GATACAGAGGAAGCTCTTTTAATTAACCTTAGAGATAGCCAAGTCCTTCAACATAAAGAGAATCTTGAATGGAATTGGAATCTTATAGGGACCATTCTTAAG___TGGCCAAATGTAAATCTAAGAAACTATAAAGATGAACAGTTACACAG___GTTTGTACGAAGACTACTTTATTTTTACAAGCCCAGCAGTAAATTATATGCCAACCTGGATCTGGATTTTGCCAAGGCCAAACAGCTCACGGTTGTAGGTTGCCAGTTTACAGAATTTCTTCTTGAATCTGAAGAG___GATGGGCAAGGCTACTTAGAAGATCTAGTAAAGGATATTGTTCAGTGGCTCAATGCTTCATCTGGAATGAAACCCGAAAGAAGTCTTCAAAATAATGGTTTATTGACCACCCTTAGTCAACACTACTTTTTATTTATTGGAACACTTTCTTGCCACCCTCATGGAGTTAAAATGCTGGAAAAATGCAGTGTATTTCAGTG___TCTCCTTAATCTTTGCTCCTTGAAAAACCAAGATCACTTGCTAAAACTTACTGTTTCTAGCTTGGACTATAGCAGAGATGGATTGGCTAGAGTCATCCTTTCCAAAATTTTAACTGCAGCTACTGAT___GCCTGCAGACTCTATGCAACAAAACATTTAAGGGTATTATTGAGAGCTAATGTTGAATTCTTTAATAATTGGGGAATTGAGTTGTTAGTGACCCAGCTACATGATAAAAACAAAACGATTTCCTCTGAAGCTCTTGATATCCTCGATGAAGCATGTGAAGACAAG___GCCAATCTTCATGCTCTCATTCAGATGAAACCAGCGTTATCCCACCTTGGAGACAAGGGTTTGCTTCTCCTGCTGAG___ATTTCTCTCCATTCCAAAAGGATTTTCCTATCTGAATGAAAGAGGTTATGTAGCAAAACAATTGGAAAAGTGGCACAGG___GAATACAACTCCAAATATGTTGACTTGATTGAGGAACAACTCAATGAAGCACTTACTACTTACCGGAAGCCTGTTGATGGTGATAACTATGTTCGTCGGAGTAACCAAAG___ATTACAGCGTCCTCACGTCTACCTGCCTATACACCTTTATGGACAACTAGTACACCATAAAACAGGCTGCCATTTGTTGGAAGTACAG___AATATTATTACAGAACTCTGTCGTAATGTTCGTACACCAGATTTGGATAAGTGGGAAGAAATTAAAAAACTGAAAGCATCTCTTTGGGCCTTG___GGAAATATCGGCTCATCAAATTGGGGTCTCAATTTGCTACAGGAAGAAAACGTGATTCCAGATATACTAAAACTTGCAAAACAGTGTGAAGTTCTTTCCATCAGAGG___GACCTGTGTATATGTACTTGGGCTCATAGCTAAAACCAAACAAGGCTGTGATATTCTAAAATGTCACAACTGGGATGCTGTGAGGCATAGTCGCAAACATCTGTGGCCAGTGGTTCCAGATGATGTGGAACAACTCTGTAATGAACTTTCATCTATCCCAAGCACTCTAAGTTTGAACTCGGAGTCAACCAGCTCTAGACATAATAGTGAAAGTGAATCTGTGCCATCGA___GTATGTTCATATTGGAGGATGACCGGTTTGGCAGCAGCTCTACTAGCACATTTTTCCTTGATATCAATGAAGATACAGAGCCAACATTTTATGACCGATCTGGACCCATAAAGGATAAAAATTCATTCCCTTTCTTTGCTTCTAGTAAACTTGTGAAGAATCGTATCTTAAATTCGCTTACTTTGCCTAACAAAAAACATCGTAGTAGCAGTGATCCAAAAGGAGGGAAATTATCATCTGAAAGTAAGACAAGCAACAGGCGAATCAGAACACTTACGGAGCCCAGTGTTGATTTTAATCATAGTGATGATTTTACACCCATATCCACTGTACAGAAAACATTACAATTAGAGACTTCATTTATGGGGAATAAGCACATTGAAGACACTGGTAGTACACCAAGCATTGGAGAAAATGACTTAAAATTCACCAAGAATTTTGGTACAGAGAATCACAGAGAAAATACAAGCCGAGAGAGGTTAGTAGTAGAAAGTTCAACGAGCTCACATATGAAGATACGTAGCCAAAGTTTCAATACAGACACTACAACAAGTGGCATAAGTTCAATGAGCTCAAGTCCTTCACGAGAGACAGTAGGTGTAGATGCTACAACTATGGACACAGACTGTGGAAGCATGAGTACTGTGGTAAGTACTAAAACTATTAAGACAAGCCACTATTTGACGCCACAGTCTAACCATCTGTCTCTCTCCAAATCAAATTCGGTGTCCCTGGTGCCTCCAGGTTCTTCTCATACGCTTCCTAGAAGAGCACAGTCCCTTAAAGCACCCTCTATTGCTACAATTAAAAGTCTAGCAGATTGTAACTTTAGTTACACAAGTTCTAGAGATGCTTTTGGCTATGCTACACTGAAAAGACTACAGCAACAAAGAATGCATCCATCCTTATCTCACTCTGAAGCTTTGGCATCTCCAGCAAAAGATGTGCTATTTACTGATACCATCACCATGAAGGCCAACAGTTTTGAGTCCAGATTAACACCAAGCAG___GTTCATGAAAGCCTTAAGTTATGCATCATTAGATAAAGAAGATTTATTGAGTCCTATTAATCAAAATACCCTGCAACGATCTTCCTCAGTGCGGTCCATGGTGTCCAGTGCCACATATGGGGGTTCAGATGATTACATTGGTCTTGCTCTCCCGGTGGATATAAATGATATATTCCAG___GTAAAGGATATTCCCTATTTTCAGACAAAAAACATACCACCACATGATGATCGAGGTGCAAGAGCATTTGCCCATGATGCAGGAG___GTCTTCCATCTGGAACTGGAGGTCTTGTAAAAAATTCTTTTCACTTGCTACGACAGCAGATGAGTCTTACGGAAATAATGAATTCAATCCATTCAGATGCCTCTCTGTTTTTAGAAAGTACAGAAGACACTGGACTACAGGAACATACAGATGATAACTGCCTTTATTGTGTCTGTATTGAAATTCTGGGTTTCCAGCCCAGCAACCAACTGAGTGCAATATGTAGTCATTCAG___ACTTTCAAGATATTCCATATTCTGATTGGTGTGAGCAGACTATCCATAATCCTTTAGAAGTGGTTCCCTCTAAGTTTTCGGGGATTTCTGGATGCAGTGATGGGGTGTCTCAAGAAGGCTCAGCTAGCAGCACCAAAAGCACAGAATTGTTACTAG___GTGTTAAAACAATTCCAGATGATACACCAATGTGCCGTATACTCCTTCGCAAAGAAGTTCTAAGATTAGTCATTAATTTGAGTAGTTCAGTTTCAACTAAATGTCATGAGACTGGGCTTTTAAC___AATTAAGGAGAAGTATCCTCAAACATTTGATGACATATGCCTTTACTCTGAGGTTTCCCATTTGCTGTCACACTGCACATTCAGACTTCCGTGTCGGAGGTTCATACAAGAATTATTTCAAGATGTACAGTTTCTACAA___ATGCATGAAGAAGCAGAGGCTGTGTTGGCAACACCACCAAAGCAACCTATAGTTGATACATCTGCTGAATCCTGACCTCATATTTATGATGGATATAGATACATACTATATATATTCATATTTGTGGATTTCCTAAAAGCCTCAGAAAATACGACTGACTAGGCAGCAAAGACAGGAGTATCTTCTGTACACTGTTCCGCAGTTACTGGTACATGAACAGTTGGAACTGCTGACTTTCCTAACCAAAACAACTTCCTTCTCTCCTTTGTTGAGCCTTTTGAGGGGTTCATGATTCATTACCACAGTTTTAAGAGTTTCAGTTACCATTGTATGCAAGAGCCAAGCACTGAATACCTACATAGGTTTTCTATTTTCTTTCATTTTAAAAGCATAATGACAGTGGAACAATAATGGGATATGCAGAAGCACCCTTCACAAGTTATTTCTGAATGATTTTTAGGGTAAATAATACAGATGCCTTGTTTGTTAACTAACTTGTGGAAAGCAGGAATCAGTGTCTCTAAGGCTGCATCCTATTACCACAATGGGGTGTGCTATAACTGCTGGTATTAGAGAGGGAACTTTGGCCCTTTCACGTTTTTCTTAATGTTTGTAACACTACTTCAGAGGTTTATAACCTCAAAGCAGAAGAAGAGCCTCAACAACCCGGGACTTATAAGTTATTTTTATGTTACTAGACTTGCATAAAGATTCTTGTTTTCCAACTCTTCATTTTGTTGCAATGTGTTATTACAGGATATATGAACCAATTAAGGTTTTTCACTACAGTTCTTGAATAAAATTTAAAAATCATTTTTTATTTTAATTAAAAATATTTCCCATTTATAGAATGCATATATTTGCAATGGACTTCCACTTTCATCAACTTTCCATCTCATCGCTTTAAACAGGAACTTGAACAAGCACTGTTAGTTTAGACCTAAAGGATAGGAAAGCATTAAATAATACTTTGGATCTCCTGAGGAAAAGATAAGTTTGCTTGCAATTTACACATTCCATGGGGAAAGAAGAGCCATATTTCCTTAAAAAAAACATTAATAAAGCTTGTTATTGAGAAAAATTGTAGTGAAAAGCCTTAAGTACCAAATTTTAAAGCAGCAGTAACTTAATTTTTATATCAGTGTTTTTGTTTTGCACAAACTAAATGCAGTGGTAGGTGGGTTTATGAGTATATTAATTGCCTTTATCCATTTGTGAAGTTAAGTTGATGAGGGCAAGGTTTTTGTTTGTTTAATTTGTATATGTCTAAAGGTATTTGGAACTTTTTACAGGAATTAAACATATATGCAAATTTGTATATAAAAATAGCATGGCCATCATTTGAATGCTTGTAAATGAAAGGATTATCTTTTTTGAGATCTATATATAAATAGAAATAGAAAATCCAGCTGGACTGATTAGGATTCTTTTTTAATTCATTTGTGTATAACATTTTTATTACAATTACACATCAGTTTTGACACAGTCATAGCAACATTAATATTTTCCCATGATGCAGATCCTTTTTGTAATGGGCTTGTTCTTTGAGATCTCTGTAAAGAACCCTGTGAACTAGAAAACATAACTCACAGAGATACTTTTTTAAAAAATTTATTTACTGGAACTGAAAGTTCCAGTTGGGATGAAGCATTTCATCTCACTTCATAACACCTCTTTGACTGCACTTCAGTGAATTGTTCTTATGTGCACTGTGTAGCAACTTACATTATAACAAAGCAGATAAGGGCTGTAAGCTGCTGCTTATGTTGAAAAGTGGTTCTTCAGATTTTCTCTCATAAAATCCAGTTGAAGATAAATAATTTTTTTATACTTTATCACTGAACCCAAGTGTTTATTTAAATGTCAACAGTACTTCTAAGAACGTTGCCTGTCATCGTGGTCTTTGGTCTTGGATAACTAAACTGCCTTTCCAGAGAACCAAATGTCAGAGTTACTAGACCAAATAGTGGTTAAAACCTCCAAAGGAAGTAATGTAATCTTATTCATAATGGGATTAACATATTTTAGACATTCATTTTAAACACTACCTCAGTTAATATAGAGTATAAAAATCTGTGGTTTAATCCCTCAAAAGTTAACAGTAATTTTTTTTTTGTCTTACACACACACACACCCCCTCCCCCACCATCACTATCCCTGTACCCTCACCTTGGTCATCTATCCTGAAATAAGGCTTAGTTAGTATTGGCCTGAATGTTTTGTGTTTTTTTTTTTGTTTTTTTTTTTTACTGTTACTTTGAAAAATATGTATGTATACCTTATCATATCTGCCTATATCACTTACTTTGGGGAGATACTCAGAGCTTTGTGGTTATCAGTATACTAAAAAAAAAAAAAAGTCTACGCTTAAATTTATAGTGCTATTTGGTTTCTCCATGATTTCACTGACAGGTCTAATACATTTTCTTTGAGTACTTGTTTGTAAAAAGTAGACTTTATGGTGAAAAATACATGCAGTGCCAAGTGATTAACTTAAGTGTTTAAAAATATTAAATTATAGCAGAAGAGGTTAGGAATGATATCAGCAGTAATAGAAATAATTGAGAAAATCATCTATAAATAATAGATATTACAGACTATAGAATACCAAAATAATGTCAATACTGTAGTTTTTAAAGATTTTAGGATTAATCTTAGTCCATATAAATTTGTACTATTGGTAATTATTGAATAATTGGGAGGAATCTGGGCAGTTGTGCTGGTTGTAAACTATGAATTTCTAATCGTAAAGTGAATTGTTATTTCTAATTGAACTTTTTTTCAAGAACAGATTTCAGCCTCACATACTAAGTAAATACTGATAAATAAGGAAATTAGAAATTTAGTATTCATAATTAAATATGCTCTAAAATTTCCTATACTTTTATTTCCTGTTTATTCTTAGGTAGATTGGAAGGGGGAAACAGTCTGTTCTCCCTAATTAAATTTTTTCTAATAACGATTAGTAGAATATGGACATTCTATATGACAGTGACATTAAAAGAGGCTCTTTGGAAGTATATACATTATTAACATAATGTGTACAAGTCCTTTTGAAATGACAACTTTAATGGGTTTCAGCTCTTTTATCTAGAGCTTGAGATAATTCAAGCTGAGTTTTTCAGGGCATATCACAACGGCCAAGTGTTCAGCAGTGGGATATCAATGCTTATTTACATTTTCCTACTGCTATTTATATAAAATGTTATTCCATTCAGAGGATGCCTTTTATCCCCACATTAAAGCACAGATCATTAAGCAATAAAAACCAAATTGTCTGTCATTCAAATTATAACTGCAGTTATTTTTGCATGGTAAGAGTGAGGTGCTAATTTTGTGTGAGATGAACTTTGTAAACTACTTTGGGAAATGTTCTTTGGAAGTAAGGTTTTTTCTCCTTTAGTCTTATGCTTCCACTTTTGTCTCAGATTCACAATCCATTAAAACATGGGGAAAAAAGAAAAGGTAAAATTGAGAGACTTTTGTTAGAGGAGCTATTTGGAATGAACCAACATTTCAGATTTTCCAAAATGTAAGTTAGGAAGTCTCCATTGTCTCTGCATTAACAAAATACACTGTTACTATCTTAATCTCAAGAGTGTCATTACAGTGAGAATCTCATTTAAAAGCATACCAGTGAAATTAATAGCAGTGCTTATCAAAGAACACTGAAATCTGTGAGAATCTTTCTAGGAGCATTCTTTTCTTCTTTTAGTTCCAAGTTCCAGGGTATTTTTCATTCCTAGTAGGTTTATATGACTCACAGAATGTGGACTTTTTTCCTGTTTGGAGTATTTTTGTAATGTAAGTATCGGATAGCTGCACCACAGCATGCATAAATTGCACATTTTGTTTTACTTTCTTTATAGAATATTTAATTTCAAAAATATAATTTATGCCAAAAAAAGCATACCTTTCAATTTTGCTACTTGGTTGATTTAGCACAAAATGCAAAGTCTTGGGGCAGAGAGGGGGAGTGAAAAAAATTTTATAGGTAATTGTTACAAAAATACCTGTCAGAAACCCTAAAGCTGCATTGTAAAACAAATGGTGTAAACTAGTTTTGAAAAGTGGTAAGGAATTGTGAAAAAAATCTCAGACTTAATGCTCTCTAACCACATGAGTTTCTTCTTTTTTATTTAGTAATACGCTGCTACATATTTGGAGGTTCTGGTGTTTGTAGGTCACTGAACAGACATTGAAATCTGATTTATATTGTATAACTGTAACATAGAAAGAAAAAGTATTTATATTTTTTCTGTAAGAATATTTCATTGAGTTGTGTATAATTTAAATAAGATTTGTCCCCAAATGGTTTTGCTCACCTTGATTTTTTTTGTTGTGATTTTCTTGTTTTTGTATAATGTGTATAGTTTATGTCAAGGGCATTAAAAGCCTCCTGAAGCATAATCTTATCAAAGGGATACATTGTTAATAAAATGTACTTAAAATTCTTAAA)$ . 20BR001 ENSG00000244627.5 ENSG00000172301.11 -/- -/- chr22:38367336 chr17:31852159 intron CDS translocation 0 1 1 4 183 medium . . . . . ENSG00000244627.5 ENSG00000172301.11 . ENST00000302362.11 upstream downstream . TTTTTTTTTGAGCCGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCCACTCAGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCGTGAGTAGCTGGGACTACAGGCACGCA|TTTGACGATGCTGAAGATTGAGTGTGGAGCTTTCTGCCTTGTAGGTGGGCGGGCCTCCACGTCAAGATCTCTTTTCCTGTCTTGGAGGTGAAAAGTCATATCTGAGAAAATGTTTGCAGTGACCCCTAGTCTGGGGTACACAGACC(AGTGTTCCTTATTGACAGTGTTCAATAAGGCCCCGTCATTCTCGCCAGTCTGTTGTTGTTCTTAATGGGCTCCTCCTTGAAATGTGTGTGTGTTTGTGTCAAGAGGAGTTGTGTTCTTTGTAAATAAAGGTTAAAAAGAGAAA)$ . 20BR002 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 24 36 0 127 126 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(10),inconsistently_clipped(4),low_entropy(1),mismatches(1) AAAAGAAGCAGGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAG(AACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 20BR002 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 18 13 0 51 42 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(8) CGACAGACCAtTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGAC(ACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 20BR002 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 7 19 0 90 33 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(5),low_entropy(1),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAA)CAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 20BR002 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 7 14 0 28 45 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(1),low_entropy(1),mismappers(1) CGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGAC(GACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 20BR002 ENSG00000163755.9 ENSG00000156931.15 +/+ +/+ chr3:149158846 chr3:184993983 CDS/splice-site CDS/splice-site deletion 13 7 0 54 127 high in-frame . Hermansky-Pudlak_syndrome_3(100%),Hermansky-Pudlak_syndrome_3__middle_region(100%)| . . ENSG00000163755.9 ENSG00000156931.15 ENST00000296051.7 ENST00000287546.8 downstream upstream duplicates(4) ^(GGAAGTAGTCCTACATTCGCGGTCAGCGCGGGGTCTCCGGGCGCCCTGCAGGGCGGGCAGGCTGTGCCATCCCGCCGGACGTCGGGATGGTGCAGCTGTACAACCTGCACCCGTTCGGGTCGCAGCAGGTGGTGCCCTGCAAGCTGGAGCCGGACCGGTTCTGTGGCGGGGGGCGTGACGCGCTTTTCGTGGCGGCGGGCTGCAAGGTGGAGGCGTTCGCGGTGGCCGGCCAGGAGCTGTGCCAGCCGCGGTGCGCCTTCTCCACGCTGGGCCGGGTGTTGCGCCTGGCCTACAGCGAGGCTG___GAGATTATTTGGTAGCAATTGAAGAGAAAAACAAAGCTACATTTCTACGTGCTTATGTGAACTGGAGAAATAAAAGGACTGAAAACTCTCGTGTGTGTATCCGAATGATTGGGCATAATGTGGAGGGACCATTCAGCAAAGCCTTCAGAGACCAGATGTACATTATTGAAATGCCGCTTTCGGAGGCCCCCTTGTGCATTTCCTGTTGCCCTGTGAAAGGAGACCTTCTCGTTGGCTGCACAAATAAATTAGTCTTATTTAGTTTGAAGTACCAGATCATTAATGAGGAATTCTCACTATTGGACTTTGAACGTTCTTTAATTATACACATAGATAATATCACTCCTGTTGAGGTTTCTTTTTGTGTTGGATATGTTGCTGTCATGTCAGACTTAGAAGTCTTAATCGTAAAACTGGAGTCAGGCCCTAAAAATGGAGAGAGAGTTCACCACCATCCACATAAGACCAACAATCGAATAAGACGGACAGAAGAAG___GCATCAGTAATGAAATTTCACAGCTTGAGTCAGATGATTTTGTCATCTGCCAGAAGCCCCTGGAACTTCTTGGTGAAAAAAGTGAACAGTCTGGATTATCTGTTACACTGGAGTCTACGGGATTAGCTGATGAAAAAAGAAAATATTCCCACTTTCAGCACCTGCTCTATAG___ACGTTTTGCTCCTGATATTTCGTCCTATGTCTTGTCTGATGACATCAAGCTACATTCCCTCCAGCTGCTACCCATTTACCAGACCG___GTTCTCTTACATCTGATGGAAAAAATTTGTCTCAGGAAAAAGAATTGCTGAGTCTCTTTTGCTTTTTCTCCTTACCTCATGTGGGCTATCTCTACATGGTTGTCAAATCTGTTGAATTGATGTCAGTCTACCAGTATCCTGAAAAGTCTCAGCAGGCAGTACTCACGCCACAATTTTTGCACGTCATTACAAG___TAACAACCTGCAGTGTTTCACTGTGCGGTGCAGTGCGGCGGCAGCTCGTGAGGAGGACCCGTACATGGACACCACCCTGAAG___GCTTGCCCACCTGTCAGTATGGATGTCTGTGCTTTAAGAATACAGCTTTTCATAGGCTTGAAAGCCATCTGTCACTTTAAAAACCACATCATACTTTTGACTAAAGCAGAACCTGAAGCCATTCCAGAGAGAAGACAGTCACCCAAGAGGCTTCT___TTCGAGAAAAGATACCAGTGTTAAAATCAAAATACCTCCTGTAGCTGAGGCTGGGTGGAATTTGTATATTGTGAATACGATCTCACCAGTGCAGCTGTACAAAGAGATG___GTAGACTATAGCAATACCTATAAGACTGTCAAAACCCAGAGCTGCATTCACCTTCTCAGTGAGGCTCATCTGTTAGTGCGAGCTGCCCTGATGGATGCCAGTCAGCTGGAACCTGGAGAGAAGGCAGAGCTTTTGGAAGCATTTAAGGAAAGCTGTGGGCACCTTGG)GGACTGTTACAGCAG___GCTTGACTCCCAGCATTCTCATCTCACCTTGCCATACTATAAGATGTCTGGTTTGTCTATGGCTGAAGTTCTGGCCCGCACGGACTGGACAGTAGAGGATGGATTACAGAAATACGAGAGAGGATTAATCTTTTACATTAATCATTCACTTTATGAAAACCTGGATGAAGAATTAAATGAA|GATCCAGTTTATGGAAAAGGAAAACTTGGAGAAATCCAGGGACTTATCTTGGGAATGTTAGATACCTTTAACTATGAACAA___ACCCTGCTGGAAACAACAACCAGCCTTCTAAACCAAGATCTCCATTGGTCATTGTGTAACCTGAGAGCTTCGGTCACCAGAGGACTGAATCCCAAACAAGATTACTGCTCTATATGTTTGCAGCAGTACAAGAGACGCCAAGAAATGGCTGATGAAATAATTGTCTTTAG___CTGTGGCCATTTG(TATCACTCATTCTGCCTACAAAACAAAGAATGCACTGTGGAATTTGAGGGCCAAACAAGATGGACATGCTACAAATGCAGTTCAAGTAACAAAGTAGGAAAACTCAGTGAAAATTCATCTGAAATTAAAAAGGGAAGGATAACCCCATCACAG___GTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAG___GGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGG___CTGGCTCTCCTCACGGAACTCTCCCAGAATCGCAGCAGCGAGAGCTATAGGCCATTCAGTGGCTCGCAGAGTGCTCCTGCTTTCAACAGCATCTTCCAGAATGAGAACTTCCAGCTGCAGCTCATTCCTCCACCTGTGACTGAGGATTGATGACTCCATGGAGCCTGGCCCAGGAGAACCAGAGATGATCCCGAGGCAGCTGGGGAGAGGCCCCGCCTCTGGTGGGCTTGGCCTCCACCACCTCCCACGCTTCTGAGAAGAGGTTCCAAATTGGGCTTCTGTGCCCAGAGCGTCCACAGCACCATTCCCAGTGTAGACTCCCAGTCTTCTCCACATTGCTGTCATGGCGTCAGTTCACCAGACTCATTGATTTTGTTTTGCTTGTTAAGCAAAGGAATGTCACATACCTCTGTCCAGCTTTTTAGGAAATACATTTCGCCTATTGCGACTTTTTCCATTTACCCTGAAGCCTAGAAAGTAGGTGGAACTCACACAAATGGCATTCCAGAGTCTGCCATACTCCGTCTCCTCCAGCTGCTGGATAATACAGAGGAACTTCAACTTCTACAGGGAACAGTGGTTGGCCAGGCTGCAGTATAACTGAAGCATGCCTTGGAGAGAGCAGACACTGTGGGGGCCAGGGCCATCTCCCTTTAATGTGTTCATGTTAAAACCTATTTGAGTGTAAGACTTGCCCTTTCTAACAATAAATGCTCCGTGTTTAAGTTCTGCAGGTCTC)$ MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFSTLGRVLRLAYSEAGDYLVAIEEKNKATFLRAYVNWRNKRTENSRVCIRMIGHNVEGPFSKAFRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKLVLFSLKYQIINEEFSLLDFERSLIIHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNGERVHHHPHKTNNRIRRTEEGISNEISQLESDDFVICQKPLELLGEKSEQSGLSVTLESTGLADEKRKYSHFQHLLYRRFAPDISSYVLSDDIKLHSLQLLPIYQTGSLTSDGKNLSQEKELLSLFCFFSLPHVGYLYMVVKSVELMSVYQYPEKSQQAVLTPQFLHVITSNNLQCFTVRCSAAAAREEDPYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLTKAEPEAIPERRQSPKRLLSRKDTSVKIKIPPVAEAGWNLYIVNTISPVQLYKEMVDYSNTYKTVKTQSCIHLLSEAHLLVRAALMDASQLEPGEKAELLEAFKESCGHLGDCYSRLDSQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQKYERGLIFYINHSLYENLDEELNE|DPVYGKGKLGEIQGLILGMLDTFNYEQTLLETTTSLLNQDLHWSLCNLRASVTRGLNPKQDYCSICLQQYKRRQEMADEIIVFSCGHLYHSFCLQNKECTVEFEGQTRWTCYKCSSSNKVGKLSENSSEIKKGRITPSQVKMSPSYHQSKGDPTAKKGTSEPVLDPQQIQAFDQLCRLYRGSSRLALLTELSQNRSSESYRPFSGSQSAPAFNSIFQNENFQLQLIPPPVTED* 20BR002 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 10 10 0 47 35 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(7),mismappers(1) GCACGATCTTAAGGACAGTCGCTCCCTGAACGCGGAGCCGGAGGAGACGAAGGGAAGGTGGAGCGGACGCCACCCGCGCACCGGGCAGGCGCGGAGACCGGCGTGGGACAGCCACCTGGAGCGCAGCTGCCAG___AAAGAAGGACTTTGCTGCTTTGGGCCAGGATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGtGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAGATTAT(GTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 20BR002 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 18 0 30 49 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(2),mismappers(2),mismatches(1) ACGCGCTCGGATGGGGCTTGTTCCCTAGCTCGGGAGCGTGTGGGCAGCAGCAGCGGCGGCGGCGGCGGCGGCGGCGGC??????AGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCT(GCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 20BR002 ENSG00000143252.15 ENSG00000238022.2 +/+ +/+ chr1:161328497 chr1:165218593 CDS/splice-site exon/splice-site deletion 9 6 1 373 35 high out-of-frame . Succinate_dehydrogenase/Fumarate_reductase_transmembrane_subunit(100%)| . . ENSG00000143252.15 ENSG00000238022.2 ENST00000367975.7 ENST00000441773.1 downstream upstream duplicates(5),mismatches(1) ^(ACTTCCGTCCAGAC)CGGAACCCAAGATGGCTGCGCTGTTGCTGAG___ACACGTTGGTCGTCATTGCCTCCGAGCCCACTTTAGCCCTCAGCTCTGTATCAGAAA___TGCTGTTCCTTTGGGAACCACGGCCAAAGAAGAGATGGAGCGGTTCTGGAATAAGAATATAGGTTCAAACCGTCCTCTGTCTCCCCACATTACTATCTACAG|CAGGGGCAGACCTGCCTGACTTGGATATCAGCTTCTCCATGAAAATATGCAGTGCCTAAAATTTACACTGATCGATTTGTTCACGAGAAAGGACATTTCTAAAAGAGCCAGGAGACTGCCCCCAGAACCAAGAGGAGTACTGGAGAGCAGAAGATGAAGAAAAACCTTTAAACAGCAGAGCAGTGAAGTGGAGGGAGAGGCGGCCCCTCTCCTTTGCCAGAGACTCCCACTCCCAGATGCAGGCTGGAGCGATC(CCTCATAATTTAAGCTGACACCCCTCAGCGGAGATGAAAGGAACACCACTCGCTGCTCTCCAACAACAAATGTCAGCATCCCTGGAGGCCGTTTAGACACAAACGCAGCATAAATCTGACTCCTAGTGGGGAAGTCCAGAGATTAAGTCTCCACACACAGCCTACCAGAGTGAAATGAATTTGCTTGGCACAAAGTTTGAACATGTTTCTCAGGGCCTTTCTTTCCCCTTTCTTGTAAAAAAAAAATCTGGAATGGTT)$ MAALLLRHVGRHCLRAHFSPQLCIRNAVPLGTTAKEEMERFWNKNIGSNRPLSPHITIYs|rgrpa* 20BR002 ENSG00000254986.7 ENSG00000173715.17 +/+ +/+ chr11:66485262 chr11:66838370 CDS/splice-site CDS/splice-site deletion/read-through 5 9 0 67 138 high in-frame . |Domain_of_unknown_function_(DUF4554)(99%) . . ENSG00000254986.7 ENSG00000173715.17 ENST00000532677.5 ENST00000540737.6 downstream upstream duplicates(1) ^(ATTACTCCTATTGTGTAGGTTCCCACCTGCAAGAGTGCTGTCGGGTCCTCTGAGGTGAAACCCCAAAGGAAAGCGGGATCGGGACTGGGGGAGGGGGATTCCCAAGTCCCTGACACCCGCGCCGTCTCGGCCTGGGCTTGGTGACCTCGTCAGTCCCGTCTGCCGGGACTAGGCCGCGGCCAGGCCGGGCACAGCGGTACCCGGTCCGGCGCGTGTGCGGCCTGCTGACAAAAGGCCGAGCCCGCAGGGCCAATCCGCGCGCCACCCCGTAGCGCCTGGGGGCGGGAGCGGGCGAGCCGAGAAGCTCGTCTTGGCGCGTCTATTGGCTGGTACTGACGCCCATCCGGACCCCGAGGCCAGGCAGTTGGCCAAGGGGGGCGGGGTTCGCAGAGCCCCAATGAATGGGGGAGCCGGAAGCAGGAAGTGAGTTTGCGAACGGAGCAGCTGCTGCAG___GGCCCATGGCGGACACCCAGTACATCCTGCCCAATGACATCGGCGTGTCTAGCCTGGACTGCCGTGAGGCCTTCCGCCTGCTGTCACCCACAGAGCGCCTCTATGCCTACCACCTGTCCCGTGCCGCCTGGTACGGAGGCCTGGCTGTGCTG)CTTCAGACCTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAGCCGCCTCTTCCGCGCCCAGGACCCCGACCAGCTGCGCCAACATGCCCTGGCTGAAGGCCTTACCGAGGAGGAGTATCAG___GCGTTCCTGGTCTATGCCGCGGGTGTTTACTCCAACATGGGCAACTACAAGTCCTTTGGTGACACCAAGTTTGTTCCCAACTTGCCCAAG|CTAACCCTAGAAAAAAAGGACTCAGCCCAGGGCACTGAGGACGCACCTGATAACAGCAGCCTGGAGCTCCTAGCAG___ATACCAGCGGGCAAGCAGAAAACAAGAGGCTCAAGAGGGGCAGCCCCCGCATAGAGGAG(ATGCGAGCTCTGCGCTCTGCCAGGGCCCCGAGCCCGTCAGAGGCCGCCCCGCGCCGCCCGGAAGCCACCGCGGCCCCCCTCACTCCTAGAGGAAGGGAGCACCGCGAGGCTCACGGCAGGGCCCTGGCGCCGGGCAGGGCGAGCCTCGGAAGCCGCCTGGAG___GACGTGCTGTGGCTGCAGGAGGTCTCCAACCTGTCAGAGTGGCTGAGTCCCAGCCCTGGGCCCTGAGCCGGGTCCCCTTCCGCAAGCGCCCACCGATCCGGAGGCTGCGGGCAGCCGTTATCCCGTGGTTTAATAAAGCTGCCGCGCGCTCACCA)$ MGEPEAGSEFANGAAAAGPMADTQYILPNDIGVSSLDCREAFRLLSPTERLYAYHLSRAAWYGGLAVLLQTSPEAPYIYALLSRLFRAQDPDQLRQHALAEGLTEEEYQAFLVYAAGVYSNMGNYKSFGDTKFVPNLPK|LTLEKKDSAQGTEDAPDNSSLELLADTSGQAENKRLKRGSPRIEEMRALRSARAPSPSEAAPRRPEATAAPLTPRGREHREAHGRALAPGRASLGSRLEDVLWLQEVSNLSEWLSPSPGP* 20BR002 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 7 6 0 109 31 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGA)GGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 20BR002 ENSG00000179134.15 ENSG00000146221.10 +/+ -/- chr19:39356808 chr6:44280390 5'UTR CDS/splice-site translocation 9 1 1 80 33 high . . |Leucine_Rich_repeat(100%) . . ENSG00000179134.15 ENSG00000146221.10 ENST00000314471.10 ENST00000371505.5 downstream downstream duplicates(3),mismatches(1) ^(GGTCGGTGCGGGAGGAGGGAGGGGAGCTTGCGGGCCCGAGAGGGGGCGACGGCGGCGGCGGTGGCCTGAGGAGGCCCGAGCGGCGGCGGTGGCGGCGAAGGCCGAGGCG___TCTAGGTGTTTTTGGAAGAGCTGCAGCCTTTGAAGAAACATCTCTTGATGATGATATCATAGACTCCTTCCTACTGGGCAGATGAGGCAGAATGGGGCACAG___TAGTTCCAGCAAAAATCCAGAGAGGACTATCCTTGGCCAGGCTTTACCCCATGTCCACTTCTGGAGCCAAGAAAGACAGTTCCTTCTCCAAGGGGAACCCAGGGTGTTGATACTAGAAGATGGAAATGGATACAGTAAGATGCTGCCACAGTGAGATGCCTCACCCAGGTCTCCCTCTGTCACTTCAGCCAAGCACATGGGATAGAAAGTAGCAGGCGGCCTCTGGCCCTTTAATGGAAGAGGGCCATCCAGTCCTCTCCAGTTAACATCTAGACCGAACACAAAGCATCCTTCTCTCATCCAGAAGACATAGGAACCCTACCTTCAGGGATGATTTTTTTTTAACAGTGAAATCTTAAAAGTAACTGTTTCACTAAAGCCTCCAGTATTTACTGAAGACTGTCAGAATCATCCTCCATCACTAGATCTTCTCCACCAGTCATGTTCCCTGAGCAGTGGGGTGGCTTGAAGGTATAAACCAGAGAGGCCCAAGGGAGGGATAGTTAGCAGACTTCTGGTCTTTTTCTAGTTTGTGCTCTTCTGTTCCAAGGACCACAG___)GATTCTTCTCATCGCAGTGCTCCAGGCAGCCACTACCAATCGATTGGAGTTAGCCTGTGAG___GAAACTGGAGAGGCGTGGCTGGACCAAGACCTCCCCCCATGTGAGCAGGCTTCCTCCTCCCCCAACAACCGTTGCCACCACGCCCAGAAACGTCCTTAAGCCCTGGCCCTCAGGGGAAAG|GACGGTGGGAAGCAGCTCCTGGAAGGCATGTCAGACAACAAGACCCTCCTGGAATTTGACTTGCGCCTGTCAGATGTGGCCCAGGAAAGCGAGTACCTCATTGGCCAGGCCCTCTACGCAAACCGAGAAGCAGCCCGCCAGCGGGCCCTGAATCCCAGCCACTTCATGTCAACCATcACTGCCAATGGCCCTGAGAACTCTGTGGGATAAAATGACCTGACTTGGATCATGGCCCCAGCCCCATCCCTCATTTCATACCCCTGCCATGCCTGCTGCAGAGTATCACACTGGTTCAGAGGGAGCGGGGAGGGG(GACTGTGAATAACCTTGGAGTGATCAAGGGTTGTATGGATGGAGACATGAGGCAGGGAAGGGAGCCTGGCATGGGGGAAGAAAGGGTATGCAGTAGGGACCCAGCCTTTGTGCCCAGGGAAAGGATATTACTGGACACCCACAAATGACCAACTTCTTTCAGGAACAGGGAAGTCAGAGAGGTGTCTGAGGGACTGTGCCTGCCAGATTCTCCCGTTGGGGCTGCCTGCCTCCCTGACTCCCCACCATTTTCTTCTCTACCAAACAGATCCTTGATCTTCAAACACACACACACACACACACACACACACACACACACACACACACACACCCTCTGGCTACAGCAGGGCTATGCCTGGCTCTCTCTGCCACCCTCATCCCTGTAGATGCATTTCCCTGTTGCTTGACTCTGCTTTAAGTGATCCAGTTCTACAGGCCACGCCATCCCCTAGTTCCCCAACTCCCAACCTGGGAAGGGGACAATGAGCTGACACCAGGGGCTCAGACCCAGTGGACTCCTCTGGGGAGGCAACTGTAGATGACAACTTCCAGGGAAGGATGACACAATCCCTGCCACCCACCCCAGAGAGCTTCCCTGGGAGGGAGGGAAAGAAGTGCCACACTGGGACAGGAAGTCAGTGAGTCATCCACGACTTTATTATCCACCAGTTTGATTTGTACAATCTTTGCGCTTAAATCCACGACAAAAAGGCCACAGTGTGATGCACCCAATTGACAGAGACCTGTCTTCTCCCCAGCCAGGCCCAGCCCACCCCACAAGCCCTTGTCCCCAGGACACATGGAGCCTTCCAGGTGCCCTACATGAGTCCCCCATCACTCTGTAGCTGTCCACCCTGGGGCCACACCTACAGGAATCACATCAGCCCCCAGGGCCACAAGAGACCTAGCTGACTGATTCAGGCTGAGCGCCATTGCCCATCCTCCTTGGGCTGATTCATTGGCCCAGAGCCTCCAGAACTGTGTCCCCAAAGGGCAGGTCATGGGCTACAACCCCAGTCCAGGAGTGCCTGCTCTCCAGGGACTCCTTCCGCTAAGCAGGCGCTGAGCAGAGCACCAAAGGGGGCTTGGGAGTGACTGCATGTGTGTGCCTGTCTAGGCAACCTAGAGTCTGTCTGTGCCTGACACCCTCTGACAGTTCCGGAGTGCAAACGTGTAGGTGTGAGGGTGTGTGTGTGTGTGTGTGTGTGTATAGCCACAGCTGCTAGCAGAAGTTCTAATTAGAGAAACAAGAACATTCAGTGTAAAGTTTAATTTTAGAGATTAATTAATTTTCTGGTTTTCATTTTCCCTGGCAATCAGTAAAGCTACCAAGAAAATAGACCAAA)$ . 20BR002 ENSG00000262943.7 ENSG00000170004.17 +/+ +/+ chr17:6892075 chr17:7893805 exon/splice-site CDS/splice-site deletion 7 3 0 16 53 high . . |CHDCT2_(NUC038)_domain(100%),Chromo_(CHRromatin_Organisation_MOdifier)_domain(100%),Domain_of_Unknown_Function_(DUF1086)(100%),Domain_of_Unknown_Function_(DUF1087)(100%),Helicase_conserved_C-terminal_domain(100%),PHD-finger(100%),SNF2_family_N-terminal_domain(100%) . . ENSG00000262943.7 ENSG00000170004.17 ENST00000574727.5 ENST00000380358.9 downstream upstream . ^(ACTGGAGAAGCTGAAGGTCTGCTTCCGGGAGATGCTCCCGACTTCACCTGGAGCTGAGTCAAGTTAGAGAACCGGACCAAGCGAAATACAGGGGCAGAGGAGGCAGCAGGGAGGCCCTGGGAGCTCTTTGAATCCCCAGGTAGCCTATTCCTGCCTGGCACCACTGGGATTCATCAGGAGGGAGGCCAGAGGAGCAGGAG___GTGGGAGGCGGAAAGCCTCGGGCAAGTTTTCAAGCCCGTCCTCTGT)CTGGAAACAGACTCAGAGGTGTTGCAGGGGACACGGTGGGAGTGAGACCAGCCCTTCGGTGTGCGTGGGATCTGGGGGAGGCCTGTGACTGCCGGCTTTCCCCTGCTTCTCTGACAACCTGCATGACTCAGCAGAGGCAGCCATAATCCTGGAGAGCCCCGGTTTAAGATCTCCAGGTGAAGTAGATTTTTATT___TCAGAACCTTCAGGAAGGGGAGAGTGGCTCATGGGCTGAGTGGATAAACCACAAAATGGGTAATATACTATAG|GTCCAGGCCATAAGAGGCGGAGTAAGAGCCCCCGAGTGCCTGATGGACGCAAGAAGCTTCGGGGAAAGAAAATGGCACCACTCAAAATAAAACTAGGGCTTCTGGGTGGCAAGAGGAAGAAAGGAGGCTCG___TATGTTTTTCAGAGCGACGAAGGTCCTGAACCAGAGGCTGAGGAATCAG(ACCTGGACAGTGGCAGTGTCCACAGTGCCTCAGGCCGGCCTGATGGCCCTGTCCGCACCAAGAAACTAAAGAGAGGCCGGCCAGGAAGGAAGAAGAAGAAGG___TCCTGGGCTGTCCTGCAGTGGCCGGGGAGGAGGAGGTTGATGGCTACGAGACGGATCACCAGGATTACTGTGAGGTGTGCCAGCAGGGTGGGGAAATTATTCTGTGTGACACCTGCCCTCGTGCCTACCACCTCGTCTGCCTTGATCCTGAGCTTGACCGGGCTCCAGAGGGCAAATGGAGCTGCCCTCACTGT___GAGAAGGAGGGGGTCCAGTGGGAGGCCAAGGAGGAAGAAGAAGAATACGAAGAGGAGGGAGAGGAAGAAGGGGAGAAGGAGGAGGAGGATGATCACATGGAGTACTGCCGCGTATGCAAGGACGGCGGGGAGCTCCTGTGCTGTGACGCGTGCATCTCCTCCTACCACATTCATTGTCTAAACCCTCCCCTGCCTGACATTCCCAATGGTGAATGGCTGTGTCCCCGATGCACA___TGCCCCGTGCTGAAGGGTCGAGTGCAGAAGATCCTACATTGGCGGTGGGGGGAGCCACCTGTAGCAGTGCCAGCCCCTCAACAGGCAGATGGAAATCCAGATGTCCCACCCCCCCGTCCTCTTCAAGGCAGATCAGAGCGAGAGTTCTTTGTCAAGTGGGTAGGACTATCCTACTGGCACTGCTCCTGGGCCAAGGAGCTTCAG___CTGGAAATCTTCCATTTGGTTATGTATCGAAACTACCAGCGGAAGAATGACATGGATGAGCCCCCACCCCTGGACTATGGCTCCGGCGAGGATGATGGGAAGAGCGACAAGCGTAAAGTGAAAGACCCGCACTATGCTGAGATGGAGGAGAAGTACTATCGTTTTGGCATCAAGCCAGAGTGGATGACCGTCCACCGCATCATCAACCACAG___TGTGGATAAAAAGGGGAATTACCACTATCTAGTAAAATGGAGGGACTTACCATATGACCAGTCCACGTGGGAGGAAGATGAAATGAATATCCCTGAATACGAAGAACATAAGCAAAGCTACTGGAGACACCG___AGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGAT___CCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAG___GGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAG___AGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAG___TTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAA___CAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAA___GAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATG___GAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAG___ATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATG___CTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAG___GCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGG___GGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAG___ATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAG___ACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAG___GGCGTAGACAGTCAAAGAGGCAGCTCCGGAATGAGAAAGATAAGCCACTGCCTCCACTGCTGGCCCGAGTCGGGGGCAACATTGAG___GTGCTGGGCTTCAACACCCGTCAGCGGAAGGCTTTCCTCAATGCTGTGATGCGCTGGGGGATGCCACCACAGGATGCCTTCACCACACAGTGGCTGGTGCGGGACCTGAGGGGCAAGACTGAGAAGGAGTTTAA___GGCCTATGTGTCTTTGTTCATGCGCCATCTGTGTGAGCCTGGGGCAGACGGCTCTGAAACCTTTGCCGATGGGGTCCCTCGGGAGGGACTGAGTCGCCAGCAGGTGTTGACCCGCATTGGAGTCATGTCTCTCGTCAAAAAGAAG___GTGCAGGAGTTTGAGCACATCAATGGGCGTTGGTCAATGCCGGAACTGATGCCTGACCCCAGCGCCGATTCTAAGCGCTCCTCCAGAGCCTCCTCTCCTACCAAAACGTCTCCCACCACTCCTGAGGCTTCTGCTACCAACAGTCCCTGCACCTCTAAACCTG___CTACTCCAGCTCCAAGTGAGAAAGGAGAAGGCATAAGGACACCTCTTGAGAAGGAGGAAGCTGAAAACCAGGAGGAAAAGCCAGAGAAGAACAGCAGAATTGGGGAGAAGATGGAGACAGAG___GCTGATGCCCCCAGCCCAGCCCCATCACTTGGGGAGCGGCTGGAGCCAAGGAAGATTCCTCTAGAGGATGAGGTGCCAGGGGTGCCTGGAGAGATGGAGCCTGAACCTGGGTACCGTGGGGACAGAGAGAAGTCAG___CCACAGAGTCGACGCCAGGAGAAAGGGGGGAGGAGAAGCCGTTGGATGGACAGGAACACAGGGAGAGGCCGGAGGGGGAAACAGGGGATTTGGGCAAGAGAG___AAGATGTAAAAGGTGACCGGGAGCTTCGACCAGGGCCTCGAGATGAGCCACGGTCCAATGGGCGACGAGAGGAAAAGACAGAGAAGCCCCGGTTCATGTTCAATATCGCCGATGGTGGCTTCACAG___AGCTTCACACACTGTGGCAGAATGAGGAACGGGCAGCTATTTCCTCGGGGAAACTCAATGAGATCTGGCACAGAAGACATGACTATTGGCTTCTGGCTGGGATTGTCCT___CCATGGCTATGCACGGTGGCAGGACATCCAGAATGATGCTCAATTTGCCATTATCAACGAGCCATTTAAAACTGAAGCCAATAAGGGGAACTTTCTGGAGATGAAAAATAAGTTCCTGGCCCGGAGGTTCAAG___CTCCTGGAGCAGGCGCTGGTGATTGAGGAGCAGCTGCGGCGGGCGGCCTACCTGAACCTGTCGCAGGAGCCGGCGCACCCCGCCATGGCCCTCCACGCCCGCTTCGCCGAGGCCGAGTGCCTGGCCGAGAGCCACCAGCACCTCTCCAAGGAGTCGCTGGCGGGGAACAAGCCGGCCAACGCCGTCCTGCACAAGG___TTCTGAACCAGCTGGAGGAGTTGCTGAGCGACATGAAGGCGGACGTGACCCGCCTGCCAGCCACGCTGTCCCGAATACCCCCCATCGCAGCCCGCCTTCAGATGTCCGAGCGCAGCATCCTCAGCCGGCTGGCCAGCAAGGGCACGGAGCCTCACCCCACACCG___GCCTACCCGCCGGGTCCCTACGCTACACCTCCGGGGTACGGGGCGGCCTTCAGCGCCGCACCCGTAGGGGCCCTGGCCGCCGCAGGCGCCAATTACAGCCAGATGCCTGCAGGGTCCTTCATCACAG___CCGCCACCAACGGCCCTCCAGTGCTTGTGAAGAAGGAGAAGGAAATGGTGGGGGCATTGGTGTCAGACGGGCTGGATCGGAAGGAGCCCCGAGCCGGGGAGGTGATCTGTATAGACGACTGACTGGATCCCAGGCCTGCCCTTCACCCAGGCCCCGTCCCCGAGGCCGACCCCCAGCTCAAGCGCTGGGGCCTGCTGCCAGCCCTCCACCTTCCCCACCCCTTGGGCCATCACTGGGCTAGGAACCCCTTTGCCCCTCTCTGCAGCTCCTCTCTTCAAGAAGGGCCCTTTGTCTTTCTCCACTCCCACACACCTTTCCCACCAAGCCTTGAAGACTGTGCTGGTGAGAAGAAGTCTGGGTGGGAGATGGCTGGCAGGGTCTTCCAAGTACCTTCCTCCCACACTGCCAAGTATACACAACTTCCCAGTAAATGGTTGTGGGGAGGAAAGAGGTGGAGCCTCCCCAGCCGTTTCCCTGCAGAATCAGCTCTGTCTCATGTGGAAGTGGAGAATCAGCCTTGCCTGGCCTTTAGGAACTTTTGTGGGGAAGAGAGCTTTGAAGAGAGGAGGGGGACTTTAGAGAGGGATGAAAATGAGCCCTGGGAGGGAGGAAGGGACGAGGAGGGGTGGCTGCATGTTACCGTCCCCTACCTCTCCCCACGTGGAGGGTGGAGCAGTTATGAGGGAGGAAGTCAACTGCTGTTCAGCCTCAGAATAAAGGTGCCGTTCACTGGCTCAGTTACCTCCTGTGTACCGGCATCTTGTGTTGGGAATGTTCCCCCCTCCCTAGGGACCAAGGACCACCCCTACAAAAAGAGTAATGGTTGGGTGATACTCCCTCAAGCCAAAGAGGAGCTCCCCAACCTGTTCTAGGGACCCAGGTAACCTAGAAGGGTGGGAGAGAATACAATGGGCCAGATGTGGTGGAAGCCCAGCTCTGGGGCTCAGGTTCCTGGAAGACTTCTACTACCCTCCCTCCTCAAGGCCTGGATACAGACTAAATTTGTATAAGTCAGGCAGGGGACCTAGTCAGGGTCTTGGGAGCTACCTTGTCGTTGGGACCAGAGCAAAATAGTGGAGGGCAGGCTAGGGAAATGTGGGCACATCCCCCCTCCCAGGAGGGGCCGGGGAGAGTGGCAGTTTGCATGGCGAACCCCCCACTTCCTCTTTGCTGCCCCTTCACTTTCTTGCTGCCCCTTTCCCAGTCTCTCTTCACACCCACTCCTGGTCTGTCCTGATCCCCTCTTCTGTATCAGGTTTATTGGTTGTACATATAAATTATACTTTCCTTTC)$ . 20BR002 ENSG00000144674.16 ENSG00000154447.15 +/+ -/- chr3:37273601 chr4:169156679 CDS/splice-site CDS/splice-site translocation 2 4 0 50 29 high in-frame . |SH3_domain(100%),Variant_SH3_domain(100%) . . ENSG00000144674.16 ENSG00000154447.15 ENST00000356847.8 ENST00000284637.14 downstream downstream duplicates(1) ^(GCAAGCGCCCTTGGCGCACAGTTCACCTGCTGCCGTTGTCGTCGCCGCCGCGGCTCCCGGGGCTGGATGGGGGGCCGAGGCCAGCCAGTGGCACCCGGAAGAAAGAGACGCGGCGGCGGCGACGCCGACACCCTCAGGACGAGTGTCCGGACTTGCCCACAGCCTCAAGGAGGAGACGGCGAGGCCCGGCCCCCGCTGTCCCTGGTGTAAAGAAGTCGCCGTAGCCGTCGCGGCCGGGACTCCCCGGGCTCTCGCCCTTCAGGTTTCGTTGACACTCAGGACCGTACGTACGCTGCGCCATGTTCAAGAAACTGAAGCAAA)AGATCAGCGAGGAGCAGCAGCAGCTCCAGCAGGCGCTGGCTCCTGCTCAG___GCGTCCTCCAATTCTTCAACACCAACAAGAATGAGGAGCAGGACATCTTCATTTACAGAGCAACTTGATGAAGGTACACCCAATAGAGAG___AATGCATCTACTCATGCCTCGAAATCTCCTGACAGTGTTAATGGAAGTGAACCAAGCATTCCTCAG|GGTATACCTCAGTTACCATGTGCCAAAGCATTATACAACTAcGAAGGAAAAGAGCCTGGAGACCTTAAATTCAGCAAAGGTGACATCATCATTTTGCGAAGACAAGTGGATGAAAATTGGTACCATGGGGAAGTCAAT(GGAATCCATGGCTTTTTCCCCACCAACTTTGTGCAGATTATTAAACCGTTACCTCAGCCCCCACCTCAGTGCAAAGCACTTTATGACTTTGAAGTGAAAGACAAGGAAGCAGACAAAGATTGCCTTCCATTTGCAAAG___GATGATGTTCTGACTGTGATCCGAAGAGTGGATGAAAACTGGGCTGAAGGAATGCTGGCAGACAAAATAGGAATATTTCCAATTTCATATGTTGAG___TTTAACTCGGCTGCTAAGCAGCTGATAGAATGGGATAAGCCTCCTGTGCCAGGAGTTGATGCTGGAGAATGTTCCTCGGCAGCAGCCCAGAGCAGCACTGCCCCAAAGCACTCCGACACCAAGAAGAACACCAAAAAGCGGCACTCCTTCACTTCCCTCACTATGGCCAACAAGTCCTCCCAGGCATCCCAGAACCGCCACTCCATGGAGATCAGCCCCCCTGTCCTCATCAGCTCCAGCAACCCCACTGCTGCTGCACGGATCAGCGAGCTGTCTGGGCTCTCCTGCAGTGCCCCTTCTCAG___GTTCATATAAGTACCACCGGGTTAATTGTGACCCCGCCCCCAAGCAGCCCAGTGACAACTGGCCCCTCGTTTACTTTCCCATCAGATGTTCCCTACCAAGCTGCCCTTGGA___ACTTTGAATCCTCCTCTTCCACCACCCCCTCTCCTGGCTGCCACTGTCCTTGCCTCCACACCACCAGGCGCCACCGCCGCTGCTGCTGCTGCTGGAATGGGACCGAGGCCCATGGCAGGATCCACTGACCAGATTGCACATTTACGGCCGCAGACTCGCCCCAGTGT___GTATGTTGCTATATATCCATACACTCCTCGGAAAGAGGATGAACTAGAGCTGAGAAAAGGGGAGATGTTTTTAGTGTTTGAGCGCTGCCAGGATGGCTGGTTCAAAGGGACATCCATGCATACCAGCAAGATAGGGGTTTTCCCTGGCAATTATGTGGCACCAGTCACAAG___GGCGGTGACAAATGCTTCCCAAGCTAAAGTCCCTATGTCTACAGCTGGCCAGACAAGTCGGGGAGTGACCATGGTCAGTCCTTCCACGGCAGGAGGGCCTGCCCAGAAGCTCCAGGGAAATGGCGTGGCTGGGAGTCCCAGTGTTGTCCCCGCAGCTGTGGTATCAGCAGCTCACATCCAGACAAGTCCTCAGGCTAAGGTCTTGTTGCACATGACGGGGCAAATGACAGTCAACCAGGCCCGCAATGCTGTGAGGACAG___TTGCAGCGCACAACCAGGAACGCCCCACGGCAGCAGTGACACCCATCCAGGTACAGAATGCCGCCGGCCTCAGCCCTGCATCTGTGGGCCTGTCCCATCACTCGCTGGCCTCCCCACAACCTGCGCCTCTGATGCCAGGCTCAGCCACGCACACTGCTGCCATCAGTATCAGTCGAGCCAGTGCCCCTCTGGCCTGTGCAGCAGCTGCTCCACTGACTTCCCCAAGCATCACCAGTGCTTCTCTGGAGGCTGAGCCCAGTGGCCGGATAGTGACCGTTCTCCCTGGACTCCCCACATCTCCTGACAGTGCTTCATCAGCTTGTGGGAACAGTTCAGCAACCAAACCAGACAAGGATAGCAAA___AAAGAAAAAAAGGGTTTGTTGAAGTTGCTTTCTGGCGCCTCCACTAAACGGAAGCCCCGCGTGTCTCCTCCAGCATCGCCCACCCTAGAAGTGGAGCTGGGCAGTGCAGAGCTTCCTCTCCAGGGAGCGGTGGGGCCCGAACTGCCACCAGGAGGTGGCCATGGCAGGGCAGGCTCCTGCCCTGTGGACGGGGACGGACCGGTCACGACTGCAGTGGCAGGAGCAGCCCTGGCCCAGGATGCTTTTCATAGGAAGGCAAGTTCCCTGGACTCCGCAGTTCCCATCGCTCCACCTCCTCGCCAGGCCTGTTCCTCCCTGGGTCCTGTCTTGAATGAGTCTAGACCTGTCGTTTGTGAAAG___GCACAGGGTGGTGGTTTCCTATCCTCCTCAGAGTGAGGCAGAACTTGAACTTAAAGAAGGAGATATTGTGTTTGTTCATAAAAAACGAGAGGATGGCTGGTTCAAAGGCACATTACAACGTAATGGGAAAACTGGCCTTTTCCCAGGAAGCTTTGTGGAAAACATATGAGGAGACTGACACTGAAGAAGCTTAAAATCACTTCACACAACAAAGTAGCACAAAGCAGTTTAACAGAAAGAGCACATTTGTGGACTTCCAGATGGTCAGGAGATGAGCAAAGGATTGGTATGTGACTCTGATGCCCCAGCACAGTTACCCCAGCGAGCAGAATGAAGAAGATGTTTGTGTGGGTTTTGTTAGTCTGGATTCGGATGTATAAGGTGTGCCTTGTACTGTCTGATTTACTACACAGAGAAACTTTTTTTTTTTTTTAAGATATATGACTAAAATGGACAATTGTTTACAAGGCTTAACTAATTTATTTGCTTTTTTAAACTTGAACTTTTCGTATAATAGATACGTTCTTTGGATTATGATTTTAAGAAATTATTAATTTATGAAATGATAGGTAAGGAGAAGCTGGATTATCTCCTGTTGAGAGCAAGAGATTCGTTTTGACATAGAGTGAATGCATTTTCCCCTCTCCTCCTCCCTGCTACCATTATATTTTGGGGTTATGTTTTGCTTCTTTAAGATAGAAATCCCAGTTCTCTAATTTGGTTTTCTTCTTTGGGAAACCAAACATACAAATGAATCAGTATCAATTAGGGCCTGGGGTAGAGAGACAGAAACTTGAGAGAAGAGAAGTTAGTGATTCCCTCTCTTTCTAGTTTGGTAGGAATCACCCTGAAGACCTAGTCCTCAATTTAATTGTGTGGGTTTTTAATTTTCCTAGAATGAAGTGACTGAAACAATGAGAAAGAATACAGCACAACCCTTGAACAAAATGTATTTAGAAATATATTTAGTTTTATAGCAGAAGCAGCTCAATTGTTTGGTTGGAAAGTAGGGGAAATTGAAGTTGTAGTCACTGTCTGAGAATGGCTATGAAGCGTCATTTCACATTTTACCCCAACTGACCTGCATGCCCAGGACACAAGTAAAACATTTGTGAGATAGTGGTGGTAAGTGATGCACTCGTGTTAAGTCAAAGGCTATAAGAAACACTGTGAAAAGTTCATATTCATCCATTGTGATTCTTTCCCCACGTCTTGCATGTATTACTGGATTCCCACAGTAATATAGACTGTGCATGGTGTGTATATTTCATTGCGATTTCCTGTTAAGATGAGTTTGTACTCAGAATTGACCAATTCAGGAGGTGTAAAAATAAACAGTGTTCTCTTCTCTACCCCAAAGCCACTACTGACCAAGGTCTCTTCAGTGCACTCGCTCCCTCTCTGGCTAAGGCATGCATTAGCCACTACACAAGTCATTAGTGAAAGTGGTCTTTTATGTCCTCCCAGCAGACAGACATCAAGGATGAGTTAACCAGGAGACTACTCCTGTGACTGTGGAGCTCTGGAAGGCTTGGTGGGAGTGAATTTGCCCACACCTTACAATTGTGGCAGGATCCAGAAGAGCCTGTCTTTTTATATCCATTCCTTGATGTCATTGGCCTCTCCCACCGATTTCATTACGGTGCCACGCAGTCATGGATCTGGGTAGTCCGGAAAACAAAAGGAGGGAAGACAGCCTGGTAATGAATAAGATCCTTACCACAGTTTTCTCATGGGAAATACATAATAAACCCTTTCATCTTTTTTTTTTTCCTTTAAGAATTAAAACTGGGAAATAGAAACATGAACTGAAAAGTCTTGCAATGACAAGAGGTTTCATGGTCTTAAAAAGATACTTTATGTGGTTGAAGATGAAATCATTCCTAAATTAACCTTTTTTTTAAAAAAAAACAATGTATATTATGTTCCTGTGTGTTGAATTTAAAAAAAAAATACTTTACTTGGATATTCATGTAATATATAAAGGTTTGGTGAAATGAACTTTAGTTAGGAAAAAGCTGGCATCAGCTTTCATCTGTGTAAGTTGACACCAATGTGTCATAATATTCTTTATTTTGGGAAATTAGTGTATTTTATAAAAATTTTAAAAAGAAAAAAGACTACTACAGGTTAAGATAATTTTTTTACCTGTCTTTTCTCCATATTTTAAGCTATGTGATTGAAGTACCTCTGTTCATAGTTTCCTGGTATAAAGTTGGTTAAAATTTCATCTGTTAATAGATCATTAGGTAATATAATGTATGGGTTTTCTATTGGTTTTTTGCAGACAGTAGAGGGAGATTTTGTAACAAGGGCTTGTTACACAGTGATATGGTAATGATAAAATTGCGATTTATCACTCCTTTTCATGTTAATAATTTGAGGACTGGATAAAAGGTTTCAAGATTAAAATTTGATGTTCAAACCTT)$ MFKKLKQKISEEQQQLQQALAPAQASSNSSTPTRMRSRTSSFTEQLDEGTPNRENASTHASKSPDSVNGSEPSIPQ|GIPQLPCAKALYNYEGKEPGDLKFSKGDIIILRRQVDENWYHGEVNGIHGFFPTNFVQIIKPLPQPPPQCKALYDFEVKDKEADKDCLPFAKDDVLTVIRRVDENWAEGMLADKIGIFPISYVEFNSAAKQLIEWDKPPVPGVDAGECSSAAAQSSTAPKHSDTKKNTKKRHSFTSLTMANKSSQASQNRHSMEISPPVLISSSNPTAAARISELSGLSCSAPSQVHISTTGLIVTPPPSSPVTTGPSFTFPSDVPYQAALGTLNPPLPPPPLLAATVLASTPPGATAAAAAAGMGPRPMAGSTDQIAHLRPQTRPSVYVAIYPYTPRKEDELELRKGEMFLVFERCQDGWFKGTSMHTSKIGVFPGNYVAPVTRAVTNASQAKVPMSTAGQTSRGVTMVSPSTAGGPAQKLQGNGVAGSPSVVPAAVVSAAHIQTSPQAKVLLHMTGQMTVNQARNAVRTVAAHNQERPTAAVTPIQVQNAAGLSPASVGLSHHSLASPQPAPLMPGSATHTAAISISRASAPLACAAAAPLTSPSITSASLEAEPSGRIVTVLPGLPTSPDSASSACGNSSATKPDKDSKKEKKGLLKLLSGASTKRKPRVSPPASPTLEVELGSAELPLQGAVGPELPPGGGHGRAGSCPVDGDGPVTTAVAGAALAQDAFHRKASSLDSAVPIAPPPRQACSSLGPVLNESRPVVCERHRVVVSYPPQSEAELELKEGDIVFVHKKREDGWFKGTLQRNGKTGLFPGSFVENI* 20BR002 ENSG00000185420.19 ENSG00000237922.1(51636),ENSG00000186197.15(9661) -/- ./- chr1:246327201 chr1:236338596 CDS/splice-site intergenic deletion 4 2 0 243 4 high out-of-frame . MYND_finger(100%),SET_domain(100%)| . . ENSG00000185420.19 . ENST00000490107.6 . upstream downstream . ^(AGCCCGTGAGACGCCCGCTGCTGGACGCGGGTAGCCGTCTGAGGTGCCGGAGCTGCGGGAGGATGGAGCCGCTGAAGGTGGAAAAGTTCGCAACCGCCAAGAGGGGAAACGGGCTGCGCGCCGTGACCCCGCTGCGCCCCGGAGAGCTACTCTTCCGCTCGGATCCCTTGGCGTACACGGTGTGCAAGGGGAGTCGTGGCGTCGTCTGCGACCGCTGCCTTCTCGG___GAAGGAAAAGCTGATGCGATGCTCTCAGTGCCGCGTCGCCAAATACTGTAGTGCTAAGTGTCAG___AAAAAAGCTTGGCCAGACCACAAGCGGGAATGCAAATGCCTTAAAAGCTGCAAACCCAGATATCCTCCAGACTCCGTTCGA)CTTCTTGGCAGAGTTGTCTTCAAACTT___ATGGATGGAGCACCTTCAGAATCAGAGAAGCTTTACTCATTTTATGATCTGGAGTCAA___ATATTAACAAACTGACTGAAGATAAGAAAGAGGGCCTCAGGCAACTCGTAATGACATTTCAACATTTCATGAGAGAAGAAATACAGGATGCCTCTCAGCTGCCACCTGCCTTTGACCTTTTTGAAGCCTTTGCAAAA|AGACGGGGTCTTGCTAAGTTGATCAAGCTGGTCTTAAACTCCTGACCTCAAGCTGTCCTCCTGCCTTGGCCTCCTAGAGTGTTGGGATTACAGGCATAAACCGCTGCGCCCAGACCTGGAATCATGTATTCTAAACCTAACAAGGCGGGTTGTTGCACTG MEPLKVEKFATAKRGNGLRAVTPLRPGELLFRSDPLAYTVCKGSRGVVCDRCLLGKEKLMRCSQCRVAKYCSAKCQKKAWPDHKRECKCLKSCKPRYPPDSVRLLGRVVFKLMDGAPSESEKLYSFYDLESNINKLTEDKKEGLRQLVMTFQHFMREEIQDASQLPPAFDLFEAFAK|rrglakliklvlns* 20BR002 ENSG00000093167.18 ENSG00000129116.19(26226),ENSG00000145439.12(32907) -/- ./+ chr3:37148894 chr4:168954683 CDS/splice-site intergenic translocation 1 3 0 138 6 high out-of-frame . . . . ENSG00000093167.18 . ENST00000354379.8 . upstream upstream duplicates(1) ^(GTCGTCGACCCTGTGGCCCCGCCCATCCTTCGCCTCCTCAGTCGGCCGCTCAGGCTGCGGCTCCTCCCGGGGCCGGTTCCCGCTGTCTCAGCCGCGGCGCAGAGGGCACATCGGCCTGACCGACTAGCCGGCTGCCAGTGCCGGGAGCCGCCGCGTCCATCCCCGCCCGCCTGGCCGGGGACCCAGGACTGAGTCGTCCAGCTGCGCCCCTCGCCCATAGCCCCAGCGGGCGCCGGGCGGGCGAGCAGCTCTTCGGCCCTTCCCGGACAGCGACGCAGTCGCAGCGCGCGCCCTAACACAG___ATGTGGGAAGATAAATGAAGGGGTCTAGATGTAAATGTCAGTGGAAAGGAGAGCTACCATCACTAAG___GGCTGAAAACACAGTTA)AATCACTTTCAAAGTTAAAAGACTATTAAGAACACAAGATGGGGACTCCTGCTTCTGGAAGGAAAAGAACACCTGTGAAAGACCGATTTTCTGCAGAAGATGAAGCTTTGAGTAACATTGCCAGAGAG|AAAGTTACTTGAAGATGTACTCCACCAAATGAAGTCATAAACCATGAAAAGGAAGACATGAGATCCATGGAAGAGAGGATCCAACGTATTAGATAGGCAAAGAAAATCCACAAGATGATACCGCCCCTAAACAACAGCTAT MGTPASGRKRTPVKDRFSAEDEALSNIARE|kvt* 20BR002 ENSG00000159445.13 ENSG00000143669.14 -/- -/+ chr1:151888273 chr1:235836647 CDS/splice-site intron inversion/5'-5' 1 2 0 29 3 high out-of-frame . Thioesterase_superfamily(100%)| . . ENSG00000159445.13 ENSG00000143669.14 ENST00000368814.8 . upstream upstream . ^(GGTAGAGTGCGCCGTCCAGGGCTAGAGCAAGCGCGGCCCCGCGGCCCGGAGCCATGCTGAGGAGCTGCGCCGCGCGCCTCCGCACGCTGGGGGCTCTGTGCCTGCCGCCAGTAGGCCGGCGCCTGCCGGGAAGCGAGCCGCGACCCGAGCTG___AGGTCATTTTCTTCTGAGGAAGTCATTCTTAAGGACTGTTCTGTCCCCAACCCCAGCTGGAACAAGGACCTAAGACTGCTCTTTGACCAGTTTATGAAGAAATGTGAAGACGGCTCCTGGAAACGTTTGCCTTCATATAAACGTACACCTACTGAATGGATTCAAGACTTCAAAACCCATTTTCTTG___ACCCAAAGCTTATGAAAGAAGAACAAATGTCACAGGCCCAGCTCTTCACCAGAAGCTTTGATGATGGCCTGGGCTTTGAATACGTGATGTTCTACAATGACATTGAGAAAAGGATGGTTTGCTTATTTCAAGGAGGCCCTTACCTGGAAGGACCA)CCTGG___ATTCATTCATGGAGGTGCCATTGCAACCATGATTGATGCTACTGTTGGTATGTGTGCAATGATGGCTGGGGGAATCGTCATGACTGCCAATCTCAACATCAATTATAAAAG|GAACTAAAGTAAGCATGGAAAGAGGAAATAGAAGTGTTCCCCTGAAACCATTTCTCCCCAAGAATGCAAGTCCCTCCCAATGCCCACCCAAAAAAGACTATAAGGTTTTTTAGCCTGTGTGAAGAATAGTACTGTTTACTGATAGGTAAGACTGACATAAGAACAGTTGTGAGGGAAAATAACGTTCAG MLRSCAARLRTLGALCLPPVGRRLPGSEPRPELRSFSSEEVILKDCSVPNPSWNKDLRLLFDQFMKKCEDGSWKRLPSYKRTPTEWIQDFKTHFLDPKLMKEEQMSQAQLFTRSFDDGLGFEYVMFYNDIEKRMVCLFQGGPYLEGPPGFIHGGAIATMIDATVGMCAMMAGGIVMTANLNINYKr|n* 20BR002 ENSG00000173599.15 ENSG00000133884.10 -/- +/+ chr11:66952430 chr11:65348850 5'UTR/splice-site CDS/splice-site inversion 1 2 0 12 83 high . . |PHD-finger(100%) . . ENSG00000173599.15 ENSG00000133884.10 ENST00000393958.7 ENST00000528416.6 upstream upstream . ^(GTTCTCTGTCAGTGGAGGC)AGCAGCGGTAGAGGCGGCGGCGAGGACTGGCGACGGCGAGGAG___ATAGTGTCTGCCTTCTGGAGAGCTGACCAAACACTAAGG|GACCAGTTGCTCTTCTGTGATGACTGCGATCGTGGCTACCACATGTACTGTCTCACCCCGTCCATGTCTGAGCCCCCTGAAG___GAAGTTGGAGCTGCCACCTGTGTCTGGtCCTGTTGAtAGAGAAAGCTTCCATCTACCAGAACCAGAACTCCTCTTGATGTGGCCACCCACCTGCTCCCCGACATATCTAAGGCTGTTTCTCTCCTCCACaTCATATTTCATACCCATCTTTCCCTTCTTCCTCCTCTCCTTCACAAATCCAGAGAACCTTGGGGTGGTTGTGCCAGCCTGCCTTTGGCAGCTGCAAGCTGAGGTGGCAGCTCTGAC(CACCTCTGGCCCCAGGCCCTCAGGGAGAAAGGAGCAACACACTGCCCCTAGGCGTGCGTGTGGCCCAGTTTCTCTCTGCTCTCCATTAAGTGCATTCACTCTGCTTGCCTTGGGCCCAGCCCCTGGTGATCACAGGGTTCAAACAGTGTCCTCCTAGAAAGAGTGGGAGAGCAGCTCACTTCTCTGTGTTCTGCCTCCCCTCTGGTCTCCAGAGTTTTCCTGTCCTCTAGAGGCAAGCCAGGCCAGGGAGCTGGGAGCGAGCAAGCTGAGGCCACGTCCACAAGGAGCTTTTCATGCCCCTGTGCCGCATAGCCTCACCTCTTTCCTCCAGAGTGGCTCTCTGCGGCCCTGTGTTCCTGCTACAGAGTGTTCTTTTCTGGAGTCAGGATGTTCTCGGTCACCCTCCTGGTTCTGCCCTGTCCCATTCCACCCCACCCCAGGGGGAACAGTAGCTTCACCTTGTTATTCCCATTGCTCTCCTGGCTCACTCTTACGGTCGGTCTCCAGTGACTGAAGCATTCCCCACCCTTGGAATTTCTCATCTTCTGCCTCCCTTCCTACTCCTTTTGGTTTTGTGGGGAGAGGGGAAGGATCAGGGGGCCAGGCCAGCAGCTCGGGGGCCACAAGGAGATGGATAATGTGCCTGTTTTTTAACACAACAAAAAAGCCTACCTCCAAAATCCCCTTTTTGTTCTTCCTGGACCTGGGCATTCAGCCTCCTGCTCTTAACTGAATTGGGAGCCTCTGCCACCTGCCCCGTGTATCCTGGCTCTCAGCTCATGGGGAAGCCACATAGACATCCCTTTCTTCCCTTGCACGCTCGCTAGCAGCTGGTAAGGTCTTCACACCCTGATTCCTCAAGTTTTCTGCTTAGTGGCACTGACATTAAGTAGTGGGGGGACAGTCCATGCCAGGACACCCTGGAGTAGCCTTCCCCCTTGGCCGTGGGCAGGCCCTAACTCACTGTCGCTTTGGAGTTGAGGTGTCTTTTTTTTTTCTTTCTTTAGTTCCTGTATTCTAAACATTAGTAAAAATAAATGTTTTTACACAGAGCCCTCTGCTGGATGGTTTATCTCCTGCCTTTCTCCATTAAGAAGGCCATTTCATCCTAAGATTTCCATGATGGTGGTTTTTTTTTTTAATGTTTTGAAATACAGCTTTTTTCCCCCCAAATTAAAATTTTTTTGTGGAACCCCAATATGTAAAGCGAATATAAAATTGGTTATTTTGTTTTGTTACATAAATTCAAGTTTATAACAATTCTTTGTTATAAAGAACAATGAAGCTGTTTTGATCAATACAAAATTTGGGTTAAAATCAACTTTAACATCTATTTTTATGTTTCAGTTGATTTGGAGAATTCTCCTAGTCTTGGATACATAGATGGAAGTGATGACAGGTTTATAACAGTTGACCTTGCAATCTCAGACATTTAAAACAGGACCAGAAGTTTATATAAATATAATTAATAAGCAAACTAATGACATCACCATGGGACACACACAAAAGTTCTTGCAGGAGCAGGGTCTGTGTGGCTTCAGTTGCCTGCAGCGCTCCCAGGCCAGAGCAAGTGCTCTAGGATCTGAACTGCCCGCAGTGCAGCCCTGCAGCCTTTCCCAGGGCACGTTGATGTGCACACAGTTTCCCTGAAGGCAAAGTGAACATGTGGAGAGCTTACGTGGCAGCGCGTATGTCTTCAGTGTGTGTTTTAGAAGTCCAACTGTTGTTTTTATGTTTTTAAAGGAAAGATTTGAATCAAGCAGTTATGGGCCCCCTGAAGTATCCTTTTTTCTAGAACATTCTGAAAGTCATCCTTGCCTATGGGAAGCCTAGGCCGGCCTGCACTGTTATGTTCAATAAATAAGCAGGGTGCTCTGGGCTGGGGATTGTGTGAGGAGCAGAGCGCAGCCCGTCCTCATGCTTTTCCACTGAAGTAGGCCAGGCAGAGAGGGAGTACAGCAATGGATGCGCTTTGGCAGCTGAGTAGTCCGAGAGCCAGAAAAGAAATGTGGAAAATAAGAACGCTGTAGCAGGCCTAGGTGAGGAAATTTAGGAAGGGTTTGCGGGAGGTAGGATTTGAGATGGGTCTTGGAGAGTTGGACAGTGTCAGCCGGTAGGACGGGGGTGCGGACGGAAGCCTGTGAGGAAGGCAGAGGATGCGGAGCTGTGAGCGGAGGGAGCAGCGAGGCTGGAGAGCAGCTGGGCTGCGGGTCAAGACGTCTGCGTTTAATTCGGGACTGAAGGTTAGCAGGGAAGGGAACGATGCCAGATCTTGAGTTTAAGAACTTGAATCTTGTAAAGTACCAAATCTAATAAAATACTCGTCCTAAATCA)$ . 20BR002 ENSG00000156831.8 ENSG00000229140.10 +/+ -/+ chr8:125151277 chr8:129331279 CDS/splice-site intron deletion/5'-5' 2 1 0 162 12 high out-of-frame . . . . ENSG00000156831.8 ENSG00000229140.10 ENST00000287437.8 . downstream upstream . ^(CTCACTTTTCAGCGGCAGGCGAAGGGGGCTGAGGAAAGGAGGTGGGTCTAGGCAGGGGAAATTGGGGTGCCACCAGACGGAGACAGCTTGGACTACCAG___AATCAAGCACTCTTTTGGAAGAGGGTAATCTCTCTCCAAAAACTGAGGACACTTACCTTCCCCATATATTGAGTCCAGCTGTGTTTGGTGGCCCAG___GTACTAATTTCAAGATGCCAGGACGTTCCAGTTCAAATTCAGGTTCAACTGGTTTCATCTCCTTCAGTGGTGTAGAGTCTGCTCTCTCCTCCTTGAAAAACTTCCAAGCCTGTATCAACTCTGGTATGGACACAGCTTCTAGTGTTGCTTTGGATCTT)GTGGAAAGTCAGA___CTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCAT|GCCTTCGATGAATTGGACGATGTCCACCCACATGGTGAGGGCAGATCTTTCTTACTCCACCCACCGATGCAGATGTCAATCTCTTCTGGAAGCACTTTCAAGG MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQTEVSSEYSMDKAMVEFATLDRQLNHYVKAVQSTINH|afdelddvhphgegrsfllhppmqmsissgstfk 20BR002 ENSG00000249859.11 ENSG00000164961.16 +/+ -/- chr8:127794734 chr8:125084022 exon/splice-site 5'UTR/splice-site inversion 2 1 0 60 61 high . . . . . ENSG00000249859.11 ENSG00000164961.16 ENST00000651587.1 ENST00000318410.12 downstream downstream . ^(AGAGCGCGTGTGGCGGCCGAGCA)CATGGGCCCGCGGGCCGGGCGGGCTCGGGGCGGCCGGGACGAGGAGGGGCGACGACGAGCTGCGAGCAAAGATGTGCCCCGGGACCCCCGGCACCTTCCAGTGGATTTCCTTGCGGAAAGGATGTTGGCGGTCCCTGTGACCTGTGGAGACACGGCCAGATCTGCCCTCCA|GTTCTTTAATGGAGGAGCCAATCTCTCTGCACACCTGGTTTCATCTAATAATATACAGACACCAGCTCTGAGGCCAGTTAATCATCCCCAGTGTCCAGGCACAGAGTAGTCGGTCCGCCTCACAATGTcGGACTTTCTAGCCGAGAACAACCTCTGTGGCCAAGCAATCCTAAGGATTGTTTCCTGTGGTAATG(CCATCATTGCTGAACTTTTGAGACTCTCTGAGTTTATTCCTGCTGTGTTCAGGTTAAAAGACAGAGCTGATCAACAGAAATATGGAGATATCATATTTGATTTCAGCTATTTTAAG___GGTCCAGAATTATGGGAAAGCAAACTGGATGCTAAGCCAGAGCTACAGGATTTAGATGAAGAATTTCGTGAAAACAACATAGAAATTGTGACCAGATTTTATTTAGCATTTCAAAGTGTACATAAATATATTGTAGACTTAAACAG___ATATCTAGATGATCTCAATGAAGGGGTTTATATTCAGCAAACCTTAGAAACTGTGCTTCTCAATGAAGATGGAAAACAACTTCTA___TGTGAAGCACTGTACTTATATGGAGTTATGCTACTGGTCATTGACCAAAAGATTGAAGGAGAAGTCAGAGAGAGGATGCTGGTTTCTTACTACCGATACAG___TGCTGCTCGATCTTCTGCTGATTCAAATATGGACGATATTTGTAAGCTGCTTCGAAGTACAGGTTATTCTAGCCAACCAGGTGCCAAAAGACCATCCAACTATCCCGAGAGCTATTTCCAGAGAGTGCCTATCAACGAATCCTTCATCAGTATGGTCATTGGTCGACTGAGATCTGATGATATTTACAACCAG___GTCTCAGCGTATCCTTTGCCGGAGCATCGCAGCACAGCCCTGGCAAACCAAGCTGCCATGCTGTACGTGATTCTCTACTTTGAGCCTTCCATCCTTCACACCCATCAAGCAAAAATGAGAGAGATAGTGGATAAATACTTTCCAGATAATTGG___GTAATTAGTATTTACATGGGGATCACAGTTAATCTAGTAGATGCTTGGGAACCTTACAAAGCTGCAAAAACTGCTTTAAATAATACCCTGGACCTTTCAAATGTCAGAGAACAG___GCAAGCAGATATGCTACTGTCAGTGAAAGAGTGCATGCTCAAGTGCAGCAATTTCTAAAAGAAGGTTATTTAAGGGAGGAGATGGTTCTGGACAATATCCCAAAGCTTCTGAACTGCCTGAGAGACTGCAATGTTGCCATCCGATGGCTGATGCTTCATACAGCAGACTCAG___CCTGTGACCCAAACAACAAACGCCTTCGTCAAATCAAGGACCAGATTCTAACAGACTCTCGGTACAATCCCAGGATCCTCTTCCAGCTGCTGTTAGATACTGCACAATTTGAGTTTATACTCAAAGAG___ATGTTCAAGCAAATGCTTTCAGAAAAGCAAACCAAATGGGAGCATTACAAGAAAGAGGGTTCGGAGCGGATGACTGAGCTTGCTGATGTCTTTTCAGGAGTGAAACCCCTAACCAGAGTGGAGAAAAATG___AAAACCTTCAAGCTTGGTTCAGAGAGATCTCAAAACAAATATTGTCTTTAAATTATGATGATTCTACTGCTGCGGGCAGAAAAACTGTACAACTGATACAAGCTTTGGAAGAG___GTTCAAGAATTCCACCAGTTGGAATCCAATCTGCAAGTATGTCAGTTTCTTGCCGATACTCGAAAGTTTCTTCATCAAATGATCAGAACCATTAACATTAAAGAGGAGGTTCTGATCACAATGCAGATCGTTGGGGACCTTTCTTTCGCTTGGCAGTTGATTGACAG___TTTCACATCCATCATGCAAGAAAGCATAAGGGTAAATCCATCCATGGTTACTAAACTCAGAGCTACCTTCCTAAAG___CTTGCCTCTGCCCTCGATCTGCCCCTTCTTCGTATTAATCAGGCAAATAGCCCCGACCTGCTCAGCGTGTCACAGTACTATTCTGGAGAGTTGGTATCCTATGTGAGAAAA___GTTTTGCAGATCATCCCAGAAAGCATGTTTACATCTCTTCTAAAGATCATAAAGCTTCAGACCCACGACATTATTGAAGTGCCTACCCGCCTGGACAAAGACAAGCTGAGGGACTATGCTCAGCTAGGCCCACGATACGAG___GTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAG___GTGGATCCAAAGCAGTTGCTGGAAGATGGAATAAGGAAAGAGCTTGTGAAGCGCGTTGCCTTTGCCCTGCATAGGGGACTGATATTCAACCCTCGAGCCAAG___CCAAGTGAATTGATGCCCAAGCTGAAAGAGTTGGGAGCGACCATGGATGGATTCCATCGTTCTTTTGAATACATACAGGACTATGTCAACATTTATGGTCTGAAGATTTGGCAGGAAGAAGTATCTCGTATCATAAATTACAACGTGGAGCAAGAGTGTAATAACTTTCTAAGAACGAAG___ATTCAAGATTGGCAAAGCATGTACCAGTCCACTCATATTCCAATACCCAAGTTTACCCCTGTGGATGAGTCTGTAACGTTTATTGGTCGACTCTGCAGAGAAATCCTGCGGATCACAGACCCAAA___AATGACATGTCACATAGACCAGCTGAACACTTGGTATGATATGAAAACTCATCAGGAAGTGACCAGCAGCCGCCTCTTCTCAGAAATCCAGACCACCTTGGGAACCTTTGGTCTAAATGGCTTAGACAGGCTTCTGTGCTTTATGATTGTAAAAGAGTTACAG___AATTTCCTCAGTATGTTTCAGAAAATTATCCTGAGAGACAGAACTGTTCAGGACACTTTAAAAACCCTCATGAATGCTGTCAGTCCCCTAAAAAGTATTGTCG___CAAATTCAAATAAAATTTATTTTTCCGCCATTGCCAAAACACAGAAGATTTGGACTGCGTATCTCGAGGCTATAATGAAG___GTTGGGCAGATGCAGATTCTGAGACAACAGATTGCCAATGAATTAAATTATTCTTGTCGGTTTGATTCTAAACATCTGGCAGCTGCTCTGGAGAATCTCAATAA___GGCTCTCCTAGCAGACATTGAAGCCCACTATCAGGACCCTTCACTTCCTTACCCCAAAGAAGATAACACACTTTTATATGAAATCACAGCCTATCTGGAGGCAGCTGGCATTCACAACCCACTGAATAAG___ATATACATAACAACAAAGCGCTTACCCTATTTTCCAATTGTAAACTTTCTATTTTTGATCGCTCAGTTGCCAAAACTTCAATACAACAAAAATCTGG___GAATGGTCTGCCGAAAACCGACCGACCCGGTTGATTGGCCACCACTTGTCCTGGGACTGCTCACTCTGCTGAAGCAGTTCCATTCCCGGTACACCGAGCAGTTCCTGGCGCTGATTGGCCAGTTTATCTGCTCCACGGTGGAGCAGTGTACAAG___CCAGAAGATACCTGAAATTCCTGCAGATGTTGTGGGTGCCCTTCTGTTCCTGGAGGATTATGTTCGGTACACAAAGCTACCCAGGAGG___GTTGCTGAAGCACATGTGCCTAATTTCATTTTTGATGAGTTCAGAACAGTGCTGTAACTGTTTTTCCTACTTCTTCAATGGAAGGATTGTCCTTAGATCTTCCCACCATCACAAATGAATTTGAAGATGAAAAGAAACTCAGTTGCTCATACAACTGCATTTTTTCTGTCTATTATGGGAAACATCAGACGTTCTGAGTAAGATATATCTCATGGCATTAGTTAATATAACTGATATTGTTTAAATCATGGTATTACATGCAATTTATATCAGATAAAAGCAGAACACATTTTTGTACTGCCTCTCTTAAATGCTGAATGTAACTGTTATGTATAAATCCATTTAGTTTTATGTTCTAAAGAACTATTTGTGCAACTCCAGATTTTCAGTAAAATAGTATTACTAGTACCCAAA)$ . 20BR002 ENSG00000164961.16 ENSG00000159720.12 -/- -/- chr8:125091615 chr16:67453715 5'UTR/splice-site CDS/splice-site translocation 1 2 0 69 79 high . . |ATP_synthase_(C/AC39)_subunit(100%) . . ENSG00000164961.16 ENSG00000159720.12 ENST00000318410.12 ENST00000290949.8 upstream downstream duplicates(1) ^(GCTTCGGTCATGTGACCGCCTGGGGAGTCAGGGGCGGAAGTCGGGGTCTGACCCGCTCCAGGTCCGGGACTGCGGATAGAAG)AGGACCGCCGCCTTGAGGGAGGGGTGGAAACTGGGTGCCGGCTCCGCGCGCGACCTCCGGCCCTGCGCGTGCGCCGTGGCGCGGCCCGGCTGACAG|ACTTGAAACTGCATCTGCAGAGCACTGATTATGGTAACTTCCTG(GCCAACGAGGCATCACCTCTGACGGTGTCAGTCATCGATGACCGGCTCAAGGAGAAGATGGTGGTGGAGTTCCGCCACATGAGGAACCATGCCTATGAGCCACTCGCCAGCTTCCTAGACTTCATTAC___TTACAGTTACATGATCGACAACGTGATCCTGCTCATCACAGGCACGCTGCACCAGCGCTCCATCGCTGAGCTCGTGCCCAAGTGCCACCCACTAGGCAGCTTCGAGCAGATGGAGGCCGTGAACATTGCTCAGACACCTGCTGAGCTCTACAATGCCATTCTGGTGGACACGCCTCTTG___CGGCTTTTTTCCAGGACTGCATTTCAGAGCAGGACCTTGACGAGATGAACATCGAGATCATCCGCAACACCCTCTACAAG___GCCTACCTGGAGTCCTTCTACAAGTTCTGCACCCTACTGGGCGGGACTACGGCTGATGCCATGTGCCCCATCCTGGAG___TTTGAAGCAGACCGCCGCGCCTTCATCATCACCATCAATTCTTTCGGCACAGAGCTGTCCAAAGAGGACCGTGCCAAGCTCTTTCCACACTGTGGGCGGCTCTACCCTGAGGGCCTGGCGCAGCTGGCTCGGGCTGACGACTATGAACAGGTCAAGAACGTGGCCGATTACTACCCG___GAGTACAAGCTGCTCTTCGAGGGTGCAGGTAGCAACCCTGGAGACAAGACGCTGGAGGACCGATTCTTTGAGCACGAG___GTAAAGCTGAACAAGTTGGCCTTCCTGAACCAGTTCCACTTTGGTGTCTTCTATGCCTTCGTGAAGCTCAAGGAGCAGGAGTGTCGCAACATCGTGTGGATCGCTGAATGTATCGCCCAGCGCCACCGCGCCAAAATCGACAACTACATCCCTATCTTCTAGCGTCCTGGCCCAAGGCTCTCAATTGCACTCTTTGTGTGTGTGTGTGTGTGTGTGCGCGTGTGTGTGCGTGTGTGTGTATGTGGTCTGTGACAAGCCTGTGGCTCACCTGCCTGTCCGGGGTGTAGTACGCTGTCCTAGCGGCTGCCCAGTTCTCCTGACCCTCTTAGAGACTGTTCTTAGGCCTGAAAAGGGGCTGGGCACCCCCCCCCACCAAGGATGGACGAAGACCCCCTCCAGAGCAAGGAGGCCCCCTCAGCCCTGTGGTTACAGCCGCTGATGTATCTAAGAAGCATGTCACTTTCATGTTCCTCCCTAACTCCCTGACCTGAGAACCCTGGGGCCTGGGGGCAGTTTGAGCCTCCTCTCCCTTCTGTGGGTCGCTCCCAGAGCCATGGCCCATGGGAAGGACAGAGTGTGTGTGTCCTTGGGGCCTGGGGGGATGTTGCTCCTCAGCTCCCTCCCTCAGCCCTGCCCCTCTGAGACAATAAAACTGCCCTCTCTAAGGCCAA)$ . 20BR002 ENSG00000179104.9 ENSG00000188676.13 +/+ +/+ chr12:82687669 chr8:39979067 CDS/splice-site CDS/splice-site translocation 1 1 0 24 7 high out-of-frame . . . . ENSG00000179104.9 ENSG00000188676.13 ENST00000321196.8 ENST00000502986.2 downstream upstream duplicates(1),inconsistently_clipped(1) ^(GAGAACCCCACGCGGGAGCTTCTGGAGTCTCCAGCCACCGCTTCTCACTTCACTGGAGAAGGGAGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGAGGGAGCTAATAAACATTGAATGTGCAGCAGCTGCCTTGGCGGCCGGAGTCCGCCCGAGCGACACCGGAGCAGTGCGCCCGGGAGGCGGCGAGGGGAGGCGGTTCGCCTTGTCCCTCCCACCCGCGCCTCTTTCTCTCTCTTCCTCCAGCTGGTCCCAGAGCCCGGCTTGGTCCGGTCCCTCTGCCCCCATCCCGCACCCTTCCACCTCCTCCGAGTCCCACTCCTCACCTAGGACGCCCCAAACTGCCATGGGTTAGGGTGGGGATCGCGACCCGCGCGAAAGACCAGCCCTGCGCTTCCGCCGGGGGACGCGGAGCCCAAACGCCGCTCACCGCTTGCGGGCGCCGGGCATGGGGAGTGTGGTGTGAGCCCGCACCCGGGGAGGACGCAGGAGCTGCGGAGACGGGCGCGAGGAGGAGGAGAGGAGTCGTGGATTGGAAGGACCCGAGGGAGGGAGGGTGGGGAAGCGAGGGAAAAGTGAAGCTGGGAGGAGAAGGCGGCGGAAGGTGGAGATTGATGCTTCTGTTTTTTGTTGCCGCTGCTGCCCTCGCGCTGGGAGCCGAGCCGG)AGGGAAGGCGGTGGAGAGATGATTGCAGtGTTGGTGAGCAGCGCTCTGGGGCTCGCCTTGTATCTCAACACCCTGAGTGCGGATTTCTGCTATGATGACAG|ATGCCCCTGCTGAGCTGCCAGTTCCTGAAGGGTCACCGGGAGCAGCGCCTGGCCCACCTGGTCCTGAGCTTCCTCACCATGGGTTATGTCTGGCAGGAAGGAGAGGCGCAGCCTGCAGAG___GTCCTGCCAAGGAATCTTGC(CCTTCCATTTGTCGAAGTCTCCAGGAACTTGGGGCTCCCTCCTATCCTGGTCCACTCAGACTTGGTGCTGACGAACTGGACCAAAAAAGATCCAGACGG___ATTCCTGGAAATTGG___GAACCTGGAGACCATCATCTCATTTCCTGGGGGAGAGAGCCTGCATGGTTTTATACTGGTGACTGCTTTGGTAGAGAAAGAAGCAGTGCCTGGGATAAAG___GCTCTTGTTCAGGCCACGAATGCTATCTTGCAGCCCAACCAGGAGGCCCTGCTCCAAGCCCTGCAGCGACTGAGACTGTCTATTCAGGACATCACCAAAACCTTAGGACAGATGCATG___ATTATGTAGATCCAGACATATTTTATGCAGGCATCCGGATCTTTCTCTCTGG___ATGGAAAGACAACCCAGCAATGCCTGCAGGGCTGATGTATGAAGGAGTTTCCCAAGAGCCCCTGAAATACTCCGGCGGGAGTGCAGCTCAGAGCACAGTGCTTCATGCCTTTGATGAGTTCTTAGGCATTCGTCATAGCAAGGAAAGTG___GTGACTTTCTGTACAGAATGAGGGATTACATGCCTCCTTCCCATAAGGCCTTCATAGAAGACATCCACTCAGCACCTTCCCTGAGGGACTACATCCTGTCATCTGGACAGGACCACTTGCTGACAGCTTATAACCAGTGTGTGCAGGCCCTGGCAGAGCTGCGGAGCTATCACATCACCATGGTCACCAAATACCTCATCACAGCTGCAGCCAAGGCAAAGCATGGGAAGCCAAACCATCTCCCAGGGCCTCCTCAGGCTTTAAAAGACAGGGGCACAGGTGGAACCGCAGTTATGAGCTTTCTTAAGAGTGTCAGGGATAAGACCTTGGAGTCAATCCTTCACCCACGTGGTTAGGAGGCTGCCCTCTCCCCAGCAATGCAGAGCCCCCATGGAGGGCAGGTGGGCCTGGAGAATGAGGGTCAGGGTTCTGCCTGGGATCATCCAGGAAGGATCTCAGCCCTATTCATGTTTCTGCTCTACAGAGCACTATATTCTCCTTGTTGAGAGCTGTTGGCTTCACAAAGGAGAGTTGATGTGGCCAAGCCTTTCCCTCCCTACCTGATCACTGCTTAACGGCATGTATAATGGATACTTCCTCATGCAGAACCCCCAGAGGAGTGACTGTATGCCATTCTCTTTGCCAAGTAATAGAAAACCAATCTAAATGTCAAAAATCAGATAAAATTGCCTGGGGATACATTACTTGTTGATTTTCTTAAAAAACAAATTCACTTAACAATTCATTAAGTTCATACTGAGCACTGCCTCCAAGATTAAAACCAGGATTTCTGTGGTCCCAGACCAGCCCTCTTCTCCCTGAATGTGTTGAGTTGGTGGCAGGAGGTTGGAAATGCTCCAGTGGAGATGGGAAGATAGAGGATGCTGACAATAAGGACTTGGAAGTCACTAGTGTGAAAATGAGCAGTTAATGATATGGGAACGGATGAGACTTTCCACGTGGTACCTAGATTTGCAAATTCTATTGTAATGCCTTTATTTTTAGAAGAATTATTCTCTCTTCTTACTCTGAAAATCTGTATTTGTAAAATGAATGAATGGATCCTATATAAGTAAATAAGAAAACTGGGAATAAGTAGTAAATCAATGTGTTTAGTGTGCAAATAAATGTAAATGCTTTTATTG)$ MIAvLVSSALGLALYLNTLSADFCYDDr|cpc* 20BR002 ENSG00000179104.9 ENSG00000188676.13 +/+ +/+ chr12:82687669 chr8:39982652 CDS/splice-site CDS/splice-site translocation 2 0 0 24 17 medium out-of-frame . . . . ENSG00000179104.9 ENSG00000188676.13 ENST00000321196.8 ENST00000502986.2 downstream upstream . ^(GAGAACCCCACGCGGGAGCTTCTGGAGTCTCCAGCCACCGCTTCTCACTTCACTGGAGAAGGGAGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGAGGGAGCTAATAAACATTGAATGTGCAGCAGCTGCCTTGGCGGCCGGAGTCCGCCCGAGCGACACCGGAGCAGTGCGCCCGGGAGGCGGCGAGGGGAGGCGGTTCGCCTTGTCCCTCCCACCCGCGCCTCTTTCTCTCTCTTCCTCCAGCTGGTCCCAGAGCCCGGCTTGGTCCGGTCCCTCTGCCCCCATCCCGCACCCTTCCACCTCCTCCGAGTCCCACTCCTCACCTAGGACGCCCCAAACTGCCATGGGTTAGGGTGGGGATCGCGACCCGCGCGAAAGACCAGCCCTGCGCTTCCGCCGGGGGACGCGGAGCCCAAACGCCGCTCACCGCTTGCGGGCGCCGGGCATGGGGAGTGTGGTGTGAGCCCGCACCCGGGGAGGACGCAGGAGCTGCGGAGACGGGCGCGAGGAGGAGGAGAGGAGTCGTGGATTGGAAGGACCCGAGGGAGGGAGGGTGGGGAAGCGAGG)GAAAAGTGAAGCTGGGAGGAGAAGGCGGCGGAAGGTGGAGATTGATGCTTCTGTTTTTTGTTGCCGCTGCTGCCCTCGCGCTGGGAGCCGAGCCGGAGGGAAGGCGGTGGAGAGATGATTGCAGAGTTGGTGAGCAGCGCTCTGGGGCTCGCCTTGTATCTCAACACCCTGAGTGCGGATTTCTGCTATGATGACAG|GTCCTGCCAAGGAATCTTGCCCTTCCATTTGTCGAAGTCTCCAGGAACTTGGGGCTCCCTCCTATCC(TGGTCCACTCAGACTTGGTGCTGACGAACTGGACCAAAAAAGATCCAGACGG___ATTCCTGGAAATTGG___GAACCTGGAGACCATCATCTCATTTCCTGGGGGAGAGAGCCTGCATGGTTTTATACTGGTGACTGCTTTGGTAGAGAAAGAAGCAGTGCCTGGGATAAAG___GCTCTTGTTCAGGCCACGAATGCTATCTTGCAGCCCAACCAGGAGGCCCTGCTCCAAGCCCTGCAGCGACTGAGACTGTCTATTCAGGACATCACCAAAACCTTAGGACAGATGCATG___ATTATGTAGATCCAGACATATTTTATGCAGGCATCCGGATCTTTCTCTCTGG___ATGGAAAGACAACCCAGCAATGCCTGCAGGGCTGATGTATGAAGGAGTTTCCCAAGAGCCCCTGAAATACTCCGGCGGGAGTGCAGCTCAGAGCACAGTGCTTCATGCCTTTGATGAGTTCTTAGGCATTCGTCATAGCAAGGAAAGTG___GTGACTTTCTGTACAGAATGAGGGATTACATGCCTCCTTCCCATAAGGCCTTCATAGAAGACATCCACTCAGCACCTTCCCTGAGGGACTACATCCTGTCATCTGGACAGGACCACTTGCTGACAGCTTATAACCAGTGTGTGCAGGCCCTGGCAGAGCTGCGGAGCTATCACATCACCATGGTCACCAAATACCTCATCACAGCTGCAGCCAAGGCAAAGCATGGGAAGCCAAACCATCTCCCAGGGCCTCCTCAGGCTTTAAAAGACAGGGGCACAGGTGGAACCGCAGTTATGAGCTTTCTTAAGAGTGTCAGGGATAAGACCTTGGAGTCAATCCTTCACCCACGTGGTTAGGAGGCTGCCCTCTCCCCAGCAATGCAGAGCCCCCATGGAGGGCAGGTGGGCCTGGAGAATGAGGGTCAGGGTTCTGCCTGGGATCATCCAGGAAGGATCTCAGCCCTATTCATGTTTCTGCTCTACAGAGCACTATATTCTCCTTGTTGAGAGCTGTTGGCTTCACAAAGGAGAGTTGATGTGGCCAAGCCTTTCCCTCCCTACCTGATCACTGCTTAACGGCATGTATAATGGATACTTCCTCATGCAGAACCCCCAGAGGAGTGACTGTATGCCATTCTCTTTGCCAAGTAATAGAAAACCAATCTAAATGTCAAAAATCAGATAAAATTGCCTGGGGATACATTACTTGTTGATTTTCTTAAAAAACAAATTCACTTAACAATTCATTAAGTTCATACTGAGCACTGCCTCCAAGATTAAAACCAGGATTTCTGTGGTCCCAGACCAGCCCTCTTCTCCCTGAATGTGTTGAGTTGGTGGCAGGAGGTTGGAAATGCTCCAGTGGAGATGGGAAGATAGAGGATGCTGACAATAAGGACTTGGAAGTCACTAGTGTGAAAATGAGCAGTTAATGATATGGGAACGGATGAGACTTTCCACGTGGTACCTAGATTTGCAAATTCTATTGTAATGCCTTTATTTTTAGAAGAATTATTCTCTCTTCTTACTCTGAAAATCTGTATTTGTAAAATGAATGAATGGATCCTATATAAGTAAATAAGAAAACTGGGAATAAGTAGTAAATCAATGTGTTTAGTGTGCAAATAAATGTAAATGCTTTTATTG)$ MIAELVSSALGLALYLNTLSADFCYDDr|scqgilpfhlskspgtwgsllswstqtwc* 20BR002 ENSG00000106603.19 ENSG00000164543.7 -/- +/- chr7:43639449 chr7:43609641 3'UTR intron deletion/read-through/5'-5' 9 2 0 153 26 medium stop-codon . . . . ENSG00000106603.19 ENSG00000164543.7 ENST00000223336.10 . upstream downstream duplicates(2),low_entropy(1) ^(AAGTCTCTACTGCTCCCCGCTGGCGCGCAGGACCGCGGGCATTTACCCGTGCTTTCCCAAGCCTGGAAGAACTCGTCATGCTCTTTGTAGCGTGGTGCTTCTGTTGCTCACAG___GACAACTTGCCTTTGATGATTTTCAAGAGAGTTGTGCTATGATGTGGCAAAAG___TATGCAGGAAGCAGGCGGTCAATGCCTCTGGGAGCAAGGATCCTTTTCCACGGTGTGTTCTATGCCGGGGGCTTTGCCATTGTGTATTACCTCATTCAAA___AGTTTCATTCCAGGGCTTTATATTACAAGTTGGCAGTGGAGCAGCTGCAGAGCCATCCCGAGGCACAGGAAGCTCTGGGCCCTCCTCTCAACATCCATTATCTCAAGCTCATCGACAGGGAAAACTTCGTGGACATTGTTGATGCCAAG___TTGAAGATTCCTGTCTCTGGATCCAAATCAGAGGGCCTTCTCTACGTCCACTCATCCAGAGGTGGCCCCTTTCAGAG___GTGGCACCTTGACGAGGTCTTTTTAGAGCTCAAGGATGGTCA)GCAGATTCCTGTGTTCAAGCTCAGTGGGGAAAACGGTGATGAAGTGAAAAAGGAGTAGAGACGACCCAGAAGACCCAGCTTGCTTCTAGTCCATCCTTCCCTCATCTCTACCATATGGCCACTGGGGTGGTGGCCCATCTCAGTGACAGACACTCCTGCAACCCAGTTTTCCAGCCACCAGTGGGATGATG|TTGCACCTGGACTTGATATGAAAGTAACCATCAGAAAATCAACAGAGATCTTAAACTTGCCTACCACAGACACCTGCAGGAATATACTAAGAATCATCATAGTGGACCTTTATTGTCTCCTGAGCACCCATTCTTTGTTCTTTCAGAAACACAACTGGTTTTGAGAATCCATCCCTTCTTCACTCAGTCCACGTAAAGGTTAGGATGGTAGAAAGTGTTATACCTCTTCCTCCAGAGTTGGAGCCTAT . 20BR002 ENSG00000104960.15 ENSG00000117643.14 +/+ +/+ chr19:49851499 chr1:25763874 CDS/splice-site CDS/splice-site translocation 0 6 0 53 23 medium in-frame . |Glycosyl_hydrolase_family_47(100%) . . ENSG00000104960.15 ENSG00000117643.14 ENST00000391842.5 ENST00000374332.8 downstream upstream duplicates(1) ^(AGTGGTTCGGCCGCGGCGACCCCACTCCGGCGGCGCGTCCCCCGAGCTTGGTACGGCTCAGCCCGTCTCCCCCGAAGCCGCGCGCCCGCGCCCGCGCCCCTCAGTCGGTGGAGCCCGCAGCCCCCCTTGTGGCCCGCGGCAGCTCCCCGCCCGCTCGGCCCGCGCCCGCCATGGTCCGTCCGCGCCGTGCCCCGTACCGCTCCGGCGCCGGGGGCCCCCTCGGGGGTCGCGGCCGCCCTCCGCGGCCCCTCGTGGTGCGCGCCGTCC)GCTCGCGCTCCTGGCCTGCCAGCCCCCGAGGCCCGCAGCCTCCGCGGATCCGGGCCCGCTCGGCCCCTCCCATG|GTCAGGAACATCCGCAAGGTCCTCAGGAAGATCGAAAAGCCCTTTGGCCTCTACCCCAACTTCCTCAGCCCAGTGAGTGGGAACTGGGTGCAAC___ACCATGTCTCAGTTGGAGGACTCGGGGACAGTTTTTATGAATATTTGATCAAATCCTGGTTGATGTCGGGCAAGACAGATATGGAGGCTAAAAATATGTACTAC(GAAGCCTTGGAG___GCGATAGAGACCTACTTGCTGAATGTCTCTCCCGGGGGGCTGACCTACATTGCCGAGTGGCGAGGGGGGATTCTGGACCACAAGATGGGGCACCTGGCCTGTTTCTCCGGGGGCATGATCGCCCTTGGCGCCGAGGATGCCAAGGAAGAAAAGAGGGCCCACTACCGAGAGCTCGCAGCCCAGATCACCAAGACGTGTCACGAGTCATACGCCCGCTCAG___ACACCAAACTTGGGCCTGAGGCCTTCTGGTTTAACTCCGGCAGAGAGGCCGTGGCCACCCAGCTGAGCGAGAGCTACTACATCCTCCGGCCAGAGGTGGTGGAGAGCTACATGTACCTGTGGCGACAGACCCACAACCCCATCTACAGGGAGTGGGGCTGGGAGGTGGTGCTG___GCCTTGGAGAAATACTGTCGGACAGAAGCCGGTTTCTCTGGGATCCAAGACGTGTACAGTAGCACCCCCAACCACGACAACAAGCAGCAGAGCTTCTTTCTAGCGGAGACACTAAA___GTATCTCTATCTTCTGTTCTCTGAAGATGACTTGCTCTCCCTGGAAGACTGGGTGTTCAACACCGAGGCCCACCCACTCCCGGTGAACCACTCAGACAGCTCCGGCAGAGCCTGGGGCAGACACTGACCCCATCTCCTGCCGCCGCCCTGGGGCCGCCGCAGGGATGCCTTGCCTTTTCAGGATTTGAGACTGTTCTCAAAGGGATTGGGAACGAAGGCCCCATCTCGGGCAGACCCCCAGCAGATGTGTCGGACAAGCAACTTCTTTTCCTCTGTGAGGAGACAAGACTTGGAGACTCAGCGATGTCAGGCCAGGGCCATGGCCACACTGGCCCACACATTCCTTTCTACAGAGAATTTCTATGAAGCCCACTCACTTGCCATTCCAGGGCCAAAGGACCGGAGGTTTGCATATCCGCCCCTTGTATTTGATTTGCTTCCTTTTGGTTTCTTGGTTTTTGTTTTTGCTTGATTTTGTCTTTTCTCTACAGTTTAGTTTTGTCACAATTACACATATAGTTTTCAAAATCATGCACTTTCTAAAATGGTGTCATCCTGAAAAACAAAACCCAGTGTTTGCACACACACAAAATCTTGACCCCGTTATCTATATTTTAAATGCTTTTTGCCCAACACTGACCCTATGTTCAACTTTGTGTCATTTACCTTATAATTTGAGGAGGGGTTTCCCTTTGGGCCTCAGTGTTACAAATTACTAGTGCTATTTTCATTATTATTGTAATGGAAAAATCTGTGGACTAGAATAAAAGAGTTTATTGAATAAGAAATATGATTGGGCTCATTGCACATCAGTGACTCCTAGAAAAACCATTGCAATGTTACCATCAGAAATAATAATCAGCCAGCAGTTGATTTAAGGTATAATTTAGTAAACGATTCCAACTTCTATTACCTCCCCTGAAATCGGTCCTGATATATTCGAGAAGCATGAGGCCAGCCCTTCAGATGCAGTTGTTTATTTATACTCAGGTTTAGATTGGGAAGAGGCCCAGGGAGGAGCAGCAACTTGCCTGAGGTCACACAGCCCAAAAAAGGCAAAGGAGAGTCTCGCCCCTGCCGTCTCCTGGCCACCCCAGTTGAGTGTCCGTCTGTTCCATCATTCAGCAGATGCTTGGTGAGTGCCTGCAACGGACCAGACACTGGGCTAGAGGCCAGGGACACCGCTGAGAGTGAGACAGTCATAAGCCCTGCAGTCAAGGGGTCAAGAGGGGAGAAAGCGATGGTAAGGGAAACTGACAAGTAAGTGAAGTGACTGCAGGTCATAGGAAATGCTACAAAGGAGATAGATAGACAGCTGAGGACCTACCCTACGGGGTCAGGGAGGGCCTCTCTGGGCAGGTGACCTTCAAGCCAAGACCCAGAAGATAAAAAGGAGCAGCCGAAAGACTATCTGGCAGAAGAATGAACTTCCCATAACCCAGCCCCCTTTCCCACCCTCCCTGATGCCCTCCCTGGGAGGGGGCCTGAAACACTGGGGCTGTTGTGCAGAGCAAGGAGCTCAGGTCCTAACACTGAAGTGACAGCTCTTCCTCCCCTGACCCTTTTTTTTTTTTGAGACCCAGAGTCTCGTTCAGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCTTCCCCAGTAGCAGGGTGCGTCACCACACCCGGCTAATTTTTTGTATTTTTAGTAAAGACGAGGTTTTGCCATGTTGCCTAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCGGGGATTACAGGCATGAGCCACCACACCCAGTCCTTTCCTGGCACATTTGCAGCTTGTCAACACAGCGGAAATCACGGGAGAATGTTGAGCCCTTCCCTGGGCTCAGCTGCTTGCTCTGTTCATAAGCTTTAATAGCCCCCGGGGCTCTGGGCCAGGTGACCCGGCTTTAAATCCCTGCTGTGTGAACTTAGGCAGGTACCTCCCCTCTCTGGGCTCTTCTTTTCCATCAAGCAGACAGAAAACCTCAACCCCACAAGGTTGCTGTGAGAAGAAGTGGGAAGCTGCTGGTTCCCTGGGCACAGGAAGTGCTTGTTCCTTGTTCTGGAGACTCAAGACATTCCCAGAATCTTCTTAAGCAGAGCTGCTGGGGAGTAGCCCCTGTAGCAAGTACCATGCTCTTGACAGGCAGCATGAGAGCGTGACTCCCATGACCCACCTGTGCTCAAAAAAAAAAAAAAAAAAAAGCAAACCAGGAAAACTGACTACACAAACATTGTAGAAAGATTAGAAAATAGAAGCAGAAAGAAGACTCATTGGCCATCCCACTCTCTGGGGTGAATACTGTTATATTTTCTTCTAGGCCTTTTTCTATGAATATATAGAATATAGATTTTGCCACCGTGGTATCCTACTATGCACACTGTTTTCTTATAATCTGCTTTTGCACTTAACTGTACATTGTGAACCTCTTTCCATGTCAACAAATACATGTTTATCTCATCGCTGTA)$ MVRPRRAPYRSGAGGPLGGRGRPPRPLVVRAVRSRSWPASPRGPQPPRIRARSAPPM|VRNIRKVLRKIEKPFGLYPNFLSPVSGNWVQHHVSVGGLGDSFYEYLIKSWLMSGKTDMEAKNMYYEALEAIETYLLNVSPGGLTYIAEWRGGILDHKMGHLACFSGGMIALGAEDAKEEKRAHYRELAAQITKTCHESYARSDTKLGPEAFWFNSGREAVATQLSESYYILRPEVVESYMYLWRQTHNPIYREWGWEVVLALEKYCRTEAGFSGIQDVYSSTPNHDNKQQSFFLAETLKYLYLLFSEDDLLSLEDWVFNTEAHPLPVNHSDSSGRAWGRH* 20BR002 ENSG00000147548.17 ENSG00000104755.15 -/- -/+ chr8:38347127 chr8:39828925 intron intron inversion/5'-5' 0 4 1 19 5 medium . . . . . ENSG00000147548.17 ENSG00000104755.15 . . upstream upstream . AGAGAAGATAGCTAATTATATTGGGTTTTCATTATTTTAGACCAACTTTTTCCAGTA|AATAGACAAATAGACCAAAAAGTTTAATCAAGAGCTTGGAAACAGATAAAACCATATATAAATGTATAATATATAACCATCATCACACAGAAGACATGTACAGAAAGATAGAAGATTCAAT . 20BR002 ENSG00000131069.20 ENSG00000131069.20 +/+ +/- chr20:34913825 chr20:34910144 CDS/splice-site intron inversion/3'-3' 1 2 0 43 2 medium out-of-frame . AMP-binding_enzyme(100%),Acetyl-coenzyme_A_synthetase_N-terminus(100%)| . . ENSG00000131069.20 ENSG00000131069.20 ENST00000253382.5 . downstream downstream . ^(AAAGGCGGCCGCGGTTCTAGGAACTTGACGTGATGGGGCTTCCTGAGGAGCGGGTCCGGAGCGGCAGCGGGAGCCGGGGCCAGGAGGAAGCTGGAGCCGGAGGCCGGGCGCGGAGTTGGTCTCCGCCGCCCGAGGTCAGCCGCTCCGCGCACGTCCCCTCGCTGCAGCGCTACCGCGAGCTGCACCGGCGCTCCGTGGAGGAGCCGCGGG___AATTCTGGGGAGACATTGCCAAGGAATTTTACTGGAAGACTCCATGCCCTGGCCCATTCCTTCGGTACAACTTTGATGTGACTAAAGGGAAAATCTTCATTGAGTGGATGAAAGGAGCAACTACCAACATCTGCTACAATGTACTGGATCGAAATGTCCATGAGAAAAAGCTTGGAGATAAAGTTGCTTTTTACTG___GGAGGGCAATGAGCCAGGGGAGACCACTCAGATCACATACC)ATCAGCTTCTGGTCCAAGTGTGTCAGTTCAGCAATGTTCTCCGAAAACAGG___TTTGCAGGCTTCTCTTCAGAGTCTCTATGTGAACGGATCTTGGATTCCAGCTGCAGTCTTCTCATCACTACAG|GAGGCTGAAGCAGGAGAATCGCTTGAATCCGGGAAATGGAGGTTGCAGCAAGCTGAGACCGTGCCATCGCACTCCAGCCTAGGCGACAAGAGTGAAACTCTGTTTAAAAAAAAAA...TCACCTGGGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCgTGGTGGTGCACGCCTGTgGTCCCAGCTACTTGGGAGGCTgAGGCGGGAGGATCATTTGAACCCAGA MGLPEERVRSGSGSRGQEEAGAGGRARSWSPPPEVSRSAHVPSLQRYRELHRRSVEEPREFWGDIAKEFYWKTPCPGPFLRYNFDVTKGKIFIEWMKGATTNICYNVLDRNVHEKKLGDKVAFYWEGNEPGETTQITYHQLLVQVCQFSNVLRKQVCRLLFRVSM*TDLGFQLQSSHHYr|rlkqenrlnpgnggcsklrpchrtpa* 20BR002 ENSG00000030066.13 ENSG00000176927.15 -/- +/+ chr11:47783073 chr17:30078215 CDS/splice-site CDS/splice-site translocation 2 0 0 79 6 medium out-of-frame . . . . ENSG00000030066.13 ENSG00000176927.15 ENST00000378460.6 ENST00000394835.7 upstream upstream . ^(GTGGAAGCCTCGCAACGAAGGGCCGGAGCCGCCTTTCTGCTCCCGGAATGCTTCACCTGTCCGCAGCTCCGCCCGCCCCACCCCCGGAAGTGACGGCGACCGCGCGGCCCTGCCTTTGTTCCGTTGGGCGTCGCGGCGACGGCGGGAAGATGGCGGCGGCGGGAGCCCTGGAACGGAGCTTCGTGGAGCTAAGCGGAGCTGAGCGCGAAAGGCCGAGGCACTTTCGGGAATTCACAGTCTGCAGCATTG___GGACTGCAAATGCCGTGGCTGGCGCCGTAAAATACAGTGAAAGCGCGGGAGGCTTTTACTACGTGGAGAGTGGCAAGTTGTTCTCCGTAACCAGAAACAGGTTCATTCATTG___GAAGACCTCTGGAGATACATTGGAGCTGATGGAGGAGTCACTGGACATAAATCTGTTGAATAATGCCATTCGCCTAAAATTCCAAAATTGCAGTGTTTTACCTGGAGGGGTTTATGTCTCTGAGACTCAGAATCGTGTGATAATCTTGATGTTAACCAATCAAACAGTGCACAGGTTACTTTTACCACACCCCTCCCGGATGTATAGGAGT___GAGTTGGTAGTTGACAGTCAGATGCAGTCAATATTCACTGACATTGGAAAAGTTGATTTCACAGATCCTTGCAACTATCAGTTAATTCCAGCAGTACCTGGAATATCTCCTAATTCCACCGCCTCTACAGCCTGGCTCAGCAGTGATGGGGAGGCCCTGTTTGCCTTACCATGTGCTTCTGGGGGAATCTTTGTTCTTAAGCTACCTCCTTATGACATACCTG___GTATGGTGTCAGTCGTGGAACTGAAACAGAGTTCAGTAATGCAACGATTGCTTACAGGCTGGATGCCAACAGCTATCAG___GGGTGACCAGTCGCCTTCAGATCGTCCCCTCAGTCTTGCTGTTCATTGTGTGGAGCATGATGCCTTCATCTTTGCTTTGTGTCAGGATCATAAACTACGAATGTGGTCTTACAAG___GAGCAAATGTGCCTAATGGTAGCTGACATGCTGGAGTATGTCCCTGTGAAGAAAGACCTTCGGCTTACTGCTGGAACTGGACACAAATTACGGCTTGCTTATTCCCCCACCATGGGACTCTACCTGGGGATATACATGCATGCACCAAAACGAGGACAG___TTCTGCATTTTCCAGTTGGTGAGCACTGAGAGTAATCGCTATAGTCTCGATCATATTTCTTCACTGTTCACTTCTCAG___GAGACACTGATTGACTTTGCCTTAACTTCCACGGATATCTGGGCCCTGTGGCATGATGCTGAGAACCAAACAGTAGTGAAATACATCAACTTTGAACA___TAATGTTGCAGGTCAGTGGAATCCAGTTTTTATGCAGCCTCTGCCAGAGGAAGAGATTGTCATCAGAGATGATCAAGACCCCAGA___GAGATGTATCTGCAAAGTCTTTTTACACCAGGACAATTCACAAATGAAGCTTTATGTAAGGCTTTACAG___ATTTTCTGCCGAGGAACTGAGAGGAATTTGGATCTTTCCTGGAGTGAACTGAAGAAAGAAGTTACTTTAGCTGTTGAAAATGAG___CTTCAAGGAAGTGTAACAGAGTATGAATTCTCCCAGGAGGAGTTTCGAAATTTACAACAAGAATTCTGGTGCAAGTTCTATGCCTGTTGTCTTCAGTATCAAGAAGCCCTCTCTCACCCTCTTGCCCTACATTTGAATCCACACACAAACATGGTGTGCCTGCTGAAAAAA___GGGTACCTGTCTTTCCTTATTCCCTCATCCTTAGTGGATCATTTGTATCTCCTGCCTTATGAGAACCTTTTGACAGAAGATGAGACAACCATATCTGATG___ATGTGGACATCGCTCGGGATGTCATATGTCTTATAAAATGCCTCCGGCTGATTGAAGAGTCAGTAACTGTGGATATGTCAGTTATAATGGAAATGAGTTGTTATAACCTACAGTCTCCGGAAAAGGCTGCAGAGCAGATTCTGGAAGATATGATCACTATTGATGT___AGAAAATGTGATGGAGGATATTTGTAGTAAACTGCAAGAGATTAGGAACCCAATCCATGCAATTGGACTACTTATACGGGAAATGGATTATGAAACAGAAGTGGAAATGGAAAAGGGATTCAATCCAG___CTCAGCCTTTGAATATTCGAATGAATCTTACCCAGCTCTATGGTAGTAACACAGCAGGGTATATTGTGTGCAGAGGGGTGCATAAAATCGCCAGTACTCGTTTCCTGATCTGCAGAGATCTTTTGATCTTACAGCAGCTGTTAATGAGGCTTGGAGATGCT___GTGATTTGGGGAACTGGTCAGCTCTTTCAAGCTCAGCAAGACCTACTACATCGAACAGCTCCCCTACTCTTATCTTATTACCTCATTAAATGGGGAAGTGAGTGCTTGGCAACTGATGTTCCACTTGACACACT___GGAGTCTAATCTCCAACACTTATCAGTACTGGAATTAACAGACTCTGGTGCTTTAATGGCAAATAGGTTTG___TATCTAGTCCTCAGACTATTGTGGAGTTATTCTTCCAAGAAGTTGCAAGAAAACACATTATATCTCACCTCTTCTCTCAGCCAAAGGCACCTCTGAGCCAAACTGGATTGAATTGGCCTGAAATGATTACTGCAATTACCAGTTATTTATTGCAGCTTTT___ATGGCCTAGCAATCCTGGTTGTCTCTTTCTAGAATGTTTGATGGGAAATTGCCAATATGTACAATTGCAG___GATTATATTCAACTGCTACATCCCTGGTGTCAAGTCAATGTTGGTTCCTGTCGATTTATGCTGGGAAGGTGTTACCTAGTTACAGGAGAAGGACAGAAG___GCTCTGGAATGTTTTTGTCAGGCAGCATCTGAAGTAGGCAAAGAGGAATTCTTGGATCGCTTGATTCGCTCAGAGGATGGGGAGATCGTGTCTACCCCCAGGCTGCAGTATTATGACAAG___GTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAG___GCTACTCTAAGGACATGTATTTTCAAACATCATTTGGATTTGGGTCACAATAGCCAAGCATATGAAGCCTTAACCCAAATTCCTGATTCCAGCAG___GCAATTAGATTGTTTACGGCAGTTGGTGGTAGTTCTTTGTGAACGCTCACAGCTACAGGATCTTGTAGAGTTTCCCTATGTGAATCTGCATAATGAG___GTTGTGGGAATAATTGAGTCACGTGCTAGAGCTGTGGACCTTATGACTCACAATTACTATGAACTTCTGTATGCCTTTCACATCTATCGCCACAATTACCGCAAGG___CTGGCACAGTGATGTTTGAGTATGGAATGCGGCTTGGCAGAGAAGTTCGAACTCTCCGGGGACTTGAGAAACAAGGCAACTGTTATCTGGCTGCTCTCAATTGTTTACGACTTATTCGTCCAGAATATGCGTGGATTGTGCAGCCAGTGTCTGGTGCAGTG___TATGATCGCCCTGGAGCATCCCCTAAGAGGAATCATGATGGAGAATGCACAGCTGCCCCCA___CAAATCGACAAATTGAAATCCTGGAACTGGAAGATCTGGAGAAAGAGTGTTCCTTGGCTCGCATCCGCCTCACTTTGGCTCAGCATGATCCATCAGCGGTTGCAGTTGCTG___GAAGTTCATCAGCAGAGGAAATGGTCACTCTCTTGGTTCAGGCGGGCCTCTTTGACACTGCCATATCACTCTGTCAGACTTTTAAGCTTCCCTTAACGCCAGTCTTTGAAGGGCTTGCCTTCAA___ATGCATCAAATTGCAATTTGGAGGAGAGGCAGCACAAGCAGAAGCCTGGGCCTGGCTAGCAGCCAATCAGCTCTCATCTGTCATCACTACTAAGGAGTCTAG___TGCTACAGATGAAGCAT)GGCGACTATTATCCACTTACCTGGAGAGGTACAAAGTCCAGAATAACTTGTATCACCACTGTGTAATCAACAAGCTCTTGTCTCATGGAGTGCCTCTGCCTAATTGGCTTATAAACAGTTACAAG___AAGGTTGATGCTGCTGAATTGCTTCGTTTATACTTAAACTATGACCTTTTAGAAGAAGCTGTGGATTTGGTGTCAGAATATGTGGATGCTGTATTGGGAAAAGGACATCAATACTTCGGAATTGAG|CTAAACTACACATCCAATTTCCAAAGCCACACCCTG(GTCACGAAGTGAGATTGTCTTCAAAACAATTTCAGAATTACATAGAATTGGTTGTGTCTGAACTCAGGGGCAATGAAGACCAAGTTCTGGAAAGTGTTGTGGAATTTCTGATGAATGCTTTAGAGAGGAGCCACATTGAGAGTCTGAGGAATTCTGCCAGGCGGAAATGGCTGCACCAAATCCAATGTGCTGCAGAGACAAGTGGGGTGTCCCTAGAGCCGGTGTATAGTGAGACCTTTAAGGCCCTCATGCAG___GATGCTGAAGCCCATGGAAATAAAAAGATCAGTGCTCACATTTCCCTCTTAGAAGAAAACCTACTACTGCCTGAGAAAGGGAATGTTCTATTGAGGAATGTGGCTTGTACCTTAGATGATGCTCAATTTGTACTGAACAGAGTGCTCTACAGGGACATGAAAGGAATCAG___CTTTACAGTAGTGGATGAAGGGAAGCCAATCCATGTTCCCCAAGTTCAGTACCATGGGAACATCTTCTTCTGGAACCAGTCCCGTAATAAGCATGATTATAATGGTTCATTCCTGGCTCTGCCTCTTCAAGATGCATATATGAGGATCTTTGGGGTCTTGGCTGTTGATACCCTTAGAGATCCCCACGAAATAAACATCTTTCTACCTCATGAGATCAGATTCTATCAG___GGTGTTGCTAATGTCTTTAGCACTGCCTATCACTACGTCCACAGCCGGGAGCACATTCTGCATATTGTGATCACTGGCATAGGCTGGCTTTATGACGTCACATCCAGCATCACCTCCATCACTACGTACTTTGTAGAGCCTAGCCCAGCCCAG___GATTCAGACTATGTTTTACGCAACATGATGGTTACAGGGCAGCTGGGTCTAACAGAAATCCACAAAAATCCTCCTACCATCCACAGGAAGTCATGCATCTTCAG___AGATTTCCTCTTTAAATGTACTGACAGTTCAGAAGTTGTTCTGGCTTCTGCCTGTGGAGAAACGCATATAGTAGTTCCACTTCGTGAGAGAACAGGAGAGGCTCTGGGAGTCCTCGATTTTAACATCGGCCAAAATAGGATGTTGTTGTGTCAAGAATATAAAGATCTACAGAAAATGATGAAAGTGGTCCAAGTGGCCTGCTATGAAATACTTGGCGAGTTCTCTGGAGAGATAAAGAAAAAATATATCTTAG___AGATTGAAAATGTCAGGGAAGTCCAGCGGGCAGGAATTCTCTTCTTCCGAATCATGCTGCTCGAGCTACAGGAAAGCATCCAACTACTCAATTCCATGGAATTTGTGTCACTGTTGCTCTATGACCATACTCTTGTAACAGAGCCAAATTCTCCTCAAGACAGCAAATCTATGGAGTTGGAAGCCAACGTGAAACTAGTGCGTGACATCCTGAAGGCGGTTATCTTGTTCTTTCATCCAGAGTTGGAATTTTCAAGTGACTTTGGAAGTTGGGATAAGTGTAAATTT___TATGTTAACAAATATTTAGTCAACAATATTTGTGCCTTTGATCCAACTGCCAAGCATGTGGAAGTTAATGTACAGCTTATTGATGAATATATCAGAG___ATCATTCCCGAACTGAAGTATGGAAATTTGGTAATGTTGTCATTGAACATCTATACCACTGGATACACATCTGTTCAGCTCTCATGAAGATAACCAAACAACTAAATAGTGGTATTACACCTCCGTTGCCCTCCAAGACTGACAATTATATGTATGCAAAAATGCCAGGGGAAGGTTTGCAAGAGAAGTGATAATGGATGATAATGGAATTGATACTGTATTTAGGATCCTTTGTTTGTTATCAGTTTTGTTTGTTAACTATAAAATATTTTCCATTGGAAAGGGGTACCTATAAATGTCTTCTGCTGCTAATATTTATCTCAGCACTTTCTAAACCCAAAAGTGCTACCTAAGAAGAAATTTAGCCAAAAAATACCCAGCTAAGGTAGCCATAGCCAAGTGTATTTAAGTATGTTATAGAATATATTTGAAAGCTTCCTTTCAGTTTGAGCTTTGTATCTGCTGTGGAACTGTTATGGTTGATTGGGTAGTTATTTTTCATTCTTATAAGGTTCAAAGTAACAGCTGAGGATTTAGAAAACAAGAATACCAAATAGAATACGAAATAATAAAGATAAACCAAAAGAATACCAAATAATAAAGATTTTTAAGAAATGGA)$ MLHLSAAPPAPPPEVTATARPCLCSVGRRGDGGKMAAAGALERSFVELSGAERERPRHFREFTVCSIGTANAVAGAVKYSESAGGFYYVESGKLFSVTRNRFIHWKTSGDTLELMEESLDINLLNNAIRLKFQNCSVLPGGVYVSETQNRVIILMLTNQTVHRLLLPHPSRMYRSELVVDSQMQSIFTDIGKVDFTDPCNYQLIPAVPGISPNSTASTAWLSSDGEALFALPCASGGIFVLKLPPYDIPGMVSVVELKQSSVMQRLLTGWMPTAIRGDQSPSDRPLSLAVHCVEHDAFIFALCQDHKLRMWSYKEQMCLMVADMLEYVPVKKDLRLTAGTGHKLRLAYSPTMGLYLGIYMHAPKRGQFCIFQLVSTESNRYSLDHISSLFTSQETLIDFALTSTDIWALWHDAENQTVVKYINFEHNVAGQWNPVFMQPLPEEEIVIRDDQDPREMYLQSLFTPGQFTNEALCKALQIFCRGTERNLDLSWSELKKEVTLAVENELQGSVTEYEFSQEEFRNLQQEFWCKFYACCLQYQEALSHPLALHLNPHTNMVCLLKKGYLSFLIPSSLVDHLYLLPYENLLTEDETTISDDVDIARDVICLIKCLRLIEESVTVDMSVIMEMSCYNLQSPEKAAEQILEDMITIDVENVMEDICSKLQEIRNPIHAIGLLIREMDYETEVEMEKGFNPAQPLNIRMNLTQLYGSNTAGYIVCRGVHKIASTRFLICRDLLILQQLLMRLGDAVIWGTGQLFQAQQDLLHRTAPLLLSYYLIKWGSECLATDVPLDTLESNLQHLSVLELTDSGALMANRFVSSPQTIVELFFQEVARKHIISHLFSQPKAPLSQTGLNWPEMITAITSYLLQLLWPSNPGCLFLECLMGNCQYVQLQDYIQLLHPWCQVNVGSCRFMLGRCYLVTGEGQKALECFCQAASEVGKEEFLDRLIRSEDGEIVSTPRLQYYDKVLRLLDVIGLPELVIQLATSAITEAGDDWKSQATLRTCIFKHHLDLGHNSQAYEALTQIPDSSRQLDCLRQLVVVLCERSQLQDLVEFPYVNLHNEVVGIIESRARAVDLMTHNYYELLYAFHIYRHNYRKAGTVMFEYGMRLGREVRTLRGLEKQGNCYLAALNCLRLIRPEYAWIVQPVSGAVYDRPGASPKRNHDGECTAAPTNRQIEILELEDLEKECSLARIRLTLAQHDPSAVAVAGSSSAEEMVTLLVQAGLFDTAISLCQTFKLPLTPVFEGLAFKCIKLQFGGEAAQAEAWAWLAANQLSSVITTKESSATDEAWRLLSTYLERYKVQNNLYHHCVINKLLSHGVPLPNWLINSYKKVDAAELLRLYLNYDLLEEAVDLVSEYVDAVLGKGHQYFGIE|lnytsnfqshtlvtk* 20BR002 ENSG00000116991.10(68311),ENSG00000238382.1(70335) ENSG00000237520.1 ./- +/+ chr1:232629869 chr1:234959697 intergenic exon/splice-site inversion 0 2 0 12 23 medium . . . . . . ENSG00000237520.1 . ENST00000423963.1 upstream upstream . CACAGGCTGTAGCAGGTTCCGGCGGACGGCGTTGCGAAG|ATCTCTGCATTTAATGAGGAAGTGCTGTCAGCAGAAAGGAGAGGAAGCTTCACCCCGACCATCCGCAGGACCCACATCCCTCTCAGCGGGAAGGCAGAATCATTCATCTATTGCTCTCCTTGAAGGGCAGCTCCAGACACTCACGTGGAC(ACAAGTAGGAAAAGCACAGAGTGTGTCATCACACTGTGTACCTCATACAGGTGACGTCCTGGAGAAACCTCTGGAAAAACAGAAATTTTATGACCCACAATTAAAATGATTTAAGTAATAAATAACCCTGATAGCTTGCCCCA)$ . 20BR005 ENSG00000164823.11 ENSG00000104320.14 +/+ -/+ chr8:89909721 chr8:89952603 CDS/splice-site intron deletion/read-through/5'-5' 61 69 3 477 174 high out-of-frame . . . . ENSG00000164823.11 ENSG00000104320.14 ENST00000451899.7 . downstream upstream duplicates(19),inconsistently_clipped(1),mismappers(1) ^(CTCCGGCGCCTGGCTCCCTGCAGGCGAGGAGCGGAAGCCGCTATCTGGAGGCGGACTCCGGCGCCACAGAGCCGGGGCAGCCGCGGCAACGGCGAGGCGCGAGGCAGGGGCGCCCGGCAGACCCCGCGACCCCGAGCCAGCGGGCGCCCCGAGCGGGCAGCCTCGCCGGGGGAGGCGGAGGCGGCCACGGCGGCCGCGCTCGGGCGCCCCTCGCGCAGCGCTC)CATGCCCGTGTGGTGCTGCCGCTGCTCCCTGGCCGGTCATTTCAG___AAACTATAGTGACACTGAAACTGAAGGAGAGATTTTTAATTCCTTAGTGCAATACTTTGGTGACAACTTGGGGCGAAAAGTTAAAGCGATGCCATTAGTTGAAGAAACTTCTTTACTGGAAGATTCGTCAGTGACTTTTCCTGTGGTAATAATAG|GTGTTACTGGAGAGGATGACCACAGCCATGAATGAGTGGAGCTAATGAATCCACATTGGAGATCAGAATATTAAAGTTTTACTTCATCAGGTCTGTGCTCTCATCTAAAGAGCTAACAAATCTACAGATAAGTCAACTTACTGATGTATACAAAAAAGAAAATAATCTCAGG...___CAAGCCTGTAAGAGAAAAAAAGAAAATCCCCCCATGGTCAGAAGGACTCCTGGGACAGGAAGAATGAATCTTTGGTAGGAAGCTGGCTGTGGACTTTTCAGGCATATAAACACTTTAGTCCTCACCTACTTTTTGCCACATGAAGAGCAATTTAGTCAGAAGACTGCCAAGCCATATATTTCTACAATACTTAC MPVWCCRCSLAGHFRNYSDTETEGEIFNSLVQYFGDNLGRKVKAMPLVEETSLLEDSSVTFPVVII|gvtgeddhshe* 20BR005 ENSG00000139132.14 ENSG00000254189.1(52750),ENSG00000253423.1(47356) +/+ ./- chr12:32576449 chr8:83153596 CDS/splice-site intergenic translocation 68 50 2 146 175 high out-of-frame . . . . ENSG00000139132.14 . ENST00000534526.6 . downstream downstream duplicates(17),mismappers(1) ^(GGTAGCGGCTTTGAGTGAGTGCGGGAGCTGCAGATACCGAGACGCTGCGACTGCCGCAGGAGTCGCCGCAGCCAAACTCGCCGCGACGCCGGGAGGGAGCGTACCGGGAAGGAGAGGGAGAGGAGGCACTCGCTGAGGAGACGCCGCAGTAGAGGGCGCCCCCGGAGTCGCGCCGAACCTGGGCATGCAGGCGACGCCCCCCAGGGGCCGCTCGCGGCTGGACGGGAGCGGGAGGAGTCGGGGAGCGGCGGTCGAGCCCGGCAGGATGAGCGACGAGGGCGGCTCCAACTTCAGGCGGGTGGCGATCCGGCGGAAGTCCAACCCCTCCTACCTGCCGCCCGGGGTGCCCCGGCCCTGGAGCAGGCCCGCGTCGCACCTGGGACGTGTAGGGACCGCTGCCTTCAAGGGCCAGGTGCCCTCAGGAGCCACAG___GCAGC)AGTACCTGTCCAAAGATCGCTTTAGTTCCACCTTGCTCCACAAGCAGCACAACCACACTGGTTGGTGAGAATGTATCTGAAGAAGAGGCTCAGGGAATAAATGGGAACAGGCCAGCAAAACACTCAGCTGCAAGTCCAAAGCCACAAG___TGCCTCCAAAGCCATTACACCTGCAGAATTCACCTTCGTCCAATATACACCAAACCCCCAGGCATAAAGCTTTACCTAGTGCAAAACCAAGGATGGAGGAAATTAAACCTGCCTCTGCTTCTTGTGTCTCAAAAGAAAAACCCAGTAAGGTATCAGATCTCATCAGTCGCTTTGAAGGAGGCAG|GTTTCCTCCTGTTCTGTGGATTTCTCGTACCATGCCAGTCTAAATGCTTGTTATTGAAACCAGAACAGCCAACATGATAATATTGGTCTTCATTCTCTTGGAAAAGAATTGACAGAAGATACTCAAATAATGTGTGATTAGTATTACAAAAAGTGTTACAAAAATGTGATAAGTGTTACGAAGGAAGTACATCATGCCTGAGATTAAAGTAGGAAGTCTTTATTGCTATATTAT MSDEGGSNFRRVAIRRKSNPSYLPPGVPRPWSRPASHLGRVGTAAFKGQVPSGATGSSTCPKIALVPPCSTSSTTTLVGENVSEEEAQGINGNRPAKHSAASPKPQVPPKPLHLQNSPSSNIHQTPRHKALPSAKPRMEEIKPASASCVSKEKPSKVSDLISRFEGGr|fppvlwisrtmpv* 20BR005 ENSG00000139132.14 ENSG00000254189.1(73313),ENSG00000253423.1(26793) +/+ ./- chr12:32576449 chr8:83174159 CDS/splice-site intergenic translocation 20 34 1 146 62 high out-of-frame . . . . ENSG00000139132.14 . ENST00000534526.6 . downstream downstream duplicates(6),inconsistently_clipped(1),low_entropy(2) ^(GGTAGCGGCTTTGAGTGAGTGCGGGAGCTGCAGATACCGAGACGCTGCGACTGCCGCAGGAGTCGCCGCAGCCAAACTCGCCGCGACGCCGGGAGGGAGCGTACCGGGAAGGAGAGGGAGAGGAGGCACTCGCTGAGGAGACGCCGCAGTAGAGGGCGCCCCCGGAGTCGCGCCGAACCTGGGCATGCAGGCGACGCCCCCCAGGGGCCGCTCGCGGCTGGACGGGAGCGGGAGGAGTCGGGGAGCGGCGGTCGAGCCCGGCAGGATGAGCGACGAGGGCGGCTCCAACTTCAGGCGGGTGGCGATCCGGCGGAAGTCCAACCCCTCCTACCTGCCGCCCGGGGTGCCCCGGCCCTGGAGCAGGCCCGCGTCGCACCTGGGACGTGTAGGGACCGCTGCCTTCAAGGGCCAGGTGCCCTCAGGAGCCACAG___GCAGCAGTACCTGTCCAAAGATCGCTTTAGTTCCACCTTG)CTCCACAAGCAGCACAACCACACTGGTTGGTGAGAATGTATCTGAAGAAGAGGCTCAGGGAATAAATGGGAACAGGCCAGCAAAACACTCAGCTGCAAGTCCAAAGCCACAAG___TGCCTCCAAAGCCATTACACCTGCAGAATTCACCTTCGTCCAATATACACCAAACCCCCAGGCATAAAGCTTTACCTAGTGCAAAACCAAGGATGGAGGAAATTAAACCTGCCTCTGCTTCTTGTGTCTCAAAAGAAAAACCCAGTAAGGTATCAGATCTCATCAGTCGCTTTGAAGGAGGCAG|GCAAAGTAATTATAATACTATTCTGAAGAAAATTTTCCAAATATATATTGCATTGCAGTTTATG___GTTTCCTCCTGTTCTGTGGATTTCTCGTACCATGCCAGTCTAAATGCTTGTTATTGAAACCAGAACAGCCAACATGATAATATTGGTCTTCATTCTCTTGGAAAAGAATTGACAGAAGATACTCAAATAATGTGTGATTAGTATTACAAAAAGTGTTACAAAAATGTGATAAGTGTTACGAAGGAAG MSDEGGSNFRRVAIRRKSNPSYLPPGVPRPWSRPASHLGRVGTAAFKGQVPSGATGSSTCPKIALVPPCSTSSTTTLVGENVSEEEAQGINGNRPAKHSAASPKPQVPPKPLHLQNSPSSNIHQTPRHKALPSAKPRMEEIKPASASCVSKEKPSKVSDLISRFEGGr|qsnyntilkkifqiyialqfmvsscsvdfsyhaslnacy* 20BR005 ENSG00000067900.8 ENSG00000251886.1(59622),ENSG00000263748.1(2375) -/- ./- chr18:21070532 chr18:21180128 CDS/splice-site intergenic duplication 10 17 0 77 35 high out-of-frame . . . . ENSG00000067900.8 . ENST00000399799.3 . upstream downstream duplicates(4),mismappers(2) ^(AGTCTGCCCCGGCGGTCTCCGTTTGTTTGAACAGGAAGGCGGACATATTAGTCCCTCTCAGCCCCCCTCGCCCCACCCCCCAGGCATTCGCCGCCGCGACTCGCCCTTTCCCCGGCTGGGACCGCAGCCCCTCCCAGAAGCTCCCCCATCAGCAGCCGCCGGGACCCAACTATCGTCTTCCTCTTCGCCCGCTCTCCAGCCTTTCCTCTGCTAAGTCTCCATCGGGCATCGACCTCGCCCTGCCCCACCGGACACCGTAGCAGCAGCCCCAGCAGCGACGGGACAAAATGGGAGAGTGAGGCTGTCCTGCGTGGACCAGCTCGTGGCCGAGACTGATCGGTGCGTCGGGCCGGGCCGAGTAGAGCCGGGGACGCGGGGCTAGACCGTCTACAGCGCCTCTGAGCGGAGCGGGCCCGGCCCGTGGCCCGAGCGGCGGCCGCAGCTGGCACAGCTCCTCACCCGCCCTTTGCTTTCGCCTTTCCTCTTCTCCCTCCCTTGTTGCCCGGAGGGAGTCTCCACCCTGCTTCTCTTTCTCTACCCGCTCCTGCCCATCTCGGGACGGGGACCCCTCCATGGCGACGGCGGCCGGGGCCCGCTAGACTGAAGCACCTCGCCGGAGCGACGAGGCTGGTGGCGACGGCGCTGTCGGCTGTCGTGAGGGGCTGCCGGGTGGGATGCGACTTTGGGCGTCCGAGCGGCTGTGGGTCGCTGTTGCCCCCGGCCCGGGGTCTGGAGAGCGGAGGTCCCCTCAGTGAGGGGAAGACGGGGGAACCGGGCGCACCTGGTGACCCTGAGGTTCCGGCTCCTCCGCCCCGCGGCTGCGAACCCACCGCGGAGGAAGTT)GGTTGAAATTGCTTTCCGCTGCTGGTGCTGGTAAGAGGGCATTGTCACAGCAGCAGCAACATGTCGACTGGGGACAGTTTTGAGACTCGATTTGAAAAAATGGACAACCTGCTGCGGGATCCCAAATCGGAAGTGAATTCGGATTGTTTGCTG___GATGGATTGGATGCTTTGGTATATGATTTGGATTTTCCTGCCTTAAGAAAAAACAAAAATATTGACAACTTTTTAAGCAGAT|CTGGTTATCACACTTTAGAAAACCATGGGCCCAATGACTGTCTCAAAAGGAACACAGACCTTTGGCATCATTGTACCG___GTGAGAAGAAACATTAGAAGCAGTCAAGAGACCAGCAAGTGGGTCCTCTAGGGATGAGGAGGCATCTGAATAGACTGGGTTGTACTCCTATGTTCTGACTGCAACCCATCCATGGAGTCAAGTGTGGAATTTTCCATTTGTG MSTGDSFETRFEKMDNLLRDPKSEVNSDCLLDGLDALVYDLDFPALRKNKNIDNFLSR|sgyhtlenhgpndclkrntdlwhhctgekkh* 20BR005 ENSG00000114439.19 ENSG00000229644.6(31137),ENSG00000207271.1(70644) +/+ ./- chr3:107728960 chr10:36555371 CDS/splice-site intergenic translocation 15 4 1 52 17 high out-of-frame . Domain_of_unknown_function_(DUF2028)(100%),HMG_(high_mobility_group)_box(100%)| . . ENSG00000114439.19 . ENST00000415149.6 . downstream downstream duplicates(1),mismatches(2) ^(AAAATGAGTGTTTTCAGTCTCTCCGGGTTGCATGTACTGTATGTGGAGCAGTGTACAGTGAAGCGGAGGCAGAGCGGCTCCGCGAGCTTCTCTCCACTTTCCCATAGAGAAACCCTGACTGGCCGCTGAGGGCTAGCTACACACACGCCCTCACGCCCGGCGAGCCCGCGAG___GTCACTATCATATGACAAAGGCTTTGCCGCAGTTCATCTTCCTCCCTGTGTACTTTCCATTTGCCTTCCTGG___AATCCTGCTGCATCACAGAAGCTGGAAGTTCTGATGTTCCACTGAAATCACAATGGAAAGTCTTGACTTGACTG___GTCACAGTAATGAAAGGCAGTAATAGAAATAAGGATCATTCAGCAGAAGGAGAAGGGGTTGGAAAACGACCAAAACGAAAGTGTCTTCAGTGGCATCCATTGCTAGCAAAGAAACTTCTTGATTTTTCAGAAGAGGAAGAAGAGGAAGACGAAGAGGAGGATATTGATAAG___GTTCAACTTCTTGGGGCCGATGGCCTAGAGCAAGATGTTGGTGAAACTGAAGATGATGAATCACCAGAGCAGCGAGCCCGGAGACCAATGAATGCATTTCTTTTATTTTGCAAACGCCATCGCTCTCTTGTACGTCAGGAACACCCCAGGCTTGATAACCGAGGTGCTACCAAGATACTAGCTGATTGGTGGGCTGTTCTTGATCCAAAGGAAAA)GCAGAAATACACAGACATGGCCAAGGAG___TATAAGGATGCATTTATGAAAGCAAATCCTGGCTACAAATGGTGTCCTACCACAAACAAGCCTGTGAAATCCCCAACACCCACTGTCAATCCACGAAAGAAACTTTGGGCCTTCCCATCTGACTCTTCAAGAGACTTGCCAAGCCCCAAGAAAGCAAAGACTGAAGAAATGCCTCAGCTTAACTTTGGAATGGCTG|GTACAACTGGCTAAGAGTGTGTTAAAGATGGATATGATTCATGACTGAGAAACGTCATGAGGAGACAAAGAGACCATGCAAGTGTTCTGAAACCATTGTGCGAAGAAGAGAAAAGCTTCCATCCACTGGGCAGTGGCACCAGAGTTTGCAAATAATTGCACACAAAGGGACTTCTGTTAAGGATTACTCTCTGGAATTTTGCACTAAATTCCCAAAGCATTTTCCTTCTAACATTTTGTGATTTGGTTGAACAAGTGGTCACCTTACCCACAACCTTCATGATATCAGAGATCTCATTCATGTCTGCTGTCATTACTTCCAGC MKGSNRNKDHSAEGEGVGKRPKRKCLQWHPLLAKKLLDFSEEEEEEDEEEDIDKVQLLGADGLEQDVGETEDDESPEQRARRPMNAFLLFCKRHRSLVRQEHPRLDNRGATKILADWWAVLDPKEKQKYTDMAKEYKDAFMKANPGYKWCPTTNKPVKSPTPTVNPRKKLWAFPSDSSRDLPSPKKAKTEEMPQLNFGMA|gttg* 20BR005 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 15 4 0 200 52 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(2) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCA)GCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 20BR005 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 9 9 0 62 25 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(1),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTC)ATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGtAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIvEGAAHSQICP|gysfrrrtlqmegmqes* 20BR005 ENSG00000250919.1(7024),ENSG00000248763.2(14793) ENSG00000171234.14 ./+ +/+ chr4:69051602 chr4:69098540 intergenic CDS/splice-site deletion/read-through 7 10 0 161 170 high . . |UDP-glucoronosyl_and_UDP-glucosyl_transferase(100%) . . . ENSG00000171234.14 . ENST00000305231.12 downstream upstream duplicates(4) GCCCTCCTGGGTAGGAAATTGCCCCGGTGGAATCCCTCACCAGAGAAGCAGGTAGCAGGCCCTCGCAGAGGATTAACACAGTGGCTGAACACCAGGAAGGAACTGGCACTTGGAGTCCAGACATCTAAAATTTG|GAAGACCCACTACATTATCTGAGACAATGGGGAAAGCTGACGTATGGCTTATTCGAAACTCCTGGAATTTTCAGTTTCCtcATCCACTCTTACCAAATGTTGATTTTGTTGGAGGACTCCACTGCAAACCTGCCAAACCCCTGCCTAAG___GAAATGGAAGACTTTGTACAGAGC(TCTGGAGAAAATGGTGTTGTGGTGTTTTCTCTGGGGTCAATGGTCAGTAACATGACAGAAGAAAGGGCCAACGTAATTGCATCAGCCCTGGCCCAGATCCCACAAAAG___GTTCTGTGGAGATTTGATGGGAATAAACCAGATACCTTAGGTCTCAATACTCGGCTCTACAAGTGGATACCCCAGAATGACCTTCTAG___GTCATCCAAAGACCAGAGCTTTTATAACTCATGGTGGAGCCAATGGCATCTACGAGGCAATCTACCATGGGATCCCTATGGTGGGGATTCCATTGTTTGCCGATCAACCTGATAACATTGCTCACATGAAGGCCAGGGGAGCAGCTGTTAGAGTGGACTTCAACACAATGTCGAGTACAGACTTGCTGAATGCATTGAAGAGAGTAATTAATGATCCTTC___ATATAAAGAGAATGTTATGAAATTATCAAGAATTCAACATGATCAACCAGTGAAGCCCCTGGATCGAGCAGTCTTCTGGATTGAATTTGTCATGCGCCACAAAGGAGCTAAACACCTTCGGGTTGCAGCCCACGACCTCACCTGGTTCCAGTACCACTCTTTGGATGTGATTGGGTTCCTGCTGGTCTGTGTGGCAACTGTGATATTTATCGTCACAAAATGTTGTCTGTTTTGTTTCTGGAAGTTTGCTAGAAAAGCAAAGAAGGGAAAAAATGATTAGTTATATCTGAGATTTGAAGCTGGAAAACCTGATAGGTGAGACTACTTCAGTTTATTCCAGCAAGAAAGATTGTGATGCAAGATTTCTTTCTTCCTGAGACAAAAAAAAAAAAAGAAAAAAAAATCTTTTCAAAATTTACTTTGTCAAATAAAAATTTGTTTTTCAGAGATTTACCACCCAGTTCATGGTTAGAAATATTTTGTGGCAATGAAGAAAACACTACGGAAAATAAAAAATAAGATAAAGCCTTA)$ . 20BR005 ENSG00000122482.21 ENSG00000151388.11 -/- -/- chr1:90982310 chr5:33751548 CDS/splice-site CDS/splice-site translocation 1 13 0 39 51 high out-of-frame . |ADAM-TS_Spacer_1(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%),Thrombospondin_type_1_domain(100%) . . ENSG00000122482.21 ENSG00000151388.11 ENST00000337393.10 ENST00000504830.6 upstream downstream . ^(GCGTGCTCCCAACGTCGCCCCGGTTTGAC)GCACACGGCACCAAACT___GTTTGATTTAATTTTGGATGAGATCGTTCTTGCAGCAAGATGTTAATAAGACAAAATCTAG|ACTGGATTTTTCCAACTACCACATGGAGACTTTTTCATTGAACCCGTGAAGAAGCATCCACTGGTTGAGGGAGGGTACCACCCGCACATCGTTTACAGGAGGCAGAAAGTTCCAGAAACCAAGGAGCCAACCTGTGGATTAAAGG___ACAGTGTTAACATCTCCCAGAAGCAAGAGCTATGGCGGGAGAAGTGGGA(GAGGCACAACTTGCCAAGCAGAAGCCTCTCTCGGCGTTCCATCAGCAAGGAGAGATGGGTGGAGACACTGGTGGTGGCCGACACAAAGATGATTGAATACCATGGGAGTGAGAATGTGGAGTCCTACATCCTCACCATCATGAACATG___GTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAG___CAAGGACTGAAAATAGTTCACCATGCAGAAAAGACACTGTCTAGCTTCTGCAAGTGGCAGAAGAGTATCAATCCCAAGAGTGACCTCAATCCTGTTCATCACGACGTGGCTGTCCTTCTCACCAG___AAAGGACATCTGTGCTGGTTTCAATCGCCCCTGCGAGACCCTGGGCCTGTCTCACCTTTCAGGAATGTGTCAGCCTCACCGCAGTTGTAACATCAATGAAGATTCGGGACTCCCTCTGGCTTTCACAATTGCCCATGAGCTAGGACACAG___CTTCGGCATCCAGCATGATGGGAAAGAAAATGACTGTGAGCCTGTGGGCAGACATCCGTACATCATGTCCCGCCAGCTCCAGTACGATCCCACTCCGCTGACATGGTCCAAGTGCAGCGAGGAGTACATCACCCGCTTCTTGGA___CCGAGGCTGGGGGTTCTGTCTTGATGACATACCTAAAAAGAAAGGCTTGAAGTCCAAGGTCATTGCCCCCGGAGTGATCTATGATGTTCACCACCAGTGCCAGCTACAATATGGACCCAATGCTACCTTCTGCCAGGAAGTAGAA___AACGTCTGCCAGACACTGTGGTGCTCCGTGAAGGGCTTTTGTCGCTCTAAGCTGGACGCTGCTGCAGATGGAACTCAATGTGGTGAGAAGAAG___TGGTGTATGGCAGGCAAGTGCATCACAGTGGGGAAGAAACCAGAGAGCATTCCTGGAGGCTGGGGCCGCTGGTCACCCTGGTCCCACTGTTCCAGGACCTGTGGGGCTGGAGTCCAGAGCGCAGAGAGGCTCTGCAACAACCCCGA___GCCAAAGTTTGGAGGGAAATATTGCACTGGAGAAAGAAAACGCTATCGCTTGTGCAACGTCCACCCCTGTCGCTCAGAGGCACCAACATTTCGGCAGATGCAGTGCAGTGAATTTGACACTGTTCCCTACAAGAATGAACTCTACCACTGGTTTCCCATTTTTAACCCAG___CACATCCTTGTGAGCTCTACTGCCGACCCATAGATGGCCAGTTTTCTGAGAAAATGCTGGATGCTGTCATTGATGGTACCCCTTGCTTTGAAGGCGGCAACAGCAGAAATGTCTGTATTAATGGCATATGTAAG___ATGGTTGGCTGTGACTATGAGATCGATTCCAATGCCACCGAGGATCGCTGCGGTGTGTGCCTGGGAGATGGCTCTTCCTGCCAGACTGTGAGAAAGATGTTTAAGCAGAAGGAAGGATCTG___GTTATGTTGACATTGGGCTCATTCCAAAAGGAGCAAGGGACATAAGAGTGATGGAAATTGAGGGAGCTGGAAACTTCCTGGCCATCAGGAGTGAAGATCCTGAAAAATATTACCTGAATGGAGGGTTTATTATCCAGTGGAACGGGAACTATAAGCTGGCAGGGACTGTCTTTCAGTATGACAGGAAAGGAGACCTGGAAAAGCTGATGGCCACAGGTCCCACCAATGAGTCTGTGTGGATCCAG___CTTCTATTCCAGGTGACTAACCCTGGCATCAAGTATGAGTACACAATCCAGAAAGATGGCCTTGACAATGATGTTGAGCAGCAGATGTACTTCTGGCAGTACGGCCACTGGACAGAGTGCAGTGTGACCTGCGGGACAG___GTATCCGCCGCCAAACTGCCCATTGCATAAAGAAGGGCCGCGGGATGGTGAAAGCTACATTCTGTGACCCAGAAACACAGCCCAATGGGAGACAGAAGAAGTGCCATGAAAAGGCTTGTCCACCCAG___GTGGTGGGCAGGGGAGTGGGAAGCATGCTCGGCGACATGCGGGCCCCACGGGGAGAAGAAGCGAACCGTGCTGTGCATCCAGACCATGGTCTCTGACGAGCAGGCTCTCCCGCCCACAGACTGCCAGCACCTGCTGAAGCCCAAGACCCTCCTTTCCTGCAACAGAGACATCCTGTGCCCCTCGGACTGGACAGTGGGCAACTGGAGTGAG___TGTTCTGTTTCCTGTGGTGGTGGAGTGCGGATTCGCAGTGTCACATGTGCCAAGAACCATGATGAACCTTGCGATGTGACAAGGAAACCCAACAGCCGAGCTCTGTGTGGCCTCCAGCAATGCCCTTCTAGCCGGAGAGTTCTGAAACCAAACAAAGGCACTATTTCCAATGGAAAAAACCCACCAACACTAAAGCCCGTCCCTCCACCTACATCCAGGCCCAGAATGCTGACCACACCCACAGGGCCTGAGTCTATGAGCACAAGCACTCCAGCAATCAGCAGCCCTAGTCCTACCACAGCCTCCAAAGAAGGAGACCTGGGTGGGAAACAGTGGCAAGATAGCTCAACCCAACCTGAGCTGAGCTCTCGCTATCTCATTTCCACTGGAAGCACTTCCCAGCCCATCCTCACTTCCCAATCCTTGAGCATTCAGCCAAGTGAGGAAAATGTTTCCAGTTCAGATACTGGTCCTACCTCGGAGGGAGGCCTTGTAGCTACAACAACAAGTGGTTCTGGCTTGTCATCTTCCCGCAACCCTATCACTTGGCCTGTGACTCCATTTTACAATACCTTGACCAAAGGTCCAGAAATGGAGATTCACAGTGGCTCAGGGGAAGAAAGAGAACAGCCTGAGGACAAAGATGAAAGCAATCCTGTAATATGGACCAAGATCAGAGTACCTGGAAATGACGCTCCAGTGGAAAGTACAGAAATGCCACTTGCACCTCCACTAACACCAGATCTCAGCAGGGAGTCCTGGTGGCCACCCTTCAGCACAGTAATGGAAGGACTGCTCCCCAGCCAAAGGCCCACTACTTCCGAAACTGGGACACCCAGAGTTGAGGGGATGGTTACTGAAAAGCCAGCCAACACTCTGCTCCCTCTGGGAGGAGACCACCAGCCAGAACCCTCAGGAAAGACGGCAAACCGTAACCACCTGAAACTTCCAAACAACATGAACCAAACAAAAAGTTCTGAACCAGTCCTGACTGAGGAGGATGCAACAAGTCTGATTACTGAGGGCTTTTTGCTAAATGCCTCCAATTACAAGCAGCTCACAAACGGCCACGGCTCTGCACACTGGATCGTCGGAAACTGGAGCGAG___TGCTCCACCACATGTGGCCTGGGGGCCTACTGGAGAAGGGTGGAGTGCAGCACCCAGATGGATTCTGACTGTGCGGCCATCCAGAGACCTGACCCTGCAAAAAGATGCCACCTCCGTCCCTGTGCTGGCTGGAAAGTGGGAAACTGGAGCAAG___TGCTCCAGAAACTGCAGTGGGGGCTTCAAGATACGCGAGATTCAGTGCGTGGACAGCCGGGACCACCGGAACCTGAGGCCATTTCACTGCCAGTTCCTGGCCGGCATTCCTCCCCCATTGAGCATGAGCTGTAACCCGGAGCCCTGTGAGGCGTGGCAGGTGGAGCCTTGGAGCCAG___TGCTCCAGGTCCTGTGGAGGTGGAGTTCAGGAGAGAGGAGTGTTCTGTCCAGGAGGCCTCTGTGATTGGACAAAAAGACCCACATCCACCATGTCTTGCAATGAGCACCTGTGCTGTCACTGGGCCACTGGGAACTGGGACCTG___TGTTCCACTTCCTGTGGAGGTGGCTTTCAGAAGAGGACTGTCCAATGTGTGCCCTCAGAGGGCAATAAAACTGAAGACCAAGACCAATGTCTATGTGATCACAAACCCAGACCTCCAGAATTCAAAAAATGCAACCAGCAGGCCTGCAAGAAAAGTGCCG___ATTTACTTTGCACTAAGGACAAACTGTCAGCCAGTTTCTGCCAGACACTGAAAGCCATGAAGAAATGTTCTGTGCCCACCGTGAGGGCTGAGTGCTGCTTCTCGTGTCCCCAGACACACATCACACACACCCAAAGGCAAAGAAGGCAACGGTTGCTCCAAAAGTCAAAAGAACTCTAAGCCCAAAAGGAAGCCAGCTTCCACCAGACTGCAGCAGCCTGCTGACCATGACATGCTTTAGCCCTGGGAGCTGCTTCGTTGAGGTTTTGCTTCATATATTTCAGATTCAGCTTTGGGTCATGATGAAACAAAATCCATTGTGTTCCTCTAGCCACCGAATGTCCCTCACAGGAGGCCTAGGCTGCCGTACTTGCTGCTCCCTGATAGGAAGGTGAAATAGCTAGGAGAATCAGGCAGCACCTGGTATCGGCTCCTGGGAAAGGTGCCAGGTTAGACAGATTTGTGAAATACTGTATTTTTGTTCTCCCTTAAAGATAAAAACAAAGAGACCAGCTATTTCCCTGACTACCTCAAGAGTATCAGGCAACACTTACCCAGGGGACAAATAATCTTCTTAATTTATCTTGATGAATACCTTTCTTTTTTTTTTCTTGCCTCCCTGCCTGGGGCAGCTGCTATTTAAAATGTCACAGCGGAGCTTTAGGAACATTCCTTTAATTCATCCAGGCAGAGGACTGCTTTCTTCACCCCATGTTCAACTAGGGCAGGAAGTGCTGGTTACATCCCTCAGTCTCTTCCTCCATCCCTGTAGGGCTCCATATCTGGGCTGCTTAGAGTCTCCTGCCAACCTTGGGACACTAGACTAAGAGGAAACAGGCATAAGAAACACAGCCTAAGGGGTTTAGGTCACTTACACAGAAAACACTTCTGGTTTGAAGAGCATTTCTATGAAAACTCGTAAAATGCAAATGAGCAGAAATCAATTTCTTAATATTACAGAAAAGGAACTGTGGGCCTTTATTCTTCCCACTTTCCTGGCAAATACACACTCCTTTGCAGAAGGGAAAATGTGTCTTCCTGGCTGACTTCCTCCCATCCTCCAGTCCCCACAGGAGGCCTGAGCTCAGGTCCCACCATCGTCTTGCTGCAGGGGCTGTATATGCAAAGACCACTATGACCAGCTCTAGGGCTGCCACCTGTCCTCACCTCTTCTCAGGTTGGAAAATGGAGGTTCCATATTAAAATATTTCAAAGAACCAGGTAAATTGTACTAAGTACAAGAACATAGTGCAAACTTCTAATCTAGAGAAAAAACATTTCTAAAAAGTAAGGTAAAGGGGATCTACTCCTCAGTGTACCCAATATGTAGTTAGTCTTAAAGATCTTTTACTTTGGGGAGAACAGGTGAATCAGGGAGTCCAAAGAAACTGAAATGAAAGTTAGAATGCTTGTTCTGGATGTTCCTACCTCCCACCAGAAGTCAAAGTAGGCTTGGTCTCAAATTCAGAGCAAATTTCTAGACAAAGTGATTTCTAAGGGAAGGTACTTACATGAACTGAACCCAGAGAAAGAGGGTAAGTGGGTGGGTGGAGGGGCATAAGCTTCAAATGAAAGAAGATATCAGAACCAATTCTTGACAGGGAGAAAGGCAAGGATGTGGCCTTCATGTGATGGGCAGCATATTTTCTGACTCATGCACAGATACACTTAATACTCCTCATGGAACACAATATCCCACGTCTCCCTTTACCTATCCGTTCAGCAGAATGGTGCTATTAAAAAAATGGTGCTAATATCTAGATGGTGGCAGAATTAATGTAAACATAGATAGGCATACAAATGGGTAAGTGTATGTGAAACTCTCCATATACATCTTCTGTTAAACATGTAACGGTGTTGCTGACCAATGCCAGTTTTATTGCTTGGGTACCTTGAATTTAAGATTTAATATTATGTGCTTTTTATTTTTTTCCAAGCCATTAACGTGTATTACTCTCATGAATTCCTGTGAAAAATAAAACAGTGGGATTGGGATGAAATTCAAGATAGACCAGAAACAGGAGGAAAGTACAAATGTTTACCTAAAGCCAGAGAATTTATTTCTAGATGATAATTACATTATTGTATTCTCTGCCTTTAAACATAAACATTGCTGGCCGATAGCAATCTCTGGTGAATAATGGTTTTCGAGGAGAGGAGACACTTAAATTGTTAGTGACATGAGTGGAGGAGAATCTGATATTTACTAATGAGGCAGTTTGCAAAGACTGTCCCTGAAGTGTAGTGTAGTCTTTCAGGGGGATTCATTTAGTAAGCTAGATTGATTTAACCTGGTACTGTACTAGCATAGGGTCAAATACGTGTCATCAGAGACCTGGGTATGACCAGGCTTACAAAACTCAGGAACAAACTCAGATTCCTACTGACCTCAACCAACTAAACTAGGCCAAATTTCTCCGTGTACAAAATGGACCACGTTATTTACAATCCACGTGGTGGAGAAGATGGTAGACATGTGGAGAGAGTTTGGCCAGGTGCTCCATTCTAGGTCTTTTTCCAGTTTCTCAAAGGCAGAACATTGGCTCCTAATTATTTGCCATGGATATTTGCTTCCTGTTCTGGAGCTATGTTGTAAGACAGCTGTGTGATGTCCATCATTCTTGACTCCAGAATGAAGACAGGGCTTGCTGTTTTCTGTCCTGTTGGTATCATCTGTTGCCTTGGCGATCACTCAGTGATGAGTCGTCAGTATTTTGACATGTCCCAGTGCTTGCTGTACAAGAGGGGACTCAGATCAACAGGAAGACTCTGAAGACAGGAACCTGCATGGTATCTTACATCTTTGATACTTGGGTGCTGATATGAAGCAGAGTTGTTGATTTACTTTATCTAGGCCCTTCTTTCTTCTCACCTGGATCAAGCAACTGAGAAGTGTATCAGGAGACACTGGATACATATCTCTATGAAATAGAGAGGGCCATCGCAGGGCCTGGTACTTAACTACATTAACGTTCTAAAACCCAGTTTGGTTTACGTTGTCTTTCACAGTAGTATATTTAGCTCTTCTCTGGAAAGTTGTGGGTTAATATAATTCTTAAACATGAAAATGTAATTAAACACACCACGAGAGAACAATATTCCAGGAGACTTAATAGTGATTACTTTCTTCAATCAGGAAATCGTTTCAGTGCCTCCTTTGTAGGAATGCTTTGTTTTGTGATGGGTTTTCTTAAAGAAGAGCACACCTCCGTCCAATCTCCTGAGACAGCCACGTCTCCGCTGACATCCCACTGTGATGCTTTCAGATAGTCAGTGAATGTTTCTGATAACCTTCATCCAGTATCTGAAACACAATGTGAGAGATTATATTGTTTTAGATAATAACATCCCATTTAGTTGACTAAAATCTTCCAAACTCTGAAAGCTGCACACTGCTACTCCAGAGAGTGCAGGTCTTAGCTCTTCTCCTTTCTGACTTCAAGATGAATCTTTGGGACGATGTTTCTGGTGCTTGGTCCACAGTGATTCACTTTTGAAGGAGAGGCCACATGACATGAACTGCCTGGTGTTACAACCTAGCTAACATATTTGATGCTACTCCTGTTGTCTGTACTGCTTATTCAAGTAGTATTCTAAGTTATGTTACTAAAAAACATGGTGGGTAAAGCACAATCCTACCCATCATTGTCCTCCAAAATAATTGTATGACATACACGGCCCAGCCCATTGCCCTCCCTGCATCTCTGTGCTGCTTTGCCATTTCCCCTTCTACCCAGCCTCCTCAAGGGGTACCTTGGTGGATATTTCAGTACTTAAAACCAGACTGTAATCATAACCTCCCTCTGTGTGGCATCAATAAATAGCCAAACTCA)$ MRSFLQQDVNKTKSr|ldfsnyhmetfslnp* 20BR005 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 2 8 0 24 13 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAG)GTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTG___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGATGAGTATG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvdsrplpdvaltgkctrecdey 20BR005 ENSG00000162613.16(201),ENSG00000273338.1(25053) ENSG00000162616.9 ./+ +/+ chr1:77979293 chr1:78013051 intergenic CDS/splice-site deletion/read-through 3 7 0 14 85 high . . |DnaJ_C_terminal_domain(100%) . . . ENSG00000162616.9 . ENST00000370763.6 downstream upstream duplicates(2) GGGCTGAGAAAGAACGACAGGAACAGAGACGTCGCGAGGATTAAGTTTAAGACTTCGCGAGAACAGAATTTCTTTTGGCACCTCCTCTCCGCGCGTTCTTGGG|GGTTGAAAGGAGGAGCAGGAGGTACTGATGGACAAGGAGGTACCTTCCGGTACACCTTTCATGGCGATCCTCATGCTACATTTGCTGCATTTTTCGGAGGGTCCAACCCCTTTGAAATTTTCTTTGGAAGACGAATGGGTGGTGGTAGAGATTCTGAAGAAATGGAAATAG(ATGGTGATCCTTTTAGTGCCTTTGGTTTCAGCATGAATGGATATCCAAGAGACAGGAATTCTGTGGGGCCATCCCGCCTCAAACAAGATCCTCCAGTTATTCATGAACTTAGAGTATCACTTGAAGAGATATATAGTGGTTGTACCAAACGGATGAAGATTTCTCGAAAAAGGCTAAACGCTGATGGAAGGAGTTACAGATCTGAGGACAAAATTCTTACCATTGAGATTAAAAAAGGGTGGAAAGAAGGCACCAAAATTACTTTTCCAAGAGAAGGAGATGAAACACCAAATAGTATTCCAGCAGACATTGTTTTTATCATTAAAGACAAAGATCATCCAAAATTTAAAAGGGATGGATCAAATATAATTTATACTGCTAAAATTAGTTTACGAGAG___GCATTGTGTGGCTGCTCAATTAATGTACCAACACTGGATGGAAGAAACATACCTATGTCAGTAAATGATATTGTGAAACCCGGAATGAGGAGAAGAATTATTGGATATGGGCTGCCATTTCCAAAAAATCCTGACCAACGTGGTGACCTTCTAATAGAATTTGAGGTGTCCTTCCCAGATACTATATCTTCTTCATCCAAAGAAGTACTTAGGAAACATCTTCCTGCCTCATAGAATGAAGAACTTTGTTACACATATTTTGATAAGGCACTGAAAATATAAAAGGACTGGTAGTTTACTGATGTAGATGTGAATTCTGTATAAAGATGTGTAAATTCTTTTGAGGGTTCATTAAATTGCATGAATAGAGACGGGTCAAATAAATAGGCAAAAGGGATTTTTACAGTTAGAGATAAAAGAGAAAACCATTCACTGTATTTTATTTCATTTCTCCTGATTCAGATATTTTTAGTAATTTGCTTATATGTAAAAGTTGTTTTTGTGGAGTCAGTGGATATATTTCTAATGAAGTGCTAGACTATCCAATTACTTAATTTCTTATACCTTTAGATAATCAGTATGAAAAGTTCCCATTTATAATGGAAATGAAAATTCTTAACTAAACTATACATGTAATATGTATTTCTAGAAGAGAATAAAAACCCAAGTCAGTTATTAGATTTAAATCACCTTCTGAAATGCTGCTATAGGGCTGGTATCTGTAAAAGAATATCCTGATGCATCTGTTTCACCATTTTGATTTTTAAAGTATGCTGTAGCATTTCTTAATAACATCGTTGTGATGTTCTTAAGGCAGATCTTTCTTCATAAAAAGGAAAGTAATGGCAATTTCTCTCCTGTGGAAATCCCAATTGCTTGAATTACTGATATTTTAGAATAGACTTTTTAAAATGCCATATGTAATTTTATGCAAGTTGACTATATATCTTGTACTTAATAAATTATAGGCTCATTTTGTTCTCTGCTAGTTTAAAGTAATTCGTTTAATAATAGATGTGTTTTTAGAGGAAATGCTGTTACTTGGAATTAATTTTCCAGTTATACAGTCTTCTATAACTTACTAATAATATTCTATATGTACTTTATGTAATTTCCCTAAAAAGAATGAACTACCACTACACTATGGTGTTAAACCAAAATATAGGGAAAATAAACACTAACTGCTGCTTATGGATAATGTTGCAACTACTTGTTATGCATATAAATATTTTACTTTTTCACATGTATAGATTGCATTTCTTAGGTGTTTTAATTTTTTAAATATATTTATGTTTTAAAAATTTAGTTTTGTTTTCTGTTTTATAACTATAGTGAGAATGATGTTTTGAAGCAAAATTTTTGGTTATAAAATAGTTTTCAGGATTATATATATATATACTGGATCCTATCGCCTTTTAGTAGAATATGAAATATTCTTTTAGAAATCCAATATAAATAGGTTATAATAGCCATATTCTTTATTACTTTATTGAGATATAATTTACATGCCATAAAGTTTACCCTTAAAATATATAATTCAGTGGTTTTTAGTGATATTTACAAAGTGGTACAATCATCATCACTTTCTAATTCCAGAATATTTTCATCACCCCAAAAAGAAATCCTAAATCCATTAGCAGTTACTTCCCATTCTTCCCTTCCTCCAGCCCCTGAAAACACTACCATCTACTTTTCATCTGTATGGATTTGTCTGTTCTGGACATTTCACATAAATAGACTCAAACAATATATGGCTTTTTTTTTTTTTGGTCTGGCCTCTTTCATTTAGCTTAATGTTTTCAAGGTTCATCTATGTTGTATCACGTATCAGTACTTTATTTTTTGTGTGGCACGTCATATGGATATACCACAATTTGTTTATCTTTTCATTAATTATGGGCATTTGGCTTATTTCTACTTTTTTGGCTATTATAAATAATGCTGCTGTGAA)$ . 20BR005 ENSG00000067900.8 ENSG00000251886.1(59622),ENSG00000263748.1(2375) -/- ./- chr18:21070532 chr18:21180128 CDS/splice-site intergenic duplication 3 5 1 77 35 high out-of-frame . . . . ENSG00000067900.8 . ENST00000399799.3 . upstream downstream duplicates(2) ^(AGTCTGCCCCGGCGGTCTCCGTTTGTTTGAACAGGAAGGCGGACATATTAGTCCCTCTCAGCCCCCCTCGCCCCACCCCCCAGGCATTCGCCGCCGCGACTCGCCCTTTCCCCGGCTGGGACCGCAGCCCCTCCCAGAAGCTCCCCCATCAGCAGCCGCCGGGACCCAACTATCGTCTTCCTCTTCGCCCGCTCTCCAGCCTTTCCTCTGCTAAGTCTCCATCGGGCATCGACCTCGCCCTGCCCCACCGGACACCGTAGCAGCAGCCCCAGCAGCGACGGGACAAAATGGGAGAGTGAGGCTGTCCTGCGTGGACCAGCTCGTGGCCGAGACTGATCGGTGCGTCGGGCCGGGCCGAGTAGAGCCGGGGACGCGGGGCTAGACCGTCTACAGCGCCTCTGAGCGGAGCGGGCCCGGCCCGTGGCCCGAGCGGCGGCCGCAGCTGGCACAGCTCCTCACCCGCCCTTTGCTTTCGCCTTTCCTCTTCTCCCTCCCTTGTTGCCCGGAGGGAGTCTCCACCCTGCTTCTCTTTCTCTACCCGCTCCTGCCCATCTCGGGACGGGGACCCCTCCATGGCGACGGCGGCCGGGGCCCGCTAGACTGAAGCACCTCGCCGGAGCGACGAGGCTGGTGGCGACGGCGCTGTCGGCTGTCGTGAGGGGCTGCCGGGTGGGATGCGACTTTGGGCGTCCGAGCGGCTGTGGGTCGCTGTTGCCCCCGGCCCGGGGTCTGGAGAGCGGAGGTCCCCTCAGTGAGGGGAAGACGGGGGAACCGGGCGCACCTGGTGACCCTGAGGTTCCGGCTCCTCCGCCCCGCGGCTGCGAACCCACCGCGGAGGAAGTT)GGTTGAAATTGCTTTCCGCTGCTGGTGCTGGTAAGAGGGCATTGTCACAGCAGCAGCAACATGTCGACTGGGGACAGTTTTGAGACTCGATTTGAAAAAATGGACAACCTGCTGCGGGATCCCAAATCGGAAGTGAATTCGGATTGTTTGCTG___GATGGATTGGATGCTTTGGTATATGATTTGGATTTTCCTGCCTTAAGAAAAAACAAAAATATTGACAACTTTTTAAGCAGAT|CTGGTTATCACACTTTAGAAAACCATGGGCCCAATGACTGTCTCAAAAGGAACACAGACCTTTGGCATCATTGTACCG___GTGAGAAGAAACATTAGAAGCAGTCAAGAGACCAGCAAGTGGGTCCTCTAGGGATGAGGAGGCATCTGAATAGACTGGGTTGTACTCCTATGTTCTGACTGCAACCCATCCATGGAGTCAAGTGTGG MSTGDSFETRFEKMDNLLRDPKSEVNSDCLLDGLDALVYDLDFPALRKNKNIDNFLSR|sgyhtlenhgpndclkrntdlwhhctgekkh* 20BR005 ENSG00000015133.19 ENSG00000151834.15 -/- -/+ chr14:91359642 chr4:46285391 CDS/splice-site intron translocation/5'-5' 1 7 0 21 16 high out-of-frame . HOOK_protein(100%)| . . ENSG00000015133.19 ENSG00000151834.15 ENST00000389857.11 . upstream upstream duplicates(1) ^(GCCTTTGTCTCCCGGGCGCGAGCCGCCGCAGCCCCGCGCCCGCTGCTCGCTGCGGAGCCGTTTTGTGCCGCGGCGCGGGGGAACGGGGACGCGGGGCGGGGGGCGCGGAGCCGGCGGGCGCAGCCTCAGCATGGACGTGACAGTCTCGGAGCTCCTGGAGCTCTTCCTGCAGAGCCCGCTGGTGACCTGG___GTGAAAACTTTTGGCCCGTTTGGAAGCGGCAGCCAGGACAACCTGACTATGTACATGGATTTAGTGGACGGCATCTTTTTGAACCAAATTATGCTGCAAAT___AGATCCCAGGCCCACAAATCAACGCATCAATAAGCACGTCAACAATGATGTGAACCTTCGCATTCAGAATTTGACCATCTTGGTGAGAAACATTAAGACCTACTACCAG___)GAAGTTCTCCAGCAGCTGATTGTAATGAATTTGCCCAATGTTTTGATGATTGGCAGAGACCCACTGTCTG|ATAACCTGGCAGCCTTGACACTAAACACCTTCTGCTGATT___AAACAGGGACTGGCTTTGTTGCCCAAGCTGGCCTTGAACTCCTGGCTTCAAGTAATCCTCCCACCTTGGCCTCCAAAAGTGCTGAGATTACAG___TATAGACTATTT...___ACAACTGAACTTCATAGGCGGTGAGTGGAATGAGGACTTCTCTGCTCTATATCTTTATTCATGG...GCAAATGGTGAAGGTGAAGGTGTTTATGGTCCAAGTCTCAAAGTTGTATACACCACTTCAGTCCACATCTCATTTGACAAGTGTAGTCATGTAGCTTTATCTGACTACAATGGTGACAGGCAAGTAAAGCATACTCATTTATTGTATTTT MDVTVSELLELFLQSPLVTWVKTFGPFGSGSQDNLTMYMDLVDGIFLNQIMLQIDPRPTNQRINKHVNNDVNLRIQNLTILVRNIKTYYQEVLQQLIVMNLPNVLMIGRDPLS|dnlaaltlntfc* 20BR005 ENSG00000040199.18 ENSG00000185973.11 -/- -/- chr16:71656571 chrX:155492495 CDS/splice-site CDS/splice-site translocation 0 6 1 64 112 high in-frame . Leucine_Rich_repeat(100%),Leucine_rich_repeat(100%)|Taurine_catabolism_dioxygenase_TauD__TfdA_family(100%) . . ENSG00000040199.18 ENSG00000185973.11 ENST00000568954.5 ENST00000334398.8 upstream downstream duplicates(1) ^(GCACAGGGGTATAGATCTAAAGAAGGGCAGAGGGGAGATCTGGAAACAGGCTGGCTGACTCCAAATTTGGCCCATTGGCAACAAAACTACTATCACTGCGAGAACGAAAAGAAAAACAAAACAAAGAAAAGAAAAGAAGTTAACTTTTAAAAGTTTTTTTCTGAATCAGCCTTGCAAATAAATCATAAACCGGGTCACAGGCCATATTACTGCTTGAAGCAGAGCACCGAATTCTGATAATTTTGCTCCAGGAGGAGGCAAGGGAATTAAAACATGGCTGGGAGGTGAGCGGACGTTTTGTACGAGGTTGGGTTGAATTTGCTTAAGAAGGTCGCACGCATCTCTGATAAGGAAGAGAAAAGGCCTTGCCAAG___AGAAATATGAAACGCAATGGGAGCAGAAATTGTTTGAATAGGAGAAGTAGGTTTGGTTCTCGAGAAAGAGACTGGCTAAGAGAAGATGTAAAGAGAGGCTGTGTTTACCTTTATGGAGCAGACACTACCACTGCCACTACAACCACCACCACCTCCTCTTCCTCTTCCTCCTCCTCCTCTTCCTCTGACTTACATCTCGTCCTTTGCACTGTAGAGACACCAGCATCAGAAATATGTGCTGGAGAGGGAAGAGAAAGTCTTTATTTACAGCTTCATGGAGACCTGGTCAG___GAGACTGGAACCTACTGAACGACCTCTTCAGATCGTTTATGATTACTTATCCAGGCTGGGATTTGATGATCCTGTGCGCATACAGGAGGAGGCTACAAATCCTGACCTCGGCTGTATGATTCGATTTTATGGTG___AAAAACCATGCCACATGGATCGTTTGGATCGAATCCTATTGTCTGGCATCTATAATGTACGCAAGGGAAAGACCCAGCTGCATAAGTGGGCTGAGCGCCTAGTTGTCCTCTGTGGTACCTGCCTTATCGTTTCCTCAGTGAAGGATTGTCAAACTGGAAAGATGCACATTTTGCCTCTGGTTGGTGGAAAG___ATAGAAGAAGTGAAGCGACGGCAATACTCCCTTGCTTTCAGCTCAGCAGGAGCCCAAGCTCAGACCTATCATGTCAGCTTCGAGACTTTGGCCGAGTACCAGCGATGGCAACGGCAAGCATCCAAG___GTGGTGTCCCAGCGAATCAGTACCGTGGATCTCTCGTGTTACAGCCTCGAGGAGGTTCCTGAGCATCTCTTCTATAGTCAAGATATTACCTACCTCAACTTGCGACACAACTTCATGCAGTTAGAAAGACCCGGAGGCCTCGATACACTCTACAA___ATTTTCTCAACTGAAGGGCCTGAACTTGTCCCATAATAAACTTGGGTTGTTTCCTATATTGTTATGCGAGATCTCTACCCTGACTGAGCTCAACCTTTCCTGTAATGGATTTCATGACCTACCAAGTCAAATTGGCAATCTGCTAAA___TCTTCAAACCCTCTGTCTTGATGGCAACTTTCTGACTACTTTACCTGAAGAATTGGGAAATCTACAACAGCTTTCCTCCTTGGGAATTTCCTTCAACAACTTTAGTCAAATTCCTGAGGTTTATGAGAAACTCACTATGTTAGATAGAGTGGTTATGGCAGGAAATTGCCTGGAAGTCCTGAACTTAGGGGTGCTGAATAGGATGAACCATATCAAGCATGTGGATTTAAG___GATGAACCATTTGAAAACCATGGTTATTGAAAATCTGGAGGGAAATAAACACATCACCCACGTGGATCTGCGGGACAACCGACTGACTGACTTGGATCTTAGCTCCTTATGCAGCTTGGAACAGCTGCACTGTGGGCGGAATCAGCTGAGGGAGCTAACACTCAGTGGCTTTTCCCTTCGGACCCTCTATGCCAGTTCCAACA___GGCTGACAGCAGTGAACGTCTATCCAGTACCCAGCCTGCTCACTTTCTTGGATCTCTCCCG___AAACCTGCTAGAGTGTGTCCCTGACTGGGCCTGTGAAGCAAAGAAGATAGAAGTATTAGATGTGAGCTATAATCTTCTCACAGAGGTTCCCGTGAG___AATTCTGAGTAGCTTGAGTCTTAGAAAACTGATGCTGGGACACAATCATGTGCAAAACCTTCCAACACTGGTAGAGCACATCCCCCTCGAGGTGCTGGATCTTCAGCATAATGCACTCACGAGGCTGCCAGACACCCTCTTCTCCAAGGCCTTAAA___TCTCAGATACTTGAATGCATCTGCAAATAGTCTGGAGTCTTTACCATCCGCCTGCACTGGAGAGGAGAGTTTGAGTATGCTGCAGCTGCTTTATCTGACCAACAATCTCCTGACGGATCAGTGCATACCTGTCCTGGTAGGGCACCTGCACCTGCGAATCTTGCACCTTGCAAACAATCAGTTACAGACCTTTCCTGCAAG___CAAACTAAATAAATTGGAGCAATTGGAGGAACTGAACCTAAGTGGCAACAAGCTTAAAACCATTCCCACAACCATAGCAAACTGTAAAAGGCTGCACACCCTTGTTGCACACTCCAACAACATCAGCATTTTCCCAGAAATACTGCAGTTGCCTCAGATCCAG___TTTGTAGACCTAAGTTGCAACGACTTGACAGAAATCCTGATTCCAGAGGCTTTGCCTGCTACATTACAAGAC)CTTGACCTGACTGGAAATACAAATCTGGTTCTGGAACACAAGcCACTGGACATATTTAG___CCATATCACAACCCTGAAAATTGATCAGAAACCTTTGCCAACCACAGATTCTACAGTTACGTCAACCTTCTGGAGCCATGGACTGGCTGAGATGGCAGGGCAGAGAAATAA|GTACAACAACTATGACCGGGCTGTCATCAATACCGTTCCTTATGATGTCGTCCATCGCTGGTATACAGCACACCGGACTCTAACGATAGAGTTGAGGAGACCTGAGAATGAGTTTTGGGTCAAACTAAAGCCTGGCAGG___GTCCTATTTATAGACAACTGGCGTGTCCTACATGGCAGGGAATGCTTCACTGGCTACCGCCAACTGTGTGGCTGCTATTTAACAA(GAGATGATGTATTAAACACTGCTCGCCTCTTGGGGCTTCAGGCTTAAAATTGACAGCATCTGGATTATGAATACACCTGGCACCCTGGCTACCAGAATTTCATATGGGCAGAATAATATTGTGTCAAACTCTACTTCAGATTGTCTCCTTATCCCATCCCACAAAACAGAATCTGTCCGTTTCTCTAGTAAGGGAGACTTGTTGGAGAGGCGGGACTCTGAGTTATCTAATGTCAGACATCTAGTGGGGCAGCTCTCTTCCTCATGTTATAACATGGATCCACTTGTTTGATTTAAACCTTTTAATATAATTTTGGTCAGTCTCCTTCAGAAATATAATCTCCATATTGATAGGAAAGCAATAATTGCCATGAGGTAACGATTTTTTTCCCAAGTAGATCAGTTAGAAAGAAATGCATTCTAGAAATAACAAAAATCCTGATAAAGCAACAATTTGCAAAATGTTTGGTCTTAGGACACCTTAACACTCTTAAAAGTTATTGAAGGCCCCAAGGAGTTCTTGGGTGTGGGTTCTATCTATTGATACTAATTATTTTAGGTATTAAGACTGAGAAATATTTAAAGCTCAAGAAGAACACAGAAGCACACATCCCTCAGCTATGAGAGAGATGACATAACCATATGTCATGTAGCCTCTGGAAAAGTCCTCTGTATCCTCATGAGATAACGAGAGGGGGAAAAAAAGCTACTACTGCCTTTGTAACTTCCACTTAGCCTACTACAGGGCTATGCACATCTTAGTTTCCAAAAGTCTGCTTAATTTCAAAAGAAAAATGCCTAATTGAATGTAACTCATCTTGGTGTTATTATACAAAATAATTTTTAATCTGCAGACCCACGAAAAGGGTCTCAGGGACTCCTCCAGGGGTCTTCAGACCATACTTTGAGAACCCATGGGCTAGCGACTACCTTGAGACAGTCCTTTACCTAGGCCTGTGGATTAAAGGGTTTAGCTGAAACCCTAGATTCTTCTCTGTAGTCTAATAGAACTCCAAACATTGTAAGAATTGCTTGGTAGCATAAGCTCAGGGATAAGGTGGGAATTGAGTTCAAATATAGTGTTTTATCTTCCACACAAATCATCTCTATAGGAGTTAAATTAGGAAGTCACAACAGCGCCTGTTGAACAAACTCATCAGTGTGGTAATCCTATGAGGGATAATTGCAGAAAGGTTTTAGAGACTTGTGAGGTTCCATATGATAATTCTTTACACCTCCCCCCCCAAGAGAAAGTACACAGGGCTATTCTGTAATATTGTTCAGGGAAATCAGCATGATAGATGCTGTGCCTCCAGAGAGTTCTCTGGAGATTACTACCCAAATGTGTATTTTGGCAATTTGGTGGTATTTAGGATGTAATATGTTTTCCTCCATTTCTGCTAATTTTCTCTCTCTCTCTCTCATAACATACTATACATGCTAATTGCCAAGATTTGAATGAGTCAAATTTAGTAGCTTGCTGCTTTTATTTTTTAAATGGCTTCTTTTACGTATTGGCGGGGGCGGGTGGGGGGCAGGGTATGAGGCTTCTTTTCCCTCAGCTTTCATTGAAAGTGAAGCTGTACAATAACCACATTGACCACTGTAGAATGATGAAAGAGAATATAGGCTAGGATGCACACAAGAGGGGGGAAAAGGCATTATTAGTGAAGATAGGAGTTACAAAGCAAAGCAAAGTCAGTATTCAGATAGAGAATAGAGCCTAATCTGATGTTTGCAGGGAGTTCCTAGATCACATTTGGCAATTTACACATTATTTTATTGACCTATCCAGTGCTCCAAAATGTGTTCCAAAATATTTTGGCATTTTATTTGTACTACATAGGAATCTTTAGGGGAGTCCCTGAAATTTGTTTTCCTCTTAGGTCAAAGGACTGATAATTAACTTTGGTTCTTAAGGAGTATGCCCTTTAGCAATAAGAACAGCAATAACATTTTACCCTGCAGTTTTTTCTCTATACCTACTATTATGCACTCCTAAAATATGTCATCATTAGTCTTCATGAGGATGTTTACCATTTCTGAAGTTTTGCGTAAATTAGCCTTGAAGATTACACTATAACTGAGGTCATCAGCATTGACTTATGGCCAGCAAAGGACATGCTCATGGCCCTGGAGAGATGAGGACACAAAACAAATCAATTTCCCCACTTACTGAAGGACTCCCCTTACCTTCTGTCTCTCCTGAGACCTTGACTCATTAATTATTTTACTCTCCTTTTTGGAAATTTGCAACCGGTCCTTCTCAACAATGTGCTCCCTTTAGTACACTGAAGAAAAAGAGAAGGGGATTATTTGAGTCCTGATCACGATGCATTGAAAACTTCCTATGTGAGATGTTTCTGTTTTTATATCTCTTCCAGGTGTCCCTGAGTATATAAGCATGGGTCTATGTCTACCAAGCTCACTGTAGAGTCACTTTTACCTTTTGCTATGGTGGAATGGGATCTGTAGGGTCAGGAACACAGCACCTAACACAGTGCCTTATGGATAGTAGTTTTATAATACAGATGTGTTGGAAGAATAAATGAATGGGTCCTTTTCAAACAAA)$ MKRNGSRNCLNRRSRFGSRERDWLREDVKRGCVYLYGADTTTATTTTTTSSSSSSSSSSSDLHLVLCTVETPASEICAGEGRESLYLQLHGDLVRRLEPTERPLQIVYDYLSRLGFDDPVRIQEEATNPDLGCMIRFYGEKPCHMDRLDRILLSGIYNVRKGKTQLHKWAERLVVLCGTCLIVSSVKDCQTGKMHILPLVGGKIEEVKRRQYSLAFSSAGAQAQTYHVSFETLAEYQRWQRQASKVVSQRISTVDLSCYSLEEVPEHLFYSQDITYLNLRHNFMQLERPGGLDTLYKFSQLKGLNLSHNKLGLFPILLCEISTLTELNLSCNGFHDLPSQIGNLLNLQTLCLDGNFLTTLPEELGNLQQLSSLGISFNNFSQIPEVYEKLTMLDRVVMAGNCLEVLNLGVLNRMNHIKHVDLRMNHLKTMVIENLEGNKHITHVDLRDNRLTDLDLSSLCSLEQLHCGRNQLRELTLSGFSLRTLYASSNRLTAVNVYPVPSLLTFLDLSRNLLECVPDWACEAKKIEVLDVSYNLLTEVPVRILSSLSLRKLMLGHNHVQNLPTLVEHIPLEVLDLQHNALTRLPDTLFSKALNLRYLNASANSLESLPSACTGEESLSMLQLLYLTNNLLTDQCIPVLVGHLHLRILHLANNQLQTFPASKLNKLEQLEELNLSGNKLKTIPTTIANCKRLHTLVAHSNNISIFPEILQLPQIQFVDLSCNDLTEILIPEALPATLQDLDLTGNTNLVLEHKpLDIFSHITTLKIDQKPLPTTDSTVTSTFWSHGLAEMAGQRNk|YNNYDRAVINTVPYDVVHRWYTAHRTLTIELRRPENEFWVKLKPGRVLFIDNWRVLHGRECFTGYRQLCGCYLTRDDVLNTARLLGLQA* 20BR005 ENSG00000040199.18 ENSG00000185973.11 -/- -/- chr16:71655340 chrX:155492650 CDS CDS translocation 0 6 1 13 11 medium out-of-frame . Leucine_Rich_repeat(100%),Leucine_rich_repeat(100%),Protein_phosphatase_2C(29%)|Taurine_catabolism_dioxygenase_TauD__TfdA_family(100%) . . ENSG00000040199.18 ENSG00000185973.11 ENST00000568954.5 ENST00000334398.8 upstream downstream duplicates(1) ^(GCACAGGGGTATAGATCTAAAGAAGGGCAGAGGGGAGATCTGGAAACAGGCTGGCTGACTCCAAATTTGGCCCATTGGCAACAAAACTACTATCACTGCGAGAACGAAAAGAAAAACAAAACAAAGAAAAGAAAAGAAGTTAACTTTTAAAAGTTTTTTTCTGAATCAGCCTTGCAAATAAATCATAAACCGGGTCACAGGCCATATTACTGCTTGAAGCAGAGCACCGAATTCTGATAATTTTGCTCCAGGAGGAGGCAAGGGAATTAAAACATGGCTGGGAGGTGAGCGGACGTTTTGTACGAGGTTGGGTTGAATTTGCTTAAGAAGGTCGCACGCATCTCTGATAAGGAAGAGAAAAGGCCTTGCCAAG___AGAAATATGAAACGCAATGGGAGCAGAAATTGTTTGAATAGGAGAAGTAGGTTTGGTTCTCGAGAAAGAGACTGGCTAAGAGAAGATGTAAAGAGAGGCTGTGTTTACCTTTATGGAGCAGACACTACCACTGCCACTACAACCACCACCACCTCCTCTTCCTCTTCCTCCTCCTCCTCTTCCTCTGACTTACATCTCGTCCTTTGCACTGTAGAGACACCAGCATCAGAAATATGTGCTGGAGAGGGAAGAGAAAGTCTTTATTTACAGCTTCATGGAGACCTGGTCAG___GAGACTGGAACCTACTGAACGACCTCTTCAGATCGTTTATGATTACTTATCCAGGCTGGGATTTGATGATCCTGTGCGCATACAGGAGGAGGCTACAAATCCTGACCTCGGCTGTATGATTCGATTTTATGGTG___AAAAACCATGCCACATGGATCGTTTGGATCGAATCCTATTGTCTGGCATCTATAATGTACGCAAGGGAAAGACCCAGCTGCATAAGTGGGCTGAGCGCCTAGTTGTCCTCTGTGGTACCTGCCTTATCGTTTCCTCAGTGAAGGATTGTCAAACTGGAAAGATGCACATTTTGCCTCTGGTTGGTGGAAAG___ATAGAAGAAGTGAAGCGACGGCAATACTCCCTTGCTTTCAGCTCAGCAGGAGCCCAAGCTCAGACCTATCATGTCAGCTTCGAGACTTTGGCCGAGTACCAGCGATGGCAACGGCAAGCATCCAAG___GTGGTGTCCCAGCGAATCAGTACCGTGGATCTCTCGTGTTACAGCCTCGAGGAGGTTCCTGAGCATCTCTTCTATAGTCAAGATATTACCTACCTCAACTTGCGACACAACTTCATGCAGTTAGAAAGACCCGGAGGCCTCGATACACTCTACAA___ATTTTCTCAACTGAAGGGCCTGAACTTGTCCCATAATAAACTTGGGTTGTTTCCTATATTGTTATGCGAGATCTCTACCCTGACTGAGCTCAACCTTTCCTGTAATGGATTTCATGACCTACCAAGTCAAATTGGCAATCTGCTAAA___TCTTCAAACCCTCTGTCTTGATGGCAACTTTCTGACTACTTTACCTGAAGAATTGGGAAATCTACAACAGCTTTCCTCCTTGGGAATTTCCTTCAACAACTTTAGTCAAATTCCTGAGGTTTATGAGAAACTCACTATGTTAGATAGAGTGGTTATGGCAGGAAATTGCCTGGAAGTCCTGAACTTAGGGGTGCTGAATAGGATGAACCATATCAAGCATGTGGATTTAAG___GATGAACCATTTGAAAACCATGGTTATTGAAAATCTGGAGGGAAATAAACACATCACCCACGTGGATCTGCGGGACAACCGACTGACTGACTTGGATCTTAGCTCCTTATGCAGCTTGGAACAGCTGCACTGTGGGCGGAATCAGCTGAGGGAGCTAACACTCAGTGGCTTTTCCCTTCGGACCCTCTATGCCAGTTCCAACA___GGCTGACAGCAGTGAACGTCTATCCAGTACCCAGCCTGCTCACTTTCTTGGATCTCTCCCG___AAACCTGCTAGAGTGTGTCCCTGACTGGGCCTGTGAAGCAAAGAAGATAGAAGTATTAGATGTGAGCTATAATCTTCTCACAGAGGTTCCCGTGAG___AATTCTGAGTAGCTTGAGTCTTAGAAAACTGATGCTGGGACACAATCATGTGCAAAACCTTCCAACACTGGTAGAGCACATCCCCCTCGAGGTGCTGGATCTTCAGCATAATGCACTCACGAGGCTGCCAGACACCCTCTTCTCCAAGGCCTTAAA___TCTCAGATACTTGAATGCATCTGCAAATAGTCTGGAGTCTTTACCATCCGCCTGCACTGGAGAGGAGAGTTTGAGTATGCTGCAGCTGCTTTATCTGACCAACAATCTCCTGACGGATCAGTGCATACCTGTCCTGGTAGGGCACCTGCACCTGCGAATCTTGCACCTTGCAAACAATCAGTTACAGACCTTTCCTGCAAG___CAAACTAAATAAATTGGAGCAATTGGAGGAACTGAACCTAAGTGGCAACAAGCTTAAAACCATTCCCACAACCATAGCAAACTGTAAAAGGCTGCACACCCTTGTTGCACACTCCAACAACATCAGCATTTTCCCAGAAATACTGCAGTTGCCTCAGATCCAG___TTTGTAGACCTAAGTTGCAACGACTTGACAGAAATCCTGATTCCAGAGGCTTTGCCTGCTACATTACAAGACCTTGACCTGACTGGAAATACAAATCTGGTTCTGGAACACAAGACACTGGACATATTTAG___CCATATCACAACCCTGAAAATTGATCAGAAACCTTTGCCAACCACAGATTCTACAGTTACGTCAACCTTCTGGAGCCATGGACTGGCTGAGATGGCAGGGCAGAGAAATAA___GCTGTGTGTCTCAGCACTTGCTATGGATAGCTTTGCAGAGGGGGTGGGA)GCTGTGTATGGCATGTTTGATGGAGACCGAAATGAGGAGCTCCCGC|TCCAATGTGATATTCCTGAGAGAATATTGACTTATCGTCACTTCGTCTCTGGGACAAGTATTGAACATAGGGGAAGC...AACTATtACCGGGCTGTCATCAATACCGTTCCTTATGATGTCGTCCATCGCTGGTATACAGCACACCGGACTCTAACGATAGAGTTGAGGAGACCTGAGAATGAGTTTTGGGTCAAACTAAAGCCTGGCAGG___GTCCTATTTATAGACAAC MKRNGSRNCLNRRSRFGSRERDWLREDVKRGCVYLYGADTTTATTTTTTSSSSSSSSSSSDLHLVLCTVETPASEICAGEGRESLYLQLHGDLVRRLEPTERPLQIVYDYLSRLGFDDPVRIQEEATNPDLGCMIRFYGEKPCHMDRLDRILLSGIYNVRKGKTQLHKWAERLVVLCGTCLIVSSVKDCQTGKMHILPLVGGKIEEVKRRQYSLAFSSAGAQAQTYHVSFETLAEYQRWQRQASKVVSQRISTVDLSCYSLEEVPEHLFYSQDITYLNLRHNFMQLERPGGLDTLYKFSQLKGLNLSHNKLGLFPILLCEISTLTELNLSCNGFHDLPSQIGNLLNLQTLCLDGNFLTTLPEELGNLQQLSSLGISFNNFSQIPEVYEKLTMLDRVVMAGNCLEVLNLGVLNRMNHIKHVDLRMNHLKTMVIENLEGNKHITHVDLRDNRLTDLDLSSLCSLEQLHCGRNQLRELTLSGFSLRTLYASSNRLTAVNVYPVPSLLTFLDLSRNLLECVPDWACEAKKIEVLDVSYNLLTEVPVRILSSLSLRKLMLGHNHVQNLPTLVEHIPLEVLDLQHNALTRLPDTLFSKALNLRYLNASANSLESLPSACTGEESLSMLQLLYLTNNLLTDQCIPVLVGHLHLRILHLANNQLQTFPASKLNKLEQLEELNLSGNKLKTIPTTIANCKRLHTLVAHSNNISIFPEILQLPQIQFVDLSCNDLTEILIPEALPATLQDLDLTGNTNLVLEHKTLDIFSHITTLKIDQKPLPTTDSTVTSTFWSHGLAEMAGQRNKLCVSALAMDSFAEGVGAVYGMFDGDRNEELP|lqcdiperiltyrhfvsgtsiehrg 20BR005 ENSG00000145781.9 ENSG00000249167.2 +/+ +/+ chr5:116134178 chr5:116609100 CDS/splice-site exon/splice-site deletion 2 1 0 60 5 high out-of-frame . COMM_domain(100%)| . . ENSG00000145781.9 ENSG00000249167.2 ENST00000274458.9 ENST00000663913.1 downstream upstream . ^(AGACGGCGGCAGTGCGAGAAAGCCGAAGATGGCGGTCCCCGCGGCGCTGATCCTACGGGAGAGCCCCAG___CATGAAGAAAGCAGTGTCACTGATAAATGCAATAGATACAGGAAGATTTCCACGGTTGCTCACTCGGATTCTTCAAAAACTTCACCTGAAG___GCTGAGAGCAGTTTCAGTGAAGAAGAGGAAGAAAAACTTCAAGCGGCATTTTCTCTAGAGAAACAAGATCTTCACCTAGTTCTTGAAACAATATCATTTATTTTAGAACAG___GCAGTGTATCACAATGTGAAGCCAGCAGCTTTGCAGCAGCAATTAGAGAACATTCATCTTAGACAAGACAAAGCTGAA)GCATTTGTCAATACtTGGTCTTCTATGGGTCAAGAAACAGTTGAAAAGTTCCGGCAGAGAATTCTGGCTCCCTGTAAG___CTAGAGACtGTTGGATGGCAGCTTAACCTTCAGATGGCTCACTCTGCTCAAGCAAAACTAAAATCTCCTCAAGCTGTGTTACAACTCGGAGTGAACAATGAAGATTCAAAG|GTCTCACATGAAGGAAGATGTTCACCCTGAGGACAAGGCCCCTGCATGCATTCTCAGGACGTTCATGTTTTCTTTACCCATTCCCTTCCATTCAAAT(___ATAGGTTTGGCTAGTTATGCTGCAACAAGAAACAACTCTTCGGGGCTTGCCACAGCAACATTTTGTTTTTCACTCAATGTGAACTTATAGCGGAGGGGATGCTCTGCTAATCAAGACCACCCAGGCACCCAGCTGGCGGAAACACCATCTCAAAGCAGCTCACAGGGTCACAGAGCTGAGCGAAGGTGACATCACCAATCACAAACTCATTCTTTATGTTTTTGCCCTGGAATGACATATCATTTTTGTTCTCATTTCATGACCAAGATAAGTCACATAGGCCATGCCATGTGGGGACAAGGAAAAGCAATCTTAACATATGCTTTGAGAAGGAAAAATGGAGTATTTGTGAGTGTTCTAATTACCACTACAGATTTAAAAAGAGAAAAATCATTAGTAACAATGAGTTAGGATATACATCACTGTTCTACTTGTTAATTGCACCTCCTGCTAGCCAATAAAAGCTTAGTTGTGCCATCTCTTAAGCTGAGGAGGTTCTTCCTGGACCATATATTCTCCATGTTTACTACACGGAAAGGGGGCTTTTTGGATATTTTGCTGATGTTTACATATTGTTAAATTCTAGTTTAGCAAAATTTAACATTGTACATATATACCTATATATTGTAGCATATTGTATAGATAAGCACAGGGCCACTCTATAATAGGTTCAAAACCAAAAGATAAAAATAGTTCTCCCATAACACAATGAATAACCAGACTGAAAATTCCACTTAAATGGTTACCTAATATTAGTCTGTATAGCATCGTCTTCTTTCTAGAAATACCTACATATGTATATTTATAATGCTTAGGAAAAACCTGGAAGTAAATTCATTAAAATGCTAATTATATCTGGTTATAATAGTAAATAGTATATTAATTTTTATTTTACTTTTCTTTTATCCGCATTTTCTAAATTTTCAATGATGAATGTCCTAAATAATAAAATTATTATCTCATTGCATTTGTGGTCAGGTGAAATAACTGAAAGCAACTGTGATAGGCAGGATTCTGAGATAGCCCCAAGATCCCAAGATTCCTCCCCACAGTGTACCTTGTATATAAGGAACACACCTTGTATAATCCTCTCCTATTGAGTGTGGGCGGCACTGTGAATACCGTGGGATATTGCTCCTGTCACTATGTTATGTTATATGACAAAAGGGATTTTGTGGATGTAATTCAGGTCCAAAATAAGTTGAGTTTGAGTTAATCAAAAGAGATATTGCCTTGGGTGGGCCTGAGCTAATACAGAGACAAGCAGCAGCAGAGGCCATCCTCTACTGACCGTGAGGAAGTAAGCTGCCCAGTTGGTAGAGGAGGGGACCATGGTTCAGCATGAGAAGGTGGCATCTGGGAGGCCTGACTGACAGCCAGCAAGAAAACTGGAACCTCAGGAATATAGCTGCAAGGAAATGAATTCTACCAACAACTGGCGAGCTTGGAAGAGGGCTCTTCCTCTCAGGTGAGCTAGCAGCCCTAACCTGCTACTTGATTTTAGCCTGGCAAAGTCTTGAGCAGAGACCCCAGCTAACCCATGCCTGGACTGCTAACCCGACAGGATCAATAGATAATGAATTTGTGTTGTGTTAAGTCACTAAGTTTGTGGCCAGTTTGTTACACAGTAAAAACAAAACAAAACAAAACAAAATACACAGCAATGTCAACAACTGTCAGAAGATTGTTCTGCATAAAGTCAAGAAAAAGTGAGGATAAACACATATTTAAAAAAAATTTTTTTTCAAATGGAAATCAAAATTGCAGTTACCTTTGTGGGAAGTTTGTTATTGGGAAGGGGCAGGCGGGAGCCTGCTGGAAATGTTCTACATCTTGATCCAGGTAGTGATTGGTGCAGATATTAAAATTCATCGAGATGTATACTTAATGACCTGTGTGCC)$ MAVPAALILRESPSMKKAVSLINAIDTGRFPRLLTRILQKLHLKAESSFSEEEEEKLQAAFSLEKQDLHLVLETISFILEQAVYHNVKPAALQQQLENIHLRQDKAEAFVNTWSSMGQETVEKFRQRILAPCKLETVGWQLNLQMAHSAQAKLKSPQAVLQLGVNNEDSK|vshegrcsp* 20BR005 ENSG00000068878.15 ENSG00000115239.24 -/- -/- chr2:53888520 chr2:53819817 intron intron deletion/read-through 41 12 1 79 77 medium stop-codon . Proteasome-substrate-size_regulator__mid_region(100%)|Ankyrin_repeat(100%),Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%),SOCS_box(100%) . . ENSG00000068878.15 ENSG00000115239.24 ENST00000404125.6 . upstream downstream duplicates(4),inconsistently_clipped(2),mismappers(1),mismatches(1) ^(AGAGCGGCCGCTGCCGCCGCCAACGAACTGAGAGCCGCGTGGGGCCCAGCAGCACGCCGGCCAGGGAAGGGGGCCTAGCGATCGGTCCGAGGGCGACGGGCCGCCAGCGGCCGCAGGGCGACGAAGACGCGGAGGAGGCGGAGCCCGGAGAGGGGTGGGGGCCGGGGAGGGTTCGGGTGGGAGGGGGTGGGGGGGGTGTCCCTGGGCTCATGGAGCCGGCCGAGCGGGCGGGAGTCGGAGAGCCCCCGGAGCCGGGCGGGCGTCCCGAGCCGGGCCCGCGGGGCTTCGTCCCGCAGAAGGAGATCGTCTACAACAAGCTGCTGCCCTACGCGGAGCGGCTAGACGCCGAGTCCGACTTGCAGCTGGCCCAGATCAAATGCAACCTGGGCCGGGCCGTGCAGCTCCAAGAGCTGTGGCCCGGGGGCCTCTTCTGGACCAGGAAACTCTCCAC___ATATATTCGACTTTATGGGAGAAAATTTAGCAAAGAAGATCATGTTCTTTTTATTAAGTTATTGTATGAGCTGGTATCAATTCCAAAACTGGAAATCAGCATGATGCAGGGATTTGCCCGCCTTTTGATCAACTTGTTAAA___GAAAAAGGAACTTCTTTCAAGAGCTGATTTGGAGTTACCCTGGAGACCACTTTATGACATGGTAGAAAGAATATTATATTCCAAGACAGAGCACCTAGGATTAAATTGGTTTCCTAA___TTCTGTAGAAAATATTCTCAAAACACTCGTGAAAAGCTGCCGACC___ATATTTTCCAGCAGATGCCACCGCTGAGATGCTAGAAGAATGGCGACCTTTAATGTGCCCTTTTGATGTAACCATGCAAAAGGCCATCACTTATTTTGAAATATTTCTTCCTACCTCCCTTCCTCCAGAACTTCATCATAAAGGTTTTAA___ACTTTGGTTTGATGAATTAATTGGCCTTTGGGTTTCAGTGCAAAATCTCCCACAATGGGAGGGG___CAACTAGTAAATCTCTTTGCTCGATTGGCTACAGATAATATAGGGTACATAGATTGGGATCCATATGTACCAAAG___ATATTTACAAGAATTCTGAGAAGCTTGAACCTCCCAGTGGGAAGCAGTCAAGTGTTAGTCCCAAGATTTTTAACAAATGCTTATGATATAGGACATGCTGTAATATGGATCACCGCCATGATG___GGTGGACCAAGTAAGCTAGTGCAAAAACACTTAGCTGGTTTGTTTAACAGCATCACATCTTTTTACCATCCTTCAAATAATGGGCGCTGGCTG___AACAAGTTAATGAAACTACTTCAGCGGTTGCCAAACAGTGTTGTTAGAAGATTGCATCGTGAAAGATACAAGAAGCCCTCTTGGTTAACTCCTGTGCCTGATAGCCACAAGCTTACTGATCAAGATGTTACAGACTTTGTACAATGCATTATTCAGCCTGTCCTCTTGGCTATGTTTAGCAAAACCGGTAGTCTAGAAGCAGCCCAGGCTTTGCAGAATCTTGCACTCATGAGACCTGAATTGGTAATACCCCCTGTACTTGAAAG___AACATATCCTGCATTAGAGACATTAACAGAACCTCACCAGCTCACAGCTACTTTAAGTTGTGTAATTGGAGTAGCCCGCAGTTTGGTATCAGGAGGCAGATGGTTTCCTGAAGGTCCTACACATATGCTACCTCTGTTGATGAGAGCATTGCCTGGGGTGGATCCAAATGACTTTAGTAAATGCATG___ATCACATTCCAGTTCATAGCAACATTTTCTACTCTGGTGCCTTTAGTAGATTGTTCATCTGTACTACAAGAAAGAAATGACCTCACAGAA___GTGGAACGAGAACTTTGTTCAGCCACAGCTGAATTTGAGGATTTCGTCTTACAGTTTATGGACAG___ATGTTTTGGACTTATAGAAAGTAGCACATTGGAGCAAACAAGAGAAGAGACAGAAACTGAGAAAATGACACACTTGGAGAGTTTGGTCGAATTAGGTCTGTCTTCTACGTTTAGTACAATCCTCACCCAATGTTCCAAAGAAATATTTATG___GTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAG___TGCTGCCCAGAAGAATCTTTGAAGCTCTTTGTTCCCCACTGCTGCAGTGTTATAACTCAGCTTACAATGA___ATGATGATGTATTAAATGATGAAGAGCTAGACAAGGAATTACTATGGAATCTTCAACTTTTGTCTGAG___ATTACTCGAGTGGATGGAAGGAAGTTGCTTCTTTATAGGGAGCAGCTTGTAAAGATTCTCCAAAGAACCCTACATTTAACCTGTAAGCAGGGTTACACTCTGTCTTGTAACCTTTTGCATCATCTTCTCCGTTCTACCACACTTATCTACCCTACAGAATACTGCAGTGTGCCAGGTGGCTTTGACAAGCCTCCTTCTGAATACTTTCCTATCAAG___GACTGGGGCAAACCCGGGGACTTGTGGAATCTGGGAATCCAGTGGCATGTTCCTTCTTCAGAAGAAGTGTCTTTTGCCTTTTATCTTTTGGACTCCTTTCTTCAGCCTGAGCTCGTCAAACTCCAGCATTGTGGGGATGGAAAACTTGAAATGTCTAG___AGATGATATTCTACAGAGTCTGACTATAGTGCACAACTGTTTAATTGGCTCTGGAAACCTCCTACCTCCGTTGAAAGGAGAGCCAGTTACTAACTT___AGTACCAAGTATGGTGTCCTTGGAAGAGACAAAGTTGTATACTGGACTTGAATATG___ATCTGTCTCGAGAGAACCACCGAGAAGTAATTGCTACAGTTATAAGGAAACTTCTTA___ACCACATACTTGATAATTCAGAAGATGATACTAAGTCATTGTTTCTTATTATAAAG___ATTATTGGAGACCTTTTACAATTCCAAGGATCTCACAAGCATGAATTTGACTCCCGATGGAAAAGCTTCAACTTAGTAAAGAAATCAATGGAAAATCGG___CTCCATGGGAAAAAACAACATATCAGAGCACTGTTGATTGATAGAGTAATGTTACAGCATGAG___CTACGGACACTAACTGTTGAGGGTTGTGAATACAAAAAGATACATCAAGATATGATCAGAGATCTTCTTCGTTTATCTACAAGTTCATACAGTCAG___GTGAGAAATAAGGCTCAGCAAACATTTTTTGCTGCCTTGGGAGCATATAACTTCTGTTGCAGAGATATCATTCCCTTGGTTTTGGAGTTCTTAAGGCCTGATAGACAAGGTGTTACACAGCAACAATTCAAG___GGTGCCTTGTACTGTCTCCTTGGAAATCACAGTGGTGTGTGCTTGGCAAACCTTCATGATTGGGACTGTATTGTACAGACGTGGCCAGCGATTGTTTCTTCAGGGCTTAGCCAAGCAATGTCCCTGGAAAAGCCATCAATAGTGAGATTGTTTGATGATCTTGCAGAAAAGATTCATAGGCAGTATGAAACAATTGGCTTGGACTTCACA___ATTCCAAAGTCATGTGTTGAAATAGCGGAATTACTTCAACAGTCAAAAAACCCCTCTATCAACCAGATATTGCTTAGCCCAGAAAAAATTAAGGAAGGAATTAAACGCCAACAGGAAAAGAATGCCGATGCCCTAAG___GAACTATGAAAATTTGGTAGACACCTTGCTAGATGGTGTGGAGCAAAGAAACCT___GCCCTGGAAATTTGAACATATAGGCATTGGGCTTCTGTCTCTACTGCTGAGAGATGACCGAGTGTTGCCTCTTCGTGCCATACGGTTTTTTGTTGAGAATCTCAACCATGATGCAATTGTAGTTCGAAAG___ATGGCTATCTCAGCTGTTGCTGGTATCCTTAAACAGCTAAAAAGAACCCACAAAAAGCTGACCATTAACCCCTGTGAAATCA___GTGGATGCCCTAAACCCACCCAAATTATTGCTGGTGATAGGCCTGATAATCATTGGTTGCATTATGACAGCAAAACTATACCAAGAACTAAAAAAGAATGGGAGTCAAGTTGCTTTGTGGAAAAAACTCACTGGGGATACTACACCTGGCCAAA___GAATATGGTTGTTTATGCTGGTGTGGAAGAGCAGCCTAAGCTTGGCAGAAGCAGGGAGGATATGACAGAG___GCAGAACAGATTATATTTGATCATTTTTCTGATCCTAAATTTGTTGAGCAGTTAATTACTTTTCTATCATTAGAAGACAGAAAAGGAAAAGATAAGTTTAATCCACGACGTTTTTGCCTCTTTAAG___GGTATATTCAGGAATTTTGATGATGCCTTCCTGCCAGTTCTGAAGCCCCATTTAGAACATTTGGTTGCAGATTCACATGAAAGCACCCAGCGATGTGTTGCAGAAATTATAGCTGGTTTAATCAGAGGTTCTAAGCACTGGACATTTGAAAAG___GTGGAGAAGCTTTGGGAGCTTCTGTGCCCTCTGCTTAGAACAGCACTGTCCAATATTACCGTAGAAA)CTTATAATGACTGGGGAGCTTGTATAGCAACATCCTGT___GAAAGCAGAGATCCCCGGAAACTTCACTGGCTTTTTGAACTGCTGcTGGAATCACCATTGAGTGGTGAAGGAGGATCCTTTGTAGATGCATGGTAAATTTTTTTAAAAAACCTATGAGGTTAACACGAAAGGTTTTGTGTTAACTTATGTATAAATGGAAATGAATGGTCTATACTTGTAAAGTCTAGATGAAGTAATTACTTTCTTCTGGAAGGTGATGTGATCTGGTTCCATATAACATGTGATACTTAATAAGAGTTATTTATTAGTTGGACAAGTAAGTGAGATGTAGG|AACTTTCAGCCCCACCTACTGACCTCGGGGAAAGAAAGGGGGAGGGGGATCTGAAAATCAAACTCTATAAACTCTCTTGGGATCTGATGAGCTTCTAGGTTCCCGAACCTAGTGCTGGGAGAGTGGCACGCCCAGAGGAAGCCTAGAAGGTCTGCAGGCACCCCCTTGCCTCCCACCCCCGCCATACCTTGCCTTATGCAGCTCTTCCATCTGGCCATTCCTGAGTTGTATC . 20BR005 ENSG00000138376.11 ENSG00000223685.6 -/- -/- chr2:214792297 chr13:38089660 CDS/splice-site exon/splice-site translocation 0 3 0 13 7 medium out-of-frame . zf-RING_of_BARD1-type_protein(100%)| . . ENSG00000138376.11 ENSG00000223685.6 ENST00000260947.9 ENST00000451826.2 upstream downstream duplicates(1),mismappers(1) ^(AGACGCGGGAAGAGCTTGGCCGGTTTCGAGTCGCTGGCCTGCAGCTTCCCTGTGGTTTCCCGAGGCTTCCTTGCTTCCCGCTCTGCGAGGAGCCTTTCATCCGAAGGCGGGACGATGCCGGATAATCGGCAGCCGAGGAACCGGCAGCCGAGGATCCGCTCCGGGAACGAGCCTCGTTCCGCGCCCGCCATGGAACCGGATGGTCGCGGTGCCTGGGCCCACAGTCGCGCCGCGCTCGACCGCCTGGAGAAGCTGCTGCGCTGCTCGCGTTG___TACTAACATTCTGAGAGAGCCTGTGTGTTTAGGAGGATGTGAGCACATCTTCTGTAG___TAATT)GTGTAAGTGACTGCATTGGAACTGGATGTCCAGTGTGTTACACCCCGGCCTGGATACAAGACTTGAAGATAAATAGACAACTGGACAGCATGATTCAACTTTGTAGTAAGCTTCGAAATTTGCTACATGACAATGAGCTGTCAG|GAGGTTCATGACAGGATGAAAAGAAACCTGAGAAGCACTCTTGAAGAGAGGTTTCTGAATAACTTTCGAATCATATCATTTGGACTGG(___ATGACAGAAACTTCATCTGCATTGGCTTCGGCAAAGCAGAAATTTATTAGCTTACAAG___GCCCCATCTTGTCCATGCACCTGTCTGCTTCCTTGGCTTCAGAGCATTGCCTCCAAGTCCTCTACAGCACAACTTTCCCTTCAGCATCCAACCTTATGATGTACTGGGATATTGTGTTGCCCCTCTCCCCTCTCTACCTGTGCTGGGCTTTAAGGCTGACACACCTATAAACCCCAGGAGTGGAGGGAAG___GGAGAGTGGATTGTCATTGAGACATATGTTCTGCTTACGTGGAGAGTAACTTGAGCAACGTTACCCACCTCTATGTGGAAACACAGGTTTATTTAGTATGTTGAAATTCCAGACATAACTATCTGTTCAGTAGCAGTGGTTCCTATAAGACAACAACTTCACTGTTCATTTTGTGCTAGTAGAATGGAACTTCACGGACCTTGGAGAAGCATACTCCAAACACTACAAATGATGGTTATACTTTGGAGAGATGCTAAGACAGCAGATGCTAAAATCCAGATACCTTTTGTGAATATGAGGCATATCTACTGGGAACACATCATAATAATCTGTTGAGGTAAACATTAAAGATGGTGGCAATAAGCAGTTGGAGAAAAAGAAAAATATCAACATGCAAGGCA)$ MPDNRQPRNRQPRIRSGNEPRSAPAMEPDGRGAWAHSRAALDRLEKLLRCSRCTNILREPVCLGGCEHIFCSNCVSDCIGTGCPVCYTPAWIQDLKINRQLDSMIQLCSKLRNLLHDNELS|ggs* 20BR005 ENSG00000196236.13 ENSG00000100065.15 +/+ -/- chr22:40869115 chr22:37497178 CDS/splice-site CDS/splice-site inversion 3 0 0 44 7 medium out-of-frame . . . . ENSG00000196236.13 ENSG00000100065.15 ENST00000357137.9 ENST00000403299.5 downstream downstream . ^(CTCTTTCTCTTCCCGACGCGTGAGTTAGGCCGTAATGCCTTGGCTGCTCT)CAGCCCCCAAGCTGGTTCCCGCTGTAGCAAACGTCCGCGGCCTCTCAG___GATGTATGTTGTGTTCACAGCGAAGGTACTCCCTTCAGCCTGTCCCgGAAAGGAGGATTCCAAACCGATACTTAGGCCAGCCCAGCCCCTTTACACACCCACACCTCCTCAGACCAG|GTCTCTGGCTATTCGGGTGTCTGGCCGGAGCCCCCCAGGGGGCCCAGAGCCGCAGGACAAGGGAC(CAGATGGACTGTCGTTTTATGGGGACAGATGGTCTGGGGCTGTGGTGCGCAGGGTGCTGTCTGGGCCTGGGTCCGCCAGGATGGAACCAAGAGAG___CAAAGGGTGGAAGCTGCTGGTCTGGAGGGGGCGTGCCTGGAAGCCGAGGCCCAGCAGAGAACCTTGCTCTGGAATCAGGGGTCCACACTCCCCTCCCTGATGGACTCGAAGG___CCTGCCAGTCCTTCCACGAGGCCCTAGAAGCCTGGGCAAAGGGACCAGGTGCCGAGCCCTTCTACATTCGTGCCAACCTCACCTTGCCTGAGAGGGCAGATCCCCATGCCCTTTGCGTGAAAGCCCAAGAGATCCTTCGACTGGTGGACTCGGCATACAAGCGGAGGCAGGAATGGTTCTGCACCCGGGTTGACCCCCTCACTCTGCGGGACCTGGACCGGGGCACCGTGCCCAATTATCAGAG___AGCCCAGCAGCTCCTAGAAGTTCAGGAGAAATGCCTGCCCTCCAGCCGGCACCGAGGCCCCCGCAGTAAT___CTGAAGAAGAGAGCCCTGGACCAGCTGCGGCTGGTGAGGCCCAAGCCCGTGGGGGCGCCTGCAGGGGACTCCCCGGATCAGCTGCTGCTGGAGCCCTGTGCAG___AGCCGGAGCGGAGCCTCAGACCCTACAGTTTGGTGCGGCCGCTACTGGTGTCTGCCCTGCGGCCCGTGGTGCTGTTGCCTGAGTGCCTGGCGCCCCGGCTCATCCGTAACCTGCTAGACCTGCCCAGCTCCCGGCTGGACTTCCAAGTGTGCCCAGCGG___AAAGCCTCTCTGGGGAGGAACTGTGCCCATCCTCAGCGCCTGGAGCCCCCAAGGCTCAGCCTGCCACCCCTGGGCTAGGCAGCAGGATCCGGGCCATCCAGGAGTCTGTTGGGAAG___AAGCACTGCCTGCTGGAGCTGGGTGCTCGGGGTGTGCGGGAGCTGGTGCAGAACGAGATCTACCCCATCGTCATCCACGTGGAGGTGACTGAGAAGAATGTCCGGGAAGTCAG___GGGTCTGCTGGGCCGGCCGGGCTGGCGGGACTCAGAGCTGCTGCGGCAGTGCCGTGGCTCAGAGCAGGTGCTCTGGGGGCTGCCCTGCTCCTGGGTGCAGGTGCCCGCCCATGAGTGGGGACACGCAGAGGAGCTGGCCAAGGTGGTGCGCGGCCGCATCCTGCAGGAGCAGGCCCGCCTCGTGTGGGTGGAGTGCGGCAGCAGCAGAGGCTGCCCCAGCAGCAGTGAGGCCTGAGGCTCATCTGATACCTGCACCTTCTCCCCAAGCCAGCGTGGACCCTGGTGTCTATGGTGAAGCTGGGCCCTCCCACCCTGAGCCTTCCTAGACCCTTGGACTCTCAGATGCAGGGCCCTTGGCTCTGGCCTCTCACCCCCAAGGCTGTCTCTGGCCCTGCCGAGCCTATGGGAGTCCCGGGACAGAGTGCCCACTCCCCTCTACTTGCTGCTCTGGGCCTCCCCACCTTTCCTGGGGTCTCCACATTCCCACTAGTGGGTCTTATGTGTGTCTGTGTCTTCTCCTTAAACACTCGCCCTGGAGTCTGTTCTCACACCTGTGCGCAGGTTTGCACACTCAAGTTCTCATGGGCAGGCTCAGGTCTGTCCCGCTGCCCTGGGCACGAGGTCTCCTGAGGACCTGGGCCTGTTCTGCTCCTAGGAGACCTGAGCCCGTTACCGCGTGACTCCCACCATCCAGCTCGCGCTCCTCGTGGATTCAGCCATGCATGGACTGGGGTGTTCCCTGGCCCATGGTCACCTGTGCCCCTCGTGTCTCCTCACATGGGTGTCTGTGGTTCTCTCCTGTGTAAATGTCACGCCCCACCCCTGTTTCATGTGGGCACTAACACGTGTGCGTTCCTGGCGGGCACACTCAGGACCGTGCCTCACAGGGCCCACTCCCTGCCTATGCCTCCCTCTTGGGGGGCCGAGGAGGGCGGCTGCTCTGTCATGAGAATGTACGGCCCGTGGATGATTAACGGGCCTTTTTCACTTAGAAGCTGCACATTATGGAGCATTAAACACTTTTGTCATAGA)$ MPWLLSAPKLVPAVANVRGLSGCMLCSQRRYSLQPVPERRIPNRYLGQPSPFTHPHLLRP|glwlfgclagapqgaqsrrtrdqmdcrfmgtdglglwcagcclglgppgwnqeskgwkllvwrgrawkprpsrepcsgirgphspp* 20BR005 ENSG00000207304.1 ENSG00000115839.18 -/- +/+ chr11:93732257 chr2:135137348 exon intron translocation 2 1 0 366 33 medium . . . . . ENSG00000207304.1 ENSG00000115839.18 ENST00000384574.1 . upstream upstream . ^(TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCATCGTTGGTTTTCT)TGGCTTTGTGCTTGTTAAACCTGGTATTTCTACTGATACAGTATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCAC|CTACAGTAAAAAGGACCCTAAAGTAAATTGGTTGAAGAAaTTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCATATTAAAAcGAGATGACAGAAGCCAAAgTAA . 20BR005 ENSG00000207304.1 ENSG00000121988.18 -/- -/+ chr11:93732257 chr2:135137348 exon intron translocation/5'-5' 2 1 0 366 33 medium . . . . . ENSG00000207304.1 ENSG00000121988.18 ENST00000384574.1 . upstream upstream . ^(TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCATCGTTGGTTTTCT)TGGCTTTGTGCTTGTTAAACCTGGTATTTCTACTGATACAGTATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCAC|CTACAGTAAAAAGGACCCTAAAGTAAATTGGTTGAAGAAaTTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCATATTAAAAcGAGATGACAGAAGCCAAAgTAA . 20BR005 ENSG00000138802.11 ENSG00000249965.2(935),ENSG00000005059.16(3579) +/+ ./+ chr4:109533685 chr4:109556667 CDS/splice-site intergenic deletion/read-through 1 2 0 149 8 medium out-of-frame . Gelsolin_repeat(100%),Sec23/Sec24_beta-sandwich_domain(100%),Sec23/Sec24_helical_domain(100%),Sec23/Sec24_trunk_domain(100%),Sec23/Sec24_zinc_finger(100%)| . . ENSG00000138802.11 . ENST00000265175.5 . downstream upstream . ^(CCCTTCCCTCCGCCCACCTCCCTGAAGCGGAGCCGCCGTCGCCACCAGCGCCGTCATGTCGGCCCCCGCCGGGTCCTCTCACCCGGCCGCCAGCGCCCGGATCCCGCCCAAGTTCGGCGGAGCGGCCGTCTCAGGAGCCGCAGCGCCCGCGGGCCCGGGTGCGGGCCCGGCGCCGCACCAGCAGAACG___GTCCAGCCCAGAATCAAATGCAGGTTCCATCTGGATATGGATTGCATCATCAAAACTATATTGCTCCCTCAGGACATTACTCTCAAGGACCTGGGAAAATGACCTCATTGCCATTGGATACCCAGTGTGGTGATTACTACTCTGCTCTCTATACAGTACCAACACAAAATGTGACTCCTAACACAGTGAACCAGCAACCAGGAGCACAGCAGTTGTACAGCAGGGGTCCTCCTGCCCCTCATATTGTGGGATCCACTCTAGGATCTTTCCAAGGTGCTGCATCGTCAGCATCCCATTTGCATACGAGTGCCTCCCAACCATACTCCTCTTTTGTGAATCACTACAATAGTCCAGCCATGTACTCTGCCAGCTCTTCTGTTGCGTCTCAGGGATTTCCCTCTACTTGTGGTCATTATGCTATGTCAACTGTTTCTAATGCCGCGTATCCTAGTGTTTCATATCCCTCTCTGCCTGCTGGTGATACATATGGGCAAATGTTTACCTCACAGAATGCTCCGACTGTTAGGCCAGTTAAAGATAATTCATTCTCTGGTCAAAATACAGCTATCAGCCATCCATCGCCACTTCCACCTCTACCATCACAACAGCACCACCAGCAGCAAAGTCTTTCAGGATACAGTACTCTAACGTGGTCATCTCCAGGCCTTCCATCGACTCAAGACAATCTCATCCGAAACCACACAGGATCCCTGGCTGTAGCGAACAACAACCCAACCATTACTG___TTGCAGATTCTTTATCCTGTCCTGTTATGCAAAATGTTCAGCCTCCCAAGTCCAGCCCAGTGGTATCCACTGTTTTATCAGGATCCTCAGGATCCTCATCAACAAGAACACCTCCCACTGCAAATCACCCAGTTGAGCCTGTGACCTCAGTTACACAGCCATCAGAGCTATTACAACAAAAAG___GCGTGCAGTATGGTGAATATGTTAATAACCAAGCTAGCTCCGCACCAACTCCCTTGTCATCAACTTCCGATGATGAGGAAGAGGAGGAGGAGGATGAGGAAGCAG___GTGTTGACAGCTCTTCTACCACAAGCAGTGCTTCTCCAATGCCCAACAGTTATGATGCCCTGGAAGGAGGCAGTTACCCAG___ATATGCTTTCTTCATCAGCAAGCAGTCCTGCTCCTGATCCCGCCCCTGAACCTGATCCTGCTTCTGCTCCAGCTCCAGCTTCAGCTCCAGCTCCTGTCGTCCCTCAGCCTTCAAAAATGGCTAAGCCTTTTGGCTATGGCTATCCAACACTTCAGCCTGGTTATCAGAATGCTACAGCACCACTTATTTCTGGAGTACAGCCCAGTAACCCGGTATATTCTGGATTCCAGCAGTATCCTCAA___CAGTATCCTGGTGTGAACCAGCTATCCTCCAGTATAGGAGGATTGAGTCTTCAGAGTTCTCCACAACCAGAAAGCCTGAGACCTGTAAACCTTACTCAGGAGAGGAATATTTTACCTATGACTCCTGTTTGGGCTCCTGTACCTAACTTGAATGCAGACCTCAAAAAATTAAACTGTAGCCCAGA___TTCATTTCGGTGTACTTTGACAAATATTCCACAGACACAGGCTTTACTGAATAAAGCTAAGCTTCCTTTAGGATTGTTGTTACATCCCTTCAGAGACCTAACG___CAATTACCAGTGATAACATCAAATACCATTGTGAGGTGCCGATCCTGTCGAACGTATATTAACCCCTTTGTATCCTTCATTGATCAACGTAGATGGAAATGCAATTTGTGCTATAGAGTAAACGATG___TTCCTGAAGAATTTATGTATAACCCCCTTACCCGATCTTATGGAGAGCCTCATAAACGACCAGAAGTTCAGAATTCAACTGTGGAGTTCATTGCTTCTTCAGATTACATG___CTGCGTCCTCCTCAACCTGCAGTTTACTTGTTTGTTTTAGATGTGTCTCATAATGCAGTGGAAGCTGGATATTTGACAATTTTGTGCCAGTCACTCCTAGAAAATCTAGACAA___GCTTCCTGGAGATTCACGAACAAGAATAGGATTCATGACCTTTGATAGCACTATTCATTTCTACAATTTACAAGAAGGATTATCACAGCCTCAAATGTTGATTGTGTCTGATATAGATG___ATGTTTTTCTACCTACACCGGATAGTTTACTTGTGAATCTATATGAAAGTAAAGAG___CTTATAAAAGACTTACTGAATGCATTACCAAACATGTTCACCAATACAAGAGAAACACACAGTGCCCTTGGTCCTGCACTTCAGGCTGCCTTTAAATTAATGTCTCCAACAGGTGGCCGTGTGTCTGTATTTCAGACACAGTTACCTTCCTTGGGTGCAGGACTTCTGCAATCCAGAGAAGATCCTAATCAGAGATCAAGTACAAAG___GTGGTACAACATCTTGGCCCTGCAACTGATTTTTATAAGAAACTTGCATTAGATTGCTCGGGACAGCAAACTGCAGTGGATTTGTTCCTTTTAAGTTCACAGTATTCTGATCTTGCTTCTCTAG___CTTGCATGTCCAAGTATTCTGCAGGGTGCATCTATTATTATCCATCATTCCACTATACTCACAATCCTTCACAAGCAGAAAAGTTACAAAAAGACCTAAAACGGTATCTCACAAGAAAAATTGGGTTTGAAGCTGTTATGAGAATAAGGTGTACTAAAG___GTCTTTCAATGCACACTTTTCACGGTAACTTCTTTGTCCGTTCTACTGATTTGTTATCCCTTGCCAACATCAATCCTGATGCTGGATTTGCGGTGCAGTTGTCAATTGAAGAAAGTTTAACAGATACTTCCTTAGTATGTTTTCAAACAGCCCTATTATATACATCAAGCAAAG___GTGAGCGGAGAATTAGAGTACATACACTTTGTTTGCCAGTGGTAAGTTCACTAGCAGATGTATATGCGGGAGTGGATGTACAAGCTGCCATCTGCCTTCTGGCAAACATGG___CTGTGGATCGGTCCGTTTCATCAAGTCTGTCAGATGCAAGAGATGCCTTAGTGAATGCTGTAGTGGACTCATTGTCTGCATATGGCTCAACTGTCTCAAATTTACAGCACTCTGCATTGATGGCGCCCAGCTCCCTCAAGTTGTTTCCTCTCTATGTTTTGGCCCTTCTCAAACAG___AAAGCATTTAGAACGGGTACAAGCACACGGCTGGATGATCGTGTATATGCCATGTGTCAGATAAAGTCTCAGCCACTTGTTCATCTAATGAAAATGATTCAT)CCCAACTTATACAGGATAGACAGATTGACAGATGAG___GGTGCAGTACATcTTAATGACAGGATTGTACCACAGCCACCTCTTCAAAAATTGTCTGCAGAGAAGCTGACAAGAGAAGGTGCTTTCCTTATGGACTGTGGCTCT___GTTTTTTACATTTtGGTTGGGAAAGGCTGTGACAATAACTTCATAGAGGATGTGCTTGGATATACTAATTTTGCATCAATACCACAGAAAATG|AATGCAGCTGAAGACCTGGTATGTAGAGGCAATGTGAAGAGCGGTAGCAGAAGACCGACATCTATGGAATGATTCACAGCCTCTCAAGTTATAAGGATGGAGACCTGCTTCATGAAGAAGTTGG MSAPAGSSHPAASARIPPKFGGAAVSGAAAPAGPGAGPAPHQQNGPAQNQMQVPSGYGLHHQNYIAPSGHYSQGPGKMTSLPLDTQCGDYYSALYTVPTQNVTPNTVNQQPGAQQLYSRGPPAPHIVGSTLGSFQGAASSASHLHTSASQPYSSFVNHYNSPAMYSASSSVASQGFPSTCGHYAMSTVSNAAYPSVSYPSLPAGDTYGQMFTSQNAPTVRPVKDNSFSGQNTAISHPSPLPPLPSQQHHQQQSLSGYSTLTWSSPGLPSTQDNLIRNHTGSLAVANNNPTITVADSLSCPVMQNVQPPKSSPVVSTVLSGSSGSSSTRTPPTANHPVEPVTSVTQPSELLQQKGVQYGEYVNNQASSAPTPLSSTSDDEEEEEEDEEAGVDSSSTTSSASPMPNSYDALEGGSYPDMLSSSASSPAPDPAPEPDPASAPAPASAPAPVVPQPSKMAKPFGYGYPTLQPGYQNATAPLISGVQPSNPVYSGFQQYPQQYPGVNQLSSSIGGLSLQSSPQPESLRPVNLTQERNILPMTPVWAPVPNLNADLKKLNCSPDSFRCTLTNIPQTQALLNKAKLPLGLLLHPFRDLTQLPVITSNTIVRCRSCRTYINPFVSFIDQRRWKCNLCYRVNDVPEEFMYNPLTRSYGEPHKRPEVQNSTVEFIASSDYMLRPPQPAVYLFVLDVSHNAVEAGYLTILCQSLLENLDKLPGDSRTRIGFMTFDSTIHFYNLQEGLSQPQMLIVSDIDDVFLPTPDSLLVNLYESKELIKDLLNALPNMFTNTRETHSALGPALQAAFKLMSPTGGRVSVFQTQLPSLGAGLLQSREDPNQRSSTKVVQHLGPATDFYKKLALDCSGQQTAVDLFLLSSQYSDLASLACMSKYSAGCIYYYPSFHYTHNPSQAEKLQKDLKRYLTRKIGFEAVMRIRCTKGLSMHTFHGNFFVRSTDLLSLANINPDAGFAVQLSIEESLTDTSLVCFQTALLYTSSKGERRIRVHTLCLPVVSSLADVYAGVDVQAAICLLANMAVDRSVSSSLSDARDALVNAVVDSLSAYGSTVSNLQHSALMAPSSLKLFPLYVLALLKQKAFRTGTSTRLDDRVYAMCQIKSQPLVHLMKMIHPNLYRIDRLTDEGAVHlNDRIVPQPPLQKLSAEKLTREGAFLMDCGSVFYIlVGKGCDNNFIEDVLGYTNFASIPQKM|naaedlvcrgnvksgsrrptsme* 20BR005 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 1 2 0 24 3 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAA)AAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTGGCCACATTGAGGAATCGTGTAAAATGAATGTATGTGCTCGTAAGTGAAAT...___CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCA MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnpsghieesckmnvcark* 20BR006 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 27 25 1 75 81 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520734.5 upstream downstream duplicates(5),mismappers(2) GTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTG___TTTTACTAAAGGGAGGAAAAAGAGAGG(AAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 20BR006 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 9 11 0 35 29 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2),mismatches(2) GGAAATCCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCCTCCACGTTTGAACTCCTCTGCTG(AGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 20BR006 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 11 6 0 267 51 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(5) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGG)CAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 20BR006 ENSG00000104419.16(15493),ENSG00000243537.1(12918) ENSG00000104419.16 ./- -/- chr8:133313079 chr8:133284329 intergenic 5'UTR/splice-site deletion/read-through 7 6 0 26 310 high . . |Ndr_family(100%) . . . ENSG00000104419.16 . ENST00000414097.6 upstream downstream duplicates(5),mismatches(6) TTTATATTAAGTTAACTAGCTTTAGCATTCAGGACTTTAAGAACAGAGCAATTTTTGTTCTTATTGGAGAGTTGTGGCTGAATATTGGAGGCAATCAAGAAAATTCAGGATCTACGTCCACTCTACAG|GCAGGTGACAGCAGGGACATGTCTCGGGAGATGCAGGATGTAGACCTCGCTGAGGTGAAGCCTTTGGTGGAGAAAGGGGAG___ACCATCACCGGCC(TCCTGCAAGAGTTTGATGTCCAG___GAGCAGGACATCGAGACTTTACATGGCTCTGTTCACGTCACGCTGTGTGGGACTCCCAAGGGAAACCGGCCTGTCATCCTCACCTACCATGACATCGGCATGAACC___ACAAAACCTGCTACAACCCCCTCTTCAACTACGAGGACATGCAGGAGATCACCCAGCACTTTGCCGTCTGCCACGTGGACGCCCCTGGCCAGCAGGACGGCGCAGCCTCCTTCCCCGCAGG___GTACATGTACCCCTCCATGGATCAGCTGGCTGAAATGCTTCCTGGAGTCCTTCAACAGTTTGG___GCTGAAAAGCATTATTGGCATGGGAACAGGAGCAGGCGCCTACATCCTAACTCGATTTGCT___CTAAACAACCCTGAGATGGTGGAGGGCCTTGTCCTTATCAACGTGAACCCTTGTGCGGAAGGCTGGATGGACTGGGCCGCCTCCAAG___ATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAG___GAAGAAATGCAGAGTAACGTGGAAGTGGTCCACACCTACCGCCAGCACATTGTGAATGACATGAACCCCGGCAACCTGCACCTGTTCATCAATGCCTACAACAG___CCGGCGCGACCTGGAGATTGAGCGACCAATGCCGGGAACCCACACAGTCACCCTGCA___GTGCCCTGCTCTGTTGGTGGTTGGGGACAGCTCGCCTGCAGTGGATGCCGTG___GTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAG___ATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAG___CCGGCCAAGCTCGCTGAGGCCTTCAAGTACTTCGTGCAGGGCATGGGATACA___TGCCCTCGGCTAGCATGACCCGCCTGATGCGGTCCCGCACAGCCTCTGGTTCCAGCGTCACTTCTCTGGATGGCACCCGCAGCCGCTCCCACACCAGCGAGGGCACCCGAAGCCGCTCCCACACCAGCGAGGGCACCCGCAGCCGCTCGCACACCAGCGAGGGGGCCCACCTGGACATCACCCCCAACTCGGGTGCTGCTGGGAACAGCGCCGGGCCCAAGTCCATGGAGGTCTCCTGCTAGGCGGCCTGCCCAGCTGCCGCCCCCGGACTCTGATCTCTGTAGTGGCCCCCTCCTCCCCGGCCCCTTTTCGCCCCCTGCCTGCCATACTGCGCCTAACTCGGTATTAATCCAAAGCTTATTTTGTAAGAGTGAGCTCTGGTGGAGACAAATGAGGTCTATTACGTGGGTGCCCTCTCCAAAGGCGGGGTGGCGGTGGACCAAAGGAAGGAAGCAAGCATCTCCGCATCGCATCCTCTTCCATTAACCAGTGGCCGGTTGCCACTCTCCTCCCCTCCCTCAGAGACACCAAACTGCCAAAAACAAGACGCGTAGCAGCACACACTTCACAAAGCCAAGCCTAGGCCGCCCTGAGCATCCTGGTTCAAACGGGTGCCTGGTCAGAAGGCCAGCCGCCCACTTCCCGTTTCCTCTTTAACTGAGGAGAAGCTGATCCAGTTTCCGGAAACAAAATCCTTTTCTCATTTGGGGAGGGGGGTAATAGTGACATGCAGGCACCTCTTTTAAACAGGCAAAACAGGAAGGGGGAAAAGGTGGGATTCATGTCGAGGCTAGAGGCATTTGGAACAACAAATCTACGTAGTTAACTTGAAGAAACCGATTTTTAAAGTTGGTGCATCTAGAAAGCTTTGAATGCAGAAGCAAACAAGCTTGATTTTTCTAGCATCCTCTTAATGTGCAGCAAAAGCAGGCGACAAAATCTCCTGGCTTTACAGACAAAAATATTTCAGCAAACGTTGGGCATCATGGTTTTTGAAGGCTTTAGTTCTGCTTTCTGCCTCTCCTCCACAGCCCCAACCTCCCACCCCTGATACATGAGCCAGTGATTATTCTTGTTCAGGGAGAAGATCATTTAGATTTGTTTTGCATTCCTTAGAATGGAGGGCAACATTCCACAGCTGCCCTGGCTGTGATGAGTGTCCTTGCAGGGGCCGGAGTAGGAGCACTGGGGTGGGGGTGGAATTGGGGTTACTCGATGTAAGGGATTCCTTGTTGTTGTGTTGAGATCCAGTGCAGTTGTGATTTCTGTGGATCCCAGCTTGGTTCCAGGAATTTTGTGTGATTGGCTTAAATCCAGTTTTCAATCTTCGACAGCTGGGCTGGAACGTGAACTCAGTAGCTGAACCTGTCTGACCCGGTCACGTTCTTGGATCCTCAGAACTCTTTGCTCTTGTCGGGGTGGGGGTGGGAACTCACGTGGGGAGCGGTGGCTGAGAAAATGTAAGGATTCTGGAATACATATTCCATGGGACTTTCCTTCCCTCTCCTGCTTCCTCTTTTCCTGCTCCCTAACCTTTCGCCGAATGGGGCAGCACCACTGACGTTTCTGGGCGGCCAGTGCGGCTGCCAGGTTCCTGTACTACTGCCTTGTACTTTTCATTTTGGCTCACCGTGGATTTTCTCATAGGAAGTTTGGTCAGAGTGAATTGAATATTGTAAGTCAGCCACTGGGACCCGAGGATTTCTGGGACCCCGCAGTTGGGAGGAGGAAGTAGTCCAGCCTTCCAGGTGGCGTGAGAGGCAATGACTCGTTACCTGCCGCCCATCACCTTGGAGGCCTTCCCTGGCCTTGAGTAGAAAAGTCGGGGATCGGGGCAAGAGAGGCTGAGTACGGATGGGAAACTATTGTGCACAAGTCTTTCCAGAGGAGTTTCTTAATGAGATATTTGTATTTATTTCCAGACCAATAAATTTGTAACTTTGC)$ . 20BR006 ENSG00000085224.22 ENSG00000102158.19 -/- -/- chrX:77693824 chrX:77830895 CDS/splice-site CDS/splice-site duplication 5 5 0 32 150 high in-frame . |OST3_/_OST6_family__transporter_family(100%) . . ENSG00000085224.22 ENSG00000102158.19 ENST00000373344.10 ENST00000358075.10 upstream downstream . ^(CTCGGCCCAACAAAATGGCGGCGGCAGCGGTGTCGCTTTGTTTCCGCGGCTCCTGCGGCGGTGGCAGTGGTAGCGGCCTTTGAGCTGTGGGGAGGTTCCAGCAGCAGCTACAGTGACGACTAAGACTCCAGTGCATTTCTATCGTAACCGGGCGCGGGGGAGCGCAGATCGGCGCCCAGCAATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAG___TGAAAGCAAGTTGAATACATTGGTGCAGAAGCTTCATGACTTCCTTGCACACTCATCAGAAGAATCTGAAGAAACAAGTTCTCCTCCACGACTTGCAATGAATCAAAACACAG___ATAAAATCAGTGGTTCTGGAAGTAACTCTGATATGATGGAAAACAGCAAGGAAGAG___GGAACTAGCT)CTTCAGAAAAATCCAAGTCTTCAGGATCGTCACGATCAAAGAG___GAAACCTTCAATTGTAACAAAGTATGTAGAATCAGATGATGAAAAACCTTTGGATGATGAAACTGTAAATGAAGATGCGTCTAATGAAAATTCAGAAAATGATATTACTATGCAGAGCTTGCCAAAAG___GTACAGTGATTGTACAGCCAGAGCCAGTGCTGAATGAAGACAAAGATGATTTTAAAGGGCCTGAATTTAGAAGCAGAAGTAAAATGAAAACTGAAAATCTCAAAAAACGCGGAG|TAATGTGTGTGGCTGGTATTGGACTTGTTGTATTATTCTTCAGTTGGATGCTCTCTATTTTTAGATCTAAATATCATGGCTACCCATACAG___CTTTCTGATGAGTTAAAAAGGTCCCAGAGATATATAGACACTGGAGTACTGGAAATTGAAAAACGAAAATCG(TGTGTGTTTGAAAAGAAGAATGCAACTTGTATATTTTGTATTACCTCTTTTTTTCAAGTGATTTAAATAGTTAATCATTTAACCAAAGAAGATGTGTAGTGCCTTAACAAGCAATCCTCTGTCAAAATCTGAGGTATTTGAAAATAATTATCCTCTTAACCTTCTCTTCCCAGTGAACTTTATGGAACATTTAATTTAGTACAATTAAGTATATTATAAAAATTGTAAAACTACTACTTTGTTTTAGTTAGAACAAAGCTCAAAACTACTTTAGTTAACTTGGTCATCTGATTTTATATTGCCTTATCCAAAGATGGGGAAAGTAAGTCCTGACCAGGTGTTCCCACATATGCCTGTTACAGATAACTACATTAGGAATTCATTCTTAGCTTCTTCATCTTTGTGTGGATGTGTATACTTTACGCATCTTTCCTTTTGAGTAGAGAAATTATGTGTGTCATGTGGTCTTCTGAAAATGGAACACCATTCTTCAGAGCACACGTCTAGCCCTCAGCAAGACAGTTGTTTCTCCTCCTCCTTGCATATTTCCTACTGAAATACAGTGCTGTCTATGATTGTTTTTGTTTTGTTGTTTTTTTGAGACGGTCTCGCTGTGTCACACAGGCTGGAGTGCAGTGGCGTGAGCTCGGCTGACTGCAAACTCTGCCTCCCAGGTTTAAGCGATTCTCCTGTCACAGCTTCCCAAGTAGCTGGGATTTACAGGTGTGCACCGCCATGCCAGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCAAGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCGCCCGCCTCAGTCTCCCAAAGTGCGAGGATGACATGTGTGAGCTACCACACCAGCAATGTCTATGCTTCTCGATAGCTGTGAACATGAAAAGACATCTATTGGGAGTCCGAGGCAGGTGGATTGCTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCAACAAGGCAAAACCCCGTCTCTACTAAAAATATGAAAATTAGCTGGGCTTGGTGGCTCATGCCTATAATCCTAGCTACTTGGGAGGCTGAGGCACGAGACTTGCTTAATACCTGGGAGGCGGAGATTGCAGTGAGCCGAGATCACGCTACTGCGCTCCAGCCTGAGTGATAGAGTGAGACTCTGTCTCAAAAAAAAGTATCTCTAAATACAGGATTATAATTTCTGCTTGAGTATGGTGTTAACTACCTTGTATTTAGAAAGATTTCAGATTCATTCCATCTCCTTAGTTTTCTTTTAAGGTGACCCATCTGTGATAAAAATATAGCTTAGTGCTAAAATCAGTGTAACTTATACATGGCCTAAAATGTTTCTACAAATTAGAGTTTGTCACTTATTCCATTTGTACCTAAGAGAAAAATAGGCTCAGTTAGAAAAGGACTCCCTGGCCAGGCGCAGTGACTTACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGCAGGAGCCTGTAATCCCAGCTACACAGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGATGGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGTAAGAAAGAAAAGGACTCCCTTAGAATGGGAAAGAAAAATCATAAAATATTGAGCTGATGCCTGTATATAGAAATTAAGCGTTTCTCGAAAGCTGTTCTATGTTTTGCTGTTATTTTAGTCTTTATTCTCTTCCTTTAGGTGGAGAAACAAAGTACCAATTTGAAGGGATTTTTTTTATTTTGTCTTTTGGTTTCTGTCAGTAGAAATAACCATATGTGCTAACCAAATTTCTGTGAAGAATGTTTTCATGGTTATCATTATATCTAACTATAACCTCCCCCATAGTTATGAAGAGTAACCTGAAATGCCACTATTGTGGAAATAGGATAATTGTAATTGTGAAAAAATAATTTTAAGGAAATCTTACAAGTATTACATTAAAAAGATACTATGACTGCCACCTGCCATTTACCTTCTAATAACCCTGCCATGTGGTTTGCAGAAAGAGATGGATATAGTAGCCTCAGAAGAAATATTTTATGTGGGTTTTTTGTTTTTCGTTACTAGATTTCATGGATGAGGGGATATGGTTGACCTTTTACTTTTTAATGGAGCAGCCAGTTTTTGTTAATTACTCACTTGTAAATTGTGAGATTCTGAATTCCTTACCTGCTATTCTTGTACTTGTCTCAGGCCAAATCTATGCTGTGGTTCTTATGAGACTTGTATGAAGATGCCCTGATTTGTACAGATTGACCACGGGAATACTACTGCCATGTAATCTGTATAGTTCCAGATAATTTGTCATGAACATTGACAGAATGACAATTTTTTGTATTTGCTTTTTCTCCCTTTAAGAGCACATTCTTCTGTAAGGAGAAAGGCAGCATTCTGGCTAAAATGTGTAGAAGGTAATTTACTACACTTATAAAATAGTGTGACTTTTGTGAAAATTTTGAATTAGCTTTCATATGAAGTGCCTTAAGTAGACTCTTCATTTACTTTTCTGGTAATGGTTTAAATATCATTTGTTATGCATTTTTAAGATACAGTTCAGAATGACACATTGTAGTGGCAAAGATAACCAAATGTCTGGCTGTTTGCTTTTTGACCATATCAATAAACTTTTACAATCTAAA)$ MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENSKEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQSLPKGTVIVQPEPVLNEDKDDFKGPEFRSRSKMKTENLKKRG|vMCVAGIGLVVLFFSWMLSIFRSKYHGYPYSFLMS* 20BR006 ENSG00000085224.22 ENSG00000102158.19 -/- -/- chrX:77696577 chrX:77830895 CDS/splice-site CDS/splice-site duplication 4 5 0 62 150 high in-frame . |OST3_/_OST6_family__transporter_family(100%) . . ENSG00000085224.22 ENSG00000102158.19 ENST00000373344.10 ENST00000358075.10 upstream downstream duplicates(1) ^(CTCGGCCCAACAAAATGGCGGCGGCAGCGGTGTCGCTTTGTTTCCGCGGCTCCTGCGGCGGTGGCAGTGGTAGCGGCCTTTGAGCTGTGGGGAGGTTCCAGCAGCAGCTACAGTGACGACTAAGACTCCAGTGCATTTCTATCGTAACCGGGCGCGGGGGAGCGCAGATCGGCGCCCAGCAATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAG___TGAAAGCAAGTTGAATACATTGGTGCAGAAGCTTCATGACTTCCTTGCACACTCATCAGAAGAATCTGAAGAAACAAGTTCTCCTCCACGACTTGCAATGAATCAAAACACAG___)ATAAAATCAGTGGTTCTGGAAGTAACTCTGATATGATGGAAAACAGCAAGGAAGAG___GGAACTAGCTCTTCAGAAAAATCCAAGTCTTCAGGATCGTCACGATCAAAGAG___GAAACCTTCAATTGTAACAAAGTATGTAGAATCAGATGATGAAAAACCTTTGGATGATGAAACTGTAAATGAAGATGCGTCTAATGAAAATTCAGAAAATGATATTACTATGCAGAGCTTGCCAAAAG|TAATGTGTGTGGCTGGTATTGGACTTGTTGTATTATTCTTCAGTTGGATGCTCTCTATTTTTAGATCTAAATATCATGGCTACCCATACAG___CTTTCTGATGAGTTAAAAAGGTCCCAGAGATATATAGACACTGGAGTACTGG(AAATTGAAAAACGAAAATCGTGTGTGTTTGAAAAGAAGAATGCAACTTGTATATTTTGTATTACCTCTTTTTTTCAAGTGATTTAAATAGTTAATCATTTAACCAAAGAAGATGTGTAGTGCCTTAACAAGCAATCCTCTGTCAAAATCTGAGGTATTTGAAAATAATTATCCTCTTAACCTTCTCTTCCCAGTGAACTTTATGGAACATTTAATTTAGTACAATTAAGTATATTATAAAAATTGTAAAACTACTACTTTGTTTTAGTTAGAACAAAGCTCAAAACTACTTTAGTTAACTTGGTCATCTGATTTTATATTGCCTTATCCAAAGATGGGGAAAGTAAGTCCTGACCAGGTGTTCCCACATATGCCTGTTACAGATAACTACATTAGGAATTCATTCTTAGCTTCTTCATCTTTGTGTGGATGTGTATACTTTACGCATCTTTCCTTTTGAGTAGAGAAATTATGTGTGTCATGTGGTCTTCTGAAAATGGAACACCATTCTTCAGAGCACACGTCTAGCCCTCAGCAAGACAGTTGTTTCTCCTCCTCCTTGCATATTTCCTACTGAAATACAGTGCTGTCTATGATTGTTTTTGTTTTGTTGTTTTTTTGAGACGGTCTCGCTGTGTCACACAGGCTGGAGTGCAGTGGCGTGAGCTCGGCTGACTGCAAACTCTGCCTCCCAGGTTTAAGCGATTCTCCTGTCACAGCTTCCCAAGTAGCTGGGATTTACAGGTGTGCACCGCCATGCCAGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCAAGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCGCCCGCCTCAGTCTCCCAAAGTGCGAGGATGACATGTGTGAGCTACCACACCAGCAATGTCTATGCTTCTCGATAGCTGTGAACATGAAAAGACATCTATTGGGAGTCCGAGGCAGGTGGATTGCTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCAACAAGGCAAAACCCCGTCTCTACTAAAAATATGAAAATTAGCTGGGCTTGGTGGCTCATGCCTATAATCCTAGCTACTTGGGAGGCTGAGGCACGAGACTTGCTTAATACCTGGGAGGCGGAGATTGCAGTGAGCCGAGATCACGCTACTGCGCTCCAGCCTGAGTGATAGAGTGAGACTCTGTCTCAAAAAAAAGTATCTCTAAATACAGGATTATAATTTCTGCTTGAGTATGGTGTTAACTACCTTGTATTTAGAAAGATTTCAGATTCATTCCATCTCCTTAGTTTTCTTTTAAGGTGACCCATCTGTGATAAAAATATAGCTTAGTGCTAAAATCAGTGTAACTTATACATGGCCTAAAATGTTTCTACAAATTAGAGTTTGTCACTTATTCCATTTGTACCTAAGAGAAAAATAGGCTCAGTTAGAAAAGGACTCCCTGGCCAGGCGCAGTGACTTACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGCAGGAGCCTGTAATCCCAGCTACACAGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGATGGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGTAAGAAAGAAAAGGACTCCCTTAGAATGGGAAAGAAAAATCATAAAATATTGAGCTGATGCCTGTATATAGAAATTAAGCGTTTCTCGAAAGCTGTTCTATGTTTTGCTGTTATTTTAGTCTTTATTCTCTTCCTTTAGGTGGAGAAACAAAGTACCAATTTGAAGGGATTTTTTTTATTTTGTCTTTTGGTTTCTGTCAGTAGAAATAACCATATGTGCTAACCAAATTTCTGTGAAGAATGTTTTCATGGTTATCATTATATCTAACTATAACCTCCCCCATAGTTATGAAGAGTAACCTGAAATGCCACTATTGTGGAAATAGGATAATTGTAATTGTGAAAAAATAATTTTAAGGAAATCTTACAAGTATTACATTAAAAAGATACTATGACTGCCACCTGCCATTTACCTTCTAATAACCCTGCCATGTGGTTTGCAGAAAGAGATGGATATAGTAGCCTCAGAAGAAATATTTTATGTGGGTTTTTTGTTTTTCGTTACTAGATTTCATGGATGAGGGGATATGGTTGACCTTTTACTTTTTAATGGAGCAGCCAGTTTTTGTTAATTACTCACTTGTAAATTGTGAGATTCTGAATTCCTTACCTGCTATTCTTGTACTTGTCTCAGGCCAAATCTATGCTGTGGTTCTTATGAGACTTGTATGAAGATGCCCTGATTTGTACAGATTGACCACGGGAATACTACTGCCATGTAATCTGTATAGTTCCAGATAATTTGTCATGAACATTGACAGAATGACAATTTTTTGTATTTGCTTTTTCTCCCTTTAAGAGCACATTCTTCTGTAAGGAGAAAGGCAGCATTCTGGCTAAAATGTGTAGAAGGTAATTTACTACACTTATAAAATAGTGTGACTTTTGTGAAAATTTTGAATTAGCTTTCATATGAAGTGCCTTAAGTAGACTCTTCATTTACTTTTCTGGTAATGGTTTAAATATCATTTGTTATGCATTTTTAAGATACAGTTCAGAATGACACATTGTAGTGGCAAAGATAACCAAATGTCTGGCTGTTTGCTTTTTGACCATATCAATAAACTTTTACAATCTAAA)$ MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENSKEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQSLPK|vMCVAGIGLVVLFFSWMLSIFRSKYHGYPYSFLMS* 20BR006 ENSG00000153317.15 ENSG00000170632.14 -/- +/+ chr8:130401885 chr7:103097277 CDS/splice-site CDS/splice-site translocation 0 8 0 17 228 medium out-of-frame . |Armadillo-like(100%) . . ENSG00000153317.15 ENSG00000170632.14 ENST00000518721.6 ENST00000441711.6 upstream upstream . ^(ACATGGTCGCCCGCCCCTTCCTGCGCCGCGCTCGGCTCCCGCGCCTCGCCTGGCCTGGCCGCTGCCGCGGGCGAGCACTGTGCGCTGGGCAGCCCCGGGCCCGCGCCTCCCGCCCAGCCGGCGCTTCCCGGTCGCAGTTCGCTTTCCCACCCGAGAGCCGCGAGCGCCCGGCCGAACCCGCGATGGAATAATGCCCAGCGGCCCGCCAGGTCCCG___)GTCGTTTTCTGATGTGACGGCTGAGACATGAGATCTTCAGCCTCCAGGCTCTCCAGTTTTTCGTCGAGAGATTCACTATGGAATCG|GTGCAAGTTTTGAAACTGCTTTTGAATTTGTCTGAAAATCCAGCCATGACAGAAGGACTTCTCCGTGCCCAA___GTGGATTCATCATTCCTTTCCCTTTATGACAGCCACGTAGCAAAGGAGATTCTTCTTCGAGTACTTACGCTATTTCAGAATATAAAGAACTGCCTCAAAATAGAAGGCCATTTAGCTGTGCAGCC(TACTTTCACTGAAGGTTCATTGTTTTTCCTGTTACATGGAGAAGAATGTGCCCAGAAAATAAGAGCTTTAGTTGATCACCATGATGCAGAGGTGAAGGAAAAGGTTGTAACAATAATACCCAAAATCTGATTGGTCATATTTTTCCAAAGAGTAATGCAGTCTGGATATAAACGTATTTTCTGTCTTCCTTATAAGGGGATTCTCCCAGCTGCTAAATTTAAACAGTAAATATCACATTTTGTCATTAACACAGCTATAACTTGCCGTGGTTCTCAGATTTATTTTGGACTATTTTGATGCCAAGTGAATATAAGAGCTTGTACTGAAACCATTTATTTCTTTCTATTTTGCTATTTGCAAATGCTTGTTATCTTCCCTACATGAAGTGGCAGTAACCTTTTTCACATTTAAGCTACCCTTCTACCTTTTGAAGTGATTTGCAGTTACTCATCTGAGACAGCATCAGTATTTGACTAAATCATTGTTTCACAACTGAATAGTCTTGTTCTTTTAGTAGCAACGAAATCCTAAGCTCTTGAGGCCATTCACCTGCCAACCTGACCATACTGCTTTCAAAAGTCTTTTCTCATCAGTAGAATCTATTTTGGTCACTTCTAGTCAATGAAAAATGTAAACTTTTAGGAGAGAATGTTTCTTAGGACTCACCCACTCCATTCAATGTTATATATAAAATAGTGTGATCAATCACAATGTCCATCTTTAGACAGTTGGTTAAATAAATTATCTGGTCTTTGAAAAGACCGTGCTGGGCGCGGTGGCTCTTGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGATCGGGAGTTTGAGACCAAGCCTGACCAATATGGAGAAACCCTGTCTCTACTAAGAACACAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAATGATGGAGCTCCGAATGTGCTTAAGTGGAAAGATATCTATGAAATATGGTGGTTTTTTAAAACACAAAAATTATAGAATATGGGATCCCGTGTGTGTGTGTGTGTGTTTGAATGAAAAATGCTTATGTATTGACAGAACACTTCTAGAATGATACCCAAACTCCTGGAGTGGGAGTGGGGAATGCCTTCTACGTACACACTGTTCTACTGTTTGAATTTTTTAATATGAGCCCAAATTGTATAATCTTTTTTTAATAAAGGGGAGAAAAATC)$ MRSSASRLSSFSSRDSLWNr|ckf* 20BR007 ENSG00000154188.10(10420),ENSG00000286766.1(152831) ENSG00000154188.10 ./- -/- chr8:107346942 chr8:107336271 intergenic 5'UTR/splice-site deletion/read-through 92 60 4 258 197 high . . |Fibrinogen_beta_and_gamma_chains__C-terminal_globular_domain(100%) . . . ENSG00000154188.10 . ENST00000520052.1 upstream downstream duplicates(20),inconsistently_clipped(1),mismappers(5),mismatches(2) CTGCCATTCTGACTCACATAGGGTGCAGCAATCAGCGCCGAAGTCCAGAAAACAGTGGGAGcAGATATAACCGGATTCAACATGGGCAATGTGCCTACACTTTCATTCTTCCAGAACACGATGGCAACTGTCGTGAGAGTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGATGCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAA___CTTGAGAATTACATTGTGGAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAGCAGACCAGAAAGCTGACAGATGTTGAGACCCAG|GTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAGCAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAG___TTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGACACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACC(ACCAACAACAGTGTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAG___TTTTACTAAAGGGAGGAAAAAGAGAGGAAGAGAAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAG___GTGTTTTGCAATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATG___GGTTTTGGAAATCCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCCTATTCACAGTATGACAGATTCCACATAGGAAATGAAAAGCAAAACTATAG___GTTGTATTTAAAAGGTCACACTGGGACAGCAGGAAAACAGAGCAGCCTGATCTTACACGGTGCTGATTTCAGCACTAAAGATGCTGATAATGACAACTGTATGTGCAAATGTGCCCTCATGTTAACAGGAG___GATGGTGGTTTGATGCTTGTGGCCCCTCCAATCTAAATGGAATGTTCTATACTGCGGGACAAAACCATGGAAAACTGAATGGGATAAAGTGGCACTACTTCAAAGGGCCCAGTTACTCCTTACGTTCCACAACTATGATGATTCGACCTTTAGATTTTTGAAAGCGCAATGTCAGAAGCGATTATGAAAGCAACAAAGAAATCCGGAGAAGCTGCCAGGTGAGAAACTGTTTGAAAACTTCAGAAGCAAACAATATTGTCTCCCTTCCAGCAATAAGTGGTAGTTATGTGAAGTCACCAAGGTTCTTGACCGTGAATCTGGAGCCGTTTGAGTTCACAAGAGTCTCTACTTGGGGTGACAGTGCTCACGTGGCTCGACTATAGAAAACTCCACTGACTGTCGGGCTTTAAAAAGGGAAGAAACTGCTGAGCTTGCTGTGCTTCAAACTACTACTGGACCTTATTTTGGAACTATGGTAGCCAGATGATAAATATGGTTAATTTC)$ . 20BR007 ENSG00000100023.19 ENSG00000185651.15 +/+ +/+ chr22:21666131 chr22:21610857 CDS/splice-site CDS/splice-site duplication 11 54 0 64 1082 high out-of-frame . |Ubiquitin-conjugating_enzyme(100%) . . ENSG00000100023.19 ENSG00000185651.15 ENST00000335025.12 ENST00000458578.6 downstream upstream duplicates(4) ^GGAAGTGGTCACGGAACTCGGCTGCGGCTCCATGGTCTGAGTTGTCAGCCGTTGTTTTTTCGTGCTCGCTAGTCGCCGCCGCCGCTCCGCCATGGGGAAGCGACAGCACCAAAAGGACAAAAT|GACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAAG___TAATCCAGTCCCTCATAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGAATGCTGAAGAGTTTACAAAGAAATATGGGGAAAAGCGACCTGTGG(ACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACCCCGTGCAGTGCATTCAGACACCCCGCAAAGCAGGACTCTGTGGAAATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAACTTTCTACAGTTTTCTTAATCAAAAGTGGTCTAGGTAACCTGTAAAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGTTTTAAAAATCACTGCTTCAATCTACTTCAAAAGAATGGTGTTTCTTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCCATAAGGTTTAAAAAAAAGGAAAAAAAACGGTTGTGGTTCCCTTTCTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTTTCACTTACTTACTTCCCCAGACCCCGGGCTCGCCTCCACAAAGGAGAAGAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGTGGCACTGTTGCCCAGTGTGGGAGTTGGTTTAAATTCTCCTGACTCCAGTTTATAACATCCTTTTAAAAAATTTAAAAACAAACAGCCACACCCCTCCTCCAGTCCTTCTCCTCAGTTCTTGTGTGAAACTCCAGCTGATGTTACCACAGTAACATCAGTTAATTGGGCAAGCCCTGATGTCAGTGTGTGTAACTGACCTCTGGCCTGGCCTGCACAGAGAAGCCCTATAATCACAGGTCTGTGGTGGCCCCGAAATGGGGGGCCTGCTAGTCAGGAGGATGCTGTGCACACTGTGTGTGATGAATCTCGCCAGAAAGGCTCCTGAGGTCCCAGGTTGGCACTTCTCCCTGCAGCCATTGTAGAAGATCTGCTGGTCCTTGCAGGCAAAGCTACAGCCAGAATGTCCGTTTGAAACTCCTAGCTCATCTGTCACCGAGCTTCATCCGAATGTGCCACGGAGCTTGCTCTCCACTTCCTCCGTGCAGTGGCCCTGCCACAGCCCTCCCTCGGCACACTTTGACCCTTTGTAGGATTGGAATTAGCAGGACTCGGCTATTTAAAGCACCAGTCTGGGGTCGCCTGGGCCCCTGCTGACCCCCTCCTCCAGAGCAGCCAGCCCAGCCCGGGAACAAGACGGACTTCCTCTCCCTTCGGACTCACAGCCTTTGCAGAGTCAAGCTCCACTTGAAGCTCACTCAGTAATATCCTTTCAATGTGTTTTATATTGTTTTGACTGCCTTTTTTTGTAGAAATAAAAATTGACCTTAGAATTTATCGTCAGATAAACTTGTAAAGATTTGAATATTAATGTCTTTTCAAGGCAAATGGGATTGTCCCCGCACTAGTAGAGAATCCATGTCGCTCTGACACCCCAAGGAAGCCGACGATCCAAATGCCGTGTGTCACCAACCCCGCTTCTGCCACTGGCGGCTTCCCTTCTTGGCTCTTGGGGGGGACTAGATCCTGTGGAGAAGATGACTTAAACTTTGCTTTTTGTTTTAATTTTAATTCTATAACTTGAGATCTTTCCGGGGCCTACAGGCGTGTAAGACAGCTTGGTCTGGTCTGTGCAGAAGTGGGGAGTGATGGGCAGGTTCGGCAGCCTAACATTGTTCAGGCGCATGGCCCCTGCGGTGTGTACACGAACTCGGCTTCTTTTGTCCTAGGTACGCCAAGGGCAGGTTTCTGGAGACTCCCTTGTGCCCGGGATGGCAAGGGCACCGGGCTGGCGTTTCCACATCTGTCTTCATTAGCAGAAAAGTGATGATGGATTTTATTTCACTCACACTCCAGTTTGTAATAAAATGCCAAATTCTGTCAGCTATCCAAACAAGCCACCATTTGTTCTTGTTGCTTCTCTGGATCCAGAAATGTTGCCATTCTTGGAAACTGTCCCATTGCTTCGTATTTCTGCCAACGTAGCTCTGCCTGCCTGTCAACCCCTCACTGCACTCTGCTCATCACGGGAGGATACCTGTGTGCCGGCAGCCCCTCAGGGACTCTCAGCCCTGGCACTGGCACCCCAGGGTTGGCCCCGTCAGCAGAGGCTTGGCTTTCGAGCCAGTGGGTGTCTCTCCTTTGGGCCTGGGCGGCTTGCTCCTGCCAGCCATGCCTTCAGGGTAGGCTCTGAGCAAGCTGGCGAACAGCCCTGGCTGCTCCAAAACCAAAAAGCTGGGTCCTCTGGAGGAGGGGCGAGCTGTGGAGCAGCCACCCACTGCTGCCCCAAGCTCACTCAGGAATTCACACCCGCCTGGTTTCTTGAAGTGTGCTGGGTCCTTCCCTCTGCTCCCTACTCCCCACCACGGCAGAGAATAGGCTTTCTAAGATGCTGCGATCCCGTTCTGCTGCCCGTAATAAAAATGCTCTCAGACACTG)$ MGKRQHQKDKm|ttlhmirepseskstfqqsthsnhrrshlkqrsitqtstkrgrsvcq* 20BR007 ENSG00000100139.13 ENSG00000100124.15 +/+ -/+ chr22:37933112 chr22:37837518 CDS/splice-site intron duplication/5'-5' 16 40 0 76 149 high out-of-frame . Calponin_homology_(CH)_domain(100%),LIM_domain(100%),Protein_of_unknown_function_(DUF3585)(100%)| . . ENSG00000100139.13 ENSG00000100124.15 ENST00000215957.10 . downstream upstream duplicates(5) ^(GCCTGCCGGTCGGCGCCCGAGCTCGGAGCCGCAGCCGCAGCCGGAAACCGGGCCCGCGCGGCGGCCGCCGTCCCGGCCAAGCCGGGGCCCCGAAGCCAGAGCCGGAGCCGGGCGGGCCGCGGGGTCATGGCTGGGCCGCGGGGCGCGCTGCTGGCCTGGTGCCGCCGCCAGTGCGAGGGCTACCGCGGCGTGGAGATCCGCGACCTGAGCAGCTCCTTCCGGGACGGCCTGGCCTTCTGCGCCATCCTGCACCGGCACCGGCCCGACCTGCT___AGATTTTGATTCGCTTTCCAAGGACAATGTCTTCGAGAATAACCGTTTG___GCCTTTGAAGTGGCTGAGAAGGAGCTGGGGATCCCCGCTCTCCTGGACCCCAATGACATGGTCTCCATGAGCGTCCCTGACTGCCTCAGCATCATGACCTATGTGTCCCAGTATTACAACCACTTCTGCAGTCCTGGCCAAG___CTGGTGTCTCGCCACCCAGAAAGGGCCTTGCACCCTGTTCCCCGCCGTCTGTAGCACCCACTCCAGTGGAACCAGAAGATGTGGCTCAG___GGCGAGGAGCTCTCCTCAGGCAGCCTGTCAGAGCAGGGCACCGGCCAGACCCCCAGCAGCACGTGCGCAGCCTGCCAGCAGCATGTGCACTTGGTGCAGCGCTACCTGGCTGACGGCAGGCTGTACCATCGCCACTGCTTCCG___GTGTCGGCGGTGCTCCAGCACCCTGCTCCCTGGGGCTTATGAGAATGGGCCTGAGGAGGGCACCTTTGTGTGTGCAGAACACTGTGCCAGGCTGGGCCCGGGGACACGGTCGGGGACCAGGCCTGGGCCCTTCTCACAGCCAAAGCAGCAGCACCAGCAGCAACTCGCAGAAGATGCCAAGGATGTTCCAGGAGGCGGCCCCAGCTCCAGTGCTCCTGCAGGGGCTGAGGCCGATGGACCCAAGGCCAGCCCTGAGGCCCGGCCGCAGATCCCTACCAAGCCCCGGGTTCCTGGCAAACTACAGGAGCTGGCCAGCCCCCCTGCGGGCCGCCCCACCCCTGCCCCCAGGAAGGCCTCTGAGAGCACCACCCCAGCACCCCCCACGCCCCGGCCCCGCTCCAGTCTGCAGCAGGAGAACCTGGTGGAGCAGGCTGGCAGCAGCAGCCTGGTGAACG___GGAGACTGCACGAACTGCCTGTCCCCAAGCCGAGGGGGACACCGAAGCCGTCCGAGGG___GACACCAGCCCCCAGGAAGGACCCCCCATGGATCACGCTGGTGCAGGCAGAACCAAAGAAGAAGCCAGCCCCACTTCCCCCAAGCAGCAGCCCGGGGCCACCAAGCCAGGACAGCAGGCAGGTGGAGAATGGAGGCACCGAGGAGGTGGCCCAGCCGAGCCCAACGGCCAGCCTGGAGTCCAAACCCTATAACCCCTTTGAGGAGGAGGAGGAGGACAAGGAGGAAGAGGCTCCAGCTGCACCCAGCCTGGCCACCAGCCCTGCCCTGGGCCACCCGGAGTCCACACCCAAGTCCCTGCACCCCTGGTACGGCATCACCCCTACCAGCAGCCCCAAGACAAAGAAGCGCCCTGCCCCGCGCGCACCCAGCGCGTCCCCACTGG___CTCTCCACGCCTCCCGCCTCTCGCACTCGGAGCCGCCCTCGGCCACACCATCGCCAGCGCTCAGCGTGGAGAGCCTGTCGTCTGAGAGCGCCAGCCAGACTGCAGGTGCAGAGCTTCTGGAGCCGCCAGCTGTGCCCAAGAGCTCCTCAGAGCCTGCTGTCCATGCCCCTGGTACCCCTGGAAACCCTGTCAGCCTCTCTACCAACTCCTCCCTGGCCTCCTCTGGGGAACTAGTGGAGCCTAGAGTGGAACAAATGCCTCAAGCCAGCCCTGGCCTTGCCCCCAGGACCAGGGGCAGCTCAGGTCCCCAGCCAGCCAAGCCCTGCAGTGGCGCCACCCCAACGCCTCTCTTGTTGGTTGGAGACAGGAGCCCGGTGCCTTCCCCTGGAAGCTCGTCCCCACAGCTGCAGGTAAAG___TCCTCCTGCAAGGAGAATCCTTTTAACCGGAAGCCATCACCTGCAGCGTCCCCAGCCACAAAGAAGGCCACCAAGGGATCCAAGCCAGTGAGGCCACCTGCCCCTGGACACGGCTTTCCACTCATCAAACGCAAG___GTCCAGGCTGACCAGTACATCCCTGAGGAGGACATCCATGGAGAGATGGATACCATTGAGCGCCGGCTGGATGCCCTGGAGCACCGTGGGGTGCTGCTGGAGGAGAAGCTG)CGTGGCGGCCTGAATG___AGGGCCGTGAGGATGACATGCTGGTGGACTGGTTCAAGCTCATCCACGAGAAGCACCTACTGGTGCGGCGAGAGTCCGAGCTCATCTATGT___CTTCAAGCAGCAGAACCTGGAGCAGCGCCAGGCTGATGTCGAGTATGAGCTCCGGTGCCTCCTCAATAAGCCAG|ATTCAATGAACCCTGGACTCAGAACCCGAGGATATGGAGGGCCAACTTCAAAGGACTTGAGCATCCATGGAGTTTGGTATCTGAGTGGGGTCCTGGAACCAATCCCAAGAACACTGAGGGAAGACTGTACTGATATAGGCAGTATTCATGGGTGAATCTCATGGAGATAACTTTGAGTAAAAGTATGCAAGGCTGG MAGPRGALLAWCRRQCEGYRGVEIRDLSSSFRDGLAFCAILHRHRPDLLDFDSLSKDNVFENNRLAFEVAEKELGIPALLDPNDMVSMSVPDCLSIMTYVSQYYNHFCSPGQAGVSPPRKGLAPCSPPSVAPTPVEPEDVAQGEELSSGSLSEQGTGQTPSSTCAACQQHVHLVQRYLADGRLYHRHCFRCRRCSSTLLPGAYENGPEEGTFVCAEHCARLGPGTRSGTRPGPFSQPKQQHQQQLAEDAKDVPGGGPSSSAPAGAEADGPKASPEARPQIPTKPRVPGKLQELASPPAGRPTPAPRKASESTTPAPPTPRPRSSLQQENLVEQAGSSSLVNGRLHELPVPKPRGTPKPSEGTPAPRKDPPWITLVQAEPKKKPAPLPPSSSPGPPSQDSRQVENGGTEEVAQPSPTASLESKPYNPFEEEEEDKEEEAPAAPSLATSPALGHPESTPKSLHPWYGITPTSSPKTKKRPAPRAPSASPLALHASRLSHSEPPSATPSPALSVESLSSESASQTAGAELLEPPAVPKSSSEPAVHAPGTPGNPVSLSTNSSLASSGELVEPRVEQMPQASPGLAPRTRGSSGPQPAKPCSGATPTPLLLVGDRSPVPSPGSSSPQLQVKSSCKENPFNRKPSPAASPATKKATKGSKPVRPPAPGHGFPLIKRKVQADQYIPEEDIHGEMDTIERRLDALEHRGVLLEEKLRGGLNEGREDDMLVDWFKLIHEKHLLVRRESELIYVFKQQNLEQRQADVEYELRCLLNKP|dsmnpglrtrgyggptskdlsihgvwylsgvlepiprtlredctdigsihg* 20BR007 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 15 11 0 265 75 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(6) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGA)AGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAACAGATCCTTGAGTATTCGTTT MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 20BR007 ENSG00000065060.17 ENSG00000205054.8 +/+ -/+ chr6:34823348 chr2:45290483 CDS/splice-site intron translocation/5'-5' 7 12 0 45 28 high out-of-frame . . . . ENSG00000065060.17 ENSG00000205054.8 ENST00000452449.6 . downstream upstream duplicates(1) ^(GCGGGTGGCGCGCGATCTTCGCGTCGCTCTGGGCGGGCGGCCGCGGCGCCGCGCTGGTGGGTGGGATCGTGGCGGAGCGCCAGGCGCCCAAAGAGGGGCGAGAAAGCGCCATGGCGGCGGCGGCGGCTGTGTCCGGTGCTCACGCCGCGGCGAGGTGAGGGGACCGCCTCTTCTCCACAACTGAGGAGGCCACAGCTGCCGGCCCACCCGCCTTCCACGCGGGCCGCGGCTCCGGCATGGCCGGGATCATTAAGAAGCAGATCCTGAAACACCTGTCCCG___GTTCACTAAGAATCTTTCCCCAGACAAAATCAACCTGAGCACCCTGAAAGGGGAGGGTCAGCTGACCAACCTGGAGC)TGGATGAAGAGGTTCTACAGAATGTACTGGAGCTGCCCACCTGGTTAGCCATCACTCGGGTCTACTGCAACAGGGCCTCCATCCGG___ATCCAGTGGACAAAGTTGAAGACACACCCTATTTGCTTG___TGTCTGGATAAGGTAGAGGTGGAGATGAAGACATGTGAGGATCCTCGGCCCCCCAATGGACAGTCTCCCATTGCCCTTGCTTCAGGACAGAG|ACACTCCACATGACCTGCTAGATGAGAGAGGGTCCTCCACACACATGCCATGGAAAAATGAGCTGCCGCCAACCCATGCTGGAACGCCCTCACCTACTTTCCGCTGGCTGACTCCACACTGACTCTTTTGAAAATTTAAAGCTGTTCTTTTTCCTGATGAAATCAGGTAATTGTTCCAAAATTCTAAAACAATAGGTAATGCAGCAGGTGTTGGGGTGGCAATTCGCACAATTTTGAGC MAGIIKKQILKHLSRFTKNLSPDKINLSTLKGEGQLTNLELDEEVLQNVLELPTWLAITRVYCNRASIRIQWTKLKTHPICLCLDKVEVEMKTCEDPRPPNGQSPIALASGQr|hst* 20BR007 ENSG00000163785.12 ENSG00000240006.1(5356),ENSG00000260633.1(20761) -/- ./- chr3:134188837 chr3:134326527 CDS/splice-site intergenic duplication 12 6 0 313 29 high out-of-frame . Protein_kinase_domain(100%),WIF_domain(100%)| . . ENSG00000163785.12 . ENST00000623711.3 . upstream downstream duplicates(3) ^(CGGCTCGGGGCTGTGAGCGGCTCGGGGCCGGGGGTGGGCGGCGGTGCGGCGGGCGGCCGACGCTCCTCTTCGGCGGCGGCGGCGGCGGCCATGCGTGGGGCGGCGCGGCTGGGGCGGCCGGGCCGGAGTTGCCTCCCGGGGGCCCGCGGCCTGAGGGCCCCGCCGCCGCCGCCGCTGCTGCTTCTGCTTGCGCTGTTGCCGCTGCTGCCCGCGCCTGGCGCTGCCGCCGCCCCCGCCCCGCGGCCCCCGGAGCTGCAGTCGGCTTCCGCGGGGCCCAGCGTGAGTCTCTACCTGAGCGAGGACGAGGTGCGCCGGCTGATCG___GTCTTGATGCAGAACTTTATTATGTGAGAAATGACCTTATTAGTCACTACGCTCTATCCTTTAGTCTGTTAGTACCCAGTGAGACAAATTTCCTGCACTTCACCTGGCATGCGAAGTCCAAG___GTTGAATATAAGCTGGGATTCCAAGTGGACAATGTTTTGGCAATGGATATGCCCCAGGTCAACATTTCTGTTCAGGGGGAAGTTCCACGCACTTTATCAG___TGTTTCGGGTAGAGCTTTCCTGTACTGGCAAAGTAGATTCTGAAGTTATGATACTAATGCAGCTCAACTTGACAGTAAATTCTTCAAAAAATTTTACCGTCTTAAATTTTAAACGAAGGAAAATGTGCTACAAAA___AACTTGAAGAAGTAAAAACTTCAGCCTTGGACAAAAACACTAGCAGAACTATTT___ATGATCCTGTACATGCAGCTCCAACCACTTCTACGCGTGTGTTTTATATTAGTGTAGGGGTTTGTTGTGCAGTAATATTTCTCGTAGCAATAATATTAGCTGTTTTGCACCTTCATAGTATGAAAAGGATTGAACTGGATGACAG___CATTAGTGCCAGCAGTAGTTCCCAAGGGCTGTCTCAGCCATCCACCCAGACGACTCAGTATCTGAGAGCAGACACGCCCAACAATGCAACTCCTATCACCA___GTTAT)CCTACCTTGCGGATAGAGAAGAACGACTTGAGAAGTGTCACTCTTTTGGAGGCCAAAGGCAAGGTGAAGGATATAGCAATATCCAGAGAGAGGATAACTCTAAAAGATGTACTCCAAGAAG___GTACTTTTGGGCGTATTTTCCATGGGATTTTAATAGATGAAAAAGATCCAAATAAAGAAAAACAAGCATTTGTCAAAACAGTTAAAG|CCGATCGAATGCCTGCTGCACTGCTGAAGAGGAAACAGAGTCGTGGCCTCCGGGAGGGGGCTCAAACCTGTGACTGGTGCATGTTCGCCATTAGACACACTGGCTGGTGACCAGCAGCCCCACCTACAGAATTCCCTGGAATGAGGAATGGCATTCCTGAGACCACTCAGCAGAGACTgCCTCAAAAGGCG MRGAARLGRPGRSCLPGARGLRAPPPPPLLLLLALLPLLPAPGAAAAPAPRPPELQSASAGPSVSLYLSEDEVRRLIGLDAELYYVRNDLISHYALSFSLLVPSETNFLHFTWHAKSKVEYKLGFQVDNVLAMDMPQVNISVQGEVPRTLSVFRVELSCTGKVDSEVMILMQLNLTVNSSKNFTVLNFKRRKMCYKKLEEVKTSALDKNTSRTIYDPVHAAPTTSTRVFYISVGVCCAVIFLVAIILAVLHLHSMKRIELDDSISASSSSQGLSQPSTQTTQYLRADTPNNATPITSYPTLRIEKNDLRSVTLLEAKGKVKDIAISRERITLKDVLQEGTFGRIFHGILIDEKDPNKEKQAFVKTVK|adrmpaallkrkqsrglregaqtcdwcmfairhtgw* 20BR007 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 8 8 0 21 21 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream . CCCAGAGCTTCAAACTGGTGAGCCGAG___ATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTG(GCCTCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 20BR007 ENSG00000138231.13 ENSG00000118017.4(17848),ENSG00000138231.13(10750) -/- ./- chr3:138170107 chr3:138150238 CDS/splice-site intergenic deletion/read-through 5 9 1 57 25 high out-of-frame . Calcineurin-like_phosphoesterase(100%)| . . ENSG00000138231.13 . ENST00000260803.9 . upstream downstream duplicates(2) ^(GCAGGAGTCTACACCCAGGCGGTGGCTATACTTATTAAAGTTGGCGGGAGCTGAGCGATCAGTCGGTCCTGGGCTGGCTGTGGTGTAGGGCGTTGCAGGCAGCGCTCACCTCCTCAGGCCGGCAGAATGCGGGTGGCTGTGGCTGGCTGCTGCCACGGCGAGCTGGATAAGATCTATGAGACGCTGGCGCTGGCAGAGCGGCGCGGCCCGGGGCCTGTCGACCTCTTGCTGTGCTGCGGCGACTTCCAGGCGGTGCGCAACGAGGCGGATCTACGCTGCATGGCCGTGCCGCCCAAGTATCGTCACATGCAAACCTTCTACAG___GTATTACTCTGGAGAGAAAAAGGCTCCAGTTCTCACGCTCTTCATTGGGGGAAACCATGAAGCCTCAAATCATTTGCAAGAGTTACCCTATGGTGGCTGGGTGGCACCAAACATTTATTATTTAG___GTTTGGCTGGTG)TGGTAAAATACCGAGGTGTAAGGATCGGTGGAATCTCTGGTATCTTTAAATCTCATGACTATCGAAAAG___GTCATTTTGAGTGCCCCCCTTATAATTCATCTACAATCAGGAGTATATATCATGTGAGAAATATTGAAGTCTATAAATTAAAACAG|AGATGGGGTCTCGCTTTGCCACCTAGACTGCTGGAGTACAGTGGTGTCATCATAAATCACTGTAGCCTTGAACTCCTGGGCTCAAGTGATGCTCCTGCTTCAGCCTCCCAAGTAGCTGAGACTACACGTGCACACCACCACACCTGGCTAATTTTTAAAAAATTTTTGTAGAGATGGAATCTCGATATGTAACCCCTGCTGGTCTCAAATTCCTGGACTCAAGGGATCCTCCCTCC MRVAVAGCCHGELDKIYETLALAERRGPGPVDLLLCCGDFQAVRNEADLRCMAVPPKYRHMQTFYRYYSGEKKAPVLTLFIGGNHEASNHLQELPYGGWVAPNIYYLGLAGVVKYRGVRIGGISGIFKSHDYRKGHFECPPYNSSTIRSIYHVRNIEVYKLKQ|rwglalpprlleysgviinhcslellgssdapasasqvaettrahhhtwlifkkfl* 20BR007 ENSG00000259776.1(294931),ENSG00000133019.11(83324) ENSG00000133019.11 ./+ +/+ chr1:239545749 chr1:239632224 intergenic 5'UTR/splice-site deletion/read-through 7 6 0 17 16 high . . |7_transmembrane_receptor_(rhodopsin_family)(100%) . . . ENSG00000133019.11 . ENST00000255380.8 downstream upstream duplicates(1) ATCTGAACTTAGGTGTAAACCATTGCCCTGGCAGAGGGAACCTACCCAGTCCATTGCTGCCTGCTACAAG___ATATGAACAGTAATGGCACATATTTTGGTTATGAGTCACTCAGAGGACTGTGGATTGAATGAACTGTATCCATCCCCATCATGATGTACAGAACCAAGTCTCTTCACTA|CACTTGTGTTCTGATTAGTGGCCAAATAAATGACAGTCAGAACTTCAGCTAAGGTACAATAAG___GTTTTGCTGTGGCGTGGCACCTGGTCTCTTTCTAGAAGGAAAGTTCAACATACAGCACAATTCTGGACACATTGTATTGGTTTGATGCTCCTACCTGGAACAG___GTGGAGCTGGTCTCTTGGGCAGCCTGACATCTGGTCCACTCCTCTGTCCTATGCCGGGATCATCATGACCGTAGAG(ATTATGTCACTGTTTTGCATCCTTGTTACATAACTCAGTTCCTGGTAGATT___ACTATGTCAGAGAGTCACAATGACCTTGCACAATAACAGTACAACCTCGCCTTTGTTTCCAAACATCAGCTCCTCCTGGATACACAGCCCCTCCGATGCAGGGCTGCCCCCGGGAACCGTCACTCATTTCGGCAGCTACAATGTTTCTCGAGCAGCTGGCAATTTCTCCTCTCCAGACGGTACCACCGATGACCCTCTGGGAGGTCATACCGTCTGGCAAGTGGTCTTCATCGCTTTCTTAACGGGCATCCTGGCCTTGGTGACCATCATCGGCAACATCCTGGTAATTGTGTCATTTAAGGTCAACAAGCAGCTGAAGACGGTCAACAACTACTTCCTCTTAAGCCTGGCCTGTGCCGATCTGATTATCGGGGTCATTTCAATGAATCTGTTTACGACCTACATCATCATGAATCGATGGGCCTTAGGGAACTTGGCCTGTGACCTCTGGCTTGCCATTGACTACGTAGCCAGCAATGCCTCTGTTATGAATCTTCTGGTCATCAGCTTTGACAGATACTTTTCCATCACGAGGCCGCTCACGTACCGAGCCAAACGAACAACAAAGAGAGCCGGTGTGATGATCGGTCTGGCTTGGGTCATCTCCTTTGTCCTTTGGGCTCCTGCCATCTTGTTCTGGCAATACTTTGTTGGAAAGAGAACTGTGCCTCCGGGAGAGTGCTTCATTCAGTTCCTCAGTGAGCCCACCATTACTTTTGGCACAGCCATCGCTGCTTTTTATATGCCTGTCACCATTATGACTATTTTATACTGGAGGATCTATAAGGAAACTGAAAAGCGTACCAAAGAGCTTGCTGGCCTGCAAGCCTCTGGGACAGAGGCAGAGACAGAAAACTTTGTCCACCCCACGGGCAGTTCTCGAAGCTGCAGCAGTTACGAACTTCAACAGCAAAGCATGAAACGCTCCAACAGGAGGAAGTATGGCCGCTGCCACTTCTGGTTCACAACCAAGAGCTGGAAACCCAGCTCCGAGCAGATGGACCAAGACCACAGCAGCAGTGACAGTTGGAACAACAATGATGCTGCTGCCTCCCTGGAGAACTCCGCCTCCTCCGACGAGGAGGACATTGGCTCCGAGACGAGAGCCATCTACTCCATCGTGCTCAAGCTTCCGGGTCACAGCACCATCCTCAACTCCACCAAGTTACCCTCATCGGACAACCTGCAGGTGCCTGAGGAGGAGCTGGGGATGGTGGACTTGGAGAGGAAAGCCGACAAGCTGCAGGCCCAGAAGAGCGTGGACGATGGAGGCAGTTTTCCAAAAAGCTTCTCCAAGCTTCCCATCCAGCTAGAGTCAGCCGTGGACACAGCTAAGACTTCTGACGTCAACTCCTCAGTGGGTAAGAGCACGGCCACTCTACCTCTGTCCTTCAAGGAAGCCACTCTGGCCAAGAGGTTTGCTCTGAAGACCAGAAGTCAGATCACTAAGCGGAAAAGGATGTCCCTGGTCAAGGAGAAGAAAGCGGCCCAGACCCTCAGTGCGATCTTGCTTGCCTTCATCATCACTTGGACCCCATACAACATCATGGTTCTGGTGAACACCTTTTGTGACAGCTGCATACCCAAAACCTTTTGGAATCTGGGCTACTGGCTGTGCTACATCAACAGCACCGTGAACCCCGTGTGCTATGCTCTGTGCAACAAAACATTCAGAACCACTTTCAAGATGCTGCTGCTGTGCCAGTGTGACAAAAAAAAGAGGCGCAAGCAGCAGTACCAGCAGAGACAGTCGGTCATTTTTCACAAGCGCGCACCCGAGCAGGCCTTGTAGAATGAGGTTGTATCAATAGCAGTGACAAAACGCACACATCAACCCACAGACCTTAGGAGGAGGAAGGCGAGGGCGGGGTGACTTCTGGTGATGATAAAAATGGTTTTATCACCCAGATGTGAAAGAAGCTGCCTGTTTACTGATCCATTGAATAAACCCATTTTAATAGAAAAAGTCAATACCAATTCAGCAAAAAGAAAAAAAAAACATACTACTGAATATAAAGAAATTTATTCTGAAATAGACTTTACGTGTTTTTTTCTTAAAGAGGAGAAAAATATTGCTTGACGGCAATTATATACCCAAAGTGATTTGCCTGGGTCCTTTAATTCCCATTAGCTTTGGAATCTCAGATGAGCATAGCTGACCCAGTTCCCACATTCTTCCCAAGGATCCCAAAAGTGGGAATCCAGACCCCAAGTGGAACACTGCAGGCTTACGAATCTGTGGTTCCAAAATTATTTCATACGTTGCAAAGCTGAATCTTCTTGTCCCAATAGAGCTTCCTGTCTTTTCTTTGGTGTGTTGTTAAACTCTATTTGTGGACTTGATTCTTGATTCTTGCAAAGTACTGTTTTGTGCAGTTCAAGTTTCGTACAAATAAAAATACTTAAGTATATATATATGTGTGAGTTCTGCACGCACACACATAGTGTATATAATATCATGGGAAACACTGAACTGGCAAATTATTCCTGCAACATACGCTTTCAGTACTTTGGTAACTGAAGTTCTCTAGGATCCTAATGCAACATTAACGTGAAATAAGCCCAGTGTAATGTTTTTGAAACCAGGGCTGTTTTCCACAGAGAGCAGCCAGGCCTTCCCAGCAGGTCTGTGCAGAGCGGACAGGCTCGTGAGTCAGCTGAGCGCCGTGGCTTCGCCAGACTTGGTGTTAAGCAACCTCCTTTGTTGATGTCTCAACAGAGCTAAATCGGGGCCCCTCTGAGCTCAAAGAATGAACCACATCCACACGTTTGAATTTAATCATCTAAATCTGAATGTTTCAGAACAAAATTTCTGCTATCTAAACTGCTTGAAACTCAATAATAGTGTCACGTTTGAATGTCATACACAGCAATATATATATATGTGTATATATATATATATGGCAAAGCAAAAAAAAAAACATGGTAAGAGAGAATGAAGGAGAACATTGTGTTTGATTCTTGCTGAATGGCACCTTCTCAAAGAAAATAGGGCTTGCACCTTTGTTAATCAGCTGTGGCCAGTGCTTTCTGGTGTTCATTGTGTAACCTTCACCCAGGAATAGGTGAGGTTTTAGGAAGTTACATGTCCTCTGAAGAAAGAATTACACTCTGAAAAGTAATGCTTCAAATTGATTTCCTTACCTTTTGGGAAAAAAAAAAAATTGTTTTTTTGCATTCTCCCTTGAATTGACCAAAATGTTAACTGTTTCATTTGGGGAGGGGATGGGGTGCTGCCATCATTGTCGTTGTTGTTGCTGCTGTAGCTGTTGGGGTTTCTTTTCCTGTTGCCGGGGCTGTTTGGGGAGAGGGAGGGGAGGGAGGTGGGAGGGCCGCGGAGATATCTTCCCTTTGTACAGGGCATTCGTGTTGTGAACCCAGAGCTGGGTAGAAGCTGCTTTTGTATTCAGTGTGAGGTGGTGTTTACAGACGACTTTGACAACAGTAGAAGTGTACTCAGTGGTGTCTGTGTATCTGAACTATTTAATTTCGTGTTATGTTTATATGCAGAAATATTTATGGATACTACACCAAGTGTTTATTTAATGTTGATAAATATGACTCTTCAGTCGTCAGCCATGGTGTCCTTTCAAAGTGATTCTTTAAGGTCCACTTGAGCAATGAATAGAGTATATTGGAGCTTTCCTGTGGCTAAGAAGAAGAAACATGTCATCCTGTTGGCATCACCAAGCACCTAACTCTTTCTAGGTAATAAAAAGTCAACGGTCACTTCAACGTAAATGTTTAAAACCACTCTTTAGTTAAATCTGATGGGAACTGAACAAAGCTCCACCATTGTGTCTGAAATCATTTTACACAGGGAAAAAAAAAAACAATCAGCATAATTGTAAGAATGATTTTTTTGGGCCCACATTCAACCAAAGAACAAGAAAGAAACAGACGATTTTCTAATATGTACACAGCAAACTACAGAATGTCATATTATCCACCTGTGAAACATCTAGTAAGCAATTGCATCTATATTTTATTTCTCAAGTTGGCCTGGCACTAATAAATATGTGAAAGCTTATTCAAGTGTCCCAGTACTTCAGCACTTCCCATCCTTTTGGAAACTCCTATCTTGCCTCCCTCCCAAAAGGGCTGTTTCTTTTATTAAAAAAAAAAAAGAAATAGAATTAAATTTGAGAAAAGGAGAAACCCTGAAATTTAACAGAACTTTGAGAGTCACTTCCAATCTCCTTAAACATGATTATCTCCTTATCCTTGTCCTTTTGTGATGCTAATAATAGCAGAAAAGGAACAAATCCAAGACTCTAGGTCTCCCTTTTTTGTTTTACTGGTTTTATTATAGAATTGTTTTTAAGCCTCTTATGGATGAAAGCTGCATTTAAATACTATCTACTGATTTTATAGAAAGGTATGTCCATTTCTTGGGTCACTTTCAGAGAAAGAAAACAAGCAAAATAGGTTCTTTTGAATATGAATAATTTAAAAGCATAATTGAAGATGTAGTGAGTATTTATAATTGGACCTTAGTTACACGTGCATTTCTCAAAGGGCTTGTCATTACAGGAGATATTCAGCACTTACCTAAGATCAAAATGTCTTCATCCCAAATTGGGAATCGAATTATTTCATGCCATATGCATGAGGTTTGCAGACATTTCAAGATTAGCCACTTTGCTTGAAAGAAGAAAATGATCAAACCTAAAATAAACTACACATGGAGAATCTCTCTCTCTCTCTCTGCCTCTCTCTCTCTCTTTCTCCCTCTTCTTCCTTCTCTCTCTCTCACAAGCACACACACACACACTCAATCTCCATTCTCCAGGCATTGCCAGATGGTTAGGAGAAGTGAGCTCTCTCTGGTCCCCTAGATCCCTCGGCTCTGCTCTCCTTTGCCCATCAGCTCCCTGTGGCCTCTATGCTAGTCCTCCCTATTCTCCTAGTCACCCTTTGCCTCTTAAGCCCAGCCTTGACTCTCTACATATTTTTCATTTCTCTTTACCCTTTAGTGTACAATAGTTGTAGACTCTGACGGAATGAAAACAAACAAGAAGCCTAAGCGTTAGACCCTGCTGTGGCTAAAGATCTAGAAGGCATATCAGTTTTCTCTGTCAGGCTTCCTACGTTGCCCTCGTGCAGGGCTCATTGCTCTGCAGAGCGCTGGAAGCCCCTTCATGTATCGAGAGAGAAGCTGGAGCACAGAGCTCTGATGCACAGTTGGCTGTTTCAGCTCTGACTCAGGGAGGAAAGAAGGATGCCAAGGCTCTGTCACAGCGGAGAAGTCTAATACCAGAGTGGCACAGAGAAGGATTCCAGGGATCAGTCAGGGTGTCCTGTACCTATCTGAGTAGAGATGATTCAAGGATGGGGACATATTCCAGGAAATTGCACAATCTTCCCCTGGCAGCTTCAGAGGACGAGTGAAAATAGTGCAGTATAGTCAAAGAAGCAATGAATTTAGGATGAGGAACCTGAAGTTTCTGGACCAGTTTGGTCACTGCTTAGTTACATGTCCTTAGGAATGCTTGTCACTTAACCTAAACTTTCTGGGTTTTATCCTCATTGCTCAAACTAAGCAACAACACCGAAGCTTCTCTAATTTGCCTTCTGATGCCAAATCGGTCAAAACTGAGGTCAGCAGCTACCATGACGAAAGTAAAATGGTATATTGGGTGAATGTTTGAAAATTTCAGATTTTATATTCTGTAAAGTTATTTACTTACTCTATTTCAACACCACAAAATCTTGAAATTTGGAAGGTAACCAAGGAAGCTTTGAAATTTGTTGGCAAACCCGGAGTAGTATGGTTTCAAATACCACTCCAACCCAGCACCTGAGGTCGGGCAAACTCACAAAATAGAGTTTCTAGGTAGCAGGTGTTTGCTTTGGTTTTGCAATAGCATTTCTCATAACAGAACTGAAACTGTATAGATTACAACACTCCAAAGTTATTTTTTTTTAACCTAAAGAACCCTACTTCTAGCACCTCCTCTGAAAGAATATTTTGCTCCAATACCACGTGCAACAAACTTATTTAGACAGTATCAACTCTAGCCCTTAATAGGTTCAAGGACAAGTTTACTGCTTCCTTTCTACACGCTTAAGTTACACTCTCTTCTCCTGTTCTGATGACTCTAAATCTTCAGCCTCTCCCAGCATTAATGTGTGAGTCAACATTGCAGACCTGAGAAAGGTTTCTAGAATGGTAACCCAATGTTCTTTAGAACTGGAGAATTCCATTTTCCTTTTCTGGCTTTAGTGTTAATGTCTGGGAAGGGAGGCTCATGATAAGAAAATAAAAATGAGAAAAGAAGATCTAGTTCATAAAATGACTATACCCCACGTAAGTTTGTAACTGCACAGTGTTTTGTTGTACGGCTCAGAAATGAGCAAGTGTTAGTATTATTAGGCACACATCACGTTCACAGCTTCGCGCAGAGACGGATAGTGTATTTGGATATATGGAAGTCATCCAAATGCGTTGCTAGAATATCAGGCCTATGTTTGTTCTGGTAGAACCACAGAGACTCACACAAAGTTCTGACCCTACCACTCTGGTCTGGGCTGAGACCACCCCAAAAAATCATCTAGAGAATCAAAGGGGCTCACATCTCAGTTGCATTCTATTTAAAAGATAAAGGGGCCATACTCTCCACTGCAAAGAAGCATTAGTAAAACTTCCCGCACCCAAATTATAATCCGGCAACCCTAGCTTCAGCTAAAAAGATTATCCCCAGAATCTAAAAGCTTACTATTGTTCTTTCTTGGAGTCCAAAATGCTTAGCAGTTCTGCAGTTCACATACAAAACTCAAAACTCTTTTTATCCTGTATTCTGTGAGTTCCTTGATGATAGTAATTGGGTCTTATTCATCACTCTGTATCCTGTGGCTCACACAGAATCTGGCAAATTGCATATATTCAATAAATGTTGAATATCTAATAACCTCCTTATTAATATAACAAATATTATCAACATTCTGTGCACATCAATGTCCCATGCTGCTACTGTAGTCAGGAGTTATTTGGCTGGGAAGTGGAAAGTGTTCACAAACATGATGCTTATCTAATAAAATATCACTGAGCAATAAGGAGAAATATTTTAAATAGATTTGAAGTTGTGAACAAATAATTTAGAGTCCAAAGAGGAAAAAGAAAATTAACTCTGTTTTTTATCCCTAGAACTCAGAAACTTTACTGGATTGGTCAACAAAGACAAACTTTTTATTGTATAAAACAGTAGAATTCATGGAAGGGATAATTCTTTTGGAACAGGCTTCTCGGTTACTTGCCTTAGTAAAAGAAGTATCTGGAGGGCCTGGAGAGTTCATAAACATAGTTTTCTGTGCAAGTGAAGATCTGTAGTTTGGCTTAAAAATCCTTGCATGTAGTTTTGCTTGGCGTGGAAAGTTATTAGGAGACAATCCTTTATCCTGTTCTGCAAGCAATCAAACACATGATCTCCCTTCTAGCCATTCCTCATCCAGTACATGGGCATTTCCAGCCTCCTACATGTAACACTTCAAACTTCCTCTGGGCGTCTGCTTAGAGCTATGTGATGGCCACAGTTTGGGCAAAGCCCTTCTTTCTTTTAAATATAGGAACTGTTACCAAGTTTGGTGCAGGCTTGAGGAATAATTACATAAAAATGGGCTTCCACGATGGTGAATCAGCATGCTGATTTCTCTTGGCAGGAAGCTCTCAGGGAAATGTCTGTGAATCATTTAAAGATGCTCTCTGGTGGATAGAGAAACCGCAGTCCAAAAACAGATGGGTGTATATTTGCTTTGTAAGCAAAGGGCATGTATCATACTCGCATCTAAAACAGTGTCCACATCTTTGCCAAAGGCACTGAATTTTACCTTTTTTTATTACCTCGTGGCCAGCACTTCCTCAGTAGGCATTTCAGGTGTGTCACAAACCATGTTCATTTTTAATCTTGAAAAAGTCAATCGTCTGTAGTCTGTACTATAAAATGATGCCTGCAACTTTGTGGTGAATATTATCCCCAAGTTAACAGTGAAATAAGTAAATAAAACTATTATTGAACAAAGA)$ . 20BR007 ENSG00000157985.19 ENSG00000235726.7 +/+ -/+ chr2:235494849 chr2:234900051 CDS/splice-site intron duplication/5'-5' 1 10 0 4 21 high out-of-frame . . . . ENSG00000157985.19 ENSG00000235726.7 ENST00000304032.13 . downstream upstream . ^(GGAGCCCTGCGTGCCAGGGAGGGGGCCGGCCGGGCAGGCGGCGGGCGGCGCTCGGAGCGGGCTCCGCGGCTTGCAAGGCGCCTGCGACTCGGTCCCAGGTCGGCGGGCGGCGCACGGCGGGCTCGCGCGGGGGCCCCGGCGCGCCGGGCGGCGCAGTACGCAGCGCGCGGACCCACGCCACGGCCAGGAGCCCAGAGCAGCGCGGCCACACTGCCCAGGGGTCGGCCCTCGGCCCCGGCGCTCGGAGCGCGGCGGCTGCCTGGGCTTTAATGGCTGCTCCGCGGAGCAGCGCCTAGGGCTGGAAGGCGGCTGCGGCTCAGGAAGTCACCCGAGCAAGCCTCCTTCGGGGCCGGCCGCACCCGCCGCGGCGCGCTCCATGGGGGCGCGCTCCCCCCGGGCGGCCCGCTGACCCGGGACGCCGGGGCCCGCTCGCTCGCCGGCCGCGCGTCCCGGCCATGAACTGAGCCCGCGGGCCAGCCCCGCGCCTGCTCCGCCCGCGCCTTTCTTCTCGCGCCTCCTCCGCCCGCCGCCGGCGGGCCCGGCTCCCCGGGGGCTGCGGCGCCCCGGGCTCGGCGGCCCGCGGGCCCCGGGGCGCGGGGCGGCGGCGGCGGGGGGCGCGCGGCTCCGGGCGCGGCGCCTGCACCATGAACTACCAGCAGCAGCTGGCCAACTCGGCTGCC)ATCCGGGCCGAGATCCAGCGCTTCGAGTCGGTCCACCCCAACATCTACTCCATCTACGAGCTGCTGGAGCGCGTGGAGGAGCCGGTGCTGCAGAACCAGATCCGGGAGCACGTCATCGCCATCGAAG|CACAAATGAGAAAAAGAAGTGAGAAGGTTTGGAACTTTCTGGAAAGAAGTCACTTAG___ATCTCCGGATTCAAGAATTTGAATCCAGGCAAAGAAGCAAGAAAACAGACATGCAACCCAACCAAGAGATTGTGCTTGAGCATGCAAGAACTGATTGAACGCGTACCTGCCATGAGACAGGGATTGACCAG___GCTATGCCATTCATCTACAAGTTTTTCAAATTATCAAAAATCTCC MNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERVEEPVLQNQIREHVIAIE|aqmrkrsekvwnflershldlriqefesrqrskktdmqpnqeivlehartd* 20BR007 ENSG00000140718.21 ENSG00000274698.1(10489),ENSG00000199263.1(11746) +/+ ./- chr16:53844298 chr16:68462807 CDS/splice-site intergenic inversion 3 1 1 72 5 high out-of-frame . FTO_catalytic_domain(100%)| . . ENSG00000140718.21 . ENST00000637969.1 . downstream downstream . ^(CGGTGGCGAAGGCGGCTTTAGTGGCAGCATGAAGCGCACCCCGACTGCCGAGGAACGAGAGCGCGAAGCTAAG___AAACTGAGGCTTCTTGAAGAGCTTGAAGACACTTGGCTCCCTTATCTGACCCCCAAAGATGATGAATTCTATCAGCAG___TGGCAGCTGAAATATCCTAAACTAATTCTCCGAGAAGCCAGCAGTGTATCTGAGGAGCTCCATAAAGAGGTTCAAGAAGCCTTTCTCACACTGCACAAGCATGGCTGCTTATTTCGGGACCTGGTTAGGATCCAAGGCAAAGATCTGCTCACTCCGGTATCTCGCATCCTCATTGGTAATCCAGGCTGCACCTACAAGTACCTGAACACCAGGCTCTTTACGGTCCCCTGGCCAGTGAAAGGGTCTAATATAAAACACACCGAGGCTGAAATAGCCGCTGCTTGTGAGACCTTCCTCAAGCTCAATGACTACCTGCAGATAGAAACCATCCAGGCTTTGGAAGAACTTGCTGCCAAAGAGAAGGCTAATGAGGATGCTGTGCCATTGTGTATGTCTGCAGATTTCCCCAGGGTTGGGATGGGTTCATCCTACAACGGACAAGATGAAGTGGACATTAAGAGCAGAGCAGCATACAACGTAACTTTGCTGAATTTCATGGATCCTCAGAAAATGCCATACCTGAAAGAGGAACCTTATTTTGGCATGGGGAAAATGGCAGTGAGCTGGCATCATGATGAAAATCTGGTGGACAGGTCAGCGGTGGCAGTGTACAGTTATAGCTGTGAAG___GC)CCTGAAGAGGAAAGTGAGGATGACTCTCATCTCGAAGGCAGGGATCCTGATATTTGGCATGTTGGTTTTAAGATCTCATGGGACATAGAGACACCTGGTTTGGCGATACCCCTTCACCAAGGAGACTGCTATTTCATGCTTG|CCTTCAACAAGGAAGACAGACATGAGgCGTTTCTTTCATGCCCCCAGGACACAGAAGTGGGCCATATTCCCCCTGCAGTCTCTAAGAAAATT___GAGTAAGACAAACTGGATACCAGAACCTTTGGAGTCAAAGTAAACAAAGAATTG MKRTPTAEEREREAKKLRLLEELEDTWLPYLTPKDDEFYQQWQLKYPKLILREASSVSEELHKEVQEAFLTLHKHGCLFRDLVRIQGKDLLTPVSRILIGNPGCTYKYLNTRLFTVPWPVKGSNIKHTEAEIAAACETFLKLNDYLQIETIQALEELAAKEKANEDAVPLCMSADFPRVGMGSSYNGQDEVDIKSRAAYNVTLLNFMDPQKMPYLKEEPYFGMGKMAVSWHHDENLVDRSAVAVYSYSCEGPEEESEDDSHLEGRDPDIWHVGFKISWDIETPGLAIPLHQGDCYFML|afnkedrheaflscpqdtevghippavskkie* 20BR007 ENSG00000103494.14 ENSG00000280261.1(11081),ENSG00000237901.1(3733) -/- ./- chr16:53610967 chr16:62353638 CDS/splice-site intergenic duplication 2 1 1 30 18 high out-of-frame . C2_domain(100%),First_C2_domain_of_RPGR-interacting_protein_1(100%)| . . ENSG00000103494.14 . ENST00000262135.9 . upstream downstream mismatches(1) ^(ATGTTTCTCCCGTGCTCCTCTCGGCCAGCCGCCCGCCACGCTGTCGGCGCTATAGCAACGGTAGCTAGCTGCAGGGCCAGTGGCACG___CTAGGCCATGTCTGGTCCAACTGATGAGACTGCAGGAGACTTGCCTGTGAAAGATACAGGTCTAAACCTCTTTGGAATGGGAGGGTTACAAG___AAACTTCAACAACACGGACAATGAAGTCTCGCCAGGCAGTGTCACGTGTCAGTCGTGAGGAACTGGAAGACAGATTTTTGCGTTTGCATGATGAGAACATTTTACTTAAACAGCATGCCCGCAAGCAGGAGGATAAAATTAAAAG___AATGGCCACCAAGTTAATACGGCTAGTTAATGACAAGAAAAGATATGAGCGGGTTGGTGGCGGCCCCAAGCGGCTGGGACGAGATGTGGAAATGGAAGAAATGATTGAGCAGCTGCAAGAGAAAGTTCATGAGCTTGAAAAACAAAATGAAACCCTCAAAAACAGACTGATTTCAGCCAAACAGCAACTTCAAACCCAGGGTTACAGGCAAACTCCATACAATAATGTACAATCTCGTATTAACACTGGGCGTAGAAAAGCAAATGAAAATGCTGGTTTACAGGAATGCCCCAGGAAAG___GTATAAAATTCCAAGATGCAGATGTAGCAGAAACTCCACATCCCATGTTTACAAAATATGGCAACAGTTTACTTGAAGAAGCCAGAGGAGAAATAAGAAATTT___AGAAAACGTTATTCAGTCACAAAGAGGCCAGATAGAGGAGTTAGAGCACTTGGCTGAGATCCTGAAAACTCAGTTGAGGAGAAAAGAAAATGAAATTGAGTTATCTCTTCTTCAGCTTCGAGAACAGCAAGCTACAGATCAAAG___GTCAAATATTCGGGACAATGTAGAAATGATTAAGCTTCATAAACAGCTAGTAGAGAAAAGCAATGCTCTTTCAGCAATGGAAGGAAAATTTATTCAGCTTCAAGAG___AAGCAAAGAACTCTCAGAATCAGCCACGATGCTTTGATGGCAAATGGGGATGAATTAAACATGCAACTTAAAGAGCAGCGTTTAAAATGCTGCAGTCTTGAGAAACAATTACATTCTATGAAGTTTTCTGAAAGAAGAATAGAAGAG___CTGCAGGATAGAATTAATGATTTAGAAAAGGAACGGGAACTTTTAAAGGAAAACTATGATAAACTTTATGACAG___TGCCTTCAGTGCTGCCCATGAAGAGCAATGGAAGTTAAAGGAGCAACAGCTGAAAGTGCAGATTGCTCAGCTCGAGACTGCCTTGAAGTCTGACTTAACAGACAAAACTGAAATCCTTGACAGATTAAAAACTGAAAGAG___ATCAAAATGAAAAACTCGTTCAAGAGAATAGAGAACTACAGTTACAGTATCTGGAACAAAAGCAACAACTTGATGAACTTAAAAAACGCATAAAATTGTACAACCAG___GAGAATGATATTAATGCTGATGAATTGAGTGAAGCTCTCCTACTTATAAAG___GCTCAAAAAGAACAAAAAAATGGAGACCTTTCCTTTTTAGTGAAAGTAGATAGTGAAATTAATAAAGATCTAGAACGCTCTATGAGAGAGCTGCAAGCAACTCATGCAGAAACGGTGCAAGAGCTGGAAAAGACAAGAAACATGCTAATTATGCAACACAAAATTAATAAAGATTATCAG___ATGGAGGTTGAGGCAGTGACCCGTAAGATGGAAAATTTGCAGCAAGATTATGAACTCAAAGTGGAACAGTATGTTCATCTTCTTGATATCAGGGCTGCACGTATCCATAAACTAGAAG___CCCAATTAAAGGATATTGCCTATGGCACCAAGCAGTACAAATTTAAACCAGAAATCATGCCAGATGACTCTGTTGATGAATTTGATGAAACCATCCACTTAGAACGAGGCGAAAATCTATTTGAAATCCATATCAACAAAGTAACCTTTTCTTCTGAAGTTTTACAGGCATCTGGAGATAAAGAGCCTGTCACTTTCTGTACCTATGCTTTCTATGATTTTGAACTACAGACAACTCCCGTAGTGCGAGGCCTTCATCCCGAATATAACTTCACTTCTCAATATCTTGTTCATGTTAATGACTTATTTTTGCAATATATTCAGAAGAATACTATCACCCTTGAGGTCCACCAGGCTTATAGCACAGAATATGAAACAATTGCAGCATGTCAATTAAAATTTCACGAAATTCTTGAAAAAAGCGGCCGAATATTTTGTACAGCAAGTTTGATTG___GAACAAAAGGAGACATCCCAAATTTTGGCACAGTGGAATACTGGTTCCGATTAAGAGTTCCCATGGATCAAGCAATTCGACTTTATCGAGAAAGGGCAAAGGCTTTGGGGTATATAACATCAAATTTTAAGGGGCCAGAGCATATGCAGTCG___TTAAGTCAGCAAGCACCCAAAACTGCTCAACTCAGTTCTACAGATTCCACAGATGGCAACTTAAATGAACTTCACATTACAATAAGATGTTGCAACCACCTGCAGTCCCGAGCAAGCCACCTGCAGCCACACCCATATGTTGTGTACAAGTTTTTTGATTTTGCAGACCATGATACAGCTATCATTCCCAGTAGCAATGATCCACAGTTTGATGATCATATGTATTTCCCAGTGCCAATGAATATGGACTTGGATCGATACCTTAAGTCAGAGTCTCTGAGTTTTTATGTTTTTGATGATAGTGATACCCAGGAGAATATTTACATAGGAAAAGTCAATGTGCCTCTGATTTCGTTGGCACATGACAGGTGTATCTCAG___GAATATTTGAGTTAACAGACCATCAAAAGCATCCTGCTGGCACCATCCATGTTATATTGAAATGGAAATTTGCTTACCTTCCACCAAGTGGATCAATAACAACTGAAGACTTAGGAAATTTCATTCGCAGCGAAGAGCCAGAAGTTGTTCAAAGACTTCCTCCAGCATCCTCTGTTAGCACACTAGTTTTA___GCACCAAGACCTAAACCAAGACAACGTTTAACACCTGTAGATAAGAAGGTATCTTTCGTGGATATCATGCCACATCAGAGTGAT___GTTTCACAAGAAGGCAGTGTAGATGAGGTAAAAGAGAATACTGAGAAAATGCAGCAAGGAAAAGATGATGTGTCTTTACTATCTGAAGGTCAGCTTGCAGAACAAAGCTTGGCATCTTCTGAAGATGAAACAGAAATAACAGAGGACTTGGAACCAGAAG___TTGAAGAGGACATGTCAGCTTCTGACAGTGATGACTGTATTATTCCAGGTCCTATCTCCAAGAATATCAAACAG___CCATCAGAAAAAATTCGGATTGAGATCATAGCTCTAAGCCTTAATGATTCTCAAGTAACCATGG)ATGACACTATCCAACGGCTGTTTGTTGAGTGTCGATTCTACAGTCTTCCTGCTGAAGAGACACCCGTGTCACTTCCAAAACCCAAGAGTGGGCAGTGGGTCTACTATAACTATAGCAATG___TGATCTACGTGGATAAAGAAAACAACAAAGCAAAGAGAGACATCTTAAAAGCTATACTACAAAAACAAGAGATGCCTAATAGAAG|TGATGCATTCTGCCTTCCAAAACAAAGATTCATAGTATCCTCTGGGGTTATCATTGTCATCATCATCATCATCATCATCATCATCATCATCA?CATCA?CATAATTATCATCGTCGTCATCATTACTAAGAAAATAACAAACATATTTCAG...GCTTCACTTCGATAGCCAATTAGTAGTTAGTAGTTCTTTTTCCTTCATATGTGTTGTATATTTCTCAAAGTGATTTGACTGGATTTCTCTCCACCAGGCCATCTGTGCCTGAACTCCATTGTGTTTTACTTTGGCCCATTTGGATTTTTC MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSLLEEARGEIRNLENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLRISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKENYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKLVQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENLQQDYELKVEQYVHLLDIRAARIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHLERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTYAFYDFELQTTPVVRGLHPEYNFTSQYLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKFHEILEKSGRIFCTASLIGTKGDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLSQQAPKTAQLSSTDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDDHMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELTDHQKHPAGTIHVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAPRPKPRQRLTPVDKKVSFVDIMPHQSDVSQEGSVDEVKENTEKMQQGKDDVSLLSEGQLAEQSLASSEDETEITEDLEPEVEEDMSASDSDDCIIPGPISKNIKQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYSLPAEETPVSLPKPKSGQWVYYNYSNVIYVDKENNKAKRDILKAILQKQEMPNRs|dafclpkqrfivssgviiviiiiiiiiiii?i?iiiivviitkkitnif 20BR007 ENSG00000139687.15 ENSG00000223432.1(97359),ENSG00000223540.1(409) +/+ ./+ chr13:48342714 chr10:121713198 CDS/splice-site intergenic translocation 0 2 1 43 2 high out-of-frame . Domain_of_unknown_function_(DUF3452)(100%)| . . ENSG00000139687.15 . ENST00000267163.5 . downstream upstream mismappers(1) ^(TTTCCCGCGGTTGGACGCGGCGCTCAGTTGCCGGGCGGGGGAGGGCGCGTCCGGTTTTTCTCAGGGGACGTTGAAATTATTTTTGTAACGGGAGTCGGGAGAGGACGGGGCGTGCCCCGACGTGCGCGCGCGTCGTCCTCCCCGGCGCTCCTCCACAGCTCGCTGGCTCCCGCCGCGGAAAGGCGTCATGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACCGCCGCCGCTGCCGCCGCGGAACCCCCGGCACCGCCGCCGCCGCCCCCTCCTGAGGAGGACCCAGAGCAGGACAGCGGCCCGGAGGACCTGCCTCTCGTCAG___GCTTGAGTTTGAAGAAACAGAAGAACCTGATTTTACTGCATTATGTCAGAAATTAAAGATACCAGATCATGTCAGAGAGAGAGCTTGGTTAACTTGGGAGAAA)GTTTCATCTGTGGATGGAGTATTG___GGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCAGTTGACCTAGATGAGATGTCGTTCACTTTTACTGAGCTACAGAAAAACATAGAAATCAG|TgGAGATGGAGTTTCACCATGTTgGCCACGCTGATCTCAAACTCTTGACCTCAAATGATCTGCCCGCCTCGGCCTCTTAAACTGCTAGGATTACAGGCATGAGCCGTCGCACCAGGCCAATCTTTGTATCTAATACGAAGATGCAATGCTCTTCAAAGGCTTTTGCCCAGATAGCTGCATAAGCAACGAGAACAGGTTAACAAGCACTCAGCCTTCAAGGCTGGGCCACCCTAAGC MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEIs|gdgvspcwpr* 20BR007 ENSG00000090316.16 ENSG00000196810.5 +/+ +/+ chr4:1289982 chr4:1287605 CDS/splice-site exon/splice-site duplication 0 57 0 11 174 medium out-of-frame . . . . ENSG00000090316.16 ENSG00000196810.5 ENST00000303400.9 ENST00000578730.1 downstream upstream duplicates(5) ^(G)CTAATGTTTTGGCCGCTTCAAGATGGCGGTGCAGGAGTCGGCGGCTCAGTTGTCCATGACCCTGAAGGTCCAGGAGTACCCGACCCTCAAG|GAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTTACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAG___ATCTTTAGATAAGCACTCTTTCAACCAAATGCCAATCAGAAAATCTTTGAATCCACCTGTGAGCTGGAAGCCCCGCTGTGCTTTGTGTTGTCCTGCCTTTTCGGACCAATGTAAATCTCACATGTACTGATTGATGCCTACATCTCCTTAAAACGTATAAAATCAAGC(TGTAACCCAACCACCTTGGGCATGTGTTCTGAGGACCTCTTGAGGCTGTGTCACTGGTCATGATCCTTAACCTTGGCAACATAAACTTCTAAACTGAT)$ MAVQESAAQLSMTLKVQEYPTLK|esrcvtqagvqwcdlgllqplpprfk* 20BR007 ENSG00000120594.17 ENSG00000148481.14(90351),ENSG00000252537.1(54950) +/+ ./- chr10:20282313 chr10:15950858 3'UTR intergenic inversion 2 6 0 32 7 medium stop-codon . . . . ENSG00000120594.17 . ENST00000377252.5 . downstream downstream . ^(AGACTGCTGCAGCCCTAACCTTCCCAGGGCTCAGCTCTTTGGAGCTGCCCATTCCTCCGGCTGCGAGAAAGGACGCGCGCCCTGCGTCGGGCGAAGAAAAGAAGCAAAACTTGTCGGGAGGGTTTCGTCATCAACCTCCTTCCCGCAAACCTAAACCTCCTGCCGGGGCCATCCCTAGACAGAGGAAAGTTCCTGCAGAGCCGACCAGCCCTAGTGGATCTGGGGCAGGCAGCGGCGCTGGCTGTGGAATTAGATCTGTTTTGAACCCAGTGGAGCGCATCGCTGGGGCTCGGAAGTCACCGTCCGCGGGCACCGGGTTGGCGCTGCCCGAGTGGAACCGACAGTTTGCGAGCCTCGGCTGCAAGTGGCCTCTCCTCCCCGCGGTTGTTGTTCAGTGTCGGGTGAGGGCTGCGAGTGTGGCAAGTTGCAAAGAGAGCCTCAGAGGTCCGAAGAGCGCTGCGCTCCTACTCGCGTTCGCTTCTTCCTCTTCTCGGTTCCCTACTGTGAAATCGCAGCGACATTTACAAAGGCCTCCGGGTCCTACCGAGACCGATCCGCAGCGTTTGGCCCGGTCGTGCCTATTGCATCGGGAGCCCCCGAGCACCGGCGAAGGACTGGCGGGTGGGGTAGGGAGGTGGCGGCGGCGGCATGGCGAGGTTCCCGAAGGCCGACCTGGCCGCTGCAGGAGTTATGTTACTTTGCCACTTCTTCACGGACCAGTTTCAGTTCGCCGATGGGAAACCCGGAGACCAAATCCTTG___ATTGGCAGTATGGAGTTACTCAGGCCTTCCCTCACACAGAGGAGGAGGTGGAAGTTGATTCACACGCGTACAGCCACAGGTGGAAAAGAAACTTGGACTTTCTCAAGGCGGTAGACACGAACCGAGCAAGCGTCGGCCAAGACTCTCCTGAGCCCAGAAGCTTCACAGACCTGCTGCTGGATGATGGGCAGGACAATAACACTCAGATCGAG___GAGGATACAGACCACAATTACTATATATCTCGAATATATGGTCCATCTGATTCTGCCAGCCGGGATTTATGGGTGAACATAGACCAAATGGAAAAAGATAAAGTGAAGATTCATGGAATATTGTCCAATACTCATCGGCAAGCTGCA___AGAGTGAATCTGTCCTTCGATTTTCCATTTTATGGCCACTTCCTACGTGAAATCACTGTGGCAACCGGGG___GTTTCATATACACTGGAGAAGTCGTACATCGAATGCTAACAGCCACACAGTACATAGCACCTTTAATGGCAAATTTCGATCCCAGTGTATCCAGAAATTCAACTGTCAGATATTTTGATAATG___GCACAGCACTTGTGGTCCAGTGGGACCATGTACATCTCCAGGATAATTATAACCTGGGAAGCTTCACATTCCAGGCAACCCTGCTCATGGATGGACGAATCATCTTTGGATACAAAGAA___ATTCCTGTCTTGGTCACACAGATAAGTTCAACCAATCATCCAGTGAAAGTCGGACTGTCCGATGCATTTGTCGTTGTCCACAGGATCCAACAAATTCCCA___ATGTTCGAAGAAGAACAATTTATGAATACCACCGAGTAGAGCTACAAATGTCAAAAATTACCAACATTTCGGCTGTGGAGATGACCCCATTACCCA___CATGCCTCCAGTTTAACAGATGTGGCCCCTGTGTATCTTCTCAGATTGGCTTCAACTGCAGTTGGTGTAGTAAACTTCAAAG___ATGTTCCAGTGGATTTGATCGTCATCGGCAGGACTGGGTGGACAGTGGATGCCCTGAAGAG___TCAAAAGAGAAGATGTGTGAGAATACAGAACCAGTGGAAACTTCTTCTCGAACCACCACAACCGTAGGAGCGACAACCACCCAGTTCAGGGTCCTAACTACCACCAGAAGAGCAGTGACTTCTCAGTTTCCCACCAGCCTCCCTACAGAAG___ATGATACCAAGATAGCACTACATCTAAAAGATAATGGAG___CTTCTACAGATGACAGTGCAGCTGAGAAGAAAGGGGGAACCCTCCACGCTGGCCTCATCATTGGAATCCTCATCCTGGTCCTCATTGTAGCCACAGCCATTCTTGTGACAGTCTATATGTATCACCACCCAACATCAGCAGCCAGCATCTTCTTTATTGAG___AGACGCCCAAGCAGATGGCCTGCGATGAAGTTTAGAAGAGGCTCTGGACATCCTGCCTATGCTGAAGTTGAACCAGTTGGAGAGAAAGAAGGCTTTATTGTATCAGAGCAGTGCTAAAATTTCTAGGACAGAACAACACCAGTACTGGTTTACAGGTGTTAAGACTAAAATTTTGCCTATACCTTTAAGACAAACAAACAAACACACACACAAACAAGCTCTAAGCTGCTGTAGCCTGAAGAAGACAAGATTTCTGGACAAGCTCAGCCCAGGAAACAAAGGGTAAACAAAAAACTAAAACTTATACAAGATACCATTTACACTGAACATAGAATTCCCTAGTGGAATGTCATCTATAGTTCACTCGGAACATCTCCCGTGGACTTATCTGAAGTATGACAAGATTATAATGCTTTTGGCTTAGGTGCAGGGTTGCAAAGGGATCAGAAAAAAAAAATCATAATAAAGCTTTAGTTCATGAGGGATCGACACCTTTGGTTCAAATGTTCTCTGATGTCTCAAAGATAACTGTTTTCCAAAGCCTGAACCCTTTCACTCAAAAGAGCAATGATGAATGTCTCAAGATTGCTAAGAAAAACAGCCCATGCAAGAGTGAGAACAAACACAAAATAAGAGATTTTCTACATTTTCAAAACAGATGTGTGGCAAAAGGATGTTGTTTTTCTGGTCTAGATCCATCTGTACCAACAAGTTCATCACTTTACAGAACGAATCTTTTTATCCGTACAGGAGGTTCAAACCATGTCTGCCTCTTCCTTTGTAATGAATGACCTTTCTATGAGCTGTGACAAAATTTCCGAACAATTAACTAAGGATTTGGGAAGAGGGGGTGGCAAACGGGGCTTTCTGTTTTCCTGCCTCAGCATGAAAACATCTGATTTATGCTTTATGGAAGCCTTACCTCCAATCCCCAACTGTTAAGTCCCATGAAACCACAGTTGCTCTGGGCTGATGGAAACAAAAGGAAACAGTATGAAGAGTTCCTTAATCATTTTTGAAACAAAAATGTTAAGGGATTTTAAACATATGATTATTTTTAATTTTATGCCTTTTCAGTACTAAACACCCATTTCATTGCTGATTCCTGTCTAAGAAGCCATTCACGTCAGCATGGCGATAGAAAGAATGAAAAAACCCTGCTGAATCATACAGTAATTTTCTTTAAAGCACATAGTAGTTACATAAATATATATATATAAATATATTTTTGTTTATAACTAACACAAGGCAGGATCTTGTGACTCTAAGAGTGCGTTTTGTCATCAAGGCAAAACAGATGCAAGATGCATCACTGCATTACTTCCATAGAGTTGTAAAATAATCCTTAATATTAGAATATTTTTCTGTCACTTAGCAAAAGTGGTTCAGTTCATTGCCGCGCCCATCATGTTCTTGACTATTTGATCCACTTTTTCGTTTATGTCAACCCCTTCCCTCTCTGGCTAAATAAAGTGGATGCAGAAAGCTCCTTAAATGGAGATATCGATTGCCTTGGAATCACAATCCTGATTTTGAAAATTCCTCATGAATGAAGAAAGGAATGGCATCCCTTGAGAAGGAAAGTGGTTAATATACATACTGAGCTCCTAAAGTTTAAATTCAGGTACTGAGTGTACAATTTCACCAACATTCTAACCCATGAAACTTTTACACTCTGTGCCAAGAAACTGTTGGCTTTTGTAAGGTACAGTGCTCAACATTTGCAGATTCAGGTCTCAAGAAGCAGAGATGTCTCATAAGCAGCATTTTCCCAACAGTTTAGCATCTGTACACATCTGCCTTGGTCATCAGTCCACTCACAGAGTACCATACTTTATCATCACAAGTGTCTGACGTGAACGAATGCCATTTTCTATTCCATATATTTTGCTTTACAATTTTAAGTATTTGATGAAGATGGTAACTTTTTCCTAACTTAGTTAACTATTAAAAAAAATTTTGAAAAGCAAGGTGATTGAAGGATTGTGATGACAATCTCTTTGCAGCAGCTATGTATGGTTTATGTGAAGTATCCCCACTTATTCTTGTGGAGCAGGTTTGGTGAGACAGCAATAACCAAATGACATGCCAATATTACTGGTGCAACTGGTATTCTACAAATGCATAAGGAACACATAGACGACTTCCTTTTAGGATAAAATGATGCTTCTTTCACTACCTTTTGTGGTAGCTGTGGCTTCCAATAGCAACTGTTTGACAGTTATATAAATCTTGCATGTGTATTCTTAGTTTGTGTCCCTTAAGTACTACTTAATTCTCAAGTAGTAATGTTATTCTTATACCCTTCAGCGTTCTATTTTGATTCAAAACAATTGATTCAAAACAATTTTGAATCAATTTTCTATTTTGATTCAAAACAATTGATAATTCTGTAAAAAAACATAAACACTGAATTCTTCAGTGAACCAAAGCAACAAATAATAGAGAAAACTTCTTGAAACTGGAGTGTGGGAAAACTTCTTAACAGAACTAAGA)GTTAAAGGTAGTGAGAAGTGTGTGGTGTGTGAATTCTTTAGTGGTAAGGGGAAATGTGGGCTAAATCCTTTTCTTTCATGAAACTCTCATTCTATTTTATATTTCTGGTTTGTTC|AATACCATTTCCTTCTCTATAATATGTGGATGATAAAATCCACTgCTTATCCCTTTAAGAATATTAAACTACCAGGTATCTGTTGAAATGATAAAGTTCTATAAGATGAGGGGGAATCCCTACATTTACAATGGAAGCAAGAGAAGAGGACTATCTGCCTCAGAGAAAGGTTGAGGAATAACTGACAGATTTAAAGCCATTTGGGCCAGATTAATGTGAGACCTTACCCAGGGCTCGAATACAGTCCTCTGCTCAACAAGAGAAATCAGAG . 20BR007 ENSG00000117155.16 ENSG00000237480.3 -/- +/- chr1:84666138 chr1:106059305 CDS intron duplication/5'-5' 2 3 0 129 3 medium out-of-frame . . . . ENSG00000117155.16 ENSG00000237480.3 ENST00000342203.7 . upstream downstream mismatches(1) ^(CCTCGGAAACCTGCGGAGGCCGGGAGGCGGCTGCAAGGGGCGGGGAAGGCGGGAGCCCGCAGCGGAGGAGGGGCCGCGGGCGGGAGGCGCTGCGAGGCGCTGCTGGCCCTCGGGCTGCGGGAGCCGGGCTAGGACGCCGAGCGGTGACTCCCCGCCGCTCCCGGGGGCCGTGACG___GAGATGCCTACATAGAAGAGTGACAGCAGCTAGACTAAATGTTTAACTGCTGAACTAGTTCCTCAGGTATCCTGGCTCTAGAGATTGCTATGGGAGATTGGATGACTGTTACAGATCCAGGTCTGTCTTCAG___AAAGCAAAACTATCTCTCAATATACCTCAGAAACAAAGATGTCTCCATCAAGTTTATACTCACAGCAAGTGCTATGTTCTTCAATACCTTTATCGAAAAATGTGCACAGTTTTTTCAGTGCCTTCTGCACAGAAGATAATATTGAACAGAGTATCTCATATCTTGATCAG___GAATTGACTACTTTTGGTTTTCCTTCATTATATGAAGAATCCAAAGGTAAAGAGACAAAGAGAGAGTTAAATATAGTAGCTGTACTAAATTGTATGAATGAGCTGCTTGTGCTTCAGCGGAAGAACCTTCTAGCTCAGGAAAATGTGGAGACACAGAATTTGAAGCTGGGAAGTGATATGGACCATCTACAGAGCTGCTACTCAAAACTTAAG___)GAACAACTGGAAACCTCCAGGAGGGAAATGATTGGGCTTCAGGAAAGAGACAGACAGTTACAATGTAAGAACAGGAATTTGCATCAGCTACTAAA|ACACTCAGAATGAAATGTAGGAGTAAATCTTCTGACTTGTGGTTAGGCAGTAATTTCTTACATATGCTAATCTTCTTGAAAACTGTGTAGATTATTTAGCAATATATTTAAAATGAAAAGATAAAATGTATTTGCATCTTATATGGCTAAATAACTTAAAGCATTGGGCTCAATATGTATGATTCCTTAGCTGGAAAATACACTTGTGTGTTTTCTCCCCAAAG MGDWMTVTDPGLSSESKTISQYTSETKMSPSSLYSQQVLCSSIPLSKNVHSFFSAFCTEDNIEQSISYLDQELTTFGFPSLYEESKGKETKRELNIVAVLNCMNELLVLQRKNLLAQENVETQNLKLGSDMDHLQSCYSKLKEQLETSRREMIGLQERDRQLQCKNRNLHQLLk|hse* 20BR007 ENSG00000207304.1 ENSG00000115839.18 -/- +/+ chr11:93732257 chr2:135137348 exon intron translocation 3 1 0 308 41 medium . . . . . ENSG00000207304.1 ENSG00000115839.18 ENST00000384574.1 . upstream upstream . ^(TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCATCGTTGGTTTTCTTGGCTTTGTGCTTGTTAAACCTGGT)ATTTCTACTGATACAGTATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCAC|CTACAGTAAAAAGGACCCTAAAGTAAATTGGTTGAAGAAaTTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCATATTAAAAcGAGATGACAGAAGCCAAAgTAA . 20BR007 ENSG00000207304.1 ENSG00000121988.18 -/- -/+ chr11:93732257 chr2:135137348 exon intron translocation/5'-5' 3 1 0 308 41 medium . . . . . ENSG00000207304.1 ENSG00000121988.18 ENST00000384574.1 . upstream upstream . ^(TGCACTGCATGGTATCTGCACTCAGCAGTTTACACCTGCTAGGGTGTTCAAAGGTCAGTGCTATAGAAATTCAGTATCTGGCATCGTTGGTTTTCTTGGCTTTGTGCTTGTTAAACCTGGT)ATTTCTACTGATACAGTATTTGTGTAGGTTTCTCAGAGTGTTCAGTTTGATATACTCTAAAATAGTAAGCAATGCTTTTTTTTCCAGGGTGTCAAATTGAGAACCAGGTAGATCCCCACCAC|CTACAGTAAAAAGGACCCTAAAGTAAATTGGTTGAAGAAaTTAGATCCCAAAGATTCTTGGTGAATTTTGAAGTCTTCATCAGTATATCCATATTAAAAcGAGATGACAGAAGCCAAAgTAA . 20BR007 ENSG00000203879.12 ENSG00000102119.11(111),ENSG00000280195.1(15244) +/+ ./- chrX:154439140 chrX:154381634 CDS/splice-site intergenic inversion 3 0 0 99 1 medium out-of-frame . GDP_dissociation_inhibitor(100%)| . . ENSG00000203879.12 . ENST00000447750.7 . downstream downstream . ^(ATCTTTGGTCCAGTGCGGTGGCGGCGGCGGCGGTGGCGGCGGCGACTGCTGCGGTGAAGGAGGAGGAGGAGCCGAGCGGGCGCTGGCACCGAGGCCTGACCATGGACGAGGAATACGATGTGATCGTGCTGGGGACCGGTCTCACC___GAATGCATCCTGTCGGGCATCATGTCTGTGAACGGGAAGAAGGTGCTGCACATGGACCGGAACCCCTACTACGGGGGCGAGAGCTCCTCCATCACACCCCTGGAGGAG___CTGTATAAGCGTTTTCAGTTGCTGGAGGGGCCCCCTGAGTCGATGGGCCGAGGCCGAGACTGGAATGTTGACCTGATTCCCAAATTCCTCATGGCTAACG___GGCAG)CTGGTAAAGATGCTACTGTATACAGAGGTGACTCGCTACCTGGACTTCAAGGTGGTGGAGGGCAGCTTTGTCTACAAGGGGGGCAAGATCTACAAAGTGCCGTCCACTGAGACTGAGGCCTTGGCTTCCA|ACTAAAGCAAAAATGCGGACCCAACAAAGCCaGATTGCAATCCTGGAGCCCCgAGAC MDEEYDVIVLGTGLTECILSGIMSVNGKKVLHMDRNPYYGGESSSITPLEELYKRFQLLEGPPESMGRGRDWNVDLIPKFLMANGQLVKMLLYTEVTRYLDFKVVEGSFVYKGGKIYKVPSTETEALAS|n* 20BR007 ENSG00000115806.13 ENSG00000115806.13 +/+ +/- chr2:170950290 chr2:170937811 CDS/splice-site intron inversion/3'-3' 1 1 0 306 7 medium out-of-frame . GRASP55/65_PDZ-like_domain_(100%)| . . ENSG00000115806.13 ENSG00000115806.13 ENST00000234160.5 . downstream downstream . ^(AAGTGCTACGCGGAGGATTAGAGCAGGCGGTGCGCTGGGGGCGGGAGCAGCGCGGAGCCCGGCTCGGCCACACCGATCGCCCGCCGCCATGGGCTCCTCGCAAAGCGTCGAGATCCCGGGCGGGGGCACCGAGGGCTACCACGTTCTGCGG___GTACAAGAAAATTCCCCAGGACACAGAGCTGGTTTGGAGCCTTTCTTTGATTTTATTGTTTCTATTAATGGTTCAAGATTA___AATAAAGACAATGACACTCTTAAGGATCTGCTGAAAGCAAACGTTGAAAAG)CCTGTAAAGATGCTTATCTATAGCAGCAAAACATTGGAACTGCGAGAGcCCTCAGTCACACCAAGTAACCTGTGGGGCGGCaAGGGCTTATTGGGAGTGAGCATTCGTTTCTGCAGCTTTGATGGGGCAAATGAAAATGTTTGGCATGTGCTG___GAGGTGGAATCAAATTCTCCTGCAGCACTGGCAGGTCTTAGACCACACAGTGATTATATAATTGGAGCAGATACAGTCATGAATGAG|AGACAGGATCTCACTTTACTGTCTAGGCTGGTCTCAAACTCCTGGCTTCAgGTgATACTCTGCCTCGGCCT...AGGATTgCAGGTGACAGTCACTGTACCAGGTGCTTCCTCCTTTGTTgCCCTCTTTCCCTTCCCTCCCTCCTTCCCTCTCTCTTTCTTTTTCTTTCTCAAGCTCTCAATATTTTGCCACGGCTACTCTTGAACTCCTGGGCTCAAGCgATC MGSSQSVEIPGGGTEGYHVLRVQENSPGHRAGLEPFFDFIVSINGSRLNKDNDTLKDLLKANVEKPVKMLIYSSKTLELREpSVTPSNLWGGkGLLGVSIRFCSFDGANENVWHVLEVESNSPAALAGLRPHSDYIIGADTVMNE|rqdltllsrlvsnswlqvilclg 20BR007 ENSG00000139687.15 ENSG00000223540.1(12611),ENSG00000224250.1(9698) +/+ ./+ chr13:48342714 chr10:121726605 CDS/splice-site intergenic translocation 2 0 0 43 4 medium out-of-frame . Domain_of_unknown_function_(DUF3452)(100%)| . . ENSG00000139687.15 . ENST00000267163.5 . downstream upstream . ^(TTTCCCGCGGTTGGACGCGGCGCTCAGTTGCCGGGCGGGGGAGGGCGCGTCCGGTTTTTCTCAGGGGACGTTGAAATTATTTTTGTAACGGGAGTCGGGAGAGGACGGGGCGTGCCCCGACGTGCGCGCGCGTCGTCCTCCCCGGCGCTCCTCCACAGCTCGCTGGCTCCCGCCGCGGAAAGGCGTCATGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACCGCCGCCGCTGCCGCCGCGGAACCCCCGGCACCGCCGCCGCCGCCCCCTCCTGAGGAGGACCCAGAGCAGGACAGCGGCCCGGAGGACCTGCCTCTCGTCAG___GCTTGAGTTTGAAGAAACAGAAGAACCTGATTTTACTGCATTATGTCAGAAATTAAAGATACCAGATCATGTCAGAGAGAGAGCTTGGTTAACTTGGGAGAAAGTTTCATCTGTGGATGGAGTATTG___GGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCAGTT)GACCTAGATGAGATGTCGTTCACTTTTACTGAGCTACAGAAAAACATAGAAATCAG|GAAGCACAACCCTCGCTCTCATCCCCGAGTCTGACATTGGATTATCAGTGGCCTCTGAACTTTATGGCCACGAACCCCATTGGTAAATG___AGACGGAGACTCGCTCTGTCGCCgAGGCTGGAGTGAAaTGGTG MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEIr|khnprshprv* 20BR008 ENSG00000165244.7 ENSG00000260690.1(220212),ENSG00000182601.7(17100) -/- ./- chr9:96398164 chr16:25674859 CDS/splice-site intergenic translocation 18 35 0 50 62 high out-of-frame . C2H2-type_zinc_finger(100%)| . . ENSG00000165244.7 . ENST00000375256.5 . upstream downstream duplicates(4) ^(ACCGCGGCGGCAGGTTGTTATTTTTGGGGGCTCAGCGCCGCGCGTCCTGCTTTCCTGTCACCGCAAGGGCCGGGCCGCCCGCTGCTTCCCACCCCTGCAGCCTGCGCTGCGGAGTACAAAGAGCGGAGGGCGCGCTTGACCTGGGGCTGGGGTCCAGCCCTGCCCGCCGGTGCCGTCTGCTCAACTAGTTAGGTGGCTGCTGCGCAGGATTCCGGGAAACGTCAGTCTGCCATGAGCCGGCAGGACTGAGCCTGCGACTCGGAGCAGAGCGAGTGAGGGGCAGAGCGGTGCTCAGGAGTGCGGCCCGGGGCCGCCGGAGCTGGGGGTCGGGCCGGGCGATGATCCGGGGCTTCGAGGCGCCCATGGCGGAGAACCCGCCGCCGCCGCCGCCGCCCGTCATCTTCTGCCACGACTCCCCGAAGCGGGTGCTGGTGTCGGTCATCAGGACGACCCCGATCAAGCCAACGTGCGGCGGTGGAGGGGAGCCGGAGCCGCCGCCGCCGCTCATCCCCACCAGCCCCGGCTTCAGCGACTTCATGGTGTACCCGTGGCGCTGGGGCGAGAACGCACACAACGTGACGCTCAGCCCTGGGGCCGCGGGGGCCGCCGCCTCGGCCGCCCTGCCTGCAGCCGCAGCCGCCGAGCACTCGGGGCTTCGTGGCCGGGGCGCGCCCCCGCCCGCCGCCTCGGCCTCCGCCGCCGCCTCGGGAGGTGAGGACGAGGAGGAAGCGAGCAGCCCAGACAGCGGCCACCTCAAG___)GATGGAATCCGACGTGGTAGGCCCAGAGCAGATACTGTCCGCGATTTAATAAATGAAGGAGAGCATTCATCCAGCAGAATCCGTTGTAACATCTGTAATAGGGTGTTTCCACGGGAGAAATCGCTCCAGGCTCACAAAAGGACTCATACAG|GTCTGGCCAGTGACATCCCCTTTAAGCAGGCTTGTGTCCTTTTG___AACCTGTTGTCTGCCATGACCAGGAGCTCCATTCTCACACCTCTCTTTCTGGCCTCGCTCATCTCAGCCCATG___TTGTCTCCTGGCCTGTTAAATGTGTCCATGACTACACAGAAATTCCTGCCTATTGCCTGCTTTCCTGATGGAGAAGTTCATGATCTGCAATAATCATCAGTGAACTGCAGCCTTTATGCCAATTCTG MIRGFEAPMAENPPPPPPPVIFCHDSPKRVLVSVIRTTPIKPTCGGGGEPEPPPPLIPTSPGFSDFMVYPWRWGENAHNVTLSPGAAGAAASAALPAAAAAEHSGLRGRGAPPPAASASAAASGGEDEEEASSPDSGHLKDGIRRGRPRADTVRDLINEGEHSSSRIRCNICNRVFPREKSLQAHKRTHT|glasdipfkqacvllnllsamtrssiltplflaslisahvvswpvkcvhdyteipayclls* 20BR008 ENSG00000007545.16 ENSG00000261234.1(270117),ENSG00000201999.1(93239) +/+ ./+ chr16:1632365 chr16:66208570 CDS/splice-site intergenic deletion 35 14 0 106 69 high out-of-frame . . . . ENSG00000007545.16 . ENST00000397412.8 . downstream upstream duplicates(4),mismatches(1) ^(GAGGTCCCCACCGGCCGCCGTAGCCGGAACTGCTGCTGAGGGCGGCGGGCCGGCTTCGCTAGGGTGAGTGGCGGCAGTATCTGCGTCCGCAGCCCCCGCAGCCGCGCGCCGGCCCGCGGAGGGGACGTGCCGGGGCTAGCGCCGCTCGACCAGTCGCTTCCGAGGCGGACGACCAGCCCGGCGTTGCGGCCTCCCTGCAGCCGGCGCTCGGGGGCCGGGGCTGCCCGGCCCGGCTGGTTCTGCGGGCACCCGGGGAGGCCCCGGGAAGCCAGGCTGCCGCCCGGCGTTGATGAAAAAG___GATGACAGTGAAGTTGGGCGACGGCGGCAGCGGGGAGGACGGGCTCAAGAAGCTGGGCAAGCGGGCGGCCGATGAGGAGTCCCTGGAAGGAGAAGGGGCCGGCGGCGCAGACGCGGCCGAGGAGAGCAGCGGCACAAAGAGGGACGAGAAGACCCCCCGGGCCGGCGCCGACGGCCCCCCCGCGCCCCCCGGCGCGCCGCAGGCGCCGTCCCCGCCGCAGGGCAGCCCCCAGGACCAGCACCACTTCCTCCGGTCCAGCGTGCGGCCGCAGAGCAAGAGGCCCAGGAAGGATCCTCCGAGCGCTGTGGGGAGCGGCAACGCCGGTGGCTCGGGGCCCCGCGGAAAAG___GAGCTGAAGGTGGTGGATCATCGTCTGGAAATGTGTCTGGGGTTGCCCCTGCTGCCCCTGCAGGGGGCTCGCGCTCCTCCTCCCGGAACTTAGGGTCTTCTGGTGGCGAGAAGGAAGAAGGCAAAAAGGTCCGGC)GGCAGTGGGAGTCGTGGAGCACAGAGGACAAGAACACCTTCTTCGAGGGGCTGTACGAG___CATGGGAAAGACTTTGAAGCGATTCAGAACAACATTGCGCTGAAGTACAAGAAGAAAGGCAAGCCAGCAAGCATGGTGAAGAACAAGGAGCAGGTCCGCCACTTCTACTACCGCACCTGGCACAAGATCACCAAGTACATCGACTTTGATCATG|ATCCTCGAGGATGGTGACCCTGTCTTACTCCTTCAGGACATAGCACAAATGTTTGTGAAATGAATGAACTAATGAATGAATAAACACATCCAGTAGTTGAAGTAGAAAATACTTTGCAATGCTAGCAAACATTGCCCAATAAATTGCCTTGGTAAAATA...___GTAACTAGTCTTCCTCTTGGAAACCTCCAAGTTCCAGGAGCAGCAAGGAGTCTCTTTTGG___TGTGCAGACAATCACGG MTVKLGDGGSGEDGLKKLGKRAADEESLEGEGAGGADAAEESSGTKRDEKTPRAGADGPPAPPGAPQAPSPPQGSPQDQHHFLRSSVRPQSKRPRKDPPSAVGSGNAGGSGPRGKGAEGGGSSSGNVSGVAPAAPAGGSRSSSRNLGSSGGEKEEGKKVRRQWESWSTEDKNTFFEGLYEHGKDFEAIQNNIALKYKKKGKPASMVKNKEQVRHFYYRTWHKITKYIDFDH|dprgw* 20BR008 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 24 24 1 145 141 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(2),inconsistently_clipped(1),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCA)CTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 20BR008 ENSG00000011454.17 ENSG00000169059.12(133592),ENSG00000237490.3(320619) +/+ ./- chr9:123020459 chrX:6668710 CDS/splice-site intergenic translocation 27 13 5 154 56 high out-of-frame . Kinesin_protein_(100%),Phosphotyrosine_interaction_domain_(PTB/PID)(100%),Rab-GTPase-TBC_domain(100%)| . . ENSG00000011454.17 . ENST00000373647.9 . downstream downstream duplicates(5) ^(GGTTTGGGAGGCCCAGGCGGCGGAGCCTCCGGGACGGCGAGCGGCGGGCGGCGGAGGAGGAGACGGCAGGTCGG___GCATTAAAAAATATTTAATCATTCATGTGTTGAGACTCATTCTTGAGTTATGGATGACAAGGCTTCTGTTGGAAAAATCAGTGTCTCTTCAGACTCAGTATCTACTCTTAATAGTGAAGATTTTGTCTTGGTTTCCAGGCAAGGAGATGAGACACCATCTACAAATAATGGAAGTGATGATGAGAAAACAGGACTCAAG___ATTGTAGGGAATGGAAGTGAACAGCAGCTGCAAAAAGAGCTAGCAGATGTACTGATGGATCCTCCAATGGACGACCAGCCAGGGGAAAAGGAGCTTGTGAAAAGGTCACAACTGGATGGTGAAGGAGATGGGCCTCTTTCTAATCAGCTCTCCGCTTCATCCACCATTAACCCTGTGCCATTAGTAGGGCTCCAAAAACCAGAGATGAGCCTACCAGTGAAACCTGGACAAGGAG___ATTCTGAAGCTTCAAGTCCTTTCACACCAGTGGCCGATGAGGACAGCGTAGTTTTCAGTAAACTGACTTACTTAGGCTGTGCCTCGGTAAATGCTCCCAGGAGTGAAGTGGAAGCCTTAAGGATGATGTCCATCTTAAGAAGCCAGTGTCAGATTTCACTAGATGTTACCCTTTCAGTGCCGAATGTGTCTGAAGGAATTGTGAG___ACTCTTAGATCCTCAGACAAACACTGAAATAGCAAACTACCCTATCTACAAAATCCTCTTCTGTGTCAGAGGGCATGATGGAACTCCTGAGAGTGACTGTTTTGCTTTCACTGAAAGTCATTACAATGCAGAGCTCTTCAGAATACACGTCTTCCGGTGTGAAATACAAGAAGCT___GTAAGCCGGATACTTTACAGTTTTGCCACTGCCTTCCGCCGTTCTGCCAAGCAGACCCCACTTTCAGCCACTGCTGCACCCCAGACTCCTGACAGTGACATCTTTACCTTCTCTGTGTCTTTAGAAATAAAAGAAGATGATGGTAAAGGTTATTTTAG___TGCAGTTCCCAAAGATAAGGACAGACAGTGCTTTAAACTACGCCAAGGAATTGATAAGAAGATTGTCATCTATGTGCAGCAAACAACTAATAAAGAACTTGCCATTGAAAG___GTGTTTTGGTCTTCTCCTTAGTCCAGGAAAAGATGTACGAAATAGTGACATGCACTTATTAGATTTG___GAATCTATGGGCAAAAGTTCAGATGGAAAGTCGTATGTTATTACGGGGAGCTGGAATCCAAAATCCCCACATTTTCAAGTTGTAAATGAAGAAACTCCTAAAG___ATAAAGTCCTGTTTATGACCACAGCTGTAGATTTGGTAATAACAGAAGTACAGGAGCCTGTTCGATTTCTCCTGGAGACAAAAGTCCGCGTTTGCTCACCTAATGAAAGATTATTCTGGCCCTTCAGCAAACGTAGTACTACTGAAAATTTCTTTTTGAAACTAAAACAG___ATAAAGCAAAGGGAGAGAAAGAATAATACTGACACTTTATATGAAGTTGTATGCTTGGAAAGTGAATCAGAAAGAGAGAGGAGGAAAACTACAGCCAGTCCTTCAGTTCGCCT)GCCACAGTCTGGATCGCAAAGTTCAGTGATACCTTCTCCTCCAGAAGATGATGAAGAGGAAG___ATAATGATGAACCTCTCCTGAGTGGATCTGGTGATGTATCCAAAGAATGTGCAGAAAAAATTCTTGAAACATGGGGAGAACTGTTGTCAAAATG___GCATCTCAACTTGAATGTGAGACCGAAGCAGTTGTCATCCTTAGTAAGAAACGGTGTCCCTGAAGCTCTTCGAGGAGAAGTCTGGCAGCTGCTAGCAGGCTGTCATAACAATGACCACCTGGTAGAGAAATACCGCATTCTTATCACAAAG|GGCTTTGCGCTACAGAGATGAGATGATACTGATTAAAG___GGACAGGGGAATAAAAATGTGATGCATTGGAGGAGAATCACAGGACTCAACAAATAAACCTTGAGATGTCATTGTCACCTGTGTGTACTTTATGAGAATACACGTAGAGATTAACCCTTTCCTGGAAAATGAACGTCTATTGCTTCTTTTGGGGACAGCATGCTTTATAGTTAGGACATTCTTCTTTATATCCAGCCTGACTTCTTCATGCTGTACTAGCCTTCC MDDKASVGKISVSSDSVSTLNSEDFVLVSRQGDETPSTNNGSDDEKTGLKIVGNGSEQQLQKELADVLMDPPMDDQPGEKELVKRSQLDGEGDGPLSNQLSASSTINPVPLVGLQKPEMSLPVKPGQGDSEASSPFTPVADEDSVVFSKLTYLGCASVNAPRSEVEALRMMSILRSQCQISLDVTLSVPNVSEGIVRLLDPQTNTEIANYPIYKILFCVRGHDGTPESDCFAFTESHYNAELFRIHVFRCEIQEAVSRILYSFATAFRRSAKQTPLSATAAPQTPDSDIFTFSVSLEIKEDDGKGYFSAVPKDKDRQCFKLRQGIDKKIVIYVQQTTNKELAIERCFGLLLSPGKDVRNSDMHLLDLESMGKSSDGKSYVITGSWNPKSPHFQVVNEETPKDKVLFMTTAVDLVITEVQEPVRFLLETKVRVCSPNERLFWPFSKRSTTENFFLKLKQIKQRERKNNTDTLYEVVCLESESERERRKTTASPSVRLPQSGSQSSVIPSPPEDDEEEDNDEPLLSGSGDVSKECAEKILETWGELLSKWHLNLNVRPKQLSSLVRNGVPEALRGEVWQLLAGCHNNDHLVEKYRILITK|gfalqr* 20BR008 ENSG00000125107.18 ENSG00000286612.1 -/- -/- chr16:58580633 chr9:82646577 CDS/splice-site exon translocation 32 11 0 180 32 high out-of-frame . . . . ENSG00000125107.18 ENSG00000286612.1 ENST00000317147.10 ENST00000661177.1 upstream downstream duplicates(8),mismatches(1) ^(GTAGAGAAACAAGCGGAGTTAACCGAAGAGGGGGTCGAGGAGAGCCGGAGTCGGGGACCCAGGAGTTTCCTGTGTCCAGCGCTGCCGGAGCCGCCTGAG___GTGCCATGTTTCAGAACAGAGTAAGACCCCTGGTAAAGAAGAACTGAAGATATTATACAGATACCAGATATAGCCTAATTACAAAGAAAGCATTAACCTGCCTCTGAGGTGACTAAAGGGGAATAATGGTGATTTTGCGCCGGGCTCGGCCGCCTGCTTCCGCCCCAACCAGCAATGAATCTTGACTCGCTCTCGCTGGCCTTGTCTCAAATCAGCTACCTGGTGGACAATTTAACCAAGAAAAATTACCGAGCCAGCCAGCAGGAAATACAGCAT___ATTGTGAATCGGCACGGTCCTGAGGCAGACAGGCATTTATTACGCTGCCTATTTTCGCATGTGGATTTCAGTGGCGATGGTAAAAGCAGTGGCAAAGATTTCCATCAG___ACTCAGTTTCTGATTCAGGAGTGTGCGTTGCTGATTACAAAGCCAAATTTTATCTCGACGCTGTCCTATGCCATTGATAATCCATTGCACTATCAGAAG___AGTTTAAAGCCTGCACCCCACTTATTTGCCCAGCTGAGTAAAGTGCTCAAATTAAGCAAAGTACAAGAG___GTAATTTTTGGCCTTGCCCTGTTGAATTCTTCCAGCTCAGATCTTAGAGGTTTCG___CTGCCCAGTTTATCAAACAGAAGCTTCCAGATCTTCTGCGTTCTTACATTGACGCAGACGTCAGTGGAAATCAAGAAGGTGGCTTCCAAGATATAGCAATAGAGGTCCTACACCTCCTCCTCTCCCATCTCCTCTTTGGGCAGAAGGGAGCCTTTGGAGTTGGACAAGAACAGATAGACGCTTTTCTTAAGACGCTGCGCAGAG___ATTTTCCCCAAGAACGCTGTCCCGTGGTGCTCGCACCACTTTTATACCCTGAAAAACGGGACATTCTAATGGACAGGATCCTGCCTGATTCCGGAGGGGTAGCTAAAACCATGATGGAGAGCTCTTTGGCTGATTTCATGCAAGAAGTAGGCTATGGCTTTTGTGCAAG___TATTGAAGAATGTCGCAATATAATCGTGCAGTTTGGTGTTCGGGAGGTCACAGCTGCCCAGGTTGCAAGGGTTTTGGGAATGATGGCTCGAACTCATTCAGGATTAACAGATGGCATTCCATTACAG___AGTATTTCTGCTCCGGGCAGTGGGATCTGGAGTGATGGGAAAGATAAAAGTGATGG)AGCACAGGCACACACATGGAATGTAGAAGTCTTGATTGACGTTCTTAAAGAACTG___AATCCAAGTTTGAATTTCAAGGAAGTAACTTATGAACTGGACCATCCTGGATTTCAAATTCGTGACAGTAAAGGACTTCATAATGTGGTTTATGGCATTCAGAGGGGTTTGGGTATGGAAGTGTTCCCAGTAGACCTCATATATAGACCTTGGAAACATGCTGAAGGCCAG___CTCTCCTTCATTCAACATTCCCTTATAAATCCAGAGATCTTCTGTTTTGCTGACTATCCCTGTCATACTGTTGCCACTGATATTCTGAAAGCACCACCAGAGGATGACAATCGAGAAATTGCCACATG|GTTTGTGCAAACCTCATTCTGGTTCTTGAAATATGTAAAAGACCCTCGAAGCATAATTCTGTGCTATTCCCCACATTGAGAGAGTGAGATGGAGCTCAGTTGGATGTCACCTCCCCTGTTTGGGACAAAGATCACACTCTGCCTTGAAACCCAGTAATCAAAAAG(___ATCCTGGACATGGTGCCATCCTGTTCTCTCACCACAAGTCCAATGGCAAGCTGGAGCCTAAAAGTGACTGTGCCCAAGCTTTCAGTGCTTTTTCTCCTGGGAGAAACTTTGGAATGAGCACATCCTCTCATGACTGAAGCTGTTATTTATTAAAGCAGAGATGCATTGATGGATTCAGCAGCAGTGGACCGAAGTTGAGCTCTGCCGCAGGATGCTGAAGACCTTGTCAGATGTGGGCAGCCAGTAGACAGCTGTAAGGCAACCCTTGACCTGAGAGCTCTGCCATGGTAATTAGTGTTGTAAATGAGTCAAGCTTACAGAGGCATATGCTCAAATCTAATATAGCATCTTCCATCACTATCTTTGTGTTACGATGATCATAACTGTTTTCAGAGTGTGCTAAAAGTATTCTTAAAGAGTTACAAAGCAGTAACAAAGAAGCTAGCAACTGCCCACCGCCTTTCCCCCTCACCCAAACAACCTCCACCCTAGGTGATTTCCCAAACCCATTTGAAATAGAGATGAATTCAGGTGAGTTTCTATACCACAGCCTGATCTTTGGCTGTATAAGATTACTTTTCAACAATATAAGATGCATAAGTGCCTTTTCATCGTATGAAGAAAGCATGCCCACTGGCAAATGAATCATATTATAAAAATTGATTGTATCCCAAAAGGGAAAAATGTTATTGAAGATCCAATGGCCTGGGATGATACACCATTGATCATTGTAAGAAATACTTCCAGAAACTGTTTTTAATCTTTCCGCCAGAGCATTAGCAATTATTCTTTAGCCCATGGTGAGTAATGACTTGAGTTTCCCAGCTTCTCAATCGATAAAACATTTACCCTACCGCTACAAATGTGCTCTTCGCTTAGACAAGCAGAATTTTTCTTCCAATTACTCTTTTTTTTTTTAGTGTGACCTCATAAAATATTTTTAAACATATTTCAAGGCTCTTTTGTAAAAAAGGAAAGGAACAATACTCCTCCACGTGCTTATTTTTTCCCTTTTCCTTCTTTTGACAAAGAAGTCATGAAGATTTCATAGTTATTTAGATAGCTAAGACTGCTTTTTATCATCTCTTTCAAACTTAAGAAATGGTTTTTATCCCGCCAGCTGCTACATTTTGGAGTTGGCCAGTAATAAAACATTTCTCTTCCCCTCTCCCCTGAACAAAGCTGGTTGTCCAAATTCCTTCGAAAATCAACAACAACAAAATATAATACCACTCCTAAGGAGGCTGATATCTTCCTCCACTTTCTCTACATGCCTTATAAAACTATAGCACTGGCTAATGGAGAACAACATAAAACACACTGTTATCAGGCTAACAAATAGCTGTACAGAAAATTGGAGATTAAAGACGAATGTGCACAAG)$ MNLDSLSLALSQISYLVDNLTKKNYRASQQEIQHIVNRHGPEADRHLLRCLFSHVDFSGDGKSSGKDFHQTQFLIQECALLITKPNFISTLSYAIDNPLHYQKSLKPAPHLFAQLSKVLKLSKVQEVIFGLALLNSSSSDLRGFAAQFIKQKLPDLLRSYIDADVSGNQEGGFQDIAIEVLHLLLSHLLFGQKGAFGVGQEQIDAFLKTLRRDFPQERCPVVLAPLLYPEKRDILMDRILPDSGGVAKTMMESSLADFMQEVGYGFCASIEECRNIIVQFGVREVTAAQVARVLGMMARTHSGLTDGIPLQSISAPGSGIWSDGKDKSDGAQAHTWNVEVLIDVLKELNPSLNFKEVTYELDHPGFQIRDSKGLHNVVYGIQRGLGMEVFPVDLIYRPWKHAEGQLSFIQHSLINPEIFCFADYPCHTVATDILKAPPEDDNREIATw|fvqtsfwflkyvkdprsiilcysph* 20BR008 ENSG00000173674.11 ENSG00000102910.14 -/- +/+ chrX:20132182 chr16:48299662 CDS/splice-site CDS/splice-site translocation 18 10 1 661 468 high in-frame . Translation_initiation_factor_1A_/_IF-1(100%)|Lon_protease_(S16)_C-terminal_proteolytic_domain(100%) . . ENSG00000173674.11 ENSG00000102910.14 ENST00000379607.10 ENST00000285737.9 upstream upstream duplicates(1) ^(GCCATTTGCTGCCGCCGAGCGTGGACGCAGGCGGATCTCTGAAGAGCTGGGTCGCCAGCCTCTCCCGCGCACGTTGCCTGGCCTCCAGCACCTACTTGGTCCCGCGCGCTCCCTCGTGTCGCCCCTCGGAGCAGCAGCCGCCGCGGTCGCCGCTACCCGGAAAGAAGTCAGAGACGCCG)CGAGGTCGCCGCCACCGCCATGCCCAAGAATAAAG___GTAAAGGAGGTAAAAACAGACGCAGGGGTAAGAATGAGAATGAATCTGAAAAAAGAGAACTGGTATTCAAAGAGGATGGTCAGG___AGTATGCTCAGGTAATCAAAATGTTGGGAAATGGACGGCTAGAAGCAATGTGTTTCGATGGTGTAAAGAGGTTATGTCACATCAGAGGAAAATTGAGAAAAAAG___GTTTGGATAAATACCTCGGACATTATTTTGGTTGGTCTCCGAGACTACCAG___GATAACAAAGCTGATGTAATTTTAAAATACAATGCAGACGAAGCTAGAAGTCTGAAGGCATACGGCGAGCTTCCAGAGCATG|GTTATACACAGGAGGAGAAGATAGAGATTGCCCATAGGCACTTGATCCCCAAGCAGCTGGAACAACATGGGCTGACTCCACAGCAGATTCAGATACCCCAGGTCACCACTCTTGACATCATCACCAG___GTATACCAGAGAGGCAGGGGTTCGTTCTCTGGATAGAAAACTTGGGGCCATTTGCCGAGCTGTGGCCGTGAAGGTGGCAGAAGGACAGC(ATAAGGAAGCCAAGTTGGACCGTTCTGATGTGACTGAGAGAGAAG___GTTGCAGAGAACACATCTTAGAAGATGAAAAACCTGAATCTATCAGTGACACTACTGACTTGGCTCTACCACCTGAAATGCCGATTTTGATTGATTTCCATGCTCTGAAAGACATCCTTGGGCCCCCGATGTATGAAATGGAG___GTATCTCAGCGTTTGAGTCAGCCAGGAGTAGCAATAGGTTTGGCTTGGACTCCCTTAGGTGGAGAAATCATGTTCGTGGAGGCGAGTCGAATGGATGGCGAGGGCCAGTTAACTCTGACCGGCCAGCTCGGGGACGTGATGAAGGAGTCCGCCCACCTCGCTATCAGCTGGCTCCGCAGCAACGCAAAGAAGTACCAGCTGACCAATG___CTTTTGGAAGTTTTGATCTTCTTGACAACACAGACATCCATCTGCACTTCCCAGCTGGAGCTGTCACAAAAGATGGACCATCTGCTGGAGTTACCATAGTAACCTGTCTCGCCTCACTTTTTAGTGGGCGGCTGGTACGTTCAGATGTAGCCATGACTGGAGAAATTACACTGAGAGGTCTTGTTCTTCCA___GTGGGTGGAATTAAAGACAAAGTGCTGGCGGCACACAGAGCGGGACTGAAGCAAGTCATTATTCCTCGGAGAAATGAAAAAGACCTTGAGGGAATCCCAGGCAACGTACGACAGGATTTAAGTTTTGTCACAGCAAGCTGCCTGGATGAGGTTCTTAATGCAGCTTTTGATGGTGGCTTTACTGTCAAGACCAGACCTGGTCTGTTAAATAGCAAACTGTAGGTCCAAATCTCAATTTTTTAGAATTTTAAGTTATGAAGTGCTCAAAGGTACTGACACAGTTGATTTTATTCACACCATTAGGGGTATGCAAGATGTCCCTGTTTTATAAACATAATCACAACAGTAATAAACCTCAAGTAGTGGCTAGTGTTTAGTATAGAAATATAAGATGTTGATTTAGTAAACTGATAAAAATCGAATTCTTGTCTTTTTAGTGGGATCCTTACTGTCCCTGGAAAGATATAGCATAGTGGTTCTCAGCACAGTCTCCAGAACAGAAGCATCTGTAGTACCTGGTAACTTGTTAGAAATGTACATTCTCAGGCTCCACAGCAGGCCGCCTGAATCAAATCCTGGGAGGTGGGGACAGAAATCTGTGTTTTAAGAAGCCTTCCAGGTAATTCTGCTGCACACTCAAGTTCAGGAACCACCGGTATAGACCATTACCTTAGTGGATTTACCTGTAGAGTTTATTGGATCCTGAAACCAATCAATTACTTAGAACTAGGCAAAGATGAAAGTATAGCCAACTATTCTTGGCTATATATATATATTCAAGTGGGCCGGGCGTGATGGCTCACACCTGTAATTCCAGCACTTTGGGAGGTCGAGGTAGGCAGATCACCGAGCCCAAGAGTTCAAGACAATCCTGGCCAACGGCGAAACTCTGTCTCTACAAAAAATATACAGGCGTGTTAGCATGTGCCTGTAATCCCAGCTTCTTGGGAAGCTGAGGCACAAGAATTGCCTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGGGATCGCGCCATTGCACTCCAGCCTGGCTGACAGAGCGAGACTGTCTCTAAAAAAAAAAGACTCAAGTGGACCCTACAATGAAGCCTACACATCCCAATAGAAGCCCCTTCTTATGCTGAGGGAAGCAGCCCTCAGAACATGATAGCTTGTATCCAGCAGAGTGGCACGTGCTGGCACACCTCACAGAAGCACCCTGGCCCTGGATGCCTGCAACCTCAGAAGAGTGCAGCTCCCAGAGGGAGGCAGCCATCCATCTGGGATGGTCCTAAGCATGGAATCCTAACTCCTGATTCCGTCTCCTATTTCTTGCTTGGCTACGCCAGTTCCCAAATCTGGTAGATGTCCATGCCCATGTGCTCCTGCTGGGACTCAATTCAGGCTATGTATGACTATGAAGTCAGGCTCATCTGCTTACTGGCTGTGTGAACTTTTTGTATCTTGGTTTTCTTCATCCATGAAATCCAAGTAATACTACCTAATTGTTACTGTGGAGATTAAGTTCAAATGCAATGTATAGTAATATTAAGCAATTTCTAGTTATTATTCTAGCCAGTAATGGACTTCAGAATCTTTTATTACACAATATAAGAATATGTATGTAAAGACATTTTGGAATTTCCTGGATGAGAAGGAAGTCTGGGCTGGGCATGGTGGCTCACGCCTGTAACCCTAGCACTTTAGGAAATCGAGGCGAGTGGATCACTTAAGCTCAGGAGTTCAAGGCCAGCCTGGGCAACATGGCAAAACCCCATTTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCGCCTGTAGTCCAGCTACTTGAGGCTGAGATGGGAGGATGAGGGAGGTCGGGGCTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCACCCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGATTGGGCCAAAATACTGTGATAAAATAGCAGGCCTGCTGATAAAAGTTTATCTGAATGCATTGAGAGGAAAAGTCCAGACCTAGGACTAGTTATGGCAGTTGGAGAGAAAGAACATCGGGATGTTTGAAAATATGCCATTGACTATCTTAACTACTGTAATTTTATCATTTCCAACGTCATCTAACTGGGGACTAGAACAAACTGTGAATTCACTTTCAGCAACCAGAGGGCGCTAATCCACACCCACATCGCTCTGCCCTGTTCCACCCAGCAGGGGCAACAAGGATATAACTTGGGGTTCTCGGTATTCTTCCTTTAGTCCTGACACAGGCAGCCTTGCACTTTGTAGCAGCAGGAGGGCACTTGCTTTAAGCATATCTTTCGAAAGGCATCCATTGAGAGAATAATGCATTCTCCCCTTGCTGTGTATGACATGGAACAGTATGACCATTGCACTAGCTTTGTTTTTGGTTTGTTTTGTTTTTTTTTTAATTCCAGGGGTGGGAGGTTGGTTGGTTGAAGTCTAAGCTCTTCCTTTTTCACCTGGGTTTTTTTTTTTTGGGGGGGGTGGGGGGTTAGGGGTGGGGCGGGTGGGGAAGAGCCAAAATTTTAACCATTTTTAAGCATATAATTTGGGGGTATCAGTTACTGGATCTAAGCATGTCCACTCTACACGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTACCCAGGCTGCACTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGCAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGTGTGCCACCACGCCCAGCTAATTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAAATGATCCGGCCACCTTGGCCTCCCAAAATGCTGGCATTACAGGCGTGAGCCACCACACCCGGCTTACATGCATTTTTTATCACCACAAACTGAAACTCTGTACCCACTGAAAAAGAGCTCCAAATTCCACCCTCACCCCAGACCCTGGTAACCACTATTTCACTTTCTTTCTGAATTTCCCTTCATATGAGTGGGATCAAACAAGAGTTGTCCTTTTGTGTTTAGCATTCTTACTTAGCAAGCCATCAACTGCTCGAACAGTCACTGGGGCAACTACTTTTCGCCCAGTGTCCTCCAGAAAAGAAAGATCTGGAGGGTCAGGCCACTCTTTTTCTTCAAAATAATGGGGTGCAGAAGGGTAGGGATGAACCTCTTCCTCCTTTGCCACTTTAGCTTTAGCTCAAAGGAACTCCAACTTTTTATTATTTGCAACAGTTAGCTTTCTTTGTTTCACATCTCTGCCTTGCAGAACCATGACCTATCAAGGTGTTTTGTCAAACAAAAACTAATACTTTCCCTGGGAAAAAGCCATGTGGTAGCAAGTACCAGAAATTTTTATGGCCAAATAATACACCACTATATCCATAGACCGCATTTGGTTTATCCACTCATCTGCTGATTGTTTCCCCCTCTTGGGTATTATGAGTAATGCTATGAACATGGGTGTACACATCTCTCTTGAAGTCCCTTCTTAGGTCCTTTAGGGATACATATCCAGGAGCAGAACTACTAGATCACATATGCTAAGGTCTGAATGTCCCCCCACCAAATTCGTATGTTGAAGCAACCACCAACGTGATAGGTGAGGCTTTAGGAGGTGATTATGTCATGAGAGCTCCATCCTCATTAATGGATTTAGTGCCTTTATAAAGGGGCTCAAGGGAACCAATTACCTCCTTTTTGCCCTTCGATTCCCTTCCACCATATGAGGACACAGCAACAGGCCCCGTCCTAGAAGCTGAGACTGGGCCCTCAATAGATGATACCAGTCTGCCAGCACGCTGATCGTGGGCTTCTCAGTCTTCACAACTATGAGAAATAAATTCGTACTTTTAAATTACCCAGTCTCAGGTATTCTGTTACGGTTAACACAAATGACTAAGACAACAGGATAATTCTGTTTAACTTTTTGAGAACTGCCAAACTTTTCCACCGCAGCTGCACCATTTGACATTCCTTCCAGCAATGCACAAATGTTCCAGTTTCTCCACATCCTTGCCAGCACTCATTTTCTGGGTTTTTTATAATAGCCCTCCAAATGGGTGTGACGTATTTTGATTCTATGTCCCTAATGACTAGTGATGTTGAGCATTTTCTAGCATTGATTTTTAAGATGTTACCCAAAGACCCCTTGTATCAAAATAAGCTGGATTTTTTTATTGAAAATTATTAACTCTAGAAATTTTAGTTTAAACTAGACTTAGGGATATGTGTATTTTACCGGTATTCCACGTTTTATGCATGGGTTTTTAAAACTTCTCAAGTATTAAAACTAAAAGCTTTAGGTGCTTTGCTTATCAAGAAATCCTACACTGTCCACTGGAGACATCCATGTTTTTACTTGGCTCTGCCCCTTTAGTGGTCCCTGTGAACCTTACCTCAAACCATGCATCTGGGGCAGAGATCCTTACTTGCTTGGTGGTTACAAATGCAAATACAGTGAAGAATGTCATCTTTGTGATTGTTCCTGAAATAGTTCACGAGAAATCCATGACCGTAAAGTACTGTGATAGTGATGTCTACCACTGTGAGCTTCCAGTACTAGGTGATTGGTCTGCATTCACAGTGACCAAAATCAGCTATGTGGCCAGGTAATTCACTGCTGAGGGCTTTGGATTTTCCTTTATGAACTACTGAAATGAGGTCAACTTGACTATTACTAAGGGACATTTTGCTACAAAGAATGTTAGTTTTGCCAATTCCCTTTCCAAATCTAAAATTTATTTTAACCAGGATTTTAGATGTAAACATCAAGTAGTTTTGGTTGTTTCAATGAAGTAACATGTTTAAGCTCACATTATTTGAAGTACTTCAGTTCCTATTGCCATGAAAATTGTATCCAGCAGCTAAAAAAAAAAAAAAAAAAAAAGACTACAGTTAGTCATTATCCAATTTGATGATTTATGGTCCAACACTAATGCTCATTTTTTTTGTTTGTTTTACAAACATTTGGTGGATACCACAATGAAAACTGCACTTAAAAAACAAAAATGCTGAAAGAGGAAGGAAATATCAAAAAGGTCTGAATAGACAACAGGCAAATATGGTGAGTGGTCATTGAGATGTTTTAAAAGTTACAGCAAAAGGACTTCTAAAACAATTTTAGGAAAAGCTTTGTCATGAAAATTCATTTCTTTGGAAATACTGTAGTTTGTACTTAATGACACTGTCAGCACATTTCTAGGCAATACAAACTCTTGAGGCTAAATCCTCATCCTGACATGACAGTGCAAGCCTGTCAAAATGTGACCCCAAAACCAGGTGTCCTTTTGCTCCATTATTTATATCTGTAAACCTGTTATTATTTTCAGAATTCAGAAAGGCCTAAGAAAATTACATCTATGATAATAAAGTGTATTTCTTTGTCAAGTTTCTAGAGCTATATAAGGATAGCGAAAATATTTGGTTCAGCAAGACACTGGGGTATCAAGTCAGGCATAATAAGCACTTTATAGCACATCTAGCCTTCCTCATTCCCTTACGCAGTGGACATCATACCCTTTTGTGGAGGAGGGACCAGGCAGAGAAGGTATTTAAATAAAAACTGGTAGATACAGAGTCAGAAGTCAACCCAGGCAGTTAGAATCTACAACCCACACTGTTTGCCACCAAATCTTAGTAGATGCTTGATAAGGAATTTTGTTTGGATGGTGCCATTTTTAGATAAACGTACGTTTCTTTTGGT)$ MPKNKGKGGKNRRRGKNENESEKRELVFKEDGQEYAQVIKMLGNGRLEAMCFDGVKRLCHIRGKLRKKVWINTSDIILVGLRDYQDNKADVILKYNADEARSLKAYGELPEH|gYTQEEKIEIAHRHLIPKQLEQHGLTPQQIQIPQVTTLDIITRYTREAGVRSLDRKLGAICRAVAVKVAEGQHKEAKLDRSDVTEREGCREHILEDEKPESISDTTDLALPPEMPILIDFHALKDILGPPMYEMEVSQRLSQPGVAIGLAWTPLGGEIMFVEASRMDGEGQLTLTGQLGDVMKESAHLAISWLRSNAKKYQLTNAFGSFDLLDNTDIHLHFPAGAVTKDGPSAGVTIVTCLASLFSGRLVRSDVAMTGEITLRGLVLPVGGIKDKVLAAHRAGLKQVIIPRRNEKDLEGIPGNVRQDLSFVTASCLDEVLNAAFDGGFTVKTRPGLLNSKL* 20BR008 ENSG00000102908.22 ENSG00000261210.8 +/+ +/- chr16:69655799 chr16:19305215 CDS/splice-site intron inversion/3'-3' 11 10 1 52 22 high out-of-frame . Rel_homology_DNA-binding_domain(100%)| . . ENSG00000102908.22 ENSG00000261210.8 ENST00000349945.7 . downstream downstream duplicates(1) ^(AGATTCCTGTCAGCGGCGGCGGCGGTGGCGGCGACCGTCAGTTTTCGCTGAGGAGAAACACGAAACGGACCCTTTGGCTCTCCCCCTTCCCCTTCCCCGTCCTGAACCCCTCTCCTGGTCACCGAGAATCAGTCCCCGTGGAGTTCCCCCTCCACCTCGCCATCGTTTCCTCGGTCCTCGGCCCAGTGGAAGTCACTACCCTCGAGGAGGAGGCAGCGGCAGCCGCCCTCGCGTCGCCGCCCCCGGTTCGGTGCCCGCGGTCCCGGAGAGGAGGTGCCGCCGCCACCGCCGCTCCCCCCCTCCCGCTGCCCTCGGGCCGGGCTGGGTCGAGCTGCGATGCCCTCGGACTTCATCTCATTGCTCAGCGCGGACCTAGACCTGGAATCGCCCAAGTCCCTCTACTCGCGAG___ATTCTCTGAAGTTACACCCATCACAGAATTTTCATAGAGCTGGACTATTGGAAG___AATCTGTCTATGATCTTCTCCCAAAGGAGTTACAGTTACCTCCATCTAGAGAAACATCTGTAGCATCAATGAGTCAGACAAGCGGTGGTGAGGCAGGCTCGCCTCCTCCAGCTGTTGTTGCTGCTG___ATGCTTCTTCAGCTCCCTCCTCTTCCTCCATGGGCGGTGCTTGCAGCTCCTTTACCACCTCTTCCAGCCCTACCATTTATTCTACCTCAGTCACCGACAGCAAGGCTATGCAAGTGGAGAGCTGCTCCTCAGCCGTGGGGGTAAGTAACAGAGGGGTAAGTGAAAAGCAGTTAACCAGTAACACAGTTCAGCAGCATCCATCAACACCGAAGAGGCACACAGTCTTGTACATCTCACCACCACCTGAGGACTTGCTGGATAACAGTCGGATGTCCTGCCAGGATGAGGGGTGTGGATTGGAATCTGAGCAGAGCTGCAGTATGTGGATGGAGGATTCCCCCTCCAACTTCAGTAACATGAGCACCAGTTCCTACAATGATAACACTGAGGTACCTCGTAAATCACGAAAACGAAATCCAAAGCAGAGGCCGGGGGTCAAACGACGAGATTGTGAAGAATCTAATATGGATATATTTGATGCCGACAGTGCCAAAGCACCTCACTATGTGCTTTCTCAGCTTACCACGGACAACAAAGGCAACTCAAAAGCGGGAAATGG___AACATTGGAAAACCAAAAAGGAACTGGAGTAAAGAAGAGCCCTATGTTGTGTGGACAATATCCTGTTAAAAGTGAGGGAAAGGAGCTGAAGATAGTTGTACAACCTGAGACACAGCACCGAGCTCGGTACCTGACTGAGGGCAGCCGTGGCTCAGT)GAAAGATAGAACACAGCAAGGCTTTCCTACAGTAAAG___CTGGAAGGCCATAATGAACCTGTAGTGTTGCAAGTGTTTGTGGGCAACGACTCTGGACGAGTGAAACCACATGGATTTTATCAGGCCTGCAGAGTAACTGGACGAAATACAACTCCTTGCAAAGAAGTGGACATTGAAGGCACTACTGTTATAGAAGTCGGCCTTGATCCTAGCAACAACATGACACTGGC|GAGGGCTGTGGCAGCCACAGAAGTACATTACCCAGATCGCCTTCAGGAGGACCAGAAGAAAGCAGAGTTGATGATGGACAGCCCCAGGTCTCCTGCCGCCTTGGATTCACTGCCTTGTCTGTGATAAGCACATGCCTCTGCCTCTTTGGAGCTGCCACTGCATTCACAGTGAGACAATGCTTCCTCCAGGCTGTTCCTAGCCAGTGACTCAGCATGTCAGGG...AAACAACTGCTCATCCAGGGCCCATATCAACGAGCCTGAAACAGGgTGTTTGTAGAGGTTAGAAGAATGGGCAAGGGATGTGACAGCAAATGGACAAATGGTGGGCACACCTCACTCAAATCATTCACAGGCCCAGATGACAGATCCCAC MPSDFISLLSADLDLESPKSLYSRDSLKLHPSQNFHRAGLLEESVYDLLPKELQLPPSRETSVASMSQTSGGEAGSPPPAVVAADASSAPSSSSMGGACSSFTTSSSPTIYSTSVTDSKAMQVESCSSAVGVSNRGVSEKQLTSNTVQQHPSTPKRHTVLYISPPPEDLLDNSRMSCQDEGCGLESEQSCSMWMEDSPSNFSNMSTSSYNDNTEVPRKSRKRNPKQRPGVKRRDCEESNMDIFDADSAKAPHYVLSQLTTDNKGNSKAGNGTLENQKGTGVKKSPMLCGQYPVKSEGKELKIVVQPETQHRARYLTEGSRGSVKDRTQQGFPTVKLEGHNEPVVLQVFVGNDSGRVKPHGFYQACRVTGRNTTPCKEVDIEGTTVIEVGLDPSNNMTLa|ravaatevhypdrlqedqkkaelmmdsprspaaldslpcl* 20BR008 ENSG00000261732.1 ENSG00000261234.1(270117),ENSG00000201999.1(93239) +/+ ./+ chr16:1632365 chr16:66208570 CDS/splice-site intergenic deletion 7 13 0 106 69 high . . . . . ENSG00000261732.1 . ENST00000454337.1 . downstream upstream duplicates(2) ^CAAGAAGAAAGGCAAGCCAGCAAGCATGGTGAAGAACAAGGAGCAGGTCCGCCACTTCTACTACCGCACCTGGCACAAGATCACCAAGTACATCGACTTTGATCATG|ATCCTCGAGGATGGTGACCCTGTCTTACTCCTTCAGGACATAGCACAAATGTTTGTGAAATGAATGAACTAATGAATGAATAAACACATCCAGTAGTTGAAGTAGAAAATACTTTGCAATGCTAGCAAACATTGCCCAATAAATTGCCTTGGTAAAATA...___GTAACTAGTCTTCCTCTTGGAAACCTCCAAGTTCCAGGAGCAGCAAGGAGTCTCTTTTGG___TGTGCAGACAATCACGG . 20BR008 ENSG00000090447.12 ENSG00000276128.2(56996),ENSG00000277737.3(7750) -/- ./- chr16:4272658 chr9:43102116 CDS/splice-site intergenic translocation 6 8 0 18 35 high out-of-frame . . . . ENSG00000090447.12 . ENST00000204517.11 . upstream downstream duplicates(1) ^(AGACATCTGATCAGCTGCAAACACACACACACACACACACACACACACACACACACACACACACACACATACACACGCCCGGGGAGGCAGGCCGGAGAGACCTCCCTCCCGCCCCTCCCGCCCGCCTCCCTCCCCTCGCCGCCGCCGCCGCCGCCAGCATCTGGGACCGGCCGATTCTGCACCTCCGTCCGGCGCTGCC)CTTTGATTCGGATTTCCATCTTGCATTCTCCGGCTGATCGCGGGACCTGGCTCGTGCAGAGGAGGGGGGCCGATCGCTATGGAGTATTTCATGGTGCCCACTCAGAAGGTGCCCTCTTTGCAACATTTCAGGAAAACAGAGAAAGAAGTGATAGGAGGGCTCTGTAG|AACATACATATGATAGTTGAAAAAGACACATATTCTGATCATGAAGAAATAAACACAAGTTAAATATGACTAAGCAGAAAGATGGAAGGACCAGGAACGGTGATGCTAACTTGGAACCACGATGCAGGCTCTAAACTCCTCTACAATCATCCTCCCTTGTGAGAAAAATACATAATTCACTTTTAAAATAAATAGAAAC MEYFMVPTQKVPSLQHFRKTEKEVIGGLCr|tyi* 20BR008 ENSG00000154198.14(5532),ENSG00000187048.13(23211) ENSG00000186377.8 ./+ +/+ chr1:46905969 chr1:47029990 intergenic CDS/splice-site deletion/read-through 1 12 1 20 31 high . . |Cytochrome_P450(100%) . . . ENSG00000186377.8 . ENST00000371901.4 downstream upstream duplicates(2) AGGAGGTTCAGCTCATTCTTTCCCTTAAAATGGGAAGATAAAGGGATTACCCTCCCCGCCGCCCGAGGCCTCATATGATATTCCCCATTCTGAGCCCAGAACACCCAGAACTTTGGAAATTGGCTATTGCCATGTCCAGACT|TTTATTCAGGATGATAACATGGAGAAGCTTGAGGAAATTATTGAAAAATACCCTCGTGCCTTCCCTTTCTGGATTGGGCCCTTTCAGGCATTTTTCTGTATCTATGACCCAGACTATGCAAAGACACTTCTGAGCAGAACAG___ATCCCAAGTCCCAGTACCTGCAGAAATTCTCACCTCCACTTCTTG___GAAAAGGACTAGCGGCTCTAGACGGACCCAAGTGGTTCCAGCATCGTCGCCTACTAACTCCTGGATTCCATTTTAACATCCTGAAAGCATACATTGAGGTGATGGCTCATTCTGTGAAAATGATGCTG___GATAAGTGGGAGAAGATTTGCAGCAC(TCAGGACACAAGCGTGGAGGTCTATGAGCACATCAACTCGATGTCTCTGGATATAATCATGAAATGCGCTTTCAGCAAGGAGACCAACTGCCAGACAAACAG___CACCCATGATCCTTATGCAAAAGCCATATTTGAACTCAGCAAAATCATATTTCACCGCTTGTACAGTTTGTTGTATCACAGTGACATAATTTTCAAACTCAGCCCTCAGGGCTACCGCTTCCAGAAGTTAAGCCGAGTGTTGAATCAGTACACAG___ATACAATAATCCAGGAAAGAAAGAAATCCCTCCAGGCTGGGGTAAAGCAGGATAACACTCCGAAGAGGAAGTACCAGGATTTTCTGGATATTGTCCTTTCTGCCAAG___GATGAAAGTGGTAGCAGCTTCTCAGATATTGATGTACACTCTGAAGTGAGCACATTCCTGTTGGCAGGACATGACACCTTGGCAGCAAGCATCTCCTGGATCCTTTACTGCCTGGCTCTGAACCCTGAGCATCAAGAGAGATGCCGGGAGGAGGTCAGGGGCATCCTGGGGGATGGGTCTTCTATCACTTG___GGACCAGCTGGGTGAGATGTCGTACACCACAATGTGCATCAAGGAGACGTGCCGATTGATTCCTGCAGTCCCGTCCATTTCCAGAGATCTCAGCAAGCCACTTACCTTCCCAGATGGATGCACATTGCCTGCAG___GGATCACCGTGGTTCTTAGTATTTGGGGTCTTCACCACAACCCTGCTGTCTGGAAAAACCCAAAG___GTCTTTGACCCCTTGAGGTTCTCTCAGGAGAATTCTGATCAGAGACACCCCTATGCCTACTTACCATTCTCAGCTGGATCAAG___GAACTGCATTGGGCAGGAGTTTGCCATGATTGAGTTAAAGGTAACCATTGCCTTGATTCTGCTCCACTTCAGAGTGACTCCAGACCCCACCAGGCCTCTTACTTTCCCCAACCATTTTATCCTCAAGCCCAAGAATGGGATGTATTTGCACCTGAAGAAACTCTCTGAATGTTAGATCTCAGGGTACAATGATTAAACGTACTTTGTTTTTCGAAGTTAAATTTACAGCTAATGATCCAAGCAGATAGAAAGGGATCAATGTATGGTGGGAGGATTGGAGGTTGGTGGGATAGGGGTCTCTGTGAAGAGATCCAAAATCATTTCTAGGTACACAGTGTGTCAGCTAGATCTGTTTCTATATAACTTTGGGAGATTTTCAGATCTTTTCTGTTAAACTTTCACTACTATTAATGCTGTATACACCAATAGACTTTCATATATTTTCTGTTGTTTTTAAAATAGTTTTCAGAATTATGCAAGTAATAAGTGCATGTATGCTCACTGTCAAAAATTCCCAACACTAGAAAATCATGTAGAATAAAAATTTTAAATCTCACTTCACTTAGCCGACATTCCATGCCCTGACCAATCCTACTGCTTTTCCTAAAAACAGAATAATTTGGTGTGCATTCTTTCAGACTTTTTCCTATACATTTTATATGTAGAAATGTAGCAATGTATTTGTATAGATGTGATCATTCCTATATTGTTATTGATTTTTTTCACTTAATAAAAATTCACCTTATTCCTTA)$ . 20BR008 ENSG00000137075.18 ENSG00000286375.1 -/- -/- chr9:36375934 chr9:97404790 CDS/splice-site exon/splice-site duplication 2 12 0 65 30 high out-of-frame . . . . ENSG00000137075.18 ENSG00000286375.1 ENST00000377885.6 ENST00000667253.1 upstream downstream duplicates(1) ^(CTTCCCCCTCGGGGTGGAAACAAAGGGGGTTCGGCGCGCGGTGCGGAGCCTGGGGGAAAAGGGAGGAGCGCTCCGGTGGTCTGGCGCGCTGGGCTCGCTAG___ATATCTCCCGGGGCCAATTCAGCATCTCTACCTGGCCATCCTAACAAGGTGATTTGTGAAAGGGTGAGACTTCAGAGCCTGTTCCCTCTCCTCCCAAGTGATCAGAACACTACCGTTCAAGAGGATGCTCACTTCAAAGCTTTCTTCCAG___AGTGAAGATAGTCCAAGTCCTAAGAGACAGCGCCTCTCTCATTCAGTCTTTGATTATACATCAGCATCACCAGCTCCCTCACCACCAATGCGACCATGGGAGATGA)CATCAAATAGGCAGCCCCCTTCAGTTCGACCAAGCCAACATCACTTCTCAGGGGAACGATGCAACACACCTGCACGCAACAGAAGAAG|GGGCCAGCACAGAGGCTGACAGCCATTGTTTCAACCTCCATGAGCTGAACCTCCAGGAAGCAGCTTCCTGGGGATTTAAAGAGACAATACTTGTGCTCCCACCCCCATGTCTTTTGGGAACCAGACATTTAAGGAAATCTTTGTCGGGTCACTGGTTGATTACAGAAATGATGGAACAGAAACTTTAG(TGACCACAAACAACAATATATATCTTGCAAAAATAGTTTTAAAAAGTCATAAATAGATGACCCAGTCCTCATAAAGTACAAGAAATCTCTGAGGTATTGAAGAATTAGATATCCAGTTAGTGCAACATGGTATTTAAAATTTCTAGCTCTCAACAAACAATTACAAAACATACAAAAAAAGAGGAAAACATGGTCCATTCACAGAAAAAAAGAAGTTTACAGAAATCTTTTCTAAGAAAGACCAGACATTGGAATTATTAGTCAATGGCATTAAGTCAACTGCCTTAAATATGTTTAATGAGATAAGGAAAACCATAAACCAAGAACTAAAAGGAATCAGTAGAATTATATATGAACAAAGAAAGAATATCAATTAATAAATAGAAATAAAAAAGAACTAAACTGAAATTCTGGAGGTGAAAACTGTAATAACTGAAATGAAAAATTAACTAGAGGCATTCAACAGCAGGTTTGAGCAAGTGGAAAAAAGTGTCTATGAACTTGAAGACGGGGCAATTGAAATTATCCAGTCTGGGGAGCACAAAGACAAAAGAATAAGTAAAAGTGAACAGAGGCTAAGGGCCCTGTAGGACACCATCAAGTGAATCAAATTTACAATATGAGAGTTTCAGAAAGAGTAGAGAGAGTTGGGAAAGAAAGAACATCTGACGAAATAATGACTGGCAAATGTCCCAAATTCGATGAAAGAAATGAATCTACAGATCCGAGAAACTCAACAAACCTCCAAGGATAAACTCAACAAACTCCTAGGATAAACTCAAAGAGCTTCACCCCAAGACATATTATAATCAAAGTGTCAAAAGTCAGAGACAAAGAGAATCTTGAAAACAGAAAAAGAGAAATGATTAGTCACACACAAGGACTCCTCAATAA)$ MRPWEMTSNRQPPSVRPSQHHFSGERCNTPARNRRr|gqhrg* 20BR008 ENSG00000137075.18 ENSG00000196116.8 -/- +/- chr9:36375934 chr9:97413004 CDS/splice-site intron duplication/5'-5' 5 9 0 65 17 high out-of-frame . . . . ENSG00000137075.18 ENSG00000196116.8 ENST00000377885.6 . upstream downstream duplicates(2) ^(CTTCCCCCTCGGGGTGGAAACAAAGGGGGTTCGGCGCGCGGTGCGGAGCCTGGGGGAAAAGGGAGGAGCGCTCCGGTGGTCTGGCGCGCTGGGCTCGCTAG___ATATCTCCCGGGGCCAATTCAGCATCTCTACCTGGCCATCCTAACAAGGTGATTTGTGAAAGGGTGAGACTTCAGAGCCTGTTCCCTCTCCTCCCAAGTGATCAGAACACTACCGTTCAAGAGGATGCTCACTTCAAAGCTTTCTTCCAG___AGTGAAGATAGTCCAAGTCCTAAGAGACAGCGCCTCTCTCATTCAGTCTTTGATTATACATCAGCATCACCAGCTCCCT)CACCACCAATGCGACCATGGGAGATGACATCAAATAGGCAGCCCCCTTCAGTTCGACCAAGCCAACATCACTTCTCAGGGGAACGATGCAACACACCTGCACGCAACAGAAGAAG|AAATTATTTGAGAATGGTACCTTTAGCTATTAATGGAAATATACCTCTCAAGTGAATGGGAGCAGAAAGATATGCCGGCTCCAAGCTCCCTCCTAGCAAGCTGAAGCTGAGAGTCTGACCCTGCTGAGGGGATGCTACTGAAAGTTGAGAGACAACTTACTCACGGATCCATGTTTCCCTCCCAGCTGGGTGCTCTGTACCCACTGGGTGCTCCTCGTTTGAGAGAAATGGGGATGTGTGTCCTGCAT MRPWEMTSNRQPPSVRPSQHHFSGERCNTPARNRRr|nylrmvplaingniplk* 20BR008 ENSG00000137075.18 ENSG00000228957.1(5438),ENSG00000286375.1(2159) -/- ./- chr9:36375934 chr9:97401550 CDS/splice-site intergenic duplication 9 4 0 65 18 high out-of-frame . . . . ENSG00000137075.18 . ENST00000377885.6 . upstream downstream duplicates(2) ^(CTTCCCCCTCGGGGTGGAAACAAAGGGGGTTCGGCGCGCGGTGCGGAGCCTGGGGGAAAAGGGAGGAGCGCTCCGGTGGTCTGGCGCGCTGGGCTCGCTAG___ATATCTCCCGGGGCCAATTCAGCATCTCTACCTGGCCATCCTAACAAGGTGATTTGTGAAAGGGTGAGACTTCAGAGCCTGTTCCCTCTCCTCCCAAGTGATCAGAACACTACCGTTCAAGAGGAT)GCTCACTTCAAAGCTTTCTTCCAG___AGTGAAGATAGTCCAAGTCCTAAGAGACAGCGCCTCTCTCATTCAGTCTTTGATTATACATCAGCATCACCAGCTCCCTCACCACCAATGCGACCATGGGAGATGACATCAAATAGGCAGCCCCCTTCAGTTCGACCAAGCCAACATCACTTCTCAGGGGAACGATGCAACACACCTGCACGCAACAGAAGAAG|CTAAGAATGACCTAAGTTCCAGCCAATTAGATGTGACCACAGTGTGGTGTGGGACTCTGGGGAGACTGCTCAGATGGAAGTGACCCAGCTGAGAGGGCCCCCTTTGCCCTGCCTTGCCTGCT MRPWEMTSNRQPPSVRPSQHHFSGERCNTPARNRRs|* 20BR008 ENSG00000080603.17 ENSG00000275329.1(14646),ENSG00000107187.17(57241) +/+ ./- chr16:30704315 chr9:136139009 CDS/splice-site intergenic translocation 4 8 0 21 28 high out-of-frame . . . . ENSG00000080603.17 . ENST00000262518.9 . downstream downstream . ^(GTCAGTCCGTCGGGAGGGCTAGGGAGATGGTCACGAAACCTGAAGTCAAGAGTTAAGGCTTGTTGGCTTCTG___GTGTGATTCCCTTCAGTACGGCGGCACCGTGGAAGTGCAGACTTTCACAGGGGGTGTGGTCTCAGCTCACACAG___GTGCTCCAGAGGCTGGTGGACCTGAGCGGAGGCTGGGACGCCCTGGTGGGCCCCGGGCCCTGGAAGGCGGGTCCCGGTGGCCGGTGGCCCAGAATGAGGCCAGCTCCCAGCATGCCCTGCAGCCGGACGCCAGCCCCTCGGCCAGCAGTACTGGTGATAACAACCCAGTCATTCTTCAGGCATCCAAGGGGGAGCCTGGGAGTGGGACCATGCAGAGCAGCCCCTCCCCTGCTCACCCTCAGCTCCCAGTCCTACAGACACAG___ATGGTGTCGGACGGCATGACAGGCAGCAATCCTGTGTCCCCTGCCTCATCCAGTTCCCCAGCCTCTAGTGGGGCAGGCGGCATCTCCCCGCAGCACATAGCTCA)AGATTCCTCACTGGATGGACCTCCAGGCCCCCCAGATGGTGCCACAGTGCCCCTGGAGGGGTTCAGCTTATCCCAGGCTGCTGACCTGGCTAACAAGGGCCCGAAGTGGGAGAAGAGCCATGCCGAAATTGCAGAACAGGCCAAGCAT|GAAAGAGAAATTTCCTTCTACAGAAGGTATTCTCCCGCCCTGGGAGCAGCCAAGAGTCAAAGGTCACCACTGCATACTGGACAGGAGGGCTTGTGTCCTTCTGAGGCTTTCAGTAATGAAGGGCTGTCGCCGGAGCTGCTGTTCCAGATGCTTGGGGGGCT MQSSPSPAHPQLPVLQTQMVSDGMTGSNPVSPASSSSPASSGAGGISPQHIAQDSSLDGPPGPPDGATVPLEGFSLSQAADLANKGPKWEKSHAEIAEQAKH|ereisfyrryspalgaaksqrsplhtgqeglcpseafsneglspellfqmlgg 20BR008 ENSG00000282034.1 ENSG00000275329.1(14646),ENSG00000107187.17(57241) +/+ ./- chr16:30704315 chr9:136139009 CDS/splice-site intergenic translocation 4 8 0 21 28 high . . . . . ENSG00000282034.1 . ENST00000380361.7 . downstream downstream . ^(GTGTCGGACGGCATGACAGGCAGCAATCCTGTGTCCCCTGCCTCATCCAGTTCCCCAGCCTCTAGTGGGGCAGGCGGCATCTCCCCGCAGCACATAGCTCA)AGATTCCTCACTGGATGGACCTCCAGGCCCCCCAGATGGTGCCACAGTGCCCCTGGAGGGGTTCAGCTTATCCCAGGCTGCTGACCTGGCTAACAAGGGCCCGAAGTGGGAGAAGAGCCATGCCGAAATTGCAGAACAGGCCAAGCAT|GAAAGAGAAATTTCCTTCTACAGAAGGTATTCTCCCGCCCTGGGAGCAGCCAAGAGTCAAAGGTCACCACTGCATACTGGACAGGAGGGCTTGTGTCCTTCTGAGGCTTTCAGTAATGAAGGGCTGTCGCCGGAGCTGCTGTTCCAGATGCTTGGGGGGCT . 20BR008 ENSG00000005339.15 ENSG00000171208.10 -/- -/+ chr16:3850297 chr16:47109787 CDS/splice-site intron inversion/5'-5' 2 9 0 13 26 high out-of-frame . . . . ENSG00000005339.15 ENSG00000171208.10 ENST00000262367.10 . upstream upstream . ^(AATTGAGGAATCAACAGCCGCCATCTTGTCGCGGACCCGACCGGGGCTTCGAGCGCGATCTACTCGGCCCCGCCGGTCCCGGGCCCCACAACCGCCCGCGCACCCCGCTCCGCCCGGCCGGCCCGCTCCGCCCGGCCCTCGGCGCCCGCCCCGGCGGCCCCGCTCGCCTCTCGGCTCGGCCTCCCGGAGCCCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGAACGGGGGGTGGGGGGGCCGCGGCGGCGGCGGCGACCCCGCTCGGCGCATTGTTTTTCCTCACGGCGGCGGCGGCGGCGGGCCGCGGGCCGGGAGCGGAGCCCGGAGCCCCCTCGTCGTCGGGCCGCGAGCGAATTCATTAAGTGGGGCGCGGGGGGGGAGCGAGGCGGCGGCGGCGGCGGCACCATGTTCTCGGGGACTGCCTGAGCCGCCCGGCCGGGCGCCGTCGCTGCCAGCCGGGCCCGGGGGGGCGGCCGGGCCGCCGGGGCGCCCCCACCGCGGAGTGTCGCGCTCGGGAGGCGGGCAGGGGATGAGGGGGCCGCGGCCGGCGGCGGCGGCGGCGGCCGGGGGCGGGCGGTGAGCGCTGCGGGGCGCTGTTGCTGTGGCTGAGATTTGGCCGCCGCCTCCCCCACCCGGCCTGCGCCCTCCCTCTCCCTCGGCGCCCGCCCGCCCGCTCGCGGCCCGCGCTCGCTCCTCTCCCTCGCAGCCGGCAGGGCCCCCGACCCCCGTCCGGGCCCTCGCCGGCCCGGCCGCCCGTGCCCGGGGCTGTTTTCGCGAGCAGGTGAAAATGGCTGAGAACTTGCTGGACGGACCGCCCAACCCCAAAAGAGCCAAACTCAGCTCGCCCGGTTTCTCGGCGAATGACAGCACAG___ATTTTGGATCATTGTTTGACTTGGAAAATGATCTTCCTGATGAGCTGATACCCAATGGAGGAGAATTAGGCCTTTTAAACAGTGGGAACCTTGTTCCAGATGCTGCTTCCAAACATAAACAACTGTCGGAGCTTCTACGAGGAGGCAGCGGCTCTAGTATCAACCCAGGAATAGGAAATGTGAGCGCCAGCAGCCCCGTGCAGCAGGGCCTGGGTGGCCAGGCTCAAGGGCAGCCGAACAGTGCTAACATGGCCAGCCTCAGTGCCATGGGCAAGAGCCCTCTGAGCCAGGGAGATTCTTCAGCCCCCAGCCTGCCTAAACAGGCAGCCAGCACCTCTGGGCCCACCCCCGCTGCCTCCCAAGCACTGAATCCGCAAGCACAAAAGCAAGTGGGGCTGGCGACTAGCAGCCCTGCCACGTCACAGACTGGACCTGGTATCTGCATGAATGCTAACTTTAACCAGACCCACCCAGGCCTCCTCAATAGTAACTCTGGCCATAGCTTAATTAATCAGGCTTCACAAGGGCAGGCGCAAGTCATGAATGGATCTCTTGGGGCTGCTGGCAGAGGAAG)GGGAGCTGGAATGCCGTACCCTACTCCAGCCATGCAGGGCGCCTCGAGCAGCGTGCTGGCTGAGACCCTAACGCAGGTTTCCCCGCAAATGACTGGTCACGCGGGACTGAACACCGCACAGGCAGGAGGCATGGCCAAG|ACAACATGGGACACCGAATGACAGCTGACAGAAAACCATAATCGATAAATGGCTGATGCCTAAATAGTGAGAGGAACTAAGATTAATGATCTGTTTCTTTGG...AAGGAACTTACTTTGTGTTTTGTCTATAAAGAGTAGAAACTTTTTGCTCACAAGGCATAACTATCTCACATTTTTCTCATTATAAAAGCAATCTCATGGTACTGGACAGGGGAGAAAATAAAATAATCACTCATATTTCTATTATTCCAACAATGCATGTGATTAATTGGTGAGTTTCTTTTCACTCTTTCTGCACATTAAAAAAACCTGTGTTTAATTGTAAGATATACACATCCTACTTTAGCTGTAACATATAAAAATGTTTTTATCTATACTCTTAGCCATACC MAENLLDGPPNPKRAKLSSPGFSANDSTDFGSLFDLENDLPDELIPNGGELGLLNSGNLVPDAASKHKQLSELLRGGSGSSINPGIGNVSASSPVQQGLGGQAQGQPNSANMASLSAMGKSPLSQGDSSAPSLPKQAASTSGPTPAASQALNPQAQKQVGLATSSPATSQTGPGICMNANFNQTHPGLLNSNSGHSLINQASQGQAQVMNGSLGAAGRGRGAGMPYPTPAMQGASSSVLAETLTQVSPQMTGHAGLNTAQAGGMAK|ttwdte* 20BR008 ENSG00000107341.5 ENSG00000103460.17 +/+ -/+ chr9:33886967 chr16:52499656 CDS/splice-site intron translocation/5'-5' 5 5 0 182 45 high out-of-frame . Ubiquitin-conjugating_enzyme(100%)| . . ENSG00000107341.5 ENSG00000103460.17 ENST00000263228.4 . downstream upstream . ^(GCTTCTCGGCTCCGTTGCTCCCGCGGCGCGAGGCGCTCTCGCTCTCCTCCTCCTCCGCCGTCGCCCCTCCCCCCGCGCAGCCCCCGCCGCCACCGCCGCGAGACCCCCGCACGCCGCTCTCCCCCCACCCTCTCCTGCCCCGCGCGCCCTCCGGCCCCTGCGGCCCCCGAAGAGAACGAGAGGGCGAGCGAGCGCGGCGTTCCCGGGCCGGCCCGGCCCCCTCCCTTCACCATCGCCGGCCCTCCGCCGCCTTCCTCCGCTTCCACCTCCTCTCCCCCCCCCCAAGTTGAGGCCCCCTCCGGGGGGGGGAGGCCCGGGACCGGGACCCGTAGCGAATTCTCCTAACTCCCTCGACCTCTCCTCTCGCCCGGCCCGAGTGTGAGGAGAAGGGCCCGGCCCGGCCTGCGTCGTGTGTGAGGAGGACCCCGGGCGGGCCCACGGGCCGTGTGGGGCCTGGTCTGGCCCGCCGGGTGTGTGAAGACCGGGGCCCGGTGCTGCCCGGCCGGAGGGCGAGCGGAGGGGAGGGGCCTGGTCCGGCCCGGCCGGTGCGTGAGGACTGGGGCCCGGGCCCGGCGCCGCCGCCGCCGCCGCCGCCGCGATGGCCCAGCAGCAGATGACCAGCTCGCAGAAGGCCCTGATGCTCGAGCTGAAATCCCTGCAGGAGGAACCGGTGGAGGGCTTCCGGATCACCCTGGTGGACGAGTCCGACCTCTACAACTGGGAGGT)GGCCATCTTCGGACCCCCCAACACCCTCTACGAAGGCGGCTACTTCAAG___GCGCATATTAAATTTCCTATTGACTACCCCTATTCACCACCTACCTTCAGATTCTTGACCAAAATGTGGCACCCCAACATTTATGAG|TGTCCTCCACAGGAGTCCGGAAAGATCTAAGACCCACCCCAGCATACTCTCACCTGGACGCCATGGTTCTACTGAGCTGAAAATATGTTTTCCCTATGGCTTCAAACACATACCTGCCTAGGCAGGCAGAGGGTGAACACAGAAGCTGCTGAACAACTTTCC...ACAAGGAAAGGATGCAAAGCTCTTTATAAAAGCTCTTTCCAAGTCACTTCTCCATCAGGTTCTGAGAGTGTACAATCTGAGAAGAGCAGAAAACCATGACAAGCACCAATCTTTGGCCTGAACACAAGGGTCGCTGGCTACAAAGTGAC MAQQQMTSSQKALMLELKSLQEEPVEGFRITLVDESDLYNWEVAIFGPPNTLYEGGYFKAHIKFPIDYPYSPPTFRFLTKMWHPNIYE|cppqesgki* 20BR008 ENSG00000286612.1 ENSG00000288575.1(179418),ENSG00000180447.7(6597) -/- ./- chr9:82646413 chr9:86937765 exon/splice-site intergenic duplication 1 7 0 42 39 high . . . . . ENSG00000286612.1 . ENST00000661177.1 . upstream downstream duplicates(1) ^(TTTGCAGGTTTGTGCAAACCTCATTCTGGTTCTTGAAAT)ATGTAAAAGACCCTCGAAGCATAATTCTGTGCTATTCCCCACATTGAGAGAGTGAGATGGAGCTCAGTTGGATGTCACCTCCCCTGTTTGGGACAAAGATCACACTCTGCCTTGAAACCCAGTAATCAAAAAG|ATTTAAATGTTCTCTAAATTTCATCAATGAATATATATTATCCTGCTTTCACAATGAAAATGTTTTTAAAATATTATTCAGAACCATGAAGAAGAAACAACAGAATGTGGATTCAGTCCCTGTTGGTGCTAACCTGCCCCTGACAACCATTACCTATACTTTGGAGGAACGGGC . 20BR008 ENSG00000102910.14 ENSG00000233403.1(221508),ENSG00000176774.6(23291) +/+ ./- chr16:48252365 chrX:26115052 CDS/splice-site intergenic translocation 3 5 0 260 14 high out-of-frame . ATP-dependent_protease_La_(LON)_substrate-binding_domain_(100%)| . . ENSG00000102910.14 . ENST00000285737.9 . downstream downstream . ^(GGGTCTGAGGTTTGGTGACTGCGGGGCAGGCCGGGGGCAGCTGTCTGTCTGGCTCTTTTTGACAGCCCCCAGTGCGAAAGGCTGCCAGCATGTCATCAGTGAGCCCCATCCAGATCCCCAGTCGCCTCCCGCTGCTGCTCACCCACGAGGGCGTCCTGCTGCCCGGCTCCACCATGCGCACCAGCGTGGACTCGGCCCGCAACCTGCAGCTGGTGCGGAGCCGCCTTCTGAAGGGCACGTCGCTGCAAAGCACCATCCTGGGCGTCATCCCCAACACGCCTGACCCCGCCAGCGACGCGCAGGACCTGCCGCCGCTGCACAG___GATTGGCACAGCTGCACTGGCCGTTCAGGTTGTGGGCAGTAACTGGCCCAAGCCCCACTACACTCTGTTGATTA)CAGGCCTATGCCGTTTCCAGATTGTACAGGTCTTAAAAGAGAAGCCATATCCCATTGCTGAAGTGGAGCAGTTGGACCGACTTGAGGAGTTTCCCAACACCTGTAAAATGAGGGAGGAGCTAGGAGAACTATCAGAGCAGTTTTACAAATATGCAGTACAA|CAGGAACACATTTTCCCCCTTAGCCCTGAAGAGTACGCAGACCATTGTTAGCAAGGAAGCTAGCTTGTTTTTTGCACCAAAG___GAAAGCTAAGGGAACCTCCTAAAATGCCATGTACGGGTAGAGAAGAGATCATGGTTGATAACAACAAACAAAAAG MSSVSPIQIPSRLPLLLTHEGVLLPGSTMRTSVDSARNLQLVRSRLLKGTSLQSTILGVIPNTPDPASDAQDLPPLHRIGTAALAVQVVGSNWPKPHYTLLITGLCRFQIVQVLKEKPYPIAEVEQLDRLEEFPNTCKMREELGELSEQFYKYAVQ|qehifplspeeyadhc* 20BR008 ENSG00000162063.13 ENSG00000169059.12(445533),ENSG00000237490.3(8678) +/+ ./- chr16:2439826 chrX:6980651 CDS/splice-site intergenic translocation 3 3 0 6 18 high out-of-frame . F-box_domain(100%)| . . ENSG00000162063.13 . ENST00000397066.9 . downstream downstream . ^(AGGCGGGCTCCGGCGGCAGCGACGCGAGCGCGGCGATGGGGAGCGGCGGCG___TGGTCCACTGTAGGTGTGCCAAGTGTTTCTGTTATCCTACAAAGCGAAGAATAAGGAGGAGGCCCCGAAACCTGACCATCTTGAGTCTCCCCGAAGATGTGCTCTTTCACATCCTGAAATGGCTTTCTGTAGAGGACATCCTGGCCGTCCGAGCT___GTACACTCCCAGCTGAAGGACCTGGTGGACAACCACGCCAGTGTGTGGGCATGTGCCAGCTTCCAGGAGCTGTGGCCGTCTCCAGGGAACCTGAAGCTCTTTGAAAG___GGCTGCTGAAAAGGGGAATTTCGAAGCTGCTGTGAAGCTGGGCATAGCCTACCTCTACAATGAAGGCC___TGTCTGTGTCTGATGAGGCCCGCGCAGAAGTGAATGGCCTGAAGGCCTCTCGCTTCTTCAGTCTCGCTGAGCGGCTGAATGTGGGTGCCGCACCTTTCATCTGGCTCTTCATCCGCCCTCCGTGGTCGGTGAGCGGAAGCTGCTGCAAGGCCGTGGTTCACGAGAGCCTCAGGGCAGAGTGCCAGCTGCAGAGG___ACTCACAAAGCATCCATATTGCACTGCTTGGGCAGAGTGCTGAGTCTGTTCGAG___GATGAGGAGAAGCAGCAGCAGGCCCATGACCTGTTTGA)GGAGGCTGCTCATCAGGGATGTCTGACCAGCTCCTACCTCCTCTGGGAAAGCGACAGGAGGACAGAT___GTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAG|TTGGTTGAATCCTCAGATGCGAAACCCATGGATACAGAGGGCCGGCTGTAATGCACCTTGAGTGCTGCAAAACTGATAACAGAGCTACCATTGGAGGTGCTAATGGTCAACAACAAAGGAGGAAGTTAATATTGTAAAAG MGSGGVVHCRCAKCFCYPTKRRIRRRPRNLTILSLPEDVLFHILKWLSVEDILAVRAVHSQLKDLVDNHASVWACASFQELWPSPGNLKLFERAAEKGNFEAAVKLGIAYLYNEGLSVSDEARAEVNGLKASRFFSLAERLNVGAAPFIWLFIRPPWSVSGSCCKAVVHESLRAECQLQRTHKASILHCLGRVLSLFEDEEKQQQAHDLFEEAAHQGCLTSSYLLWESDRRTDVSDPGRCLHSFRKLRDYAAKGCWEAQ|lvessdakpmdtegrl* 20BR008 ENSG00000104218.14 ENSG00000104205.16 +/+ +/+ chr8:67132080 chr8:66798542 CDS/splice-site CDS/splice-site duplication 3 3 0 51 29 high in-frame . |PX_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000104218.14 ENSG00000104205.16 ENST00000262210.9 ENST00000521198.7 downstream upstream duplicates(1),mismatches(1) ^(GAGGGGCGGAGCCCCGGCCCGGAGGTCTGTCATGCTGTTCCCGCTCCAGGTGGCCGCTGTAACCTCTTCGGTCCGCGACGATCCTCTAGAGCACTGTGTGTCTCCCCGGACGCGAGCCCGCTCCCCTGA___AATCTGCAAAATGGCTGATAATTTGGATGAATTTATTGAAGAGCAAAAAGCCAGATTGGCCGAAGACAAAGCAGAGTTGGAAAGTGATCCACCTTACATGGAAATGAAG___GGAAAGTTGTCAGCGAAGCTTTCTGAAAACAGTAAGATACTGATCTCTATGGCTAAGGAAAACATACCACCAAATAGTCAACAGACCAGGGGTTCCTTAG___GAATTGATTATGGATTAAGTTTACCACTTGGAGAAGACTATGAACGGAAGAAACATAAATTAAAAGAAGAATTGCGGCAAGATTACAGACGTTATCTTACTCAG___GAAAGGTTGAAACTTGAACGTAACAAAGAATACAATCAGTTTCTCAGGGGTAAGGAAGAATCCAGTGAAAAGTTCAGGCAGGTGGAAAAGAGTACTGAG___CCCAAGAGTCAGAGAAATAAAAAACCTATTGGTCAAGTTAAGCCTGATCTAACTTCACAAATACAGACATCTTGTGAAAATTCAGAGGGTCCTAGAAAAGATGTCTTAACTCCTTCAGAGGCATATGAAGAACTTCTGAACCAAAGACGACTAGAGGAGGACAGATACCGACAACTAGATGATGAAATCGAATTAAGGAATAGAAGAATTATTAAAAAAGCAAATGAAGAAGTGGGCATTTCCAACCTAAAACATCAAAGGTTTGCAAGCAAGGCTGGCATTCCAGATAGAAGATTTCACAGATTTAATGAGGATCGTGTTTTTGATAGACGGTATCATAGACCAGACCAAGATCCTGAAGTAAGTGAAGAAATGGATGAGAGGTTTAGATATGAAAGTGATTTTGATAGAAGACTTTCGAGAGTGTATACAAATGACAG___GATGCACAGGAACAAACGAGGGAATATGCCTCCTATGGAACATGATGGGGATGTTATAGAACAGTCAAACATAAGAATTTCATCTGCTGAAAATAAAAG___TGCTCCAGACAATGAAACATCCAAATCTGCTAATCAAGATACCTGTAGTCCTTTTGCAGGGATGCTCTTTG___GAGGTGAAGATCGAGAACTTATTCAGAGAAGGAAAGAGAAATACAGACTAGAACTGTTGGAACAAATGGCTGAGCAACAGAGGAACAAGAGACG___AGAAAAAGATTTAGAACTCAGGGTTGCAGCGTCTGGAGCACAAGACCCTGAGAAATCG___CCTGATAGACTAAAGCAGTTTAGTGTGGCACCAAGACACTTTGAAGAGATGATACCACCTGAAAGACCCAGAATAGCTTTCCAGACACCTCTCCCTCCTTTATCTGCCCCATCTGTCCCACCCATCCCATCAGTTCATCCTGTTCCTTCTCAAAATGAAGATTTGCGCAGTGGACTCAGCAGCGCCCTTGGTGAAATGGTGTCTCCCAG___GATTGCACCTCTGCCTCCACCTCCCCTACTACCACCTTTGGCTACTAACTATCGA)ACTCCTTATGATGATGCATACTATTTTTATGGGTCCAGGAATACTTTCGATCCCAGTCTTGCTTATT___ATGGTTCAGGAATGATGGGCGTACAGCCTGCAGCTTATGTTAGTGCTCCTGTCACCCACCAACTAGCACAACCTGTTGT___GAATACGGTTGGACAGAATGAACTGAAGATTACAAGTGATCAAGTGATAAATTCAGGATTGATTTTTGAAGATAAACCGAAACCTTCCAAACAGTCACTTCAGTCTTACCAAGAGGCTTTGCAGCAGCAG|GTTTATAAAGTTCTGGTTTCAGTGGGAAGAAGTGAATGGTTTGTCTTCAGGAGATATGCAGAGTTTGATAAACTTTATAACACT___TTAAAAAAACAGTTTCCTGCTATGGCCCTGAAGATTCCTGCCAAGAGAATATTTGGTGATAATTTTGATCCAG___ATTTTATTAAACAAAGACGAGCAGGACTAAACGAATTCATTCAGAACCTAGTTAGGTATCCAGAACTTTATAACCA___TCCAGATGTCAGAGCATTCCTTCAAATGGACAGTCC(AAAACACCAGTCAGATCCATCTGAAGATGAGGATGAAAGAAGTTCTCAGAAG___CTACACTCTACCTCACAGAACATCAACCTGGGACCGTCTGGAAATCCTCA___TGCCAAACCAACTGACTTTGATTTCTTAAAAGTTATTGGAAAAGGCAGCTTTGGCAAG___GTTCTTCTTGCAAAACGGAAACTGGATGGAAAATTTTATGCTGTCAAAGTGTTACAGAAAAAAATAGTTCTCAACAGAAAAGAG___CAAAAACATATTATGGCTGAACGTAATGTGCTCTTGAAAAATGTGAAACATCCGTTTTTGGTTGGATTGCATTATTCCTTCCAAACAACTGAAAAGCTTTATTTTGTTCTGGATTTTGTTAATGGAGGGGAG___CTTTTTTTCCACTTACAAAGAGAACGGTCCTTTCCTGAGCACAGAGCTAGGTTTTACGCTGCTGAAATTGCTAGTGCATTGGGTTACTTACATTCCATCAAAATAGTATACAG___AGACTTGAAACCAGAAAATATTCTTTTGGATTCAGTA___GGACATGTTGTCTTAACAGATTTTGGGCTTTGTAAAGAAGGAATTGCTATTTCTGACACCACTACCACATTTTGTGGGACACCAGAG___TATCTTGCACCTGAAGTAATTAGAAAACAGCCCTATGACAATACTGTAGATTGGTGGTGCCTTGGGGCTGTTCTGTATGAAATGCTGTATGGATTG___CCTCCTTTTTATTGCCGAGATGTTGCTGAAATGTATGACAATATCCTTCACAAACCCCTAAGTTTGAGGCCAGGAGTGAGTCTTACAGCCTGGTCCATTCTGGAAGAACTCCTAGAAAAAGACAGGCAAAATCGACTTGGTGCCAAGGAAGACTTT___CTTGAAATTCAGAATCATCCTTTTTTTGAATCACTCAGCTGGGCTGACCTTGTACAAAAGAAGATTCCACCACCATTTAATCCTAATGTG___GCTGGACCAGATGATATCAGAAACTTTGACACAGCATTTACAGAAGAAACAGTTCCATATTCTGTGTGTGTATCTTCTGACTATTCTATAGTGAATGCCAGTGTATTGGAGGCAGATGATGCATTCGTTGGTTTCTCTTATGCACCTCCTTCAGAAGACTTATTTTTGTGAGCAGTTTGCCATTCAGAAACCATTGAGCAAAATAAGTCTATAGATGGGACTGAAACTTCTATTTGTGTGAATATATTCAAATATGTATAACTAGTGCCTCATTTTTATATGTAATGATGAAAACTATGAAAAAATGTATTTTCTTCTATGTGCAAGAAAAATAGGGCATTTCAAAGAGCTGTTTTGATTAAAATTTATATTCTTGTTTAATAAGCTTATTTTTAAACAATTTAAAAGCTATTATTCTTAGCATTAACCTATTTTTAAAGAAACCTTTTTTGCTATTGACTGTTTTTTCCCTCTAAGTTTACACTAACATCTACCCAAGATAGACTGTTTTTTAACAGTCAATTTCAGTTCAGCTAACATATATTAATACCTTTGTAACTCTTTGCTATGGCTTTTGTTATCACACCAAAACTATGCAATTGGTACATGGTTGTTTAAGAAGAAACCGTATTTTTCCATGATAAATCACTGTTTGAAATATTTGGTTCATGGTATGATCGAAATGTAAAAGCATAATTAACACATTGGCTGCTAGTTAACAATTGGAATAACTTTATTCTGCAGATCATTTAAGAAGTAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACATGGACAAACCCCGTCTCTACTAAAAATACAAAATTGGCAGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCTGCCTGGGCAACAAGAGTGAAACTCCATCTCCAAAAAAAAAAAGAAAAAGTAACAAAAGGAAATTATTTGTTTTTGAAATACCAGTTCAACTTTGTGGATTATTTTTCCTCTGAAGGAAAAGAAAAGGCTTAATGGTTAGGATTTTTAAGTATTCCCAAAGATCTGAAGGGTAATAAAATGTACTGGATTTTTTAAGGTGGTACCAAAAATGAATGTCTGTCATATATTTATATTACAAATACATTATATTTATGTTCTATTCATCTTTTGAATGTTTAGTATGCTATTAAGTCATTCTGAATCTTTGTATTTGCTTTTGCAAATAGGTATTTCAAAGCTCTTTTCCTAACTGGTTAAGTAAAATAAAAAATTGAGCTTTCTAGAATATTTGCCTAATTGGGAATTAAAAAGTAAAATAATAGGCCAGGCATGGTGGCTCATGCCTATAAGCACCCTGGGAGGCCGAGGCAGGCAGATTATTTGAGCTCAGGAGTTTGAGACCATCCTGGGCAACATGGCGAAACCCTATCTCTACAAAAAATACAAAAATTAGCCAGACATGGTGGCACATGCCTTTAGTCCCAGCTACTCTGGAGGCTGAAGTTGGAGGATGGCTTGAGCCCACGAGATGGAAGTTGCAGTGAACTGAAATTGTGCCACTGCACTTTTCAGCCTGGGTGCCACAGCGAGACCCTAGTTAAGAGAAAAAAAAAGTAAAAACAAATTGTGGGTCAAAGTAAATGTATACAGTTTTATTACAATGTAACAAAAGTTGAAAATCAGGCAGATGTGTATTCAGTATCCAATTCAATATATCTTAGAAAAAGCACAGGAAACAGACCTTAAAATTGTAACCTACCAACTAACTTACATGCTTATAAAAGTAAAGGAGAATAACTGGCCGGGCACGGTGGCTCATGCCTATAAAATTCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCTATGAGTTCAAGACCAGCCTAGGCAATGTAGTGACACCTCATTTCTATTTATTTTAAAAAAAAGAGAGAGTAACTACAGAAGAACTTTAAAAAATAAAAAATAAGCTTACCTTGGATTCTTGGCTTAGAGTAGAGGTTTTTTTTAAGTTATGGAGGAAACATTTTTGTAAAAGTTTAATGACCCACTTTAGATGCTCCAAGAACAAGCATCCCTTCCATGTATGTCTTGAGAAAGAAATCACAGAAGCATTTCTCACCAATACTCTTTGGCTTAAAATGTTCAGCAGAATTGGGCAGTGGGGGTGACTTTTCTTATATTAATAATATTTACATCCAATACACTGAATCTTCCTTTAGAGGTAAGACTTTAATATCTATACTGTAAATATTTGGTTTATTTGGCACTACTGTAAGTTTTGTTTTTCACAAAGCTCTTATTATGAAGCAAAATAAAAATTCTAGTTTCTTGTATGATTTTTTGTACTCATTCATTCCTGTTAAGCTGCCAAAAATTAAAGTGCAATATTGTATATTTTTAAGAACAAATTTAAAATAGAATTTTGATGTTTCTCAGATCACAAGAAATACAAATCTATATAGTATAATAAAATCAGCAAAAAGATCAA)$ MLFPLQVAAVTSSVRDDPLEHCVSPRTRARSPEICKMADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGSLGIDYGLSLPLGEDYERKKHKLKEELRQDYRRYLTQERLKLERNKEYNQFLRGKEESSEKFRQVEKSTEPKSQRNKKPIGQVKPDLTSQIQTSCENSEGPRKDVLTPSEAYEELLNQRRLEEDRYRQLDDEIELRNRRIIKKANEEVGISNLKHQRFASKAGIPDRRFHRFNEDRVFDRRYHRPDQDPEVSEEMDERFRYESDFDRRLSRVYTNDRMHRNKRGNMPPMEHDGDVIEQSNIRISSAENKSAPDNETSKSANQDTCSPFAGMLFGGEDRELIQRRKEKYRLELLEQMAEQQRNKRREKDLELRVAASGAQDPEKSPDRLKQFSVAPRHFEEMIPPERPRIAFQTPLPPLSAPSVPPIPSVHPVPSQNEDLRSGLSSALGEMVSPRIAPLPPPPLLPPLATNYRTPYDDAYYFYGSRNTFDPSLAYYGSGMMGVQPAAYVSAPVTHQLAQPVVNTVGQNELKITSDQVINSGLIFEDKPKPSKQSLQSYQEALQQQ|VYKVLVSVGRSEWFVFRRYAEFDKLYNTLKKQFPAMALKIPAKRIFGDNFDPDFIKQRRAGLNEFIQNLVRYPELYNHPDVRAFLQMDSPKHQSDPSEDEDERSSQKLHSTSQNINLGPSGNPHAKPTDFDFLKVIGKGSFGKVLLAKRKLDGKFYAVKVLQKKIVLNRKEQKHIMAERNVLLKNVKHPFLVGLHYSFQTTEKLYFVLDFVNGGELFFHLQRERSFPEHRARFYAAEIASALGYLHSIKIVYRDLKPENILLDSVGHVVLTDFGLCKEGIAISDTTTTFCGTPEYLAPEVIRKQPYDNTVDWWCLGAVLYEMLYGLPPFYCRDVAEMYDNILHKPLSLRPGVSLTAWSILEELLEKDRQNRLGAKEDFLEIQNHPFFESLSWADLVQKKIPPPFNPNVAGPDDIRNFDTAFTEETVPYSVCVSSDYSIVNASVLEADDAFVGFSYAPPSEDLFL* 20BR008 ENSG00000155393.13 ENSG00000196502.11 +/+ -/- chr16:50086351 chr16:28610191 CDS/splice-site 5'UTR/splice-site inversion 5 1 0 70 51 high out-of-frame . HEAT-like_repeat(100%)| . . ENSG00000155393.13 ENSG00000196502.11 ENST00000299192.8 ENST00000395609.5 downstream downstream duplicates(1) ^(AGACGACGCGCCGTGCGCCTGCGCACGGCTTGCCCATGTGTGCTGCAGCCGTCAGCCGGCCCAGCTGAGCAGCAGCAACGGACCTTGTTAACGGCGCGGCAGCCTCCACCGCCTGCTGTTGCCCTCCTCTCTCGGTGGTCTGTCCGCCCAGCGCACGTCACCATGGGCAAGAGCCGGACGAAGCGCTTCAAGCGACCTCAGTTCTCCCCTACGGGCGACTGTCAGGCCGAGGCGGCTGCGGCGGCGAATGGGACCGGAGGCGAGGAGGACGACGGGCCGGCGGCGGAGCTGCTGGAAAAG___CTCCAGCACCCGAGCGCCGAGGTCCGCGAGTGCGCCTGCGCAGGGCTGGCCCGGCTGGTGCAGCAGCGGCCGGCACTCCCGGGCCTGGCGCGACGAGACGCCGTGCGCCGCCTCGGGCCGCTGCTGCTAGACCCCAGCCTGGCCGTCAGGGAGACTGCAGCCGGCGCGCTGAG___AAATCTCAGTGCTTGTGGAGGTTTTGAAGTTTGTGATGACATGGTGACTAAGGATATCATGACCCCTCTGGTTGCGCTGCTAAAAGAG___TGTAGTGCTGGACTGGATTCAAATGAGATGTCTCTGCAGGAGAAAAAAGATCAGAACAGAAATTCTATTGAGAACATAGCCAATGAGACTGTGAACGTGCTGTGGAATATATG___TGAATGCAGTAGTAGAGCAGTGTCTATATTCAACAAAGAAGGGTGTTTGGAGATTGTGTTAAAGTATTTAAGTAGGTTTCCTACCAATGTTGACCTGGCTATTTCAGTAG___CATATTGTTTGCAGACAGTGACTGAGGATAACCCAGAGCTGCTGAAGTCTTTCAGTGCTACAGCATTGAACATGCTGGAATCAGCACTGCTTTCTCCTGTCAGTTCCATGGAATCTCTTCTATTGAAGACATTGGTAGCAG___GCACAATTTGGAATCTAAAGGACATTATTCCATGCAAGAGTCAAGCAGAAATCATAAATGCCTTACTAAAGATCTTATCTGAAGTTTTGGGAATGGATGCTGGTGAAATGGTTATTCAAATGAAAGAGGCTGAAACGCAAAGGTTAAAAACTGCTGCAGAGGCTGAGGAAATATTAGAGAACACTAATGGGGATGATTTGATTGAAGATGATGAAATGGAAGGAATTTCTCATAAAAGAAGAGTCAGAAGGAAAACTTTCGTTTCAGATTTACTTCCG___CCCACTGACAAGGAACTGAGAGAGACTATAGCATTGCTGACAGCCCAACAGACTGCTCTGGAAATTATTGTCAACATGTGCTGCAATGAAG___ATCCCTCTGATGACGAATGGGAAGAGCTTTCTAGCAGTGATGAAAGTGACGCATTTATGGAGAATTCCTTCAGTGAGTGCGGGGGACAGCTGTTTTCTCCCCTCTGCCTCTCCCATGAAGTTCACACGGCTCTCACCAACTACCTCATCCCAAAGAAG___ATTTTTGAGAAAACTGCCTTTCCAAACAGCATTGCAGTTGACCTATGTTCTAGGAACCCTACTTGGAAACCTTTGATTAGAAA___AATGAA)CACTATTCAGTGCAGAGCCCTCTTCTGTCTCCAGAGTCTTGTGTCCCTCCTGGATGTGGAGCACCTGGGAGGAGCCGCAGCCCTTCAGACGCTTGCACAGCATCTGTCACAGCTGCTTTTTTCTCAACCAG|CAAACTCAGTCGTGGCTTTGGAGATCACTTTAAGCTTGTCTCCAGCTGGCACACTAAGGAGG(GTAATGGAGAAGCTCCCCCACCCCCAACCCCACCCCTTCCTTCCGGAAGCAAATCTAAGTCCAGCCCCGGCTCCAGATCCCTCCCACAGTGGACCTAGGAAACCCTCAGCTCAGAGAACAACCCTGCATTCCCCACACAACACCCACAATCAGCCACTGCGGGCGAGGAGGGCACGAGGCCAGGTTCCCAAGAGCTCAG___GAACATGGAGCTGATCCAGGACACCTCCCGCCCGCCACTGGAGTACGTGAAGGGGGTCCCGCTCATCAAGTACTTTGCAGAGGCACTGGGGCCCCTGCAGAGCTTCCAGGCCCGGCCTGATGACCTGCTCATCAGCACCTACCCCAAGTCCG___GCACTACCTGGGTAAGCCAGATTCTGGACATGATCTACCAGGGTGGTGACCTGGAGAAGTGTCACCGAGCTCCCATCTTCATGCGGGTGCCCTTCCTTGAGTTCAAAGCCCCAGGGATTCCCTCAG___GGATGGAGACTCTGAAAGACACACCGGCCCCACGACTCCTGAAGACACACCTGCCCCTGGCTCTGCTCCCCCAGACTCTGTTGGATCAGAAGGTCAAG___GTGGTCTATGTTGCCCGCAACGCAAAGGATGTGGCAGTTTCCTACTACCACTTCTACCACATGGCCAAGGTGCACCCTGAGCCTGGGACCTGGGACAGCTTCCTGGAGAAGTTCATGGTCGGAGAAG___TGTCCTACGGATCCTGGTACCAGCACGTGCAGGAGTGGTGGGAGCTGAGCCGCACCCACCCTGTTCTCTACCTCTTCTATGAAGACATGAAGGAG___AACCCGAAAAGGGAGATTCAAAAGATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCGTGGACTTCGTGGTTCAGCACACGTCGTTCAAGGAGATGAAGAAGAACCCTATGACCAACTACACCACCGTCCCCCAGGAGTTCATGGACCACAGCATCTCCCCCTTCATGAGGAAAG___GCATGGCTGGGGACTGGAAGACCACCTTCACCGTGGCGCAGAATGAGCGCTTCGATGCGGACTATGCGGAGAAGATGGCAGGCTGCAGCCTCAGCTTCCGCTCTGAGCTGTGAGAGGGGCTCCTGGAGTCACTGCAGAGGGAGTGTGCGAATCAAACCTGACCAAGCGGCTCAAGAATAAAATATGAATTGAGGGCCCGGGACGGTAGGTCATGTCTGTAATCCCAGCAATTTGGAGGCTGAGGTGGGAGGATCATTTGAGCCCAGGAGTTCGAGACCAACCTGGGCAACATAGTGAGATTCTGTTAAAAAAATAAAATAAAATAAAACCAATTTTT)$ MGKSRTKRFKRPQFSPTGDCQAEAAAAANGTGGEEDDGPAAELLEKLQHPSAEVRECACAGLARLVQQRPALPGLARRDAVRRLGPLLLDPSLAVRETAAGALRNLSACGGFEVCDDMVTKDIMTPLVALLKECSAGLDSNEMSLQEKKDQNRNSIENIANETVNVLWNICECSSRAVSIFNKEGCLEIVLKYLSRFPTNVDLAISVAYCLQTVTEDNPELLKSFSATALNMLESALLSPVSSMESLLLKTLVAGTIWNLKDIIPCKSQAEIINALLKILSEVLGMDAGEMVIQMKEAETQRLKTAAEAEEILENTNGDDLIEDDEMEGISHKRRVRRKTFVSDLLPPTDKELRETIALLTAQQTALEIIVNMCCNEDPSDDEWEELSSSDESDAFMENSFSECGGQLFSPLCLSHEVHTALTNYLIPKKIFEKTAFPNSIAVDLCSRNPTWKPLIRKMNTIQCRALFCLQSLVSLLDVEHLGGAAALQTLAQHLSQLLFSQP|ansvvaleitlslspagtlrrvmeklphpqphpflpeanlspapapdpshsgprkpsaqrttlhsphnthnqplrarrargqvpkssgtws* 20BR008 ENSG00000104218.14 ENSG00000288602.1 +/+ +/+ chr8:67132080 chr8:66798542 CDS/splice-site CDS/splice-site duplication 3 3 0 51 29 high in-frame . |PX_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000104218.14 ENSG00000288602.1 ENST00000262210.9 ENST00000519289.1 downstream upstream duplicates(1),mismatches(1) ^(GAGGGGCGGAGCCCCGGCCCGGAGGTCTGTCATGCTGTTCCCGCTCCAGGTGGCCGCTGTAACCTCTTCGGTCCGCGACGATCCTCTAGAGCACTGTGTGTCTCCCCGGACGCGAGCCCGCTCCCCTGA___AATCTGCAAAATGGCTGATAATTTGGATGAATTTATTGAAGAGCAAAAAGCCAGATTGGCCGAAGACAAAGCAGAGTTGGAAAGTGATCCACCTTACATGGAAATGAAG___GGAAAGTTGTCAGCGAAGCTTTCTGAAAACAGTAAGATACTGATCTCTATGGCTAAGGAAAACATACCACCAAATAGTCAACAGACCAGGGGTTCCTTAG___GAATTGATTATGGATTAAGTTTACCACTTGGAGAAGACTATGAACGGAAGAAACATAAATTAAAAGAAGAATTGCGGCAAGATTACAGACGTTATCTTACTCAG___GAAAGGTTGAAACTTGAACGTAACAAAGAATACAATCAGTTTCTCAGGGGTAAGGAAGAATCCAGTGAAAAGTTCAGGCAGGTGGAAAAGAGTACTGAG___CCCAAGAGTCAGAGAAATAAAAAACCTATTGGTCAAGTTAAGCCTGATCTAACTTCACAAATACAGACATCTTGTGAAAATTCAGAGGGTCCTAGAAAAGATGTCTTAACTCCTTCAGAGGCATATGAAGAACTTCTGAACCAAAGACGACTAGAGGAGGACAGATACCGACAACTAGATGATGAAATCGAATTAAGGAATAGAAGAATTATTAAAAAAGCAAATGAAGAAGTGGGCATTTCCAACCTAAAACATCAAAGGTTTGCAAGCAAGGCTGGCATTCCAGATAGAAGATTTCACAGATTTAATGAGGATCGTGTTTTTGATAGACGGTATCATAGACCAGACCAAGATCCTGAAGTAAGTGAAGAAATGGATGAGAGGTTTAGATATGAAAGTGATTTTGATAGAAGACTTTCGAGAGTGTATACAAATGACAG___GATGCACAGGAACAAACGAGGGAATATGCCTCCTATGGAACATGATGGGGATGTTATAGAACAGTCAAACATAAGAATTTCATCTGCTGAAAATAAAAG___TGCTCCAGACAATGAAACATCCAAATCTGCTAATCAAGATACCTGTAGTCCTTTTGCAGGGATGCTCTTTG___GAGGTGAAGATCGAGAACTTATTCAGAGAAGGAAAGAGAAATACAGACTAGAACTGTTGGAACAAATGGCTGAGCAACAGAGGAACAAGAGACG___AGAAAAAGATTTAGAACTCAGGGTTGCAGCGTCTGGAGCACAAGACCCTGAGAAATCG___CCTGATAGACTAAAGCAGTTTAGTGTGGCACCAAGACACTTTGAAGAGATGATACCACCTGAAAGACCCAGAATAGCTTTCCAGACACCTCTCCCTCCTTTATCTGCCCCATCTGTCCCACCCATCCCATCAGTTCATCCTGTTCCTTCTCAAAATGAAGATTTGCGCAGTGGACTCAGCAGCGCCCTTGGTGAAATGGTGTCTCCCAG___GATTGCACCTCTGCCTCCACCTCCCCTACTACCACCTTTGGCTACTAACTATCGA)ACTCCTTATGATGATGCATACTATTTTTATGGGTCCAGGAATACTTTCGATCCCAGTCTTGCTTATT___ATGGTTCAGGAATGATGGGCGTACAGCCTGCAGCTTATGTTAGTGCTCCTGTCACCCACCAACTAGCACAACCTGTTGT___GAATACGGTTGGACAGAATGAACTGAAGATTACAAGTGATCAAGTGATAAATTCAGGATTGATTTTTGAAGATAAACCGAAACCTTCCAAACAGTCACTTCAGTCTTACCAAGAGGCTTTGCAGCAGCAG|GTTTATAAAGTTCTGGTTTCAGTGGGAAGAAGTGAATGGTTTGTCTTCAGGAGATATGCAGAGTTTGATAAACTTTATAACACT___TTAAAAAAACAGTTTCCTGCTATGGCCCTGAAGATTCCTGCCAAGAGAATATTTGGTGATAATTTTGATCCAG___ATTTTATTAAACAAAGACGAGCAGGACTAAACGAATTCATTCAGAACCTAGTTAGGTATCCAGAACTTTATAACCA___TCCAGATGTCAGAGCATTCCTTCAAATGGACAGTCC(AAAACACCAGTCAGATCCATCTGAAGATGAGGATGAAAGAAGTTCTCAGAAG___CTACACTCTACCTCACAGAACATCAACCTGGGACCGTCTGGAAATCCTCA___TGCCAAACCAACTGACTTTGATTTCTTAAAAGTTATTGGAAAAGGCAGCTTTGGCAAG___GTTCTTCTTGCAAAACGGAAACTGGATGGAAAATTTTATGCTGTCAAAGTGTTACAGAAAAAAATAGTTCTCAACAGAAAAGAG___CAAAAACATATTATGGCTGAACGTAATGTGCTCTTGAAAAATGTGAAACATCCGTTTTTGGTTGGATTGCATTATTCCTTCCAAACAACTGAAAAGCTTTATTTTGTTCTGGATTTTGTTAATGGAGGGGAG___CTTTTTTTCCACTTACAAAGAGAACGGTCCTTTCCTGAGCACAGAGCTAGGTTTTACGCTGCTGAAATTGCTAGTGCATTGGGTTACTTACATTCCATCAAAATAGTATACAG___AGACTTGAAACCAGAAAATATTCTTTTGGATTCAGTA___GGACATGTTGTCTTAACAGATTTTGGGCTTTGTAAAGAAGGAATTGCTATTTCTGACACCACTACCACATTTTGTGGGACACCAGAG___TATCTTGCACCTGAAGTAATTAGAAAACAGCCCTATGACAATACTGTAGATTGGTGGTGCCTTGGGGCTGTTCTGTATGAAATGCTGTATGGATTG___CCTCCTTTTTATTGCCGAGATGTTGCTGAAATGTATGACAATATCCTTCACAAACCCCTAAGTTTGAGGCCAGGAGTGAGTCTTACAGCCTGGTCCATTCTGGAAGAACTCCTAGAAAAAGACAGGCAAAATCGACTTGGTGCCAAGGAAGACTTT___CTTGAAATTCAGAATCATCCTTTTTTTGAATCACTCAGCTGGGCTGACCTTGTACAAAAGAAGATTCCACCACCATTTAATCCTAATGTG___GCTGGACCAGATGATATCAGAAACTTTGACACAGCATTTACAGAAGAAACAGTTCCATATTCTGTGTGTGTATCTTCTGACTATTCTATAGTGAATGCCAGTGTATTGGAGGCAGATGATGCATTCGTTGGTTTCTCTTATGCACCTCCTTCAGAAGACTTATTTTTGTGAGCAGTTTGCCATTCAGAAACCATTGAGCAAAATAAGTCTATAGATGGGACTGAAACTTCTATTTGTGTGAATATATTCAAATATGTATAACTAGTGCCTCATTTTTATATGTAATGATGAAAACTATGAAAAAATGTATTTTCTTCTATGTGCAAGAAAAATAGGGCATTTCAAAGAGCTGTTTTGATTAAAATTTATATTCTTGTTTAATAAGCTTATTTTTAAACAATTTAAAAGCTATTATTCTTAGCATTAACCTATTTTTAAAGAAACCTTTTTTGCTATTGACTGTTTTTTCCCTCTAAGTTTACACTAACATCTACCCAAGATAGACTGTTTTTTAACAGTCAATTTCAGTTCAGCTAACATATATTAATACCTTTGTAACTCTTTGCTATGGCTTTTGTTATCACACCAAAACTATGCAATTGGTACATGGTTGTTTAAGAAGAAACCGTATTTTTCCATGATAAATCACTGTTTGAAATATTTGGTTCATGGTATGATCGAAATGTAAAAGCATAATTAACACATTGGCTGCTAGTTAACAATTGGAATAACTTTATTCTGCAGATCATTTAAGAAGTAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACATGGACAAACCCCGTCTCTACTAAAAATACAAAATTGGCAGGGTGTGGTGGCACATGCCTATAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCTGCCTGGGCAACAAGAGTGAAACTCCATCTCCAAAAAAAAAAAGAAAAA)$ MLFPLQVAAVTSSVRDDPLEHCVSPRTRARSPEICKMADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGSLGIDYGLSLPLGEDYERKKHKLKEELRQDYRRYLTQERLKLERNKEYNQFLRGKEESSEKFRQVEKSTEPKSQRNKKPIGQVKPDLTSQIQTSCENSEGPRKDVLTPSEAYEELLNQRRLEEDRYRQLDDEIELRNRRIIKKANEEVGISNLKHQRFASKAGIPDRRFHRFNEDRVFDRRYHRPDQDPEVSEEMDERFRYESDFDRRLSRVYTNDRMHRNKRGNMPPMEHDGDVIEQSNIRISSAENKSAPDNETSKSANQDTCSPFAGMLFGGEDRELIQRRKEKYRLELLEQMAEQQRNKRREKDLELRVAASGAQDPEKSPDRLKQFSVAPRHFEEMIPPERPRIAFQTPLPPLSAPSVPPIPSVHPVPSQNEDLRSGLSSALGEMVSPRIAPLPPPPLLPPLATNYRTPYDDAYYFYGSRNTFDPSLAYYGSGMMGVQPAAYVSAPVTHQLAQPVVNTVGQNELKITSDQVINSGLIFEDKPKPSKQSLQSYQEALQQQ|VYKVLVSVGRSEWFVFRRYAEFDKLYNTLKKQFPAMALKIPAKRIFGDNFDPDFIKQRRAGLNEFIQNLVRYPELYNHPDVRAFLQMDSPKHQSDPSEDEDERSSQKLHSTSQNINLGPSGNPHAKPTDFDFLKVIGKGSFGKVLLAKRKLDGKFYAVKVLQKKIVLNRKEQKHIMAERNVLLKNVKHPFLVGLHYSFQTTEKLYFVLDFVNGGELFFHLQRERSFPEHRARFYAAEIASALGYLHSIKIVYRDLKPENILLDSVGHVVLTDFGLCKEGIAISDTTTTFCGTPEYLAPEVIRKQPYDNTVDWWCLGAVLYEMLYGLPPFYCRDVAEMYDNILHKPLSLRPGVSLTAWSILEELLEKDRQNRLGAKEDFLEIQNHPFFESLSWADLVQKKIPPPFNPNVAGPDDIRNFDTAFTEETVPYSVCVSSDYSIVNASVLEADDAFVGFSYAPPSEDLFL* 20BR008 ENSG00000148180.19 ENSG00000046647.13 +/- -/- chr9:121295131 chrX:14026221 intron 5'UTR/splice-site translocation/3'-3' 5 1 0 25 35 high . . . . . ENSG00000148180.19 ENSG00000046647.13 . ENST00000380523.8 upstream downstream duplicates(2) GGAACTGAACAGGGCCTGGAAAAGTTCCGGCAAGCCCTGTGGACAGGTTTGCGAATCTGGACTCAGCTTCTGCAATCCAGACCTCAGTTTCCTCATCTCTAAAAGGGGGAGAATGGTACCTAGAGCATGGAGCAGTGAGGAAGCCCAGGATGTGACGCACAGGAGCTCGCCAAAA|CTCCACCAGCCCATTGGAGAAAAGTTACTGTTCAGTCCCTGAAGGCTTGTGCCATAAAAGAGTGGGAGACATTCCCAGGGAGGTGAGGAATGAAAGATtGAATTAA(AGACCATTAAAGACCAAAGGGCATCTAAATCTGCAGCAACCATCAGCTCTCTTTTCTTTGAGAG___TTTCAGCACCCATTTGGACTTTCACAATCAGAGATGGCAGCGGTAAAG___GCATCAACATCGAAAGCTACCAGGCCTTGGTATTCTCATCCGGTATATGCAAGATACTGGCAACATTATCATCAAGCAATGGCTTGGATGCAAAGCCATCACAATGCCTACAGGAAGGCCGTGGAATCCTGTTTCAATCTTCCATGGTACTTACCTTCTGCGCTTCTTCCCCAAAGCTCTTACGATAATGAGGCTGCGTATCCTCAGTCCTTCTATGACCATCATGTGGCCTGGCAGGACTACCCCTGCAGTTCTTCACATTTCAGAAGATCTGGGCAGCATCCACGTTACAGCAGTAGGATCCAGGCATCCACAAAAGAAGACCAAGCTTTGTCCAAAGAGGAAGAGATGGAGACTGAGTCAGATGCAGAGGTAGAATGTGACCTGAGCAATATGGAAATCACTGAAGAGCTCCGCCAGTACTTTGCAGAGACCGAGAGGCATAGAGAAGAACGAC___GGCGGCAGCAGCAGCTGGATGCAGAGCGCCTGGACAGCTATGTGAACGCTGACCACGACCTGTACTGCAACACCCGCCGGTCGGTAGAAGCCCCAACTGAGAGGCCTGGTGAGCGGCGCCAGGCCGAGATGAAGCGTTTGTACGGGGACAGTGCTGCCAAGATCCAAGCCATGGAGGCCGCGGTGCAGCTGAGCTTTGACAAGCACTGTGACCGAAAGCAGCCCAAGTACTGGCCGGTCATCCCCCTGAAGTTCTGAGCTCAGGGCACAGGGTACCCAGCCTCTCCTTCTTCCTTTTGGGTACACGCTCTTTATCTCTCCTTCTGTACATTTCTTAGGGAAAGGGGACTTTGTACTGGGGTACAGGCATGTTCACCACAGTCCCAGTGGGCCTGTCACGGGGTGGATGTACTATGCCAGCCACTTGGAGGTCTGCAGGACATGTTCTGTTGCCAACATGATAAATTTTCTCCTGACATAAAATAATTTTGCATATACTATACTGGTTTTTTATGTTGTTGGTAACAGTTCAATTCATTAACGTTCTTGCCTAGAGATACTGCCTGGTGTTTTGCTTTTTTATCTTTTCTTGTCTTTAACCTGTCTGAACTACACAAATGCCTTTAAAAAACCAGATATCCTCTCTGACTCTAGCTCCATTAGCCCCCACTAAAAATGAGCCAAGTGTGTAGTGAGACAAATACCACTACCTGTAGTGGAGAGGGATGCATGTTCTATAAAGGGCCAGAGAGTGAATATCTTTGGCACTGCAAGCCACACGGTCAGTGTTGTGACTACTCAACCCTCCCTTTGTAGTGTGAAAGCAGCTGTAGACAGTAAGTAAACAAATGGGTGTGGCTGTGTTCTAATAAAACTTTATTTATAAAAACAG)$ . 20BR008 ENSG00000148120.16 ENSG00000148187.18 +/+ +/+ chr9:94760580 chr9:122313227 CDS/splice-site CDS/splice-site deletion 1 3 0 8 113 high in-frame . . . . ENSG00000148120.16 ENSG00000148187.18 ENST00000297979.9 ENST00000344641.8 downstream upstream duplicates(1) ^(GTCTGCGGAAGTGGTGACCCGTGGGACGCGGCTGAGACAG___GAGACTGAAAGGAACCATAATTTGTGACATCAGTTGTTTTCTTTGATAAGCAGCTATTTATGATTCTGGAAGATTAAGGCAGATAGGAAACCCCATCTGAGATTTTAATAAATCCCTCAAACAATAAACCACATCATGGACATACAGCTGGACCCTGCCAGAGATGACCTGCCTCTCATGGCCAACACCAGCCACATACTTGTGAAGCACTATGTACTGGATTTGGATGTGGATTTTGAAAGTCAAGTCATTGAGGGGACCATAGTGCTTTTCCTCGAGGATGGAAACAGATTCAAGAAACAGAATAGCTCTATTGAGGAAGCCTGCCAATCAGAATCAAACAAAGCCTGCAAATTTGGGATGCCTGAACCCTGCCATATTCCCGTGACAAATGCAAGGACCTTCTCATCTGAAATGGAATATAATGATTTTGCAATCTGTAGTAAAGGTGAAAAAGATACTTCTGATAAAGATGGTAACCATGACAACCAGGAACATGCTTCTGGGATTTCTAGCTCAAAGTACTGCTGTGACACAGGGAATCATGGGAGTGAGGATTTTTTGCTAGTGTTGGACTGCTGTGATTTATCTGTGTTAAAAGTCGAGGAGGTGGATGTTGCTGCTGTGCCAGGTCTGGAAAAATTTACAAGGTCTCCTGAGCTCACGGTTGTTTCTGAGGAGTTCAGGAATCAGATTGTACGTGAACTTGTGACTTTGCCTGCAAATCGTTGGAGGGAGCAGTTAGACTATTACGCTCGCTGCAGCCAGGCTCCTGGCTGTGGGGAACTCCTCTTTGACACTGACA)CTTGGAGCTTGCAGATAAGGAAGACAGGGGCTCAGACAGCTACTGACTTTCCTCATGCTATCAGGATATGGTACAAAACTAAACCTGAAGGGCGATCGGTTACATGGACCTCAGACCAGAGTGGCAG|AGTAACCAGAGAGCACAGAGAAATGCTGGTGAAACTGGCCAAACAGAACACCAACAAGGCCAAAGACTCTTTACGGAAGGTTCGCACCAACTCAATGAACAAGCTGAAGAAATCCAAGGATACAGTCTCAGAGGACACCATTAG(GCTAATAGAGAAACAG___ATCAGCCAAATGGCCGATGACACAGTGGCAGAACTGGACAGGCATCTGGCAGTGAAGACCAAAGAACTCCTTGGATGAAAGTCCACTGGGGCCAGCAATACTCCAGAGCCCAGTTTCTGCTGGATCCCATGGGTGGCACATTGGGACTTCTCTCCCTCCCCCATCTACACAGAAGACTGTCACCATGCTGACAGAAGCCTGTCCTTGTAAGGCCCAGCCTTCCAGGGGAACACTCAGACATGTTCATTCTCTTCCTGCTTCTGCTCTGGGCCGGTGGGTGGCTCTCAGAAAATACTTGCTGCTGGCAAAAGGCCTGTACTCAGGCATTTGCTTTGACTTGATGTTGCCAAGGGACTGAGGCCATTGGCAGGCTTAGTACCACCTGCTCCTCATCTTAGGAGTCTCCTTTTCAAATAATTAGGCTCTGTTCCCATTTTAAAACTCTGATATTGGCCTTCACCTGTGACTGGACACTTTACTAGAGGCCCATTTTCACTAAACAATAAAATCTAAATAAATTGGAAGGAATAACAACCACAAAGGAAAGAATAGAGTTGGTCTGGATTGATGATCACTGAGGATCTGTATGTGAGGCACCCATAACAGTAGTTTTGCCTGTGAGTCGTCTTCACACATGCTGTTTTCTCTGCCTGGCTCTCTCTTCCCCTCCTTACCTGGCCAGTCCTGTTTATCATCAGGCCTTGTCTTGGATATCACGTCCTCTGGGAAGTCTTCTTTTCCCCTCTAACCTAGGACCCTCATTACCGGCTCTCATAGCACAGTCTACTGCTTTGTACGAATTCTAAGTATTCTTGTTGCACTTAATTAGCCTGTATATCCTCAGAACTTTGTGTAATGCCTGGAGCATAGTAGGCAGTCATATGTTGTATCGTGAATAAATTGCACATAGTAGCTACCCAGCAAATGCTGACTTCTTTTCTTTCTAGTCTTAACACTCCCTTTCTATCATTTTCCACTCTTGTACTTGTTCTCAACATTTACTTGGTAGTGACATACCTTTCCTGCAGGGCCTGCCCATTGTTGACAGACAAGTAGTTTATTGTGGCTTATCTTCGGATACTGGGTTATTAGGTTTTTTTCCCTCCAATTATTTTTTATTCATTCATTCATTCCTAATATAGCCATTATGAGTTAGGTATAGTTCTAGGCATTATTTATAATCTTGACAGTAAACTTAAGAGATGTGTATTATCTTCATTTACAAATAGGAAAACTAAGTCTTGACAGTATTAGGTAATTTGCCCAAAGTAACAAAGCAAAGCTGATCAGTGGTAGAAGGTTTTCATGATTCATTGTCAGCGTCATTTACATAGAGGTGAAGTTTCTTGTGCAGGGTTACACACCTAGCAAGTAGCAGAGCTGGCATTCAAATTGAGGCCTGATGTGCTAATGTAAAAGGAAAAAAACAAACTTTTTTTCCTTTTGTACTTTCACACTCAACATGGAACACTTCTGTGACAAGGTGTGTGAGTTTGTTTCCCCCACACACCAAGCAATTCTCCAGCAGACACCAACTGGGTATCCTATAATTCAATTCATTTCTGACATTACCTGGAAATAGTGTCAGATCCCACAGGTTGAGGGCTCCATCTCCCAAGACTGCCAACACTTTTGATGCCAGTCATGAGTCTGGGCCACCCATACTCCTGACTGACCAACTACAAACTAGAGTCCTTGATTTCCTTTGGTTCAGTTAATTTCCTAGGACAGCTCACACAACTCAGGGAAACACGTTCACTGGTTTATTATAAAAGATACAGCTGAACAGCCCAATGAAGGAGGTACACAGGGCAAGGTTGAGGGAGAGGGAGAGGGTGTGGAGCTTCCATGCCTTCTCTGGGCTCACACTCTCTCAGCACCTCACCAATCTGGAAGGAACCACTGTGTCCTGCTGCCTTCATTAGCATTTAGTGAGCACCAATTGTTTGTCAGGTGCTGAACTATGTACTGGCAATACAAAAATGGGAAAGATATGACCCCTGTTTTGGGGGGGTACATAGTGCACTGAACTAAATTGCTGTCTATAATAATCTATTGGGTGGAAAAGTAGGAAGTTCATTCCAGTTCTGCAAGGTGTCTGCTTTCAGAATGGAGCCCACTTTGGTGGTGGCAAGGCCTGGCTGAGTTCTTTCAAAGCAACATCCAACTTCTCTTTGCTCTTTGACTTCCTCCAGATTCTCTCCTGTGCTGGAGGTAATAAGGGTTGCACTTCCCTCTTTACTTACACTGGTGAAACATGCAGTGAGGATTCAAGGTCAAAATTGGGTCAAAGTTAAACTAACACAGTCTCCTGCCCCACTTACCTGTCCTCTAACCCCATCCACCAGCCCTAAGTGGTCATCACATGATCAGAAGTCAGCTGGGGGAAGAGCAGGGATAGATAGAGCAATTAAGGAGCCTCTTTTGGGGTAAGCCACATGACAGGGGCTTTGCAACAGTCTTTCATGAGTGGCCGAAATCCCCCACTCACTGCAAATGTGCTTCTCAAAGATGCAGGATTTTTTAATAAACAGAGGAAATGATAAATTATGTTGTAATTCCACTCCAAAGGCATTTGGTTCTTAACAGCCAAATCCTCTGTAGTCTTTAAATAAACAAAAACTTATTTGGTGAACAGACAGGGAGGAAAATGAAAGATTTTCTGTACTTGGGTTCCACATGTCAACAATTTCTCTCCTGTGTGTATGTTGGCCAAAGCTGTATCATGATAAATGAATAAAGGAAAACCTCGAGCCCAGGGCAGTCAGACAGCTCAGCAAATGGCTTTCAGATGATTACTCAATTTCAGTTGACATTTATCAAAGAGTTTCTCTGTGACTCTGTGTCAGGGCTGTAGTGGTGACAGGGACAAGAATGAGACTACCTGTTTGGATGTGCTGAGAATGAGTAATGCTGGAGCAATTCATTCTCCATCTCTTCTCTCCTACAGCCTCTCTCAAAAAGAAACACTGGGTATGGAAATTCTCACACTTGCCAGAAGAATTAACCACCTCTTCTATTCAGTTTAATGACTTTCAAAGTCCTATGAAATATTCAGGCCAGAGAGAATTTGAGAATTTTTTTCCTGTCTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGAAATTACAAAATAAGTTGGAATGCAGAAAGTTAAAAAAAAAATCTCACCAGGCCCTACTCCTTTAAAATTAGGTATATATCTTTCCAGACCTCCTTTCTCTGTGCATATATGTGTGTGTGTGTGTGTGTGTTCGTTTCATTTTGTTTTGCCTTTGAGACAGTGTCTCACTCTGTCGCCCATCATGCAGTGGCACAATCATAGCTCACTGCAGCCTTGAACTCTTTGGCTCATGCAATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGCTATGCACCACCACACCTGGCTTTTTTTTTTTTGCTTTGTTTCCTAGGCTGGTCTCAAACACCTGGCCTCAAGCGGTCCTTCTGCCTCAGCCTCCCAAAGCGCTGGGATTACAAGTGTGAGCCACTCTGCCTGGCCATATATAATTTTTTTTTTTTTTTTTTTGCAATGGAGTCTTGCTCTGTCGCCCACGCTGGAGTGCATTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCAGTTTTCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTTATTTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTCAGGTGATCCACCTGTCTCAGCCTCCCAAATTGCTGGGATTACAGGCATGAACCACTGCGCCCGGCCATATAATTTTTTAGAAGGAGAGAGGGGAACTATTCATATTCTGATGTTTGCTTTTTTTTCTTACCCTGTAACAATCATGGTCATCTGTCCATGTGTGTACATAATAGATACAATTTATTATTTCATTGTGATACAGTATTCCATAATATGGGTCTACCATAACTTAATTCACTATTAGCCCATGACACTATTTAAAAATTATTTCACATGCATTGGAGAATGTTTAAAGATGATTTTTTTTTTTAAGAAAAAAGAAAGGCCCCTATTCTAAGATTATCTGATAAGGTCTGCTCTTTCTCCTTCAACCTCAGGCTAACATTTATTGAATGCCTACAGTCGGCCAGGTTCCATGCTAGACCCTTTACACGTGTTCCCACATTGAAACTTCTGATGAATCCTTGTTAATGTAGGTGTTATGATTATCTGTGTTTTTCTGTGAAAAAAACAGGTTCAGAAAGGATATTTAACTTGCCCAAGGTCACACAGGTAGTAAGTGCTAGAATGAAATTTCAAACCCACATCTGACCTTGAAGTAGGTCCTTAATCAGTGTGCTTTGGTTCCCAAGTCTTCGCTGAACACTTACTCAAAAGGGACCTCGCGCTGTTCTGGACCTGGACGGTGATGTGAGAGAAGCAGAAGTCTTGCTTTCATAAAACACATAGCAAGCTGTTCCTAATTAATGACTGCAAGTAAAATAGCATAGTACCTGGCACATTGTAAACACCAAAGAAATGGTAGCTCTTATGGAGACAGTAAAGATTACATATTAATCCCCCACCTGTTTGGCCAACTTCTCTAGAATATGTCAGAGAGCAAGCAAAATGTTCACCAAGCAGTGAATAATGATAATAATAACAACAATAACAGTATTGACAGATCAGTAACTAATATTTGCTTGGTGCTTTTTAGTTTTCAAACTGCTTCTACATTCTTTGTTGCATTGAAACCACTCAGTGAAACTTTGCGGTTAGACAAAGAGTGATCATAAAAGCTTGTATCCTCAAAAGCCACTTTGAGGCTTTCTTTTGCCCTAATAGACGGTCATTTTTCATGATGTGCATTTGAAATGATATGTTCCCTATTTTGGGGGTACAAATTTTGATATGTATGCAGGAAATGTAGCTTATAGAGTATGTTGTTTAGGTTTTCCATTATTTTTTGACCCTTTGATGAGTCTTGGACTGAAAGTGGTGTGTTTCAGACCCCTGCTATTAACATTTCTGTTCCTTCTTGCATTTTCTGCTTTATGAAAATGGATTCTGCTTTGTGAAAGTACTGCTGTGTTGTTTTATACATAGCGCTCCAGACGCTTACATCTTCTTTATTTCATTCAGTGCTCTTAGTCTGAATTTTATCTTGTTGTATATCAGGATTACAGCTCTTGCTTGCTTTTTGTTTACATTTGCTTTCCCCATTTCTTGATTTTTAAGCTTTCAGAATCACTATTTTAGGTGTTTCTTTTTTTTTTTGGAATTGGGTTTTGTTCGATGAACCATTCTGAAACTCCTTTTTTCTTATTTTTATTTTTAATTGTAAAATATACATAAAATTTACTCTCTTAACCATGTTTTTTTTTTAGACAGGGTCTTGCTCTGTCACTCAGGCTGGATTTCAGTGGCATGATCTCAGCTCACTGTAGCCTTGACAACCTGGGCTGAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTACAGCCACGTGCACCGCCACACCTGGCTAACTTTTAAAATTATTTGTAGAGACAAGGTCTTGGCTATGTTGCCCAGGCTGATCTCAAACTCCTGAGCTCAGGTGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCTTCTGTGCCCAGCCTTAACCATTTTAAGTGTACAGTTCAGTAGCATTTAGTACATTTACATTGTTGTACAACCATCCTCCAGAACTCTTTACCATGCAGAACTGACGCTCTATACCCATTACACAACCCCAGTTCCCCCTTCTCAGCCCCCAGCAACCACCATTTATGAATTTATAAATTTGATTAGGAACATCATGTTAAGTGGAATCATACAGGATTTGTCTTTTTGTGACTAGTTTATTTCACTGAAGCATGATGTCCTTAAAGTATATCCATATTGTAGCATGTATCAGAATTTCCTTTCTAAGGCTGAGTAATCTGTTGTATATATGAATAAGTATATATAAAGCTCCTTTTAACAGACACTTAAATTCATTTACATTTATTTATAATAGTGATATGTTTAGTAGAACCCATTTACTTTTTCTTTATTTTCAGTATTAACATAAGTGATTTGGTGTTTTAGCCCTAAGCAGATAAAGGATTAGAGATTAGAATGAGGAAGAGGGTTGCTTCACATAGACGAAGTTCAGTTTTTGTGGAATAAACAAATAAGTGATTATCTCTGTCTGCCTCTTTGTCTCTCTCTCTCTCTCTTTTTTTTTTAATAAGAGATGAGGGGTCTCCCTATGTTGCCCAGGCTGGACTTGAACTCCTGGGTTCAAGTGATCCTGGAACTGCAGATATGCACAGCTGTGCCCGAAGATCCCTTTCTCTTACATTCCTTTCTTCTGGTCTGTGTTTCAGTCCATCCTACGCTGTTAAGTTAGAACAACCTGAAACAGCTTTTATCATGTCACTCTTCTCTCAGAAACCTTCATTGGTTCCCTGTTGCCTGCTGAATTATGTAAACTCTTCACCCTGGCATTCAGTAACTTCTGCAATCTGGGCCTGATGTATTCCTTTAATTGTGATGCATCTCTTACAACTACCCTGATACCACCAGTGCTTAAGCGAAACGGAATTATTAGCTTTTCTGAAAGCTAATAATTTTGTGCTGCTTTCTCTCACCTTCAAGCCTTTTCTTAGGCTATTTTCTTTGCCTAGTGTATGCTCCCTTAAACCACTTCCCCACCAGCAGGCAAAACTTACCTAGTCTTATAAGCCCTTCTTGGTCCCATGTTCTTCCTTACACTAACTCATTCATTCATTATCCATCCCGATGCTTCTCCTGATTCATTCATTCATTATCCATACCGATGCCTCTCCTGATCCCTAAACCTGCCTATGCCTATTAAGCGCTTGGATTTGCCTCAAGCATCTGACGTTCAGCTACCCACCTGCGTTTCCTCTCTCAGGAAAAGCCTCACCATCCACCCAGGTGCCAAGCCAGGACACTGGGAGCCACTTTTGCCTCCCTGTCCCTCTCCCCTCATCCAATAAGTCACCAAGTCCTGTCAATTCTCCCTTCAACAGACCTTTCCTTTCCTTCCTGGGCACACCCTTGAGTGGTGCTCACCAGGGAACAGATGTGGCAAATGTTCCAGGCTGGCCTCACCCGGGTCTCTAGACACTTGGCTCAGAGGCAGAACATGGCTAACCCTAGATAAGCCTTGTGTGAATTCCTGGCAAGAAAGTCCCCTGCTGTCTTAGTCTGTGCATTCTCTGACTAGCACAGTATGTGGCGAGAGCAGGTGTTGAGGAAATGTTTGTCTAATTCTAAGGGGCCTGCCAGGCCTTGATACAAATGGCGTCACATTTACATGAATAACCCAGAGTTTCTCTAATTATCCTCACCTGCCTGCCCAGGACCTTCAACCTCATCTGCTAAGTCGGCCTCAGGCGTTTCTAGACATCTTAAGGGACCGCATGGCATCCAAGGCCACTGGCATCTACTGTACTCCCCTCCCACCGGCGCTTCCCTTTGCTAGCATCTGCAGCCACAAGTGACACTTAAGGGAGATTTACCTCCACTACTGGGAGTGTTAGTGTCTGTGACAAAAGTGCTGGTTGCTGGGCTGAGGGGGTCTGAGCATGCTGGGTGGAAGCCCTGAAGAGGAAGGGAGAAGGTCTCTGCCCACATCCCACATTTGCCGTGCATCCCTGAGTTCCAAAGCAGCCTCGCTAGGCTCTAGAGCCCCTAAATCTCCAAAGACAGCAGCTCCTCCGCGAGCTAGCTGCCCCTGACCGAGGCTCACAGCTTGCCTAGGGGAGGGCAGGGCAAAAGTCCCTGCTATTCTCTTCCTTTCCTGGCTCAGGCCTTGATCCAAATAGCTCCCTTCTTCCAAGACACTACTCCCCAGGCCTCCTCTTCCTGATAATAATAGTGGCTAACAAGTTTTACTAGATTTTAGGCAACTCAAGGAGCTAGCTGTTATTTTGTTCATTCTACAAGTGAGGAAGGAAGCACAGACAGTGGTTAAGTTACATGTCCAGAGACACACAGAGGGCCTAGTGCAGTAGCTCATGCCTGGAATCTCAGCACTTTGGGTGGCTGAGGTGGGCGAGTCACTTGAGGTCAGGAGTTCGGGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAAAATAAAAAATTTAGCCAGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAAGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCAGCATGGGCAACAGAGCGAGACTCTGTCTCCACACAGAGGAACACTTGGCATCAGGGAGTCTGTTGTCTGACCCGCAACTAGGCAGCCTCATACATTATTTTCACTAAGAGACCAGTGGGGCTGGAAAGGGACTTGTGAGGTGCTAAGTAGCCAGTGAGAGCTTCTGGGTCCTGTCGCAGTTTTGCCCTTTCTTCCCTCAAAAAAAGGTCTCTCCACTTCTCTGTGGGAAAGGCTTGGGCAAGTTCTCTGGTTTCCAATGAGGCCAGAGAACCTGTGCTGATCCCTAACATCTTCACCCATCGGGGGCAAAATAAGTAAAATAAAAGTAATGTAGCAAATGTTTTTATAAAAGTGTTAATTTAAATTAACGGACTATTACCTATTCTTAGAGCTTTCTCTTTTGTTTTTGGCATTAAAATATCCTTTCTATTATAAAA)$ MDIQLDPARDDLPLMANTSHILVKHYVLDLDVDFESQVIEGTIVLFLEDGNRFKKQNSSIEEACQSESNKACKFGMPEPCHIPVTNARTFSSEMEYNDFAICSKGEKDTSDKDGNHDNQEHASGISSSKYCCDTGNHGSEDFLLVLDCCDLSVLKVEEVDVAAVPGLEKFTRSPELTVVSEEFRNQIVRELVTLPANRWREQLDYYARCSQAPGCGELLFDTDTWSLQIRKTGAQTATDFPHAIRIWYKTKPEGRSVTWTSDQSGr|VTREHREMLVKLAKQNTNKAKDSLRKVRTNSMNKLKKSKDTVSEDTIRLIEKQISQMADDTVAELDRHLAVKTKELLG* 20BR008 ENSG00000137075.18 ENSG00000285634.2 -/- -/- chr9:36390467 chr9:85402687 CDS/splice-site exon/splice-site duplication 1 3 0 43 8 high out-of-frame . . . . ENSG00000137075.18 ENSG00000285634.2 ENST00000259605.11 ENST00000662737.1 upstream downstream . ^(GTCCTTCTGCTTCCGTGGGTTTCTGGATAGGCTGCGTTTTGTTCTCAGGGGATGCAAGTTCTTCCTTTCAGGGTTGAAGCGTGAGAGAGGTTGGTTTTTGAAACGGGAGTGTTTCAGGTTATTGAGGTCCAAAAAGAAATAAAGTTTTTGTTTACGTCTGTATGGCTTGTAAG___ATATCTCCCGGGGCCAATTCAGCATCTCTACCTGGCCATCCTAACAAGGTGATTTGTGAAAGG)GTGAGACTTCAGAGCCTGTTCCCTCTCCTCCCAAGTGATCAGAACACTACCGTTCAAGAGGATGCTCACTTCAAAGCTTTCTTCCAG|AGCTTCAAATGTGAGAACACATTCCAGCTGCAGGATCAGAGGACTTTTCCTACAGCCCATAAaTGCCTGCAGCTCTATCGGATTTGCAAATCTACAAAAGAGAGCACATCCTATTGTTCCCGGTTTTGAGTTTTTTTAATAGTATGTCTTGTAAAATGCTGGTTGCTGGTGGACAGGGGTGTTTTACAGATAGGTGTGACTCAGG(AGGGGAAATGGGTGGGCAGAGACAGCCACAAGGAATTCCACACATGAAGGAAATGCTCCCACTTGTGTTTTCTATTTGTGTTTTAAATTTGGGGAGCGACTCACAGGCACTCAGCAAAAGTAACTAATTATATTAACCTTATCAGTAGTGAGGTTTCCTGGTCTCTCATCAGACACTCAGCTCACTGGCTGGTATTTAATTGGGAGCCTGGTGGCCAGTGAAAACAGTGTGGGATGAGTCACACTTTAACAAGTTTTTATAGTACAGCAACCTTGCTGTATAATAGCCAGACATTATTAAAATTCAGATATGGTACACTGACTTGTTTGTTTTCCTTATTCACATGAAACAGATGCTCAGGACTCATTTTACTTACACACAGTAAATGAGGGTCAGCTGTGTTGAGGGAAGTGAGTACTTTGTTCTGGAAGGATAGATGTTGTAGCAATTGTCTTGCTCTGATTGTATTTGAAAAGAATGAATGTTGTTAGTACAATTTGGTATTCTTCCAATGCCTAGTTGGAGTTCAAGGGATATAAAACTGGGCGCTTGAGGAGTGGGATGGAAAAGGATGGAGAAGGAAGGTCAAATATGGCTTTGAAGGGGATCAGCAGAAGCCAGAGGCCGCAGTGGTGAACACTCCTTGTGAATGGCCCTTTGCACCCACGGCTTGGTGAACCCAGCATGGACCGTGGAGAGAGGACCTGCCTAAAAACCAGAGACGGGGTTTGCCTCTCCGCATCACCACTGGCTTGCTGCATCAAGAATCTGCCTTTCAGCTTCTTCACCTGAAACAAGGTGATTGGGATAGCTGGTTTTATTTATTTATTTTTGAGGCCATTCTAGCACTTTGTAAAGTCCAAGGGGGTGTGGTATTGTAATTCTTGGAATAATACAATGAACATCAGATGCTTTGAAGTTTTCCGTTCGGTGGATTCTGGGATTCTTTTCTGAATGAGTGATTACTAGCCAACAGGAATCTCATGGTTCAACCTCAAACTCAAAAGTTATTTCGGGGATGGAAAATG___AGACAGCTCTTGGCCTGTTACTGGGCTTTGGTGGAAACTGAAAGTTTGACTATGGATCATCAAGTCACCATGCAACCTGAACTGCCTATCATGAACTGGGTGCTTTCTGACCCATCTAGCCATAAAGTGGGTCATGCACAGCAGCATTCCATCATCAAATGGAAGTGGTATATACGTGATTGGGCTTAAGCAGATCCTGAAGGCCAAGTAAGTTACATAAGGAAGTGGCTCAAATGCCCATGATCTCCACTCCTGCCACCCTACCTTCTCTCCTCCAGCCTGCACCAATGGCCTCATAGGGAGTTCCCTATGATCAGTTGACAGAGGAAGAGAAGACTAGGGCCTGGTTCACAGATGGTTCTGCACGATATGCAGGCACCACCTGAAAGTGGACAGCTGTGGCACTACAGTCCCTTTCTAGGATATCCCTGGAGGACAGCGTGAAAGGAAATCTTCCCAGTGGGCAGAACTTCGAGCAGTACACCTTGTTGTGCACTTTGCATGGAAGGAGAAATGGCCAGATGTGCAATTACATACTGACTTATGGGCTGTAGCCAATGGTTTGGCTGGATGGTCAGGGACTTGGAAGTAGCATGATTGGAGAATTGGTGACAAAGAATGTTGGGGAAGAGGTATGTGGATGGACCTCTCTGAGTTGTTAAAAGCTGTGAAGATATTTGTATCCTATGTGAGTGCTCACTGACAGATGACCTCTGCAGAGGAGGATTTCAATAATCAAGTGGATAGGATGACCCATTTTGTGGACACCACTCAGCCTCTTTCCCCAGCTACTCCTGTCATCGCCCACTGGGCCCATGAATAAAGTGGCCATGGTGGCAGGGGTGGAGGTTATGCATGGGCTTAGCAACATGGACTTCCACTCACCAAGGCTGACCTGGCTACGGCCACTGCTGAGTGCCCAATTTGCCAGCAGCAGAGACCAACACTGAGACTTTGATATGGCACCATTCCTCGGGGTCATCAGCCAGCTACCTGGTAGCAGGTTGATTATATTGGACCTCTTCCATCATGGAAAGGGCAGAGGTTTGTCCTCACTGCAATAAACACTTACTCCAGATATGGGTTTGCCTATCCTGCATGCAGTGCTTCTGCCAAGACTACCATCCATGGACTCACAGAACGCCTTATCCACTGTCATGGTATTCCACGCAGCACTGCCTCTGAACAAGAAACTCACTTTACAGCTAAAGAAGTGTGGCAGTGAGTTCATGCTCATGGAAGTCACTTGTCTTACCATGTTCCCCATCATCCTGAAGCAGCTGGATTGATAGAATGGTGGAATGGCCATTTGAAGTTACAATTACGATCAATTACAATGCCAACTAGATGATAATACTTTGCATGGCTGCGGCAAAGTTCTCCCAAAGGTTGTGTATACTCTGAATCAGCGTCCAATATATGGTACTGAATCTGCCATAGGCAGGATTCACAGATCCAGGAATCAAGGGGTGGAAGTGGAAGTGGCACCACTCACCAACACCCCTAGTGATTCGTTAGCAAAATTTTTGCTTCCTGTTCCCTCTACATTACGTTCTGCTGGCCTAAAGGTCTTAGTTCTAGAGGGAGGAATGCTGCCACCAGGAGACATGACAATGCCATTAAACTGGAAGTTAAGATTGCCACCTGGACACTGTGGGCTCCTCCTACATTTAAGTCAACAAGCTAAGAAGGGAGTTACAGCATTGGCTGTGGTGATTGACCTGGACTGTGAAGATGAAATCAGTCTACTATTCCACAATGGAGGGAAGGAAGAGTATGTATGGAATACAGGAGATCCATTACGGTGTCTCTTAGTATTACCATGACCTGTGATTAAGGTTAATGGGAAACTACAACAGCCCAATCTGGTCAGGACTACAAATGACCCAGGCCCTTCAGGAATGAAGGTTTAGTTCACTCCACCAGGAAAAAAGCTATGACCTGCTGAGGTGCTTGCTGACAGCAAAGGGAATACAGAATGAGTAGTAGAAGAAGGTAGTCATTAATACCAGCTATAACCAGGGGACCAGCTGCAGAAATGAGGACTGTAATTGTCATGAGTATTTCCTCCTTCTTTTGTTAAAAACATGTTTGTGCATGTATACACTTGTACTAAGAAAACATCTTCATTTTATTTCCTTTTTCCTTTATCATGTGACATAAGATTTATTGACTTCACATCAGCATTTAAGTACTGTTAACTTTCTGTAATAGTATTTGGGTTGAGGATTGGTGCATTTCCGGTTGTACGAAGGATAGTTGTATTATGTTAGGTGTAATTATGACCTTATTATTGTCTTTATTTGAAGATTATGTGTGATCTCAGGAGACGTGTATGGGTTCAAGTTGACAAGGGGCAGACTTGTGATGGTTAATACTGAGTGGCAACTTGATTGGATTGAGGGATGCAAAGCATTGATCTTGGGTGTGTCTGTGAGGGTGTTGCCAAAGGAGATTAACATTTGAGTCAGTGGGCTGAGGAAGGCAGACCTACCCTTATTCTGGGTGGGCACCATCTAATCAGCTGCTAGCAAATATAAAGCAGGCAGAAAAACGTGAAAAGGCTACACTGGCCTAGCCTCCC)$ MACKISPGANSASLPGHPNKVICERVRLQSLFPLLPSDQNTTVQEDAHFKAFFQ|sfkcentfqlqdqrtfptahkclqlyrickstkestsycsrf* 20BR008 ENSG00000175595.15 ENSG00000102098.19 +/+ -/+ chr16:13944835 chrX:18323398 CDS/splice-site intron translocation/5'-5' 1 2 0 7 4 high out-of-frame . . . . ENSG00000175595.15 ENSG00000102098.19 ENST00000311895.8 . downstream upstream . ^(GGAAGAGCTTCCATGGAGTCAGGGCAGCCGGCTCGACGGATTGCCATGGCGCCGCTGCTGGAGTACGAGCGACAGCTGGTGCTGGAACTGCTCGACACTGACGGGCTAGTAGTGTGCGCCCGCGGGCTCGGCGCGGACCGGCTCCTCTACCACTTTCTCCAGCTGCACTGCCACCCAGCCTGCCTGGTGCTGGTGCTCAACACGCAGCCGGCCGAGGAG___GAGTATTTTATCAATCAGCTGAAGATAGAAGGAGTTGAACACCTCCCTCGCCGTGTAACAAATGAAATCACAAGCAACAGTCGCTATGAAGTTTACACACAAGGTGGTGTTATATTTGCGACAAGTAGGATACTTGTGGTTGACTTCTTGACTGATAGAATACCTTCAGATTTAATTACTG___GCATCTTGGTGTATAGAGCCCACAGAATAATCGAGTCTTGTCAAGAAGCATTCATCTTGCGCCTCTTTCGCCAGAAAAACAAACGTGGTTTTATTAAAGCTTTCACAGACAATGCTGTTGCCTTTGATACTGGTTTTTGTCATGTGGAAAGAGTGATGAGAAATCTTTTTGTGAGGAAACTGTATCTGTGGCCAAG___GTTCCATGTAGCAGTAAACTCATTTTTAGAACAGCACAAACCTGAAGTTGTAGAAATCCATGTTTCTATGACACCTACCATGCTTGCTATACAGACTGCTATACTGGACATTTTAAATGCATGTCTAAAGGAACTAAAATGCCATAACCCATCGCTTGAAGTGGAAGATTTATCTTTAGAAAATGCTATTGGAAAACCTTTTGACAAG___ACAATCCGCCATTATCTGGATCCTTTGTGGCACCAGCTTGGAGCCAAGACTAAATCCTTAGTTCAGGATTTGAAGATATTACGAACTTTGCTGCAGTATCTCTCTCAGTATGATTGTGTCACATTTCTTAATCTTCTGGAATCTCTGAGAGCAACGGAAAAAGCTTTTGGTCAGAATTCAG___GTTGGCTGTTTCTTGACTCCAGCACCTCGATGTTTATAAATGCTCGAGCAAGGGTTTATCATCTTCCAGATGCCAAAATGAGTAAAAAAGAAAAAATATCTGAAAAAATGGAAATTAAAGAAGGGGAAG___AAACAAAAAAGGAACTGGTCCTAGAAAGCAACCCAAAGTGGGAGGCACTGACTGAAGTATTAAAAGAAATTGAGGCAGAAAATAAGGAGAGTGAAGCTCTTGGTGGTCCAG___GTCAAGTACTGATTTGTGCAAGTGATGACCGAACATGTTCCCAGCTGAGAGACTATATCACTCTTGGAGCGGAGGCCTTCTTATTGAGGCTCTACAGGAAAACCTTTGAGAAGGATAGCAAAGCTGAAGAAGTCTGGATGAAATTTAGGAAGGAAGACAGTTCAAAGAGAATTAGGAAATCTCACAAAAGACCTAAAGACCCCCAAAACAAAGAACGGGCTTCTACCAAAGAAAGAACCCTCAAAAAGAAAAAACGGAAGTTGACCTTAACTCAAATGGTAGGAAAACCTGAAGAACTGGAAGAGGAAGGAGATGTCGAGGAAGGATATCGTCGAGAAATAAGCAGTAGCCCAGAAAGCTGCCCGGAAGAAATTAAGCATGAAGAATTTGATGTAAATTTGTCATCGGATGCTGCTTTCGGAATCCTGAAAGAACCCCTCACTATCATCCATCCGCTTCTGGGTTGCAGCGACCCCTATGCTCTGACAAGGGTACTACATGAAGTGGAGCCAAGATACGTGGTTCTTTATGACGCAGAGCTAACCTTTGTTCGGCAGCTTGAAATTTACAGGGCGAGTAGGCCTGGGAAACCTCTGAG___GGTTTACTTTCTTATATACGGAGGTTCAACTGAGGAACAACGCTATCTCACTGCTTTGCGGAAAGAAAAGGAAGCTTTTGAAAAACTCATAAG___GGAAAAAGCAAGCATGGTTGTCCCTGAAGAAA)GAGAAGGCAGAGATGAAACAAACTTAGACCTAGTAAGAGGCACAGCATCTGCAGATGTTTCCACTGACACTCGGAAAGCCG|GTGAAATGAAATTCTTGAGTTTGAAACTGGAACCTGAATGTGGAATCATACCCTTCCCCTAGGCTTATCCCCATACCAAAATTGCTGAATGGCTCAGTGGACAATATTGAGAGAGCATGTGCCTTGTATCAAACGCTACAAAGTTCTTCCCCAGAAGGAGTTCTGAATCTGCATATGTAATCTAGTAGAGCTGGT MESGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEEYFINQLKIEGVEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLTDRIPSDLITGILVYRAHRIIESCQEAFILRLFRQKNKRGFIKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWPRFHVAVNSFLEQHKPEVVEIHVSMTPTMLAIQTAILDILNACLKELKCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRATEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQLRDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERASTKERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESCPEEIKHEEFDVNLSSDAAFGILKEPLTIIHPLLGCSDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIYRASRPGKPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASMVVPEEREGRDETNLDLVRGTASADVSTDTRKA|gemkflslklepecgiipfp* 20BR008 ENSG00000165060.14 ENSG00000287265.1 +/+ -/- chr9:69053260 chr6:288657 CDS/splice-site exon/splice-site translocation 1 2 0 25 7 high out-of-frame . Frataxin-like_domain(100%)| . . ENSG00000165060.14 ENSG00000287265.1 ENST00000396364.7 ENST00000665870.1 downstream downstream duplicates(1) ^(AGTCTCCCTTGGGTCAGGGGTCCTGGTTGCACTCCGTGCTTTGCACAAAGCAGGCTCTCCATTTTTGTTAAATGCACGAATAGTGCTAAGCTGGGAAGTTCTTCCTGAGGTCTAACCTCTAGCTGCTCCCCCACAGAAGAGTGCCTGCGGCCAGTGGCCACCAGGGGTCGCCGCAGCACCCAGCGCTGGAGGGCGGAGCGGGCGGCAGACCCGGAGCAGCATGTGGACTCTCGGGCGCCGCGCAGTAGCCGGCCTCCTGGCGTCACCCAGCCCAGCCCAGGCCCAGACCCTCACCCGGGTCCCGCGGCCGGCAGAGTTGGCCCCACTCTGCGGCCGCCGTGGCCTGCGCACCGACATCGATGCGACCTGCACGCCCCGCCGCGCA___AGTTCGAACCAACGTGGCCTCAACCAGATTTGGAATGTCAAAAAGCAGAGTGTCTATTTGATGAATTTGAGGAA)ATCTGGAACTTTGGGCCACCCAGG___CTCTCTAGATGAGACCACCTATGAAAGACTAGCAGAGGAAACGCTGGACTCTTTAGCAGAGTTTTTTGAAGACCTTGCAGACAAGCCATACACGTTTGAGGACTATGATGTCTCCTTTGGG|CATTGTCCAGAGAGAGGCTGCCCAGTTGAATACCTGAGTTCTCAAGGCCATGCAGAACAGCCTGACCATGAGGATGGGCCCCTGTGGTATACGACCTCAACTCTTCAAAGGTCACAATTTCCAGCCTTCCAAGCAGTCTTCTAATTATGAACGTGGTTTCCTCCTTTCGCTGAAGAGATTTGCGGGGC(TCAGATCTCAGCACGGATATCTGGAGAGTGTGGGGTCAGGGAAGAGCAGCAAGAGGAATGGATATCCAG___ATATAGGGCACACTCAACAGAGAGAGAGAGAAAGAGAGAGGAGAGAGAGAGGAGAGAGAGGAGAGAGTCCTTGCACACAATGCTTCCGTGTATTGCTGTACTCCACCCCTTGGTCTACAGCCATAGCCGTACTTGGCAGAGCACAAGACTCTCTGTGGTTCTGCCTCTTGGCATCATGTTGTTTTTTGATCTTTGGTAAGAAACCATGCCTGACTTATGCATGGCCATCATGGAAGTTGCTTGTGTTCATTTTCCGTGTGTGGAATGGTCTGACTTGGCCCATCTACTTCCCTGTCTCTACAAAGGAAGGTCTACCTGGGACAACAAACTAGGCCCTTAAAACTTTTCATGGTTTAAAAACGAAACAAAACAAAAACAACATTTTATGGTTGATGACTCGAGCCCAAAACAGTTAACAAAATCTGAACCACGAATACCTTTTTAATCTCAGGAGAATAATCATCATTTTCATCAGTGTTTGACAGGACTCCTGTAAGACAAGAGCTTGGGCATTGCTTCCTCAGCCTAACTTGCCTGGGCGGAAGGAGACATGGCCAGAAGGTCTTACCATTTGCCTTGTATGTGGTACTCTTTCTGAGGTCTCCAACTCTCTTAAAATCCTGTTCAAAATGATCATGTGGACTGCAGTCTTGTGGACAGCAGGAAATGGACCCGAAGTGTCCCTGCACAGAGGGTCCTAACCATCTGTGCTTGCTGCACCTGCACCGTCAGCTACCCTCTCTGAGGCACACTTCTCCTTCTTCAAATGCCTGCAGGGACCAGGGGGCAGCCCAGAAGTGAAGACAGAAGGGAGGACAGCAAGGGAAGCCCCAGCTCAAAGAAGTGACTGGGCTAGGGCGGCCCTCCTTAAAGATGCTTCTGCCTGCCTGCCGAGTGTCACTGTTGAGCTCTTCCCTAGTGCAGAGCTTTGCACTGCTTTCATTTGTTTTTGTTATTCACTCTTTCATGCAAAACTGAAATTGAACTGGATCTGAAGACACTGAAAAATGTCTGGGTAGGGGGCTGCAGGGAGCAGGGGTTTTCCTGAGAGAATGGAATGTCCCATGAGAAATTTCACTTACCATGAGAGGGGAAGTCCATTTCGTATGACATGATATAACACTGTCATTATAAACTCTCCGTTGGTTTCACATGTGTTAATATTTATCATTCTTTTGATTAGTTATTCATCAAGAAAACCCTGTGAATTCTGAAAAAATCATCATGTATCAAGGGTTCCTCAGGCTAGATGATGGACCCAGGATCATTTTCTCTATTCTTTGCAACAGAGAGCTTGCTTTTTATTTTTATTTATTTATTTTTTTAACCAAACACCACTTGGTCTGCAGGTGAGGAGCTGTCCTTGCCCACATGAGACAATCTCATCTGAAGCAACAACCTGGTACCAGGATATCATGTTTACTCATGAGAATACCGTCGACCATTGACCTTCAAGTGAAGGTTGATCTGTACTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCCCCAAGGCTGGAATGAAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTGTGCCTCAGTCTCCCCAGTAGCTGGGATTACAAGGGCATGCCAACACTCCCTGCTAATTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCCTGAGCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGTCTGACCTGTGCTTTTCACCTTCTCTGCACACCTGTGTGCCCTTTCTACATGGGGCCTCAACTCCAGACCCCGCAAACAACAACTAACATGAGGACAACTGCTGGGAAGAGGCTGAAGCAATTGCAGCATGATCACACAAGGTTGGGATAGATTTCTTTCTCATCTCTCATACACACCCCTTGCAAAAAAATAGGTGGGCAGAAAAGTCTGGGGCTAAGCTTGCCCTGTTTCATCAATGTACAGTTTGCATTACTGAACAGACTAGAACAATGTGTCAATGTAAAAACATTTATATCTGGCTTAAATGACAACAGTTTATCTGCCCTCCCTCCCCAAAATACAAAGCAGTACCTATCTTACCTCTGATGTAATTAAAGTGTCCATGATGGTAACTTTTCCCAAGCAAAGCCACAGTCTGTCTTAAAGGTGAGATGAGATCTTTATCTCTACAGACAGAAAATGTTGTAACTTTTAAATGGCAGTTCACCTCCTGCTTGTTGAGGTTTACAGGGCAGCTTAACAGGTGGGTAGGTGCAGTGGATGGGCAGAGAGATAACTGATATATAAGACAGAGAGATATGTGGACATATTTTCTTACTGTAGTGCTTTTAA)$ MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQRGLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTFEDYDVSFG|hcpergcpveylssqghaeqpdhedgplwyttstlqrsqfpafqavf* 20BR008 ENSG00000083223.18 ENSG00000261727.2 -/- -/+ chr9:86303086 chr16:32025434 CDS/splice-site intron translocation/5'-5' 0 2 1 128 14 high out-of-frame . . . . ENSG00000083223.18 ENSG00000261727.2 ENST00000375960.6 . upstream upstream . ^(AAGTGGGGCCGAAGGAAAACACGGAGAGGGAGCCCGGCCGGGACAGGAAGAGGCTGGGGACCGCGGCGAAGGTGGTGAGTGCTCTTGGGCGCCTTCTCCCAACGTCCCTGCCAGACTCGCCTCCGGGCTGATTCTCCAGTTGGTTTCCTGGACTCCAGAGTAGCTGTCCGGCCTGGCCCCGGAG___GTGCAAAGTAAGAAAATTGAAGTCAAAGACCATGGGAGATACAGCAAAACCTTATTTCGTGAAGCGCACTAAAGACCGGGGGACTATGGATGATGATGACTTCAGAAGGGGTCACCCCCAACAAGATTATTTAATAATAGATGACCATGCTAAAGGCCATGGCAGTAAAATGGAAAAGGGCCTTCAAAAAAAGAAGATAACACCAGGGAACTATGGGAATACCCCCAGAAAAGGACCATGTGCTGTTTCCAGCAATCCATATGCATTTAAAAACCCAATCTACAGTCAACCCGCTTGGATGAATGACAGCCACAAAGATCAGAGTAAGAGATGGCTGTCTGATGAACATACTGGTAATTCAGACAACTGGAGAGAATTCAAACCTGGACCTAGAATTCCTGTTATAAACCGACAAAGAAAAGACTCCTTTCAAGAAAATGAAGATGGTTATAGGTGGCAAGACACAAGAGGCTGCAGAACTGTAAGACGACTGTTTCATAAAGACCTAACAAGCCTAGAAACCACGTCAGAAATGGAAGCAGGAAGTCCTG___AAAACAAGAAGCAGAGGTCCAGACCTAGGAAGCCACGGAAGACTAGAAATGAGGAAAATGAGCAGGATGGAGACTTGGAAGGCCCTGTGATCGATGAGTCTGTACTTTCAACGAAGGAGCTGCTAGGCTTACAGCAGGCTGAGGAGAGACTGAAGAGAGACTGCATTGACAGGCTAAAAAGG___CGACCACGAAACTACCCTACAGCAAAGTACACCTGCAGACTCTGTGATGTTTTAATTGAATCCATTGCATTTGCCCATAAGCATATCAAGGAAAAGAGGCACAAGAAAAACATTAAG___GAGAAGCAAGAGGAAGAGTTGCTCACTACGTTACCCCCACCAACACCCTCCCAGATAAATGCAGTTGGCATTGCCATTGACAAAGTGGTACAGGAATTTGGCTTACACAATGAGAACTTGGAACAGAGGCTGGAAATTAAACGTATCATGGAAAATGTGTTCCAACACAAGTTACCAG___ATTGTTCCCTAAGATTATATGGGTCATCCTGTAGCAGATTGGGTTTCAAAAATTCGGATGTAAACATTGACATCCAGTTTCCAGCCATT___ATTGAAGGATTCTCATTAAGCAAACTAGGGAATTTCAACCTTCAAGACATTGAAAAAGATGTTGTGATCTGGGAACATACTGACAGTGCTGCAGGGGACACAGGCATAACAAAAGAAGAGGCACCAAGAGAAACGCCGATTAAAAGGGGACAG___GTGTCATTAATATTGGATGTGAAACACCAGCCTTCAGTACCAGTTGGGCAGCTCTGGGTGGAATTGCTGCGGTTCTATGCTTTAGAATTTAATTTGGCTGATTTAGTGATAAGTATTCGTGTCAAAGAATTGGTATCTCGGGAATTGAAGGATTGGCCCAAAAAGCGCATTGCCATTGAAG___ATCCCTACTCTGTTAAAAGAAATGTGGCAAGAACCCTAAATAGTCAACCTGTGTTTGAATATATACTTCATTGTTTAAGGACAACATACAAGTATTTTGCTCTTCCACACAAAATTACAAAATCCAGCCTTCTAAAGCCTCTGAATGCAATTACATGTATTTCAGAACATTCTAAAGAAGTAATAAATCATCATCCAGATGTACAAACAAAAGATGATAAGCTCAAAAACTCAGTTTTGGCCCAAGGTCCTGGTGCTACCAGTTCAGCTGCAAATACCTGTAAGGTACAGCCACTTACTCTTAAAGAGACTGCTGAAAGTTTTGGAAGCCCACCAAAAGAAGAAATGGGAAATGAACACATCAGTGTCCACCCTGAAAACTCAGACTGTATCCAAGCAGATGTTAACTCTGATGATTACAAGGGTGATAAAGTATACCATCCAGAAACAGGAAGGAAAAACGAGAAAGAGAAAGTTGGAAGGAAGGGCAAGCATCTGTTGACTGTTGATCAGAAACGTGGAGAGCATGTTGTCTGTGGCAGCACACGTAATAATGAGTCAGAGAGCACTTTGGATTTAGAAGGCTTCCAAAATCCCACAGCTAAAGAGTGTGAGGGACTTGCCACTTTAGATAACAAGGCTGATCTTGATGGAGAAAGTACAGAAGGTACTGAGGAACTAGAAGACTCTCTAAACCACTTTACCCACTCAGTACAGGGCCAGACATCAGAAATGATTCCCTCTGATGAAGAGGAGGAGGACGACGAAGAAGAGGAGGAGGAAGAAGAACCTAGGCTCACCATTAACCAAAGGGAAGATGAAGATGGCATGGCTAATGAAGATGAGTTAGACAACACCTACACTGGGTCAGGGGATGAGGACGCCCTATCTGAAGAGGATGATGAGTTAGGCGAAGCTGCTAAGTATGAAGACGTGAAAGAATGTGGAAAACATGTAGAAAGAGCTCTCCTAGTGGAACTTAATAAAATAAGTCTCAAGGAAGAAAATGTATGTGAAGAAAAAAATTCACCTGTGGATCAGTCTGATTTTTTTTATGAATTCAGTAAACTTATCTTCACCAAAGGCAAG___GGATTGGACTGTGTCAGAACTATTGAAGAATTAGCAAGAGTCCTCAGAAAACATTCAG___GTCTGAGAAACATCTTACCTATTACAACAGCAAAGGTGCCAATTGTGAAGTTCTTCCATTTGAGAAGTGGTCTGGAAGTAGATATCAGTTTGTATAACACATTG___GCCCTTCATAACACAAGGCTTTTATCTGCTTATTCCGCCATTGATCCCAGAGTGAAGTATTTGTGCTATACCATGAAAGTATTTACAAAG___ATGTGTGATATTGGTGATGCATCTAGAGGCAGCTTATCATCGTATGCATATACTCTTATGGTGCTATATTTTCTCCAGCAGAGGAATCCACCAGTCATTCCTGTCCTTCAAGAG___ATATACAAAGGTGAAAAGAAACCTGAAATATTTGTTGATGGCTGGAATATTTATTTTTTTGATCAAATAGATGAACTG___CCTACCTATTGGTCAGAATGTGGAAAAAATACAGAATCTGTTGGGCAGTTATGGTTGGGCCTTCTTCGTTTCTACACAGAGGAATTTGATTTTAAAGAACATGTTATTAGCATCAGGAGAAAAAGTCTGCTTACAACTTTTAAGAAACAGTGGACCTCAAAATACATTGTTATTGAAG___ATCCCTTTGATTTGAATCATAATCTTGGAGCTGGATTATCAAGGAAAA___TGACAAATTTTATAATGAAGGCTTTTATCAATGGTAGAAGAGTATTT)GGTATTCCTGTCAAGGGATTTCCAAAGGACTACCCCTCAAAAATG___GAATACTTTTTTGATCCAGATGTGTTAACTGAAGGAGAGCTGGCCCCAAATGATAGATGTTGTCGAATTTGTGGAAAAATCGGACACTTCATGAAGGACTGTCCTATGAGGAGAAA|GGTTTTTTTTTTTTCCAGGAGGGA-TTTTTTTTTCCTCTTTTGTTATTTTTCAAAAAGGCTTGCTCGCCTTGGTACAAAAATGATCCAAAGCTAGAAAACAGGGATGAACCAACAAAGTCAAAAACAAAAAAAGAAATGAAGAAACAACCCGTTTCCCC MGDTAKPYFVKRTKDRGTMDDDDFRRGHPQQDYLIIDDHAKGHGSKMEKGLQKKKITPGNYGNTPRKGPCAVSSNPYAFKNPIYSQPAWMNDSHKDQSKRWLSDEHTGNSDNWREFKPGPRIPVINRQRKDSFQENEDGYRWQDTRGCRTVRRLFHKDLTSLETTSEMEAGSPENKKQRSRPRKPRKTRNEENEQDGDLEGPVIDESVLSTKELLGLQQAEERLKRDCIDRLKRRPRNYPTAKYTCRLCDVLIESIAFAHKHIKEKRHKKNIKEKQEEELLTTLPPPTPSQINAVGIAIDKVVQEFGLHNENLEQRLEIKRIMENVFQHKLPDCSLRLYGSSCSRLGFKNSDVNIDIQFPAIIEGFSLSKLGNFNLQDIEKDVVIWEHTDSAAGDTGITKEEAPRETPIKRGQVSLILDVKHQPSVPVGQLWVELLRFYALEFNLADLVISIRVKELVSRELKDWPKKRIAIEDPYSVKRNVARTLNSQPVFEYILHCLRTTYKYFALPHKITKSSLLKPLNAITCISEHSKEVINHHPDVQTKDDKLKNSVLAQGPGATSSAANTCKVQPLTLKETAESFGSPPKEEMGNEHISVHPENSDCIQADVNSDDYKGDKVYHPETGRKNEKEKVGRKGKHLLTVDQKRGEHVVCGSTRNNESESTLDLEGFQNPTAKECEGLATLDNKADLDGESTEGTEELEDSLNHFTHSVQGQTSEMIPSDEEEEDDEEEEEEEEPRLTINQREDEDGMANEDELDNTYTGSGDEDALSEEDDELGEAAKYEDVKECGKHVERALLVELNKISLKEENVCEEKNSPVDQSDFFYEFSKLIFTKGKGLDCVRTIEELARVLRKHSGLRNILPITTAKVPIVKFFHLRSGLEVDISLYNTLALHNTRLLSAYSAIDPRVKYLCYTMKVFTKMCDIGDASRGSLSSYAYTLMVLYFLQQRNPPVIPVLQEIYKGEKKPEIFVDGWNIYFFDQIDELPTYWSECGKNTESVGQLWLGLLRFYTEEFDFKEHVISIRRKSLLTTFKKQWTSKYIVIEDPFDLNHNLGAGLSRKMTNFIMKAFINGRRVFGIPVKGFPKDYPSKMEYFFDPDVLTEGELAPNDRCCRICGKIGHFMKDCPMRRk|vfffsrrdffflfcyfskrlarlgtkmiqs* 20BR008 ENSG00000134996.12 ENSG00000102893.16 +/+ +/+ chr9:75146858 chr16:47661458 3'UTR intron translocation 8 1 0 213 7 medium stop-codon . Ankyrin_repeats_(3_copies)(100%),SH3_domain(100%)|Glycosyl_hydrolases_family_15(100%) . . ENSG00000134996.12 ENSG00000102893.16 ENST00000346234.7 . downstream upstream . ^(ACTCGGCGGAGCCGCTCTGCCTGCGTCCGCTCTTCCCGCAGCCAAGGGTGGGCGCCGGTCCTAGGAGGCGCACGGTTGTAAGCCAGACAAAAAGAACTGGGGTGCCCGGAGTGCCAGGTGGCGGGCAAGCGGTGGGCTTTTCGGCGGGGTCTTTAGGATTTGCAGCTCCAGGAAGCGAGATGTCGAAGCCGCCACCCAAACCAGTCAAACCAG___GGCAAGTTAAAGTCTTCAGAGCCCTGTATACGTTTGAACCCAGAACT___CCAGATGAATTATACTTTGAGGAAGGTGATATTATCTACATTACTGACATG___AGCGATACCAATTGGTGGAAAGGCACCTCCAAAGGCAGGACTGGACTAATTCCAAGCAACTATG___TGGCTGAGCAGGCAGAATCCATTGACAATCCATTGCATGAAGCAGCAAAAAGAG___GCAACTTGAGCTGGTTGAGAGAGTGTTTGGACAACAGAGTGGGTGTTAATGGCTTAGACAAAGCTGGAAGCACTGCCTTATACTGGGCTTGCCACGGGGGCCACAAAG___ATATAGTGGAAATGCTATTTACTCAACCAAATATTGAACTGAACCAGCAG___AACAAGTTGGGAGATACAGCTTTGCATGCTGCTGCCTGGAAGGGTTATGCAGATATCGTCCAGTTGCTTCTGGCAAAAG___GTGCTAGAACAGACTTAAGAAACATTGAGAAGAAGCTGGCCTTCGACATGGCTACCAATGCTGCCTGTGCATCTCTCCTGAAAAAGAAACAGGGAACAG___ATGCAGTT)CGAACATTAAGCAATGCCGAGGACTATCTCGATGATGAAGACTCAGATTAATTCCTTTCTGGAGCTTTGAGATCTAAAACTTCTGTTGCTTTTGCCATTCCAAAACTTTGTCTTTGCCAGAAAAGTGTTGGTAACTATAAAGAAAATTATATATGAACACGGCAGTGT|AAATTTAATTATTAAATTCTACCACCCCAGGAAGCCAGCTTGTCACTTGTCTACCCTCTATCTCTAAGATATCTAAGATAAATATGAATCaTTGTATAATGTCATCTTATGCTTGATATTATATCAATGACATTTTATCTTCCCTCAGTTACATAGTAAAGTGTTTCTTCT . 20BR008 ENSG00000155393.13 ENSG00000285543.1(51216),ENSG00000260756.1(72643) +/+ ./+ chr16:50102276 chr16:10278797 CDS intergenic duplication 3 5 0 89 9 medium out-of-frame . HEAT-like_repeat(100%)| . . ENSG00000155393.13 . ENST00000299192.8 . downstream upstream . ^(AGACGACGCGCCGTGCGCCTGCGCACGGCTTGCCCATGTGTGCTGCAGCCGTCAGCCGGCCCAGCTGAGCAGCAGCAACGGACCTTGTTAACGGCGCGGCAGCCTCCACCGCCTGCTGTTGCCCTCCTCTCTCGGTGGTCTGTCCGCCCAGCGCACGTCACCATGGGCAAGAGCCGGACGAAGCGCTTCAAGCGACCTCAGTTCTCCCCTACGGGCGACTGTCAGGCCGAGGCGGCTGCGGCGGCGAATGGGACCGGAGGCGAGGAGGACGACGGGCCGGCGGCGGAGCTGCTGGAAAAG___CTCCAGCACCCGAGCGCCGAGGTCCGCGAGTGCGCCTGCGCAGGGCTGGCCCGGCTGGTGCAGCAGCGGCCGGCACTCCCGGGCCTGGCGCGACGAGACGCCGTGCGCCGCCTCGGGCCGCTGCTGCTAGACCCCAGCCTGGCCGTCAGGGAGACTGCAGCCGGCGCGCTGAG___AAATCTCAGTGCTTGTGGAGGTTTTGAAGTTTGTGATGACATGGTGACTAAGGATATCATGACCCCTCTGGTTGCGCTGCTAAAAGAG___TGTAGTGCTGGACTGGATTCAAATGAGATGTCTCTGCAGGAGAAAAAAGATCAGAACAGAAATTCTATTGAGAACATAGCCAATGAGACTGTGAACGTGCTGTGGAATATATG___TGAATGCAGTAGTAGAGCAGTGTCTATATTCAACAAAGAAGGGTGTTTGGAGATTGTGTTAAAGTATTTAAGTAGGTTTCCTACCAATGTTGACCTGGCTATTTCAGTAG___CATATTGTTTGCAGACAGTGACTGAGGATAACCCAGAGCTGCTGAAGTCTTTCAGTGCTACAGCATTGAACATGCTGGAATCAGCACTGCTTTCTCCTGTCAGTTCCATGGAATCTCTTCTATTGAAGACATTGGTAGCAG___GCACAATTTGGAATCTAAAGGACATTATTCCATGCAAGAGTCAAGCAGAAATCATAAATGCCTTACTAAAGATCTTATCTGAAGTTTTGGGAATGGATGCTGGTGAAATGGTTATTCAAATGAAAGAGGCTGAAACGCAAAGGTTAAAAACTGCTGCAGAGGCTGAGGAAATATTAGAGAACACTAATGGGGATGATTTGATTGAAGATGATGAAATGGAAGGAATTTCTCATAAAAGAAGAGTCAGAAGGAAAACTTTCGTTTCAGATTTACTTCCG___CCCACTGACAAGGAACTGAGAGAGACTATAGCATTGCTGACAGCCCAACAGACTGCTCTGGAAATTATTGTCAACATGTGCTGCAATGAAG___ATCCCTCTGATGACGAATGGGAAGAGCTTTCTAGCAGTGATGAAAGTGACGCATTTATGGAGAATTCCTTCAGTGAGTGCGGGGGACAGCTGTTTTCTCCCCTCTGCCTCTCCCATGAAGTTCACACGGCTCTCACCAACTACCTCATCCCAAAGAAG___ATTTTTGAGAAAACTGCCTTTCCAAACAGCATTGCAGTTGACCTATGTTCTAGGAACCCTACTTGGAAACCTTTGATTAGAAA___AATGAACACTATTCAGTGCAGAGCCCTCTTCTGTCTCCAGAGTCTTGTGTCCCTCCTGGATGTGGAGCACCTGGGAGGAGCCGCAGCCCTTCAGACGCTTGCACAGCATCTGTCACAGCTGCTTTTTTCTCAACCAG___ATTTTGCTAAACATGTTGACTTTCTAGAAGCCATAAGTAGTGCTTTGAGGGCCCTTTTGCAAACAATGGCCTCCAAGAACATTTCCCAG___TGCATGACTCCTGATCAGCTGATGACATTATGCAAAGCAGGCATTCATAGTAGTAATGTCGGGGTTAGAGTGAATGTCGTTAGCATTTTAGGAATCACTGGCAGCGTCCTTGCCAAAGAAGATGGTACACTTGAAACTCTTAAG___)AACATTGGGTGCTTTCaG|TGCCTGGCCCTGTCTCTGTTTTTCAAAGTTATTCATTACACAAACATCCTTGAAAAGTTCAGAGCTTGGCCAGATGCAGGGACTCATCCCTATAATCCCAGCAATCTGGGAGGCCAAAGTGGGAGAATTACTGAGTCTAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCCCATCTCTACAAAAAATTTATCAGTTACCCAGGTGTGGTGGCACA MGKSRTKRFKRPQFSPTGDCQAEAAAAANGTGGEEDDGPAAELLEKLQHPSAEVRECACAGLARLVQQRPALPGLARRDAVRRLGPLLLDPSLAVRETAAGALRNLSACGGFEVCDDMVTKDIMTPLVALLKECSAGLDSNEMSLQEKKDQNRNSIENIANETVNVLWNICECSSRAVSIFNKEGCLEIVLKYLSRFPTNVDLAISVAYCLQTVTEDNPELLKSFSATALNMLESALLSPVSSMESLLLKTLVAGTIWNLKDIIPCKSQAEIINALLKILSEVLGMDAGEMVIQMKEAETQRLKTAAEAEEILENTNGDDLIEDDEMEGISHKRRVRRKTFVSDLLPPTDKELRETIALLTAQQTALEIIVNMCCNEDPSDDEWEELSSSDESDAFMENSFSECGGQLFSPLCLSHEVHTALTNYLIPKKIFEKTAFPNSIAVDLCSRNPTWKPLIRKMNTIQCRALFCLQSLVSLLDVEHLGGAAALQTLAQHLSQLLFSQPDFAKHVDFLEAISSALRALLQTMASKNISQCMTPDQLMTLCKAGIHSSNVGVRVNVVSILGITGSVLAKEDGTLETLKNIGCFq|clalslffkvihytnilekfrawpdagthpynpsnlggqsgritesrssrpawat* 20BR008 ENSG00000169851.15 ENSG00000249678.1 +/+ -/+ chr4:30724596 chr4:30786727 CDS/splice-site intron deletion/read-through/5'-5' 4 3 1 64 6 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 ENSG00000249678.1 ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTC)CGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|GTGGATACAGTGCAGACCATGAACCCCTCTGGCCACATTGAGGAATCGTGTAAAATGAATGTATGTGCTCGTAAGTGAAATATATGCAGTGTTCCAACTCAATATGTTGGATCCTAATAGACCTGGATTTGTCTTGTGTAAAAAGAAATCGATTCC MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|vdtvqtmnpsghieesckmnvcark* 20BR008 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 1 6 0 64 10 medium out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream . ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTACAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCAC)CAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAGGACCACGCCGGATGGCAGTGTTGGTGAGGCAGAGCATATGGAAAATG___ATTCAAGGCCTCTTCCAGATGTAGCCCTGACTGGGAAGTGCACTCGTGAGTGTGA MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednyerttpdgsvgeaehmendsrplpdvaltgkctrec 20BR008 ENSG00000259972.3 ENSG00000156860.16(1531),ENSG00000252074.1(2959) -/- ./+ chr16:74306834 chr16:30672341 exon intergenic inversion 2 4 1 21 8 medium . . . . . ENSG00000259972.3 . ENST00000662467.1 . upstream upstream duplicates(1) ^(CCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTAATCCACCAGCCTCGACCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACACTCCGCCTACTTCTCCATTGAAGTGCTCTAGTTTTGGTAAAATCTTCTCCTTGACTTCAGGACCCTCTCCACATTTATCCCCAGTCTATAACTCGCATATTTCGTGTTTTCAAACAGAAAACCGTAATTCAGGAGTGAACAGCATCCTCTGTAAGGTGTCACAGGAGCAGCCTGAAATCCATTAGGCAGTCATTCTGAAGCTGTGGTGAAATCGAAGGGAAGCTAATGTTGCAGCTAGGAAGATGAGATCCAGGCTGAGGATCACACTTTTTCCAGAATACTTTTTTAGTGTTTCCAAAGCCAGCAAAAGCCGTTTAGAAGTCTCATCTCCAGAATGCCAGAATACACAAATGTAAGGCTTTATTTTAGGGGTGGGCCCTGGGTTTTGCAGTCAAGTCAGCCGCTATTTGTATGAGCAAGACTTCATCGGTAGCACTACTGGGCTCCCCCTCTTCTACATGATGGCAGCAATTTGGCCTTAGAAAATATGCCTAAGTGACTCCACAGGCTATAAGCTATTTTCTTCATAAGTAGAAATGGAAGATTTCTGTTAGGAAGGTAGAAGTCAGTTTTGTCCGTATGTGGGCCAAACTATTAAAAATAATAAGGCCTGGGGATTCCTATGTTCTTAGATGCTCAATAAACATTTCAGTTCATCAAACTATGACCAACTTACAAGTCTGTGGCATTGTGCTAGTTCACTGGACCCTGGGAAAGTCTTTTAAATCCAAATGATACTTTTTGTTTTTTAAAGAGACAGGATTTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCATGTGATCACAGCTCACTGTAACCTTGAGCTCCTGGGCTCCAGTGTCCTACCTCAGCCTCTTCAGTAGCTAGGACTAAGGCACATCCCACCACACCCAGGCAATTTTAGAATTTTTTGTAGATGGCTCTTACTATGTTGTTCAGGCTGGTCTCTTACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAGTGTTGGGACTACAAGCACCAGCCACTGCCCCCAACCCTGCATTATGTTCTTAAAGGCAGACCTGAATCCTGTGCGGTGTCAATTCAGGTGTGCACTGGCCCCTGAGCCTTACATACAGGACCCGTTCCTTAGGATGACGTTGCGTTCCCTTGCTTAGAGCCTCAGCACCATGGCACCTGGCTCTCCCCCGATGCCTGGGTCTTGCTCTTGCCCATTTCCTAGCCAGGGTTTGTGGTCCAGGCAACCTGTCACATCAGTGTGTTCCAAACATGGCACCCAGATCTCAAAAGCTTCTTCAACGCTCCCATGGTTTGGGATACACCTCAAGTTTTAACTTACGTACTTCAAGTTTCTTTTATTCAATTAGATACAAACCGTCTGACTTTTGGCTTCTGAAACAGGAAAGTCAATTTTGTTGTTTTCACTGTACCATGCTTTTTTATCTCAGAATCTTGATGAACTCTGAAATGACCCCTGATGGGGGCATGCCTCTATTTATGCTGAATAAGAGCCATTTTACATTTTACTACAGGTTGAGTGCCCCTAATCCAAAAATTTGAAATGCTCCAAAATCTGAAACTTTTTGAGCACTTACATGGTATTGAAAGGAAATGCTCATTGGAACATTTCCTATTAGGCATGCTCAGCCGTTAA)GCATAATGCAAATATTAAAAAAAAAAA[a]TTTCCTAAATCTTTTAATACTTaTGGTTCCAAGCATTTCAGATAAGGGATAaTCAAGCTCTACCTATTCCCAAATTCCCACTAACTAGCTCTTTGGCAGGTCTATGGAATAAAAATCGATGCTTCTGATTACTTTAAGGCATTATAACCTCATGAAGTGGTTTCTGAGATGCAACTGA|TTGAACACTTAGAGGCCATTGTAGGGTGTTATTAATTGGCCTAGTTTGAATATTGTCTCTGGGAAGAGGGAGGCCCAAGCACAGAGAGAGAACAGTTAACACACATTTATTGATTGAGTTCGCCCTCTTACATGGGCACTGTTTGTGGCACCCCAAAGCAATTACAATAGTAACATCAAAGATCACAGATCACTATAATAGAT . 20BR008 ENSG00000268364.2 ENSG00000198785.7 -/- -/- chr9:70257915 chr9:101573513 exon/splice-site CDS/splice-site duplication 5 0 0 10 3 medium . . . . . ENSG00000268364.2 ENSG00000198785.7 ENST00000594708.1 ENST00000361820.6 upstream downstream . ^(GTGCGAGGCCCAGACTGAGGGCGAAACAGCAGGCAGGACTGGGTGGAGACGTTCGGGGACGTGGCAACTGGAGTTTCTTCTCCGTATATTTCGGCATTCAGTTCCTTTTTTTTTTTGTTTTAACTCAGGAAAAAATCTCAATTGCGTTTAGTATTTTGAAAGCCACTTTATTGCTTCCCGAGCCTCAGTCATGTGTGGTGGGAGGCTGCTGTGGGTGGCACCTGGGGCGTCCACGGCCGCCAAGGCGGGAGGACGTCAGGCCCTGCTTGCTCCCACCCCTTCCAGGTGAGAGCTCCCGGGCACGCCCGTCGTTGGCTCTTCGTCCTCTTGGTGTTCTTCCCTGTTGCTTCAAATCAGGTTCCTGTCTCAAAAATCCGAAAAAGAAATCCTCCCAAATGACTCTGTGCCCGACGCTCCGTTAAGGCATCGTGCTAGGCGTTCTCAAACTCGTGAAATGACTACACTGCACAGGTTAACCTCATTGCTACTCTTCCCCTTGCCTCCTAATTCTCTGGTTAAACTTCCGCCCCCGAGGTTTCTAGAAATCCCTGAGCTGGAATGCGCTGCCTTCATTAAGAGGGTGTTCTGCTTCCGTCTGCTCACATTCATCTAGTAAGCCCTCTCGTTAAAGAGGAGGCAGCACACCGAGGCCTGTCTAGAACTTCTTTCATTTAACCAACAGTGAATATCTAATCTACAAGAAACTGGAGCCGTGGCAGTTTAGGAGCCTGCCAAGGTTGCATCCCTGGGAGCTTATTTTCTATTGTGGGAGAC)AGGAAAAGAACAAGTGAATCAACTGTGAAATTAAATAATTCAAACTTAAAGCTGTTGGAACTTTAAATTATTCTGAGCCTTGCGAAGAATGTGGCGATGGGGCCTGAGTCCCATGGCATACAGCTGCAATGTCTGCCTTGTTTTTTCCTATAATCAGGAAGACCAAACAGAGACAGAG|GTCTAATGTGGGACCCCGTCAGCTTACCGTATGGAATACTTCCAATCTGAGTCATGACAACCGACGGAAATACATCTTTAG(TGATGAGGAAGGACAAAACCAGCTGGGCATCCGGATCCACCAGGACATCCCCCTCCCTCCAAGGAGAAGAGAGCTCCCTGCCTTGCGGACCACCAATGGGAAAGCAGACTCCCTAAATGTATCTCGGAACTCAGTGATGCAGGAACTCTCAGAGCTCGAGAAGCAGATTCAGGTGATCCGTCAGGAGCTGCAGCTGGCTGTGAGCAGGAAAACGGAGCTGGAGGAGTATCAAAGGACAAGTCGGACTTGTGAGTCCTAGGTGACCACACTGCTTCCCTTTCTCAGTTCCTGACCTTCCTCTGAGCCCTTGAGACACTTTGTAATGCTCTTTTGTAACTATCGACAAAGGTGTGGGGAAGCTGAGGTCTAGGTCTTCTTAAAGGTCAAGTCTGCTCTCCCTCGCCTAAAGTGCAGCAGCAGCTCCTCTCAAGCTCACTCTCTAGGTCTCCAGGGTAGGAGTGTTTTTCTAGCAAGAATCTTAGTCAGGAGTAAGCTCTGTGCGAGAGATCTGTGAATAACCAGATAACCCCAGCTGCCGTTAACCTTTTCACCAGGTGCCACAGTAATATTTCTGGTTTTTAGCCCTTTCTCTGCACTACCAACAAGAGATAAAATTGTTACTCACACTTATGTCTTACTGGGTTGCTGGTTTTCATCGTAACACAGAACGAGGTTATCTAGGGTTGTAGCTTTTGATACAACTCCCCGATCTAGATTTATTCCTACATTCTGAATGGGGAGCAGGTAAGAGCAGAGCACCTCCCACTGGGGGTGGGGTATTTAAAAATTAACTCATTAGTATCATAAACGTCAAGGATTGATTGGACCAGGCAAGAGCCATGTTTTTGAGAAGGTTCTGGATCTCTGACTCCATCCTGACTGTTTAGTAAGAGCATGCTTACACCCTACTGTGAAAAGGGGAGGGGATGTGGTAAGCGGAAACAGAAGACAGGCAGCAGAGGCATTAAAAATGCATACCATGCTTTCAGAACAAAAGCTCTGGGCCAGAAAGGCAATTTGGCTAAAAAATGAATAAGACTACTTCTAATGTAACTAAGCATCTCCACTATGGTGTGTGCCTTTTATAAAGGAAAAGAGAGAAAAAGGCAAAGCAAGGTTGTGGCCTTAGGTTGGACCTGGAATATCCCTTATTGCCTATAATGGAATATGTGACACTGTGGGTGAAATGTTCTACACACCACACACTAGGCCATTTTCAGATCAGCAGTCACCCATCGCTTAGCATAGAAATCCCAAAACCTCCAGCCCGGGAACACTATAAGCTTCGACCATTCAGGAATCTGCCCTGCACTTTGCATATCTGTATAGAAAATCAAGTCAATCCCCCATCCTCACACCCACTCATCTCTGAGGAGCTATGAACTGGTTTTGGTCCCTCTAATGATCCTCCAGCCTCATCTAATGCCCCCCAAAGACTGATACAAGTAACCTCCCCTCTGCTTAGGTGTCACTTTCTCAGCATATCAAGTTTAGGCAGCAAGGGAAAGGAATATGGGTCAGTTCTCAAATGTCAATGTAGATAAGAGTCATCTAGTAGAGAACTCATCAGAGTGCGGATTGCCAAGACCCTTCTCCAGAGATTATGGGGTTGGGGGTGGAGGTCTAGAGGTGAGCTCAGAAACCTACTGTTAACCAACACCCCCAAGTGACTGACACAGGTGGTCTAAAAATTACTTTTCTAGAAACACCATTCTGGAAGTTTGGCTGCCCACAGGCAGGAGGAGAAGCATGAAGAGAAAACCTGTTTGAGAAGTTTTGTTTTGTTTTGTTTTGCTTTTTAATAATTTTAGCACACATCTGCTGACTCTCCTTCAACATCCTCACCCCCACCCCTGGGCACCATTTAGGACAAGACTTCCTTATTTATCAATTACTTGATTTATCTTCTCAGGACTCATTGTTCCACCCCCAACCAATTTGAATGCCTACAATAAGTTCAGGAGCTGTGCCAAGCACTTTCCTCTTTTACAGCTGGAGATCACTGGAAAGGTGTCTCAGTCACAAAACTTCTCCCTCTACTACTGGATGAAATGTCTGCATTTCCACCAAAATCTACCCAGTCACCCAGGGAATAACAACTTAAGCTGTAGTTAGATAACACCTAGTGATTAATTGGCTGAGAAAACCCTGGAGTGGAGGGAGGCTCAGAGATACTGATATGGATGTGGGAGGGCTCTAAAGTTAGAGGTCACCAACTCCACAGATGAAACAGTTCAATAATGAGGAAACAGGTGAGCCCTGAAAACACAAAAGGACAGTTCTGTGTTGAAACACCCCATCCCCTCACGTTCTCACCCCAGGCCCAGAAGTAGGTTGCAACTGCCTTTGGAAGATTTTGCCCCTTAGCCATCCCCACCCACTTGTACCAGCTAAGAATGCTGGAGACTCTGCCACCATGCTCTGCGTGCCCCTGAACCTCTGTGCAGCCCGGAAGGCTGATGTACAGGTGTACCTCAATCCACATTACAGCCATGCTCCTAATGTACATGGACATTTTTGTAACTCAGCTCATATTCTGACTGTATTTGAGAAGCTGGCTGTTTAAGGGAACCCAGAAGTGAATTCTTTTGTAAAGTAAAGCACCCTTTTGTAATGCAATTAATTATCCCTTAATGTATCTGTTTTGTAAGTCTGCATTTTTGTATATCGGATTTACCTTAAGCTTCTCTAGTGAGGCATTCTGAGCAGTGGTGATCACATGCCAGATCGCCCTGCCTATCCACAAAGTAGATGACCAATGCACGCTCCTCAAACATCTTTGGAGGAACTACCTGGCCAAAACACTGGCCAGGATGCAGCAAGCAGCAGCAGGGGCTGACAGCAGGCTTACTGCCATCAACATTGCTTGAAATGCCTCTATGTTCTGAATAAAGAAAAACCATAATTGCTTGTGGTGAAACGAAGCAGTCTTCATGTTAAGTAGCAATGGTTATTTTTATTGGTAGTAACTGAACAGTGTTTTGCAATTTGTGAAACAGTGTATTGTGTTTTGTAAAATGATGTCATGAAATGGTGGGTCCTTGGAAACCTCCTTTCCGTTCAGCTCTGCCTCTGTTCTTTCAACTCCTTTGAGGCTCAAAAAAAACACAAAGATCAGAAGCCTTCAGATAGAGGGTGGTATTCTGGTAAAGAAGAAAGAGATAAGGGACGCTACCTTGCTTTTCTGGCACAGGAAGCACATGATAAAGCATGCTCAGATGAGCTGGAACAGATATAGCTACCTGGTTCGTGTAAATAAGAATAATCAAGGCCCCAGAGTGTGTATGCTTCCAGGTGGAGGAGAAAGGGGAATCTCCCAAAATTTAAAAACAAATTGGAAGAATAACCAGGACAGCCAAGTGAAGCAGCCACAGGGACCCAAGCAGTCGAGGTCTTTAATGTGCCTGGAGATGACTCTCTGCTATTCATGAATCTTGCTATTGCACAAACCCTATCAAGAGCTGCTGCTTCCCTTCCAGCCAGAAAAGTGGTAAGCGGAGCAAGTGCCAAGCAGAACAGACCTTATCATCTGGGTAACAGACTTCTCAGTGTTGGTGCTGTGTCTGTTAGAGCCTTAGAGCAAGTTAAGCACTTCCTTGGTGTGGGTAAAGAATAAAGGGGAAAGAAACTACTTTAGAGCCTCTTTTTCTCCCAACTCATATTTTTGATAGGAAAAACAGAAAACCCATCCAGTTCTTCAGAAATTGCTTTCTAGGCATTAATACTACTTTACTATCTATACTGTTTAGTTATTCCTTTCTTTACCCACCTAAACTATCCATCTAATCCAGGATTCCCTCACTCTTTTTTTTTAGTTACTAATCATTTTATGAAAATAATGTATTTATAAGTATTTTCTTAAGGTTTGTGAAGAGTATTTGCATTGTGTCTTCATTTTAATGTGTTTGCAATCGCTCCGCTCCAGGAAGAACGGAAATGCTGTCTTGTGAGCATGAAGTGAACGGGCTGTTTTGCTCCAGCCACTTTTCTTGTACAACCACATGGATGGATTAGATGTCCTCAGGTCTTTTCCATCTTCAGTTTCTATGACTGTGGAATAAATGTTCAGATAGAAACTTCA)$ . 20BR008 ENSG00000069329.18 ENSG00000136848.17 -/- +/+ chr16:46674314 chr9:121766494 CDS/splice-site CDS/splice-site translocation 5 0 0 367 2 medium in-frame . Vacuolar_protein_sorting-associated_protein_35_(100%)|Domain_of_unknown_function_(DUF3498)(100%),GTPase-activator_protein_for_Ras-like_GTPase(100%) . . ENSG00000069329.18 ENSG00000136848.17 ENST00000299138.12 ENST00000259371.6 upstream upstream . ^(ACGCGCGGGGCGGGTGCTGCTTGCTGCAGGCTCTGGGGAGTCGCCATG___CCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTG___GACAAAAACAAGCTTATGGATGCTCTAAAACATGCTTCTAATATGCTTGGTGAACTCCGGACTTCTATGTTATCACCAAAGAGTTACTATGAACTTT___ATATGGCCATTTCTGATGAACTGCACTACTTGGAGGTCTACCTGACAGATGAGTTTGCTAAAGGAAGGAAAGTGGCAGATCTCTACGAACTTGTACAGTATGCTGGAAACATTATCCCAAGGCT___TTACCTTTTGATCACAGTTGGAGTTGTATATGTCAAGTCATTTCCTCAGTCCAGGAAGGATATTTTGAAAGATTTGGTAGAAATGTGCCGTGGTGTGCAACATCCCTTGAGGGGTCTGTTTCTTCGAAATTACCTTCTTCAGTGTACCAGAAATATCTTACCTGATGAAGGAGAGCCAACAGA___TGAAGAAACAACTGGTGACATCAGTGATTCCATGGATTTTGTACTGCTCAACTTTGCAGAAATGAACAAGCTCTGGGTGCGAATGCAGCATCAGGGACATAGCCGAGATAGAGAAAAAAGAGAACGAGAAAGACAAGAACTGAGAATTTTAGTGGGAACAAATTTGGTGCGCCTCAGTCAGTTGGAAGGTGTAAATGTGGAACGTTACAAACAG___ATTGTTTTGACTGGCATATTGGAGCAAGTTGTAAACTGTAGGGATGCTTTGGCTCAAGAATATCTCATGGAGTGTATTATTCAG___GTTTTCCCTGATGAATTTCACCTCCAGACTTTGAATCCTTTTCTTCGGGCCTGTGCTGAGTTACACCAGAATGTAAATGTGAAGAACATAATCATTGCTTTAATTGATAG___ATTA)GCTTTATTTGCTCACCGTGAAGATGGACCTGGAATCCCAGCGGATATTAAACTTTTTGATATATTTTCACAGCAGGTGGCTACAGTGATACAG___TCTAGACAAGACATGCCTTCAGAGGATGTTGTATCTTTACAAGTCTCTCTGATTAATCTTGCCATGAAATGTTACCCTGATCGTGTGGACTATGTTGATAAAGTTCTAGAAACAACAGTGGAGATATTCAATAAGCTCAACCTTGAACA|TGTCTTCCCACGGGAGTTGAAAGAGGTGTTTGCCTCGTGGAGGCAGGAGTGCAGCAGTCGCGGCCGCCCGG(ACATCAGTGAGCGGCTCATCAGCGCCTCCCTCTTCCTGCGCTTCCTCTGCCCAGCCATCATGTCGCCCTCACTCTTCAACCTGCTGCAGGAGTACCCTGATGACCGCACTGCCCGCACCCTCACCCTCATCGCCAAGGTCACCCAGAACCTGGCCAACTTTGCCAA___ATTTGGCAGCAAGGAGGAATACATGTCCTTCATGAACCAGTTCCTAGAGCATGAGTGGACCAACATGCAGCGCTTCCTGCTGGAGATCTCCAACCCCGAGACCCTCTCCAATACAGCCGGCTTCGAGGGCTACATCGACCTGGGCCGCGAGCTCTCCAGCCTGCACTCACTGCTCTGGGAGGCCGTCAGCCAGCTGGAGCAG___AGCATAGTATCCAAACTGGGACCCCTGCCTCGGATCCTGAGGGACGTCCACACAGCACTGAGCACCCCAGGTAGCGGGCAGCTCCCAGGGACCAATGACCTGGCCTCCACACCGGGCTCTGGCAGCAGCAGCATCTCAGCTGGGCTGCAGAAGATGGTGATTGAGAACGATCTTTCCGG___TCTGATAGATTTCACCCGGTTACCGTCTCCAACCCCCGAAAACAAGGACTTGTTTTTTGTCACAAGGTCCTCCGGGGTCCAGCCCTCACCTGCCCGCAGCTCGAGTTACTCGGAAGCCAACGAGCCTGATCTTCAGATGGCCAACGGTGGCAAGAGCCTCTCCATGGTGGACCTCCAGGACGCCCGCACGCTGGATGGGGAGGCAGGCTCCCCGGCGGGCCCCGACGTCCTCCCCACAGATGGGCAGGCCGCTGCAGCTCAGCTGGTGGCCGGGTGGCCGGCCCGGGCAACCCCAGTGAACCTGGCAGGGCTGGCCACGGTGCGGCGGGCAGGCCAGACACCAACCACACCAGGCACCTCCGAGGGCGCGCCAGGCCGGCCCCAGCTGTTGGCACCGCTCTCCTTCCAGAACCCTGTGTACCAGATGGCGGCTGGCCTGCCGCTGTCACCCCGTGGCCTTGGCGACTCAGGCTCTGAGGGCCACAGCTCCCTGAGCTCACACAGCAACAGCGAGGAGTTGGCGGCTGCTGCCAAGCTGGGAAGTTTCAGCACTGCCGCGGAGGAGCTGGCTCGGCGGCCCGGTGAGCTGGCACGGCGACAGATGTCACTGACTGAAAAAGGCGGGCAGCCCACGGTGCCACGGCAGAACAGTGCTGGCCCCCAGAGGAGGATCGACCAGCCTCCGCCCCCACCCCCGCCGCCACCTCCTGCCCCCCGCGGCCGGACGCCCCCCAACCTGCTGAGCACCCTGCAGTACCCAAGACCCTCAAGCGGAACCCTGGCGTCGGCCTCACCTGATTGGGTGGGCCCCAGTACCCGCCTGAGGCAGCAGTCCTCTTCCTCCAAGGGGGACAGCCCAGAACTGAAGCCACGGGCAGTGCACAAGCAG___GGCCCTTCACCTGTGAGCCCCAATGCCCTGGACCGCACAGCCGCTTGGCTCTTGACCATGAACGCGCAGTTGTTAGAAGACGAGGGCCTGGGCCCAGACCCCCCCCACAGGGATAGGCTAAGGAGTAAGGACGAGCTCAGCCAAGCAGAAAAG___GACCTGGCGGTGCTGCAGGACAAGCTGCGAATCTCCACCAAGAAGCTGGAGGAGTATGAGACCCTGTTCAAGTGCCAGGAGGAGACGACGCAGAAGCTGGTGCTGGAGTACCAGGCACGGCTGGAGGAGGGCGAGGAGCGGCTGCGGCGGCAGCAGGAGGACAAGGACATCCAGATGAAGGGCATCATCAGCAG___GTTGATGTCCGTGGAGGAAGAACTGAAGAAGGACCACGCAGAGATGCAAGCGGCTGTGGACTCCAAACAGAAGATCATTGATGCCCAG___GAGAAGCGCATTGCCTCGTTGGATGCCGCCAATGCCCGCCTCATGAGTGCCCTGACCCAGCTGAAAGAGAG___TATGCATTAGAAACAAAAGCCCGCTTGCTCGCTTGCTGGAACACAGGGGCCTTTTAAGTTGAGCGTGCGCACTGCATGGGAAATAGCGGCCCTGGAGGATGTTAGACTTGCTCCCTCTCCAAGACAGCAGCAGCCTGCACCTGCCCCGTGTGTGTGGCCGGCCTCCTCCTCACCCTTCCCGGCCCCCGGCCAAGGACCCAGGCGCTGCATACAGGGGAGGGGCGCACCCCACAGCTGGGGCCGGTTTTCCTCAGCTCTAGGCTGTTCTGTAGCTTATCTGCCCCTCCCCCACTTTCAAGACAGATGAGCAGGAGCTTGGGTCTCTCTCGGCCCCTGTCTGTTCCCAGCCCCTGCAGATTCTGAGCAAAGGCCCTGGGTAAGAAGGGTGGGAGTGGGGCCTTTGCCAGCAGAGCCAGGGCAGGGCGAGCTGCAGGAATCACCCCTCTGCCCCTGCAGCTGGAATGTGCCACAGAGGCCCCACCTGAAGGGTGGATGTGCTGGAGGGGTGGCCCAGAGCCATACTGCGTCCACCCTGAGCTCGGGGACAGGTGACAGTGGCTGCTCTGGGAAGGGGCTTTTAGATGTAACCTACAATTCAGTTAGGCTAGAGACAGATGCTGGTGGAGGAAGGGCTGGGCCACCAGGGATCACAGACCACAGGAAGATGGGAGGTGGAAGCAGAGGCCCTGCCCCCACCCCTTCCTGTCTCACTCTTCTGTCTTGTCCCCACCCATGCGCCTTCGTGCCTGAGACCAGGGTGGCCACACAGGCAGGGCCTGGCTCCAGTCTCATCCTCCCATTGCCCAGTGAGCCCTGCTCTTCTCTCCCCAGCCCCCTCCCACCGCTGCCTCGTAGAGTGACCTCGGACAGAGCCCCCCTAGCAATACAGGGAGGCTCCCGGGGCCTGGACAGGCGGGCTCGGAGGCTACCCGCTGTGGCCGGTGCCAGCTGCCCTTGCAGGGTGGGTGAGCTCTCAGGCCGAGAGCCTTATTTACCTAGTGCAAAAACTGTAAAAGTGTACAGACTCTTCACAGATTTTTATCTTAATTGCAAGTCTGCCGATTTTGTAAATGTTCTTGGTGTTTGACTGTAATGTAACTATCTCACCTAATGGTTGTACATATCCTTTGGTCCTGGTGCTGCCGAGGGCTGGCCGGGACTGCTGCTCTCCCAAGGGTTTTATTTTATTTCTGAATCTAGAGAACAGTATTGGGCAGGAGGAAAAGGCTTGGTGTCTGCGGGGGGTGTCTTCCCTGCCTGTGGCATTTGTGTGTTGGCTTTGCAGCTGCTGTCTGAGTAGTGGCCACTGGGGTGCCTTCACTGGGCCAGTCAACGGGGGGCTCCTGCCCAGGCCACAGAGAACCTGAGTTCCCGGGAGCTGGGCCCTGCCTGCAGCCAGGGCTGGGGTTGCCAGAGGCCCTGGAGGGAAGGACAGTCCCTGCTGGGGAAGAACAGCCCCGGGGCCCCCTGGTCACCGAGACTCAGCCTCTGCTGGAGAAAGCCACGCCCTCCCTGCTAGCACAGAGGCCTGACTGACTTTTTTGCTTAACTTCCATGTTCTGGGTGATGGAAACTGCCAAACCTCCTGTCAGTGAGGACTCTTTCCGACTGCCCAGAAAGTGGGGGTGGAGGACCGAGGCTACAGCTCCACACGCCCCGGTCCCCCAGAGCATCTGCCCCAGGTACACCTCCCCCTGCGCCCCGCACGACTGCGGGAGCCAGACTGTCCAGGGAAACAGCCTCTCTCTTTTCTACACACTCAGCCACAAAGCCCCCCAGCTCCCACACCGCGTCCCAGCTCCCCTCTTTTGTAAGTATGTGAAAAGGAAAAAATGCAAACGTTGGAGTTTGGGCTGGAGCTCCTCCCTCCAGCTGCGACTTTTAACTATGTAATAATGTACAGAGGAAGCTGTTGGTGTTCTAAGACTCTGTGTGGCTGTGCAATTTCTGTACATTTGCAATTAGAAATATTAAAGATTTATTTAGCTATTTT)$ MPTTQQSPQDEQEKLLDEAIQAVKVQSFQMKRCLDKNKLMDALKHASNMLGELRTSMLSPKSYYELYMAISDELHYLEVYLTDEFAKGRKVADLYELVQYAGNIIPRLYLLITVGVVYVKSFPQSRKDILKDLVEMCRGVQHPLRGLFLRNYLLQCTRNILPDEGEPTDEETTGDISDSMDFVLLNFAEMNKLWVRMQHQGHSRDREKRERERQELRILVGTNLVRLSQLEGVNVERYKQIVLTGILEQVVNCRDALAQEYLMECIIQVFPDEFHLQTLNPFLRACAELHQNVNVKNIIIALIDRLALFAHREDGPGIPADIKLFDIFSQQVATVIQSRQDMPSEDVVSLQVSLINLAMKCYPDRVDYVDKVLETTVEIFNKLNLEh|VFPRELKEVFASWRQECSSRGRPDISERLISASLFLRFLCPAIMSPSLFNLLQEYPDDRTARTLTLIAKVTQNLANFAKFGSKEEYMSFMNQFLEHEWTNMQRFLLEISNPETLSNTAGFEGYIDLGRELSSLHSLLWEAVSQLEQSIVSKLGPLPRILRDVHTALSTPGSGQLPGTNDLASTPGSGSSSISAGLQKMVIENDLSGLIDFTRLPSPTPENKDLFFVTRSSGVQPSPARSSSYSEANEPDLQMANGGKSLSMVDLQDARTLDGEAGSPAGPDVLPTDGQAAAAQLVAGWPARATPVNLAGLATVRRAGQTPTTPGTSEGAPGRPQLLAPLSFQNPVYQMAAGLPLSPRGLGDSGSEGHSSLSSHSNSEELAAAAKLGSFSTAAEELARRPGELARRQMSLTEKGGQPTVPRQNSAGPQRRIDQPPPPPPPPPPAPRGRTPPNLLSTLQYPRPSSGTLASASPDWVGPSTRLRQQSSSSKGDSPELKPRAVHKQGPSPVSPNALDRTAAWLLTMNAQLLEDEGLGPDPPHRDRLRSKDELSQAEKDLAVLQDKLRISTKKLEEYETLFKCQEETTQKLVLEYQARLEEGEERLRRQQEDKDIQMKGIISRLMSVEEELKKDHAEMQAAVDSKQKIIDAQEKRIASLDAANARLMSALTQLKESMH* 20BR008 ENSG00000168411.14 ENSG00000101871.15 -/- -/- chr16:74644722 chrX:10773897 CDS intron translocation 1 3 0 2 7 medium out-of-frame . |B-box_zinc_finger(100%),Fibronectin_type_III_domain(100%),RING-type_zinc-finger(100%),SPRY-associated_domain(100%),SPRY_domain(100%) . . ENSG00000168411.14 ENSG00000101871.15 ENST00000361070.9 . upstream downstream . ^(GGCAGTTGGCGTAGGTGCATTCGGAGTGCGGCCGAGGTAACTACCGAGTCTTCGGCGGGCTCGCGAGCCCGGCCGCGGCCTGCTGGTTTCAG___TGATGGCTCATGAAGCAATGGAATATGATGTTCAGGTGCAGTTAAATCATGCCGAACAACAGCCAGCTCCTGCTGGCATGGCCAGCAGCCAAGGGGGACCAGCCCTCCTCCAGCCTGTTCCTGCTGATGTGGTCAGCAGCCAGGGGGTACCATCCATCCTCCAGCCAGCTCCTGCTGAGGTGATCAGCAGCCAAGCGACACCACCCCTGCTCCAGCCTGCTCCGCAACTGTCTGTTGACCTGACAGAAGTGGAGGTCTTGGGAGAAGACACTGTGGAGAACATCAATCCAAGAACTTCAGAACAACATAGGCAGGGATCTGATGGTAATCACACCATCCCAGCATCTTCGTTGCATTCAATGACCAACTTCATCAGCGGACTGCAGAGACTTCATGGCATGCTGGAATTCCTGAGACCTTCATCTTCAAACCACAGTGTAGGGCCAATGAGAACAAGAAGGAGGGTATCTGCTTCACGGAGGGCAAGAGCCGGAGGGTCTCAGAGGACAGACAGTGCCAG___GTTGAGAGCACCATTGGATGCTTACTTTCAGGTGAGCAGGACCCAGCCTGACTTGCCAGCTACCACTTATGATTCAGAGACTAGGAATCCTGTATCTGAAGAGTTGCAGGTGTCTAGTAGTTCTGATTCTGACAGTGACAGCTCTGCAGAGTATGGAGGGGTTGTTGACCAGGCAGAGGAATCTGGAGCTGTCATTTTAGAAG___AGCAACTAGCAGGTGTCTCAGCAGAGCAAGAAGTTACATGTATCGATGGAGGCAAGACCCTCCCCAAACAG___)CCATCTCCCCAGAA|TTCTGTATCTTCTTTATTATTTGCATTTCATGCAACATGTGTTCCCTGTTCCGACCAACAAACTTAAACCTCTACTCTTGGCCTGTATGTGAGCTGGACCTGCTTATGGCCTATATCAACTTGACTCTTCTTTTTTACTTATTTTTGCAGTGGACTAAGGTAGAAGCCGCATCCTTGATTTGACAAGAGGTTTCCAGTAAAGCAGAGCAGACTTAACTAATACATAACAAACAATACAACATAATTTACAAAACAAGATAAAATGTAAC MAHEAMEYDVQVQLNHAEQQPAPAGMASSQGGPALLQPVPADVVSSQGVPSILQPAPAEVISSQATPPLLQPAPQLSVDLTEVEVLGEDTVENINPRTSEQHRQGSDGNHTIPASSLHSMTNFISGLQRLHGMLEFLRPSSSNHSVGPMRTRRRVSASRRARAGGSQRTDSARLRAPLDAYFQVSRTQPDLPATTYDSETRNPVSEELQVSSSSDSDSDSSAEYGGVVDQAEESGAVILEEQLAGVSAEQEVTCIDGGKTLPKQPSPQn|svssllfafhatcvpcsdqqt* 20BR008 ENSG00000155719.18(10319),ENSG00000260306.1(23047) ENSG00000005844.18 ./+ +/+ chr16:21771048 chr16:30489082 intergenic CDS/splice-site deletion 3 0 0 6 2 medium . . |FG-GAP_repeat(100%),Integrin_alpha(100%),Integrin_alpha_cytoplasmic_region(100%) . . . ENSG00000005844.18 . ENST00000356798.11 downstream upstream duplicates(2) AGGAGCTGAGACAGACAGCTGCCTGGAATTGAGCCTTACTTAACCTGGAAG___CATCCTGTTGTACCTTGTCATCTGGCTCTGTGGACAGGCCTTTCTGGTCTTCACACTGATGCAG|GCACAAGCAAACAGGACCTGACTTCCTTCAACATGGAGCTGTCCTCCAGCGGCATCAGTGCTGACCTCAGCAGG(___GGCCATGCAGTCGTGGGGGCAGTAGGAGCCAAGGACTGGGCTGGGGGCTTTCTTGACCTGAAGGCAGACCTGCAGGATGACACATTTATTGGGAATGAACCATTGACACCAGAAGTGAGAGCAGGCTATTTGG___GTTACACCGTGACCTGGCTGCCCTCCCGGCAAAAGACTTCGTTGCTGGCCTCGGGAGCCCCTCGATACCAGCACATGGGCCGAGTGCTGCTGTTCCAAGAGCCACAGGGCGGAGGACACTGGAGCCAGGTCCAGACAATCCATGGGACCCAG___ATTGGCTCTTATTTCGGTGGGGAGCTGTGTGGCGTCGACGTGGACCAAGATGGGGAGACAGAGCTGCTGCTGATTGGTGCCCCACTGTTCTATGGGGAGCAGAGAGGAGGCCGGGTGTTTATCTACCAGAGAAGACAG___TTGGGGTTTGAAGAAGTCTCAGAGCTGCAGGGGGACCCCGGCTACCCACTCGGGCGGTTTGGAGAAGCCATCACTGCTCTGACAGACATCAACGGCGATGGGCTGGTAGACGTGGCTGTGGGGGCCCCTCTGGAGGAGCAGGGGGCTGTGTACATCTTCAATGGGAGGCACGGGGGGCTTAGTCCCCAGCCAAGTCAG___CGGATAGAAGGGACCCAAGTGCTCTCAGGAATTCAGTGGTTTGGACGCTCCATCCATGGGGTGAAGGACCTTGAAGGGGATGGCTTGGCAGATGTGGCTGTGGGGGCTGAGAGCCAGATGATCGTGCTGAG___CTCCCGGCCCGTGGTGGATATGGTCACCCTGATGTCCTTCTCTCCAGCTGAGATCCCAGTGCATGAAGTGGAGTGCTCCTATTCAACCAGTAACAAGATGAAAGAAGGAGTTAATATCACAATCTGTTTCCAGATCAAGTCTCTCATCCCCCAGTTCCAAG___GCCGCCTGGTTGCCAATCTCACTTACACTCTGCAGCTGGATGGCCACCGGACCAGAAGACGGGGGTTGTTCCCAGGAGGGAGACATGAACTCAGAAGGAATATAGCTGTCACCACCAGCATGTCATGCACTGACTTCTCATTTCATTTCCCG___GTATGTGTTCAAGACCTCATCTCCCCCATCAATGTTTCCCTGAATTTCTCTCTTTGGGAGGAGGAAGGGACACCGAGGGACCAAAGGGCG___CAGGGCAAGGACATACCGCCCATCCTGAGACCCTCCCTGCACTCGGAAACCTGGGAG___ATCCCTTTTGAGAAGAACTGTGGGGAGGACAAGAAGTGTGAGGCAAACTTGAGAGTGTCCTTCTCTCCTGCAAG___ATCCAGAGCCCTGCGTCTAACTGCTTTTGCCAGCCTCTCTGTGGAGCTGAGCCTGAGTAACTTGGAAGAAGATGCTTACTGGGTCCAGCTGGACCTGCACTTCCCCCCGGGACTCTCCTTCCGCAAGGTGGAGATGCTGAAG___CCCCATAGCCAGATACCTGTGAGCTGCGAGGAGCTTCCTGAAGAGTCCAGGCTTCTGTCCAGGGCATTATCTTGCAATGTGAGCTCTCCCATCTTCAAAGCAGGCCACTCG___GTTGCTCTGCAGATGATGTTTAATACACTGGTAAACAGCTCCTGGGGGGACTCGGTTGAATTGCACGCCAATGTGACCTG___TAACAATGAGGACTCAGACCTCCTGGAGGACAACTCAGCCACTACCATCATCCCCATCCTGTACCCCATCAACATCCTCATCCAGGA___CCAAGAAGACTCCACACTCTATGTCAGTTTCACCCCCAAAGGCCCCAAGATCCACCAAGTCAAGCACATGTACCAG___GTGAGGATCCAGCCTTCCATCCACGACCACAACATACCCACCCTGGAGGCTGTGGTTGGGGTGCCACAGCCTCCCAGCGAGGGGCCCATCACACACCAGTGGAGCGTGCAGATG___GAGCCTCCCGTGCCCTGCCACTATGAGGATCTGGAGAGGCTCCCGGATGCAGCTGAG___CCTTGTCTCCCCGGAGCCCTGTTCCGCTGCCCTGTTGTCTTCAGGCAGGAGATCCTCGTCCAAGTGATCGGGACTCTGGAGCTGGTGGGAGAGATCGAG___GCCTCTTCCATGTTCAGCCTCTGCAGCTCCCTCTCCATCTCCTTCAACAGCAGCAAGCATTTCCACCTCTATGGCAGCAACGCCTCCCTGGCCCAG___GTTGTCATGAAGGTTGACGTGGTGTATGAGAAGCAGATGCTCTACCTCTACGTGCTGAGCGGCATCGGGGGGCTGCTGCTGCTGCTGCTCATTTTCATAGTGCTGTACAAG___GTTGGTTTCTTCAAACGGAACCTGAAGGAGAAGATGGAGGCTGGCAGAGGTGTCCCGAATGGAATCCCTGCAGAAGACTCTGAGCAGCTGGCATCTGGGCAAGAGGCTGGGGATCCCGGCTGCCTGAAGCCCCTCCATGAGAAGGACTCTGAGAGTGGTGGTGGCAAGGACTGAGTCCAGGCCTGTGAGGTGCAGAGTGCCCAGAACTGGACTCAGGATGCCCAGGGCCACTCTGCCTCTGCCTGCATTCTGCCGTGTGCCCTCGGGCGAGTCACTGCCTCTCCCTGGCCCTCAGTTTCCCTATCTCGAACATGGAACTCATTCCTGCCTGTCTCCTTTGCAGGCTCATAGGGAAGACCTGCTGAGGGACCAGCCAAGAGGGCTGCAAAAGTGAGGGCTTGTCATTACCAGACGGTTCACCAGCCTCTCTTGGTTTCCTTCCTTGGAAGAGAATGTCTGATCTAAATGTGGAGAAACTGTAGTCTCAGGACCTAGGGATGTTCTGGCCCTCACCCCTGCCCTGGGATGTCCACAGATGCCTCCACCCCCCAGAACCTGTCCTTGCACACTCCCCTGCACTGGAGTCCAGTCTCTTCTGCTGGCAGAAAGCAAATGTGACCTGTGTCACTACGTGACTGTGGCACACGCCTTGTTCTTGGCCAAAGACCAAATTCCTTGGCATGCCTTCCAGCACCCTGCAAAATGAGACCCTCGTGGCCTTCCCCAGCCTCTTCTAGAGCCGTGATGCCTCCCTGTTGAAGCTCTGGTGACACCAGCCTTTCTCCCAGGCCAGGCTCCTTCCTGTCTTCCTGCATTCACCCAGACAGCTCCCTCTGCCTGAACCTTCCATCTCGCCACCCCTCCTTCCTTGACCAGCAGATCCCAGCTCACGTCACACTTGGTTGGGTCCTCACATCTTTCACACTTCCACCAGCCTGCACTACTCCCTCAAAGCACACGTCATGTTTCTTCATCCGGCAGCCTGGATGTTTTTTCCCTGTTTAATGATTGACGTACTTAGCAGCTATCTCTCAGTGAACTGTGAGGGTAAAGGCTATACTTGTCTTGTTCACCTTGGGATGATGCCTCATGATATGTCAGGGCGTGGGACATCTAGTAGGTGCTTGACATAATTTCACTGAATTAATGACAGAGCCAGTGGGAAGATACAGAAAAAGAGGGGCTGGGCTGGGCGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTAGAGGCCAGCCTGGCGAAACCCCATCTCTACTAAAAATACAAAATCCAGGCGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGGTTGAGGTAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACACAGCGAGACTCCGTCTCAAGGAAAAAATAAAAATAAAAAGCGGGCACGGGCCCGTGACATCCCCACCCTTGGAGGCTGTCTTCTCAGGCTCTGCCCTGCCCTAGCTCCACACCCTCTCCCAGGACCCATCACGCCTGTGCAGTGGCCCCCACAGAAAGACTGAGCTCAAGGTGGGAACCACGTCTGCTAACTTGGAGCCCCAGTGCCAAGCACAGTGCCTGCATGTATTTATCCAATAAATGTGAAATTCTGTCCA)$ . 20BR008 ENSG00000185164.14 ENSG00000169340.10 -/- -/+ chr16:18529501 chr16:20395411 CDS/splice-site intron inversion/5'-5' 3 0 0 141 33 medium out-of-frame . Carboxypeptidase_regulatory-like_domain(100%)| . . ENSG00000185164.14 ENSG00000169340.10 ENST00000330537.10 . upstream upstream duplicates(2) ^(CTGGGGCTGTGAACGTGGCGTCGAAGCGCGCGTGCGCGGCGGCTCTGGCGGCGGCGGTGGGGCGGGGCCTGGGCTGTCAGCCGGCCTAGGAGGAGGAAGGAGCCTGCGGCGTGCAGTGTGAGGGGCGGGACCCGGCTGCCGGCGGTGGGTCTAGCTGGGGGAGGTCGGGCCATGCTGGTGGGCCAGGGCGCGGGGCTGCTGGGGCCCGCGGTGGTCACCGCCGCGGTGGTGCTGCTGCTGAGCGGCGTGGGGCCGGCGCACGGCTCGGAGGACATCGTGGTGGGCTGCGGTGGCTTCGTCAAGTCGGACGTGGAGATCAACTACTCGCTCATCGAG___ATAAAGCTGTACACCAAGCATGGGACTTTGAAATACCAGACAGACTGTGCCCCTAATAATGGTTACTTTATGATCCCTTTGTATGATAAG___GGGGATTTCATTCTGAAGATTGAGCCTCCCCTAGGGTGGAGTTTTG___AGCCGACGACCGTGGAGCTCCATGTGGATGGAGTCAGTGACATCTGCACAAAGGGTGGGGACATCAACTTTGTCTTCACTGGGTTCTCTGTGAATGGCAAG___GTCCTCAGCAAAGGGCAGCCCCTGGGTCCTGCGGGAGTTCAGGTGTCTCTGAGAAACACTGGGACCGAAGCAAAGATCCAGTCCACAGTTACACAGCCTGGCGGAAA___GTTTGCATTTTTTAAAGTTCTGCCTGGAGATTATGAAATCCTCGCAACTCATCCAACCTGGGCGTTGAAAGAG___GCAAGCACCACAGTGCGTGTAACCAACTCCAATGCCAATGCGGCCAGTCCCCTCATAGTTGCTGGCTACAATGTGTCTGGCTCTGTCCGAAGTGATGGGGAGCCCATGAAAGGGGTGAAGTTTCTTCTCTTTTCTTCTTTAGTAACTAAAGAG___GATGTCCTGGGCTGCAATGTCTCACCAGTGCCTGGGTTCCAGCCCCAAGACGAGAGTCTGGTGTATTTGTGCTACACGGTCTCCAGAGAAGATGGCTCGTTCTCTTTCTATTCCTTGCCAAGTGGGGGCTACACTGTG___ATTCCGTTCTATCGAGGGGAGAGGATTACCTTTGATGTGGCGCCTTCCAGACTTGACTTCACAGTGGAGCATGACAGCTTGAAAATCGAG___CCCGTGTTCCACGTCATGGGATTCTCCGTCACCGGGAGGGTCTTGAACGGACCCGAAGGAGATGGTGTTCCAGAAGCAGTAGTCACCCTGAATAACCAAATCAAAG___TTAAAACAAAAGCTGATGGCTCATTCCGCCTTGAGAACATAACCACAGGGACATACACCATCCATGCTCAGAAAGAGCACCTCTACTTTGAAACGGTCACCATCAAAATTGCACCGAACACACCTCAGCTGGCTGACATTGTTGCAACAGG___GTTCAGTGTCTGTGGTCGGATATCAATCATTCGCTTCCCGGACACCGTCAAGCAGATGAATAAATACAAAGTTGTCCTGTCATCTCAAGACAAGGACAAGTCTTTGGTCACCGTGGAGACAGATGCTCATGGATCATTTTGTTTTAAAGCAAAACCAGGGACTTACAAAGTGCAG___GTGATGGTTCCTGAGGCAGAAACCAGAGCAGGGCTGACGTTGAAACCCCAGACATTTCCTCTTACTGTGACCGACAGGCCCGTGATGGATGTGGCCTTTGTACAGTTCTTGGCATCAGTTTCTGGGAAAGTCTCTTGTTTGG___ACACCTGTGGTGACTTGCTGGTGACTCTACAGTCCCTGAGCCGCCAGGGTGAGAAGCGGAGCCTCCAGCTCTCCGGCAAGGTCAACGCCATGACTTTCACCTTTGACAACGTGCTCCCTGGAAAATACAAAA___TAAGCAT)CATGCATGAGGATTGGTGCTGGAAGAACAAGAGCCTGGAGGTGGAAGTGCTGGAGGATGACGTGTCTGCAGTTGAGTTCAGGCAGACGGGCTACATGCTGAGATGTTCCCTGTCTCACGCCATCACTCTG|CTGGAACGTGCAGTGCAATGCAAGAAGCATAGCAGCCATCTTGTGACCATCAGTTTTAATGTGTCAAGGATGAG MLVGQGAGLLGPAVVTAAVVLLLSGVGPAHGSEDIVVGCGGFVKSDVEINYSLIEIKLYTKHGTLKYQTDCAPNNGYFMIPLYDKGDFILKIEPPLGWSFEPTTVELHVDGVSDICTKGGDINFVFTGFSVNGKVLSKGQPLGPAGVQVSLRNTGTEAKIQSTVTQPGGKFAFFKVLPGDYEILATHPTWALKEASTTVRVTNSNANAASPLIVAGYNVSGSVRSDGEPMKGVKFLLFSSLVTKEDVLGCNVSPVPGFQPQDESLVYLCYTVSREDGSFSFYSLPSGGYTVIPFYRGERITFDVAPSRLDFTVEHDSLKIEPVFHVMGFSVTGRVLNGPEGDGVPEAVVTLNNQIKVKTKADGSFRLENITTGTYTIHAQKEHLYFETVTIKIAPNTPQLADIVATGFSVCGRISIIRFPDTVKQMNKYKVVLSSQDKDKSLVTVETDAHGSFCFKAKPGTYKVQVMVPEAETRAGLTLKPQTFPLTVTDRPVMDVAFVQFLASVSGKVSCLDTCGDLLVTLQSLSRQGEKRSLQLSGKVNAMTFTFDNVLPGKYKISIMHEDWCWKNKSLEVEVLEDDVSAVEFRQTGYMLRCSLSHAITL|leravqckkhsshlvtisfnvsrm 20BR008 ENSG00000106799.13 ENSG00000157625.15 +/+ -/- chr9:99129100 chrX:30871801 CDS/splice-site 5'UTR/splice-site translocation 3 0 0 88 9 medium out-of-frame . Activin_types_I_and_II_receptor_domain(100%),Transforming_growth_factor_beta_type_I_GS-motif(100%)|CUE_domain(100%) . . ENSG00000106799.13 ENSG00000157625.15 ENST00000374994.9 ENST00000378933.5 downstream downstream . ^(GGCGGCTAGGGAGGTGGGGCGAGGCGAGGTTTGCTGGGGTGAGGCAGCGGCGCGGCCGGGCCGGGCCGGGCCACAGGCGGTGGCGGCGGGACCATGGAGGCGGCGGTCGCTGCTCCGCGTCCCCGGCTGCTCCTCCTCGTGCTGGCGGCGGCGGCGGCGGCGGCGGCGGCGCTGCTCCCGGGGGCGACGG___CGTTACAGTGTTTCTGCCACCTCTGTACAAA)AGACAATTTTACTTGTGTGACAGATGGGCTCTGCTTTGTCTCTGTCACAGAGACCACAGACAAAGTTATACACAACAGCATGTGTATAGCTGAAATTGACTTAATTCCTCGAGATAGGCCGTTTGTATGTGCACCCTCTTCAAAAACTGGGTCTGTGACTACAACATATTGCTGCAATCAGGACCATTGCAATAAAATAGAACTTCCAACTACTG|GACACTGTCTTCAGCCTTTTCTTCAAGTTTTTGACCGTGGATTGTGTTGTGTCAAACTGGA(TGAATTATCTTAGTTGAATTTTCACCAGTTGAAAAATTGGAG___ATTTCTAGACTACTGAAAAGAAGTTGCTTTCAGAGCTGGAGATGTGAATAAAATTTCTGTGCCAGGGTTGATAAACCATCTTGAG___GATTCCATCCAGGAAACCCCATCACAGTTGGTTGTTATGTCTCCTTAGACTCCTCTTGGCTGTGACAGTTTCTCAGACTTTTGTTCTTGAGGAGTACTGATCAG___AAAATGACTGTGGTGCTAGAAGATCATTACTTTTGGAAAGCCGGTTAACATCCATTTCCTAAGAGAAACTTGGCCACCATTTGCTCTGGCATGGCGCAAAGCAGCCCACAGCTTGATATTCAGGTTCTCCATGATCTTCGACAACGTTTCCCTGAAATTCCAGAGGGCGTGGTGTCTCAGTGCATGTTACAG___AATAACAACAATCTTGAAGCCTGTTGCCGAGCCCTTTCCCAGGAGAGTAGCAAATACTTATATATGGAATACCATAGTCCAGATGACAATAGGATGAATAGAAATCGCCTTTTACATATTAACCTGGGTATCCATTCTCCTAGTAGCTATCACCCAGGAGATGGAGCCCAACTTAATGGTGGTCGAACACTGGTACATAGCTCAAGTGATGGACATATTGATCCTCAGCATGCAGCAGGTAAACAGCTGATATGTTTAGTTCAAGAACCACACTCAGCTCCAGCTGTTGTTGCTGCTACTCCCAACTACAATCCATTTTTTATGAACGAACAGAACAGAAGTGCAGCTACTCCTCCTTCACAACCACCTCAACAGCCATCTTCCATGCAAACAGGAATGAATCCGTCTGCTATGCAAGGGCCTTCACCACCACCGCCACCTCCTTCATACATGCACATACCTCGGTATAGTACAAATCCAATTACTGTTACAGTATCCCAGAACCTCCCTTCTGGACAGACTGTACCAAGAGCTTTACAAATTCTTCCACAAATTCCAAGCAATCTCTATGGGTCTCCTGGTTCTATTTATATTAGACAGACATCTCAGAGTTCATCAGGAAGACAAACTCCTCAGAGTACGCCGTGGCAGTCCTCACCACAGGGCCCAGTGCCTCACTATAGCCAGCGTCCTTTACCTGTTTATCCACACCAACAGAACTATCAGCCTTCTCAGTATTCTCCCAAACAGCAGCAGATCCCTCAGTCTGCTTACCATTCACCACCTCCTTCTCAATGTCCTTCACCCTTCAGCTCTCCACAGCATCAAGTGCAACCTTCCCAGTTGGGCCACATCTTTATGCCACCTAGTCCTTCAACTACTCCACCCCATCCATATCAACAAGGACCTCCTAGCTATCAGAAACAGGGAAGCCATTCAGTAGCCTATCTTCCATACACAGCATCTAGTTTATCCAAAGGTTCCATGAAGAAGATAGAAATTACAGTTGAACCTTCTCAAAGACCTGGGACAGCAATTAATAGGAGTCCTTCACCCATCAGTAATCAACCATCTCCACGGAATCAACACTCACTGTACACAGCCACCACGCCACCTTCAAGTTCTCCTTCAAGAGGGATATCTAGTCAACCAAAACCTCCATTTAGTGTTAATCCTGTGTATATTACATATACACAGCCAACTGGACCTTCTTGTACTCCATCACCATCTCCTCGAGTGATACCAAACCCAACTACAGTTTTTAAAATTACCGTAGGCCGAGCAACGACTGAAAATCTTTTAAATTTAGTGGACCAAGAAGAGCGCTCTGCAGCACCAGAACCTATTCAGCCCATTTCAGTGATACCAGGCTCTGGGGGAGAAAAGGGAAGCCATAAATATCAGAGAAGTTCTAGTTCTGGATCAGATGACTATGCCTACACACAAG___CCTTGCTGTTACATCAACGAGCAAGGATGGAGAGGTTAGCAAAGCAACTGAAACTTGAGAAAGAGGAGCTAGAGCGGTTGAAGTCTGAAGTTAATGGTATGGAGCATGACCTGATGCAGAGACGGCTCAGAAGAGTCAGCTGCACCACTGCGATCCCTACG___CCTGAGGAAATGACAAGATTGAGAAGCATGAACAGACAACTCCAGATAAATGTTGACTGTACACTGAAAGAAGTTGACCTCCTTCAATCTAGAG___GAAACTTTGATCCAAAAGCCATGAATAATTTTTATGACAACATAGAACCTGGCCCAGTTGTACCACCCAAGCCATCTAAAAAAG___ACTCCTCAGACCCCTGCACAATTGAGAGAAAAGCCCGAAGAATTAGCGTGACCTCCAAAGTACAGGCAGACATCCATGACACCCAGGCAGCAGCTGCAGATG___AGCATCGAACTGGCTCCACACAAAGTCCTCGGACACAACCTCGAGATGAAGACTACGAAGGGGCTCCATGGAATTGTGATAGCTGCACCTTTCTTAACCACCCAGCACTAAATCGCTGTGAGCAGTGCGAGATGCCACGGTACACCTGAATTCAGAAAAGTCTGCGCCAGGTTGAAAGTGAAACTTTGAGCACTACCAGAAGAAAAGGAAACCTCGGGACTCTATTCATCCACCCAGCCTTTTCATTTTCGATTGCACAGCGGGGAGGAGGAATGGCTTTGTGGTCGTCGTTGTGCTCACGAAAGGAAAAATGGGGAGGTCTTTTTTTTCTCCTTTCTTAACTCACTACAGAGTGAGAGATAGAAAGGGATACTTGAAACTGGGAAAGGATTCACTCTGTGAAAGAATGTACACACAGAAGTCAAGAGCTCTTCTGTGGTGGAATCCCAATTGTTAAAGTTACTGCTGAGTGGCCCTTATTTTTTAAAGTAGTACTTTGAATCATAGTATGAAATGCTACAGTTTATGCAAACTGTGAATTCCCAGAGCAGACTTACCTGGTCACCGCTCTCTGGAAAACCAAGGCTCCCCGTGCTTCTTCCCATTGCTTCCTACTAAAGAGGACAACAGGAAAAAGCACCTAGAATATTTGGGGGGGGGGGGCAAATTAATTAAGGGTATTTGTAATTGCTGCTTTTTTCAGGGGTAATTTCCAACACACATACATGCACACAAACAAAATGTTTTAAAATGTGATTTGTAGCAGTCAGGAACTAGGCATATCATGCCTTTGTTTAAAAGTACAATCAGAGGTGGTAAGATGCCTTTGGCTTGTACAGTGTGATTCATCGAGCTCTATCAACACTGGTAACTAAGACCTACTTATGCCACATAAGAGATGCATTTTTTTAAGTTACTGCATGTTTTTATTAAGGCCATTGGTTTTCAAAATAACAAGTCCTTACAAAGTATGATTTTATAAATGATATTCTCGTAAAACTGCGCTTTGCCAGTAGCACAGTGAATGTATGCCAAATGCAAGTCCATTCCAAAATCCATTTGGAAATCTTGAGCTCAGCTGTGGTTCTTAAACTTTTGCAGTCCATAGGGCCTTTTTTTTTTCCTTCCAATTTTGTGATAAATTCATGATGTTTACAGCACAGATAAAACTTTGTGCCATAATCCTAATTTAGCTGAAATCAATATTAACTGTTCAATAAAAACTTACTTGCATATGTTAACAAACCAGTGTGAGGGGAATTACAGTTGGCCAACGACAAAGTTGCACACTGCATTATTTAGGAAAGGAGGGATTGTCAAAAATTATTAAGAGAAAGGTGAATATAGAGGACTTTGAAACAACTTTTAAAATTTAACATAACTGTATCTAGAGGTCAATTGAGTCTCTACAGGCAGTTCAGATCATTTTAAAGCACTCCTTATTTATGAAATAGAACTTCAGGGTGCGGATAAGAGATATAAAGTCATGTGACTCACTAGGGTGCATCGCTGGAAACTTAATAGCACATTTCATTAAGGTCTCTGCCATTGTTGGAGTTCCTTCTTAGCTCAGAATTGGAGTTTTGGAATCTTCCCCTCATTTTGGTGAGTATAAACAGCAATAAAGTTAGTAGGTTCTCCCATCCTAAAGGATTTTACCTGAGGATATCGTCTTAGGAATATCCATAGACGCTCCCATCAGGTTTCTCCCCCAACCCCCCTACACCGCCCCCCCACTTCTAATTTAGCAGTAATCTCTGGCAGACCTGGAAAAACAAGCTGCTCTTAATAGCATAATGAAACCAAAGGCGTAATAACTCATCATAGTTTTCCATCAGAATCATTTCACACTCTGCCTACAGCTTTGAAAACATTTTTTCATATGTGAAAAACTCCCCAAAATATATCCACTAGTCTCCCAAAGGAAGCATGGTAATTAACACTGATAAAAACATCTCTCACACAACAACTGTGGCAAAACTGTGAAAATAACGGTGAGAAAGCAGATGGGCTTAAAAGCATGGTCCCCAAAACAACGTTCTTCAAAGGTTTTTGTAACACTGGTCTCTGTCTCCAATAACAGTCTAGCCGTCCTACTGTTCTGTAATATGCCTTTGCCTTTGTATGGTTTCATATCTCTTTAGTGATGGTCAACCCCACTTGGTTTTAAGTTACAATTTAGGGGAAATATATATATATATACTGCTTGGTGTCCTAGCTAAAAGGTTTACCAGTATTCATAGTGATATGCTGAAGTGGAGGCAATTAACTTGGCAGTTGTCAGTTGAGAATGAAAGTAGCATGTCTGAAAACAGTCTGATGCTTTATAAAACCATGTAGATGACTTTAAAACTATTGCATGAAAATACATCAAGGTTAATAAGCTGTTATACAGTAGATGCATGGTTTCAATCCTTTGGTGATATTATCTAGTCAATCATTGTTTTCACCTGCCAGGAAAAGAGAGAAAACAGTCTATTGGATAGGTGTAAAGGGTGGGGTATGCGGTATCAGATTGATTTTAAGGAAGTTTTGTACATGTTAATTTTTAATTGTGCACAAGTTTCATATGCCAACATAGGCTGTATTCAGTTTTAAAATAGGCAAAATGACTTGACACTGATAAATCTGGTATGTTTAACTGTGTCCCATATGTAGACTGCTTTTTGCCTATGACCAGTTTGAACAAGAATTCACCCAACTTTCAAGATGCCTTTTCAAAAGGATCTTGTAGTCAGTTGGTATGTACAGACAATTGGCATGGAAGTGGTAGGATATAAATCGGATGACGCCTGGCTGCTGAGGTGCCAGCTGGATCAGCTGGTGCACTTCTTGTTTCTTGTAAGAGGTTTCTTTAAAATGACTAGTTTGATGTATCTGGTAACATATAGGCCTGACTATACATTTTACATTATTTCGCTATTTTGTAAACTGGGATTTTAGAAAGCACGTTTGCCATTTTGTTAAAGTACATTGCCCCTTAAATTTTGGAGTAGTTTTTAAAAGTTTAAAATGGTAATAGAGGAGCCAGAAACTTTTTAAGCATTGTAAAATGTTTTGAATTGATATTGACTTTGTTTGGAAGAGAGTAGAGGCAGGGGGCTTTAAAGAAACAAAGAAATGCATTGTAAAAATGTAGTTTTAGAGCAAATTAATAATGATGGTGGGGAAAGTGTTGCTAATTTGTTTATTTCCCTGGAAGAAATGGGAAGTGTGATAAGCAGTTTAATTTTTAAGGAGCTGGTCTCAATTTTAGTACTTTTTAATTATGCAAATAAATCAATGTTTCCTTAAATTTTGTCATTGCTTTGTCACAGTTGTCTAGGGTTCATATCCAACCTTCTGTGGCAATTCAATTTTATATAGTCTTTTAAGAGGTAATTGTAATGTATTTCTGACAGTATAAACAAAAAGAATATAAGGCATAGAAGAATTGTCCTCTAAAAATATCAATGATGTATCCTGGAATGTGAAGATGTCCCTTTATAGTTAAAAATTGAATTATTTTAATATTGTACCATTGTTAGACCTTGAATGAGTCCATGTTACCGTGTGTGTCTGTATATCTATCTGTAGAGAAAGAAAAATGACAACTGAAATGTTACTTTTAAAAATCAGAATAAATTGGGCACTGTCTGTGTTGCACCACTACTGTATCTTTTCGAAAGAATTAACAGTATTTGCCTATTGTAAAGGTTAATTCTGATGACGTTTTCACATTCACCAGACTTTTTTTCCTGTATTATTTGCATCCCCAAATATTTAATACAAGTAGATTCTGCATGGCTTGGGCATTCAGAGATTAATAGAATGATGACTCAATTTTAATTCTAAAGCCATGAAAAGTTACTTTGAGACTGAACAATTCTGAATTATTTATGATACCCAATGTCCATGTTTCTTTCCCTACTGTAAAAGAATTGATCAGTTTCTTCATTAAAGCAGCAAAAACTTATTAAATCTTGTAAATACCATGTCTCTTTTAGATTTCTGTGTATGCTGTGAATGAAATCATTTTGAGATGAAATTGTACAAAGGCATTTTAAAAGGCTCTGCATGCATCGTACCTCCAAACAGTACATATTCGGAAAGTCAAAGATTCCTGCAAAATAAATAAACTAAAAGCAAACACTA)$ MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTT|ghclqpflqvfdrglccvkldels* 20BR008 ENSG00000158545.15 ENSG00000157423.18 +/+ -/- chr16:88611536 chr16:70904064 CDS/splice-site CDS/splice-site inversion 0 2 0 0 3 medium in-frame . . . . ENSG00000158545.15 ENSG00000157423.18 ENST00000301011.9 ENST00000393567.7 downstream downstream . ^(AGGACTACCGTCGCGGCCTGATGACGTCGCACAATGGCCGGCCCCCGCGGGTAGTGGAGCCCGTTTGTTCCGCCCGTGTCGAGCCTGGAGCCAGAACCTGTGAAGAGCGGAAGGGCCAAGGGACGTCTTCTCCACGCCGCTCCGACTCCAGGGGAGCCGTGGCCTCCTCTCCGCCCTAGCGCTGAG___AACCGTGGGTACCGATGGATGTGGCCGAGAGCCCTGAACGGGATCCTCACTCTCCAGAGGATGAAGAGCAGCCACAGGGACTCTCGGACGATGACATTCTGAGGGACAGCGGGTCCGATCAGGATTTGGACGGGGCGGGGGTGAGGGCTTCTGATCTGGAGGATGAGGAAAGTGCAGCCAGGGGGCCGAGCCAGGAGGAGGAAGATAATCACTCCGACGAGGAGGACCGGGCAAGTGAGCCTAAATCCCAAGACCAGGACTCAGAGGTGAATGAGCTGAGCCGGGGCCCGACCAGCTCCCCCTGCGAGGAGGAGGGGGACGAAGGGGAGGAAGACCGGACAAGCGACCTTAGGGATGAGGCCTCCTCAGTCACCAGGGAGCTGGATGAGCATGAGCTAGACTACGATGAGGAGGTTCCTGAGGAGCCAGCTCCCGCCGTCCAGGAGGACGAGGCTGAGAAAGCGGGGGCTGAGGATGATGAGGAGAAAGGCGAAGGCACTCCCAGGGAGGAGGGGAAGGCTGGTGTTCAGAGTGTGGGAGAAAAGGAATCCCTGGAGGCTGCCAAGGAGAAAAAGAAAGAGGACGATGATGGAGAAATCGATGATGGGGAAATAGAC___GATGATGACCTGGAAGAAGGTGAAGTGAAGGACCCCAGTGACAGGAAGGTGAGGCCTCGTCCCACCTGCCGGTTCTTCATGAAAG___GGAACTGTACCTGGGGAATGAATTGTAGGTTTATACACCCTGGAGTGAACGACAAGGGGAACTACTCCCTAATCACCAAAGCCGACCCCTTCCCGCCTAATGGTGCCCCGCCTCTCGGACCTCACCCGCTGATGCCCGCCAACCCTTGG___GGTGGGCCGGTAGTTGATGAAATTTTGCCTCCACCCCCTCCAGAGCCCCCAACAGAGAGTGCCTGGGAACGAGGACTCCGGCATGCAAAGGAG___GTTTTAAAAAAAGCAACTATTCGAAAAGAACAGGAGCCTGATTTTGAAGAGAAAAGGTTTACGGTGACCATTGGCGAAGACGAACGGGAATTTGACAAAGAAAATGAAGTTTTTCGAGATTGGAATTCTCGGATCCCGAGAGATGTCAGAGACACAGT___ACTCGAGCCTTACGCAGACCCTTATTATGACTATGAAATTGAGCGGTTTTGGCGTGGCGGACAGTATGAGAATTTCAGGGTGCAGTATACAGAAACAGAGCCGTATCATAATTACCGA___GAAAGGGAGCGGGAGCGAGAGAGAGAGAACAGACAGCGCGAGCGCGAGCGGGAGCGGGAGCGGGACCGAGAGCGGGAGCGCCGGCAGAGGGAGCGCGAGCGAGAGCGGGAGCGCGAGCGCGACAAGGAGCGGCAGCGGAGGAAGGAGGAGTGGGAGCGTGAGCGAGCCAAGCGGGACGAGAAGGACCGGCAGCAC)CGTGACCGCGACCGGGAGAAGGAGCGGGAGAAGGAGAAGGGGAAGCCCAAGCCCCGCTCCCCGCAGCCGCCAAG|GTACAAGTCATCCTTATTCCCAGGCAACATGGAGACGCTAACAATCCTGAACACTTCCTTAATGGTGGTGGAGGCATCCTTCTATTTTCAGAATGATGTCAAAGCAAACACGTACTTCCTGGAACCCAACACCATGGTCCTGAAAC(CCAATGAGAAGCAG___ATATTAAACGTATGGGCCTACCCTACTTCAGTTGGTGTCTTTGAAGACAGCATTGTCTGCTGCATCAATGACAACCCAGAGCCAGCCATCTTCCAATTAAGCTGCCAGGGGATCCGCCCGGAACTAGAGCTGGAACCCAGGCAATTACATTTTGACCGGCTCTTGCTGCACAG___ACAGGAATCCAGGGTAGTTCTTCTCCGCAATGTCACGCTCCTGCCTGTGGCCTGGCGGATCACCAGCCTGGAGCACTTGGGTGATGATTTCACTGTATCCCTGATGCAGGGGACCATCCCCCCTGAGGCTGAGTACGGCCTGCACCTGTACTTTCAGCCCACCAAGCCTGTCAACATCAAGAAGGCTATTCGGTTGGAG___GTTTTAGATGCAGAAAATCTTCTTGGTGTTGTTCAGATTGAAAATATCATGGTCTTTGCAGAGGCATACGACATCGCCTTGGACATCACCTTCCCCAAAG___GAGCTGAAGGGGGACTGGATTTTGGGATTGTCAGGGTCACAGAGGAGGCGAAGCAGCCCCTGCAATTGAAGAACCGTGGGAAATATGAGATCGCGTTCAG___CTTTTCCGTGGACTCTGTAGGGATTTCAACACCTAATATAAATTCCATGATCTCAGTCCAACCCAAAAAGGGTTCACTGACCCCAACAGAAAAACCCACAAATGTCCAAGTTTTCTTCCATGCAAAAAAGGAAGTGAAGATTGAGCACCAGCCTGTTCTGCGCTGTCAG___ATTATTGAGCCCAATATTTCAGAAGGAGGTGAGATCATTGCCAGCATCCCAATTAAGTTTTCCGCGAATGCAGTATATTCCAAATACAACATCACCCCCTCCTCTGTCATCAACTTTGGAGCTTTGATCTGTGGCACTCGTAAAAGCACCACCTTCACCATAGAAAATCAAGGTGTTACTGACTTCAAGTTCGCCCTTTATAAGCTGACAGGGGAGAGCCCCATTCATCAAAAGAAAGC___AGCCAGCCACGTCAGACATGCAAGATCCCGAGAAAGTGAGAGCTTCTACAAAACTGGCTCTTCCAGAGCAGCCAAGTTCTCTGACACGATTCAGAAAGAAGTAACCACCACAGGCCAG___GCCCGCTTCGCCCATGGCATGTTCACCGTGTACCCTGGGTTTGGCTCCATTCCTTCCGGAGGACAGCAGGTCATCAACGTTGACTGTGTGGCTGACGCCATGGGAAAGTGTGAGGAGTTTATAGCCATCGATATCTCCGGCCGAGACCCTGCAGTCCACCCTGCCGGCATTCTTTACACTTTGCTAGCTGAAGCCTGTCTACCAG___CCTTCGTGACCGAAAACAATGCCTTGATATTTGAAGAGCACCAGATATGTACCAGTGCCAACCTGCACCACATCCTGCAGACCATAGAGAGCGGGGGGCTGTTCGTCGAGGATGAGAACAAGTTCATCTTCTGCAATGTCCTGGTGGGCCGCCAAGCCAAGGCTCGTTTCAAGATCAGCAACGTGGGAAAGATCACCTGTGATGTCAACATTGTAGTCAGGCCTATCTCCAATAAG___CCCTTTGCCCGCATCGTCGACATTTTTGAAGTGGAACCCAGCAAGATGTGCATTGCCAGTCATTCCCATGCCTTTGCCACGGTGTCCTTCACCCCGCAGATCATGCAGAACTACCAGTGCATCTTTGAGGCTACCTTGGATGGCTTGCCCAG___CACCCTGGCCAAGAGCCGAGGCCTCGTGTTTGACATCGCTGGTGAGGGGAACCTCCCTCGAGTGACGGTTGTGCGGCCAGTTCTTCATAACCAATATGGAAACCCCTTGCTCCTCTTTAAGAGGCTTCTCCTTGGTCATTCAGAGAAGCTGCCTCTCATCCTCAAGAACAATGGTGTCCTCCCTGCCCAG___CTGCATGTTGACCTGCAGGATGAGCTAGGAGTCTTCTCCCTGAAAGGGAGGCCCACCACCGCGTATATCTACATCACAGAGGAAAATAAACCACATGTAAAAG___CAAAGAAAGCTCACACAGCCTCCTTGGTTGTTTCTCCTGGAGATACAGCTGAATTTGATGTCGTTTTCCACTCCCAGAAGGTTGGGAGGATGAGAGGTATCATCCACTTGTCAGTGATCAACAACCAATATGAGGAGACCTCCATCCACATGGTGGGAGAGGGCTATGAGGATGACATCACCTTGGACAACATCCATGGACTGGTGGCCCCCACCAGCCAGGAAGACATAAGTATCTCTGAGTTCACAGAGATCATCGAGGACAATGATATGGAAGACTTGGTGGCAG___CTGCTCTGGTGGACCACATCCAATTTGGGGACTGCCACATTGGACACAGCTATAATGCGAGCTTCACAGTCACAAATCACAGCCAAGTGAACTTGATACGGTTTGAATGGCCTGTTTCAGCTACAATTGCTTTCTCCCCACAG___ATGGGCCACCTCCACCCTGGGTGTGCCAAGGACATAGTGGTGACCATGAAGTCAGATGTACCCATCAACCTAAAGAATATGCGGATCAGGTGCAAGCTCTCCAGGATTATGTTTCAGCTCCCTGCAGACCAGGTCCCCGACTGGGATGACCGCATGCACACAGTCAAGTGGGTGGACGTACCCAGAAACATGCCTGGGACTTTCACTACAAAACGAAAA___GTGATAGAGACGGATCCGGAACCTGCTCACTCAGTACTAGAAGAAAACTACCAAGAACTGCAGCTTCAAATCAGTGCCAATGTGGATTTCGCTTCATACCATTGCCAAGCAAGAGATGTGCGCTTTAAGGAAACCTTGGTTTACCAGACCCGAGTGTTTGA___GTTCGATGTGATTAATTCAGGACGTGTCCAGCTGGAATTCAGCTGGGTCTCAGAAGATACCTCAAAGGCAGTCAGCTTTGCAAAACCAGATCACCAAG___GTTCAGCTCAAAAAGATCAGCTTAGTCAGGGCACGATGCATACAGGCAGCACCCTGGACAGCACCATGGACCACTGGGCCGAGGGTTCCCCACAGCCCTTCTCTGTGGAGCCCTCTTCGGGAATCGTGCCGGTGGGGAAGATTCAGAAGTTCAAAGTAAAATTCTCCCCGTTGGACATTGGAGACTTCGAGAGCAACCTTTTCTGCCA___GATTCCCAACCTGCCACCTGGAGAGCAAGGTCCGGTCCTGGTAGCAAAAGGGCGGAGCACCTTGCCCATCTGCCATTTTGATCTGAAAGACTCGGACTACATAAGTGGCCATCAGCGCAACCCAGAGCTCCGAGGGTCCAGTGGGGGAGCTCTGGATCCAAACACCCGGGTGATTGAGTTCACCACTGTGGGCATAGGAGGGAAGAATCTCCG___GACCTTTACCATCCTAAACCCAACCAATAGCACCTACTCCTTCTGCTGGATCTCTGAAGAAATTGAAAGTCTCCAGAACCCTGCAGCATTCACATGCCTTACAGAAAAGGGCTTCATCCACCCTGAAAAGAAAGCCGAG___ATCGTGTTCCAGTTCACACCTTTCCATCTGGGCATCACTGAGTCATCATGGACCTTCCTAATTCCCGAGCACAACATCACAGTCCCTTTCCTGCTGGTAGGCAAAACTACCGAACCTCTCATCTCTCTGAACAAGTCACACCTCAACTTCAGCTCTCTCCTCATTG___GCAGAGAAGCCAGGGAGACTGTGCAGATCATTAACAAGGAGGAGCAGGGGTTCGATTTTTCCTTCCAGGACAACTCCCGCTATTCTGAAGGTTTCAGCAACAGCCTGCTTGTATGTCCCATGGAAGGCTGGATCCCACCACTGTCCAG___GTTCCCAATTGATATTTTCTTCACACCAAAGCAGGAAGGAGATGTGAACTTTAATTTGATCTGCAATGTGGAAAAGAAAGTCCACCCTGTGACATTAAATGTCAAGGCCGAGGGCTACACTATGAATGTGGAGATCAAGTGCAAGGACAGGACAGGCTCCATCACTCTGTTGACTCCCAACCAGACTAACATCATCAACTTCTATGAG___GTGGAGTTAAATGAATGTGTCCAGTGTGAATTCAACTTTATCAACACTGGAAAGTTCACCTTCAGCTTCCAGGCACAGCTGTGTGGCTCCAAAACCTTGCTGCAGTACTTGGAATTTTCACCCATCGACAGCACTGTGGATGTAGGACAGAGTGTACATGCCACCCTGTCTTTTCAACCATTAAAGAAGTGTGTCTTGACAGACCTGGAACTCATAATCAAG___ATCAGCCATGGTCCAACATTTATGTGCAACATCTCAGGCTGTGCTGTGAGCCCGGCTATCCATTTCTCCTTCACCAGCTACAACTTTGGGACCTGCTTTATCTATCAAGCTGGGATGCCCCCATACAAACAAACCCTGGTAATTACCAACAAGGAAGAAACACCTATGAG___CATAGATTGTCTGTACACCAACACCACTCACCTCGAGGTGAACTCCCGTGTTGATGTGGTAAAGCCAGGAAACACATTGGAGATTCCAATAACTTTTTATCCTCGAGAAAGTATCAACTATCAAGAACTCATTCCCTTTGAAATCAATGGGCTCTCACAACAAACAGTCGAAATCAAAGGGAAGGGTACCAAAATGAAG___ATTTTAGTCCTAGATCCAGCCAACAGGATTGTGAAGTTGGGAGCTGTCCTACCAGGGCAGGTTGTGAAAAGAACAGTTTCCATCATGAACAACAGCCTGGCCCAGCTCACATTTAATCAGTCCATTCTGTTCACAATTCCAGAACTCCAGGAACCCAAG___GTCCTTACCCTGGCGCCCTTCCACAACATCACACTGAAGCCCAAAGAAGTCTGTAAACTGGAAGTCATCTTTGCCCCGAAGAAGCGTGTCCCTCCCTTCTCTGAGGAAGTGTTCATGGAATGCATGGGGCTCCTGCGCCCCCTCTTCCTCCTTAGCGGCTGCTGCCAGGCCCTGGAGATCTCACTGGACCAGGAACATATTCCCTTTGGACCCGTGGTGTATCAGACGCAAGCCACACGTCGCATCCTCATGATGAACACAGGCGATGTGGGTGCAAG___GTTTAAATGGGACATCAAAAAATTTGAGCCTCATTTCTCCATTAGCCCAGAAGAAGGCTATATTACCTCAGGCATGGAGGTTTCTTTTGAAGTGACCTACCATCCCACCGAGGTGGGAAAGGAGAGCCTTTGTAAAAACATTCTCTGCTACATCCAGGGAGGCAGTCCTCTGAGTCTAACCCTGTCTGGAGTCTGCGTGGGACCACCTGCGGTAAAAGAG___GTAGTGAATTTCACGTGCCAGGTGCGCTCCAAGCACACGCAGACCATCCTGCTGTCAAACCGCACCAACCAGACCTGGAATCTGCACCCCATCTTTGAGGGCGAGCACTGGGAGGGGCCTGAGTTCATCACCCTGGAGGCCCACCAGCAAAACAAGCCCTATGAGATCACCTACAGGCCCCGCACCATGAACTTGGAGAACCGCAAGCACCAG___GGCACCCTCTTCTTCCCCCTCCCAGATGGGACCGGCTGGCTGTATGCTCTGCATGGGACTTCTGAGCTCCCCAAAGCTGTAGCCAATATCTATCGTGAAGTGCCATGTAAGACCCCCTACACTGAGCTTCTGCCAATCACCAACTGGCTGAACAAGCCCCAGAG___ATTCCGGGTCATCGTGGAAATACTGAAACCAGAGAAGCCGGACCTAAGCATCACTATGAAGGGCCTTGATTACATTGATGTACTGTCTGGCTCTAAGAAAGACTACAAGCTGAACTTCTTTTCCCACAAGGAGGGAACGTACGCTGCAAAG___GTGATCTTCCGAAACGAGGTGACAAATGAGTTCTTGTACTACAATGTGAGTTTCAGGGTCATCCCTTCAGGCATCATCAAAACCATCGAGATGGTGACCCCAGTCCGGCAAGTTGCGTCAGCCTCCATCAAGTTGGAGAACCCTCTGCCCTACTCGGTGACCTTCTCCACGGAATGCCGGATGCCCGACATCGCCCTGCCCTCCCAGTTTGTGGTGCCTGCCAACTCCGAG___GGCACGTTCTCATTTGAATTTCAGCCCCTGAAAGCTGGAGAAACCTTCGGAAGACTAACTTTGCACAACACTGACTTGGGTTACTACCAATATGAGCTCTATCTGAAAGCCACGCCAGCACTTCCGGAAAAGCCTGTTCACTTCCAGACTGTCCTTGGCAGCAGCCAAATCATCCTTGTGAAGTTCATCAATTACACACGGCAGAGGACAGAATACTACTGCAGG___ACCGACTGTACAGACTTCCACGCAGAAAAACTCATTAATGCAGCCCCAGGAGGCCAGGGAGGCACTGAAGCCAGTGTGGAAGTCTTATTCGAGCCCAGCCACCTGGGTGAGACCAAGGGCATCCTGATCCTATCATCGCTCGCAGGTGGAGAGTATATCATCCCCCTCTTTGGAATGGCTCTGCCTCCCAAGCCCCAAGGTCCCTTCTCGATCCGAGCCGGGTACAGCATAATCATCCCCTTCAAGAATGTCTTCTATCACATGGTGACCTTCTCCATCATCGTGGATAACCCAGCCTTCACCATTCGCGCTGGAGAGTCTGTGCGGCCCAAGAAGATCAACAACATCACAGTCTCCTTTGAAGGAAACCCATCTGGCAGCAAAACCCCCATCACCACCAAGCTGACTGTGAGCTGCCCTCCTGGTGAAGGGAGTGAGACTGGAGTTAAATGGGTTTATTATCTGAAGGGGATCACCCTTTAGTGGTAACCAGGGTTACCTGTATCAACCAAAAGCTATGCATTGTCTTAGCCTGAAAAAGAATAGAGAAAACAATAAGAATTCTAAAGGAACTGTTTTTATTCTTCTCATACAATTATAGGGCAGTTATTTCCCTATTATGTGTTTTCCAAATATAGATATGAAATATCTATTCCATATTAAACATTATAACTACACACAACAGCTCTATATTTTAGACAACTGAATCCTTGTGAGTCCCTAAATTGAGTTTCTTGACATAGCCCCAAAGCTCAAGTACTTTGTAATAATTCCCATTTTTATCAAGAAGGCACAGGTATCACACTAGTGACCTTCTACTCTACAACACTTAGCAATGCGTGACGCTGGGTACTGCAGTTTCTTTTTAAAATCCAAAATGGTTTAAAAAGCCCTTAGACATGACTATTTTGATGTGGCATTTTATTCTGCTTTCACATAAAAGCCAAATAAATATTTTCAGAGGGATGAGCAGATAACATTAGGGCAATCCAGGGACACTCCCATCACTTTTTCTCTTGGCTTTTATACCATCAGTGTCCGAATCCCACATCTGCCCTACACAGAAAGTTCTCACTGAAGTCTAGGCCCTGGAGAAAGGCTAATAGAGATCCCAGCTCCCCCCACCACACATACACACCCCGCCTTGGATAGCATTCAGCAGGAGAGCAGGGATTCTCAACCCATCTGCACATCAGGACCACCTAACTCTCACTCTGAACGTGCCCAGTCCCCATCTGATGTAATTGGTCTGGAGAGGGGTGTGGGCATCTTTATTATATACATTTAACTTGTATAGCAGATGGTTAAAGTCTGGCCCTGGCATGGGTTTGCTTCTGCAGACATACACCTCTGACGGAGGGTCCCCCTGCCTCTACCTGCTCCCCACACTCATCCCCCACAGCCCTCCTACAAGAGGGGCAGGAGACTGGAAGAAGATGGCCTCTTGGGAATGAATGCCGTAAAGAAGTGGGTCTTAAAAATGGTCCCTGGGCCAGCAGCAGTACTATCACCTGGGAATTTATTAAAAGTCAAACTCTCAGTCCCCATGTCAGATCGACTGAATCAAAAAGTCTGTAGGTGTGGCCCGGCAATCTTTTAGCAAGTCCTTATACCTGTCAGAGGTGGCTTTCATGGAGGGAGACTCTTCTCCTTCTTCTGTACCTCCCCACAACCCTAGCCCAGTATACTCTAGGACCAAAAAAGCTTTTTCTAGAATGTCTGTAAACACAGACCTTTACAATAGTCCTCCCTCATCCTCAGGGGATACATTCCAAGGTGCCCAGTAGATGCCTGAAACCACAGATAGTACTGAACACTCCATATACTGTGGTATTTTCCTTTACATACATACCTTTGATTAATTTATAAATTAGGCACAGTAAGACATTAACAATAATAATAATAAAATGTAATAATTATAATAATATGCCAGCATCACTACCCATGTGCTTTGGGGCCATTATTAAACTAAATAAGGTTTCCTTGAACACAAGCATTGCGATCCCATGACAGTTGACCTGCTAACCCCAAGTCATCTACTCAGTGACTATCAAGTAGGTTGTGTCTACAGCATGCATACGCTAGACGAGGGGATGATTCACATCCTGAGCAGGATGGAGTGGGATGGCATGAGATTTCCTCAAGTTATTCAGAACAGCATGCCATTTAAAAAGTATGAATTTTTTATTTCTGGAATTTTTCATTAAATATTTTCATTCCACAGTTGACCACAGGTAACTGAAGCCATAGATGAGGAGGACTGCCATACTCAATAGACAATTTATTTCTATAACCTCTAAAGACACTACTGATAGGTCTAAAGACAACCAGATGACAGATTTTCACAATGGTTAAGTGAGCAAAGATCGCTCTGACCAATAATCTGAGAGGATGCTAAGATCAATGAGCAAGAGTGATGACTTGCAAATATACAGCATCTGTATAAAGTCAGTGCTTCTGAAATATTAGTATACATCAGCATCCCCTGGAGGGCTTACTGAAACAGATTGCTGAGCCCCACCCTCAGGAAGTCCGATCTAGGAGATTTGGGTGGGGCTTGAGAATCTGCATTTCTAACCAGTTCTTGGTGATGCTCGTTGGTGAGACCAATCAGACTGTGAGAACCACGACTCTAAAGCCTCGAGCCTCCTGGTTATTCGGAGTGGCCTATGGACCTGCAGCATCAGCATCACCTGGGAATTTGTTAGAAAGGCAGGCCCTCAGGCCCCACCCTAGACTTGTTGAATCAGAATCTGCATTTTCATGGACCTCCAGGCGATTTGCATGCACATTGCAGCTGAGAGTGCTACTTTAAGGTACCTGGCAAAACTTGACATTTGCCAAACCCACAGCCATAACTCTTTCATTACAGTCCTGAGAAGTCTTACCAAATCTGCATAGGACCTAGTTGATGAAATTAACCCTCCCCAAAATGTGCCTCCTTCCACCTATTCACCAGAGGTATAGGTTAGGAGAAGGGAAGCAATTGGTCCCTCACCCTACTCTTCAAAAGGGTGTACTTTTTCAATAATGGTCAATGTGGTACACCAAGTGATCCCTAAGACTAAAGAAAAGGTGGAAGAAGCTGTCTGAAATCTTGTCTAACATGCCACCAGCCCCAGCATGGCTTATAGCCAGCCTTGGGGTGGCTAGGGGCAACTCCCCCAACTTCAGACCTGTTCCAGTGCTTCCCCAAGCCACTGAAGCTGTCCATATACATTTTATAAAAGTGATCAGGGAGAAGGGAGGGGGAGAAACAAAAACGAACCCAGGTTGCAGCACACTCAGCATTAATCACTAGATCAGCCTGCGCTCAGACCTGCTTCCTCATAGCTGTTTGGTGCCTGCTGTTTCAGAATCACGTAGACCCTGCTAAAGATCATAGTTCCCCTCAATGCTCTGGAGATAACAACTTGAACATTAGGAAACGTTAAGTTTTCCGTTTGAGATATTTATTCTTGGTCCTGTGTACCAGTGAAACAACTGACATCAGCTGATCTGAAGGACCTCACGAGAAGCTGATTCACCAAAGAATGCGGTTTCCACATCCTGATGATTTCATCCGTCTTACCCAACCAATCAGTCACCTGGTTTTTCAGCCCTTCACCCTCCAGGATCCCCTTAAAAACCCCAGTCCAGAACTCTTCCGGGAGATGGATTTGAGGGTCTCCTCCCATCTCATCACTCAGTGACCTTTGATCATCACTTTCTCTGCTGCATCCCCACTGTCTCTGTGCATTGGTCTGTTACTGCACAGTGGGCACACAAACGTGTTGGTCCTATAACACCACTGAGTCTAGGGTCCAAATCCTCCTAGCCCCTGAGAGAGGAGGAAGTTCCTTCTCCCTGGGACCAAGAGCCAAGCTCAGATCCTGCCCCAGTGTGAACCCTCTTCCAGGCTGGTTTGAGATTGGGTGCATTTCTTCCCTTTAGGTTTTTCTCGTGCTTCCTTAGCCTCAAACAATAACAAAATAGTCTTATATTAGCAAATTTGGAATGGCAAAGTAGCTTAACAGCAGGCTTGATGAAAATAACCCTTCCAACACATGCTTGTGGAAGTTACATTGGAGAATCCATTCTCAGCAAAGCAGACCAGGAGACTTCTAACTGGGGGATGTTCAGAAAATGTCAGGGTAGCTGTGTGGCAGAACTCCAAGGAGCACTGTGCACAGAATACCATGGGAATGGGGCTCCCTGGCCTCGTTCCACACTGGGCCCCCAGTGAGTGTGGCATGCTAAGTCTAACCACTTCTTTAGGAGCCTCAAGTCAGAGGTGACAATACTGTAACATTGGTGAGGGCCTGCTACATTTCAAGACCTCTACCTAATACCTTAAACCCTGTTGCCCTGAAACTCCAGCTACAATTACATTGCTGTTGGAGAAACTGCTTTGCACAGTTCAAGATTTTGGTACAATTTCTTACAATGTCATCAGCAGCCTCTTGCTACAAGTTATGTCATAACTTTTACATACTTGTAATAGCTATTATGAATAGTTGTTACAGAACTATTACAAGTTCTAGCATAACAACCAAGCATCACACAGATGCAGATGAATTGTAACTGTGAAATAATGACTAGTATGCAGTCAGGCACATCAGTTATCCCCTAGTCTAGAAGAGTTTCAACAGGAATGGTCACAGGTCAGAGAAGAGGAACAAGGGTGGAAGGCAAGGGTAGCCTTTGGGCTTTATTTTTACCACCACTGCTAGCTCAATTATGCATAAATAATCTTACCTAGTTGGCATTTTTCAAGATATTAGAGAAAAGAACCACTTCTTTCTAGGAACTTCTGACCTAAAGGTAGGCATTGGTCTGGGCCTTGAATAAAAAACTGGTTACTTAGCAACCTGAGCCAGAATATAATTTCAGGAGAAAAGAATACTTCTGGTAAAAAAAAAATTCCTTATTGTTTGAATTATTAAAAACTGTATCATTACCCTTGGGAAATTCAGTTCACCTCTAAGAAAAAGCCAAACCAAAAAGCAAAAGAAACATGAAATATATTAGATATGCGTCCCGTGGAAATGCACACACATTGGAGAAATAGAACCAAATCATTCCCATTGATTTACATTTTTTCAGTGTTTTTCATCAACCATCATCAAAATCCTAAAACCAAACTTTGCAAGACATTTGGAGATGTCCTTGGCAGCACTACTACTACTTGTTAGCGCACCTACCTTCATTCATAGGATTGTGTCAGCAAAGGTTTTAACAACTATGAAAACCCCACCTGTATAGGAGAATACATTTTTTATGGATTTTTCTAGACATGATATATCCATGACTTGCCGAGTTTTGGATTAGCCTTTGTATTCATTTTCTATGGCTGCATAACAAATTACCACAAAACTAGGAGAGCAAAACAACACAAATTTATTATCTCACAGTTTCCATGGGTTGAGAGCCCAGTGTGAACTGGATTCTCAGCTCAGGGTTCCACAAGGCTGAAATCAAGGTGCTGGCCAGCTGCATCCTCATCAGGAGGCTCAACTAGGGAAAGATCTGCTTCCAAGGACCCTCAATGTGTTGGCAAAATTCATTCCTTTGTGGCCATATGACTAAACTCCTTACAGGAGAGTCTCTCTTCCAGTTCAAATTTCTTCTAATCTCTTTTAAGTACTCACTTGATTCGGTCAGGCCGACTCAAGTTAATCTCTCTTTTTATTAATTCAATGTCTGCTGATTAGGGACCTTAATTACATCTGCAAAATCTCTTCTGCGATATTACATAATATAATCATGTGAGTGATGCATAGCCCATCATATTTACAAGTCTTGTTCACGCTGAAAGAGGGCATAATACAGGGCATGAACACGAAGGGGTGGGAATATTGGAGGTCATCCTAGAATTCTGCCTACTTTTGCCCTTTACTCATTGCGTCCCTGTTTCTGTTGAGGAAAATACTCCATTTTCAAGACTGTTATAAGGCCTATATATGCACTTTTCATTCATTAAAGAAAAGTATCACCATG)$ MDVAESPERDPHSPEDEEQPQGLSDDDILRDSGSDQDLDGAGVRASDLEDEESAARGPSQEEEDNHSDEEDRASEPKSQDQDSEVNELSRGPTSSPCEEEGDEGEEDRTSDLRDEASSVTRELDEHELDYDEEVPEEPAPAVQEDEAEKAGAEDDEEKGEGTPREEGKAGVQSVGEKESLEAAKEKKKEDDDGEIDDGEIDDDDLEEGEVKDPSDRKVRPRPTCRFFMKGNCTWGMNCRFIHPGVNDKGNYSLITKADPFPPNGAPPLGPHPLMPANPWGGPVVDEILPPPPPEPPTESAWERGLRHAKEVLKKATIRKEQEPDFEEKRFTVTIGEDEREFDKENEVFRDWNSRIPRDVRDTVLEPYADPYYDYEIERFWRGGQYENFRVQYTETEPYHNYRERERERERENRQRERERERERDRERERRQRERERERERERDKERQRRKEEWERERAKRDEKDRQHRDRDREKEREKEKGKPKPRSPQPPr|YKSSLFPGNMETLTILNTSLMVVEASFYFQNDVKANTYFLEPNTMVLKPNEKQILNVWAYPTSVGVFEDSIVCCINDNPEPAIFQLSCQGIRPELELEPRQLHFDRLLLHRQESRVVLLRNVTLLPVAWRITSLEHLGDDFTVSLMQGTIPPEAEYGLHLYFQPTKPVNIKKAIRLEVLDAENLLGVVQIENIMVFAEAYDIALDITFPKGAEGGLDFGIVRVTEEAKQPLQLKNRGKYEIAFSFSVDSVGISTPNINSMISVQPKKGSLTPTEKPTNVQVFFHAKKEVKIEHQPVLRCQIIEPNISEGGEIIASIPIKFSANAVYSKYNITPSSVINFGALICGTRKSTTFTIENQGVTDFKFALYKLTGESPIHQKKAASHVRHARSRESESFYKTGSSRAAKFSDTIQKEVTTTGQARFAHGMFTVYPGFGSIPSGGQQVINVDCVADAMGKCEEFIAIDISGRDPAVHPAGILYTLLAEACLPAFVTENNALIFEEHQICTSANLHHILQTIESGGLFVEDENKFIFCNVLVGRQAKARFKISNVGKITCDVNIVVRPISNKPFARIVDIFEVEPSKMCIASHSHAFATVSFTPQIMQNYQCIFEATLDGLPSTLAKSRGLVFDIAGEGNLPRVTVVRPVLHNQYGNPLLLFKRLLLGHSEKLPLILKNNGVLPAQLHVDLQDELGVFSLKGRPTTAYIYITEENKPHVKAKKAHTASLVVSPGDTAEFDVVFHSQKVGRMRGIIHLSVINNQYEETSIHMVGEGYEDDITLDNIHGLVAPTSQEDISISEFTEIIEDNDMEDLVAAALVDHIQFGDCHIGHSYNASFTVTNHSQVNLIRFEWPVSATIAFSPQMGHLHPGCAKDIVVTMKSDVPINLKNMRIRCKLSRIMFQLPADQVPDWDDRMHTVKWVDVPRNMPGTFTTKRKVIETDPEPAHSVLEENYQELQLQISANVDFASYHCQARDVRFKETLVYQTRVFEFDVINSGRVQLEFSWVSEDTSKAVSFAKPDHQGSAQKDQLSQGTMHTGSTLDSTMDHWAEGSPQPFSVEPSSGIVPVGKIQKFKVKFSPLDIGDFESNLFCQIPNLPPGEQGPVLVAKGRSTLPICHFDLKDSDYISGHQRNPELRGSSGGALDPNTRVIEFTTVGIGGKNLRTFTILNPTNSTYSFCWISEEIESLQNPAAFTCLTEKGFIHPEKKAEIVFQFTPFHLGITESSWTFLIPEHNITVPFLLVGKTTEPLISLNKSHLNFSSLLIGREARETVQIINKEEQGFDFSFQDNSRYSEGFSNSLLVCPMEGWIPPLSRFPIDIFFTPKQEGDVNFNLICNVEKKVHPVTLNVKAEGYTMNVEIKCKDRTGSITLLTPNQTNIINFYEVELNECVQCEFNFINTGKFTFSFQAQLCGSKTLLQYLEFSPIDSTVDVGQSVHATLSFQPLKKCVLTDLELIIKISHGPTFMCNISGCAVSPAIHFSFTSYNFGTCFIYQAGMPPYKQTLVITNKEETPMSIDCLYTNTTHLEVNSRVDVVKPGNTLEIPITFYPRESINYQELIPFEINGLSQQTVEIKGKGTKMKILVLDPANRIVKLGAVLPGQVVKRTVSIMNNSLAQLTFNQSILFTIPELQEPKVLTLAPFHNITLKPKEVCKLEVIFAPKKRVPPFSEEVFMECMGLLRPLFLLSGCCQALEISLDQEHIPFGPVVYQTQATRRILMMNTGDVGARFKWDIKKFEPHFSISPEEGYITSGMEVSFEVTYHPTEVGKESLCKNILCYIQGGSPLSLTLSGVCVGPPAVKEVVNFTCQVRSKHTQTILLSNRTNQTWNLHPIFEGEHWEGPEFITLEAHQQNKPYEITYRPRTMNLENRKHQGTLFFPLPDGTGWLYALHGTSELPKAVANIYREVPCKTPYTELLPITNWLNKPQRFRVIVEILKPEKPDLSITMKGLDYIDVLSGSKKDYKLNFFSHKEGTYAAKVIFRNEVTNEFLYYNVSFRVIPSGIIKTIEMVTPVRQVASASIKLENPLPYSVTFSTECRMPDIALPSQFVVPANSEGTFSFEFQPLKAGETFGRLTLHNTDLGYYQYELYLKATPALPEKPVHFQTVLGSSQIILVKFINYTRQRTEYYCRTDCTDFHAEKLINAAPGGQGGTEASVEVLFEPSHLGETKGILILSSLAGGEYIIPLFGMALPPKPQGPFSIRAGYSIIIPFKNVFYHMVTFSIIVDNPAFTIRAGESVRPKKINNITVSFEGNPSGSKTPITTKLTVSCPPGEGSETGVKWVYYLKGITL* 20BR008 ENSG00000165029.16 ENSG00000261008.7 -/- -/- chr9:104883039 chr16:72570515 CDS/splice-site exon/splice-site translocation 0 2 0 14 5 medium out-of-frame . . . . ENSG00000165029.16 ENSG00000261008.7 ENST00000374736.8 ENST00000624829.4 upstream downstream . ^(GTAATTGCGAGCGAGAGTGAGTGGGGCCGGGACCCGCAGAGCCGAGCCGACCCTTCTCTCCCGGGCTGCGGCAGGGCAGGGCGGGGAGCTCCGCGCACCAACAGAGCCGGTTCTCAGGGCGCTTTGCTCCTTGTTTTTTCCCCGGTTCTGTTTTCTCCCCTTCTCCGGAAGGCTTGTCAAGGGGTAGGAGAAAGAGACGCAAACACAAAAGTGGAAAACAG___TTAATGACCAGCCACGGCGTCCCTGCTGTGAGCTCTGGCCGCTGCCTTCCAGGGCTCCCGAGCCACACGCTGGGGGTGCTGGCTGAGGGAACATGGCTTGTTGGCCTCAGCTGAGGTTGCTGCTGTGGAAGAACCTCACTTTCAGAAGAAGACAAACA___TGTCAGCTGCTGCTGGAAGTGGCCTGGCCTCTATTTATCTTCCTGATCCTGATCTCTGTTCGGCTGAGCTACCCACCCTATGAACAACATGAAT___GCCATTTTCCAAATAAAGCCATGCCCTCTGCAGGAACACTTCCTTGGGTTCAGGGGATTATCTGTAATGCCAACAACCCCTGTTTCCGTTACCCGACTCCTGGGGAGGCTCCCGGAGTTGTTGGAAACTTTAACAAATCCAT___TGTGGCTCGCCTGTTCTCAGATGCTCGGAGGCTTCTTTTATACAGCCAGAAAGACACCAGCATGAAGGACATGCGCAAAGT)TCTGAGAACATTACAGCAGATCAAGAAATCCAGCTCAA|AGGGGAAGGTATAAAATTTTCAAATGGAGGAGTATACCTGAACCTAATCATGGATGTGATTTTATGTAAGTAATATGTGAG(___ATACAGATAAGCTGATTCTAAAACTTACAAGAATGGCAAAGAAACAAGAAGAGCTTAAACTG___CAATCATCAACAGAGAAGCTTTCTGCAACCAAAG___TGAAGACTGAAGCCTTAGGCTATGGCAGAAGTTGGGCGCCTGAAGTACACGTGGAAATATGCCAACTGAACATTGGACTACCAC___GTCAAGGGTCTCCTACCCCTGGGCCATGGATCAATACCAGTCTGTGACCTGTTAGGAACCGGTAGCAGGAG___CGCCTGCCCCTGGCTCAGCGCCCGGTGCCAACAGAACACCTTTCAGGATCCACAGCAACGCAGACAAC___ATTTTAAAGCACCTGATGGATTTGGAAAATATTTAATGAAGACAATGATGCTGACATCTCAAGTTAAAAG___GTTCTACAGAGAAGGCAAAGATTTTGAAGGCACAGGAGACTATCATAGATATTCACAACGGCATCTCCCTAAAGGATTTGAAAGCTTTGCATCAACCAAAGGAAAAGCACCAGTGAGAGTCAAGATACAGTTCCAGACAG___ATGTAATTGGTTAAGATAAGATCATACTGGATGTGGATGGGTCCTAGATCTGACTGCTGATATCCTTATAAGAAGAAGAAAGGACACGCGGAGACTACAGTGATGTTGCCACAAGCCAAGAAATGCCAAGAATTTCGGGAGCCACCAGAAGATGGAAGAGGCAGGGAAAAATCCTCCCCTAAAGCCTTCAGAGAGAGCATAGCTCTGCCAACACCTTGATTCTGGACATCTAGCCTCTTAAACT___TCCTCAGGTGTCTCATTTCTTCTGTCTCAGAAGTCATGGATGTCAATGAAGATATGGAATTCACTTATTCATTCTTATAAATATTACTTAGTGTCCTTGTGCTTGGCACTGTGCTTGGTCATTGAGATCTACTGTTCAAAAGCAAGATAACATACAGG___CTGGAATAGCGAGATGCAAGAATCCCAAGCCTTCAAAGCCAGCTCCTGCAGAAGAGAGAGGGCCTGGCAGCTGAG___CTGGATGCTTCAGGAGCAGAGGATCTATCAACTGCAGACCAAGCACAGGGAGACGCAGGCAAACCTGGAACAGTAACCCAGCCAGCTCCAATTGCTCCGACAGTACTTGGTGGCCAGAGAGTCGGCAGCAGAAAGCATGCCCCGGGCCGTGAAGCAGGAAATCGACTCTGACTCAATCCTTGAGGTCTG___TATTACATCTGGGAGTACAACTTGAAGGGCCCCACACTCTTGTTTCTCAGCACCTCATAAATCTAAGCCCACGTGAAGTGAACAGAGCATCCCTTCTTCAAGAGAATGGAAAAAGAAAGGATGCTGAGGAGGAACTGTTGGGGGCAGAGCCCTTGAAGCCAGCTGGCAAGACTGAGACCACTGATCAATGCTTTGCCCACTGAAAGGACAACCTTATAAAGAATTGGAACCATTAAGCTTTAATTTTTAGAAATTTGGATGCTAGAGGGAATGGTCTTTAGGGACCGCTGCGGTCCCTAAACCCATCATCTGCTCTGGTGCCAGGATACAAATCTGTTCGCCCTGAATCCTTCATCTGCTTGGATGTCCAGGATACAATCTTTTCAGTTTGGGAACTTCTGACTGTTTTTCTCAGGTGTCTGCCTTGCTTCAATGCTTATATCTTGAACATTGTGTCTTTACGTGTCTGCCTTCGGCAGGTTTCATTAATTTGTAATTTATGCCTACAAAATTGTTTAAGCACTTCTGGATCTTACACTGGTCAAGGGTGTGTATTAGTGGGTGTGTGTGCACTATACAGACTGTGGGGCAGAATCTACTGGGTTTTGTTTTTCCTGATTTTAAAATGTTTAGTCATTCTGATCCATACGTGTGAGTTAATAAGTGTGTGTCTCTGTATCTTGGTGCAAGTGTCTGTACTCGGGAAGCAGTGAACACAAGCAGTTTAGAATAGTATTCCACATTTCTCTACCATTTGCATTAACTGTGTCTTTCCAAAATGCATATTCAGCTTCATTTTTTTTTTTTATTCAGAGGTGGTAGTTTTCAAACTCAAATCTAGCTCATTTGTCTCTTTTAGCACATGATTGAGGATTAGGGACTATTCTAACTGGCAGTCAAGGGTCAGTATTTTGGACTCCATTTGGCTTAGATAATTTATATAGAATAAAAGTCTAACAGGTATAATCACAATAGCCTTGGCTTAATAATTTTCCAAGCATACTTGAAGTTGAAAAACACTTCAAACTAAAATTGGAAGAATGTTCTGGTTAGTAAGTTGTATGCTTCTGTAATAATGGAGAGAATTGGAATGCAGTTCTCTTTGTTTGATTTATATGGCAACACCAAGAATGTGAGACGTGTGTTTTACTGTAGAAATAAACTTTCAACATTGACCTAGAGAACAGAAGACTCAGGTTGGTACTTAAATCCTGCTCTGCTAGGTTATAATGAAAAGCATCTTAATAAGAATAGATTTTTTAGGAAGAAAAATCTTAAGATTCATGTCTTTCTCTCATTGTTTGCAATATTTGTCAACATTTGCTTGCATGATTCCTACGAAGAACAAGCTTATTTGGAGAAAGTGATCTAAATTTTAGAATTGAATGTACTCCACTAATTAAATGTGTATGTCCTTGTGATCTTAG)$ MACWPQLRLLLWKNLTFRRRQTCQLLLEVAWPLFIFLILISVRLSYPPYEQHECHFPNKAMPSAGTLPWVQGIICNANNPCFRYPTPGEAPGVVGNFNKSIVARLFSDARRLLLYSQKDTSMKDMRKVLRTLQQIKKSSS|kgkv* 20BR008 ENSG00000254876.5 ENSG00000173077.16 +/+ +/- chr9:97251557 chr9:115324351 exon/splice-site intron inversion/3'-3' 2 0 0 0 4 medium . . . . . ENSG00000254876.5 ENSG00000173077.16 ENST00000375204.2 . downstream downstream low_entropy(1) ^(AAGCGCGCTAGTAGCAGCTCTGGCAGAAGCAACGGTGGCTTCGAGGGATGGCGGCGGCTGCAACAGGACCTGCAGCATCCCAGAG___GAACTGACTAAGGCTTTGGA)ACAGAAACCAGATGATGCACAATATTATCGTCAAAGAGCTTATTGTCACATTCTTCTTGGGAATTACTGTG___GTGCAGATGCTAATTTCAGTGACTGGATTAAAAGGTGTCGAAGCTCAGAATG___GCTCGGAATCTGAGGTG|TTGAAGAACCTGGAATTCAAAGAAGGTCCCACATGCAGTGAGTGATGAGC...CATCACCTTCACCACCAGGCTGTCTGCTCCCTCATCCATCCTGAAGGGTCTCCAATCACCAAAAAGACTCTATTCCTCCTATGCATATCAGCAACATTGAGCCAGGAAACTCTCCATAAACCCCACTTATTCAAGCCACACAATAGAC . 20BR008 ENSG00000046647.13(100743),ENSG00000233247.3(113746) ENSG00000103154.9 ./- +/+ chrX:14130636 chr16:83990494 intergenic CDS/splice-site translocation 2 0 0 3 1 medium . . |Antibiotic_biosynthesis_monooxygenase(100%) . . . ENSG00000103154.9 . ENST00000305202.8 upstream upstream . CACCCAAGGATTGGAGAATGGAGAAGCAAGAGCAGGAAAGAAGAGAG___ACAATATGAGGCAAGAGACAAACAGGGAGAAGACAGAGGCAGAGTTTGGAATGTTGCTGCTACAAGCCAAGGAATACCTGGGGCCACCAGAAGCTGGAAAAG___GTCTGGCTTCATTCTCTACATGGTCTGATTCCAGAGGACAGGAGGAACACTCTAAGAGGTGCCCATGATGCCCCATCGCTGACTGAG|GTATATGAGGGTGGGAGCAACGTGGACCAGTTTGTGACCCGCTTCCTCCTGAAGGAGACGGCCAATCAGATCCAGTCGCcGC(TGAGCTCAGTGGAGAGTGCGGTGGAGGCCATCGAGGAACAGACCAGCCAGCTCCG___ACAGAACCACATCAAACCCAGCCACAGCGCGGCACAGACCTGGTGTGGAAGCCCCACTCCCGCCTCTGCCCCCAACCACAAGCTCATGGCTATGGAACAAGGCAAGACCCTTCCATCTG___CCACGGAGGATGCAAAGGAAGAGGGTCTGGAAGCCCAGATCAGCCGCTTGGCAGAGCTGATTGGGAGGCTGGAGAGCAAA___GCACTGTGGTTCGACCTGCAGCAGCGCCTGTCAGATGAAGATGGCACCAACATG___CACCTGCAGCTGGTCCGGCAGGAGATGGCCGTGTGCCCCGAGCAACTGAGCGAGTTTCTGGACTCTCTGCGCCAGTATCTGCGGGGGACCACTGGCGTGAGGAACTGCTTCCA___CATCACTGCCGTGAGGCTCTCAGATGGCTTCACCTTTGTCATCTATGAGTTCTGGGAGACAGAGGAGGCGTGGAAGAG___GCACCTGCAGAGCCCCCTGTGTAAGGCGTTCCGGCACGTCAAGGTGGACACACTGAGCCAGCCTGAGGCCCTCTCCAGGATCTTGGTGCCAG___CTGCTTGGTGCACGGTGGGACGGGACTGACAGCCTCCCAGAGGCCCGTGGAGGAGCCCACCAGCCCCTTCTTCTTGTGAAGGAAATCCCGTTTTTTTCTAGACAGACACTTTGGTGCAGAAGCTTCTTTTCAATCCATCCTCCACAAGAAGGTGTTTCCCTGTTGTTAAGTGAAGGAGGCCGCCCCTGCCCCCACCTGAGAAGGCAGAGCAGTGTCTGTGCTGCCAGGTCCTGGTGAAGCCCAAGGTTGAAGGGGGCGGCTTCCTGGAGCCAGCACCCCTGCCTCCTGGTCCTGGCCTCTCCCCTACCCCTCACATGGCCACGCATGACCCACACTGACCACACCCTGCCCTCTTCGGTGACATTCTTCTACCTAGTAGGAGTCATGCCCCTGTAGTGCCCAACCTAGCCAGGTAGCCACCACTGTGCCCAGGCGCCAAATAAACCCTGGTTGGGAAGA)$ . 20BR008 ENSG00000066697.14 ENSG00000140993.11 +/+ -/+ chr9:100427393 chr16:3299106 5'UTR/splice-site CDS translocation/5'-5' 0 2 0 1 164 medium . . . . . ENSG00000066697.14 ENSG00000140993.11 ENST00000395067.6 . downstream upstream duplicates(1) ^(ACGGACCGGCAGGCGGCGGGCGGTCCGCGAGGGGGCGGCGGCGTCCGGGCTTTGTGGCCGCGGCGCGCGCGGCGGGGCCTGGCCGGCCGGGGGCGCGCCGCCGCCGCCGCCGCCGCCCGGCGTTCGGGAGCCCGCGGCCCTCCCGGCCGCCCTGCTTGCGAGAGGAGCCCAGGCCGCCCGCCCTCGCGCCTCGCCGGCCCCTCCCCCGGTCGC)CGCGGCTGCCGCGCCGCCGCTGCAG|TGTGAAGTGGAATCTCTGAAACTCAGGTGTGGCATCAACAAAGTCAAGAAG___ATACAACAGCCTCAGTCAGGAATGACAGGAATACCTGCATACTTTCCCTAACTCAATACCGGAAAACGGACAATATGAAGAGAGGAGGGATGGAGCAAGATGTGCCCACAAGACAGGTGTGATAAGTTTCCATAAAAACTGATGCTTCAGAAGAAGGGAGCGTGAAAGACTCAAAGGCAATGACAGAGTAATCTTGTGTGTAGCAGAGATGCAATGTGGCTTCTCCCCTTCCAAAAAGAC . 20BR008 ENSG00000165209.19 ENSG00000229338.1(36419),ENSG00000270412.1(14981) -/- ./+ chr9:123158012 chr9:98928356 CDS/splice-site intergenic inversion 2 0 0 72 4 medium out-of-frame . DZF_domain(100%)| . . ENSG00000165209.19 . ENST00000348403.10 . upstream upstream duplicates(1) ^(GAAGCGGAGACCGGAGCCGCGAGCGCCACCAGGGCAGCAGCCGCCGCAGCCGCCGCCGCTGGGCAGAGGAGCCGGAGACGCGAGCGGGCGAGGTGGCGGCGGCGGCGGAGCGGGAGCGGGTACCGGGCGCGGGCAGAGCGCGGCGGCGCGG___AGACGGGGTTTTGCCATGTTGACCTGGCTGGTCTCGAACTCCTGAACGCAAGTGATCCGCCTGCCTCAGCCTCCCAAGGTGCTGGGATTACAGGCACGAGCCACTGTGCCTGGCCTCAACTGTTGCTTCTTATAAAG___GTGTGTTCCAGAGAACAAGCCTTCAGACATTTGCTATATTGACGCTGAGCTGTCAGGGGACTCAGGCTTATGAGGAGGTATTGTTACACAAAACAGTGTCTAGTGAAGACGACAAGAAAGAGGGGAAAGGATCGGAAAAAGAAGCTAAAATACTATAGAAAACCATG___AGATCTATTCGATCTTTTGCTAATGATGATCGCCATGTTATGGTGAAACATTCAACAATCTATCCATCTCCGGAGGAACTTGAAGCTGTTCAGAATATGGTATCTACTGTTGAATGTGCTCTTAAACATGTCTCAGATTGGTTGGATGAAACAAATAAAGGCACAAAAACAGAGGGTGAGACAGAAGTGAAGAAAGATGAGGCCGGAGAAAACTATTCCAA___GGATCAAGGTGGTCGGACATTGTGTGGTGTAATGAGGATTGGCCTGGTTGCAAAAGGCTTGCTGATTAAAGATGATATGGACTTGGAGCTGGTTTTAATGTGCAAAGACAAACCCACAGAGACCCTGTTAAATACAGTCAAAGATAATCTTCCTATTCAGATTCAG___AAACTCACAGAAGAGAAATATCAAGTGGAACAATGTGTAAATGAGGCATCTATTATAATTCGGAATACAAAAGAGCCCACGCTAACTTTGAAGGTGATACTTACCTCACCTCTAATTAGGGACGAATTGGAGAAGAAGGATGGAG___AAAATGTTTCGATGAAAGATCCTCCGGACTTATTGGACAGGCAGAAATGCCTGAACGCCTTGGCGTCTCTTCGACATGCCAAATGGTTTCAG___GCAAGGGCAAATGGATTAAAATCATGTGTAATTGTCCTCCGCATTCTGCGTGATTTGTGCAACAGAGTCCCCACATGGGCACCATTGAAAGGATGG___CCACTAGAACTTATATGTGAAAAGTCTATAGGTACTTGTAATAGACCTTTGGGCGCTGGGGAGGCCTTGAGACGAGTAATGGAGTGTTTGGCATCTGGAATACTACTTCCTG___GGGGTCCTGGTCTTCATGATCCTTGTGAGCGAGACCCAACAGATGCTCTGAGCTATATGACCATCCAGCAAAA)AGAAGATATTACCCACAGTGCACAG___CATGCACTCAGACTATCAGCCTTTGGCCAGATTTACAAAGTGCTGGAGATGGACCCCCTTCCATCTAGTAAGCCTTTTCAGAAGTATTCCTGGTCAGTTACTGATAAAGAAG|GACTTTGACTCCAAAGCATGTCTGGGACCCTGCACATCTAACTCCTACCTATGTCGCTGGTGGAACTTATGCTCTTAACAAG MRSIRSFANDDRHVMVKHSTIYPSPEELEAVQNMVSTVECALKHVSDWLDETNKGTKTEGETEVKKDEAGENYSKDQGGRTLCGVMRIGLVAKGLLIKDDMDLELVLMCKDKPTETLLNTVKDNLPIQIQKLTEEKYQVEQCVNEASIIIRNTKEPTLTLKVILTSPLIRDELEKKDGENVSMKDPPDLLDRQKCLNALASLRHAKWFQARANGLKSCVIVLRILRDLCNRVPTWAPLKGWPLELICEKSIGTCNRPLGAGEALRRVMECLASGILLPGGPGLHDPCERDPTDALSYMTIQQKEDITHSAQHALRLSAFGQIYKVLEMDPLPSSKPFQKYSWSVTDKE|gl* 20BR008 ENSG00000144161.13 ENSG00000186716.21 -/- +/+ chr2:112230195 chr22:23292542 intron CDS/splice-site translocation 2 0 0 3 94 medium . . RNA-binding__Nab2-type_zinc_finger(100%),Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%)|C2_domain(99%),RhoGAP_domain(100%) . . ENSG00000144161.13 ENSG00000186716.21 . ENST00000305877.13 upstream upstream . CCACAGTATGTGCCAAGGAGTAGAATCATATCATCATAAAATTTAATATAATATCAGTTTTTTTCTCAAGTAGTTATACCAGTTTATACTCCTACAAACTGTGTAGAAGAACTGTCATTCTACACTTGCCAGTACTTTATATTGTCAATACTTTAATTTCAACCA|TCTGTACTGCACCCTGGAGGTGGATTCCTTTGGGTATTTTGTGAATAAAGCAAAGACGCGCGTCTACAGGGACACAGCTGAGCCAAACTGGAACGAG___GAATTTGAGAT(AGAGCTGGAGGGCTCCCAGACCCTGAGGATACTGTGCTATGAAAAGTGTTACAACAAGACGAAGATCCCCAAGGAGGACGGCGAGAGCACGGACAGACTCATGGGGAAGGGCCAGGTCCAG___CTGGACCCGCAGGCCCTGCAGGACAGAGACTGGCAGCGCACCGTCATCGCCATGAATGGG___ATCGAAGTAAAGCTCTCGGTCAAGTTCAACAGCAGGGAGTTCAGCTTGAAGAGGATGCCGTCCCGAAAACAGACAGGGGTCTTCGGAGTCAAGATTGCTGTGGTCACCAA___GAGAGAGAGGTCCAAGGTGCCCTACATCGTGCGCCAGTGCGTGGAGGAGATCGAGCGCCGAGGCATGGAGGAGGTGGGCATCTACCGCGTGTCCGGTGTGGCCACGGACATCCAGGCACTGAAGGCAGCCTTCGACGTCA___ATAACAAGGACGTGTCGGTGATGATGAGCGAGATGGACGTGAACGCCATCGCAGGCACGCTGAAGCTGTACTTCCGTGAGCTGCCCGAGCCCCTCTTCACTGACGAGTTCTACCCCAACTTCGCAGAGGGCATCG___CTCTTTCAGACCCGGTTGCAAAGGAGAGCTGCATGCTCAACCTGCTGCTGTCCCTGCCGGAGGCCAACCTGCTCACCTTCCTTTTCCTTCTGGACCACCTGAAAAG___GGTGGCAGAGAAGGAGGCAGTCAATAAGATGTCCCTGCACAACCTCGCCACGGTCTTTGGCCCCACGCTGCTCCGGCCCTCCGAGAAGGAGAGCAAGCTCCCTGCCAACCCCAGCCAGCCTATCACCATGACTGACAGCTGGTCCTTGGAGGTCATGTCCCAG___GTCCAGGTGCTGCTGTACTTCCTGCAGCTGGAGGCCATCCCTGCCCCGGACAGCAAGAGACAGAGCATCCTGTTCTCCACCGAAGTCTAAAGGTCCCAGTCCATCTCCTGGAGGCGGACAGATGGCCTGGAAACCTCTGGCTAATCGGGCCATCCGTAGAGCGGGAACCTTCCTGAGGTGTCCTTGGGCCACCCCCAAGTGTTGGGCCATCTGCCAAGAGACAGCGACCCAAAGCCGAAGGACAGGTGGCCTGGAAAGATCCCGCCCAGGTCTGGGAGCCCCAGGCTGGCCTCAGACTGTGGTTTTTTATGTGGCCACCTGAGGGCGCCCCAAGCCAGTTCATCTCGGAGTCCAGGCCTGGCCCTGGGAGACAGGGTGAAGGGAGTGGTTTTTATGAACTTAACTTAGAGTCTAAAAGATTTCTACTGGATCACTTGTCAAGATGCGCCCTCTCTGGGGAGAAGGGAACGTGACTGGATTCCCTCACTGTTGTATCTTGAATAAACGCTGCTGCTTCATCCTGTGGGGGCCGTGGCCCTGTCCCTGTGTGGGTGGGGCCTCTTCCATTTCCCTGACTTAGAAACCACACTCCACTTCTAACAGGGTTTGAGAGGCTTAGTCAGCACTGGGTAGCGTTTTGACTCCATTCTTGGCTTTCTTTTTCTTTCCAGAAGGATTTTTGTGCAGAAATGGGTCTTTTGTTGCCATGTTAGTCCTCCTTGGAAGGCAGCTCAGAAGGCCTGTGAAATGTCAGGGGACAGGACCCCCAGGGAGGGAACCCCAGGCTACGCACTTTAGGGTTCGTTCTCCAGGGAGAGCGACCTCGTCCCCCGATCCTGACCGCCCTTCCGGCCCACGCTCTCCTGTTTGGCTTCCACAGGCCTGGACTTCTCTGGCTTCTCTGCCCACACACTCCCTGCCCCCAGTGTCCCTGCCCCTGCCCCAGCACAGGTGACTTCATTTCTGTCCTCTCAGCTCAGTGGACTCGCTCAACTTTTGTATAAGTCTCCACTTGGTGGCAGCAGCTTGCTGATGACTTGTTTTAAAACTTTCATCCTAAATAACCTTTTGATACTTGAATATTTGTAAGTTTTATACATAGTTTCTAATTTTTTTCCGAACAGATCCAGATACCTAATAAGATGCTGGAATGTAATCCCTGGACAATCCGTGTCCTGGCAGCATTTGGTCTTCCTCTAAGCGCCTGGCTCCGCTGTTCTCAGGAGTGGGTTCTGAAGTCTCTGGAGAACAGGATACGTGGAGGGTTAGGAAGGGGCCAGGCCTAGAGACGGGAGACTCCCTCCCGGAGCAGGTGGAGGCACAGGACCATTCGCTACCCCATCTGCCGACACCTGCGGGGGAGCCCAGGCATTCTTTGTAAACCCTCCTGACCACCTGGCTCAAAGAAAACAGAAGCATGGAGACCGCCAAGTATTTTCAAGAAATAACCCCATGAATATTCCATCACTTTTTTAGAAAGAGGGGCTTGGGGCAGGCAGAGGAGAGAAGGGAGAGCAAACTGAGAGCCAAGTTTCCACACGGTCCTGCAGGAGGAGAGGATGCAGCTGCCCAGAGGGAAGCAGGATCACATTTAAGGAAGTGTGTGGGGTCCCTGGATGACACCAGCACCCAGTGCGGCTCTGTCTGGCACCCGCTCCCAAGGTGGGAGGAGTGGGTGTCCCCTGTGTGTCAGTGGGCAGCTCCTGCTGAACCCGCAGCTCACTAGGGAGCCTGACAGTGGGGCCATGCGCCTGACACTCCTCTCTGCTTGTGGACCTGGCAAGGCAGGGAGCAGAAAACAGCCACTTGAAGGCTTTCTGTCTGCGTCTGTGTGCAGTGTGGATTTAGTTGTGCTTTTTTCTTGCTGGGAGAGCACAGCCACCATTTACAAGCAGTGTCACCGTCGTGGGTGGCGAGGACAGAACAGGAGCCTCTGCTCTCTGTACCTATCTGGGCCCGGTGGGCTCCCTTGTCCTGGCTTCCATCTCTGTCTCAGCGACCATTCAGCCCTGCGCAGGAACACGTGTTGCTTAGAAAAGCCAAATCCAGCCTTGTCTCTGCCTCCTCTGGTCTCATGATGTGCATCTGTTACCTTGAAACTGGAAACCAGTCTATCAATGTCTGTGCCAATTTTTTATTCCCTCCCCAACCTCCTTCCCCATACGACTTTTTATTTATGTAGGATGTGTGCTGTCTAATGATGGGATGACCACACTTTTCCATGTTCTAAAAGTGCTCCTCTCCCGCAGGGTCCCAGGGCTGGTGGTTGCTTTGGGTCTACAGCTACGTCTTACCCACCTCCTGCCTCAACAGCCTGTGTGGTGGCAAAGCCGGTGTGGGGCTGGGGAACGCAGCGTTCTCCAGGAGGGGGACCTGGCTCTCCTTCTGCAATGCAGGCGAAGGCCTAGATGCCAGTGTGACCTCCCACAAGGCGTGGCTTCCAGACTCCCCGGCCGGAAGTGATGCTTTTTTGCCTTGGGCCCTGGGTTTGAAGCAGCCTGGCTTTCTCTTGGTAAGTGGCTGGTGTCTTAGCAGCTGCAATCTGAGCTCAGCCACCTACACACCACCGTGGCCGACACTTTCATTAAAAAGTTTCCTGAGACGA)$ . 20BR008 ENSG00000259283.2 ENSG00000260876.6 -/- +/- chr16:55282538 chr16:79689150 exon/splice-site intron duplication/5'-5' 2 0 0 4 5 medium . . . . . ENSG00000259283.2 ENSG00000260876.6 ENST00000558730.2 . upstream downstream duplicates(1) ^(GCAGTAAGATGCTGTCTATGAACCGGGAAGCAGACCCTCACCAGATGCTGAACGTGCTGGCACCGTGGACTTCTCAGCCTCCAGAAAT___GCAGATGACAAGACCCAAGGAGATGGAGG)AGCCACACAACTGAAAGAGATGAGGTTCCTGAATCACCACATGGAGGGAAGCGGCCACTGATTAGAAACATCTGCCTGTTTCATAAGGATAAGTAAAG|AGACAGAAACTAAAATCCGTGGCTTCAGGCTGCTAAAAGCCGAAAACAAAACAAAACAGAACAACAAC . 20BR008 ENSG00000102935.11 ENSG00000180747.15 -/- -/- chr16:49855735 chr16:21449698 5'UTR/splice-site exon/splice-site deletion 0 2 0 0 123 medium . . . . . ENSG00000102935.11 ENSG00000180747.15 ENST00000563137.6 ENST00000522480.5 upstream downstream . ^(TTTTTTTTTTTTTTTTTTTTTTGCATAACTCGGCTCGGCCGAGTGGCCTCCGGACTCCCCGCGCCGCTGGGACCGCCGCTTGGATCGGGAGCCCCGGACTGCCGCATTGCAACAGGCAGGGCCCCGGCGCGCCCCCCGGGCCTCCCCCCGCCTTCGAGCGGCCTCGGCCGGCCCGGGCTGCCCCCCCAAGGGAGGCCGCCCCGGACCTGCGGTCCGCTCCCCACAGCCGCCAACCGGGCTGCAAAAAAAAAAGTTTCCAAGAGACAGGCGGAGGAGAAGGGGGAGAAGGGCTGCCCGGAGCGGCGGGGGGCGGCGGGGGGAGCCGGCTGCGGAGGGCGACGGAGCGCCCGGAGCCCCGGACATGTCCAGGCGGAAGC)AGGCGAAGCCGCGCTCGGTGAAAG|ATCATTAAGCAGCTTTGAGTCTGGAAAATTTGTCGAATGTACCGAGCAATTAGAATTGTTACCAGGAGAAAATATCAATCTACTTGCTGGAGGATCAAAAGAAAAAATAG___ACATGAAAAAACTGCTTCGTAACATGTGAAGTCCAGATCCAAGGGAACCTCAGAAATCCATTGAAGTTCCATTGTTAAGAAGTTCTGTTTGTTTGGCAACTGCTTTAAACCCGATAGAACAAGATCAGAAGTGGCAGTCTATAACTGA___AAATGTG(GTAAAGTACTTGAAGCAAACATCCCGCATCGCTATTGGACCTCTGAGACTTTCTACTTTAACAGTTTCACAGTCTTTGCCAGTTCTAAGTACCTTGCAGCTGTATTGCTCGTCTGCTTTGGAGACCACAGTTTCTAACAGACTTTCAACAGAG___GACTGTCTTATTCCACTCTTCGGCGAAGCTTTACGTTCATGTAAACAGCATGACGTGAGGCCGTGGATGCAGGCATTAAGGTATACTGTGTACCAGAATCAGTTGTTGGAGAAAATTAAA)$ . 20BR008 ENSG00000102935.11(1340),ENSG00000279842.1(40760) ENSG00000180747.15 ./- -/- chr16:49859259 chr16:21449698 intergenic exon/splice-site deletion 0 2 0 0 123 medium . . . . . . ENSG00000180747.15 . ENST00000522480.5 upstream downstream . GGGAAACGGACATACGTGCAGGCGACGCGTGGGAGGGGGCCCGGAAAACTTTGTGAGCGGCTCCAGGATCTCGTCCTTTCGGATTAG|ATCATTAAGCAGCTTTGAGTCTGGAAAATTTGTCGAATGTACCGAGCAATTAGAATTGTTACCAGGAGAAAAT?TCAATCTACTTGCTGGAGGATCAAAAGAAAAAATAG___ACATGAAAAAACTGCTTCGTAACATGTGAAGTCCAGATCCAAG(GGAACCTCAGAAATCCATTGAAGTTCCATTGTTAAGAAGTTCTGTTTGTTTGGCAACTGCTTTAAACCCGATAGAACAAGATCAGAAGTGGCAGTCTATAACTGA___AAATGTGGTAAAGTACTTGAAGCAAACATCCCGCATCGCTATTGGACCTCTGAGACTTTCTACTTTAACAGTTTCACAGTCTTTGCCAGTTCTAAGTACCTTGCAGCTGTATTGCTCGTCTGCTTTGGAGACCACAGTTTCTAACAGACTTTCAACAGAG___GACTGTCTTATTCCACTCTTCGGCGAAGCTTTACGTTCATGTAAACAGCATGACGTGAGGCCGTGGATGCAGGCATTAAGGTATACTGTGTACCAGAATCAGTTGTTGGAGAAAATTAAA)$ . 20BR008 ENSG00000102974.16 ENSG00000081377.17 +/+ -/+ chr16:67571264 chr9:96603732 5'UTR/splice-site intron translocation/5'-5' 0 2 0 50 15 medium . . . . . ENSG00000102974.16 ENSG00000081377.17 ENST00000646076.1 . downstream upstream . ^(CCCGGCCGGTCCCCCCACCCGTCCCTTCCCTTATCAGCACCCGCGGCCCCGGCAGCGCCGACGCAGGCGCACTGCACCGCGCCGCCGCCATTTTGTGTCTGAGCCTGTGGAGCGATTAAACCGTGCGCGGAGCTGCTTCTTTGGCGGCAGCGGCGGCGGCGGTGGCCGGTGCGGACGCGCGGAGCTCGCCGGAGACGCCGGGTGGCCGGAGCCGTGGAGCGGCGGCGGAGCGGGCGCCGCGGGGGGTGTGGCGCGGAG___AATGATTACGGACCTGAAGCCAAAGAACAAGATGCGCTAGTGGACAGATTGCTGACCAGGGGCTTGAGAGCTGGG)TTCTATTTTCCCTCCTCAAACTGACTTTGCAGCCACGGAGAG|TAAGAACAGACTGAATTACCTCTGAAGAAAAAATGAAAAGACACTGCGCAAGATTTTAATAAAGAGAGGAAAGCATCCAAAAAG___GGCTTTCTCTGGCCTAAAGAGTCCATTTTGCCTACTGTCATAGGACTTGAAAATGATCATTCCCCACTCCCCAGCAAGACACAAGCAGGG___GGAATCTTTCTAAAGAGAAACTCTAACATTTATCCCAAGGCAGAAAAGATGATCACCACGGCACC . 20BR008 ENSG00000173611.18 ENSG00000288546.1 -/- -/- chr9:124999906 chrX:23010305 CDS intron translocation 1 1 0 13 5 medium out-of-frame . Protein_SCAI_(98%)| . . ENSG00000173611.18 ENSG00000288546.1 ENST00000336505.11 . upstream downstream . ^(GCCTCTCCGCCTACTCCAGCCTCCGCCGCCTCAGCTTCCCGAGCGAGCCCTGCGGCCGCCGGAGCAGCTCCCGCGGCGGAGCAGGAGCCGGATGGTCAGAGGAGCCCGGCAGCCCCAGCAGCCGCGGAGTCGCCTGGCCCCCAG___ACTGACTGGCACAGTGGAGAAACCGCCTCGAAAACGGAGAAGCAG___GACTGAATTTGCTCTTAAAGAAATCATGTCCTCTGGAGGTGCTGAAGATGATATCCCACAGGGAGAGAGGAAAACAGTTACAGATTTTTGTTATCTTCTGGATAAATCTAAGCAACTGTTCAATGGGTTAAG___AGATTTGCCACAATATGGACAGAAGCAGTGGCAGTCCTATTTTGGAAGAACTTTTGATGTTTACACCAAACTCTGGAAGTTCCAGCAGCAGCATCG___ACAAGTCTTGGATAATCGGTATGGCTTGAAGCGCTGGCAAATAGGAGAAATTGCTTCCAAGATTGGGCAGCTATACTATCATTATTA___CTTACGCACATCGGAAACCAGCTATCTGAATGAGGCTTTTTCCTTCTATTCTGCAATCAGACAGAGATCATATTATTCTCAAGTCAATAAAGAGGACAG___ACCTGAATTGGTAGTTAAGAAGTTACGATATTATGCAAGATTTATAGTAGTTTGTCTTCTTCTCAACAAAATGGATGTTGTAAAGGATCTGGTAAAG___GAATTGTCAGATGAAATTGAAGATTATACTCACCGATTTAATACTGAAGATCAAGTGGAATGGAACTTGGTGCTTCAAGAAGTAGCAGCTTTCATTGAG___GCGGATCCTGTAATGGTATTAAATGATGATAATACCATTGTTATCACATCGAATCGCCTTGCTGAAACAGGAGCCCCATTGCTGGAACAGGGCATGATTGTGGGACAGTTGTCTCTGGCTGACGCACTCATTATTGGTAATTGTAATAATCAG___GTTAAGTTCAGTGAACTAACTGTTGACATGTTCCGGATGTTACAAGCTCTGGAAAGGGAGCCAATGAATTTAGCTTCCCAGATGAATAAACCAGGAATGCAG___GAATCAGCTGACAAGCCTACTAGACGAGAAAACCCCCACAAGTATCTGCTCTACAAACCAACCTTCAGCCAGCTATATACCTTCTTAGCAGCGTCTTTTAAG___GAGCTGCCTGCCAATAGCGTGCTTCTGATTTACCTGTCGGCCACTGGCGTTTTCCCCACAGGTCGTTCTGATAGTGAAG___GTCCTTATGATTTTGGAGGTGTACTTACTAAT)AGTAACCGGGATATTATTAATGGAGATGCCATCCACAAACGAAATCAGTCCCA|GCCTGGGCGACAGAGTGAGACTCCATCTCAAAAACAAAACCATCTATAATCCCATAATGTAGAAAACCATGGTTAGTGTGTGTGTCTATGTGTGTCCATTTCATTTGCTTTTGTTTATATAGATATATGGACCAATGTAGTTTTCTAAAAACAATCGAGATCA MVRGARQPQQPRSRLAPRLTGTVEKPPRKRRSRTEFALKEIMSSGGAEDDIPQGERKTVTDFCYLLDKSKQLFNGLRDLPQYGQKQWQSYFGRTFDVYTKLWKFQQQHRQVLDNRYGLKRWQIGEIASKIGQLYYHYYLRTSETSYLNEAFSFYSAIRQRSYYSQVNKEDRPELVVKKLRYYARFIVVCLLLNKMDVVKDLVKELSDEIEDYTHRFNTEDQVEWNLVLQEVAAFIEADPVMVLNDDNTIVITSNRLAETGAPLLEQGMIVGQLSLADALIIGNCNNQVKFSELTVDMFRMLQALEREPMNLASQMNKPGMQESADKPTRRENPHKYLLYKPTFSQLYTFLAASFKELPANSVLLIYLSATGVFPTGRSDSEGPYDFGGVLTNSNRDIINGDAIHKRNQSq|pgrqsetpsqkqnhl* 20BR008 ENSG00000135148.12 ENSG00000287138.1(60408),ENSG00000229700.1(87833) +/+ ./- chr12:112130569 chr6:19954622 CDS/splice-site intergenic translocation 2 0 0 103 0 medium out-of-frame . . . . ENSG00000135148.12 . ENST00000412615.7 . downstream downstream . ^(AGAGGAG)GCTCCGTGTCTGCAGCTAGTGTGTCAACTCAGCGTTTCTCCTCTCGTCCCTG___GAAGAGCTAAAGATGGCTGAATTTCTAGATGACCAGGAAACTCGACTGTGTGACAACTG|GTTTGGATTGATTAGACGGGCAAAGAAGACTAAGAAGAGGTACCC MAEFLDDQETRLCDNw|fglirrakktkkry 21BR001 ENSG00000131473.17 ENSG00000159640.16 -/- +/+ chr17:41918880 chr17:63496798 5'UTR/splice-site CDS/splice-site inversion 57 176 0 189 550 high . . |Angiotensin-converting_enzyme(100%) . . ENSG00000131473.17 ENSG00000159640.16 ENST00000393896.6 ENST00000290866.10 upstream upstream duplicates(40),mismatches(1) ^GCGAGCCGATGGGGGCGGGGAAAAGTCCGGCTGGGCCGGGACAAAAGCCGGATCCCGGGAAGCTACCGGCTGCTGGGGTGCTCCGGATTTTGCGGGGTTCGTCGGGCCTGTGGAAGAAGCGCCGCGCACGGACTTCGGCAGAG|GACCGCCATGAAGCTGGGCTTCAGTAGGCCGTGGCCGGAAGCCATGCAGCTGATCACGGGCCAGCCCAACATGAGCGCCTCGGCCATGTTGAGCTACTTCAAGCCGCTGCTGGACTGGCTCCGCACGGAGAACGAGCTGCATGGGGAGAAGCTGGGCTGGCCGCAGTACAACTGGACGCCGAACTCCG___CTCGCTCAGAAGGGCCCCTCCCAGACAGCGGCCGCGTCAGCTTCCTGGGCCTGGACCTGGATGCGCAG(CAGGCCCGCGTGGGCCAGTGGCTGCTGCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGCGGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGAGCTGAGACACTCCTGAGGTGACCCGGCTGGGTCGGCCCTGCCCAAGGGCCTCCCACCAGAGACTGGGATGGGAACACTGGTGGGCAGCTGAGGACACACCCCACACCCCAGCCCACCCTGCTCCTCCTGCCCTGTCCCTGTCCCCCTCCCCTCCCAGTCCTCCAGACCACCAGCCGCCCCAGCCCCTTCTCCCAGCACACGGCTGCCTGACACTGAGCCCCACCTCTCCAAGTCTCTCTGTGAATACAATTAAAGGTCCTGCCCTCCCCATCTGAGTCTGTGTCCCTCACAGGGAAGCCAGGGACAGGGACAGGCTGCTTTCCTGCCTCCTGGCAGTCAAGTGGGTCCCGTTACTAGGTTTGTTCCTCCATCCTCCTTCAGGAGCCGGGGAGGATCCCCAGAGCTCTGCCCCAGCACCTCCTGGCGCTGGCGCCTGTCTTCCCTCCAGCCCAGGCAGCCCGCCACTGTCCTGCCACCGCAGGCAGCCCCTGTCTGGCCCAAGCACTGACCCACGCGGACTCTGGGAAGCAGACATCCTGGGCTGCTGGCCTCACATTTCCACTGGCAGTGGAGCCTTTCCCTGCTCCACAAATGGCCAGGTCCCCCCAGGGGAAGGCTTCCGGCTGTTATCGGCTGCCTCAGGGGGCGAGTACCTTGGAGGGCCTGCTTCAAGGAGGGTGCCCCCTGGAGGGCACACACCAGCCTAGTGCTTACCTTGGCTCCTGCCTGTACCAGCTCCATGACTCTGCTCGGGTGAACAGCCTTGGCTCTCAGACAGCCATTCTAACACTGCCAGTGCAGAGGGGCCTCAGACGCTGGAGTGTAGCAGTGGCTGCACCTGCACAGGGATTAGCTGCCAGCAGCCACCCTGCTGGCGTCCCAGCACACACCTCCTCACTCCCTGCATTGGAGGGAGTGTCATTTTAAGGGACATTTTTATGACTTTTATGTGTATGTTTATGTAGAAATTTGGAAAATACAGAAAACTGTAAAGAAAATAAAAGCCCTTTATATCAACGTCAA)$ . 21BR001 ENSG00000131473.17 ENSG00000264813.6 -/- +/+ chr17:41918880 chr17:63496798 5'UTR/splice-site CDS/splice-site inversion 57 160 0 189 550 high . . . . . ENSG00000131473.17 ENSG00000264813.6 ENST00000393896.6 ENST00000577647.2 upstream upstream duplicates(38),mismatches(1) ^GCGAGCCGATGGGGGCGGGGAAAAGTCCGGCTGGGCCGGGACAAAAGCCGGATCCCGGGAAGCTACCGGCTGCTGGGGTGCTCCGGATTTTGCGGGGTTCGTCGGGCCTGTGGAAGAAGCGCCGCGCACGGACTTCGGCAGAG|GACCGCCATGAAGCTGGGCTTCAGTAGGCCGTGGCCGGAAGCCATGCAGCTGATCACGGGCCAGCCCAACATGAGCGCCTCGGCCATGTTGAGCTACTTCAAGCCGCTGCTGGACTGGCTCCGCACGGAGAACGAGCTGCATGGGGAGAAGCTGGGCTGGCCGCAGTACAACTGGACGCCGAACTCCG(___ATGACTTCTACAATGAGACCGAGACCAAGATCTTCCTGCAGTTTTATGACCAAACAG___GGATTTGGGACCATGGGGCACCACATCTCCTGCCCCCATCCCAAGCAAGAGGAACAAGGGAAGCCCCAGTGTACATGTCAAAGAGGGCTGCAAGCTCTGGGCCTCCTGGAAGCCCTAAACTTCCTCCAG___CTGCACAAGGACATGGAGAGGTCCCAGTTCATGATTTACTTTGGCACCCAGGCCCACCTGTTTAAAGTCACCCAGTTCAAGGACCCGGATGTGAATGGCATGCTGA___AACTCGAAGTCATGGCCACCTCCAGGGACAAAGAGGAGCTGCTGTGGGCCTGGCAGGGCTGGCAGGATGCCGTGGGCCGCCAGATCTGCACCACCTTCGAGCACTATGTGGAGCTCAGCAACAAGGCTGCACAGCTCAACG___GAAGAGGCTGCTGAGAAAGAGAATGAGAAGAGGCTGCTGCAGACAAGTGGACAGGGAAGGCCTCTGACATTTATCCAAGACCTGAAAGATGGGCAAAAGACGGGAAGCAAGATGTGAAAGAAGAGCAGCCTAGGCAGAGGCTCCGCGGCAGGAGGAGCCGGTGCTCTGGAAGACCTGAAAGAAGCCCAG___GTTACAAAGACATGGGGGCCTTGTGGCACTCCAAGTATGAGTCGGATACCCTGGAGCAAGACCTGGAGCGGCTATTCCAGGAGCTGCGGCCACTCTACCTGAACCTGCACACCTACGTGCGCAGGGCCCTCCACCGCCACTATGGGCCCGAGCTCATCGACCTGAGGGGGCCCATCCCTGCCCACCTCCTGG___AGAACACGTTGGCTCAGTCCTGGGTCAACATCTTAGACCCGGTCCTGCCCTTCCTGAAGAAGATCCCAGAGGATGTCACAAAGATCATGAAAGTCCAG___CACTGGAAGCCAGAGAAAATGTTGGAAGAGGCTGAGACATTCTTCACCTCCTTGGCGCTGCCACCTGCCCCACCCAGTTTCTGGAAAAAGTTGATGCTAATGAGGCCAACCGATGGGCGAGAGGTGGAGTGTCACATCTCTGCCTGGAACTTCTACCAGGACGACGATTTCAG___CTAGGAGGCTGAGGCAGGAGAATCACTGGAACCTGGGAGCCGGAGGCTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCTGGGAGACACAGCAAGACTCCGTCTCAAAAGAAAAAAAAAAAAAAGAACAACTGCCAAG___AATAAAGAAGTGCGCGGAAGTGACCACAGAAGACCCGCTCTCCATCTTCCACGAAATGGGCCATTCCAGTACTTCCTGCAGTACAAGAACCTCTCCATCATCTTCCGCGCAGGTGCCAACCCAGCCTTTGAAGAGGCTGTGGGGTCTGTGATCACCCTCTCGGCCTCCTCCCACAAGCACCTGCTCAACATAGGCCTGCTCAGCCTCTAGCACCAGGACTCAG___AGGATGAGGTCAATTTCCTGATGCATATTGCCCTGGAGAAGATCGCCTTCATCCCCTTTGGCTACCTGATGGACCTCCTTCGCTGGAAGGTCTTTGACGGCACCATCTGGAAGGACATCTACAATCAGGAGTGGTGGAACCTCAG___GTTGAAATACCAGGGCTTGTGCCCCGCTATTCCTCACTCAGAGGAAGACTTTGATCCAGGTGCCAAGTTCCACTTTTCTGCAG___GTACTTCCTCAGTCTGGTGCTCCAGTTCCAGTTCCACGAAACACTGTGCAAAGCCTCGGGCCACATGGGTCCACTGCACCAGTGTGACATCTACAACTCCAAGATTGCCGGGAAGCTCCTGGG___GGATGCTCTAAAGCTGGGCTCAAGCAAGCCCTGGCCAGAGGTCCTAAAGATGCTGACTGGGGAGTCTGAGGTGTCTACAAATGTCTTCATGACCTACTTCAAACCCCTACTGACCTGGCTGGTGACAGAACATGCAGCAAGGGGACATCTTAGGCTGGCCAGACTTCAGCTGTTCCTTTGAAG___AAAAAGACACAGACAAAGTGACATTCCTGAGTCTGAAGCTGGACCCCAACCAGGCTAAATTTGGGTACTGGGTGCTGTTGGCCCTGGGCTTTGTCATGTCTCTGGTGGTGCTGGGGCTGGCCTGCAGGCTGCAGTCCCTGGAAAAACAGTCACTGACTCAAGACACTGAGATATTCAGCCCACTGCCCAATGCCTGCTTCCTGGGCATAGCCATGGAACCCTGCCAGGCTGCTAAAGGACAGTGGATGCTGCTGGGCCTCTGCCTTGTCCTGATGCTGTGCTCAATCAGCCTGGCCATCTGGATTTTCACACAGTAAAGCAGGAAGCCTCCAAGG___TAACCCGGCTATGGGACTGCAGTGCCCAAGGAATTTCTGCTCTGGTTAGAAAAAGGACTCTGCTTCAGTCCACTTCTGCTCTGGTTAGAAAAAGGACTCTGCTTCAGTCCACAGTACATAAAATGTACTCAG___CTATCAGCTCTATAAGAGCTGGATGCACATCAGGAGTGTGCCCCTCTGTAACAACTCTAGTCAGCACAGGCCATGGTGCACAAAAGGGACTTGGAAAATGATGGAATGA___CCAGCCTGTCCAACAGAGGGGCAGCCAGGACATCTCTGCCCTCTTCTCATCCCCCAGCCACAGTGGCCAAAGAGGCCCCCACTAGGCACTGTGGCTCTGCATGACAAACACACATCCAGCCCAGGACTCTAAGCCTCTCACCTGGACTCCAGTAAAAACCTTGCTGAGCCTCCTTGTCTATCCTTCCTCCCCCACCCACCATTGTAAAGTTTATGTCACCAGAATATTTCTTTCATGTCTAATTGCTTAAGAACTTGGTTGTTCATCAATTAAATCTAGATGTTCAAAA)$ . 21BR001 ENSG00000138757.14 ENSG00000138755.6 -/- -/- chr4:75673208 chr4:76006274 5'UTR/splice-site CDS/splice-site duplication 20 28 1 69 364 high . . |Small_cytokines_(intecrine/chemokine)__interleukin-8_like(100%) . . ENSG00000138757.14 ENSG00000138755.6 ENST00000359707.8 ENST00000264888.6 upstream downstream duplicates(6),mismatches(2) ^(TAAAGCCCACGTCATGTTCTTCCTTTACTGCAGGGCCTCTTAATGGGGCTTAAAACCTAGGATGGGTTAAGTAAACAATGTAGGTGAGTTTAGTGTGCAAACAGCTGAAATCACCGGCTGCATTTTAAGCTCGTCTACAGCAGCAACCTGCAGACACCTATTCAGAGAGATTACTAAATTCCCTCCTTCCCATTAATAAAAAGGACCAGAATATCAGTCTACAAAAGACACTGCGTTGCTGCGAACCAGCTCTCGCTTGCGCGATCAGGAAGAAGGGCGGCAAGGCTGGAGCCTCGGGACCGGAGAAAGGCAGCCTGCTTGTGACGTCAAATCAGCGGACTCTTATCTTGGCTTTAGGCCGGTTCCGGTTCCCCGGCTTTCCGGGCGCGAGCGTGTGCGAGCGCGGCAGCGTACTGCGCGTGCTCCGCAGAGGGACACGGGAAGGTTGGGTCCGGCTCTGGAGGAGATGCGTGATTGGCTGACGCTGTGCTCGGGGGTTCCCTGGCCCTTTCGGCAGGGGTAAAACAATAAGAGGGGGCGGTGGCAAAGGGGGCGGGACGTCCGTGGTCCTTGTCGCACGTC)GCAGCGCCTGGCGCCCGGGAAGAGGTGGTTGTGAGGCAGACGAACTCGCGGCTCTCCGGCTTCCGAGGCTTCCGAGTTGTCGGAGGAAGGGGGCGGCGAGCAATAAGAACCCGCCGCACCCGGTCCTCAGCGACTCTTCTGACCTCCGCGCGACGTACCCGCCGCCGCCGTTGGCTGGAG|GAACCCCAGTAGTGAGAAAGGGTCGCTGTTCCTGCATCAGCACCAACCAAGGGACTATCCACCTACAATCCTTGAAAGACCTTAAACAATTTGCCCCAAGCCCTTCCTGCGAGAAAATTGAAATCAT___TGCTACACTGAAGAATGGAGTTCAAACATGTCTAAACCCAGATTCAGCAGATGTGAAGGAACTGATTAAAAAGTGGGAGAAACAG___GTCAGCCAAAAGAAAAAGCAAAAGAATGGGAAAAAACATCAAAAAAAGAAAGTTCTGAAAGTTCGAAAATCTCAACGTTCTCGTCAAAAGAAGACTACATAAGAGACCACTTCACCAATAAGTATTCTGT(GTTAAAAATGTTCTATTTTAATTATACCGCTATCATTCCAAAGGAGGATGGCATATAATACAAAGGCTTATTAATTTGACTAGAAAATTTAAAACATTACTCTGAAATTGTAACTAAAGTTAGAAAGTTGATTTTAAGAATCCAAACGTTAAGAATTGTTAAAGGCTATGATTGTCTTTGTTCTTCTACCACCCACCAGTTGAATTTCATCATGCTTAAGGCCATGATTTTAGCAATACCCATGTCTACACAGATGTTCACCCAACCACATCCCACTCACAACAGCTGCCTGGAAGAGCAGCCCTAGGCTTCCACGTACTGCAGCCTCCAGAGAGTATCTGAGGCACATGTCAGCAAGTCCTAAGCCTGTTAGCATGCTGGTGAGCCAAGCAGTTTGAAATTGAGCTGGACCTCACCAAGCTGCTGTGGCCATCAACCTCTGTATTTGAATCAGCCTACAGGCCTCACACACAATGTGTCTGAGAGATTCATGCTGATTGTTATTGGGTATCACCACTGGAGATCACCAGTGTGTGGCTTTCAGAGCCTCCTTTCTGGCTTTGGAAGCCATGTGATTCCATCTTGCCCGCTCAGGCTGACCACTTTATTTCTTTTTGTTCCCCTTTGCTTCATTCAAGTCAGCTCTTCTCCATCCTACCACAATGCAGTGCCTTTCTTCTCTCCAGTGCACCTGTCATATGCTCTGATTTATCTGAGTCAACTCCTTTCTCATCTTGTCCCCAACACCCCACAGAAGTGCTTTCTTCTCCCAATTCATCCTCACTCAGTCCAGCTTAGTTCAAGTCCTGCCTCTTAAATAAACCTTTTTGGACACACAAATTATCTTAAAACTCCTGTTTCACTTGGTTCAGTACCACATGGGTGAACACTCAATGGTTAACTAATTCTTGGGTGTTTATCCTATCTCTCCAACCAGATTGTCAGCTCCTTGAGGGCAAGAGCCACAGTATATTTCCCTGTTTCTTCCACAGTGCCTAATAATACTGTGGAACTAGGTTTTAATAATTTTTTAATTGATGTTGTTATGGGCAGGATGGCAACCAGACCATTGTCTCAGAGCAGGTGCTGGCTCTTTCCTGGCTACTCCATGTTGGCTAGCCTCTGGTAACCTCTTACTTATTATCTTCAGGACACTCACTACAGGGACCAGGGATGATGCAACATCCTTGTCTTTTTATGACAGGATGTTTGCTCAGCTTCTCCAACAATAAGAAGCACGTGGTAAAACACTTGCGGATATTCTGGACTGTTTTTAAAAAATATACAGTTTACCGAAAATCATATAATCTTACAATGAAAAGGACTTTATAGATCAGCCAGTGACCAACCTTTTCCCAACCATACAAAAATTCCTTTTCCCGAAGGAAAAGGGCTTTCTCAATAAGCCTCAGCTTTCTAAGATCTAACAAGATAGCCACCGAGATCCTTATCGAAACTCATTTTAGGCAAATATGAGTTTTATTGTCCGTTTACTTGTTTCAGAGTTTGTATTGTGATTATCAATTACCACACCATCTCCCATGAAGAAAGGGAACGGTGAAGTACTAAGCGCTAGAGGAAGCAGCCAAGTCGGTTAGTGGAAGCATGATTGGTGCCCAGTTAGCCTCTGCAGGATGTGGAAACCTCCTTCCAGGGGAGGTTCAGTGAATTGTGTAGGAGAGGTTGTCTGTGGCCAGAATTTAAACCTATACTCACTTTCCCAAATTGAATCACTGCTCACACTGCTGATGATTTAGAGTGCTGTCCGGTGGAGATCCCACCCGAACGTCTTATCTAATCATGAAACTCCCTAGTTCCTTCATGTAACTTCCCTGAAAAATCTAAGTGTTTCATAAATTTGAGAGTCTGTGACCCACTTACCTTGCATCTCACAGGTAGACAGTATATAACTAACAACCAAAGACTACATATTGTCACTGACACACACGTTATAATCATTTATCATATATATACATACATGCATACACTCTCAAAGCAAATAATTTTTCACTTCAAAACAGTATTGACTTGTATACCTTGTAATTTGAAATATTTTCTTTGTTAAAATAGAATGGTATCAATAAATAGACCATTAATCAGAAAACAGATCTTGATTTTTTTTCTCTTGAATGTACCCTTCAACTGTTGAATGTTTAATAGTAAATCTTATATGTCCTTATTTACTTTTTAGCTTTCTCTCAAATAAAGTGTAACACTAGTTGAGATAACACATGAAAGCTCTTTAAAGGGTCGATCGGGAACAGGAAAAAAAACCTATGGAAAATATGACAACAC)$ . 21BR001 ENSG00000138757.14 ENSG00000138755.6 -/- -/- chr4:75673019 chr4:76006274 5'UTR/splice-site CDS/splice-site duplication 1 3 1 3 364 high . . |Small_cytokines_(intecrine/chemokine)__interleukin-8_like(100%) . . ENSG00000138757.14 ENSG00000138755.6 ENST00000359707.8 ENST00000264888.6 upstream downstream duplicates(1) AGGCAGACGAACTCGCGGCTCTCCGGCTTCCGAGGCTTCCGAGTTGTCGGAGGAAGGGGGCGGCGAGCAATAAGAACCCGCCGCACCCGGTCCTCAGCGACTCTTCTGACCTCCGCGCGACGTACCCGCCGCCGCCGTTGGCTGGAGG...GCGAGGCAATCGTCCGGTGTGTGAGCCCGGGAGCCGGAGGTGTAGCGGCAGAGACATTGTTCTTGCCGGCTCCCTACGGTGCCGTGTGTGCGTGAGAGAAGACCAGTCTTTCCTCTAG|GAACCCCAGTAGTGAGAAAGGGTCGCTGTTCCTGCATCAGCACCAACCAAGGGACTATCCACCTACAATCCTTGAAAGACCTTAAACAATTTGCCCCAAGCCCTTCCTGCGAGAAAATTGAAATCAT___TGCTACACTGAAGAATGGAGTTCAAACATGTCTAAACCCAGATTCAGCAGATGTGAAGGAACTGATTAAAAAGTGGGAGAAACAG___GTCAGCC(AAAAGAAAAAGCAAAAGAATGGGAAAAAACATCAAAAAAAGAAAGTTCTGAAAGTTCGAAAATCTCAACGTTCTCGTCAAAAGAAGACTACATAAGAGACCACTTCACCAATAAGTATTCTGTGTTAAAAATGTTCTATTTTAATTATACCGCTATCATTCCAAAGGAGGATGGCATATAATACAAAGGCTTATTAATTTGACTAGAAAATTTAAAACATTACTCTGAAATTGTAACTAAAGTTAGAAAGTTGATTTTAAGAATCCAAACGTTAAGAATTGTTAAAGGCTATGATTGTCTTTGTTCTTCTACCACCCACCAGTTGAATTTCATCATGCTTAAGGCCATGATTTTAGCAATACCCATGTCTACACAGATGTTCACCCAACCACATCCCACTCACAACAGCTGCCTGGAAGAGCAGCCCTAGGCTTCCACGTACTGCAGCCTCCAGAGAGTATCTGAGGCACATGTCAGCAAGTCCTAAGCCTGTTAGCATGCTGGTGAGCCAAGCAGTTTGAAATTGAGCTGGACCTCACCAAGCTGCTGTGGCCATCAACCTCTGTATTTGAATCAGCCTACAGGCCTCACACACAATGTGTCTGAGAGATTCATGCTGATTGTTATTGGGTATCACCACTGGAGATCACCAGTGTGTGGCTTTCAGAGCCTCCTTTCTGGCTTTGGAAGCCATGTGATTCCATCTTGCCCGCTCAGGCTGACCACTTTATTTCTTTTTGTTCCCCTTTGCTTCATTCAAGTCAGCTCTTCTCCATCCTACCACAATGCAGTGCCTTTCTTCTCTCCAGTGCACCTGTCATATGCTCTGATTTATCTGAGTCAACTCCTTTCTCATCTTGTCCCCAACACCCCACAGAAGTGCTTTCTTCTCCCAATTCATCCTCACTCAGTCCAGCTTAGTTCAAGTCCTGCCTCTTAAATAAACCTTTTTGGACACACAAATTATCTTAAAACTCCTGTTTCACTTGGTTCAGTACCACATGGGTGAACACTCAATGGTTAACTAATTCTTGGGTGTTTATCCTATCTCTCCAACCAGATTGTCAGCTCCTTGAGGGCAAGAGCCACAGTATATTTCCCTGTTTCTTCCACAGTGCCTAATAATACTGTGGAACTAGGTTTTAATAATTTTTTAATTGATGTTGTTATGGGCAGGATGGCAACCAGACCATTGTCTCAGAGCAGGTGCTGGCTCTTTCCTGGCTACTCCATGTTGGCTAGCCTCTGGTAACCTCTTACTTATTATCTTCAGGACACTCACTACAGGGACCAGGGATGATGCAACATCCTTGTCTTTTTATGACAGGATGTTTGCTCAGCTTCTCCAACAATAAGAAGCACGTGGTAAAACACTTGCGGATATTCTGGACTGTTTTTAAAAAATATACAGTTTACCGAAAATCATATAATCTTACAATGAAAAGGACTTTATAGATCAGCCAGTGACCAACCTTTTCCCAACCATACAAAAATTCCTTTTCCCGAAGGAAAAGGGCTTTCTCAATAAGCCTCAGCTTTCTAAGATCTAACAAGATAGCCACCGAGATCCTTATCGAAACTCATTTTAGGCAAATATGAGTTTTATTGTCCGTTTACTTGTTTCAGAGTTTGTATTGTGATTATCAATTACCACACCATCTCCCATGAAGAAAGGGAACGGTGAAGTACTAAGCGCTAGAGGAAGCAGCCAAGTCGGTTAGTGGAAGCATGATTGGTGCCCAGTTAGCCTCTGCAGGATGTGGAAACCTCCTTCCAGGGGAGGTTCAGTGAATTGTGTAGGAGAGGTTGTCTGTGGCCAGAATTTAAACCTATACTCACTTTCCCAAATTGAATCACTGCTCACACTGCTGATGATTTAGAGTGCTGTCCGGTGGAGATCCCACCCGAACGTCTTATCTAATCATGAAACTCCCTAGTTCCTTCATGTAACTTCCCTGAAAAATCTAAGTGTTTCATAAATTTGAGAGTCTGTGACCCACTTACCTTGCATCTCACAGGTAGACAGTATATAACTAACAACCAAAGACTACATATTGTCACTGACACACACGTTATAATCATTTATCATATATATACATACATGCATACACTCTCAAAGCAAATAATTTTTCACTTCAAAACAGTATTGACTTGTATACCTTGTAATTTGAAATATTTTCTTTGTTAAAATAGAATGGTATCAATAAATAGACCATTAATCAGAAAACAGATCTTGATTTTTTTTCTCTTGAATGTACCCTTCAACTGTTGAATGTTTAATAGTAAATCTTATATGTCCTTATTTACTTTTTAGCTTTCTCTCAAATAAAGTGTAACACTAGTTGAGATAACACATGAAAGCTCTTTAAAGGGTCGATCGGGAACAGGAAAAAAAACCTATGGAAAATATGACAACAC)$ . 21BR001 ENSG00000020922.13 ENSG00000253730.1 -/- -/+ chr11:94429911 chr17:50159310 CDS/splice-site intron translocation/5'-5' 10 13 1 81 33 high out-of-frame . . . . ENSG00000020922.13 ENSG00000253730.1 ENST00000323929.8 . upstream upstream duplicates(2),mismappers(1) ^(GGACGCCGTTCTCTCCCGCGGAATTCAGGTTTACGGCCCTGCGGGTTCTCAGAG___AATTTCTAGAATTTGGAATCGAGTGCATTTTCTGACATTTGAGTACAGTACCCAGGGGTTCTTGGAGAAGAACCTGGTCCCAGAGGAGCTTGACTGACCATAAAAATGAGTACTGCAGATGCACT___TGATGATGAAAACACATTTAAAATATTAGTTGCAACAGATATTCATCTTGGATTTATGGAGAAAGATGCAGTCAGAGGAAATGATACGTTTGTAACACTCGATGAAATTTTAAGACTTGCCCAGGAAAATGAA___GTGGATTTTATTTTGTTAGGTGGTGATCTTTTTCATGAAAATAAGCCCTCAAGGAAAACATTACATACCTGCCTCGAGTTATTAAGAAAATATTGTATGGGTGATCGGCCTGTCCAGTTTGAAATTCTCAGTGATCAGTCAGTCAACTTTGGTTTTAGTAA___GTTTCCATGGGTGAACTATCAAGATGGCAACCTCAACATTTCAATTCCAGTGTTTAGTATTCATGGCAATCATGACGATCCCACAGGG___GCAGATGCACTTTGTGCCTTGGACATTTTAAGTTGTGCTGGATTTGTAAATCACTTTGGACGTTCAATGTCTGTGGAGAAGATAGACATTAGTCCGGTTTTGCTTCAAAAAGGAAGCACAAAGATTGCGCTATATGGTTTAG___GATCCATTCCAGATGAAAGGCTCTATCGAATGTTTGTCAATAAAAAAGTAACAATGTTGAGACCAAAGGAAGATGAGAACTCTTGGTTTAACTTATTTGTGATTCATCAGAACAG___GAGTAAACATGGAAGTACTAACTTCATTCCAGAACAATTTTTGGATGACTTCATTGATCTTGTTATCTGGGGCCATGAACATGAGTGTAAAATAGCTCCAACCAAAAATGAACAACAGCTGTTTTATATCTCACAACCTGGAAGCTCAGTGGTTACTTCTCTTTCCCCAGGAGAAGCTGTAAAGAA___ACATGTTGGTTTGCTGCGTATTAAAGGGAGGAAGATGAATATGCATAAAATTCCTCTTCACACAGTGCGGCAGTTTTTCATGGAGGATATTGTTCTAGCTAATCATCCAGACATTTTTAACCCAGATAATCCTAAAGTAACCCAAGCCATACAAAGCTTCTGTTTGGAGAAG___ATTGAAGAAATGCTTGAAAATGCTGAACGGGAACGTCTGGGTAATTCTCACCAGCCAGAGAAGCCTCTTGTACGACTGCGA___GTGGACTATAGTGGAGGTTTTGAACCTTTCAGTGTTCTTCGCTTTAGCCAGAAATTTGTGGATCGGGTAGCTAATCCAAAAGACATTATCCATTTTTTCAGGCATAGAGAACAAAAGGAAAAAACAG___GAGAAGAGATCAACTTTGGGAAACTTATCACAAAGCCTTCAGAAGGAACAACTTTAAGGGTAGAAGATCTTGTAAAACAGTACTTTCAAACCGCAGAGAAG___AATGTGCAGCTCTCACTGCTAACAGAAAGAGGGATGGGTGAAGCAGTACAAGAATTTGTGGACAAGGAGGAGAAAGATGCCATTGAGGAATTAGTGAAATACCAGTTGGAAAAAACACAGCGATTTCTTAAAGAACGTCATATTGATGCCCTCGAAGACAAAATCGATGAGGAG___GTACGTCGTTTCAGAGAAACCAGACAAAAAAATACTAATGAAGAAGATGATGAAGTCCGTGAG___GCTATGACCAGGGCCAGAGCACTCAGATCTCAGTCAGAGGAGTCTGCTTCTGCCTTTAGTGCTGATGACCTTATGAGTATAGATTTAGCAGAACAGATGGCTAATGACTCTGATGATAGCATCTCAGCAGCAACCAACAAAGGAAGAGGCCGAGGAAGAGGTCGAAGAGGTGGAAGAGGGCAGAATTCAGCATCGAGAGGAGGGTCTCAAAGAGGAAGAG___CAGACACTGGTCT)GGAGACTTCTACCCGTAGCAGGAACTCAAAGACTGCTGTGTCAGCATCTAGAAATATGTCTATTATAGATG___CCTTTAAATCTACAAGACAGCAGCCTTCCCGAAATGTCACTACTAAGAATTATTCAGAG___GTGATTGAGGTAGATGAATCAGATGTGGAAGAAGACATTTTTCCTACCACTTCAAAGACAGATCAAAG___GTGGTCCAGCACATCATCCAGCAAAATCATGTCCCAGAGTCAAGTATCGAAAGGGGTTGATTTTGAATCAAGTGAG|ATGGAGTTTCGCTCTTGTTGCCCAGGCTAGAGTGGGATGGCGCAATCTTGGCTCACCGCAACATCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTAATTTTGTAGATTCCTAGGAGGTC...___GTCTTTAATCCATCTGGAATTCATATTTATGGATGGTGTGAAGATTTTTCATAGGAAAAGCCAATTGTCAC MSTADALDDENTFKILVATDIHLGFMEKDAVRGNDTFVTLDEILRLAQENEVDFILLGGDLFHENKPSRKTLHTCLELLRKYCMGDRPVQFEILSDQSVNFGFSKFPWVNYQDGNLNISIPVFSIHGNHDDPTGADALCALDILSCAGFVNHFGRSMSVEKIDISPVLLQKGSTKIALYGLGSIPDERLYRMFVNKKVTMLRPKEDENSWFNLFVIHQNRSKHGSTNFIPEQFLDDFIDLVIWGHEHECKIAPTKNEQQLFYISQPGSSVVTSLSPGEAVKKHVGLLRIKGRKMNMHKIPLHTVRQFFMEDIVLANHPDIFNPDNPKVTQAIQSFCLEKIEEMLENAERERLGNSHQPEKPLVRLRVDYSGGFEPFSVLRFSQKFVDRVANPKDIIHFFRHREQKEKTGEEINFGKLITKPSEGTTLRVEDLVKQYFQTAEKNVQLSLLTERGMGEAVQEFVDKEEKDAIEELVKYQLEKTQRFLKERHIDALEDKIDEEVRRFRETRQKNTNEEDDEVREAMTRARALRSQSEESASAFSADDLMSIDLAEQMANDSDDSISAATNKGRGRGRGRRGGRGQNSASRGGSQRGRADTGLETSTRSRNSKTAVSASRNMSIIDAFKSTRQQPSRNVTTKNYSEVIEVDESDVEEDIFPTTSKTDQRWSSTSSSKIMSQSQVSKGVDFESSE|mefrsccpg* 21BR001 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 19 5 0 124 72 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGA)AATGGAAGCAGCTAGGCAaGAACACCAATTAATGCTAATGAGGCAAG___ATCcAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTATCTGCTCATTATTTTCTAAC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARqEHQLMLMRQDpMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 21BR001 ENSG00000126561.16 ENSG00000238704.1(8291),ENSG00000033627.16(10294) +/+ ./+ chr17:42299881 chr17:42448550 CDS/splice-site intergenic deletion/read-through 4 15 0 129 36 high out-of-frame . STAT_protein__all-alpha_domain(100%),STAT_protein__protein_interaction_domain(100%)| . . ENSG00000126561.16 . ENST00000345506.8 . downstream upstream duplicates(1),low_entropy(1) ^(AGACAGGATATTCACTGCTGTGGCAAGGCCTGTAGAGAGTTTCGAAGTTAGGAGGACTCAAGACGGTCCCTCCCTGGACTTTTCTGAAG___GGGCTCAAAAGATGACACGCGCCAGAGCTGGAAGGCGTCGCCAATTGGTCCACTTTTCCCTCCTCCCTTTTTGCGGATGAGAAAACTGAGGCCCAGGTTTGGGATTTCCAGAGCCCGGGATTTCCCGGCAACGCCCGACAACCACATTCCCCCGGCTATTCTGACCCGCCCCGGTTCCGGGACGCTCCCTGGGAGCCGCCGCCGAGGGCCTGCTGGGACTCCCGGGGGACCCCGCCGTCGGGGCAGCCCCCACGCCCGGCGCCGCCCGCCGGGAACGGCCGCCGCTGTTGCGCACTTGCAGGGGAGCCGGCGACTGAGGGCGAGGCAGGGAGGGAGCAAGCGGGGCTGGGAGGGCTGCTGGCGCGGGCTCGCGCGCTGTGTATGGTCTATCGCAGGCAGCTGACCTTTGAGGAGGAAATCGCTGCTCTCCGCTCCTTCCTGTAGTAACAGCCGCCGCTGCCGCCGCCGCCAGGAACCCCGGCCGGGAGCGAGAGCCGCGGGGCGCAGAGCCGGCCCGGCTGCCGGACGGTGCGGCCCCACCAG___GTGAACGGCCATGGCGGGCTGGATCCAGGCCCAGCAGCTGCAGGGAGACGCGCTGCGCCAGATGCAGGTGCTGTACGGCCAGCACTTCCCCATCGAGGTCCGGCACTACTTGGCCCAGTGGATTGAGAGCCAGCCATG___GGATGCCATTGACTTGGACAATCCCCAGGACAGAGCCCAAGCCACCCAGCTCCTGGAGGGCCTGGTGCAGGAGCTGCAGAAGAAGGCGGAGCACCAGGTGGGGGAAGATGGGTTTTTACTGAAGATCAAGCTGGGGCACTACGCCACGCAGCTCCAG___AAAACATATGACCGCTGCCCCCTGGAGCTGGTCCGCTGCATCCGGCACATTCTGTACAATGAACAGAGGCTGGTCCGAGAAGCCAACAAT___TGCAGCTCTCCGGCTGGGATCCTGGTTGACGCCATGTCCCAGAAGCACCTTCAGATCAAC)CAGACATTTGAGGAGCTGCGACTGGTCACGCAGGACACAGAGAATGAGCTGAAGAAACTGCAGCAGACTCAGGAGTACTTCATCATCCAGTACCAGGAGAGCCTGAGGATCCAAG___CTCAGTTTGCCCAGCTGGCCCAGCTGAGCCCCCAGGAGCGTCTGAGCCGGGAGACGGCCCTCCAGCAGAAGCAGGTGTCTCTGGAGGCCTGGTTGCAGCGTGAGGCACAGACACTGCAGCAGTACCGCGTG|CTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGGGATTGCAGGCGCGCGCCGCCACGCCTGACtGGTTTTCGTATTTTTcTGGTGGAGACGGG MAGWIQAQQLQGDALRQMQVLYGQHFPIEVRHYLAQWIESQPWDAIDLDNPQDRAQATQLLEGLVQELQKKAEHQVGEDGFLLKIKLGHYATQLQKTYDRCPLELVRCIRHILYNEQRLVREANNCSSPAGILVDAMSQKHLQINQTFEELRLVTQDTENELKKLQQTQEYFIIQYQESLRIQAQFAQLAQLSPQERLSRETALQQKQVSLEAWLQREAQTLQQYRV|ldctaaisahcnlpa* 21BR001 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 8 8 1 17 31 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismatches(1) CATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCgTGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGtAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGC(CGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 21BR001 ENSG00000150540.14 ENSG00000158470.5 +/+ -/+ chr2:137970217 chr20:49706793 CDS/splice-site intron translocation/5'-5' 4 6 0 52 19 high out-of-frame . . . . ENSG00000150540.14 ENSG00000158470.5 ENST00000280097.5 . downstream upstream duplicates(1) ^(CTTTCTCAGAAAACCAAATATGGCATCTTCCATGAGGAGCTTGTTTTCTGACCACGGGAAATATGT)TGAATCTTTCCGGAGGTTTCTCAACCATTCCACGGAACACCAGTGCATGCAGGAATTCATGGACAAGAAGCTGCCAGGCATAATAGGAAG___GATTGGAGACACAAAATCAGAAATTAAGATTCTAAGCATAGGCGGAGGTGCAG|GCCTCAGCAGCATTACATTGCTCACTTCTTACGTGCTAAGGTTTTTCTTTGCCTTATGTGATTAGATGTGCCGAACATACTTCCAAGATCTAAAAAGCAGCAAAATTTAGGGAAGCAAGAAGTCAATTGTATTCTGGCCTTCTGCTGCTTTGGAATTTCTGCTCTCTCAGAGAGCTCTAAAGAGGCATGGCAACACAGAGCCCCTCCTTCCT MASSMRSLFSDHGKYVESFRRFLNHSTEHQCMQEFMDKKLPGIIGRIGDTKSEIKILSIGGGA|glssitlltsyvlrfffalcd* 21BR001 ENSG00000138757.14(50307),ENSG00000138768.14(317) ENSG00000138755.6 ./- -/- chr4:75724276 chr4:76006274 intergenic CDS/splice-site duplication 3 3 0 18 364 high . . |Small_cytokines_(intecrine/chemokine)__interleukin-8_like(100%) . . . ENSG00000138755.6 . ENST00000264888.6 upstream downstream . GAGGATTTGATTAGACTACGCGTTTCGACTTGCAGGGTGTTTAATCGTCGCCAAGCGGGACTTACTGCAAGCTATCAAATCTGAGGTCTTATTTTGTTGAGTCGAAAGTGAAATTTTCCTTTGGCCAACGTGACAG|GAACCCCAGTAGTGAGAAAGGGTCGCTGTTCCTGCATCAGCACCAACCAAGGGACTATCCACCTACAATCCTTGAAAGACCTTAAACAATTTGCCCCAAGCCCTTCCTGCGAGAAAATTGAAATCAT___TGCTACACTGAAGAATGGAGTTCAAACATGTCTAAACCCAGATTCAGCAGATGTGAAGGA(ACTGATTAAAAAGTGGGAGAAACAG___GTCAGCCAAAAGAAAAAGCAAAAGAATGGGAAAAAACATCAAAAAAAGAAAGTTCTGAAAGTTCGAAAATCTCAACGTTCTCGTCAAAAGAAGACTACATAAGAGACCACTTCACCAATAAGTATTCTGTGTTAAAAATGTTCTATTTTAATTATACCGCTATCATTCCAAAGGAGGATGGCATATAATACAAAGGCTTATTAATTTGACTAGAAAATTTAAAACATTACTCTGAAATTGTAACTAAAGTTAGAAAGTTGATTTTAAGAATCCAAACGTTAAGAATTGTTAAAGGCTATGATTGTCTTTGTTCTTCTACCACCCACCAGTTGAATTTCATCATGCTTAAGGCCATGATTTTAGCAATACCCATGTCTACACAGATGTTCACCCAACCACATCCCACTCACAACAGCTGCCTGGAAGAGCAGCCCTAGGCTTCCACGTACTGCAGCCTCCAGAGAGTATCTGAGGCACATGTCAGCAAGTCCTAAGCCTGTTAGCATGCTGGTGAGCCAAGCAGTTTGAAATTGAGCTGGACCTCACCAAGCTGCTGTGGCCATCAACCTCTGTATTTGAATCAGCCTACAGGCCTCACACACAATGTGTCTGAGAGATTCATGCTGATTGTTATTGGGTATCACCACTGGAGATCACCAGTGTGTGGCTTTCAGAGCCTCCTTTCTGGCTTTGGAAGCCATGTGATTCCATCTTGCCCGCTCAGGCTGACCACTTTATTTCTTTTTGTTCCCCTTTGCTTCATTCAAGTCAGCTCTTCTCCATCCTACCACAATGCAGTGCCTTTCTTCTCTCCAGTGCACCTGTCATATGCTCTGATTTATCTGAGTCAACTCCTTTCTCATCTTGTCCCCAACACCCCACAGAAGTGCTTTCTTCTCCCAATTCATCCTCACTCAGTCCAGCTTAGTTCAAGTCCTGCCTCTTAAATAAACCTTTTTGGACACACAAATTATCTTAAAACTCCTGTTTCACTTGGTTCAGTACCACATGGGTGAACACTCAATGGTTAACTAATTCTTGGGTGTTTATCCTATCTCTCCAACCAGATTGTCAGCTCCTTGAGGGCAAGAGCCACAGTATATTTCCCTGTTTCTTCCACAGTGCCTAATAATACTGTGGAACTAGGTTTTAATAATTTTTTAATTGATGTTGTTATGGGCAGGATGGCAACCAGACCATTGTCTCAGAGCAGGTGCTGGCTCTTTCCTGGCTACTCCATGTTGGCTAGCCTCTGGTAACCTCTTACTTATTATCTTCAGGACACTCACTACAGGGACCAGGGATGATGCAACATCCTTGTCTTTTTATGACAGGATGTTTGCTCAGCTTCTCCAACAATAAGAAGCACGTGGTAAAACACTTGCGGATATTCTGGACTGTTTTTAAAAAATATACAGTTTACCGAAAATCATATAATCTTACAATGAAAAGGACTTTATAGATCAGCCAGTGACCAACCTTTTCCCAACCATACAAAAATTCCTTTTCCCGAAGGAAAAGGGCTTTCTCAATAAGCCTCAGCTTTCTAAGATCTAACAAGATAGCCACCGAGATCCTTATCGAAACTCATTTTAGGCAAATATGAGTTTTATTGTCCGTTTACTTGTTTCAGAGTTTGTATTGTGATTATCAATTACCACACCATCTCCCATGAAGAAAGGGAACGGTGAAGTACTAAGCGCTAGAGGAAGCAGCCAAGTCGGTTAGTGGAAGCATGATTGGTGCCCAGTTAGCCTCTGCAGGATGTGGAAACCTCCTTCCAGGGGAGGTTCAGTGAATTGTGTAGGAGAGGTTGTCTGTGGCCAGAATTTAAACCTATACTCACTTTCCCAAATTGAATCACTGCTCACACTGCTGATGATTTAGAGTGCTGTCCGGTGGAGATCCCACCCGAACGTCTTATCTAATCATGAAACTCCCTAGTTCCTTCATGTAACTTCCCTGAAAAATCTAAGTGTTTCATAAATTTGAGAGTCTGTGACCCACTTACCTTGCATCTCACAGGTAGACAGTATATAACTAACAACCAAAGACTACATATTGTCACTGACACACACGTTATAATCATTTATCATATATATACATACATGCATACACTCTCAAAGCAAATAATTTTTCACTTCAAAACAGTATTGACTTGTATACCTTGTAATTTGAAATATTTTCTTTGTTAAAATAGAATGGTATCAATAAATAGACCATTAATCAGAAAACAGATCTTGATTTTTTTTCTCTTGAATGTACCCTTCAACTGTTGAATGTTTAATAGTAAATCTTATATGTCCTTATTTACTTTTTAGCTTTCTCTCAAATAAAGTGTAACACTAGTTGAGATAACACATGAAAGCTCTTTAAAGGGTCGATCGGGAACAGGAAAAAAAACCTATGGAAAATATGACAACAC)$ . 21BR001 ENSG00000108306.13 ENSG00000126561.16 -/- +/- chr17:39343180 chr17:42295855 CDS/splice-site intron duplication/5'-5' 2 2 1 21 15 high out-of-frame . F-box-like(100%)| . . ENSG00000108306.13 ENSG00000126561.16 ENST00000264658.11 . upstream downstream . ^(GGAGAGAGCCGAGCTAGCGACGAGCAGTCGTTGCGGCCGCCGGCGCCGCGGGAGGTGGTGGAGGCCTAGCCGGAGCCGAGAGGTCTCTTGTTCCCGTCCCACGGTCCCGGCGTCACCCCTCCGGCGCCCAGTCCCCGTCCCGGAACTCCCGGGCCTGT)CCTGGGCCCCCGGTCTGTGCACTCCGCTCGCCGCAGCGCCCGGCCCGGGCCGCACCCGCCGGCCCCATGAGGAGGGACGTGAACGGAGTGACCAAGAGCAGGTTTGAG___ATGTTCTCAAATAGTGATGAAGCTGTAATCAATAAAAAACTTCCCAAAGAACTCCTGTTACG|GAGTCCATAGAATGTTCCTCACTCCCACCCTCCGGATGCACACTGCCTCCACCGCGCCTCACCTTGGATCCTCAGGCTCTCCTGGTACTGGATGATGAAGTACTCCTGAGTCTGCTGCAGTTTCTTCAGCTCATTCTCTGTGTCCTGCGTGACCAGTCGCAGCTCCTCAAATGTCTGGTTGATCTGAAGGTGCTTCTGGGACATGGCGTCAACCAGGATCCCAGCCGGAGAGCTGCACTGGAGACAGATGGAATGGAAATAACTCGGGGAAGAGAGGATGGGAGAAGACCACAGGCATTAGGAAACACC MRRDVNGVTKSRFEMFSNSDEAVINKKLPKELLLr|sp* 21BR001 ENSG00000012232.9 ENSG00000127589.4(2146),ENSG00000254109.6(26455) +/+ ./+ chr8:28743214 chr8:30355664 CDS/splice-site intergenic deletion 1 2 0 29 6 high out-of-frame . Exostosin_family(100%),Glycosyl_transferase_family_64_domain(100%)| . . ENSG00000012232.9 . ENST00000523149.5 . downstream upstream duplicates(1) ^(AGAGGGCGGGGCCGGGCCGCTGGCGCTGTCGCCGGCTGCAGTGGCCGCCGCTGGAGACCGCGGGACCTGGCGCTGCAGCGAG___GAGAGCAAGCCCTGGAGGTTCACTCTTTCAAGAAGTCGTGTGCTGAGGTGTAATGCTACACAAGTCAGAGGAAGGAAGG___GTCCTGGTGGAATTCACCTGCAAAAACCAGCCCAAACCCAGCCTGCCGACTGAGTGGGCACTGTGTGGAGAGCGGGAGGACCGCTTGGAATTGCTGAAGCTCTCCACCTTCGCCCTCATCATTACCCCCGGGGACCCTCGCTTGGTTATTTCCTCTGGGTGTGCAACACGGCTCTTCGAAGCCCTGGAAGTCGGTGCCGTCCCGGTGGTGCTGGGGGAGCAGGTCCAGCTTCCCTACCAGGACATGCTGCAGTGGAACGAGGCGGCCCTGGTGGTGCCAAAGCCTCGTGTTACCGAGGTTCATTTCCTGCTCAGAAGCCTCTCCGATAGTGACCTCCTGGCTATGAGGCGGCAAGGCCGCTTTCTCTGGGAGACTTACTTCTCCACTGCTGACAGTATTTTTAATACCGTGCTGGCTATGATTAGGACTCGCATCCAGATCCCAGCCGCTCCCATCCGGGAAGAGGCGGCAGCTGAGATCCCCCACCGTTCAGGCAAGGCGGCTGGAACTGACCCCAACATGGCTGACAACGGGGACCTGGACCTGGGGCCAGTGGAGACGGAGCCGCCCTACGCCTCACCCAGATACCTCCGCAATTTCACTCTGACTGTCACTGACTTTTACCGCAGCTGGAACTGTGCTCCAGGGCCTTTCCATCTTTTCCCCCACACTCCCTTTGACCCTGTGTTGCCCTCAGAGGCCAAATTCTTGGGCTCAGGGACTGGCTTTCGGCCTATTGGTGGTGGAGCTGGGGGTTCTGGCAAGGAATTTCAGGCAGCGCTTGGAGGCAATGTTCCCCGAGAGCAGTTCACGGTGGTGATGTTGACTTATGAGCGGGAGGAAGTGCTTATGAACTCTTTAGAGAGGCTGAATGGCCTCCCTTACCTGAACAAGGTCGTGGTGGTGTGGAATTCTCCCAAGCTGCCATCAGAGGACCTTCTGTGGCCTGACATTGGCGTCCCCATCATG___GTGGTCCGTACTGAGAAGAACAGTTTGAACAACCGATTCTTACCCTGGAATGAAATTGAGACAGAGGCCATCCTGTCCATTGATGACGATGCTCACCTCCGCCATGACGAAATCATGTTTGGGTTCCG___GGTGTGGAGAGAAGCTCGGGACCGCATCGTGGGCTTCCCTGGCCGTTACCACGCATGGGACATCCCCCATCAGTCCTGGCTCTACAACTCCAACTACTCCTGTGAGCTGTCCATGGTGCTGACAGGTGCTGCCTTCTTTCACAAG___TATTATGCCTACCTGTATTCTTATGTGATGCCCCAGGCCATC)CGGGACATGGTGGATGAATACATCAACTGTGAGGACATTGCCATGAACTTCCTTGTCTCCCACATCACTCGGAAGCCCCCCATCAAG|GTACATGTACACAGCTGTGAAACCACTAGCGCTATCAAGATCTAGACTATTTCCAGCTCCTCCAGAAGGTTCCTTTGTAGCACTCTTTAAAAACATAAGAACAATACCACTATCAC MLHKSEEGRVLVEFTCKNQPKPSLPTEWALCGEREDRLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNEAALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQIPAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDFYRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPREQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRTEKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDIPHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLVSHITRKPPIK|vhvhscettsaiki* 21BR001 ENSG00000175662.17 ENSG00000141027.21 -/- -/- chr17:17845605 chr17:16050972 3'UTR intron deletion 14 25 0 147 66 medium stop-codon . GAT_domain(100%),VHS_domain(100%)| . . ENSG00000175662.17 ENSG00000141027.21 ENST00000581396.5 . upstream downstream duplicates(7),mismappers(33),mismatches(1) ^(GGGGGCAAGTGTCAGTCAGGACGGGAGTCCGGCGGGTTACAGCGGAGGCCTAGGTGGCAGACAGGGGGCCCGGGCCGCTGCGTGTTGTCCACCCAAGATGGAGTTCCTCCTGGGGAACCCGTTCAGCACACCAGTGGGGCAGTGCCTCG___AAAAGGCAACAGATGGCTCCCTGCAAAGTGAGGATTGGACGTTGAATATGGAGATCTGTGACATCATCAATGAGACGGAGGAAGG___GCCAAAGGATGCCATTCGAGCCCTGAAGAAGCGGCTCAACGGGAACCGGAACTACAGAGAGGTGATGCTGGCATTAACA___GCATGGGCTGATGCCTTTCGAAGCAGTCCTGATCTCACCGGCGTTGTGCACATATATGAGGAGCTGAAGAGGAAAGGGGTTGAATTTCCCATGGCAGACTTGGACGCTCTGTCTCCCATACACACACCACAGCGG___AGTGTCCCTGAAGTGGATCCAGCTGCGACCATGCCCAGGTCCCAATCACAGCAGAGGACAAGTGCTGGTTCCTATTCCTCGCCGCCTCCTGCTCCCTACTCCGCACCGCAGGCCCCAGCTCTGAGTGTGACTGGCCCCATCACAGCCAATTCAGAACAG___ATTGCCAGGCTGCGGAGTGAACTGGACGTCGTTCGAGGAAACACAAAAGTCATGTCTGAGATGTTAACAGAAATGGTCCCTGGACAGGAGGATTCATCTGATCTGGAGTTGCTGCAG___GAGCTCAACAGGACCTGTCGGGCCATGCAGCAGCGCATCGTGGAGCTCATCTCCCGCGTGTCCAATGAGGAGGTCACCGAGGAGCTGCTGCATGTGAACGATGACCTCAACAACGTCTTCCTTCGATACGAGAG___GTTCGAACGATACAGGTCTGGCCGATCCGTTCAAAATGCCAGTAATGGA___GTACTGAATGAAGTAACCGAAGACAACTTAATAGACCTGGGGCCAGGGTCTCCAGCCGTGGTGAGCCCAATGGTGGGGAACACAGCGCCCCCATCTTCCCTCTCCTCCCAGCTTGCAGGCTTAG___ACTTGGGGACAGAGAGCGTCAGTGGCACCCTCAGTTCACTCCAGCAATGTAATCCCCGTGACGGCTTTGACATGTTTGCCCAGACGAGAGGAAACTCCTTGGCTGAGCAGCGCAAGAC___GGTAACCTATGAGGATCCTCAGGCTGTCGGAGGACTTGCTTCTGCACTAGACAATCGAAAACAGAGTTCAGAAGGG___ATCCCCGTTGCGCAGCCATCTGTCATGGACGACATTGAGGTGTGGCTCAGGACCGACCTG___AAGGGTGATGATCTGGAGGAGGGTGTCACAAGTGAAG___AGTTTGATAAATTCCTTGAAGAAAGAGCCAAAGCTGCTGAAATGGTTCCCGACCTCCCCTCGCCCCCCATGGAGGCTCCTGCCCCAGCCTCAAACCCTTCTGGCCGGAAGAAGCCAGAGCGGTCAGAGGATGCCCTCTTCGCCCTGTGAGCAGCTCTGTGGTTTGCCTCCCCAGATGGCGGGTCCCCGCTCGCACCCCGTGGACACCGGGCACTGGCCACTCCTACATCCCCAGCTCCACACGGCCTGCACACCTGTGTTTCCATGGAAATGCCACCGTGTCTGCTCCCAGGCCTCCCACTAGTCAGGACCAGCTTCAGCCACTTCTTTTCTCTGAGTGGTGGGACAACTGCAGCCAGAGACTCTCTCCCCTCCCACCATGGGCCCCTCTGCCCATGTTTCCTCCCAGGAAGAGCGGGCAGAGTGGCCCAGCCCCAGGCAGTGCTTCCTGAGCAGACCACCCGGACTGTCTTTCCTCCACCCGCCCATGGAGAAAGAGCACGCCCGGCCCCGCCCTGTGCTCACCTCTGCCTGGCTCAGCGACCTTCTCAGGCATTCTGCCCTCCTGGGCCCCTCTCTCCCTGAAGGGGCTTTGTGGCATCTCTGGAAGAGCAGGGTGTGCTGCACTCATGGGCCTGGTCTCACTCCTTGGACTTGTCACCTTGTGACATTTGGCTTATCAGCATTTGAGAAGGCTCTGCTGGGTCTCCATGGTGGGGGTCTCTCACCTTCTTGACCCTCTCTCCATCATTCAGCTGCCAGCCCAGGCTTCACACCCAAGCTGGCTCAGCAGCCGAGCCTGGCACCGAGGGTCCCTGCAGGCTCCCTGGGCAGGGAGAGGGCCAAGGACAATTGGGAGGGCAGCAGGCAGCCCGCAGATGGTGGCCATGTGGCACGCTGCTGAGACGACACTACCAATAAACCAAACTGCCACGCACACACTGCAGGCTCACACCCGCACACCTGGTCCTGGCTTGTGGAGGGACTTGCACTGGAGGTATTGCTCTGGCTTGCCTGGGGAAGTGTCACAGATGTGCACATGGGCCACACTCAGTGCTGTGGCCTGGCCTGCCGTAGCCTCACACATCTGCCTCAAGAGCCAGCAGCAAACAGCTTTGTGGCATCCTTGGAGGTTCCCAGTGACTGAGAGGCCTGGGCAGCACTAAGGCCCCTGCTCTGCTCCCTGGCATAGGCCTTGGCCTCCTTGCACAGACTCTCCTGACAGTCTGGCCTCCTCCCACCTCAGAGGTCCTCTGGCCACCAATTTATACTCTCTCCCCAAGCTGATCCTGAAGGCAGGCAGAGCAGCTAGGGGCTGGTAACATGTATTCCCATCCCGTGTCCTCACTGGTGTGTCTCCTGGCCATGGGCAAGGGACTCGGGTCATCCCAGGCCCTGGTCCAGCCAGACACCTGGCCCCACACCTCCCACCAGGCTGCTGTTGCTCAGAAGGAGAATACTGCAGCTGTATGCATCCCCGTGTGTCTTGGGCCCAGCTCGCTGGGTCAGTCTGCTCCTGTCCCCTCCAGCATGCACTGCCTAGGTCAGCACAGGTTCCTGATCCATGGTGTAGTTAGCCCTTCCCACCTGGCAGGACGGCCCAGACCACCAGCCAAGCAGGGAAAGGGGGCTGGGCTTGACGGGAGAAGAGACCAGCGACATGGTCGTTGGGGAGCATTCAGGATGGCGACTTCAGCTGGGGGTCATGCTGAGCACCAACAGGAACTATTCCAGTGAAGAGCAAGTGCTGCCCGACCCAGGACCCTGTGCCAGGCTAGCAGCCCTCCAGCTCCCTCCAGAGAGGAAACCTCTGTCTGGCTGAGGGTGGGACTAGCTGGGATGTCTCACTCCAGTTGCTCAGGTTCACCCAGGAAGCTCCTCCGTGGAGTGGCCAGCCTGATTCTAGCCCTGTCCTCTCTGGCAGCACATGCCACACCTGC)CTGGGCCTTCTGCTCCCTGATGCTTGATGAGCCCCTGCCTCCTCAATGTTTCTCAAAGACAGACCCCCCTGAGGCCAGCTTGAATGTGAAGACTGCTGAAGTcAGCTGGCTTCACTTGAGCTGCAGAAAAGGTGGCTGGGATGGCCCAGGTGCACCCAGAGGCCCCAGCCCTTTGGCTGCCTTTGGGTTGTGACTTGGGTTGTCTCTGAGGCCCTGCCAGAGCTGGGCCTGCGGGTGGTG|TAGTCCCAGCTACTTGGGAGCCTGAGGTGGGAGGATCACGTGAGCGCAGAAGTTGAGGCTGCAGTAAGCAGTGATTGTACTACTGCACTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATAAAAATAAAAATAAAAATAAAATGGGCAACAACAGAGAAGGCAAATCAAATTCTTCATCTTTCATGGAAGAGAGTTAACAGATAC . 21BR001 ENSG00000153283.13 ENSG00000153283.13(13155),ENSG00000240891.8(9149) +/+ ./+ chr3:111649858 chr3:111665527 3'UTR intergenic deletion/read-through 8 6 1 40 25 medium stop-codon . Immunoglobulin_V-set_domain(100%)| . . ENSG00000153283.13 . ENST00000352690.9 . downstream upstream . ^(AATTGACTTTGTGATCATTACAGAAATGCTGGTGTAAGGTGTTCAGAAGACAATGGAGAAAAAATGGAAATACTGTGCTGTCTATTACATCATCCAGATACATTTTGTCAAGG___GAGTTTGGGAAAAAACAGTCAACACAGAAGAAAATGTTTATGCTACACTTGGCTCTGATGTCAACCTGACCTGCCAAACACAGACAGTAGGCTTCTTCGTGCAGATGCAATGGTCCAAGGTCACCAATAAGATAGACCTGATTGCTGTCTATCATCCCCAATACGGCTTCTACTGTGCCTATGGGAGACCCTGTGAGTCACTTGTGACTTTCACAGAAACTCCTGAGAATGGGTCAAAATGGACTCTGCACTTAAGGAATATGTCTTGTTCAGTCAGTGGAAGGTACGAGTGTATGCTTGTTCTGTATCCAGAGGGCATTCAGACTAAAATCTACAACCTTCTCATTCAGACACACG___TTACAGCAGATGAATGGAACAGCAACCATACGATAGAAATAGAGATAAATCAGACTCTGGAAATACCATGCTTTCAAAATAGCTCCTCAAAAATTTCATCTGAGTTCACCTATGCATGGTCGGTG___GAGGATAATGGAACTCAGGAAACACTTATCTCCCAAAATCACCTCATCAGCAATTCCACATTACTTAAAGATAGAGTCAAGCTTGGTACAGACTACAGACTCCACCTCTCTCCAGTCCAAATCTTCGATGATGGGCGGAAGTTCTCTTGCCACATTAGAGTCGGTCCTAACAAAATCTTGAGGAGCTCCACCACAGTCAAGGTTTTTG___CTAAACCAGAAATCCCTGTGATTGTGGAAAATAACTCCACGGATGTCTTGGTAGAG___AGAAGATTTACCTGCTTACTAAAGAATGTATTTCCCAAAGCAAATATCACATGGTTTATAGATGGAAGTTTTCTTCATGATGAAAAAGAAG___GAATATATATTACTAATGAAGAGAGAAAAGGCAAAGATGGATTTTTGGAACTGAAGTCTGTTTTAACAAGGGTACATAGTAATAAACCAGCCCAATCAGACAACTTGACCATTTGGTGTATGGCTCTGTCTCCAGTCCCAGGAAATAAAGTGTGGAACATCTCATCAGAAAAGATCACTTTTCTCTTAG___GTTCTGAAATTTCCTCAACAGACCCTCCACTGAGTGTTACAGAATCTACCCTTGACACCCAACCTTCTCCAGCCAGCAGTGTATCTCCTGCAA___GATATCCAGCTACATCTTCAGTGACCCTTGTAGATGTGAGTGCCTTGAGGCCAAACACCACTCCTCAAC___CCAGCAATTCCAGTATGACTACCCGAGGCTTCAACTATCCCTGGACCTCCAGTGGGACAGATACCAAAAAAT___CAGTTTCACGGATACCTAGTGAAACATACAGTTCATCCCCGTCAGGTGCAGGCTCAACACTTCATG___ACAATGTCTTTACCAGCACAGCCAGAGCATTTTCAGAAGTCCCCACAACTGCCAATGGATCTACGAAAACTAATCACGTCCATATCACTG___GTATTGTGGTCAATAAGCCCAAAGATGGAATGTCCTGGCCAGTGATTGTAGCAGCTTTACTCTTTTGCTGCATGATATTGTTTGGTCTTGGAGTGAGAAAATGGTGTCAGTACCA)AAAAGAAAT___AATGGAAAGACCTCCACCTTTCAAGCCACCACCACCTCCCATCAAGTACACTTGCATTCAAGAGCCCAACGAAAGTGATCTGCCTTATCATGAGATGGAGACCCTCTAGTCTCGTGAGACTTTGCCCCATGGCAGAACTCTGCTGGAATCCTATTGAGAAG|GTATTGGCTGGGATCCACCAAAACTTCAATCAATTTTCCTTTCTTAAGGAGATAATTGGAGCCCTTTGATTTTCCCAAAACTCCAGAGCAAACTTACCCTCTCACCGTTGAACCATTTCATATCAAAGAAAACTAAGCTGTGTTTCTCCAGACTCCACCCAAGAAAGAGACTTTCATTCCTCCCTCAAACCCTTGGGCAGTG . 21BR001 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 3 1 0 667 19 medium stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000560197.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGA)CTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAG(GTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 21BR001 ENSG00000171862.11 ENSG00000185737.13 +/+ +/+ chr10:87958019 chr10:82951469 CDS/splice-site CDS/splice-site duplication 3 0 0 273 10 medium out-of-frame . C2_domain_of_PTEN_tumour-suppressor_protein(100%),Dual_specificity_phosphatase__catalytic_domain(100%)|Neuregulin_family(100%) . . ENSG00000171862.11 ENSG00000185737.13 ENST00000371953.8 ENST00000372141.7 downstream upstream . ^(GTTCTCTCCTCTCGGAAGCTGCAGCCATGATGGAAGTTTGAGAGTTGAGCCGCTGTGAGGCGAGGCCGGGCTCAGGCGAGGGAGATGAGAGACGGCGGCGGCCGCGGCCCGGAGCCCCTCTCAGCGCCTGTGAGCAGCCGCGGGGGCAGCGCCCTCGGGGAGCCGGCCGGCCTGCGGCGGCGGCAGCGGCGGCGTTTCTCGCCTCCTCTTCGTCTTTTCTAACCGTGCAGCCTCTTCCTCGGCTTCTCCTGAAAGGGAAGGTGGAAGCCGTGGGCTCGGGCGGGAGCCGGCTGAGGCGCGGCGGCGGCGGCGGCACCTCCCGCTCCTGGAGCGGGGGGGAGAAGCGGCGGCGGCGGCGGCCGCGGCGGCTGCAGCTCCAGGGAGGGGGTCTGAGTCGCCTGTCACCATTTCCAGGGCTGGGAACGCCGGAGAGTTGGTCTCTCCCCTTCTACTGCCTCCAACACGGCGGCGGCGGCGGCTGGCACATCCAGGGACCCGGGCCGGTTTTAAACCTCCCGTGCGCCGCCGCCGCACCCCCCGTGGCCCGGGCTCCGGAGGCCGCCGGCGGAGGCAGCCGTTCGGAGGATTATTCGTCTTCTCCCCATTCCGCTGCCGCCGCTGCCAGGCCTCTGGCTGCTGAGGAGAAGCAGGCCCAGTCGCTGCAACCATCCAGCAGCCGCCGCAGCAGCCATTACCCGGCTGCGGTCCAGAGCCAAGCGGCGGCAGAGCGAGGGGCATCAGCTACCGCCAAGTCCAGAGCCATTTCCATCCTGCAGAAGAAGCCCCGCCACCAGCAGCTTCTGCCATCTCTCTCCTCCTTTTTCTTCAGCCACAGGCTCCCAGACATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCT___ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAG___GTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCT___TTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAG___TTGCACAATATCCTTTTGAAGACCATAACCCACCACAGCTAGAACTTATCAAACCCTTTTGTGAAGATCTTGACCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTACATCGGGGCAAATTTTTAAAGGCACAAGAGGCCCTAGATTTCTATGGGGAAGTAAGGACCAGAGACAAAAAG___GGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGACCAGTGGCACTGTTGTTTCACAAGATGATGTTTGAAACTATTCCAATGTTCAGTGGCGGAA)CTTGCA___ATCCTCAGTTTGTGGTCTGCCAGCTAAAGGTGAAGATATATTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCATGTACTTTGAGTTCCCTCAGCCGTTACCTGTGTGTGGTGATATCAAAGTAGAGTTCTTCCACAAACAGAACAAGATGCTAAAAAAG|AGAGTGAAGAAGTTTATCAAAGGCAGGTGCTGTCAATTTCATGTATCATCTTTGGAATTGTCATCGTGGGCATGTTCTGTGCAGCATTCTACTTCAAAAGCAA(___GAAACAAGCTAAACAAATCCAAGAGCAGCTGAAAGTGCCACAAAATGGTAAAAGCTACAGTCTCAAAGCATCCAGCACAATGGCAAAGTCAGAGAACTTGGTGAAGAGCCATGTCCAGCTGCAAAAT___TATTCAAAGGTGGAAAGGCATCCTGTGACTGCATTGGAGAAAATGATGGAGTCAAGTTTTGTCGGCCCCCAGTCATTCCCTGAGGTCCCTTCTCCTGACAGAGGAAGCCAGTCTGTCAAACACCACAG___GAGTCTATCCTCTTGCTGCAGCCCAGGGCAAAGAAGTGGCATGCTCCATAGGAATGCCTTCAGAAGGACACCCCCGTCACCCCGAAGTAGGCTAGGTGGAATTGTGGGACCAGCATATCAGCAACTCGAAGAATCAAGGATCCCAGACCAGGATACGATACCTTGCCAAGG___GTATTCATCCAGTGGTTTAAAAACCCAACGAAATACATCAATAAATATGCAACTGCCTTCAAGAGAGACAAACCCCTATTTTAATAGCTTGGAGCAAAAGGACCTGGTGGGCTATTCATCCACAAGGGCCAGTTCTGTGCCCATCATCCCTTCAGTGGGTTTAGAGGAAACCTGCCTGCAAATGCCAGGGATTTCTGAAGTCAAAAGCATCAAATGGTGCAAAAACTCCTATTCAGCTGACGTTGTCAATGTGAGTATTCCAGTCAGCGATTGTCTTATAGCAGAACAACAAGAAGTGAAAATATTGCTAGAAACTGTCCAGGAGCAGATCCGAATTCTGACTGATGCCAGACGGTCAGAAGACTACGAACTGGCCAGCGTAGAAACCGAGGACAGTGCAAGCGAAAACACAGCCTTTCTCCCCCTGAGTCCCACAGCCAAATCAGAACGAGAGGCGCAATTTGTCTTAAGAAATGAAATACAAAGAGACTCTGCATTGACCAAGTGACTTGAGATGTAGGAATCTGTGCATTCTATGCTTTGCTCAACAGGAAAGAGAGGAAATCAAATACAAATTATTTATATGCATTAATTTAAGAGCATCTACTTAGAAGAAACCAAATAGTCTATCGCCCTCATATCATAGTGTTTTTTAACAAAATATTTTTTTAAGGGAAAGAAATGTTTCAGGAGGGATAAAGCTTACCATTAAAGCTTTTGGGTAGAATTCTGAATCCAATTTCGTTTAGTCCCAACACTGTCCTCTTTGGCTCTTAGAAGATGTGGGCAATTCAGACCCTTGGCCCCACAGTGCCAGTGTCTCATTAAAAAACACTGGCAGTTACCTGGTTTCAAAAAGAGGAGAGCTGCATCCCGCAGGTGGATGCACCAGTGAGCAGGTGGCTCTTGCCATTTGGCTTGCCAGTCCCAAGCCCTAAATTTCTATTCACCCAATAGCCTCATCACAGGTTATGTCATGTCGACACATGTAGTGTTTTCTATTTGATTTTTGGAGAATGCCACAAAAGACTCTGCAATGGGAAGGAGGACAGGAGATAGAAGGAGAAACCGGGGGCAATCTTAACTACTCTTGTGTGCCACCTTCCTCTGAGATTTGAATGCACAGATCTCAGCTGGAGGTATGAAATTATTACAGAAAAAGAGACAAAAAAATCCTTATATCGTGTCACTAAAATCATGCTAATAGAAATGTTTTTCCTTGAGATTGTTTAGAGGCTCTGGAGGAGCGTTTCTCAGTTTTTGTGTGCCTGTGTGCACATGTGTGTGCGAGCGTGTGTGTGTGTGGACTTGCTCACGCGGGCACATATGCTGTAAGCACATGTGTTCATTGTGCGTATGTGTGTGCATGTGTGCGCGTATTACGCTTGCTAAAATTTGTTCTGAAACATCAGGGAATCTACTATTCAGAAAAATTATTTCCCTCTTAGATCTTTTCACTTTAAATTTTTCCATTAAGTATAAAGTTCAGTTAGTTCTTAAATCAAGGTCACTTGCATGGTGGGGTCGTATAAAACTCTTGACACTGTCTAGACCATTTTCTGATGTGAATACTTTTGAGAGGATCAACTATTGGCTCATTAATGATATCAGTATCATAAGGTGAGTTCATCAAGGATGTGTGTTTATTTTGAATCATGCCTACTTAAATTATTAATACAAGACAATTAACAAATTGACAGTTACCATTTGCTTTCTCATCATCCTCATTACCATTTATTTTATAGCAAGTCTGCTATGTGTGGACCAAGGCTTCGGCTTCTGTGGTTAGTATGGGAAGAATAAATTGTTGAAATAAAAATACCCAGACTATTCAGTTCACAAGAAGCCCCCCAAAAGAACAGTAAATTGTGTTGTATGTTCATTTGGAATAAAGCAATATTTTTACCACTGCTAAGGTGAACTGAAACCTCTCCTGAAGATTTGTCTGTTTATTTACCCTCACTTTCATGGGACATATGAGGAAATTAGTGTTCACATATCCAGTCTTTTTCCAATTATTGGTGGTGTTGAGTTGTTATGTTTACACTGTTTTAAATAAAAAGGCACCGTATTTGAAAGCA)$ MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRTRDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMYFEFPQPLPVCGDIKVEFFHKQNKMLKK|rvkkfikgrccqfhvsslelsswacsvqhstskarnklnkskss* 21BR001 ENSG00000187775.17 ENSG00000167914.12 -/+ +/- chr17:78426474 chr17:39958036 CDS intron inversion 1 2 0 1 4 medium . . . . . ENSG00000187775.17 ENSG00000167914.12 . . downstream downstream mismatches(2) ACAGGCCCCCAGGAGCCTCCTGGCCATGCTCCTGCAGGCTCTAGGGTGTGGGGcGTGCCGAGCTCTGGGCACTCGGTCCCCGAGTCTTAGGAAGCCTCTCAGAGAAAACGGCACTTACCCTGATGCGGAGCAG|gtc|TGTTCAGCTCTAAGTGTGTCAAACTCAGCATCCAGCTTCAAGGTGTCAGCCCTCACTGCCCCCACCCCTCCACTGCCAATCCCCCTACCCATCAGCCCTGTCTGGGCAAGGAGGCCACTGCCAGCCTCCAGCCCAAACCCAGAGAACTCTCTTCTGTCAGGTGATCCTCCCAGCAACCCACCTCTTCCTGAGCCCCTGCTGATGCACGGGAGCATGTGTTGGAGCT . 21BR001 ENSG00000219736.1(225460),ENSG00000111799.21(8382) ENSG00000272243.6 ./- -/- chr6:75075944 chr6:74636631 intergenic exon/splice-site deletion 0 3 0 20 8 medium . . . . . . ENSG00000272243.6 . ENST00000658108.1 upstream downstream . TGATCATGTGACGAGGACCCTGTCTTTAGCTGAGCTACGGAGAGAGTCCTGCAACACCTTCACGTAGACATTCTT|ATTTGAGAAAGTCCATGCATGGGAGCAGGACAAAGAGAAATAATCTGATCATCCCTAAGAGGTTTCAAG___AATGAGCAATTGCGTAAAGCTGAGTCCTGGAAGGCTGCCTGTAGGGGGCAGTATGTGGTCTGGCCTTAAGGACAAAC(GGAATTTTCACCGGAGAAGACTGTGGCGGGGGCTTTTCAGGAGGAATGAATAGGAAGAGTACAGGAGGCTGTATAGCAGCAGGTGGCTTTGTTTGGTTGGAAAACACTCCAAGTGAAAAGGCATTGTGAAGAATGGAAGAGCTACTGAGAAACCAGCCTATGGAGTTTGGCTGTCTCTCCTAGTCACAAATAAGGAGCTGTTACTGGTTTTTGTCAAAAGAACAGGATGATCACATCTGTGCCTTAGGACACTTTAGATGGGGCAGAACAGGTACAGGGGATGTGGTGGGGGAAGAAATGACTCGATTTCAAACAAATCAAATAAATTACTTTGATGTTTAAAAAAAAAAAATAAAA)$ . 21BR001 ENSG00000158470.5 ENSG00000222394.2(236473),ENSG00000150540.14(12107) -/- ./- chr20:49713576 chr2:137951913 CDS/splice-site intergenic translocation 0 2 0 0 5 medium out-of-frame . . . . ENSG00000158470.5 . ENST00000371711.4 . upstream downstream duplicates(1) ^(ATGTGGCCCGGCCCGCGACGGCCGGCGGCTGGGAGCGGCGAGGCGGCGGCGGCGGCGAGTGGCGGCCCGCGAGGCCCGGGAGGCGGTGGCCGAGGCCCAGGCGGTGGCGGCGGCGGCCCAGGAGGCGGCGGACGGGGAGCTGCGGGAGCAGGCCCGGCCTGGCTCTCTAGCGGCCGCCTGGCTGCAGCATGCGCGCCCGCCGG)GGGCTGCTGCGGCTGCCGCGCCGCTCGCTGCTCGCCGCGCTCTTCTTCTTTTCTCTCTCGTCCTCGCTGCTGTACTTCGTCTATGTGGCGCCCGGCATAG|ATGAAGAGACCATGGCCCAGAACAGTGAATTGCCACTGGTCGCAGGACTAGGATGTGGAAGTTTGACTTGAG___ACTTCCTCTGGATACCAAGACAGAACCTGCCAGCCCCAAGTCCTCCAGGTTCCCgTGGAATATCTAGTAGTAAAGAGTCCTAG MRARRGLLRLPRRSLLAALFFFSLSSSLLYFVYVAPGI|deetmaqnselplvaglgcgslt* 21BR001 ENSG00000277258.5 ENSG00000073861.3 -/- +/- chr17:38747879 chr17:47736315 5'UTR/splice-site intron duplication/5'-5' 2 0 0 12 10 medium . . . . . ENSG00000277258.5 ENSG00000073861.3 ENST00000616199.4 . upstream downstream . ^(GTGGCTGCAGGCTCGAGCTGGGGTCACTCGGCGGCCAGTGTGCGCAGGTCTCCTGGTCGCCGGCCAGAGGGCGAAAGCATTCACCCGAGGCCCCCAGCTTCGCGGCTGCCTTGGCTGCGAGCAACGAGGGAAGAGGAGGCAGGCGCTCCAAAACTGGGCGAAGATTCCTATCCTAATTTCTAACTCGAGCCTCCCACCGTCAGTGCGCTTAATGGCGCTGCTGGCCGGATGGATAATCGAGCTCTCTGGAGGGACAGACGCGGCCGCCATCCCTAATAAATCGTGAATAACGAATGAGGGAATCGACCATCCTCATGAGGCCCACGGGCGTCCAGTAACGCAGTATCGATTCGCTTCCCCGGCGTCGGCCTCACCGCTACTCCCGGCGTTTCCAAGCCTCCCTCCTCGTTCTCTCCCTCCTGCCGGAGCCACTGCGGACCGGAGCCCCAGCGCCAG___GTTTCTCCCCTCCCGCCGCCCGGGCGAGCGACACGGCTGCGGCCCCCCTCCCCTCCCTTCCCTCCCTCCCTCCCATCCCCCCCTCCCCGAGACCCACCGGACCCCGAACCCAG___ATGGC)CGAAACGGGCTCCCCGTCTTAACGATTTGGCGTCTCCCTCGACCACCACCTCTTTGTGCAGCAGCCCCCGGGCAGACCCTGTTCCGAG|TTGCAGACAGAAGAAGCGAAGTGAGGATGCAGAAACAAGATTGGACCCATATTGACAACTGTGGAAG . 21BR001 ENSG00000020922.13 ENSG00000108823.16 -/- +/+ chr11:94429911 chr17:50167947 CDS/splice-site CDS/splice-site translocation 2 0 0 81 8 medium in-frame . |Sarcoglycan_alpha/epsilon(100%) . . ENSG00000020922.13 ENSG00000108823.16 ENST00000323929.8 ENST00000344627.10 upstream upstream . ^(GGACGCCGTTCTCTCCCGCGGAATTCAGGTTTACGGCCCTGCGGGTTCTCAGAG___AATTTCTAGAATTTGGAATCGAGTGCATTTTCTGACATTTGAGTACAGTACCCAGGGGTTCTTGGAGAAGAACCTGGTCCCAGAGGAGCTTGACTGACCATAAAAATGAGTACTGCAGATGCACT___TGATGATGAAAACACATTTAAAATATTAGTTGCAACAGATATTCATCTTGGATTTATGGAGAAAGATGCAGTCAGAGGAAATGATACGTTTGTAACACTCGATGAAATTTTAAGACTTGCCCAGGAAAATGAA___GTGGATTTTATTTTGTTAGGTGGTGATCTTTTTCATGAAAATAAGCCCTCAAGGAAAACATTACATACCTGCCTCGAGTTATTAAGAAAATATTGTATGGGTGATCGGCCTGTCCAGTTTGAAATTCTCAGTGATCAGTCAGTCAACTTTGGTTTTAGTAA___GTTTCCATGGGTGAACTATCAAGATGGCAACCTCAACATTTCAATTCCAGTGTTTAGTATTCATGGCAATCATGACGATCCCACAGGG___GCAGATGCACTTTGTGCCTTGGACATTTTAAGTTGTGCTGGATTTGTAAATCACTTTGGACGTTCAATGTCTGTGGAGAAGATAGACATTAGTCCGGTTTTGCTTCAAAAAGGAAGCACAAAGATTGCGCTATATGGTTTAG___GATCCATTCCAGATGAAAGGCTCTATCGAATGTTTGTCAATAAAAAAGTAACAATGTTGAGACCAAAGGAAGATGAGAACTCTTGGTTTAACTTATTTGTGATTCATCAGAACAG___GAGTAAACATGGAAGTACTAACTTCATTCCAGAACAATTTTTGGATGACTTCATTGATCTTGTTATCTGGGGCCATGAACATGAGTGTAAAATAGCTCCAACCAAAAATGAACAACAGCTGTTTTATATCTCACAACCTGGAAGCTCAGTGGTTACTTCTCTTTCCCCAGGAGAAGCTGTAAAGAA___ACATGTTGGTTTGCTGCGTATTAAAGGGAGGAAGATGAATATGCATAAAATTCCTCTTCACACAGTGCGGCAGTTTTTCATGGAGGATATTGTTCTAGCTAATCATCCAGACATTTTTAACCCAGATAATCCTAAAGTAACCCAAGCCATACAAAGCTTCTGTTTGGAGAAG___ATTGAAGAAATGCTTGAAAATGCTGAACGGGAACGTCTGGGTAATTCTCACCAGCCAGAGAAGCCTCTTGTACGACTGCGA___GTGGACTATAGTGGAGGTTTTGAACCTTTCAGTGTTCTTCGCTTTAGCCAGAAATTTGTGGATCGGGTAGCTAATCCAAAAGACATTATCCATTTTTTCAGGCATAGAGAACAAAAGGAAAAAACAG___GAGAAGAGATCAACTTTGGGAAACTTATCACAAAGCCTTCAGAAGGAACAACTTTAAGGGTAGAAGATCTTGTAAAACAGTACTTTCAAACCGCAGAGAAG___AATGTGCAGCTCTCACTGCTAACAGAAAGAGGGATGGGTGAAGCAGTACAAGAATTTGTGGACAAGGAGGAGAAAGATGCCATTGAGGAATTAGTGAAATACCAGTTGGAAAAAACACAGCGATTTCTTAAAGAACGTCATATTGATGCCCTCGAAGACAAAATCGATGAGGAG___GTACGTCGTTTCAGAGAAACCAGACAAAAAAATACTAATGAAGAAGATGATGAAGTCCGTGAG___GCTATGACCAGGGCCAGAGCACTCAGATCTCAGTCAGAGGAGTCTGCTTCTGCCTTTAGTGCTGATGACCTTATGAGTATAGATTTAGCAGAACAGATGGCTAATGACTCTGATGATAGCATCTCAGCAGCAACCAACAAAGGAAGAGGCCGAGGAAGAGGTCGAAGAGGTGGAAGAGGGCAGAATTCAGCATCGAGAGGAGGGTCTCAAAGAGGAAGAG___CAGACACTGGTCTGGAGACTTCTACCCGTAGCAGGAACTCAAAGACTGCTGTGTCAGCATCTAGAAATATGTCTATTATAGATG___CCTTTAAATCTACAAGACAGCAGCCTTCCCGAAATGT)CACTACTAAGAATTATTCAGAG___GTGATTGAGGTAGATGAATCAGATGTGGAAGAAGACATTTTTCCTACCACTTCAAAGACAGATCAAAG___GTGGTCCAGCACATCATCCAGCAAAATCATGTCCCAGAGTCAAGTATCGAAAGGGGTTGATTTTGAATCAAGTGAG|GTCACAGCCTACAATCGGG(ACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAG___GCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGG___GCTGAAGAGAGACCTGGCTACCTCCGA___CATCCAGATGGTCCACCACTGCACCATCCACGGGAACACAGAGGAGCTGCGGCAGATGGCGGCCAGCCGCGAGGTGCCCCGGCCACTCTCCACCCTGCCCATGTTCAATGTGCACACAGGTGAGCGGCTGCCTCCCCGCGTGGACAGCGCCCAGGTGCCCCTCATTCTGGACCAGCACTGACAGCCTAGCCAG___TGGTTCCAGGTCCAGCCCTGACTTCATCCTCCCTTCTCTGTCCACACCACGAGTGGCACATCCCACCTGCTGATTCCAGCTCCTGGCCCTCCTGGAACCCAGGCTCTAAACAAGCAGGGAGAGGGGGTGGGGTGGGGTGAGAGTGTGTGGAGTAAGGACATTCAGAATAAATATCTGCTGCTCTGCTCACCAATTGCTGCTGGCAGCCTCTCCCGTC)$ MSTADALDDENTFKILVATDIHLGFMEKDAVRGNDTFVTLDEILRLAQENEVDFILLGGDLFHENKPSRKTLHTCLELLRKYCMGDRPVQFEILSDQSVNFGFSKFPWVNYQDGNLNISIPVFSIHGNHDDPTGADALCALDILSCAGFVNHFGRSMSVEKIDISPVLLQKGSTKIALYGLGSIPDERLYRMFVNKKVTMLRPKEDENSWFNLFVIHQNRSKHGSTNFIPEQFLDDFIDLVIWGHEHECKIAPTKNEQQLFYISQPGSSVVTSLSPGEAVKKHVGLLRIKGRKMNMHKIPLHTVRQFFMEDIVLANHPDIFNPDNPKVTQAIQSFCLEKIEEMLENAERERLGNSHQPEKPLVRLRVDYSGGFEPFSVLRFSQKFVDRVANPKDIIHFFRHREQKEKTGEEINFGKLITKPSEGTTLRVEDLVKQYFQTAEKNVQLSLLTERGMGEAVQEFVDKEEKDAIEELVKYQLEKTQRFLKERHIDALEDKIDEEVRRFRETRQKNTNEEDDEVREAMTRARALRSQSEESASAFSADDLMSIDLAEQMANDSDDSISAATNKGRGRGRGRRGGRGQNSASRGGSQRGRADTGLETSTRSRNSKTAVSASRNMSIIDAFKSTRQQPSRNVTTKNYSEVIEVDESDVEEDIFPTTSKTDQRWSSTSSSKIMSQSQVSKGVDFESSE|VTAYNRDSFDTTRQRLVLEIGDPEGPLLPYQAEFLVRSHDAEEVLPSTPASRFLSALGGLWEPGELQLLNVTSALDRGGRVPLPIEGRKEGLKRDLATSDIQMVHHCTIHGNTEELRQMAASREVPRPLSTLPMFNVHTGERLPPRVDSAQVPLILDQH* 21BR001 ENSG00000141298.19 ENSG00000263718.2 -/- -/- chr17:29929938 chr17:77258348 CDS/splice-site exon/splice-site duplication 0 2 0 166 26 medium out-of-frame . . . . ENSG00000141298.19 ENSG00000263718.2 ENST00000540801.6 ENST00000581657.1 upstream downstream . ^(ATTGTGCCCCGCAGCTGCGGAACCGCCCGCCCGCCGCCCGTTCGGAGCGTCAGTCGGCGACAGTCTGGTGGTGGGTGCGGAGTCTGCGGCCGTTCCCGCGGCCTCCTCCTCCTCCCCGTTCCCTTCACCCCCACCCCGCACCCCTTTCCCCATCCCGGCTCCGTCACCCTCCCGTCCCCCACACTCAGGACAA)GAATGCCCTGCCCGGAACAACCCAGCAGCGCCTAGATGGCTTTGGTCACGGTCCAGCGGTCACCTACCCCCAGCACCACCTCCAGCCCCTGCGCCTCG|CAGGCTGAGGGTCCACCTGGAAGATACCAAGGCGATGGGGCTTGGTGCCGTCCTGAGTTTGCAGGCCGAGGCTCACGCTGCTCTGCCAACACTCACATACAGTATCCGC___ATCAAAGGCTGAGTGTGGCCAAGTGAAGGAGAAAGCCCCTGTGCGGGCACCTGCAGAGGCGTCCACCCTGCCCAGGGGCCTCTGGGGACGCAGCGCCCACCCTGCCCAGGGGCCTCTGGGGACGCAGCGACC(CACTGACCAGTGAGCGCAGATGAGCGACTGCACCTCTCTGCTTCAGCTCTTCATGGCCAGATGGGAGGACAATCCCCACCTTGCAAGGTGGCGTTAAGGACTGAGAAAGAACGAGCACCAGGCCTGGCCCCATGAGCACTGCTGGGTCTGGATCCAGGCGCCGTCCACCTTCCACCCGGCAGCACTAATGCTTCCCTCCCCGGCTGCACTGGCCCTTATCTGGGGGTCAGGAACTCACGTGCTGAATAAAGAGCAACTCTTTTCCAGA)$ MALVTVQRSPTPSTTSSPCAS|qaegppgryqgdgawcrpefagrgsrcsanthiqyphqrlsvak* 21BR002 ENSG00000162522.11 ENSG00000116560.11 +/+ -/+ chr1:32768775 chr1:35187918 CDS/splice-site intron deletion/5'-5' 32 27 6 280 152 high out-of-frame . . . . ENSG00000162522.11 ENSG00000116560.11 ENST00000401073.7 . downstream upstream duplicates(23),mismatches(3) ^(CTCCGCGCCCGCTCGGCCTCCGCCGCCCAAACTTTTCTCCGGGCGCGCGTCCCCGGCGGCCGCCCCCGGCATGGGCACCGCGCCGCAGGGGGCCTGACCCGCCGCCCGCTCCGCCCCCGCCTGCCATGGCGGCCCGCGCGCCCCCCGCCGCACCTGCGGCCGAGGAGCCGGGGAACCCGGGCGGCCCCCCGCGCAGGAAGAAGTCCCGCTCCGGCGCGTCCGGCCTCCGCCGCGCCTTCAGCTGGCTGCGGGGCAAGCGGCGCAAGAAGAAGGCGGCGGGGGCCGAGGGCGCCGAACCGGCCGCCCCCCGGGCCAAGAAGGCGGAGGACAAGGCCAAGAGGGCCA)AGGGCAAAGGCCGAG___GCTCTGCCAAGGCTGAtAATGACAAACATCTAAGTGTAGGGCCTGGCCAGGGGCCAGGGTCTGCAGTGGATGAGCACCAGGACAACGTCTTCTTTCCCAGTGGGCGACCCCCCCACCTGGAAGAGCTGCACACTCAGGCCCAGGAGGGGCTCCGCTCCCTACAACACCAAG___AGAAACAGAAACTGAACAAGGGTGGCTGGGACCATGGAGACACCCAGAGTATCCAG___TCCTCCCGGACGGGGCCGGATGAAGACAACATCTCCTTCTGCAGTCAGACCACATCCTACGTGGCTGAGAGCTCCACAGCAGAGGACGCGCTCTCCATCCGCTCGGAGATGATCCAGCGCAAAG|GTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAGAAATACCCATCAGGTACATAACTGAAGTGTTATCCACATCTTTTAGAATTCAATGTGAAGAAACC MAARAPPAAPAAEEPGNPGGPPRRKKSRSGASGLRRAFSWLRGKRRKKKAAGAEGAEPAAPRAKKAEDKAKRAKGKGRGSAKAdNDKHLSVGPGQGPGSAVDEHQDNVFFPSGRPPHLEELHTQAQEGLRSLQHQEKQKLNKGGWDHGDTQSIQSSRTGPDEDNISFCSQTTSYVAESSTAEDALSIRSEMIQRK|gtckfyrqlqlegskg* 21BR002 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 9 26 1 103 88 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(12),mismatches(1) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAA)GGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 21BR002 ENSG00000213958.2(12786),ENSG00000150722.10(10604) ENSG00000150722.10 ./+ +/+ chr2:181975264 chr2:182061442 intergenic CDS/splice-site deletion/read-through 9 15 0 60 118 high . . . . . . ENSG00000150722.10 . ENST00000409702.1 downstream upstream duplicates(11),mismappers(2),mismatches(2) CTAAGGACACAGTGAAAAATGTACCGAGACCTTGGAGAGCCACGAACCAAGAAACTTCAGAAACCTCTGATATCTGATCAAGAGTTAAGAGACGTCAGAATCATCACAACTGACAAAAG___AATGTTTTCTCTCTTCAAGATTCTCTTTTGAAAGACATCTAAAAAG|AAATAGATGACAAGAGGGGGCCCAACACACAAGGGGAA___TTACAGAATGCATCCCCTAAGCAAAGGAAGCAGAGTGTGTACACACCACCCACCATAAAAG___GGGTTAAGCATCTGAAAGGCCAGAATGAATCAGCATTCCCTGAAGAAGAAGAAGGCACCAATGAAAGAGAGGAGCAGCGGGACCATTAATTACTGGTCTGCAG?AAGAAGGCTTCTTGGAAAT(AACTGAACTATTAACTTTTCTGAGTATACCATGGAATTCCACTGCTTGACTTCCAGAAGCATCCTCCATCTCTGCACCCCACACTCATACAGTAGCTATGCACATCCTGGAAGTCTCCTTGACTGAACTTTAGAACTAA___GTGCAAAATGAGTTGATAACAACCAGAAGTTGACTTGTTAGTGCTGTGCTTCTACTCGAGCTTGGAAAAATCCCAACACAAAACAAACACCACCTCCGATTCCATCATGATGCCACGTTGCTTTCTACTGGATTACCTCCTGAAGCACTTTAGATATTTTATACATAAGTATTGACATGTTTTTCAGAAGCTGTTTCTTCACTTATTGCTTTTTTCTAATAATTTTTATTACACCATTTGCCAAGTCCTTCCCTTTGGTTTTAGTTTATTCCTCTCTACAACTAAAAAAGGGATCTTGAGTTTAGGTACATTTTAAGTGATTCATTTTTAGTTTTTCTAATTCTGGAATCTGAGCCTTCTCTTACAACAGGGAGTCTTTCAAAAACATTTTTTTGTTTCTTTTTCAAATTCCACTGTGTTTATTTATTGCCTTGTTTCTTTTTCAAATTCCATTGGTCTTGATTTAATTTAGTTCCACAGATTTTACTGATAGTCTACTACCTGCCAACTACTGAATTATGCAGCAGACTTATAAAAATAAAAAGGCTATTTTATTGTTATTGCC)$ . 21BR002 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 14 7 0 97 95 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(7),mismatches(3) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACC)TGGGACATTTGAATTTGAGTATGCATCcCGATGGAAGGCTCTaGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCA MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 21BR002 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 4 14 0 25 33 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream duplicates(2),low_entropy(1) AGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGcTGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGATGAAGGCCTCATCATTCATG___...GTTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGC(CTTCCCAAGAGCCTCCAGTAGACGACAAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 21BR002 ENSG00000178222.13 ENSG00000250259.1(29421),ENSG00000178222.13(13085) -/- ./- chr4:1073599 chr4:1058393 CDS/splice-site intergenic deletion/read-through 5 9 0 21 30 high out-of-frame . zinc-RING_finger_domain(100%)| . . ENSG00000178222.13 . ENST00000433731.7 . upstream downstream duplicates(2) ^(GCAGAGCTGCCCGCCTTCGGGCCCTGCGCGGGGAGGCTGGTCCCAACCTTGCGTGGGCTTCGCGTGGGCCCGGCCTCGCCGCTGCGGTCGCCCGCCTGGCATGGCCAACTGGGTGTTCTGTAATCGCTGCTTCCAGCCGCCCCACAGGACGTCGTGCTTCAGCCTCACCAACTGCGGGCACGTGTACTGCGACGCCTGCCTCGGCAAAG___GTAAAAAGAATGAATGCTTGATTTGTAAAGCTCCTTGTCGTACAGTTTTGCTTTCAAAGCAT___ACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAG___ATTTTAGAATTTCAAGAAAAACACAGGAAGAGATTGTTAGCCTTCTATAGAGAAAAG___ATTTCTAGGTTGGAAGAATCCCTTAGGAAGTCAGTGCTGCAGATAGAACAACTACAAAG___TATGAGATCATCACAACAAACAGCTTTCAGCACAATAAAAAGTTCAGTTTCAA___CAAAACCACACGGATGCCTGCTGCCACCTCACTC)ATCAGCCCCCGACAG___ACTGGAGTCGATGGAAGTTGATCTCTCTCCTTCTCCGATTAGAAAA___TCTGAGATAGCAGCCGGCCCTGCGAGAATCTCCATGATTAGTCCACCTCAAGATGGACGAATGG|GCAGCGTCTCCTCCCTGGGCCCCGAGCATCCCGGCCTGACAACGAGTCAGAGGAGCATGGGAAAGCCTCTCAG___GATTCCACCTCTGCAAATTCCCTACAAGGGACCCCCACTAACGCCAACACCACAGTTACCAGGGAGAGCAGGAAGAGGGGACTCTCCAAGCTTCGGGGGCTCCCAGGCCAGGCTGCCCCCCCGGCCGCCCATCAGCATCtCCAGCC...___TGTGAAGTTTTGAAGTCATTTCAAAGACAAAGTTGTGTTTTTACCGCGACTTCCATGCCTCCTGCGGGACCTGCTCACCTTGGGGCAGTGACACCTGAAAGATGAGCACCCAGCCACCCGCTCTGCCCCCTTCCAG MANWVFCNRCFQPPHRTSCFSLTNCGHVYCDACLGKGKKNECLICKAPCRTVLLSKHTDADIQAFFMSIDSLCKKYSRETSQILEFQEKHRKRLLAFYREKISRLEESLRKSVLQIEQLQSMRSSQQTAFSTIKSSVSTKPHGCLLPPHSSAPDRLESMEVDLSPSPIRKSEIAAGPARISMISPPQDGRM|gsvsslgpehpglttsqrsmgkplripplqipykgppltptpqlpgragrgdspsfggsqarlpprppisiss 21BR002 ENSG00000213958.2(12786),ENSG00000150722.10(10604) ENSG00000150722.10 ./+ +/+ chr2:181975264 chr2:182061442 intergenic CDS/splice-site deletion/read-through 8 5 0 60 118 high . . . . . . ENSG00000150722.10 . ENST00000409702.1 downstream upstream duplicates(5),mismatches(1) CTAAGGACACAGTGAAAAATGTACCGAGACCTTGGAGAGCCACGAACCAAGAAACTTCAGAAACCTCTGATATCTGATCAAGAGTTAAGAGACGTCAGAATCATCACAACTGACAAAAG___AATGTTTTCTCTCTTCAAGATTCTCTTTTGAAAGACATCTAAAAAG|AAATAGATGACAAGAGGGGGCCCAACACACAAGGGGAA___TTACAGAATGCATCCCCTAAGCAAAGGAAGCAGAGTGTGTACACACCACCCACCATAAAAG___GGGTTAAGCATCTGAAAGGCCAGAATGAATCAGCATTCCCTGAAGAAGAAGAAGGCACCAATGAAAGAGAGGAGCAGCGGGACCATTAATTACTGGTCTGCAGCAAGAAGGC(TTCTTGGAAATAACTGAACTATTAACTTTTCTGAGTATACCATGGAATTCCACTGCTTGACTTCCAGAAGCATCCTCCATCTCTGCACCCCACACTCATACAGTAGCTATGCACATCCTGGAAGTCTCCTTGACTGAACTTTAGAACTAA___GTGCAAAATGAGTTGATAACAACCAGAAGTTGACTTGTTAGTGCTGTGCTTCTACTCGAGCTTGGAAAAATCCCAACACAAAACAAACACCACCTCCGATTCCATCATGATGCCACGTTGCTTTCTACTGGATTACCTCCTGAAGCACTTTAGATATTTTATACATAAGTATTGACATGTTTTTCAGAAGCTGTTTCTTCACTTATTGCTTTTTTCTAATAATTTTTATTACACCATTTGCCAAGTCCTTCCCTTTGGTTTTAGTTTATTCCTCTCTACAACTAAAAAAGGGATCTTGAGTTTAGGTACATTTTAAGTGATTCATTTTTAGTTTTTCTAATTCTGGAATCTGAGCCTTCTCTTACAACAGGGAGTCTTTCAAAAACATTTTTTTGTTTCTTTTTCAAATTCCACTGTGTTTATTTATTGCCTTGTTTCTTTTTCAAATTCCATTGGTCTTGATTTAATTTAGTTCCACAGATTTTACTGATAGTCTACTACCTGCCAACTACTGAATTATGCAGCAGACTTATAAAAATAAAAAGGCTATTTTATTGTTATTGCC)$ . 21BR002 ENSG00000173218.15 ENSG00000248599.2 +/+ +/+ chr1:115651484 chr8:101054498 CDS/splice-site exon/splice-site translocation 1 2 0 8 9 high out-of-frame . . . . ENSG00000173218.15 ENSG00000248599.2 ENST00000355485.7 ENST00000665627.1 downstream upstream duplicates(3) ^(AGTGCAGCGGCGGCGGCGGCGGGGCTCTGCCTCTCCAGGAGCCCAGCGCAGGCCGCAGAGCCGGGGCCGCTGTGAGCCGAGACCGCGGGCCGCGGAGCTCGGGCGGCCGGCGCGGAG___AATTTGTTCCTGTTGAAGAGTGGCTCCTCTTCTAATTTCCAGACTCCTTGAGGTTTTAGGAGTCTGGTAGGTGAAATTTTCTACCTCTAAG)GAGAAACAaTACCTGCTCCTTCCTCAAGCGCAAGCCCTCCATTGCTATGGATACCGAATCCACTTATTCTGGATATTCTTACTATTCAAGTCATTCGAAAAAATCTCACAGACAAGG|ATAACCCATGGGCTCCTGAGAGCAGAGATTGTGACTTACTCATCTTTGATGTAGCCAAGTTCTAACAAACCTAAATGTGCAG___CCATTTGTAAGAGAGGATCATGGAATGAATACGGGCATTGAGTCAAGCAGTCTGTGTTCCACTGGCGGTGTGACCTGGGGCAGGCCATTTCACCTCACTGAGCC(TTAGTTTCCTCACCTGTAAAATGTGAAAAATATCACCTTCCTTACCAGGCTTTTCTGAGGATTTAATGACATCATGTTCAGTGCCCAGTATGGGTGGATAATACCCAGGAGTTTCCTCCTCTTCTCCTCCTAAGTTGACTTGATGCCCCCCGCTGAAGATCATGGCTGAACTGGCTCAATTCGGATCCAGGACTCCTGGCTTTGTCTCTTCCCTAGTTGCCCACCACACCCATGGACACCCTTAGGTAGTTTATCCTTTTGGGACAACTGGATTTATTAGAAAAGGGTATTCTGGGGTGGAATAAGGCCCTTTTCAGTCCCCATGGAGCCTTTTTGGAAGATGAAGTTCTCAAACCCACAAGAGAATTCATAAGACGAGCACACCACCCACAGTTAGGTTTCCCTCTCAAGTGCTTTATCTCCACGTGGGGCAAATAGCTCTTTGTCTGCATATGTTATTGGAGCTTTTGGAGTCCAGCCTTCAGAAGAGCTCTAATTTTTGGATTCATATCAGTTTATTAGAGAAGCCTAGTTCTAAGGATTAGCAAATGGGTAGGTGCTCAGCCAGCCCAGAACAAGCAGAGCCATGACAGAAGTTTCTGGAATCTCACAGAGTCGGTGTCTTCATGGACTCAGGGGGCCTAAATCCAATAGCCTGGATTTGTCACTTTCCCTTATTCCCTTATCAAACTCTTCCCTTTTGGACATCAGAGAAGGAAAGTACTTCCTGTAAGGGGGCAATTTGCAAAGCTTCATGGAAGTGGCATTTGAGTGTGGCCTTAAAGGATGTGTAGGATTGGGAACCATAGATATTTAGAGGAAGGCATTCCTGGCAGAAGGAACAGCAGCAAAACACAGAAGTGGAAATTAGTAGCAGCATTAATGGAGAATAATTTGGGGAATAAGATATACAAATGGAATAATAAAAATAGCATTAATTAAACATTGTGGGAGTCATTCTGTAAGATGGCCCCTGGTGATCTCCGCCTCCTGTTCTTCATGCCTTATGTAACCGCTCTCCTTGAGTGTGGTCTGGAATTACTGACTCACTTTCAATGCACAGAATGTATCAGAAGTAATGGGATATTCCTTCTGAGAATAGATTATAAAAAAAGAGTGTGGCTTCCTTCCTGGC)$ MDTESTYSGYSYYSSHSKKSHRQg|* 21BR002 ENSG00000127914.17 ENSG00000234520.6 +/+ -/+ chr7:91941147 chr7:112954717 CDS/splice-site exon deletion/5'-5' 1 2 0 2 7 high out-of-frame . . . . ENSG00000127914.17 ENSG00000234520.6 ENST00000356239.8 . downstream upstream . ^(GTGTTTACGTGGAGACGAAGATGGCGGCGGCGGCGGCGGTGACGGCGCTTCCCGTGCGGCTGAGGACGATCCGCCAGTGAGCGCGGAGACTGCTTCCACTTCGGGCGGGGGAGCGCCGGACCGAATCGGCTCTCTAGGCCGT)GGAGCTTGCCGTCCCACCTCCGTCCAAATCGACCTTTCCTTTCTATCCCCAACCACCCCTCAACCCCTGTTTTCCCCTGCCTTCCTTGCAGAGGCCATGGAGGACGAGGAGAGACAGAAGAAGCTGGAGGCCGGCAAAGCCAAG|TGACTCAAAGCAGCAGAAGCTTTTTAGGATGTTCAGCATCAATGAG___AGAGAAGAAAAAGGAATTGCTTTCTGCCTCCAAGCTGAACTTGGAACCTAGGTCTTTCTGAGCACGATGTTGTCCTACGTCCCCAGAAGGAGCCAAGGAGGCAGCTATGAATGTCAG MEDEERQKKLEAGKAK|* 21BR002 ENSG00000104325.7(930),ENSG00000104327.7(4045) ENSG00000104325.7 ./+ +/+ chr8:90054563 chr8:90051909 intergenic 3'UTR duplication 26 1 0 84 218 medium . . . . . . ENSG00000104325.7 . ENST00000220764.7 downstream upstream duplicates(6),mismatches(3) TTGTTGCCCAAACTGGAGTGCAGTGGCATGATCTTGGCTCACCGCAGCCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAaTAGCTGGGATTATAGGTGCACGTCACCATGCCCGGCTAATTTTTCGTAGTTTTAGTAGAAACAAGGTTTCACCATGTTAGCCAGGCTGG|CCTTCATCTTGGTTACAGAAAAGGGAATAGAAATGAAACAAATTATCTCTCATCTTTTGACTATTTCAAGTCTAATAAATTCTTAATTAACAAACATTCATTGAATATGTATTATGTGCCAGGC(CAGTGATAGCCATTGTATATTCAAAGATAAATAAAATGAAATATAGTCCTTCAAAACATTAAAAAAAAAAAAAGGAGGCATGGGGAGAGTAGGTAAAGGCTCCTCTTTACCTATTGATAGAGGTAAAAAGTACTTAGAAGTGCAGAGAGAACAGATCTTTGTGACTTGGAAAATCAGGAGAAACTCAATGGTGGCGGTAGCATTTGAGTTACATAATATACTATACCTATATTAATAGGGCCTAAAAGAAAGAAATTAGAGGATACACACTAAATATAATAGACTTTGCCTTTCCAGTATACTTTCTTTTCACTGGACTTGTGAATTATCTTCTTTGGGTAACTCAGTATTAACTCAAACCTTTAATTTTTACTAGGACCTATTTGTAGCCAGGCATTTTATTTAGTACTGAATAAGCTATAGCCGTTGCCCTTTTTAAATTCATTATCTAGCAAGATAGTCAAACTTATAAATAATTATTTATGATACATTGTGATAAGTATTATTCCAGCAGTATTTAAGTGTAGAGGAGGAAGTAATTCATTCTGTCTCCAGAGTTTGGAGAATGTGATGCCTAAGAGATAGCATGCCATCCCAGCTGTAAAAGAAGAATAGATTTCTCTGGGTAAAAGAGGTAAAGAAAGCCTATAAAATATTTTTGTATATCATTTGATTAAATTTCATCTTTGGTTTGACTAATTTGTCATCCTGAAAATCAAATAATAATGAATCCAAAGTCTCAAGTCTACAGAGCTATACTTTTGAGCCTATATTTTTAAAATGTCCATTTTGCTTTCCCAGGAGTCAGTTACAACATGTTCACTAGACTGACTATCCCCATTGCCCAAGTTGACACAAGAGGAAACCAGCTTCCATCTTACCTCATCTGAATAAATCTGCCACAAGCCCATGGAAACCCCAATTAACATTGACAGTTAATTGTGTACATAAATTACATTTATTACATTTAATTGTGTATATATAGGGGATGTTATAGGTTTGGAATAAGTGGCCCAACATTTCCAATTATACTGACTTTCACTGGGCTTTTTTTTAGGCTGTTGCACTTTTTCTCCACATGCTTGCAATACAATACTCTCAAAATAAAACGCAGACAGGTACCTAGTCTCCATTTTACCTTTAGTACTAATCCTGTGTATTAGTCTGTTCTCATGCTGCTAATAAAGACATAACCCAAACTGGGTAATTTATAAAAGAAAGAGGTTTCATTGACTCATAGTTCAGCATGGCTAGGGAGGCCTCACAATCATGGCAGAAGGTGAGTGAGGAGCAAAGTCATGTCTTACGTGGTGGCACCCAAGAGAGCTTGTGCAGGGGAACTCCCATTTATAAAACCATCAGATCTCGTGAGACTTATTCACTATCACACTATTGTGTTGATATTGTGTTCACACACCAATAATGATGGTTTATCACTCACTCCATTTCCAAACCCACCTTCCCACCCACCTCTCACCAAACACACAAAGACACACTCTTTCCCTCCACTGATTCCACCAGTATAGCCATATTTCTCTTTCTGGTTAAATTTATACTAAATGTTTACATTTATATAACTTAATAAATATTATTTTTTTCCA)$ . 21BR002 ENSG00000274265.5 ENSG00000234232.7 +/+ -/+ chr1:149176250 chr1:149698630 exon/splice-site intron deletion/5'-5' 0 3 0 216 22 medium . . . . . ENSG00000274265.5 ENSG00000234232.7 ENST00000611769.4 . downstream upstream duplicates(1) ^(GGATCACTTCCGAAACCACTTGGCCTTCAGCCCCTGCCTCGGCCAGAGGTTTCATTTTTAACTGAATATTTACCAAAGCTGAAAGCGTGCGAGGGGGGTGGGGTGGAAATAGCGGCTGCTTCTTTTCCAAGGATTTATTTAATGGGGATGT)GTTCAAGGCAAGACCGAATTCAGAAGGATATCGACGTCGTGATCCAGAAGTCCAGAGCTGAGGACTGCCTGTTTGCAG|GACAACTGTGCAGACTACAAAGCTTCGGAAAACCGGAGAGGCTGAGTCGACTAATCGTGTTGTTGCACGTTAGAAACGCTTGCATTGCCTGACTCTGAAACCAGAAGGGCGGCCGAATGGCCTTCACCCTCCATTAACCCTCGCCTCCTTCAGAAGCCAGTGCCTCTGGAAATGCCTGGATCTGCGACCCCAGC . 21BR002 ENSG00000161551.14 ENSG00000269483.2(12652),ENSG00000283236.1(4275) -/- ./- chr19:51877282 chr19:51855967 CDS/splice-site intergenic deletion/read-through 2 1 0 103 90 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 . ENST00000301399.11 . upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTT)GTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|ATCTGCATTACCGTTGGAAAACAGCAGCCTCAGAACCACAGTAGCCATGAAGACCATCAGCCTTCAACCACCACCCTTGTATCAGAGGAGACAAATAAGCTTGGAAATCCTCAAAAAGCCTCATCCTCAGAGCAATGTCAT MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|dlhyrwktaasepq* 21BR002 ENSG00000121774.18(1513),ENSG00000203325.3(6901) ENSG00000253238.3 ./+ +/+ chr1:32045390 chr8:80482608 intergenic exon/splice-site translocation 0 2 0 36 9 medium . . . . . . ENSG00000253238.3 . ENST00000644465.1 downstream upstream . GTGACTGAAAACTCCTGAGGCATTTCCTGGACTAGAATGGGTAGTGAAGACCCATGTCAG|ACAGAAAGGCTACTGTCCCTAGAGCCTAAAGAGGCAAAGTACCTCTACCAAGGCAGTGAACGACAGTCAAGTTTGACCCTCAAAGATCAGCTGGGCCAGGTATAGAAG___ATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCTGGTTCAAGTGATTCTTCTACCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGAGCGCC(ACCACACCTGGCTAATTTTTTGAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCAGACCTCATGATCCGCCCGTCTCGGCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCAAAATAAAAATTTTTAAGTCCATTTTCATTTCCCATCACCTTGATCCTAGATAAGTAATTAACTTCAGTAACTCTTCCCTCTTTTTATGGGGGTGGAGGCTGTGGTGATTAACATATAATAAATGTATTTATTTTCAAAATGCCTAGAATGAAAAAAAAACACGCATTAAAAACAGAGCACAAGTATTATTATGGCATTCTTCCATATGTGGCACATATTATACAGCCTCACTTGGCAGAGTTCTCTTATTTCTTAAGGGTACGAATTAGGTCAAGATCAGACTCCACTGTCTTAAGCTTCCCAGCAACTAAAACAAAGCAGGACAAAACAAACAAACAAACAAACAAAAACACCCTACAACTGTACCCACCTGAAGAACTATATCAGAATTTCAAGCTCTTGGTCACTGGTGGCCAGGTGACAATATGTTTATTACCGGAAAAATAACTCAAAGCCAAAA)$ . 21BR010 ENSG00000134258.17(14149),ENSG00000277141.1(18103) ENSG00000134258.17 ./- -/- chr1:117225109 chr1:117170171 intergenic CDS/splice-site deletion/read-through 15 31 1 99 253 high . . |Immunoglobulin_V-set_domain(100%) . . . ENSG00000134258.17 . ENST00000369458.8 upstream downstream duplicates(1),low_entropy(2) GTAGCAAAGTACAATCCTCCCGAGACCTTAGGGACAGCAAATATTGGGAACATTTCATCCTCCATCATCGTCCTTTCTGTTGATGTGCAGCTTTGAAAAAGCACACACCTGGAGCCAGAAGCAGGCTGGGGAGCCCATCTCACCAG|CATAATTAGCATCATCATTATTCTGGCTGGAGCAATTGCACTCATCATTGGCTTTGGTATTTCAG___GGAGACACTCCATCACAGTCACTACTGTCGCCTCAGCTGGGAACATTGGGGAGGATGGAATCCTGAGCTGCACTTTTGAACCTGACATCAAACTTTCTGATATCGTGATACAATGGCTGAAGGAAGGTGTTTTAGGCTTGGTCCATGAGTTCAAAGAAGGCAAAGATGAGCTGTCGGAGCAGGATGAAATGTTCAGAGGCCGGACAGCAGTGTTTGCTGATCAAGTGATAGTTGGCAATGCCTCTTTGCGGCTGAAAAACGTGCAACTCACAGATGCTGGCACCTACAAATGTTAT(ATCATCACTTCTAAAGGCAAGGGGAATGCTAACCTTGAGTATAAAACTGGAG___CCTTCAGCATGCCGGAAGTGAATGTGGACTATAATGCCAGCTCAGAGACCTTGCGGTGTGAGGCTCCCCGATGGTTCCCCCAGCCCACAGTGGTCTGGGCATCCCAAGTTGACCAGGGAGCCAACTTCTCGGAAGTCTCCAATACCAGCTTTGAGCTGAACTCTGAGAATGTGACCATGAAGGTTGTGTCTGTGCTCTACAATGTTACGATCAACAACACATACTCCTGTATGATTGAAAATGACATTGCCAAAGCAACAGGGGATATCAAAGTGACAG___AATCGGAGATCAAAAGGCGGAGTCACCTACAGCTGCTAAACTCAAAGGCTTCTCTGTGTGTCTCTTCTTTCTTTGCCATCAGCTGGGCACTTCTGCCTCTCAGCCCTTACCTGATGCTAAAATAATGTGCCTCGGCCACAAAAAAGCATGCAAAGTCATTGTTACAACAG___GGATCTACAGAACTATTTCACCACCAGATATGACCTAGTTTTATATTTCTGGGAGGAAATGAATTCATATCTAGAAGTCTGGAGTGAGCAAACAAGAGCAAGAAACAAAAAGAAGCCAAAAGCAGAAGGCTCCAATATGAACAAGATAAATCTATCTTCAAAGACATATTAGAAGTTGGGAAAATAATTCATGTGAACTAGACAAGTGTGTTAAGAGTGATAAGTAAAATGCACGTGGAGACAAGTGCATCCCCAGATCTCAGGGACCTCCCCCTGCCTGTCACCTGGGGAGTGAGAGGACAGGATAGTGCATGTTCTTTGTCTCTGAATTTTTAGTTATATGTGCTGTAATGTTGCTCTGAGGAAGCCCCTGGAAAGTCTATCCCAACATATCCACATCTTATATTCCACAAATTAAGCTGTAGTATGTACCCTAAGACGCTGCTAATTGACTGCCACTTCGCAACTCAGGGGCGGCTGCATTTTAGTAATGGGTCAAATGATTCACTTTTTATGATGCTTCCAAAGGTGCCTTGGCTTCTCTTCCCAACTGACAAATGCCAAAGTTGAGAAAAATGATCATAATTTTAGCATAAACAGAGCAGTCGGCGACACCGATTTTATAAATAAACTGAGCACCTTCTTTTTAAACAAACAAATGCGGGTTTATTTCTCAGATGATGTTCATCCGTGAATGGTCCAGGGAAGGACCTTTCACCTTGTCTATATGGCATTATGTCATCACAAGCTCTGAGGCTTCTCCTTTCCATCCTGCGTGGACAGCTAAGACCTCAGTTTTCAATAGCATCTAGAGCAGTGGGACTCAGCTGGGGTGATTTCGCCCCCCATCTCCGGGGGAATGTCTGAAGACAATTTTGGTTACCTCAATGAGGGAGTGGAGGAGGATACAGTGCTACTACCAACTAGTGGATAGAGGCCAGGGATGCTGCTCAACCTCCTACCATGTACAGGACGTCTCCCCATTACAACTACCCAATCCGAAGTGTCAACTGTGTCAGGGCTAAGAAACCCTGGTTTTGAGTAGAAAAGGGCCTGGAAAGAGGGGAGCCAACAAATCTGTCTGCTTCCTCACATTAGTCATTGGCAAATAAGCATTCTGTCTCTTTGGCTGCTGCCTCAGCACAGAGAGCCAGAACTCTATCGGGCACCAGGATAACATCTCTCAGTGAACAGAGTTGACAAGGCCTATGGGAAATGCCTGATGGGATTATCTTCAGCTTGTTGAGCTTCTAAGTTTCTTTCCCTTCATTCTACCCTGCAAGCCAAGTTCTGTAAGAGAAATGCCTGAGTTCTAGCTCAGGTTTTCTTACTCTGAATTTAGATCTCCAGACCCTGCCTGGCCACAATTCAAATTAAGGCAACAAACATATACCTTCCATGAAGCACACACAGACTTTTGAAAGCAAGGACAATGACTGCTTGAATTGAGGCCTTGAGGAATGAAGCTTTGAAGGAAAAGAATACTTTGTTTCCAGCCCCCTTCCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACGGTGACTGTATTACATGTTGTTATAGAAAACTGATTTTAGAGTTCTGATCGTTCAAGAGAATGATTAAATATACATTTCCTACACCA)$ . 21BR010 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 13 23 1 104 56 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream duplicates(3),low_entropy(4) ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACAT)GAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGCAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIAEGAAHSQICP|gysfrrrtlqmegmqes* 21BR010 ENSG00000213958.2(12786),ENSG00000150722.10(10604) ENSG00000150722.10 ./+ +/+ chr2:181975264 chr2:182061442 intergenic CDS/splice-site deletion/read-through 17 6 1 54 97 high . . . . . . ENSG00000150722.10 . ENST00000409137.7 downstream upstream duplicates(3),mismappers(1),mismatches(1) CTCCTTTTGGCCTAAGGACACAGTGAAAAATGTACCGAGACCTTGGAGAGCCACGAACCAAGAAACTTCAGAAACCTCTGATATCTGATCAAGAGTTAAGAGACGTCAGAATCATCACAACTGACAAAAG___AATGTTTTCTCTCTTCAAGATTCTCTTTTGAAAGACATCTAAAAAG|AAATAGATGACAAGAGGGGGCCCAACACACAAGGGGAA___TTACAGAATGCATCCCCTAAGCAAAGGAAGCAGAGTGTGTACACACCACCCACCATAAAAG___GGGTTAAGCATCTGAAAGGCCAGAATGAATCAGCATTCCCTGAAGAAGAAGAAGGCACCAATGAAAGAGAGGAGCAGCGGG(ACCATTAATTACTG___GTGCAAAATGAGTTGATAACAACCAGAAGTTGACTTGTTAGTGCTGTGCTTCTACTCGAGCTTGGAAAAATCCCAACACAAAACAAACACCACCTCCGATTCCATCATGATGCCACGTTGCTTTCTACTGGATTACCTCCTGAAGCACTTTAGATATTTTATACATAAGTATTGACATGTTTTTCAGAAGCTGTTTCTTCACTTATTGCTTTTTTCTAATAATTTTTATTACACCATTTGCCAAGTCCTTCCCTTTGGTTTTAGTTTATTCCTCTCTACAACTAAAAAAGGGATCTTGAGTTTAGGTACATTTTAAGTGATTCATTTTTAGTTTTTCTAATTCTGGAATCTGAGCCTTCTCTTACAACAGGGAGTCTTTCAAAAACATTTTTTTGTTTCTTTTTCAAATTCCACTGTGTTTATTTATTGCCTTGTTTCTTTTTCAAATTCCATTGGTCTTGATTTAATTTAGTTCCACAGATTTTACTGATAGTCTACTACCTGCCAACTACTGAATTATGCAGCAGACTTATAAAAATAAAAAGGCTATTTTATTGTTATTGCCATCCTGCTAGTAAAGATTTATTCAATTATTTATAATTAATTAAGTGGCTTCACCTATATTTCTGTTAATAATCACATTAATTATGTATGACAGGTAGGATTTATGTTATAGATAAGAAAACTAGAGTCCAAAGAAAATAAGTGTCCCCAAATGAACCAATAATCCAACAAACGCTTCCACTAACTAGCTTCTGACCTGTTTGAGTTGTGATAGATTTTAGAATAAAAAAGCCTATCCTCCTTAGGAGCCATAGACTTTTATTCTTTCTTATACTGTCTTATATATTGACTTAGAGCTAAACTTCCTCCAATTCAGACATAAAGCATAGGCAGATACTTTTGCTAATGAGGCTAAGCTGGGAAGAAAACCCTGAGTTCTACTTTAATTCTTGGGCATTGACTTCAAACTAAGATGACTTATAAGAAATAAAAGAAGTAAATTTGAAACTTTAATAAAAAAAGTACATGGTTCATTTAAAAATGTTTCCTATGTCTAAATCTATATTTTAAAAATAACCTTTATCATGTAAAATGAGAGAATTGCTGAGTTTATGACAATCTTAGGTATAACCTTTTCTTAAAGAACAAGGCATCAATCTTTAATTTGTTTCCCTTTCTTGATTTCTCATAAGTTGCAAAATAAAAATAAAAATAATTTCACAAATTGTTCATTATTATTATCCTCCCTACTTGCCCCAGGATTTAAGTACTAACTTTTACTTCCTACTCTTAGACTTTGTATTGCCAAAGAAATAAAATATGAAAAAGCATAATCACCCAGACCTACCTGCGGAATTGTGGATTATGCTGTAGATATTAGATCATTGAAAGGAACAATATACTACTTAATGAGGAGCCAAAGACAACATTCTACCTGCTGCTCCCTTCAAGCTGAGGAATGAGTTTAATTGACTTCAAAGTCCCATTATTCTCAAAAGTAGCAAAGGTACAACATGGCTTTGCATGAATCAAAGGAAGGGAACAACAAGAACTTAAAAAAATAGTTTGCAGATGGTTGAACATCTCTTTAATAATTAGAGAAGAATATCTTTTCTTTCTTTATTGTTTACAGATACCAACATTTTTCAAAGCCTTGCAGTAGATGAGTGAGTCTCCTGTTACATTTCTCCTGCAGCATATATTCTGTGGATGTGTTTTCCTAAGCAGACTAATTATATGTTGCTCTCTTCTTTTACCCTAATGAAACATAGATTTTTCTGTTTTGAATTTGTCACTTGTTTGTTACATTTGTCAAGTGTTTTAAATATTACATTGGTCCTTTATTTGCTTTTGAGAACACCCAATAGTTTAAAAATTAAAATGACATGAAGGTCAATTCTAAGACAGGAATGATACTACTAAATCCTGGACTTGCCTATGATAACAAGCTCGAGCTACACACTTTTATTGTCAGAATAAATGGAATATATAGGAAGGAGTTAATTGGAACTGGTTAGTACCTAAATAAGATTTTTCAAAGTAAGTTTTTTGTCGTATTGGCAGAACAGTGTTAAAAAATAGACATTGTCATCATAAACACCCACAACTATATCTGTAGAAGATAATTTAATGCAATATTCTGGGGAAAATACAGTTGCCAAAATTAATCTCCTTGTTTTCTTTCATTGTGCAATGTGGAGTTAAATTTTTTTTCTATTGAGCAGTGTGTGTGTGTGTTTGTGTCTATAATTTATATATGTGCTTGTATACATTTCTATATACACATGTATGTGTATGCAAAATATGTATATATACACATATATATAAAATGTACACTAAATATGTATATATGTATATTCATAAAATGTTTTGCTGTATGGAAATAAAAAAGAAGGTTTCTAAAGGAAAGATAGAGAAGAAA)$ . 21BR010 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 9 6 0 152 48 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAG)GCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCCGTAT...TCTAGTCAgTTCTTCCTGATTCTGATTCTGTGGACTGTtATGAAGATATGTAATGGTCCCAGTGTTTTGAGTCAGTAGAATATTTATGAACAGTTTATAGGTGAAGCTGAAGCCTCTATAGCTTGGCCTGTCTTCGTAGGAAACCCTGG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 21BR010 ENSG00000169851.15 ENSG00000250624.1(34971),ENSG00000251182.2(250860) +/+ ./+ chr4:30724596 chr4:30920153 CDS/splice-site intergenic deletion/read-through 4 7 0 24 15 high out-of-frame . Cadherin-like(100%),Cadherin_domain(100%),Protocadherin(100%)| . . ENSG00000169851.15 . ENST00000361762.3 . downstream upstream duplicates(1) ^(GAATGCAGGTGAGAAAAGGCACGGACTCTGCGGCTGCGAACCCAAACTTGGGCACCGCACGGTGCGCACTGCTCAGCCTTCGCCCCCGTGGGCGAAAGGCTGCTGCGGTTTCAGGCGGCTGCTTCGTGACTAATGACCTTGCGCAGAGTTGTTAAGAAAAAAGAGAAACCCGCGCTCTCCGGGGTGAGAAGGGACTGACTCTGGGCGTCTCTGAAGATGGCTCGGGCTTCTCTTTGGCGCGCCGGGGGGACCCTGACACTGACCGCTCTGTGACGCGAGTAGTCTCCCCTGCACCGTGCCCGAAGCGACGTGCCGGGGGATTTTTCATTCTCGATCTGTTGACTGGCTCCCCCGCTGCATGAGCAGAGTCGGAGTTGAGACTGGCTTGTTGCTGGCCCCAGCGCCTGGTGCAGGAAGCGACTCACGTTTGTCTGGGTGGCCGGAGCCGGAGCAGAGCCTGGGTTTGGAGTGAGTGCCTGGAACGTGAATTGGACTCAACTCGAGTAGCAGCAAAGACCAGCGGGCTGGCAGGCGGGGGAGGCTGCAGGCTCATTCCCCACCTCTTCCCAGCCCCACTGCCCGTCTGCCGGAGCGGTTCTGGCCCCTTCCGACAGAGCGGGGACTAGAGCCGGGGATTCTCCGCCCGCTGAGGGGATGACTCTGGGTTGGGGGAGCGCCGAACCCGCGGCGCGCAGTGTCCCGTGAACTGTGAGTACTGCGACTGAACGGCGGCAGGCGAGCGGGCGATTAGCACCCATTGCATGAATTATGAAACAATAACTTTCGGAAGAAGCAGGAGGAAAAAAAGAAGCATCTATCGCTGCCCTCCCACCCCCATTCCCGGCCAACTCTCCACGCCGCTTTTGCCCCCTCCCTCCCCTCCCTCTCGCTCCTTCCTTTCCGGGAGAGGGGAGAGGACTCGGGGGAGGGCAGGCGGCCGGCCCCGGAGGAGGGGGGCGCCGAGGGGGCTGTGGTTAGAAGGAGCAGTAGCAGCAGCAGCAGGAGAAGATGCTGAGGATGCGGACCGCGGGATGGGCGCGCGGCTGGTGCTTGGGCTGCTGCCTCCTCCTGCCGCTCTCGCTCAGCCTGGCGGCCGCCAAGCAGCTCCTCCGGTACCGGCTGGCCGAGGAGGGCCCCGCCGACGTCCGCATCGGCAACGTGGCTTCAGACCTGGGCATCGTGACCGGATCGGGTGAGGTGACTTTCAGCCTGGAGTCCGGTTCCGAGTACCTGAAGATCGACAACCTCACTGGCGAGCTGAGCACGAGCGAGCGGCGCATCGACCGCGAGAAGCTGCCCCAGTGTCAGATGATCTTCGACGAGAACGAGTGCTTCCTGGACTTCGAGGTGTCGGTGATCGGGCCCTCGCAGAGCTGGGTGGACCTGTTTGAGGGTCAGGTCATCGTGCTTGACATCAACGACAACACGCCCACCTTCCCGTCGCCCGTGCTCACGCTCACGGTGGAGGAGAATCGGCCGGTGGGCACACTTTACCTGCTGCCCACAGCCACCGACCGCGACTTCGGCCGCAACGGCATCGAGCGCTACGAGCTGCTCCAGGAGCCCGGAGGCGGCGGCAGCGGCGGCGAGAGCCGGCGCGCCGGGGCGGCCGACAGCGCCCCCTACCCCGGGGGCGGCGGGAACGGCGCGAGCGGCGGCGGCTCGGGAGGCTCCAAGCGGCGGCTGGACGCATCAGAGGGCGGCGGCGGCACCAACCCCGGCGGCCGCAGCAGCGTGTTCGAGCTGCAGGTGGCGGACACCCCGGACGGCGAGAAGCAGCCGCAGCTGATCGTGAAGGGGGCGCTGGACCGCGAGCAGCGCGACTCCTACGAGCTGACCCTGCGAGTGCGCGACGGCGGCGACCCGCCTCGCTCCTCGCAGGCCATCCTACGGGTCCTCATCACCGACGTGAACGACAACAGCCCCCGCTTCGAGAAGAGCGTGTACGAGGCCGACTTGGCTGAGAACAGCGCCCCGGGGACCCCCATCCTGCAACTGCGCGCAGCCGACTTGGACGTGGGGGTCAACGGGCAGATCGAATACGTGTTCGGGGCGGCCACCGAGTCGGTGAGGCGGCTGCTGCGCCTTGACGAGACGTCCGGCTGGCTCAGCGTCCTGCACCGGATCGACCGCGAGGAGGTGAACCAGCTGCGCTTCACGGTCATGGCCCGCGACCGCGGGCAGCCCCCCAAGACCGACAAGGCCACCGTGGTCCTTAACATCAAAGACGAGAACGACAACGTGCCGTCCATTGAAATCCGCAAGATTGGGCGCATCCCCCTCAAGGACGGGGTGGCCAACGTGGCCGAGGACGTTCTGGTCGACACCCCCATCGCTCTGGTGCAGGTGTCCGACCGAGACCAAGGCGAGAACGGGGTGGTCACCTGCACCGTGGTGGGCGACGTGCCCTTCCAGCTCAAGCCAGCCAGCGACACCGAGGGCGACCAGAACAAGAAAAAGTACTTCTTGCACACCTCGACCCCTCTGGACTATGAGGCCACCCGGGAGTTCAACGTGGTCATCGTGGCGGTGGACTCAGGCAGCCCCAGCCTCTCGAGCAACAACTCCCTGATTGTCAAGGTGGGAGACACCAACGACAACCCGCCCATGTTCGGCCAGTCGGTGGTGGAGGTTTACTTCCCTGAGAACAACATCCCGGGCGAGAGGGTGGCCACGGTGCTGGCGACAGACGCAGACAGCGGTAAGAACGCCGAGATCGCCTACTCGCTGGACTCCTCTGTGATGGGGATCTTTGCCATCGATCCCGATTCTGGGGACATCCTGGTCAATACCGTGCTGGACCGCGAGCAGACTGACAGGTATGAGTTTAAAGTTAACGCCAAAGACAAAGGCATCCCCGTGCTGCAGGGCAGCACTACGGTGATTGTGCAGGTGGCTGATAAAAATGACAATGACCCTAAGTTTATGCAGGACGTCTTCACCTTTTATGTGAAAGAAAACTTGCAGCCCAACAGCCCTGTGGGGATGGTCACCGTGATGGATGCTGACAAGGGGCGGAATGCAGAGATGAGCCTGTACATAGAGGAGAACAATAACATTTTTTCTATTGAAAATGACACGGGGACCATTTACTCCACAATGTCTTTTGACCGGGAACATCAGACCACATACACTTTCAGAGTCAAGGCTGTGGATGGGGGAGATCCTCCCAGATCTGCCACAGCTACAGTCTCGCTTTTTGTGATGGATGAAAATGACAATGCTCCCACAGTTACCCTTCCCAAAAACATTTCCTACACTTTACTGCCACCTTCGAGTAATGTCAGGACAGTAGTAGCTACAGTGTTGGCAACAGACAGTGATGATGGCATCAATGCAGACCTGAACTACAGCATTGTGGGAGGAAATCCCTTCAAGCTGTTTGAAATTGATCCCACTAGTGGTGTGGTTTCCTTAGTGGGAAAACTCACCCAAAAGCATTATGGCTTGCACAGGTTGGTGGTGCAAGTGAATGACAGTGGGCAGCCTTCCCAGTCCACCACGACTCTGGTGCACGTGTTTGTCAATGAAAGTGTTTCTAATGCAACTGCGATTGACTCCCAGATAGCTAGAAGTTTGCACATCCCACTCACCCAGGATATAGCTGGTGACCCAAGCTATGAAATTAGCAAACAGAGACTCAGTATTGTCATTGGCGTGGTTGCTGGCATTATGACGGTGATTCTAATCATCTTAATTGTAGTGATGGCAAGGTACTGCAGGTCCAAAAATAAAAATGGCTATGAAGCCGGCAAAAAAGATCACGAAGACTTTTTTACACCCCAACAGCATGACAAATCTAAAAAGCCTAAAAAGGACAAGAAAAACAAAAAATCTAAGCAGCCTCTCTACAGCAGCATTGTCACTGTGGAGGCTTCTAAGCCAAATGGACAGAGGTATGATAGTGTCAATGAGAAGCTGTCAGACAGCCCAAGCATGGGGCGATACAGGTCCGTTAATGGTGGGCCCGGCAGTCCTGACCTGGCAAGGCATTA)CAAATCTAGTTCCCCATTGCCTACTGTTCAGCTTCATCCCCAGTCACCAACTGCAGGAAAAAAACACCAGGCCGTACAAGATCTACCACCAGCCAACACATTTGTGGGAGCAGGAGACAACATTTCAATTGGATCAGATCACTGCTCTGAGTACAGCTGTCAAACCAATAACAAGTACAGCAAACAG|CCATTTCGTAGAGTGACGTTTTCTGTTGTGAGTCAGCCTCAGGACCCACATCAGGGGTCACTGCAGAGTTGCTATGACAGCGGGCTGGAGGAGTCAGAAACACCAAGCAGTAAGAGTTCATCAGGGCCAAGACTGGGTGCGCTTCCACTCCCAGAGGACAACTATGAAAG MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTGSGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVIGPSQSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERYELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGRSSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLITDVNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRLDETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIKDENDNVPSIEIRKIGRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQNKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVGDTNDNPPMFGQSVVEVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDREQTDRYEFKVNAKDKGIPVLQGSTTVIVQVADKNDNDPKFMQDVFTFYVKENLQPNSPVGMVTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDPPRSATATVSLFVMDENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLNYSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVNESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVMARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPNGQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQAVQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYSKQ|pfrrvtfsvvsqpqdphqgslqscydsgleesetpssksssgprlgalplpednye 21BR010 ENSG00000202508.1(14825),ENSG00000227175.1(2378) ENSG00000165626.17 ./- -/- chr10:13526138 chr10:13500080 intergenic 5'UTR/splice-site deletion/read-through 6 4 0 16 18 high . . |BEN_domain(100%) . . . ENSG00000165626.17 . ENST00000341083.7 upstream downstream duplicates(2) ATCCCAGAGCTTCAAACTGGTGAGCCGAG___...AGATTATCACCACGAGGTGTATAAGATCCCAGAATTCAGCAACGATGTTAATGGGGAGGCCAAAGAGACACAGCCCATTTTTTTAG|GAGATGAAAGCATGGAAATAAAAAAGCAAATTACAGGGATGAGAAGATTGCTGAACGACAGCACTGGGCGGATCTATCAGCGAGTTGGCAAAGAAGGAGAGAAACTAAAAGAAGAGCCCCAGGACCTGGATTTAGTCTGGCC(TCCACGTTTGAACTCCTCTGCTGAGGCCCCGCAAAGCCTCCACCCGTCTTCACGTGGTGTGTGGAATGAGCTACCGCCCCAGAGTGGACAGTTCTCAGGGCAGTATGGCACCCGTTCTAGAACCTTCCAAAGCCAGCCCCACCCTACCACGAGCTCCAATG___GAGAACTTCCAGTGGTGAATTCATCAGCTGGATCAAACTGCTGTACTTGTAACTGCCAGTCAACGTTGCAGGCCATTCTACAAGAACTCAAGACCATGAGGAAATTAATGCAAATTCAAGCAG___TTGGAACTCAAAACAGACAACAACCTCCAATTTCCCTTATATGCTCCCAGCGAACTGCTGTCTCACGAAAGAGAAATAAAAAGAAAAAAGTGCCCCCAAAGACTGTGGAACCTCTTACTGTGAAACAGAAGCCCAGTGGGTCAGAGATGGAGAAAAAGTCGGTGGTGGCCTCTGAGCTATCTGCTCTCCAGGCAGCCGAGCACACCTCCCCGGAGGAGAGCCGCGTTCTAGGATTCGGCATTGTTCTGGAATCACCTTCCTCAGAT___CCAGAAGTACAACTTGCTGAAGGCTTTGACGTGTTTATGCCTAAATCTCAGCTGGACTCTATATTGTCAAACTACACTCGCTCAGGAAGCCTTCTGTTTAGAAAACTGGTGTGTGCGTTTTTTGATGACAAGACTTTGGCTAACTCCTTACCCAATGGGAAGAGGAAAAGAGGACTCAATGACAACCGGAAAGGACTAGACCAAAATATTGTGGGTGCAATAAAAG___TCTTCACAGAAAAGTACTGTACAGCTAACCATGTGGATAAGCTTCCTGGCCCAAGAGATTGGGTACAGATTCTACAGGATCAAATTAAACTGGCCAGAAGAAGGTTAAAAAGAGGCTCAG___CAGAGATCGCGGACAGTGATGAAAGACTGGACGGCATTGCTCTACCACCAACAG___GTGCTTGTGGTGGGCCCTGCACTGTTCTGCCGGGTGGGAGTGCAGCGGTGACCCTAGTCTTGCAGAGCTCACCTCAGACAATGTCACAAGAAAAGGGACAGATGGCAGAACCCTGGGAGGAGCAGCATCTCGTGCTCCTGAACAACCTTACCAGAGACAGAGCTGAAACAGGAGCTTTGTCCCAAACCAGCCAAGACTTCAAGCACCATTCATTCCTCATAACTCAGGTCTCAGCTACACTTCATCATCAGAGAGGGATTCGCAACTTTCCCACGCCAGGCTCAGCCAAGTCTCTTACCCTTCACATCTCTTGCCTCTCTCTCTGAAATTATCTTGCTTATTTATGTGTGTGTGTATCACCCATCTTTCCACTGGAATCTGAGCCTTGTGATGTCAGGCTGTTAAGATTTCAGGCCCTGGTGAAAACATGTTCAGGATGCCCTCTCTCCCCTTTGCCCAGCAAGAGTGGACTGATTAAAGTTGGACCTGAGGTTTCCATGAATATGCAACCGAGTCATTCTGACGACAGTGAGTCCTGGCCTCCCAGTGCTGCCAGTTACCAGAAGTGACTCCCCTTCTCCCATCAGCCCAAACCCAGAGCCTTTATCACAGAACCCAAGATTGAGAGGAGGGTCAGGCTGGTTGGACAGTGGCCTTATCATGGGATGGATGGATCAGGAGCCTTTTACAGCGCTCTCCTTTCCGCTGTATCCCATTGTCTTAGATCACGTGGACTTGCCTTTTCCCCTAATACCGCCCCCTCAGTGCTCTTCTATAATTGGAGAAATTGTGTCAATAGATCGACCAAAGAGATGCAGGTTGTACTCCATGAGAATTTAATAAACGCTAGCGATTCAAAGC)$ . 21BR010 ENSG00000230223.7(287724),ENSG00000202433.1(22648) ENSG00000150361.12 ./- -/- chr13:70436816 chr13:69975802 intergenic CDS/splice-site deletion 6 3 0 33 15 high . . |BTB/POZ_domain(100%),BTB_And_C-terminal_Kelch(100%),Kelch_motif(100%) . . . ENSG00000150361.12 . ENST00000377844.9 upstream downstream mismappers(1) CTGCCTTGTGAAGAAGATGTCTTGCTTCCCCTTCACCTTCTACCACAACTATAAGTTTCCTGAGGCCTCCCCAGCCATGCTGAATT|GCTGTCATCAACCGGCCATTCAATGACACCTCAAAGTGATTTGGACTCCAGTAGCTCTGAAGAATTCTATCAAGCTGTTCATCATGCTGAGCAAACCTTCAGAAAGATGGAAAGTTATTTGAAGCAGCAGCAACTTTGTGATGTTATCCTGATTGTTGGGAACCGAAAGATACCTGCACATAG___GCTTGTTCTGAGTTCAGTCTCCGACTATTTTGCGGCCATGTTTACAAGTGATGTTTGTGAAGCC(AAGCAAGAGGAGATCAAAATGGAAGGCATAGACCCCAATGCTCTCTGGGACCTTGTCCAATTTGCATATACAG___GCTGCTTGGAATTAAAAGAGGACACCATTGAGAACCTTCTTGCTGCAGCGTGCCTTCTTCAGCTTCCACAGGTGGTGGAAGTGTGCTGCCACTTCCTCATGAAGCTTTTGCATCCATCTAACTGTTTAGGAATTCGAGCCTTCGCAGATGCTCAAGGATGCATTGAGTTAATGAAGGTGGCCCACAGCTACACAATG___GAAAACATAATGGAAGTTATCAGAAATCAAGAGTTTTTACTCCTTCCAGCTGAGGAGCTCCATAAACTACTGGCCAGTGATGATGTCAATGTTCCTGATGAAGAAACCATCTTCCATGCATTGATGATGTGGGTCAAGTATGACATGCAGAGTAGATGCAATGACCTGAGCATGCTTCTTGCCTTTATAAGACTGCCACTGCTTCCACCACAG___ATATTGGCTGACCTAGAAAATCATGCATTATTTAAGAATGATCTGGAATGTCAAAAGCTGATTCTAGAAGCAATGAAATACCATCTATTGCCAGAAAGAAGAACTTTAATGCAAAGTCCGAGAACTAAACCCAGAAAATCTACAGTCGGAACTTTGTATGCTGTAGGAGGAATGGATAACAACAAAG___GAGCTACAACTATAGAGAAATATGATCTGAGAACAAATCTGTGGATCCAGGCAGGGATGATGAATGGCAGAAGGCTGCAGTTTGGTGTGGCTGTTATTGATGACAAACTCTTTGTAATTGGAGGTCGAGATGGCTTAAAGACATTGAACACTGTTGAATGTTACAATCCCAAAACCAAGACATGGACTGTCTTACCACCAATGTCAACACACAGACATGGTCTAG___GTGTAACAGTACTTGAAGGCCCTATTTATGCTGTGGGAGGCCATGATGGCTGGAGCTATCTGAATACAGTGGAAAGGTGGGATCCACAGAGTCAACAATGGACATTTGTAGCCAGTATGTCAATTGCTCGGAGCACAGTTGGTGTAGCAGCATTGAATGGCAA___GTTGTATTCAGTTGGAGGTCGTGATGGAAGTTCCTGTTTGAGTTCAATGGAATATTATGATCCTCATACAAATAAGTGGAACATGTGTGCTCCCATGTGTAAGAGGAGAGGGGGTGTCGGAGTGGCCACATGTGACGGTTTTCTTTATGCAGTAGGAGGTCATGATGCTCCTGCTTCAAATCACTGTTCCCGGCTACTGGATTATGTAGAAAG___ATATGATCCCAAAACAGACACTTGGACCATGGTGGCTCCTTTGAGTATGCCCAGAGATGCTGTTGGGGTCTGTCTCCTTGGTGACAGATTATATGCTGTTGGTGGCTATGATGGACAGACATACCTCAACACTATGGAATCCTATGACCCACAAACTAATGAGTGGACACAG___ATGGCTTCCTTGAATATTGGGAGAGCAGGTGCCTGTGTGGTAGTCATCAAGCAACCTTGACTTATTGATATTTTACTTGGAAAGATTTTACTTGCTGGAGTGGTTATTTTTATATTGAATGGCAAGAATGAGAACTTCCAGAGATGAAAACTCTTCAAGAACAAGGATCTCTGTAGCGTTACCTACTGATGTTGAAAGAGTTAGTAGATCAAACAGAATAGTAGGAAACAAGAAAACATTAAACTTATACAGGAAAAATGTCTGGCCATATGTTAGTTAGTTCGGGAATGGTTATTGGTAATTTGTTTTGTATTATAGCATACAATAACTAGAGTTACCAAAGGCTTGTTTTTTCTTGAGCAGTTGAAAGGAGAGACCAATATTTGTGACATGGATAGTTTCATGACCACAACTCATTCAATCATTTTATAGTCTATGGCAATATCCAAGAGATTGCCAAGAGTAGAAGACAGAATATTTCATCTGACAGTATCTGATTGGTTTACTGTTTTTCTAATCATATGTGGTCATAACGGGAAGCAGAATTATGCTTTATTCAAACAAACCTGCTTCTGCCTCATTTTCCTAAGCTATGAGAACAATTAGAGAAACAGATTCATGCTTGTATCTTGCATTCAGAAAACAAACTGTCCTACTAATCAAAGCTGCATATCTCATCAGAGATAATGGTTGAATTTTATTGCAACCATATTGGCAATCTGAAACTGGCAAACACAAAGGATTGTTTTCACTAGGCTTACCATTTTGCTTTGCTTTTTTAACACACTGAGCCAAAGATGCAGTGTAATTATTGGGCTTTTGCCTTATGTTGAGTTCAGTGTAAGCATGGAAGCTAGTGATTCTGAATGATATATATATCCATTGCATGTTGAACTCCTTTAGAATTTTGTTCTTAAACAAACTTAGAATTTCAAAAGAAAAACATATGATCCATTAAGTTGGAGTGTTTATGATTATTGCTAGAAAGAAGGCAGACTTCATATTCTCATCGCCCATTTTTCAAACTTGTTACATTGATCTGTACATTATTTTAAGCCACATGTTTGTAATTGTTTAAAACAAAGTGGAAACATTACACAATGTCCTTAATAAATAGGCCCATGTAAATTTTAATTACAATTAATAAATGATCAAAAAATTTGCA)$ . 21BR010 ENSG00000137801.11 ENSG00000259345.7 +/- -/- chr15:39587321 chr15:39071608 intron exon/splice-site deletion/3'-3' 3 2 0 33 39 high . . . . . ENSG00000137801.11 ENSG00000259345.7 . ENST00000560197.5 upstream downstream mismappers(3),mismatches(1) CATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG(___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGAGTGAGAAATAACCTTCTGTTGCTTTAAATCTTGGGTTGTGCAATACATCAGTGAGCCTACCATGACTAATACATTCTATGGATGCAGATTTCTCTTCTCTGGCCATTGACATGAGTGTGCTTTCTGGATGCAG___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAA___CCTTGAAGGGCAATATCCTTACCAACATGTGATCTGAAGGAGCTCTGAACCCTCCAGTGAGACATCAGCCCATCAGACTCACAGAGAACAGCAGGAAGGCCAAAGACTCAAGATTTATCTATCCTTGAAGTGAGCAAAATTCCTTG___TTATTCAGTGATGCTGATTACAACAGGCCTCCGTTATACGAAGGGAAAACATCCCAGACCCCCCAGTGAATGCCTGAAACTGGATTCTACTGAACCCTGAGATGGTACTAAGTGACTAACGGGTGAATAGCGTGTACAGCATGGATACACTAGACAAAGGGAGGATTCGCATCCCGGGCTGGTCAGCAAGAGGTTTCATCACCCCACTCAAAATG___GCAGGACCGTATGAACCTGAATCCAGAGAAACGGCTCATCAGTCTCCAATCCTCTGATTTTCTAAACCAGGACTACATTATATTAAAACCAGAAAAAGCAATACCTCTTTTCACAGAATGGACTTTCTGGTGGAAATGGGAGGAACCAAAAGAAGGCTGACTTCTTCATTTTGACACCCTGCCCTGACTGCAGAACGTGATTTCCCTAAAAGACTGAATGTTAACCTCAAAGCCTGGTCAACCAACATGCAGGAGAAATCTTGACCAAGGCTCTGAGCATGCTGTGGTCCCAGTGGTGAGGGTGTGATATGCACTGTCTGTTCCTGGAGTCACAGTGCTCATCTTGTGGTAAAGACCTCTTGGAAGAATGTCTTCAAAGGCACATCTCCAGCTGGGAGTCC)$ . 21BR010 ENSG00000156535.15(96063),ENSG00000279790.1(46967) ENSG00000223786.1 ./+ +/+ chr6:73924379 chr6:74347075 intergenic exon/splice-site deletion 1 2 0 9 14 high . . . . . . ENSG00000223786.1 . ENST00000435946.1 downstream upstream duplicates(1),mismappers(1) GCCAAGATGGCCGAATAGGAACAGCTCCAGTCTACAGCTCCCAGTGTGAGCGACACAGAAGACAG___ACTGGAGAGGAAATGGCAAGCAGCCTTGTTCTATCATCAGTCCCAGGGAGCTCTTGCATCTCCAGCCCTCATGCTCTGTGTGTATGCCAGCAAGTTGATAATTCCAAGAAGATGATCTCATGTCAGGCACTTGGGAAAG|AGAACTTCCCTTCATGATGCTATGCAATCCCCAGGAGAAGCACGTTGAAAGCTGA(___AAAGAAGACTGACTGAGATGTGTTGGCGGGCTTCTCAAGATCCCTATCGATGGCAGAATGCTGACATGAGTTGCCCATAGTCCAG___GTTTCCCAATGTAGCAGATGACTCTAGCGGCTCCAGCTTCAGCATCATCTTAAGTTCAAGTGAAAAGGAAAAGAGAATCTCTTTTTCTTCAAACAATTTCAAACTAAAATCTTGAGTCTGACTTTTCCTGGCCAGAATTAAGCTTGTACTTATCCCTGAAAAATCATCAATGCTACAGTGATGAATTTACCAATTGAGGCAGAATTTAGGTCACATGACGCTCCAAAGCCTCTTCAAAACCGCATGACTCAGAGTGAGGCAGAAGTATTTGGGATATTTGCAACAGGAGAAGGGTAAATGAATGGAGAGTGCCAAAACAACTTATGTCAATTATACAATTATAAATACAACCAAAATAAAGTATGGAAATCAGTATTTTCACCTATCTTAA)$ . 21BR010 ENSG00000278621.1 ENSG00000259345.7 -/- -/- chr15:39588397 chr15:39071608 exon exon/splice-site deletion 1 2 0 98 39 high . . . . . ENSG00000278621.1 ENSG00000259345.7 ENST00000616754.1 ENST00000561058.5 upstream downstream . ^(CAGTGTAAGATATTATAGGGTATAGGGAACCGATAACTTGTTGGGATTATGTTGTCCACCTGCATCTTAGAGCAATCAAATCGCTCAGGACTAACCAAGCTGGAATCTCCTCGAATGCTGACTGCAGCATTCAGTAAAAGAGCAAAGCTCCTGGGTCGTTTCATCCTGGGCTGCGTGGCTCACCAATTGGACAGTCCTGCTTGTTGCAGATCTGGTTTTCTGTTACATCACCAACGCAGTCCTTGCCTCCAAACTGGGGTGTGGGGTTGTTGCAGAGACGACTACGTTTCTGTACCCCTCCTCCACAGGTGACAGAACAGATGTCCCATGGTGACCAAGGACCCCAGCCTCCATTGACTGT)AAGAAGATGAACCACAGGCAACAATTAAGATCAACTTTCAAATCCCTCCCTTGTCATAGACTCTCCTAAGCCCGTTCAAGAAACCTCTGCTTCTCTGACACATGGAAAGAATGCTGGGGAAGAGG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATAC(CAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 21BR010 ENSG00000150667.8 ENSG00000259345.7 -/- -/- chr15:39600845 chr15:39071608 3'UTR exon/splice-site deletion 1 2 0 260 39 high stop-codon . FSIP1_family(100%)| . . ENSG00000150667.8 ENSG00000259345.7 ENST00000350221.4 ENST00000561058.5 upstream downstream . ^(ATCGCGCATCTGGTTGCCAGGGAAACAGCGGTCCCACAGGCAGGAGGGATCTGGACCGGCGGCTTCTTCCACTACCAGAGAGGCTGAGGTGGCGGGAGAGACCCCTCTCCTCTGGGGGTAAGTGGCTGGCGCGGCGAGTGTCTGCGGCGCGCTTCTGCGGCCATCTGCGCCCTGACTGACGGCGGCCAGTTCCTCGAGGAGGCCCGGCGGGAAG___GATTTCAATGGATATTATAAAGGGAAACCTAGATGGAATTTCAAAACCAGCTTCAAATTCAAGAATACGCCCTGGGAGCAGAAGTTCAAATGCTTCTTTGGAGGTGCTCTCAACAGAACCAGGATCCTTCAAG___GTCGATACTGCAAGCAACTTGAACTCTGGTAAAGAGGACCACTCCGAAAGCAGTAATACAGAGAACAGAAGAACTAGTAATGATGATAAGCAGGAAAGCTGCTCTGAGAAAATAAAATTGGCTGAAGAGGGATCAGATGAAGATCTGGATTTGGTTCAACATCAGATAATCTCTGAGTGTTCAG___ATGAACCCAAATTAAAAGAATTAGATTCTCAACTTCAAGATGCTATTCAGAAGATGAAAAAACTTGATAAAATATTGGCAAAGAAACAACGCAGAGAAAAAGAAATTAAGAAGCAAGGTCTAGAAATGAGAATAAAGCTGTGGGAAGAAATTAAG___TCTGCAAAATATAGTGAAGCTTGGCAAAGTAAAGAGGAGATGGAAAATACAAAAAAATTTTTATCTTTGACTGCTGTTTCTGAAGAAACTGTTG___GTCCTTCTCATGAGGAGGAAGACACCTTTTCCTCAGTGTTTCATACTCAAATCCCTCCAGAAGAATATGAAATGCAGATGCAGAAACTCAATAAAG___ATTTTACCTGTGATGTGGAAAGAAATGAGTCATTGATCAAATCAGGAAAGAAACCTTTCTCGAATACAGAAAAGATTGAGCTCAGGGGTAAACACAACCAGGATTTTATTAAGAGAAACATTGAG___TTGGCCAAGGAATCAAGAAACCCAGTGGTTATGGTTGACAGAGAGAAGAAAAGGCTGGTTGAGCTTTTGAAGGACTTGGATGAGAAAGATTCCGGGCTCTCCAGTTCTGAG___GGTGATCAGTCTGGCTGGGTGGTCCCAGTAAAAGGATATGAACTTGCAGTCACCCAGCATCAGCAGCTTGCTGAAATTGATATAAAACTCCAAGAACTCTCTGCAGCCTCCCCTACAATTTCCAGTTTTTCTCCAAGACTTGAAAATCGGAATAATCAG___AAACCTGACCGTGATGGTGAAAGAAATATGGAAGTAACTCCAGGAGAAAAGATACTTAGGAACACCAAAGAGCAACGCGATCTGCATAATCGGCTGAGAGAGATTGATGAAAAGCTGAAAATGATGAAGGAAAATGTG___TTAGAGTCCACATCATGTCTCTCTGAAGAACAGTTAAAGTGTCTTCTGGATGAATGCATACTTAAACAAAAATCCATCATTAAACTTTCTTCAGAAAGAAAAAAGGAAGACATTGAGGACGTAACACCTGTGTTCCCCCAGCTTTCCAGGTCCATCATCTCTAAATTGCTAAATGAATCAGAAACAAAGGTCCAGAAAACTGAGGTAGAAGATGCAGATATGCTTGAGAGTGAAGAATGTGAAGCTTCTAAAGGCTACTATCTCACTAAAGCCTTGACTGGACATAACATGTCAGAAGCTCTTGTCACTGAAGCAGAGAATATGAAATGCCTTCAATTTTCCAAGGACGTTATTATTAGTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCT)GAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG(___AACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAACATCATGAAAGCAG___GCATCAAGTGAATAGAGAAGATTCTATGGATGTAGAAGAGGTCCCTGGGTTTCCGAATTGCCACTGGATTGCCTCTATCAAATACACAAGAGTTTCATGA___TCACAGGGGACCCAAGATTCTTGGACAGAATTCTCGCCGGGAGCCAACTCAGCCTGATCTGCTGGCATCTCTCAAGTATCAGAAGTCAACAAAATGGTTTGCCTTGAAGACTTGGCCAGAGCAGCAGCCAAAGTTCATAAGGCTTTCGTAGAGAGATTG)$ . 21BR010 ENSG00000185630.19 ENSG00000201987.1(30210),ENSG00000225487.2(36776) +/+ ./+ chr1:164821626 chr1:164884542 CDS/splice-site intergenic deletion/read-through 1 10 0 272 21 medium stop-codon . Homeobox_domain(100%),PBC_domain(100%)| . . ENSG00000185630.19 . ENST00000367897.5 . downstream upstream duplicates(2),low_entropy(1),mismatches(1) ^(ATGGACGAGCAGCCCAGGCTGATGCATTCCCATGCTGGGGTCGGGATGGCCGGACACCCCGGCCTGTCCCAGCACTTGCAGGATGGGGCCGGAGGGACCGAGGGGGAGGGCGGGAGGAAGCAGGACATTGGAGACATTTTACAGCAAATTATGACCATCACAGACCAGAGTTTGGATGAGGCGCAGGCCAG___AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTGTTGTGTGAAATCAAAGAAAAAACAG___TTTTGAGTATCCGAGGAGCCCAGGAGGAGGAACCCACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCTGAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGTTCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATCTACCATACGGAGCTGGAGAAATACGAGCAG___GCCTGCAACGAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATGGTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGCGAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG___GCGGAAGAGACGGAATTTCAACAAGCAAGCGACAGAAATCCTGAATGAATATTTCTATTCCCATCTCAGCAACCCTTACCCCAGTGAGGAAGCCAAAGAGGAGTTAGCCAAGAAGTGTGGCATCACAGTCTCCCAG___GTATCAAACTGGTTTGGAAATAAGCGAATCCGGTACAAGAAGAACATAGGTAAATTTCAAGAGGAAGCCAATATTTATG)CTGCCAAAACAGCTGTCACTGCTACCAATGTGTCAGCCCATGGAAGCCcAGCTAACTCGCCCTCAACTCCCAACTCGGCTG___GTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGT|GAAATTGCAAGAACCTATTGATGGCTTGGATGCTCTGGTGGTGACAGCAAGTCCTCTTCTCTTGACTGAAGAAATGTCTTCCCCTATCTGAAAAGTGGCCTCTCTTCCGGAATGACACATACTGgCTTTTGAAGAAGCAAAAGGATACCTGCTG . 21BR010 ENSG00000161551.14 ENSG00000269483.2 -/- -/- chr19:51877282 chr19:51843315 CDS/splice-site exon deletion/read-through 3 4 0 104 36 medium out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000269483.2 ENST00000301399.11 ENST00000594725.2 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTA)CATCAACCTAGTATCAATAG___GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAGtAGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTTTATCATCATTCAATGATGTGGCTGTTGACTTCACCTGGGAGGAGTGGAATCTATTAGACCCTGTTCAGAAGAACCTCTACCAGGATGTGATGTTGGAAAATTACAACAACCTAGTGTCACTGG___GTTGTCAAGCTACCAAGCCAGgAGCAATATTCCAGT$ MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGIvEGAAHSQICP|gfiiiq* 21BR010 ENSG00000162600.12 ENSG00000233216.1(48669),ENSG00000162600.12(203047) -/- ./- chr1:58506060 chr1:58277672 CDS/splice-site intergenic deletion/read-through 4 2 0 269 16 medium out-of-frame . . . . ENSG00000162600.12 . ENST00000371226.8 . upstream downstream . ^(GTCACCGCTTTCGCTTCTGCTTGA___GTAGTCAAGTGAAAAAATGAGCTTCATCTGTGGATTGCAGTCTGCTGCTAGAAACCATGTTTTCTTCCGATTTAATTCACTGTCTAACTGGAGAAAATGTAACACATTAGCATCCACCTCACGGGGCTGTCATCAAGTACAAGTTAACCATATAGTAAATAAGTATCAGGGACTGGGAGTAAATCAGTGTGACAGGTGGAGTTTTCTGCCTGGAAACTTTCATTTTTATAGTACTTTTAACAACAAAAGAACAGGAGGCCTCTCAAGTACCAAAAGTAAGGAAATTTGGAGGATTACCAGCAAATGTACTGTATGGAATGATGCTTTTTCAAGACAGCTGCTAATAAAAGAAGTTACAGCAGTCCCTAGTCTGTCAGTATTGCATCCTCTAAGCCCTGCTTCCATAAGAGCTATTAGGAATTTCCATACTTCTCCACGGTTTCAAGCTGCTCCGGTTCCTCTCTTGTTGATGATTCTTAAACCAGTACAGAAGTTATTTGCAATCATTGTAGGCAG___GGGCATAAGGAAATGGTGGCAGGCACTTCCTCCTAACAAGAAGGAAGTAGTTAAAGAAAATATAAGGAAGAATAAATGGAAGCTATTCCTTGGTTTGAGTAGTTTTGGATTGCTCTTTGTGGTGTTTTATTTTACTCACCTGGAAGTAAGTCCAATCACAGGAAGGAGCAAGCTACTATTATTGGGGAAAGAACAGTTCAGACTTTTATCGGAACTGGAATATGAAGCA___TGGATGGAAGAATTTAAAAATGATATGCTAACTGAGAAAGATGCCCGATACCTGGCTGTTAAAGAAGTGCTTTGTCATCTAATTGAATGCAATAAAGATGTTCCAGGGATCTCTCAGATCAATTGGGTTATTCATGTGGTTGATTCCCCAATTATTAATGCCTTCGTGCTTCCA___AATGGACAAATGTTTGTTTTCACTGGATTTTTAAATAGTGTAACCGATATTCATCAACTTTCTTTCCTTCTGGGCCATGAAATAGCACATGCAGTACTTGGGCATGCT___GCAGAAAAGGCTGGCATGGTTCATTTGTTGGATTTCCTAGGTATGATTTTCCTCACAATGATTTGGGCCATTTGTCCTCGAGATAGCT)TGGCACTTTTGTGCCAGTGGATACAGTCTAAATTGCAGGAG___TATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCCGAAGCTGACAAAATTGGACTACTGCTTGCTGCAAAG___GCTTGTGCAGACATAAGAGCCAGTTCAGTGTTTTGGCAGCAAATGGAGTTCGTTGATAGCCTGCATGGCCAACCCAAGATGCCAGAATGGTTATCTACACACCCTTCTCATGGCAATCGAGTTGAGTACTTGGATAGACTTATACCTCAG|ACCATGGTTTCCACCACAGCAGGGATCTGGCTGTATTCATGACTGAGTTCCCAGAGCAATGGCACCACCCTTAGGAGATTCTGACTGAGTGAATGAAAGAGGAAGGATTGAATTCAAGTGGATCCGAG MSFICGLQSAARNHVFFRFNSLSNWRKCNTLASTSRGCHQVQVNHIVNKYQGLGVNQCDRWSFLPGNFHFYSTFNNKRTGGLSSTKSKEIWRITSKCTVWNDAFSRQLLIKEVTAVPSLSVLHPLSPASIRAIRNFHTSPRFQAAPVPLLLMILKPVQKLFAIIVGRGIRKWWQALPPNKKEVVKENIRKNKWKLFLGLSSFGLLFVVFYFTHLEVSPITGRSKLLLLGKEQFRLLSELEYEAWMEEFKNDMLTEKDARYLAVKEVLCHLIECNKDVPGISQINWVIHVVDSPIINAFVLPNGQMFVFTGFLNSVTDIHQLSFLLGHEIAHAVLGHAAEKAGMVHLLDFLGMIFLTMIWAICPRDSLALLCQWIQSKLQEYMFNRPYSRKLEAEADKIGLLLAAKACADIRASSVFWQQMEFVDSLHGQPKMPEWLSTHPSHGNRVEYLDRLIPQ|tmvsttagiwlys* 21BR010 ENSG00000162600.12 ENSG00000233216.1(186482),ENSG00000162600.12(65234) -/- ./- chr1:58506060 chr1:58415485 CDS/splice-site intergenic deletion/read-through 3 1 0 269 7 medium out-of-frame . . . . ENSG00000162600.12 . ENST00000371226.8 . upstream downstream mismatches(2) ^(GTCACCGCTTTCGCTTCTGCTTGA___GTAGTCAAGTGAAAAAATGAGCTTCATCTGTGGATTGCAGTCTGCTGCTAGAAACCATGTTTTCTTCCGATTTAATTCACTGTCTAACTGGAGAAAATGTAACACATTAGCATCCACCTCACGGGGCTGTCATCAAGTACAAGTTAACCATATAGTAAATAAGTATCAGGGACTGGGAGTAAATCAGTGTGACAGGTGGAGTTTTCTGCCTGGAAACTTTCATTTTTATAGTACTTTTAACAACAAAAGAACAGGAGGCCTCTCAAGTACCAAAAGTAAGGAAATTTGGAGGATTACCAGCAAATGTACTGTATGGAATGATGCTTTTTCAAGACAGCTGCTAATAAAAGAAGTTACAGCAGTCCCTAGTCTGTCAGTATTGCATCCTCTAAGCCCTGCTTCCATAAGAGCTATTAGGAATTTCCATACTTCTCCACGGTTTCAAGCTGCTCCGGTTCCTCTCTTGTTGATGATTCTTAAACCAGTACAGAAGTTATTTGCAATCATTGTAGGCAG___GGGCATAAGGAAATGGTGGCAGGCACTTCCTCCTAACAAGAAGGAAGTAGTTAAAGAAAATATAAGGAAGAATAAATGGAAGCTATTCCTTGGTTTGAGTAGTTTTGGATTGCTCTTTGTGGTGTTTTATTTTACTCACCTGGAAGTAAGTCCAATCACAGGAAGGAGCAAGCTACTATTATTGGGGAAAGAACAGTTCAGACTTTTATCGGAACTGGAATATGAAGCA___TGGATGGAAGAATTTAAAAATGATATGCTAACTGAGAAAGATGCCCGATACCTGGCTGTTAAAGAAGTGCTTTGTCATCTAATTGAATGCAATAAAGATGTTCCAGGGATCTCTCAGATCAATTGGGTTATTCATGTGGTTGATTCCCCAATTATTAATGCCTTCGTGCTTCCA___AATGGACAAATGTTTGTTTTCACTGGATTTTTAAATAGTGTAACCGATATTCATCAACTTTCTTTCCTTCTGGGCCATGAAATAGCACATGCAGTACTTGGGCATGCT___GCAGAAAAGGCTGGCATGGTTCATTTGTTGGATTTCCTAGGTATGATTTTCCTCACAATGATTTGGGCCATTTGTCCTCGAGATAGCTTGGCACTTTTGTGCCAGTGGATACAGTCTAAATTGCAGGAG___TATATGTTTAATAGACCATACAGCAGAAA)ATTGGAGGCCGAAGCTGACAAAATTGGACTACTGCTTGCTGCAAAG___tCTTGTGCAGAaATAAGAGCCAGTTCAGTGTTTTGGCAGCAAATGGAGTTCtTTGATAGCCTGCATGGCCAACCCAAGATGCCAGAATGGTTATCTACACACCCTTCTCATGGCAATCGAGTTGAGTACTTGGATAGACTTATACCTCAG|GATATGCATGTATCCCCAAGGGCAGCCAGGGACTTTGAAAGAGCCCAGTGGAACCTACACCTAAGTGGAAATGGAATTCTTTCCTTTTATTAAAACCTTCAGTAAATCGTAAAAGTTG MSFICGLQSAARNHVFFRFNSLSNWRKCNTLASTSRGCHQVQVNHIVNKYQGLGVNQCDRWSFLPGNFHFYSTFNNKRTGGLSSTKSKEIWRITSKCTVWNDAFSRQLLIKEVTAVPSLSVLHPLSPASIRAIRNFHTSPRFQAAPVPLLLMILKPVQKLFAIIVGRGIRKWWQALPPNKKEVVKENIRKNKWKLFLGLSSFGLLFVVFYFTHLEVSPITGRSKLLLLGKEQFRLLSELEYEAWMEEFKNDMLTEKDARYLAVKEVLCHLIECNKDVPGISQINWVIHVVDSPIINAFVLPNGQMFVFTGFLNSVTDIHQLSFLLGHEIAHAVLGHAAEKAGMVHLLDFLGMIFLTMIWAICPRDSLALLCQWIQSKLQEYMFNRPYSRKLEAEADKIGLLLAAKsCAeIRASSVFWQQMEFfDSLHGQPKMPEWLSTHPSHGNRVEYLDRLIPQ|dmhvspraardferaqwnlhlsgngilsfy* 22BR005 ENSG00000004142.12 ENSG00000004142.12 -/- -/+ chr17:28352912 chr17:28353647 CDS/splice-site intron inversion/5'-5' 76 73 3 464 168 high out-of-frame . Hemimethylated_DNA-binding_protein_YccV_like(100%)| . . ENSG00000004142.12 ENSG00000004142.12 ENST00000540200.6 . upstream upstream duplicates(11),mismatches(1) ^(AGTGTGGGACTGGGGCGGAACGCCGCCCGGCCGCGGGTCGGGCTCTGTGTCAGCAGCCGGGCGGGCGCTCGGGCGGGACATGGCAGCCTGTACAGCCCGGCGGGCCCTGGCCGTGGGCAGCCGCTGGTGGTCCCGGTCGCTGACTGGGGCCCGGTGGCCAAGGCCGCTCTGTGCGGCGGCCGGAGCTGGAGCCTTCTCGCCAGCGTCGACCACGACGACGCGGAGGCACCTCTCGTCCCG___AAACCGACCAGAGGGCAAAGTGTTGGAGACAGTTGGTGTGTTTGAGGTGCCAAAACAGAATGGAAAATATGAGACCGGGCAG___CTTTTCCTTCATAGCATTTTTGGCTACCGAGGTGTCGTCCTGTTTCCCTGGCAGGCCAGACTGTATGACCGGGATGTGGCTTCTGC)AGgTCCAGAAAA___AGCAGAGAACCCTGCTGGCCATGGCTCCAAGGAGGTGAAAGGCAAAACTCACACTTACTATCgGGTGCTGATTGATGCTCGTGACTGCCCACATATA___TCTCAGAGATCTCAGACAGAAGCTGTGACCTTCTTGGCTAACCATGATGACAGTCGGGCCCTCTATGCCATCCCAG___GCTTGGACTATGTCAGCCATGAAGACATCCTCCCCTACACCTCCACTGATCAGGTTCCCATCCAACATGAACTCTTTGAAAGATTTCTTCTGTATGACCAGACAAAAG|GACTTTCCATGGAGAGGACCCCCAAGCCCAGCCATCTTGCTTACTTACTATATGTGGGCAGTCACGAGCATCAATCAGCACCTGATA___GGATGATGTGAGATTGAGGGAAAGACTCCAGCTGAACATCAAGAAATCAAGAAGACTTGTCCCCCAAATGCCCTCTGGGATACTCATAATGAAAATTAGGAATGGCTTAGGAAAGCATTCTGAGGAGGCCTAAAGGGACTCTCTGACTTAGACTATCCCTGGCACTCAGCACTTTTGTCTCCATGGGTCTTAGTCCCAGAGAAGTACTCTGGGGATGTTTCCAAGGCCTAGGAGGACGCTGTCTTCACCCCTAGTACCCCAATTACATATGTCTGCCATCTCCTCCTGAGGATACTGTGAGGCACAACCACAG MAACTARRALAVGSRWWSRSLTGARWPRPLCAAAGAGAFSPASTTTTRRHLSSRNRPEGKVLETVGVFEVPKQNGKYETGQLFLHSIFGYRGVVLFPWQARLYDRDVASAgPEKAENPAGHGSKEVKGKTHTYYrVLIDARDCPHISQRSQTEAVTFLANHDDSRALYAIPGLDYVSHEDILPYTSTDQVPIQHELFERFLLYDQTK|glsmertpkpshlayllyvgshehqsapdrmm* 22BR005 ENSG00000082175.15 ENSG00000137672.13 -/- -/- chr11:101091760 chr11:101476534 CDS/splice-site CDS/splice-site duplication 66 39 5 310 84 high in-frame . Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Progesterone_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%)|Ion_transport_protein(100%) . . ENSG00000082175.15 ENSG00000137672.13 ENST00000325455.10 ENST00000344327.8 upstream downstream duplicates(10) ^(AGTCCACAGCTGTCACTAATCGGGGTAAGCCTTGTTGTATTTGTGCGTGTGGGTGGCATTCTCAATGAGAACTAGCTTCACTTGTCATTTGAGTGAAATCTACAACCCGAGGCGGCTAGTGCTCCCGCACTACTGGGATCTGAGATCTTCGGAGATGACTGTCGCCCGCAGTACGGAGCCAGCAGAAGTCCGACCCTTCCTGGGAATGGGCTGTACCGAGAGGTCCGACTAGCCCCAGGGTTTTAGTGAGGGGGCAGTGGAACTCAGCGAGGGACTGAGAGCTTCACAGCATGCACGAGTTTGATGCCAGAGAAAAAGTCGGGAGATAAAGGAGCCGCGTGTCACTAAATTGCCGTCGCAGCCGCAGCCACTCAAGTGCCGGACTTGTGAGTACTCTGCGTCTCCAGTCCTCGGACAGAAGTTGGAGAACTCTCTTGGAGAACTCCCCGAGTTAGGAGACGAGATCTCCTAACAATTACTACTTTTTCTTGCGCTCCCCACTTGCCGCTCGCTGGGACAAACGACAGCCACAGTTCCCCTGACGACAGGATGGAGGCCAAGGGCAGGAGCTGACCAGCGCCGCCCTCCCCCGCCCCCGACCCAGGAGGTGGAGATCCCTCCGGTCCAGCCACATTCAACACCCACTTTCTCCTCCCTCTGCCCCTATATTCCCGAAACCCCCTCCTCCTTCCCTTTTCCCTCCTCCTGGAGACGGGGGAGGAGAAAAGGGGAGTCCAGTCGTCATGACTGAGCTGAAGGCAAAGGGTCCCCGGGCTCCCCACGTGGCGGGCGGCCCGCCCTCCCCCGAGGTCGGATCCCCACTGCTGTGTCGCCCAGCCGCAGGTCCGTTCCCGGGGAGCCAGACCTCGGACACCTTGCCTGAAGTTTCGGCCATACCTATCTCCCTGGACGGGCTACTCTTCCCTCGGCCCTGCCAGGGACAGGACCCCTCCGACGAAAAGACGCAGGACCAGCAGTCGCTGTCGGACGTGGAGGGCGCATATTCCAGAGCTGAAGCTACAAGGGGTGCTGGAGGCAGCAGTTCTAGTCCCCCAGAAAAGGACAGCGGACTGCTGGACAGTGTCTTGGACACTCTGTTGGCGCCCTCAGGTCCCGGGCAGAGCCAACCCAGCCCTCCCGCCTGCGAGGTCACCAGCTCTTGGTGCCTGTTTGGCCCCGAACTTCCCGAAGATCCACCGGCTGCCCCCGCCACCCAGCGGGTGTTGTCCCCGCTCATGAGCCGGTCCGGGTGCAAGGTTGGAGACAGCTCCGGGACGGCAGCTGCCCATAAAGTGCTGCCCCGGGGCCTGTCACCAGCCCGGCAGCTGCTGCTCCCGGCCTCTGAGAGCCCTCACTGGTCCGGGGCCCCAGTGAAGCCGTCTCCGCAGGCCGCTGCGGTGGAGGTTGAGGAGGAGGATGGCTCTGAGTCCGAGGAGTCTGCGGGTCCGCTTCTGAAGGGCAAACCTCGGGCTCTGGGTGGCGCGGCGGCTGGAGGAGGAGCCGCGGCTGTCCCGCCGGGGGCGGCAGCAGGAGGCGTCGCCCTGGTCCCCAAGGAAGATTCCCGCTTCTCAGCGCCCAGGGTCGCCCTGGTGGAGCAGGACGCGCCGATGGCGCCCGGGCGCTCCCCGCTGGCCACCACGGTGATGGATTTCATCCACGTGCCTATCCTGCCTCTCAATCACGCCTTATTGGCAGCCCGCACTCGGCAGCTGCTGGAAGACGAAAGTTACGACGGCGGGGCCGGGGCTGCCAGCGCCTTTGCCCCGCCGCGGAGTTCACCCTGTGCCTCGTCCACCCCGGTCGCTGTAGGCGACTTCCCCGACTGCGCGTACCCGCCCGACGCCGAGCCCAAGGACGACGCGTACCCTCTCTATAGCGACTTCCAGCCGCCCGCTCTAAAGATAAAGGAGGAGGAGGAAGGCGCGGAGGCCTCCGCGCGCTCCCCGCGTTCCTACCTTGTGGCCGGTGCCAACCCCGCAGCCTTCCCGGATTTCCCGTTGGGGCCACCGCCCCCGCTGCCGCCGCGAGCGACCCCATCCAGACCCGGGGAAGCGGCGGTGACGGCCGCACCCGCCAGTGCCTCAGTCTCGTCTGCGTCCTCCTCGGGGTCGACCCTGGAGTGCATCCTGTACAAAGCGGAGGGCGCGCCGCCCCAGCAGGGCCCGTTCGCGCCGCCGCCCTGCAAGGCGCCGGGCGCGAGCGGCTGCCTGCTCCCGCGGGACGGCCTGCCCTCCACCTCCGCCTCTGCCGCCGCCGCCGGGGCGGCCCCCGCGCTCTACCCTGCACTCGGCCTCAACGGGCTCCCGCAGCTCGGCTACCAGGCCGCCGTGCTCAAGGAGGGCCTGCCGCAGG)TCTACCCGCCCTATCTCAACTACCTGAG___GCCGGATTCAGAAGCCAGCCAGAGCCCACAATACAGCTTCGAGTCATTACCTCAGAAGATTTGTTTAATCTGTGGGGATGAAGCATCAGGCTGTCATTATGGTGTCCTTACCTGTGGGAGCTGTAAGGTCTTCTTTAAGAGGGCAATGGAAG___GGCAGCACAACTACTTATGTGCTGGAAGAAATGACTGCATCGTTGATAAAATCCGCAGAAAAAACTGCCCAGCATGTCGCCTTAGAAAGTGCTGTCAGGCTGGCATGGTCCTTGGAG|GCATGATATGGGCTGAATGTAAAGAAATCTGGACTCAGGGCCCCAAGGAATATTTGTTTGAGTTGTGGAACATGCTTGATTTTGGTATGTTAGCAATTTTCGCAGCATCATTCATTGCGAGATTCATGGCATTTTGGCATGCTTCCAAAGCCCAGAGCATCATTGACGCAAATGATACTTTGAAGGACTTGACGAAAGTAACATTGGGAGACAATGTGAAATACTACAATTTGG___CCAGGATAAAGTGGGACCCCTCTGATCCTCAAATAATATCTGAAGGTCTTTATGCAATTGCTGTAGTTTTAAGTTTCTCTAGGATAGCTTATATTTTACCAGCAAATGAAAGCTTTGGACCTCTGCAGATATCACTTGG(AAGAACAGTCAAAGACATCTTCAAGTTCATGGTCATATTCATTATGGTGTTTGTGGCCTTTATGATTGGAATGTTCAATCTCTACTCCTACTACATTGGTGCAAAACAAAATGAAGCCTTCACAAC___AGTTGAAGAGAGTTTTAAGACACTGTTCTGGGCTATATTTGGACTTTCTGAAGTGAAATCAGTGGTCATCAACTATAACCACAAATTCATTGAAAACATTGGTTACGTTCTTTATGGAGTCTATAATGTTACGATGGTCATTGTTTTGCTAAATATGTTAATTGCCATGATCAACAGTTCATTCCAGGAAATTGAG___GATGACGCTGATGTGGAGTGGAAATTTGCAAGGGCCAAACTCTGGTTTTCCTACTTTGAGGAGGGCAGAACACTTCCTGTACCCTTCAATCTGGTGCCGAGTCCAAAGTCCCTGTTTTATCTCTTACTGAAGCTTAAAAAATGGATTTCTGAGCTGTTCCAGGGCCATAAAAAAGGTTTCCAGGAAGATGCAGAGATGAACAAG___ATAAATGAAGAAAAGAAACTTGGAATTTTAGGAAGTCATGAAGACCTTTCAAAATTATCACTTGACAAAAAACAG___GTTGGGCACAATAAACAACCAAGTATAAGGAGCTCAGAAGATTTCCATCTAAATAGTTTCAATAATCCTCCAAGACAATATCAG___AAAATAATGAAAAGGCTCATTAAAAGATATGTACTGCAGGCCCAGATAGATAAGGAGAGTGATGAAGTGAACGAAG___GGGAACTGAAGGAAATTAAGCAGGACATCTCAAGTCTCCGCTATGAACTCCTTGAAGAAAAATCTCAGAATACAGAAGACCTAGCAGAACTTATTAGAGAACTTGGAGAGAAATTATCCATGGAACCAAATCAAGAGGAAACCAATAGATAATGCGAAGACTTCCTTAGAAATTCATATTTATTTGTCCACTTGAAGCCATATTATTTTCTGATTTATTTTCTTAAGTGCCAATGGGCCCACCTTTTAAACAAGAAAACGTTAAATAACTTGGGCCATCCTATCATCTGGAGCCCTAGTATCTAATTTTTTTGGTGATTAAACTCCATTGTTCAGGGTAAAGGCTGTAGATAATGAGGAAAATTATGCCCAGTTGTTTGGTGCTTGTTTTATAAACTGCTTTCTTGGATATAACTAACTCTTGTGATGATGTCATTGCCATGTAGTGTCTGCCTGAAAATGGGTCCCAGCGGACAGGGGCTGACCCACGTTACTCCCCATGCGGTTTTTCCTCTGAAGTTTATTTCAGGTTCCTTCTTGCCTGCTCTGTGGATCCCCTGCTGGGGACTCCCAGCTCTGAAATTTGGGAAAAAGTAGCCCATGGGCCTTTAGAATGCTTTAATCCTTTCTTTAGAATGCTGTTTAAACACCATTTACCCTACTTATCCCTCAATGCACATGATTGATACCGTTCATACAAAATGGTCTTACATCTATGTAAAATTTTCTGATTCATCTATTTGAAAACATTACACTTAACAATGAAAAAAGTTTTTCCTCCACTGAACCCTGGAAACATGGTCCAGTTTTGTGTGTGTGCGTGTGTGTAAATGTGTACACACAGACATAAAGTACTTGCCCTAGTTTGTGGCTAATGTGGACACACAAAAGCTCTTTATGTTATAAATTTTTATTGTCACTAAAAAATTTTACTGTCTAAATAAGTACCTTTTATTGGAGAAAAATCAAAACCCCAAACAAACACTGTGGTTGTTTGGTTCCATTATAGCACAATTTTGTGCCATTTCTGGGAGCATTTACAGATGAATCCCCACACTTAGCCATTGAATGTAAAGGGGAAAAATAAGGTGAGAATTTGTAAATACTTATCTGTTATTTTCAATATGTTCTATCCTTCTACCCAAATATATAAAACAGGAATTTGCATTCATGTGCATTTACCAAGAGGTTGTTGTTGTTACTTACTGATCATGTGAAGTGGTGTCTTAAACAACTAAAAGCGATGAAGGTTCATATGTTTACTCAAAGACCATTGGCATTCAGAGGATGCTGGACATTAACTGGAACTGCTACTTCCAATTCAATAATGGGAGATTTCAAATGCAAATCTTTAACTTCATCTTAAAGATGAAATGGTTGCAGAAAATCTGTTTAGCTCCAACTTTGGCTTAATTTAAATCAAAGAACATTTATGTAACCAGATCAGAAAATACAGCTGAAAATTTATATTCAGTGATTTTGTATTTGTGGATACTACTTATGGAAAAGTTACTTGGTGATACATAAAGATCGATTTTCAAATA)$ MTELKAKGPRAPHVAGGPPSPEVGSPLLCRPAAGPFPGSQTSDTLPEVSAIPISLDGLLFPRPCQGQDPSDEKTQDQQSLSDVEGAYSRAEATRGAGGSSSSPPEKDSGLLDSVLDTLLAPSGPGQSQPSPPACEVTSSWCLFGPELPEDPPAAPATQRVLSPLMSRSGCKVGDSSGTAAAHKVLPRGLSPARQLLLPASESPHWSGAPVKPSPQAAAVEVEEEDGSESEESAGPLLKGKPRALGGAAAGGGAAAVPPGAAAGGVALVPKEDSRFSAPRVALVEQDAPMAPGRSPLATTVMDFIHVPILPLNHALLAARTRQLLEDESYDGGAGAASAFAPPRSSPCASSTPVAVGDFPDCAYPPDAEPKDDAYPLYSDFQPPALKIKEEEEGAEASARSPRSYLVAGANPAAFPDFPLGPPPPLPPRATPSRPGEAAVTAAPASASVSSASSSGSTLECILYKAEGAPPQQGPFAPPPCKAPGASGCLLPRDGLPSTSASAAAAGAAPALYPALGLNGLPQLGYQAAVLKEGLPQVYPPYLNYLRPDSEASQSPQYSFESLPQKICLICGDEASGCHYGVLTCGSCKVFFKRAMEGQHNYLCAGRNDCIVDKIRRKNCPACRLRKCCQAGMVLG|gMIWAECKEIWTQGPKEYLFELWNMLDFGMLAIFAASFIARFMAFWHASKAQSIIDANDTLKDLTKVTLGDNVKYYNLARIKWDPSDPQIISEGLYAIAVVLSFSRIAYILPANESFGPLQISLGRTVKDIFKFMVIFIMVFVAFMIGMFNLYSYYIGAKQNEAFTTVEESFKTLFWAIFGLSEVKSVVINYNHKFIENIGYVLYGVYNVTMVIVLLNMLIAMINSSFQEIEDDADVEWKFARAKLWFSYFEEGRTLPVPFNLVPSPKSLFYLLLKLKKWISELFQGHKKGFQEDAEMNKINEEKKLGILGSHEDLSKLSLDKKQVGHNKQPSIRSSEDFHLNSFNNPPRQYQKIMKRLIKRYVLQAQIDKESDEVNEGELKEIKQDISSLRYELLEEKSQNTEDLAELIRELGEKLSMEPNQEETNR* 22BR005 ENSG00000143398.20 ENSG00000163159.14 +/+ -/- chr1:151227400 chr1:151178145 CDS/splice-site intron inversion 60 40 4 433 918 high out-of-frame . |YL1_nuclear_protein(100%) . . ENSG00000143398.20 ENSG00000163159.14 ENST00000409426.5 ENST00000640458.1 downstream downstream duplicates(4),inconsistently_clipped(2),mismatches(1) ^(GATTTTTTGCTTGGCTACCCGGAGTGAAGCGGCCGGGTTGGGCGATTAACAGGCCGTGGTTAGGAAGGACGGAGAAGGGGCGTTCGCTCCTTTGGGACTTTTCATGCCTCGTTTTTTTTTCAGATGTGGCTTGGTCTGGGCGCAAGGTCCCAGCAGCCAGCTTAAGCTTACTCTTCTGTGAAAGGGGAAAGTATCCCCTGTGGAAAGCGGTTAAACTTGTGGAGGGGGTGCGGGACGTGAGTTCTTCCCCATGCCAGGCGAATGGTGTGGCCTTGAGCTGGTCCAGGAGCCGGCTCGACGTGTCTGAGGGAGGCCCCGGAGGGGGCGGGGAGGTGGCCCACAGAACGCGGGTTCTGTAAAGAGACGTTGGGAAGATTCGATTCCGAGAAGAGGAAGAACCGGATTGAAAGAGAGCCAGGCCGCTGAGGGGGAGGGGGCTGCTAAGATGGCGTCGGCCTCCTCCGGGCCGTCGTCTTCGGTCGGTTTTTCATCCTTTGATCCCGCGGTCCCTTCCTGTACCTTGTCCTCAG___)CAGCATCTGGAATCAAGAGACCCATGGCATCTGAG___GTGCCTTATGCCTCTGGCATGCCCATCAAGAAAATAGGCCATAGAAGTGTTGATTCCTCAGGAGAGACAACATATAAAAAG|AGACATATGAGCGGCTCGAGGCTGATgAAAAGAAGCAGGTTCATAAGAAGCGGAAGTGCCCCGGGCCCATAATCACCTATCATTCAGTGACAGTGCCACTTGTTGGGGAGCCAGGCCCCAAGGAAGAGAACGTTGACATAGAAGG___ACTTGATCCTGCTCCCTCGGTGTCTGCATTGACTCCTCATGCTGGGACTGGACCCGTCAACCCCCCTGCTCGCTGCTCACGTACCTTCATCACTTTTAGTGATGATGCAACTTTCGAGGAATGGTTCCCCCAAGGGCGGCCCCCAAAAGTCCCTGTTCG$ MASASSGPSSSVGFSSFDPAVPSCTLSSAASGIKRPMASEVPYASGMPIKKIGHRSVDSSGETTYKK|rhmsgsrlmkrsrfirsgsapgp* 22BR005 ENSG00000170142.12 ENSG00000254529.1 +/+ -/- chr3:23811510 chr11:18864534 CDS/splice-site exon translocation 69 25 4 523 75 high out-of-frame . Ubiquitin-conjugating_enzyme(100%)| . . ENSG00000170142.12 ENSG00000254529.1 ENST00000306627.8 ENST00000524957.1 downstream downstream duplicates(10),mismatches(2) ^(ATTGCCTGTTTAATAGTTGCTGTTGCTGCACTTCCGCTTCTCTCCCAGCGAGAGAGAGACACGAGTGGCCAGGCCCAGCCGCAGCCGCAGCAGCAGCCGCCGCGGCGGCACGGAGGAGC)CAGACACAAAGAGAG___GGGCTGTTTGCGGGGTGGGGTGGGGGGTTCGCTATGTCGGATGACGATTCGAGGGCCAGCACCAGCTCCTCCTCATCTTCGTCTTCCAACCAGCAAACCGAGAAAGAAACAAACACCCCCAAGAAGAAGGAGAGTAAAGTCAGCATGAGCAAAAACTCCAAACTCCTCTCCACCAGCGCCAAGAG___AATTCAGAAGGAGCTGGCGGACATCACTTTAGACCCTCCACCTAATTGCAG|GGGCACCAGACTAGGGTTTCTGTGCATGGATCCAACCATCCCAGCCTTGGGTACAGAACTGACATCAATCAATAGGACCGAGGAGACCCATCTTCAACATTGTGGCATGGAGATCATGATCCTCATGTTGCTGCTCCTCATCGTTGACCTGGTCCAGCTGGCAGGAAATGCAGTCATTTCCTCTGGCTCCTGGGATTCCGCCTGCACAGGAACACCTTCTCCCTCTACACCCTCAACCTGGCCGGGGCCGACTTCTTCCTCTGCTCCCAGATTTTAGAAATTGTGAATTTCTACCATGACTTCTTCCTTTCCATCTCCACCTATTTCACCACTGTGATGACCTTTCTCTACTTTACAGGCCTGAGCATGCTGGGCTCCATCAGCACCAAGCACTGCCTGTCCATCCTGTGGCCCATCTAGTA(CCGCTGCCACCACCCCACACACCTGTCAGCAGTCGTGTGTCCTGCTCTGGGCCCTGTCCCTGCTGCAGAGCATCCTGGAATGGATGTTCTGTGGCTTCCTGTCTAGTGGTGCTGATTCTGTTTGGTGTGAAACATCAGATTTCATCACAGTCACATGGCTGATTTTTTTATGTGTGGTTCTCTGCGGGTCCAGCCCGGTCCTGCTGGTCAGGATCCTTTGTGGATCCCGGAAGATGCCCTTGACCAGGCTGTACATGACCATCCTGCTCAGAGTGCTGGTCTTCCTCCTCTGTGACCTGCCCTTTGGCATTCAGTGATTCCTATTTTTCTGGATCCACGTGGATTTGTCACGTTCGTCTAGTTTCCATTTTCCTGTCCACTCTTAACAGCAGTGCCAACCCCATTATTTACTTCTTCATGGGCTCCTTTAGGCAGCTTCAAAACAGGAAGACTCTCTAGCTGGTTCTCCAGAGGGCTCTGCAGGACACGCCTGAGGTGGAAGAAGGCAGATGGCGGCTTTCTGAGGAAACCCTGGAGCTGTCATGAAGCAGATTG)$ MSDDDSRASTSSSSSSSSNQQTEKETNTPKKKESKVSMSKNSKLLSTSAKRIQKELADITLDPPPNCr|gtrlgflcmdptipalgteltsinrteethlqhcgmeimilmllllivdlvqlagnavissgswdsactgtpspstpstwpgptsssaprf* 22BR005 ENSG00000006125.18 ENSG00000154760.14 +/+ -/+ chr17:35627727 chr17:35445223 intron CDS duplication/5'-5' 28 24 0 482 102 high out-of-frame . Adaptin_N_terminal_region(100%)| . . ENSG00000006125.18 ENSG00000154760.14 ENST00000621914.4 . downstream upstream duplicates(2) ^(CTGCCCACCATCTTTGTCCCTGGCAAAGTGGGTTTTGCGCAGTGGCTTAGACCTAGAAAAGAATCGTGACGGGCAGGAAACCATTACACCACCACCTGGGCTGTGCTCTCCGGCTCCCGCCGCCACCCCCGCCCTCGCCTTCGCCTCCGCCTCCG___GTGCACATTAAAGATCCAAAGTCATGACTGACTCCAAGTATTTCACAACCAATAAAAAAG___GAGAAATATTTGAACTAAAAGCTGAACTCAACAATGAAAAGAAAGAAAAGAGAAAGGAGGCTGTGAAGAAAGTGATTGCTGCTATGACCGTGGGGAAGGATGTTAG___TTCTCTCTTTCCAGACGTAGTGAACTGTATGCAGACTGACAATCTGGAACTAAAGAAGCTTGTGTATCTCTACTTGATGAACTACGCCAAGAGTCAGCCAGACATGGCCATCATGGCTGTAAACAGCTTTGTGAAG___GACTGTGAAGATCCTAATCCTTTGATTCGAGCCTTGGCAGTCAGAACCATGGGGTGCATCCGGGTAGACAAAATTACAGAATATCTCTGTGAGCCGCTCCGCAAGTGCTTGAAGGATGAGGATCCCTATGTTCGGAAAACAGCAGCAGTCTGCGTGGCAAAACTCCATGATATCAATGCCCAAATGGTGGAAGATCAGGGATTTCTGGATTCTCTACGGGATCTCATAGCAGATTCAAATCCAATG___GTGGTGGCTAATGCCGTAGCGGCATTATCTGAAATCAGTGAGTCTCACCCAAACAGCAACTTACTTGATCTGAACCCACAGAACATTAATAAGCTGCTGACAGCCCTGAATGAATGCACTGAATGGGGCCAGATTTTCATCCTGGACTGCCTGTCTAATTACAACCCTAAAGATGATCGGGAGGCTC)AGAG___CATCTGTGAGCGGGTAACTCCCCGGCTATCCCATGCCAACTCAGCAGTGGTGCTTTCAGCGGTAAAAGTCCTAATGAAGTTTCTAGAATTGTTACCTAAGGATTCTGACTACTACAATATGCTGCTGAAGAAGTTAGCCCCTCCACTTGTCACTTTGCTGTCTGGGGAGCCAGAAGTGCAGTATGTCGCCCTGAGGAACATCAACTTAATTGTCCAGAAAAG___GCCTGAAATCTTGAAGCAGGAAATCAAAGTCTTCTTTGTGAAGTACAATGATCCCATCTATGTTAAACTAGAGAAGTTGGACATCATGATTCGTTTGGCATCTCAAGCCAACATTGCTCAG___GTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGG|AAATCGAATGCCTGTCTTGAATTCATGTGAAGCACAGAGGTGCCAGATCTACAGTATAATGAAGAACTAAGGCTGCAAATGCGGGAATTGAAAGAACCATCTTTAAGGAAAGGATCACCACTCCAAGATTTAACAAAAATATAAAAACACCTTCCGTGTTGCTTAGTCTCAAAGAAAGCCTGCAAATATGGATACTGAATAAGCTTTCTCAAGGATTCTTCTAAATCCAGTCCCATCTCTGTGGGACGCTCATCCCTGTTGGCCATTTCCATCTGAATCACTCCTCCTCCTGAGTTTAATAAAGCACACGCGGCCCGTATAACTCTCG MTDSKYFTTNKKGEIFELKAELNNEKKEKRKEAVKKVIAAMTVGKDVSSLFPDVVNCMQTDNLELKKLVYLYLMNYAKSQPDMAIMAVNSFVKDCEDPNPLIRALAVRTMGCIRVDKITEYLCEPLRKCLKDEDPYVRKTAAVCVAKLHDINAQMVEDQGFLDSLRDLIADSNPMVVANAVAALSEISESHPNSNLLDLNPQNINKLLTALNECTEWGQIFILDCLSNYNPKDDREAQSICERVTPRLSHANSAVVLSAVKVLMKFLELLPKDSDYYNMLLKKLAPPLVTLLSGEPEVQYVALRNINLIVQKRPEILKQEIKVFFVKYNDPIYVKLEKLDIMIRLASQANIAQVLAELKEYATEVDVDFVRKAVRAIGRCAIKVE|eiecls* 22BR005 ENSG00000187231.14 ENSG00000287564.1 -/- +/- chr2:179191787 chr10:31130171 CDS/splice-site intron translocation/5'-5' 28 23 0 87 57 high out-of-frame . . . . ENSG00000187231.14 ENSG00000287564.1 ENST00000428443.8 . upstream downstream duplicates(3) ^(CTTCCTCCTTCCCGCGCCGGGCGGGTTGCTGTACCGCCGTCACCCGGGCGCGCGCGGGGTCGCGCGGACGCGGCTCGGGCCGCGGGTGCCGAGAGGTCGCCGGGCCACCCGCACCCCCGCTCCCCGCCTGACGCACGGAGGGGCCGGGACGCGATTTGCCGCGAGTGACTGGAGCCGCAGCCGTCGCCGCTGCTGCCGCCGCCGCCCGGGCCCGCTCCGCCCCCAGCCCGCCTTCCTCCCGCCGCGCCCTCCGCCTCCGCC)CGCACCTCGCTAGCGTTCCCCTGTCTTCCCCAACGCCCCGGAGCCGCCGGCCGCTAGCGTCAGCGCCAGCCAG___AATTAAGGAAGTTCACTGGAGTAAAATGGAGGCCTCAGTAATATTACCCATTCTGAAGAAAAAACTAGCCTTCCTTTCAG|ATGGACAGCCCTGAAACATCTTTCATGCAACTCCTCAGGCAGCCCAGAAACAGCCAGGAACCATTCGCCAGGAGCTGTGGCCAACTTAATAACTCATCCTTGTATTGGTTTCCATCCTCTGTCCTTCATCCGTCTTGTCTTTTACTCCTACTTGCTGGATCACACATCCCAATAAATTTTTGCACTCAAGCGTTTGTCTCAGGATCTGCTGTCCGGAGGACCAAGACTAAGTTCgAG MEASVILPILKKKLAFLS|dgqp* 22BR005 ENSG00000108256.9 ENSG00000178082.6(36159),ENSG00000108255.7(6230) -/- ./+ chr17:29285992 chr17:29240633 CDS/splice-site intergenic inversion 9 16 1 873 55 high out-of-frame . . . . ENSG00000108256.9 . ENST00000225388.9 . upstream upstream duplicates(1),inconsistently_clipped(1) ^(AGATATACTGAGTGAGCCCTGAGAAGCAGTCTCAGATCCTGACGGTGCAGCAGCCCGCAGCCTCAGCCAGGGAGTCCCAGCCGCTTTCAATGGAGGAGAAGCCCGGCCAGCCACAGCCTCAGCACCATCACAGCCACCACCATCCGCACCATCACCCTCAGCAGCAGCAGCAGCAGCCGCACCACCACCACCATTATTATTTCTACAACCACAGCCACAACCACCACCACCACCATCATCACCAGCAGCCTCACCAATACCTGCAGCATGGAGCCGAGGGCAGCCCCAAGGCCCAGCCAAAGCCGCTGAAACATGAGCAGAAACACACCCTCCAGCAGCACCAGGAAACGCCGAAGAAGAAAACAG___GCTATGGTGAACTAAACGGTAATGCTGGAGAAAGAGAAATATCTTTAAAGAACCTGAGTTCTGATGAAGCCACCAACCCTATTTCCAGGGTCCTCAATGGCAACCAGCAAGTTGTAGACACTAGCCTGAAGCAGACTGTAAAGGCCAACACCTTTGGGAAAGCAGGAATTAAAACCAAGAATTTCATTCAGAAAAACAGTATGGACAAAAAGAATGGGAAGTCTTATGAAAATAAATCTGGAGAGAATCAGTCTGTAGATAAGTCTGATACTATACCAATTCCAAATGGTGTGGTAACAAATAATTCTGGTTATATTACTAATGGTTATATGGGTAAAGGAGCAGATAATGATGGTAGTGGATCTGAGAGCGGATATACAACTCCTAAAAAAAGGAAAGCTAGGCGCAATAGTGCCAAGGGTTGTGAAAACCTTAATATAGTGCAGGACAAAATAATGCAACAAGAGACCAGTGTCCCAACCTTAAAACAGGGACTTGAAACTTTCAAGCCTGACTATAGTGAACAAAAGGGAAATCGAGTAGATGGTTCGAAGCCCATTTGGAAGTATGAAACTGGGCCTGGAGGAACAAGTCGAGGAAAACCTGCTGTGGGTGATATGCTTCGGAAAAGCTCAGATAGTAAACCTGGTGTGAGCAGCAAAAAGTTTGATGATCGGCCCAAAGGAAAGCATGCTTCAGCTGTTGCCTCCAAAGAGGACTCGTGGACCCTATTTAAACCACCCCCAGTTTTTCCAGTGGACAATAGCAGTGCTAAAATAGTTCCTAAAATAAGTTATGCAAGCAAAGTTAAGGAAAACCTCAACAAAACTATACAGAACTCTTCTGTGTCACCAACTTCATCTTCATCATCTTCATCATCTACCGGGGAAACTCAGACCCAATCATCAAGTCGCTTATCCCAGGTCCCTATGTCAGCGCTGAAATCTGTTACTTCTGCCAACTTTTCTAATGGGCCTGTTTTAGCAGGGACTGATGGAAATGTTTATCCTCCAGGGGGTCAGCCACTGCTAACTACTGCTGCTAATACTCTAACACCCATCTCTTCTGGGACAGATTCAGTTCTCCAGGACATGAGTCTAACTTCAGCAGCTGTTGAACAAATTAAGACTAGCCTTTTTATCTATCCTTCAAATATGCAAACTATGCTGTTGAGCACAGCACAAGTGGATCTGCCCTCTCAGACAGATCAGCAAAACCTGGGGGATATCTTCCAGAATCAGTGGGGTTTATCATTTATAAATGAGCCCAGTGCTGGCCCTGAGACTGTTACTGGGAAGTCATCAGAGCATAAAGTGATGGAGGTGACATTTCAAGGAGAATATCCTGCTACTTTGGTTTCACAGGGTGCTGAAATAATTCCCTCAGGAACTGAGCATCCTGTGTTTCCCAAGGCTTACGAGCTGGAGAAACGGACTAGTCCTCAAGTTCTGGGTAGCATTCTAAAATC)TGGGACTACTAGTGAGAGTGGAGCCTTATCCTTGGAACCCAGTCATATAGGTGACCTGCAGAAAGCAGACACCAGTAGTCAAGGTGCTTTAGTGTTTCTCTCAAAGGACTACGAGATAGAAAGTCAAAATCCTCTGGCCTCTCCTACGAACACTTTGTTAGGCTCTGCCAAAGAACAGAGATACCAGAGAGGCCTAGAAAGGAATGATAGCTGGGGTTCTTTTGACCTGAGGGCTGCTATTGTATATCACACTAAAG|GATGCTGTGGTTGGCTGGTCAGCCTGGGTAAGCCAGGGAAGATTTCCTGCAGGTGGTGACTCTTTACACTGTCTTCTCCAAAGGACAAAAGAGAAGCAGATTGGCAGAGGCGGATCATGGGATGCTCCAGACAAAAGCAAGAGGAGACTAGGGTTGGCAGATAAAACGCAGGATACATACCCAATTAAAGCTGAGTTTCAGA MEEKPGQPQPQHHHSHHHPHHHPQQQQQQPHHHHHYYFYNHSHNHHHHHHHQQPHQYLQHGAEGSPKAQPKPLKHEQKHTLQQHQETPKKKTGYGELNGNAGEREISLKNLSSDEATNPISRVLNGNQQVVDTSLKQTVKANTFGKAGIKTKNFIQKNSMDKKNGKSYENKSGENQSVDKSDTIPIPNGVVTNNSGYITNGYMGKGADNDGSGSESGYTTPKKRKARRNSAKGCENLNIVQDKIMQQETSVPTLKQGLETFKPDYSEQKGNRVDGSKPIWKYETGPGGTSRGKPAVGDMLRKSSDSKPGVSSKKFDDRPKGKHASAVASKEDSWTLFKPPPVFPVDNSSAKIVPKISYASKVKENLNKTIQNSSVSPTSSSSSSSSTGETQTQSSSRLSQVPMSALKSVTSANFSNGPVLAGTDGNVYPPGGQPLLTTAANTLTPISSGTDSVLQDMSLTSAAVEQIKTSLFIYPSNMQTMLLSTAQVDLPSQTDQQNLGDIFQNQWGLSFINEPSAGPETVTGKSSEHKVMEVTFQGEYPATLVSQGAEIIPSGTEHPVFPKAYELEKRTSPQVLGSILKSGTTSESGALSLEPSHIGDLQKADTSSQGALVFLSKDYEIESQNPLASPTNTLLGSAKEQRYQRGLERNDSWGSFDLRAAIVYHTK|gccgwlvslgkpgkiscrw* 22BR005 ENSG00000186007.10 ENSG00000162873.14 -/- -/- chr1:205449868 chr1:205339808 5'UTR/splice-site CDS/splice-site deletion/read-through 4 17 0 32 29 high . . |Kelch_motif(100%) . . ENSG00000186007.10 ENSG00000162873.14 ENST00000367154.5 ENST00000539253.5 upstream downstream duplicates(2) ^AGTGGCTCTGCGGGGAATTGTGAGGCGGACTGCGAGGGAAAGGGGGCCTTGTTGAGTCCGCCAG|ATTACCGAGTATATGCGGCAGGCGGGATGGGCCTGGACCTACGTCCACACAACCACCTCCAACACTATGACATGCTGAAGGACATGTGGGTGTCCCTAGCACCCATGCCCACCCCGAGATATGCTGCCACCTCCTTCCTCCGAGGCTCCAAGATCTACGTGCTGG___GGGGACGACAGTCCAAGTACGCGGTCAACGCTTTCGAGGTCTTTGACATCGAGACTCGCTCCTGGACCAAGTTTCCCAACATTCCCTATAAGCGGGCCTTCTCCAGCTTTGTGACCCTGGACAACCACTT(GTACAGCCTAGGAGGCCTGCGGCAAGGTCGCCTCTACCGGCAGCCCAAGTTCCTGCGGACGATGGACGTGTTCGACATGGAACAGG___GGGGATGGCTGAAGATGGAACGATCGTTCTTCCTCAAGAAGCGGCGGGCAGATTTTGTGGCTGGCTCTCTGAGTGGACGGGTCATAGTGGCTGGGGGACTTG___GGAATCAACCCACTGTCCTGGAGACGGCGGAAGCATTCCACCCAGGGAAGAACAAATGGGAGATCCTCCCTGCCATGCCCACACCCCGCTGTGCCTGCTCCAGCATAGTCGTCAAGAACTGCCTCCTCGCCGTGGGAGGTGTCAACCAGGGTCTGAGTGACGCAGTGGAGGCCCTGTGTGTCTCTGACTCCTAGCTGTCTCTGGGCTCAGTACCTTTGCCCTGGACCATATCACTTCACTCTTAACATGAGGAATGATCTTGTCCAAGCAGTCGGGGCTACTTCCAAGAATGTCAGCTCCTGTTAGCAACCAGTGGAGTCTGGCCTTGGGGCTCTAAGTTGACCTCTCTATAGCTCCAAATCCTACCAATCTCAGAAAACTGTAAGAGGCACAGATGACTCCACCAGCTGCAGAGCTGACTCTGAAGAGAGTCTTCACTTACTGCACAGGCAAAGAAAGGCACAGGAATATTTCCTACCTCTCCCTCCTGTGAGTCCCACCTCCCCCCACCCCCATCTCCAGGAGGCAGGTAGAGCAGTTCTGACCGAGAGGATAGACTGCTGTTGCTGTCTTTCCCCAGCTCTGAACTAGTTTTAAGGTAGCTTAGGATGAAAAATGGAGAATGATTGGGGGTTCCAAACCACTTTCTTCTCCCTTGGCTTATATCTCTTCACCATTTGGTGGTCAACTGTGGGCCTACCCTGGACCTCATCTACTCAGCGAGAATTGGACATGAAGCTAGAGGCAGCTGCCTTGGAAGGGAAGTCAGGCTCACTTGGACAGCCCAGGCCATGGCAGGAAGAATCCCTTCCTCTTGGGGTCCTTGATGGGCATGTGTGATGGGGAAGGAGCAGTCTCCCAGCCCTGGGTCTGCTCCCCACATCTCTCCTAATTCCACTTCACCTTTTGCCACCCCCTCCCCACCAGAGGCCTAGCCCTTTTGTCACCGAAGGCCCCCAGAGTGTTTCTGTGTGAAACCCTCTCATTTACACTGTGGCATCAAAATCCACAAAAGATGGATTAATTGCACTCTGGTTAATAGCAGCAGCACAATGATTAAAATCTATATTCCTATCTTCTCTAGCACCCTGGTGTGGGGATGGGGCGGAAGGGTGTCTTGAGGGGCAGGGAGGACCCCATAAAACAATCCCTCCTGCATTCTCAGGCTAAATAGGGCCCCCAGTGACTACCTGTTCTTGGCTGTCCCCTCTGAAGAGCTCTGCCTTCTCACAGCCACCACCAGTTGCCCCACTCCCAGGAAAACAGCACATGTTCTTCTTCTCCTGCCTTGAGACTGCGTGTTAGTCTTCCATTCATAACTCATCAGCAGCTCAGTCCTTCTTATGTCTAGTCTCAGTTCATTCAGCCAAAGCTCATTTTTGTCCTATCCAAAGTAGAAAGGGTTCTTTTAGAAAACTTGAAGAATGTGCCTCCTCTTAGCATCTGTTTCTGACTCCCAGTTATTTTTAAAATAAATGATGAATAAAATGCCTGCCCTGAAGGGTTCTGGAGGAGTCAGGTATCACTC)$ . 22BR005 ENSG00000123992.19 ENSG00000115232.14 -/- +/+ chr2:219384366 chr2:181485881 CDS/splice-site CDS/splice-site inversion 13 5 2 152 40 high in-frame . Aminopeptidase_I_zinc_metalloprotease_(M18)(100%)|FG-GAP_repeat(100%),Integrin_alpha(100%) . . ENSG00000123992.19 ENSG00000115232.14 ENST00000523282.5 ENST00000397033.7 upstream upstream . ^(AAGGCAGGGGAAGGATCCGGCAAAAAAGGCACACGGTTCAGGCCTGTCCACTCCAGCCTTGGGAGGAGGTGAGCAGGTCACCATGGCTCGGAGCCTCTCCATCATGTTCGTCCCCAACAGCTGGCTCAATGGCTACCACAAG___GTGGCCATGAACGGTAAGGCCCGCAAAGAGGCGGTGCAGACTGCGGCTAAGGAACTCCTCAAGTTCGTGAACCGGAGTCCCTCTCCTTTCCATG___CTGTGGCTGAATGCCGCAACCGCCTTCTCCAGGCTGGCTTCAGTGAACTCAAGGAGACTGAGAAATGGAATATTAAGCCCGAGAGCAAG___TACTTCATGACCAGGAACTCCTCCACCATCATAGCTTTTGCTGTAGGGGGCCAGTACGTTCCTGGCAATGGCTTCAGCCTCATCGGGGCCCACACGGACAGCCCCTGCCTCCGG___GTGAAACGTCGGTCTCGCCGCAGCCAGGTGGGCTTCCAGCAAGTCGGTGTGGAGACCTATGGTGGTGGGATCTGGAGCACCTGGTTTGACCGTGACCTGACTCTGGCTGGACGCGTCATTGTCAAG___TGCCCTACCTCAGGTCGGCTGGAGCAGCAGCTGGTGCACGTGGAGCGGCCCATTCTTCGCATCCCACACCTGGCCATCCATCTGCAGCGAAATATCAACGAGAACTTTGGGCCCAACACAGAGATGCATCT___AGTCCCCATTCTTGCCACAGCCATCCAGGAGGAGCTGGAGAAGGGGACTCCTGAGCCAGGGCCTCTCAATGCTGTG___GATGAGCGGCACCATTCGGTCCT)CATGTCCCTGCTCTGTGCCCATCTGGGGCTGAGCCCCAAGGACATAGTGGAGATGGAGCTCTGCCTTGCAGACACCCAGCCTGCG___GTCTTGGGTGGTGCCTATGATGAGTTCATCTTTGCTCCTCGGCTGGACAATCTGCACAGCTGCTTCTGTGCCCTGCAG|GGAGCAGTAATGAATGCAATGGAAACAAACCTCGTTGGAAGTGACAAATATGCTGCAAGATTTGGGGAATCTATAGTTAATCTTGGCGACATTGACAATGATGGCTTTGAAG___ATGTTGCTATCGGAGCTCCACAAGAAGATGACTTGCAAGGTGCTATTTATATTTACAATGGCCGTGCAGATGGG(ATCTCGTCAACCTTCTCACAG___AGAATTGAAGGACTTCAGATCAGCAAATCGTTAAGTATGTTTGGACAGTCTATATCAGGACAAATTGATGCAGATAATAATGGCTATGTAG___ATGTAGCAGTTGGTGCTTTTCGGTCTGATTCTGCTGTCTTGCTAAG___GACAAGACCTGTAGTAATTGTTGACGCTTCTTTAAGCCACCCTGAGTCAGTAAATAGAACGAAATTTGACTGTGTTGAAAATGGATGGCCTTCTGTGTGCATAGATCTAACACTTTGTTTCTCATATAAGGGCAAGGAAGTTCCAGGTTACATTG___TTTTGTTTTATAACATGAGTTTGGATGTGAACAGAAAGGCAGAGTCTCCACCAAGATTCTATTTCTCTTCTAATGGAACTTCTGACGTGATTACAGGAAGCATACAGGTGTCCAGCAGAGAAGCTAACTGTAGAACACATCAAGCATTTATGCGG___AAAGATGTGCGGGACATCCTCACCCCAATTCAGATTGAAGCTGCTTACCACCTTGGTCCTCATGTCATCAGTAAACGAAGTACAGAGGAATTCCCACCACTTCAGCCAATTCTTCAGCAGAAGAAAGAAAAAGACATAATGAAAAAAACA___ATAAACTTTGCAAGGTTTTGTGCCCATGAAAATTGTTCTGCTGATTTACAGGTTTCTGCAAAGATTGGGTTTTTGAA___GCCCCATGAAAATAAAACATATCTTGCTGTTGGGAGTATGAAGACATTGATGTTGAATGTGTCCTTGTTTAATGCTGGAGATGATGCATATGAAACGACTCTACATGTCAAACTACCCGTGGGTCTTTATTTCATTAAGATTTTAGAGCTG___GAAGAGAAGCAAATAAACTGTGAAGTCACAGATAACTCTGGCGTGGTACAACTTGACTGCAGTATTGGCTATATATATGTAGATCATCTCTCAAGG___ATAGATATTAGCTTTCTCCTGGATGTGAGCTCACTCAGCAGAGCGGAAGAGGACCTCAGTATCACAGTGCATGCTACCTG___TGAAAATGAAGAGGAAATGGACAATCTAAAGCACAGCAGAGTGACTGTAGCAATACCTTTAAAATATGAGGTTAAGCTGACTGTTCATGG___GTTTGTAAACCCAACTTCATTTGTGTATGGATCAAATGATGAAAATGAGCCTGAAACGTGCATGGTGGAGAAAATGAACTTAACTTTCCAT___GTTATCAACACTGGCAATAGTATGGCTCCCAATGTTAGTGTGGAAATAATGGTACCAAATTCTTTTAGCCCCCAAACTGATAAGCTGTTCAACATTTTGGATGTCCAG___ACTACTACTGGAGAATGCCACTTTGAAAATTATCAAAGAGTGTGTGCATTAGAGCAGCAAAAGAGTGCAATGCAGACCTTGAAAGGCATAGTCCGGTTCTTGTCCAAGACTGATAAGAGGCTATTG___TACTGCATAAAAGCTGATCCACATTGTTTAAATTTCTTGTGTAATTTTGGGAAAATGGAAAGTGGAAAAGAAGCCAGTGTTCATATCCAACTGGAAGGCCGGCCATCCATTTTAGAAATG___GATGAGACTTCAGCACTCAAGTTTGAAATAAGAGCAACAGGTTTTCCAGAGCCAAATCCAAGAGTAATTGAACTAAACAAGGATGAGAATGTTGCGCAT___GTTCTACTGGAAGGACTACATCATCAAAGACCCAAACGTTATTTCACCATAGTGATTATTTCAAGTAGCTTGCTACTTGGACTTATTGTACTTCTATTGATCTCATATGTTATGTGGAAG___GCTGGCTTCTTTAAAAGACAATACAAATCTATCCTACAAGAAGAAAACAGAAGAGACAGTTGGAGTTATATCAACAGTAAAAGCAATGATGATTAAGGACTTCTTTCAAATTGAGAGAATGGAAAACAGACTCAGGTTGTAGTAAAGAAATTTAAAAGACACTGTTTACAAGAAAAAATGAATTTTGTTTGGACTTCTTTTACTCATGATCTTGTGACATATTATGTCTTCATGCAAGGGGAAAATCTCAGCAATGATTACTCTTTGAGATAGAAGAACTGCAAAGGTAATAATACAGCCAAAGATAATCTCTCAGCTTTTAAATGGGTAGAGAAACACTAAAGCATTCAATTTATTCAAGAAAAGTAAGCCCTTGAAGATATCTTGAAATGAAAGTATAACTGAGTTAAATTATACTGGAGAAGTCTTAGACTTGAAATACTACTTACCATATGTGCTTGCCTCAGTAAAATGAACCCCACTGGGTGGGCAGAGGTTCATTTCAAATACATCTTTGATACTTGTTCAAAATATGTTCTTTAAAAATATAATTTTTTAGAGAGCTGTTCCCAAATTTTCTAACGAGTGGACCATTATCACTTTAAAGCCCTTTATTTATAATACATTTCCTACGGGCTGTGTTCCAACAACCATTTTTTTTCAGCAGACTATGAATATTATAGTATTATAGGCCAAACTGGCAAACTTCAGACTGAACATGTACACTGGTTTGAGCTTAGTGAAATTACTTCTGGATAATTATTTTTTTATAATTATGGATTTCACCATCTTTCTTTCTGTATATATACATGTGTTTTTATGTAGGTATATATTTACCATTCTTCCTATCTATTCTTCCTATAACACACCTTTATCAAGCATACCCAGGAGTAATCTTCAAATCTTTTGTTATATTCTGAAACAAAAGATTGTGAGTGTTGCACTTTACCTGATACACGCTGATTTAGAAAATACAGAAACCATACCTCACTAATAACTTTAAAATCAAAGCTGTGCAAAGACTAGGGGGCCTATACTTCATATGTATTATGTACTATGTAAAATATTGACTATCACACAACTATTTCCTTGGATGTAATTCTTTGTTACCCTTTACAAGTATAAGTGTTACCTTACATGGAAACGAAGAAACAAAATTCATAAATTTAAATTCATAAATTTAGCTGAAAGATACTGATTCAATTTGTATACAGTGAATATAAATGAGACGACAGCAAAATTTTCATGAAATGTAAAATATTTTTATAGTTTGTTCATACTATATGAGGTTCTATTTTAAATGACTTTCTGGATTTTAAAAAATTTCTTTAAATACAATCATTTTTGTAATATTTATTTTATGCTTATGATCTAGATAATTGCAGAATATCATTTTATCTGACTCTGCCTTCATAAGAGAGCTGTGGCCGAATTTTGAACATCTGTTATAGGGAGTGATCAAATTAGAAGGCAATGTGGAAAAACAATTCTGGGAAAGATTTCTTTATATGAAGTCCCTGCCACTAGCCAGCCATCCTAATTGATGAAAGTTATCTGTTCACAGGCCTGCAGTGATGGTGAGGAATGTTCTGAGATTTGCGAAGGCATTTGAGTAGTGAAATGTAAGCACAAAACCTCCTGAACCCAGAGTGTGTATACACAGGAATAAACTTTATGACATTTATGTATTTTTAAAAAACTTTGTATCGTTATAAAAAGGCTAGTCATTCTTTCAGGAGAACATCTAGGATCATAGATGAAAAATCAAGCCCCGATTTAGAACTGTCTTCTCCAGGATGGTCTCTAAGGAAATTTACATTTGGTTCTTTCCTACTCAGAACTACTCAGAAACAACTATATATTTCAGGTTATCTGAGCACAGTGAAAGCAGAGTACTATGGTTGTCCAACACAGGCCTCTCAGATACAAGGGGAACACAATTACATATTGGGCTAGATTTTGCCCAGTTCAAAATAGTATTTGTTATCAACTTACTTTGTTACTTGTATCATGAATTTTAAAACCCTACCACTTTAAGAAGACAGGGATGGGTTATTCTTTTTTGGCAGGTAGGCTATATAACTATGTGATTTTGAAATTTAACTGCTCTGGATTAGGGAGCAGTGAATCAAGGCAGACTTATGAAATCTGTATTATATTTGTAACAGAATATAGGAAATTTAACATAATTGATGAGCTCAAATCCTGAAAAATGAAAGAATCCAAATTATTTCAGAATTATCTAGGTTAAATATTGATGTATTATGATGGTTGCAAAGTTTTTTTGTGTGTCCAATAAACACATTGTAAAAAAAAGAATTTGAATTGATATCTAAAAACAGAATTTGAATTGATATTTCATCTTGACTTTTAAAGCCCTAGAGGCTAATTGTTAGTAACATCAATTTCTATTAGGATATCCGTTTGGCCACACAGCAGGAGGTTAGAGCAATGGAGCATTACTGAGTTCCTCCCCCTGTCAGATCAGCAGCAGCATTAGATTCTCATAGAAGTGCGAACCATATGGTGAACTGGTATGTGAGGGATCTAGAGTGCCATGTTCCTCAAGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGTTCATCCTGAAACCATTCCCCCATCCACGGAAAAATTGTCTTCCATGAAACTGGTCCCAAAAAGGGTGGGGACCACAGGTTTAAAGCATGGCCACATTTCTTTATATTAAAATTCTAGTTTGTACATTTCTTTTAGAAACAATTACATGTTACTTTGGAATCATTTCTTCCATGCTTCCTCCATAAAGACTGATAAGTCTTGGATGCAATCTGTAAAGAAAATACATTATTTCATCAACTTATTTTGTTGTTTTTCACATACACCTAATAAGTATGGTACACAATGCCAATGCCAAATACAAATTGATAACAAACACAGCATTCCCAACAGAGCTGTAATCTAGAAAACTGAGAAGGTCTGATTGATAAATCATCAACAACAATAATTGCTCTAAAACCTCCTTAACTGACTTCCTTGATTGTCCAATGCTCTCCATTACCTCTGTAAAACAGTCAGTTATGCCTCTAGAACACCCATGTCTAGTGGGCACCCCTGCATGCTTCTTCTAACCACTGAGTGTCACAATGCCTACCAAGAATGCGTTTGCAGGTTCCTAAACCTGTTTATACCAGTTGCTATGTAAAATTGTTCCCAAGGGAAGTTGAATGCTCTGTAAAGGCCTAATAAAAGCAAATTACTGAACAAAACATGTTACAGTAATTATGAGTGAGAGGAAACTAAGATGGAAGGATAAAAATCTAACACTTTACTATTCAGATGGCTCCACTAAAAGATTTAAGATCTTGATCCATTTTTAAAAATCCAAAATGGAAGTTGTAGACATTATCTGTAGTTTATGCACAACAATAAATTAGAAAGCCAATGTAGACACGCATAACCAAAGAAAATGCCTTGGGTCTACATAACAGTTGAATAAATGTAAAGTTGCTTTTTATTTATTGAAA)$ MARSLSIMFVPNSWLNGYHKVAMNGKARKEAVQTAAKELLKFVNRSPSPFHAVAECRNRLLQAGFSELKETEKWNIKPESKYFMTRNSSTIIAFAVGGQYVPGNGFSLIGAHTDSPCLRVKRRSRRSQVGFQQVGVETYGGGIWSTWFDRDLTLAGRVIVKCPTSGRLEQQLVHVERPILRIPHLAIHLQRNINENFGPNTEMHLVPILATAIQEELEKGTPEPGPLNAVDERHHSVLMSLLCAHLGLSPKDIVEMELCLADTQPAVLGGAYDEFIFAPRLDNLHSCFCALQ|GAVMNAMETNLVGSDKYAARFGESIVNLGDIDNDGFEDVAIGAPQEDDLQGAIYIYNGRADGISSTFSQRIEGLQISKSLSMFGQSISGQIDADNNGYVDVAVGAFRSDSAVLLRTRPVVIVDASLSHPESVNRTKFDCVENGWPSVCIDLTLCFSYKGKEVPGYIVLFYNMSLDVNRKAESPPRFYFSSNGTSDVITGSIQVSSREANCRTHQAFMRKDVRDILTPIQIEAAYHLGPHVISKRSTEEFPPLQPILQQKKEKDIMKKTINFARFCAHENCSADLQVSAKIGFLKPHENKTYLAVGSMKTLMLNVSLFNAGDDAYETTLHVKLPVGLYFIKILELEEKQINCEVTDNSGVVQLDCSIGYIYVDHLSRIDISFLLDVSSLSRAEEDLSITVHATCENEEEMDNLKHSRVTVAIPLKYEVKLTVHGFVNPTSFVYGSNDENEPETCMVEKMNLTFHVINTGNSMAPNVSVEIMVPNSFSPQTDKLFNILDVQTTTGECHFENYQRVCALEQQKSAMQTLKGIVRFLSKTDKRLLYCIKADPHCLNFLCNFGKMESGKEASVHIQLEGRPSILEMDETSALKFEIRATGFPEPNPRVIELNKDENVAHVLLEGLHHQRPKRYFTIVIISSSLLLGLIVLLLISYVMWKAGFFKRQYKSILQEENRRDSWSYINSKSNDD* 22BR005 ENSG00000108306.13 ENSG00000161381.14 -/- -/- chr17:39343180 chr17:39087702 CDS/splice-site CDS/splice-site deletion/read-through 6 14 0 107 78 high out-of-frame . F-box-like(100%)| . . ENSG00000108306.13 ENSG00000161381.14 ENST00000577399.5 ENST00000315392.9 upstream downstream low_entropy(1) ^(GCCAAAGGAAGGGTTGCCCGGCTCCAGCCCTGCACCCCCGACCCCCGGCCTCAGGTGCAGCTCCGCAGCCATCCCCGGACCAGGGCGGGCACTTGGCCTGTTGCTCAGCGCAACCACCCTCGCCCTCCCGAGCCATGCACAGGGAGACAAGCGTCCGGCCCCGGCCCCCCAGGCCTCCCTGCAGCACCCCGTAATGTAATGCACTGGGGCGGGGGAGGCGGGGGAGGCGGCGGCGGCGGCAACCGCGGAGGCGCGGCGGCAGCCGCACTGCCCCAATCTAGACACATCCAGAAGAGGAGGAAAATGGCTCCGAGCAGGGACCGCCTGCTGCACTTTGGGTTCAAGGCGACA___)ATGTTCTCAAATAGTGATGAAGCTGTAATCAATAAAAAACTTCCCAAAGAACTCCTGTTACG|AATCTCGGCGAAGGAGCATCTTTGAATATCACCGCATAGAGCTGGACCCCAGCAAGGTCACCAGCATGTCGGCCGTGGAGTTCACCCCATTGCCGA___CCTGCCTGCAGCATAGGAGCTGTGACGCCTGCATGTCCTCAGACCTGACCTTCAAC(TGCAGCTGGTGCCATGTCCTCCAGAG___ATGCTCCAGTGGCTTTGACCGCTATCGCCAGGAGTGGATGGACTATGGCTGTGCACAGGAG___GCAGAGGGCAGGATGTGCGAGGACTTCCAGGATGAGGACCACGACTCAGCCTCCCCTGACACTTCCTTCAGCCCCTATGATGGAGACCTCACCACTACCTCCTCCTCCCTCTTCATCGACAGCCTCACCACAGAAG___ATGACACCAAGTTGAATCCCTATGCAGGAGGAGACG___GCCTTCAGAACAACCTGTCCCCCAAGACAAAGGGCACTCCTGTGCACCTGGGCACCATCGTGGGCATCGTGCTGGCAGTCCTCCTCGTGGCGGCCATCATCCTGGCTGGAATTTACATCAATGGCCACCCCACATCCAATGCTGCGCTCTTCTTCATCGAG___CGTAGACCTCACCACTGGCCAGCCATGAAGTTTCGCAGCCACCCTGACCATTCCACCTATGCGGAGGTGGAGCCCTCGGGCCATGAGAAGGAGGGCTTCATGGAGGCTGAGCAGTGCTGAGAACACCAAGTCTCCCCTTTGAAGACTTTGAGGCCACAGAAAAGACAGTTAAAGCAAAGAAGAGAAGTGACTTTTCCTGGCCTCTCCCAGCATGCCCTGGGCTGAGATGAGATGGTGGTTTATGGCTCCAGAGCTGCTGCTCGCTTCGTCAGCACACCCCGAATATTGAAGAGGGGGCCAAAAAACAACCACATGGATTTTTTATAGGAACAACAACCTAATCTCATCCTGTTTTGATGCAAGGGTTCTCTTCTGTGTCTTGTAACCATGAAACAGCAGAAGAACTAACATAACTAACTCCATTTTTGTTTAAGGGGCCTTTACCTATTCCTGCACCTAGGCTAGGATAACTTTAGAGCACTGACATAAAACGCAAAAACAGGAATCATGCCGTTTGCAAAACTAACTCTGGGATTAAAGGGGAAGCATGTAAACAGCTAACTGTTTTTGTTAAAGATTTATAGGAATGAGGAGGTTTGGCTATTGTCACATGACAGACTGTTAGCCAAGGACAAAGAAGTTCTGCAAACCTCCCCTGGACCCTTGCTGGTGTCCAGATGTCTGCGGTTGTCAGCCCCTTCCTTTCCCCCGACCTAAACATAAAAGACAAGGCAAAGCCCGCATAATTTTAAGACGGTTCTTTAGGACATTAGTCCACCATCTTCTTGGTTTGCTGGCTCTCCGAAATAAAGTCCCTTTCCTTGCTCCAACTCCTTGTCTCTCAACGTATTGGCTATGACGCAGCAAGCAGAATGAATTTGGACTCAGTTACAGGCTGTCAATGGTCTGCTCTGTAGCAGTCTCAGAGCCTCCCCGACCCACTACCTGGAGATAGCCAGATAGCCAGATGCCCTGCTCCTGGCCACCTTTAAAGCCCCTGCATATGACACAGGTTAACTAAAGTCAAGATTGGGGCTGCTGCATTCCAGGTTCCCTAGACTCACAAGCTGGTCCTTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAAGTCAGAAGTTTGAGACCAGCCTGGCCAACATAATTAAAATGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGACGCTTGCCTGTATCCCAGCTACTCAGGAAGCTGAGACACGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTCAGATAGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAAGCAGATCCTCATGGCTATAGAGTTGGCATTTTAGCCCCAGCTTCTGTAGCTCTGAAAGCCTAAAGAAGGTATTCTCTCCATCTGTTAAACACAGTATAGTGGCTCTCAGCCCTTGGGGCATGTTATCATGGGAGGGAAGTCAAATAAGAGGAGAGAAAAGAACTCAAGGGGGAAACTGCATTTTTAGGCTTTGCTCTCTTACCTTGCCCTTTCTACTCAGAACCAATAACTTCTGCATCAAAACATGTTACAGCCTGCATCAAGGGCTTTACCCCAACCTGCAGCCCAGCCTTCCCTGGGTGAGCTTGCTATGCGCAGCCACATTTACCATGTGGGGCTCCCTATTCTGATGGCCTGTTCGGTGCCGGGTTTACTCACTGCCCTGTTCTGATGTCAGTGCCTGTACATACCTCCAAAGGCAGGACTTGCCTGATAAATATTTTTCCTCCTCTGAACTGGATTTTATAGGCATTAAAGACAAGTCGGGTGGCTAGAGGGCTCCTTGAGACATACCTAGCAGGGAACTGCAGGTGGATTCTGTTGAGAGGCAAAGCACCTGAGTGGTTGGGACACAGGCAGCTGGCATGGGAGGGACTTTTTTTGAGACAGGGTCTCACTGTGTCGCCCAGGGCAAGGATGCCCAAAGACACCAGGTTGGAGAGGCACCTGCCAACTACTTGCTTTCCCTGGAGCCTGCATGTGCCTGTGGGGTGGGGAGGCGTAGGGGTCTACGGCTGCCTGAGATGGGTGTGCACAGTGTGTGAAGTACCTACCTCCTTGCCTTGCTGGACTGTCAGCCAGTCGCAGGGCCGGCCACAAGACCCATGTCTCCATCTGGTCATACTCCATAGCTACCAAGTTAACCTGCTCTAAACTTTGGAGAACTGGATCTGTCCAATAAACGCTTATTTGGCCAAGCCTGATGGCTCGTGCCTGTACTCCCAGCACTTTGGGAGGCTGAGGTGGGAGGGTTGCTTGAGCCCAGGGGTTTGAGACCAGCTTGGGCAACAACAACAAAAATGCCAGGTGTGGTGGGGTGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGCCAGGAGGATCACTTGAGCCCGGGAGGTTGAGGCTGCAGTGGGGGGTCATAATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCCGAAAAAAAAAAAAAAAAAAAGAACGGAAAAAGAAATGCTTACATTGTCAGGGATCCTGTAGACAATCATTAACTCTATGAGATGCTTGGTTCTATTTTTTTGGGAGACTTTGTCCAAGTGTTTTGGCTTAAGAAATCCATAGGCCTCTCTTGGTGACACATCTCTAGTACTTTTTGTCATAAACAAACAGGCCATCTGCCGCCAAATACATCCACTCCCCATGCCACTGACATCCTATGGGTCAGCCAGGCTTGCTTTGACTGAGGCCGAGGCATCTGGAACTTTCTCTGCCTGCAGGGGCTAGCAGCAGAGGCTTCACCGCATCACCACCCCTTCCTCCACTCCTGACATTCTTTCCCTTCAGGGATCCAAAATGGTTGGCCGAGCTCCCAGTGGGAAAACGTGTGCTAGAGTTGGGGAGTGAGATGAGTGGTGCTGTCCATGGAATCAGGCCACAGCAGGAACTGCCCCACTGGCCATTTGAGACACACACAGGTGGTAAATGCTCTGCTGGTGGGCTGTGCTTCCCTCATTCAGAGAGCTCTGTTACAGCCCACTGTGTCCTTTAGAAGCTTGAAAGGAACCCAACTCTTTGCTGCACTGTCCTTTTTCTTCCTCAAATTCAGACCCTCCTTCCACCGGCACCCCCCTACTCCACCCTCAGCTCTTCCTTGCCTGGTTTATCAAGCAGAGCTGAGGCCCCACGTTTCCAACTCTGATTGTCACTTGCATCTTCACAAAGGATAAACCACGGAGCAACTGGAAAACCATCAGCCAAGCGTTCGGATGAGTCTGGTTATTGGTCCACCCCCGACCAGATTCCCTTACACTTAACTCACTTCTTTCTTTGGCAATGACCCTCATGACATGTATAAATGGGTATGACTAAGAAGAGGCTGTGATCTAACATTTATTTGCTGCCATTTTTTACTCTGGGGAGAAGCAGCCCCAACTCATCACTGGGAAAGAACTCCCCCTGCAAACCAGCTAAATTTGATAATTTAAACCCCCTGCCCCTAAAACTTCTCACAGAGCTGGGGAGTTGGTGGCAACTTTCCAAGTCAAGGTCTTGCTTAGAAAGTCCTTCACTACATGGCCAGGTGCAGTGGCTCACGCCTGTAGTCCCAGGTACTTGGGAGCCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGGCTGCAGAGAGCTATGATCATCCCACTGCATTTGTTTAAAAATAAATTTTTAAAATTTGTGTGTTTTATCAGGGGTCTCCTGTACAGTGTATCTGTGTATGTTTGTGTGTGTGTTTGTATACAGCCTTGTTTAATGTTTTGAGCAATAAGATATGCACACACAGGTATTTTGTTGCTAAAGAGATTGGACAAGGTTGTAGCTGTGCTCAGGCTTCAGCTTGGTTTGTTAAATTGAGAGATAAACAATGACAAGAGCTGCCAGCCAACCACACTATTCAAAAAGCAAAGTGTTCACCACTAAAGCTAACCATTCATCTGGTTGCAGGCAAGGCTAAGGCTCTCTCTCCTCTAGTTCCTGGAACAGACTCACAGATTGGCATGAAGCACTGATCAGGGGCTGCACTCAGACTCCCTGGCCAAGCAAACCTACACCAGAAGAGTCAGTGTCACAGATATGATGCGGCCAATCTCTGTCTCCAAAAACCTACCTGAACTTAATGGTAGAATTCAAAGATCTGGGGACTGAGGGCACCCAGCCTTCTAAAACACAATGTATTCATGTGTTTAGTGTAAACTCTCTGCATGGATTCTCAGTGTTAATAATAAAAGGAAGCATTCTTTTACAACTCCTGCTGTGTGCAAAAGAAAGTGCAAAGGATTTGGAGTGGCATTCCGAAGATCACCACACATACCTTGGTTCTGATGGCTGCTGAACTCCGACTTCTTCGCTGAGACATGACTGTGGGAACAGCCTCCAGCTATCTGCTCATCAGAGGTGCTTTCCTCAACCTCCTGCACCACCTCCAAGAGAAACAGCCTAAAAAGAAACCCCAGCTGTTTACTTATATTGGTCTGTAAATCCCTGGAAGTAAACCCCATGCATTTTTATCTACTGTCTGAGGACATACAATAAATCTGAGAAAGTC)$ MAPSRDRLLHFGFKATMFSNSDEAVINKKLPKELLLr|isakehl* 22BR005 ENSG00000107036.12 ENSG00000261645.7 +/+ +/- chr9:5720750 chr11:90680751 CDS/splice-site intron translocation/5'-5' 9 10 0 45 59 high out-of-frame . . . . ENSG00000107036.12 ENSG00000261645.7 ENST00000414202.7 . downstream downstream . ^(ACACTCGGCCCCGTCAGCTTGGGGGTGCCTTCGTCGCGCAGCCTTGCGTCGGCCCGGCCCGGCCAGGCCAGCGGGCAGATGCCCCGAGCTGCCGCCGCCGCCGCCGCCGACTCGGCCGGTGGCGGTGTGGGAGGTGGGCGACCAGCCCGGGGCCGCTGAGTGTGACGGACGCAACTGGGGGCGCCGGGGGCTCCGCACGGACCATGTATTTTCTGAGCGGCTGGCCCAAGAGGCTGCTGTGCCCTCTGGGGAGCCCGGCCGAGGCGCCTTTCCACGTTCAGTCCGACCCGCAGAGGGCTTTCTTCGCCGTGCTGGCCGCGGCCCGCCTCAGCATCTGGTACAGCCGA___CCTAGTGTGTTAATTGTAACCTACAAGGAGCCTGCAAAATCATCTACTCAGTTTGGATCCTACAAGCAAGCTGAATGGAGGCCAGATAGTACCATGATAGCTGTATCA___ACGGCAAATGGATACATCTTGTTTTTTCATATTACATCTACAAGAGGGGACAAGTACCTTTATGAACCAGTGTATCCCAA___AGGAAGTCCACAAATGAAGGGGACACCCCATTTTAAGGAAGAACAGTGTGCTCCAGCATTAAATTTGGAGATGAGGAAAATACTGGATTTACAAGCACCCATCATGAG___TTTGCAGTCTGTGTTGGAAGATCTCCTGGTTGCTACTTCTGATGGACTTCTTCATCTTATTCACTGGGAAGGAATG)ACAAATGGAAGGAAAGCCATTAATCTTTGCACAGTACCCTTTTCAGTAGACCTGCAGTCATCTAGAG___TAGGTTCATTCCTGGGCTTCACAGACGTACACATCAGAGACATGGAATACTGTGCCACACTTGATGGGTTTGCTGTTGTATTTAATGATGGTAAAGTTGGATTTATTACACCAGTGTCAAGTAGATTTACTGCAGAG|GAAATTGCCACAGCCACTCCAAACTTCAGCAGCCATCAACATGAAGGCAAGATTCAAAAAAGATCATTAGCACTTTTTAGCACCAAAGTATTTTTAAG___GGAGTAGGTTTTGATGTGACAAGAGACCTACAGGAATACGCCAAAAACGGTAGAGAAAAG...___AACATTCCATGCTCATGGATAGGAAGAATCAATATCATGAAAATGGCCATAATGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTC MYFLSGWPKRLLCPLGSPAEAPFHVQSDPQRAFFAVLAAARLSIWYSRPSVLIVTYKEPAKSSTQFGSYKQAEWRPDSTMIAVSTANGYILFFHITSTRGDKYLYEPVYPKGSPQMKGTPHFKEEQCAPALNLEMRKILDLQAPIMSLQSVLEDLLVATSDGLLHLIHWEGMTNGRKAINLCTVPFSVDLQSSRVGSFLGFTDVHIRDMEYCATLDGFAVVFNDGKVGFITPVSSRFTAE|eiatatpnfsshqhegkiqkrslalfstkvflre* 22BR005 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 2 14 0 18 86 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(1) GCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCT(TGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 22BR005 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 10 3 0 121 40 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream . ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCTCGATGGAAGGCTCTTGATGAA)ATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAG___ACAAAAGGACGTGGAATGTACTTTCTGCTACAGCCATTACAGTCAACTAGATTTGAGTGCTGCCGCTG MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 22BR005 ENSG00000087095.13 ENSG00000265614.1(24105),ENSG00000181374.8(147) +/+ ./+ chr17:28043331 chr17:34356333 CDS/splice-site intergenic deletion 6 6 0 62 43 high stop-codon . Protein_kinase_domain(100%)| . . ENSG00000087095.13 . ENST00000407008.8 . downstream upstream duplicates(1),mismatches(1) ^(CTTTTGGCAACCCACACCCTTCCACACACGCTCACCCCAAAATTAAACACCAAGATCCTCTAACTTGTTTGGATTGACTGATGAAGACATAAAGCTCTATGTTTTTTGAGGTGGAGTGAGTGGTTTTTCTTCATTTTTAAATGGCCAAATGACAGCTTGACCCAGTTTGCTTTCCAATCAAAGGGCATTTATTTTGAATGTCTCTTTGTGGCGCAAGAGCCAACGCAAAAATGATGGCGGCTTACAATGGCGGTACATCTGCAGCAGCAGCAGGTCACCACCACCACCATCACCACCACCTTCCACACCTCCCTCCTCCTCACCTGCACCACCACCACCACCCTCAACACCATCTTCATCCGGGGTCGGCTGCCGCTGTACACCCTGTACAGCAGCACACCTCTTCGGCAGCTGCGGCAGCCGCAGCAGCGGCTGCAGCTGCAGCCATGTTAAACCCTGGGCAACAACAGCCATATTTC)CCATCACCGGCACCGGGGCAGGCTCCTGGACCAGCTGCAGCAGCCCCAGCTCAGGTACAGGCTGCCGCAGCTGCTACAGTTAAGGCGCACCATCATCAGCACTCGCATCATCCACAGCAGCAGCTGGATATTGAGCCGGATAGACCTATTGGATATGGAGCCTTTGGTGTTGTCTG|AAAAGTCTTTGGTGCCCAGCTCCAGCTCAGCAGATTCAGGATCCCCCTTCATCATGACTTGGTCAACGCCCTGCTCAGGCCAAGGTCCTCTGAGAGTTCCAAGCTTCTCCACTCCCTATAAAAGGCCGGCGGAACAGCCAGAGGAG . 22BR005 ENSG00000258894.1(54528),ENSG00000258969.2(339328) ENSG00000165379.13 ./- +/+ chr14:43651211 chr14:41886606 intergenic 5'UTR/splice-site inversion 8 4 0 201 22 high . . |Immunoglobulin_I-set_domain(100%),Leucine_rich_repeats_(6_copies)(100%) . . . ENSG00000165379.13 . ENST00000298119.8 upstream upstream duplicates(2) AATTGCTATAAAGTTCAGCTGGAGCCTTCCTTCTCCCTGTGGCCTTTTCCCAGTACCTCTGGCCACCCTCCCGAAGGACCTTTGTAAGGCCAGGCAAAAATGGCTTGCTAGGGGACCCAGTGATCTCCCAGGGCTTTTTCCAACTGCTTCCTCTTCCCCTATATTTTGCTTGGCTCTCTAAATCGACTCAGCTCCAG|GCTCTTAAACCTGATCTACAATGGAAAAAATTCTTTTTTATCTGTTTCTCATTGGCATAGCAGTGAAAGCTCAGATCTGTCCAAAGCGTTGTGTCTGTCAGATTTTGTCTCCTAATCTTGCAACCCTTTGTGCCAAGAAAGGGCTTTTATTTGTTCCACCAAACATTGACAGAAGAACTGTGGAACTGCGGTTGGCAGACAATTTTGTTACAAATATTAAAAGGAAAGATTTTGC(CAATATGACCAGCTTGGTGGACCTGACTCTATCCAGGAATACAATAAGTTTTATTACACCTCATGCTTTCGCTGACCTACGAAATTTGAGGGCTTTGCATTTGAATAGCAACAGATTGACTAAAATTACAAATGATATGTTCAGTGGTCTTTCCAATCTTCATCATTTGATACTGAACAACAATCAGCTGACTTTAATTTCCTCTACAGCGTTTGATGATGTCTTCGCCCTTGAGGAGCTGGATCTGTCCTATAATAATCTAGAAACCATTCCTTGGGATGCTGTTGAGAAGATGGTTAGCTTGCATACCCTTAGTTTGGATCACAATATGATTGATAACATTCCTAAGGGGACCTTCTCCCATTTGCACAAGATGACTCGGTTAGATGTGACATCAAATAAATTGCAGAAGCTACCACCTGACCCTCTCTTTCAGCGAGCTCAGGTACTAGCAACCTCAGGAATCATAAGCCCATCTACTTTTGCATTAAGTTTTGGTGGAAACCCCTTGCATTGCAATTGTGAATTGTTGTGGTTGAGGCGTCTGTCCAGAGAAGATGACTTAGAGACCTGTGCTTCTCCTCCACTTTTAACTGGCCGCTACTTTTGGTCAATTCCTGAAGAAGAGTTTTTGTGTGAGCCTCCTCTCATTACTCGTCATACACATGAGATGAGAGTCCTGGAGGGACAAAGGGCAACACTGAGGTGCAAAGCCAGGGGAGACCCTGAGCCTGCAATTCACTGGATTTCTCCTGAAGGGAAGCTTATTTCAAATGCAACAAGATCTCTGGTGTATGATAACGGAACACTTGACATTCTTATCACAACTGTAAAGGATACAGGTGCTTTTACCTGCATTGCTTCCAATCCTGCTGGGGAAGCAACACAAATAGTGGATCTTCATATAATTAAGCTCCCTCACTTACTAAATAGTACAAACCATATCCATGAGCCTGATCCTGGTTCTTCAGATATCTCAACTTCTACCAAGTCAGGTTCTAATACAAGCAGTAGTAATGGTGATACTAAATTGAGTCAAGATAAAATTGTGGTGGCAGAAGCTACATCATCAACGGCACTACTTAAATTTAATTTTCAAAGAAATATCCCTGGAATACGTATGTTTCAAATCCAGTACAATGGTACTTATGATGACACCCTTGTTTACAG___AATGATACCTCCTACGAGCAAAACTTTTCTGGTCAATAATCTGGCTGCTGGAACTATGTATGACTTGTGTGTCTTGGCCATATATGATGATGGCATCACTTCCCTCACTGCCACAAGAGTCGTGGGTTGCATCCAGTTTACTACGGAACAGGATTATGTGCGTTGCCATTTCATGCAGTCTCAGTTTTTGGGAGGCACCATGATTATTATTATTGGTGGAATCATTGTAGCATCTGTGCTGGTATTCATCATTATTCTGATGATCCGGTATAAGGTTTGCAACAATAATGGGCAACACAAGGTCACCAAGGTTAGCAATGTTTATTCCCAAACTAACGGGGCTCAAATACAAGGCTGTAGTGTAACGCTGCCCCAGTCCGTGTCCAAACAAGCTGTGGGACACGAAGAGAATGCCCAGTGTTGTAAAGCTACCAGTGACAATGTGATTCAATCTTCAGAAACTTGTTCGAGTCAGGACTCCTCTACCACTACCTCTGCTTTGCCTCCTTCCTGGACTTCAAGCACTTCTGTGTCCCAAAAGCAGAAAAGAAAGACTGGCACAAAGCCAAGTACAGAACCACAGAATGAAGCCGTCACAAATGTTGAATCCCAAAACACTAACAGGAACAACTCAACTGCCTTGCAGTTAGCTAGCCGTCCTCCCGATTCTGTCACAGAGGGGCCCACGTCTAAAAGAGCACATATAAAGCCAA___ATGCTTTGCTGACTAATGTTGACCAGATTGTCCAGGAAACACAG___AGGCTGGAGTTAATCTGAAGAGCACCACTTCTCCTCTCTCTCCTGAAAAAATTTGCCACTGATATTTTTACTGGATAAAATTCAAAAATGTTTCAATTCACAAAGGCTAATTGTTGAACTGGTGTCGTAGAAGAAATTGTCTACAGGAGCCAAGGTGAAAGTCTCTGATGACGGCGGAACTGGCTCCATTAGACCATGGTTCATCCTCTTTTAAAACCAAATTTTTTTTTCTTCTGGCCTACAAGTATTTTTTTTTTAAAAAAGAAAAAAAGCCTACATTGGCATCAAGTTCTGTATCAATCCATCTTACATTGCCATCCATGATTTAACAGACTGTAGAATCTTGAATAATCTATATCACTTTAACAAATAAATGTTTTACTATGACAGAA)$ . 22BR005 ENSG00000087095.13 ENSG00000181374.8 +/+ +/+ chr17:28043331 chr17:34356333 CDS/splice-site intron deletion 0 9 1 62 43 high stop-codon . Protein_kinase_domain(100%)| . . ENSG00000087095.13 ENSG00000181374.8 ENST00000407008.8 ENST00000225844.7 downstream upstream duplicates(1) ^(CTTTTGGCAACCCACACCCTTCCACACACGCTCACCCCAAAATTAAACACCAAGATCCTCTAACTTGTTTGGATTGACTGATGAAGACATAAAGCTCTATGTTTTTTGAGGTGGAGTGAGTGGTTTTTCTTCATTTTTAAATGGCCAAATGACAGCTTGACCCAGTTTGCTTTCCAATCAAAGGGCATTTATTTTGAATGTCTCTTTGTGGCGCAAGAGCCAACGCAAAAATGATGGCGGCTTACAATGGCGGTACATCTGCAGCAGCAGCAGGTCACCACCACCACCATCACCACCACCTTCCACACCTCCCTCCTCCTCACCTGCACCACCACCACCACCCTCAACACCATCTTCATCCGGGGTCGGCTGCCGCTGTACACCCTGTACAGCAGCACACCTCTTCGGCAGCTGCGGCAGCCGCAGCAGCGGCTGCAGCTGCAGCCATGTTAAACCCTGGGCAACAACAGCCATATTTCCCATCACCGGCACCGGGGCAGGCTCCTGGACCAGCTGC)AGCAGCCCCAGCTCAGGTACAGGCTGCCGCAGCTGCTACAGTTAAGGCGCACCATCATCAGCACTCGCATCATCCACAGCAGCAGCTGGATATTGAGCCGGATAGACCTATTGGATATGGAGCCTTTGGTGTTGTCTG|AAAAGTCTTTGGTGCCCAGCTCCAGCTCAGCAGATTCAGGATCCCCCTTCATCATGACTTGGTCAACGCCCTGCTCAGGCCAAGGTCCTCTGAGAGTTCCAAGCTTCTCCACTCCCTATAAAAGGCCGGCGGAACAGCCAGAGGAGCAGAGAGGCAAAGAAACATTGTGAAATCTCCAACTCTTAACCTTCAACATGAAAGTCTCTGCAGTGCTTCTGTGCCTGCTGCTCATGACAGCAGCTTTCAACCCCCAGGGACTTGCTCAGCCAG___ATGCACTCAACGTCCCATCTACTTGCTGCTTCACATTTAGCAGTAAGAAGATCTCCTTGCAGAGGCTGAAGAGCTATGTGATCACCACCAGCAGGTGTCCCCAGAAGGCTGTCAT___CTTCAGAACCAAACTGGGCAAGGAGATCTGTGCTGACCCAAAGGAGAAGTGGGTCCAGAATTATATGAAACACCTGGGCCGGAAAGCTCAC(ACCCTGAAGACTTGAACTCTGCTACCCCTACTGAAATCAAGCTGGAGTACGTGAAATGACTTTTCCATTCTCCTCTGGCCTCCTCTTCTATGCTTTGGAATACTTCTACCATAATTTTCAAATAGGATGCATTCGGTTTTGTGATTCAAAATGTACTATGTGTTAAGTAATATTGGCTATTATTTGACTTGTTGCTGGTTTGGAGTTTATTTGAGTATTGCTGATCTTTTCTAAAGCAAGGCCTTGAGCAAGTAGGTTGCTGTCTCTAAGCCCCCTTCCCTTCCACTATGAGCTGCTGGCAGTGGGTTTGTATTCGGTTCCCAGGGGTTGAGAGCATGCCTGTGGGAGTCATGGACATGAAGGGATGCTGCAATGTAGGAAGGAGAGCTCTTTGTGAATGTGAGGTGTTGCTAAATATGTTATTGTGGAAAGATGAATGCAATAGTAGGACTGCTGACATTTTGCAGAAAATACATTTTATTTAAAATCTCCTA)$ . 22BR005 ENSG00000033627.16 ENSG00000171475.14 +/+ +/- chr17:42499042 chr17:40279567 CDS/splice-site 3'UTR inversion/3'-3' 5 4 1 120 122 high out-of-frame . V-type_ATPase_116kDa_subunit_family__(100%)| . . ENSG00000033627.16 ENSG00000171475.14 ENST00000343619.8 . downstream downstream . ^(GCTGCTCCTGGAGCCGCGGAGGGTGCGGGTTTGGCTGCGGTGGTTTCTGTGGCGGTTGCTGTGGCGGAGTTTGGAG___GTTGGAGAGAAATCCAGGTACTCACTAGACTGGTACCTTCTGCCACCATGGGGGAGCTTTTCCGGAGTGAAGAAATGACACTGGCCCAGCTTTTTCTACAGTCAGAGGCTGCTTATTGTTGTGTCAGTGAATTAGGAGAACTTGGAAAGGTTCAGTTTCGTGAC___TTAAATCCAGATGTGAATGTTTTCCAACGGAAATTTGTGAATGAAGTTAGAAGATGTGAAGAAATGGATCGAAAGCTTC___GATTTGTTGAGAAAGAGATAAGAAAAGCTAACATTCCGATTATGGACACCGGTGAAAACCCAGAGGTTCCCTTCCCCCGGGACATGATTGACTTAGAG___GCCAATTTTGAGAAGATTGAAAATGAACTGAAGGAAATCAACACAAACCAGGAAGCTCTGAAGAGAAACTTCCTGGAACTGACCGAATTAAAATTTATACTTCGCAAAACTCAGCAATTTTTTGATGAG___ATGGCGGATCCAGACTTGTTGGAAGAGTCCTCATCCCTCTTGGAGCCAAGTGAGATGGGAAGAGGCACTCCTTTAAGACTTGG___CTTCGTGGCTGGTGTCATTAACCGGGAGCGCATCCCTACTTTTGAGCGCATGCTTTGGCGGGTATGCCGGGGAAATGTGTTCCTGCGACAGGCTGAAATCGAGAACCCCCTGGAGGATCCTGTGACT___GGCGACTACGTGCACAAGTCTGTGTTTATCATTTTCTTCCAAGGCGATCAGCTGAAAAACAGAGTCAAGAAAATCTGTGAAGG___GTTCCGAGCCTCACTCTATCCCTGTCCTGAGACACCACAGGAGAGGAAGGAAATGGCTTCTGGAGTGAATACCAGGATTGATGATCTCCAAATG___GTTCTGAATCAAACGGAGGATCACCGCCAGAGGGTTCTGCAGGCAGCTGCTAAGAACATCCGTGTCTGGTTCATCAAAGTGCGGAAGATGAAGGCCATCTATCACACCCTGAACCTGTGCAACATAGATGTGACTCAGAAATGCTTGATTGCAGAGGTCTGGTGCCCTGTCACCGACCTTGACTCCATCCAGTTTGCACTCAGAAGGGGCACG___GAACACAGTGGTTCCACTGTACCTTCCATTTTGAACAGGATGCAGACAAACCAGACTCCCCCAACCTATAACAAAACCAACAAGTTTACCTATGGCTTTCAGAACATAGTAGATGCTTATGGAATTGGAACTTACCGAGAGATAAATCCAG___CTCCGTATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGCATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAGAAGAATGAGAATGAG___ATGTTTAGCACTGTGTTCAGTGGTCGATACATTATTTTATTGATGGGTGTGTTCTCCATGTACACTGGCCTCATCTACAATGATTGCTTTTCCAAGTCTCTTAATATCTTTGGGTCATC)CTGGAGTGTACGGCCGATGTTTACTTATAATTGGAC___TGAAGAGACGCTTCGGGGGAACCCTGTTCTACAGCTGAACCCAGCCCTCCCTGGAGTGTTTGGTGGACCATACCCTTTTGGCATTGATCCA___ATTTGGAACATTGCTACCAATAAACTGACGTTCTTGAACTCCTTTAAGATGAAGATGTCTGTTATCCTTGGTATCATCCATATGCTGTTTGGAGTCAGCCTGAGTCTGTTCAACCATAT|GACCCGGAAGACAAAGAAACAACCTATGGCTGGCTGCCAAGGAAGATCTACTGAACTGAGGCAAATCTCAACAAAGTCTTTGTGCTTCCTGGCATAGAAGAGTATCTGAATATCTTCATAAGCCTCTGCTCACTTCTTCACCCTTCTGTACTCTGCTGTGTTAAACCGTGCAGTCCTGGGAAGGCAAGGGTGGTAGAG MGELFRSEEMTLAQLFLQSEAAYCCVSELGELGKVQFRDLNPDVNVFQRKFVNEVRRCEEMDRKLRFVEKEIRKANIPIMDTGENPEVPFPRDMIDLEANFEKIENELKEINTNQEALKRNFLELTELKFILRKTQQFFDEMADPDLLEESSSLLEPSEMGRGTPLRLGFVAGVINRERIPTFERMLWRVCRGNVFLRQAEIENPLEDPVTGDYVHKSVFIIFFQGDQLKNRVKKICEGFRASLYPCPETPQERKEMASGVNTRIDDLQMVLNQTEDHRQRVLQAAAKNIRVWFIKVRKMKAIYHTLNLCNIDVTQKCLIAEVWCPVTDLDSIQFALRRGTEHSGSTVPSILNRMQTNQTPPTYNKTNKFTYGFQNIVDAYGIGTYREINPAPYTIITFPFLFAVMFGDFGHGILMTLFAVWMVLRESRILSQKNENEMFSTVFSGRYIILLMGVFSMYTGLIYNDCFSKSLNIFGSSWSVRPMFTYNWTEETLRGNPVLQLNPALPGVFGGPYPFGIDPIWNIATNKLTFLNSFKMKMSVILGIIHMLFGVSLSLFNHm|trktkkqpmagcqgrstelrqistkslcfla* 22BR005 ENSG00000166352.16 ENSG00000285751.1 +/+ -/+ chr11:36610239 chr11:39145111 CDS/splice-site intron deletion/5'-5' 7 3 0 78 25 high out-of-frame . . . . ENSG00000166352.16 ENSG00000285751.1 ENST00000334307.9 . downstream upstream . ^(TCTCTCTGGGATGTGTAGCTT)TGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAG___ATACTGTGGCCTCATGAATAGGAATGTCTGCCCATATGTCAGGATTGGAAATAATGGATGAAGATCAATTAATCAAAGACGTCTTGGATAAATTCCTTAATTGTCATGAGCAAACATATGATGAAGAATTTCTGAACACTTTTACTCATCTTTCACAAG|GTGACTGGTGGAGCTGAAAACAGAGCTGTTAAACATGATTTGACCATGAAGACTGGAAACATTACATCAATTTCTCTGAAGAG___AGTATCTGTTTTGCATTCCTTACTTGGTGGAGGTAGAATGAGAGCCAATGATTCTTCA MSAHMSGLEIMDEDQLIKDVLDKFLNCHEQTYDEEFLNTFTHLSQ|gdwws* 22BR005 ENSG00000006695.12 ENSG00000263563.6 +/+ +/+ chr17:14102242 chr17:22204087 CDS/splice-site exon/splice-site deletion 8 0 1 59 20 high out-of-frame . UbiA_prenyltransferase_family(100%)| . . ENSG00000006695.12 ENSG00000263563.6 ENST00000261643.8 ENST00000648259.1 downstream upstream duplicates(1),mismatches(2) ^(ACTACTCCCACAGGGGGGCGGGGAAGGAAGATGGCGGCGCCCAGCGTCCCGTGAGGAGAGAGGACACAGGGATCCCGGGGAGCGGCCCCAGACTCGTAAATTATGGCCGCATCTCCGCACACTCTCTCCTCACGCCTCCTGACAG___GTTGCGTAGGAGGCTCTGTCTGGTATCTTGAAAGAAGAACTATACAGGACTCCCCTCACAAGTTCTTACATCTTCTCAGGAATGTCAATAAGCAGTGGATTACATTTCAGCACTTTAGCTTCCTCAAACGCATG___TATGTCACACAGCTGAACAGAAGCCACAACCAGCAAGTAAGACCCAAGCCAGAACCAGTAGCATCTCCTTTCCTTGAAAAAACATCTTCAGGTCAAGCCAAAG)CAGAAATATATGAGATGAGACCTCTCTCACCGCCCAGCCTATCTTTGTCCAGAAAGCCAAATGAAAAGGAATTGATAGAACTAGAGCCAGACTCAGTAATTGAAGACTCAATAGATGTAGGGAAAGAGACAAAAGAGGAAAAGCGGTGGAAAGAGATGAAGCTGCAAGTGTATGATTTGCCAGGAATTTTGGCTCGACTATCCAAAATCAAACTCACAG___CTCTaGTTGTAAGTACCACTGCAGCTGGATTTGCATTGGCTCCGGGCCCTTTTGACTGGCCCTGTTTCCTGCTTACTTCTGTTGGGACAGGCCTTGCATCCTGTGCTGCCAACTCCATCAATCAG|GTCAAAATGCGGATCTTCGTGAAAACCCTTACCGGCAAGATCATCACCCTTGAAGTGGAGCCCAGTGCCACTATCGAAAATGTCAAAGCCAAAATCCAAGATAAAGAAGGCAATCCCTGTGACCAGCAGAGGCTCATCTTTGCAGGCAAGCAGCGGGAAGATGGCCGCAGTCTTTCTGACTACAACATCCAGAAAGAGTCGACCCTGCATCTGGTCCTGCGTCG(GAGAGGTGGTATGCAGATCTTCGTGAAGACCCTGACCGGCAAGACCATCACCCTGGAAGTGGAGCCCAGTGACACCATCGAAAATGTGAAGGCCAAGATCCAAGATAAAGAAGGCATCCCCCCCGACCAGCAGAGGCTCATCTTTGCAGGCAAGCAGCTGGAAGATGGCCGCAGTCTTTCTGACTACAACATCCAGAAAGAGTCGACCCTGCATCTGGTCCTGCGTCTGAGAGGTGGTATGCAGATCTTCGTGAAGACCCTGACCGGCAAGACCATCACCCTGGAAGTGGAGCCCAGTGACACCATCGAAAATGTGAAGGCCAAGATCCAAGATAAAGAAGGCATCCCCCCGATCAGCAGAGGCTCATCTTTGCAGGCAAGCAGCTGGAAGATGGCGGTACTCTTTCTGACTACAACATCCAGAAGGAGTCGACCCTGCACCTGGTCCTGCGTCTGAGAGGTGGTATGAAGATCTTCGTGAAGACCCTGACTGGAAAGACCATCACCCTGGAGGTGGAGCCCAGTGACACCATCGAAAATGTGAAAGCCAAGATCCAGGATGAAGAAGGCATCCCCCCCGATCAGCAGAGGCTCATCTTTGCAGGCAAGAAGTTGGAAGATGGCCGCACTCTTTCTGACTACAGCATCCAGAAAGAGTCGACCCTGCACCTGGTCCTGCGCCTGAGGGGTGGCTGTTAATTCTTCAGTCTTGCATTAGCAGTGCCCACTGATGGCATTACTCTGCACTATAGCCATTTGCCCCAACTTAGGTTTAGAAATTACAAGTTTCAGTAATAGCTGAACCTGTTCAAAATGTTAATAAAGGTTTCGTTGAATGGTA)$ MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVNKQWITFQHFSFLKRMYVTQLNRSHNQQVRPKPEPVASPFLEKTSSGQAKAEIYEMRPLSPPSLSLSRKPNEKELIELEPDSVIEDSIDVGKETKEEKRWKEMKLQVYDLPGILARLSKIKLTALVVSTTAAGFALAPGPFDWPCFLLTSVGTGLASCAANSINQ|vkmrifvktltgkiitlevepsatienvkakiqdkegnpcdqqrlifagkqredgrslsdyniqkestlhlvlrrrggmqifvktltgktitlevepsdtienvkakiqdkegippdqqrlifagkqledgrslsdyniqkestlhlvlrlrggmqifvktltgktitlevepsdtienvkakiqdkegippisrgsslqasswkmavlfltttsrrsrpctwscv* 22BR005 ENSG00000148153.14 ENSG00000159921.17 -/- -/- chr9:112716461 chr9:36234132 CDS/splice-site CDS/splice-site deletion 2 5 1 48 28 high in-frame . |ROK_family(100%),UDP-N-acetylglucosamine_2-epimerase(100%) . . ENSG00000148153.14 ENSG00000159921.17 ENST00000374242.9 ENST00000396594.7 upstream downstream duplicates(1) ^(AGGAGGCGGAAGCGCAGC)GGGGGCGGGAAGGTTGTAGTGCCGCGAGTTGAGCTCCTCTTGCCTAAGTGGTCGCGCCCCCTTTAAGAGCAGCGATTGTAAGGAGAGGCGGTCCCGGTGTCCTCGGGTCCCAG___GTGATTGTGAAGTGCTGACCAATTGCCACTGGACATACTTGAAACAAAATAGGAAAATGGCAGCAAACTCTTCAGGACAAG|GGAGCAAAGAGATGGTTCGAGTGATGCGGAAGAAGGGCATTGAGCATCATCCCAACTTTCGTGCAGTTAAACACGTCCCATTTGACCAGTTTATACAGTTGGTTGCCCATGCTGGCTGTATGATTGGGAACAGCAGCTGTGGGGTTCGAGAAGTTGGAG(CTTTTGGAACACCTGTGATCAACCTGGGAACACGTCAGATTGGAAGAGAAACAG___GGGAGAATGTTCTTCATGTCCGGGATGCTGACACCCAAGACAAAATATTGCAAGCACTGCACCTTCAGTTTGGTAAACAGTACCCTTG___TTCAAAGATATATGGGGATGGAAATGCTGTTCCAAGGATTTTGAAGTTTCTCAAATCTATCGATCTTCAAGAGCCACTGCAAAAGAAATTCTGCTTTCCTCCTGTGAAGGAGAATATCTCTCAAGATATTGACCATATTCTTGAAACTCTAAGTGCCTTGGCCGTTGATCTTGGCGGGACGAACCTCCGAGTTGCAATAGTCAGCATGAAG___GGTGAAATAGTTAAGAAGTATACTCAGTTCAATCCTAAAACCTATGAAGAGAGGATTAATTTAATCCTACAGATGTGTGTGGAAGCTGCAGCAGAAGCTGTAAAACTGAACTGCAGAATTTTGGGAGTAG___GCATTTCCACAGGTGGCCGTGTAAATCCTCGGGAAGGAATTGTGCTGCATTCAACCAAACTGATCCAAGAGTGGAACTCTGTGGACCTTAGGACCCCCCTTTCTGACACTTTGCATCTCCCTGTGTGGGTAGACAATGATGGCAACTGTGCTGCCCTGGCGGAAAGGAAATTTGGCCAAGGAAAGGGACTGGAAAACTTTGTTACACTTATCACAGGCACAG___GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGGCCTTGCAGAGGGAGGCAAAAAAGCTCCATGATG___AGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG___CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGGATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTTAGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTATTTTTGTAGATGCTATTCTTTCTGATGTCTTCTTACTAGGGGTCATTTTAGCTCAAACCCTGTAAGTTACAGTCACAATTTTCTGTGCCAAAGCAGCTACAATAATAGAGAGGAAGCCTTCTTAGAACTCTGCTTACTAATGTATTAATACCACTGAGACCTTCAGGCCTTGCCTGGGATATCACTTCATCCTGAAGTTTGCATTAATAATCCTTCCAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCGCCCTGGCTAACATGGTGAAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCAGGGAGGCGGAGCTGGCAGTGAACTGAGACCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAATAATAATAATAAATAATAATAATAATAATAATAATAATAATAATCCTTCCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCACCCTGGGTGACAGAGCGAGACTCCGTCTACACACACACACACACACACACACACATCCTTCCTCCTCTAACCCCAAACTAAGATCACAGAAGGTGATCCAGTCAGAGAACAGAGGGAAATCTTACCAGGAAGGGCTTAAGTACACTTTTTTTTAAAACAGCTTTATTGTTTTTAAAGCCTACAATTTGATAAGCCTTGACATATGTATACCTGTGAAAGCATCACCACAATCAAGACACTGGACATATCTATCACTCCCCCATCTCAGATATCCCCCCTAATCCTGGATACCATTTGTTGAAAGATGTTATTACTCTAGCTGAACTTACAAGAGACTTTAGACCAGGGATCTAAATTACAGTGGCCTTAGTGACCTTGTCCTTATCTTCTTAGGACAGCTGAGAAGCCACTGGGACTTAGAGCCTTTAAAAGGAGATTAACTGTCCCAAAAGGATCTTTGCTACTGACCAGCAGACACTTCTTCCTTCAGTAGCCTTTCATACTGTGTTGAGTAACACCCTAGGGTGTCCATTAAAGTTTTGAGTTTTACCTAGAGCCCAGAGCCATGAATCAGGATTCTGTCTACATGATTCGTGTTTTCATTGGTGTCAAAATACAAAAGCCAAAGTTCTGGCTATGAATTGTTAACTTGGAAGAAATACTAACTGCCACCACTTATTAAGTGCCTACTGTGTGCCAGGCTCTGAACTAGGTGCTTCATATACATTATCCTAAATTATCTCAACATATGAGGTAGGTGTTTTAATTTTTATTTTATAGAACTTGGTGTGTTTGACTGTTAAGCTATGGGGCTAGAGAGAGGGTTTGATCCCAGGTCCCTCTGTGCTTTTGCTGCTGAGCCACACAACCTCTCATTTCAAAAACACTTTCAAAATGCTAACATATTCTAATTCACTCTAGGCCACCAAAAACTTTAATACTAATATCTGATTTGTAAATGACTTAATGTATCCTTGACCCTATCAGCTGAATTTAATGAAATATTCCTCTCTGCTGTGAAATTTTACCAGTATAGTATTTGGTCTAGTGACAGGTGTTCTATTTTTTTGAGACGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATGCAACCTCTGCCCCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCACATGCACCACGCCCGGCTGATTTTTTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCATCACACCTGGCCCTAGTGACAGGTTTTTATGGGTACTTTTAGATGATCTAAGAAATCATGTGCATATATCTTTCAGATTTCTATTTTGGGAAAATGAAGGTTTCTACAACATATTGTTTCAGTGTTCAAATAAACTGAAGGACTCAACATTACATTTGAACTATATCCTTCCTAGTGGGTTAGTGTGAAAAAGAGTTTGGCTGATTCCTAAAACTCTGCCAGCCCTGCAGTAATCTCCAGGGCCTGGTTATTGTTCAGACATTCCATGGTGATTCCTGGGAAGGAAGCTTGGCTGCTCAGTTTCTGAGTCTGGGGTGAGATAATGTTCTGGGAAGGGACATCTGTTCTTTGGTGTAATCTCTCATGGTGAAATCTGCTCTGTACATCAGACAATTGCATTGCTACCAAGTTTCATACCAAATATTTGAAAGGATGGTATTGAATCTAAAACCAAATATTAGTTTTTATTAAACTCATGGGAAGGCTAATATATTCCAACGTAAATTATTACATATGGTTAAGTAATTGCATGTTAATTTATTTTAATGTAAATATTTTTGTTACTGTTCTGAGCCAAATTCTAAAGAAAAAATAAATACATTTCCTTGTTGAAA)$ MAANSSGQ|gSKEMVRVMRKKGIEHHPNFRAVKHVPFDQFIQLVAHAGCMIGNSSCGVREVGAFGTPVINLGTRQIGRETGENVLHVRDADTQDKILQALHLQFGKQYPCSKIYGDGNAVPRILKFLKSIDLQEPLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLRVAIVSMKGEIVKKYTQFNPKTYEERINLILQMCVEAAAEAVKLNCRILGVGISTGGRVNPREGIVLHSTKLIQEWNSVDLRTPLSDTLHLPVWVDNDGNCAALAERKFGQGKGLENFVTLITGTGIGGGIIHQHELIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRRIY* 22BR005 ENSG00000091436.17 ENSG00000230552.6 +/+ -/- chr2:173191177 chr2:176761698 CDS/splice-site exon/splice-site inversion 6 2 0 94 13 high out-of-frame . . . . ENSG00000091436.17 ENSG00000230552.6 ENST00000375213.8 ENST00000657778.1 downstream downstream . ^(CTCATTGGCGCCGTGCAGAGAGGCGGAATGTTCAACTCCTAACTGCAGCGGAAACGTGGGAGCCGCGCGGGCCGCTGTCGTCCCAACCCCCGCCGCCCTCGTCGCGCGCGGGGCCTCCGCGCCCCCGGCTGCTGCTCACGCCCCGCCCGGGAGCCAG___ATTTTGTGGAAGTATAATACTTTGTCATTATGAGATGTCGTCTCTCGGTGCCTCCTTTGTGCAAATTAAATTTGATGACTTGCAGTTTTTTGAAAACTGCGGTGGAGGAAGTTTTGGGAGTGTTTATCGAGCCAAATGGATATCACAGGACAAGGAGGTGGCTGTAAAGAAGCTCCTCAAAATAGAGAAAGAG___GCAGAAATACTCAGTGTCCTCAGTCACAGAAACATCATCCAGTTTTATGGAGTAATTCTTGAACCTCCCAACTATGGCATTGTCACAG___AATATGCTTCTCTGGGATCACTCTATGATTACATTAACAGTAACAGAAGTGAGGAGATGGATATGGATCACATTATGACCTGGGCCACTGATGTAGCCAAAG___GAATGCATTATTTACATATGGAGGCTCCT)GTCAAGGTGATTCACAGAGACCTCAAGTCAAGAAACG___TTGTTATAGCTGCTGATGGAGTATTGAAG___ATCTGTGACTTTGGTGCCTCTCGGTTCCATAACCATACAACACACATGTCCTTGGTTGGAACTTTCCCATGGATGGCTCCAGAAGTTATCCAGAGTCTCCCTGTGTCAGAAACTTGTGACACATATTCCTATGGTGTG|CTATACATTTCCGAAGACAGAGAAGAGGAAAAAGGAGGTAGAGTCTGGTATGAGGGCACCAGGGAACA(TTTCCTTACTTCACAATTTGGTGAACTGAGTAGAACTGCCTGACATCACACAGAGGGTAAACTTCTGCCTAGGGCCATGGAAAAAGGCAAGAAGGTCCCGTGACCAAGAAATGACCAGCTCCACAGAGGAAATGCAGGGCCACTCTCCGACTGGACCCCACTGTGCACAAG___CCTGCTCAATGTGAAGATGACGAGGATGAAAACCTTTATGATGATCTACTCCTATTTATG___CTGCCTTGCAAGAAATGGAAGGGAAGCACAAGGGGATTGAGTGCCTTGGCTGAAGCCCTTGGTCAGCAAGTGGTGGAGCAAGCATTGAGACAGCAGCTTCTAACCTAAGCATGTGCTCATCTCAGCACTCTGCCCAAAACCTGCTCAGTTCAGCTTCCTAGAGGGGCTCCCTACTCACACACTTTGGAAAGGAGAACAGTTCTTCACGTAGAATGTGAACAATCAAGCTGGACTCTCACAGAACTTCCTAGAGGCCCTACTCTGGCCCAAGATTGAACCACAGTGAAATCATCAGTTCTGCATTGGATGATATCACTGATCAATTTTCTTTCCATTCCGTCATTTGGTGCACCCTTCCTCTACCTCCAGAGTCATCTGGACCCGTGACTACCACCAACAGATCTTAGCACCCTGAAATCTCAGTTCTGGCCTGCTGACTTTTTATATCCATATATTTTCTAACTTTATCCATCCTCAAAGACTTCCCTCCTTGGGACCCTGTTTTCTAATGATAAATAAGTAATGAGTCTTATAATCCAAGACTCACTGACAATGGAATTGCAGAAATTCCCTATCCACAGGCGTGACTATTAGAGTGGGAATTTCAGACACACCGACAGGGTAAGTAGAGAAATCTTATAGGAGGACTGAGGATCTTATACCCCAGCAACCACTCTGCCATTCTGAATGGGATGTGGCTGGCCCTAGACCAGCTACAAATGCATGTCATGTCCTTATGTCAGATTCATCAAATGTCAAATCAGGAAGTCATTTGGATAACACATTTCTGGTTATAAATAACAAAAACTGACTCAAGCTAGCCTAAGGGAAAAAATTAATAA)$ MSSLGASFVQIKFDDLQFFENCGGGSFGSVYRAKWISQDKEVAVKKLLKIEKEAEILSVLSHRNIIQFYGVILEPPNYGIVTEYASLGSLYDYINSNRSEEMDMDHIMTWATDVAKGMHYLHMEAPVKVIHRDLKSRNVVIAADGVLKICDFGASRFHNHTTHMSLVGTFPWMAPEVIQSLPVSETCDTYSYGV|lyisedreeekggrvwyegtrehfltsqfgelsrta* 22BR005 ENSG00000132749.11 ENSG00000280093.1(189759),ENSG00000255332.8(221271) -/- ./+ chr11:68747208 chr11:91573048 CDS/splice-site intergenic inversion 3 3 0 133 5 high out-of-frame . . . . ENSG00000132749.11 . ENST00000255087.10 . upstream upstream . ^(ACCCTTCCCCCTTCTCCAACCGCCAACGGCCGCCTGCGCCTGAGGCCCGGCCCACGCCCCATCCCGCTCGCTCCACGCTGCGGCAGCCCCGGCGGCCCCAG___GTGCGCGGCCCCCGCCATCCCGCCCCGCCGCCCTGCGCCATGGAGGAGGGCCCTCTGCCGGGCGGGCTGCCCAGCCCCGAGGATGCGATGGTGACGGAGCTCTTAAGCCCCGAGGGTCCGTTCGCTTCGGAGAACATCGGCCTGAAGGCCCCCGTGAAGTACGAGGAGGACGAGTTCCACGTCTTCAAAGAAGCGTACCTGGGCCCGGCGGACCCCAAGGAACCCGTCCTGCACGCGTTCAACCCCGCGCTGGGCGCCGACTGCAAGGGCCAGGTCAAGGCGAAGCTCGCGGGGGGCGACAGCGACGGCGGGGAGCTCCTCGGGGAGTACCCCGGGATCCCAGAGCTCAGCGCGCTGGAGGACGTCGCGCTCCTGCAGGCCCCGCAGCCGCCCGCCTGCAACGTGCACTTCCTGTCCTCGCTGCTACCCGCGCACCGCAGCCCGG)CGGTGTTGCCCCTGGGCGCCTGGGTCCTGGAAGGAGCCTCCCACCCGGGCGTCCGCATGATCCCA___GTTGAAATCAAGGAAGCAGGTGGTACTACTACAAGTAATAATCCGGAAGAAGCAACTTTGCAGAATCTTCTTGCTCAGGAATCCTGTTGCAAGTTCCCATCGTCCCAGGAACTAGAGGATGCCTCCTGCTGTTCTCTTAAGAAAGATTCCAACCCAATG|AGGCAGGTATACTTGTAAAAGGGCACAGGAGAGAGGAATGAAAAAGGCCCAGCTTTCTGGCCATGTGATTCAAAATGGGAGACCCAGAGAACCAGAAGTTTCTGGAGACCACAAAGAGGGAGGATTTGAGGAAAGCAGTACTATGCAA___GCCAGTGTTTGGAAGAAAAGACACTGAGGAGAGAAGTATGCCACAAGGATGAGCAGAAGCAGGCCCCGCATCATCTCAGCTCCCA MEEGPLPGGLPSPEDAMVTELLSPEGPFASENIGLKAPVKYEEDEFHVFKEAYLGPADPKEPVLHAFNPALGADCKGQVKAKLAGGDSDGGELLGEYPGIPELSALEDVALLQAPQPPACNVHFLSSLLPAHRSPAVLPLGAWVLEGASHPGVRMIPVEIKEAGGTTTSNNPEEATLQNLLAQESCCKFPSSQELEDASCCSLKKDSNPM|rqvyl* 22BR005 ENSG00000148356.13 ENSG00000148090.12(24763),ENSG00000165030.4(22364) +/+ ./+ chr9:127457393 chr9:91386681 CDS/splice-site intergenic duplication 4 1 0 38 5 high out-of-frame . . . . ENSG00000148356.13 . ENST00000300417.10 . downstream upstream duplicates(2) ^(AGAGACGCCCTTGTCGCCATGTTTGTTGTGGGCAGGCGCCTGAGGCTGACGGCTGGCAAGCAGGGCACCGCGGTGCGCTGAAGCTAGAGATTCCGAAAGGGGGTTCGGGTAGTTCGCTCCGGAGAAGTCTGAGAAGGGTGGCTCCGGTGATCCCAGCCCTAGCTGTTTCCCATATTCCTTTATC___CACCTGCCTTTGAAGGAGACCAGACTCCGGCTCCGCCCGGCCCGTGCCGGGTGGTCTGCGGCCCCGAGTCCGTGACCAAGCCCTCCGAGTGATCGGCCTGCCCTCGGGTGCACCCGCGGGTCCCAACGTGGGGGATCCCTCCATCCGCAAAGCCAG___GGT)CCTAAAGATCGCTCTGGGAAAAGGGAAGGATGCCGCTCTTCTTCCGGAAGCGGAAACCCAGTGAGGAGGCTCGGAAACGCCTGGAGTACCAGATGTGTTTG___GCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAG___ATTCCATTTGGAGCTTTTGCAACATGCAAAGTTCTGCAGAAGAAG___GTGCTGATCGTCCACACGAATCACCTCACTTCCCTGCTTCCCAAATCCTGCAGCCTCCTGAGTCTGGCAACCATtAAG|GTGAAAGGCTGACTTCATCAGCATGACATGGATCACATTTTTGAAGAGCTG___GTTGGAGAGACGCCTTAGTCTCATTTCCCGGGTATATCGGGGGAAGAACAAAGTGCCTGACCTGACCGCTGCTTTTCATGGCCAGCTGGGAGAGTTTCGACAAGTCAACCTCTCAGAGTCTCAGCATTCCTCTTTATAAAAATGGGCACAACAATGAAAAACCGAAAATCAAAAAAGGCCAAACAATG MPLFFRKRKPSEEARKRLEYQMCLAKEAGADDILDISKCELSEIPFGAFATCKVLQKKVLIVHTNHLTSLLPKSCSLLSLATIK|vkg* 22BR005 ENSG00000165525.18 ENSG00000258747.2(106360),ENSG00000258998.2(89330) -/- ./- chr14:49825867 chr14:44673827 CDS/splice-site intergenic deletion 3 0 1 212 2 high out-of-frame . Fibronectin-binding_protein_A_N-terminus_(FbpA)(100%)| . . ENSG00000165525.18 . ENST00000298310.10 . upstream downstream . ^(AGAGGAACTTGCGGTAGTGACCCTCGGGCCTCGCCATGAAGAGCCGCTTTAGCACCATTGACCTCCGCGCCGTACTCGCGGAGCTGAATGCTAG___CTTGCTAGGAATGAGAGTAAACAATGTTTATGATGTGGATAATAAGACATACCTTATTCGTCTTCAAAA___ACCGGACTTTAAAGCTACACTTTTACTTGAATCTGGCATACGAATTCATACAACAGAATTTGAGTGGCCTAAGAATATGATGCCGTCTAGTTTTGCCATGAAG___TGCCGAAAACATTTGAAGAGTCGGAGATTAGTCAGTGCAAAACAGCTTGGTGTGGATAGAATTGTAGATTTTCAATTTGGAAGTGATGAAGCTGCTTACCATTTAATCATTGAGCTCTATGATAGG___GGGAACATTGTTCTTACAGATTATGAGTACGTAATTTTAAATATTCTAAGGTTTCGAACTGATGAGGCAGATGATGTTAAATTTGCTGTTCGTGAACGCTATCCACTTGATCATGCTAGAGCTGCTGAACCTTTGCTTACTTTGGAAAG___GTTGACTGAAATAGTAGCCAGCGCACCTAAGGGTGAACTACTGAAGAGGGTGCTTAACCCATTACTTC___CCTATGGACCAGCTCTCATTGAACACTGTCTTTTAGAAAATGGATTCTCGGGTAATGTCAAAGTGGATGAAAAACTTGAAACTAAAG___ATATTGAAAAAGTACTTGTTTCTCTGCAGAAAGCAGAAGACTATATGAAAACAACATCCAACTTCAGTGGGAAG___GGATATATCATTCAGAAAAGAGAAATAAAACCAAGCTTGGAAGCAGATAAACCAGTTGAAGACATACTGAC___GTATGAGGAATTTCATCCTTTCTTGTTTTCTCAACATTCACAATGTCCATATATAGAATTTGAATCATTTGACAAG___GCGGTGGATGAATTTTATTCCAAGATAGAAGGCCAGAAAATTGACTTAAAAGCTTTACAACAG___GAAAAGCAAGCATTGAAGAAATTAGATAATGTTCGAAAGGATCACGAAAACAGATTGGAAGCTCTTCAGCAGGCTCAG___GAAATAGACAAACTGAAAGGAGAGCTCATAGAAATGAACCTACAAATAGTTGACAGAGCCATTCAGGTAGTTCGAAGTGCTTTAGCTAACCAGATAGATTGGACAGAAATTGGGTTAATTGTGAAAGAAGCCCAGGCTCAAGGAGACCCTGTTGCAAGTGCAATCAAAGAATTAAAACTACAAACAAACCATGTTACAATGCTGCTAAG___AAATCCATACTTGTTATCAGAGGAGGAAGATGATGATGTTGATGGTGACGTCAATGTTGAGAAAAATGAAACTGAACCACCAAAAGGAAAAAAGAAAAAACAAAAGAATAAACAGCTGCAGAAGCCTCAGAAAAATAAGCCCTTACTTGTAGATGTTGATCTCAGCTTGTCAGCATATG)CCAATGCCAAAAA___GTATTATGATCACAAGAGATATGCTGCTAAGAAAACACAAAAGACTGTTGAAGCTGCTGAGAAG___GCATTCAAGTCAGCAGAAAAGAAAACAAAGCAAACATTAAAAGAAGTTCAGACTGTTACCTCTATTCAAAAAGCAAGAAAAGTATATTG|CACTTCCTCTTCCTGCCATCAAGTGAAGAAGAACATGTTTGCTTCCTGAGGCCTTCCAAGCCCcGCAGGACTGTGAGTCAGTTAAACCTCTTTCCTTTATAGCTTACGTAGTCTCAGGAAGTTCTTGTAGCAGCATCAGAATGGACTAGTACAGTAAATTGGTACTGGGAGTGGGGCACTACCGTAAAGATACCCCAAACTTGGAAGTGACCGG MKSRFSTIDLRAVLAELNASLLGMRVNNVYDVDNKTYLIRLQKPDFKATLLLESGIRIHTTEFEWPKNMMPSSFAMKCRKHLKSRRLVSAKQLGVDRIVDFQFGSDEAAYHLIIELYDRGNIVLTDYEYVILNILRFRTDEADDVKFAVRERYPLDHARAAEPLLTLERLTEIVASAPKGELLKRVLNPLLPYGPALIEHCLLENGFSGNVKVDEKLETKDIEKVLVSLQKAEDYMKTTSNFSGKGYIIQKREIKPSLEADKPVEDILTYEEFHPFLFSQHSQCPYIEFESFDKAVDEFYSKIEGQKIDLKALQQEKQALKKLDNVRKDHENRLEALQQAQEIDKLKGELIEMNLQIVDRAIQVVRSALANQIDWTEIGLIVKEAQAQGDPVASAIKELKLQTNHVTMLLRNPYLLSEEEDDDVDGDVNVEKNETEPPKGKKKKQKNKQLQKPQKNKPLLVDVDLSLSAYANAKKYYDHKRYAAKKTQKTVEAAEKAFKSAEKKTKQTLKEVQTVTSIQKARKVYc|tssschqvkknmfas* 22BR005 ENSG00000189195.14 ENSG00000187672.13 +/+ -/+ chr1:92147786 chr3:55563355 CDS/splice-site intron translocation/5'-5' 1 1 0 13 1 high out-of-frame . BTB/POZ_domain(100%)| . . ENSG00000189195.14 ENSG00000187672.13 ENST00000636805.1 . downstream upstream . ^(GCCGGCAGAAGTAAACAGAGCGAGTACGCCTGCGCACGCTCTTCCTGGGTCAAGAGCCGGCTCGGTTCTGGGATTCTGAGGCTCCCCACCGCGGTCCGGCTTCTCTGGGAGACTGTCTACAAACCGACGAGAGGCGTCAACCTTTTACCCTAGGGGGCGGATTTGGGTAGGAGCCGAGCGTTCGGTCGGAAACGCCCCCTTCTTCCTCCTGGGCGGGGCAAGTGAGGCCAAGTACTGGGCCTCCAGGGCGTCGTACCTCTGTGAGACATGGCTCGCTGTGGGGAAGGCAGTGCGGCCCCCATGGTACTTCTGGGGTCCGCTGGAGTTTGCAGTAAGGGGTTGCAAAGGAAGGGGCCGTGTGAGCGGCGCCGGCTGAAGGCGACGGTGTCGGAGCAGCTCAGCCAGGATTTGCTCAG___GCTTCTAAGGGAAGAATTCCATACAGATGTTACCTTCTCTGTGGGTTGTACTTTGTTCAAAGCACACAAAGCAGTCCTTTTAGCAAGAGTTCCTGACTTCTATTTTCATACTATTGGACAGACATCAAATAGTTTAACAAATCAGGAGCCTATTGCTGTGGAGAATGTTGAAGCTTTAGAATTTAGAACGTTTTTACA___GATTATATATTCATCAAACAGAAACATAAAAAACTATGAAGAGGAAATTCTTAGGAAAAAGATAATGGAGATTGGGATATCACAAAAGCAACTTGACATCAGTTTTCCAAAGTGTGAAAACTCATCTGATTGTTCTCTTCAGAAGCATGAAATTCCAGAGGATATCAGTGACAGAGATGATGATTTCATTTCCAATG___ATAATTATGACTTGGAGCCTGCATCTGAATTAGGAGAAGATTTATTGAAGCTTTATGTGAAACCTTGTTGCCCAGATATTGATATTTTTGTTGATGGAAAACGTTTTAAAGCTCACAG___GGCCATTTTGAGTGCCAGATCTAGTTATTTTGCTGCAATGCTGAGTGGCTGTTGGGCTGAAAGCTCCCAAGAGTACGTTACTCTTCAAGG___TATAAGCCATGTAGAACTGAATGTTATGATGCATTTTATATATGGAGGAACTCTGGACATTCCAGACAAAACTAATGTTGG___TCAGATACTCAATATGGCTGATATGTATGGACTAGAAGGATTAAAAGAAGTAGCAATCTATATTTTAAGAAGAGATTACTGTAATTTCTTTCAGAAG___CCTGTTCCCAGAACATTGACGTCTATACTAGAATGCCTGATTATTGCTCATTCAGTTGGAGTGGAAAGTCTTTTTGCTGACTGCATGAA___GTGGATTGTAAAGCATTTTGCAAGGTTTTGGTCTGAGAGAAGCTTTGCAAATATACCTCCTGAG)ATTCAGAAAAGTTGTCTTAATATGTTGATTCAGTCCTTA|GACCATATCTGCAATAATCAATTGCTCTCACGTATTTGGTACCTGGACACTCTTCACTTTGTCACAAGCATGAAGAAACTAACTTACTTCTTCCCAGCCCCAGGATGGGCTCCCAACTGGGACTTGGCCAGTGTGATTACTCAACCTCTGGTCACAGTGATGGGTTCAAGGTTGGGTAAGTGCTCCATTTGAGTCTTCCATGAGATCTGATAAGAGAACACTGAGAGAGAGAGACAGA MARCGEGSAAPMVLLGSAGVCSKGLQRKGPCERRRLKATVSEQLSQDLLRLLREEFHTDVTFSVGCTLFKAHKAVLLARVPDFYFHTIGQTSNSLTNQEPIAVENVEALEFRTFLQIIYSSNRNIKNYEEEILRKKIMEIGISQKQLDISFPKCENSSDCSLQKHEIPEDISDRDDDFISNDNYDLEPASELGEDLLKLYVKPCCPDIDIFVDGKRFKAHRAILSARSSYFAAMLSGCWAESSQEYVTLQGISHVELNVMMHFIYGGTLDIPDKTNVGQILNMADMYGLEGLKEVAIYILRRDYCNFFQKPVPRTLTSILECLIIAHSVGVESLFADCMKWIVKHFARFWSERSFANIPPEIQKSCLNMLIQSL|dhicnnqllsriwyldtlhfvtsmkkltyffpapgwapnwdlasvitqplvtvmgsrlgkcsi* 22BR005 ENSG00000079156.17 ENSG00000236283.5 +/+ +/+ chr2:178236637 chr2:164848842 intron exon/splice-site duplication 1 1 0 1 24 high . . . . . ENSG00000079156.17 ENSG00000236283.5 . ENST00000638199.1 downstream upstream . CATGATATCATCCTTtTGCACTTGCAGCCCTTTTGGGAGAGTCTGATGTCAGACAGCGTTGGTTTCTGTGTGGGCCTGCTACCCCTGGTGACAGGGAACTTGGTCACTCAGCCAGTCTCTACTAACTTCAGATGGCCATACCACCAGCATGTGCTGTGGGAGATACCAGGGGATCCAGTGACAGTGTGATTGGCTTTTGTAAACAGAGACATATTCTCAA|GCCATCTTCAAAGGTACTGCCTACCTGAACCTGCCTTGTCCCAAAGGACACACTTCAATCTGGGGAGAGTTTAAAGTTG(TAGACATATCCATTTTCATTTAAGGAATATGAAGATCAGGGAGGCAAAATATAGAGATATAGAGAGGAAAAACTGAGAGATGATCAGAAATTCAGACGCATTCGGAATGAGCACCCTTGACCATACCAAGAACAAAGACTCTATAAAAATGTGAAGTCTTATTATTGTTCATCCATGTTCTACGTGGGATCCACCCAAGACATTGAAAACTGTACAGAACAGGGTGAAATTGAATCAGATCATTCTGTACTCCTAACAAGGTCCACCCCATGAGAGACTTGCAGCAGAATTAATGACACTGTATATTTTCCTCTACTAACAACAACAAGAACAACAACAACAACAATCTAGGAAAATCAAAGGCAGCCCGACATGGAAAAAAACACAAAATGAATATTTGGATTACAAATAGTGTGATGGGAAGAACACACTGCCAAAAGTCCACCTAGTATGTTGAAATTACTGTTTCTAGCACATATAAG___TCAACTTACCTATAAAAGGATACAAAAACTGAAGAACAGAGAGGAGCAGATACCCTGGAAAGCCGAAAGTTTTATTGACCAAAGACTG___AGTCTCGGAATGTTTTGATTGTGGAGTTTATAGAGTTCAGGCTGAAGTTTTATAAAAATAACTTGCAGCAGCATGGAGGACTGATGAGAAAGTAGACAGATGCTGGAAGCAGGAAAACTGAACAGCAGGTCACTGGCCAAGGAGAATCAAAGAGCTAGATGCTGAGAATAATGCAGCCATAACGTGAAATCTTTTTGAG___ACCACTCACTCTGGGAGAAAGCAACTGGCTATGTCATGAGGAAATTGAAACCACCTATGGAGAAAGGCCCACATG___AATTCTGTAAGTCTGCTACGGTGACATTTCTGGTTAGGAGTCAGAGTGGATGGGACACTGAGCAATAAG___GCAAAGTTGGACATCCCAAAGATGGCATAGATAAACATGACCAGGAAGAGCAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTGGCAAGACGGATCACTCGGAACAAG___ACCCACCTAGGATGCATCACCTTTATCTCTGGAAGCCTGTGTTAACTCATTCCAGCAGAGATGGCTACTTCCTCTTCAGTGCTTCTTACAATACCAACTTTATTGCATTACAATGATTTGTTTTTTAAGCCATCTGCCTCTTTTAGCCTGTGACCTTGGTTTAAGATTAGGAGAGTACCTGATAATGTTTATTTCCTGTCTTCTTCACCTCTTTCCCAAATCTGGTATTCCTAACATGGTTTCTAACTAGTTAGCTTTGTGAATAAACCCAGGTTTCAGAGTTTTTATTCAAATATGCTAGTGTTGAACTTTACATCTATATGCATTATTATTCTCAGACCTAATTTCCATGTTAATCAGCTAGAAGGTCCTGGGGCAACTGTTTCTCTGTAACTATACCTCTTGGTAATTAAGCTGTTCTTACCTACAATGGAGAGAATCACCACCACAAAGTCAAAGATGTTCCAGCCTATAGTGAAGTAGTAGTGTCTGAGGGAGACGAGCTTCAGCACAAATTCTCCAGTGAACAGAACAATGAACACTAGGTTGATCCGGGACAAAACTAGGGTCATGTATTTGCCCTGGTCATCCGTTTCCACCATCATGGTGACCATGTTGAGGCAGATGAGGATCATGATGCTGATATCAAAGACTTGTCTGGTTACAAAATCAAAGACCATTCCTTGGAATTTGTTCTAGAAAGTGAGAGAAGAGAAATAAGGTTACTATATATATTTCATAAAGAATAATGCAGTAAAATTGTAGATAAAGCCCTTCCACATACGGGATGGATGTGCACCCTCCTCATATTACCCCAAACAATTTTGTGTGCTTTTTTTCTCTTCATGTTAAAAAAAATGGAAAAAAAATTTATATAGCTAAACAAAGCATATTTGGTTTATATAGGTCCTATGGAAAGACAAAGCTGGATGAGACATAAATTAAGGCTGGGCGTGGCAACTCATGCCTGTAATTCCAGCACTTTAGGAGGCTGAGACTGGAGGCTCTCTTGAGGCCAAGAGTTCCAGACCAGCCTGGGCAACATAGTGAGACCTCATTTCTATTAAAAAAAAATTAGCCTGGTATGGTGGCACAGGCTTGCAGTCCCAGCTACGAGGGAGGCTGAGGTGAATCACTTGACCCCAGGTGTTTGAACTTGCAGTGAGCTATGGTCTTGCCACTGTACTCCAGCCTGAGAGACAGAGTGAGACCCTGTCTCTTAAAAAACAAAACAAAAACAAACACATAAATTTGTGACAATTGGCTGATAATATATGTAGTCTTTGCTTGATTTGAATAAGTATGATAATTTTTATAAAAAATAGTGACTACTAATAACAAAGATTTACAAAGCAGGTTAATATCAACAGATATTTAGATAGAGAATACACCAATTCATTTATCAATATTTTAGAAATTTTGGTTTATACCTTATTTCCCTCCCCTGAAATACATCAGTCATATTTCTATTGAATTCTACCTCTCTAGCTCTGTGAATCTATGTATGGGCTTGTTAATTTATCTGTATTTCTTTCCATCTGTCCTTCTTTACCTATGCCCTGTGCTTTAACAAAAATGCATGACTTTAAACACTTTTTTTCTTTGTCTTATTAACAATCATCTCAGGAACAACATGCTTTCAAAGATTCTTATATTAATATGGCTAGTAAATACAGTTTTATTAAAGAAATATATTATTAATCATTTAGAGTAAAAACTTAAAACTTCATGGCTTACCAAAAATCAAAGGTCATGAAGTGACCATGTTTTAATTTTTAAAGAACTCTAGTAAAGTCAGTTCAATCCTTTCCCCTCTTACCCTGCTCCCTCACATTCCAGCTCCAACTACTCTTATAAATATGGTAAAGTCAAGTCACTTAGAGAATTTATGGGGCCTTGTCAAGTCCCAGTTCTGGCAATTACAAGATTTGTGACTTGGGGCATGATTCGTATGTTCTTTGGGCCTCAGTTTCCTTACTCCTTACCAATCTCAGAAAATAGCTGAGTTAGAGTCCAGCTCTGTGAACATAATCTGTCATTATTACATCATTCCATCATCATGAGGCTCTACAGAGTATGCATTCTGAATATGCCTTATTCTGTTTTGGTGTATTTGGTGAAACAAACAATTTTGATGACACCTTTTCCCTTTCTAAACAGGTTTGGAATATTTTCTAGTCTTAAGAATGGAGGGAGCAGAGAGTATAGAGGGAGGCCTTGGAGAGTGGGATGGGAAGGCTAGAGGAGGAGGAACCAGGTGTGCTGTTGGTAGCAGGAAAGTGAACCTT)$ . 22BR005 ENSG00000143036.17 ENSG00000057468.7 +/+ +/+ chr1:94845464 chr1:75889251 CDS/splice-site CDS/splice-site duplication 1 1 0 32 5 high in-frame . |MutS_domain_V(100%) . . ENSG00000143036.17 ENSG00000057468.7 ENST00000271227.11 ENST00000263187.4 downstream upstream . ^(AGCCCCGGCCCCGGCCCCGGCTCGCGGGCGCTGCGTCTCCGCGTACAGGAGGCGGCGGCGGCTCCCAGTCACCGGCCCCCGCCGGCGAGCGCACGATGCACTGCCTGGGCGCCGAGTACCTG___GTTTCTGCAGAAGGAGCCCCTAGGCAAAGGGAGTGGCGACCCCAGATTTATAGGAAATGCACAGATACGGCATGGTTATTCCTGTTCTTTCTCTTTTGGACTGGTTTG___GTGTTTATCATGGGCTACTCGGTGGTGGCTGGAGCCGCGGGAAGACTCCTCTTTGGCTATGACAGCTTTGGCAACATGTGTGGCAAGAAGAACTCCCCCGTGGAAGGGGCCCCTCTTTCAGGGCAGGACATGACCCTAAAAAA___ACACGTGTTCTTTATGAATTCCTGCAACCTGGAAGTCAAAGGTACGCAGCTCAACCGCATGGCCCTCTGTGTATCCAACTGCCCTGAAGAGCAGCTTGACTCCCTGGAAGAGGTCCAGTTCTTTGCAAACACCAGTG___GGTCCTTCCTGTGTGTTTATAGTTTGAATTCCTTCAACTATACCCACAGTCCAAAAGCAGACTCACTGTGTCCCAGGCTACCAGTTCCTCCAAG___CAAGTCATTTCCCTTATTTAACCGATGTGTCCCTCAAACACCTGAGTGCTACTCCCTATTTGCATCTGTTTTGATAAATGATGTTGACACCCTCCACCGAATTCTAAGTGGAATCATGTCGGGAAGAGATACAATCCTTGGCCTGTGTATCCTCGCATTAG___CCTTGTCTTTGGCCATGATGTTTACCTTCAGATTCATCACCACCCTTCTGGTTCACATTTTCATTTCATTGGTTATTTTGGGATTGTTGT___TTGTCTGCGGTGTTTTATGGTGGCTGTATTATGACTATACCAACGACCTCAGCATAGAATTGGACACAGAAAGGGAAAATATGAAGTGCGTGCTGGGGTTTGCTAT)CGTATCCACAGGCATCACG___GCAGTGCTGCTCGTCTTGATTTTTGTTCTCAGAAAGAGAATAAAATTGACAGTTGAGCTTTTCCAAATCACAAATAAAGCCATCAGCAGTGCTCCCTTCCTGCTGTTCCAGCCACTGTGGACATTTGCCATCCTCATTTTCTTCTGGGTCCTCTGGGTGGCTGTGCTGCTGAGCCTGGGAACTGCAG|GATCATATGTTCCAGCAGAATATTCTTCCTTTAGAAT(TGCTAAACAGATTTTTACAAGAATTAGTACTGATGATGATATCGAAACAAATTCATCAACATTTATGAAAGAAATGAAAGAG___ATAGCATATATTCTACATAATGCTAATGACAAATCGCTCATATTAATTGATGAACTTGGCAGAGGTACTAATACGGAAGAAGGTATTGGCATTTGTTATGCTGTTTGTGAATATCTACTGAGCTTAAAG___GCATTTACACTGTTTGCTACACATTTCCTGGAACTATGCCATATTGATGCCCTGTATCCTAATGTAGAAAACATGCATTTTGAAGTTCAACATGTAAAGAATACCTCAAGAAATAAAGAAGCAATTTTGTATACCTACAAACTTTCTAAGGGACTCACAGAAGAGAAAAATTATG___GATTAAAAGCTGCAGAGGTGTCATCACTTCCACCATCAATTGTCTTGGATGCCAAGGAAATCACAACTCAAATTACGAGACAAATTTTG___CAAAACCAAAGGAGTACCCCTGAGATGGAAAGACAGAGAGCTGTGTACCATCTAGCCACTAGGCTTGTTCAAACTGCTCGAAACTCTCAATTGGATCCAGACAGTTTACGAATATATTTAAGTAACCTCAAGAAGAAGTACAAAGAAGATTTTCCCAGGACTGAACAAGTTCCAGAAAAGACTGAAGAATAATCACAATTCTAATGTAATAATATATCTTAATTCAAGGAACCTAGAATTTATTTTTCTCCTTAGAGATAAGGAAAATAACATTTGCCAAATTTCATATTTTAATTGAAAATTACATTATATTAACATCACAATTGTCATCTATATATTCTATATGAAAAATATTTATTATAACTTAACAAATGAGAACTACTTAAAGGAATGGTTTTTATGTTAGGAGAAAATACAATACACCACTTTTTTCTCACAAAAATTCACATTATTAAGACCTAAGTTCATTTATACTTACAAGTTATAGTTTAAAATATTATTGTAAATACCCTAGTTTAATAAACACCTTTCTTTTTAGGTCTGGAAA)$ MHCLGAEYLVSAEGAPRQREWRPQIYRKCTDTAWLFLFFLFWTGLVFIMGYSVVAGAAGRLLFGYDSFGNMCGKKNSPVEGAPLSGQDMTLKKHVFFMNSCNLEVKGTQLNRMALCVSNCPEEQLDSLEEVQFFANTSGSFLCVYSLNSFNYTHSPKADSLCPRLPVPPSKSFPLFNRCVPQTPECYSLFASVLINDVDTLHRILSGIMSGRDTILGLCILALALSLAMMFTFRFITTLLVHIFISLVILGLLFVCGVLWWLYYDYTNDLSIELDTERENMKCVLGFAIVSTGITAVLLVLIFVLRKRIKLTVELFQITNKAISSAPFLLFQPLWTFAILIFFWVLWVAVLLSLGTA|gSYVPAEYSSFRIAKQIFTRISTDDDIETNSSTFMKEMKEIAYILHNANDKSLILIDELGRGTNTEEGIGICYAVCEYLLSLKAFTLFATHFLELCHIDALYPNVENMHFEVQHVKNTSRNKEAILYTYKLSKGLTEEKNYGLKAAEVSSLPPSIVLDAKEITTQITRQILQNQRSTPEMERQRAVYHLATRLVQTARNSQLDPDSLRIYLSNLKKKYKEDFPRTEQVPEKTEE* 22BR005 ENSG00000108344.15 ENSG00000125386.15 +/+ +/+ chr17:39981383 chr4:2634424 intron intron translocation 35 18 3 165 35 medium out-of-frame . . . . ENSG00000108344.15 ENSG00000125386.15 ENST00000264639.9 . downstream upstream duplicates(6) ^(AGAAGGCCCAGCGCCGGGAAGGGGTTTGCAGCTGCTCCGTCATCGTGCGGCCCGACGCTATCTCGCGCTCGTGTGCAGGCCCGGCTCGGCTCCTGGTCCCCGGTGCGAGGGTTAACGCGAGGCCCCGGCCTCGGTCCCCGGACTAGGCCGTGACCCCGGGTGCCATGAAGCAGGAGGGCTCGGCGCGGCGCCGCGGCGCGGACAAGGCGAAACCGCCGCCCGGCGGAGGAGAACAAGAACCCCCACCGCCGCCGGCCCCCCAGGATGTGGAGATGAAAGAGGAGGCAGCGACGGGTGGCGGGTCGACGGGGGAGGCAGACGGCAAGACGGCGGCGGCAGCGGCTG)AGCACTCCCAGCGAGAGCTGGACACAGTCACCTTGGAGGGTACGGCAGCCCAGGCCGGGAACGTGCCGCGATCGCGGGTGACAGCGACCCCTGTGATTTGGCTTCTTGCTGGGAAGCCACAGCAGCCTCCACCACCCTCAGTTCTTTGGGATCACCCCCAGATACCTGCTCCCACTGCCCCGACACTCCCGACTCCAGGCCCAATGACTGAACCTTCTCTCCAGGCTGGGA|g|AAGTCATAAAACACAAGGTTCATGACAGCACAGTTAAAAGCCAGCAGAAGCAGTAGACAGAATCACATAACAAAGATATTTAAATTTTCAAAAAAGAATATAGAGTAACTTTGTTAACTGTGCTTAAAGAAGCTTTGTAAAAGTTTGAAATTGGGAGTTAAGGATTAATACTCTAAAGAATGATAATTCAGATTTGAAAAAATATCAAAACTAGAAACAAAAACTTTTTTTAGAGATGATAGCTGAGAAATTCTCAGAATTACTGAAAAATACTAGTGTTCAGCAAGGAAACGT MKQEGSARRRGADKAKPPPGGGEQEPPPPPAPQDVEMKEEAATGGGSTGEADGKTAAAAAEHSQRELDTVTLEgtaaqagnvprsrvtatpviwllagkpqqppppsvlwdhpqipaptaptlptpgpmtepslqag|r|shktqgs* 22BR005 ENSG00000125826.21 ENSG00000230387.4(80333),ENSG00000277901.1(50206) +/+ ./+ chr20:431228 chr20:23270752 3'UTR intergenic deletion 4 5 2 11 6 medium stop-codon . IBR_domain__a_half_RING-finger_domain(100%),RING-type_zinc-finger(100%)| . . ENSG00000125826.21 . ENST00000356286.10 . downstream upstream mismatches(1) ^(ACTTTCACTTTCTCTTCCGCCGAAGCCGCTCCCCTTGCGAAGAACTGGGGCCTCCCGGGAGGAGAGAGGGCTTTGCCTTGAAACCCGGGACGCCAGGGGCGCTCCCGCAAGTGGGGGTCCTCCGGGACTTGGAACGCCCCGGCTGGGTGGTGTCCGGGCGTCCTTTCCCCGCTTCTTCCCACCTCGGCTGGTCCCGTTTCCTCCTGCGCCCAGTGCGGACCTGTCTCGGCGCCCGCTGCCCTCTCACCGCCCCACGCAGGATCCCGGCCTGGTCACCGGGCAGTGTGATGCTTCCCGACTGCCGCGGGGACAGCGAGGCACACACAGGGCTTGGGCCGCGCCGGAGGCCACACGGCCTGGCTGAGTTGCTCCTGGTCTCCCGCCTCTCCCAGGCGACCCGGAGGTAGCATTTCCCAGGAGGCACGGTCCCCCCCAGGGGGATGGGCACAGCCACGCCAGATGGACGAGAAGACCAAGAAAG___CAGAGGAAATGGCCCTGAGCCTCACCCGAGCAGTGGCGGGCGGGGATGAACAGGTGGCAATGAAGTGTGCCATCTGGCTGGCAGAGCAACGGGTGCCCCTGAGTGTGCAACTGAAGCCTGAGGTCTCCCCAACGCAGGACATCAG___GCTGTGGGTGAGCGTGGAGGATGCTCAGATGCACACCGTCACCATCTGGCTCACAGTGCGCCCTGATATGACAGTGGCGTCTCTCAAGGACATG___GTTTTTCTGGACTATGGCTTCCCACCAGTCTTGCAGCAGTGGGTGATTGGGCAGCGGCTGGCACGAGACCAGGAGACCCTGCACTCCCATGGGGTGCGGCAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAG___ATCTGGGCTTCAAGGACCTCACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAACCCGGACGGGGGCAGCCAGATGCAGTGCCTGAGCCCCCACCG___GTGGGCTGGCAGTGCCCCGGGTGCACCTTCATCAACAAGCCCACGCGGCCTGGCTGTGAGATGTGCTGCCGGGCGCGCCCCGAGGCCTACCAGGTCCCCGCCTCATACCAGCCCGACGAGGAGGAGCGAGCGCGCCTGGCGGGCGAGGAGGAGGCGCTGCGTCAGTACCAGCAG___CGGAAGCAGCAGCAGCAGGAGGGGAACTACCTGCAGCACGTCCAGCTGGACCAGAGGAGCCTGGTGCTGAACACGGAGCCCGCCGAGTGCCCCGTGTGCTACTCGGTGCTGGCGCCCGGCGAGGCCGTGGTGCTGCGTGAGTGTCTGCACACCTTCTGCAG___GGAGTGCCTGCAGGGCACCATCCGCAACAGCCAGGAGGCGGAGGTCTCCTGCCCCTTCATTGACAACACCTACTCGTGCTCGGGCAAGCTGCTGGAGAGGGAGATCAAGGCG___CTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATTGCTGAAAACCGCAGTGCCTTCAGCTACCATTGCAAGACCCCAGATTGCAAGGGATGGTGCTTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTTTCCACGTCAACTGCCTGCTCTGCAAG___GCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTGCGGGCTCAGAACGATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAG___GTGATGCTGCAGCAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTACAGAAGAAGGACGGCTGCGACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGCTGGGGCCCTGGG___GGCCCAGGAGACACCAGCGGGGGCTGCCGCTGCAGGGTAAATGGGATTCCTTGCCACCCAAGCTGTCAGAACTGCCACTGAGCTAAAGATGGTGGGGCCACATGCTGACCCAGCCCCACATCCACATTCTGTTAGAATGTAGCTCAGGGAGCTTCGTGGACGGCCTTGCTTGCTGTAGCGTTGTAGGGGCCCTGCCTGCACTGCGGTTGTCCACGGTCACATCTGCCCCAGTGCCTTTGTCCTTCCCTTGGGGCTTGCCGGCCAGACTTCTCTCCCCTGCGGCTCCCACCTCTGCCTGACCCCAGCCTTAAACATAGCCCCTGGCCAGAGGCCTTGCTGGGTGGAGCCTCTGTGTGACTCCATACTCCTCCCACCACAACACTCATCTGTCAAACACCAAGCACTCTCAGCCTCCCCGCCTTCAGCTGTCAGCTTTCTGGGGCTAACTTCTCTGCCTTTGTGGTTGGAGGCCTGAGGCCTCTTGGAACTCTTGCTAACCTGTTCAGAGCCAGGAAGGAGACTGCACAGTTTTGAAAGCACAGCCCGTCAGGTCCGGCTCTGCGTCTCCCTCTCTGCAGCCTGTGTAAGCTATTATAATTAAAATGGTTTTCCGGGAAGGGATG)AGTGTGATGTCCTTGAGAGGAAATGAATGTCCTGGCCTGGGACTCTACACACAGGCAGGATCCTGAGGTCTCTGGGAACTGCATCAGAAAGTTGACTTGTCAGTCCATCTGTGGTAGAATGAGGCTGTGACTGAGCACTGGGACCTTTCTACCAGATGTGGACCCCATGCCCAGCCTCAGGGGCAAGGATGCTCTTGGGTCACCGTCAGCCAGGACAGGTGGAGTaTGCAGTGTGTCAAGTCTGCAGAGAAGGATG|ACTTATGTCAGAAGTAAAACATTGCTACAGTGACAGCATGGTTGAGTGACATCATGCCTTCATTCCAAAGACCTGAGGTGTTGCTCCTGAGCCCCCGCTGGGGATTGCGGCCCAGGTTCATGCTCTCAGGCTGCACACACGCACTCTGAAAATGTTTGCCATTAGGGCTGCAAGCCCTCAGTGCCACCAGCTTTACCTGACATAGCAACTCCGTGGAGGTACCATGAAGTATTCAGGGTAACCCCCCAAAATGAGACACAACTGCTTAGCTGGACTGACTTATTCCCAAGACTCAGAGGCTGATTCAATAAATA . 22BR005 ENSG00000162873.14 ENSG00000236387.2 -/- -/- chr1:205336210 chr20:4423528 3'UTR intron translocation 5 2 0 28 4 medium stop-codon . Kelch_motif(100%)| . . ENSG00000162873.14 ENSG00000236387.2 ENST00000539253.5 . upstream downstream . ^(TTTGCATAACTGGCAGCGTTGCAAAGGACAGCCCCTTTCTCTCTTCCCTCCATTCTCTCCCATCTGGCAGAGGAGTCCGGCTCCCTAAATCTTCTTTTTGTTG___ATGATCGCCGGGTGTCGATCCTTTTCCCTCCAGTCAG___ATGAGGACACTCAGATTCAAGGACATAAGTGACTGGTGCATAATCACACAGCTAGGAGGTGGCTGCACCAGGATTCAGATGCAGCCTGTCTGATGCTGACCACATGGTCTGTGGGGTGCTGCAGAAAGAAAACTGCATAAAGAAGGTGATCCTGGCCTCGGGGAGTTCCTGGTGTGTGCCTCCAGCCAGCGTGGTACCCTGCAGAGGGCACTCCG___GGCCAGGCGTGGACGCCGCCGGACCGCTGAGACTCGGGGCACGGTGAAGCACTGGCCGGGGTCTGGCTGGGTCCGGCGCTCGGGAGCCAGATGGAGGTGGCGATAGGGGCCGTGGGAGCCGGCGCCAAGTAGCCGGTGGACCCCCGCGCTCGCACCTCTCCCGGCGCCCGGGCGCTCCCCAAGGCTGCCATGGAGGTGCCTAACGTCAAGGACTTCCAGTGGAAGCGCCTGGCGCCACTGCCCAGCCGCCGGGTCTACTGCTCCCTGCTGGAGACCGGGGGCCAGGTCTATGCCATCGGGGGATGTGACGACAACGGCGTCCCCATGGACTGCTTCGAGGTCTACTCCCCGGAGGCCGACCAGTGGACCGCCTTGCCCCGGCTGCCCACAGCCCGGGCGGGGGTGGCCGTCACCGCCCTGGGGAAGCGGATCATGGTGATTGGGGGCGTGGGCACCAATCAGCTGCCCCTGAAGGTCGTGGAGATGTACAACATCGATGAGGGCAAGTGGAAGAAGAGGAGCATGCTGCGTGAGGCCGCCATGGGCATTTCTGTCACGGCCAAAG___ATTACCGAGTATATGCGGCAGGCGGGATGGGCCTGGACCTACGTCCACACAACCACCTCCAACACTATGACATGCTGAAGGACATGTGGGTGTCCCTAGCACCCATGCCCACCCCGAGATATGCTGCCACCTCCTTCCTCCGAGGCTCCAAGATCTACGTGCTGG___GGGGACGACAGTCCAAGTACGCGGTCAACGCTTTCGAGGTCTTTGACATCGAGACTCGCTCCTGGACCAAGTTTCCCAACATTCCCTATAAGCGGGCCTTCTCCAGCTTTGTGACCCTGGACAACCACTTGTACAGCCTAGGAGGCCTGCGGCAAGGTCGCCTCTACCGGCAGCCCAAGTTCCTGCGGACGATGGACGTGTTCGACATGGAACAGG___GGGGATGGCTGAAGATGGAACGATCGTTCTTCCTCAAGAAGCGGCGGGCAGATTTTGTGGCTGGCTCTCTGAGTGGACGGGTCATAGTGGCTGGGGGACTTG___GGAATCAACCCACTGTCCTGGAGACGGCGGAAGCATTCCACCCAGGGAAGAACAAATGGGAGATCCTCCCTGCCATGCCCACACCCCGCTGTGCCTGCTCCAGCATAGTCGTCAAGAACTGCCTCCTCGCCGTGGGAGGTGTCAACCAGGGTCTGAGTGACGCAGTGGAGGCCCTGTGTGTCTCTGACTCCTAGCTGTCTCTGGGCTCAGTACCTTTGCCCTGGACCATATCACTTCACTCTTAACATGAGGAATGATCTTGTCCAAGCAGTCGGGGCTACTTCCAAGAATGTCAGCTCCTGTTAGCAACCAGTGGAGTCTGGCCTTGGGGCTCTAAGTTGACCTCTCTATAGCTCCAAATCCTACCAATCTCAGAAAACTGTAAGAGGCACAGATGACTCCACCAGCTGCAGAGCTGACTCTGAAGAGAGTCTTCACTTACTGCACAGGCAAAGAAAGGCACAGGAATATTTCCTACCTCTCCCTCCTGTGAGTCCCACCTCCCCCCACCCCCATCTCCAGGAGGCAGGTAGAGCAGTTCTGACCGAGAGGATAGACTGCTGTTGCTGTCTTTCCCCAGCTCTGAACTAGTTTTAAGGTAGCTTAGGATGAAAAATGGAGAATGATTGGGGGTTCCAAACCACTTTCTTCTCCCTTGGCTTATATCTCTTCACCATTTGGTGGTCAACTGTGGGCCTACCCTGGACCTCATCTACTCAGCGAGAATTGGACATGAAGCTAGAGGCAGCTGCCTTGGAAGGGAAGTCAGGCTCACTTGGACAGCCCAGGCCATGGCAGGAAGAATCCCTTCCTCTTGGGGTCCTTGATGGGCATGTGTGATGGGGAAGGAGCAGTCTCCCAGCCCTGGGTCTGCTCCCCACATCTCTCCTAATTCCACTTCACCTTTTGCCACCCCCTCCCCACCAGAGGCCTAGCCCTTTTGTCACCGAAGGCCCCCAGAGTGTTTCTGTGTGAAACCCTCTCATTTACACTGTGGCATCAAAATCCACAAAAGATGGATTAATTGCACTCTGGTTAATAGCAGCAGCACAATGATTAAAATCTATATTCCTATCTTCTCTAGCACCCTGGTGTGGGGATGGGGCGGAAGGGTGTCTTGAGGGGCAGGGAGGACCCCATAAAACAATCC)CTCCTGCATTCTCAGGCTAAATAGGGCCCCCAGTGACTACCTGTTCTTGGCTGTCCCCTCTGAAGAGCTCTGCCTTCTCACAGCCACCACCAGTTGCCCCACTCCCAGGAAAACAGCACATGTTCTTCTTCTCCTGCCTTGAGACTGCGTGTTAGTCTTCCATTCATAACTCATCAGCAGCTCAGTCCTTCTTATGTCTAGTCTCAGTTCATTCAGCCAAAGCTCATTTTTGT|GCCTCCGTTTCCTCAGTGGTAAAGTGAAGATAATAATAGTACTTACCTCATAGGATTGTTATGGGGAAGAATGAGTTAATACAGGTAAAGGAATTAGAACAGTGCC . 22BR005 ENSG00000198863.7 ENSG00000275722.5(17843),ENSG00000273736.1(1932) +/+ ./+ chr17:42981074 chr17:35961556 CDS/splice-site intergenic duplication 0 3 0 21 18 medium out-of-frame . . . . ENSG00000198863.7 . ENST00000361677.5 . downstream upstream . ^(GTTTCCGGGAAGATGGCGGCTGTCGAAGCGGCTGCAGAGCCGGTAACGGTGGTGGCGGCTGTTGGGCCAAAGGCGAAAGACGAAGAGGAGGAGGAAGAGGAGCCGCTGCCACCGTGCGAGGCGGTGCGCTGGGCCCCAGTGGGGGCGGTGGCGGAGGCCCGGCCTGGGGCAACCGCGTTTTTAGAAGAGGCGACGGCCGAGGAGCCTGGCGCGGCCCCGGGCTCCCCGCCGGATTCGCCGGGCCGGACGCTGCGGCGGCTGCGGGCAGAGCGGCGGCGGCTGGACTCGGCGCTGCTGGCGCTGTCCTCGCACTTCGCGCAGGTGCAGTTCCGCCTGCGCCAGGTGGTGCGCGGGGCGCCGGCGGAGCAGCAGCGCCTTCTGCGGGAGCTCGAAGACTTCGCCTTCCGCGGCTGCCCTCACGTCCTAGGTTACGAAGGGCCCGGCGACCCC)GCCAGCGATGAGGGCGATGGGCTGCCAGGGGACCGGCCAcGGTTGCGGGGCGAGGACCAG|GAAGCTACTGGAGGATATGTTCCACCAAAATGAAGAATCAAATCGAGAAACAATATGACATAGATGAAACACAGAAGAGAACTGACAGGAACTTCCAGGAGAACAAGGTGGAAAGCCCTCAGAGTGTCC MAAVEAAAEPVTVVAAVGPKAKDEEEEEEEPLPPCEAVRWAPVGAVAEARPGATAFLEEATAEEPGAAPGSPPDSPGRTLRRLRAERRRLDSALLALSSHFAQVQFRLRQVVRGAPAEQQRLLRELEDFAFRGCPHVLGYEGPGDPASDEGDGLPGDRPrLRGEDQ|eatggyvppk* 22BR005 ENSG00000171475.14 ENSG00000275722.5(17843),ENSG00000273736.1(1932) +/+ ./+ chr17:40260667 chr17:35961556 CDS/splice-site intergenic duplication 0 3 0 36 18 medium out-of-frame . WH2_motif(100%)| . . ENSG00000171475.14 . ENST00000323571.9 . downstream upstream . ^(ATTTTGTTCGCGGACGCTGGGGACGGTGGGAGCAGATCCATTTCCGGGTTGGCAAAAGGGGCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGACGGCGAGAAAGAGCTTGCCGGGGGGCGAGCAGGACAGGACGAAGCCGGAGTGTAGGCGGCAGAGGATTCGCTCCCAGAGCAGCTGCGGCCAG___GTATATGAATGACCTAAAGGTACAAATAAAGACGGAGAGAGAACAGTGCCAACTGGGAGCAGGGCAAGAATGCCAATTCCTCCTCCCCCGCCACCCCCACCTGGTCCTCCTCCACCTCCCACATTTCATCAG___GCAAACACAGAGCAGCCCAAGCTGAGTAGAGATGAGCAGCGGGGTCGAGGCGCCCTCTT)ACAGGACATTTGCAAAGGGACCAAGCTGAAGAAGGTGACCAAaATTAATGATCGGAGTGCTCCCATCCTCGAGA|GAAGCTACTGGAGGATATGTTCCACCAAAATGAAGAATCAAATCGAGAAACAATATGACATAGATGAAACACAGAAGAGAACTGACAGGAACTTCCAGGAGAACAAGGTGGAAAGCCCTCAGAGTGTCCTAGGCCCAGACTAAGCTCGACGGAGGGCTCTAAGACGGATGACTCATGAAACCCCATCTCTACTAAAA MPIPPPPPPPPGPPPPPTFHQANTEQPKLSRDEQRGRGALLQDICKGTKLKKVTkINDRSAPILE|rsywricstkmknqiekqydidetqkrtdrnfqenkvespqsvlgpd* 22BR005 ENSG00000156639.12 ENSG00000236373.2 +/+ -/- chr6:37929999 chr10:90543450 CDS/splice-site exon/splice-site translocation 0 3 0 136 9 medium out-of-frame . A20-like_zinc_finger(100%)| . . ENSG00000156639.12 ENSG00000236373.2 ENST00000287218.9 ENST00000660339.1 downstream downstream . ^(CTCCCCGTCTCCGCAGGCCGAGTGGTGCGGCCCGCCTCCAGCTGACCGGCCTGGAATCCCGGCTCCGAGCCCCGGACTCGCGCCCGCCCGCGCGCCCGCTCCTTCCCCCTCCCCCCGCCCCGAGCCCCCCGACGCCGCCGCCACCGCCTCCTCAGAGCGGGGCCCGGGCCCAGCCGCCGCCACCGCTGCCGCCGCCGAGCTCCGCCGCCGCCGAGCACCATGGGAGACGCTGGGAGCGAGCGC)AGCAAAGCGCCCAGCCTGCCGCCTCGCTGTCCCTGCGGCTTCTGGGG___GTCCAGCAAGACTATGAATCTCTGTTCCAAATGCTTTGCTG|ACACTTGATTAGCCTTAGGCAGTCCTGTGCATCACAGCCTTCTGCAATACCTGCCAGATCATCTACAGAAGCT___AGGGTGAAAACCCAGGGTATTATATCCTTAGAATTTATTTCTACCAGAAAGTTGCCACTTTATATATTCTGCCAACAAGCTTGCTTGCAAGAGGAGAAGCCACTATTATTCCCGAGTCAGTGGCATGAACACGTGGAC(TGCAGAGATAACTGAGGTAAGATTTGATGAATGACTTCCTTGTGTCATTATATTCTGAAGTGGCAGTTTCCTGTGATTCTTATTCATACTGATTTTTTGAACACTAGCAATGACTTCCCTGATCCTTGCTTTATCACTCATCCCAAAGGTTTGGTAACTTTCCAATCTCTGTATTACATCCCTTTCAGTTTGAAATCTCAAGCATATTCTGTTTTTCTAACCAACCTCTGACTGATATGCAGAATTTCAACAGCTGCCCAAGGTCTCACAGTTAATCAGATTTGAATCCAGATCTGTCCAGCTTTTGACTATATGAATTCTTGAGTTCTGTATCTTTCTTCAGACGATTGTGGGTTGCTTTACATTCCTAAATGGAGAATAGCATGTTTGGAGTTCTGTAGGGGGAAAAGATTATACCTCTATATCTAAATCTAATCTATGTAGTACTTATATCACTTTGTGTTTCCTTAGACTGATTTGGAGAAGTCTGAGGCAAATTAAAATATATAGCTACAAGGAAACCAGAAAGAACTATCTGAAGATTTGAACTACTCCTTTTGTTATTTTTCATAGCCATGGGTTAAAGAGGGAGGATAGTAGAGATTAGCAAGAGGGAAAACAAGAGATTTGTGATTTGGAGTGACACAACTACTGATCCAGTTATAACCACCCATCCCTGCATTTGTATGTTTGGATGAGTATTTTTAAAATATTAAATTCTAGTCATTGTCAATATTTGTAGTATAATGTAAATATTATCCAGAAGGGGCTGATTTATGTAAAATATTTAGTTTGACTCAGGAAGAATAAATAACAGATCACATTGTTGTTGCTACCATTCATCTTATAAAAGTTAACAATTAAATTTAGAAACATGCTTATTTATACATTATTGACATTTCAGACACAATTGATTTTATTTGCTTATAAATAACTAGCTCTGCAACAATGTTTTACTTTTCCATTCATCAGCTTGTTTTTAAAATGTTTTGAAAGGACAGAGAGTGAAAGTTGGATTAACAATGAAGCAATTAATTTAATTGCAAAAGAAATGACTAGGCAAAATATATAGTGTAAAGGAAGGAATCTAGATAAGTACTTGTGTTGCTATGGGGACTGGATTTATAGATGACCTTAAAAAGAGAATTAATTTCCTTGGATGTTTCTCTTGTGCAGTTTTACTCTCAGATTGTAAATGGTC)$ MGDAGSERSKAPSLPPRCPCGFWGSSKTMNLCSKCFA|dt* 22BR005 ENSG00000108443.14 ENSG00000201524.1(1123),ENSG00000108423.15(10812) +/+ ./+ chr17:59936541 chr17:59848667 CDS/splice-site intergenic duplication 3 0 0 111 1 medium out-of-frame . Protein_kinase_domain(100%)| . . ENSG00000108443.14 . ENST00000225577.9 . downstream upstream . ^(GCACTGAGCCTAAGCAGCCGGTGATGGCGGCAGCGGCTGTGGTGGCTGCGGCGGGTCCGGGCCCATGAGGCGACGAAGGAGGCGGGACGGCTTTTACCCAGCCCCGGACTTCCGAGACAGGGAAGCTGAGGACATGGCAGGAGTGTTTGACATAGACCTGGACCAGCCAGAGGACGCGGGCTCTGAGGATGAGCTGGAGGAGGGG___GGTCAGTTAAATGAAAGCATGGACCATGGGGGAGTTGGACCATATGAACT___TGGCATGGAACATTGTGAGAAATTTGAAATCTCAGAAACTAGTGTGAACAGAGGGCCAGAAAAAATCAGACCAGAATGTTTTGAGCTACTTCGGGTACTTGGTAAAGGGGGCTATGGAAAG___GTTTTTCAAGTACGAAAAGTAACAGGAGCAAATACTGGGAAAATATTTGCCATGAAGGTGCTTAAAAAG___GCAATGATAGTAAGAAATGCTAAAGATACAGCTCATACAAAAGCAGAACGGAATATTCTGGAGGAAGTAAAGCATCCCTTCATCGTGGATTTAATTTATGCCTTTCAGACTGGTGGAAAACTCTACCTCATCCTTGAGTATCTCAGTG___GAGGAGAACTATTTATGCAGTTAGAAAGAGAGGGAATATTTATGGAAGACACTGCCTG___CTTTTACTTGGCAGAAATCTCCATGGCTTTGGGGCATTTACATCAAAAGGGGATCATCTACAGAGACCTGAAGCCGGAGAATATCATGCTTAATCACCAAG___GTCATGTGAAACTAACAGACTTTGGACTATGCAAAGAATCTATTCATGATGGAACAGTCACACACACATTTTGTGGAACAATAGAATACAT___GGCCCCTGAAATCTTGATGAGAAGTGGCCACAATCGTGCTGTGGATTGGTGGAGTTTGGGAGCATTAATGTATGACATGCTGACTGGAGCA___CCCCCATTCACTGGGGAGAATAGAAAGAAAACAATTGACAAAATC)CTCAAATGTAAACTCAATTTGCCTCCCTACCTCACACAAGAAGCCAGAGATCTGCTTAAAAAG___CTGCTGAAAAGAAATGCTGCTTCTCGTCTGGGAGCTGGTCCTGGGGACGCTGGAGAAGTTCAA___GCTCATCCATTCTTTAGACACATTAACTGGGAAGAACTTCTGGCTCGAAAGGTGGAGCCCCCCTTTAAACCTCTGTTG|GAGATGGGGTCTCCCATGTTACCCAGGCCGAACTCCAACTCCTGGGCTCAAGTCATCCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACTCACCACCACACTTGGGTAAAAGTAATTTCTATTTCTA MRRRRRRDGFYPAPDFRDREAEDMAGVFDIDLDQPEDAGSEDELEEGGQLNESMDHGGVGPYELGMEHCEKFEISETSVNRGPEKIRPECFELLRVLGKGGYGKVFQVRKVTGANTGKIFAMKVLKKAMIVRNAKDTAHTKAERNILEEVKHPFIVDLIYAFQTGGKLYLILEYLSGGELFMQLEREGIFMEDTACFYLAEISMALGHLHQKGIIYRDLKPENIMLNHQGHVKLTDFGLCKESIHDGTVTHTFCGTIEYMAPEILMRSGHNRAVDWWSLGALMYDMLTGAPPFTGENRKKTIDKILKCKLNLPPYLTQEARDLLKKLLKRNAASRLGAGPGDAGEVQAHPFFRHINWEELLARKVEPPFKPLL|emgspmlprpnsnswaqvilppqppe* 22BR005 ENSG00000144452.15 ENSG00000243125.3(136644),ENSG00000233299.1(12829) -/- ./- chr2:214983647 chr2:223385438 CDS/splice-site intergenic duplication 0 2 0 10 2 medium out-of-frame . ABC-2_family_transporter_protein(100%),ABC_transporter(100%)| . . ENSG00000144452.15 . ENST00000272895.12 . upstream downstream . ^(GTGGATAGGCAATTAATTTCATGGAGAGTAGGAGGTGTGGGTTCAGCTGCTGCTTTTTTTTTTTTTTCAGTGAGGCATTATCTGAATGATGCTCATTCTCTCTTGAGTCTGGACTTCGTGCAACAAGCAGCAACTGGATATTATTTTAAAATAAGCATAAGCCACCCAAAGATACTGATCTGGGTCCTTCTTTTGGAAGAAGAGTTGATTGAGAAGTGCCTCTTGGTTAAGGATTAACCACAGGGAAAAATCCAGCAGAAACAGAAGAACTGTGGGTTTCTTACCCCAGCCCTCAAGGAAGCTATGCCGTGAAAGGGGTACTGATACACTGACATACAGCAAGTTGGACGGGGCATCAGTTCTTCATTTGTGGAGTGGAGAAAAGAAGAGGAAATCTCTCATTTGGGGCATTTGAAGGATGGCTTCCCTGTTTCATCAGCTTCAGATCCTGGTCTGGAAAAATTGGCTAGGTGTAAAAAGGCAGCCG___CTTTGGACACTTGTCTTGATCTTATGGCCAGTCATTATTTTCATAATTTTGGCTATTACTCGGACCAAATTTCCTCCAACTGCAAAACCAACTT___GTTACCTCGCACCTCGAAACCTTCCTAGTACTGGATTCTTTCCATTCCTGCAGACCCTACTCTGTGACACAGACTCTAAATGCAAAGACACACCCTATGGCCCACAAGATCTGCTTCGTAGGAAAGGAATTGATGATGCACTATTTAAAGACAG___TGAGATTCTGAGAAAGTCATCCAACCTGGATAAGGACAGCAGTTTATCATTCCAGAGCACCCAAGTTCCAGAAAGAAGGCATGCATCACTAG___CCACAGTATTTCCCAGTCCAAGTTCTGATTTGGAAATCCCCGGAACATATACTTTCAATGGCAGTCAAGTGCTCGCACGAATTCTTGGCTTGGAAAAG___CTGTTAAAGCAAAATTCAACTTCAGAAGATATACGAAGAGAACTATGTGACAGCTATTCAGGATACATTGTGGATGATGCCTTCTCTTGGACCTTTCTAGGAAGAAATGTTTTTAACAAATTTTGCCTTTCTAACATGACCCTTTTAGAGTCTTCTCTCCAAGAACTAAACAAACAGTTCTCCCAG___CTATCCAGTGACCCCAACAATCAGAAGATAGTGTTTCAGGAAATAGTCAGAATGCTGTCTTTCTTCTCACAAGTGCAAGAGCAGAAAGCTGTGTGGCAGCTTCTGTCTAGTTTTCCAAATGTGTTTCAGAATGACACATCACTAAGCAATCTATTTGATGTTCTTCGAAAGGCAAACAG___TGTGCTGCTGGTTGTGCAGAAGGTTTATCCACGTTTTGCAACTAACGAAGGTTTCAGAACCCTCCAGAAGTCTGTTAAACATCTGCTGTACACTCTGGACTCCCCAGCTCAAG___GTGACTCCGATAATATAACGCATGTGTGGAATGAGGATGATGGACAGACCTTATCTCCAAGCAGTCTGGCTGCACA___GCTCCTAATTCTGGAAAACTTTGAAGATGCCCTCTTAAATATATCAGCAAATAGTCCTTATATTCCTTACTTGGCATGTGTGAGAAATGTGACTGACAGTTTGGCCAGAGGTTCACCAG___AAAATCTAAGACTCCTGCAGTCCACAATACGATTTAAAAAATCTTTTCTTCGCAATGGTTCCTATGAAGATTACTTTCCTCCAGTTCCTGAAGTCCTAAAATCAAAA___CTGTCTCAACTTCGAAACTTGACCGAACTTCTTTGTGAATCTGAAACTTTCAGTTTGATAGAGAAGTCATGCCAGCTCTCTGATATGAGCTTTGGGAGCCTGTGTGAAGAAAGTGAGTTTGATCTGCAACTCCTCGAAGCGGCAGAGCTGGGCACCGAAATAGCAGCCAGCTTACTGTACCATGACAATGTCATATCTAAAAAAGTGAGAGATTTGCTGACTGGAGATCCAAGCAAAATTAATTTAAATATGGATCA___GTTTCTAGAACAGGCACTGCAAATGAATTACTTGGAAAATATCACTCAGTTAATACCGATCATAGAAGCCATGCTGCATGTCAATAACAGTGCAGATGCTTCTGAAAAGCCAG___GTCAGTTACTAGAAATGTTTAAAAATGTTGAAGAGCTGAAAGAAGATTTAAGGAGAACAACAGGAATGTCCAACAGGACTATTGACAAGTTGCTGGCCATTCCCATCCCTGATAATAGAGCTGAG___ATTATTTCTCAGGTGTTCTGGCTGCATTCCTGTGATACTAATATCACCACTCCCAAACTAGAAGATGCAATGAAAGAATTCTGCAACCTGTCTCTTTCAGAGAGATCCCGGCAGTCTTACCTCATCGGACTCACCCTTCTGCACTACTTAAACATTTACAACTTCACATACAAG___GTGTTTTTCCCGAGGAAAGATCAAAAGCCAGTAGAAAAGATGATGGAGCTCTTCATAAGACTAAAAGAGATTCTCAATCAGATGGCTTCTGGCACACATCCGCTGCTAGACAAAATGAGATCCCTGAAGCAAATGCATCTGCCCAGAAGTGTTCCATTAACACAG___GCAATGTACAGAAGCAACCGAATGAACACACCACAAGGATCATTTAGCACCATCTCCCAAGCATTATGTTCTCAAGGAATTACCACTGAATATTTAACTGCCATGCTGCCCTCTTCCCAGAGGCCAAAAGGCAACCACACCAAGGATTTTTTGACTTATAAATTAACTAAAGAGCAAATTGCTTCAAAATATGGAATTCCCATAAATTCCA___CACCATTTTGCTTCTCCCTTTATAAAGACATCATTAACATGCCCGCTGGACCTGTGATTTGGGCTTTCTTGAAACCTATGTTGTTGGGAAGAATTTTGTATGCACCATATAACCCAGTCACAAAGGCAATAATGGAAAAG___TCCAATGTAACTCTGAGACAGCTGGCGGAATTAAGAGAAAAATCTCAAGAGTGGATGGATAAGTCGCCACTTTTCATGAATTCCTTCCATCTGTTAAACCAGGCAATTCCAATGCTCCAG___AATACTCTAAGGAACCCTTTTGTGCAAGTTTTTGTAAAGTTCTCCGTGGGACTCGATGCTGTTGAACTATTGAAACAGATAGATGAACTCG___ATATTCTAAGACTGAAATTAGAGAACAACATTGACATCATCGATCAGCTTAACACACTATCTTCCCTGACAGTAAATATTTCCTCTTGTGTATTATATGACCGTATTCAGGCAGCAAAAACCATAGATGAAATGGAGAGAGAGGCTAAAAGGCTCTACAAAAGCAACGAACTCTTTGGAA___GTGTTATTTTTAAGCTTCCTTCTAACAGAAGCTGGCACAGAGGCTATGACTCTGGAAATGTCTTTCTTCCTCCTGTCATAAAATATACCATCCGGATGAGTCTCAAGACCGCACAGACCACAAGAAGCCTAAGAACCAAGATTTGGGCTCCAGGGCCACACAATTCTCCATCACACAACCAGATCTATGGCAGGGCTTTTATTTATTTACAGGATAGTATTGAAAGAGCAATCATTGAATTGCAAACTGGAAGGAACTCCCAGGAAATAGCAGTCCAGGTTCAAGCAATTCCTTATCCCTGCTTCATGAAAGACAA___CTTCCTAACCAGTGTCTCTTATTCTCTTCCAATTGTGCTTATGGTTGCCTGGGTTGTATTTATAGCTGCCTTTGTAAAAAAGCTTGTCTATGAGAAAGACCTCCGGCTTCATGAG___TACATGAAGATGATGGGTGTGAACTCCTGCAGCCATTTCTTTGCCTGGCTTATAGAGAGTGTTGGATTTTTACTGGTTACCATCGTGATCCTCATCATTATACTCAAGTTTGGCAATATTCTTCCTAAAACAAATGGGTTCATTTTGTTCCTGTATTTTTCGGACTACAGCTTCTCGGTTATTGCCATGAGCTATCTTATCAGTGTCTTCTTCAACAACACCAACATTGCAGCTCTGATCGGAAGCCTCATCTACATCATTGCCTTCTTTCCATTTATTGTTCTGGTTACAGTGGAGAATGAGTTGAGCTATGTATTGAAAGTGTTCATG___AGCCTGCTGTCCCCAACAGCATTCAGCTATGCAAGCCAATACATTGCACGATACGAAGAACAGGGCATTG___GTCTTCAGTGGGAAAATATGTACACCTCCCCGGTTCAGGATGACACCACCTCATTTGGCTGGCTGTGCTGTCTAATCCTAGCTGACTCTTTCATTTATTTCCTTATTGCTTGGTATGTCAGGAATGTCTTCCCAG___GGACATACGGTATGGCAGCTCCCTGGTATTTTCCAATTCTTCCTTCCTATTGGAAGGAGCGATTTGGGTGTGCAGAGGTGAAGCCTGAGAAGAGCAATGGCCTCATGTTTACTAACATCATGATGCAGAACACCAACCCATCTGCCA___GTCCTGAATACATGTTTTCCTCTAACATCGAGCCTGAACCTAAAGATCTCACAGTCGGGGTTGCCCTGCATGGGGTCACAAAGATCTATGGCTCAAAAGTTGCTGTTGATAACCTCAATCTGAACTTTTATGAAGGGCATATTACTTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTACCAT___TTCCATGTTAACTGGGCTGTTTGGGGCCTCAGCAGGCACCATTTTTGTATATGGAAAAGATATCAAAACAGACCTACACACGGTACGGAAGAACATGGGAGTCTGTATGCAGCACGACGTCTTGTTCAGTTACCTCACTACTAAGGAGCAC)CTTCTCCTATATGGTTCCATCAAAGTTCCTCACTGGACTAAAAAGCAGCTCCACGAGGAAGTAAAAAG|TTTGCAGCTATCATTTGAAAAACTCTTCTGAACATGGAGAGATGATGGTCTCATGGAATCTGCATGACCAGGGAGCGAACTTGGAATACTTACTTGTTGACCTGATGAAGATATTGTTAACCTATTTTAGTTGTGCATAAAGCTTAAAAACATGTTCAATGCTGGGAATTTGAGTACCCGGGCACATGTTGAAGGCCTAGAGTTTAAGGC MASLFHQLQILVWKNWLGVKRQPLWTLVLILWPVIIFIILAITRTKFPPTAKPTCYLAPRNLPSTGFFPFLQTLLCDTDSKCKDTPYGPQDLLRRKGIDDALFKDSEILRKSSNLDKDSSLSFQSTQVPERRHASLATVFPSPSSDLEIPGTYTFNGSQVLARILGLEKLLKQNSTSEDIRRELCDSYSGYIVDDAFSWTFLGRNVFNKFCLSNMTLLESSLQELNKQFSQLSSDPNNQKIVFQEIVRMLSFFSQVQEQKAVWQLLSSFPNVFQNDTSLSNLFDVLRKANSVLLVVQKVYPRFATNEGFRTLQKSVKHLLYTLDSPAQGDSDNITHVWNEDDGQTLSPSSLAAQLLILENFEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFPPVPEVLKSKLSQLRNLTELLCESETFSLIEKSCQLSDMSFGSLCEESEFDLQLLEAAELGTEIAASLLYHDNVISKKVRDLLTGDPSKINLNMDQFLEQALQMNYLENITQLIPIIEAMLHVNNSADASEKPGQLLEMFKNVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVFWLHSCDTNITTPKLEDAMKEFCNLSLSERSRQSYLIGLTLLHYLNIYNFTYKVFFPRKDQKPVEKMMELFIRLKEILNQMASGTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQGSFSTISQALCSQGITTEYLTAMLPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPFCFSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQEWMDKSPLFMNSFHLLNQAIPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDELDILRLKLENNIDIIDQLNTLSSLTVNISSCVLYDRIQAAKTIDEMEREAKRLYKSNELFGSVIFKLPSNRSWHRGYDSGNVFLPPVIKYTIRMSLKTAQTTRSLRTKIWAPGPHNSPSHNQIYGRAFIYLQDSIERAIIELQTGRNSQEIAVQVQAIPYPCFMKDNFLTSVSYSLPIVLMVAWVVFIAAFVKKLVYEKDLRLHEYMKMMGVNSCSHFFAWLIESVGFLLVTIVILIIILKFGNILPKTNGFILFLYFSDYSFSVIAMSYLISVFFNNTNIAALIGSLIYIIAFFPFIVLVTVENELSYVLKVFMSLLSPTAFSYASQYIARYEEQGIGLQWENMYTSPVQDDTTSFGWLCCLILADSFIYFLIAWYVRNVFPGTYGMAAPWYFPILPSYWKERFGCAEVKPEKSNGLMFTNIMMQNTNPSASPEYMFSSNIEPEPKDLTVGVALHGVTKIYGSKVAVDNLNLNFYEGHITSLLGPNGAGKTTTISMLTGLFGASAGTIFVYGKDIKTDLHTVRKNMGVCMQHDVLFSYLTTKEHLLLYGSIKVPHWTKKQLHEEVKs|lqlsfeklf* 22BR005 ENSG00000008710.20 ENSG00000196696.13 -/- -/- chr16:2097728 chr16:69990682 CDS/splice-site exon/splice-site duplication 0 2 0 7 37 medium out-of-frame . Lectin_C-type_domain(100%),Leucine_rich_repeat(100%),PKD_domain(100%),PLAT/LH2_domain(100%),REJ_domain(100%),WSC_domain(100%)| . . ENSG00000008710.20 ENSG00000196696.13 ENST00000262304.9 ENST00000530079.5 upstream downstream . ^(GCACTGCAGCGCCAGCGTCCGAGCGGGCGGCCGAGCTCCCGGAGCGGCCTGGCCCCGAGCCCCGAGCGGGCGTCGCTCAGCAGCAGGTCGCGGCCGCAGCCCCATCCAGCCCCGCGCCCGCCATGCCGTCCGCGGGCCCCGCCTGAGCTGCGGCCTCCGCGCGCGGGCGGGCCTGGGGACGGCGGGGCCATGCGCGCGCTGCCCTAACGATGCCGCCCGCCGCGCCCGCCCGCCTGGCGCTGGCCCTGGGCCTGGGCCTGTGGCTCGGGGCGCTGGCGGGGGGCCCCGGGCGCGGCTGCGGGCCCTGCGAGCCCCCCTGCCTCTGCGGCCCAGCGCCCGGCGCCGCCTGCCGCGTCAACTGCTCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCT___AGACGTCTCCCACAACCTGCTCCGGGCGCTGGACGTTGGGCTCCTGGCGAACCTCTCGGCGCTGGCAGAGCT___GGATATAAGCAACAACAAGATTTCTACGTTAGAAGAAGGAATATTTGCTAATTTATTTAATTTAAGTGAAAT___AAACCTGAGTGGGAACCCGTTTGAGTGTGACTGTGGCCTGGCGTGGCTGCCGCGATGGGCGGAGGAGCAGCAGGTGCGGGTGGTGCAGCCCGAGGCAGCCACGTGTGCTGGGCCTGGCTCCCTGGCTGGCCAGCCTCTGCTTGGCATCCCCTTGCTGGACAGTGGCTGTG___GTGAGGAGTATGTCGCCTGCCTCCCTGACAACAGCTCAGGCACCGTGGCAGCAGTGTCCTTTTCAGCTGCCCACGAAGGCCTGCTTCAGCCAGAGGCCTGCAGCGCCTTCTGCTTCTCCACCGGCCAGGGCCTCGCAGCCCTCTCGGAGCAGGGCTGGTGCCTGTGTGGGGCGGCCCAGCCCTCCAGTGCCTCCTTTGCCTGCCTGTCCCTCTGCTCCGGCCCCCCGCCACCTCCTGCCCCCACCTGTAGGGGCCCCACCCTCCTCCAGCACGTCTTCCCTGCCTCCCCAGGGGCCACCCTGGTGGGGCCCCACGGACCTCTGGCCTCTGGCCAGCTAGCAGCCTTCCACATCGCTGCCCCGCTCCCTGTCACTGCCACACGCTGGGACTTCGGAGACGGCTCCGCCGAGGTGGATGCCGCTGGGCCGGCTGCCTCGCATCGCTATGTGCTGCCTGGGCGCTATCACGTGACGGCCGTGCTGGCCCTGGGGGCCGGCTCAGCCCTGCTGGGGACAGACGTGCAGGTGGAAGCGGCACCTGCCGCCCTGGAGCTCGTGTGCCCGTCCTCGGTGCAGAGTGACGAGAGCCTCGACCTCAGCATCCAGAACCGCGGTGGTTCAGGCCTGGAGGCCGCCTACAGCATCGTGGCCCTGGGCGAGGAGCCGGCCCGAG___CGGTGCACCCGCTCTGCCCCTCGGACACGGAGATCTTCCCTGGCAACGGGCACTGCTACCGCCTGGTGGTGGAGAAGGCGGCCTGGCTGCAGGCGCAGGAGCAGTGTCAGGCCTGGGCCGGGGCCGCCCTGGCAATGGTGGACAGTCCCGCCGTGCAGCGCTTCCTGGTCTCCCGGGTCACCAG___GAGCCTAGACGTGTGGATCGGCTTCTCGACTGTGCAGGGGGTGGAGGTGGGCCCAGCGCCGCAGGGCGAGGCCTTCAGCCTGGAGAGCTGCCAGAACTGGCTGCCCGGGGAGCCACACCCAGCCACAGCCGAGCACTGCGTCCGGCTCGGGCCCACCGGGTGGTGTAACACCGACCTGTGCTCAGCGCCGCACAGCTACGTCTGCGAGCTGCAGCCCGGAG___GCCCAGTGCAGGATGCCGAGAACCTCCTCGTGGGAGCGCCCAGTGGGGACCTGCAGGGACCCCTGACGCCTCTGGCACAGCAGGACGGCCTCTCAGCCCCGCACGAGCCCGTGGAG___GTCATGGTATTCCCGGGCCTGCGTCTGAGCCGTGAAGCCTTCCTCACCACGGCCGAATTTGGGACCCAGGAGCTCCGGCGGCCCGCCCAGCTGCGGCTGCAGGTGTACCGGCTCCTCAGCACAGCAG___GGACCCCGGAGAACGGCAGCGAGCCTGAGAGCAGGTCCCCGGACAACAGGACCCAGCTGGCCCCCGCGTGCATGCCAGGGGGACGCTGGTGCCCTGGAGCCAACATCTGCTTGCCGCTGGACGCCTCCTGCCACCCCCAGGCCTGCGCCAATGGCTGCACGTCAGGGCCAGGGCTACCCGGGGCCCCCTATGCGCTATGGAGAGAGTTCCTCTTCTCCGTTCCCGCGGGGCCCCCCGCGCAGTACTCG___GTCACCCTCCACGGCCAGGATGTCCTCATGCTCCCTGGTGACCTCGTTGGCTTGCAGCACGACGCTGGCCCTGGCGCCCTCCTGCACTGCTCGCCGGCTCCCGGCCACCCTGGTCCCCGGGCCCCGTACCTCTCCGCCAACGCCTCGTCATGGCTGCCCCACTTGCCAGCCCAGCTGGAGGGCACTTGGGCCTGCCCTGCCTGTGCCCTGCGGCTGCTTGCAGCCACGGAACAGCTCACCGTGCTGCTGGGCTTGAGGCCCAACCCTGGACTGCGGCTGCCTGGGCGCTATGAGGTCCGGGCAGAGGTGGGCAATGGCGTGTCCAGGCACAACCTCTCCTGCAGCTTTGACGTGGTCTCCCCAGTGGCTGGGCTGCGGGTCATCTACCCTGCCCCCCGCGACGGCCGCCTCTACGTGCCCACCAACGGCTCAGCCTTGGTGCTCCAGGTGGACTCTGGTGCCAACGCCACGGCCACGGCTCGCTGGCCTGGGGGCAGTGTCAGCGCCCGCTTTGAGAATGTCTGCCCTGCCCTGGTGGCCACCTTCGTGCCCGGCTGCCCCTGGGAGACCAACGATACCCTGTTCTCAGTGGTAGCACTGCCGTGGCTCAGTGAGGGGGAGCACGTGGTGGACGTGGTGGTGGAAAACAGCGCCAGCCGGGCCAACCTCAGCCTGCGGGTGACGGCGGAGGAGCCCATCTGTGGCCTCCGCGCCACGCCCAGCCCCGAGGCCCGTGTACTGCAGGGAGTCCTAGTG___AGGTACAGCCCCGTGGTGGAGGCCGGCTCGGACATGGTCTTCCGGTGGACCATCAACGACAAGCAGTCCCTGACCTTCCAGAACGTGGTCTTCAATGTCATTTATCAGAGCGCGGCGGTCTTCAAGCTCTCA___CTGACGGCCTCCAACCACGTGAGCAACGTCACCGTGAACTACAACGTAACCGTGGAGCGGATGAACAGGATGCAGGGTCTGCAGGTCTCCACAGTGCCGGCCGTGCTGTCCCCCAATGCCACGCTAGCACTGACGGCGGGCGTGCTGGTGGACTCGGCCGTGGAGGTGGCCTTCCT___GTGGACCTTTGGGGATGGGGAGCAGGCCCTCCACCAGTTCCAGCCTCCGTACAACGAGTCCTTCCCGGTTCCAGACCCCTCGGTGGCCCAGGTGCTGGTGGAGCACAATGTCATGCACACCTACGCTGCCCCAG___GTGAGTACCTCCTGACCGTGCTGGCATCTAATGCCTTCGAGAACCTGACGCAGCAGGTGCCTGTGAGCGTGCGCGCCTCCCTGCCCTCCGTGGCTGTGGGTGTGAGTGACGGCGTCCTGGTGGCCGGCCGGCCCGTCACCTTCTACCCGCACCCGCTGCCCTCGCCTGGGGGTGTTCTTTACACGTGGGACTTCGGGGACGGCTCCCCTGTCCTGACCCAGAGCCAGCCGGCTGCCAACCACACCTATGCCTCGAGGGGCACCTACCACGTGCGCCTGGAGGTCAACAACACGGTGAGCGGTGCGGCGGCCCAGGCGGATGTGCGCGTCTTTGAGGAGCTCCGCGGACTCAGCGTGGACATGAGCCTGGCCGTGGAGCAGGGCGCCCCCGTGGTGGTCAGCGCCGCGGTGCAGACGGGCGACAACATCACGTGGACCTTCGACATGGGGGACGGCACCGTGCTGTCGGGCCCGGAGGCAACAGTGGAGCATGTGTACCTGCGGGCACAGAACTGCACAGTGACCGTGGGTGCGGCCAGCCCCGCCGGCCACCTGGCCCGGAGCCTGCACGTGCTGGTCTTCGTCCTGGAGGTGCTGCGCGTTGAACCCGCCGCCTGCATCCCCACGCAGCCTGACGCGCGGCTCACGGCCTACGTCACCGGGAACCCGGCCCACTACCTCTTCGACTGGACCTTCGGGGATGGCTCCTCCAACACGACCGTGCGGGGGTGCCCGACGGTGACACACAACTTCACGCGGAGCGGCACGTTCCCCCTGGCGCTGGTGCTGTCCAGCCGCGTGAACAGGGCGCATTACTTCACCAGCATCTGCGTGGAGCCAGAGGTGGGCAACGTCACCCTGCAGCCAGAGAGGCAGTTTGTGCAGCTCGGGGACGAGGCCTGGCTGGTGGCATGTGCCTGGCCCCCGTTCCCCTACCGCTACACCTGGGACTTTGGCACCGAGGAAGCCGCCCCCACCCGTGCCAGGGGCCCTGAGGTGACGTTCATCTACCGAGACCCAGGCTCCTATCTTGTGACAGTCACCGCGTCCAACAACATCTCTGCTGCCAATGACTCAGCCCTGGTGGAGGTGCAGGAGCCCGTGCTGGTCACCAGCATCAAGGTCAATGGCTCCCTTGGGCTGGAGCTGCAGCAGCCGTACCTGTTCTCTGCTGTGGGCCGTGGGCGCCCCGCCAGCTACCTGTGGGATCTGGGGGACGGTGGGTGGCTCGAGGGTCCGGAGGTCACCCACGCTTACAACAGCACAGGTGACTTCACCGTTAGGGTGGCCGGCTGGAATGAGGTGAGCCGCAGCGAGGCCTGGCTCAATGTGACGGTGAAGCGGCGCGTGCGGGGGCTCGTCGTCAATGCAAGCCGCACGGTGGTGCCCCTGAATGGGAGCGTGAGCTTCAGCACGTCGCTGGAGGCCGGCAGTGATGTGCGCTATTCCTGGGTGCTCTGTGACCGCTGCACGCCCATCCCTGGGGGTCCTACCATCTCTTACACCTTCCGCTCCGTGGGCACCTTCAATATCATCGTCACGGCTGAGAACGAGGTGGGCTCCGCCCAGGACAGCATCTTCGTCTATGTCCTGCAGCTCATAGAGGGGCTGCAGGTGGTGGGCGGTGGCCGCTACTTCCCCACCAACCACACGGTACAGCTGCAGGCCGTGGTTAGGGATGGCACCAACGTCTCCTACAGCTGGACTGCCTGGAGGGACAGGGGCCCGGCCCTGGCCGGCAGCGGCAAAGGCTTCTCGCTCACCGTGCTCGAGGCCGGCACCTACCATGTGCAGCTGCGGGCCACCAACATGCTGGGCAGCGCCTGGGCCGACTGCACCATGGACTTCGTGGAGCCTGTGGGGTGGCTGATGGTGGCCGCCTCCCCGAACCCAGCTGCCGTCAACACAAGCGTCACCCTCAGTGCCGAGCTGGCTGGTGGCAGTGGTGTCGTATACACTTGGTCCTTGGAGGAGGGGCTGAGCTGGGAGACCTCCGAGCCATTTACCACCCATAGCTTCCCCACACCCGGCCTGCACTTGGTCACCATGACGGCAGGGAACCCGCTGGGCTCAGCCAACGCCACCGTGGAAGTGGATGTGCAGGTGCCTGTGAGTGGCCTCAGCATCAGGGCCAGCGAGCCCGGAGGCAGCTTCGTGGCGGCCGGGTCCTCTGTGCCCTTTTGGGGGCAGCTGGCCACGGGCACCAATGTGAGCTGGTGCTGGGCTGTGCCCGGCGGCAGCAGCAAGCGTGGCCCTCATGTCACCATGGTCTTCCCGGATGCTGGCACCTTCTCCATCCGGCTCAATGCCTCCAACGCAGTCAGCTGGGTCTCAGCCACGTACAACCTCACGGCGGAGGAGCCCATCGTGGGCCTGGTGCTGTGGGCCAGCAGCAAGGTGGTGGCGCCCGGGCAGCTGGTCCATTTTCAGATCCTGCTGGCTGCCGGCTCAGCTGTCACCTTCCGCCTGCAGGTCGGCGGGGCCAACCCCGAGGTGCTCCCCGGGCCCCGTTTCTCCCACAGCTTCCCCCGCGTCGGAGACCACGTGGTGAGCGTGCGGGGCAAAAACCACGTGAGCTGGGCCCAGGCGCAGGTGCGCATCGTGGTGCTGGAGGCCGTGAGTGGGCTGCAGGTGCCCAACTGCTGCGAGCCTGGCATCGCCACGGGCACTGAGAGGAACTTCACAGCCCGCGTGCAGCGCGGCTCTCGGGTCGCCTACGCCTGGTACTTCTCGCTGCAGAAGGTCCAGGGCGACTCGCTGGTCATCCTGTCGGGCCGCGACGTCACCTACACGCCCGTGGCCGCGGGGCTGTTGGAGATCCAGGTGCGCGCCTTCAACGCCCTGGGCAGTGAGAACCGCACGCTGGTGCTGGAGGTTCAGGACGCCGTCCAGTATGTGGCCCTGCAGAGCGGCCCCTGCTTCACCAACCGCTCGGCGCAGTTTGAGGCCGCCACCAGCCCCAGCCCCCGGCGTGTGGCCTACCACTGGGACTTTGGGGATGGGTCGCCAGGGCAGGACACAGATGAGCCCAGGGCCGAGCACTCCTACCTGAGGCCTGGGGACTACCGCGTGCAGGTGAACGCCTCCAACCTGGTGAGCTTCTTCGTGGCGCAGGCCACGGTGACCGTCCAGGTGCTGGCCTGCCGGGAGCCGGAGGTGGACGTGGTCCTGCCCCTGCAGGTGCTGATGCGGCGATCACAGCGCAACTACTTGGAGGCCCACGTTGACCTGCGCGACTGCGTCACCTACCAGACTGAGTACCGCTGGGAGGTGTATCGCACCGCCAGCTGCCAGCGGCCGGGGCGCCCAGCGCGTGTGGCCCTGCCCGGCGTGGACGTGAGCCGGCCTCGGCTGGTGCTGCCGCGGCTGGCGCTGCCTGTGGGGCACTACTGCTTTGTGTTTGTCGTGTCATTTGGGGACACGCCACTGACACAGAGCATCCAGGCCAATGTGACGGTGGCCCCCGAGCGCCTGGTGCCCATCATTGAGGGTGGCTCATACCGCGTGTGGTCAGACACACGGGACCTGGTGCTGGATGGGAGCGAGTCCTACGACCCCAACCTGGAGGACGGCGACCAGACGCCGCTCAGTTTCCACTGGGCCTGTGTGGCTTCGACACAG___AGGGAGGCTGGCGGGTGTGCGCTGAACTTTGGGCCCCGCGGGAGCAGCACGGTCACCATTCCACGGGAGCGGCTGGCGGCTGGCGTGGAGTACACCTTCAGCCTGACCGTGTGGAAGGCCGGCCGCAAGGAGGAGGCCACCAACCAGACG___GTGCTGATCCGGAGTGGCCGGGTGCCCATTGTGTCCTTGGAGTGTGTGTCCTGCAAGGCACAGGCCGTGTACGAAGTGAGCCGCAGCTCCTACGTGTACTTGGAGGGCCGCTGCCTCAATTGCAGCAGCGGCTCCAAGCGAGGG___CGGTGGGCTGCACGTACGTTCAGCAACAAGACGCTGGTGCTGGATGAGACCACCACATCCACGGGCAGTGCAGGCATGCGACTGGTGCTGCGGCGGGGCGTGCTGCGGGACGGCGAGGGATACACCTTCACGCTCACGGTGCTGGGCCGCTCTGGCGAGGAGGAGGGCTGCGCCTCCATCCGCCTGTCCCCCAACCGCCCGCCGCTGGGGGGCTCTTGCCGCCTCTTCCCACTGGGCGCTGTGCACGCCCTCACCACCAAGGTGCACTTCGAATGCACGG___GCTGGCATGACGCGGAGGATGCTGGCGCCCCGCTGGTGTACGCCCTGCTGCTGCGGCGCTGTCGCCAGGGCCACTGCGAGGAGTTCTGTGTCTACAAGGGCAGCCTCTCCAGCTACGGAGCCGTGCTGCCCCCGGGTTTCAGGCCACACTTCGAGGTGGGCCTGGCCGTGGTGGTGCAGGACCAGCTGGGAGCCGCTGTGGTCGCCCTCAACAG___GTCTTTGGCCATCACCCTCCCAGAGCCCAACGGCAGCGCAACGGGGCTCACAGTCTGGCTGCACGGGCTCACCGCTAGTGTGCTCCCAGGGCTGCTGCGGCAGGCCGATCCCCAGCACGTCATCGAGTACTCGTTGGCCCTGGTCACCGTGCTGAACGAG___TACGAGCGGGCCCTGGACGTGGCGGCAGAGCCCAAGCACGAGCGGCAGCACCGAGCCCAGATACGCAAGAACATCACGGAGACTCTGGTGTCCCTGAGGGTCCACACTGTGGATGACATCCAGCAGATCGCTGCTGCGCTGGCCCAGTGCATG___GGGCCCAGCAGGGAGCTCGTATGCCGCTCGTGCCTGAAGCAGACGCTGCACAAGCTGGAGGCCATGATGCTCATCCTGCAGGCAGAGACCACCGCGGGCACCGTGACGCCCACCGCCATCGGAGACAGCATCCTCAACATCACAG___GAGACCTCATCCACCTGGCCAGCTCGGACGTGCGGGCACCACAGCCCTCAGAGCTGGGAGCCGAGTCACCATCTCGGATGGTGGCGTCCCAGGCCTACAACCTGACCTCTGCCCTCATGCGCATCCTCATGCGCTCCCGCGTGCTCAACGAGGAGCCCCTGACGCTGGCGGGCGAGGAGATCGTGGCCCAGGGCAAGCGCTCGGACCCGCGGAGCCTGCTGTGCTATGGCGGCGCCCCAGGGCCTGGCTGCCACTTCTCCATCCCCGAGGCTTTCAGCGGGGCCCTGGCCAACCTCAGTGACGTGGTGCAGCTCATCTTTCTGGTGGACTCCAATCCCTTTCCCTTTGGCTATATCAGCAACTACACCGTCTCCACCAAGGTGGCCTCGATGGCATTCCAGACACAGGCCGGCGCCCAGATCCCCATCGAGCGGCTGGCCTCAGAGCGCGCCATCACCGTGAAGGTGCCCAACAACTCGGACTGGGCTGCCCGGGGCCACCGCAGCTCCGCCAACTCCGCCAACTCCGTTGTGGTCCAGCCCCAGGCCTCCGTCGGTGCTGTGGTCACCCTGGACAGCAGCAACCCTGCGGCCGGGCTGCATCTGCAGCTCAACTATACGCTGCTGGACG___GCCACTACCTGTCTGAGGAACCTGAGCCCTACCTGGCAGTCTACCTACACTCGGAGCCCCGGCCCAATGAGCACAACTGCTCGGCTAGCAGGAGGATCCGCCCAGAGTCACTCCAGGGTGCTGACCACCGGCCCTACACCTTCTTCATTTCCCCGGG___GAGCAGAGACCCAGCGGGGAGTTACCATCTGAACCTCTCCAGCCACTTCCGCTGGTCGGCGCTGCAGGTGTCCGTGGGCCTGTACACGTCCCTGTGCCAGTACTTCAGCGAGGAGGACATGGTGTGGCGGACAGAGGGGCTGCTGCCCCTGGAGGAGACCTCGCCCCGCCAGGCCGTCTGCCTCACCCGCCACCTCACCGCCTTCGGCGCCAGCCTCTTCGTGCCCCCAAGCCATGTCCGCTTTGTGTTTCCT___GAGCCGACAGCGGATGTAAACTACATCGTCATGCTGACATGTGCTGTGTGCCTGGTGACCTACATGGTCATGGCCGCCATCCTGCACAAGCTGGACCAGTTGGATGCCAGCCGGGGCCGCGCCATCCCTTTCTGTGGGCAGCGGGGCCGCTTCAAGTACGAGATCCTCGTCAAGACAGGCTGGGGCCGGGGCTCAG___GTACCACGGCCCACGTGGGCATCATGCTGTATGGGGTGGACAGCCGGAGCGGCCACCGGCACCTGGACGGCGACAGAGCCTTCCACCGCAACAGCCTGGACATCTTCCGGATCGCCACCCCGCACAGCCTGGGTAGCGTGTGGAAGATCCGAGTGTGGCACGACAACAAAG___GGCTCAGCCCTGCCTGGTTCCTGCAGCACGTCATCGTCAGGGACCTGCAGACGGCACGCAGCGCCTTCTTCCTGGTCAATGACTGGCTTTCGGTGGAGACGGAGGCCAACGGGGGCCTGGTGGAGAAGGAGGTGCTGGCCGCGA___GCGACGCAGCCCTTTTGCGCTTCCGGCGCCTGCTGGTGGCTGAGCTGCAGCGTGGCTTCTTTGACAAGCACATCTGGCTCTCCATATGGGACCGGCCGCCTCGTAGCCGTTTCACTCGCATCCAGAGGGCCACCTGCTGCGTTCTCCTCATCTGCCTCTTCCTGGGCGCCAACGCCGTGTGGTACGGGGCTGTTGGCGACTCTGCCTACAG___CACGGGGCATGTGTCCAGGCTGAGCCCGCTGAGCGTCGACACAGTCGCTGTTGGCCTGGTGTCCAGCGTGGTTGTCTATCCCGTCTACCTGGCCATCCTTTTTCTCTTCCGGATGTCCCGGAGCAAG___GTGGCTGGGAGCCCGAGCCCCACACCTGCCGGGCAGCAGGTGCTGGACATCGACAGCTGCCTGGACTCGTCCGTGCTGGACAGCTCCTTCCTCACGTTCTCAGGCCTCCACGCTGAG___CAGGCCTTTGTTGGACAGATGAAGAGTGA)CTTGTTTCTGGATGATTCTAAGAG|TGACCTTGAGGAACCCTGGGAGCTCAGGAAGGAAGGAGCGCCCAGAAGCAGGGACAGGGAGCTGGTTGGGGAGGACCAGAAATCAG___GTTATCAATACTCTGGCTGACCATCGTCATCG(TGAGACTGACTTTGGTGGAAGTCCTTGGATAATTATCATTATTGTGTTTCTGGGACGTTACAAATTTACCATTCTCTTCTGCACAATTTACCTTTGT___GTGCCTTTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATAGATCCAGGGATGTACAGCAGAGAGCTAGGAGGTCCAACCGCCGTAGACAGGAAG___GAATTAAAATTGGCCTGGAAGACATCTGTACTTTATGGAAACAGGCGGAAACAAAAGTTCAAGCTAAAATCCGTAAGATGAAGGTCACAAAGAAAGTCAACCATCATTACAAAATCAATGGAAAGAGGAAGACCGCCAAAGAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGTGGCGGGCAGAGGACTACCACAAATGCAAA___ATCACCCCCTCTGCAAGAAAGCCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCGCCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAATGTCTTCTTATTCCCCTTCCACCCTCTCCTCTTCCACCCTCCGTGGATGATAATCTCAAGACTCCTCCCTTAGCTACTCAGGAGGCCGAGGCAGAAAAATCACTGAAACCCAAGAGGCAGAGGTTGAGTAAGCTGAGAACAGGTCATTGCACTCAAGCCTGGGCAATAAGAAGAAATCTGTGAGTGGAACAAAAGAAAAAAATCAAAAAACAAAACAAA)$ MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKs|dleepwelrkegaprsrdrelvgedqksgyqysg* 22BR005 ENSG00000161914.10 ENSG00000181143.15(21045),ENSG00000267332.1(16957) -/- ./+ chr19:11495950 chr19:9002387 CDS/splice-site intergenic inversion 0 2 0 1 2 medium out-of-frame . . . . ENSG00000161914.10 . ENST00000293771.10 . upstream upstream . ^(ACTTCCGGTCTGGCTCCTAACAACGGGGGAGGCTGGTAACCAGGGTGGGGGGGATGGCGGAGCGGGCGCTAGAGCCCGAGGCGGAGGCGGAGGCTGAGGCGGGCGCGGGCGGGGAGGCAGCAGCCGAGGAGGGCGCAGCGGGCCGAAAGGCGCGGGGCCGGCCGCGACTCACGGAGTCGGACCGGGCCCGGCGACGGCTCGAGTCCCGGAAGAAGTACGACGTGCGGCGCGTGTACCTGGGCGAGGCGCACGGGCCCTGGGTGGACCTGCGGCGCCGCAGCGGCTGGAGCGACGCCAAGCTCGCCGCCTACCTCATCTCTCTGGAGCGCGGCCAGCGGAGCGGCCGCCACGG___GAAGCCTTGGGAGCAGGTCCCCAAAAAGCCAAAGCGGAAGAAAA___GGCGGCGACGCAACGTGAACTGCCTGAAGAACGTGGTGATCTGGTACGAGGACCACAAGCACCGCTGCCCGTACGAGCCGCACCTGGCGGAGCTAGACCCCACTTTTGGCCTGTACACCACGGCCGTGTGGC)AGTGCGAAGCTGGCCACCGCTACTTCCAGGACCTGCATTCGCCCCTGAAGCCCCTCAGCGACTCAGACCCTGACAGTGACAAAG|GTTGAGAAAGGAGGGGATGTCTCCTCTCCTGGGAAGAGTGACGACATCTCTAGAAGCCAGGCATGAAAGAAGAGAATGAAAACTCCATCCGGTGTGGATTGAGGCAGAGAC MAERALEPEAEAEAEAGAGGEAAAEEGAAGRKARGRPRLTESDRARRRLESRKKYDVRRVYLGEAHGPWVDLRRRSGWSDAKLAAYLISLERGQRSGRHGKPWEQVPKKPKRKKRRRRNVNCLKNVVIWYEDHKHRCPYEPHLAELDPTFGLYTTAVWQCEAGHRYFQDLHSPLKPLSDSDPDSDK|g* 22BR005 ENSG00000008710.20 ENSG00000226232.8 -/- -/- chr16:2097728 chr16:69990682 CDS/splice-site intron duplication 0 2 0 7 37 medium out-of-frame . Lectin_C-type_domain(100%),Leucine_rich_repeat(100%),PKD_domain(100%),PLAT/LH2_domain(100%),REJ_domain(100%),WSC_domain(100%)| . . ENSG00000008710.20 ENSG00000226232.8 ENST00000262304.9 ENST00000532298.5 upstream downstream . ^(GCACTGCAGCGCCAGCGTCCGAGCGGGCGGCCGAGCTCCCGGAGCGGCCTGGCCCCGAGCCCCGAGCGGGCGTCGCTCAGCAGCAGGTCGCGGCCGCAGCCCCATCCAGCCCCGCGCCCGCCATGCCGTCCGCGGGCCCCGCCTGAGCTGCGGCCTCCGCGCGCGGGCGGGCCTGGGGACGGCGGGGCCATGCGCGCGCTGCCCTAACGATGCCGCCCGCCGCGCCCGCCCGCCTGGCGCTGGCCCTGGGCCTGGGCCTGTGGCTCGGGGCGCTGGCGGGGGGCCCCGGGCGCGGCTGCGGGCCCTGCGAGCCCCCCTGCCTCTGCGGCCCAGCGCCCGGCGCCGCCTGCCGCGTCAACTGCTCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCT___AGACGTCTCCCACAACCTGCTCCGGGCGCTGGACGTTGGGCTCCTGGCGAACCTCTCGGCGCTGGCAGAGCT___GGATATAAGCAACAACAAGATTTCTACGTTAGAAGAAGGAATATTTGCTAATTTATTTAATTTAAGTGAAAT___AAACCTGAGTGGGAACCCGTTTGAGTGTGACTGTGGCCTGGCGTGGCTGCCGCGATGGGCGGAGGAGCAGCAGGTGCGGGTGGTGCAGCCCGAGGCAGCCACGTGTGCTGGGCCTGGCTCCCTGGCTGGCCAGCCTCTGCTTGGCATCCCCTTGCTGGACAGTGGCTGTG___GTGAGGAGTATGTCGCCTGCCTCCCTGACAACAGCTCAGGCACCGTGGCAGCAGTGTCCTTTTCAGCTGCCCACGAAGGCCTGCTTCAGCCAGAGGCCTGCAGCGCCTTCTGCTTCTCCACCGGCCAGGGCCTCGCAGCCCTCTCGGAGCAGGGCTGGTGCCTGTGTGGGGCGGCCCAGCCCTCCAGTGCCTCCTTTGCCTGCCTGTCCCTCTGCTCCGGCCCCCCGCCACCTCCTGCCCCCACCTGTAGGGGCCCCACCCTCCTCCAGCACGTCTTCCCTGCCTCCCCAGGGGCCACCCTGGTGGGGCCCCACGGACCTCTGGCCTCTGGCCAGCTAGCAGCCTTCCACATCGCTGCCCCGCTCCCTGTCACTGCCACACGCTGGGACTTCGGAGACGGCTCCGCCGAGGTGGATGCCGCTGGGCCGGCTGCCTCGCATCGCTATGTGCTGCCTGGGCGCTATCACGTGACGGCCGTGCTGGCCCTGGGGGCCGGCTCAGCCCTGCTGGGGACAGACGTGCAGGTGGAAGCGGCACCTGCCGCCCTGGAGCTCGTGTGCCCGTCCTCGGTGCAGAGTGACGAGAGCCTCGACCTCAGCATCCAGAACCGCGGTGGTTCAGGCCTGGAGGCCGCCTACAGCATCGTGGCCCTGGGCGAGGAGCCGGCCCGAG___CGGTGCACCCGCTCTGCCCCTCGGACACGGAGATCTTCCCTGGCAACGGGCACTGCTACCGCCTGGTGGTGGAGAAGGCGGCCTGGCTGCAGGCGCAGGAGCAGTGTCAGGCCTGGGCCGGGGCCGCCCTGGCAATGGTGGACAGTCCCGCCGTGCAGCGCTTCCTGGTCTCCCGGGTCACCAG___GAGCCTAGACGTGTGGATCGGCTTCTCGACTGTGCAGGGGGTGGAGGTGGGCCCAGCGCCGCAGGGCGAGGCCTTCAGCCTGGAGAGCTGCCAGAACTGGCTGCCCGGGGAGCCACACCCAGCCACAGCCGAGCACTGCGTCCGGCTCGGGCCCACCGGGTGGTGTAACACCGACCTGTGCTCAGCGCCGCACAGCTACGTCTGCGAGCTGCAGCCCGGAG___GCCCAGTGCAGGATGCCGAGAACCTCCTCGTGGGAGCGCCCAGTGGGGACCTGCAGGGACCCCTGACGCCTCTGGCACAGCAGGACGGCCTCTCAGCCCCGCACGAGCCCGTGGAG___GTCATGGTATTCCCGGGCCTGCGTCTGAGCCGTGAAGCCTTCCTCACCACGGCCGAATTTGGGACCCAGGAGCTCCGGCGGCCCGCCCAGCTGCGGCTGCAGGTGTACCGGCTCCTCAGCACAGCAG___GGACCCCGGAGAACGGCAGCGAGCCTGAGAGCAGGTCCCCGGACAACAGGACCCAGCTGGCCCCCGCGTGCATGCCAGGGGGACGCTGGTGCCCTGGAGCCAACATCTGCTTGCCGCTGGACGCCTCCTGCCACCCCCAGGCCTGCGCCAATGGCTGCACGTCAGGGCCAGGGCTACCCGGGGCCCCCTATGCGCTATGGAGAGAGTTCCTCTTCTCCGTTCCCGCGGGGCCCCCCGCGCAGTACTCG___GTCACCCTCCACGGCCAGGATGTCCTCATGCTCCCTGGTGACCTCGTTGGCTTGCAGCACGACGCTGGCCCTGGCGCCCTCCTGCACTGCTCGCCGGCTCCCGGCCACCCTGGTCCCCGGGCCCCGTACCTCTCCGCCAACGCCTCGTCATGGCTGCCCCACTTGCCAGCCCAGCTGGAGGGCACTTGGGCCTGCCCTGCCTGTGCCCTGCGGCTGCTTGCAGCCACGGAACAGCTCACCGTGCTGCTGGGCTTGAGGCCCAACCCTGGACTGCGGCTGCCTGGGCGCTATGAGGTCCGGGCAGAGGTGGGCAATGGCGTGTCCAGGCACAACCTCTCCTGCAGCTTTGACGTGGTCTCCCCAGTGGCTGGGCTGCGGGTCATCTACCCTGCCCCCCGCGACGGCCGCCTCTACGTGCCCACCAACGGCTCAGCCTTGGTGCTCCAGGTGGACTCTGGTGCCAACGCCACGGCCACGGCTCGCTGGCCTGGGGGCAGTGTCAGCGCCCGCTTTGAGAATGTCTGCCCTGCCCTGGTGGCCACCTTCGTGCCCGGCTGCCCCTGGGAGACCAACGATACCCTGTTCTCAGTGGTAGCACTGCCGTGGCTCAGTGAGGGGGAGCACGTGGTGGACGTGGTGGTGGAAAACAGCGCCAGCCGGGCCAACCTCAGCCTGCGGGTGACGGCGGAGGAGCCCATCTGTGGCCTCCGCGCCACGCCCAGCCCCGAGGCCCGTGTACTGCAGGGAGTCCTAGTG___AGGTACAGCCCCGTGGTGGAGGCCGGCTCGGACATGGTCTTCCGGTGGACCATCAACGACAAGCAGTCCCTGACCTTCCAGAACGTGGTCTTCAATGTCATTTATCAGAGCGCGGCGGTCTTCAAGCTCTCA___CTGACGGCCTCCAACCACGTGAGCAACGTCACCGTGAACTACAACGTAACCGTGGAGCGGATGAACAGGATGCAGGGTCTGCAGGTCTCCACAGTGCCGGCCGTGCTGTCCCCCAATGCCACGCTAGCACTGACGGCGGGCGTGCTGGTGGACTCGGCCGTGGAGGTGGCCTTCCT___GTGGACCTTTGGGGATGGGGAGCAGGCCCTCCACCAGTTCCAGCCTCCGTACAACGAGTCCTTCCCGGTTCCAGACCCCTCGGTGGCCCAGGTGCTGGTGGAGCACAATGTCATGCACACCTACGCTGCCCCAG___GTGAGTACCTCCTGACCGTGCTGGCATCTAATGCCTTCGAGAACCTGACGCAGCAGGTGCCTGTGAGCGTGCGCGCCTCCCTGCCCTCCGTGGCTGTGGGTGTGAGTGACGGCGTCCTGGTGGCCGGCCGGCCCGTCACCTTCTACCCGCACCCGCTGCCCTCGCCTGGGGGTGTTCTTTACACGTGGGACTTCGGGGACGGCTCCCCTGTCCTGACCCAGAGCCAGCCGGCTGCCAACCACACCTATGCCTCGAGGGGCACCTACCACGTGCGCCTGGAGGTCAACAACACGGTGAGCGGTGCGGCGGCCCAGGCGGATGTGCGCGTCTTTGAGGAGCTCCGCGGACTCAGCGTGGACATGAGCCTGGCCGTGGAGCAGGGCGCCCCCGTGGTGGTCAGCGCCGCGGTGCAGACGGGCGACAACATCACGTGGACCTTCGACATGGGGGACGGCACCGTGCTGTCGGGCCCGGAGGCAACAGTGGAGCATGTGTACCTGCGGGCACAGAACTGCACAGTGACCGTGGGTGCGGCCAGCCCCGCCGGCCACCTGGCCCGGAGCCTGCACGTGCTGGTCTTCGTCCTGGAGGTGCTGCGCGTTGAACCCGCCGCCTGCATCCCCACGCAGCCTGACGCGCGGCTCACGGCCTACGTCACCGGGAACCCGGCCCACTACCTCTTCGACTGGACCTTCGGGGATGGCTCCTCCAACACGACCGTGCGGGGGTGCCCGACGGTGACACACAACTTCACGCGGAGCGGCACGTTCCCCCTGGCGCTGGTGCTGTCCAGCCGCGTGAACAGGGCGCATTACTTCACCAGCATCTGCGTGGAGCCAGAGGTGGGCAACGTCACCCTGCAGCCAGAGAGGCAGTTTGTGCAGCTCGGGGACGAGGCCTGGCTGGTGGCATGTGCCTGGCCCCCGTTCCCCTACCGCTACACCTGGGACTTTGGCACCGAGGAAGCCGCCCCCACCCGTGCCAGGGGCCCTGAGGTGACGTTCATCTACCGAGACCCAGGCTCCTATCTTGTGACAGTCACCGCGTCCAACAACATCTCTGCTGCCAATGACTCAGCCCTGGTGGAGGTGCAGGAGCCCGTGCTGGTCACCAGCATCAAGGTCAATGGCTCCCTTGGGCTGGAGCTGCAGCAGCCGTACCTGTTCTCTGCTGTGGGCCGTGGGCGCCCCGCCAGCTACCTGTGGGATCTGGGGGACGGTGGGTGGCTCGAGGGTCCGGAGGTCACCCACGCTTACAACAGCACAGGTGACTTCACCGTTAGGGTGGCCGGCTGGAATGAGGTGAGCCGCAGCGAGGCCTGGCTCAATGTGACGGTGAAGCGGCGCGTGCGGGGGCTCGTCGTCAATGCAAGCCGCACGGTGGTGCCCCTGAATGGGAGCGTGAGCTTCAGCACGTCGCTGGAGGCCGGCAGTGATGTGCGCTATTCCTGGGTGCTCTGTGACCGCTGCACGCCCATCCCTGGGGGTCCTACCATCTCTTACACCTTCCGCTCCGTGGGCACCTTCAATATCATCGTCACGGCTGAGAACGAGGTGGGCTCCGCCCAGGACAGCATCTTCGTCTATGTCCTGCAGCTCATAGAGGGGCTGCAGGTGGTGGGCGGTGGCCGCTACTTCCCCACCAACCACACGGTACAGCTGCAGGCCGTGGTTAGGGATGGCACCAACGTCTCCTACAGCTGGACTGCCTGGAGGGACAGGGGCCCGGCCCTGGCCGGCAGCGGCAAAGGCTTCTCGCTCACCGTGCTCGAGGCCGGCACCTACCATGTGCAGCTGCGGGCCACCAACATGCTGGGCAGCGCCTGGGCCGACTGCACCATGGACTTCGTGGAGCCTGTGGGGTGGCTGATGGTGGCCGCCTCCCCGAACCCAGCTGCCGTCAACACAAGCGTCACCCTCAGTGCCGAGCTGGCTGGTGGCAGTGGTGTCGTATACACTTGGTCCTTGGAGGAGGGGCTGAGCTGGGAGACCTCCGAGCCATTTACCACCCATAGCTTCCCCACACCCGGCCTGCACTTGGTCACCATGACGGCAGGGAACCCGCTGGGCTCAGCCAACGCCACCGTGGAAGTGGATGTGCAGGTGCCTGTGAGTGGCCTCAGCATCAGGGCCAGCGAGCCCGGAGGCAGCTTCGTGGCGGCCGGGTCCTCTGTGCCCTTTTGGGGGCAGCTGGCCACGGGCACCAATGTGAGCTGGTGCTGGGCTGTGCCCGGCGGCAGCAGCAAGCGTGGCCCTCATGTCACCATGGTCTTCCCGGATGCTGGCACCTTCTCCATCCGGCTCAATGCCTCCAACGCAGTCAGCTGGGTCTCAGCCACGTACAACCTCACGGCGGAGGAGCCCATCGTGGGCCTGGTGCTGTGGGCCAGCAGCAAGGTGGTGGCGCCCGGGCAGCTGGTCCATTTTCAGATCCTGCTGGCTGCCGGCTCAGCTGTCACCTTCCGCCTGCAGGTCGGCGGGGCCAACCCCGAGGTGCTCCCCGGGCCCCGTTTCTCCCACAGCTTCCCCCGCGTCGGAGACCACGTGGTGAGCGTGCGGGGCAAAAACCACGTGAGCTGGGCCCAGGCGCAGGTGCGCATCGTGGTGCTGGAGGCCGTGAGTGGGCTGCAGGTGCCCAACTGCTGCGAGCCTGGCATCGCCACGGGCACTGAGAGGAACTTCACAGCCCGCGTGCAGCGCGGCTCTCGGGTCGCCTACGCCTGGTACTTCTCGCTGCAGAAGGTCCAGGGCGACTCGCTGGTCATCCTGTCGGGCCGCGACGTCACCTACACGCCCGTGGCCGCGGGGCTGTTGGAGATCCAGGTGCGCGCCTTCAACGCCCTGGGCAGTGAGAACCGCACGCTGGTGCTGGAGGTTCAGGACGCCGTCCAGTATGTGGCCCTGCAGAGCGGCCCCTGCTTCACCAACCGCTCGGCGCAGTTTGAGGCCGCCACCAGCCCCAGCCCCCGGCGTGTGGCCTACCACTGGGACTTTGGGGATGGGTCGCCAGGGCAGGACACAGATGAGCCCAGGGCCGAGCACTCCTACCTGAGGCCTGGGGACTACCGCGTGCAGGTGAACGCCTCCAACCTGGTGAGCTTCTTCGTGGCGCAGGCCACGGTGACCGTCCAGGTGCTGGCCTGCCGGGAGCCGGAGGTGGACGTGGTCCTGCCCCTGCAGGTGCTGATGCGGCGATCACAGCGCAACTACTTGGAGGCCCACGTTGACCTGCGCGACTGCGTCACCTACCAGACTGAGTACCGCTGGGAGGTGTATCGCACCGCCAGCTGCCAGCGGCCGGGGCGCCCAGCGCGTGTGGCCCTGCCCGGCGTGGACGTGAGCCGGCCTCGGCTGGTGCTGCCGCGGCTGGCGCTGCCTGTGGGGCACTACTGCTTTGTGTTTGTCGTGTCATTTGGGGACACGCCACTGACACAGAGCATCCAGGCCAATGTGACGGTGGCCCCCGAGCGCCTGGTGCCCATCATTGAGGGTGGCTCATACCGCGTGTGGTCAGACACACGGGACCTGGTGCTGGATGGGAGCGAGTCCTACGACCCCAACCTGGAGGACGGCGACCAGACGCCGCTCAGTTTCCACTGGGCCTGTGTGGCTTCGACACAG___AGGGAGGCTGGCGGGTGTGCGCTGAACTTTGGGCCCCGCGGGAGCAGCACGGTCACCATTCCACGGGAGCGGCTGGCGGCTGGCGTGGAGTACACCTTCAGCCTGACCGTGTGGAAGGCCGGCCGCAAGGAGGAGGCCACCAACCAGACG___GTGCTGATCCGGAGTGGCCGGGTGCCCATTGTGTCCTTGGAGTGTGTGTCCTGCAAGGCACAGGCCGTGTACGAAGTGAGCCGCAGCTCCTACGTGTACTTGGAGGGCCGCTGCCTCAATTGCAGCAGCGGCTCCAAGCGAGGG___CGGTGGGCTGCACGTACGTTCAGCAACAAGACGCTGGTGCTGGATGAGACCACCACATCCACGGGCAGTGCAGGCATGCGACTGGTGCTGCGGCGGGGCGTGCTGCGGGACGGCGAGGGATACACCTTCACGCTCACGGTGCTGGGCCGCTCTGGCGAGGAGGAGGGCTGCGCCTCCATCCGCCTGTCCCCCAACCGCCCGCCGCTGGGGGGCTCTTGCCGCCTCTTCCCACTGGGCGCTGTGCACGCCCTCACCACCAAGGTGCACTTCGAATGCACGG___GCTGGCATGACGCGGAGGATGCTGGCGCCCCGCTGGTGTACGCCCTGCTGCTGCGGCGCTGTCGCCAGGGCCACTGCGAGGAGTTCTGTGTCTACAAGGGCAGCCTCTCCAGCTACGGAGCCGTGCTGCCCCCGGGTTTCAGGCCACACTTCGAGGTGGGCCTGGCCGTGGTGGTGCAGGACCAGCTGGGAGCCGCTGTGGTCGCCCTCAACAG___GTCTTTGGCCATCACCCTCCCAGAGCCCAACGGCAGCGCAACGGGGCTCACAGTCTGGCTGCACGGGCTCACCGCTAGTGTGCTCCCAGGGCTGCTGCGGCAGGCCGATCCCCAGCACGTCATCGAGTACTCGTTGGCCCTGGTCACCGTGCTGAACGAG___TACGAGCGGGCCCTGGACGTGGCGGCAGAGCCCAAGCACGAGCGGCAGCACCGAGCCCAGATACGCAAGAACATCACGGAGACTCTGGTGTCCCTGAGGGTCCACACTGTGGATGACATCCAGCAGATCGCTGCTGCGCTGGCCCAGTGCATG___GGGCCCAGCAGGGAGCTCGTATGCCGCTCGTGCCTGAAGCAGACGCTGCACAAGCTGGAGGCCATGATGCTCATCCTGCAGGCAGAGACCACCGCGGGCACCGTGACGCCCACCGCCATCGGAGACAGCATCCTCAACATCACAG___GAGACCTCATCCACCTGGCCAGCTCGGACGTGCGGGCACCACAGCCCTCAGAGCTGGGAGCCGAGTCACCATCTCGGATGGTGGCGTCCCAGGCCTACAACCTGACCTCTGCCCTCATGCGCATCCTCATGCGCTCCCGCGTGCTCAACGAGGAGCCCCTGACGCTGGCGGGCGAGGAGATCGTGGCCCAGGGCAAGCGCTCGGACCCGCGGAGCCTGCTGTGCTATGGCGGCGCCCCAGGGCCTGGCTGCCACTTCTCCATCCCCGAGGCTTTCAGCGGGGCCCTGGCCAACCTCAGTGACGTGGTGCAGCTCATCTTTCTGGTGGACTCCAATCCCTTTCCCTTTGGCTATATCAGCAACTACACCGTCTCCACCAAGGTGGCCTCGATGGCATTCCAGACACAGGCCGGCGCCCAGATCCCCATCGAGCGGCTGGCCTCAGAGCGCGCCATCACCGTGAAGGTGCCCAACAACTCGGACTGGGCTGCCCGGGGCCACCGCAGCTCCGCCAACTCCGCCAACTCCGTTGTGGTCCAGCCCCAGGCCTCCGTCGGTGCTGTGGTCACCCTGGACAGCAGCAACCCTGCGGCCGGGCTGCATCTGCAGCTCAACTATACGCTGCTGGACG___GCCACTACCTGTCTGAGGAACCTGAGCCCTACCTGGCAGTCTACCTACACTCGGAGCCCCGGCCCAATGAGCACAACTGCTCGGCTAGCAGGAGGATCCGCCCAGAGTCACTCCAGGGTGCTGACCACCGGCCCTACACCTTCTTCATTTCCCCGGG___GAGCAGAGACCCAGCGGGGAGTTACCATCTGAACCTCTCCAGCCACTTCCGCTGGTCGGCGCTGCAGGTGTCCGTGGGCCTGTACACGTCCCTGTGCCAGTACTTCAGCGAGGAGGACATGGTGTGGCGGACAGAGGGGCTGCTGCCCCTGGAGGAGACCTCGCCCCGCCAGGCCGTCTGCCTCACCCGCCACCTCACCGCCTTCGGCGCCAGCCTCTTCGTGCCCCCAAGCCATGTCCGCTTTGTGTTTCCT___GAGCCGACAGCGGATGTAAACTACATCGTCATGCTGACATGTGCTGTGTGCCTGGTGACCTACATGGTCATGGCCGCCATCCTGCACAAGCTGGACCAGTTGGATGCCAGCCGGGGCCGCGCCATCCCTTTCTGTGGGCAGCGGGGCCGCTTCAAGTACGAGATCCTCGTCAAGACAGGCTGGGGCCGGGGCTCAG___GTACCACGGCCCACGTGGGCATCATGCTGTATGGGGTGGACAGCCGGAGCGGCCACCGGCACCTGGACGGCGACAGAGCCTTCCACCGCAACAGCCTGGACATCTTCCGGATCGCCACCCCGCACAGCCTGGGTAGCGTGTGGAAGATCCGAGTGTGGCACGACAACAAAG___GGCTCAGCCCTGCCTGGTTCCTGCAGCACGTCATCGTCAGGGACCTGCAGACGGCACGCAGCGCCTTCTTCCTGGTCAATGACTGGCTTTCGGTGGAGACGGAGGCCAACGGGGGCCTGGTGGAGAAGGAGGTGCTGGCCGCGA___GCGACGCAGCCCTTTTGCGCTTCCGGCGCCTGCTGGTGGCTGAGCTGCAGCGTGGCTTCTTTGACAAGCACATCTGGCTCTCCATATGGGACCGGCCGCCTCGTAGCCGTTTCACTCGCATCCAGAGGGCCACCTGCTGCGTTCTCCTCATCTGCCTCTTCCTGGGCGCCAACGCCGTGTGGTACGGGGCTGTTGGCGACTCTGCCTACAG___CACGGGGCATGTGTCCAGGCTGAGCCCGCTGAGCGTCGACACAGTCGCTGTTGGCCTGGTGTCCAGCGTGGTTGTCTATCCCGTCTACCTGGCCATCCTTTTTCTCTTCCGGATGTCCCGGAGCAAG___GTGGCTGGGAGCCCGAGCCCCACACCTGCCGGGCAGCAGGTGCTGGACATCGACAGCTGCCTGGACTCGTCCGTGCTGGACAGCTCCTTCCTCACGTTCTCAGGCCTCCACGCTGAG___CAGGCCTTTGTTGGACAGATGAAGAGTGA)CTTGTTTCTGGATGATTCTAAGAG|TGACCTTGAGGAACCCTGGGAGCTCAGGAAGGAAGGAGCGCCCAGAAGCAGGGACAGGGAGCTGGTTGGGGAGGACCAGAAATCAG___GTTATCAATACTCTGGCTGACCATCGTCATCG(TGAGACTGACTTTGGTGGAAGTCCTTGGATAATTATCATTATTGTGTTTCTGGGACGTTACAAATTTACCATTCTCTTCTGCACAATTTACCTTTGT___GTGCCTTTCCTGAAGACTATCTTCTGGTCTCGAAATGGACATGATAGATCCAGGGATGTACAGCAGAGAGCTAGGAGGTCCAACCGCCGTAGACAGGAAG___GGCTGAGGTCCATTTGTATGCACACAAAGAAAAGAGTTTCTTCCTTTCCAGGAATTAAAATTGGCCTGGAAGACATCTGTACTTTATGGAAACAGGCGGAAACAAAAGTTCAAGCTAAAATCCGTAAGATGAAGGTCACAAAGAAAGTCAACCATCATTACAAAATCAATGGAAAGAGGAAGACCGCCAAAGAACA___GAAAATGTTTCAACGTGCGCAAGAGTTGCGGTGGCGGGCAGAGGACTACCACAAATGCAAA___ATCACCCCCTCTGCAAGAAAGCCTCTTTGCAACTGG___GTCAGAATGGCGGCAGCGGAGCATCGTCATTCTTCAGGATTGCCCTACTGGCCCTACCTCACAGCTGAAACTTTAAAAAACAGGATGGGCCGCCAGCCACCTCCTCCAACTCAACAACATTCTATAACTGATAACTCCCTGAGCCTCAAGACACCTCCCGAATGTCTTCTTATTCCCCTTCCACCCTCTCCTCTTCCACCCTCCGTGGATGATAATCTCAAGACTCCTCCCTTAGCTACTCAGGAGGCCGAGGCAGAAAAATCACTGAAACCCAAGAGGCAGAGGTTGAGTAAGCTGAGAACAGGTCATTGCACTCAAGCCTGGGCAATAAGAAGAAATCTGTGA)$ MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKs|dleepwelrkegaprsrdrelvgedqksgyqysg* 22BR005 ENSG00000132749.11 ENSG00000280093.1(248504),ENSG00000255332.8(162526) -/- ./+ chr11:68747208 chr11:91631793 CDS/splice-site intergenic inversion 1 1 0 133 8 medium out-of-frame . . . . ENSG00000132749.11 . ENST00000255087.10 . upstream upstream . ^(ACCCTTCCCCCTTCTCCAACCGCCAACGGCCGCCTGCGCCTGAGGCCCGGCCCACGCCCCATCCCGCTCGCTCCACGCTGCGGCAGCCCCGGCGGCCCCAG___GTGCGCGGCCCCCGCCATCCCGCCCCGCCGCCCTGCGCCATGGAGGAGGGCCCTCTGCCGGGCGGGCTGCCCAGCCCCGAGGATGCGATGGTGACGGAGCTCTTAAGCCCCGAGGGTCCGTTCGCTTCGGAGAACATCGGCCTGAAGGCCCCCGTGAAGTACGAGGAGGACGAGTTCCACGTCTTCAAAGAAGCGTACCTGGGCCCGGCGGACCCCAAGGAACCCGTCCTGCACGCGTTCAACCCCGCGCTGGGCGCCGACTGCAAGGGCCAGGTCAAGGCGAAGCTCGCGGGGGGCGACAGCGACGGCGGGGAGCTCCTCGGGGAGTACCCCGGGATCCCAGAGCTCAGCGCGCTGGAGGACGTCGCGCTCCTGCAGGCCCCGCAGCCGCCCGCCTGCAACGTGCACTTCCTGTCCTCGCTGCTACCCGCGCACCGCAGCCCGGCGGTGTTGCCCCTGGGCGCCTGGGTCCTGGAAGGAGCCTCCCACCCGGGCGTCCGCATGATCCCA___GTTGAAATCAAGGAAGCAG)GTGGTACTACTACAAGTAATAATCCGGAAGAAGCAACTTTGCAGAATCTTCTTGCTCAGGAATCCTGTTGCAAGTTCCCATCGTCCCAGGAACTAGAGGATGCCTCCTGCTGTTCTCTTAAGAAAGATTCCAACCCAATG|GCCAGTGTTTGGAAGAAAAGACACTGAGGAGAGAAGTATGCCACAAGGATGAGCAGAAGCAGGCCCCGCATCATCTCAGCTCCCAGAGCATGAGTGGGAGAGAAAAAGGAGAAAGCCG MEEGPLPGGLPSPEDAMVTELLSPEGPFASENIGLKAPVKYEEDEFHVFKEAYLGPADPKEPVLHAFNPALGADCKGQVKAKLAGGDSDGGELLGEYPGIPELSALEDVALLQAPQPPACNVHFLSSLLPAHRSPAVLPLGAWVLEGASHPGVRMIPVEIKEAGGTTTSNNPEEATLQNLLAQESCCKFPSSQELEDASCCSLKKDSNPM|asvwkkrh* 22BR005 ENSG00000267477.1 ENSG00000181143.15(21045),ENSG00000267332.1(16957) -/- ./+ chr19:11495950 chr19:9002387 CDS/splice-site intergenic inversion 0 2 0 1 2 medium . . . . . ENSG00000267477.1 . ENST00000585656.1 . upstream upstream . ^(GCCGAAAGGCGCGGGGCCGGCCGCGACTCACGGAGTCGGACCGGGCCCGGCGACGGCTCGAGTCCCGGAAGAAGTACGACGTGCGGCGCGTGTACCTGGGCGAGGCGCACGGGCCCTGGGTGGACCTGCGGCGCCGCAGCGGCTGGAGCGACGCCAAGCTCGCCGCCTACCTCATCTCTCTGGAGCGCGGCCAGCGGAGCGGCCGCCACGG___GAAGCCTTGGGAGCAGGTCCCCAAAAAGCCAAAGCGGAAGAAAA___GGCGGCGACGCAACGTGAACTGCCTGAAGAACGTGGTGATCTGGTACGAGGACCACAAGCACCGCTGCCCGTACGAGCCGCACCTGGCGGAGCTAGACCCCACTTTTGGCCTGTACACCACGGCCGTGTGGC)AGTGCGAAGCTGGCCACCGCTACTTCCAGGACCTGCATTCGCCCCTGAAGCCCCTCAGCGACTCAGACCCTGACAGTGACAAAG|GTTGAGAAAGGAGGGGATGTCTCCTCTCCTGGGAAGAGTGACGACATCTCTAGAAGCCAGGCATGAAAGAAGAGAATGAAAACTCCATCCGGTGTGGATTGAGGCAGAGAC . 22BR006 ENSG00000226969.1(9521),ENSG00000067606.17(13871) ENSG00000067606.17 ./+ +/+ chr1:2059591 chr1:2135262 intergenic 5'UTR/splice-site deletion/read-through 11 15 1 29 26 high . . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . . ENSG00000067606.17 . ENST00000400921.6 downstream upstream mismappers(1),mismatches(1) CCGCCTCAAGGCGCATTACGGGGG___GGACATCTTCATCACCAGCGTGGACGCCGCCACGACCTTCGAGGAGCTCTGTGAGGAAGTGAGAGACATGTGTCGTCTGCACCAGCAGCACCCGCTCACCCTCAAGTGGGTGGACAGCGAAG___GTGACCCTTGCACGGTGTCCTCCCAGATGGAGCTGGAAGAGGCTTTCCGCCTGGCCCGTCAGTGCAGGGAcGAAGGCCTCATCATTCATG___TTTTCCCGAGCACCCCTGAGCAGCCTGGCCTGCCATGTCCGGGAGAAGACA|AATCTATCTACCGCCGGGGAGCCAGAAGATGGAGGAAGCTGTACCGTGCCAACGGCCACCTCTTCCAAGCCAAGCGCTTTAACAGG___AGAGCGTACTGCGGTCAGTGCAGCGAGAGGATATGGGGCCTCGCGAGGCAAGGCTACAGGTGCATCAACTGCAAACTGCTGGTCCATAAGCGCTGCCACGGCCTCGTCCCGCTGACCTGCAGGAAGCATATG___GATTCTGTCATGCCTTCCCAAGAGCCTCCAGTAGACGAC(AAGAACGAGGACGCCGACCTTCCTTCCGAGGAGACAGATGGAA___TTGCTTACATTTCCTCATCCCGGAAGCATGACAGCATTAAAGACGACTCGGAG___GACCTTAAGCCAGTTATCGATGGGATGGATGGAATCAAAATCTCTCAGGGGCTTGGGCTGCAGGACTTTGACCTAATCAGAGTCATCGGGCGCGGGAGCTACGCCAAGGTTCTCCTGGTGCGGTTGAAGAAGAATGACCAAATTTACGCCATGAAAGTGGTGAAGAAAGAGCTGGTGCATGATGACGAG___GATATTGACTGGGTACAGACAGAGAAGCACGTGTTTGAGCAGGCATCCAGCAACCCCTTCCTGGTCGGATTACACTCCTGCTTCCAGACGACAAGTCG___GTTGTTCCTGGTCATTGAGTACGTCAACGGCGGGGACCTGATGTTCCACATGCAGAGGCAGAGGAAGCTCCCTGAGGAGCACGCCAG___GTTCTACGCGGCCGAGATCTGCATCGCCCTCAACTTCCTGCACGAGAGGGGGATCATCTACAGGGACCTGAAGCTGGACAACGTCCTCCTGGATGCGGACGGGCACATCAAGCTCACAGACTACGGCATGTGCAAG___GAAGGCCTGGGCCCTGGTGACACAACGAGCACTTTCTGCGGAACCCCGAATTACATCGCCCCCGAAATCCTGCGGGGAGAGGAGTACG___GGTTCAGCGTGGACTGGTGGGCGCTGGGAGTCCTCATGTTTGAGATGATGGCCGGGCGCTCCCCGTTCGACATCATCACCGACAACCCGGACATGAACACAGAGGACTACCTTTTCCAAG___TGATCCTGGAGAAGCCCATCCGGATCCCCCGGTTCCTGTCCGTCAAAGCCTCCCATGTTTTAAAAGGATTTTTAAATAAG___GACCCCAAAGAGAGGCTCGGCTGCCGGCCACAGACTGGATTTTCTGACATCAAGTCCCACGCGTTCTTCCGCAGCATAGACTGGGACTTG___CTGGAGAAGAAGCAGGCGCTCCCTCCATTCCAGCCACAGATCACAGACGACTACGGTCTGGACAACTTTGACACACAGTTCACCAGCGAGCCCGTGCAGCTGACCCCAGACGATGA___GGATGCCATAAAGAGGATCGACCAGTCAGAGTTCGAAGGCTTTGAGTATATCAACCCATTATTGCTGTCCACCGAGGAGTCGGTGTGAGGCCGCGTGCGTCTCTGTCGTGGACACGCGTGATTGACCCTTTAACTGTATCCTTAACCACCGCATATGCATGCCAGGCTGGGCACGGCTCCGAGGGCGGCCAGGGACAGACGCTTGCGCCGAGACCGCAGAGGGAAGCGTCAGCGGGCGCTGCTGGGAGCAGAACAGTCCCTCACACCTGGGCCCGGGCAGGCCAGCTTCGTGCTGGAGGAACTTGCTGCTGTGCCTGCGTCGCGGCGGATCCGCGGGGACCCTGCCGAGGGGGCTGTCATGCGGTTTCCAAGGTGCACATTTTCCACGGAAACAGAACTCGATGCACTGACCTGCTCCGCCAGGAAAGTGAGCGTGTAGCGTCCTGAGGAATAAAATGTTCCGATGATG)$ . 22BR006 ENSG00000120690.16(41522),ENSG00000120688.9(671) ENSG00000120690.16 ./- -/- chr13:41060838 chr13:40982282 intergenic 5'UTR/splice-site deletion/read-through 3 17 0 22 79 high . . |Ets-domain(100%),Transcription_factor_protein_N_terminal(100%) . . . ENSG00000120690.16 . ENST00000239882.7 upstream downstream duplicates(1),mismappers(1) GGCGGCGGCaGCaGCAGCAGCAGCTTCAGTAGCGCAGAGGCGGCGGTGGCGAGAGGTGCGGCGAAGGAGGCAGAGGCACTTATGCTTGTCAG|GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAG___CTTGGTGATCCAGCTATTTTTCCTGCCGTAATTGTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGC(CTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAAGAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAG___TTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTCCTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAA___ATAATAATATATTTAGTTCACCTGAAGATGACATGGTTGTTGCCCCAGTCACCCATGTGTCCGTCACATTAGATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCGGGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAG___GAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAAAACAAAGATGGAAAGG___GAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAGAAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAG___GTACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCAAGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGAGGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACGCAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAAACATTAAATTCTTCCGTTCAGAGTATTAG___GACTATACAGGCTCCAACCCAAGTTCCAGTGGTTGTGTCTCCTAGGAATCAGCAGTTGCATACAGTAACACTCCAAACAGTGCCACTCACAACAGTTATAGCCAGCACAGATCCATCAGCAGGTACTGGATCTCAGAAGTTTATTTTACAAGCCATTCCATCATCACAGCCCATGACAGTACTGAAAGAAAATGTCATGCTGCAGTCACAAAAGGCGGGCTCTCCTCCTTCAATTGTCTTGGGCCCTGCCCAGGTTCAGCAGGTCCTTACTAGCAATGTTCAGACCATTTGCAATGGAACCGTCAGTGTGGCTTCCTCTCCATCCTTCAGTGCTACTGCACCTGTGGTGACCTTTTCTCCTCGCAGTTCACAGCTGGTTGCTCACCCACCTGGCACTGTAATCACTTCAGTTATCAAAACTCAAGAAACAAAAACTCTTACACAGGAAGTAGAGAAAAAGGAATCTGAAGATCATTTGAAAGAGAACACTGAGAAAACGGAGCAGCAGCCACAGCCTTATGTGATGGTAGTGTCCAGTTCCAATGGATTTACTTCTCAGGTAGCTATGAAACAAAACGAACTGCTGGAACCCAACTCTTTTTAGTTAATATACCAAAGCTTATGAATAATTGTTTGTTAATTGAACATTTTCAATTATATGCAGACTGACTGATTCTAAGATAAATTCTAAGGAGGTTTCTAATTTTGTAATTGTTAAAAATAGAGTTAATTTTGACTTTGTTAGATGAGGGAGGAAAACTCAACTGTTTCTCTTTGTTATCTAAATGTTTCAGAATTCAATCGTGAAGGAACAGGCATTTTACACTATGAAGACATTCTTTTGAGATTTTTATTTCAGTTGCTATATCATAAGCATTTTTAAAGTTTCTTTTCTAATTTTACATTGTATTAGATTTTCTGATTCTTTTGTAAATACAGAACTTAAATAGAAGGCAACAGGAAATTTATATAGGAACTATTTTCATTCCACTTGTGTAAGTTAAGTCTTGACTCTTTCAAATGCAAAAAACCTATTTTATGCTTTGTTAAAATTATGGTGTCACTTAGATTGACTTTAGTTGACTGCACTATATAATATAGAACTATGAATATGTAGAATAACATGAAAAATTGGAGGTGCTGGTGGTATGGCTGACCCTGTTTCAGAAGCAGGATAGTATAAAAGCATCAGCCTAAGAATGGCACTCCCACTAACTAGCTATGTAATCTTGACCTCTTTGGGCTTTAGTTCCTCTCATAAAAGGAAGAGATGTATTGGATTAGACTAGATGATCACCACTTTCTCTTCTAGTTCTAATTTTTTTAATTCTAATACCTATATTTTCAAGTTATGTCAATTAAATCATTATCAGGTTATTTCCTAATGTAAGAATAGCTAAAATGTTGCAGAGAAATAAGTGACCCAACAAAATTTATTCATCTGTTATGGGTAAGATCTGCCATAAATTCTTCCTAAATAATTTGTTTACTAACTCTTTAGGCCACTGTGCTTTGCGGTCCATTAGTAAACTTGTGTTGCTAAGTGCTAAACAGAATACTGCTATTTTGAGAGAGTCAAGACTCTTTCTTAAGGGCCAAGAAAGCAACTTGAGCCTTGGGCTAATCTGGCTGAGTAGTCAGTTATAAAAGCATAATTGCTTTATATTTTGGATCATTTTTTACTGGGGGCGGACTTGGGGGGGGTTGCATACAAAGATAACATATATATCCAACTTTCTGAAATGAAATGTTTTTAGATTACTTTTTCAACTGTAAATAATGTACATTTAATGTCACAAGAAAAAAATGTCTTCTGCAAATTTTCTAGTATAACAGAAATTTTTGTAGATGAAAAAAATCATTATGTTTAGAGGTCTAATGCTATGTTTTCATATTACAGAGTGAATTTGTATTTAAACAAAAATTTAAATTTTGGAATCCTCTAAACATTTTTGTATCTTTAATTGGTTTATTATTAAATAAATCATATAAAAATTCTCAGTGTCTGTTTTCAGGCAAAAGTTTCTTAAAGAATAAGTGTGCAGAGAATATTACTAGAACATCAGCATTACTTAATGTTTATAAATAAATTTCATTAGTCAGAA)$ . 22BR006 ENSG00000113924.12 ENSG00000153767.10 -/+ +/+ chr3:120675939 chr3:120750523 intron 5'UTR/splice-site deletion/read-through/3'-3' 8 11 0 40 35 high . . |C-terminal_general_transcription_factor_TFIIE_alpha(100%),TFIIB_zinc-binding(100%),TFIIE_alpha_subunit(100%) . . ENSG00000113924.12 ENSG00000153767.10 . ENST00000283875.6 downstream upstream duplicates(2),mismappers(1),mismatches(1) GGAaTCAGAGCTCTTCTAAGCACTTTATTTGCTCATACCTGTCCTTCTGGCAGGGAACCTGGGCAGCGAGGATCCTCTGAAGAACACTCATTCCCAAATCCAGAAATGTACTGTAGGTGACAAAGACACAAATGCCACCATTAGCAGGATTTAAAGAGCATTTCAGAAAATTGGCAGTTTACTAAG|TATATTTAAAGTTGGAGTTCGTTGCTAAAGATGGCAGACCCAGATGTCCTCACTGAAGTTCCAGCAGCATTGAAGCGGTTAGCCAAGTATGTGATCCGGGGATTTTATGGCATTGAGCATGCCTTGGCCTTGGACATCTTGATCAGGAACTCCTGTGTGAAAGAGGAGGATATGCTGGAGCTGCTCAAGTTTGATCGGAAGCAACTTCGATCAGTTTTGAATAATTTAAAGGG(AGACAAGTTTATCAAATGCAGAATGAGGGTAGAGACTGCTGCAGACGGGAAAACCACTCGCCATAACTACTACTTCATCAATTATCGTACTCTTGTTAATGTGGTAAAATATAAACTGGACCACATGAGAAGAAGAATTGAGACCGATGAGAGAGATTCGACCAACCGGGCTTCCTTCAAATGTCCTGTCTGTAGTAGTACTTTCACAGACTTAGAAGCTAATCAGCTCTTTGATCCTATGACAG___GAACTTTCCGCTGTACTTTTTGCCATACAGAGGTAGAAGAGGATGAATCAGCAATGCCCAAAAAAGATGCACGCACACTTTTGGCAAGGTTTAATGAACAAATTGAGCCCATTTATGCATTGCTTCGGGAGACAGAGGATGTGAACTTGGCCTATGAAATACTTGAGCCAGAACCCACAGAAATCCCAGCCCTGAAACAGAG___CAAGGACCATGCAGCAACTACTGCTGGAGCTGCTAGCCTAGCAGGTGGGCACCACCGGGAAGCATGGGCCACCAAAGGTCCTTCCTATGAAGACTTATACACTCAGAATGTTGTCATTAACATGGATGACCAAGAAGATCTTCATCGAGCCTCACTGGAAGGGAAATCTGCCAAAGAGAGGCCTATTTGGTTGAGAGAAAGCACTGTCCAAGGGGCATATGGTTCTGAAGATATGAAAGAAG___GGGGCATAGATATGGACGCATTTCAGGAGCGTGAGGAAGGCCATGCTGGGCCTGATGACAACGAAGAGGTCATGCGAGCACTGCTCATTCACGAGAAAAAGACTTCCTCTGCCATGGCTGGTTCAGTGGGGGCAGCTGCTCCAGTGACCGCTGCCAATGGCAGTGACTCAGAAAGCGAGACCAGTGAGTCAGATGATGATTCTCCACCCCGTCCGGCAGCTGTGGCTGTGCATAAACGAGAAGAGGATGAAGAGGAAGATGACGAGTTTGAAGAAGTAGCAGATGACCCCATTGTCATGGTGGCTGGCCGTCCGTTCTCCTACAGTGAAGTGAGCCAACGGCCAGAGCTAGTGGCCCAGATGACACCAGAAGAAAAGGAAGCATATATAGCAATGGGACAACGCATGTTTGAGGACCTCTTTGAGTGAGCTTTCCCTAATTCTTTCTCCTTTCTCTAATGCTCAGTTCAAAAAGGAATGTCTCATCTTTGAAGAAAAGTATTTAAGTGGCTTTCTGCCCCTCTTGATGTAAGCAACTGTCCATCCTTGTGCAAAGATTGATGGTAGAGAGTTTGACTTTTATGCCAGAAACTTTCCCAGCAAGGTAGGGTGCTGAGAATCCTACCCTTCCTTGCTGTCACTACAGTATTAATATTTTACTGTATTTTCTTTTCTTTTTTTTTTTTTTTTGGAGATGAAGTCTCACTCTTGTACCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTAGCCAGGATGATCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGTATTTTCTTATCTGATTTTTTTCTTGCCTTATTAAGACATAATTTTCTCCCTTCTGAAATGAGTGAGGGAAGTTCATAAGGTAAATCCTTCCCATCCATCTGTTTACTACAATAGGTTACAATAATTCACTGATCACATCCATTTTATCTGTTCTAGCCAGGCATTCCAAACAATTTCTTATACTGCTGCCCACCAAAGCAGCTTGCCAACAGTCAAATCACTGATTGGGGGAAAAAATCCTGAAATTTTGCTTAGAATTTGAGCATTTCCTCAAAATTGAGATGGATCAATATGTAAGGGGAGGTGGGAGCGTGTGTGGAAGGGGGAGAGATATACTTGAGTCTTATGATTAATGTCTAAACCAGAATTTGTGTCTTTAGAACTGACCAGACTGGTAGATTTTATTGTATTGCTTAATGTCTTTTGGTTTGGATTTAGGATGATAGAAAACAGAAGTATAATTGGTAAACCCTTAGGAAGAAATTAGAAAAACATGGACGTAAGACAAGAAGTCTCTGTGAAGGGTTGAAGAGTGACAAGCATTGGTAACAGTGCCTTAGAACTGTGTCAGTTAGTCTGATTTGGAAATCCTTTATGTAAAGCTGAGACTGGTCCTGGTTTTGTTCCCTTTGGGTACAGACCTCTTGTCAGTGCTATAAATTGTTTAATGAGGCCATTCCAGCAGAAATCAACAGAATAATTGATTACTCTTCTCTCTCTCTGTCACTCTCCCTCTTTCTAAACATCATTGAAGGCTGTCTCTCTTTTAATTTTTGTCAGACACAGTATTTTAGGGTGCATCCAGTATACCATTGAGCATTGTAACCTCAGGAAACAGTTTATTTTGGGTTCTGATATGTAGCATGGTATTTTCCCTAAGGCAGAACTTTAAAAATAAAGAACTTTCACACAAGGGTCTGTAACAATTGTATATCTTACAATATTTTTCCTTGCATTGTAATTTTTAAGTATTTATCATTTTATAGTACACATGTAAAGAATATATGAGCCTTGTATGGAGTGATGTTTCATTTACCTGGGTTGTGTTAATGACTGAATGTTGACAATAAATCTGTTTTATACTGA)$ . 22BR006 ENSG00000121390.19 ENSG00000226352.2(1939),ENSG00000121390.19(24677) -/- ./- chr13:19730239 chr13:19677823 CDS/splice-site intergenic deletion/read-through 12 5 0 113 41 high out-of-frame . NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000121390.19 . ENST00000338910.9 . upstream downstream duplicates(1) ^(GCCATTTTGAATGTGCAGCTGCAGCGGGCGTGAGTTGGGGGAGGACGGGTTGCCGACTCGCCTACCTAGCGGTCTCTTGATTGTCGATATTTTGTTGGCATAGGTTTATGTAGAGACGTATACATATATATAGACACACTGTCTATAAATCTAGGCCTGTATCCGGTGTCCGAGGCGAACTCAGTAAGATGATGTTAAGAGGAAACCTGAAGCAAGTGCGCATTGAGAAAAACCCGGCCCGCCTTCGCGCCCTGGAGTCCGCGGTGGGCGAGAGCGAGCCGGCGGCCGCGGCAGCCATGGCGCTCGCTCTTGCCGGGGAGCCGGCACCGCCCGCGCCCGCGCCTCCAGAGGACCACCCGGACGAGGAGATGGGGTTCACTATCGACATCAAGAGTTTCCTCAAGCCGGGCGAGAAGACGTACACGCAGCGCTGCCGCCTCTTCGTGGGAAATCTGCCCACCGACATCACGGAGGAGGACTTCAAGAGGCTCTTCGAACGCTATGGCGAGCCCAGCGAAGTCTTCATCAACCGGGACCGTGGCTTCGGCTTCATCCGCTTG___GAATCCAGAACCCTGGCTGAAATTGCAAAAGCAGAGCTGGACGGCACCATTCTCAAGAGCAGACCTCTACGGATTCGCTTCGCTACACATGGAGCAGCCTTGACTGTCAAGAACCTTTCTCCAGTTGTTTCCAATGAGCTGCTAGAGCAAGCATTTTCTCAGTTTGGTCCAGTAGAGAAAGCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC___GACCCCTCGTCCAGTCATTGTGGAACCCATGGAGCAGTTTGATGATGAAGATGGCTTGCCAGAGAAGCTGATGCAGAAAACTCAACAATATCATAA___GGAAAGAGAACAACCACCACGTTTTGCTCAACCTGGGACATTTGAATTTGAGTATGCATCT)CGATGGAAGGCTCTTGATGAAATGGAAAAGCAGCAGCGTGAGCAGGTTGATAGAAACATCAGAGAAGCCAAAGAGAAACTGGAGGCAGAAATGGAAGCAGCTAGGCATGAACACCAATTAATGCTAATGAGGCAAG___ATCTAATGAGGCGTCAAGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG___ACATGAAGAGGAGCATCGGCGGCGTGAGGAAGAAATGATCCGACACAGAGAACAGGAGGAACTGAGGCGACAGCAAGAGGGCTTTAAGCCAAACTACATGGAAAAT|GGTGATAAAAGAAAATGTGGCTGAAGTTACCCGAAGTTCAGCTTGCAGTGTAATTCAGAAGAGTTAAGACCAGAAGTACTGGAATCATACTTCCTTTCAGGTCAGTCC MMLRGNLKQVRIEKNPARLRALESAVGESEPAAAAAMALALAGEPAPPAPAPPEDHPDEEMGFTIDIKSFLKPGEKTYTQRCRLFVGNLPTDITEEDFKRLFERYGEPSEVFINRDRGFGFIRLESRTLAEIAKAELDGTILKSRPLRIRFATHGAALTVKNLSPVVSNELLEQAFSQFGPVEKAVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTTTPRPVIVEPMEQFDDEDGLPEKLMQKTQQYHKEREQPPRFAQPGTFEFEYASRWKALDEMEKQQREQVDRNIREAKEKLEAEMEAARHEHQLMLMRQDLMRRQEELRRLEELRNQELQKRKQIQLRHEEEHRRREEEMIRHREQEELRRQQEGFKPNYMEN|gdkrkcg* 22BR006 ENSG00000161551.14 ENSG00000283236.1 -/- -/- chr19:51877282 chr19:51860978 CDS/splice-site exon deletion/read-through 8 7 1 62 26 high out-of-frame . KRAB_box(100%)| . . ENSG00000161551.14 ENSG00000283236.1 ENST00000301399.11 ENST00000588129.6 upstream downstream . ^(GAAACTTGCGAGTGTCGCGTCTGCAGTGTGTGGGGTTCGCGGGGCGGCGGGTAGAG___TTGAGCATTTTTGTCATCTGCAAATAATTTTAGCCAGGTGGCAAGTGTATGGACTGTGGAGTAAGAAGTACCTGCCTCTGCCTCTGACTTGG___GTTCTGGCCTATAGGAACAAGACATTTTCAGTAATGGAAGAAGGAGCTTCCAGGCTGGGGAAGATCATCATTTCCAGTGGTAGCTTGACCTGAGATGATACCTGACCACCACTTCTGGGAAGGCCCAGAATAGACAGAAGAGAGAGAACATACTAGAGTTGCTAGCCCCTAAGAGTTGAACGAAATGGGCAAGGCCCAG___CTGAAATAACAGGAAACACATGAAAAATGCCACGATTGTAATGTCTGTGAGGAGAGAGCAAGGCAGTTCTTCAGGGGAG___GGGTCATTGTCATTCGAAGATGTGGCTGTGGGCTTCACCAGGGAGGAGTGGCAGTTTTTGGACCAGTCTCAGAAGGTCTTGTACAAGGAAGTAATGTTGGAGAACTACATCAACCTAGTATCAATAG___)GGTATCGAGGCACCAAGCCAGATTCGCTCTTCAAGTTGGAGCAAGGAGAACCCCCAGGGATAG?AGAAGGAGCAGCCCACAGTCAAATCTGTCCAG|GGTATTCATTCAGGAGAAGGACCCTACAGATGGAGGGAATGCAGGAAAGCTAAGAAGAATCACACCTCATTGCAG MKNATIVMSVRREQGSSSGEGSLSFEDVAVGFTREEWQFLDQSQKVLYKEVMLENYINLVSIGYRGTKPDSLFKLEQGEPPGI?EGAAHSQICP|gysfrrrtlqmegmqes* 22BR006 ENSG00000238116.2(1013),ENSG00000275320.1(11792) ENSG00000164754.15 ./+ -/- chrX:100804073 chr8:116846471 intergenic 3'UTR translocation 5 3 0 26 372 medium . . . . . . ENSG00000164754.15 . ENST00000297338.7 downstream downstream duplicates(2),mismappers(1) TGTAAGTTTTAGTACTGATCTCCTTTTCCAGTGCTGCACACTCCTGTGTTTGGAACTTTAATAGCaTTGCAACGAAATCCTATATCC|AGTTTCCTGTAATTTAATTGAAGAAAAATACATCCAAATAAAGACTTTATTATTAACAGACCAGATAGCATCAGAAATCATGTGACTGTTATGATTATCAGA[at]ATGTCTTAACTTTTTAGGGCAAAGTTAACACTGAAAGTTCTAGCTTAAGTGTTGAAACTTTTGTGG(GAAAAAAAAATCACTTTTGAAACTCAGACTTCAGTGTATACCCAATAATTTAAAATTATGTGAAATGTTTTAAATTTGTGAACTCGTAATTACTGTTTTAATGATTCAGTTTCTTCAGAGTGGTAATTGTATAAAATTGCTATTGCAGCTTTACATTCAATATGATGTGCCTGTAAACCAAGGAGTTTTCCCCGTTTGTAAAAAGACATTGTAGATAATTGAATGTTTGATTTTAGAAAGGTCATTAGTTTCTTGTTACACATTTTGTTAGTCTGGTTTTTGTTGCTTATCGGGTTTAATATTGTTCTTGAAAATAGTTGATGCTATGTTATGTATAACTTTTCTAATAAAAGTTGTGTTATAAGCTGTA)$ . 22BR006 ENSG00000061676.15 ENSG00000287621.1 -/- +/- chr2:182989030 chr2:183417076 CDS/splice-site intron duplication/5'-5' 2 0 1 328 0 medium out-of-frame . . . . ENSG00000061676.15 ENSG00000287621.1 ENST00000361354.9 . upstream downstream . ^(CTCAGCCGCCGGAGACGCCGCCGCCGCCGCCGCCGCCGCCACACCTAGTGGAGCAGCCGGGGAAGGCGGCTCGTTGGGGGCTGGGGCGGAGAGCGCCGGGGGTGGGGGCGGAAGGGCGGCGGGCGGAAGGCAGGAGGCTGCCGGGGCGCGGGCTGCTGCGGGAGAAGGGGCTCCGAGGAGTCCGCCGCGGCTCGCTCTGTCGCCGGCGCGGGATTGGGGCGCGAGGGCCATGGGCGCGCTCTCCTAAGGCGGAGGTCGCGGGCGGGAGGGGAGGAGGCCCGAGAGAGGCTGCTGCGAAGGCCGCGGGCCCGTGACTGGGCGCGAGGCGGCCGGCGGCGGCGGCGGCACCAGCACCACCATGTCGCGCTCAGTGCTGCAGCCCAGTCAGCAGAAGCTGGCGGAGAAGCTCACCATCCTCAACGACCGGGGCGTCGGCATGCTCACCCGCCTCTACAACATCAAGAAG___GCATGTGGAGACCCCAAGGCAAAACCATCCTATCTTATCGACAAAAACCTGGAATCTGCTGTGAAATTCATAGTCAGAAAATTCCCTGCTGTAGAAACCCGCAACAACAAT___CAACAGCTTGCACAACTACAGAAAGAAAAATCAGAGATTCTGAAAAATCTGGCATTATATTACTTCACATTTGTAGATGTTATGGAATTTAAG___GACCATGTTTGTGAATTGCTGAATACTATTGACGTTTGCCAAGTCTTCTTTGATATT___ACTGTAAACTTTGATTTAACAAAGAACTACTTAGATTTAATTATAACCTATACAACACTAATGATACTGCTGTCTCGAATTGAAGAAAGGAAGGCAATCATTGGATTATACAACTATGCCCATGAAATGACTCATGGAGCAAG___TGACAGAGAATACCCACGCCTTGGCCAGATGATTGTGGATTATGAAAACCCTTTAAAGAAGATGATGGAAGAATTTGTACCCCATAGCAAG___TCTCTTTCAGATGCACTAATTTCTCTTCAAATGGTATATCCTCGAAGGAATCTTTCAGCTGACCAGTGGAGAAATGCCCAGTTATTGAGCCTCATCAGTGCACCTAGTACAATGCTTAATCCAGCACAGTCCGACACT___ATGCCTTGTGAATACCTCTCTTTGGATGCAATGGAAAAGT)GGATTATCT___TTGGCTTTATTTTGTGCCATGGGATCCTAAATACTGACGCTACAGCACTGAACCTTTGGAAACTAGCTCTTCAAAGTAGCTCTTGCCTCTCTCTCTTTCGGGATGAAGTTTTCCACATTCACAAAGCTGCAGAAGACTTATTTGTAAACATACGAGG|AGATGCCCTGCCCAGTGAAGAGGAATCTAGAGAGGCAGTCTGACCACAGCTGCTTTGCTGCACTGTGTTGAGTTCCACCCAGTCTGAACTTCCAGGCCTTTGTCATGCTGTCGG MSRSVLQPSQQKLAEKLTILNDRGVGMLTRLYNIKKACGDPKAKPSYLIDKNLESAVKFIVRKFPAVETRNNNQQLAQLQKEKSEILKNLALYYFTFVDVMEFKDHVCELLNTIDVCQVFFDITVNFDLTKNYLDLIITYTTLMILLSRIEERKAIIGLYNYAHEMTHGASDREYPRLGQMIVDYENPLKKMMEEFVPHSKSLSDALISLQMVYPRRNLSADQWRNAQLLSLISAPSTMLNPAQSDTMPCEYLSLDAMEKWIIFGFILCHGILNTDATALNLWKLALQSSSCLSLFRDEVFHIHKAAEDLFVNIRg|dalpseeesreav* 22BR006 ENSG00000196834.12 ENSG00000286058.1 -/- -/- chr2:130461145 chr2:130047379 3'UTR exon/splice-site deletion 3 0 0 94 372 medium stop-codon . Actin(100%),Ankyrin_repeats_(3_copies)(100%),CCDC144C_protein_coiled-coil_region(100%)| . . ENSG00000196834.12 ENSG00000286058.1 ENST00000451531.6 ENST00000325390.7 upstream downstream . ^(TAACTGCTTGGCTGGCCTGTAGCGGCTTGGCTTGGCTTTGCGTTCTTTGCTTGGCTTGGTGTTGGTCGCTTGGCCTGGTGTTCCTCCTTGGATTGACGTTTCCTCCTTGGATTGGCGTTTCCTCTCTCGCGTTCCCTTGCTAGGCTTGACCTTTTCTCTGCTGGGTTTGGCATTCCCTTGGGTGGGCTGGGTGTTTTCTTGGGGGGGGGGGTTGGCCCTTCCTCGGGTGGGCGTGGGCTTTCCCCGGGTGGGTGTGGGTTTTCCCTGGGTGGGGTGGGTTGGGCTTACCTGCTGGGGTTGGCAGGTTTTGGCTGGGATTGACTTTTCTCTTCAAACAGATTGGAAACCCGGAGTTACCTGCTAGTTGGTGAAACTGGTTGGTAGACGTGATCTGCTCGCTACTACCGGCCTCCCCAGGCTGTTAAAAGCAGATGGTAGCTGAGGTTGATTCAATGCCGGCTGCCTCTTCTGTGAAGAAGCCATTTGTTCTCAGGAGCAAGATGGGCAAGTGGTGCCGCCACTGCTTCCCCTGCTGCAGGGGGAGCGGCAAGAGCAACGTGGGCACTTCTGGAGACCAGGACGACTCCACTATGAAGACACTCAGGAGCAAGATGGGCAAGTGGTGCTGCCACTGCTTCCCCTGCTGCAGGGGGAGTGGCAAGAGCAACGTGGGCACTTCTGGAGACCACGACGACTCCGCTATGAAGACGCTCAGGAGCAAGATGGGCAAGTGGTGCTGCCACTGCTTCCCCTGCTGCAGGGGGAGCGGCAAGAGCAACGTGGGTGCTTGGGGAGACTACGACGACAGCGCCTTCGTGGAGCCGAGATACCACGTCCGTCGAGAAGATCTGGACAAGCTCCACAGAGCTGCCTGGTGGGGTAAAGTCGCCAGAAAGGATCTGATCGTCATGCTCAGGGACACTGACGTGAACAAGCAGGACAAGCAAAAGAG___GACTGCTCTACATCTGGCCTCTGCCAATGGGAATTCAGGAGTAGTAAAACTCCTGCTGGACAGACGATGTCAACTTAATGTCCTTGACAACAAAAAGAGGACAGCTCTGACAAAG___GCCGTACAATGCCAGGAAGATGAATGTGCGTTAATGTTGCTGGAACATGGCACTGATCCAAACATTCCAGATGAGTATGGAAATACCACTCTACACTACGCTATCTACAATGAAGATAAATTAATGGCCAAAGCACTGCTCTTATACGGTGCTGATATCGAATCAAAAAACAAG___CATGGCCTCACACCACTGCTACTTGGTGTACATGAGCAAAAACAGCAAGTGGTGAAATTTTTAATCAAGAAAAAAGCGAATTTAAATGCGCTGGATAGATATGGAAG___AACTGCTCTCATACTTGCTGTATGTTGTGGATCAGCAAGTATAGTCAGCCTTCTACTTGAGCAAAATATTGATGTATCTTCTCAAGATCTATCTGGACAGACGGCCAGAGAGTATGCTGTTTCTAGTCATCATCATGT___AATTTGCCAGTTACTTTCTGACTACAAAGAAAAACAGATGCTAAAAATCTCTTCTGAAAACAGCAATCCAG___AACAAGACTTAAAGCTGACATCAGAGGAAGAGTCACAAAGGTTCAAAGGCAGTGAAAATAGCCAGCCAGAG___AAAATGTCTCAAGAACCAGAAATAAATAAGGATGGTGATAGAGAG___GTTGAAGAAGAAATGAAGAAGCATGAAAGTAATAATGTGGGATTACTAGAAAACCTGAGTAATGGTGTCACTGCTGGCAATGGTGATGATGGATTAATTCCTCAAAGGAAGAGCAGAACACCTGAAAATCAGCAATTTCCTGACAACGAAAGTGAAGAGTATCACAG___AATTTGCGAATTAGTTTCTGACTACAAAGAAAAACAGATGCCAAAATACTCTTCTGAAAACAGCAACCCAG___AACAAGACTTAAAGCTGACATCAGAGGAAGAGTCACAAAGGCTTAAAGGCAGTGAAAATGGCCAGCCAGAG___AAAAGATCTCAAGAACCAGAAATAAATAAGGATGGTGATAGAGAG___CTAGAAAATTTTATGGCTATCGAAGAAATGAAGAAGCACGGAAGTACTCACGTCGGATTCCCAGAAAACCTGACTAATGGTGCCACTGCTGGCAATGGTGATGATGGATTAATTCCTCCAAGGAAGAGCAGAACACCTGAAAGCCAGCAATTTCCTGACACTGAGAATGAAGAGTATCACAG___TGACGAACAAAATGATACTCAGAAGCAATTTTGTGAAGAACAGAACACTGGAATATTACACGATGAGATTCTGATTCATGAAGAAAAGCAGATAGAAGTGGTTGAAAAAATGAATTCTGAG___CTTTCTCTTAGTTGTAAGAAAGAAAAAGACTTCTTGCATGAAAATAGTACGTTGCGGGAAGAAATTGCCATGCTAAGACTGGAGCTAGACACAATGAAACATCAGAGCCAGCTAAGAAAAAAGAAATATTTGGAGGATATTGAAAGTGTGAAAAAAAAGAATGATAATCTTTTAAAGGCTCTACAATTGAATGAGCTCACCATGGATGATGATACCGCCGTGCTCGTCATTGACAACGGCTCTGGCATGTGCAAGGCCGGCTTTGCGGGCGACGATGCCCCCCGGGCTGTCTTCCCTTCCATCGTGGGGCGCCCCAGGCAGCAGGGCATGATGGGGGGCATGCATCAGAAAGAGTCCTATGTGGGCAAGGAGGCCCAGAGCAAGAGAGGCATCCTGACCCTGAAGTACCCCATGGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGATCTGGCACCACACCTTCTACAACGAGCTGCGTGTGGCCCCTGAGGAGCACCCCATCCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATGACCCAGATCATGTTTGAGACCTTCAACACCCCAGCCATGTACGTGGCCATCCAGGCCATGCTGTCCCTGTACACCTCTGGCCGTACTACTGGCATCGTGATGGACTCTGGTGACGGGGTCACCCACACTGTGCCCATCTATGATGGGAATGCCCTCCCCCATGCCACCCTGCGCCTAGACCTGGCTGGGCGGGAACTGACTGACTACCTCATGAAGATCCTCACCGAGCGTGGCTATAGGTTCACCACCATGGCCGAGCGGGAAATCGTGCGTGACATCAAAGAGAAGCTGTGCTATGTTGCCCTGGACTTCGAGCAGGAGATGGCCATGGCGGCCTCCAGCTCCTCCCTAGAGAAGAGCTACGAGCTGCCCGATGGCCAGGTCATCACCATCGGCAACGAGTGGTTCCGCTGCCCCGAGGCGCTCTTCCAGCCTTGCTTCCTGGGCATGGAATCCTGTGGCATCCATGAAACTACCTTCAACTCCATCATGAAGTCTGATGTGGACATCCGCAAAGACCTGTACACCAACACAGTGCTGTCTGGCGGCACCACCATGTACCCTGGCATGGCCCACAGAATGCAGAAGGAGATCGCTGCCCTGGCGCCTAGCATGTTGAAGATCAGGATCATTGCTCCTCCCAAGCGCAAGTACTCCGTGTGGGTCGGTGGCTCCATCCTGGCCTCGCTGTCCACCTTCCAGCAGATGTGGATCAGCAAGCAGGAGTATGATGAGTCAGGCCCCTCCATTGTCCACCGCAAATGCTTCTAGGTGGACTCTGACTTAGTTGCGTTACACCCTTTCTTGACAAAACCAAACTTCTCAGAAAACAACATGAGATTGGCATGGCTTTATTTGTTTTCTTGTTTCATTTTTTGTTTTGTTTTTTATTGGCTTGACTCAGGATTTAAAAACCGGAATGGTGAAGGTGACAGCAGTCGGTTGGAGGAAGCTTCCTCCAAAGTTCTACAATGTGGCCAAGGACTTTGATTGTACATTGTTCTTCTTTTCAATAGTCATTCCAAATATTGTGAGACGCATTGTTTCAGGAAGCCCCTTGCCCTGCTAAAAGCCACCCCACTTCTCTCTAAGGAGAATGGCCCAGTCCTCTCCCTAGTTCACACAGGGGAGGTGATAGCATTGCTTTTGTGCAGATTACATAATGCAAAATTTTTTGAATCTTCGCCTTAATACTTTTTAATTTTGTTTTATTTTGAATGATCAGCCTTCGTGGCCCCCCTCTTTTGTACCCCAACTTGGGGTGTATGAAGGCTTTTGGTCTCCCTGAGAGTGGCTGGAGGCAGCCAGGGCTTACCTGTACTCTGACTTGAGGAGAGTTGGATAAAAGTGCACACCTTAAAAAAAATTGAGGAAGCACAGTATTTCAGTACAGTGGACAGCTTAGCATGTTGACAACTGAGAATAAAATGCTCAGTTCTGAACTGGACAATGTAAGACACAACGAGGAAACACCGGAAATGGAAATTCAATTACGTCATTGTAGACTGGCTGCTGCTCTACATGATTGTGACCAAAGTCAGATAGCTGAAAGAGACTTCTTTCCAGAGAACAAGACATGAACAGGTTTATTTACAGAAGACAATGAATTCTCATTTATCTCACCTAAAAGAGAACAGATTCTTTCTCAACAAGTCTAACGTAGACAGTAAAATCAACAGGCTAAAAATTAAGCTCCATGAAACAAGATAAAACTCTGAGAGAAAAGACGGGGCAGGCCGCCATCTTTCCCGTTCAGGCAACTTAGTCATTCCAGCCTGCGGGCTTTGGAGAGTACAAACCGACGAGGGACAGAAGAGATCCCACAGCACAGCATAGCTGCTTTACCAAATCATGGCCAGACTGCTTCTGTAAGCAGGCCCCTGATCCTGTTCCATCTCACTGGACAGGACCTCCCAACTGGGGCCTCCAGCTACCCCCACCAGCATTCCTTGGCCAATGGAAATGTGAAATGTTCCTGGGACAGAGCTCCCGGAGAGGGGCAGGCCCCCACCTTTGCTCTTTCGGTGACTAGCCATTCTGGCCTGCGGGCTTTGGAGAGCCCAAGCTGACAAGGGGTGGAAGAGGTACCTCAGCACAGCACAGCCACGCTACCAAAACGTGGCCAGACTCTTGTTTACGTCAGTCCCTGACCACATTTCTAGTCAGTGGGTGAAGTCTTTCAACCAGGGTCTCTGGCTACCTTGACTGCTGTTCTCTGGCCGACAGAGGTCTCAGGCCTCCCTGAGTCAGAGCTCCCAGGGGGAGGACCAGATTGTCATCTTTGCTGTTGGGGCGACCCAGGCATTTCAGCCTTAGGGCTTCAGAGTGTCTGAGGCGGACCAGGGGC)TGAAGTGAACCCCCAGCACAGCACAGCTGCTCTATAAAAACGTGGCCAGACTTTTCTTTTTGAAGCAAGTCCCTGTTCTTGTTCGTCCTGACTAG|ACCTGTCATTCTGCTGTTTTTACCAAAAAGGATCATGAGGATCAGAGAG(GAAAAGTCACTTGCCCAAAGTCACACAGCTGAACAGTGGTGGAGTTCAACTTTGACCATGGGCTGTCTGGCCCCAAGGTGTATGCTTGCTTCTCTCCCAAGAGACTCCTTTCTTATCAGGCTCAAATGAATGAAAGGAGGATGTTAAAG___TTCCTAGAAGCTTTAATTGAATGAAAGTTCCTAGTAGATCTGTACCTACTAAAAACCACACTTCTGAAGCTACGTGGCCACCAGAAGACACAGCTAGTCTGCCATGTAAAAAAGGAAAGGTGGCGTGTGCCCTGAAGGCGCAGGGGTGAGAGGCAGGGAAATGGAGACCCCAACAGCCAGCATCAGTGGCCCTCATCACAGCCCTCCAGGAGATATCAAAGGAG___ACAACGCCATTATTGACGAGATCACTCCCAAGCGGATTGGAGATTGTCCCAATACTTAGACCTATAGCAAGGCCTTGGGAGAAATGGTGGTGCAGCAGGAGAGCAGGAACCTAACCATTGCCATCCTAAGGCCCTCCATTGTGCGGAGCAACGTCGCACCAGCTTTTCCTG___GGTTGGGTTGATAATCTAAATGGATGTAGCTGACTCATTATTGCG___GCTGGGAAAGGGTTTCTTCTGTCCATAAAAGCTACTCCAATGGCTGTGGGAGACTTAATTCCAATTCCAGGTGATACAGCCGTCAATCTCCCACTAGCTGTAGGATGGTGTGTGTGCTGCAGTTCACAG___GGCAAAGGAGATAGAAGTGGATGAAATGAGAGAATTTTCTTTAATTGAACTCTGGTTAATGCCAAAAGTGTTCAATCACTATGTGTGGGGAAGTTTCCTGGTACAAAGGAAAAAAAAACAG___ACCTAAGTCAGTGTTAGTCTACCACTGTACATCTGGTAACCTCAATCCCTGCAACCGGGGCAAAATGG___GTTTCCAGGTCTTGGCAACCTTTGAAATTCCAATTCCATTTGAGAGAGCTTTGACGAGGCCATATGCTGATTTCACCACCAGCAACTTCAGAACCCAGTACTGGAATGCCATCAGCCAGCAGGCCCCTGCCATCATCTATGACTTCTATCTGTGGCTCACTGGAAGGAAACCCAG___CTACCGAAGGAAGATACCCTCATCAACCCAATTTTACAAATGGAGAAATAGAAGTTAAGGGAAGAATCTGAAGTAGTCTCAAAGGCAGTGACAGGAAGGATGTGGAGAAAGCTGAGTGTCAAAGTCAGTATTCAGGACCGGCTTTACTGCTACTTAGAGATGAATGAAGAAATCAGAGGGAACGCAGTGTGCTGATGCTAAAGCAGCTGTCACCACCCAGCTGTGTGACATAGGACATATTCTTTCTCTGTCTCACTTGACTAATATGATATGTCAGAGGAGACATGATTGTAATTGCCTAAAGCAATTCTTGTGATCAAGACTCAGAAGCACGAACAGTATTGCCCTCTGTGTTAGCCCCTTTATAAGGGAGGATATCATCTTCAGCATGCTGAATTGTCATCTTTCTTAGCAGTGCAAATGACTAAAACTTAGCCAATGTAGAGTTTGTCCAAATTTGGAGCTCATAACTCAGTTCTTGAGCAAAGTGAAAAGAAAACATTGTGATTATGGGGAAAATATTTGACGGGACTTATCAAATAAAGATAGGAAAAGAAGAAAACCCAAATATTATAGGCAGAAATGCTAAAGGTTTTAAAATATGTCAGGATTGGAAGAAGGCATGGATAAAGAACAAAGTTCAGTTAGGAAAGAGAAACACAGAAGGAAGAGACACAATAAAAGTCATTATGT)$ .